#version 2.4 Hugo_Symbol Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID HGVSc HGVSp HGVSp_Short Transcript_ID Exon_Number t_depth t_ref_count t_alt_count n_depth n_ref_count n_alt_count all_effects Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation ALLELE_NUM DISTANCE STRAND_VEP SYMBOL SYMBOL_SOURCE HGNC_ID BIOTYPE CANONICAL CCDS ENSP SWISSPROT TREMBL UNIPARC RefSeq SIFT PolyPhen EXON INTRON DOMAINS AF AFR_AF AMR_AF ASN_AF EAS_AF EUR_AF SAS_AF AA_AF EA_AF CLIN_SIG SOMATIC PUBMED MOTIF_NAME MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE IMPACT PICK VARIANT_CLASS TSL HGVS_OFFSET PHENO MINIMISED ExAC_AF ExAC_AF_AFR ExAC_AF_AMR ExAC_AF_EAS ExAC_AF_FIN ExAC_AF_NFE ExAC_AF_OTH ExAC_AF_SAS GENE_PHENO FILTER flanking_bps vcf_id vcf_qual ExAC_AF_Adj ExAC_AC_AN_Adj ExAC_AC_AN ExAC_AC_AN_AFR ExAC_AC_AN_AMR ExAC_AC_AN_EAS ExAC_AC_AN_FIN ExAC_AC_AN_NFE ExAC_AC_AN_OTH ExAC_AC_AN_SAS ExAC_FILTER gnomAD_AF gnomAD_AFR_AF gnomAD_AMR_AF gnomAD_ASJ_AF gnomAD_EAS_AF gnomAD_FIN_AF gnomAD_NFE_AF gnomAD_OTH_AF gnomAD_SAS_AF vcf_pos ATAD3A . GRCh38 chr1 1517171 1517171 + Missense_Mutation SNP G G A rs1619925 7316-918 BS_84QXT7FR G G c.287G>A p.Arg96Gln p.R96Q ENST00000378755 3/16 41 34 7 17 17 0 ATAD3A,missense_variant,p.Arg96Gln,ENST00000378755,NM_018188.3;ATAD3A,intron_variant,,ENST00000339113,;ATAD3A,intron_variant,,ENST00000378756,NM_001170535.1;ATAD3A,intron_variant,,ENST00000536055,NM_001170536.1;ATAD3A,non_coding_transcript_exon_variant,,ENST00000439513,;ATAD3A,upstream_gene_variant,,ENST00000429957,; A ENSG00000197785 ENST00000378755 Transcript missense_variant 381/2612 287/1905 96/634 R/Q cGg/cAg rs1619925,COSM4596874 1 1 ATAD3A HGNC HGNC:25567 protein_coding YES CCDS31.1 ENSP00000368030 Q9NVI7 UPI000013D456 NM_018188.3 tolerated_low_confidence(0.58) benign(0) 3/16 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23075,hmmpanther:PTHR23075:SF4 0.1779 0.2156 0.1282 0.3323 0.004 0.182 0,1 MODERATE 1 SNV 2 0,1 1 PASS CGG . . 0.03914 0.1307 0.04243 0.0006101 0.2592 0.01968 0.0008531 0.02897 0.04709 1517171 CA6 . GRCh38 chr1 8958917 8958917 + Missense_Mutation SNP T T C novel 7316-918 BS_84QXT7FR T T c.416T>C p.Ile139Thr p.I139T ENST00000377436 4/8 70 59 11 23 22 1 CA6,missense_variant,p.Ile139Thr,ENST00000377443,NM_001215.3;CA6,missense_variant,p.Ile139Thr,ENST00000377436,NM_001270500.1;CA6,missense_variant,p.Ile79Thr,ENST00000377442,NM_001270501.1,NM_001270502.1;CA6,missense_variant,p.Ile107Thr,ENST00000549778,;CA6,non_coding_transcript_exon_variant,,ENST00000476083,; C ENSG00000131686 ENST00000377436 Transcript missense_variant 416/942 416/942 139/313 I/T aTt/aCt 1 1 CA6 HGNC HGNC:1380 protein_coding YES CCDS57970.1 ENSP00000366654 P23280 UPI00004CA0CB NM_001270500.1 deleterious(0) benign(0.368) 4/8 PROSITE_profiles:PS51144,cd03125,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF110,PROSITE_patterns:PS00162,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069 MODERATE 1 SNV 1 PASS ATT . . 8958917 MAP3K6 . GRCh38 chr1 27361345 27361345 + Splice_Site SNP C C A rs771659002 7316-918 BS_84QXT7FR C C c.1736+1G>T p.X579_splice ENST00000493901 78 59 19 28 28 0 MAP3K6,splice_donor_variant,,ENST00000357582,;MAP3K6,splice_donor_variant,,ENST00000374040,NM_001297609.1;MAP3K6,splice_donor_variant,,ENST00000472410,;MAP3K6,splice_donor_variant,,ENST00000493901,NM_004672.4;MAP3K6,upstream_gene_variant,,ENST00000486046,;MAP3K6,upstream_gene_variant,,ENST00000470890,;MAP3K6,upstream_gene_variant,,ENST00000476509,;MAP3K6,upstream_gene_variant,,ENST00000495230,;,regulatory_region_variant,,ENSR00000003702,; A ENSG00000142733 ENST00000493901 Transcript splice_donor_variant rs771659002 1 -1 MAP3K6 HGNC HGNC:6858 protein_coding YES CCDS299.1 ENSP00000419591 O95382 UPI0000205587 NM_004672.4 13/29 HIGH 1 SNV 5 1 PASS ACC . . 4.073e-06 8.989e-06 27361345 SPAG17 . GRCh38 chr1 118066887 118066887 + Missense_Mutation SNP C C T novel 7316-918 BS_84QXT7FR C C c.2398G>A p.Ala800Thr p.A800T ENST00000336338 18/49 70 55 15 29 29 0 SPAG17,missense_variant,p.Ala800Thr,ENST00000336338,NM_206996.2;SPAG17,intron_variant,,ENST00000477444,; T ENSG00000155761 ENST00000336338 Transcript missense_variant 2464/6924 2398/6672 800/2223 A/T Gcc/Acc 1 -1 SPAG17 HGNC HGNC:26620 protein_coding YES CCDS899.1 ENSP00000337804 Q6Q759 UPI00001601FD NM_206996.2 deleterious(0) probably_damaging(0.998) 18/49 hmmpanther:PTHR21963 MODERATE 1 SNV 1 PASS GCT . . 118066887 IGFN1 . GRCh38 chr1 201208915 201208915 + Missense_Mutation SNP A A G rs1247701351 7316-918 BS_84QXT7FR A A c.4022A>G p.Asp1341Gly p.D1341G ENST00000335211 12/24 73 53 13 27 24 0 IGFN1,missense_variant,p.Asp1341Gly,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 4152/11810 4022/11127 1341/3708 D/G gAt/gGt rs1247701351 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(1) possibly_damaging(0.737) 12/24 mobidb-lite MODERATE 1 SNV 5 PASS GAT . . 201208915 IGFN1 . GRCh38 chr1 201210972 201210972 + Missense_Mutation SNP C C G rs4915223 7316-918 BS_84QXT7FR C C c.6079C>G p.Arg2027Gly p.R2027G ENST00000335211 12/24 51 34 11 21 20 0 IGFN1,missense_variant,p.Arg2027Gly,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6209/11810 6079/11127 2027/3708 R/G Cgg/Ggg rs4915223,COSM3746722,COSM146727 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.84) benign(0) 12/24 0.2151 0.1952 0.1988 0.2778 0.2386 0.1646 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCG . . 0.09082 0.1857 0.09468 0.03519 0.2057 0.03137 0.07907 0.09212 0.06788 201210972 HOXD8 . GRCh38 chr2 176130418 176130420 + In_Frame_Del DEL GCG GCG - rs762106201 7316-918 BS_84QXT7FR GCG GCG c.68_70del p.Ala23del p.A23del ENST00000313173 1/2 56 41 5 16 13 0 HOXD8,inframe_deletion,p.Ala23del,ENST00000313173,NM_019558.3;HOXD8,inframe_deletion,p.Ala23del,ENST00000450510,NM_001199746.1;HOXD8,inframe_deletion,p.Ala23del,ENST00000544999,;HOXD8,intron_variant,,ENST00000429017,NM_001199747.1;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD-AS2,downstream_gene_variant,,ENST00000426965,;,regulatory_region_variant,,ENSR00000126748,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0162.2,; - ENSG00000175879 ENST00000313173 Transcript inframe_deletion 679-681/1917 52-54/873 18/290 A/- GCG/- rs762106201,COSM3770638 1 1 HOXD8 HGNC HGNC:5139 protein_coding YES CCDS2268.1 ENSP00000315949 P13378 UPI000012CF8B NM_019558.3 1/2 Low_complexity_(Seg):seg 0.0302 0.01558 0,1 MODERATE 1 deletion 2 16 0,1 PASS CTGCGG . . 0.03113 0.04954 0.04682 0.01614 0.06757 0.02465 0.02703 0.03308 0.02395 176130417 TTN . GRCh38 chr2 178652691 178652691 + Missense_Mutation SNP G G A rs367805038 7316-918 BS_84QXT7FR G G c.39005C>T p.Ser13002Leu p.S13002L ENST00000589042 201/363 80 69 11 37 36 0 TTN,missense_variant,p.Ser13002Leu,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; A ENSG00000155657 ENST00000589042 Transcript missense_variant 39230/109224 39005/107976 13002/35991 S/L tCg/tTg rs367805038 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 unknown(0) 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS CGA . . 4.107e-05 6.814e-05 8.956e-05 5.809e-05 2.73e-05 0.000184 3.253e-05 178652691 TTN . GRCh38 chr2 178652698 178652698 + Missense_Mutation SNP C C T rs777877044 7316-918 BS_84QXT7FR C C c.38998G>A p.Val13000Met p.V13000M ENST00000589042 201/363 77 64 13 34 33 0 TTN,missense_variant,p.Val13000Met,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; T ENSG00000155657 ENST00000589042 Transcript missense_variant 39223/109224 38998/107976 13000/35991 V/M Gtg/Atg rs777877044 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 unknown(0) 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ACT . . 8.207e-06 1.819e-05 178652698 AGXT . GRCh38 chr2 240878786 240878786 + Missense_Mutation SNP G G T novel 7316-918 BS_84QXT7FR G G c.1144G>T p.Ala382Ser p.A382S ENST00000307503 11/11 98 79 18 23 23 0 AGXT,missense_variant,p.Ala382Ser,ENST00000307503,NM_000030.2;AGXT,non_coding_transcript_exon_variant,,ENST00000470255,;AGXT,downstream_gene_variant,,ENST00000476698,; T ENSG00000172482 ENST00000307503 Transcript missense_variant 1531/1865 1144/1179 382/392 A/S Gcg/Tcg 1 1 AGXT HGNC HGNC:341 protein_coding YES CCDS2543.1 ENSP00000302620 P21549 UPI0000135E9B NM_000030.2 deleterious(0.02) benign(0.01) 11/11 PDB-ENSP_mappings:1h0c.A,PDB-ENSP_mappings:1j04.A,PDB-ENSP_mappings:2yob.A,PDB-ENSP_mappings:2yob.B,PDB-ENSP_mappings:3r9a.A,PDB-ENSP_mappings:3r9a.C,PDB-ENSP_mappings:4cbr.A,PDB-ENSP_mappings:4cbs.A,PDB-ENSP_mappings:4i8a.A,PDB-ENSP_mappings:4i8a.B,PDB-ENSP_mappings:4i8a.C,PDB-ENSP_mappings:4i8a.D,PDB-ENSP_mappings:4kxk.A,PDB-ENSP_mappings:4kxk.C,PDB-ENSP_mappings:4kyo.A,PDB-ENSP_mappings:4kyo.C,PDB-ENSP_mappings:5f9s.A,PDB-ENSP_mappings:5f9s.B,PDB-ENSP_mappings:5hhy.A,PDB-ENSP_mappings:5hhy.B,PDB-ENSP_mappings:5luc.A,PDB-ENSP_mappings:5luc.B,PDB-ENSP_mappings:5luc.E,PDB-ENSP_mappings:5luc.G,PDB-ENSP_mappings:5luc.M,PDB-ENSP_mappings:5luc.N,PDB-ENSP_mappings:5luc.S,PDB-ENSP_mappings:5luc.T,PDB-ENSP_mappings:5ofy.A,PDB-ENSP_mappings:5og0.A,cd06451,hmmpanther:PTHR21152:SF22,hmmpanther:PTHR21152,Gene3D:3.90.1150.10,PIRSF_domain:PIRSF000524,Superfamily_domains:SSF53383 MODERATE 1 SNV 1 1 PASS GGC . . 240878786 SETD2 . GRCh38 chr3 47122109 47122109 + Missense_Mutation SNP C C G novel 7316-918 BS_84QXT7FR C C c.2527G>C p.Asp843His p.D843H ENST00000409792 3/21 90 71 18 31 30 0 SETD2,missense_variant,p.Asp843His,ENST00000409792,NM_014159.6,NM_001349370.1;SETD2,missense_variant,p.Asp799His,ENST00000412450,;SETD2,upstream_gene_variant,,ENST00000638947,;SETD2,missense_variant,p.Asp715His,ENST00000330022,;SETD2,missense_variant,p.Asp561His,ENST00000431180,;SETD2,missense_variant,p.Asp477His,ENST00000445387,; G ENSG00000181555 ENST00000409792 Transcript missense_variant 2570/8142 2527/7695 843/2564 D/H Gat/Cat 1 -1 SETD2 HGNC HGNC:18420 protein_coding YES CCDS2749.2 ENSP00000386759 Q9BYW2 UPI00017E10FB NM_014159.6,NM_001349370.1 deleterious_low_confidence(0) possibly_damaging(0.765) 3/21 hmmpanther:PTHR22884:SF468,hmmpanther:PTHR22884 MODERATE 1 SNV 5 1 PASS TCT . . 47122109 C4orf50 . GRCh38 chr4 5990491 5990491 + Missense_Mutation SNP C C A novel 7316-918 BS_84QXT7FR C C c.1555G>T p.Gly519Cys p.G519C ENST00000531445 6/12 71 64 6 36 34 0 C4orf50,missense_variant,p.Gly519Cys,ENST00000531445,;C4orf50,upstream_gene_variant,,ENST00000324058,;C4orf50,upstream_gene_variant,,ENST00000639345,; A ENSG00000181215 ENST00000531445 Transcript missense_variant 1631/6860 1555/4527 519/1508 G/C Ggc/Tgc 1 -1 C4orf50 HGNC HGNC:33766 protein_coding YES ENSP00000437121 E9PNW5 UPI0007E52BBE deleterious(0.01) possibly_damaging(0.845) 6/12 hmmpanther:PTHR36866,Gene3D:1.20.5.340 MODERATE 1 SNV 5 PASS CCT . . 5990491 ERCC8 . GRCh38 chr5 60874686 60874686 + Splice_Region DEL A A - rs769301124 7316-918 BS_84QXT7FR A A c.1123-3del ENST00000265038 69 45 12 29 27 0 ERCC8,splice_region_variant,,ENST00000265038,NM_001007233.2,NM_000082.3,NM_001290285.1;ERCC8,splice_region_variant,,ENST00000462279,;ERCC8,splice_region_variant,,ENST00000381118,;ERCC8,splice_region_variant,,ENST00000643034,;ERCC8,splice_region_variant,,ENST00000643708,;ERCC8,splice_region_variant,,ENST00000647431,; - ENSG00000049167 ENST00000265038 Transcript splice_region_variant,intron_variant rs769301124,TMP_ESP_5_60170513_60170513,COSM1620438 1 -1 ERCC8 HGNC HGNC:3439 protein_coding YES CCDS3978.1 ENSP00000265038 Q13216 UPI000000D8F8 NM_001007233.2,NM_000082.3,NM_001290285.1 11/11 0.2216 0.2245 0,0,1 LOW 1 deletion 1 0,0,1 1 PASS CTAA . . 0.3606 0.3051 0.3936 0.4114 0.3428 0.3265 0.3477 0.3799 0.4199 60874685 TAF9 . GRCh38 chr5 69366497 69366497 + Splice_Region SNP C C T rs761031032 7316-918 BS_84QXT7FR C C c.-18+6G>A ENST00000328663 82 69 13 32 32 0 TAF9,splice_region_variant,,ENST00000217893,NM_003187.4;TAF9,splice_region_variant,,ENST00000328663,NM_001015892.1;AK6,splice_region_variant,,ENST00000380818,NM_001015891.1;AK6,splice_region_variant,,ENST00000380822,NM_016283.4;AK6,splice_region_variant,,ENST00000502819,;TAF9,splice_region_variant,,ENST00000503245,;TAF9,splice_region_variant,,ENST00000504109,;TAF9,splice_region_variant,,ENST00000506736,;TAF9,splice_region_variant,,ENST00000508954,;TAF9,splice_region_variant,,ENST00000509462,;TAF9,splice_region_variant,,ENST00000512152,;AK6,splice_region_variant,,ENST00000618980,;AK6,intron_variant,,ENST00000512561,;RAD17,upstream_gene_variant,,ENST00000282891,NM_133341.2;RAD17,upstream_gene_variant,,ENST00000305138,NM_002873.1;RAD17,upstream_gene_variant,,ENST00000345306,NM_133344.2;RAD17,upstream_gene_variant,,ENST00000354312,NM_133342.2;RAD17,upstream_gene_variant,,ENST00000354868,NM_133338.2;RAD17,upstream_gene_variant,,ENST00000358030,NM_133340.2;RAD17,upstream_gene_variant,,ENST00000361732,NM_133343.1;RAD17,upstream_gene_variant,,ENST00000380774,NM_133339.2;RAD17,upstream_gene_variant,,ENST00000506564,;RAD17,upstream_gene_variant,,ENST00000507927,;RAD17,upstream_gene_variant,,ENST00000509734,;RAD17,upstream_gene_variant,,ENST00000512785,;RAD17,upstream_gene_variant,,ENST00000521422,;RAD17,upstream_gene_variant,,ENST00000616683,NM_001278622.1;RAD17,upstream_gene_variant,,ENST00000504177,;RAD17,upstream_gene_variant,,ENST00000511349,;RAD17,upstream_gene_variant,,ENST00000514066,; T ENSG00000273841 ENST00000328663 Transcript splice_region_variant,intron_variant rs761031032 1 -1 TAF9 HGNC HGNC:11542 protein_coding YES CCDS4002.1 ENSP00000370193 Q16594 UPI000000D8A6 NM_001015892.1 2/2 LOW SNV 2 PASS CCC . . 1.221e-05 1.793e-05 0.0001826 69366497 MAP1B . GRCh38 chr5 72203659 72203659 + Missense_Mutation SNP A A C novel 7316-918 BS_84QXT7FR A A c.7109A>C p.Lys2370Thr p.K2370T ENST00000296755 6/7 61 51 9 30 30 0 MAP1B,missense_variant,p.Lys2370Thr,ENST00000296755,NM_001324255.1,NM_005909.4;,regulatory_region_variant,,ENSR00000182191,; C ENSG00000131711 ENST00000296755 Transcript missense_variant 7407/12036 7109/7407 2370/2468 K/T aAg/aCg 1 1 MAP1B HGNC HGNC:6836 protein_coding YES CCDS4012.1 ENSP00000296755 P46821 UPI000013E382 NM_001324255.1,NM_005909.4 deleterious(0) probably_damaging(0.997) 6/7 hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5 MODERATE 1 SNV 1 PASS AAG . . 72203659 HARS . GRCh38 chr5 140677387 140677387 + Missense_Mutation SNP C C T novel 7316-918 BS_84QXT7FR C C c.763G>A p.Gly255Arg p.G255R ENST00000504156 8/13 72 63 9 32 32 0 HARS,missense_variant,p.Gly186Arg,ENST00000504366,;HARS,missense_variant,p.Gly255Arg,ENST00000504156,NM_001289094.1,NM_002109.5;HARS,missense_variant,p.Gly255Arg,ENST00000644191,;HARS,missense_variant,p.Gly235Arg,ENST00000457527,NM_001258041.2;HARS,missense_variant,p.Gly215Arg,ENST00000438307,NM_001258040.2;HARS,missense_variant,p.Gly195Arg,ENST00000307633,NM_001258042.2;HARS,missense_variant,p.Gly141Arg,ENST00000431330,NM_001289093.1;HARS,missense_variant,p.Gly181Arg,ENST00000415192,NM_001289092.1;HARS,missense_variant,p.Gly145Arg,ENST00000507746,;DND1,upstream_gene_variant,,ENST00000542735,NM_194249.2;HARS,3_prime_UTR_variant,,ENST00000643686,;HARS,3_prime_UTR_variant,,ENST00000645491,;HARS,3_prime_UTR_variant,,ENST00000512396,;HARS,3_prime_UTR_variant,,ENST00000646229,;HARS,non_coding_transcript_exon_variant,,ENST00000506579,;WDR55,downstream_gene_variant,,ENST00000504897,;HARS,upstream_gene_variant,,ENST00000509087,;HARS,downstream_gene_variant,,ENST00000518126,; T ENSG00000170445 ENST00000504156 Transcript missense_variant 1321/2440 763/1530 255/509 G/R Gga/Aga 1 -1 HARS HGNC HGNC:4816 protein_coding YES CCDS4237.1 ENSP00000425634 P12081 UPI00001364CE NM_001289094.1,NM_002109.5 tolerated(0.27) benign(0.066) 8/13 HAMAP:MF_00127,PROSITE_profiles:PS50862,cd00773,hmmpanther:PTHR11476,hmmpanther:PTHR11476:SF8,PIRSF_domain:PIRSF001549,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00442,Pfam_domain:PF13393,Superfamily_domains:SSF55681 MODERATE 1 SNV 1 1 PASS CCC . . 140677387 C5orf60 . GRCh38 chr5 179643456 179643457 + Frame_Shift_Del DEL AA AA - rs1380176864 7316-918 BS_84QXT7FR AA AA c.314_315del p.Leu105ArgfsTer16 p.L105Rfs*16 ENST00000625191 3/6 67 51 9 25 25 0 C5orf60,frameshift_variant,p.Leu105ArgfsTer16,ENST00000625191,NM_001305388.1,NM_001142306.2;C5orf60,non_coding_transcript_exon_variant,,ENST00000506142,;C5orf60,frameshift_variant,p.Leu105ArgfsTer16,ENST00000512899,;C5orf60,3_prime_UTR_variant,,ENST00000513845,;C5orf60,non_coding_transcript_exon_variant,,ENST00000514664,;C5orf60,non_coding_transcript_exon_variant,,ENST00000511063,;C5orf60,downstream_gene_variant,,ENST00000503358,;C5orf60,downstream_gene_variant,,ENST00000513142,; - ENSG00000204661 ENST00000625191 Transcript frameshift_variant 340-341/1208 314-315/834 105/277 L/X cTT/c rs1380176864 1 -1 C5orf60 HGNC HGNC:27753 protein_coding YES ENSP00000493173 A6NFR6 UPI00004191D3 NM_001305388.1,NM_001142306.2 3/6 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF23 HIGH 1 deletion 1 PASS TCAAG . . 179643455 C5orf60 . GRCh38 chr5 179643460 179643461 + Frame_Shift_Ins INS - - GG rs1412986680 7316-918 BS_84QXT7FR - - c.310_311insCC p.Asn104ThrfsTer14 p.N104Tfs*14 ENST00000625191 3/6 67 50 9 23 23 0 C5orf60,frameshift_variant,p.Asn104ThrfsTer14,ENST00000625191,NM_001305388.1,NM_001142306.2;C5orf60,non_coding_transcript_exon_variant,,ENST00000506142,;C5orf60,frameshift_variant,p.Asn104ThrfsTer14,ENST00000512899,;C5orf60,3_prime_UTR_variant,,ENST00000513845,;C5orf60,non_coding_transcript_exon_variant,,ENST00000514664,;C5orf60,non_coding_transcript_exon_variant,,ENST00000511063,;C5orf60,downstream_gene_variant,,ENST00000503358,;C5orf60,downstream_gene_variant,,ENST00000513142,; GG ENSG00000204661 ENST00000625191 Transcript frameshift_variant 336-337/1208 310-311/834 104/277 N/TX aac/aCCac rs1412986680 1 -1 C5orf60 HGNC HGNC:27753 protein_coding YES ENSP00000493173 A6NFR6 UPI00004191D3 NM_001305388.1,NM_001142306.2 3/6 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF23 HIGH 1 insertion 1 PASS GTT . . 179643460 HIST1H1E . GRCh38 chr6 26156470 26156470 + Missense_Mutation SNP C C T rs766435782 7316-918 BS_84QXT7FR C C c.80C>T p.Ser27Phe p.S27F ENST00000304218 1/1 102 78 23 27 26 0 HIST1H1E,missense_variant,p.Ser27Phe,ENST00000304218,NM_005321.2;HIST1H2BD,upstream_gene_variant,,ENST00000289316,NM_138720.2;HIST1H2BD,upstream_gene_variant,,ENST00000377777,NM_021063.3;AL353759.1,downstream_gene_variant,,ENST00000635439,;,regulatory_region_variant,,ENSR00000194991,; T ENSG00000168298 ENST00000304218 Transcript missense_variant 117/754 80/660 27/219 S/F tCt/tTt rs766435782,COSM3860911 1 1 HIST1H1E HGNC HGNC:4718 protein_coding YES CCDS4586.1 ENSP00000307705 P10412 A3R0T8 UPI0000000DB9 NM_005321.2 deleterious(0.01) benign(0.039) 1/1 PDB-ENSP_mappings:3tzd.T,PDB-ENSP_mappings:5jjz.B,Prints_domain:PR00624,hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF57,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 0,1 1 PASS TCT . . 8.2e-06 1.814e-05 26156470 PIM1 . GRCh38 chr6 37171118 37171118 + Splice_Region SNP C C T novel 7316-918 BS_84QXT7FR C C c.241-7C>T ENST00000373509 90 85 5 30 30 0 PIM1,splice_region_variant,,ENST00000373509,NM_001243186.1,NM_002648.3;PIM1,upstream_gene_variant,,ENST00000468243,;PIM1,upstream_gene_variant,,ENST00000479509,;,regulatory_region_variant,,ENSR00000196361,;,TF_binding_site_variant,,MA0341.1,;,TF_binding_site_variant,,MA0366.1,; T ENSG00000137193 ENST00000373509 Transcript splice_region_variant,intron_variant 1 1 PIM1 HGNC HGNC:8986 protein_coding YES CCDS4830.1 ENSP00000362608 P11309 A0A024RD25 UPI0000001060 NM_001243186.1,NM_002648.3 3/5 LOW 1 SNV 1 1 PASS CCC . . 37171118 NACAD . GRCh38 chr7 45084402 45084402 + Missense_Mutation SNP T T C rs754082573 7316-918 BS_84QXT7FR T T c.1778A>G p.Asp593Gly p.D593G ENST00000490531 2/8 98 85 12 26 24 0 NACAD,missense_variant,p.Asp593Gly,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,; C ENSG00000136274 ENST00000490531 Transcript missense_variant 1798/4780 1778/4689 593/1562 D/G gAc/gGc rs754082573,COSM228095 1 -1 NACAD HGNC HGNC:22196 protein_coding YES CCDS47582.1 ENSP00000420477 O15069 UPI00001D747D NM_001146334.1 tolerated(0.89) benign(0.001) 2/8 hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF1,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS GTC . . 0.0005063 0.0007926 0.0005115 0.0003656 0.0008913 0.000676 0.0002604 0.0002665 45084402 ZNF777 . GRCh38 chr7 149432107 149432107 + Missense_Mutation SNP A A T rs1176696177 7316-918 BS_84QXT7FR A A c.2165T>A p.Phe722Tyr p.F722Y ENST00000247930 6/6 62 47 7 28 27 0 ZNF777,missense_variant,p.Phe722Tyr,ENST00000247930,NM_015694.2; T ENSG00000196453 ENST00000247930 Transcript missense_variant 2489/3233 2165/2496 722/831 F/Y tTc/tAc rs1176696177,COSM6214151 1 -1 ZNF777 HGNC HGNC:22213 protein_coding YES CCDS43675.1 ENSP00000247930 Q9ULD5 UPI0000E9B152 NM_015694.2 tolerated(1) benign(0.104) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR44987,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GAA . . 149432107 KMT2C . GRCh38 chr7 152182245 152182245 + Missense_Mutation SNP T T C novel 7316-918 BS_84QXT7FR T T c.5615A>G p.Gln1872Arg p.Q1872R ENST00000262189 36/59 80 72 7 43 43 0 KMT2C,missense_variant,p.Gln1872Arg,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Gln1872Arg,ENST00000355193,;KMT2C,upstream_gene_variant,,ENST00000360104,;KMT2C,upstream_gene_variant,,ENST00000558665,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,; C ENSG00000055609 ENST00000262189 Transcript missense_variant 5834/16862 5615/14736 1872/4911 Q/R cAg/cGg 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 tolerated(0.84) probably_damaging(0.953) 36/59 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTG . . 152182245 PTPRD . GRCh38 chr9 8517884 8517884 + Missense_Mutation SNP G G T 7316-918 BS_84QXT7FR G G c.1507C>A p.Leu503Ile p.L503I ENST00000381196 18/43 103 80 21 38 36 1 PTPRD,missense_variant,p.Leu503Ile,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Leu503Ile,ENST00000356435,;PTPRD,missense_variant,p.Leu503Ile,ENST00000355233,NM_130392.3;PTPRD,missense_variant,p.Leu493Ile,ENST00000397617,;PTPRD,missense_variant,p.Leu500Ile,ENST00000397611,NM_001040712.2;PTPRD,missense_variant,p.Leu497Ile,ENST00000537002,NM_130393.3;PTPRD,missense_variant,p.Leu503Ile,ENST00000540109,;PTPRD,missense_variant,p.Leu503Ile,ENST00000486161,NM_130391.3;PTPRD,missense_variant,p.Leu493Ile,ENST00000397606,NM_001171025.1; T ENSG00000153707 ENST00000381196 Transcript missense_variant 2051/9911 1507/5739 503/1912 L/I Ctt/Att COSM1636251,COSM1636252,COSM1636253,COSM1636254,COSM4779674,COSM4779675 1 -1 PTPRD HGNC HGNC:9668 protein_coding YES CCDS43786.1 ENSP00000370593 P23468 UPI0000132990 NM_002839.3 tolerated(0.37) probably_damaging(0.964) 18/43 cd00063,Pfam_domain:PF00041,Gene3D:2.60.40.10,Superfamily_domains:SSF49265,PROSITE_profiles:PS50853,hmmpanther:PTHR19134:SF203,hmmpanther:PTHR19134 1,1,1,1,1,1 MODERATE 1 SNV 5 1,1,1,1,1,1 1 PASS AGG . . 8517884 SPATA31A6 . GRCh38 chr9 42183784 42183784 + Missense_Mutation SNP G G C novel 7316-918 BS_84QXT7FR G G c.97G>C p.Val33Leu p.V33L ENST00000332857 1/4 55 43 10 24 24 0 SPATA31A6,missense_variant,p.Val33Leu,ENST00000332857,NM_001145196.1;SPATA31A6,upstream_gene_variant,,ENST00000496386,; C ENSG00000185775 ENST00000332857 Transcript missense_variant 126/4209 97/4032 33/1343 V/L Gtg/Ctg 1 1 SPATA31A6 HGNC HGNC:32006 protein_coding YES CCDS75837.1 ENSP00000329825 Q5VVP1 UPI0000197F6E NM_001145196.1 tolerated(1) possibly_damaging(0.893) 1/4 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF38 MODERATE 1 SNV 1 PASS GGT . . 42183784 MYPN . GRCh38 chr10 68201947 68201947 + Nonsense_Mutation SNP C C A novel 7316-918 BS_84QXT7FR C C c.3612C>A p.Tyr1204Ter p.Y1204* ENST00000358913 18/20 74 58 16 35 34 0 MYPN,stop_gained,p.Tyr910Ter,ENST00000613327,NM_001256268.1;MYPN,stop_gained,p.Tyr1204Ter,ENST00000358913,NM_032578.3;MYPN,stop_gained,p.Tyr1204Ter,ENST00000540630,NM_001256267.1;MYPN,stop_gained,p.Tyr929Ter,ENST00000354393,; A ENSG00000138347 ENST00000358913 Transcript stop_gained 4100/6013 3612/3963 1204/1320 Y/* taC/taA 1 1 MYPN HGNC HGNC:23246 protein_coding YES CCDS7275.1 ENSP00000351790 Q86TC9 UPI00002288CF NM_032578.3 18/20 Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR44719,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 HIGH 1 SNV 1 1 PASS ACT . . 68201947 CALY . GRCh38 chr10 133328869 133328869 + Missense_Mutation SNP G G T novel 7316-918 BS_84QXT7FR G G c.121C>A p.Pro41Thr p.P41T ENST00000252939 2/6 96 74 17 31 31 0 CALY,missense_variant,p.Pro41Thr,ENST00000252939,NM_015722.3,NM_001321617.1;CALY,missense_variant,p.Pro41Thr,ENST00000368558,;CALY,missense_variant,p.Pro41Thr,ENST00000368555,;ZNF511-PRAP1,intron_variant,,ENST00000368554,;CALY,upstream_gene_variant,,ENST00000467433,;CALY,upstream_gene_variant,,ENST00000467611,; T ENSG00000130643 ENST00000252939 Transcript missense_variant 215/2271 121/654 41/217 P/T Cca/Aca 1 -1 CALY HGNC HGNC:17938 protein_coding YES CCDS7678.1 ENSP00000252939 Q9NYX4 UPI0000001C76 NM_015722.3,NM_001321617.1 deleterious(0.03) benign(0.188) 2/6 hmmpanther:PTHR28546,hmmpanther:PTHR28546:SF1,Pfam_domain:PF06387,PIRSF_domain:PIRSF002383 MODERATE 1 SNV 1 PASS GGC . . 133328869 GLYAT . GRCh38 chr11 58715366 58715366 + Missense_Mutation SNP C C T rs777913255 7316-918 BS_84QXT7FR C C c.139G>A p.Val47Met p.V47M ENST00000611865 2/5 62 52 9 30 30 0 GLYAT,missense_variant,p.Val47Met,ENST00000611865,;GLYAT,missense_variant,p.Val47Met,ENST00000344743,NM_201648.2;GLYAT,missense_variant,p.Val47Met,ENST00000278400,NM_005838.3;GLYAT,missense_variant,p.Val47Met,ENST00000529732,;GLYAT,upstream_gene_variant,,ENST00000586098,; T ENSG00000149124 ENST00000611865 Transcript missense_variant 139/1899 139/891 47/296 V/M Gtg/Atg rs777913255,COSM6204742 1 -1 GLYAT HGNC HGNC:13734 protein_coding YES CCDS7970.1 ENSP00000484592 Q6IB77 UPI00003667C7 deleterious(0.02) probably_damaging(1) 2/5 hmmpanther:PTHR15298:SF9,hmmpanther:PTHR15298,Gene3D:3.40.630.30,Pfam_domain:PF06021,Superfamily_domains:SSF55729 0,1 MODERATE 1 SNV 3 0,1 PASS ACC . . 8.34e-06 6.703e-05 58715366 GLYAT . GRCh38 chr11 58715369 58715369 + Missense_Mutation SNP C C G rs756542151 7316-918 BS_84QXT7FR C C c.136G>C p.Val46Leu p.V46L ENST00000611865 2/5 61 54 6 28 28 0 GLYAT,missense_variant,p.Val46Leu,ENST00000611865,;GLYAT,missense_variant,p.Val46Leu,ENST00000344743,NM_201648.2;GLYAT,missense_variant,p.Val46Leu,ENST00000278400,NM_005838.3;GLYAT,missense_variant,p.Val46Leu,ENST00000529732,;GLYAT,upstream_gene_variant,,ENST00000586098,; G ENSG00000149124 ENST00000611865 Transcript missense_variant 136/1899 136/891 46/296 V/L Gtg/Ctg rs756542151,COSM5956554 1 -1 GLYAT HGNC HGNC:13734 protein_coding YES CCDS7970.1 ENSP00000484592 Q6IB77 UPI00003667C7 tolerated(1) benign(0) 2/5 hmmpanther:PTHR15298:SF9,hmmpanther:PTHR15298,Gene3D:3.40.630.30,Pfam_domain:PF06021,Superfamily_domains:SSF55729 0,1 MODERATE 1 SNV 3 0,1 PASS ACA . . 58715369 CATSPERZ . GRCh38 chr11 64300820 64300820 + Missense_Mutation SNP C C G novel 7316-918 BS_84QXT7FR C C c.185C>G p.Thr62Ser p.T62S ENST00000328404 2/5 83 67 16 34 34 0 CATSPERZ,missense_variant,p.Thr20Ser,ENST00000539943,;CATSPERZ,missense_variant,p.Thr62Ser,ENST00000328404,NM_001039496.1;ESRRA,upstream_gene_variant,,ENST00000000442,NM_004451.4;KCNK4,downstream_gene_variant,,ENST00000394525,NM_001317090.1;ESRRA,upstream_gene_variant,,ENST00000406310,NM_001282451.1;KCNK4,downstream_gene_variant,,ENST00000422670,NM_033310.2;KCNK4,downstream_gene_variant,,ENST00000538767,;KCNK4,downstream_gene_variant,,ENST00000539216,;ESRRA,upstream_gene_variant,,ENST00000539594,;RF00019,downstream_gene_variant,,ENST00000384297,;AP001453.3,non_coding_transcript_exon_variant,,ENST00000539086,;KCNK4,downstream_gene_variant,,ENST00000539651,;KCNK4,downstream_gene_variant,,ENST00000453423,;CATSPERZ,upstream_gene_variant,,ENST00000535981,;KCNK4,downstream_gene_variant,,ENST00000536690,;KCNK4,downstream_gene_variant,,ENST00000538846,;KCNK4,downstream_gene_variant,,ENST00000541349,;KCNK4,downstream_gene_variant,,ENST00000545838,; G ENSG00000219435 ENST00000328404 Transcript missense_variant 205/743 185/603 62/200 T/S aCc/aGc 1 1 CATSPERZ HGNC HGNC:19231 protein_coding YES ENSP00000491717 Q9NTU4 UPI000007117E NM_001039496.1 tolerated(1) benign(0.025) 2/5 hmmpanther:PTHR42155,mobidb-lite MODERATE 1 SNV 1 PASS ACC . . 64300820 CNTN5 . GRCh38 chr11 100070511 100070511 + Missense_Mutation SNP C C T novel 7316-918 BS_84QXT7FR C C c.1250C>T p.Pro417Leu p.P417L ENST00000524871 11/25 71 63 7 30 30 0 CNTN5,missense_variant,p.Pro417Leu,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Pro401Leu,ENST00000279463,;CNTN5,missense_variant,p.Pro339Leu,ENST00000619298,;CNTN5,missense_variant,p.Pro417Leu,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Pro417Leu,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Pro343Leu,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;CNTN5,non_coding_transcript_exon_variant,,ENST00000527682,; T ENSG00000149972 ENST00000524871 Transcript missense_variant 1540/6258 1250/3303 417/1100 P/L cCc/cTc 1 1 CNTN5 HGNC HGNC:2175 protein_coding YES CCDS53696.1 ENSP00000435637 O94779 UPI000006DAB0 NM_014361.3 deleterious(0.01) probably_damaging(0.99) 11/25 Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR43905,hmmpanther:PTHR43905:SF3,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CCC . . 100070511 ANO6 . GRCh38 chr12 45378077 45378077 + Missense_Mutation SNP G G A novel 7316-918 BS_84QXT7FR G G c.1192G>A p.Gly398Arg p.G398R ENST00000423947 11/21 62 45 16 35 35 0 ANO6,missense_variant,p.Gly377Arg,ENST00000320560,NM_001025356.2;ANO6,missense_variant,p.Gly359Arg,ENST00000441606,NM_001142678.1;ANO6,missense_variant,p.Gly398Arg,ENST00000423947,NM_001204803.1;ANO6,missense_variant,p.Gly377Arg,ENST00000425752,NM_001142679.1;ANO6,non_coding_transcript_exon_variant,,ENST00000426898,; A ENSG00000177119 ENST00000423947 Transcript missense_variant 1429/5504 1192/2796 398/931 G/R Gga/Aga 1 1 ANO6 HGNC HGNC:25240 protein_coding YES CCDS55819.1 ENSP00000409126 Q4KMQ2 UPI000022935A NM_001204803.1 deleterious(0) benign(0.319) 11/21 Transmembrane_helices:TMhelix,hmmpanther:PTHR12308:SF21,hmmpanther:PTHR12308,Pfam_domain:PF04547 MODERATE 1 SNV 1 1 PASS TGG . . 45378077 PHLDA1 . GRCh38 chr12 76030880 76030880 + Frame_Shift_Del DEL C C - novel 7316-918 BS_84QXT7FR C C c.862del p.Ala288ProfsTer169 p.A288Pfs*169 ENST00000266671 1/2 82 66 7 30 28 0 PHLDA1,frameshift_variant,p.Ala288ProfsTer169,ENST00000266671,;PHLDA1,frameshift_variant,p.Ala288ProfsTer169,ENST00000619060,NM_007350.3;PHLDA1,frameshift_variant,p.Ala147ProfsTer169,ENST00000602540,;AC011611.3,intron_variant,,ENST00000552367,;AC011611.4,upstream_gene_variant,,ENST00000547721,;,regulatory_region_variant,,ENSR00000054125,; - ENSG00000139289 ENST00000266671 Transcript frameshift_variant 3053/8069 862/1206 288/401 A/X Gcc/cc 1 -1 PHLDA1 HGNC HGNC:8933 protein_coding YES CCDS31861.1 ENSP00000266671 Q8WV24 UPI000013D704 1/2 hmmpanther:PTHR15478,hmmpanther:PTHR15478:SF4,Gene3D:2.30.29.30 HIGH 1 deletion 1 PASS GGCC . . 76030879 CDADC1 . GRCh38 chr13 49259345 49259345 + Splice_Site SNP G G A novel 7316-918 BS_84QXT7FR G G c.253-1G>A p.X85_splice ENST00000251108 88 69 18 28 27 0 CDADC1,splice_acceptor_variant,,ENST00000251108,NM_001193478.1,NM_030911.3;CDADC1,intron_variant,,ENST00000429346,;CDADC1,intron_variant,,ENST00000466868,;CDADC1,downstream_gene_variant,,ENST00000496952,;CDADC1,splice_acceptor_variant,,ENST00000496061,;CDADC1,intron_variant,,ENST00000484126,; A ENSG00000102543 ENST00000251108 Transcript splice_acceptor_variant 1 1 CDADC1 HGNC HGNC:20299 protein_coding YES CCDS9415.1 ENSP00000251108 Q9BWV3 UPI0000073EF4 NM_001193478.1,NM_030911.3 3/9 HIGH 1 SNV 1 PASS AGG . . 49259345 RBM23 . GRCh38 chr14 22902057 22902059 + In_Frame_Del DEL GCA GCA - rs764229204 7316-918 BS_84QXT7FR GCA GCA c.1167_1169del p.Ala393del p.A393del ENST00000359890 12/14 94 76 6 32 29 0 RBM23,inframe_deletion,p.Ala393del,ENST00000359890,NM_001077351.1;RBM23,inframe_deletion,p.Ala377del,ENST00000399922,NM_018107.4;RBM23,inframe_deletion,p.Ala359del,ENST00000346528,NM_001077352.1;RBM23,inframe_deletion,p.Ala143del,ENST00000555209,;RBM23,inframe_deletion,p.Ala223del,ENST00000542016,NM_001308044.1;RBM23,inframe_deletion,p.Ala168del,ENST00000553884,;RBM23,inframe_deletion,p.Ala36del,ENST00000557245,;RBM23,downstream_gene_variant,,ENST00000554256,;RBM23,downstream_gene_variant,,ENST00000555676,;RBM23,downstream_gene_variant,,ENST00000555722,;RBM23,downstream_gene_variant,,ENST00000556862,;RBM23,downstream_gene_variant,,ENST00000557227,;RBM23,downstream_gene_variant,,ENST00000557403,;RBM23,downstream_gene_variant,,ENST00000557464,;RBM23,downstream_gene_variant,,ENST00000557549,;RBM23,downstream_gene_variant,,ENST00000557571,;RBM23,non_coding_transcript_exon_variant,,ENST00000557127,;RBM23,downstream_gene_variant,,ENST00000553920,;RBM23,downstream_gene_variant,,ENST00000555714,;RBM23,downstream_gene_variant,,ENST00000556984,;RBM23,non_coding_transcript_exon_variant,,ENST00000557667,;RBM23,non_coding_transcript_exon_variant,,ENST00000556838,;RBM23,downstream_gene_variant,,ENST00000307814,;RBM23,downstream_gene_variant,,ENST00000553738,;RBM23,downstream_gene_variant,,ENST00000553902,;RBM23,downstream_gene_variant,,ENST00000554955,;RBM23,downstream_gene_variant,,ENST00000556186,;RBM23,downstream_gene_variant,,ENST00000556687,; - ENSG00000100461 ENST00000359890 Transcript inframe_deletion 1363-1365/10040 1167-1169/1320 389-390/439 AA/A gcTGCc/gcc rs764229204,TMP_ESP_14_23371266_23371271 1 -1 RBM23 HGNC HGNC:20155 protein_coding YES CCDS41921.1 ENSP00000352956 Q86U06 A0A0S2Z5D9 UPI000000CC09 NM_001077351.1 12/14 Pfam_domain:PF15519,hmmpanther:PTHR44047,hmmpanther:PTHR44047:SF3,TIGRFAM_domain:TIGR01622,Low_complexity_(Seg):seg 0.0441 0.026 MODERATE 1 deletion 1 PASS CGGCAG . . 0.0006276 0.0003402 0.0008966 0.001735 0.0001854 0.0006684 0.0007605 0.0006414 22902056 SLC25A21 . GRCh38 chr14 36684828 36684828 + Missense_Mutation SNP C C A novel 7316-918 BS_84QXT7FR C C c.701G>T p.Arg234Met p.R234M ENST00000331299 8/10 88 62 24 23 23 0 SLC25A21,missense_variant,p.Arg234Met,ENST00000331299,NM_030631.3;SLC25A21,missense_variant,p.Arg234Met,ENST00000555449,NM_001171170.1; A ENSG00000183032 ENST00000331299 Transcript missense_variant 1217/2785 701/900 234/299 R/M aGg/aTg 1 -1 SLC25A21 HGNC HGNC:14411 protein_coding YES CCDS9663.1 ENSP00000329452 Q9BQT8 UPI0000130BCE NM_030631.3 deleterious(0) probably_damaging(0.999) 8/10 PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF390,Pfam_domain:PF00153,Gene3D:1.50.40.10,Superfamily_domains:SSF103506,Prints_domain:PR00926 MODERATE 1 SNV 1 PASS CCT . . 36684828 BMP4 . GRCh38 chr14 53950592 53950592 + Missense_Mutation SNP G G A rs373023560 7316-918 BS_84QXT7FR G G c.667C>T p.Arg223Cys p.R223C ENST00000245451 4/4 72 52 20 27 27 0 BMP4,missense_variant,p.Arg223Cys,ENST00000245451,NM_001202.4;BMP4,missense_variant,p.Arg223Cys,ENST00000417573,NM_130851.3;BMP4,missense_variant,p.Arg223Cys,ENST00000559087,NM_130850.3;BMP4,missense_variant,p.Arg223Cys,ENST00000558984,NM_001347914.1;BMP4,missense_variant,p.Arg160Cys,ENST00000559501,;BMP4,downstream_gene_variant,,ENST00000558961,;BMP4,downstream_gene_variant,,ENST00000559642,;BMP4,downstream_gene_variant,,ENST00000609748,;MIR5580,upstream_gene_variant,,ENST00000580850,;BMP4,downstream_gene_variant,,ENST00000558489,; A ENSG00000125378 ENST00000245451 Transcript missense_variant 1061/1917 667/1227 223/408 R/C Cgc/Tgc rs373023560 1 -1 BMP4 HGNC HGNC:1071 protein_coding YES CCDS9715.1 ENSP00000245451 P12644 Q53XC5 UPI000000CC31 NM_001202.4 deleterious(0) probably_damaging(1) 4/4 hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF165,Pfam_domain:PF00688 MODERATE 1 SNV 1 1 PASS CGA . . 4.062e-06 8.955e-06 53950592 AL049833.1 . GRCh38 chr14 97119607 97119607 + Splice_Region SNP C C T novel 7316-918 BS_84QXT7FR C C n.406-8C>T ENST00000557745 78 70 7 33 31 0 AL049833.1,splice_region_variant,,ENST00000557745,;AL049833.2,upstream_gene_variant,,ENST00000556773,;AL049833.2,upstream_gene_variant,,ENST00000557211,; T ENSG00000258393 ENST00000557745 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 AL049833.1 Clone_based_ensembl_gene lincRNA YES 2/3 LOW 1 SNV 3 PASS CCT . . 97119607 UNC13C . GRCh38 chr15 54627046 54627046 + Missense_Mutation SNP G G T novel 7316-918 BS_84QXT7FR G G c.6578G>T p.Ser2193Ile p.S2193I ENST00000260323 32/32 77 71 6 33 33 0 UNC13C,missense_variant,p.Ser2193Ile,ENST00000260323,NM_001080534.1;UNC13C,missense_variant,p.Ser114Ile,ENST00000539562,;UNC13C,downstream_gene_variant,,ENST00000560537,; T ENSG00000137766 ENST00000260323 Transcript missense_variant 6578/12946 6578/6645 2193/2214 S/I aGt/aTt 1 1 UNC13C HGNC HGNC:23149 protein_coding YES CCDS45264.1 ENSP00000260323 Q8NB66 UPI0000DD82AB NM_001080534.1 deleterious_low_confidence(0) benign(0.188) 32/32 hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2 MODERATE 1 SNV 5 PASS AGT . . 54627046 CES1 . GRCh38 chr16 55828912 55828912 + Missense_Mutation SNP C C T rs3826192 7316-918 BS_84QXT7FR C C c.115G>A p.Val39Ile p.V39I ENST00000360526 2/14 83 70 13 40 39 1 CES1,missense_variant,p.Val38Ile,ENST00000422046,NM_001266.4;CES1,missense_variant,p.Val39Ile,ENST00000360526,NM_001025195.1;CES1,missense_variant,p.Val38Ile,ENST00000361503,NM_001025194.1;CES1,upstream_gene_variant,,ENST00000566555,;CES1,intron_variant,,ENST00000563005,;CES1,intron_variant,,ENST00000565403,; T ENSG00000198848 ENST00000360526 Transcript missense_variant 218/2006 115/1707 39/568 V/I Gtc/Atc rs3826192,COSM4598749,COSM4422956 1 -1 CES1 HGNC HGNC:1863 protein_coding YES CCDS32450.1 ENSP00000353720 P23141 UPI000054B390 NM_001025195.1 tolerated(0.35) benign(0.006) 2/14 cd00312,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF361,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ACG . . 0.2143 0.284 0.156 0.2393 0.02243 0.3359 0.2713 0.2143 0.1014 55828912 KRT16P3 . GRCh38 chr17 20501765 20501766 + Splice_Site DEL TG TG - rs570876887 7316-918 BS_84QXT7FR TG TG n.1689-3_1689-2del ENST00000580621 42 26 13 11 11 0 KRT16P3,downstream_gene_variant,,ENST00000580113,;KRT16P3,splice_acceptor_variant,,ENST00000580621,;KRT16P3,non_coding_transcript_exon_variant,,ENST00000584759,;,regulatory_region_variant,,ENSR00000282736,;KRT16P3,splice_acceptor_variant,,ENST00000439127,; - ENSG00000214822 ENST00000580621 Transcript splice_acceptor_variant,intron_variant,non_coding_transcript_variant rs570876887 1 -1 KRT16P3 HGNC HGNC:37808 retained_intron YES 6/6 0.0140 0.0272 0.0086 0.001 0.0109 0.0164 HIGH 1 deletion 1 PASS ACTGT . . 20501764 MRPL45P2 . GRCh38 chr17 47486887 47486888 + Splice_Region INS - - A rs552993254 7316-918 BS_84QXT7FR - - n.386-4dup ENST00000575291 35 24 10 14 13 0 MRPL45P2,splice_region_variant,,ENST00000575291,;MRPL45P2,intron_variant,,ENST00000425159,;MRPL45P2,intron_variant,,ENST00000572695,;MRPL45P2,intron_variant,,ENST00000573318,; A ENSG00000228782 ENST00000575291 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs552993254 1 -1 MRPL45P2 HGNC HGNC:29716 processed_transcript YES 3/6 LOW 1 insertion 1 PASS TCA . . 47486887 HOOK2 . GRCh38 chr19 12765988 12765988 + Missense_Mutation SNP A A T novel 7316-918 BS_84QXT7FR A A c.1538T>A p.Leu513Gln p.L513Q ENST00000397668 16/23 53 38 15 33 33 0 HOOK2,missense_variant,p.Leu513Gln,ENST00000264827,NM_001100176.1;HOOK2,missense_variant,p.Leu513Gln,ENST00000397668,NM_013312.2;HOOK2,downstream_gene_variant,,ENST00000589400,;HOOK2,downstream_gene_variant,,ENST00000592079,;HOOK2,intron_variant,,ENST00000589965,;HOOK2,non_coding_transcript_exon_variant,,ENST00000592259,;HOOK2,non_coding_transcript_exon_variant,,ENST00000591839,;HOOK2,non_coding_transcript_exon_variant,,ENST00000589398,;HOOK2,intron_variant,,ENST00000586188,;HOOK2,upstream_gene_variant,,ENST00000586710,;HOOK2,upstream_gene_variant,,ENST00000589915,;,regulatory_region_variant,,ENSR00000287482,; T ENSG00000095066 ENST00000397668 Transcript missense_variant 1612/2513 1538/2160 513/719 L/Q cTg/cAg 1 -1 HOOK2 HGNC HGNC:19885 protein_coding YES CCDS42508.1 ENSP00000380785 Q96ED9 UPI00003D0BC0 NM_013312.2 deleterious(0) probably_damaging(0.996) 16/23 Gene3D:1.20.1170.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05622,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF37 MODERATE 1 SNV 1 PASS CAG . . 12765988 ZNF90 . GRCh38 chr19 20118525 20118525 + Missense_Mutation SNP T T G rs782115581 7316-918 BS_84QXT7FR T T c.971T>G p.Leu324Arg p.L324R ENST00000418063 4/4 59 41 10 24 21 1 ZNF90,missense_variant,p.Leu324Arg,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; G ENSG00000213988 ENST00000418063 Transcript missense_variant 1083/2310 971/1806 324/601 L/R cTc/cGc rs782115581 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(0.66) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CTC . . 20118525 ZNF681 . GRCh38 chr19 23743770 23743770 + Missense_Mutation SNP T T C rs796612733 7316-918 BS_84QXT7FR T T c.1780A>G p.Lys594Glu p.K594E ENST00000402377 4/4 76 61 14 27 26 0 ZNF681,missense_variant,p.Lys594Glu,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; C ENSG00000196172 ENST00000402377 Transcript missense_variant 1922/6497 1780/1938 594/645 K/E Aaa/Gaa rs796612733,COSM6237827,COSM6237826 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 tolerated(1) benign(0.006) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TTT . . 23743770 KMT2B . GRCh38 chr19 35737085 35737085 + Splice_Site SNP G G T novel 7316-918 BS_84QXT7FR G G c.7373-1G>T p.X2458_splice ENST00000420124 80 63 15 25 24 0 KMT2B,splice_acceptor_variant,,ENST00000420124,NM_014727.2;IGFLR1,downstream_gene_variant,,ENST00000246532,;IGFLR1,downstream_gene_variant,,ENST00000586140,;IGFLR1,downstream_gene_variant,,ENST00000588992,;IGFLR1,downstream_gene_variant,,ENST00000591277,;IGFLR1,downstream_gene_variant,,ENST00000591748,;IGFLR1,downstream_gene_variant,,ENST00000592537,NM_024660.2;IGFLR1,downstream_gene_variant,,ENST00000592889,;IGFLR1,downstream_gene_variant,,ENST00000587101,;KMT2B,splice_acceptor_variant,,ENST00000585476,;KMT2B,splice_acceptor_variant,,ENST00000592092,;KMT2B,upstream_gene_variant,,ENST00000586308,;IGFLR1,downstream_gene_variant,,ENST00000588018,;IGFLR1,downstream_gene_variant,,ENST00000589175,;AD000671.2,downstream_gene_variant,,ENST00000589807,;IGFLR1,downstream_gene_variant,,ENST00000592693,; T ENSG00000272333 ENST00000420124 Transcript splice_acceptor_variant 1 1 KMT2B HGNC HGNC:15840 protein_coding YES CCDS46055.1 ENSP00000398837 Q9UMN6 UPI00001376B5 NM_014727.2 32/36 HIGH 1 SNV 1 1 PASS AGG . . 35737085 PSMD8 . GRCh38 chr19 38380933 38380934 + In_Frame_Ins INS - - TTTTAATGATAC rs1410120058 7316-918 BS_84QXT7FR - - c.737_738insTTTTAATGATAC p.Leu246_Ala247insPheAsnAspThr p.L246_A247insFNDT ENST00000215071 5/7 70 57 9 20 20 0 PSMD8,inframe_insertion,p.Leu79_Ala80insPheAsnAspThr,ENST00000592035,;PSMD8,inframe_insertion,p.Leu246_Ala247insPheAsnAspThr,ENST00000215071,;PSMD8,inframe_insertion,p.Leu246_Ala247insPheAsnAspThr,ENST00000620216,NM_002812.4;PSMD8,inframe_insertion,p.Leu183_Ala184insPheAsnAspThr,ENST00000602911,;PSMD8,inframe_insertion,p.Leu183_Ala184insPheAsnAspThr,ENST00000592561,;PSMD8,intron_variant,,ENST00000585598,;GGN,downstream_gene_variant,,ENST00000334928,NM_152657.3;PSMD8,downstream_gene_variant,,ENST00000591250,;AC005789.1,upstream_gene_variant,,ENST00000585411,;GGN,downstream_gene_variant,,ENST00000591809,;PSMD8,inframe_insertion,p.Leu12_Ala13insPheAsnAspThr,ENST00000590331,;PSMD8,non_coding_transcript_exon_variant,,ENST00000592001,;GGN,downstream_gene_variant,,ENST00000585737,;PSMD8,downstream_gene_variant,,ENST00000591216,; TTTTAATGATAC ENSG00000099341 ENST00000215071 Transcript inframe_insertion 803-804/1553 737-738/1053 246/350 L/LFNDT ctg/ctTTTTAATGATACg rs1410120058 1 1 PSMD8 HGNC HGNC:9566 protein_coding YES CCDS12515.2 ENSP00000215071 P48556 V9HW09 UPI000059D712 5/7 PDB-ENSP_mappings:5gjq.T,PDB-ENSP_mappings:5gjr.7,PDB-ENSP_mappings:5gjr.T,PDB-ENSP_mappings:5l4k.T,PDB-ENSP_mappings:5ln3.T,PDB-ENSP_mappings:5m32.r,PDB-ENSP_mappings:5t0c.Ad,PDB-ENSP_mappings:5t0c.Bd,PDB-ENSP_mappings:5t0g.d,PDB-ENSP_mappings:5t0h.d,PDB-ENSP_mappings:5t0i.d,PDB-ENSP_mappings:5t0j.d,PDB-ENSP_mappings:5vgz.d,PDB-ENSP_mappings:5vhf.d,PDB-ENSP_mappings:5vhh.d,PDB-ENSP_mappings:5vhi.d,PDB-ENSP_mappings:5vhs.d,Pfam_domain:PF10075,hmmpanther:PTHR12387 MODERATE 1 insertion 1 PASS CTG . . 1.507e-05 3.403e-05 2.357e-05 38380933 PSMD8 . GRCh38 chr19 38380939 38380950 + In_Frame_Del DEL AGGGTAACATCC AGGGTAACATCC - rs1202827236 7316-918 BS_84QXT7FR AGGGTAACATCC AGGGTAACATCC c.743_754del p.Lys248_Pro252delinsThr p.K248_P252delinsT ENST00000215071 5/7 74 65 9 24 24 0 PSMD8,inframe_deletion,p.Lys81_Pro85delinsThr,ENST00000592035,;PSMD8,inframe_deletion,p.Lys248_Pro252delinsThr,ENST00000215071,;PSMD8,inframe_deletion,p.Lys248_Pro252delinsThr,ENST00000620216,NM_002812.4;PSMD8,inframe_deletion,p.Lys185_Pro189delinsThr,ENST00000602911,;PSMD8,inframe_deletion,p.Lys185_Pro189delinsThr,ENST00000592561,;PSMD8,intron_variant,,ENST00000585598,;GGN,downstream_gene_variant,,ENST00000334928,NM_152657.3;PSMD8,downstream_gene_variant,,ENST00000591250,;AC005789.1,upstream_gene_variant,,ENST00000585411,;GGN,downstream_gene_variant,,ENST00000591809,;PSMD8,inframe_deletion,p.Lys14_Pro18delinsThr,ENST00000590331,;PSMD8,non_coding_transcript_exon_variant,,ENST00000592001,;GGN,downstream_gene_variant,,ENST00000585737,;PSMD8,downstream_gene_variant,,ENST00000591216,; - ENSG00000099341 ENST00000215071 Transcript inframe_deletion 809-820/1553 743-754/1053 248-252/350 KGNIP/T aAGGGTAACATCCcc/acc rs1202827236 1 1 PSMD8 HGNC HGNC:9566 protein_coding YES CCDS12515.2 ENSP00000215071 P48556 V9HW09 UPI000059D712 5/7 PDB-ENSP_mappings:5gjq.T,PDB-ENSP_mappings:5gjr.7,PDB-ENSP_mappings:5gjr.T,PDB-ENSP_mappings:5l4k.T,PDB-ENSP_mappings:5ln3.T,PDB-ENSP_mappings:5m32.r,PDB-ENSP_mappings:5t0c.Ad,PDB-ENSP_mappings:5t0c.Bd,PDB-ENSP_mappings:5t0g.d,PDB-ENSP_mappings:5t0h.d,PDB-ENSP_mappings:5t0i.d,PDB-ENSP_mappings:5t0j.d,PDB-ENSP_mappings:5vgz.d,PDB-ENSP_mappings:5vhf.d,PDB-ENSP_mappings:5vhh.d,PDB-ENSP_mappings:5vhi.d,PDB-ENSP_mappings:5vhs.d,Pfam_domain:PF10075,hmmpanther:PTHR12387 MODERATE 1 deletion 1 PASS CAAGGGTAACATCCC . . 2.501e-05 8.734e-05 6.767e-05 2.348e-05 38380938 KIR3DL1 . GRCh38 chr19 54830144 54830144 + Missense_Mutation SNP G G A rs201105125 7316-918 BS_84QXT7FR G G c.1204G>A p.Asp402Asn p.D402N ENST00000391728 9/9 87 79 6 27 27 0 KIR3DL1,missense_variant,p.Asp402Asn,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Asp385Asn,ENST00000326542,;KIR3DL1,missense_variant,p.Asp307Asn,ENST00000358178,;KIR2DS4,upstream_gene_variant,,ENST00000339924,;KIR2DS4,upstream_gene_variant,,ENST00000391729,NM_001281971.1,NM_001281972.1; A ENSG00000167633 ENST00000391728 Transcript missense_variant 1237/1871 1204/1335 402/444 D/N Gat/Aat rs201105125,COSM4392265 1 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629 Q5UCE2 UPI000012DB24 NM_013289.2 tolerated(0.42) benign(0.007) 9/9 0.0024 0.0038 0.0014 0.005 0.001 0,1 MODERATE 1 SNV 1 0,1 1 PASS GGA . . 9.089e-05 0.0006676 0.0002549 1.881e-05 0.000194 54830144 FAM9C . GRCh38 chrX 13040836 13040836 + Missense_Mutation SNP C C T novel 7316-918 BS_84QXT7FR C C c.251G>A p.Arg84Lys p.R84K ENST00000333995 5/7 41 36 5 16 16 0 FAM9C,missense_variant,p.Arg84Lys,ENST00000333995,;FAM9C,missense_variant,p.Arg84Lys,ENST00000380625,NM_174901.5;FAM9C,missense_variant,p.Arg44Lys,ENST00000438997,;FAM9C,3_prime_UTR_variant,,ENST00000542843,;FAM9C,non_coding_transcript_exon_variant,,ENST00000468287,; T ENSG00000187268 ENST00000333995 Transcript missense_variant 382/3361 251/501 84/166 R/K aGg/aAg 1 -1 FAM9C HGNC HGNC:18405 protein_coding YES CCDS35203.1 ENSP00000334430 Q8IZT9 A0A024RBW5 UPI000012A41A tolerated(0.17) benign(0.012) 5/7 Low_complexity_(Seg):seg,hmmpanther:PTHR19368,hmmpanther:PTHR19368:SF6,Pfam_domain:PF04803 MODERATE 1 SNV 1 PASS CCT . . 13040836 TEX13C . GRCh38 chrX 125322774 125322774 + Missense_Mutation SNP T T G rs1470555305 7316-918 BS_84QXT7FR T T c.2655T>G p.Ile885Met p.I885M ENST00000632600 1/1 42 36 5 16 15 0 TEX13C,missense_variant,p.Ile885Met,ENST00000632600,NM_001195272.1;,regulatory_region_variant,,ENSR00000343318,;AL627231.1,downstream_gene_variant,,ENST00000394467,; G ENSG00000282815 ENST00000632600 Transcript missense_variant 2655/5095 2655/2982 885/993 I/M atT/atG rs1470555305 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.19) probably_damaging(0.969) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28 MODERATE 1 SNV PASS TTC . . 125322774 FMR1 . GRCh38 chrX 147937506 147937506 + Missense_Mutation SNP G G T novel 7316-918 BS_84QXT7FR G G c.1031G>T p.Arg344Met p.R344M ENST00000370475 11/17 36 22 14 14 14 0 FMR1,missense_variant,p.Arg344Met,ENST00000218200,NM_001185076.1;FMR1,missense_variant,p.Arg344Met,ENST00000370475,NM_002024.5;FMR1,missense_variant,p.Arg344Met,ENST00000440235,NM_001185082.1;FMR1,missense_variant,p.Arg344Met,ENST00000370471,NM_001185075.1,NM_001185081.1;FMR1,missense_variant,p.Arg342Met,ENST00000439526,;FMR1,missense_variant,p.Arg344Met,ENST00000370477,;FMR1,missense_variant,p.Arg344Met,ENST00000370470,;FMR1,missense_variant,p.Arg344Met,ENST00000616382,;FMR1,intron_variant,,ENST00000621453,;FMR1,downstream_gene_variant,,ENST00000334557,;FMR1,downstream_gene_variant,,ENST00000495717,;FMR1,downstream_gene_variant,,ENST00000621987,;FMR1,3_prime_UTR_variant,,ENST00000616614,;FMR1,non_coding_transcript_exon_variant,,ENST00000620828,;FMR1,downstream_gene_variant,,ENST00000475038,;FMR1,upstream_gene_variant,,ENST00000492846,;FMR1,upstream_gene_variant,,ENST00000611273,;FMR1,downstream_gene_variant,,ENST00000643620,; T ENSG00000102081 ENST00000370475 Transcript missense_variant 1159/4308 1031/1899 344/632 R/M aGg/aTg 1 1 FMR1 HGNC HGNC:3775 protein_coding YES CCDS14682.1 ENSP00000359506 Q06787 UPI000012AACA NM_002024.5 tolerated_low_confidence(0.06) possibly_damaging(0.898) 11/17 mobidb-lite,hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF4,Gene3D:3.30.1370.10,SMART_domains:SM00322 MODERATE 1 SNV 1 1 PASS AGG . . 147937506 ZMYM4 . GRCh38 chr1 35269088 35269088 + Splice_Region SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.39+3A>C ENST00000314607 88 75 8 39 38 0 ZMYM4,splice_region_variant,,ENST00000314607,NM_005095.2,NM_001350138.1;ZMYM4,splice_region_variant,,ENST00000441447,;,regulatory_region_variant,,ENSR00000004658,; C ENSG00000146463 ENST00000314607 Transcript splice_region_variant,intron_variant 1 1 ZMYM4 HGNC HGNC:13055 protein_coding YES CCDS389.1 ENSP00000322915 Q5VZL5 UPI0000203EE6 NM_005095.2,NM_001350138.1 1/29 LOW 1 SNV 2 PASS TAG . . 35269088 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 70 48 15 35 34 0 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 TCHH . GRCh38 chr1 152108278 152108278 + Missense_Mutation SNP C C G rs550198724 7316-2181 BS_ZZHCTPFR C C c.4939G>C p.Glu1647Gln p.E1647Q ENST00000614923 3/3 73 63 8 56 52 1 TCHH,missense_variant,p.Glu1647Gln,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Glu1647Gln,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 5034/6995 4939/5832 1647/1943 E/Q Gag/Cag rs550198724 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.13) benign(0.19) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,hmmpanther:PTHR34855 0.0002 0.0008 MODERATE 1 SNV 5 1 PASS TCG . . 8.937e-05 8.936e-05 0.0009278 2.686e-05 152108278 TCHH . GRCh38 chr1 152111880 152111880 + Missense_Mutation SNP C C T rs757600930 7316-2181 BS_ZZHCTPFR C C c.1337G>A p.Arg446Gln p.R446Q ENST00000614923 3/3 49 38 5 37 31 0 TCHH,missense_variant,p.Arg446Gln,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg446Gln,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 1432/6995 1337/5832 446/1943 R/Q cGg/cAg rs757600930,COSM5956933 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 benign(0.037) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,Gene3D:1.10.238.10 0,1 MODERATE 1 SNV 5 0,1 1 PASS CCG . . 152111880 BCAN . GRCh38 chr1 156656308 156656308 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.1969A>C p.Asn657His p.N657H ENST00000329117 9/14 77 60 9 35 32 0 BCAN,missense_variant,p.Asn657His,ENST00000329117,NM_021948.4;BCAN,downstream_gene_variant,,ENST00000361588,NM_198427.1;AL590666.2,intron_variant,,ENST00000448869,;BCAN,downstream_gene_variant,,ENST00000479949,;BCAN,downstream_gene_variant,,ENST00000491823,;BCAN,upstream_gene_variant,,ENST00000496038,; C ENSG00000132692 ENST00000329117 Transcript missense_variant 2305/3466 1969/2736 657/911 N/H Aat/Cat 1 1 BCAN HGNC HGNC:23059 protein_coding YES CCDS1149.1 ENSP00000331210 Q96GW7 UPI000006F0E9 NM_021948.4 deleterious(0) possibly_damaging(0.813) 9/14 cd00054,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00181,PROSITE_profiles:PS50026,hmmpanther:PTHR22804:SF41,hmmpanther:PTHR22804 MODERATE 1 SNV 1 PASS CAA . . 156656308 PPM1G . GRCh38 chr2 27409307 27409307 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.116T>G p.Met39Arg p.M39R ENST00000344034 1/10 105 93 10 49 48 1 PPM1G,missense_variant,p.Met39Arg,ENST00000344034,NM_177983.2;PPM1G,non_coding_transcript_exon_variant,,ENST00000472077,;PPM1G,non_coding_transcript_exon_variant,,ENST00000484925,;,regulatory_region_variant,,ENSR00000114421,; C ENSG00000115241 ENST00000344034 Transcript missense_variant 381/2311 116/1641 39/546 M/R aTg/aGg 1 -1 PPM1G HGNC HGNC:9278 protein_coding YES CCDS1752.1 ENSP00000342778 O15355 Q6IAU5 UPI000000106E NM_177983.2 deleterious(0.01) possibly_damaging(0.855) 1/10 Gene3D:3.60.40.10,Pfam_domain:PF00481,PROSITE_profiles:PS51746,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF544,SMART_domains:SM00332,Superfamily_domains:SSF81606,cd00143 MODERATE 1 SNV 1 PASS CAT . . 27409307 METAP1D . GRCh38 chr2 171999970 171999970 + Translation_Start_Site SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.1A>C p.Met1? p.M1? ENST00000315796 1/10 106 98 7 44 44 0 METAP1D,start_lost,p.Met1?,ENST00000315796,NM_001322278.1,NM_001322279.1,NM_199227.2;METAP1D,non_coding_transcript_exon_variant,,ENST00000493035,;METAP1D,non_coding_transcript_exon_variant,,ENST00000493742,;SLC25A12,upstream_gene_variant,,ENST00000464063,;SLC25A12,upstream_gene_variant,,ENST00000472748,;SLC25A12,upstream_gene_variant,,ENST00000484227,;,regulatory_region_variant,,ENSR00000126247,;,TF_binding_site_variant,,MA0095.2,; C ENSG00000172878 ENST00000315796 Transcript start_lost 388/3419 1/1008 1/335 M/L Atg/Ctg 1 1 METAP1D HGNC HGNC:32583 protein_coding YES CCDS2246.1 ENSP00000315152 Q6UB28 UPI00001AF10C NM_001322278.1,NM_001322279.1,NM_199227.2 tolerated_low_confidence(0.11) benign(0.267) 1/10 HIGH 1 SNV 1 PASS CAT . . 171999970 B3GNT7 . GRCh38 chr2 231395805 231395805 + Translation_Start_Site SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.2T>G p.Met1? p.M1? ENST00000287590 1/2 86 65 14 34 34 0 B3GNT7,start_lost,p.Met1?,ENST00000287590,NM_145236.2;AC017104.1,downstream_gene_variant,,ENST00000415129,;AC017104.1,downstream_gene_variant,,ENST00000454416,;B3GNT7,upstream_gene_variant,,ENST00000479618,;AC017104.1,downstream_gene_variant,,ENST00000418050,;,regulatory_region_variant,,ENSR00000131820,; G ENSG00000156966 ENST00000287590 Transcript start_lost 263/3706 2/1206 1/401 M/R aTg/aGg 1 1 B3GNT7 HGNC HGNC:18811 protein_coding YES CCDS46540.1 ENSP00000287590 Q8NFL0 UPI000006D18A NM_145236.2 deleterious_low_confidence(0) benign(0.059) 1/2 HIGH 1 SNV 1 PASS ATG . . 231395805 BSN . GRCh38 chr3 49554736 49554736 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.134A>C p.Gln45Pro p.Q45P ENST00000296452 1/12 43 34 8 45 43 0 BSN,missense_variant,p.Gln45Pro,ENST00000296452,NM_003458.3;BSN-DT,upstream_gene_variant,,ENST00000421598,;BSN-DT,upstream_gene_variant,,ENST00000433882,;,regulatory_region_variant,,ENSR00000152242,; C ENSG00000164061 ENST00000296452 Transcript missense_variant 248/15955 134/11781 45/3926 Q/P cAg/cCg 1 1 BSN HGNC HGNC:1117 protein_coding YES CCDS2800.1 ENSP00000296452 Q9UPA5 UPI000013E33C NM_003458.3 tolerated_low_confidence(0.09) probably_damaging(0.954) 1/12 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CAG . . 49554736 DUSP7 . GRCh38 chr3 52056365 52056365 + Translation_Start_Site SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.2T>G p.Met1? p.M1? ENST00000495880 1/3 43 37 6 32 30 0 DUSP7,start_lost,p.Met1?,ENST00000495880,NM_001947.3;DUSP7,upstream_gene_variant,,ENST00000469623,;,regulatory_region_variant,,ENSR00000152478,; C ENSG00000164086 ENST00000495880 Transcript start_lost 186/3340 2/1260 1/419 M/R aTg/aGg 1 -1 DUSP7 HGNC HGNC:3073 protein_coding YES CCDS33766.2 ENSP00000417183 Q16829 UPI0000185FA8 NM_001947.3 benign(0.001) 1/3 mobidb-lite HIGH 1 SNV 1 PASS CAT . . 52056365 MUC4 . GRCh38 chr3 195785623 195785623 + Missense_Mutation SNP G G T 7316-2181 BS_ZZHCTPFR G G c.5957C>A p.Pro1986His p.P1986H ENST00000463781 2/25 50 34 7 32 30 0 MUC4,missense_variant,p.Pro1986His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro1986His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro1986His,ENST00000478156,;MUC4,missense_variant,p.Pro1986His,ENST00000466475,;MUC4,missense_variant,p.Pro1986His,ENST00000477756,;MUC4,missense_variant,p.Pro1986His,ENST00000477086,;MUC4,missense_variant,p.Pro1986His,ENST00000480843,;MUC4,missense_variant,p.Pro1986His,ENST00000462323,;MUC4,missense_variant,p.Pro1986His,ENST00000470451,;MUC4,missense_variant,p.Pro1986His,ENST00000479406,;,regulatory_region_variant,,ENSR00000308218,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 6417/17110 5957/16239 1986/5412 P/H cCt/cAt COSM6993737 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.16) benign(0.102) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS AGG . . 195785623 AC108467.1 . GRCh38 chr4 45022785 45022785 + Splice_Region SNP G G C novel 7316-2181 BS_ZZHCTPFR G G n.257+5G>C ENST00000515623 76 66 8 44 41 0 AC108467.1,splice_region_variant,,ENST00000515623,; C ENSG00000248744 ENST00000515623 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 AC108467.1 Clone_based_ensembl_gene lincRNA YES 3/5 LOW 1 SNV 3 PASS AGA . . 45022785 WWC2 . GRCh38 chr4 183099493 183099493 + Translation_Start_Site SNP T T G rs757290763 7316-2181 BS_ZZHCTPFR T T c.2T>G p.Met1? p.M1? ENST00000403733 1/23 76 64 7 51 50 1 WWC2,start_lost,p.Met1?,ENST00000403733,NM_024949.5;WWC2,start_lost,p.Met1?,ENST00000448232,;WWC2,start_lost,p.Met1?,ENST00000513834,;WWC2-AS2,upstream_gene_variant,,ENST00000578387,;AC019193.2,upstream_gene_variant,,ENST00000610012,;WWC2,start_lost,p.Met1?,ENST00000508614,;,regulatory_region_variant,,ENSR00000176764,; G ENSG00000151718 ENST00000403733 Transcript start_lost 201/8826 2/3579 1/1192 M/R aTg/aGg rs757290763 1 1 WWC2 HGNC HGNC:24148 protein_coding YES CCDS34109.2 ENSP00000384222 Q6AWC2 UPI000022C4C2 NM_024949.5 deleterious(0) benign(0.133) 1/23 hmmpanther:PTHR14791:SF26,hmmpanther:PTHR14791 HIGH 1 SNV 5 PASS ATG . . 2.677e-05 3.851e-05 6.237e-05 183099493 ANKRD33B . GRCh38 chr5 10564469 10564469 + Translation_Start_Site SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.2T>G p.Met1? p.M1? ENST00000296657 1/4 80 66 9 44 43 0 ANKRD33B,start_lost,p.Met1?,ENST00000296657,NM_001164440.1;ANKRD33B,start_lost,p.Met1?,ENST00000504806,;,regulatory_region_variant,,ENSR00000178107,; G ENSG00000164236 ENST00000296657 Transcript start_lost 2/9188 2/1485 1/494 M/R aTg/aGg 1 1 ANKRD33B HGNC HGNC:35240 protein_coding YES CCDS47191.1 ENSP00000296657 A6NCL7 UPI00001D7EE7 NM_001164440.1 deleterious_low_confidence(0) possibly_damaging(0.884) 1/4 mobidb-lite HIGH 1 SNV 5 PASS ATG . . 10564469 MUCL3 . GRCh38 chr6 30949611 30949611 + Missense_Mutation SNP C C A rs538677376 7316-2181 BS_ZZHCTPFR C C c.1147C>A p.His383Asn p.H383N ENST00000462446 2/3 63 49 9 49 48 1 MUCL3,missense_variant,p.His450Asn,ENST00000636043,;MUCL3,missense_variant,p.His383Asn,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 1175/5314 1147/4182 383/1393 H/N Cat/Aat rs538677376,COSM3774207 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.19) possibly_damaging(0.451) 2/3 mobidb-lite,hmmpanther:PTHR22094 0.0018 0.0015 0.004 0.002 0.001 0,1 MODERATE SNV 5 0,1 1 PASS ACA . . 6.773e-06 0.0001333 30949611 MUCL3 . GRCh38 chr6 30949797 30949797 + Nonsense_Mutation SNP A A T 7316-2181 BS_ZZHCTPFR A A c.1333A>T p.Arg445Ter p.R445* ENST00000462446 2/3 66 50 8 44 42 0 MUCL3,stop_gained,p.Arg512Ter,ENST00000636043,;MUCL3,stop_gained,p.Arg445Ter,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; T ENSG00000168631 ENST00000462446 Transcript stop_gained 1361/5314 1333/4182 445/1393 R/* Aga/Tga COSM3774208 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 2/3 mobidb-lite,hmmpanther:PTHR22094 1 HIGH SNV 5 1 1 PASS TAG . . 30949797 PGC . GRCh38 chr6 41743341 41743341 + Missense_Mutation SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.377A>C p.Asn126Thr p.N126T ENST00000373025 4/9 85 74 11 53 51 1 PGC,missense_variant,p.Asn126Thr,ENST00000373025,NM_002630.3;PGC,missense_variant,p.Asn126Thr,ENST00000425343,NM_001166424.1;PGC,intron_variant,,ENST00000356667,;PGC,downstream_gene_variant,,ENST00000415707,; G ENSG00000096088 ENST00000373025 Transcript missense_variant 440/1371 377/1167 126/388 N/T aAt/aCt 1 -1 PGC HGNC HGNC:8890 protein_coding YES CCDS4859.1 ENSP00000362116 P20142 UPI00001315CC NM_002630.3 tolerated(0.84) benign(0.014) 4/9 PROSITE_profiles:PS51767,cd05477,hmmpanther:PTHR13683:SF292,hmmpanther:PTHR13683,Gene3D:2.40.70.10,Pfam_domain:PF00026,Superfamily_domains:SSF50630 MODERATE 1 SNV 1 PASS ATT . . 41743341 KCNQ5 . GRCh38 chr6 73120501 73120501 + Missense_Mutation SNP G G A rs1190788387 7316-2181 BS_ZZHCTPFR G G c.1144G>A p.Ala382Thr p.A382T ENST00000342056 8/15 75 56 18 46 45 0 KCNQ5,missense_variant,p.Ala382Thr,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,missense_variant,p.Ala382Thr,ENST00000355635,;KCNQ5,missense_variant,p.Ala382Thr,ENST00000402622,;KCNQ5,missense_variant,p.Ala382Thr,ENST00000355194,;KCNQ5,missense_variant,p.Ala382Thr,ENST00000403813,;KCNQ5,missense_variant,p.Ala382Thr,ENST00000370398,NM_019842.3;KCNQ5,missense_variant,p.Ala382Thr,ENST00000414165,;KCNQ5,missense_variant,p.Ala382Thr,ENST00000628967,NM_001160134.1;KCNQ5,missense_variant,p.Ala382Thr,ENST00000629977,NM_001160130.1;KCNQ5,missense_variant,p.Ala382Thr,ENST00000370392,;KCNQ5,upstream_gene_variant,,ENST00000427928,; A ENSG00000185760 ENST00000342056 Transcript missense_variant 1542/6688 1144/2856 382/951 A/T Gca/Aca rs1190788387,COSM4382744,COSM4382743,COSM4382742 1 1 KCNQ5 HGNC HGNC:6299 protein_coding YES CCDS55034.1 ENSP00000345055 Q9NR82 UPI000155D644 NM_001160132.1,NM_001160133.1 deleterious(0) probably_damaging(0.99) 8/15 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF128 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 1 PASS CGC . . 4.075e-06 0.0001833 73120501 ATG5 . GRCh38 chr6 106325523 106325523 + Splice_Region SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.-59+3A>C ENST00000369076 85 72 9 37 37 0 ATG5,splice_region_variant,,ENST00000360666,NM_001286111.1;ATG5,splice_region_variant,,ENST00000369076,NM_004849.3,NM_001286108.1;ATG5,splice_region_variant,,ENST00000635758,NM_001286107.1;ATG5,splice_region_variant,,ENST00000636437,;ATG5,upstream_gene_variant,,ENST00000343245,NM_001286106.1;ATG5,splice_region_variant,,ENST00000369070,;ATG5,splice_region_variant,,ENST00000636335,;ATG5,splice_region_variant,,ENST00000646025,;,regulatory_region_variant,,ENSR00000200612,; G ENSG00000057663 ENST00000369076 Transcript splice_region_variant,intron_variant 1 -1 ATG5 HGNC HGNC:589 protein_coding YES CCDS5055.1 ENSP00000358072 Q9H1Y0 A9UGY9 UPI0000125C62 NM_004849.3,NM_001286108.1 1/7 LOW 1 SNV 1 1 PASS GTA . . 106325523 PEX7 . GRCh38 chr6 136822784 136822784 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.119A>C p.Tyr40Ser p.Y40S ENST00000318471 1/10 109 97 8 53 53 0 PEX7,missense_variant,p.Tyr40Ser,ENST00000318471,NM_000288.3;PEX7,missense_variant,p.Tyr40Ser,ENST00000541292,;PEX7,missense_variant,p.Tyr40Ser,ENST00000367756,;,regulatory_region_variant,,ENSR00000203552,; C ENSG00000112357 ENST00000318471 Transcript missense_variant 200/1464 119/972 40/323 Y/S tAc/tCc 1 1 PEX7 HGNC HGNC:8860 protein_coding YES CCDS5180.1 ENSP00000315680 O00628 Q6FGN1 UPI00001316F3 NM_000288.3 deleterious(0) probably_damaging(0.998) 1/10 Gene3D:2.130.10.10,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF188 MODERATE 1 SNV 1 1 PASS TAC . . 136822784 IL20RA . GRCh38 chr6 137044671 137044671 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.58T>G p.Leu20Val p.L20V ENST00000316649 1/7 90 80 7 47 47 0 IL20RA,missense_variant,p.Leu20Val,ENST00000316649,NM_014432.3;IL20RA,missense_variant,p.Leu20Val,ENST00000367746,;IL20RA,5_prime_UTR_variant,,ENST00000367748,NM_001278723.1,NM_001278724.1;IL20RA,5_prime_UTR_variant,,ENST00000468393,;IL20RA,upstream_gene_variant,,ENST00000541547,NM_001278722.1;IL20RA,upstream_gene_variant,,ENST00000635289,;IL20RA,upstream_gene_variant,,ENST00000461799,;IL20RA,missense_variant,p.Leu20Val,ENST00000460306,;,regulatory_region_variant,,ENSR00000203573,; C ENSG00000016402 ENST00000316649 Transcript missense_variant 294/3485 58/1662 20/553 L/V Ttg/Gtg 1 -1 IL20RA HGNC HGNC:6003 protein_coding YES CCDS5181.1 ENSP00000314976 Q9UHF4 UPI000006FA41 NM_014432.3 tolerated_low_confidence(0.66) benign(0.003) 1/7 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF21,Pfam_domain:PF01108 MODERATE 1 SNV 1 PASS AAC . . 137044671 PPP1R14C . GRCh38 chr6 150143193 150143193 + Translation_Start_Site SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.1A>C p.Met1? p.M1? ENST00000361131 1/4 83 76 7 42 42 0 PPP1R14C,start_lost,p.Met1?,ENST00000361131,NM_030949.2;,regulatory_region_variant,,ENSR00000205116,; C ENSG00000198729 ENST00000361131 Transcript start_lost 118/2152 1/498 1/165 M/L Atg/Ctg 1 1 PPP1R14C HGNC HGNC:14952 protein_coding YES CCDS5226.1 ENSP00000355260 Q8TAE6 UPI0000071936 NM_030949.2 tolerated_low_confidence(0.24) benign(0.014) 1/4 mobidb-lite,hmmpanther:PTHR16188,hmmpanther:PTHR16188:SF6 HIGH 1 SNV 1 PASS CAT . . 150143193 ARID1B . GRCh38 chr6 156778342 156778342 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.413A>C p.Asn138Thr p.N138T ENST00000346085 1/20 72 61 7 56 54 2 ARID1B,missense_variant,p.Asn138Thr,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Asn138Thr,ENST00000636930,;ARID1B,missense_variant,p.Asn138Thr,ENST00000350026,NM_017519.2;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000604082,;MIR4466,downstream_gene_variant,,ENST00000606121,;AL355297.4,non_coding_transcript_exon_variant,,ENST00000603191,;AL355297.2,downstream_gene_variant,,ENST00000604792,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; C ENSG00000049618 ENST00000346085 Transcript missense_variant 969/10194 413/6750 138/2249 N/T aAc/aCc 1 1 ARID1B HGNC HGNC:18040 protein_coding YES CCDS55072.1 ENSP00000344546 Q8NFD5 UPI000058E4B2 NM_020732.3 deleterious_low_confidence(0.01) benign(0.015) 1/20 mobidb-lite,hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:3.40.50.1980 MODERATE 1 SNV 1 1 PASS AAC . . 156778342 INTS1 . GRCh38 chr7 1476288 1476288 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.5319T>G p.Asp1773Glu p.D1773E ENST00000404767 38/48 89 79 9 49 48 1 INTS1,missense_variant,p.Asp1773Glu,ENST00000404767,NM_001080453.2;INTS1,upstream_gene_variant,,ENST00000483196,;INTS1,upstream_gene_variant,,ENST00000493446,;INTS1,upstream_gene_variant,,ENST00000479671,;INTS1,upstream_gene_variant,,ENST00000482994,;,regulatory_region_variant,,ENSR00000207611,; C ENSG00000164880 ENST00000404767 Transcript missense_variant 5405/6959 5319/6573 1773/2190 D/E gaT/gaG 1 -1 INTS1 HGNC HGNC:24555 protein_coding YES CCDS47526.1 ENSP00000385722 Q8N201 UPI0000D7211C NM_001080453.2 tolerated(1) benign(0.035) 38/48 Gene3D:1.25.10.10,hmmpanther:PTHR21224 MODERATE 1 SNV 5 PASS CAT . . 1476288 SDK1 . GRCh38 chr7 4017273 4017273 + Nonsense_Mutation SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.2523T>G p.Tyr841Ter p.Y841* ENST00000404826 17/45 57 49 8 38 37 0 SDK1,stop_gained,p.Tyr841Ter,ENST00000404826,NM_152744.3;SDK1,stop_gained,p.Tyr841Ter,ENST00000615806,;SDK1,stop_gained,p.Tyr841Ter,ENST00000389531,; G ENSG00000146555 ENST00000404826 Transcript stop_gained 2662/10397 2523/6642 841/2213 Y/* taT/taG 1 1 SDK1 HGNC HGNC:19307 protein_coding YES CCDS34590.1 ENSP00000385899 Q7Z5N4 UPI0000DBEEC4 NM_152744.3 17/45 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR44118,hmmpanther:PTHR44118:SF3,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 HIGH 1 SNV 1 PASS ATG . . 4017273 HOXA10 . GRCh38 chr7 27173494 27173494 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.813T>G p.Asp271Glu p.D271E ENST00000283921 1/2 109 94 12 38 37 0 HOXA10,missense_variant,p.Asp271Glu,ENST00000283921,NM_018951.3;HOXA10,missense_variant,p.Phe150Val,ENST00000613671,;HOXA10,intron_variant,,ENST00000396344,;AC004080.3,intron_variant,,ENST00000470747,;MIR196B,upstream_gene_variant,,ENST00000384852,;HOXA10-AS,downstream_gene_variant,,ENST00000519694,;HOXA10-AS,downstream_gene_variant,,ENST00000519935,;HOXA10-AS,downstream_gene_variant,,ENST00000523790,;HOXA9,intron_variant,,ENST00000465941,;HOXA9,upstream_gene_variant,,ENST00000487384,;HOXA9,upstream_gene_variant,,ENST00000489695,;HOXA9,upstream_gene_variant,,ENST00000497089,;HOXA10,upstream_gene_variant,,ENST00000519593,;HOXA10,upstream_gene_variant,,ENST00000521421,;HOXA10,upstream_gene_variant,,ENST00000524368,;,regulatory_region_variant,,ENSR00000209849,; C ENSG00000253293 ENST00000283921 Transcript missense_variant 813/2541 813/1233 271/410 D/E gaT/gaG 1 -1 HOXA10 HGNC HGNC:5100 protein_coding YES CCDS5410.2 ENSP00000283921 P31260 UPI0000EE42DA NM_018951.3 tolerated(1) benign(0) 1/2 mobidb-lite,Gene3D:1.10.10.60,hmmpanther:PTHR24326:SF52,hmmpanther:PTHR24326 MODERATE 1 SNV 1 PASS AAT . . 27173494 DPY19L1 . GRCh38 chr7 35037896 35037896 + Translation_Start_Site SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.1A>C p.Met1? p.M1? ENST00000310974 1/22 48 40 8 40 37 1 DPY19L1,start_lost,p.Met1?,ENST00000310974,NM_015283.1;DPY19L1,upstream_gene_variant,,ENST00000638088,;DPY19L1,intron_variant,,ENST00000481923,;,regulatory_region_variant,,ENSR00000210790,; G ENSG00000173852 ENST00000310974 Transcript start_lost 146/4870 1/2028 1/675 M/L Atg/Ctg 1 -1 DPY19L1 HGNC HGNC:22205 protein_coding YES CCDS43567.1 ENSP00000308695 Q2PZI1 UPI000067CB92 NM_015283.1 benign(0) 1/22 mobidb-lite HIGH 1 SNV 1 PASS ATT . . 35037896 CASTOR2 . GRCh38 chr7 75019070 75019070 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.610A>C p.Met204Leu p.M204L ENST00000616305 5/9 99 86 9 40 38 0 CASTOR2,missense_variant,p.Met204Leu,ENST00000616305,NM_001145064.2;CASTOR2,non_coding_transcript_exon_variant,,ENST00000622472,; C ENSG00000274070 ENST00000616305 Transcript missense_variant 778/1257 610/990 204/329 M/L Atg/Ctg 1 1 CASTOR2 HGNC HGNC:37073 protein_coding YES CCDS75620.1 ENSP00000484732 A6NHX0 UPI000013F134 NM_001145064.2 tolerated(0.89) benign(0.036) 5/9 hmmpanther:PTHR31131:SF11,hmmpanther:PTHR31131,Gene3D:3.30.2130.10,Prints_domain:PR02078 MODERATE 1 SNV 1 PASS CAT . . 75019070 VGF . GRCh38 chr7 101163196 101163196 + Missense_Mutation SNP T T G rs568635021 7316-2181 BS_ZZHCTPFR T T c.1648A>C p.Ile550Leu p.I550L ENST00000249330 2/2 62 55 6 32 30 0 VGF,missense_variant,p.Ile550Leu,ENST00000249330,NM_003378.3;VGF,missense_variant,p.Ile550Leu,ENST00000445482,;VGF,intron_variant,,ENST00000611537,;AP1S1,downstream_gene_variant,,ENST00000337619,NM_001283.3;AP1S1,downstream_gene_variant,,ENST00000429457,;AP1S1,downstream_gene_variant,,ENST00000646560,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000643104,;AP1S1,downstream_gene_variant,,ENST00000443943,;AP1S1,downstream_gene_variant,,ENST00000646950,;,regulatory_region_variant,,ENSR00000215902,; G ENSG00000128564 ENST00000249330 Transcript missense_variant 1888/2575 1648/1848 550/615 I/L Atc/Ctc rs568635021 1 -1 VGF HGNC HGNC:12684 protein_coding YES CCDS5712.1 ENSP00000249330 O15240 UPI000006FC7B NM_003378.3 tolerated_low_confidence(0.08) benign(0.42) 2/2 Gene3D:1.10.601.10,hmmpanther:PTHR15159,mobidb-lite 0.0002 0.001 MODERATE 1 SNV 1 PASS ATG . . 5.736e-06 5.249e-05 101163196 TRIM24 . GRCh38 chr7 138460549 138460549 + Translation_Start_Site SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.1A>C p.Met1? p.M1? ENST00000343526 1/19 79 65 11 48 47 0 TRIM24,start_lost,p.Met1?,ENST00000343526,NM_015905.2;TRIM24,start_lost,p.Met1?,ENST00000415680,NM_003852.3;TRIM24,upstream_gene_variant,,ENST00000497516,;,regulatory_region_variant,,ENSR00000218861,; C ENSG00000122779 ENST00000343526 Transcript start_lost 216/8410 1/3153 1/1050 M/L Atg/Ctg 1 1 TRIM24 HGNC HGNC:11812 protein_coding YES CCDS5847.1 ENSP00000340507 O15164 UPI00000012CB NM_015905.2 deleterious_low_confidence(0) benign(0.125) 1/19 HIGH 1 SNV 1 1 PASS AAT . . 138460549 CCAR2 . GRCh38 chr8 22615706 22615706 + Missense_Mutation SNP C C T novel 7316-2181 BS_ZZHCTPFR C C c.1402C>T p.Pro468Ser p.P468S ENST00000308511 13/21 63 57 5 47 47 0 CCAR2,missense_variant,p.Pro468Ser,ENST00000308511,;CCAR2,missense_variant,p.Pro468Ser,ENST00000389279,NM_021174.5;CCAR2,missense_variant,p.Pro143Ser,ENST00000520861,;CCAR2,missense_variant,p.Pro160Ser,ENST00000520738,;CCAR2,5_prime_UTR_variant,,ENST00000613179,;BIN3,downstream_gene_variant,,ENST00000276416,NM_018688.4;CCAR2,downstream_gene_variant,,ENST00000522599,;AC037459.3,non_coding_transcript_exon_variant,,ENST00000521025,;BIN3,downstream_gene_variant,,ENST00000520489,;CCAR2,upstream_gene_variant,,ENST00000520536,;CCAR2,downstream_gene_variant,,ENST00000521020,;CCAR2,upstream_gene_variant,,ENST00000521436,; T ENSG00000158941 ENST00000308511 Transcript missense_variant 1651/4853 1402/2772 468/923 P/S Cct/Tct 1 1 CCAR2 HGNC HGNC:23360 protein_coding YES CCDS34863.1 ENSP00000310670 Q8N163 UPI0000070A46 tolerated(0.66) benign(0) 13/21 mobidb-lite,hmmpanther:PTHR14304:SF12,hmmpanther:PTHR14304 MODERATE 1 SNV 1 PASS ACC . . 22615706 RIMS2 . GRCh38 chr8 103500927 103500927 + Missense_Mutation SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.41T>G p.Ile14Ser p.I14S ENST00000504942 1/24 79 72 6 52 51 0 RIMS2,missense_variant,p.Ile14Ser,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Ile14Ser,ENST00000632716,;AC012213.1,intron_variant,,ENST00000523422,;AC012213.1,upstream_gene_variant,,ENST00000517376,; G ENSG00000176406 ENST00000504942 Transcript missense_variant 180/4228 41/4050 14/1349 I/S aTc/aGc 1 1 RIMS2 HGNC HGNC:17283 protein_coding YES CCDS55269.1 ENSP00000427018 Q9UQ26 UPI0001597063 NM_001100117.2 tolerated_low_confidence(0.07) benign(0) 1/24 mobidb-lite MODERATE 1 SNV 2 PASS ATC . . 103500927 TONSL . GRCh38 chr8 144442288 144442288 + Missense_Mutation SNP T T G 7316-2181 BS_ZZHCTPFR T T c.703A>C p.Met235Leu p.M235L ENST00000409379 6/26 91 80 10 36 36 0 TONSL,missense_variant,p.Met235Leu,ENST00000409379,NM_013432.4;TONSL,missense_variant,p.Met76Leu,ENST00000613741,;TONSL-AS1,downstream_gene_variant,,ENST00000442850,;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,; G ENSG00000160949 ENST00000409379 Transcript missense_variant 733/4502 703/4137 235/1378 M/L Atg/Ctg COSM322019,COSM322020 1 -1 TONSL HGNC HGNC:7801 protein_coding YES CCDS34968.2 ENSP00000386239 Q96HA7 UPI0000424A3B NM_013432.4 tolerated(0.32) benign(0.001) 6/26 Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF31,SMART_domains:SM00028,Superfamily_domains:SSF48452 1,1 MODERATE 1 SNV 1 1,1 PASS ATG . . 144442288 ZNF250 . GRCh38 chr8 144881917 144881917 + Missense_Mutation SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.1281A>C p.Glu427Asp p.E427D ENST00000292579 6/6 79 68 8 53 50 0 ZNF250,missense_variant,p.Glu427Asp,ENST00000292579,NM_021061.4;ZNF250,missense_variant,p.Glu422Asp,ENST00000417550,NM_001109689.3;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,downstream_gene_variant,,ENST00000533221,;ZNF250,downstream_gene_variant,,ENST00000533622,;ZNF250,intron_variant,,ENST00000528258,;ZNF250,intron_variant,,ENST00000529780,;ZNF250,intron_variant,,ENST00000533543,; G ENSG00000196150 ENST00000292579 Transcript missense_variant 1398/6364 1281/1683 427/560 E/D gaA/gaC 1 -1 ZNF250 HGNC HGNC:13044 protein_coding YES CCDS34972.1 ENSP00000292579 P15622 UPI0000197F51 NM_021061.4 tolerated(0.1) benign(0.127) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF112,PROSITE_patterns:PS00028,Gene3D:2.20.28.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATT . . 144881917 DMRTA1 . GRCh38 chr9 22447374 22447374 + Missense_Mutation SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.309T>G p.His103Gln p.H103Q ENST00000325870 1/2 94 84 9 43 42 1 DMRTA1,missense_variant,p.His103Gln,ENST00000325870,NM_022160.2;,regulatory_region_variant,,ENSR00000234039,; G ENSG00000176399 ENST00000325870 Transcript missense_variant 534/5569 309/1515 103/504 H/Q caT/caG 1 1 DMRTA1 HGNC HGNC:13826 protein_coding YES CCDS6514.1 ENSP00000319651 Q5VZB9 UPI000014178A NM_022160.2 deleterious(0) probably_damaging(0.998) 1/2 PROSITE_profiles:PS50809,hmmpanther:PTHR12322:SF71,hmmpanther:PTHR12322,PROSITE_patterns:PS40000,Pfam_domain:PF00751,Gene3D:4.10.1040.10,SMART_domains:SM00301,Superfamily_domains:SSF82927 MODERATE 1 SNV 1 PASS ATG . . 22447374 CAAP1 . GRCh38 chr9 26892630 26892630 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.86T>G p.Val29Gly p.V29G ENST00000333916 1/6 93 85 7 38 37 0 CAAP1,missense_variant,p.Val29Gly,ENST00000333916,NM_024828.3;CAAP1,missense_variant,p.Val29Gly,ENST00000520187,;CAAP1,upstream_gene_variant,,ENST00000625311,NM_001167575.1;RN7SL100P,upstream_gene_variant,,ENST00000460565,;CAAP1,upstream_gene_variant,,ENST00000495958,;CAAP1,missense_variant,p.Val29Gly,ENST00000483493,;,regulatory_region_variant,,ENSR00000234125,; C ENSG00000120159 ENST00000333916 Transcript missense_variant 175/2791 86/1086 29/361 V/G gTa/gGa 1 -1 CAAP1 HGNC HGNC:25834 protein_coding YES CCDS6516.1 ENSP00000369431 Q9H8G2 UPI000013D280 NM_024828.3 deleterious_low_confidence(0) benign(0.374) 1/6 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAC . . 26892630 CLTA . GRCh38 chr9 36191118 36191118 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.62A>C p.Asn21Thr p.N21T ENST00000242285 1/7 87 75 9 38 38 0 CLTA,missense_variant,p.Asn21Thr,ENST00000433436,;CLTA,missense_variant,p.Asn21Thr,ENST00000538225,;CLTA,missense_variant,p.Asn21Thr,ENST00000242285,NM_007096.3;CLTA,missense_variant,p.Asn21Thr,ENST00000470744,NM_001184760.1;CLTA,missense_variant,p.Asn21Thr,ENST00000396603,NM_001076677.2;CLTA,missense_variant,p.Asn21Thr,ENST00000345519,NM_001184761.1,NM_001311203.1,NM_001833.3;CLTA,missense_variant,p.Asn21Thr,ENST00000540080,NM_001311206.1,NM_001184762.1;CLTA,missense_variant,p.Asn21Thr,ENST00000466396,NM_001311205.1,NM_001311204.1;CLTA,missense_variant,p.Asn21Thr,ENST00000464497,;CLTA,upstream_gene_variant,,ENST00000493185,;,regulatory_region_variant,,ENSR00000234754,; C ENSG00000122705 ENST00000242285 Transcript missense_variant 182/1152 62/747 21/248 N/T aAc/aCc 1 1 CLTA HGNC HGNC:2090 protein_coding YES CCDS6601.1 ENSP00000242285 P09496 UPI0000127A9E NM_007096.3 tolerated(0.25) probably_damaging(0.992) 1/7 Pfam_domain:PF01086,hmmpanther:PTHR10639,hmmpanther:PTHR10639:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 36191118 RASEF . GRCh38 chr9 83062866 83062866 + Translation_Start_Site SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.2T>G p.Met1? p.M1? ENST00000376447 1/17 120 104 14 38 38 0 RASEF,start_lost,p.Met1?,ENST00000376447,NM_152573.3;RASEF,start_lost,p.Met1?,ENST00000340717,;,regulatory_region_variant,,ENSR00000336264,; C ENSG00000165105 ENST00000376447 Transcript start_lost 263/5576 2/2223 1/740 M/R aTg/aGg 1 -1 RASEF HGNC HGNC:26464 protein_coding YES CCDS6662.1 ENSP00000365630 Q8IZ41 UPI0000074189 NM_152573.3 deleterious_low_confidence(0) benign(0.086) 1/17 hmmpanther:PTHR22621,hmmpanther:PTHR22621:SF6 HIGH 1 SNV 1 PASS CAT . . 83062866 SSNA1 . GRCh38 chr9 137188764 137188764 + Missense_Mutation SNP A A C 7316-2181 BS_ZZHCTPFR A A c.38A>C p.Asn13Thr p.N13T ENST00000322310 1/3 90 71 12 42 42 0 SSNA1,missense_variant,p.Asn13Thr,ENST00000322310,NM_003731.2;SSNA1,missense_variant,p.Asn13Thr,ENST00000464553,;ANAPC2,upstream_gene_variant,,ENST00000323927,NM_013366.3;TPRN,downstream_gene_variant,,ENST00000333046,;TPRN,downstream_gene_variant,,ENST00000409012,NM_001128228.2;TPRN,downstream_gene_variant,,ENST00000541945,;SSNA1,non_coding_transcript_exon_variant,,ENST00000459860,;SSNA1,non_coding_transcript_exon_variant,,ENST00000463511,;TPRN,downstream_gene_variant,,ENST00000477345,;ANAPC2,upstream_gene_variant,,ENST00000495611,;ANAPC2,upstream_gene_variant,,ENST00000618649,;,regulatory_region_variant,,ENSR00000243154,; C ENSG00000176101 ENST00000322310 Transcript missense_variant 118/896 38/360 13/119 N/T aAc/aCc COSM5410804 1 1 SSNA1 HGNC HGNC:11321 protein_coding YES CCDS7034.1 ENSP00000313752 O43805 A0A024R8G6 UPI0000140DC3 NM_003731.2 tolerated(0.17) benign(0.015) 1/3 Gene3D:1.20.5.340,blastprodom:PD968187,hmmpanther:PTHR28661 1 MODERATE 1 SNV 1 1 PASS AAC . . 137188764 MAPK8IP1 . GRCh38 chr11 45902728 45902728 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.961A>C p.Thr321Pro p.T321P ENST00000241014 5/12 70 60 8 49 48 1 MAPK8IP1,missense_variant,p.Thr311Pro,ENST00000395629,;MAPK8IP1,missense_variant,p.Thr321Pro,ENST00000241014,NM_005456.3;C11orf94,downstream_gene_variant,,ENST00000449465,NM_001080446.2;AC068385.1,downstream_gene_variant,,ENST00000533218,;MAPK8IP1,non_coding_transcript_exon_variant,,ENST00000497090,;C11orf94,downstream_gene_variant,,ENST00000632252,; C ENSG00000121653 ENST00000241014 Transcript missense_variant 1131/3050 961/2136 321/711 T/P Acg/Ccg 1 1 MAPK8IP1 HGNC HGNC:6882 protein_coding YES CCDS7916.1 ENSP00000241014 Q9UQF2 UPI000003046D NM_005456.3 tolerated(0.2) benign(0.143) 5/12 mobidb-lite MODERATE 1 SNV 1 1 PASS CAC . . 45902728 C2CD2L . GRCh38 chr11 119107906 119107906 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.165A>C p.Glu55Asp p.E55D ENST00000336702 1/14 72 58 12 49 48 1 C2CD2L,missense_variant,p.Glu55Asp,ENST00000336702,NM_001290474.1,NM_014807.4;DPAGT1,5_prime_UTR_variant,,ENST00000409993,;C2CD2L,upstream_gene_variant,,ENST00000528586,;C2CD2L,downstream_gene_variant,,ENST00000527854,;C2CD2L,downstream_gene_variant,,ENST00000528271,;C2CD2L,downstream_gene_variant,,ENST00000529600,;C2CD2L,downstream_gene_variant,,ENST00000529885,;C2CD2L,downstream_gene_variant,,ENST00000534024,;C2CD2L,upstream_gene_variant,,ENST00000525598,;C2CD2L,upstream_gene_variant,,ENST00000529874,;C2CD2L,upstream_gene_variant,,ENST00000533458,;,regulatory_region_variant,,ENSR00000045727,; C ENSG00000172375 ENST00000336702 Transcript missense_variant 524/4771 165/2124 55/707 E/D gaA/gaC 1 1 C2CD2L HGNC HGNC:29000 protein_coding YES CCDS8413.1 ENSP00000338885 O14523 UPI0000192105 NM_001290474.1,NM_014807.4 tolerated(0.33) benign(0.025) 1/14 hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF8,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 119107906 C1QL4 . GRCh38 chr12 49336324 49336324 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.154T>G p.Phe52Val p.F52V ENST00000334221 1/2 98 87 8 39 39 0 C1QL4,missense_variant,p.Phe52Val,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000257909,NM_005480.3;TROAP,downstream_gene_variant,,ENST00000547923,;TROAP,downstream_gene_variant,,ENST00000551245,;,regulatory_region_variant,,ENSR00000051609,; C ENSG00000186897 ENST00000334221 Transcript missense_variant 865/2071 154/717 52/238 F/V Ttc/Gtc 1 -1 C1QL4 HGNC HGNC:31416 protein_coding YES CCDS31793.1 ENSP00000335285 Q86Z23 UPI00000033B3 NM_001008223.1 tolerated(0.31) benign(0.001) 1/2 hmmpanther:PTHR22923,hmmpanther:PTHR22923:SF67,mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 49336324 NCKAP5L . GRCh38 chr12 49797291 49797291 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.569T>G p.Ile190Ser p.I190S ENST00000335999 8/13 85 72 9 43 43 0 NCKAP5L,missense_variant,p.Ile190Ser,ENST00000335999,NM_001037806.3;NCKAP5L,upstream_gene_variant,,ENST00000433948,;NCKAP5L,downstream_gene_variant,,ENST00000477361,;,regulatory_region_variant,,ENSR00000051671,; C ENSG00000167566 ENST00000335999 Transcript missense_variant 771/4900 569/4005 190/1334 I/S aTt/aGt 1 -1 NCKAP5L HGNC HGNC:29321 protein_coding YES CCDS41781.2 ENSP00000337998 Q9HCH0 UPI00006C1298 NM_001037806.3 deleterious(0) probably_damaging(0.999) 8/13 Gene3D:1.20.5.340,hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF3 MODERATE 1 SNV 5 PASS AAT . . 49797291 FAM186A . GRCh38 chr12 50353414 50353414 + Missense_Mutation SNP T T A 7316-2181 BS_ZZHCTPFR T T c.3418A>T p.Thr1140Ser p.T1140S ENST00000327337 4/8 49 30 9 46 40 0 FAM186A,missense_variant,p.Thr1140Ser,ENST00000543111,;FAM186A,missense_variant,p.Thr1140Ser,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; A ENSG00000185958 ENST00000327337 Transcript missense_variant 3418/7127 3418/7056 1140/2351 T/S Acc/Tcc COSM6278819 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 deleterious(0.03) benign(0.006) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 1 MODERATE 1 SNV 5 1 PASS GTC . . 50353414 INHBE . GRCh38 chr12 57455799 57455799 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.263A>C p.Asn88Thr p.N88T ENST00000266646 1/2 87 74 11 49 47 0 INHBE,missense_variant,p.Asn88Thr,ENST00000266646,NM_031479.3;INHBE,missense_variant,p.Asn33Thr,ENST00000547970,;GLI1,upstream_gene_variant,,ENST00000228682,NM_005269.2;INHBC,downstream_gene_variant,,ENST00000309668,NM_005538.3;GLI1,upstream_gene_variant,,ENST00000528432,;GLI1,upstream_gene_variant,,ENST00000532291,;GLI1,upstream_gene_variant,,ENST00000543426,NM_001160045.1;GLI1,upstream_gene_variant,,ENST00000546141,NM_001167609.1;INHBE,intron_variant,,ENST00000551553,;INHBE,upstream_gene_variant,,ENST00000553033,;GLI1,upstream_gene_variant,,ENST00000530789,;,regulatory_region_variant,,ENSR00000052663,; C ENSG00000139269 ENST00000266646 Transcript missense_variant 479/2429 263/1053 88/350 N/T aAt/aCt 1 1 INHBE HGNC HGNC:24029 protein_coding YES CCDS8939.1 ENSP00000266646 P58166 UPI000012D42C NM_031479.3 tolerated(0.32) benign(0.067) 1/2 hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF6 MODERATE 1 SNV 1 PASS AAT . . 57455799 AGAP2 . GRCh38 chr12 57737835 57737835 + Missense_Mutation SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.412A>C p.Thr138Pro p.T138P ENST00000547588 1/19 80 68 6 54 52 0 AGAP2,missense_variant,p.Thr2Pro,ENST00000328568,;AGAP2,missense_variant,p.Thr138Pro,ENST00000547588,NM_001122772.2;AGAP2,intron_variant,,ENST00000257897,NM_014770.3;TSPAN31,upstream_gene_variant,,ENST00000547311,;TSPAN31,upstream_gene_variant,,ENST00000550528,;TSPAN31,upstream_gene_variant,,ENST00000553221,;,regulatory_region_variant,,ENSR00000052697,; G ENSG00000135439 ENST00000547588 Transcript missense_variant 412/3579 412/3579 138/1192 T/P Acc/Ccc 1 -1 AGAP2 HGNC HGNC:16921 protein_coding YES CCDS44932.1 ENSP00000449241 F8VVT9 UPI00001AF80C NM_001122772.2 deleterious_low_confidence(0) benign(0.147) 1/19 mobidb-lite MODERATE 1 SNV 1 PASS GTG . . 57737835 PAWR . GRCh38 chr12 79690031 79690031 + Missense_Mutation SNP T T G rs1218976189 7316-2181 BS_ZZHCTPFR T T c.214A>C p.Asn72His p.N72H ENST00000328827 2/7 82 67 9 38 37 0 PAWR,missense_variant,p.Asn72His,ENST00000328827,NM_002583.2,NM_001354732.1;PAWR,missense_variant,p.Asn18His,ENST00000551712,;PAWR,missense_variant,p.Asn72His,ENST00000548426,;PAWR,downstream_gene_variant,,ENST00000552637,;AC073569.2,upstream_gene_variant,,ENST00000551995,;PAWR,non_coding_transcript_exon_variant,,ENST00000550006,;PAWR,non_coding_transcript_exon_variant,,ENST00000547016,;PAWR,upstream_gene_variant,,ENST00000547571,;,regulatory_region_variant,,ENSR00000054464,; G ENSG00000177425 ENST00000328827 Transcript missense_variant 587/9129 214/1023 72/340 N/H Aac/Cac rs1218976189 1 -1 PAWR HGNC HGNC:8614 protein_coding YES CCDS31863.1 ENSP00000328088 Q96IZ0 UPI0000070738 NM_002583.2,NM_001354732.1 tolerated(0.05) benign(0.007) 2/7 PDB-ENSP_mappings:2jk9.B,hmmpanther:PTHR15093,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTG . . 79690031 POLR1D . GRCh38 chr13 27621985 27621985 + Translation_Start_Site SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.2T>G p.Met1? p.M1? ENST00000302979 1/2 78 69 7 42 41 1 POLR1D,start_lost,p.Met1?,ENST00000636817,;POLR1D,start_lost,p.Met1?,ENST00000399697,NM_152705.2;POLR1D,start_lost,p.Met1?,ENST00000630983,;POLR1D,start_lost,p.Met1?,ENST00000645412,;POLR1D,start_lost,p.Met1?,ENST00000489647,;POLR1D,start_lost,p.Met1?,ENST00000302979,;POLR1D,start_lost,p.Met1?,ENST00000647448,NM_015972.3;POLR1D,5_prime_UTR_variant,,ENST00000637071,;POLR1D,5_prime_UTR_variant,,ENST00000399696,;POLR1D,intron_variant,,ENST00000621089,NM_001206559.1;POLR1D,intron_variant,,ENST00000627604,;POLR1D,intron_variant,,ENST00000637180,;LNX2,upstream_gene_variant,,ENST00000316334,NM_153371.3;POLR1D,non_coding_transcript_exon_variant,,ENST00000636226,;POLR1D,intron_variant,,ENST00000637389,;POLR1D,downstream_gene_variant,,ENST00000626064,;POLR1D,downstream_gene_variant,,ENST00000626929,;POLR1D,upstream_gene_variant,,ENST00000636618,;POLR1D,start_lost,p.Met1?,ENST00000465887,;,regulatory_region_variant,,ENSR00000060361,; G ENSG00000186184 ENST00000302979 Transcript start_lost 564/1166 2/402 1/133 M/R aTg/aGg 1 1 POLR1D HGNC HGNC:20422 protein_coding YES CCDS9325.1 ENSP00000302478 P0DPB6 UPI00001345BE deleterious_low_confidence(0) benign(0.018) 1/2 HIGH 1 SNV 1 1 PASS ATG . . 27621985 BAZ1A . GRCh38 chr14 34874665 34874665 + Splice_Region SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.-58-3T>G ENST00000360310 83 68 9 36 36 0 BAZ1A,splice_region_variant,,ENST00000358716,NM_182648.1;BAZ1A,splice_region_variant,,ENST00000360310,NM_013448.2;BAZ1A,5_prime_UTR_variant,,ENST00000382422,;AL121603.2,non_coding_transcript_exon_variant,,ENST00000557373,;,regulatory_region_variant,,ENSR00000067609,; C ENSG00000198604 ENST00000360310 Transcript splice_region_variant,intron_variant 1 -1 BAZ1A HGNC HGNC:960 protein_coding YES CCDS9651.1 ENSP00000353458 Q9NRL2 UPI00001584D3 NM_013448.2 1/26 LOW 1 SNV 1 1 PASS TAT . . 34874665 CGRRF1 . GRCh38 chr14 54530196 54530196 + Missense_Mutation SNP A A G rs199977377 7316-2181 BS_ZZHCTPFR A A c.392A>G p.Tyr131Cys p.Y131C ENST00000216420 3/6 78 69 8 42 42 0 CGRRF1,missense_variant,p.Tyr131Cys,ENST00000216420,NM_006568.2;CGRRF1,missense_variant,p.Tyr163Cys,ENST00000557317,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000557512,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000557184,;CGRRF1,3_prime_UTR_variant,,ENST00000557755,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000556216,;CGRRF1,intron_variant,,ENST00000554791,;,regulatory_region_variant,,ENSR00000068705,; G ENSG00000100532 ENST00000216420 Transcript missense_variant 524/2057 392/999 131/332 Y/C tAt/tGt rs199977377,COSM956303 1 1 CGRRF1 HGNC HGNC:15528 protein_coding YES CCDS9719.1 ENSP00000216420 Q99675 UPI00000712D0 NM_006568.2 tolerated(0.17) possibly_damaging(0.887) 3/6 hmmpanther:PTHR15379 0,1 MODERATE 1 SNV 1 0,1 PASS TAT . . 3.28e-05 0.0001218 1.801e-05 0.0001855 3.299e-05 54530196 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 84 54 12 29 29 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 CDAN1 . GRCh38 chr15 42737092 42737092 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.11T>G p.Val4Gly p.V4G ENST00000356231 1/28 83 67 8 39 39 0 CDAN1,missense_variant,p.Val4Gly,ENST00000356231,NM_138477.2;TTBK2,downstream_gene_variant,,ENST00000267890,NM_173500.3;CDAN1,upstream_gene_variant,,ENST00000563260,;AC090510.1,upstream_gene_variant,,ENST00000500850,;AC090510.1,upstream_gene_variant,,ENST00000567456,;CDAN1,missense_variant,p.Val4Gly,ENST00000643434,;,regulatory_region_variant,,ENSR00000075790,; C ENSG00000140326 ENST00000356231 Transcript missense_variant 37/4657 11/3684 4/1227 V/G gTt/gGt 1 -1 CDAN1 HGNC HGNC:1713 protein_coding YES CCDS32209.1 ENSP00000348564 Q8IWY9 UPI0000229BCB NM_138477.2 deleterious(0) possibly_damaging(0.899) 1/28 hmmpanther:PTHR28678 MODERATE 1 SNV 1 1 PASS AAC . . 42737092 TMC3 . GRCh38 chr15 81345017 81345018 + Splice_Region DEL GA GA - rs147678536 7316-2181 BS_ZZHCTPFR GA GA c.1273-7_1273-6del ENST00000359440 62 49 6 31 28 0 TMC3,splice_region_variant,,ENST00000359440,NM_001080532.1;TMC3,splice_region_variant,,ENST00000558726,;TMC3-AS1,intron_variant,,ENST00000559781,;TMC3-AS1,intron_variant,,ENST00000560851,;TMC3-AS1,downstream_gene_variant,,ENST00000559277,;TMC3-AS1,downstream_gene_variant,,ENST00000560973,;TMC3,splice_region_variant,,ENST00000559982,; - ENSG00000188869 ENST00000359440 Transcript splice_region_variant,intron_variant rs147678536,TMP_ESP_15_81637358_81637361,COSM4773599 1 -1 TMC3 HGNC HGNC:22995 protein_coding YES CCDS45324.1 ENSP00000352413 Q7Z5M5 UPI00006C154A NM_001080532.1 12/21 0.1277 0.1432 0,0,1 LOW 1 deletion 1 0,0,1 PASS GGGAG . . 0.06037 0.03918 0.04794 0.05798 0.0466 0.06324 0.06582 0.06212 0.0701 81345016 CHD2 . GRCh38 chr15 92981389 92981389 + Missense_Mutation SNP C C T rs758134774 7316-2181 BS_ZZHCTPFR C C c.2998C>T p.Arg1000Trp p.R1000W ENST00000394196 24/39 60 52 8 34 34 0 CHD2,missense_variant,p.Arg1000Trp,ENST00000394196,NM_001271.3;CHD2,missense_variant,p.Arg1000Trp,ENST00000626874,;CHD2,downstream_gene_variant,,ENST00000625463,;CHD2,non_coding_transcript_exon_variant,,ENST00000635856,;CHD2,non_coding_transcript_exon_variant,,ENST00000636306,;CHD2,downstream_gene_variant,,ENST00000628118,;CHD2,missense_variant,p.Arg791Trp,ENST00000636881,;CHD2,non_coding_transcript_exon_variant,,ENST00000637572,;CHD2,upstream_gene_variant,,ENST00000637789,;,regulatory_region_variant,,ENSR00000081336,; T ENSG00000173575 ENST00000394196 Transcript missense_variant 3574/9363 2998/5487 1000/1828 R/W Cgg/Tgg rs758134774,COSM1493540,COSM1493539 1 1 CHD2 HGNC HGNC:1917 protein_coding YES CCDS10374.2 ENSP00000377747 O14647 UPI0000E8A85C NM_001271.3 deleterious(0) probably_damaging(0.957) 24/39 hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799 likely_benign 0,1,1 MODERATE 1 SNV 5 1,1,1 1 PASS GCG . . 92981389 MEIOB . GRCh38 chr16 1839290 1839290 + Missense_Mutation SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.1183A>C p.Thr395Pro p.T395P ENST00000325962 11/13 73 62 9 32 32 0 MEIOB,missense_variant,p.Thr188Pro,ENST00000470044,;FAHD1,missense_variant,p.Val222Gly,ENST00000382668,NM_001142398.1;MEIOB,missense_variant,p.Thr395Pro,ENST00000397344,NM_152764.2;MEIOB,missense_variant,p.Thr395Pro,ENST00000325962,NM_001163560.2;FAHD1,3_prime_UTR_variant,,ENST00000382666,NM_001018104.2;FAHD1,downstream_gene_variant,,ENST00000615972,;AL031722.1,downstream_gene_variant,,ENST00000570247,;MEIOB,non_coding_transcript_exon_variant,,ENST00000490154,; G ENSG00000162039 ENST00000325962 Transcript missense_variant 1193/1694 1183/1416 395/471 T/P Aca/Cca 1 -1 MEIOB HGNC HGNC:28569 protein_coding YES CCDS53983.1 ENSP00000314484 Q8N635 UPI000198C771 NM_001163560.2 tolerated(0.2) benign(0.017) 11/13 hmmpanther:PTHR21166,hmmpanther:PTHR21166:SF2,Gene3D:2.40.50.140,Superfamily_domains:SSF50249 MODERATE SNV 5 1 PASS GTG . . 1839290 CASKIN1 . GRCh38 chr16 2196431 2196431 + Translation_Start_Site SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.2T>G p.Met1? p.M1? ENST00000343516 1/20 35 27 8 41 41 0 CASKIN1,start_lost,p.Met1?,ENST00000343516,NM_020764.3;,regulatory_region_variant,,ENSR00000082453,; C ENSG00000167971 ENST00000343516 Transcript start_lost 95/5759 2/4296 1/1431 M/R aTg/aGg 1 -1 CASKIN1 HGNC HGNC:20879 protein_coding YES CCDS42103.1 ENSP00000345436 Q8WXD9 UPI0000073A3B NM_020764.3 deleterious(0) possibly_damaging(0.841) 1/20 Gene3D:1.25.40.20 HIGH 1 SNV 1 PASS CAT . . 2196431 RRN3 . GRCh38 chr16 15084642 15084642 + Missense_Mutation SNP G G A rs76732059 7316-2181 BS_ZZHCTPFR G G c.596C>T p.Ser199Leu p.S199L ENST00000198767 7/18 82 71 10 42 40 0 RRN3,missense_variant,p.Ser199Leu,ENST00000198767,NM_018427.4;RRN3,missense_variant,p.Ser169Leu,ENST00000429751,NM_001301064.1;RRN3,missense_variant,p.Ser199Leu,ENST00000563559,;RRN3,missense_variant,p.Ser166Leu,ENST00000327307,;RRN3,missense_variant,p.Ser199Leu,ENST00000564131,;PDXDC1,intron_variant,,ENST00000535621,NM_001324021.1,NM_001324020.1,NM_001285449.1;RRN3,upstream_gene_variant,,ENST00000561685,; A ENSG00000085721 ENST00000198767 Transcript missense_variant,splice_region_variant 680/3762 596/1956 199/651 S/L tCg/tTg rs76732059,COSM3764542 1 -1 RRN3 HGNC HGNC:30346 protein_coding YES CCDS10559.1 ENSP00000198767 Q9NYV6 UPI000006E1BF NM_018427.4 tolerated(0.76) benign(0.099) 7/18 hmmpanther:PTHR12790,Pfam_domain:PF05327,Gene3D:1.25.10.10 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 0.2365 0.4154 0.2115 0.1931 0.2012 0.1897 0.2222 0.2091 0.3093 15084642 CENPN . GRCh38 chr16 81028296 81028296 + Splice_Region SNP G G A rs777202226 7316-2181 BS_ZZHCTPFR G G c.936G>A p.Ala312= p.A312= ENST00000393335 10/11 72 65 6 38 38 0 CENPN,splice_region_variant,p.Ala312=,ENST00000305850,NM_001100624.2;CENPN,splice_region_variant,p.Ala292=,ENST00000439957,NM_001270473.1;CENPN,splice_region_variant,p.Ala312=,ENST00000393335,NM_001100625.2;CENPN,splice_region_variant,p.Ala278=,ENST00000428963,NM_001270474.1;AC092718.8,intron_variant,,ENST00000638192,;AC092718.8,intron_variant,,ENST00000640345,;AC092718.2,intron_variant,,ENST00000561808,;AC092718.2,intron_variant,,ENST00000566390,;AC092718.2,upstream_gene_variant,,ENST00000562315,;AC092718.4,upstream_gene_variant,,ENST00000566639,; A ENSG00000166451 ENST00000393335 Transcript splice_region_variant,synonymous_variant 1010/1556 936/1062 312/353 A gcG/gcA rs777202226,COSM6258614,COSM6258613,COSM6258612 1 1 CENPN HGNC HGNC:30873 protein_coding YES CCDS42199.1 ENSP00000377007 Q96H22 UPI000059D3C7 NM_001100625.2 10/11 hmmpanther:PTHR12309,hmmpanther:PTHR12309:SF12,Pfam_domain:PF05238 0,1,1,1 LOW 1 SNV 2 0,1,1,1 PASS CGG . . 8.129e-06 2.98e-05 5.798e-05 81028296 KRT33B . GRCh38 chr17 41369506 41369506 + Missense_Mutation SNP G G A rs199744961 7316-2181 BS_ZZHCTPFR G G c.245C>T p.Ala82Val p.A82V ENST00000251646 1/7 75 62 13 45 44 0 KRT33B,missense_variant,p.Ala82Val,ENST00000251646,NM_002279.4; A ENSG00000131738 ENST00000251646 Transcript missense_variant 295/1607 245/1215 82/404 A/V gCg/gTg rs199744961,COSM5470670 1 -1 KRT33B HGNC HGNC:6451 protein_coding YES CCDS11389.1 ENSP00000251646 Q14525 UPI000012DAFE NM_002279.4 deleterious(0.04) benign(0.2) 1/7 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF99,Pfam_domain:PF00038,Gene3D:1.20.5.340,SMART_domains:SM01391,Superfamily_domains:SSF64593 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.0002721 0.005686 0.0002319 2.685e-05 0.0007294 41369506 SMURF2 . GRCh38 chr17 64661855 64661855 + Missense_Mutation SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.26A>C p.Asn9Thr p.N9T ENST00000262435 1/19 56 39 11 46 45 0 SMURF2,missense_variant,p.Asn9Thr,ENST00000262435,NM_022739.3;SMURF2,missense_variant,p.Asn9Thr,ENST00000585301,;SMURF2,upstream_gene_variant,,ENST00000578200,;SMURF2,missense_variant,p.Asn9Thr,ENST00000582081,;SMURF2,missense_variant,p.Asn9Thr,ENST00000578386,;,regulatory_region_variant,,ENSR00000096996,; G ENSG00000108854 ENST00000262435 Transcript missense_variant 214/2918 26/2247 9/748 N/T aAc/aCc 1 -1 SMURF2 HGNC HGNC:16809 protein_coding YES CCDS32707.1 ENSP00000262435 Q9HAU4 UPI00001361C5 NM_022739.3 tolerated(0.09) benign(0) 1/19 hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF300,PIRSF_domain:PIRSF001569 MODERATE 1 SNV 1 PASS GTT . . 64661855 PRPSAP1 . GRCh38 chr17 76353630 76353630 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.74T>G p.Val25Gly p.V25G ENST00000446526 1/10 82 72 8 42 39 1 PRPSAP1,missense_variant,p.Val25Gly,ENST00000446526,NM_002766.2;PRPSAP1,intron_variant,,ENST00000324684,;PRPSAP1,intron_variant,,ENST00000423915,;PRPSAP1,intron_variant,,ENST00000435555,;PRPSAP1,intron_variant,,ENST00000442767,;PRPSAP1,upstream_gene_variant,,ENST00000436498,;PRPSAP1,upstream_gene_variant,,ENST00000494662,;,regulatory_region_variant,,ENSR00000098550,; C ENSG00000161542 ENST00000446526 Transcript missense_variant 520/3660 74/1158 25/385 V/G gTt/gGt 1 -1 PRPSAP1 HGNC HGNC:9466 protein_coding YES CCDS11743.2 ENSP00000414624 Q14558 UPI0000D4D88C NM_002766.2 tolerated_low_confidence(0.07) benign(0.003) 1/10 Low_complexity_(Seg):seg,hmmpanther:PTHR10210:SF28,hmmpanther:PTHR10210 MODERATE 1 SNV 1 PASS AAC . . 76353630 PYCR1 . GRCh38 chr17 81937213 81937213 + Translation_Start_Site SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.1A>C p.Met1? p.M1? ENST00000402252 1/8 102 84 18 39 38 1 PYCR1,start_lost,p.Met1?,ENST00000402252,NM_001282281.1;PYCR1,5_prime_UTR_variant,,ENST00000337943,NM_153824.2;PYCR1,5_prime_UTR_variant,,ENST00000585244,;PYCR1,5_prime_UTR_variant,,ENST00000583564,;PYCR1,intron_variant,,ENST00000403172,NM_001282279.1;PYCR1,intron_variant,,ENST00000405481,;PYCR1,intron_variant,,ENST00000577624,;PYCR1,intron_variant,,ENST00000579366,;PYCR1,intron_variant,,ENST00000579698,;PYCR1,intron_variant,,ENST00000581271,;PYCR1,intron_variant,,ENST00000582198,;PYCR1,intron_variant,,ENST00000585215,;PYCR1,intron_variant,,ENST00000619204,NM_001282280.1;PYCR1,intron_variant,,ENST00000629768,NM_001330523.1;PYCR1,upstream_gene_variant,,ENST00000329875,NM_006907.3;MYADML2,downstream_gene_variant,,ENST00000409745,NM_001145113.2;PYCR1,upstream_gene_variant,,ENST00000577756,;PYCR1,upstream_gene_variant,,ENST00000584848,;AC145207.1,upstream_gene_variant,,ENST00000415556,;AC145207.4,downstream_gene_variant,,ENST00000583521,;,regulatory_region_variant,,ENSR00000284724,; G ENSG00000183010 ENST00000402252 Transcript start_lost 27/1346 1/1041 1/346 M/L Atg/Ctg 1 -1 PYCR1 HGNC HGNC:9721 protein_coding YES CCDS62366.1 ENSP00000384949 P32322 UPI00017A78A7 NM_001282281.1 benign(0) 1/8 mobidb-lite HIGH SNV 2 1 PASS ATT . . 81937213 TMEM200C . GRCh38 chr18 5891099 5891099 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.965T>G p.Val322Gly p.V322G ENST00000581347 3/3 63 56 5 42 42 0 TMEM200C,missense_variant,p.Val322Gly,ENST00000581347,;TMEM200C,missense_variant,p.Val322Gly,ENST00000383490,NM_001080209.1;AP005433.1,intron_variant,,ENST00000577694,;AP005433.1,downstream_gene_variant,,ENST00000580845,;AP005433.1,downstream_gene_variant,,ENST00000582939,; C ENSG00000206432 ENST00000581347 Transcript missense_variant 1611/10638 965/1866 322/621 V/G gTg/gGg 1 -1 TMEM200C HGNC HGNC:37208 protein_coding YES CCDS45825.1 ENSP00000463375 A6NKL6 UPI000020198E deleterious(0) possibly_damaging(0.514) 3/3 hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF2 MODERATE SNV 5 PASS CAC . . 5891099 GATA6 . GRCh38 chr18 22171848 22171848 + Missense_Mutation SNP A A C 7316-2181 BS_ZZHCTPFR A A c.704A>C p.Tyr235Ser p.Y235S ENST00000269216 2/7 63 51 10 48 46 1 GATA6,missense_variant,p.Tyr235Ser,ENST00000269216,NM_005257.5;GATA6,missense_variant,p.Tyr235Ser,ENST00000581694,;GATA6-AS1,upstream_gene_variant,,ENST00000579431,;GATA6-AS1,upstream_gene_variant,,ENST00000583490,;GATA6-AS1,upstream_gene_variant,,ENST00000584201,;GATA6-AS1,upstream_gene_variant,,ENST00000584373,;AC091588.1,downstream_gene_variant,,ENST00000578504,;,regulatory_region_variant,,ENSR00000285324,; C ENSG00000141448 ENST00000269216 Transcript missense_variant 981/3770 704/1788 235/595 Y/S tAc/tCc CM128433 1 1 GATA6 HGNC HGNC:4174 protein_coding YES CCDS11872.1 ENSP00000269216 Q92908 UPI0000201AC8 NM_005257.5 tolerated(0.1) benign(0.096) 2/7 Pfam_domain:PF05349,PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF23,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 1 PASS TAC . . 22171848 FHOD3 . GRCh38 chr18 36681496 36681497 + Frame_Shift_Del DEL AG AG - rs144071785 7316-2181 BS_ZZHCTPFR AG AG c.1906_1907del p.Arg636AlafsTer48 p.R636Afs*48 ENST00000590592 15/29 65 56 5 44 40 0 FHOD3,frameshift_variant,p.Arg461AlafsTer48,ENST00000257209,NM_025135.4;FHOD3,frameshift_variant,p.Arg636AlafsTer48,ENST00000590592,NM_001281740.2;FHOD3,frameshift_variant,p.Arg461AlafsTer31,ENST00000359247,NM_001281739.2;FHOD3,frameshift_variant,p.Arg222AlafsTer48,ENST00000592930,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,; - ENSG00000134775 ENST00000590592 Transcript frameshift_variant 1896-1897/4869 1896-1897/4869 632-633/1622 AE/AX gcAGag/gcag rs144071785,COSM1388607 1 1 FHOD3 HGNC HGNC:26178 protein_coding YES CCDS62418.1 ENSP00000466937 Q2V2M9 UPI0002840E0A NM_001281740.2 15/29 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213 0,1 HIGH 1 deletion 1 10 0,1 PASS GCAGA . . 0.0001523 0.0002787 0.0001134 6.743e-05 9.377e-05 0.0001627 0.0006255 7.612e-05 36681495 ZNF729 . GRCh38 chr19 22315458 22315458 + Nonsense_Mutation SNP A A T 7316-2181 BS_ZZHCTPFR A A c.2041A>T p.Lys681Ter p.K681* ENST00000601693 4/4 76 61 8 51 50 0 ZNF729,stop_gained,p.Lys681Ter,ENST00000601693,NM_001242680.1; T ENSG00000196350 ENST00000601693 Transcript stop_gained 2159/3877 2041/3759 681/1252 K/* Aag/Tag COSM6236005 1 1 ZNF729 HGNC HGNC:32464 protein_coding YES CCDS59368.1 ENSP00000469582 A6NN14 UPI000042600C NM_001242680.1 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384:SF125,Superfamily_domains:SSF57667 1 HIGH 1 SNV 2 1 PASS AAA . . 22315458 LRFN3 . GRCh38 chr19 35939441 35939441 + Missense_Mutation SNP T T G novel 7316-2181 BS_ZZHCTPFR T T c.16T>G p.Leu6Val p.L6V ENST00000588831 3/4 97 81 12 54 54 0 LRFN3,missense_variant,p.Leu6Val,ENST00000588831,;LRFN3,missense_variant,p.Leu6Val,ENST00000246529,NM_024509.1;LRFN3,downstream_gene_variant,,ENST00000585876,;LRFN3,downstream_gene_variant,,ENST00000587257,; G ENSG00000126243 ENST00000588831 Transcript missense_variant 1070/3689 16/1887 6/628 L/V Ttg/Gtg 1 1 LRFN3 HGNC HGNC:28370 protein_coding YES CCDS12483.1 ENSP00000466989 Q9BTN0 UPI0000070E5A tolerated(0.35) benign(0.026) 3/4 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF1 MODERATE 1 SNV 5 PASS GTT . . 35939441 CCDC8 . GRCh38 chr19 46411487 46411487 + Missense_Mutation SNP G G C rs1163735259 7316-2181 BS_ZZHCTPFR G G c.1324C>G p.His442Asp p.H442D ENST00000307522 1/1 87 77 10 45 44 0 CCDC8,missense_variant,p.His442Asp,ENST00000307522,NM_032040.4; C ENSG00000169515 ENST00000307522 Transcript missense_variant 2098/3213 1324/1617 442/538 H/D Cat/Gat rs1163735259,COSM6205530 1 -1 CCDC8 HGNC HGNC:25367 protein_coding YES CCDS12685.1 ENSP00000303158 Q9H0W5 UPI00000730F2 NM_032040.4 tolerated_low_confidence(0.34) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR23095:SF2,hmmpanther:PTHR23095 0,1 MODERATE 1 SNV 0,1 1 PASS TGT . . 46411487 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 49 33 11 39 38 1 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 ZNF417 . GRCh38 chr19 57909292 57909292 + Missense_Mutation SNP T T C rs141681057 7316-2181 BS_ZZHCTPFR T T c.986A>G p.Tyr329Cys p.Y329C ENST00000312026 3/3 61 52 8 39 38 0 ZNF417,missense_variant,p.Tyr329Cys,ENST00000312026,NM_152475.2;ZNF417,missense_variant,p.Tyr328Cys,ENST00000595559,NM_001297734.1;ZNF417,intron_variant,,ENST00000594396,;ZNF417,downstream_gene_variant,,ENST00000597515,;ZNF417,downstream_gene_variant,,ENST00000598526,;ZNF417,downstream_gene_variant,,ENST00000598629,;ZNF417,downstream_gene_variant,,ENST00000599251,;AC010326.2,intron_variant,,ENST00000602124,; C ENSG00000173480 ENST00000312026 Transcript missense_variant 1151/3597 986/1728 329/575 Y/C tAt/tGt rs141681057,COSM4186105 1 -1 ZNF417 HGNC HGNC:20646 protein_coding YES CCDS12965.1 ENSP00000311319 Q8TAU3 UPI000013F249 NM_152475.2 tolerated(1) benign(0) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF677,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0016 0.0029 0.003 0.002 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS ATA . . 0.0005788 0.0003271 0.0002987 0.0001016 0.001395 0.0001381 0.0006633 0.0008125 57909292 MATN4 . GRCh38 chr20 45304600 45304600 + Missense_Mutation SNP A A C rs1475994683 7316-2181 BS_ZZHCTPFR A A c.271T>G p.Phe91Val p.F91V ENST00000372756 2/9 90 83 7 43 42 0 MATN4,missense_variant,p.Phe91Val,ENST00000372754,;MATN4,missense_variant,p.Phe91Val,ENST00000360607,NM_030590.3;MATN4,missense_variant,p.Phe91Val,ENST00000372756,NM_003833.4;MATN4,missense_variant,p.Phe91Val,ENST00000537548,;MATN4,missense_variant,p.Phe91Val,ENST00000353917,NM_030592.3;RBPJL,upstream_gene_variant,,ENST00000343694,NM_014276.3;RBPJL,upstream_gene_variant,,ENST00000372741,NM_001281448.1;RBPJL,upstream_gene_variant,,ENST00000372743,NM_001281449.1; C ENSG00000124159 ENST00000372756 Transcript missense_variant 280/2077 271/1746 91/581 F/V Ttc/Gtc rs1475994683 1 -1 MATN4 HGNC HGNC:6910 protein_coding YES CCDS13348.1 ENSP00000361842 O95460 UPI000016054E NM_003833.4 possibly_damaging(0.805) 2/9 cd01475,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300,PROSITE_profiles:PS50234,hmmpanther:PTHR45365 MODERATE 1 SNV 1 PASS AAC . . 4.117e-06 5.85e-05 45304600 SMARCB1 . GRCh38 chr22 23834167 23834167 + Frame_Shift_Del DEL C - - 7316-2181 BS_ZZHCTPFR C C c.1175del p.Pro392ArgfsTer100 p.P392Rfs*100 ENST00000344921 9/9 46 11 33 37 36 0 SMARCB1,frameshift_variant,p.Pro383ArgfsTer100,ENST00000644036,NM_003073.4;SMARCB1,frameshift_variant,p.Pro374ArgfsTer100,ENST00000407422,NM_001007468.2;SMARCB1,frameshift_variant,p.Pro392ArgfsTer100,ENST00000344921,NM_001317946.1;SMARCB1,frameshift_variant,p.Pro337ArgfsTer100,ENST00000263121,;DERL3,downstream_gene_variant,,ENST00000318109,NM_001002862.2;DERL3,downstream_gene_variant,,ENST00000404056,;DERL3,downstream_gene_variant,,ENST00000406855,NM_001135751.1;DERL3,downstream_gene_variant,,ENST00000476077,NM_198440.3;DERL3,downstream_gene_variant,,ENST00000464023,;DERL3,downstream_gene_variant,,ENST00000464034,;DERL3,downstream_gene_variant,,ENST00000488272,;DERL3,downstream_gene_variant,,ENST00000493596,;SMARCB1,3_prime_UTR_variant,,ENST00000644462,;SMARCB1,3_prime_UTR_variant,,ENST00000647057,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000646723,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000645799,;DERL3,downstream_gene_variant,,ENST00000290730,;DERL3,downstream_gene_variant,,ENST00000464110,;SMARCB1,downstream_gene_variant,,ENST00000477836,; - ENSG00000099956 ENST00000344921 Transcript frameshift_variant 1379/1717 1172/1185 391/394 A/X gCc/gc COSM6955398,COSM6438246,COSM29495 1 1 SMARCB1 HGNC HGNC:11103 protein_coding YES CCDS82699.1 ENSP00000340883 G5E975 UPI000013D3AE NM_001317946.1 9/9 PIRSF_domain:PIRSF038126 1,1,1 HIGH deletion 2 3 1,1,1 1 PASS GGCC . . 23834166 PLCXD1 . GRCh38 chrX 290750 290750 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.367A>C p.Met123Leu p.M123L ENST00000381657 4/7 77 64 9 47 47 0 PLCXD1,missense_variant,p.Met123Leu,ENST00000381657,NM_018390.3;PLCXD1,missense_variant,p.Met123Leu,ENST00000399012,;PLCXD1,missense_variant,p.Met123Leu,ENST00000381663,;PLCXD1,missense_variant,p.Met123Leu,ENST00000448477,;PLCXD1,missense_variant,p.Met123Leu,ENST00000430923,;PLCXD1,missense_variant,p.Met123Leu,ENST00000447472,;PLCXD1,missense_variant,p.Met123Leu,ENST00000415337,;PLCXD1,downstream_gene_variant,,ENST00000429181,;PLCXD1,downstream_gene_variant,,ENST00000443019,;PLCXD1,downstream_gene_variant,,ENST00000445062,;PLCXD1,non_coding_transcript_exon_variant,,ENST00000484611,; C ENSG00000182378 ENST00000381657 Transcript missense_variant 881/5507 367/972 123/323 M/L Atg/Ctg 1 1 PLCXD1 HGNC HGNC:23148 protein_coding YES CCDS14103.1 ENSP00000371073 Q9NUJ7 UPI0000048190 NM_018390.3 tolerated(0.68) benign(0.007) 4/7 PROSITE_profiles:PS50007,cd08616,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF24,Gene3D:3.20.20.190,Pfam_domain:PF00388,SMART_domains:SM00148,Superfamily_domains:SSF51695 MODERATE 1 SNV 5 PASS TAT . . 290750 SLC35A2 . GRCh38 chrX 48904767 48904767 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.1226T>G p.Ile409Ser p.I409S ENST00000452555 5/5 45 36 6 22 20 0 SLC35A2,missense_variant,p.Ile381Ser,ENST00000376521,NM_001042498.2;SLC35A2,missense_variant,p.His184Gln,ENST00000445167,NM_001032289.2;SLC35A2,missense_variant,p.Ile381Ser,ENST00000247138,NM_005660.2;SLC35A2,missense_variant,p.Ile394Ser,ENST00000616181,NM_001282650.1;SLC35A2,missense_variant,p.Ile409Ser,ENST00000452555,NM_001282651.1;SLC35A2,missense_variant,p.Ile320Ser,ENST00000635589,NM_001282649.1;SLC35A2,missense_variant,p.His160Gln,ENST00000376515,NM_001282648.1;SLC35A2,missense_variant,p.His184Gln,ENST00000376529,NM_001282647.1;SLC35A2,3_prime_UTR_variant,,ENST00000413561,;SLC35A2,intron_variant,,ENST00000635460,;PQBP1,downstream_gene_variant,,ENST00000218224,NM_001167992.1,NM_005710.2;PQBP1,downstream_gene_variant,,ENST00000247140,;SLC35A2,downstream_gene_variant,,ENST00000376512,;PQBP1,downstream_gene_variant,,ENST00000376563,NM_001032381.1,NM_001167989.1,NM_001032383.1,NM_001032382.1;PQBP1,downstream_gene_variant,,ENST00000376566,NM_144495.2;PQBP1,downstream_gene_variant,,ENST00000396763,NM_001032384.1;PQBP1,downstream_gene_variant,,ENST00000443648,;SLC35A2,downstream_gene_variant,,ENST00000446885,;PQBP1,downstream_gene_variant,,ENST00000447146,NM_001167990.1;PQBP1,downstream_gene_variant,,ENST00000456306,;SLC35A2,downstream_gene_variant,,ENST00000634461,;SLC35A2,downstream_gene_variant,,ENST00000634665,;SLC35A2,downstream_gene_variant,,ENST00000635015,;SLC35A2,downstream_gene_variant,,ENST00000635238,;PQBP1,downstream_gene_variant,,ENST00000463529,;PQBP1,downstream_gene_variant,,ENST00000465859,;PQBP1,downstream_gene_variant,,ENST00000470059,;PQBP1,downstream_gene_variant,,ENST00000470062,;PQBP1,downstream_gene_variant,,ENST00000472742,;PQBP1,downstream_gene_variant,,ENST00000473764,;PQBP1,downstream_gene_variant,,ENST00000474671,;PQBP1,downstream_gene_variant,,ENST00000477997,;PQBP1,downstream_gene_variant,,ENST00000486150,;SLC35A2,missense_variant,p.Ile381Ser,ENST00000635285,;SLC35A2,3_prime_UTR_variant,,ENST00000635628,; C ENSG00000102100 ENST00000452555 Transcript missense_variant 1236/1563 1226/1266 409/421 I/S aTc/aGc 1 -1 SLC35A2 HGNC HGNC:11022 protein_coding YES CCDS65254.1 ENSP00000416002 P78381 UPI0000E25D09 NM_001282651.1 tolerated_low_confidence(0.85) benign(0) 5/5 MODERATE SNV 2 1 PASS GAT . . 48904767 MAGIX . GRCh38 chrX 49166321 49166321 + Missense_Mutation SNP A A C novel 7316-2181 BS_ZZHCTPFR A A c.927A>C p.Glu309Asp p.E309D ENST00000595224 6/6 63 52 10 18 18 0 MAGIX,missense_variant,p.Glu250Asp,ENST00000616266,;MAGIX,missense_variant,p.Glu237Asp,ENST00000615915,;MAGIX,missense_variant,p.Glu309Asp,ENST00000595224,NM_024859.3;MAGIX,missense_variant,p.Glu233Asp,ENST00000615626,NM_001099681.2;MAGIX,missense_variant,p.Glu228Asp,ENST00000614074,NM_001099682.2;MAGIX,downstream_gene_variant,,ENST00000454342,;MAGIX,downstream_gene_variant,,ENST00000612119,;AC231657.1,upstream_gene_variant,,ENST00000624313,;MAGIX,non_coding_transcript_exon_variant,,ENST00000616812,;MAGIX,downstream_gene_variant,,ENST00000614322,;,regulatory_region_variant,,ENSR00000340774,; C ENSG00000269313 ENST00000595224 Transcript missense_variant 927/1238 927/1005 309/334 E/D gaA/gaC 1 1 MAGIX HGNC HGNC:30006 protein_coding YES CCDS48106.1 ENSP00000471299 Q9H6Y5 UPI0002AB8035 NM_024859.3 tolerated(0.11) probably_damaging(0.986) 6/6 hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF5 MODERATE 1 SNV 5 PASS AAC . . 49166321 SI . GRCh38 chr3 165041079 165041079 + Missense_Mutation SNP A A T novel 7316-1781 BS_8ZTNXCZJ A A c.2020T>A p.Phe674Ile p.F674I ENST00000264382 18/48 43 24 19 42 41 0 SI,missense_variant,p.Phe674Ile,ENST00000264382,NM_001041.3; T ENSG00000090402 ENST00000264382 Transcript missense_variant 2083/6011 2020/5484 674/1827 F/I Ttt/Att 1 -1 SI HGNC HGNC:10856 protein_coding YES CCDS3196.1 ENSP00000264382 P14410 UPI000022C287 NM_001041.3 tolerated(0.32) benign(0.015) 18/48 Gene3D:3.20.20.80,PDB-ENSP_mappings:3lpo.A,PDB-ENSP_mappings:3lpo.B,PDB-ENSP_mappings:3lpo.C,PDB-ENSP_mappings:3lpo.D,PDB-ENSP_mappings:3lpp.A,PDB-ENSP_mappings:3lpp.B,PDB-ENSP_mappings:3lpp.C,PDB-ENSP_mappings:3lpp.D,Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,Superfamily_domains:SSF51445,cd06602 MODERATE 1 SNV 1 1 PASS AAT . . 165041079 SLIT3 . GRCh38 chr5 168696437 168696437 + Splice_Region SNP G G A 7316-1781 BS_8ZTNXCZJ G G c.2964-6C>T ENST00000332966 85 45 39 42 41 0 SLIT3,splice_region_variant,,ENST00000332966,NM_001271946.1;SLIT3,splice_region_variant,,ENST00000404867,;SLIT3,splice_region_variant,,ENST00000519560,NM_003062.3;SLIT3,upstream_gene_variant,,ENST00000518092,; A ENSG00000184347 ENST00000332966 Transcript splice_region_variant,intron_variant COSM6273751,COSM6273750 1 -1 SLIT3 HGNC HGNC:11087 protein_coding YES CCDS64311.1 ENSP00000332164 O75094 UPI0001E8F75D NM_001271946.1 27/35 1,1 LOW 1 SNV 1 1,1 PASS GGG . . 168696437 FAM120B . GRCh38 chr6 170318489 170318489 + Missense_Mutation SNP G G A rs748384723 7316-1781 BS_8ZTNXCZJ G G c.1168G>A p.Val390Met p.V390M ENST00000537664 2/11 83 59 13 39 34 0 FAM120B,missense_variant,p.Val367Met,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Val379Met,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Val390Met,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; A ENSG00000112584 ENST00000537664 Transcript missense_variant 1253/3212 1168/2802 390/933 V/M Gtg/Atg rs748384723 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(0.65) benign(0) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 MODERATE 1 SNV 2 PASS CGT . . 2.504e-05 0.0001268 9.064e-06 3.378e-05 170318489 ZAN . GRCh38 chr7 100751991 100751991 + Missense_Mutation SNP T T C rs561745860 7316-1781 BS_8ZTNXCZJ T T c.1886T>C p.Leu629Pro p.L629P ENST00000613979 14/48 62 44 13 32 30 1 ZAN,missense_variant,p.Leu629Pro,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Leu629Pro,ENST00000618565,;ZAN,missense_variant,p.Leu629Pro,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Leu629Pro,ENST00000546292,;ZAN,missense_variant,p.Leu629Pro,ENST00000542585,;ZAN,missense_variant,p.Leu629Pro,ENST00000538115,;ZAN,missense_variant,p.Leu629Pro,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,; C ENSG00000146839 ENST00000613979 Transcript missense_variant 2051/8669 1886/8439 629/2812 L/P cTc/cCc rs561745860,COSM3831309 1 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 A0A087WU49 UPI000441C79E NM_003386.2 tolerated(0.8) benign(0) 14/48 hmmpanther:PTHR11339:SF367,hmmpanther:PTHR11339,mobidb-lite 0.0018 0.0008 0.0029 0.004 0.002 0,1 MODERATE 1 SNV 1 0,1 PASS CTC . . 0.0003867 0.0002864 0.001005 0.0001062 0.001002 4.527e-05 0.0002354 0.0001999 0.0004188 100751991 PTPRN2 . GRCh38 chr7 157621357 157621357 + Splice_Region SNP C C T rs13308532 7316-1781 BS_8ZTNXCZJ C C c.2344+5G>A ENST00000389418 135 119 11 45 45 0 PTPRN2,splice_region_variant,,ENST00000389413,NM_130843.3;PTPRN2,splice_region_variant,,ENST00000389416,NM_130842.3;PTPRN2,splice_region_variant,,ENST00000389418,NM_002847.4,NM_001308268.1;PTPRN2,splice_region_variant,,ENST00000409483,NM_001308267.1;AC005481.1,downstream_gene_variant,,ENST00000409610,; T ENSG00000155093 ENST00000389418 Transcript splice_region_variant,intron_variant rs13308532 1 -1 PTPRN2 HGNC HGNC:9677 protein_coding YES CCDS5947.1 ENSP00000374069 Q92932 UPI000002E7C7 NM_002847.4,NM_001308268.1 15/22 LOW 1 SNV 1 PASS ACG . . 157621357 COL14A1 . GRCh38 chr8 120243981 120243981 + Missense_Mutation SNP G G A rs556732801 7316-1781 BS_8ZTNXCZJ G G c.2452G>A p.Val818Ile p.V818I ENST00000297848 20/48 62 56 6 49 48 0 COL14A1,missense_variant,p.Val818Ile,ENST00000297848,NM_021110.3;COL14A1,missense_variant,p.Val818Ile,ENST00000309791,;COL14A1,missense_variant,p.Val631Ile,ENST00000434620,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,; A ENSG00000187955 ENST00000297848 Transcript missense_variant 2722/6466 2452/5391 818/1796 V/I Gtc/Atc rs556732801,COSM3896463 1 1 COL14A1 HGNC HGNC:2191 protein_coding YES CCDS34938.1 ENSP00000297848 Q05707 UPI000046D377 NM_021110.3 tolerated(0.21) benign(0.328) 20/48 Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR44557,Superfamily_domains:SSF49265,cd00063 0.0002 0.001 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGT . . 0.0001139 3.586e-05 0.0007833 120243981 KIF24 . GRCh38 chr9 34257236 34257236 + Missense_Mutation SNP G G A rs1158199837 7316-1781 BS_8ZTNXCZJ G G c.2371C>T p.Arg791Cys p.R791C ENST00000402558 10/12 63 53 9 50 50 0 KIF24,missense_variant,p.Arg791Cys,ENST00000402558,NM_194313.2;KIF24,missense_variant,p.Arg657Cys,ENST00000379174,;UBAP1,downstream_gene_variant,,ENST00000297661,NM_001171203.2,NM_016525.4,NM_001171204.2;UBAP1,downstream_gene_variant,,ENST00000359544,;UBAP1,downstream_gene_variant,,ENST00000379186,; A ENSG00000186638 ENST00000402558 Transcript missense_variant 2396/6131 2371/4107 791/1368 R/C Cgc/Tgc rs1158199837 1 -1 KIF24 HGNC HGNC:19916 protein_coding YES CCDS6551.2 ENSP00000384433 Q5T7B8 UPI00004F9D23 NM_194313.2 tolerated(1) benign(0) 10/12 hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF410 MODERATE 1 SNV 5 PASS CGT . . 4.061e-06 2.978e-05 34257236 C9orf85 . GRCh38 chr9 71982781 71982781 + Missense_Mutation SNP G G A rs140727570 7316-1781 BS_8ZTNXCZJ G G c.448G>A p.Ala150Thr p.A150T ENST00000377031 4/4 73 62 8 31 31 0 C9orf85,missense_variant,p.Ala150Thr,ENST00000377031,;C9orf85,intron_variant,,ENST00000486911,; A ENSG00000155621 ENST00000377031 Transcript missense_variant 638/1107 448/540 150/179 A/T Gca/Aca rs140727570 1 1 C9orf85 HGNC HGNC:28784 protein_coding ENSP00000366230 Q96MD7 UPI00000721E2 tolerated_low_confidence(0.43) benign(0) 4/4 MODERATE 1 SNV 3 PASS CGC . . 0.0003644 0.0007728 0.001005 0.0004617 71982781 NUTM2F . GRCh38 chr9 94325541 94325541 + Missense_Mutation SNP G G C rs202099818 7316-1781 BS_8ZTNXCZJ G G c.410C>G p.Ser137Cys p.S137C ENST00000253262 2/7 53 43 10 22 22 0 NUTM2F,missense_variant,p.Ser137Cys,ENST00000253262,NM_017561.1;NUTM2F,missense_variant,p.Ser137Cys,ENST00000341207,; C ENSG00000130950 ENST00000253262 Transcript missense_variant 431/2561 410/2271 137/756 S/C tCt/tGt rs202099818,COSM4407271,COSM4407272 1 -1 NUTM2F HGNC HGNC:23450 protein_coding YES CCDS47994.1 ENSP00000253262 A1L443 UPI00001D771D NM_017561.1 deleterious(0.01) possibly_damaging(0.667) 2/7 Pfam_domain:PF12881,hmmpanther:PTHR22879,hmmpanther:PTHR22879:SF14 0.2015 0.1437 0.3516 0.3601 0.0497 0.1656 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGA . . 0.1403 0.1319 0.3841 0.06361 0.3788 0.04165 0.03756 0.1154 0.1261 94325541 MUC5AC . GRCh38 chr11 1186943 1186943 + Missense_Mutation SNP T T C rs1196410546 7316-1781 BS_8ZTNXCZJ T T c.8798T>C p.Ile2933Thr p.I2933T ENST00000621226 31/49 84 60 14 31 22 0 MUC5AC,missense_variant,p.Ile2933Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 8845/17448 8798/16965 2933/5654 I/T aTc/aCc rs1196410546 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated_low_confidence(0.85) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 1186943 SNX19 . GRCh38 chr11 130910374 130910374 + Splice_Region DEL C C - rs372369099 7316-1781 BS_8ZTNXCZJ C C c.1814-4del ENST00000265909 71 45 15 37 33 1 SNX19,splice_region_variant,,ENST00000265909,NM_014758.2;SNX19,splice_region_variant,,ENST00000528555,NM_001301089.1;SNX19,splice_region_variant,,ENST00000530356,;SNX19,splice_region_variant,,ENST00000533214,NM_001347921.1;SNX19,upstream_gene_variant,,ENST00000534726,;SNX19,splice_region_variant,,ENST00000533318,;SNX19,upstream_gene_variant,,ENST00000524460,;SNX19,upstream_gene_variant,,ENST00000526579,;SNX19,splice_region_variant,,ENST00000531608,;SNX19,upstream_gene_variant,,ENST00000527451,; - ENSG00000120451 ENST00000265909 Transcript splice_region_variant,intron_variant rs372369099 1 -1 SNX19 HGNC HGNC:21532 protein_coding YES CCDS31721.1 ENSP00000265909 Q92543 UPI000013D6A5 NM_014758.2 2/10 0.1430 0.1573 0.1254 0.1488 0.1083 0.1656 LOW 1 deletion 1 PASS TTCC . . 0.3148 0.3365 0.3446 0.3296 0.3495 0.2851 0.2974 0.3151 0.3273 130910373 CHD8 . GRCh38 chr14 21427862 21427862 + Splice_Region SNP T T C rs1275939341 7316-1781 BS_8ZTNXCZJ T T c.1601+7A>G ENST00000646647 91 70 17 39 36 1 CHD8,splice_region_variant,,ENST00000399982,NM_001170629.1;CHD8,splice_region_variant,,ENST00000430710,NM_020920.3;CHD8,splice_region_variant,,ENST00000557364,;CHD8,splice_region_variant,,ENST00000642518,;CHD8,splice_region_variant,,ENST00000643469,;CHD8,splice_region_variant,,ENST00000645140,;CHD8,splice_region_variant,,ENST00000645929,;CHD8,splice_region_variant,,ENST00000646063,;CHD8,splice_region_variant,,ENST00000646340,;CHD8,splice_region_variant,,ENST00000646647,;CHD8,downstream_gene_variant,,ENST00000553283,;CHD8,downstream_gene_variant,,ENST00000553622,;RN7SL650P,downstream_gene_variant,,ENST00000619902,;CHD8,downstream_gene_variant,,ENST00000556833,;CHD8,splice_region_variant,,ENST00000643048,;CHD8,splice_region_variant,,ENST00000645206,;CHD8,non_coding_transcript_exon_variant,,ENST00000553651,;CHD8,intron_variant,,ENST00000555962,; C ENSG00000100888 ENST00000646647 Transcript splice_region_variant,intron_variant rs1275939341 1 -1 CHD8 HGNC HGNC:20153 protein_coding YES CCDS53885.1 ENSP00000495240 UPI00002375B9 4/37 LOW 1 SNV 1 PASS GTA . . 21427862 ABR . GRCh38 chr17 1050577 1050577 + Missense_Mutation SNP G G A novel 7316-1781 BS_8ZTNXCZJ G G c.1619C>T p.Thr540Ile p.T540I ENST00000302538 15/23 90 66 24 49 49 0 ABR,missense_variant,p.Thr494Ile,ENST00000544583,NM_001159746.2,NM_001322840.1;ABR,missense_variant,p.Thr540Ile,ENST00000302538,NM_021962.4;ABR,missense_variant,p.Thr552Ile,ENST00000574437,NM_001322841.1;ABR,missense_variant,p.Thr503Ile,ENST00000291107,NM_001092.4;ABR,missense_variant,p.Thr322Ile,ENST00000536794,NM_001282149.1;ABR,missense_variant,p.Thr182Ile,ENST00000574544,;ABR,intron_variant,,ENST00000576964,;ABR,3_prime_UTR_variant,,ENST00000575770,;ABR,upstream_gene_variant,,ENST00000572152,;ABR,downstream_gene_variant,,ENST00000573895,;ABR,upstream_gene_variant,,ENST00000574257,;ABR,upstream_gene_variant,,ENST00000574875,; A ENSG00000159842 ENST00000302538 Transcript missense_variant 1766/5289 1619/2580 540/859 T/I aCc/aTc 1 -1 ABR HGNC HGNC:81 protein_coding YES CCDS10999.1 ENSP00000303909 Q12979 UPI00001AED3D NM_021962.4 deleterious(0) probably_damaging(0.981) 15/23 PROSITE_profiles:PS50004,cd08686,hmmpanther:PTHR23182,hmmpanther:PTHR23182:SF5,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562 MODERATE 1 SNV 1 PASS GGT . . 1050577 UTP18 . GRCh38 chr17 51260777 51260777 + Missense_Mutation SNP G G A novel 7316-1781 BS_8ZTNXCZJ G G c.193G>A p.Ala65Thr p.A65T ENST00000225298 1/14 81 48 31 28 28 0 UTP18,missense_variant,p.Ala65Thr,ENST00000225298,NM_016001.2;MBTD1,upstream_gene_variant,,ENST00000586178,NM_017643.2;MBTD1,upstream_gene_variant,,ENST00000593259,;MBTD1,upstream_gene_variant,,ENST00000405860,;MBTD1,upstream_gene_variant,,ENST00000591270,;,regulatory_region_variant,,ENSR00000095806,; A ENSG00000011260 ENST00000225298 Transcript missense_variant 250/1894 193/1671 65/556 A/T Gcg/Acg 1 1 UTP18 HGNC HGNC:24274 protein_coding YES CCDS42362.1 ENSP00000225298 Q9Y5J1 UPI000051E38C NM_016001.2 tolerated(0.26) benign(0.005) 1/14 Coiled-coils_(Ncoils):Coil,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GGC . . 51260777 ZNF737 . GRCh38 chr19 20544812 20544812 + Missense_Mutation SNP G G C rs572035753 7316-1781 BS_8ZTNXCZJ G G c.1391C>G p.Ser464Trp p.S464W ENST00000427401 4/4 75 58 12 47 43 1 ZNF737,missense_variant,p.Ser464Trp,ENST00000427401,NM_001159293.1;ZNF737,downstream_gene_variant,,ENST00000594419,;ZNF737,upstream_gene_variant,,ENST00000596530,;ZNF737,downstream_gene_variant,,ENST00000597940,; C ENSG00000237440 ENST00000427401 Transcript missense_variant 1486/2867 1391/1611 464/536 S/W tCg/tGg rs572035753,COSM5764448,COSM5764447,COSM4744862,COSM4744861 1 -1 ZNF737 HGNC HGNC:32468 protein_coding YES CCDS54238.1 ENSP00000395733 O75373 UPI0000198506 NM_001159293.1 tolerated(0.51) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0018 0.0061 0.001 0,1,1,1,1 MODERATE 1 SNV 2 0,1,1,1,1 PASS CGA . . 6.539e-05 0.0005943 2.986e-05 0.0003489 20544812 ZNF708 . GRCh38 chr19 21293631 21293631 + Missense_Mutation SNP G G C rs767885213 7316-1781 BS_8ZTNXCZJ G G c.1335C>G p.Asp445Glu p.D445E ENST00000356929 4/4 75 59 12 48 46 0 ZNF708,missense_variant,p.Asp445Glu,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; C ENSG00000182141 ENST00000356929 Transcript missense_variant 1533/4004 1335/1692 445/563 D/E gaC/gaG rs767885213,COSM6290479 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TGT . . 4.116e-06 6.619e-05 21293631 ZNF681 . GRCh38 chr19 23743770 23743770 + Missense_Mutation SNP T T C rs796612733 7316-1781 BS_8ZTNXCZJ T T c.1780A>G p.Lys594Glu p.K594E ENST00000402377 4/4 85 73 11 46 45 0 ZNF681,missense_variant,p.Lys594Glu,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; C ENSG00000196172 ENST00000402377 Transcript missense_variant 1922/6497 1780/1938 594/645 K/E Aaa/Gaa rs796612733,COSM6237827,COSM6237826 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 tolerated(1) benign(0.006) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TTT . . 23743770 ZNF681 . GRCh38 chr19 23744337 23744337 + Missense_Mutation SNP T T G rs1852431 7316-1781 BS_8ZTNXCZJ T T c.1213A>C p.Lys405Gln p.K405Q ENST00000402377 4/4 69 52 13 29 28 1 ZNF681,missense_variant,p.Lys405Gln,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; G ENSG00000196172 ENST00000402377 Transcript missense_variant 1355/6497 1213/1938 405/645 K/Q Aag/Cag rs1852431,COSM6303076,COSM6303075,COSM4744674,COSM4744673 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 tolerated(0.84) benign(0.014) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS TTG . . 23744337 ZNF850 . GRCh38 chr19 36749860 36749860 + Missense_Mutation SNP C C G rs1437913219 7316-1781 BS_8ZTNXCZJ C C c.1180G>C p.Asp394His p.D394H ENST00000591344 5/5 60 49 6 33 32 0 ZNF850,missense_variant,p.Asp394His,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Asp362His,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; G ENSG00000267041 ENST00000591344 Transcript missense_variant 1339/7714 1180/3273 394/1090 D/H Gat/Cat rs1437913219 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 deleterious(0.05) benign(0.009) 5/5 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TCA . . 36749860 ZNF234 . GRCh38 chr19 44157575 44157575 + Missense_Mutation SNP T T A novel 7316-1781 BS_8ZTNXCZJ T T c.1559T>A p.Val520Asp p.V520D ENST00000426739 6/6 76 67 7 38 36 0 ZNF234,missense_variant,p.Val520Asp,ENST00000426739,NM_006630.2;ZNF234,missense_variant,p.Val520Asp,ENST00000592437,NM_001144824.1; A ENSG00000263002 ENST00000426739 Transcript missense_variant 1817/4551 1559/2103 520/700 V/D gTc/gAc 1 1 ZNF234 HGNC HGNC:13027 protein_coding YES CCDS46101.1 ENSP00000400878 Q14588 A0A024R0N3 UPI0000070C95 NM_006630.2 tolerated(0.48) benign(0.058) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GTC . . 44157575 KIR3DL1 . GRCh38 chr19 54817566 54817566 + Missense_Mutation SNP A A G rs1142882 7316-1781 BS_8ZTNXCZJ A A c.67A>G p.Met23Val p.M23V ENST00000391728 2/9 60 41 18 26 24 2 KIR3DL1,missense_variant,p.Met23Val,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Met23Val,ENST00000326542,;KIR3DL1,missense_variant,p.Met23Val,ENST00000358178,;KIR2DL4,downstream_gene_variant,,ENST00000345540,NM_001080770.1;KIR2DL4,downstream_gene_variant,,ENST00000346587,;KIR2DL4,downstream_gene_variant,,ENST00000357494,;KIR2DL4,downstream_gene_variant,,ENST00000359085,NM_001080772.1;KIR2DL4,downstream_gene_variant,,ENST00000396284,;KIR2DL4,downstream_gene_variant,,ENST00000396289,;KIR2DL4,downstream_gene_variant,,ENST00000396293,;KIR2DL4,downstream_gene_variant,,ENST00000463062,;KIR2DL4,downstream_gene_variant,,ENST00000486965,; G ENSG00000167633 ENST00000391728 Transcript missense_variant 100/1871 67/1335 23/444 M/V Atg/Gtg rs1142882,COSM5957946,COSM5957945 1 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629 Q5UCE2 UPI000012DB24 NM_013289.2 tolerated(1) benign(0.001) 2/9 Gene3D:2.60.40.10 0.5311 0.3017 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CAT . . 0.1386 0.3428 0.1284 0.07484 0.3955 0.1099 0.1171 0.08689 0.06491 54817566 SMARCB1 . GRCh38 chr22 23803395 23803395 + Nonsense_Mutation SNP C T T 7316-1781 BS_8ZTNXCZJ C C c.628C>T p.Arg210Ter p.R210* ENST00000344921 5/9 43 2 40 48 47 0 SMARCB1,stop_gained,p.Arg201Ter,ENST00000644036,NM_003073.4;SMARCB1,stop_gained,p.Arg192Ter,ENST00000407422,NM_001007468.2;SMARCB1,stop_gained,p.Arg210Ter,ENST00000344921,NM_001317946.1;SMARCB1,stop_gained,p.Arg155Ter,ENST00000263121,;SMARCB1,stop_gained,p.Arg219Ter,ENST00000417137,;SMARCB1,stop_gained,p.Arg146Ter,ENST00000407082,;SMARCB1,downstream_gene_variant,,ENST00000634926,;SMARCB1,downstream_gene_variant,,ENST00000635578,;SMARCB1,3_prime_UTR_variant,,ENST00000644462,;SMARCB1,3_prime_UTR_variant,,ENST00000644619,;SMARCB1,3_prime_UTR_variant,,ENST00000647057,;SMARCB1,3_prime_UTR_variant,,ENST00000642727,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000646723,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000644467,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000646911,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000643421,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000642275,;SMARCB1,downstream_gene_variant,,ENST00000491967,;SMARCB1,downstream_gene_variant,,ENST00000646421,; T ENSG00000099956 ENST00000344921 Transcript stop_gained 835/1717 628/1185 210/394 R/* Cga/Tga CM992975,COSM993,COSM1415173 1 1 SMARCB1 HGNC HGNC:11103 protein_coding YES CCDS82699.1 ENSP00000340883 G5E975 UPI000013D3AE NM_001317946.1 5/9 hmmpanther:PTHR10019,hmmpanther:PTHR10019:SF5,PIRSF_domain:PIRSF038126,Pfam_domain:PF04855 0,1,1 HIGH 1 SNV 2 1,1,1 1 PASS GCG . . 23803395 WBP2NL . GRCh38 chr22 42026811 42026811 + Missense_Mutation SNP C C T rs879025008 7316-1781 BS_8ZTNXCZJ C C c.560C>T p.Pro187Leu p.P187L ENST00000328823 6/6 38 33 5 36 35 0 WBP2NL,missense_variant,p.Pro187Leu,ENST00000328823,NM_152613.2;WBP2NL,missense_variant,p.Pro113Leu,ENST00000543212,;WBP2NL,non_coding_transcript_exon_variant,,ENST00000475341,;WBP2NL,upstream_gene_variant,,ENST00000487176,;WBP2NL,missense_variant,p.Pro187Leu,ENST00000329620,;WBP2NL,missense_variant,p.Pro151Leu,ENST00000412113,;WBP2NL,missense_variant,p.Pro187Leu,ENST00000436265,;WBP2NL,downstream_gene_variant,,ENST00000445185,;WBP2NL,upstream_gene_variant,,ENST00000470812,; T ENSG00000183066 ENST00000328823 Transcript missense_variant 591/2255 560/930 187/309 P/L cCc/cTc rs879025008,COSM6233947 1 1 WBP2NL HGNC HGNC:28389 protein_coding YES CCDS14029.1 ENSP00000332983 Q6ICG8 UPI00001AF89A NM_152613.2 tolerated(0.13) benign(0.015) 6/6 hmmpanther:PTHR31606,hmmpanther:PTHR31606:SF2,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CCC . . 42026811 TUBGCP6 . GRCh38 chr22 50220893 50220893 + Missense_Mutation SNP G G A novel 7316-1781 BS_8ZTNXCZJ G G c.3466C>T p.Pro1156Ser p.P1156S ENST00000248846 16/25 53 45 6 52 45 0 TUBGCP6,missense_variant,p.Pro1156Ser,ENST00000439308,;TUBGCP6,missense_variant,p.Pro1156Ser,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; A ENSG00000128159 ENST00000248846 Transcript missense_variant 3571/5612 3466/5460 1156/1819 P/S Cca/Tca 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 tolerated(0.09) benign(0.354) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 MODERATE 1 SNV 1 1 PASS GGC . . 50220893 MT-ND4 . GRCh38 chrM 11184 11184 + Missense_Mutation SNP G G A novel 7316-1781 BS_8ZTNXCZJ G G c.425G>A p.Arg142His p.R142H ENST00000361381 1/1 26952 26274 467 3192 3170 3 MT-ND4,missense_variant,p.Arg142His,ENST00000361381,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,; A ENSG00000198886 ENST00000361381 Transcript missense_variant 425/1378 425/1378 142/459 R/H cGc/cAc 1 1 MT-ND4 HGNC HGNC:7459 protein_coding YES ENSP00000354961 P03905 H9EC08 UPI0000000AA8 deleterious_low_confidence(0) probably_damaging(0.996) 1/1 PDB-ENSP_mappings:5xtc.r,PDB-ENSP_mappings:5xtd.r,Pfam_domain:PF00361,hmmpanther:PTHR43507,hmmpanther:PTHR43507:SF1,TIGRFAM_domain:TIGR01972 MODERATE 1 SNV 1 PASS CGC . . 11184 ZNF697 . GRCh38 chr1 119623108 119623108 + Missense_Mutation SNP G G A novel 7316-479 BS_G113MX63 G G c.1235C>T p.Ser412Phe p.S412F ENST00000421812 3/3 49 40 6 25 21 0 ZNF697,missense_variant,p.Ser412Phe,ENST00000421812,NM_001080470.1; A ENSG00000143067 ENST00000421812 Transcript missense_variant 1355/5041 1235/1638 412/545 S/F tCc/tTc 1 -1 ZNF697 HGNC HGNC:32034 protein_coding YES CCDS44202.1 ENSP00000396857 Q5TEC3 UPI0000DD78D7 NM_001080470.1 deleterious(0.03) probably_damaging(0.982) 3/3 Gene3D:2.20.28.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44153,hmmpanther:PTHR44153:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS GGA . . 119623108 FMO5 . GRCh38 chr1 147225019 147225025 + Frame_Shift_Del DEL TTCTTAG TTCTTAG - rs1429079082 7316-479 BS_G113MX63 TTCTTAG TTCTTAG c.5_11del p.Thr2LysfsTer5 p.T2Kfs*5 ENST00000254090 2/9 82 68 11 25 24 0 FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000254090,NM_001461.3;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000369272,NM_001144830.2;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000578284,NM_001144829.2;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000441068,;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000533174,;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000533848,;FMO5,non_coding_transcript_exon_variant,,ENST00000478432,;AC242426.3,intron_variant,,ENST00000606856,;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000527849,;FMO5,non_coding_transcript_exon_variant,,ENST00000619062,;,regulatory_region_variant,,ENSR00000013082,;RPL7AP15,downstream_gene_variant,,ENST00000446956,; - ENSG00000131781 ENST00000254090 Transcript frameshift_variant 394-400/2632 5-11/1602 2-4/533 TKK/X aCTAAGAAa/aa rs1429079082 1 -1 FMO5 HGNC HGNC:3773 protein_coding YES CCDS926.1 ENSP00000254090 P49326 A0A024QYY6 UPI000013CE15 NM_001461.3 2/9 Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR00370,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF78,Superfamily_domains:SSF51905 HIGH 1 deletion 1 PASS TTTTCTTAGT . . 147225018 TCHH . GRCh38 chr1 152108268 152108268 + Missense_Mutation SNP G G T rs530417912 7316-479 BS_G113MX63 G G c.4949C>A p.Pro1650Gln p.P1650Q ENST00000614923 3/3 93 75 11 26 26 0 TCHH,missense_variant,p.Pro1650Gln,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Pro1650Gln,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 5044/6995 4949/5832 1650/1943 P/Q cCg/cAg rs530417912,COSM4221222 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.54) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34855,hmmpanther:PTHR34855 0.0006 0.002 0.001 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGG . . 1.355e-05 0.0001116 152108268 RPTN . GRCh38 chr1 152156009 152156009 + Missense_Mutation SNP C C T rs532048394 7316-479 BS_G113MX63 C C c.1090G>A p.Gly364Ser p.G364S ENST00000316073 3/3 86 73 9 40 40 0 RPTN,missense_variant,p.Gly364Ser,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; T ENSG00000215853 ENST00000316073 Transcript missense_variant 1155/3569 1090/2355 364/784 G/S Ggt/Agt rs532048394 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0.0004 0.0015 MODERATE 1 SNV 1 PASS CCC . . 8.137e-06 1.796e-05 152156009 FLG2 . GRCh38 chr1 152351082 152351082 + Missense_Mutation SNP T T G rs775731398 7316-479 BS_G113MX63 T T c.6704A>C p.Tyr2235Ser p.Y2235S ENST00000388718 3/3 87 68 14 29 27 0 FLG2,missense_variant,p.Tyr2235Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 6777/9124 6704/7176 2235/2391 Y/S tAt/tCt rs775731398 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0.257) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS ATA . . 1.633e-05 0.0001207 152351082 FLG2 . GRCh38 chr1 152351088 152351088 + Missense_Mutation SNP G G C rs765076261 7316-479 BS_G113MX63 G G c.6698C>G p.Ala2233Gly p.A2233G ENST00000388718 3/3 85 71 10 29 27 0 FLG2,missense_variant,p.Ala2233Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 6771/9124 6698/7176 2233/2391 A/G gCc/gGc rs765076261 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.5) benign(0.274) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS GGC . . 1.627e-05 0.0001196 152351088 FLG2 . GRCh38 chr1 152352835 152352835 + Missense_Mutation SNP A A T rs776296902 7316-479 BS_G113MX63 A A c.4951T>A p.Ser1651Thr p.S1651T ENST00000388718 3/3 109 99 10 35 33 0 FLG2,missense_variant,p.Ser1651Thr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 5024/9124 4951/7176 1651/2391 S/T Tct/Act rs776296902 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.24) benign(0.043) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS GAT . . 152352835 NOS1AP . GRCh38 chr1 162357098 162357100 + In_Frame_Del DEL CAG CAG - rs755247437 7316-479 BS_G113MX63 CAG CAG c.916_918del p.Gln306del p.Q306del ENST00000361897 8/10 90 74 6 32 32 0 NOS1AP,inframe_deletion,p.Gln306del,ENST00000361897,NM_014697.2;NOS1AP,inframe_deletion,p.Gln301del,ENST00000530878,NM_001164757.1;NOS1AP,upstream_gene_variant,,ENST00000464284,;NOS1AP,inframe_deletion,p.Gln301del,ENST00000430120,; - ENSG00000198929 ENST00000361897 Transcript inframe_deletion 1303-1305/4931 901-903/1521 301/506 Q/- CAG/- rs755247437,COSM1721299,COSM1721298 1 1 NOS1AP HGNC HGNC:16859 protein_coding YES CCDS1237.1 ENSP00000355133 O75052 UPI000019C573 NM_014697.2 8/10 hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF39,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 deletion 1 15 0,1,1 1 PASS TCCAGC . . 0.0005308 0.000208 6.236e-05 6.077e-05 0.003005 0.0005561 0.0005816 162357097 F5 . GRCh38 chr1 169541199 169541199 + Missense_Mutation SNP T T G rs879251344 7316-479 BS_G113MX63 T T c.3891A>C p.Glu1297Asp p.E1297D ENST00000367797 13/25 46 32 8 22 19 0 F5,missense_variant,p.Glu1302Asp,ENST00000367796,;F5,missense_variant,p.Glu1297Asp,ENST00000367797,NM_000130.4; G ENSG00000198734 ENST00000367797 Transcript missense_variant 4093/7024 3891/6675 1297/2224 E/D gaA/gaC rs879251344,COSM3360469 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(1) benign(0) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTT . . 169541199 ZNF648 . GRCh38 chr1 182056768 182056768 + Missense_Mutation SNP A A T rs1234475620 7316-479 BS_G113MX63 A A c.1243T>A p.Ser415Thr p.S415T ENST00000339948 2/2 94 82 8 45 44 1 ZNF648,missense_variant,p.Ser415Thr,ENST00000339948,NM_001009992.1;,regulatory_region_variant,,ENSR00000016664,; T ENSG00000179930 ENST00000339948 Transcript missense_variant 1451/3649 1243/1707 415/568 S/T Tcg/Acg rs1234475620,COSM6209606 1 -1 ZNF648 HGNC HGNC:18190 protein_coding YES CCDS30952.1 ENSP00000344129 Q5T619 UPI0000161414 NM_001009992.1 tolerated(0.62) benign(0.02) 2/2 PROSITE_profiles:PS50157,hmmpanther:PTHR45320,Gene3D:2.40.155.10,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 182056768 ALMS1 . GRCh38 chr2 73450294 73450294 + Missense_Mutation SNP A A G rs746710172 7316-479 BS_G113MX63 A A c.3767A>G p.Asn1256Ser p.N1256S ENST00000613296 8/23 79 70 9 43 43 0 ALMS1,missense_variant,p.Asn1256Ser,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Asn1214Ser,ENST00000484298,;ALMS1,missense_variant,p.Asn1256Ser,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; G ENSG00000116127 ENST00000613296 Transcript missense_variant 3878/12925 3767/12507 1256/4168 N/S aAt/aGt rs746710172 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 tolerated(1) benign(0) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS AAT . . 4.077e-06 8.995e-06 73450294 ALMS1 . GRCh38 chr2 73451266 73451266 + Missense_Mutation SNP A A T rs1396332575 7316-479 BS_G113MX63 A A c.4739A>T p.Asn1580Ile p.N1580I ENST00000613296 8/23 82 70 9 35 32 0 ALMS1,missense_variant,p.Asn1580Ile,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Asn1538Ile,ENST00000484298,;ALMS1,missense_variant,p.Asn1580Ile,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; T ENSG00000116127 ENST00000613296 Transcript missense_variant 4850/12925 4739/12507 1580/4168 N/I aAc/aTc rs1396332575 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 tolerated(0.17) benign(0) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS AAC . . 73451266 TTN . GRCh38 chr2 178652698 178652698 + Missense_Mutation SNP C C T rs777877044 7316-479 BS_G113MX63 C C c.38998G>A p.Val13000Met p.V13000M ENST00000589042 201/363 84 71 9 34 32 0 TTN,missense_variant,p.Val13000Met,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; T ENSG00000155657 ENST00000589042 Transcript missense_variant 39223/109224 38998/107976 13000/35991 V/M Gtg/Atg rs777877044 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 unknown(0) 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ACT . . 8.207e-06 1.819e-05 178652698 MUC4 . GRCh38 chr3 195785623 195785623 + Missense_Mutation SNP G G T 7316-479 BS_G113MX63 G G c.5957C>A p.Pro1986His p.P1986H ENST00000463781 2/25 56 43 6 31 28 0 MUC4,missense_variant,p.Pro1986His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro1986His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro1986His,ENST00000478156,;MUC4,missense_variant,p.Pro1986His,ENST00000466475,;MUC4,missense_variant,p.Pro1986His,ENST00000477756,;MUC4,missense_variant,p.Pro1986His,ENST00000477086,;MUC4,missense_variant,p.Pro1986His,ENST00000480843,;MUC4,missense_variant,p.Pro1986His,ENST00000462323,;MUC4,missense_variant,p.Pro1986His,ENST00000470451,;MUC4,missense_variant,p.Pro1986His,ENST00000479406,;,regulatory_region_variant,,ENSR00000308218,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 6417/17110 5957/16239 1986/5412 P/H cCt/cAt COSM6993737 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.16) benign(0.102) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS AGG . . 195785623 MUC17 . GRCh38 chr7 101036148 101036148 + Missense_Mutation SNP T T A rs140211003 7316-479 BS_G113MX63 T T c.4732T>A p.Leu1578Met p.L1578M ENST00000306151 3/13 62 54 5 29 28 0 MUC17,missense_variant,p.Leu1578Met,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Leu1578Met,ENST00000379439,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 4796/14247 4732/13482 1578/4493 L/M Ttg/Atg rs140211003,COSM5034281 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.5) benign(0) 3/13 hmmpanther:PTHR37999 0,1 MODERATE 1 SNV 1 0,1 PASS TTT . . 101036148 MUC17 . GRCh38 chr7 101041978 101041978 + Missense_Mutation SNP A A T rs760114087 7316-479 BS_G113MX63 A A c.10562A>T p.Asn3521Ile p.N3521I ENST00000306151 3/13 67 53 7 24 22 0 MUC17,missense_variant,p.Asn3521Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn3521Ile,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 10626/14247 10562/13482 3521/4493 N/I aAt/aTt rs760114087,COSM6449659 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.1) benign(0.246) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS AAT . . 1.28e-05 2.76e-05 101041978 EPPK1 . GRCh38 chr8 143872994 143872994 + Missense_Mutation SNP A A G rs1215633769 7316-479 BS_G113MX63 A A c.260T>C p.Leu87Pro p.L87P ENST00000615648 2/2 72 60 9 34 33 0 EPPK1,missense_variant,p.Leu87Pro,ENST00000615648,NM_031308.3;EPPK1,missense_variant,p.Leu62Pro,ENST00000568225,; G ENSG00000261150 ENST00000615648 Transcript missense_variant 332/16002 260/15267 87/5088 L/P cTc/cCc rs1215633769 1 -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107 UPI0002065B93 NM_031308.3 tolerated(1) benign(0) 2/2 Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2,SMART_domains:SM00250,Superfamily_domains:SSF75399 MODERATE 1 SNV 5 PASS GAG . . 2.883e-05 0.0001422 6.441e-05 1.059e-05 143872994 SPATA31E1 . GRCh38 chr9 87882938 87882938 + Missense_Mutation SNP T T G rs577577000 7316-479 BS_G113MX63 T T c.47T>G p.Val16Gly p.V16G ENST00000325643 1/4 73 65 8 34 34 0 SPATA31E1,missense_variant,p.Val16Gly,ENST00000325643,NM_178828.4; G ENSG00000177992 ENST00000325643 Transcript missense_variant 113/4478 47/4338 16/1445 V/G gTt/gGt rs577577000,COSM5956726 1 1 SPATA31E1 HGNC HGNC:26672 protein_coding YES CCDS6676.1 ENSP00000322640 Q6ZUB1 UPI000036764A NM_178828.4 benign(0) 1/4 0,1 MODERATE 1 SNV 1 0,1 PASS GTT . . 0.00013 6.851e-05 0.0004359 0.0001224 4.507e-05 4.595e-05 0.0001916 0.0002364 87882938 MUC5AC . GRCh38 chr11 1186447 1186447 + Missense_Mutation SNP A A C rs1223536229 7316-479 BS_G113MX63 A A c.8302A>C p.Thr2768Pro p.T2768P ENST00000621226 31/49 60 47 9 35 30 1 MUC5AC,missense_variant,p.Thr2768Pro,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 8349/17448 8302/16965 2768/5654 T/P Act/Cct rs1223536229 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.18) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GAC . . 1186447 MUC5AC . GRCh38 chr11 1190950 1190950 + Missense_Mutation SNP G G C rs1459707586 7316-479 BS_G113MX63 G G c.12805G>C p.Ala4269Pro p.A4269P ENST00000621226 31/49 78 58 11 36 33 0 MUC5AC,missense_variant,p.Ala4269Pro,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 12852/17448 12805/16965 4269/5654 A/P Gct/Cct rs1459707586 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated_low_confidence(0.2) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TGC . . 1190950 PLEKHG7 . GRCh38 chr12 92755945 92755945 + Splice_Region DEL A A - rs756626618 7316-479 BS_G113MX63 A A c.606+14del ENST00000638590 86 75 5 47 44 0 PLEKHG7,splice_region_variant,,ENST00000344636,;PLEKHG7,splice_region_variant,,ENST00000638590,NM_001004330.2; - ENSG00000187510 ENST00000638590 Transcript splice_region_variant,intron_variant rs756626618,TMP_ESP_12_93149721_93149721,COSM5493008 1 1 PLEKHG7 HGNC HGNC:33829 protein_coding YES CCDS31873.1 ENSP00000492692 Q6ZR37 UPI00001C1015 NM_001004330.2 7/11 0.0412 0.04074 0,0,1 LOW 1 deletion 2 9 0,0,1 PASS ACAA . . 0.009965 0.007204 0.01913 0.01548 0.01086 0.003777 0.008144 0.01171 0.01514 92755944 PABPC3 . GRCh38 chr13 25097469 25097469 + Missense_Mutation SNP G G A rs117378456 7316-479 BS_G113MX63 G G c.1271G>A p.Arg424Gln p.R424Q ENST00000281589 1/1 94 74 20 39 38 1 PABPC3,missense_variant,p.Arg424Gln,ENST00000281589,NM_030979.2;,regulatory_region_variant,,ENSR00000271233,; A ENSG00000151846 ENST00000281589 Transcript missense_variant 1602/3387 1271/1896 424/631 R/Q cGa/cAa rs117378456,COSM4213859 1 1 PABPC3 HGNC HGNC:8556 protein_coding YES CCDS9311.1 ENSP00000281589 Q9H361 Q5VX58 UPI00001311AB NM_030979.2 tolerated(1) benign(0) 1/1 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,TIGRFAM_domain:TIGR01628 0.0851 0.1399 0.0562 0.0496 0.0348 0.1196 0,1 MODERATE 1 SNV 0,1 PASS CGA . . 4.072e-06 8.973e-06 25097469 ADPRHL1 . GRCh38 chr13 113403869 113403869 + Missense_Mutation SNP G G A rs12385889 7316-479 BS_G113MX63 G G c.5413C>T p.Arg1805Trp p.R1805W ENST00000612156 8/8 118 108 7 48 48 0 ADPRHL1,missense_variant,p.Arg1805Trp,ENST00000612156,; A ENSG00000153531 ENST00000612156 Transcript missense_variant 5500/9759 5413/5904 1805/1967 R/W Cgg/Tgg rs12385889 1 -1 ADPRHL1 HGNC HGNC:21303 protein_coding ENSP00000489048 A0A0U1RQK4 UPI000719A14C deleterious_low_confidence(0) unknown(0) 8/8 mobidb-lite MODERATE 1 SNV 5 PASS CGA . . 113403869 ISM2 . GRCh38 chr14 77484870 77484870 + Missense_Mutation SNP G G C rs995267805 7316-479 BS_G113MX63 G G c.191C>G p.Pro64Arg p.P64R ENST00000342219 2/7 68 59 8 30 29 0 ISM2,missense_variant,p.Pro64Arg,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Pro64Arg,ENST00000493585,NM_182509.3;ISM2,missense_variant,p.Pro64Arg,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,; C ENSG00000100593 ENST00000342219 Transcript missense_variant 248/2971 191/1716 64/571 P/R cCa/cGa rs995267805 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 deleterious_low_confidence(0.04) benign(0.328) 2/7 hmmpanther:PTHR10239,hmmpanther:PTHR10239:SF28,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TGG . . 0.001371 0.002056 0.002179 0.001284 0.003088 9.756e-05 0.0009434 0.001783 0.001752 77484870 ISM2 . GRCh38 chr14 77484888 77484888 + Missense_Mutation SNP T T C rs191144361 7316-479 BS_G113MX63 T T c.173A>G p.Lys58Arg p.K58R ENST00000342219 2/7 82 70 10 36 35 0 ISM2,missense_variant,p.Lys58Arg,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Lys58Arg,ENST00000493585,NM_182509.3;ISM2,missense_variant,p.Lys58Arg,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,; C ENSG00000100593 ENST00000342219 Transcript missense_variant 230/2971 173/1716 58/571 K/R aAg/aGg rs191144361,COSM5950673 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 tolerated_low_confidence(1) benign(0) 2/7 hmmpanther:PTHR10239,hmmpanther:PTHR10239:SF28,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CTT . . 0.001351 0.001287 0.002172 0.001609 0.003138 5.107e-05 0.001114 0.001518 0.001335 77484888 KRTAP9-7 . GRCh38 chr17 41276161 41276161 + Missense_Mutation SNP T T G 7316-479 BS_G113MX63 T T c.464T>G p.Phe155Cys p.F155C ENST00000391354 1/1 83 69 13 29 29 0 KRTAP9-7,missense_variant,p.Phe155Cys,ENST00000391354,NM_001277332.1;KRTAP9-11P,downstream_gene_variant,,ENST00000431013,;KRTAP9-10P,upstream_gene_variant,,ENST00000435672,; G ENSG00000180386 ENST00000391354 Transcript missense_variant 503/1039 464/510 155/169 F/C tTc/tGc COSM6213609 1 1 KRTAP9-7 HGNC HGNC:18915 protein_coding YES CCDS59287.1 ENSP00000375149 A8MTY7 UPI0000DD83F7 NM_001277332.1 tolerated(0.75) probably_damaging(0.929) 1/1 hmmpanther:PTHR23262:SF140,hmmpanther:PTHR23262,Pfam_domain:PF13885 1 MODERATE 1 SNV 1 PASS TTC . . 41276161 MIR4527HG . GRCh38 chr18 47577063 47577063 + Splice_Region SNP T T A rs913775469 7316-479 BS_G113MX63 T T n.352-3T>A ENST00000600127 80 62 6 39 29 0 MIR4527HG,splice_region_variant,,ENST00000600127,;MIR4527HG,intron_variant,,ENST00000586905,;MIR4527HG,downstream_gene_variant,,ENST00000598649,; A ENSG00000267761 ENST00000600127 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs913775469 1 1 MIR4527HG HGNC HGNC:31724 lincRNA YES 1/3 LOW 1 SNV 5 PASS TTA . . 47577063 ARID3A . GRCh38 chr19 932467 932469 + In_Frame_Del DEL GAG GAG - rs745547598 7316-479 BS_G113MX63 GAG GAG c.435_437del p.Glu145del p.E145del ENST00000263620 3/9 73 61 5 39 34 0 ARID3A,inframe_deletion,p.Glu145del,ENST00000263620,NM_005224.2;ARID3A,upstream_gene_variant,,ENST00000587532,;AC005379.1,upstream_gene_variant,,ENST00000585647,;ARID3A,downstream_gene_variant,,ENST00000585895,;ARID3A,downstream_gene_variant,,ENST00000592216,;ARID3A,upstream_gene_variant,,ENST00000457152,;,regulatory_region_variant,,ENSR00000105577,; - ENSG00000116017 ENST00000263620 Transcript inframe_deletion 708-710/5941 418-420/1782 140/593 E/- GAG/- rs745547598,TMP_ESP_19_932467_932472 1 1 ARID3A HGNC HGNC:3031 protein_coding YES CCDS12050.1 ENSP00000263620 Q99856 UPI0000129881 NM_005224.2 3/9 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15348:SF1,hmmpanther:PTHR15348 0.04667 0.05787 MODERATE 1 deletion 1 17 PASS ATGAGG . . 0.02854 0.02887 0.04427 0.02912 0.03582 0.01318 0.0247 0.03478 0.04068 932466 ZNF441 . GRCh38 chr19 11781355 11781355 + Missense_Mutation SNP A A G rs1348863882 7316-479 BS_G113MX63 A A c.1531A>G p.Ser511Gly p.S511G ENST00000357901 4/4 79 66 8 30 29 0 ZNF441,missense_variant,p.Ser511Gly,ENST00000357901,NM_152355.2;ZNF441,3_prime_UTR_variant,,ENST00000409902,;ZNF441,downstream_gene_variant,,ENST00000462251,; G ENSG00000197044 ENST00000357901 Transcript missense_variant 1633/4356 1531/2082 511/693 S/G Agc/Ggc rs1348863882 1 1 ZNF441 HGNC HGNC:20875 protein_coding YES CCDS12266.2 ENSP00000350576 Q8N8Z8 UPI000059D677 NM_152355.2 deleterious(0.05) benign(0.01) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF22,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS AAG . . 11781355 ZNF430 . GRCh38 chr19 21057605 21057605 + Missense_Mutation SNP C C G rs758642651 7316-479 BS_G113MX63 C C c.1297C>G p.Gln433Glu p.Q433E ENST00000261560 5/5 69 57 8 39 38 0 ZNF430,missense_variant,p.Gln433Glu,ENST00000261560,NM_001172671.1,NM_025189.3;ZNF430,upstream_gene_variant,,ENST00000597922,;ZNF430,downstream_gene_variant,,ENST00000599548,; G ENSG00000118620 ENST00000261560 Transcript missense_variant 1478/3923 1297/1713 433/570 Q/E Caa/Gaa rs758642651,COSM1723393 1 1 ZNF430 HGNC HGNC:20808 protein_coding YES CCDS32978.1 ENSP00000261560 Q9H8G1 UPI000020389E NM_001172671.1,NM_025189.3 tolerated(1) benign(0) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF131,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ACA . . 4.108e-06 5.821e-05 21057605 ZNF430 . GRCh38 chr19 21057737 21057737 + Missense_Mutation SNP G G A rs539827140 7316-479 BS_G113MX63 G G c.1429G>A p.Val477Ile p.V477I ENST00000261560 5/5 72 60 10 34 33 0 ZNF430,missense_variant,p.Val477Ile,ENST00000261560,NM_001172671.1,NM_025189.3;ZNF430,upstream_gene_variant,,ENST00000597922,;ZNF430,downstream_gene_variant,,ENST00000599548,; A ENSG00000118620 ENST00000261560 Transcript missense_variant 1610/3923 1429/1713 477/570 V/I Gta/Ata rs539827140,COSM349536 1 1 ZNF430 HGNC HGNC:20808 protein_coding YES CCDS32978.1 ENSP00000261560 Q9H8G1 UPI000020389E NM_001172671.1,NM_025189.3 tolerated(0.2) benign(0.001) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF131,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0004 0.0008 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS GGT . . 4.617e-06 7.8e-05 21057737 ZNF708 . GRCh38 chr19 21294013 21294013 + Missense_Mutation SNP G G T rs1327437728 7316-479 BS_G113MX63 G G c.953C>A p.Thr318Asn p.T318N ENST00000356929 4/4 90 77 5 35 34 0 ZNF708,missense_variant,p.Thr318Asn,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; T ENSG00000182141 ENST00000356929 Transcript missense_variant 1151/4004 953/1692 318/563 T/N aCc/aAc rs1327437728 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 tolerated(1) benign(0.011) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GGT . . 21294013 ZNF724 . GRCh38 chr19 23222888 23222888 + Missense_Mutation SNP T T C rs879150264 7316-479 BS_G113MX63 T T c.1357A>G p.Lys453Glu p.K453E ENST00000418100 4/4 69 56 10 33 32 0 ZNF724,missense_variant,p.Lys453Glu,ENST00000418100,NM_001355404.1,NM_001355406.1,NM_001355405.1;AC092329.3,missense_variant,p.Lys447Glu,ENST00000611392,;ZNF724,downstream_gene_variant,,ENST00000597537,; C ENSG00000196081 ENST00000418100 Transcript missense_variant 1475/2764 1357/1860 453/619 K/E Aaa/Gaa rs879150264,COSM4740117,COSM4740116 1 -1 ZNF724 HGNC HGNC:32460 protein_coding YES ENSP00000413411 A8MTY0 UPI0000EE61E4 NM_001355404.1,NM_001355406.1,NM_001355405.1 tolerated(1) benign(0) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TTA . . 4.132e-06 9.125e-06 23222888 SRRM5 . GRCh38 chr19 43613837 43613837 + Missense_Mutation SNP G G T rs1369887805 7316-479 BS_G113MX63 G G c.1716G>T p.Trp572Cys p.W572C ENST00000607544 3/3 64 50 10 34 34 0 SRRM5,missense_variant,p.Trp572Cys,ENST00000607544,;SRRM5,missense_variant,p.Trp572Cys,ENST00000417606,NM_001145641.1;ZNF428,intron_variant,,ENST00000300811,NM_182498.3;ZNF428,intron_variant,,ENST00000598676,;ZNF428,downstream_gene_variant,,ENST00000595304,; T ENSG00000226763 ENST00000607544 Transcript missense_variant 2038/2698 1716/2148 572/715 W/C tgG/tgT rs1369887805,COSM6235337,COSM6235336 1 1 SRRM5 HGNC HGNC:37248 protein_coding YES CCDS46095.1 ENSP00000476253 B3KS81 UPI000059D73E tolerated(0.2) benign(0.014) 3/3 hmmpanther:PTHR39414,mobidb-lite 0,1,1 MODERATE SNV 2 0,1,1 PASS GGA . . 43613837 ZNF888 . GRCh38 chr19 52906808 52906808 + Missense_Mutation SNP C C T rs1206930075 7316-479 BS_G113MX63 C C c.1514G>A p.Arg505His p.R505H ENST00000638862 5/5 69 58 8 45 41 0 ZNF888,missense_variant,p.Arg505His,ENST00000638862,NM_001310127.1;AC010487.3,intron_variant,,ENST00000634278,;ZNF888,downstream_gene_variant,,ENST00000596623,; T ENSG00000213793 ENST00000638862 Transcript missense_variant 1804/4195 1514/2157 505/718 R/H cGt/cAt rs1206930075 1 -1 ZNF888 HGNC HGNC:38695 protein_coding YES ENSP00000491567 P0CJ79 UPI0002742DD9 NM_001310127.1 tolerated(0.59) possibly_damaging(0.527) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,hmmpanther:PTHR24377:SF644,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE SNV 5 PASS ACG . . 52906808 ZNF347 . GRCh38 chr19 53141063 53141063 + Missense_Mutation SNP C C T rs746706460 7316-479 BS_G113MX63 C C c.1768G>A p.Gly590Arg p.G590R ENST00000452676 5/5 52 41 7 28 27 0 ZNF347,missense_variant,p.Gly589Arg,ENST00000334197,NM_032584.2;ZNF347,missense_variant,p.Gly590Arg,ENST00000452676,NM_001172674.1;ZNF347,missense_variant,p.Gly590Arg,ENST00000601469,NM_001172675.1;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000595967,;ZNF347,downstream_gene_variant,,ENST00000597183,; T ENSG00000197937 ENST00000452676 Transcript missense_variant 2195/4553 1768/2523 590/840 G/R Gga/Aga rs746706460 1 -1 ZNF347 HGNC HGNC:16447 protein_coding YES CCDS54314.1 ENSP00000405218 Q96SE7 A0A024R4L7 UPI000059D78C NM_001172674.1 tolerated(1) benign(0.006) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF625,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CCC . . 8.549e-06 1.834e-05 53141063 ZNF665 . GRCh38 chr19 53164941 53164941 + Missense_Mutation SNP T T C rs772843403 7316-479 BS_G113MX63 T T c.1549A>G p.Asn517Asp p.N517D ENST00000396424 4/4 72 66 6 42 41 0 ZNF665,missense_variant,p.Asn517Asp,ENST00000396424,NM_024733.3;ZNF665,missense_variant,p.Asn452Asp,ENST00000600412,;AC092070.1,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,; C ENSG00000197497 ENST00000396424 Transcript missense_variant 1639/4159 1549/2037 517/678 N/D Aat/Gat rs772843403 1 -1 ZNF665 HGNC HGNC:25885 protein_coding YES CCDS46169.1 ENSP00000379702 Q9H7R5 UPI000059D78D NM_024733.3 tolerated(0.22) benign(0.041) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF609,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TTA . . 1.218e-05 8.971e-05 0.0001824 53164941 ZNF548 . GRCh38 chr19 57399612 57399612 + Missense_Mutation SNP A A T novel 7316-479 BS_G113MX63 A A c.1361A>T p.Asn454Ile p.N454I ENST00000336128 4/4 79 67 8 48 47 0 ZNF548,missense_variant,p.Asn442Ile,ENST00000366197,NM_152909.3;ZNF548,missense_variant,p.Asn454Ile,ENST00000336128,NM_001172773.1;AC003002.3,intron_variant,,ENST00000596400,;AC003002.3,intron_variant,,ENST00000596617,;AC003002.2,intron_variant,,ENST00000597410,;ZNF548,downstream_gene_variant,,ENST00000594668,;ZNF548,downstream_gene_variant,,ENST00000594693,;ZNF548,downstream_gene_variant,,ENST00000596282,;ZNF548,downstream_gene_variant,,ENST00000597400,;AC003002.1,downstream_gene_variant,,ENST00000597658,;ZNF548,downstream_gene_variant,,ENST00000598895,;ZNF548,downstream_gene_variant,,ENST00000600927,;AC003002.3,intron_variant,,ENST00000600421,;ZNF548,downstream_gene_variant,,ENST00000597047,;ZNF548,downstream_gene_variant,,ENST00000597576,;ZNF548,downstream_gene_variant,,ENST00000600442,;ZNF548,downstream_gene_variant,,ENST00000602086,; T ENSG00000188785 ENST00000336128 Transcript missense_variant 1564/2115 1361/1638 454/545 N/I aAt/aTt 1 1 ZNF548 HGNC HGNC:26561 protein_coding YES CCDS54324.1 ENSP00000337555 Q8NEK5 UPI000059D7C2 NM_001172773.1 tolerated(0.82) benign(0.005) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF636,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS AAT . . 57399612 FAM47B . GRCh38 chrX 34943807 34943807 + Missense_Mutation SNP G G A rs755808523 7316-479 BS_G113MX63 G G c.976G>A p.Ala326Thr p.A326T ENST00000329357 1/1 48 41 6 19 19 0 FAM47B,missense_variant,p.Ala326Thr,ENST00000329357,NM_152631.2; A ENSG00000189132 ENST00000329357 Transcript missense_variant 1012/2120 976/1938 326/645 A/T Gct/Act rs755808523 1 1 FAM47B HGNC HGNC:26659 protein_coding YES CCDS14236.1 ENSP00000328307 Q8NA70 UPI000013F47B NM_152631.2 tolerated(1) benign(0) 1/1 Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192 MODERATE 1 SNV PASS GGC . . 5.601e-06 1.249e-05 34943807 TEX13D . GRCh38 chrX 124334806 124334806 + Missense_Mutation SNP G G A rs1023730611 7316-479 BS_G113MX63 G G c.1889G>A p.Gly630Asp p.G630D ENST00000632372 1/1 44 36 8 15 15 0 TEX13D,missense_variant,p.Gly630Asp,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; A ENSG00000282419 ENST00000632372 Transcript missense_variant 2147/4203 1889/2145 630/714 G/D gGc/gAc rs1023730611,COSM5956512 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.52) benign(0.035) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite 0,1 MODERATE 1 SNV 0,1 PASS GGC . . 124334806 MAGEC1 . GRCh38 chrX 141906342 141906342 + Missense_Mutation SNP C C A rs780592490 7316-479 BS_G113MX63 C C c.938C>A p.Ser313Tyr p.S313Y ENST00000285879 4/4 41 33 6 25 24 0 MAGEC1,missense_variant,p.Ser313Tyr,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; A ENSG00000155495 ENST00000285879 Transcript missense_variant 1224/4270 938/3429 313/1142 S/Y tCc/tAc rs780592490,COSM3558665 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(0.13) possibly_damaging(0.608) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,hmmpanther:PTHR11736:SF17,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 141906342 COL16A1 . GRCh38 chr1 31655478 31655479 + Frame_Shift_Del DEL TC TC - novel 7316-1790 BS_W75GCHPW TC TC c.4125_4126del p.Lys1376GlyfsTer61 p.K1376Gfs*61 ENST00000373672 67/71 51 37 10 36 36 0 COL16A1,frameshift_variant,p.Lys1376GlyfsTer61,ENST00000373672,NM_001856.3;COL16A1,downstream_gene_variant,,ENST00000440437,;AC114488.2,intron_variant,,ENST00000585413,;AC114488.2,intron_variant,,ENST00000585660,;AC114488.2,intron_variant,,ENST00000587445,;AC114488.2,intron_variant,,ENST00000589462,;AC114488.2,intron_variant,,ENST00000591592,;AC114488.2,intron_variant,,ENST00000591929,;AC114488.2,intron_variant,,ENST00000593188,;AC114488.2,intron_variant,,ENST00000607926,;AC114488.2,intron_variant,,ENST00000608246,;AC114488.2,intron_variant,,ENST00000608332,;AC114488.2,intron_variant,,ENST00000608888,;AC114488.2,intron_variant,,ENST00000609033,;AC114488.2,intron_variant,,ENST00000609338,;AC114488.2,intron_variant,,ENST00000609373,;AC114488.2,intron_variant,,ENST00000609549,;AC114488.2,intron_variant,,ENST00000609625,;AC114488.2,intron_variant,,ENST00000610043,;AC114488.2,intron_variant,,ENST00000610216,;AC114488.2,intron_variant,,ENST00000623425,;AC114488.2,intron_variant,,ENST00000623791,;AC114488.2,intron_variant,,ENST00000624388,;AC114488.2,upstream_gene_variant,,ENST00000445166,;AC114488.2,upstream_gene_variant,,ENST00000588288,;AC114488.2,upstream_gene_variant,,ENST00000623786,;COL16A1,non_coding_transcript_exon_variant,,ENST00000461217,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488897,; - ENSG00000084636 ENST00000373672 Transcript frameshift_variant 4642-4643/5736 4125-4126/4815 1375-1376/1604 QK/QX caGAag/caag 1 -1 COL16A1 HGNC HGNC:2193 protein_coding YES CCDS41297.1 ENSP00000362776 Q07092 UPI0000203DD1 NM_001856.3 67/71 hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372,mobidb-lite,Low_complexity_(Seg):seg HIGH 1 deletion 5 PASS CTTCT . . 31655477 SZT2 . GRCh38 chr1 43439770 43439770 + Splice_Site SNP G G A novel 7316-1790 BS_W75GCHPW G G c.6871+1G>A p.X2291_splice ENST00000562955 73 63 7 45 45 0 SZT2,splice_donor_variant,,ENST00000562955,NM_015284.3;SZT2,splice_donor_variant,,ENST00000634258,;SZT2,downstream_gene_variant,,ENST00000470897,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,upstream_gene_variant,,ENST00000638263,;SZT2,downstream_gene_variant,,ENST00000639197,; A ENSG00000198198 ENST00000562955 Transcript splice_donor_variant 1 1 SZT2 HGNC HGNC:29040 protein_coding YES CCDS30694.2 ENSP00000457168 Q5T011 UPI0001E24F46 NM_015284.3 49/70 HIGH 1 SNV 5 1 PASS GGT . . 43439770 EPS8L3 . GRCh38 chr1 109761527 109761527 + Missense_Mutation SNP A A T rs754713077 7316-1790 BS_W75GCHPW A A c.64T>A p.Ser22Thr p.S22T ENST00000369805 3/19 57 43 13 19 19 0 EPS8L3,missense_variant,p.Ser22Thr,ENST00000369805,NM_139053.2;EPS8L3,missense_variant,p.Ser22Thr,ENST00000361852,NM_024526.3,NM_001319952.1;EPS8L3,missense_variant,p.Ser22Thr,ENST00000361965,NM_133181.3;AL158847.1,intron_variant,,ENST00000431955,;EPS8L3,non_coding_transcript_exon_variant,,ENST00000477568,;GSTM5,intron_variant,,ENST00000429410,;EPS8L3,upstream_gene_variant,,ENST00000494151,;EPS8L3,missense_variant,p.Ser22Thr,ENST00000472325,; T ENSG00000198758 ENST00000369805 Transcript missense_variant 294/2325 64/1785 22/594 S/T Tca/Aca rs754713077 1 -1 EPS8L3 HGNC HGNC:21297 protein_coding YES CCDS815.1 ENSP00000358820 Q8TE67 UPI00001613C9 NM_139053.2 tolerated(0.2) benign(0.015) 3/19 hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF22 MODERATE 1 SNV 1 1 PASS GAG . . 4.077e-06 3.251e-05 109761527 CSF1 . GRCh38 chr1 109923207 109923207 + Missense_Mutation SNP G G A rs1249762078 7316-1790 BS_W75GCHPW G G c.586G>A p.Ala196Thr p.A196T ENST00000329608 6/9 65 48 16 27 26 0 CSF1,missense_variant,p.Ala196Thr,ENST00000329608,NM_000757.5;CSF1,missense_variant,p.Ala196Thr,ENST00000369802,NM_172212.2;CSF1,missense_variant,p.Ala196Thr,ENST00000369801,NM_172210.2;CSF1,missense_variant,p.Ala155Thr,ENST00000488198,;CSF1,intron_variant,,ENST00000420111,NM_172211.3;CSF1,downstream_gene_variant,,ENST00000525659,;CSF1,downstream_gene_variant,,ENST00000527192,;CSF1,downstream_gene_variant,,ENST00000526001,; A ENSG00000184371 ENST00000329608 Transcript missense_variant 977/4210 586/1665 196/554 A/T Gcc/Acc rs1249762078,COSM4553289,COSM4553288 1 1 CSF1 HGNC HGNC:2432 protein_coding YES CCDS816.1 ENSP00000327513 P09603 UPI00001AFA6F NM_000757.5 tolerated(0.11) probably_damaging(0.993) 6/9 hmmpanther:PTHR10058,PIRSF_domain:PIRSF001948 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGC . . 5.406e-06 1.144e-05 109923207 TCHH . GRCh38 chr1 152110008 152110008 + Missense_Mutation SNP G G T rs377407296 7316-1790 BS_W75GCHPW G G c.3209C>A p.Thr1070Lys p.T1070K ENST00000614923 3/3 119 91 17 35 32 0 TCHH,missense_variant,p.Thr1070Lys,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Thr1070Lys,ENST00000368804,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 3304/6995 3209/5832 1070/1943 T/K aCg/aAg rs377407296,COSM229428 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 deleterious_low_confidence(0.03) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGT . . 0.004979 0.007723 0.008659 0.002346 0.01367 0.0007818 0.003205 0.007886 0.006747 152110008 ATP8B2 . GRCh38 chr1 154344062 154344062 + Splice_Region SNP G G A rs765364561 7316-1790 BS_W75GCHPW G G c.2022+5G>A ENST00000368489 94 67 24 45 44 0 ATP8B2,splice_region_variant,,ENST00000368489,NM_020452.3;ATP8B2,downstream_gene_variant,,ENST00000426445,;ATP8B2,upstream_gene_variant,,ENST00000505882,; A ENSG00000143515 ENST00000368489 Transcript splice_region_variant,intron_variant rs765364561 1 1 ATP8B2 HGNC HGNC:13534 protein_coding YES CCDS1066.1 ENSP00000357475 P98198 UPI00001B92AB NM_020452.3 18/27 LOW 1 SNV 1 PASS CGG . . 2.847e-05 6.535e-05 5.798e-05 4.486e-05 154344062 ITLN1 . GRCh38 chr1 160881295 160881295 + Missense_Mutation SNP G G T novel 7316-1790 BS_W75GCHPW G G c.423C>A p.Asp141Glu p.D141E ENST00000326245 5/8 96 63 30 24 24 0 ITLN1,missense_variant,p.Asp141Glu,ENST00000326245,NM_017625.2;ITLN1,non_coding_transcript_exon_variant,,ENST00000487531,;ITLN1,non_coding_transcript_exon_variant,,ENST00000464077,; T ENSG00000179914 ENST00000326245 Transcript missense_variant 539/1183 423/942 141/313 D/E gaC/gaA 1 -1 ITLN1 HGNC HGNC:18259 protein_coding YES CCDS1211.1 ENSP00000323587 Q8WWA0 UPI0000032AA3 NM_017625.2 tolerated(0.06) possibly_damaging(0.843) 5/8 Gene3D:3.90.215.10,PDB-ENSP_mappings:4wmq.A,PDB-ENSP_mappings:4wmq.B,PDB-ENSP_mappings:4wmy.A,PDB-ENSP_mappings:4wmy.B,hmmpanther:PTHR16146,hmmpanther:PTHR16146:SF38,Superfamily_domains:SSF56496 MODERATE 1 SNV 1 PASS TGT . . 160881295 MYOC . GRCh38 chr1 171652042 171652042 + Missense_Mutation SNP G G C novel 7316-1790 BS_W75GCHPW G G c.570C>G p.Asp190Glu p.D190E ENST00000037502 1/3 91 76 14 34 34 0 MYOC,missense_variant,p.Asp190Glu,ENST00000037502,NM_000261.1;MYOC,intron_variant,,ENST00000638471,; C ENSG00000034971 ENST00000037502 Transcript missense_variant 642/2095 570/1515 190/504 D/E gaC/gaG 1 -1 MYOC HGNC HGNC:7610 protein_coding YES CCDS1297.1 ENSP00000037502 Q99972 A0A0S2Z421 UPI00000012D6 NM_000261.1 tolerated(1) benign(0.001) 1/3 Gene3D:1.20.120.330,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF33,mobidb-lite MODERATE 1 SNV 1 1 PASS TGT . . 171652042 HMCN1 . GRCh38 chr1 186095481 186095481 + Missense_Mutation SNP A A C novel 7316-1790 BS_W75GCHPW A A c.10533A>C p.Glu3511Asp p.E3511D ENST00000271588 68/107 102 92 7 47 47 0 HMCN1,missense_variant,p.Glu3511Asp,ENST00000271588,NM_031935.2; C ENSG00000143341 ENST00000271588 Transcript missense_variant 10762/18208 10533/16908 3511/5635 E/D gaA/gaC 1 1 HMCN1 HGNC HGNC:19194 protein_coding YES CCDS30956.1 ENSP00000271588 Q96RW7 UPI0000458C0E NM_031935.2 tolerated(0.14) benign(0.014) 68/107 Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR44338,hmmpanther:PTHR44338:SF3,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 1 PASS AAG . . 186095481 CYB5R1 . GRCh38 chr1 202963071 202963071 + Frame_Shift_Del DEL G G - novel 7316-1790 BS_W75GCHPW G G c.740del p.Pro247GlnfsTer11 p.P247Qfs*11 ENST00000367249 8/9 108 84 16 40 39 0 CYB5R1,frameshift_variant,p.Pro247GlnfsTer11,ENST00000367249,NM_016243.2;CYB5R1,frameshift_variant,p.Pro179GlnfsTer25,ENST00000446185,;ADIPOR1,upstream_gene_variant,,ENST00000340990,NM_001290557.1,NM_001290629.1,NM_015999.5,NM_001290553.1;ADIPOR1,upstream_gene_variant,,ENST00000367254,;ADIPOR1,upstream_gene_variant,,ENST00000417068,;ADIPOR1,upstream_gene_variant,,ENST00000426229,;CYB5R1,non_coding_transcript_exon_variant,,ENST00000497655,;CYB5R1,non_coding_transcript_exon_variant,,ENST00000482572,;CYB5R1,non_coding_transcript_exon_variant,,ENST00000483915,;CYB5R1,downstream_gene_variant,,ENST00000473599,;CYB5R1,downstream_gene_variant,,ENST00000478009,; - ENSG00000159348 ENST00000367249 Transcript frameshift_variant 815/1651 740/918 247/305 P/X cCa/ca 1 -1 CYB5R1 HGNC HGNC:13397 protein_coding YES CCDS1431.1 ENSP00000356218 Q9UHQ9 UPI0000037787 NM_016243.2 8/9 Gene3D:3.40.50.80,Pfam_domain:PF00175,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF74,Superfamily_domains:SSF52343,cd06183 HIGH 1 deletion 1 PASS TTGG . . 202963070 RPS6KC1 . GRCh38 chr1 213242281 213242281 + Missense_Mutation SNP C C G novel 7316-1790 BS_W75GCHPW C C c.2805C>G p.Ile935Met p.I935M ENST00000366960 11/15 122 114 6 37 36 0 RPS6KC1,missense_variant,p.Ile935Met,ENST00000366960,NM_012424.4,NM_001349648.1,NM_001349649.1;RPS6KC1,missense_variant,p.Ile923Met,ENST00000366959,NM_001136138.2,NM_001349648.1,NM_001349649.1;RPS6KC1,missense_variant,p.Ile723Met,ENST00000543470,NM_001287219.1;RPS6KC1,missense_variant,p.Ile723Met,ENST00000614059,NM_001287218.1;RPS6KC1,missense_variant,p.Ile754Met,ENST00000543354,NM_001287221.1;RPS6KC1,missense_variant,p.Ile470Met,ENST00000615329,NM_001287220.1;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000490299,;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000491616,; G ENSG00000136643 ENST00000366960 Transcript missense_variant 2955/5490 2805/3201 935/1066 I/M atC/atG 1 1 RPS6KC1 HGNC HGNC:10439 protein_coding YES CCDS1513.1 ENSP00000355927 Q96S38 UPI0000071B8C NM_012424.4,NM_001349648.1,NM_001349649.1 deleterious(0) probably_damaging(1) 11/15 PROSITE_profiles:PS50011,cd05576,hmmpanther:PTHR15508:SF2,hmmpanther:PTHR15508,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 PASS TCT . . 213242281 RAD51AP2 . GRCh38 chr2 17515932 17515932 + Missense_Mutation SNP T T A novel 7316-1790 BS_W75GCHPW T T c.2484A>T p.Lys828Asn p.K828N ENST00000399080 1/3 112 72 38 40 40 0 RAD51AP2,missense_variant,p.Lys828Asn,ENST00000399080,NM_001099218.2,NM_001321233.1; A ENSG00000214842 ENST00000399080 Transcript missense_variant 2508/3724 2484/3480 828/1159 K/N aaA/aaT 1 -1 RAD51AP2 HGNC HGNC:34417 protein_coding YES CCDS42656.1 ENSP00000382030 Q09MP3 UPI0000418FD4 NM_001099218.2,NM_001321233.1 tolerated(0.2) benign(0.005) 1/3 hmmpanther:PTHR15361:SF6,hmmpanther:PTHR15361 MODERATE 1 SNV 1 PASS ATT . . 17515932 OTOF . GRCh38 chr2 26527919 26527919 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.140C>T p.Thr47Ile p.T47I ENST00000272371 3/47 78 65 12 39 39 0 OTOF,missense_variant,p.Thr47Ile,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Thr47Ile,ENST00000403946,NM_001287489.1; A ENSG00000115155 ENST00000272371 Transcript missense_variant,splice_region_variant 267/7156 140/5994 47/1997 T/I aCa/aTa 1 -1 OTOF HGNC HGNC:8515 protein_coding YES CCDS1725.1 ENSP00000272371 Q9HC10 UPI000013D94D NM_194248.2 tolerated(0.27) benign(0.003) 3/47 Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,SMART_domains:SM00239,Superfamily_domains:SSF49562,cd08373 MODERATE 1 SNV 1 1 PASS TGT . . 26527919 GFPT1 . GRCh38 chr2 69329720 69329720 + Missense_Mutation SNP G G A rs1421146245 7316-1790 BS_W75GCHPW G G c.1561C>T p.Arg521Cys p.R521C ENST00000357308 16/20 98 78 17 44 43 0 GFPT1,missense_variant,p.Arg521Cys,ENST00000357308,NM_001244710.1;GFPT1,missense_variant,p.Arg503Cys,ENST00000361060,NM_002056.3;RF00019,upstream_gene_variant,,ENST00000516441,; A ENSG00000198380 ENST00000357308 Transcript missense_variant 1744/8703 1561/2100 521/699 R/C Cgc/Tgc rs1421146245 1 -1 GFPT1 HGNC HGNC:4241 protein_coding YES CCDS58713.1 ENSP00000349860 Q06210 UPI000015C8AD NM_001244710.1 deleterious(0.02) probably_damaging(0.986) 16/20 Gene3D:3.40.50.10490,hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF2,Superfamily_domains:SSF53697,TIGRFAM_domain:TIGR01135 MODERATE 1 SNV 5 1 PASS CGT . . 4.063e-06 2.978e-05 69329720 RGPD3 . GRCh38 chr2 106424116 106424116 + Missense_Mutation SNP T C C rs2557900 7316-1790 BS_W75GCHPW T T c.3851A>G p.His1284Arg p.H1284R ENST00000409886 20/23 60 0 57 34 29 4 RGPD3,missense_variant,p.His1284Arg,ENST00000409886,NM_001144013.1;RGPD3,missense_variant,p.His1278Arg,ENST00000304514,;,regulatory_region_variant,,ENSR00000121291,; C ENSG00000153165 ENST00000409886 Transcript missense_variant 3939/5594 3851/5277 1284/1758 H/R cAc/cGc rs2557900,COSM1481814,COSM1481813 1 -1 RGPD3 HGNC HGNC:32416 protein_coding YES CCDS46379.1 ENSP00000386588 A6NKT7 UPI00006C049F NM_001144013.1 tolerated(1) benign(0) 20/23 hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF87 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS GTG . . 0.06744 0.08369 0.1067 0.03589 0.3302 0.01063 0.03684 0.07132 0.05964 106424116 DPP10 . GRCh38 chr2 115309268 115309268 + Missense_Mutation SNP A A T novel 7316-1790 BS_W75GCHPW A A c.102A>T p.Arg34Ser p.R34S ENST00000393147 2/26 104 86 15 37 37 0 DPP10,missense_variant,p.Arg30Ser,ENST00000410059,NM_020868.4,NM_001321907.1;DPP10,missense_variant,p.Arg23Ser,ENST00000310323,NM_001321909.1,NM_001004360.3,NM_001321906.1;DPP10,missense_variant,p.Arg34Ser,ENST00000393147,NM_001178034.1;DPP10,missense_variant,p.Arg26Ser,ENST00000393146,;DPP10,5_prime_UTR_variant,,ENST00000409163,NM_001321914.1,NM_001178037.1,NM_001321911.1,NM_001321905.1,NM_001178036.1,NM_001321912.1,NM_001321908.1,NM_001321910.1,NM_001321913.1;DPP10,5_prime_UTR_variant,,ENST00000436732,;DPP10,5_prime_UTR_variant,,ENST00000419287,;DPP10,non_coding_transcript_exon_variant,,ENST00000461250,;DPP10,non_coding_transcript_exon_variant,,ENST00000486885,;DPP10,intron_variant,,ENST00000429914,; T ENSG00000175497 ENST00000393147 Transcript missense_variant 457/2758 102/2403 34/800 R/S agA/agT 1 1 DPP10 HGNC HGNC:20823 protein_coding YES CCDS54388.1 ENSP00000376855 Q8N608 UPI00015E0A22 NM_001178034.1 deleterious(0) probably_damaging(0.969) 2/26 hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731 MODERATE 1 SNV 1 PASS GAA . . 115309268 AC079163.1 . GRCh38 chr2 145603150 145603151 + Splice_Region INS - - A novel 7316-1790 BS_W75GCHPW - - n.188dup ENST00000418416 2/3 87 77 6 33 30 0 AC079163.1,splice_region_variant,,ENST00000418416,; A ENSG00000226218 ENST00000418416 Transcript splice_region_variant,non_coding_transcript_exon_variant 188-189/407 1 -1 AC079163.1 Clone_based_ensembl_gene lincRNA YES 2/3 LOW 1 insertion 2 PASS TCA . . 145603150 NEB . GRCh38 chr2 151627118 151627118 + Missense_Mutation SNP C C T rs727504034 7316-1790 BS_W75GCHPW C C c.10231G>A p.Ala3411Thr p.A3411T ENST00000618972 70/183 82 62 18 40 39 0 NEB,missense_variant,p.Ala3411Thr,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Ala3411Thr,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Ala3411Thr,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Ala3411Thr,ENST00000603639,;NEB,missense_variant,p.Ala3411Thr,ENST00000604864,;NEB,missense_variant,p.Ala3168Thr,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Ala3168Thr,ENST00000172853,; T ENSG00000183091 ENST00000618972 Transcript missense_variant 10434/26307 10231/25683 3411/8560 A/T Gct/Act rs727504034 1 -1 NEB HGNC HGNC:7720 protein_coding YES CCDS74588.1 ENSP00000484342 A0A087X1N7 UPI0004E4CCB0 NM_001271208.1 tolerated(0.96) benign(0.001) 70/183 PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227 uncertain_significance MODERATE 1 SNV 5 1 PASS GCA . . 2.844e-05 6.542e-05 2.978e-05 4.484e-05 3.582e-05 151627118 TTC21B . GRCh38 chr2 165874808 165874808 + Missense_Mutation SNP G G T novel 7316-1790 BS_W75GCHPW G G c.3898C>A p.Pro1300Thr p.P1300T ENST00000243344 29/29 93 67 25 47 47 0 TTC21B,missense_variant,p.Pro1300Thr,ENST00000243344,NM_024753.4;TTC21B,upstream_gene_variant,,ENST00000489714,;TTC21B,downstream_gene_variant,,ENST00000497425,;TTC21B,missense_variant,p.Pro267Thr,ENST00000392695,;TTC21B,upstream_gene_variant,,ENST00000486672,; T ENSG00000123607 ENST00000243344 Transcript missense_variant 4036/5482 3898/3951 1300/1316 P/T Cca/Aca 1 -1 TTC21B HGNC HGNC:25660 protein_coding YES CCDS33315.1 ENSP00000243344 Q7Z4L5 UPI000020900A NM_024753.4 deleterious(0) probably_damaging(1) 29/29 hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF1,Gene3D:1.25.40.10,Superfamily_domains:SSF48452 MODERATE 1 SNV 1 1 PASS GGA . . 165874808 SCN1A . GRCh38 chr2 166045227 166045227 + Missense_Mutation SNP C C G novel 7316-1790 BS_W75GCHPW C C c.1478G>C p.Ser493Thr p.S493T ENST00000303395 12/28 94 74 18 41 40 0 SCN1A,missense_variant,p.Ser492Thr,ENST00000641575,;SCN1A,missense_variant,p.Ser493Thr,ENST00000641603,;SCN1A,missense_variant,p.Ser493Thr,ENST00000635776,;SCN1A,missense_variant,p.Ser493Thr,ENST00000637988,NM_001353951.1,NM_001353950.1;SCN1A,missense_variant,p.Ser493Thr,ENST00000303395,NM_001165963.1,NM_001202435.1;SCN1A,missense_variant,p.Ser493Thr,ENST00000635750,NM_001353949.1;SCN1A,missense_variant,p.Ser493Thr,ENST00000423058,;SCN1A,missense_variant,p.Ser493Thr,ENST00000640036,;SCN1A,missense_variant,p.Ser493Thr,ENST00000375405,NM_006920.4;SCN1A,missense_variant,p.Ser493Thr,ENST00000409050,NM_001165964.1;AC010127.1,intron_variant,,ENST00000595268,;AC010127.1,intron_variant,,ENST00000595647,;AC010127.1,intron_variant,,ENST00000599041,;AC010127.1,intron_variant,,ENST00000627027,;AC010127.1,intron_variant,,ENST00000628933,;AC010127.1,intron_variant,,ENST00000629609,;AC010127.1,intron_variant,,ENST00000630226,;SCN1A,missense_variant,p.Ser493Thr,ENST00000636194,NM_001353952.1,NM_001353954.1,NM_001353961.1;SCN1A,3_prime_UTR_variant,,ENST00000641996,;SCN1A,3_prime_UTR_variant,,ENST00000636759,;SCN1A,non_coding_transcript_exon_variant,,ENST00000637968,; G ENSG00000144285 ENST00000303395 Transcript missense_variant 1896/8533 1478/6030 493/2009 S/T aGt/aCt 1 -1 SCN1A HGNC HGNC:10585 protein_coding YES CCDS54413.1 ENSP00000303540 P35498 UPI000003C71D NM_001165963.1,NM_001202435.1 tolerated(0.14) probably_damaging(0.992) 12/28 hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF280,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ACT . . 166045227 GPR155 . GRCh38 chr2 174459962 174459962 + Missense_Mutation SNP C C G rs748395061 7316-1790 BS_W75GCHPW C C c.1687G>C p.Val563Leu p.V563L ENST00000392552 10/16 94 85 9 34 34 0 GPR155,missense_variant,p.Val535Leu,ENST00000614352,NM_001267051.1;GPR155,missense_variant,p.Val563Leu,ENST00000392552,NM_152529.6;GPR155,missense_variant,p.Val563Leu,ENST00000392551,NM_001267050.1;GPR155,missense_variant,p.Val563Leu,ENST00000295500,NM_001033045.3; G ENSG00000163328 ENST00000392552 Transcript missense_variant 1926/6730 1687/2613 563/870 V/L Gtg/Ctg rs748395061 1 -1 GPR155 HGNC HGNC:22951 protein_coding YES CCDS2259.1 ENSP00000376335 Q7Z3F1 UPI000013E262 NM_152529.6 tolerated(0.74) benign(0.003) 10/16 hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF27,Gene3D:1.20.1070.10 MODERATE 1 SNV 1 PASS ACC . . 4.061e-06 2.978e-05 174459962 FSIP2 . GRCh38 chr2 185803866 185803866 + Missense_Mutation SNP A A G novel 7316-1790 BS_W75GCHPW A A c.14560A>G p.Met4854Val p.M4854V ENST00000424728 17/23 95 63 30 38 38 0 FSIP2,missense_variant,p.Met4854Val,ENST00000424728,NM_173651.3;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2,intron_variant,,ENST00000415915,; G ENSG00000188738 ENST00000424728 Transcript missense_variant 14560/20788 14560/20724 4854/6907 M/V Atg/Gtg 1 1 FSIP2 HGNC HGNC:21675 protein_coding YES CCDS54426.2 ENSP00000401306 Q5CZC0 UPI000198D023 NM_173651.3 benign(0.045) 17/23 Pfam_domain:PF15783,hmmpanther:PTHR21856 MODERATE SNV 5 PASS TAT . . 185803866 PARD3B . GRCh38 chr2 205300620 205300620 + Missense_Mutation SNP A A T novel 7316-1790 BS_W75GCHPW A A c.2276A>T p.Lys759Met p.K759M ENST00000406610 17/23 82 60 17 42 42 0 PARD3B,missense_variant,p.Lys759Met,ENST00000406610,NM_001302769.1;PARD3B,missense_variant,p.Lys623Met,ENST00000613457,;PARD3B,missense_variant,p.Lys685Met,ENST00000622699,;PARD3B,missense_variant,p.Lys697Met,ENST00000358768,NM_152526.5;PARD3B,missense_variant,p.Lys759Met,ENST00000349953,NM_205863.3;PARD3B,missense_variant,p.Lys759Met,ENST00000462231,;PARD3B,intron_variant,,ENST00000351153,NM_057177.6;PARD3B,intron_variant,,ENST00000614500,;PARD3B,non_coding_transcript_exon_variant,,ENST00000465890,; T ENSG00000116117 ENST00000406610 Transcript missense_variant 2483/8174 2276/3618 759/1205 K/M aAg/aTg 1 1 PARD3B HGNC HGNC:14446 protein_coding YES CCDS77511.1 ENSP00000385848 Q8TEW8 UPI0000070178 NM_001302769.1 deleterious(0.02) probably_damaging(0.998) 17/23 hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF4 MODERATE 1 SNV 1 PASS AAG . . 205300620 SLC4A3 . GRCh38 chr2 219632431 219632431 + Missense_Mutation SNP C C T rs1443730508 7316-1790 BS_W75GCHPW C C c.1211C>T p.Thr404Ile p.T404I ENST00000273063 8/23 77 56 19 33 33 0 SLC4A3,missense_variant,p.Thr377Ile,ENST00000358055,NM_005070.3;SLC4A3,missense_variant,p.Thr404Ile,ENST00000273063,NM_201574.2,NM_001326559.1;SLC4A3,missense_variant,p.Thr377Ile,ENST00000373760,;SLC4A3,missense_variant,p.Thr377Ile,ENST00000317151,;SLC4A3,missense_variant,p.Thr179Ile,ENST00000413743,;SLC4A3,downstream_gene_variant,,ENST00000497589,;SLC4A3,missense_variant,p.Thr377Ile,ENST00000425141,;SLC4A3,missense_variant,p.Thr77Ile,ENST00000416910,;SLC4A3,upstream_gene_variant,,ENST00000444906,; T ENSG00000114923 ENST00000273063 Transcript missense_variant 1425/4246 1211/3780 404/1259 T/I aCc/aTc rs1443730508 1 1 SLC4A3 HGNC HGNC:11029 protein_coding YES CCDS2446.1 ENSP00000273063 P48751 UPI000022BE50 NM_201574.2,NM_001326559.1 deleterious(0.02) possibly_damaging(0.586) 8/23 Gene3D:3.40.930.10,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834 MODERATE 1 SNV 1 PASS ACC . . 219632431 CROCC2 . GRCh38 chr2 240946143 240946143 + Missense_Mutation SNP A A T novel 7316-1790 BS_W75GCHPW A A c.2253A>T p.Gln751His p.Q751H ENST00000443866 15/32 62 44 16 30 30 0 CROCC2,missense_variant,p.Gln751His,ENST00000443866,NM_001351305.1;CROCC2,upstream_gene_variant,,ENST00000480779,; T ENSG00000226321 ENST00000443866 Transcript missense_variant 2437/5382 2253/4968 751/1655 Q/H caA/caT 1 1 CROCC2 HGNC HGNC:51677 protein_coding YES ENSP00000397968 H7BZ55 UPI0004F2364A NM_001351305.1 deleterious(0.02) possibly_damaging(0.852) 15/32 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF16,hmmpanther:PTHR23159 MODERATE 1 SNV 5 PASS AAG . . 240946143 CMTM7 . GRCh38 chr3 32441865 32441865 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.185G>A p.Cys62Tyr p.C62Y ENST00000334983 2/5 62 35 24 40 40 0 CMTM7,missense_variant,p.Cys62Tyr,ENST00000334983,NM_138410.3;CMTM7,missense_variant,p.Cys62Tyr,ENST00000349718,NM_181472.2;CMTM7,missense_variant,p.Cys18Tyr,ENST00000465248,;CMTM7,missense_variant,p.Cys62Tyr,ENST00000454304,; A ENSG00000153551 ENST00000334983 Transcript missense_variant 421/2038 185/528 62/175 C/Y tGt/tAt 1 1 CMTM7 HGNC HGNC:19178 protein_coding YES CCDS33730.1 ENSP00000335605 Q96FZ5 A0A024R2L3 UPI00000343F1 NM_138410.3 deleterious(0) probably_damaging(0.99) 2/5 Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR22776:SF31,hmmpanther:PTHR22776,Pfam_domain:PF01284 MODERATE 1 SNV 1 PASS TGT . . 32441865 CADPS . GRCh38 chr3 62645735 62645735 + Missense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.1312G>A p.Ala438Thr p.A438T ENST00000383710 6/30 54 37 16 46 46 0 CADPS,missense_variant,p.Ala438Thr,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Ala438Thr,ENST00000612439,;CADPS,missense_variant,p.Ala438Thr,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Ala438Thr,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Ala438Thr,ENST00000490353,; T ENSG00000163618 ENST00000383710 Transcript missense_variant 1662/5471 1312/4062 438/1353 A/T Gct/Act 1 -1 CADPS HGNC HGNC:1426 protein_coding YES CCDS46858.1 ENSP00000373215 Q9ULU8 UPI00001C036A NM_003716.3 deleterious(0) benign(0.398) 6/30 Gene3D:2.60.40.150,hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF6 MODERATE 1 SNV 1 PASS GCC . . 62645735 FRG2C . GRCh38 chr3 75664829 75664829 + Missense_Mutation SNP T T G rs78097733 7316-1790 BS_W75GCHPW T T c.189T>G p.Asp63Glu p.D63E ENST00000308062 2/4 54 45 8 53 53 0 FRG2C,missense_variant,p.Asp63Glu,ENST00000308062,NM_001124759.1;FRG2C,missense_variant,p.Asp62Glu,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;,regulatory_region_variant,,ENSR00000304725,;DUX4L26,upstream_gene_variant,,ENST00000489078,; G ENSG00000172969 ENST00000308062 Transcript missense_variant 239/2078 189/849 63/282 D/E gaT/gaG rs78097733,COSM4158329 1 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1 UPI0000160BC9 NM_001124759.1 tolerated(1) benign(0) 2/4 mobidb-lite,hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF4,Pfam_domain:PF15315 0,1 MODERATE 1 SNV 1 0,1 PASS ATC . . 75664829 ZNF717 . GRCh38 chr3 75738643 75738643 + Missense_Mutation SNP A A G rs75467043 7316-1790 BS_W75GCHPW A A c.830T>C p.Ile277Thr p.I277T ENST00000478296 4/4 81 52 25 50 46 3 ZNF717,missense_variant,p.Ile277Thr,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; G ENSG00000227124 ENST00000478296 Transcript missense_variant 1107/3875 830/2595 277/864 I/T aTt/aCt rs75467043,COSM4594404,COSM4594403 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS AAT . . 0.006236 0.004339 0.01056 0.002688 0.006369 0.000977 0.006241 0.01005 0.007068 75738643 CSNKA2IP . GRCh38 chr3 88467053 88467053 + Missense_Mutation SNP G G T novel 7316-1790 BS_W75GCHPW G G c.1696G>T p.Asp566Tyr p.D566Y ENST00000637986 2/2 55 37 17 39 37 0 CSNKA2IP,missense_variant,p.Asp566Tyr,ENST00000637986,;CSNKA2IP,downstream_gene_variant,,ENST00000635844,;CSNKA2IP,downstream_gene_variant,,ENST00000636323,;CSNKA2IP,downstream_gene_variant,,ENST00000638109,; T ENSG00000283434 ENST00000637986 Transcript missense_variant 2197/2706 1696/2205 566/734 D/Y Gat/Tat 1 1 CSNKA2IP HGNC HGNC:53637 protein_coding YES ENSP00000489704 A0A1B0GTH6 UPI0005D01EE5 deleterious_low_confidence(0.01) probably_damaging(0.915) 2/2 MODERATE 1 SNV 4 PASS GGA . . 88467053 ZBTB11 . GRCh38 chr3 101665367 101665367 + Missense_Mutation SNP G G T 7316-1790 BS_W75GCHPW G G c.1220C>A p.Pro407His p.P407H ENST00000312938 4/11 69 60 6 47 47 0 ZBTB11,missense_variant,p.Pro407His,ENST00000312938,NM_014415.3;RNY1P12,upstream_gene_variant,,ENST00000364251,; T ENSG00000066422 ENST00000312938 Transcript missense_variant 1801/6020 1220/3162 407/1053 P/H cCt/cAt COSM5694792 1 -1 ZBTB11 HGNC HGNC:16740 protein_coding YES CCDS2943.1 ENSP00000326200 O95625 UPI000013D5E3 NM_014415.3 tolerated_low_confidence(0.07) benign(0.371) 4/11 hmmpanther:PTHR44804 1 MODERATE 1 SNV 1 1 PASS AGG . . 101665367 ZBTB11 . GRCh38 chr3 101665368 101665368 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.1219C>T p.Pro407Ser p.P407S ENST00000312938 4/11 69 60 6 48 47 0 ZBTB11,missense_variant,p.Pro407Ser,ENST00000312938,NM_014415.3;RNY1P12,upstream_gene_variant,,ENST00000364251,; A ENSG00000066422 ENST00000312938 Transcript missense_variant 1800/6020 1219/3162 407/1053 P/S Cct/Tct 1 -1 ZBTB11 HGNC HGNC:16740 protein_coding YES CCDS2943.1 ENSP00000326200 O95625 UPI000013D5E3 NM_014415.3 tolerated_low_confidence(0.55) benign(0) 4/11 hmmpanther:PTHR44804 MODERATE 1 SNV 1 PASS GGA . . 101665368 SEC62 . GRCh38 chr3 169982772 169982772 + Missense_Mutation SNP T T A novel 7316-1790 BS_W75GCHPW T T c.317T>A p.Ile106Lys p.I106K ENST00000337002 4/8 90 79 7 49 48 0 SEC62,missense_variant,p.Ile106Lys,ENST00000337002,NM_003262.3;SEC62,missense_variant,p.Ile106Lys,ENST00000480708,;SEC62-AS1,intron_variant,,ENST00000479626,;SEC62,upstream_gene_variant,,ENST00000470355,;SEC62,3_prime_UTR_variant,,ENST00000469515,;SEC62,3_prime_UTR_variant,,ENST00000460513,;SEC62,3_prime_UTR_variant,,ENST00000487736,;SEC62,non_coding_transcript_exon_variant,,ENST00000481435,;SEC62,non_coding_transcript_exon_variant,,ENST00000497277,;SEC62,upstream_gene_variant,,ENST00000469890,; A ENSG00000008952 ENST00000337002 Transcript missense_variant 375/6568 317/1200 106/399 I/K aTa/aAa 1 1 SEC62 HGNC HGNC:11846 protein_coding YES CCDS3210.1 ENSP00000337688 Q99442 UPI000007186C NM_003262.3 tolerated(0.99) benign(0.026) 4/8 Low_complexity_(Seg):seg,hmmpanther:PTHR12443,Pfam_domain:PF03839,Gene3D:1.10.10.10 MODERATE 1 SNV 1 PASS ATA . . 169982772 AC073365.1 . GRCh38 chr3 191539288 191539288 + Splice_Region SNP C C T rs1234792324 7316-1790 BS_W75GCHPW C C n.172-6C>T ENST00000642133 47 33 7 47 39 0 AC073365.1,splice_region_variant,,ENST00000642133,;AC073365.1,intron_variant,,ENST00000641055,;AC073365.1,intron_variant,,ENST00000641158,; T ENSG00000223812 ENST00000642133 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1234792324 1 1 AC073365.1 Clone_based_ensembl_gene lincRNA YES 3/9 LOW 1 SNV PASS TCC . . 191539288 SDHAP1 . GRCh38 chr3 195990190 195990190 + Splice_Region SNP C C A rs2638941 7316-1790 BS_W75GCHPW C C n.90G>T ENST00000427841 1/17 149 110 34 79 74 3 SDHAP1,splice_region_variant,,ENST00000427841,;SDHAP1,splice_region_variant,,ENST00000413474,;SDHAP1,splice_region_variant,,ENST00000435731,;SDHAP1,splice_region_variant,,ENST00000427415,;,regulatory_region_variant,,ENSR00000164335,;SDHAP1,splice_region_variant,,ENST00000440850,; A ENSG00000185485 ENST00000427841 Transcript splice_region_variant,non_coding_transcript_exon_variant 90/2491 rs2638941 1 -1 SDHAP1 HGNC HGNC:32455 processed_transcript YES 1/17 LOW 1 SNV 2 PASS CCG . . 195990190 TAPT1 . GRCh38 chr4 16226369 16226369 + Missense_Mutation SNP T T C novel 7316-1790 BS_W75GCHPW T T c.89A>G p.Glu30Gly p.E30G ENST00000405303 1/14 34 26 7 47 46 0 TAPT1,missense_variant,p.Glu30Gly,ENST00000405303,NM_153365.2;TAPT1-AS1,upstream_gene_variant,,ENST00000570786,;TAPT1-AS1,upstream_gene_variant,,ENST00000573308,;TAPT1-AS1,upstream_gene_variant,,ENST00000573950,;TAPT1,intron_variant,,ENST00000513359,;TAPT1,upstream_gene_variant,,ENST00000510868,;TAPT1,upstream_gene_variant,,ENST00000511156,;TAPT1,missense_variant,p.Glu30Gly,ENST00000505603,;TAPT1,non_coding_transcript_exon_variant,,ENST00000505317,;,regulatory_region_variant,,ENSR00000166286,; C ENSG00000169762 ENST00000405303 Transcript missense_variant 173/4591 89/1704 30/567 E/G gAg/gGg 1 -1 TAPT1 HGNC HGNC:26887 protein_coding YES CCDS47030.1 ENSP00000385347 Q6NXT6 UPI0000253B29 NM_153365.2 tolerated_low_confidence(0.28) benign(0.003) 1/14 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTC . . 16226369 KLHL5 . GRCh38 chr4 39115259 39115259 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.2140G>A p.Gly714Arg p.G714R ENST00000504108 10/11 52 32 19 36 36 0 KLHL5,missense_variant,p.Gly668Arg,ENST00000261425,NM_001007075.2;KLHL5,missense_variant,p.Gly653Arg,ENST00000261426,NM_199039.3;KLHL5,missense_variant,p.Gly714Arg,ENST00000381930,;KLHL5,missense_variant,p.Gly527Arg,ENST00000508137,NM_001171654.1;KLHL5,missense_variant,p.Gly714Arg,ENST00000504108,NM_015990.4;KLHL5,missense_variant,p.Gly226Arg,ENST00000515612,;AC079921.1,intron_variant,,ENST00000509449,; A ENSG00000109790 ENST00000504108 Transcript missense_variant 2423/2690 2140/2268 714/755 G/R Ggg/Agg 1 1 KLHL5 HGNC HGNC:6356 protein_coding YES CCDS33974.1 ENSP00000423897 Q96PQ7 UPI000013D185 NM_015990.4 deleterious(0) probably_damaging(1) 10/11 Gene3D:2.120.10.80,Pfam_domain:PF01344,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF135,SMART_domains:SM00612,Superfamily_domains:SSF117281 MODERATE 1 SNV 2 PASS TGG . . 39115259 N4BP2 . GRCh38 chr4 40103208 40103208 + Missense_Mutation SNP T T G novel 7316-1790 BS_W75GCHPW T T c.1363T>G p.Phe455Val p.F455V ENST00000261435 4/18 51 33 17 35 34 1 N4BP2,missense_variant,p.Phe455Val,ENST00000261435,NM_018177.5,NM_001318359.1;N4BP2,missense_variant,p.Phe102Val,ENST00000513269,;N4BP2,downstream_gene_variant,,ENST00000515550,;N4BP2,3_prime_UTR_variant,,ENST00000511480,; G ENSG00000078177 ENST00000261435 Transcript missense_variant 1779/9744 1363/5313 455/1770 F/V Ttt/Gtt 1 1 N4BP2 HGNC HGNC:29851 protein_coding YES CCDS3457.1 ENSP00000261435 Q86UW6 UPI00001A962C NM_018177.5,NM_001318359.1 deleterious(0.02) possibly_damaging(0.796) 4/18 hmmpanther:PTHR13308:SF21,hmmpanther:PTHR13308,Gene3D:3.40.50.300,Pfam_domain:PF13671,Superfamily_domains:SSF52540 MODERATE 1 SNV 5 1 PASS TTT . . 40103208 APBB2 . GRCh38 chr4 41142989 41142989 + Splice_Region SNP G G A novel 7316-1790 BS_W75GCHPW G G c.-263C>T ENST00000508593 2/18 57 28 25 39 38 0 APBB2,splice_region_variant,,ENST00000295974,NM_001166050.1;APBB2,splice_region_variant,,ENST00000513140,NM_173075.4;APBB2,splice_region_variant,,ENST00000508593,NM_004307.1;APBB2,splice_region_variant,,ENST00000506352,;APBB2,splice_region_variant,,ENST00000509446,;APBB2,splice_region_variant,,ENST00000508707,;APBB2,splice_region_variant,,ENST00000508676,;APBB2,splice_region_variant,,ENST00000503503,;APBB2,splice_region_variant,,ENST00000503264,;APBB2,splice_region_variant,,ENST00000511572,;APBB2,splice_region_variant,,ENST00000506999,;APBB2,splice_region_variant,,ENST00000503555,;APBB2,splice_region_variant,,ENST00000502682,;,regulatory_region_variant,,ENSR00000167836,; A ENSG00000163697 ENST00000508593 Transcript splice_region_variant,5_prime_UTR_variant 282/3592 1 -1 APBB2 HGNC HGNC:582 protein_coding YES CCDS54762.1 ENSP00000427211 Q92870 UPI0001B8E1D4 NM_004307.1 2/18 LOW 1 SNV 1 1 PASS TGA . . 41142989 SMAD1 . GRCh38 chr4 145553793 145553807 + In_Frame_Del DEL TTTATTATGTTGGAG TTTATTATGTTGGAG - novel 7316-1790 BS_W75GCHPW TTTATTATGTTGGAG TTTATTATGTTGGAG c.1007_1021del p.Leu336_Gly341delinsArg p.L336_G341delinsR ENST00000515385 6/7 50 35 15 56 56 0 SMAD1,inframe_deletion,p.Leu336_Gly341delinsArg,ENST00000515385,;SMAD1,inframe_deletion,p.Leu336_Gly341delinsArg,ENST00000302085,NM_005900.2;SMAD1,inframe_deletion,p.Leu336_Gly341delinsArg,ENST00000394092,NM_001003688.1;SMAD1,non_coding_transcript_exon_variant,,ENST00000510948,;SMAD1,non_coding_transcript_exon_variant,,ENST00000511125,;SMAD1,non_coding_transcript_exon_variant,,ENST00000511255,; - ENSG00000170365 ENST00000515385 Transcript inframe_deletion 1549-1563/2085 1007-1021/1398 336-341/465 LYYVGG/R cTTTATTATGTTGGAGgg/cgg 1 1 SMAD1 HGNC HGNC:6767 protein_coding YES CCDS3765.1 ENSP00000426568 Q15797 UPI0000135A76 6/7 PROSITE_profiles:PS51076,cd10497,hmmpanther:PTHR13703:SF23,hmmpanther:PTHR13703,Pfam_domain:PF03166,Gene3D:2.60.200.10,SMART_domains:SM00524,Superfamily_domains:SSF49879 MODERATE 1 deletion 2 PASS TCTTTATTATGTTGGAGG . . 145553792 NREP . GRCh38 chr5 111975362 111975362 + Missense_Mutation SNP T T A novel 7316-1790 BS_W75GCHPW T T c.47A>T p.Glu16Val p.E16V ENST00000395634 2/4 35 15 18 46 46 0 NREP,missense_variant,p.Glu16Val,ENST00000395634,NM_001142475.1,NM_001142474.1;NREP,intron_variant,,ENST00000450761,;NREP-AS1,intron_variant,,ENST00000503242,;NREP-AS1,intron_variant,,ENST00000507222,;,regulatory_region_variant,,ENSR00000185272,; A ENSG00000134986 ENST00000395634 Transcript missense_variant 239/1468 47/339 16/112 E/V gAa/gTa 1 -1 NREP HGNC HGNC:16834 protein_coding YES CCDS47255.1 ENSP00000378996 Q16612 UPI000187F6BB NM_001142475.1,NM_001142474.1 deleterious_low_confidence(0) benign(0.038) 2/4 mobidb-lite MODERATE 1 SNV 2 PASS TTC . . 111975362 HTR4 . GRCh38 chr5 148665485 148665485 + Splice_Site SNP C C T rs1334877992 7316-1790 BS_W75GCHPW C C c.134+1G>A p.X45_splice ENST00000520086 69 47 21 36 36 0 HTR4,splice_donor_variant,,ENST00000520086,;HTR4,splice_donor_variant,,ENST00000519495,; T ENSG00000164270 ENST00000520086 Transcript splice_donor_variant rs1334877992 1 -1 HTR4 HGNC HGNC:5299 protein_coding ENSP00000429634 E5RHV8 UPI0001E8F739 1/3 HIGH 1 SNV 2 PASS ACC . . 1.624e-05 8.936e-05 148665485 ATP10B . GRCh38 chr5 160620649 160620657 + In_Frame_Del DEL GCCTCCAAT GCCTCCAAT - novel 7316-1790 BS_W75GCHPW GCCTCCAAT GCCTCCAAT c.2106_2114del p.Leu703_Ala705del p.L703_A705del ENST00000327245 15/26 51 31 15 37 36 0 ATP10B,inframe_deletion,p.Leu703_Ala705del,ENST00000327245,NM_025153.2;ATP10B,inframe_deletion,p.Leu675_Ala677del,ENST00000642502,;ATP10B,inframe_deletion,p.Leu311_Ala313del,ENST00000520108,;AC008456.1,intron_variant,,ENST00000523598,; - ENSG00000118322 ENST00000327245 Transcript inframe_deletion 2953-2961/7566 2106-2114/4386 702-705/1461 ALEA/A gcATTGGAGGCc/gcc 1 -1 ATP10B HGNC HGNC:13543 protein_coding YES CCDS43394.1 ENSP00000313600 O94823 UPI0000191DAE NM_025153.2 15/26 Gene3D:3.40.1110.10,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF79,SFLDF00027,SFLDG00002,cd02073 MODERATE 1 deletion 1 PASS GGGCCTCCAATG . . 160620648 HLA-DQA2 . GRCh38 chr6 32745848 32745848 + Missense_Mutation SNP C C T rs116163401 7316-1790 BS_W75GCHPW C C c.389C>T p.Thr130Ile p.T130I ENST00000374940 3/5 76 62 11 43 42 0 HLA-DQA2,missense_variant,p.Thr130Ile,ENST00000374940,NM_020056.4;MIR3135B,downstream_gene_variant,,ENST00000581098,; T ENSG00000237541 ENST00000374940 Transcript missense_variant 491/1524 389/768 130/255 T/I aCc/aTc rs116163401,COSM4596651 1 1 HLA-DQA2 HGNC HGNC:4943 protein_coding YES CCDS4753.1 ENSP00000364076 P01906 Q76NI6 UPI0000001086 NM_020056.4 tolerated(0.94) benign(0.219) 3/5 Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF54,SMART_domains:SM00407,Superfamily_domains:SSF48726,cd05767 0,1 MODERATE 1 SNV 0,1 1 PASS ACC . . 0.0007316 0.0005946 0.0004568 0.0006072 0.001463 0.0008966 0.0002062 0.0005283 32745848 SYNGAP1 . GRCh38 chr6 33425823 33425823 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.215G>A p.Arg72Gln p.R72Q ENST00000629380 3/19 45 24 20 34 34 0 SYNGAP1,missense_variant,p.Arg72Gln,ENST00000629380,;SYNGAP1,missense_variant,p.Arg72Gln,ENST00000646630,NM_006772.2;SYNGAP1,missense_variant,p.Arg72Gln,ENST00000418600,;SYNGAP1,missense_variant,p.Arg72Gln,ENST00000628646,;SYNGAP1,missense_variant,p.Arg72Gln,ENST00000644458,;SYNGAP1,missense_variant,p.Arg72Gln,ENST00000449372,;SYNGAP1,upstream_gene_variant,,ENST00000636905,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000635885,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000636075,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000637052,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000637587,;SYNGAP1,downstream_gene_variant,,ENST00000636116,;SYNGAP1,downstream_gene_variant,,ENST00000636443,;SYNGAP1,upstream_gene_variant,,ENST00000636731,;SYNGAP1,downstream_gene_variant,,ENST00000637194,;SYNGAP1,downstream_gene_variant,,ENST00000637490,;SYNGAP1,upstream_gene_variant,,ENST00000637721,;SYNGAP1,downstream_gene_variant,,ENST00000637911,;SYNGAP1,upstream_gene_variant,,ENST00000638127,;SYNGAP1,missense_variant,p.Arg57Gln,ENST00000293748,;SYNGAP1,missense_variant,p.Arg72Gln,ENST00000638142,;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000479510,;,regulatory_region_variant,,ENSR00000320343,; A ENSG00000197283 ENST00000629380 Transcript missense_variant 410/9862 215/4032 72/1343 R/Q cGg/cAg 1 1 SYNGAP1 HGNC HGNC:11497 protein_coding YES CCDS34434.2 ENSP00000486463 Q96PV0 A0A1U9X8L0 UPI0000470C44 tolerated(0.25) benign(0.238) 3/19 Gene3D:2.30.29.30,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF25,SMART_domains:SM00233 MODERATE 1 SNV 2 1 PASS CGG . . 33425823 PHF3 . GRCh38 chr6 63713153 63713153 + Nonsense_Mutation SNP G A A novel 7316-1790 BS_W75GCHPW G G c.5565G>A p.Trp1855Ter p.W1855* ENST00000262043 16/16 57 2 52 30 29 0 PHF3,stop_gained,p.Trp1855Ter,ENST00000262043,NM_001290259.1;PHF3,stop_gained,p.Trp1855Ter,ENST00000393387,NM_015153.3;PHF3,intron_variant,,ENST00000505138,;PHF3,downstream_gene_variant,,ENST00000506783,;PHF3,downstream_gene_variant,,ENST00000515594,;PHF3,3_prime_UTR_variant,,ENST00000509876,; A ENSG00000118482 ENST00000262043 Transcript stop_gained 5905/8233 5565/6120 1855/2039 W/* tgG/tgA 1 1 PHF3 HGNC HGNC:8921 protein_coding YES CCDS4966.1 ENSP00000262043 Q92576 UPI000007154D NM_001290259.1 16/16 hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF10 HIGH 1 SNV 5 PASS GGC . . 63713153 COL12A1 . GRCh38 chr6 75152005 75152005 + Nonsense_Mutation SNP G G A 7316-1790 BS_W75GCHPW G G c.3862C>T p.Gln1288Ter p.Q1288* ENST00000322507 20/66 52 35 17 40 40 0 COL12A1,stop_gained,p.Gln1288Ter,ENST00000322507,NM_004370.5;COL12A1,stop_gained,p.Gln99Ter,ENST00000615798,;COL12A1,stop_gained,p.Gln1288Ter,ENST00000483888,;COL12A1,stop_gained,p.Gln1288Ter,ENST00000416123,;COL12A1,stop_gained,p.Gln124Ter,ENST00000345356,NM_080645.2;COL12A1,stop_gained,p.Gln30Ter,ENST00000419671,; A ENSG00000111799 ENST00000322507 Transcript stop_gained 4172/11723 3862/9192 1288/3063 Q/* Cag/Tag COSM484354 1 -1 COL12A1 HGNC HGNC:2188 protein_coding YES CCDS43482.1 ENSP00000325146 Q99715 UPI000045890B NM_004370.5 20/66 PROSITE_profiles:PS50234,cd01482,hmmpanther:PTHR45047:SF2,hmmpanther:PTHR45047,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300 1 HIGH 1 SNV 1 1 1 PASS TGT . . 75152005 SP4 . GRCh38 chr7 21430111 21430111 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.946G>A p.Glu316Lys p.E316K ENST00000222584 3/6 145 50 93 58 58 0 SP4,missense_variant,p.Glu316Lys,ENST00000222584,NM_003112.3,NM_001326543.1,NM_001326542.1;SP4,intron_variant,,ENST00000432066,;SP4,intron_variant,,ENST00000448246,;SP4,downstream_gene_variant,,ENST00000440636,; A ENSG00000105866 ENST00000222584 Transcript missense_variant 1164/6126 946/2355 316/784 E/K Gaa/Aaa 1 1 SP4 HGNC HGNC:11209 protein_coding YES CCDS5373.1 ENSP00000222584 Q02446 UPI000013C807 NM_003112.3,NM_001326543.1,NM_001326542.1 tolerated(0.61) benign(0.023) 3/6 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF17,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AGA . . 21430111 KLHL7 . GRCh38 chr7 23173031 23173031 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.1463G>A p.Gly488Asp p.G488D ENST00000339077 10/11 145 109 36 38 37 0 KLHL7,missense_variant,p.Gly488Asp,ENST00000339077,NM_001031710.2;KLHL7,missense_variant,p.Gly440Asp,ENST00000409689,NM_018846.4;KLHL7,3_prime_UTR_variant,,ENST00000521082,;KLHL7,non_coding_transcript_exon_variant,,ENST00000469845,;KLHL7,downstream_gene_variant,,ENST00000469576,; A ENSG00000122550 ENST00000339077 Transcript missense_variant 1706/5620 1463/1761 488/586 G/D gGt/gAt 1 1 KLHL7 HGNC HGNC:15646 protein_coding YES CCDS34609.1 ENSP00000343273 Q8IXQ5 UPI0000037B12 NM_001031710.2 deleterious(0) probably_damaging(1) 10/11 Gene3D:2.120.10.80,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF216,SMART_domains:SM00612,Superfamily_domains:SSF117281 MODERATE 1 SNV 1 1 PASS GGT . . 23173031 MGAM . GRCh38 chr7 142008691 142008691 + Nonsense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.313C>T p.Gln105Ter p.Q105* ENST00000549489 3/48 173 108 57 52 52 0 MGAM,stop_gained,p.Gln105Ter,ENST00000475668,;MGAM,stop_gained,p.Gln105Ter,ENST00000549489,NM_004668.2;MGAM,stop_gained,p.Gln105Ter,ENST00000620571,;MGAM,stop_gained,p.Gln105Ter,ENST00000465654,;MGAM,stop_gained,p.Gln105Ter,ENST00000497673,; T ENSG00000257335 ENST00000549489 Transcript stop_gained 408/6525 313/5574 105/1857 Q/* Cag/Tag 1 1 MGAM HGNC HGNC:7043 protein_coding YES CCDS47727.1 ENSP00000447378 O43451 UPI000183CB7B NM_004668.2 3/48 PDB-ENSP_mappings:2qly.A,PDB-ENSP_mappings:2qmj.A,PDB-ENSP_mappings:3ctt.A,PDB-ENSP_mappings:3l4t.A,PDB-ENSP_mappings:3l4u.A,PDB-ENSP_mappings:3l4v.A,PDB-ENSP_mappings:3l4w.A,PDB-ENSP_mappings:3l4x.A,PDB-ENSP_mappings:3l4y.A,PDB-ENSP_mappings:3l4z.A,Gene3D:4.10.110.10,Pfam_domain:PF00088,PROSITE_patterns:PS00025,PROSITE_profiles:PS51448,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF63,SMART_domains:SM00018,cd00111 HIGH 1 SNV 1 PASS CCA . . 142008691 TRBV17 . GRCh38 chr7 142602126 142602126 + Missense_Mutation SNP A A G novel 7316-1790 BS_W75GCHPW A A c.110A>G p.Glu37Gly p.E37G ENST00000619103 2/2 167 139 22 32 32 0 TRBV17,missense_variant,p.Glu37Gly,ENST00000619103,;TRBV16,downstream_gene_variant,,ENST00000620773,; G ENSG00000277880 ENST00000619103 Transcript missense_variant 110/344 110/344 37/114 E/G gAg/gGg 1 1 TRBV17 HGNC HGNC:12192 TR_V_gene YES ENSP00000483468 A0A087X0K7 UPI0003F47E4F tolerated(0.23) benign(0.024) 2/2 MODERATE 1 SNV PASS GAG . . 142602126 PRSS3P1 . GRCh38 chr7 142762696 142762696 + Splice_Region SNP G G A rs555702549 7316-1790 BS_W75GCHPW G G n.203G>A ENST00000503996 3/5 134 115 18 36 35 0 PRSS2,intron_variant,,ENST00000632998,;PRSS3P1,splice_region_variant,,ENST00000503996,; A ENSG00000250591 ENST00000503996 Transcript splice_region_variant,non_coding_transcript_exon_variant 203/742 rs555702549 1 1 PRSS3P1 HGNC HGNC:43787 unprocessed_pseudogene YES 3/5 0.0004 0.002 LOW 1 SNV PASS CGC . . 142762696 OR2F1 . GRCh38 chr7 143960098 143960098 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.128G>A p.Cys43Tyr p.C43Y ENST00000624504 1/1 172 156 14 40 38 0 OR2F1,missense_variant,p.Cys43Tyr,ENST00000641412,;OR2F1,missense_variant,p.Cys43Tyr,ENST00000624504,NM_012369.2;OR2F1,intron_variant,,ENST00000470988,;OR2F1,intron_variant,,ENST00000641986,; A ENSG00000213215 ENST00000624504 Transcript missense_variant 172/1089 128/954 43/317 C/Y tGt/tAt 1 1 OR2F1 HGNC HGNC:8246 protein_coding YES ENSP00000485483 Q13607 A0A126GV98 UPI000003FF87 NM_012369.2 tolerated(0.58) benign(0.021) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF116,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15429 MODERATE 1 SNV PASS TGT . . 143960098 SLC4A2 . GRCh38 chr7 151071800 151071800 + Nonsense_Mutation SNP C C G novel 7316-1790 BS_W75GCHPW C C c.2303C>G p.Ser768Ter p.S768* ENST00000485713 15/23 125 95 23 34 30 0 SLC4A2,stop_gained,p.Ser768Ter,ENST00000485713,NM_001199692.1;SLC4A2,stop_gained,p.Ser754Ter,ENST00000461735,NM_001199694.1;SLC4A2,stop_gained,p.Ser768Ter,ENST00000413384,NM_003040.3;SLC4A2,stop_gained,p.Ser759Ter,ENST00000392826,NM_001199693.1;FASTK,downstream_gene_variant,,ENST00000297532,NM_006712.4;FASTK,downstream_gene_variant,,ENST00000353841,NM_033015.3;FASTK,downstream_gene_variant,,ENST00000482571,NM_001258461.1;FASTK,downstream_gene_variant,,ENST00000540185,;AC010973.2,downstream_gene_variant,,ENST00000485974,;SLC4A2,non_coding_transcript_exon_variant,,ENST00000482697,;FASTK,downstream_gene_variant,,ENST00000489884,;SLC4A2,non_coding_transcript_exon_variant,,ENST00000493040,;SLC4A2,non_coding_transcript_exon_variant,,ENST00000460010,;FASTK,downstream_gene_variant,,ENST00000460980,;FASTK,downstream_gene_variant,,ENST00000465272,;FASTK,downstream_gene_variant,,ENST00000466855,;FASTK,downstream_gene_variant,,ENST00000467237,;FASTK,downstream_gene_variant,,ENST00000469237,;SLC4A2,downstream_gene_variant,,ENST00000469355,;SLC4A2,upstream_gene_variant,,ENST00000469467,;SLC4A2,upstream_gene_variant,,ENST00000472204,;SLC4A2,downstream_gene_variant,,ENST00000480107,;FASTK,downstream_gene_variant,,ENST00000482806,;FASTK,downstream_gene_variant,,ENST00000483953,;SLC4A2,downstream_gene_variant,,ENST00000494298,; G ENSG00000164889 ENST00000485713 Transcript stop_gained 3343/4925 2303/3726 768/1241 S/* tCa/tGa 1 1 SLC4A2 HGNC HGNC:11028 protein_coding YES CCDS5917.1 ENSP00000419412 P04920 UPI000013EFE9 NM_001199692.1 15/23 Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF14,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix HIGH 1 SNV 1 PASS TCA . . 151071800 USP17L7 . GRCh38 chr8 12133373 12133373 + Missense_Mutation SNP C T T rs9720235 7316-1790 BS_W75GCHPW C C c.637G>A p.Val213Ile p.V213I ENST00000530447 1/1 49 2 47 75 58 15 USP17L7,missense_variant,p.Val213Ile,ENST00000530447,NM_001256869.1;USP17L2,downstream_gene_variant,,ENST00000333796,NM_201402.2;FAM66D,intron_variant,,ENST00000434078,;AC130366.1,upstream_gene_variant,,ENST00000526505,; T ENSG00000226430 ENST00000530447 Transcript missense_variant 1066/2022 637/1593 213/530 V/I Gtt/Att rs9720235 1 -1 USP17L7 HGNC HGNC:37180 protein_coding YES CCDS78305.1 ENSP00000485337 P0C7H9 UPI00001972BD NM_001256869.1 tolerated(0.65) benign(0.003) 1/1 Gene3D:3.90.70.10,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR44033,hmmpanther:PTHR44033:SF3,Superfamily_domains:SSF54001,cd02661 0.4079 0.2897 0.5187 0.4077 0.4513 0.4448 MODERATE SNV PASS ACG . . 0.4505 0.3057 0.5211 0.491 0.3801 0.487 0.4531 0.4564 0.4292 12133373 USP17L2 . GRCh38 chr8 12137448 12137448 + Missense_Mutation SNP T C C rs12543578 7316-1790 BS_W75GCHPW T T c.1313A>G p.Lys438Arg p.K438R ENST00000333796 1/1 58 8 47 77 59 16 USP17L2,missense_variant,p.Lys438Arg,ENST00000333796,NM_201402.2;USP17L7,upstream_gene_variant,,ENST00000530447,NM_001256869.1;FAM66D,intron_variant,,ENST00000434078,; C ENSG00000223443 ENST00000333796 Transcript missense_variant 1630/1910 1313/1593 438/530 K/R aAa/aGa rs12543578,COSM4415128 1 -1 USP17L2 HGNC HGNC:34434 protein_coding YES CCDS43713.1 ENSP00000333329 Q6R6M4 UPI0000198137 NM_201402.2 tolerated(0.74) benign(0.405) 1/1 hmmpanther:PTHR44033,hmmpanther:PTHR44033:SF2 0.4229 0.3381 0.536 0.4018 0.4662 0.4346 0.2912 0.4049 0,1 MODERATE SNV 0,1 PASS TTT . . 0.4635 0.3534 0.5639 0.4984 0.3762 0.5164 0.4575 0.4678 0.417 12137448 DOCK5 . GRCh38 chr8 25400938 25400938 + Missense_Mutation SNP C C G novel 7316-1790 BS_W75GCHPW C C c.4798C>G p.Leu1600Val p.L1600V ENST00000276440 47/52 61 49 10 37 37 0 DOCK5,missense_variant,p.Leu1600Val,ENST00000276440,NM_024940.7;DOCK5,3_prime_UTR_variant,,ENST00000467709,; G ENSG00000147459 ENST00000276440 Transcript missense_variant 4842/10075 4798/5613 1600/1870 L/V Cta/Gta 1 1 DOCK5 HGNC HGNC:23476 protein_coding YES CCDS6047.1 ENSP00000276440 Q9H7D0 UPI000022D4F3 NM_024940.7 tolerated(0.06) benign(0.334) 47/52 Pfam_domain:PF06920,PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68,cd11708 MODERATE 1 SNV 1 PASS GCT . . 25400938 KAT6A . GRCh38 chr8 41977274 41977274 + Missense_Mutation SNP C C T rs1181854686 7316-1790 BS_W75GCHPW C C c.1097G>A p.Arg366Gln p.R366Q ENST00000396930 8/18 47 38 6 44 44 0 KAT6A,missense_variant,p.Arg366Gln,ENST00000396930,;KAT6A,missense_variant,p.Arg366Gln,ENST00000406337,;KAT6A,missense_variant,p.Arg366Gln,ENST00000265713,NM_006766.4;KAT6A,missense_variant,p.Arg366Gln,ENST00000485568,NM_001305878.1;KAT6A,non_coding_transcript_exon_variant,,ENST00000463961,;KAT6A,upstream_gene_variant,,ENST00000470574,; T ENSG00000083168 ENST00000396930 Transcript missense_variant 1641/9285 1097/6015 366/2004 R/Q cGa/cAa rs1181854686,COSM6690197 1 -1 KAT6A HGNC HGNC:13013 protein_coding YES CCDS6124.1 ENSP00000380136 Q92794 UPI000013D666 tolerated(0.45) probably_damaging(0.992) 8/18 hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF26,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 1 PASS TCG . . 4.069e-06 8.986e-06 41977274 VPS13B . GRCh38 chr8 99809444 99809444 + Missense_Mutation SNP G G A rs568716604 7316-1790 BS_W75GCHPW G G c.8086G>A p.Gly2696Arg p.G2696R ENST00000358544 44/62 67 54 11 32 32 0 VPS13B,missense_variant,p.Gly2696Arg,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Gly2671Arg,ENST00000357162,NM_152564.4;,regulatory_region_variant,,ENSR00000227863,; A ENSG00000132549 ENST00000358544 Transcript missense_variant 8197/14094 8086/12069 2696/4022 G/R Ggg/Agg rs568716604 1 1 VPS13B HGNC HGNC:2183 protein_coding YES CCDS6280.1 ENSP00000351346 Q7Z7G8 UPI00001D2D35 NM_017890.4 deleterious(0) probably_damaging(1) 44/62 hmmpanther:PTHR12517,Pfam_domain:PF06650 0.0002 0.001 MODERATE 1 SNV 1 1 PASS CGG . . 8.539e-05 0.0004172 5.829e-05 2.69e-05 9.746e-05 99809444 TNFRSF11B . GRCh38 chr8 118933046 118933046 + Missense_Mutation SNP C C A novel 7316-1790 BS_W75GCHPW C C c.285G>T p.Gln95His p.Q95H ENST00000297350 2/5 56 25 28 24 23 0 TNFRSF11B,missense_variant,p.Gln95His,ENST00000297350,NM_002546.3;TNFRSF11B,missense_variant,p.Gln95His,ENST00000517352,;TNFRSF11B,upstream_gene_variant,,ENST00000521597,; A ENSG00000164761 ENST00000297350 Transcript missense_variant 664/2402 285/1206 95/401 Q/H caG/caT 1 -1 TNFRSF11B HGNC HGNC:11909 protein_coding YES CCDS6326.1 ENSP00000297350 O00300 UPI0000157F05 NM_002546.3 tolerated(0.13) possibly_damaging(0.833) 2/5 PDB-ENSP_mappings:3urf.Z,PROSITE_profiles:PS50050,cd10581,hmmpanther:PTHR23097:SF90,hmmpanther:PTHR23097,Pfam_domain:PF00020,Gene3D:2.10.50.10,PIRSF_domain:PIRSF038065,SMART_domains:SM00208,Prints_domain:PR01975 MODERATE 1 SNV 1 1 PASS CCT . . 118933046 FAM83A . GRCh38 chr8 123183070 123183070 + Nonsense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.214C>T p.Gln72Ter p.Q72* ENST00000518448 2/5 62 46 12 22 22 0 FAM83A,stop_gained,p.Gln72Ter,ENST00000518448,NM_032899.6;FAM83A,stop_gained,p.Gln72Ter,ENST00000536633,NM_207006.2;FAM83A,stop_gained,p.Gln72Ter,ENST00000276699,;FAM83A,stop_gained,p.Gln72Ter,ENST00000522648,NM_001288587.2;RF00012,upstream_gene_variant,,ENST00000408534,;AC068228.1,upstream_gene_variant,,ENST00000522383,;FAM83A,upstream_gene_variant,,ENST00000521468,;FAM83A,downstream_gene_variant,,ENST00000523412,;FAM83A,downstream_gene_variant,,ENST00000523819,;FAM83A,downstream_gene_variant,,ENST00000520541,;,regulatory_region_variant,,ENSR00000229963,; T ENSG00000147689 ENST00000518448 Transcript stop_gained 2228/5393 214/1305 72/434 Q/* Cag/Tag 1 1 FAM83A HGNC HGNC:28210 protein_coding YES CCDS6340.1 ENSP00000428876 Q86UY5 UPI000019275C NM_032899.6 2/5 cd09181,hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF1,Pfam_domain:PF07894 HIGH 1 SNV 1 PASS CCA . . 123183070 ANKRD20A1 . GRCh38 chr9 67900908 67900908 + Missense_Mutation SNP G G A rs199688120 7316-1790 BS_W75GCHPW G G c.1913G>A p.Arg638Gln p.R638Q ENST00000562196 15/15 55 37 18 40 38 2 ANKRD20A1,missense_variant,p.Arg638Gln,ENST00000562196,NM_032250.3;ANKRD20A1,downstream_gene_variant,,ENST00000616155,;ANKRD20A1,downstream_gene_variant,,ENST00000622129,;BX649567.1,upstream_gene_variant,,ENST00000642071,; A ENSG00000260691 ENST00000562196 Transcript missense_variant 2193/3379 1913/2472 638/823 R/Q cGa/cAa rs199688120 1 1 ANKRD20A1 HGNC HGNC:23665 protein_coding YES CCDS6620.1 ENSP00000477695 Q5TYW2 UPI0000457755 NM_032250.3 tolerated(0.3) benign(0.076) 15/15 hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1,Pfam_domain:PF14915,Gene3D:1.10.287.620 0.0719 0.0068 0.1196 0.0764 0.0845 0.1084 MODERATE 1 SNV 1 PASS CGA . . 0.0001913 0.0004301 0.0002058 0.001206 9.112e-05 3.659e-05 0.0003734 6.581e-05 67900908 TRIM14 . GRCh38 chr9 98087759 98087759 + Missense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.1040G>A p.Arg347His p.R347H ENST00000341469 6/6 66 45 21 40 40 0 TRIM14,missense_variant,p.Arg347His,ENST00000341469,NM_014788.3;TRIM14,missense_variant,p.Arg347His,ENST00000375098,;TRIM14,missense_variant,p.Arg347His,ENST00000342043,NM_033219.2;NANS,downstream_gene_variant,,ENST00000210444,NM_018946.3;TRIM14,non_coding_transcript_exon_variant,,ENST00000478530,;NANS,downstream_gene_variant,,ENST00000461452,;TRIM14,downstream_gene_variant,,ENST00000475147,;,regulatory_region_variant,,ENSR00000238591,; T ENSG00000106785 ENST00000341469 Transcript missense_variant 1050/4454 1040/1329 347/442 R/H cGc/cAc 1 -1 TRIM14 HGNC HGNC:16283 protein_coding YES CCDS6734.1 ENSP00000344208 Q14142 A0A024R165 UPI0000137065 NM_014788.3 tolerated(0.21) benign(0.007) 6/6 Low_complexity_(Seg):seg,PROSITE_profiles:PS50188,cd13738,hmmpanther:PTHR44956,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407 MODERATE 1 SNV 1 PASS GCG . . 98087759 ECPAS . GRCh38 chr9 111389579 111389579 + Missense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.3958G>A p.Ala1320Thr p.A1320T ENST00000259335 32/51 59 29 27 43 43 0 ECPAS,missense_variant,p.Ala1320Thr,ENST00000259335,NM_001080398.1;ECPAS,missense_variant,p.Ala1142Thr,ENST00000338205,; T ENSG00000136813 ENST00000259335 Transcript missense_variant 3958/7391 3958/6054 1320/2017 A/T Gcg/Acg 1 -1 ECPAS HGNC HGNC:29020 protein_coding YES CCDS48006.1 ENSP00000259335 J3KN16 UPI0000DD7F7A NM_001080398.1 deleterious(0.01) possibly_damaging(0.877) 32/51 Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS GCA . . 111389579 C9orf84 . GRCh38 chr9 111723776 111723784 + Splice_Region DEL AAAGCATAT AAAGCATAT - novel 7316-1790 BS_W75GCHPW AAAGCATAT AAAGCATAT c.1762+8_1762+16del ENST00000374287 59 40 15 52 52 0 C9orf84,splice_region_variant,,ENST00000318737,NM_173521.4;C9orf84,splice_region_variant,,ENST00000374287,;C9orf84,splice_region_variant,,ENST00000394777,;C9orf84,splice_region_variant,,ENST00000394779,NM_001080551.2; - ENSG00000165181 ENST00000374287 Transcript splice_region_variant,intron_variant 1 -1 C9orf84 HGNC HGNC:26535 protein_coding YES CCDS6781.3 ENSP00000363405 Q5VXU9 UPI0000458916 11/24 LOW 1 deletion 5 PASS TAAAAGCATATA . . 111723775 HMCN2 . GRCh38 chr9 130428441 130428441 + Missense_Mutation SNP C C T rs1442767860 7316-1790 BS_W75GCHPW C C c.14089C>T p.Pro4697Ser p.P4697S ENST00000624552 93/98 49 32 16 39 39 0 HMCN2,missense_variant,p.Pro4697Ser,ENST00000624552,NM_001291815.1;HMCN2,missense_variant,p.Pro120Ser,ENST00000428715,;HMCN2,upstream_gene_variant,,ENST00000623487,; T ENSG00000148357 ENST00000624552 Transcript missense_variant 14089/15610 14089/15180 4697/5059 P/S Ccc/Tcc rs1442767860 1 1 HMCN2 HGNC HGNC:21293 protein_coding YES ENSP00000485357 Q8NDA2 UPI0004F23675 NM_001291815.1 tolerated(0.1) benign(0.401) 93/98 Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_profiles:PS50026,hmmpanther:PTHR44338,hmmpanther:PTHR44338:SF1,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,cd00054 MODERATE 1 SNV 5 PASS CCC . . 130428441 IL15RA . GRCh38 chr10 5963835 5963835 + Missense_Mutation SNP G G A rs1210202619 7316-1790 BS_W75GCHPW G G c.548C>T p.Pro183Leu p.P183L ENST00000397248 4/8 64 52 10 36 35 0 IL15RA,missense_variant,p.Pro61Leu,ENST00000525219,NM_001243539.1;IL15RA,missense_variant,p.Pro183Leu,ENST00000397248,NM_001256765.1;IL15RA,missense_variant,p.Pro97Leu,ENST00000379977,NM_002189.3;IL15RA,missense_variant,p.Pro148Leu,ENST00000622442,;IL15RA,missense_variant,p.Pro148Leu,ENST00000620345,;IL15RA,missense_variant,p.Pro148Leu,ENST00000397251,;IL15RA,missense_variant,p.Pro148Leu,ENST00000620865,;IL15RA,missense_variant,p.Pro97Leu,ENST00000397255,;IL15RA,missense_variant,p.Pro60Leu,ENST00000453922,;IL15RA,intron_variant,,ENST00000379971,;IL15RA,intron_variant,,ENST00000397246,;IL15RA,intron_variant,,ENST00000397250,;IL15RA,intron_variant,,ENST00000429135,;IL15RA,intron_variant,,ENST00000528354,NM_172200.2;IL15RA,intron_variant,,ENST00000530685,;IL15RA,intron_variant,,ENST00000532039,;IL15RA,upstream_gene_variant,,ENST00000435171,;IL15RA,upstream_gene_variant,,ENST00000447291,;IL15RA,non_coding_transcript_exon_variant,,ENST00000534292,;IL15RA,intron_variant,,ENST00000379972,;IL15RA,intron_variant,,ENST00000379974,;IL15RA,intron_variant,,ENST00000532948,; A ENSG00000134470 ENST00000397248 Transcript missense_variant 562/1799 548/1062 183/353 P/L cCt/cTt rs1210202619 1 -1 IL15RA HGNC HGNC:5978 protein_coding YES CCDS73065.1 ENSP00000380421 A0A0A0MS77 UPI00024F9753 NM_001256765.1 deleterious_low_confidence(0) probably_damaging(0.999) 4/8 hmmpanther:PTHR15060 MODERATE 1 SNV 1 PASS AGG . . 5963835 ITGA8 . GRCh38 chr10 15644039 15644039 + Missense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.1390G>A p.Asp464Asn p.D464N ENST00000378076 13/30 54 34 18 33 33 0 ITGA8,missense_variant,p.Asp464Asn,ENST00000378076,NM_001291494.1,NM_003638.2;ITGA8,non_coding_transcript_exon_variant,,ENST00000468882,; T ENSG00000077943 ENST00000378076 Transcript missense_variant 1744/6755 1390/3192 464/1063 D/N Gat/Aat 1 -1 ITGA8 HGNC HGNC:6144 protein_coding YES CCDS31155.1 ENSP00000367316 P53708 UPI00001D80A0 NM_001291494.1,NM_003638.2 deleterious(0.01) benign(0.367) 13/30 PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Gene3D:2.130.10.130,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185 MODERATE 1 SNV 1 1 PASS TCA . . 15644039 PPP1R3C . GRCh38 chr10 91630843 91630843 + Missense_Mutation SNP C C T rs532150057 7316-1790 BS_W75GCHPW C C c.38G>A p.Arg13His p.R13H ENST00000238994 2/2 63 58 5 41 38 0 PPP1R3C,missense_variant,p.Arg13His,ENST00000238994,NM_005398.5; T ENSG00000119938 ENST00000238994 Transcript missense_variant 123/2524 38/954 13/317 R/H cGt/cAt rs532150057 1 -1 PPP1R3C HGNC HGNC:9293 protein_coding YES CCDS7416.1 ENSP00000238994 Q9UQK1 UPI000006EFF1 NM_005398.5 deleterious(0.02) benign(0.013) 2/2 hmmpanther:PTHR12307:SF15,hmmpanther:PTHR12307,PIRSF_domain:PIRSF038207,PIRSF_domain:PIRSF500813 MODERATE 1 SNV 1 PASS ACG . . 8.162e-06 5.802e-05 8.965e-06 91630843 RBP4 . GRCh38 chr10 93600760 93600760 + Missense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.155G>A p.Gly52Asp p.G52D ENST00000371467 3/6 58 34 23 23 23 0 RBP4,missense_variant,p.Gly52Asp,ENST00000371467,NM_001323517.1;RBP4,missense_variant,p.Gly52Asp,ENST00000371464,NM_006744.3;RBP4,missense_variant,p.Gly50Asp,ENST00000629763,;RBP4,missense_variant,p.Gly50Asp,ENST00000371469,NM_001323518.1;FFAR4,intron_variant,,ENST00000604414,;,regulatory_region_variant,,ENSR00000031787,; T ENSG00000138207 ENST00000371467 Transcript missense_variant 475/1314 155/606 52/201 G/D gGc/gAc 1 -1 RBP4 HGNC HGNC:9922 protein_coding YES CCDS31249.1 ENSP00000360522 P02753 UPI0000044958 NM_001323517.1 deleterious(0) probably_damaging(1) 3/6 PDB-ENSP_mappings:1brp.A,PDB-ENSP_mappings:1brq.A,PDB-ENSP_mappings:1jyd.A,PDB-ENSP_mappings:1jyj.A,PDB-ENSP_mappings:1qab.E,PDB-ENSP_mappings:1qab.F,PDB-ENSP_mappings:1rbp.A,PDB-ENSP_mappings:1rlb.E,PDB-ENSP_mappings:1rlb.F,Gene3D:2.40.128.20,PDB-ENSP_mappings:2wq9.A,PDB-ENSP_mappings:2wqa.E,PDB-ENSP_mappings:2wqa.F,PDB-ENSP_mappings:2wr6.A,PDB-ENSP_mappings:3bsz.E,PDB-ENSP_mappings:3bsz.F,PDB-ENSP_mappings:3fmz.A,PDB-ENSP_mappings:3fmz.B,PDB-ENSP_mappings:4o9s.A,PDB-ENSP_mappings:4o9s.B,PDB-ENSP_mappings:4psq.A,PDB-ENSP_mappings:4psq.B,Pfam_domain:PF00061,PIRSF_domain:PIRSF036893,PIRSF_domain:PIRSF500204,Prints_domain:PR01174,hmmpanther:PTHR11873,hmmpanther:PTHR11873:SF2,Superfamily_domains:SSF50814 MODERATE 1 SNV 5 1 PASS GCC . . 93600760 PLCE1 . GRCh38 chr10 94273706 94273706 + Missense_Mutation SNP A A G novel 7316-1790 BS_W75GCHPW A A c.4651A>G p.Ile1551Val p.I1551V ENST00000371380 18/32 63 33 30 41 41 0 PLCE1,missense_variant,p.Ile1551Val,ENST00000371380,NM_016341.3,NM_001288989.1;PLCE1,missense_variant,p.Ile1243Val,ENST00000371375,;PLCE1,missense_variant,p.Ile1243Val,ENST00000371385,NM_001165979.2; G ENSG00000138193 ENST00000371380 Transcript missense_variant 4886/12024 4651/6909 1551/2302 I/V Atc/Gtc 1 1 PLCE1 HGNC HGNC:17175 protein_coding YES CCDS41552.1 ENSP00000360431 Q9P212 UPI00001F93EE NM_016341.3,NM_001288989.1 tolerated(0.13) probably_damaging(0.912) 18/32 cd08596,hmmpanther:PTHR10336:SF6,hmmpanther:PTHR10336,Gene3D:3.20.20.190,Superfamily_domains:SSF51695 MODERATE 1 SNV 1 1 PASS TAT . . 94273706 TCF7L2 . GRCh38 chr10 113165647 113165647 + Missense_Mutation SNP C G G rs77673441 7316-1790 BS_W75GCHPW C C c.1484C>G p.Pro495Arg p.P495R ENST00000627217 14/14 45 3 39 31 22 8 TCF7L2,missense_variant,p.Pro427Arg,ENST00000542695,;TCF7L2,missense_variant,p.Pro512Arg,ENST00000355995,;TCF7L2,missense_variant,p.Pro500Arg,ENST00000543371,;TCF7L2,missense_variant,p.Pro472Arg,ENST00000536810,NM_001146285.1;TCF7L2,missense_variant,p.Pro489Arg,ENST00000369397,NM_030756.4;TCF7L2,missense_variant,p.Pro495Arg,ENST00000627217,NM_001146274.1;TCF7L2,missense_variant,p.Pro477Arg,ENST00000629706,NM_001198526.1;TCF7L2,3_prime_UTR_variant,,ENST00000538897,NM_001146284.1,NM_001198529.1,NM_001198531.1;TCF7L2,3_prime_UTR_variant,,ENST00000534894,NM_001198530.1;TCF7L2,3_prime_UTR_variant,,ENST00000545257,NM_001198525.1;TCF7L2,3_prime_UTR_variant,,ENST00000355717,NM_001146286.1,NM_001146283.1;TCF7L2,3_prime_UTR_variant,,ENST00000369386,;TCF7L2,3_prime_UTR_variant,,ENST00000466338,;TCF7L2,intron_variant,,ENST00000480888,;TCF7L2,downstream_gene_variant,,ENST00000277945,;TCF7L2,downstream_gene_variant,,ENST00000352065,NM_001198528.1;TCF7L2,downstream_gene_variant,,ENST00000369395,NM_001198527.1;TCF7L2,3_prime_UTR_variant,,ENST00000470254,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000494353,;TCF7L2,downstream_gene_variant,,ENST00000471569,; G ENSG00000148737 ENST00000627217 Transcript missense_variant 1834/3680 1484/1809 495/602 P/R cCc/cGc rs77673441 1 1 TCF7L2 HGNC HGNC:11641 protein_coding YES CCDS53577.1 ENSP00000486891 Q9NQB0 UPI000002B4A6 NM_001146274.1 deleterious(0.03) benign(0.124) 14/14 hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF25,mobidb-lite,Low_complexity_(Seg):seg 0.0026 0.0069 0.005 0.001 0.001816 0.00593 MODERATE 1 SNV 1 1 PASS CCC . . 0.004469 0.001701 0.003153 0.0005183 0.004302 0.002118 0.006902 0.005 0.001444 113165647 MUC5AC . GRCh38 chr11 1185403 1185403 + Missense_Mutation SNP A A T novel 7316-1790 BS_W75GCHPW A A c.7258A>T p.Thr2420Ser p.T2420S ENST00000621226 31/49 95 58 25 36 33 0 MUC5AC,missense_variant,p.Thr2420Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; T ENSG00000215182 ENST00000621226 Transcript missense_variant 7305/17448 7258/16965 2420/5654 T/S Aca/Tca 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.41) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAC . . 1185403 SLC5A12 . GRCh38 chr11 26703955 26703958 + Splice_Region DEL AGAG AGAG - novel 7316-1790 BS_W75GCHPW AGAG AGAG c.526-11_526-8del ENST00000396005 86 30 52 39 37 0 SLC5A12,splice_region_variant,,ENST00000280467,;SLC5A12,splice_region_variant,,ENST00000396005,NM_178498.3;SLC5A12,splice_region_variant,,ENST00000533617,;SLC5A12,splice_region_variant,,ENST00000527405,; - ENSG00000148942 ENST00000396005 Transcript splice_region_variant,intron_variant 1 -1 SLC5A12 HGNC HGNC:28750 protein_coding YES CCDS7860.2 ENSP00000379326 Q1EHB4 UPI000003ED2C NM_178498.3 4/14 LOW 1 deletion 1 PASS ATAGAGA . . 26703954 OR5T1 . GRCh38 chr11 56276498 56276498 + Missense_Mutation SNP C C T rs368481930 7316-1790 BS_W75GCHPW C C c.860C>T p.Ser287Leu p.S287L ENST00000641665 3/3 95 71 21 38 37 0 OR5T1,missense_variant,p.Ser287Leu,ENST00000641665,;OR5T1,missense_variant,p.Ser287Leu,ENST00000641368,NM_001004745.1; T ENSG00000181698 ENST00000641665 Transcript missense_variant 1150/1471 860/981 287/326 S/L tCa/tTa rs368481930 1 1 OR5T1 HGNC HGNC:14821 protein_coding YES CCDS31525.1 ENSP00000493364 Q8NG75 A0A126GVL6 UPI000004B22E deleterious(0) possibly_damaging(0.651) 3/3 PROSITE_profiles:PS50262,hmmpanther:PTHR24248:SF33,hmmpanther:PTHR24248,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix MODERATE 1 SNV PASS TCA . . 56276498 AHNAK . GRCh38 chr11 62517154 62517154 + Missense_Mutation SNP C C T rs1235379113 7316-1790 BS_W75GCHPW C C c.17263G>A p.Gly5755Arg p.G5755R ENST00000378024 5/5 80 56 22 27 27 0 AHNAK,missense_variant,p.Gly5755Arg,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,non_coding_transcript_exon_variant,,ENST00000525875,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 17538/18787 17263/17673 5755/5890 G/R Gga/Aga rs1235379113 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 deleterious(0) probably_damaging(0.997) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CCT . . 1.224e-05 2.695e-05 62517154 P2RY6 . GRCh38 chr11 73296521 73296521 + Translation_Start_Site SNP G G A novel 7316-1790 BS_W75GCHPW G G c.3G>A p.Met1? p.M1? ENST00000618468 3/3 72 65 7 32 32 0 P2RY6,start_lost,p.Met1?,ENST00000618468,NM_001277206.1;P2RY6,start_lost,p.Met1?,ENST00000393590,NM_001277208.1;P2RY6,start_lost,p.Met1?,ENST00000540124,NM_001277204.1;P2RY6,start_lost,p.Met1?,ENST00000393591,NM_176798.2;P2RY6,start_lost,p.Met1?,ENST00000349767,NM_176796.2;P2RY6,start_lost,p.Met1?,ENST00000542092,NM_001277205.1;P2RY6,start_lost,p.Met1?,ENST00000540342,NM_001277207.1;P2RY6,start_lost,p.Met1?,ENST00000393592,NM_176797.2;P2RY6,start_lost,p.Met1?,ENST00000538328,;P2RY6,start_lost,p.Met1?,ENST00000535931,;P2RY6,start_lost,p.Met1?,ENST00000544437,;P2RY6,start_lost,p.Met1?,ENST00000536225,; A ENSG00000171631 ENST00000618468 Transcript start_lost 353/2431 3/987 1/328 M/I atG/atA 1 1 P2RY6 HGNC HGNC:8543 protein_coding YES CCDS8220.1 ENSP00000480966 Q15077 A0A024R5I9 UPI000005041C NM_001277206.1 deleterious_low_confidence(0.02) benign(0) 3/3 hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF16 HIGH 1 SNV 3 PASS TGG . . 73296521 HTR3B . GRCh38 chr11 113944740 113944740 + Missense_Mutation SNP C C A 7316-1790 BS_W75GCHPW C C c.1075C>A p.Arg359Ser p.R359S ENST00000260191 8/9 44 32 11 45 45 0 HTR3B,missense_variant,p.Arg359Ser,ENST00000260191,NM_006028.4;HTR3B,missense_variant,p.Arg348Ser,ENST00000537778,;HTR3B,downstream_gene_variant,,ENST00000543092,; A ENSG00000149305 ENST00000260191 Transcript missense_variant 1332/2011 1075/1326 359/441 R/S Cgt/Agt COSM5492869,COSM4760320 1 1 HTR3B HGNC HGNC:5298 protein_coding YES CCDS8364.1 ENSP00000260191 O95264 UPI0000073DA3 NM_006028.4 tolerated(0.73) benign(0) 8/9 hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF53,Gene3D:1.20.58.390,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112 1,1 MODERATE 1 SNV 1 1,1 PASS ACG . . 113944740 AP003121.1 . GRCh38 chr11 127190466 127190466 + Splice_Site SNP A A G novel 7316-1790 BS_W75GCHPW A A n.31-2A>G ENST00000646216 61 32 28 43 41 0 AP003121.1,splice_acceptor_variant,,ENST00000646216,;AP003121.1,upstream_gene_variant,,ENST00000609845,; G ENSG00000272642 ENST00000646216 Transcript splice_acceptor_variant,non_coding_transcript_variant 1 1 AP003121.1 Clone_based_ensembl_gene lincRNA YES 1/4 HIGH 1 SNV PASS TAG . . 127190466 FOXM1 . GRCh38 chr12 2868760 2868760 + Splice_Region SNP G G A novel 7316-1790 BS_W75GCHPW G G c.655-6C>T ENST00000342628 88 39 48 24 24 0 FOXM1,splice_region_variant,,ENST00000342628,NM_202002.2;FOXM1,splice_region_variant,,ENST00000359843,NM_021953.3;FOXM1,splice_region_variant,,ENST00000361953,NM_001243089.1,NM_202003.2;FOXM1,splice_region_variant,,ENST00000627656,NM_001243088.1;FOXM1,upstream_gene_variant,,ENST00000535350,;FOXM1,splice_region_variant,,ENST00000537018,;FOXM1,splice_region_variant,,ENST00000538564,;FOXM1,splice_region_variant,,ENST00000545049,;FOXM1,upstream_gene_variant,,ENST00000366362,;FOXM1,upstream_gene_variant,,ENST00000536066,; A ENSG00000111206 ENST00000342628 Transcript splice_region_variant,intron_variant 1 -1 FOXM1 HGNC HGNC:3818 protein_coding YES CCDS8516.1 ENSP00000342307 Q08050 UPI000016B22B NM_202002.2 3/9 LOW 1 SNV 1 PASS GGG . . 2868760 CD4 . GRCh38 chr12 6816125 6816125 + Missense_Mutation SNP C C T rs1471260797 7316-1790 BS_W75GCHPW C C c.677C>T p.Ala226Val p.A226V ENST00000011653 6/10 86 77 7 29 29 0 CD4,missense_variant,p.Ala226Val,ENST00000011653,NM_001195014.2,NM_001195016.2,NM_000616.4,NM_001195017.2,NM_001195015.2;CD4,3_prime_UTR_variant,,ENST00000541982,;CD4,non_coding_transcript_exon_variant,,ENST00000538827,;CD4,non_coding_transcript_exon_variant,,ENST00000536563,;CD4,downstream_gene_variant,,ENST00000536590,;CD4,downstream_gene_variant,,ENST00000536610,;CD4,non_coding_transcript_exon_variant,,ENST00000437800,;CD4,downstream_gene_variant,,ENST00000543755,;CD4,downstream_gene_variant,,ENST00000544344,; T ENSG00000010610 ENST00000011653 Transcript missense_variant 935/3114 677/1377 226/458 A/V gCc/gTc rs1471260797 1 1 CD4 HGNC HGNC:1678 protein_coding YES CCDS8562.1 ENSP00000011653 P01730 UPI0000001294 NM_001195014.2,NM_001195016.2,NM_000616.4,NM_001195017.2,NM_001195015.2 deleterious(0.01) benign(0.093) 6/10 PDB-ENSP_mappings:1wio.A,PDB-ENSP_mappings:1wio.B,PDB-ENSP_mappings:1wip.A,PDB-ENSP_mappings:1wip.B,PDB-ENSP_mappings:1wiq.A,PDB-ENSP_mappings:1wiq.B,PDB-ENSP_mappings:3t0e.E,PDB-ENSP_mappings:5u1f.M,cd07695,hmmpanther:PTHR11422:SF0,hmmpanther:PTHR11422,Gene3D:2.60.40.10,Pfam_domain:PF09191,SMART_domains:SM00409,Superfamily_domains:SSF48726,Prints_domain:PR00692 MODERATE 1 SNV 1 1 PASS GCC . . 6816125 LRMP . GRCh38 chr12 25038107 25038107 + Missense_Mutation SNP A A G novel 7316-1790 BS_W75GCHPW A A c.2114A>G p.Tyr705Cys p.Y705C ENST00000636465 16/39 105 89 15 52 52 0 LRMP,missense_variant,p.Tyr705Cys,ENST00000636465,;LRMP,downstream_gene_variant,,ENST00000557270,;LRMP,intron_variant,,ENST00000556485,;LRMP,downstream_gene_variant,,ENST00000555165,; G ENSG00000118308 ENST00000636465 Transcript missense_variant 2114/4540 2114/4365 705/1454 Y/C tAt/tGt 1 1 LRMP HGNC HGNC:6690 protein_coding ENSP00000489956 A0A1B0GU45 UPI0007E52A7B tolerated(0.18) benign(0.003) 16/39 hmmpanther:PTHR15352:SF3,hmmpanther:PTHR15352 MODERATE SNV 5 PASS TAT . . 25038107 CCDC91 . GRCh38 chr12 28484165 28484165 + Missense_Mutation SNP G G T novel 7316-1790 BS_W75GCHPW G G c.1215G>T p.Arg405Ser p.R405S ENST00000545336 15/16 96 74 19 40 39 0 CCDC91,missense_variant,p.Arg405Ser,ENST00000545336,;CCDC91,missense_variant,p.Arg369Ser,ENST00000539107,NM_001330367.1;CCDC91,missense_variant,p.Arg405Ser,ENST00000381259,NM_018318.3;CCDC91,missense_variant,p.Arg76Ser,ENST00000542801,;CCDC91,missense_variant,p.Arg104Ser,ENST00000535212,;CCDC91,downstream_gene_variant,,ENST00000536154,;CCDC91,splice_region_variant,,ENST00000540401,;CCDC91,splice_region_variant,,ENST00000543809,;CCDC91,splice_region_variant,,ENST00000535520,; T ENSG00000123106 ENST00000545336 Transcript missense_variant,splice_region_variant 1634/2738 1215/1326 405/441 R/S agG/agT 1 1 CCDC91 HGNC HGNC:24855 protein_coding YES CCDS8716.1 ENSP00000438040 Q7Z6B0 A0A024RAW6 UPI00001AEE23 deleterious(0) probably_damaging(0.985) 15/16 hmmpanther:PTHR35072 MODERATE 1 SNV 5 PASS GGG . . 28484165 AMHR2 . GRCh38 chr12 53429515 53429521 + Frame_Shift_Del DEL GATGGAT GATGGAT - novel 7316-1790 BS_W75GCHPW GATGGAT GATGGAT c.1030_1036del p.Asp344ArgfsTer76 p.D344Rfs*76 ENST00000257863 8/11 81 68 6 28 28 0 AMHR2,frameshift_variant,p.Asp344ArgfsTer76,ENST00000257863,NM_020547.2;AMHR2,frameshift_variant,p.Asp344ArgfsTer76,ENST00000550311,NM_001164690.1;AMHR2,frameshift_variant,p.Asp344ArgfsTer40,ENST00000379791,NM_001164691.1;AMHR2,frameshift_variant,p.Asp41ArgfsTer76,ENST00000550839,;AMHR2,non_coding_transcript_exon_variant,,ENST00000552233,;AMHR2,downstream_gene_variant,,ENST00000548303,;AMHR2,downstream_gene_variant,,ENST00000553037,; - ENSG00000135409 ENST00000257863 Transcript frameshift_variant 1110-1116/1863 1030-1036/1722 344-346/573 DGS/X GATGGATcg/cg 1 1 AMHR2 HGNC HGNC:465 protein_coding YES CCDS8858.1 ENSP00000257863 Q16671 UPI0000125970 NM_020547.2 8/11 PROSITE_profiles:PS50011,cd14054,hmmpanther:PTHR23255:SF49,hmmpanther:PTHR23255,PIRSF_domain:PIRSF037392,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112 HIGH 1 deletion 1 1 PASS AAGATGGATC . . 53429514 LRRIQ1 . GRCh38 chr12 85056777 85056777 + Missense_Mutation SNP G G T rs781494013 7316-1790 BS_W75GCHPW G G c.1984G>T p.Asp662Tyr p.D662Y ENST00000393217 8/27 59 24 33 53 52 0 LRRIQ1,missense_variant,p.Asp662Tyr,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,; T ENSG00000133640 ENST00000393217 Transcript missense_variant 2045/5394 1984/5169 662/1722 D/Y Gat/Tat rs781494013,COSM5783593,COSM5783592 1 1 LRRIQ1 HGNC HGNC:25708 protein_coding YES CCDS41816.1 ENSP00000376910 Q96JM4 A0A140VJN5 UPI0000ED4E82 NM_001079910.1 deleterious(0) possibly_damaging(0.902) 8/27 hmmpanther:PTHR45596,Gene3D:3.80.10.10 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TGA . . 2.071e-05 4.542e-05 85056777 PARPBP . GRCh38 chr12 102182592 102182592 + Missense_Mutation SNP C C T rs747001759 7316-1790 BS_W75GCHPW C C c.1459C>T p.Arg487Cys p.R487C ENST00000541394 10/12 68 56 11 40 39 0 PARPBP,missense_variant,p.Arg410Cys,ENST00000327680,NM_017915.4;PARPBP,missense_variant,p.Arg487Cys,ENST00000541394,NM_001319988.1;PARPBP,missense_variant,p.Arg256Cys,ENST00000417507,;PARPBP,missense_variant,p.Arg329Cys,ENST00000392911,NM_001319993.1,NM_001319994.1;PARPBP,intron_variant,,ENST00000412715,;PARPBP,intron_variant,,ENST00000543784,;PARPBP,intron_variant,,ENST00000535811,;PARPBP,3_prime_UTR_variant,,ENST00000457614,; T ENSG00000185480 ENST00000541394 Transcript missense_variant 1564/2452 1459/1971 487/656 R/C Cgc/Tgc rs747001759,COSM4841285,COSM4841284 1 1 PARPBP HGNC HGNC:26074 protein_coding YES CCDS81728.1 ENSP00000440850 B4DZ31 UPI00017A8405 NM_001319988.1 deleterious(0.04) probably_damaging(0.998) 10/12 hmmpanther:PTHR32121 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS ACG . . 2.449e-05 6.577e-05 5.811e-05 3.6e-05 102182592 ATP6V0A2 . GRCh38 chr12 123724678 123724678 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.319G>A p.Glu107Lys p.E107K ENST00000330342 4/20 52 36 15 41 41 0 ATP6V0A2,missense_variant,p.Glu107Lys,ENST00000330342,NM_012463.3;ATP6V0A2,missense_variant,p.Glu107Lys,ENST00000613625,;ATP6V0A2,5_prime_UTR_variant,,ENST00000504192,;ATP6V0A2,non_coding_transcript_exon_variant,,ENST00000540368,;RPL27P12,upstream_gene_variant,,ENST00000472241,; A ENSG00000185344 ENST00000330342 Transcript missense_variant 567/6542 319/2571 107/856 E/K Gaa/Aaa 1 1 ATP6V0A2 HGNC HGNC:18481 protein_coding YES CCDS9254.1 ENSP00000332247 Q9Y487 UPI00001AFC09 NM_012463.3 deleterious(0) probably_damaging(0.997) 4/20 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF22,Gene3D:1.20.5.340,PIRSF_domain:PIRSF001293,Pfam_domain:PF01496 MODERATE 1 SNV 1 1 PASS TGA . . 123724678 RXFP2 . GRCh38 chr13 31802291 31802292 + Frame_Shift_Ins INS - - A rs764705791 7316-1790 BS_W75GCHPW - - c.2161dup p.Ser721LysfsTer96 p.S721Kfs*96 ENST00000298386 18/18 65 47 9 33 32 0 RXFP2,frameshift_variant,p.Ser721LysfsTer96,ENST00000298386,NM_130806.3;RXFP2,frameshift_variant,p.Ser697LysfsTer96,ENST00000380314,NM_001166058.1; A ENSG00000133105 ENST00000298386 Transcript frameshift_variant 2222-2223/3319 2151-2152/2265 717-718/754 -/X -/A rs764705791 1 1 RXFP2 HGNC HGNC:17318 protein_coding YES CCDS9342.1 ENSP00000298386 Q8WXD0 UPI0000049589 NM_130806.3 18/18 Gene3D:1.20.1070.10,hmmpanther:PTHR44091,hmmpanther:PTHR44091:SF1,Low_complexity_(Seg):seg HIGH 1 insertion 1 10 1 PASS TTA . . 0.0002295 0.0002204 0.000188 0.0002502 0.0002095 0.0001536 0.0002655 0.0004454 0.000162 31802291 TBC1D4 . GRCh38 chr13 75481320 75481320 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.448C>T p.Pro150Ser p.P150S ENST00000377636 1/21 56 44 8 30 29 0 TBC1D4,missense_variant,p.Pro150Ser,ENST00000377636,NM_014832.4;TBC1D4,missense_variant,p.Pro150Ser,ENST00000431480,NM_001286658.2;TBC1D4,missense_variant,p.Pro150Ser,ENST00000377625,NM_001286659.2;,regulatory_region_variant,,ENSR00000063812,; A ENSG00000136111 ENST00000377636 Transcript missense_variant 795/6364 448/3897 150/1298 P/S Ccc/Tcc 1 -1 TBC1D4 HGNC HGNC:19165 protein_coding YES CCDS41901.1 ENSP00000366863 O60343 UPI00001AE7B3 NM_014832.4 tolerated(0.18) probably_damaging(0.999) 1/21 Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729,cd00934 MODERATE 1 SNV 2 1 PASS GGG . . 75481320 TXNDC16 . GRCh38 chr14 52537654 52537654 + Missense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.262G>A p.Glu88Lys p.E88K ENST00000281741 5/21 68 44 21 41 41 0 TXNDC16,missense_variant,p.Glu88Lys,ENST00000281741,NM_001160047.1,NM_020784.2;TXNDC16,intron_variant,,ENST00000557374,;TXNDC16,intron_variant,,ENST00000554399,; T ENSG00000087301 ENST00000281741 Transcript missense_variant 634/4564 262/2478 88/825 E/K Gaa/Aaa 1 -1 TXNDC16 HGNC HGNC:19965 protein_coding YES CCDS32083.1 ENSP00000281741 Q9P2K2 UPI000059D245 NM_001160047.1,NM_020784.2 tolerated(0.21) possibly_damaging(0.468) 5/21 Gene3D:3.40.30.10,hmmpanther:PTHR22699 MODERATE 1 SNV 1 PASS TCT . . 52537654 ALKBH1 . GRCh38 chr14 77674204 77674204 + Nonsense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.778C>T p.Gln260Ter p.Q260* ENST00000216489 6/6 62 52 10 42 42 0 ALKBH1,stop_gained,p.Gln260Ter,ENST00000216489,NM_006020.2;ALKBH1,3_prime_UTR_variant,,ENST00000557057,;ALKBH1,3_prime_UTR_variant,,ENST00000555100,; A ENSG00000100601 ENST00000216489 Transcript stop_gained 794/2594 778/1170 260/389 Q/* Caa/Taa 1 -1 ALKBH1 HGNC HGNC:17911 protein_coding YES CCDS32127.1 ENSP00000216489 Q13686 UPI000012585D NM_006020.2 6/6 Gene3D:2.60.120.590,Pfam_domain:PF13532,PROSITE_profiles:PS51471,hmmpanther:PTHR16557,hmmpanther:PTHR16557:SF2,Superfamily_domains:SSF51197,TIGRFAM_domain:TIGR00568 HIGH 1 SNV 1 PASS TGA . . 77674204 IGHV4-31 . GRCh38 chr14 106349457 106349457 + Missense_Mutation SNP G G T rs77489245 7316-1790 BS_W75GCHPW G G c.182C>A p.Pro61Gln p.P61Q ENST00000438142 2/2 38 7 24 137 113 12 IGHV4-31,missense_variant,p.Pro61Gln,ENST00000438142,;,regulatory_region_variant,,ENSR00000073887,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,;IGHVII-30-21,downstream_gene_variant,,ENST00000636897,; T ENSG00000231475 ENST00000438142 Transcript missense_variant 254/428 182/356 61/118 P/Q cCa/cAa rs77489245 1 -1 IGHV4-31 HGNC HGNC:5649 IG_V_gene YES ENSP00000395656 A0A087WSY4 UPI00034F23A3 deleterious_low_confidence(0.01) possibly_damaging(0.557) 2/2 0.6732 0.928 0.9415 0.9324 0.8926 MODERATE 1 SNV PASS TGG . . 106349457 ARHGAP11A . GRCh38 chr15 32623518 32623533 + Frame_Shift_Del DEL TAGAAGACCATATTCA TAGAAGACCATATTCA - novel 7316-1790 BS_W75GCHPW TAGAAGACCATATTCA TAGAAGACCATATTCA c.229_244del p.Glu77ProfsTer11 p.E77Pfs*11 ENST00000361627 3/12 61 41 15 55 55 0 ARHGAP11A,frameshift_variant,p.Glu77ProfsTer11,ENST00000361627,NM_014783.4;ARHGAP11A,frameshift_variant,p.Glu77ProfsTer11,ENST00000567348,NM_199357.1;ARHGAP11A,frameshift_variant,p.Glu77ProfsTer11,ENST00000563864,;ARHGAP11A,5_prime_UTR_variant,,ENST00000565905,NM_001286479.1;ARHGAP11A,5_prime_UTR_variant,,ENST00000543522,NM_001286480.1; - ENSG00000198826 ENST00000361627 Transcript frameshift_variant 949-964/5898 227-242/3072 76-81/1023 LEDHIH/X tTAGAAGACCATATTCAt/tt 1 1 ARHGAP11A HGNC HGNC:15783 protein_coding YES CCDS10028.1 ENSP00000355090 Q6P4F7 UPI0000071553 NM_014783.4 3/12 PROSITE_profiles:PS50238,cd04394,hmmpanther:PTHR15670,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350 HIGH 1 deletion 1 2 PASS TTTAGAAGACCATATTCAT . . 32623517 RYR3 . GRCh38 chr15 33601532 33601546 + In_Frame_Del DEL ACTGATTAACGATGT ACTGATTAACGATGT - novel 7316-1790 BS_W75GCHPW ACTGATTAACGATGT ACTGATTAACGATGT c.1903_1917del p.Leu635_Val639del p.L635_V639del ENST00000634891 17/104 66 44 22 38 38 0 RYR3,inframe_deletion,p.Leu635_Val639del,ENST00000634891,NM_001036.4;RYR3,inframe_deletion,p.Leu635_Val639del,ENST00000622037,;RYR3,inframe_deletion,p.Leu635_Val639del,ENST00000415757,NM_001243996.2;RYR3,inframe_deletion,p.Leu635_Val639del,ENST00000389232,;RYR3,inframe_deletion,p.Leu635_Val639del,ENST00000634418,; - ENSG00000198838 ENST00000634891 Transcript inframe_deletion 2003-2017/15591 1902-1916/14613 634-639/4870 RLINDV/R cgACTGATTAACGATGTa/cga 1 1 RYR3 HGNC HGNC:10485 protein_coding YES CCDS45210.1 ENSP00000489262 Q15413 UPI0000E5B01A NM_001036.4 17/104 PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16,Pfam_domain:PF01365 MODERATE 1 deletion 1 1 1 PASS CGACTGATTAACGATGTA . . 33601531 SPRED1 . GRCh38 chr15 38351161 38351161 + Missense_Mutation SNP T T A novel 7316-1790 BS_W75GCHPW T T c.832T>A p.Ser278Thr p.S278T ENST00000299084 7/7 59 54 5 37 36 0 SPRED1,missense_variant,p.Ser278Thr,ENST00000299084,NM_152594.2; A ENSG00000166068 ENST00000299084 Transcript missense_variant 1692/7780 832/1335 278/444 S/T Tcc/Acc 1 1 SPRED1 HGNC HGNC:20249 protein_coding YES CCDS32193.1 ENSP00000299084 Q7Z699 UPI0000072FBD NM_152594.2 tolerated(0.54) benign(0.078) 7/7 PROSITE_profiles:PS51488,hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF18 MODERATE 1 SNV 1 1 PASS TTC . . 38351161 SPRED1 . GRCh38 chr15 38351162 38351162 + Missense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.833C>T p.Ser278Phe p.S278F ENST00000299084 7/7 59 53 5 36 35 0 SPRED1,missense_variant,p.Ser278Phe,ENST00000299084,NM_152594.2; T ENSG00000166068 ENST00000299084 Transcript missense_variant 1693/7780 833/1335 278/444 S/F tCc/tTc 1 1 SPRED1 HGNC HGNC:20249 protein_coding YES CCDS32193.1 ENSP00000299084 Q7Z699 UPI0000072FBD NM_152594.2 tolerated(0.22) benign(0.005) 7/7 PROSITE_profiles:PS51488,hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF18 MODERATE 1 SNV 1 1 PASS TCC . . 38351162 RPAP1 . GRCh38 chr15 41527909 41527909 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.1379C>T p.Ala460Val p.A460V ENST00000304330 11/25 53 33 17 38 38 0 RPAP1,missense_variant,p.Ala460Val,ENST00000304330,NM_015540.3;RPAP1,missense_variant,p.Ala460Val,ENST00000561603,;RPAP1,upstream_gene_variant,,ENST00000565035,;RPAP1,downstream_gene_variant,,ENST00000568413,;RPAP1,missense_variant,p.Ala460Val,ENST00000562303,;RPAP1,upstream_gene_variant,,ENST00000561631,;RPAP1,upstream_gene_variant,,ENST00000564934,; A ENSG00000103932 ENST00000304330 Transcript missense_variant 1496/4665 1379/4182 460/1393 A/V gCa/gTa 1 -1 RPAP1 HGNC HGNC:24567 protein_coding YES CCDS10079.1 ENSP00000306123 Q9BWH6 UPI000013D465 NM_015540.3 deleterious(0.01) probably_damaging(0.928) 11/25 Low_complexity_(Seg):seg,hmmpanther:PTHR21483 MODERATE 1 SNV 1 PASS TGC . . 41527909 PML . GRCh38 chr15 74044793 74044793 + Missense_Mutation SNP C C G novel 7316-1790 BS_W75GCHPW C C c.2434C>G p.His812Asp p.H812D ENST00000268058 9/9 61 34 26 22 22 0 PML,missense_variant,p.His764Asp,ENST00000565898,;PML,missense_variant,p.His812Asp,ENST00000268058,NM_033238.2;PML,downstream_gene_variant,,ENST00000359928,NM_033246.2;PML,downstream_gene_variant,,ENST00000395135,NM_002675.3;PML,downstream_gene_variant,,ENST00000564428,NM_033249.2;PML,downstream_gene_variant,,ENST00000569965,;PML,downstream_gene_variant,,ENST00000565317,; G ENSG00000140464 ENST00000268058 Transcript missense_variant 2530/4508 2434/2649 812/882 H/D Cac/Gac 1 1 PML HGNC HGNC:9113 protein_coding YES CCDS10255.1 ENSP00000268058 P29590 UPI000013D78F NM_033238.2 deleterious(0.01) benign(0.25) 9/9 hmmpanther:PTHR45211 MODERATE 1 SNV 1 1 PASS ACA . . 74044793 SV2B . GRCh38 chr15 91284066 91284066 + Missense_Mutation SNP C C A rs1458921786 7316-1790 BS_W75GCHPW C C c.1553C>A p.Thr518Asn p.T518N ENST00000394232 11/13 45 31 12 43 43 0 SV2B,missense_variant,p.Thr518Asn,ENST00000394232,NM_001323034.1,NM_014848.5,NM_001323032.1,NM_001323033.1;SV2B,missense_variant,p.Thr518Asn,ENST00000330276,NM_001323039.1,NM_001323037.1,NM_001323038.1,NM_001323031.1;SV2B,missense_variant,p.Thr367Asn,ENST00000545111,NM_001323040.1,NM_001323036.1,NM_001167580.1;SV2B,missense_variant,p.Thr518Asn,ENST00000557410,; A ENSG00000185518 ENST00000394232 Transcript missense_variant 2023/11279 1553/2052 518/683 T/N aCc/aAc rs1458921786 1 1 SV2B HGNC HGNC:16874 protein_coding YES CCDS10370.1 ENSP00000377779 Q7L1I2 UPI000006FCF1 NM_001323034.1,NM_014848.5,NM_001323032.1,NM_001323033.1 deleterious(0) probably_damaging(0.925) 11/13 PROSITE_profiles:PS50850,hmmpanther:PTHR23511,hmmpanther:PTHR23511:SF2,TIGRFAM_domain:TIGR01299,Gene3D:1.20.1250.20,Pfam_domain:PF13599,Superfamily_domains:SSF141571 MODERATE 1 SNV 5 PASS ACC . . 91284066 SYNGR3 . GRCh38 chr16 1992034 1992034 + Missense_Mutation SNP G G A rs766940293 7316-1790 BS_W75GCHPW G G c.160G>A p.Gly54Ser p.G54S ENST00000248121 2/4 88 70 17 26 26 0 SYNGR3,missense_variant,p.Gly54Ser,ENST00000248121,NM_004209.5;SYNGR3,missense_variant,p.Gly54Ser,ENST00000618464,;SYNGR3,missense_variant,p.Arg31Gln,ENST00000563869,;SYNGR3,missense_variant,p.Gly94Ser,ENST00000568896,;SYNGR3,5_prime_UTR_variant,,ENST00000562045,;GFER,downstream_gene_variant,,ENST00000248114,NM_005262.2;AC005606.2,upstream_gene_variant,,ENST00000565041,;SYNGR3,upstream_gene_variant,,ENST00000564642,;,regulatory_region_variant,,ENSR00000279433,; A ENSG00000127561 ENST00000248121 Transcript missense_variant 318/2051 160/690 54/229 G/S Ggc/Agc rs766940293 1 1 SYNGR3 HGNC HGNC:11501 protein_coding YES CCDS10456.1 ENSP00000248121 O43761 UPI0000135B32 NM_004209.5 tolerated(0.73) benign(0.009) 2/4 PROSITE_profiles:PS51225,hmmpanther:PTHR10838:SF8,hmmpanther:PTHR10838,Pfam_domain:PF01284,PIRSF_domain:PIRSF011282 MODERATE 1 SNV 1 PASS CGG . . 1.593e-05 1.253e-05 7.577e-05 1992034 SRRM2 . GRCh38 chr16 2762075 2762075 + Missense_Mutation SNP C C A novel 7316-1790 BS_W75GCHPW C C c.1547C>A p.Ser516Tyr p.S516Y ENST00000301740 11/15 66 49 16 31 31 0 SRRM2,missense_variant,p.Ser516Tyr,ENST00000301740,NM_016333.3;SRRM2,missense_variant,p.Ser516Tyr,ENST00000576924,;SRRM2,missense_variant,p.Ser420Tyr,ENST00000571378,;SRRM2,intron_variant,,ENST00000630499,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000574340,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000576415,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,non_coding_transcript_exon_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000573451,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000575701,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000576894,; A ENSG00000167978 ENST00000301740 Transcript missense_variant 2096/9353 1547/8259 516/2752 S/Y tCc/tAc 1 1 SRRM2 HGNC HGNC:16639 protein_coding YES CCDS32373.1 ENSP00000301740 Q9UQ35 A0A140VK53 UPI000049DDFC NM_016333.3 deleterious_low_confidence(0) probably_damaging(0.96) 11/15 hmmpanther:PTHR45208,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TCC . . 2762075 SRRM2 . GRCh38 chr16 2762100 2762100 + Missense_Mutation SNP A A C 7316-1790 BS_W75GCHPW A A c.1572A>C p.Arg524Ser p.R524S ENST00000301740 11/15 66 51 14 27 27 0 SRRM2,missense_variant,p.Arg524Ser,ENST00000301740,NM_016333.3;SRRM2,missense_variant,p.Arg524Ser,ENST00000576924,;SRRM2,missense_variant,p.Arg428Ser,ENST00000571378,;SRRM2,intron_variant,,ENST00000630499,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000574340,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000576415,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,non_coding_transcript_exon_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000573451,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000575701,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000576894,; C ENSG00000167978 ENST00000301740 Transcript missense_variant 2121/9353 1572/8259 524/2752 R/S agA/agC COSM5028054 1 1 SRRM2 HGNC HGNC:16639 protein_coding YES CCDS32373.1 ENSP00000301740 Q9UQ35 A0A140VK53 UPI000049DDFC NM_016333.3 deleterious_low_confidence(0) benign(0.037) 11/15 hmmpanther:PTHR45208,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS GAT . . 2762100 PRSS41 . GRCh38 chr16 2804509 2804509 + Missense_Mutation SNP G G C novel 7316-1790 BS_W75GCHPW G G c.701G>C p.Cys234Ser p.C234S ENST00000399677 4/5 86 77 8 44 44 0 PRSS41,missense_variant,p.Cys234Ser,ENST00000399677,NM_001135086.1;,regulatory_region_variant,,ENSR00000279453,; C ENSG00000215148 ENST00000399677 Transcript missense_variant 701/1127 701/957 234/318 C/S tGt/tCt 1 1 PRSS41 HGNC HGNC:30715 protein_coding YES ENSP00000492058 Q7RTY9 UPI00001BE924 NM_001135086.1 deleterious(0) probably_damaging(1) 4/5 cd00190,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24253,hmmpanther:PTHR24253:SF12 MODERATE 1 SNV 5 PASS TGT . . 2804509 EXOSC6 . GRCh38 chr16 70251792 70251792 + Missense_Mutation SNP G G A novel 7316-1790 BS_W75GCHPW G G c.109C>T p.Arg37Trp p.R37W ENST00000435634 1/1 60 53 7 30 29 1 EXOSC6,missense_variant,p.Arg37Trp,ENST00000435634,NM_058219.2;AARS,downstream_gene_variant,,ENST00000261772,NM_001605.2;AARS,downstream_gene_variant,,ENST00000565361,;AARS,downstream_gene_variant,,ENST00000564359,;AARS,downstream_gene_variant,,ENST00000569825,;,regulatory_region_variant,,ENSR00000087547,; A ENSG00000223496 ENST00000435634 Transcript missense_variant 139/5153 109/819 37/272 R/W Cgg/Tgg 1 -1 EXOSC6 HGNC HGNC:19055 protein_coding YES CCDS10887.1 ENSP00000398597 Q5RKV6 UPI000013DEEE NM_058219.2 deleterious(0) probably_damaging(0.999) 1/1 PDB-ENSP_mappings:2nn6.F,Gene3D:3.30.230.70,Pfam_domain:PF01138,hmmpanther:PTHR11953,hmmpanther:PTHR11953:SF2,Superfamily_domains:SSF54211,cd11371 MODERATE SNV PASS CGT . . 70251792 GSE1 . GRCh38 chr16 85655781 85655781 + Missense_Mutation SNP A A C rs764482625 7316-1790 BS_W75GCHPW A A c.853A>C p.Thr285Pro p.T285P ENST00000253458 6/16 70 51 15 36 31 2 GSE1,missense_variant,p.Thr285Pro,ENST00000253458,NM_014615.3;GSE1,missense_variant,p.Thr212Pro,ENST00000393243,NM_001278184.1;GSE1,missense_variant,p.Thr92Pro,ENST00000412692,;GSE1,missense_variant,p.Thr181Pro,ENST00000405402,NM_001134473.2;GSE1,missense_variant,p.Thr181Pro,ENST00000411612,;GSE1,downstream_gene_variant,,ENST00000635906,;RN7SL381P,upstream_gene_variant,,ENST00000577658,; C ENSG00000131149 ENST00000253458 Transcript missense_variant 1029/7495 853/3654 285/1217 T/P Acc/Ccc rs764482625 1 1 GSE1 HGNC HGNC:28979 protein_coding YES CCDS10952.1 ENSP00000253458 Q14687 UPI0000185F04 NM_014615.3 tolerated(0.28) benign(0.046) 6/16 Gene3D:1.20.1000.10,hmmpanther:PTHR17608 MODERATE 1 SNV 5 PASS CAC . . 0.0009101 0.0004056 0.003091 0.001384 0.0005622 0.0009024 0.0004623 0.001431 0.0006213 85655781 KRT27 . GRCh38 chr17 40780407 40780407 + Missense_Mutation SNP C T T rs17558560 7316-1790 BS_W75GCHPW C C c.577G>A p.Gly193Ser p.G193S ENST00000301656 3/8 43 1 42 32 25 7 KRT27,missense_variant,p.Gly193Ser,ENST00000301656,NM_181537.3;KRT27,upstream_gene_variant,,ENST00000540723,; T ENSG00000171446 ENST00000301656 Transcript missense_variant 618/1612 577/1380 193/459 G/S Ggt/Agt rs17558560,COSM5426683 1 -1 KRT27 HGNC HGNC:30841 protein_coding YES CCDS11375.1 ENSP00000301656 Q7Z3Y8 UPI0000200C91 NM_181537.3 tolerated(0.06) benign(0.314) 3/8 hmmpanther:PTHR23239:SF120,hmmpanther:PTHR23239,Gene3D:1.20.5.340,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF90257,Prints_domain:PR01248 0.3488 0.121 0.2939 0.6617 0.4076 0.3129 0.1575 0.4357 0,1 MODERATE 1 SNV 1 0,1 PASS CCA . . 0.4047 0.1497 0.3412 0.4394 0.6696 0.4347 0.4298 0.3888 0.3321 40780407 CACNA1G . GRCh38 chr17 50575769 50575769 + Missense_Mutation SNP G G A rs116920450 7316-1790 BS_W75GCHPW G G c.1367G>A p.Arg456Gln p.R456Q ENST00000359106 8/38 52 35 16 24 23 0 CACNA1G,missense_variant,p.Arg456Gln,ENST00000354983,NM_198396.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000352832,NM_198387.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000359106,NM_018896.4;CACNA1G,missense_variant,p.Arg456Gln,ENST00000360761,NM_198382.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000442258,NM_198388.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000429973,NM_198386.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000507336,NM_198377.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000358244,NM_198376.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000507510,NM_198385.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000515765,NM_198380.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000515411,NM_001256324.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000502264,NM_198383.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000510115,NM_198379.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000514079,NM_001256325.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000513689,NM_001256326.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000515165,NM_198384.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000507609,NM_001256327.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000512389,NM_198378.2;CACNA1G,missense_variant,p.Arg456Gln,ENST00000514181,NM_001256328.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000513964,NM_001256330.1,NM_001256361.1,NM_001256360.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000510366,NM_001256331.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000514717,NM_001256332.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000505165,NM_001256333.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000507896,NM_001256334.1;CACNA1G,missense_variant,p.Arg456Gln,ENST00000416767,;CACNA1G,downstream_gene_variant,,ENST00000570567,;CACNA1G,missense_variant,p.Arg456Gln,ENST00000506406,;CACNA1G,missense_variant,p.Arg456Gln,ENST00000504076,;CACNA1G,missense_variant,p.Arg456Gln,ENST00000511765,;CACNA1G,missense_variant,p.Arg456Gln,ENST00000503436,;CACNA1G,missense_variant,p.Arg456Gln,ENST00000511768,;CACNA1G,missense_variant,p.Arg456Gln,ENST00000503607,; A ENSG00000006283 ENST00000359106 Transcript missense_variant 1367/7648 1367/7134 456/2377 R/Q cGg/cAg rs116920450 1 1 CACNA1G HGNC HGNC:1394 protein_coding YES CCDS45730.1 ENSP00000352011 O43497 UPI000012727A NM_018896.4 tolerated(0.12) benign(0.087) 8/38 hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137 0.0028 0.0008 0.0109 0.002 0.002866 0.009358 MODERATE 1 SNV 1 1 PASS CGG . . 0.006781 0.001327 0.001793 0.007156 9.276e-05 0.00543 0.01209 0.005397 0.003753 50575769 BPTF . GRCh38 chr17 67946114 67946114 + Missense_Mutation SNP T T G novel 7316-1790 BS_W75GCHPW T T c.7406T>G p.Leu2469Arg p.L2469R ENST00000306378 21/28 73 63 9 33 32 0 BPTF,missense_variant,p.Leu2595Arg,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Leu2456Arg,ENST00000644067,;BPTF,missense_variant,p.Leu2469Arg,ENST00000306378,NM_182641.3;BPTF,intron_variant,,ENST00000342579,;BPTF,intron_variant,,ENST00000424123,;BPTF,intron_variant,,ENST00000580465,;BPTF,downstream_gene_variant,,ENST00000544778,;BPTF,upstream_gene_variant,,ENST00000581258,;AC134407.1,downstream_gene_variant,,ENST00000577385,;BPTF,downstream_gene_variant,,ENST00000577770,;BPTF,downstream_gene_variant,,ENST00000582406,;BPTF,downstream_gene_variant,,ENST00000584931,; G ENSG00000171634 ENST00000306378 Transcript missense_variant 7466/9688 7406/8763 2469/2920 L/R cTc/cGc 1 1 BPTF HGNC HGNC:3581 protein_coding YES CCDS11673.1 ENSP00000307208 Q12830 UPI00002263BF NM_182641.3 deleterious(0) probably_damaging(0.999) 21/28 Low_complexity_(Seg):seg,hmmpanther:PTHR22880:SF137,hmmpanther:PTHR22880 MODERATE 1 SNV 1 1 PASS CTC . . 67946114 ABCA8 . GRCh38 chr17 68885245 68885245 + Missense_Mutation SNP A T T novel 7316-1790 BS_W75GCHPW A A c.3500T>A p.Phe1167Tyr p.F1167Y ENST00000586539 27/40 72 2 67 48 48 0 ABCA8,missense_variant,p.Phe1167Tyr,ENST00000430352,NM_001288986.1;ABCA8,missense_variant,p.Phe1127Tyr,ENST00000269080,NM_007168.3;ABCA8,missense_variant,p.Phe1167Tyr,ENST00000586539,NM_001288985.1;ABCA8,downstream_gene_variant,,ENST00000541225,;ABCA8,upstream_gene_variant,,ENST00000586292,;ABCA8,upstream_gene_variant,,ENST00000589980,;ABCA8,upstream_gene_variant,,ENST00000591459,; T ENSG00000141338 ENST00000586539 Transcript missense_variant 3689/5088 3500/4866 1167/1621 F/Y tTt/tAt 1 -1 ABCA8 HGNC HGNC:38 protein_coding YES CCDS74139.1 ENSP00000467271 O94911 UPI0002065B1E NM_001288985.1 tolerated(0.2) possibly_damaging(0.596) 27/40 Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF148,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS AAA . . 68885245 CPSF4L . GRCh38 chr17 73257816 73257816 + Nonsense_Mutation SNP G G A rs201285689 7316-1790 BS_W75GCHPW G G c.172C>T p.Arg58Ter p.R58* ENST00000344935 3/6 64 49 13 32 32 0 CPSF4L,stop_gained,p.Arg58Ter,ENST00000344935,NM_001129885.1;CPSF4L,5_prime_UTR_variant,,ENST00000397671,; A ENSG00000187959 ENST00000344935 Transcript stop_gained 234/647 172/540 58/179 R/* Cga/Tga rs201285689 1 -1 CPSF4L HGNC HGNC:33632 protein_coding YES CCDS45768.1 ENSP00000343900 A6NMK7 UPI0001747B02 NM_001129885.1 3/6 Gene3D:4.10.1000.10,Pfam_domain:PF15663,PROSITE_profiles:PS50103,hmmpanther:PTHR23102,hmmpanther:PTHR23102:SF19,SMART_domains:SM00356,Superfamily_domains:SSF90229 0.0004 0.002 0.0003143 HIGH 1 SNV 1 PASS CGG . . 0.000199 0.00254 6.95e-05 73257816 SDK2 . GRCh38 chr17 73383962 73383962 + Missense_Mutation SNP C C T rs771273833 7316-1790 BS_W75GCHPW C C c.4619G>A p.Arg1540Gln p.R1540Q ENST00000392650 33/45 48 27 19 18 18 0 SDK2,missense_variant,p.Arg1540Gln,ENST00000392650,NM_001144952.1;SDK2,missense_variant,p.Arg716Gln,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,; T ENSG00000069188 ENST00000392650 Transcript missense_variant 4620/10723 4619/6519 1540/2172 R/Q cGa/cAa rs771273833,COSM5741118,COSM5741117 1 -1 SDK2 HGNC HGNC:19308 protein_coding YES CCDS45769.1 ENSP00000376421 Q58EX2 UPI0000E5A088 NM_001144952.1 tolerated(0.24) benign(0.029) 33/45 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR44118,hmmpanther:PTHR44118:SF4,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TCG . . 2.031e-05 1.791e-05 9.751e-05 73383962 DNAH17 . GRCh38 chr17 78450286 78450286 + Missense_Mutation SNP T T C novel 7316-1790 BS_W75GCHPW T T c.11008A>G p.Lys3670Glu p.K3670E ENST00000389840 68/81 54 25 25 29 28 0 DNAH17,missense_variant,p.Lys3670Glu,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Lys3665Glu,ENST00000585328,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,downstream_gene_variant,,ENST00000592152,;DNAH17,missense_variant,p.Lys871Glu,ENST00000591369,;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,; C ENSG00000187775 ENST00000389840 Transcript missense_variant 11133/13723 11008/13389 3670/4462 K/E Aaa/Gaa 1 -1 DNAH17 HGNC HGNC:2946 protein_coding YES ENSP00000374490 Q9UFH2 UPI0001B25601 NM_173628.3 deleterious(0.01) probably_damaging(0.999) 68/81 hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257 MODERATE 1 SNV 5 PASS TTG . . 78450286 DLGAP1 . GRCh38 chr18 3581897 3581897 + Missense_Mutation SNP C C T rs139978674 7316-1790 BS_W75GCHPW C C c.1943G>A p.Arg648Gln p.R648Q ENST00000315677 8/13 92 73 17 47 46 0 DLGAP1,missense_variant,p.Arg648Gln,ENST00000315677,NM_004746.3;DLGAP1,missense_variant,p.Arg364Gln,ENST00000400150,NM_001308390.1;DLGAP1,missense_variant,p.Arg370Gln,ENST00000515196,NM_001242763.1;DLGAP1,missense_variant,p.Arg346Gln,ENST00000400147,NM_001003809.2;DLGAP1,missense_variant,p.Arg354Gln,ENST00000400155,NM_001242764.1;DLGAP1,missense_variant,p.Arg338Gln,ENST00000400149,;DLGAP1,missense_variant,p.Arg648Gln,ENST00000581527,NM_001242761.1;DLGAP1,missense_variant,p.Arg356Gln,ENST00000539435,NM_001242766.1;DLGAP1,missense_variant,p.Arg332Gln,ENST00000534970,NM_001242762.1;DLGAP1,missense_variant,p.Arg354Gln,ENST00000581699,;DLGAP1,missense_variant,p.Arg346Gln,ENST00000400145,NM_001242765.1;AP002472.1,downstream_gene_variant,,ENST00000577490,; T ENSG00000170579 ENST00000315677 Transcript missense_variant 2539/6683 1943/2934 648/977 R/Q cGa/cAa rs139978674 1 -1 DLGAP1 HGNC HGNC:2905 protein_coding YES CCDS11836.1 ENSP00000316377 O14490 UPI0000129490 NM_004746.3 tolerated(0.06) benign(0.067) 8/13 hmmpanther:PTHR12353:SF7,hmmpanther:PTHR12353,Pfam_domain:PF03359 0.0002 0.001 0.0004539 0.0003488 MODERATE 1 SNV 5 PASS TCG . . 0.0003526 6.535e-05 0.0002467 0.0005492 0.001787 3581897 CEP192 . GRCh38 chr18 13042269 13042269 + Missense_Mutation SNP G G T novel 7316-1790 BS_W75GCHPW G G c.2002G>T p.Val668Leu p.V668L ENST00000506447 15/45 136 122 13 39 39 0 CEP192,missense_variant,p.Val668Leu,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.Val193Leu,ENST00000325971,;CEP192,missense_variant,p.Val207Leu,ENST00000511820,;CEP192,missense_variant,p.Val409Leu,ENST00000589596,;CEP192,missense_variant,p.Val268Leu,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000513432,; T ENSG00000101639 ENST00000506447 Transcript missense_variant 2082/7960 2002/7614 668/2537 V/L Gta/Tta 1 1 CEP192 HGNC HGNC:25515 protein_coding YES CCDS32792.2 ENSP00000427550 Q8TEP8 UPI0001B09235 NM_032142.3 tolerated(1) benign(0) 15/45 hmmpanther:PTHR16029 MODERATE 1 SNV 5 PASS AGT . . 13042269 MYO5B . GRCh38 chr18 49937361 49937361 + Missense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.1789G>A p.Asp597Asn p.D597N ENST00000285039 15/40 80 63 14 44 42 0 MYO5B,missense_variant,p.Asp597Asn,ENST00000285039,NM_001080467.2; T ENSG00000167306 ENST00000285039 Transcript missense_variant 2089/9505 1789/5547 597/1848 D/N Gac/Aac 1 -1 MYO5B HGNC HGNC:7603 protein_coding YES CCDS42436.1 ENSP00000285039 Q9ULV0 UPI00001D7B21 NM_001080467.2 tolerated(0.18) benign(0.007) 15/40 mobidb-lite,PROSITE_profiles:PS51456,cd01380,hmmpanther:PTHR13140:SF356,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 1 PASS TCC . . 49937361 HSBP1L1 . GRCh38 chr18 79968135 79968135 + Missense_Mutation SNP G T T rs2298645 7316-1790 BS_W75GCHPW G G c.165G>T p.Lys55Asn p.K55N ENST00000451882 3/4 50 1 47 28 22 6 HSBP1L1,missense_variant,p.Lys55Asn,ENST00000451882,NM_001136180.1;TXNL4A,downstream_gene_variant,,ENST00000269601,NM_001303471.2,NM_006701.4,NM_001305557.1;TXNL4A,downstream_gene_variant,,ENST00000585474,NM_001305564.1;HSBP1L1,3_prime_UTR_variant,,ENST00000589516,;HSBP1L1,non_coding_transcript_exon_variant,,ENST00000587347,;HSBP1L1,upstream_gene_variant,,ENST00000590571,;HSBP1L1,downstream_gene_variant,,ENST00000592352,; T ENSG00000226742 ENST00000451882 Transcript missense_variant 340/771 165/225 55/74 K/N aaG/aaT rs2298645 1 1 HSBP1L1 HGNC HGNC:37243 protein_coding YES CCDS45886.1 ENSP00000414236 C9JCN9 UPI000013FC53 NM_001136180.1 tolerated(0.92) benign(0) 3/4 Gene3D:3.90.20.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06825,hmmpanther:PTHR19424,hmmpanther:PTHR19424:SF4 0.7985 0.6135 0.8271 0.9167 0.825 0.8793 0.6279 0.829 MODERATE 1 SNV 1 PASS AGG . . 0.8342 0.6325 0.8409 0.7335 0.9183 0.8861 0.8261 0.8227 0.8809 79968135 SF3A2 . GRCh38 chr19 2236907 2236907 + Splice_Region SNP G G T novel 7316-1790 BS_W75GCHPW G G c.-38+6G>T ENST00000221494 55 38 15 31 29 0 SF3A2,splice_region_variant,,ENST00000221494,NM_007165.4;PLEKHJ1,5_prime_UTR_variant,,ENST00000589097,;PLEKHJ1,upstream_gene_variant,,ENST00000326631,NM_018049.2;DOT1L,downstream_gene_variant,,ENST00000398665,NM_032482.2;SF3A2,upstream_gene_variant,,ENST00000586396,;PLEKHJ1,upstream_gene_variant,,ENST00000586608,;PLEKHJ1,upstream_gene_variant,,ENST00000587394,NM_001300836.1;PLEKHJ1,upstream_gene_variant,,ENST00000587962,;PLEKHJ1,upstream_gene_variant,,ENST00000591099,;MIR1227,upstream_gene_variant,,ENST00000408484,;MIR6789,upstream_gene_variant,,ENST00000619892,;PLEKHJ1,upstream_gene_variant,,ENST00000588633,;PLEKHJ1,upstream_gene_variant,,ENST00000589791,;SF3A2,splice_region_variant,,ENST00000589118,;SF3A2,splice_region_variant,,ENST00000592314,;SF3A2,splice_region_variant,,ENST00000592839,;PLEKHJ1,upstream_gene_variant,,ENST00000585423,;PLEKHJ1,upstream_gene_variant,,ENST00000586497,;PLEKHJ1,upstream_gene_variant,,ENST00000588356,;PLEKHJ1,upstream_gene_variant,,ENST00000588450,;PLEKHJ1,upstream_gene_variant,,ENST00000588545,;,regulatory_region_variant,,ENSR00000287015,; T ENSG00000104897 ENST00000221494 Transcript splice_region_variant,intron_variant 1 1 SF3A2 HGNC HGNC:10766 protein_coding YES CCDS12084.1 ENSP00000221494 Q15428 UPI0000135468 NM_007165.4 1/8 LOW 1 SNV 1 PASS GGA . . 2236907 FBN3 . GRCh38 chr19 8129157 8129157 + Splice_Region SNP T T G novel 7316-1790 BS_W75GCHPW T T c.2171-4A>C ENST00000600128 53 37 11 27 23 1 FBN3,splice_region_variant,,ENST00000270509,;FBN3,splice_region_variant,,ENST00000600128,NM_032447.4;FBN3,splice_region_variant,,ENST00000601739,NM_001321431.1; G ENSG00000142449 ENST00000600128 Transcript splice_region_variant,intron_variant 1 -1 FBN3 HGNC HGNC:18794 protein_coding YES CCDS12196.1 ENSP00000470498 Q75N90 UPI000013D88F NM_032447.4 17/63 LOW 1 SNV 1 PASS GTG . . 8129157 CNN1 . GRCh38 chr19 11549392 11549392 + Missense_Mutation SNP C C T 7316-1790 BS_W75GCHPW C C c.571C>T p.Pro191Ser p.P191S ENST00000252456 6/7 63 45 16 30 30 0 CNN1,missense_variant,p.Pro141Ser,ENST00000592923,NM_001308341.1,NM_001308342.1;CNN1,missense_variant,p.Pro191Ser,ENST00000252456,NM_001299.5;CNN1,missense_variant,p.Pro141Ser,ENST00000535659,;CNN1,missense_variant,p.Pro47Ser,ENST00000588935,;CNN1,missense_variant,p.Pro119Ser,ENST00000586577,;CNN1,intron_variant,,ENST00000587087,;CNN1,intron_variant,,ENST00000592338,;ELOF1,downstream_gene_variant,,ENST00000252445,NM_032377.3;CNN1,downstream_gene_variant,,ENST00000586059,;ELOF1,downstream_gene_variant,,ENST00000586120,;ELOF1,downstream_gene_variant,,ENST00000586683,;ELOF1,downstream_gene_variant,,ENST00000587806,;ELOF1,downstream_gene_variant,,ENST00000589171,;ELOF1,downstream_gene_variant,,ENST00000590700,;ELOF1,downstream_gene_variant,,ENST00000591674,;ELOF1,downstream_gene_variant,,ENST00000591912,; T ENSG00000130176 ENST00000252456 Transcript missense_variant 782/1633 571/894 191/297 P/S Ccc/Tcc COSM4995820 1 1 CNN1 HGNC HGNC:2155 protein_coding YES CCDS12263.1 ENSP00000252456 P51911 V9HWA5 UPI0000127AE3 NM_001299.5 deleterious(0.05) benign(0.015) 6/7 hmmpanther:PTHR18959:SF43,hmmpanther:PTHR18959,Prints_domain:PR00889 1 MODERATE 1 SNV 1 1 PASS CCC . . 11549392 CYP4F8 . GRCh38 chr19 15628831 15628831 + Missense_Mutation SNP C C T rs1190402029 7316-1790 BS_W75GCHPW C C c.1385C>T p.Ser462Leu p.S462L ENST00000612078 12/13 47 23 20 39 38 0 CYP4F8,missense_variant,p.Ser462Leu,ENST00000612078,NM_007253.3;CYP4F8,missense_variant,p.Ser75Leu,ENST00000589722,;CYP4F8,intron_variant,,ENST00000589778,;CYP4F8,3_prime_UTR_variant,,ENST00000325723,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000622291,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000590745,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000441682,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589927,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000585349,; T ENSG00000186526 ENST00000612078 Transcript missense_variant 1446/1889 1385/1563 462/520 S/L tCg/tTg rs1190402029 1 1 CYP4F8 HGNC HGNC:2648 protein_coding YES CCDS74303.1 ENSP00000477567 P98187 UPI000012829D NM_007253.3 deleterious(0) probably_damaging(0.982) 12/13 hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF18,PROSITE_patterns:PS00086,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR00385 MODERATE 1 SNV 1 PASS TCG . . 15628831 CYP4F12 . GRCh38 chr19 15696979 15696979 + Missense_Mutation SNP G G T novel 7316-1790 BS_W75GCHPW G G c.1469G>T p.Arg490Leu p.R490L ENST00000550308 13/13 62 43 18 39 39 0 CYP4F12,missense_variant,p.Arg490Leu,ENST00000550308,NM_023944.3;CYP4F12,missense_variant,p.Arg490Leu,ENST00000324632,;CYP4F12,3_prime_UTR_variant,,ENST00000517734,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000546608,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000550627,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000518629,; T ENSG00000186204 ENST00000550308 Transcript missense_variant 1849/2044 1469/1575 490/524 R/L cGg/cTg 1 1 CYP4F12 HGNC HGNC:18857 protein_coding YES CCDS42517.1 ENSP00000448998 A0A0A0MR49 UPI00020B9EFD NM_023944.3 deleterious(0.01) benign(0.438) 13/13 Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF27,Superfamily_domains:SSF48264 MODERATE 1 SNV 1 PASS CGG . . 15696979 GMIP . GRCh38 chr19 19640077 19640077 + Splice_Region SNP C C T novel 7316-1790 BS_W75GCHPW C C c.537+8G>A ENST00000203556 47 33 12 26 25 0 GMIP,splice_region_variant,,ENST00000203556,NM_016573.3;GMIP,splice_region_variant,,ENST00000587238,NM_001288998.1,NM_001288999.1;GMIP,downstream_gene_variant,,ENST00000587205,;GMIP,upstream_gene_variant,,ENST00000593186,;GMIP,upstream_gene_variant,,ENST00000586269,;GMIP,splice_region_variant,,ENST00000588171,;GMIP,splice_region_variant,,ENST00000591047,;GMIP,upstream_gene_variant,,ENST00000587713,; T ENSG00000089639 ENST00000203556 Transcript splice_region_variant,intron_variant 1 -1 GMIP HGNC HGNC:24852 protein_coding YES CCDS12408.1 ENSP00000203556 Q9P107 A0A024R7N1 UPI0000203862 NM_016573.3 7/20 LOW 1 SNV 1 PASS CCC . . 19640077 WTIP . GRCh38 chr19 34482272 34482272 + Missense_Mutation SNP G G T novel 7316-1790 BS_W75GCHPW G G c.298G>T p.Gly100Cys p.G100C ENST00000590071 1/8 52 41 10 38 38 0 WTIP,missense_variant,p.Gly100Cys,ENST00000590071,NM_001080436.1;WTIP,upstream_gene_variant,,ENST00000585928,;,regulatory_region_variant,,ENSR00000108904,; T ENSG00000142279 ENST00000590071 Transcript missense_variant 635/13665 298/1293 100/430 G/C Ggc/Tgc 1 1 WTIP HGNC HGNC:20964 protein_coding YES CCDS59375.1 ENSP00000466953 A6NIX2 UPI00006C19C5 NM_001080436.1 deleterious(0.04) benign(0.007) 1/8 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24219:SF6,hmmpanther:PTHR24219 MODERATE 1 SNV 1 PASS CGG . . 34482272 ZNF570 . GRCh38 chr19 37476403 37476405 + In_Frame_Del DEL GAA GAA - novel 7316-1790 BS_W75GCHPW GAA GAA c.395_397del p.Lys132del p.K132del ENST00000586475 5/6 60 46 9 41 41 0 ZNF570,inframe_deletion,p.Lys76del,ENST00000330173,NM_001321991.1,NM_001321992.1,NM_001321993.1,NM_144694.3,NM_001321994.1;ZNF570,inframe_deletion,p.Lys132del,ENST00000586475,NM_001300993.2;ZNF570,inframe_deletion,p.Lys76del,ENST00000589725,;ZNF570,inframe_deletion,p.Lys34del,ENST00000588644,;ZNF570,inframe_deletion,p.Lys76del,ENST00000590664,; - ENSG00000171827 ENST00000586475 Transcript inframe_deletion 512-514/1985 393-395/1779 131-132/592 VK/V gtGAAg/gtg 1 1 ZNF570 HGNC HGNC:26416 protein_coding YES CCDS74355.1 ENSP00000467218 K7EP39 UPI0001891E4E NM_001300993.2 5/6 PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF212 MODERATE 1 deletion 1 2 PASS GTGAAG . . 37476402 SIGLEC7 . GRCh38 chr19 51142402 51142402 + Missense_Mutation SNP G G T 7316-1790 BS_W75GCHPW G G c.33G>T p.Trp11Cys p.W11C ENST00000317643 1/7 85 45 36 30 30 0 SIGLEC7,missense_variant,p.Trp11Cys,ENST00000317643,NM_014385.3;SIGLEC7,missense_variant,p.Trp11Cys,ENST00000305628,NM_016543.3;SIGLEC7,missense_variant,p.Trp11Cys,ENST00000601682,;SIGLEC7,missense_variant,p.Trp11Cys,ENST00000600577,NM_001277201.1;SIGLEC7,missense_variant,p.Trp11Cys,ENST00000536156,;SIGLEC7,upstream_gene_variant,,ENST00000599250,;,regulatory_region_variant,,ENSR00000111142,;AC063977.1,upstream_gene_variant,,ENST00000600623,;AC063977.2,downstream_gene_variant,,ENST00000601996,; T ENSG00000168995 ENST00000317643 Transcript missense_variant 102/1754 33/1404 11/467 W/C tgG/tgT COSM5968496,COSM1730836 1 1 SIGLEC7 HGNC HGNC:10876 protein_coding YES CCDS12826.1 ENSP00000323328 Q9Y286 UPI000011B40B NM_014385.3 deleterious(0) probably_damaging(0.921) 1/7 hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF101,Cleavage_site_(Signalp):SignalP-noTM 1,1 MODERATE 1 SNV 1 1,1 PASS GGG . . 51142402 SEL1L2 . GRCh38 chr20 13849525 13849525 + Missense_Mutation SNP A A G novel 7316-1790 BS_W75GCHPW A A c.1688T>C p.Val563Ala p.V563A ENST00000378072 18/18 101 88 13 35 35 0 SEL1L2,missense_variant,p.Val676Ala,ENST00000284951,;SEL1L2,missense_variant,p.Val433Ala,ENST00000646153,;SEL1L2,missense_variant,p.Val563Ala,ENST00000378072,NM_001271539.1;SEL1L2,non_coding_transcript_exon_variant,,ENST00000482196,;SEL1L2,downstream_gene_variant,,ENST00000492548,;SEL1L2,3_prime_UTR_variant,,ENST00000423870,;SEL1L2,3_prime_UTR_variant,,ENST00000486903,;SEL1L2,3_prime_UTR_variant,,ENST00000475649,; G ENSG00000101251 ENST00000378072 Transcript missense_variant 1770/1892 1688/1728 563/575 V/A gTt/gCt 1 -1 SEL1L2 HGNC HGNC:15897 protein_coding YES CCDS59443.1 ENSP00000367312 Q5TEA6 UPI000003BCBF NM_001271539.1 tolerated_low_confidence(0.35) benign(0.034) 18/18 hmmpanther:PTHR11102,hmmpanther:PTHR11102:SF53,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS AAC . . 13849525 ZNFX1 . GRCh38 chr20 49263345 49263345 + Missense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.2290G>A p.Gly764Arg p.G764R ENST00000396105 6/14 100 76 19 40 40 0 ZNFX1,missense_variant,p.Gly764Arg,ENST00000396105,NM_021035.2;ZNFX1,missense_variant,p.Gly764Arg,ENST00000371752,;ZNFX1,missense_variant,p.Gly764Arg,ENST00000371754,;ZNFX1,missense_variant,p.Gly764Arg,ENST00000371744,;ZNFX1,missense_variant,p.Gly568Arg,ENST00000455070,; T ENSG00000124201 ENST00000396105 Transcript missense_variant 2537/7371 2290/5757 764/1918 G/R Gga/Aga 1 -1 ZNFX1 HGNC HGNC:29271 protein_coding YES CCDS13417.1 ENSP00000379412 Q9P2E3 UPI000012DD83 NM_021035.2 tolerated(0.24) possibly_damaging(0.901) 6/14 Gene3D:3.40.50.300,Pfam_domain:PF13086,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF341 MODERATE 1 SNV 1 PASS CCA . . 49263345 TXNRD2 . GRCh38 chr22 19878445 19878445 + Splice_Region SNP C C G novel 7316-1790 BS_W75GCHPW C C c.1276-8G>C ENST00000400521 55 37 14 36 36 0 TXNRD2,splice_region_variant,,ENST00000400518,NM_001352301.1;TXNRD2,splice_region_variant,,ENST00000400519,NM_001352300.1;TXNRD2,splice_region_variant,,ENST00000400521,NM_006440.4;TXNRD2,splice_region_variant,,ENST00000400525,;TXNRD2,splice_region_variant,,ENST00000462330,;TXNRD2,splice_region_variant,,ENST00000485358,;TXNRD2,splice_region_variant,,ENST00000542719,NM_001352302.1;TXNRD2,splice_region_variant,,ENST00000462843,;TXNRD2,splice_region_variant,,ENST00000474308,;TXNRD2,splice_region_variant,,ENST00000487165,;TXNRD2,splice_region_variant,,ENST00000494454,;TXNRD2,splice_region_variant,,ENST00000495655,;TXNRD2,splice_region_variant,,ENST00000634471,;TXNRD2,splice_region_variant,,ENST00000634537,;,regulatory_region_variant,,ENSR00000143810,; G ENSG00000184470 ENST00000400521 Transcript splice_region_variant,intron_variant 1 -1 TXNRD2 HGNC HGNC:18155 protein_coding YES CCDS42981.1 ENSP00000383365 Q9NNW7 UPI0000167BDD NM_006440.4 14/17 LOW 1 SNV 1 1 PASS ACA . . 19878445 SLC5A1 . GRCh38 chr22 32081905 32081905 + Frame_Shift_Del DEL T T - 7316-1790 BS_W75GCHPW T T c.518del p.Leu173Ter p.L173* ENST00000266088 6/15 53 35 9 28 25 0 SLC5A1,frameshift_variant,p.Leu173Ter,ENST00000266088,NM_000343.3;SLC5A1,frameshift_variant,p.Leu46Ter,ENST00000543737,NM_001256314.1;SLC5A1,upstream_gene_variant,,ENST00000477969,;SLC5A1,upstream_gene_variant,,ENST00000486394,; - ENSG00000100170 ENST00000266088 Transcript frameshift_variant 767/5061 517/1995 173/664 L/X Tta/ta COSM5494195 1 1 SLC5A1 HGNC HGNC:11036 protein_coding YES CCDS13902.1 ENSP00000266088 P13866 UPI00001359EA NM_000343.3 6/15 Low_complexity_(Seg):seg,PROSITE_profiles:PS50283,cd11486,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF151,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813 1 HIGH 1 deletion 1 1 1 1 PASS CCTT . . 32081904 XPNPEP3 . GRCh38 chr22 40857184 40857184 + Translation_Start_Site SNP G G A 7316-1790 BS_W75GCHPW G G c.3G>A p.Met1? p.M1? ENST00000357137 1/10 39 23 15 38 38 0 XPNPEP3,start_lost,p.Met1?,ENST00000357137,NM_022098.3;XPNPEP3,start_lost,p.Met1?,ENST00000614001,NM_001204827.1;ST13,upstream_gene_variant,,ENST00000216218,NM_003932.4,NM_001278589.1;DNAJB7,downstream_gene_variant,,ENST00000307221,NM_145174.1;ST13,upstream_gene_variant,,ENST00000411695,;ST13,upstream_gene_variant,,ENST00000620312,;XPNPEP3,non_coding_transcript_exon_variant,,ENST00000482652,;XPNPEP3,start_lost,p.Met1?,ENST00000428799,;XPNPEP3,non_coding_transcript_exon_variant,,ENST00000417688,;ST13,upstream_gene_variant,,ENST00000455824,;,regulatory_region_variant,,ENSR00000301960,; A ENSG00000196236 ENST00000357137 Transcript start_lost 87/7988 3/1524 1/507 M/I atG/atA COSM1416453 1 1 XPNPEP3 HGNC HGNC:28052 protein_coding YES CCDS14007.1 ENSP00000349658 Q9NQH7 UPI00000401E0 NM_022098.3 deleterious_low_confidence(0) benign(0.014) 1/10 1 HIGH 1 SNV 1 1 1 PASS TGC . . 40857184 IQSEC2 . GRCh38 chrX 53250332 53250332 + Missense_Mutation SNP G G C novel 7316-1790 BS_W75GCHPW G G c.2244C>G p.Asn748Lys p.N748K ENST00000642864 5/15 70 50 18 36 36 0 IQSEC2,missense_variant,p.Asn748Lys,ENST00000642864,;IQSEC2,missense_variant,p.Asn748Lys,ENST00000396435,NM_001111125.2;IQSEC2,missense_variant,p.Asn748Lys,ENST00000640694,;IQSEC2,missense_variant,p.Asn66Lys,ENST00000638521,;IQSEC2,missense_variant,p.Asn543Lys,ENST00000375365,NM_015075.1;IQSEC2,downstream_gene_variant,,ENST00000638630,;IQSEC2,upstream_gene_variant,,ENST00000638869,;IQSEC2,upstream_gene_variant,,ENST00000639642,; C ENSG00000124313 ENST00000642864 Transcript missense_variant 2471/6037 2244/4467 748/1488 N/K aaC/aaG 1 -1 IQSEC2 HGNC HGNC:29059 protein_coding YES CCDS48130.1 ENSP00000495726 UPI00001C207D deleterious(0.01) benign(0.245) 5/15 Gene3D:1.10.220.20,PROSITE_profiles:PS50190,hmmpanther:PTHR44233,hmmpanther:PTHR44233:SF1 MODERATE 1 SNV 1 PASS TGT . . 53250332 ALAS2 . GRCh38 chrX 55014832 55014832 + Missense_Mutation SNP T T A novel 7316-1790 BS_W75GCHPW T T c.1352A>T p.Gln451Leu p.Q451L ENST00000330807 9/11 72 46 23 36 36 0 ALAS2,missense_variant,p.Gln451Leu,ENST00000330807,NM_000032.4;ALAS2,missense_variant,p.Gln438Leu,ENST00000396198,NM_001037968.3;ALAS2,missense_variant,p.Gln414Leu,ENST00000335854,NM_001037967.3;ALAS2,missense_variant,p.Gln215Leu,ENST00000498636,;ALAS2,downstream_gene_variant,,ENST00000477869,;ALAS2,downstream_gene_variant,,ENST00000493869,;ALAS2,downstream_gene_variant,,ENST00000463868,; A ENSG00000158578 ENST00000330807 Transcript missense_variant 1490/2027 1352/1764 451/587 Q/L cAg/cTg 1 -1 ALAS2 HGNC HGNC:397 protein_coding YES CCDS14366.1 ENSP00000332369 P22557 UPI000012C3FE NM_000032.4 deleterious(0) probably_damaging(0.994) 9/11 cd06454,hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF58,Pfam_domain:PF00155,Gene3D:3.90.1150.10,TIGRFAM_domain:TIGR01821,Superfamily_domains:SSF53383 MODERATE 1 SNV 1 1 PASS CTG . . 55014832 KIF4A . GRCh38 chrX 70407040 70407040 + Missense_Mutation SNP A A G novel 7316-1790 BS_W75GCHPW A A c.3220A>G p.Lys1074Glu p.K1074E ENST00000374403 28/31 102 82 20 28 27 0 KIF4A,missense_variant,p.Lys1074Glu,ENST00000374403,NM_012310.4; G ENSG00000090889 ENST00000374403 Transcript missense_variant 3302/4348 3220/3699 1074/1232 K/E Aaa/Gaa 1 1 KIF4A HGNC HGNC:13339 protein_coding YES CCDS14401.1 ENSP00000363524 O95239 UPI000013D32A NM_012310.4 deleterious(0.03) benign(0.416) 28/31 hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF748 MODERATE 1 SNV 1 1 PASS AAA . . 70407040 CHRDL1 . GRCh38 chrX 110679392 110679392 + Missense_Mutation SNP G G C novel 7316-1790 BS_W75GCHPW G G c.1190C>G p.Ser397Cys p.S397C ENST00000372042 11/12 71 52 18 31 31 0 CHRDL1,missense_variant,p.Ser389Cys,ENST00000372045,;CHRDL1,missense_variant,p.Ser395Cys,ENST00000394797,NM_145234.3;CHRDL1,missense_variant,p.Ser397Cys,ENST00000372042,NM_001143981.1;CHRDL1,missense_variant,p.Ser396Cys,ENST00000444321,NM_001143982.1;CHRDL1,missense_variant,p.Ser317Cys,ENST00000482160,NM_001143983.2; C ENSG00000101938 ENST00000372042 Transcript missense_variant 1292/1934 1190/1377 397/458 S/C tCc/tGc 1 -1 CHRDL1 HGNC HGNC:29861 protein_coding YES CCDS48149.1 ENSP00000361112 Q9BU40 UPI0000367765 NM_001143981.1 deleterious(0.01) possibly_damaging(0.753) 11/12 MODERATE 1 SNV 2 1 PASS GGA . . 110679392 UBE2A . GRCh38 chrX 119582683 119582688 + Splice_Region DEL TTTTCC TTTTCC - novel 7316-1790 BS_W75GCHPW TTTTCC TTTTCC c.330+9_330+14del ENST00000371558 82 52 20 41 41 0 UBE2A,splice_region_variant,,ENST00000346330,;UBE2A,splice_region_variant,,ENST00000371558,NM_003336.3;UBE2A,splice_region_variant,,ENST00000625938,NM_181762.2;UBE2A,splice_region_variant,,ENST00000628549,NM_001282161.1;UBE2A,splice_region_variant,,ENST00000630695,;UBE2A,splice_region_variant,,ENST00000631185,;UBE2A,splice_region_variant,,ENST00000371569,;UBE2A,splice_region_variant,,ENST00000628734,;UBE2A,downstream_gene_variant,,ENST00000629303,; - ENSG00000077721 ENST00000371558 Transcript splice_region_variant,intron_variant 1 1 UBE2A HGNC HGNC:12472 protein_coding YES CCDS14580.1 ENSP00000360613 P49459 UPI00000043A0 NM_003336.3 5/5 LOW 1 deletion 1 2 1 PASS ATTTTTCCT . . 119582682 GPR101 . GRCh38 chrX 137030937 137030937 + Missense_Mutation SNP A A T novel 7316-1790 BS_W75GCHPW A A c.738T>A p.Asp246Glu p.D246E ENST00000298110 1/1 75 51 19 43 42 1 GPR101,missense_variant,p.Asp246Glu,ENST00000298110,NM_054021.1; T ENSG00000165370 ENST00000298110 Transcript missense_variant 738/1527 738/1527 246/508 D/E gaT/gaA 1 -1 GPR101 HGNC HGNC:14963 protein_coding YES CCDS14662.1 ENSP00000298110 Q96P66 UPI000003BCCD NM_054021.1 tolerated(0.12) benign(0.006) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF2,cd15215,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAT . . 137030937 MPP1 . GRCh38 chrX 154790020 154790020 + Splice_Region SNP T T C novel 7316-1790 BS_W75GCHPW T T c.414A>G p.Lys138= p.K138= ENST00000369534 5/12 98 87 10 32 32 0 MPP1,splice_region_variant,p.Lys108=,ENST00000413259,NM_001166462.1;MPP1,splice_region_variant,p.Lys138=,ENST00000369534,NM_002436.3,NM_001166460.1;MPP1,splice_region_variant,p.Lys138=,ENST00000393531,NM_001166461.1;MPP1,splice_region_variant,p.Lys92=,ENST00000393529,;MPP1,splice_region_variant,p.Lys35=,ENST00000428488,;MPP1,splice_region_variant,p.Lys121=,ENST00000369531,;MPP1,intron_variant,,ENST00000453245,;MPP1,splice_region_variant,,ENST00000488754,;MPP1,splice_region_variant,,ENST00000488694,;MPP1,intron_variant,,ENST00000462825,;MPP1,downstream_gene_variant,,ENST00000471821,;MPP1,splice_region_variant,,ENST00000439370,;MPP1,splice_region_variant,,ENST00000417435,;MPP1,intron_variant,,ENST00000475943,;MPP1,intron_variant,,ENST00000494170,;MPP1,upstream_gene_variant,,ENST00000493871,; C ENSG00000130830 ENST00000369534 Transcript splice_region_variant,synonymous_variant 562/2042 414/1401 138/466 K aaA/aaG 1 -1 MPP1 HGNC HGNC:7219 protein_coding YES CCDS14762.1 ENSP00000358547 Q00013 UPI0000129E86 NM_002436.3,NM_001166460.1 5/12 Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF37,SMART_domains:SM00228,Superfamily_domains:SSF50044,Superfamily_domains:SSF50156,cd00992 LOW 1 SNV 1 PASS CTT . . 154790020 MT-ATP6 . GRCh38 chrM 8654 8654 + Missense_Mutation SNP T C C rs200811540 7316-1790 BS_W75GCHPW T T c.128T>C p.Ile43Thr p.I43T ENST00000361899 1/1 13311 461 12289 4588 3775 728 MT-ATP6,missense_variant,p.Ile43Thr,ENST00000361899,;MT-ND3,upstream_gene_variant,,ENST00000361227,;MT-ND4L,upstream_gene_variant,,ENST00000361335,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND1,downstream_gene_variant,,ENST00000361390,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-CO3,upstream_gene_variant,,ENST00000362079,;MT-TI,downstream_gene_variant,,ENST00000387365,;MT-TQ,upstream_gene_variant,,ENST00000387372,;MT-TM,downstream_gene_variant,,ENST00000387377,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,upstream_gene_variant,,ENST00000387429,;MT-TR,upstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,; C ENSG00000198899 ENST00000361899 Transcript missense_variant 128/681 128/681 43/226 I/T aTc/aCc rs200811540 1 1 MT-ATP6 HGNC HGNC:7414 protein_coding YES ENSP00000354632 P00846 Q0ZFE3 UPI0000001709 tolerated(0.52) benign(0.191) 1/1 Gene3D:1.20.120.220,Pfam_domain:PF00119,hmmpanther:PTHR11410,TIGRFAM_domain:TIGR01131 MODERATE 1 SNV 1 PASS ATC . . 8654 MT-CYB . GRCh38 chrM 15264 15264 + Missense_Mutation SNP C C T novel 7316-1790 BS_W75GCHPW C C c.518C>T p.Pro173Leu p.P173L ENST00000361789 1/1 12551 11718 505 4128 4059 6 MT-CYB,missense_variant,p.Pro173Leu,ENST00000361789,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND5,downstream_gene_variant,,ENST00000361567,;MT-ND6,upstream_gene_variant,,ENST00000361681,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,upstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339372,;,TF_binding_site_variant,,PB0114.1,; T ENSG00000198727 ENST00000361789 Transcript missense_variant 518/1141 518/1141 173/380 P/L cCc/cTc 1 1 MT-CYB HGNC HGNC:7427 protein_coding YES ENSP00000354554 P00156 Q0ZFD6 UPI0000DA7DCA deleterious_low_confidence(0) benign(0.393) 1/1 PDB-ENSP_mappings:5xte.J,PDB-ENSP_mappings:5xte.V,PDB-ENSP_mappings:5xth.AJ,PDB-ENSP_mappings:5xth.AV,PDB-ENSP_mappings:5xti.AJ,PDB-ENSP_mappings:5xti.AV,PROSITE_profiles:PS51002,cd00284,hmmpanther:PTHR19271,Pfam_domain:PF00033,Gene3D:1.20.810.10,PIRSF_domain:PIRSF038885,Superfamily_domains:SSF81342 MODERATE 1 SNV 1 PASS CCC . . 15264 PRAMEF19 . GRCh38 chr1 13371223 13371223 + Missense_Mutation SNP A A G rs879250200 7316-2187 BS_M28J7CGM A A c.85T>C p.Trp29Arg p.W29R ENST00000376101 2/3 47 34 11 32 30 1 PRAMEF19,missense_variant,p.Trp29Arg,ENST00000376101,NM_001099790.2; G ENSG00000204480 ENST00000376101 Transcript missense_variant 85/1233 85/1233 29/410 W/R Tgg/Cgg rs879250200 1 -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8 UPI0001661E5E NM_001099790.2 deleterious(0.04) benign(0.007) 2/3 PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF76 MODERATE 1 SNV 5 PASS CAC . . 13371223 LRRC41 . GRCh38 chr1 46286388 46286388 + Missense_Mutation SNP G G A novel 7316-2187 BS_M28J7CGM G G c.469C>T p.Leu157Phe p.L157F ENST00000617190 4/10 60 55 5 30 29 0 LRRC41,missense_variant,p.Leu157Phe,ENST00000617190,;LRRC41,missense_variant,p.Leu157Phe,ENST00000343304,NM_006369.4;LRRC41,missense_variant,p.Leu135Phe,ENST00000615587,;LRRC41,upstream_gene_variant,,ENST00000617760,;LRRC41,missense_variant,p.Leu47Phe,ENST00000472710,;LRRC41,missense_variant,p.Leu135Phe,ENST00000498402,;,regulatory_region_variant,,ENSR00000005943,; A ENSG00000132128 ENST00000617190 Transcript missense_variant 755/4128 469/2439 157/812 L/F Ctt/Ttt 1 -1 LRRC41 HGNC HGNC:16917 protein_coding YES CCDS533.1 ENSP00000477792 Q15345 UPI0000225CC7 deleterious(0.01) probably_damaging(0.998) 4/10 hmmpanther:PTHR15354,Gene3D:3.80.10.10 MODERATE 1 SNV 1 PASS AGA . . 46286388 RPTN . GRCh38 chr1 152155878 152155878 + Missense_Mutation SNP C C G rs374167664 7316-2187 BS_M28J7CGM C C c.1221G>C p.Glu407Asp p.E407D ENST00000316073 3/3 50 41 6 20 19 0 RPTN,missense_variant,p.Glu407Asp,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; G ENSG00000215853 ENST00000316073 Transcript missense_variant 1286/3569 1221/2355 407/784 E/D gaG/gaC rs374167664,COSM5037810 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0,1 MODERATE 1 SNV 1 0,1 PASS TCT . . 8.154e-06 6.558e-05 5.811e-05 152155878 EGLN1 . GRCh38 chr1 231421667 231421667 + Missense_Mutation SNP A A C novel 7316-2187 BS_M28J7CGM A A c.222T>G p.His74Gln p.H74Q ENST00000366641 1/5 44 32 10 27 23 3 EGLN1,missense_variant,p.His74Gln,ENST00000366641,NM_022051.2;EGLN1,upstream_gene_variant,,ENST00000476717,;,regulatory_region_variant,,ENSR00000021720,; C ENSG00000135766 ENST00000366641 Transcript missense_variant 3378/7097 222/1281 74/426 H/Q caT/caG 1 -1 EGLN1 HGNC HGNC:1232 protein_coding YES CCDS1595.1 ENSP00000355601 Q9GZT9 R4SCQ0 UPI0000050C90 NM_022051.2 tolerated(0.71) benign(0) 1/5 mobidb-lite,hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF4,Gene3D:3.90.1410.10 MODERATE 1 SNV 1 1 PASS AAT . . 231421667 TIA1 . GRCh38 chr2 70229320 70229321 + Splice_Region INS - - A rs750862626 7316-2187 BS_M28J7CGM - - c.223-3dup ENST00000433529 43 32 9 16 16 0 TIA1,splice_region_variant,,ENST00000282574,;TIA1,splice_region_variant,,ENST00000361692,;TIA1,splice_region_variant,,ENST00000415783,NM_022037.2,NM_001351514.1,NM_001351510.1,NM_001351513.1,NM_001351509.1,NM_001351512.1;TIA1,splice_region_variant,,ENST00000416149,;TIA1,splice_region_variant,,ENST00000433529,NM_022173.2,NM_001351508.1,NM_001351511.1,NM_001351524.1;TIA1,splice_region_variant,,ENST00000445587,;TIA1,upstream_gene_variant,,ENST00000454815,;C2orf42,intron_variant,,ENST00000470096,;TIA1,upstream_gene_variant,,ENST00000482876,;TIA1,splice_region_variant,,ENST00000474809,;TIA1,splice_region_variant,,ENST00000477044,;TIA1,splice_region_variant,,ENST00000481650,;TIA1,splice_region_variant,,ENST00000496452,;TIA1,upstream_gene_variant,,ENST00000474699,;TIA1,upstream_gene_variant,,ENST00000477415,;TIA1,upstream_gene_variant,,ENST00000496096,; A ENSG00000116001 ENST00000433529 Transcript splice_region_variant,intron_variant rs750862626 1 -1 TIA1 HGNC HGNC:11802 protein_coding YES CCDS1901.1 ENSP00000401371 P31483 UPI0000410EF5 NM_022173.2,NM_001351508.1,NM_001351511.1,NM_001351524.1 3/12 LOW 1 insertion 2 1 PASS CTA . . 0.04037 0.02578 0.06109 0.07292 0.03043 0.04578 0.03238 0.05814 0.0569 70229320 TRANK1 . GRCh38 chr3 36855293 36855293 + Missense_Mutation SNP G G A rs748404500 7316-2187 BS_M28J7CGM G G c.4297C>T p.Arg1433Cys p.R1433C ENST00000429976 12/23 50 43 7 24 22 0 TRANK1,missense_variant,p.Arg1477Cys,ENST00000645898,NM_001329998.1;TRANK1,missense_variant,p.Arg1433Cys,ENST00000429976,NM_014831.2;TRANK1,upstream_gene_variant,,ENST00000463984,;TRANK1,missense_variant,p.Arg1469Cys,ENST00000646897,;TRANK1,missense_variant,p.Arg781Cys,ENST00000643881,;TRANK1,missense_variant,p.Arg452Cys,ENST00000646436,; A ENSG00000168016 ENST00000429976 Transcript missense_variant 4545/10481 4297/8778 1433/2925 R/C Cgc/Tgc rs748404500 1 -1 TRANK1 HGNC HGNC:29011 protein_coding YES CCDS46789.2 ENSP00000416168 O15050 UPI00017BE82B NM_014831.2 deleterious(0) probably_damaging(0.999) 12/23 Gene3D:3.40.50.300,hmmpanther:PTHR21529,Superfamily_domains:SSF52540 MODERATE 1 SNV 5 PASS CGG . . 1.626e-05 2.691e-05 3.249e-05 36855293 MUC4 . GRCh38 chr3 195784940 195784940 + Missense_Mutation SNP G G C 7316-2187 BS_M28J7CGM G G c.6640C>G p.Pro2214Ala p.P2214A ENST00000463781 2/25 90 64 10 22 20 0 MUC4,missense_variant,p.Pro2214Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2214Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2214Ala,ENST00000478156,;MUC4,missense_variant,p.Pro2214Ala,ENST00000466475,;MUC4,missense_variant,p.Pro2214Ala,ENST00000477756,;MUC4,missense_variant,p.Pro2214Ala,ENST00000477086,;MUC4,missense_variant,p.Pro2214Ala,ENST00000480843,;MUC4,missense_variant,p.Pro2214Ala,ENST00000462323,;MUC4,missense_variant,p.Pro2214Ala,ENST00000470451,;MUC4,missense_variant,p.Pro2214Ala,ENST00000479406,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 7100/17110 6640/16239 2214/5412 P/A Cct/Gct COSM2945825,COSM2945823 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.19) possibly_damaging(0.55) 2/25 mobidb-lite,hmmpanther:PTHR42668 1,1 MODERATE 1 SNV 5 1,1 1 PASS GGG . . 195784940 TMEM165 . GRCh38 chr4 55396254 55396254 + Missense_Mutation SNP T T G novel 7316-2187 BS_M28J7CGM T T c.65T>G p.Val22Gly p.V22G ENST00000381334 1/6 69 57 10 28 26 1 TMEM165,missense_variant,p.Val22Gly,ENST00000381334,NM_018475.4;TMEM165,missense_variant,p.Val22Gly,ENST00000506198,;SRD5A3-AS1,upstream_gene_variant,,ENST00000592823,;SRD5A3-AS1,upstream_gene_variant,,ENST00000598819,;SRD5A3-AS1,upstream_gene_variant,,ENST00000599135,;SRD5A3-AS1,upstream_gene_variant,,ENST00000601433,;TMEM165,non_coding_transcript_exon_variant,,ENST00000514070,;TMEM165,upstream_gene_variant,,ENST00000511710,;TMEM165,missense_variant,p.Val22Gly,ENST00000508404,;SRD5A3-AS1,upstream_gene_variant,,ENST00000608136,;,regulatory_region_variant,,ENSR00000168595,; G ENSG00000134851 ENST00000381334 Transcript missense_variant 298/1928 65/975 22/324 V/G gTt/gGt 1 1 TMEM165 HGNC HGNC:30760 protein_coding YES CCDS3499.1 ENSP00000370736 Q9HC07 UPI0000035F63 NM_018475.4 deleterious_low_confidence(0) benign(0.036) 1/6 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS GTT . . 55396254 CAST . GRCh38 chr5 96662494 96662494 + Missense_Mutation SNP T T G novel 7316-2187 BS_M28J7CGM T T c.72T>G p.His24Gln p.H24Q ENST00000395812 1/30 74 54 14 27 25 2 CAST,missense_variant,p.His24Gln,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Gln,ENST00000508830,;CAST,missense_variant,p.His24Gln,ENST00000510756,;CAST,missense_variant,p.His24Gln,ENST00000511097,;CAST,missense_variant,p.His24Gln,ENST00000421689,;CAST,missense_variant,p.His7Gln,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; G ENSG00000153113 ENST00000395812 Transcript missense_variant 258/4506 72/2253 24/750 H/Q caT/caG 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 tolerated_low_confidence(1) benign(0) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS ATG . . 96662494 ADAMTS2 . GRCh38 chr5 179124998 179124998 + Missense_Mutation SNP C C T rs201998372 7316-2187 BS_M28J7CGM C C c.2933G>A p.Arg978His p.R978H ENST00000251582 19/22 66 56 8 26 23 0 ADAMTS2,missense_variant,p.Arg978His,ENST00000251582,NM_014244.4;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;ADAMTS2,upstream_gene_variant,,ENST00000523450,; T ENSG00000087116 ENST00000251582 Transcript missense_variant 3035/6754 2933/3636 978/1211 R/H cGt/cAt rs201998372,COSM3011343 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 deleterious(0.05) benign(0) 19/22 Gene3D:2.20.100.10,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,SMART_domains:SM00209,Superfamily_domains:SSF82895 0.0010 0.0008 0.0058 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACG . . 6.621e-05 0.0001409 0.0001471 1.868e-05 0.001017 7.313e-05 179124998 HLA-DRB5 . GRCh38 chr6 32530124 32530124 + Splice_Site SNP C C G rs79192142 7316-2187 BS_M28J7CGM C C c.100+1G>C p.X34_splice ENST00000374975 41 33 7 17 17 0 HLA-DRB5,splice_donor_variant,,ENST00000374975,NM_002125.3; G ENSG00000198502 ENST00000374975 Transcript splice_donor_variant rs79192142,COSM4003987,COSM3774241 1 -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154 UPI000008AF56 NM_002125.3 1/5 0,1,1 HIGH 1 SNV 0,1,1 PASS ACG . . 5.516e-06 1.174e-05 32530124 HLA-DRB5 . GRCh38 chr6 32530133 32530133 + Missense_Mutation SNP T T C rs139583918 7316-2187 BS_M28J7CGM T T c.92A>G p.Asp31Gly p.D31G ENST00000374975 1/6 43 35 7 18 18 0 HLA-DRB5,missense_variant,p.Asp31Gly,ENST00000374975,NM_002125.3; C ENSG00000198502 ENST00000374975 Transcript missense_variant 155/1260 92/801 31/266 D/G gAc/gGc rs139583918,COSM5763311 1 -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154 UPI000008AF56 NM_002125.3 deleterious(0.03) probably_damaging(0.996) 1/6 PDB-ENSP_mappings:1fv1.B,PDB-ENSP_mappings:1fv1.E,PDB-ENSP_mappings:1h15.B,PDB-ENSP_mappings:1h15.E,PDB-ENSP_mappings:1hqr.B,PDB-ENSP_mappings:1zgl.B,PDB-ENSP_mappings:1zgl.E,PDB-ENSP_mappings:1zgl.H,PDB-ENSP_mappings:1zgl.K,Gene3D:3.10.320.10,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF84,Superfamily_domains:SSF54452 0,1 MODERATE 1 SNV 0,1 PASS GTC . . 32530133 ARID1B . GRCh38 chr6 156779364 156779364 + Missense_Mutation SNP A A C novel 7316-2187 BS_M28J7CGM A A c.1435A>C p.Met479Leu p.M479L ENST00000346085 1/20 52 41 9 13 11 0 ARID1B,missense_variant,p.Met479Leu,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Met479Leu,ENST00000636930,;ARID1B,missense_variant,p.Met479Leu,ENST00000350026,NM_017519.2;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000604082,;MIR4466,downstream_gene_variant,,ENST00000606121,;AL355297.4,upstream_gene_variant,,ENST00000603191,;AL355297.2,downstream_gene_variant,,ENST00000604792,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; C ENSG00000049618 ENST00000346085 Transcript missense_variant 1991/10194 1435/6750 479/2249 M/L Atg/Ctg 1 1 ARID1B HGNC HGNC:18040 protein_coding YES CCDS55072.1 ENSP00000344546 Q8NFD5 UPI000058E4B2 NM_020732.3 tolerated_low_confidence(0.41) benign(0) 1/20 hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:3.40.50.1980 MODERATE 1 SNV 1 1 PASS CAT . . 156779364 MUC17 . GRCh38 chr7 101038666 101038666 + Missense_Mutation SNP A A T rs139220229 7316-2187 BS_M28J7CGM A A c.7250A>T p.His2417Leu p.H2417L ENST00000306151 3/13 79 65 11 31 29 0 MUC17,missense_variant,p.His2417Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.His2417Leu,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 7314/14247 7250/13482 2417/4493 H/L cAt/cTt rs139220229,COSM4161663 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 1.736e-05 0.0001985 9.3e-06 101038666 PRSS3P1 . GRCh38 chr7 142763495 142763495 + Splice_Region SNP G G A rs56225909 7316-2187 BS_M28J7CGM G G n.591+4G>A ENST00000503996 52 44 8 27 27 0 PRSS2,intron_variant,,ENST00000632998,;PRSS3P1,splice_region_variant,,ENST00000503996,; A ENSG00000250591 ENST00000503996 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs56225909 1 1 PRSS3P1 HGNC HGNC:43787 unprocessed_pseudogene YES 4/4 0.3241 0.0908 0.5101 0.2321 0.5905 0.3282 LOW 1 SNV PASS GGT . . 142763495 COL22A1 . GRCh38 chr8 138594083 138594083 + Missense_Mutation SNP T T G novel 7316-2187 BS_M28J7CGM T T c.4549A>C p.Met1517Leu p.M1517L ENST00000303045 63/65 53 44 9 24 23 0 COL22A1,missense_variant,p.Met1517Leu,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Met1210Leu,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,; G ENSG00000169436 ENST00000303045 Transcript missense_variant 4996/6346 4549/4881 1517/1626 M/L Atg/Ctg 1 -1 COL22A1 HGNC HGNC:22989 protein_coding YES CCDS6376.1 ENSP00000303153 Q8NFW1 UPI00001C1EA1 NM_152888.2 tolerated(0.44) benign(0.006) 63/65 mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF845,Pfam_domain:PF01391,Gene3D:2.160.20.50 MODERATE 1 SNV 1 PASS ATG . . 138594083 MKI67 . GRCh38 chr10 128106848 128106849 + Frame_Shift_Del DEL TG TG - rs145960091 7316-2187 BS_M28J7CGM TG TG c.4991_4992del p.Thr1664ArgfsTer7 p.T1664Rfs*7 ENST00000368654 13/15 56 43 5 28 25 0 MKI67,frameshift_variant,p.Thr1664ArgfsTer7,ENST00000368654,NM_002417.4;MKI67,frameshift_variant,p.Thr1304ArgfsTer7,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;MKI67,downstream_gene_variant,,ENST00000484853,; - ENSG00000148773 ENST00000368654 Transcript frameshift_variant 5367-5368/12678 4991-4992/9771 1664/3256 T/X aCA/a rs145960091,COSM916119,COSM1579635 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 13/15 Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 HIGH 1 deletion 2 0,1,1 PASS TCTGT . . 0.0001637 0.0002609 0.000287 0.0002111 3.866e-05 128106847 CLUHP5 . GRCh38 chr10 133660323 133660323 + Splice_Region SNP T T A rs879308890 7316-2187 BS_M28J7CGM T T n.217A>T ENST00000438421 2/8 56 47 8 29 29 0 CLUHP5,splice_region_variant,,ENST00000438421,;DUX4L28,upstream_gene_variant,,ENST00000623687,; A ENSG00000230468 ENST00000438421 Transcript splice_region_variant,non_coding_transcript_exon_variant 217/774 rs879308890 1 -1 CLUHP5 HGNC HGNC:38471 unprocessed_pseudogene YES 2/8 LOW 1 SNV PASS ATG . . 133660323 DAGLA . GRCh38 chr11 61680507 61680507 + Splice_Region SNP A A C novel 7316-2187 BS_M28J7CGM A A c.-45+3A>C ENST00000257215 60 51 7 22 21 0 DAGLA,splice_region_variant,,ENST00000257215,NM_006133.2;DAGLA,splice_region_variant,,ENST00000540717,;,regulatory_region_variant,,ENSR00000040315,; C ENSG00000134780 ENST00000257215 Transcript splice_region_variant,intron_variant 1 1 DAGLA HGNC HGNC:1165 protein_coding YES CCDS31578.1 ENSP00000257215 Q9Y4D2 A0A024R517 UPI00001678B3 NM_006133.2 1/19 LOW 1 SNV 1 PASS TAA . . 61680507 CAPN5 . GRCh38 chr11 77067096 77067096 + Splice_Site SNP T T G novel 7316-2187 BS_M28J7CGM T T c.-36+2T>G ENST00000278559 87 70 14 26 23 1 CAPN5,splice_donor_variant,,ENST00000278559,NM_004055.4;CAPN5,splice_donor_variant,,ENST00000456580,;CAPN5,splice_donor_variant,,ENST00000527066,;CAPN5,splice_donor_variant,,ENST00000529629,;CAPN5,splice_donor_variant,,ENST00000531028,;,regulatory_region_variant,,ENSR00000042393,;,TF_binding_site_variant,,MA0139.1,; G ENSG00000149260 ENST00000278559 Transcript splice_donor_variant 1 1 CAPN5 HGNC HGNC:1482 protein_coding YES CCDS8248.1 ENSP00000278559 O15484 A0A140VKH4 UPI0000126E9F NM_004055.4 1/12 HIGH 1 SNV 1 1 PASS GTA . . 77067096 TROAP . GRCh38 chr12 49330620 49330620 + Missense_Mutation SNP A A G rs774791257 7316-2187 BS_M28J7CGM A A c.1775A>G p.Tyr592Cys p.Y592C ENST00000257909 13/15 63 52 5 31 31 0 TROAP,missense_variant,p.Tyr592Cys,ENST00000551245,;TROAP,missense_variant,p.Tyr592Cys,ENST00000257909,NM_005480.3;TROAP,intron_variant,,ENST00000547923,;C1QL4,downstream_gene_variant,,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000548817,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000551192,; G ENSG00000135451 ENST00000257909 Transcript missense_variant 1851/2527 1775/2337 592/778 Y/C tAc/tGc rs774791257,COSM1299466 1 1 TROAP HGNC HGNC:12327 protein_coding YES CCDS8784.1 ENSP00000257909 Q12815 UPI000007108A NM_005480.3 tolerated_low_confidence(0.21) benign(0) 13/15 hmmpanther:PTHR15289 0,1 MODERATE 1 SNV 1 0,1 PASS TAC . . 4.088e-06 3.28e-05 49330620 SLC8B1 . GRCh38 chr12 113320370 113320370 + Missense_Mutation SNP T T G novel 7316-2187 BS_M28J7CGM T T c.655A>C p.Met219Leu p.M219L ENST00000552014 8/17 43 33 9 20 20 0 SLC8B1,missense_variant,p.Met219Leu,ENST00000552014,NM_001358345.1;SLC8B1,missense_variant,p.Met219Leu,ENST00000202831,NM_024959.2;SLC8B1,missense_variant,p.Met219Leu,ENST00000549181,;SLC8B1,intron_variant,,ENST00000546737,;SLC8B1,downstream_gene_variant,,ENST00000548186,;SLC8B1,downstream_gene_variant,,ENST00000549372,;SLC8B1,intron_variant,,ENST00000551230,;SLC8B1,intron_variant,,ENST00000553238,;SLC8B1,missense_variant,p.Met89Leu,ENST00000550672,;SLC8B1,3_prime_UTR_variant,,ENST00000549605,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000548477,;SLC8B1,upstream_gene_variant,,ENST00000552565,;SLC8B1,downstream_gene_variant,,ENST00000552613,; G ENSG00000089060 ENST00000552014 Transcript missense_variant 1171/3289 655/1755 219/584 M/L Atg/Ctg 1 -1 SLC8B1 HGNC HGNC:26175 protein_coding YES CCDS31909.1 ENSP00000447091 Q6J4K2 UPI000004FA44 NM_001358345.1 tolerated(0.31) benign(0) 8/17 Transmembrane_helices:TMhelix,hmmpanther:PTHR12266:SF0,hmmpanther:PTHR12266,Pfam_domain:PF01699 MODERATE 1 SNV 1 PASS ATG . . 113320370 ERICH6B . GRCh38 chr13 45596447 45596447 + Missense_Mutation SNP T T A novel 7316-2187 BS_M28J7CGM T T c.559A>T p.Asn187Tyr p.N187Y ENST00000298738 3/15 58 51 6 19 19 0 ERICH6B,missense_variant,p.Asn187Tyr,ENST00000298738,NM_182542.2;ERICH6B,non_coding_transcript_exon_variant,,ENST00000378977,; A ENSG00000165837 ENST00000298738 Transcript missense_variant 724/2421 559/2091 187/696 N/Y Aat/Tat 1 -1 ERICH6B HGNC HGNC:26523 protein_coding YES CCDS45045.1 ENSP00000298738 Q5W0A0 UPI000013E513 NM_182542.2 tolerated(1) benign(0) 3/15 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF17 MODERATE 1 SNV 2 PASS TTC . . 45596447 AHNAK2 . GRCh38 chr14 104948823 104948823 + Missense_Mutation SNP C C G rs201874096 7316-2187 BS_M28J7CGM C C c.6628G>C p.Val2210Leu p.V2210L ENST00000333244 7/7 67 56 8 29 29 0 AHNAK2,missense_variant,p.Val2210Leu,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 6748/18254 6628/17388 2210/5795 V/L Gtg/Ctg rs201874096,COSM4599849 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.0337 0.0787 0.0101 0.0347 0.001 0.0225 0,1 MODERATE 1 SNV 5 0,1 PASS ACG . . 0.0004309 0.004073 0.000335 0.0003066 0.000429 0.0001263 0.000557 0.0003304 104948823 IGHV1-69D . GRCh38 chr14 106762331 106762351 + In_Frame_Del DEL CTTCACCGAGGACCCAGGCTT CTTCACCGAGGACCCAGGCTT - rs1374938648 7316-2187 BS_M28J7CGM CTTCACCGAGGACCCAGGCTT CTTCACCGAGGACCCAGGCTT c.94_114del p.Lys32_Lys38del p.K32_K38del ENST00000624687 2/2 46 29 17 15 15 0 IGHV1-69D,inframe_deletion,p.Lys32_Lys38del,ENST00000624687,;,regulatory_region_variant,,ENSR00000073908,; - ENSG00000280411 ENST00000624687 Transcript inframe_deletion 152-172/411 94-114/353 32-38/117 KPGSSVK/- AAGCCTGGGTCCTCGGTGAAG/- rs1374938648 1 -1 IGHV1-69D HGNC HGNC:49601 IG_V_gene YES ENSP00000485152 A0A0B4J2H0 UPI0000600BF6 2/2 MODERATE 1 deletion PASS ACCTTCACCGAGGACCCAGGCTTC . . 106762330 GOLGA8K . GRCh38 chr15 32392859 32392859 + Missense_Mutation SNP T T G rs377542868 7316-2187 BS_M28J7CGM T T c.1816A>C p.Lys606Gln p.K606Q ENST00000512626 19/19 67 55 12 18 18 0 GOLGA8K,missense_variant,p.Lys606Gln,ENST00000512626,NM_001282493.1;RN7SL185P,downstream_gene_variant,,ENST00000615150,; G ENSG00000249931 ENST00000512626 Transcript missense_variant 1817/1894 1816/1893 606/630 K/Q Aag/Cag rs377542868,COSM6409178 1 -1 GOLGA8K HGNC HGNC:38652 protein_coding YES CCDS61577.1 ENSP00000426691 D6RF30 UPI0001A5E7CC NM_001282493.1 tolerated(1) benign(0) 19/19 Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF59 0,1 MODERATE 1 SNV 5 0,1 PASS TTG . . 6.741e-05 3.542e-05 0.0003207 0.0002853 32392859 DUOX2 . GRCh38 chr15 45112580 45112580 + Missense_Mutation SNP T T G novel 7316-2187 BS_M28J7CGM T T c.299A>C p.Asn100Thr p.N100T ENST00000603300 4/34 51 43 6 28 28 0 DUOX2,missense_variant,p.Asn100Thr,ENST00000389039,;DUOX2,missense_variant,p.Asn100Thr,ENST00000603300,NM_014080.4;DUOXA1,downstream_gene_variant,,ENST00000267803,NM_144565.3;DUOXA2,upstream_gene_variant,,ENST00000323030,NM_207581.3;DUOXA1,downstream_gene_variant,,ENST00000430224,NM_001276265.1;DUOXA1,downstream_gene_variant,,ENST00000558996,NM_001276268.1;DUOXA1,downstream_gene_variant,,ENST00000559014,NM_001276264.1;DUOXA1,downstream_gene_variant,,ENST00000613425,;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOXA2,upstream_gene_variant,,ENST00000350243,;DUOXA2,upstream_gene_variant,,ENST00000491993,; G ENSG00000140279 ENST00000603300 Transcript missense_variant 502/6345 299/4647 100/1548 N/T aAc/aCc 1 -1 DUOX2 HGNC HGNC:13273 protein_coding YES CCDS10117.1 ENSP00000475084 Q9NRD8 UPI000013D775 NM_014080.4 deleterious(0) possibly_damaging(0.745) 4/34 SFLDG01169,cd09820,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113,PROSITE_profiles:PS50292,hmmpanther:PTHR11972:SF67,hmmpanther:PTHR11972 MODERATE 1 SNV 1 1 PASS GTT . . 45112580 PDCD7 . GRCh38 chr15 65133639 65133639 + Missense_Mutation SNP A A C novel 7316-2187 BS_M28J7CGM A A c.143T>G p.Phe48Cys p.F48C ENST00000204549 1/5 60 46 8 27 24 0 PDCD7,missense_variant,p.Phe48Cys,ENST00000204549,NM_005707.1;PDCD7,upstream_gene_variant,,ENST00000560313,;,regulatory_region_variant,,ENSR00000078048,; C ENSG00000090470 ENST00000204549 Transcript missense_variant 198/2851 143/1458 48/485 F/C tTt/tGt 1 -1 PDCD7 HGNC HGNC:8767 protein_coding YES CCDS10201.1 ENSP00000204549 Q8N8D1 Q6IEG3 UPI00000731D7 NM_005707.1 deleterious(0) benign(0.007) 1/5 hmmpanther:PTHR44604,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 65133639 ZNF276 . GRCh38 chr16 89723379 89723379 + Missense_Mutation SNP G G A rs982055925 7316-2187 BS_M28J7CGM G G c.676G>A p.Gly226Ser p.G226S ENST00000443381 4/11 78 68 10 27 26 0 ZNF276,missense_variant,p.Gly151Ser,ENST00000289816,NM_152287.3;ZNF276,missense_variant,p.Gly226Ser,ENST00000443381,NM_001113525.1;ZNF276,synonymous_variant,p.Ala144=,ENST00000568064,;VPS9D1,upstream_gene_variant,,ENST00000389386,NM_004913.2;VPS9D1,upstream_gene_variant,,ENST00000561976,;ZNF276,missense_variant,p.Gly226Ser,ENST00000568295,;ZNF276,missense_variant,p.Gly151Ser,ENST00000562530,;ZNF276,non_coding_transcript_exon_variant,,ENST00000563983,;ZNF276,non_coding_transcript_exon_variant,,ENST00000561536,;ZNF276,upstream_gene_variant,,ENST00000563541,;VPS9D1,upstream_gene_variant,,ENST00000563798,;ZNF276,upstream_gene_variant,,ENST00000569426,; A ENSG00000158805 ENST00000443381 Transcript missense_variant 773/2267 676/1845 226/614 G/S Ggc/Agc rs982055925 1 1 ZNF276 HGNC HGNC:23330 protein_coding YES CCDS45554.1 ENSP00000415836 Q8N554 UPI0000EE7D9C NM_001113525.1 deleterious(0.01) probably_damaging(0.999) 4/11 hmmpanther:PTHR44790,Gene3D:3.30.160.60 MODERATE 1 SNV 1 PASS CGG . . 89723379 RPRML . GRCh38 chr17 46978929 46978929 + Missense_Mutation SNP T T G novel 7316-2187 BS_M28J7CGM T T c.79A>C p.Asn27His p.N27H ENST00000322329 1/1 81 65 13 21 19 1 RPRML,missense_variant,p.Asn27His,ENST00000322329,NM_203400.4;GOSR2,downstream_gene_variant,,ENST00000640723,;LRRC37A17P,intron_variant,,ENST00000570478,;AC005670.2,intron_variant,,ENST00000639822,;AC005670.2,intron_variant,,ENST00000571841,;,regulatory_region_variant,,ENSR00000095131,; G ENSG00000179673 ENST00000322329 Transcript missense_variant 320/1093 79/363 27/120 N/H Aac/Cac 1 -1 RPRML HGNC HGNC:32422 protein_coding YES CCDS11508.1 ENSP00000318032 Q8N4K4 UPI000000D948 NM_203400.4 deleterious_low_confidence(0.03) probably_damaging(0.997) 1/1 hmmpanther:PTHR28649,hmmpanther:PTHR28649:SF3 MODERATE SNV PASS TTT . . 46978929 QRICH2 . GRCh38 chr17 76292421 76292421 + Missense_Mutation SNP T T C rs143901735 7316-2187 BS_M28J7CGM T T c.1808A>G p.His603Arg p.H603R ENST00000262765 4/19 55 39 8 26 23 0 QRICH2,missense_variant,p.His769Arg,ENST00000636395,;QRICH2,missense_variant,p.His603Arg,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; C ENSG00000129646 ENST00000262765 Transcript missense_variant 1988/5357 1808/4992 603/1663 H/R cAt/cGt rs143901735,COSM4597121 1 -1 QRICH2 HGNC HGNC:25326 protein_coding YES CCDS32741.1 ENSP00000262765 Q9H0J4 UPI000006FECD NM_032134.2 tolerated(0.55) benign(0) 4/19 mobidb-lite 0.0100 0.003 0.013 0.001 0.0109 0.0256 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 0.01238 0.001699 0.00503 0.01021 0.0001168 0.006282 0.01482 0.01067 0.02899 76292421 TMIGD2 . GRCh38 chr19 4292753 4292753 + Missense_Mutation SNP C C T rs201966094 7316-2187 BS_M28J7CGM C C c.695G>A p.Arg232His p.R232H ENST00000301272 5/5 74 65 8 23 23 0 TMIGD2,missense_variant,p.Arg232His,ENST00000301272,NM_144615.2;TMIGD2,missense_variant,p.Arg228His,ENST00000595645,NM_001169126.1;TMIGD2,missense_variant,p.Arg112His,ENST00000600114,NM_001308232.1;TMIGD2,missense_variant,p.Arg60His,ENST00000600349,;SHD,downstream_gene_variant,,ENST00000543264,NM_020209.3;SHD,downstream_gene_variant,,ENST00000599689,;SHD,downstream_gene_variant,,ENST00000600475,;SHD,downstream_gene_variant,,ENST00000593383,;SHD,downstream_gene_variant,,ENST00000597466,; T ENSG00000167664 ENST00000301272 Transcript missense_variant 741/1262 695/849 232/282 R/H cGc/cAc rs201966094,COSM4131962 1 -1 TMIGD2 HGNC HGNC:28324 protein_coding YES CCDS12126.1 ENSP00000301272 Q96BF3 UPI000013E6F4 NM_144615.2 tolerated(0.29) benign(0) 5/5 mobidb-lite 0.0004 0.002 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 0.0001447 7.075e-05 1.883e-05 0.001028 4292753 DYRK1B . GRCh38 chr19 39833265 39833265 + Splice_Site SNP A A C novel 7316-2187 BS_M28J7CGM A A c.-102+2T>G ENST00000593685 58 44 11 20 18 1 DYRK1B,splice_donor_variant,,ENST00000593685,;DYRK1B,intron_variant,,ENST00000323039,NM_004714.2;DYRK1B,intron_variant,,ENST00000348817,NM_006484.2;DYRK1B,intron_variant,,ENST00000430012,NM_006483.2;DYRK1B,intron_variant,,ENST00000600611,;DYRK1B,intron_variant,,ENST00000601972,;FBL,downstream_gene_variant,,ENST00000221801,NM_001436.3;FBL,downstream_gene_variant,,ENST00000595545,;FBL,downstream_gene_variant,,ENST00000597224,;FBL,downstream_gene_variant,,ENST00000597634,;DYRK1B,upstream_gene_variant,,ENST00000597639,;FBL,downstream_gene_variant,,ENST00000598417,;FBL,downstream_gene_variant,,ENST00000601274,;MIR6719,upstream_gene_variant,,ENST00000622428,;FBL,downstream_gene_variant,,ENST00000593503,;FBL,downstream_gene_variant,,ENST00000594443,;FBL,downstream_gene_variant,,ENST00000599159,;DYRK1B,upstream_gene_variant,,ENST00000601696,;,regulatory_region_variant,,ENSR00000109449,; C ENSG00000105204 ENST00000593685 Transcript splice_donor_variant 1 -1 DYRK1B HGNC HGNC:3092 protein_coding YES CCDS12543.1 ENSP00000469863 Q9Y463 A0A024R0I0 UPI0000001059 1/10 HIGH SNV 5 1 PASS TAC . . 39833265 ZNF112 . GRCh38 chr19 44328265 44328265 + Missense_Mutation SNP A A T rs878955324 7316-2187 BS_M28J7CGM A A c.1910T>A p.Phe637Tyr p.F637Y ENST00000337401 5/5 60 50 9 30 28 0 ZNF112,missense_variant,p.Phe631Tyr,ENST00000354340,NM_013380.3,NM_001348282.1,NM_001348285.1,NM_001348281.1,NM_001348283.1,NM_001348284.1;ZNF112,missense_variant,p.Phe637Tyr,ENST00000337401,NM_001083335.1;ZNF112,downstream_gene_variant,,ENST00000587909,;ZNF112,downstream_gene_variant,,ENST00000588057,;AC245748.1,downstream_gene_variant,,ENST00000588212,;ZNF112,downstream_gene_variant,,ENST00000590687,;ZNF112,downstream_gene_variant,,ENST00000592151,; T ENSG00000062370 ENST00000337401 Transcript missense_variant 1999/3321 1910/2742 637/913 F/Y tTc/tAc rs878955324 1 -1 ZNF112 HGNC HGNC:12892 protein_coding YES CCDS54276.1 ENSP00000337081 Q9UJU3 UPI000006EC70 NM_001083335.1 tolerated(1) benign(0.011) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF90,Gene3D:2.30.30.380,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GAA . . 44328265 ZNF813 . GRCh38 chr19 53491296 53491296 + Missense_Mutation SNP T T A rs879249441 7316-2187 BS_M28J7CGM T T c.1064T>A p.Phe355Tyr p.F355Y ENST00000396403 4/4 64 52 9 22 22 0 ZNF813,missense_variant,p.Phe355Tyr,ENST00000396403,NM_001004301.3;ZNF813,downstream_gene_variant,,ENST00000468450,;ZNF813,downstream_gene_variant,,ENST00000490956,;AC022137.1,upstream_gene_variant,,ENST00000483735,; A ENSG00000198346 ENST00000396403 Transcript missense_variant 1192/6151 1064/1854 355/617 F/Y tTc/tAc rs879249441,COSM4745067 1 1 ZNF813 HGNC HGNC:33257 protein_coding YES CCDS46172.1 ENSP00000379684 Q6ZN06 UPI000040C511 NM_001004301.3 tolerated(1) benign(0) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 3 0,1 PASS TTC . . 53491296 SMARCB1 . GRCh38 chr22 23803338 23803338 + Nonsense_Mutation SNP C C T rs121434496 7316-2187 BS_M28J7CGM C C c.571C>T p.Gln191Ter p.Q191* ENST00000344921 5/9 75 24 48 43 43 0 SMARCB1,stop_gained,p.Gln182Ter,ENST00000644036,NM_003073.4;SMARCB1,stop_gained,p.Gln173Ter,ENST00000407422,NM_001007468.2;SMARCB1,stop_gained,p.Gln191Ter,ENST00000344921,NM_001317946.1;SMARCB1,stop_gained,p.Gln136Ter,ENST00000263121,;SMARCB1,stop_gained,p.Gln200Ter,ENST00000417137,;SMARCB1,stop_gained,p.Gln127Ter,ENST00000407082,;SMARCB1,downstream_gene_variant,,ENST00000634926,;SMARCB1,downstream_gene_variant,,ENST00000635578,;SMARCB1,3_prime_UTR_variant,,ENST00000644462,;SMARCB1,3_prime_UTR_variant,,ENST00000644619,;SMARCB1,3_prime_UTR_variant,,ENST00000647057,;SMARCB1,3_prime_UTR_variant,,ENST00000642727,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000646723,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000644467,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000646911,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000643421,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000642275,;SMARCB1,downstream_gene_variant,,ENST00000491967,;SMARCB1,downstream_gene_variant,,ENST00000646421,; T ENSG00000099956 ENST00000344921 Transcript stop_gained 778/1717 571/1185 191/394 Q/* Cag/Tag rs121434496 1 1 SMARCB1 HGNC HGNC:11103 protein_coding YES CCDS82699.1 ENSP00000340883 G5E975 UPI000013D3AE NM_001317946.1 5/9 hmmpanther:PTHR10019,hmmpanther:PTHR10019:SF5,PIRSF_domain:PIRSF038126,Pfam_domain:PF04855 pathogenic 17357086 HIGH 1 SNV 2 1 1 PASS TCA . . 23803338 PRR5-ARHGAP8 . GRCh38 chr22 44825524 44825524 + Missense_Mutation SNP C T T rs74393756 7316-2187 BS_M28J7CGM C C c.920C>T p.Pro307Leu p.P307L ENST00000361473 10/15 62 13 47 18 13 4 PRR5-ARHGAP8,missense_variant,p.Pro386Leu,ENST00000352766,;PRR5-ARHGAP8,missense_variant,p.Pro307Leu,ENST00000361473,NM_181334.5;ARHGAP8,missense_variant,p.Pro207Leu,ENST00000389774,NM_001017526.1;PRR5-ARHGAP8,missense_variant,p.Pro230Leu,ENST00000515632,;ARHGAP8,missense_variant,p.Pro176Leu,ENST00000356099,NM_181335.2;ARHGAP8,missense_variant,p.Pro176Leu,ENST00000336963,NM_001198726.1;ARHGAP8,3_prime_UTR_variant,,ENST00000389772,;ARHGAP8,3_prime_UTR_variant,,ENST00000447333,;ARHGAP8,non_coding_transcript_exon_variant,,ENST00000460809,;ARHGAP8,non_coding_transcript_exon_variant,,ENST00000498310,; T ENSG00000248405 ENST00000361473 Transcript missense_variant 1162/2013 920/1695 307/564 P/L cCg/cTg rs74393756 1 1 PRR5-ARHGAP8 HGNC HGNC:34512 protein_coding YES CCDS54538.2 ENSP00000354732 B1AHC3 UPI0000D4CD04 NM_181334.5 tolerated(0.44) benign(0.011) 10/15 hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF3,Low_complexity_(Seg):seg 0.0184 0.0666 0.0043 0.001 0.05858 0.0004652 MODERATE SNV 5 PASS CCG . . 0.00449 0.06151 0.002806 0.000102 0.0001163 0.000415 0.002959 9.754e-05 44825524 CERK . GRCh38 chr22 46738005 46738005 + Splice_Site SNP A A C novel 7316-2187 BS_M28J7CGM A A c.142+2T>G p.X48_splice ENST00000216264 58 47 8 20 17 0 CERK,splice_donor_variant,,ENST00000216264,NM_022766.5;CERK,splice_donor_variant,,ENST00000460254,;CERK,splice_donor_variant,,ENST00000443629,;,regulatory_region_variant,,ENSR00000147452,; C ENSG00000100422 ENST00000216264 Transcript splice_donor_variant 1 -1 CERK HGNC HGNC:19256 protein_coding YES CCDS14077.1 ENSP00000216264 Q8TCT0 A0A024R4U8 UPI000004BBBD NM_022766.5 1/12 HIGH 1 SNV 1 PASS CAC . . 46738005 TRO . GRCh38 chrX 54929437 54929437 + Missense_Mutation SNP T T A 7316-2187 BS_M28J7CGM T T c.2713T>A p.Ser905Thr p.S905T ENST00000173898 12/13 81 71 6 27 26 0 TRO,missense_variant,p.Ser905Thr,ENST00000173898,NM_001039705.2;TRO,missense_variant,p.Ser436Thr,ENST00000420798,NM_001271183.1;TRO,missense_variant,p.Ser508Thr,ENST00000375041,NM_001271184.1;TRO,intron_variant,,ENST00000319167,NM_016157.3;TRO,intron_variant,,ENST00000375022,NM_177556.2;TRO,intron_variant,,ENST00000399736,NM_177557.2;TRO,intron_variant,,ENST00000622017,;PFKFB1,downstream_gene_variant,,ENST00000374992,;PFKFB1,downstream_gene_variant,,ENST00000375006,NM_001271804.1,NM_002625.3;TRO,downstream_gene_variant,,ENST00000431115,;PFKFB1,downstream_gene_variant,,ENST00000545676,NM_001271805.1;PFKFB1,downstream_gene_variant,,ENST00000614686,;RF00614,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,; A ENSG00000067445 ENST00000173898 Transcript missense_variant 2825/4647 2713/4296 905/1431 S/T Tcc/Acc COSM6299089 1 1 TRO HGNC HGNC:12326 protein_coding YES CCDS43959.1 ENSP00000173898 Q12816 UPI000021208F NM_001039705.2 tolerated(0.44) benign(0.007) 12/13 Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS CTC . . 54929437 RBMXL3 . GRCh38 chrX 115191305 115191305 + Missense_Mutation SNP C C A rs1342458122 7316-2187 BS_M28J7CGM C C c.1864C>A p.His622Asn p.H622N ENST00000424776 1/1 55 42 5 16 13 0 RBMXL3,missense_variant,p.His622Asn,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343012,; A ENSG00000175718 ENST00000424776 Transcript missense_variant 1879/3442 1864/3204 622/1067 H/N Cac/Aac rs1342458122,COSM6304785 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.65) benign(0.006) 1/1 mobidb-lite 0,1 MODERATE SNV 0,1 PASS CCA . . 1.316e-05 3.248e-05 115191305 SPANXC . GRCh38 chrX 141241609 141241609 + Missense_Mutation SNP C C G rs3208371 7316-2187 BS_M28J7CGM C C c.202G>C p.Val68Leu p.V68L ENST00000358993 2/2 44 32 11 15 15 0 SPANXC,missense_variant,p.Val68Leu,ENST00000358993,NM_022661.3; G ENSG00000198573 ENST00000358993 Transcript missense_variant 241/387 202/294 68/97 V/L Gtg/Ctg rs3208371 1 -1 SPANXC HGNC HGNC:14331 protein_coding YES CCDS14673.1 ENSP00000351884 Q9NY87 UPI0000071E21 NM_022661.3 tolerated_low_confidence(0.63) benign(0.001) 2/2 hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF16,Pfam_domain:PF07458 MODERATE 1 SNV 1 PASS ACC . . 141241609 MAGEC1 . GRCh38 chrX 141907691 141907691 + Missense_Mutation SNP C C T rs1161618613 7316-2187 BS_M28J7CGM C C c.2287C>T p.Pro763Ser p.P763S ENST00000285879 4/4 39 32 5 16 15 0 MAGEC1,missense_variant,p.Pro763Ser,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; T ENSG00000155495 ENST00000285879 Transcript missense_variant 2573/4270 2287/3429 763/1142 P/S Cct/Tct rs1161618613,COSM3913485 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 deleterious_low_confidence(0) benign(0.235) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 141907691 MAGEC1 . GRCh38 chrX 141907796 141907796 + Missense_Mutation SNP C C T 7316-2187 BS_M28J7CGM C C c.2392C>T p.Pro798Ser p.P798S ENST00000285879 4/4 49 40 7 23 21 0 MAGEC1,missense_variant,p.Pro798Ser,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; T ENSG00000155495 ENST00000285879 Transcript missense_variant 2678/4270 2392/3429 798/1142 P/S Cct/Tct COSM365467 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 deleterious_low_confidence(0.04) benign(0.235) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS TCC . . 141907796 HPCA . GRCh38 chr1 32888877 32888877 + Splice_Site SNP G G A novel 7316-878 BS_W75GCHPW G G c.-21-1G>A ENST00000373467 113 102 6 34 34 0 HPCA,splice_acceptor_variant,,ENST00000373467,NM_002143.2;HPCA,splice_acceptor_variant,,ENST00000480118,;HPCA,intron_variant,,ENST00000459874,;HPCA,intron_variant,,ENST00000470166,;HPCA,upstream_gene_variant,,ENST00000470896,; A ENSG00000121905 ENST00000373467 Transcript splice_acceptor_variant 1 1 HPCA HGNC HGNC:5144 protein_coding YES CCDS370.1 ENSP00000362566 P84074 UPI0000022FC5 NM_002143.2 1/3 HIGH 1 SNV 1 1 PASS AGG . . 32888877 C8B . GRCh38 chr1 56931878 56931878 + Missense_Mutation SNP C C T rs754719995 7316-878 BS_W75GCHPW C C c.1553G>A p.Gly518Glu p.G518E ENST00000371237 11/12 117 110 6 32 32 0 C8B,missense_variant,p.Gly466Glu,ENST00000543257,NM_001278543.1;C8B,missense_variant,p.Gly456Glu,ENST00000535057,NM_001278544.1;C8B,missense_variant,p.Gly518Glu,ENST00000371237,NM_000066.3;C8B,splice_region_variant,,ENST00000465658,; T ENSG00000021852 ENST00000371237 Transcript missense_variant,splice_region_variant 1620/2037 1553/1776 518/591 G/E gGa/gAa rs754719995,COSM231925 1 -1 C8B HGNC HGNC:1353 protein_coding YES CCDS30730.1 ENSP00000360281 P07358 UPI000013C9B2 NM_000066.3 tolerated(0.31) benign(0.017) 11/12 Prints_domain:PR00764,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF401 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCC . . 56931878 WDR63 . GRCh38 chr1 85098566 85098566 + Missense_Mutation SNP G G T novel 7316-878 BS_W75GCHPW G G c.1387G>T p.Ala463Ser p.A463S ENST00000294664 13/23 93 87 5 39 39 0 WDR63,missense_variant,p.Ala463Ser,ENST00000294664,NM_145172.4;WDR63,missense_variant,p.Ala424Ser,ENST00000370596,;WDR63,missense_variant,p.Ala424Ser,ENST00000326813,NM_001288563.1;WDR63,3_prime_UTR_variant,,ENST00000464801,; T ENSG00000162643 ENST00000294664 Transcript missense_variant 1567/2995 1387/2676 463/891 A/S Gca/Tca 1 1 WDR63 HGNC HGNC:30711 protein_coding YES CCDS702.1 ENSP00000294664 Q8IWG1 A0A140VJZ8 UPI00000744F1 NM_145172.4 tolerated(0.14) benign(0.003) 13/23 hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF5,Gene3D:2.130.10.10,Superfamily_domains:SSF50978 MODERATE 1 SNV 1 PASS AGC . . 85098566 TCHH . GRCh38 chr1 152108526 152108526 + Missense_Mutation SNP C C A rs879174342 7316-878 BS_W75GCHPW C C c.4691G>T p.Arg1564Leu p.R1564L ENST00000614923 3/3 85 70 7 41 35 0 TCHH,missense_variant,p.Arg1564Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg1564Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,;,TF_binding_site_variant,,MA0139.1,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 4786/6995 4691/5832 1564/1943 R/L cGc/cTc rs879174342,COSM6507740,COSM3740655 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.78) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GCG . . 152108526 FLG2 . GRCh38 chr1 152351313 152351313 + Missense_Mutation SNP C C G rs760307314 7316-878 BS_W75GCHPW C C c.6473G>C p.Gly2158Ala p.G2158A ENST00000388718 3/3 118 101 11 57 54 0 FLG2,missense_variant,p.Gly2158Ala,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 6546/9124 6473/7176 2158/2391 G/A gGc/gCc rs760307314,COSM6305280 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.6) benign(0.39) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCC . . 4.065e-06 3.249e-05 152351313 FLG2 . GRCh38 chr1 152351346 152351346 + Missense_Mutation SNP A A G rs146948893 7316-878 BS_W75GCHPW A A c.6440T>C p.Ile2147Thr p.I2147T ENST00000388718 3/3 127 107 16 43 43 0 FLG2,missense_variant,p.Ile2147Thr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 6513/9124 6440/7176 2147/2391 I/T aTa/aCa rs146948893 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.76) benign(0.113) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0.0016 0.0038 0.0043 0.002497 MODERATE SNV 5 1 PASS TAT . . 0.00026 0.003202 0.0003574 0.0005468 152351346 FLG2 . GRCh38 chr1 152354698 152354698 + Missense_Mutation SNP A A G novel 7316-878 BS_W75GCHPW A A c.3088T>C p.Ser1030Pro p.S1030P ENST00000388718 3/3 106 90 9 46 42 0 FLG2,missense_variant,p.Ser1030Pro,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 3161/9124 3088/7176 1030/2391 S/P Tca/Cca 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.08) benign(0.099) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS GAC . . 152354698 HMCN1 . GRCh38 chr1 185970470 185970470 + Missense_Mutation SNP G G C novel 7316-878 BS_W75GCHPW G G c.2348G>C p.Gly783Ala p.G783A ENST00000271588 15/107 95 86 8 37 37 0 HMCN1,missense_variant,p.Gly783Ala,ENST00000271588,NM_031935.2;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;HMCN1,non_coding_transcript_exon_variant,,ENST00000493413,; C ENSG00000143341 ENST00000271588 Transcript missense_variant 2577/18208 2348/16908 783/5635 G/A gGc/gCc 1 1 HMCN1 HGNC HGNC:19194 protein_coding YES CCDS30956.1 ENSP00000271588 Q96RW7 UPI0000458C0E NM_031935.2 tolerated(0.73) possibly_damaging(0.831) 15/107 Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR44338,hmmpanther:PTHR44338:SF3,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd00096 MODERATE 1 SNV 1 1 PASS GGC . . 185970470 IGFN1 . GRCh38 chr1 201211557 201211557 + Missense_Mutation SNP A A G rs770362258 7316-878 BS_W75GCHPW A A c.6664A>G p.Lys2222Glu p.K2222E ENST00000335211 12/24 86 69 13 36 36 0 IGFN1,missense_variant,p.Lys2222Glu,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6794/11810 6664/11127 2222/3708 K/E Aag/Gag rs770362258,COSM6237261 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.31) benign(0.195) 12/24 mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS TAA . . 1.459e-05 1.784e-05 4.391e-05 201211557 C2orf16 . GRCh38 chr2 27581715 27581715 + Missense_Mutation SNP A A G rs764615112 7316-878 BS_W75GCHPW A A c.5143A>G p.Lys1715Glu p.K1715E ENST00000408964 1/1 121 83 19 50 44 1 C2orf16,missense_variant,p.Lys5119Glu,ENST00000447166,;C2orf16,missense_variant,p.Lys1715Glu,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; G ENSG00000221843 ENST00000408964 Transcript missense_variant 5194/6200 5143/5955 1715/1984 K/E Aag/Gag rs764615112 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(1) benign(0) 1/1 hmmpanther:PTHR33888,hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS TAA . . 4.084e-05 3.041e-05 4.485e-05 8.963e-06 0.0002302 27581715 RGPD3 . GRCh38 chr2 106424116 106424116 + Missense_Mutation SNP T C C rs2557900 7316-878 BS_W75GCHPW T T c.3851A>G p.His1284Arg p.H1284R ENST00000409886 20/23 74 3 71 34 29 4 RGPD3,missense_variant,p.His1284Arg,ENST00000409886,NM_001144013.1;RGPD3,missense_variant,p.His1278Arg,ENST00000304514,;,regulatory_region_variant,,ENSR00000121291,; C ENSG00000153165 ENST00000409886 Transcript missense_variant 3939/5594 3851/5277 1284/1758 H/R cAc/cGc rs2557900,COSM1481814,COSM1481813 1 -1 RGPD3 HGNC HGNC:32416 protein_coding YES CCDS46379.1 ENSP00000386588 A6NKT7 UPI00006C049F NM_001144013.1 tolerated(1) benign(0) 20/23 hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF87 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS GTG . . 0.06744 0.08369 0.1067 0.03589 0.3302 0.01063 0.03684 0.07132 0.05964 106424116 POTEE . GRCh38 chr2 131218689 131218689 + Missense_Mutation SNP A A G rs1333370499 7316-878 BS_W75GCHPW A A c.287A>G p.Asn96Ser p.N96S ENST00000356920 1/15 88 69 15 26 26 0 POTEE,missense_variant,p.Asn96Ser,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Asn96Ser,ENST00000626191,;POTEE,missense_variant,p.Asn96Ser,ENST00000613282,;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,missense_variant,p.Asn96Ser,ENST00000358087,;POTEE,missense_variant,p.Asn96Ser,ENST00000514256,;,regulatory_region_variant,,ENSR00000293574,; G ENSG00000188219 ENST00000356920 Transcript missense_variant 623/4159 287/3228 96/1075 N/S aAc/aGc rs1333370499,COSM4303543,COSM4303542 1 1 POTEE HGNC HGNC:33895 protein_coding YES CCDS46414.1 ENSP00000439189 Q6S8J3 UPI0000F58EC8 NM_001083538.1 tolerated_low_confidence(1) benign(0) 1/15 hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAC . . 8.228e-06 0.0003686 131218689 DNAH7 . GRCh38 chr2 195960273 195960273 + Nonsense_Mutation SNP C C A novel 7316-878 BS_W75GCHPW C C c.2878G>T p.Glu960Ter p.E960* ENST00000312428 18/65 83 71 6 40 40 0 DNAH7,stop_gained,p.Glu960Ter,ENST00000312428,NM_018897.2; A ENSG00000118997 ENST00000312428 Transcript stop_gained 2979/12394 2878/12075 960/4024 E/* Gaa/Taa 1 -1 DNAH7 HGNC HGNC:18661 protein_coding YES CCDS42794.1 ENSP00000311273 Q8WXX0 UPI0000141B95 NM_018897.2 18/65 hmmpanther:PTHR10676:SF310,hmmpanther:PTHR10676,Gene3D:1.25.40.120,Pfam_domain:PF08393 HIGH 1 SNV 1 PASS TCA . . 195960273 NEU4 . GRCh38 chr2 241816524 241816524 + Missense_Mutation SNP C C T novel 7316-878 BS_W75GCHPW C C c.970C>T p.Pro324Ser p.P324S ENST00000325935 4/4 128 118 8 39 37 0 NEU4,missense_variant,p.Pro311Ser,ENST00000391969,NM_001167602.2;NEU4,missense_variant,p.Pro323Ser,ENST00000404257,NM_080741.3;NEU4,missense_variant,p.Pro324Ser,ENST00000325935,NM_001167599.2;NEU4,missense_variant,p.Pro311Ser,ENST00000407683,NM_001167601.2,NM_001167600.2;NEU4,missense_variant,p.Pro311Ser,ENST00000405370,;NEU4,downstream_gene_variant,,ENST00000415936,;NEU4,downstream_gene_variant,,ENST00000420288,;NEU4,downstream_gene_variant,,ENST00000423583,;NEU4,downstream_gene_variant,,ENST00000426032,;NEU4,downstream_gene_variant,,ENST00000428592,;NEU4,downstream_gene_variant,,ENST00000435894,;NEU4,downstream_gene_variant,,ENST00000435934,;AC131097.3,upstream_gene_variant,,ENST00000420272,;NEU4,3_prime_UTR_variant,,ENST00000435855,;NEU4,non_coding_transcript_exon_variant,,ENST00000618597,;NEU4,downstream_gene_variant,,ENST00000476542,;NEU4,downstream_gene_variant,,ENST00000488997,;NEU4,downstream_gene_variant,,ENST00000494678,; T ENSG00000204099 ENST00000325935 Transcript missense_variant 1399/2288 970/1494 324/497 P/S Cct/Tct 1 1 NEU4 HGNC HGNC:21328 protein_coding YES CCDS54441.1 ENSP00000320318 Q8WWR8 UPI0000EE378E NM_001167599.2 tolerated(0.36) benign(0.03) 4/4 Low_complexity_(Seg):seg,mobidb-lite,cd15482,hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF22,Gene3D:2.120.10.10 MODERATE 1 SNV 1 PASS TCC . . 241816524 ZNF717 . GRCh38 chr3 75738689 75738689 + Missense_Mutation SNP C C A rs78216937 7316-878 BS_W75GCHPW C C c.784G>T p.Ala262Ser p.A262S ENST00000478296 4/4 70 53 13 49 46 1 ZNF717,missense_variant,p.Ala262Ser,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; A ENSG00000227124 ENST00000478296 Transcript missense_variant 1061/3875 784/2595 262/864 A/S Gcc/Tcc rs78216937,COSM4158535,COSM4158534 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(0.54) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,Gene3D:2.40.155.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCA . . 0.0156 0.01149 0.02436 0.005532 0.0202 0.002214 0.01754 0.0339 0.007483 75738689 HPS3 . GRCh38 chr3 149162768 149162768 + Missense_Mutation SNP C C T novel 7316-878 BS_W75GCHPW C C c.2371C>T p.Pro791Ser p.P791S ENST00000296051 13/17 51 45 6 44 43 0 HPS3,missense_variant,p.Pro791Ser,ENST00000296051,NM_032383.4;HPS3,missense_variant,p.Pro626Ser,ENST00000460120,NM_001308258.1;CP,3_prime_UTR_variant,,ENST00000479771,;HPS3,missense_variant,p.Pro167Ser,ENST00000460822,;CP,3_prime_UTR_variant,,ENST00000481169,;HPS3,upstream_gene_variant,,ENST00000478525,; T ENSG00000163755 ENST00000296051 Transcript missense_variant 2511/4665 2371/3015 791/1004 P/S Cca/Tca 1 1 HPS3 HGNC HGNC:15597 protein_coding YES CCDS3140.1 ENSP00000296051 Q969F9 UPI000000D989 NM_032383.4 tolerated(0.43) benign(0.037) 13/17 Pfam_domain:PF14763,PIRSF_domain:PIRSF037473,hmmpanther:PTHR28633 MODERATE 1 SNV 1 1 PASS CCC . . 149162768 SLC10A4 . GRCh38 chr4 48483781 48483781 + Missense_Mutation SNP G G A 7316-878 BS_W75GCHPW G G c.220G>A p.Ala74Thr p.A74T ENST00000273861 1/3 41 26 14 29 28 0 SLC10A4,missense_variant,p.Ala74Thr,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168127,; A ENSG00000145248 ENST00000273861 Transcript missense_variant 439/1790 220/1314 74/437 A/T Gcg/Acg COSM3780294 1 1 SLC10A4 HGNC HGNC:22980 protein_coding YES CCDS3482.1 ENSP00000273861 Q96EP9 UPI000006E8DB NM_152679.3 tolerated(0.43) benign(0) 1/3 mobidb-lite,hmmpanther:PTHR10361:SF41,hmmpanther:PTHR10361 1 MODERATE 1 SNV 1 1 PASS CGC . . 48483781 RASGEF1B . GRCh38 chr4 81824537 81824537 + Missense_Mutation SNP G G A novel 7316-878 BS_W75GCHPW G G c.152C>T p.Ser51Phe p.S51F ENST00000638048 3/17 56 31 25 48 48 0 RASGEF1B,missense_variant,p.Ser51Phe,ENST00000638048,;RASGEF1B,missense_variant,p.Ser51Phe,ENST00000514050,;RASGEF1B,non_coding_transcript_exon_variant,,ENST00000510780,;RASGEF1B,non_coding_transcript_exon_variant,,ENST00000508294,;RASGEF1B,non_coding_transcript_exon_variant,,ENST00000512343,;RASGEF1B,missense_variant,p.Ser51Phe,ENST00000512716,; A ENSG00000138670 ENST00000638048 Transcript missense_variant 152/2386 152/1683 51/560 S/F tCc/tTc 1 -1 RASGEF1B HGNC HGNC:24881 protein_coding ENSP00000490436 A0A1B0GVA7 UPI0007E52CDA deleterious_low_confidence(0.04) benign(0.071) 3/17 MODERATE SNV 5 PASS GGA . . 81824537 KDM3B . GRCh38 chr5 138392158 138392158 + Missense_Mutation SNP G G A novel 7316-878 BS_W75GCHPW G G c.2526G>A p.Met842Ile p.M842I ENST00000314358 8/24 69 63 6 33 32 0 KDM3B,missense_variant,p.Met842Ile,ENST00000314358,NM_016604.3;KDM3B,intron_variant,,ENST00000542866,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,intron_variant,,ENST00000507996,;,regulatory_region_variant,,ENSR00000187483,; A ENSG00000120733 ENST00000314358 Transcript missense_variant 2726/6813 2526/5286 842/1761 M/I atG/atA 1 1 KDM3B HGNC HGNC:1337 protein_coding YES CCDS34242.1 ENSP00000326563 Q7LBC6 UPI000020C6A8 NM_016604.3 tolerated(0.23) benign(0) 8/24 hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8 MODERATE 1 SNV 1 PASS TGG . . 138392158 MUCL3 . GRCh38 chr6 30949333 30949333 + Missense_Mutation SNP G G A rs1409012144 7316-878 BS_W75GCHPW G G c.869G>A p.Gly290Glu p.G290E ENST00000462446 2/3 58 48 7 50 50 0 MUCL3,missense_variant,p.Gly357Glu,ENST00000636043,;MUCL3,missense_variant,p.Gly290Glu,ENST00000462446,NM_080870.3;MUCL3,missense_variant,p.Gly290Glu,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 897/5314 869/4182 290/1393 G/E gGa/gAa rs1409012144,COSM5482741,COSM5482740 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(1) benign(0.003) 2/3 mobidb-lite,hmmpanther:PTHR22094 0,1,1 MODERATE SNV 5 0,1,1 1 PASS GGA . . 30949333 MUCL3 . GRCh38 chr6 30949354 30949354 + Missense_Mutation SNP A A C rs868295857 7316-878 BS_W75GCHPW A A c.890A>C p.Asn297Thr p.N297T ENST00000462446 2/3 60 50 7 49 48 0 MUCL3,missense_variant,p.Asn364Thr,ENST00000636043,;MUCL3,missense_variant,p.Asn297Thr,ENST00000462446,NM_080870.3;MUCL3,missense_variant,p.Asn297Thr,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,; C ENSG00000168631 ENST00000462446 Transcript missense_variant 918/5314 890/4182 297/1393 N/T aAc/aCc rs868295857,COSM4996689,COSM4996688 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(1) benign(0) 2/3 mobidb-lite,hmmpanther:PTHR22094 0,1,1 MODERATE SNV 5 0,1,1 1 PASS AAC . . 30949354 MUC22 . GRCh38 chr6 31028661 31028661 + Missense_Mutation SNP T T C rs866421353 7316-878 BS_W75GCHPW T T c.3230T>C p.Val1077Ala p.V1077A ENST00000561890 2/4 68 53 11 44 39 1 MUC22,missense_variant,p.Val1077Ala,ENST00000561890,NM_001198815.1,NM_001318484.1; C ENSG00000261272 ENST00000561890 Transcript missense_variant 3463/6019 3230/5322 1077/1773 V/A gTc/gCc rs866421353 1 1 MUC22 HGNC HGNC:39755 protein_coding YES CCDS59003.1 ENSP00000455906 E2RYF6 UPI0001E92A31 NM_001198815.1,NM_001318484.1 tolerated(0.48) unknown(0) 2/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR37000 MODERATE 1 SNV 2 PASS GTC . . 31028661 HLA-DQA2 . GRCh38 chr6 32745848 32745848 + Missense_Mutation SNP C C T rs116163401 7316-878 BS_W75GCHPW C C c.389C>T p.Thr130Ile p.T130I ENST00000374940 3/5 79 69 9 43 42 0 HLA-DQA2,missense_variant,p.Thr130Ile,ENST00000374940,NM_020056.4;MIR3135B,downstream_gene_variant,,ENST00000581098,; T ENSG00000237541 ENST00000374940 Transcript missense_variant 491/1524 389/768 130/255 T/I aCc/aTc rs116163401,COSM4596651 1 1 HLA-DQA2 HGNC HGNC:4943 protein_coding YES CCDS4753.1 ENSP00000364076 P01906 Q76NI6 UPI0000001086 NM_020056.4 tolerated(0.94) benign(0.219) 3/5 Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF54,SMART_domains:SM00407,Superfamily_domains:SSF48726,cd05767 0,1 MODERATE 1 SNV 0,1 1 PASS ACC . . 0.0007316 0.0005946 0.0004568 0.0006072 0.001463 0.0008966 0.0002062 0.0005283 32745848 PHF3 . GRCh38 chr6 63713153 63713153 + Nonsense_Mutation SNP G A A novel 7316-878 BS_W75GCHPW G G c.5565G>A p.Trp1855Ter p.W1855* ENST00000262043 16/16 68 3 62 30 29 0 PHF3,stop_gained,p.Trp1855Ter,ENST00000262043,NM_001290259.1;PHF3,stop_gained,p.Trp1855Ter,ENST00000393387,NM_015153.3;PHF3,intron_variant,,ENST00000505138,;PHF3,downstream_gene_variant,,ENST00000506783,;PHF3,downstream_gene_variant,,ENST00000515594,;PHF3,3_prime_UTR_variant,,ENST00000509876,; A ENSG00000118482 ENST00000262043 Transcript stop_gained 5905/8233 5565/6120 1855/2039 W/* tgG/tgA 1 1 PHF3 HGNC HGNC:8921 protein_coding YES CCDS4966.1 ENSP00000262043 Q92576 UPI000007154D NM_001290259.1 16/16 hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF10 HIGH 1 SNV 5 PASS GGC . . 63713153 SP4 . GRCh38 chr7 21430111 21430111 + Missense_Mutation SNP G G A novel 7316-878 BS_W75GCHPW G G c.946G>A p.Glu316Lys p.E316K ENST00000222584 3/6 124 63 59 58 58 0 SP4,missense_variant,p.Glu316Lys,ENST00000222584,NM_003112.3,NM_001326543.1,NM_001326542.1;SP4,intron_variant,,ENST00000432066,;SP4,intron_variant,,ENST00000448246,;SP4,downstream_gene_variant,,ENST00000440636,; A ENSG00000105866 ENST00000222584 Transcript missense_variant 1164/6126 946/2355 316/784 E/K Gaa/Aaa 1 1 SP4 HGNC HGNC:11209 protein_coding YES CCDS5373.1 ENSP00000222584 Q02446 UPI000013C807 NM_003112.3,NM_001326543.1,NM_001326542.1 tolerated(0.61) benign(0.023) 3/6 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF17,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AGA . . 21430111 ZNF727 . GRCh38 chr7 64078278 64078278 + Missense_Mutation SNP A A G 7316-878 BS_W75GCHPW A A c.1229A>G p.Asn410Ser p.N410S ENST00000456806 4/4 138 114 10 35 33 0 ZNF727,missense_variant,p.Asn410Ser,ENST00000456806,NM_001159522.1; G ENSG00000214652 ENST00000456806 Transcript missense_variant 1408/1679 1229/1500 410/499 N/S aAc/aGc COSM5636960,COSM3833069 1 1 ZNF727 HGNC HGNC:22785 protein_coding YES CCDS55113.1 ENSP00000485448 A8MUV8 UPI0001A23134 NM_001159522.1 tolerated(0.8) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF98,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 4 1,1 PASS AAC . . 64078278 POM121 . GRCh38 chr7 72942166 72942166 + Missense_Mutation SNP C C T rs1307236009 7316-878 BS_W75GCHPW C C c.1378C>T p.Pro460Ser p.P460S ENST00000395270 14/16 109 90 17 27 27 0 POM121,missense_variant,p.Pro460Ser,ENST00000395270,NM_001257190.2;POM121,missense_variant,p.Pro460Ser,ENST00000627934,NM_172020.4;POM121,missense_variant,p.Pro460Ser,ENST00000358357,;POM121,missense_variant,p.Pro725Ser,ENST00000434423,;POM121,missense_variant,p.Pro460Ser,ENST00000446813,; T ENSG00000196313 ENST00000395270 Transcript missense_variant 2419/7011 1378/3000 460/999 P/S Cct/Tct rs1307236009,COSM5956865,COSM5956864,COSM5956863 1 1 POM121 HGNC HGNC:19702 protein_coding YES CCDS59059.1 ENSP00000378687 Q96HA1 UPI000013DA6B NM_001257190.2 tolerated(1) benign(0) 14/16 hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5,mobidb-lite,Low_complexity_(Seg):seg 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS ACC . . 0.001175 0.00468 0.0001793 0.0002033 0.007635 0.00281 72942166 MUC17 . GRCh38 chr7 101033809 101033809 + Missense_Mutation SNP T T C rs775457824 7316-878 BS_W75GCHPW T T c.2393T>C p.Ile798Thr p.I798T ENST00000306151 3/13 115 94 16 26 25 0 MUC17,missense_variant,p.Ile798Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile798Thr,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 2457/14247 2393/13482 798/4493 I/T aTc/aCc rs775457824,COSM6239762 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS ATC . . 4.067e-06 5.804e-05 101033809 AKR1B15 . GRCh38 chr7 134564629 134564629 + Nonsense_Mutation SNP C C T novel 7316-878 BS_W75GCHPW C C c.10C>T p.Gln4Ter p.Q4* ENST00000457545 3/12 116 99 15 43 43 0 AKR1B15,stop_gained,p.Gln4Ter,ENST00000457545,NM_001080538.2;AKR1B15,stop_gained,p.Gln4Ter,ENST00000423958,;AKR1B15,upstream_gene_variant,,ENST00000467156,; T ENSG00000227471 ENST00000457545 Transcript stop_gained 270/1621 10/1035 4/344 Q/* Caa/Taa 1 1 AKR1B15 HGNC HGNC:37281 protein_coding YES CCDS47715.2 ENSP00000389289 C9JRZ8 UPI00004193E1 NM_001080538.2 3/12 mobidb-lite,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF197 HIGH 1 SNV 5 PASS ACA . . 134564629 ZNF786 . GRCh38 chr7 149070706 149070706 + Missense_Mutation SNP G G C rs1276661986 7316-878 BS_W75GCHPW G G c.2066C>G p.Ala689Gly p.A689G ENST00000491431 4/4 182 159 18 37 35 0 ZNF786,missense_variant,p.Ala603Gly,ENST00000316286,;ZNF786,missense_variant,p.Ala689Gly,ENST00000491431,NM_152411.3; C ENSG00000197362 ENST00000491431 Transcript missense_variant 2131/2874 2066/2349 689/782 A/G gCg/gGg rs1276661986 1 -1 ZNF786 HGNC HGNC:21806 protein_coding YES CCDS47738.1 ENSP00000417470 Q8N393 UPI000013FD40 NM_152411.3 tolerated(0.29) benign(0.059) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376:SF89,hmmpanther:PTHR24376,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CGC . . 149070706 KCNH2 . GRCh38 chr7 150951525 150951525 + Missense_Mutation SNP G G C 7316-878 BS_W75GCHPW G G c.1868C>G p.Thr623Ser p.T623S ENST00000262186 7/15 211 203 7 28 28 0 KCNH2,missense_variant,p.Thr623Ser,ENST00000262186,NM_000238.3;KCNH2,missense_variant,p.Thr283Ser,ENST00000330883,NM_172057.2;KCNH2,missense_variant,p.Thr507Ser,ENST00000430723,NM_172056.2;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,NM_001204798.1; C ENSG00000055118 ENST00000262186 Transcript missense_variant 2270/4286 1868/3480 623/1159 T/S aCc/aGc CM055293 1 -1 KCNH2 HGNC HGNC:6251 protein_coding YES CCDS5910.1 ENSP00000262186 Q12809 A0A090N8Q0 UPI0000062255 NM_000238.3 deleterious(0) possibly_damaging(0.842) 7/15 Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR01463,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 1 PASS GGT . . 150951525 ATG9B . GRCh38 chr7 151019007 151019007 + Missense_Mutation SNP G G A rs1208501523 7316-878 BS_W75GCHPW G G c.1331C>T p.Ala444Val p.A444V ENST00000639579 6/17 190 176 10 35 35 0 ATG9B,missense_variant,p.Ala444Val,ENST00000639579,;ATG9B,missense_variant,p.Ala444Val,ENST00000469530,NM_001317056.1;NOS3,downstream_gene_variant,,ENST00000297494,NM_000603.4;NOS3,downstream_gene_variant,,ENST00000461406,;ATG9B,intron_variant,,ENST00000617967,;ATG9B,downstream_gene_variant,,ENST00000466157,;ATG9B,downstream_gene_variant,,ENST00000473409,;ATG9B,upstream_gene_variant,,ENST00000476282,;NOS3,downstream_gene_variant,,ENST00000477227,;ATG9B,upstream_gene_variant,,ENST00000611177,;ATG9B,missense_variant,p.Ala444Val,ENST00000605952,;ATG9B,upstream_gene_variant,,ENST00000404733,;ATG9B,upstream_gene_variant,,ENST00000471797,;ATG9B,downstream_gene_variant,,ENST00000473134,;,regulatory_region_variant,,ENSR00000219771,; A ENSG00000181652 ENST00000639579 Transcript missense_variant 1407/4539 1331/2775 444/924 A/V gCc/gTc rs1208501523 1 -1 ATG9B HGNC HGNC:21899 protein_coding YES CCDS83242.1 ENSP00000491504 Q674R7 UPI00004286C0 tolerated(0.45) benign(0.007) 6/17 Pfam_domain:PF04109,hmmpanther:PTHR13038,hmmpanther:PTHR13038:SF14,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GGC . . 6.422e-06 0.0001297 151019007 SLC35G5 . GRCh38 chr8 11332082 11332082 + Missense_Mutation SNP C C T rs62488717 7316-878 BS_W75GCHPW C C c.976C>T p.Arg326Trp p.R326W ENST00000382435 1/1 76 68 7 46 44 0 SLC35G5,missense_variant,p.Arg326Trp,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; T ENSG00000177710 ENST00000382435 Transcript missense_variant 1195/1321 976/1017 326/338 R/W Cgg/Tgg rs62488717,COSM3718698 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.17) benign(0) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 MODERATE SNV 0,1 PASS CCG . . 0.2934 0.1711 0.2975 0.3221 0.2793 0.3895 0.2956 0.2607 0.2856 11332082 USP17L7 . GRCh38 chr8 12133373 12133373 + Missense_Mutation SNP C T T rs9720235 7316-878 BS_W75GCHPW C C c.637G>A p.Val213Ile p.V213I ENST00000530447 1/1 74 5 67 75 58 15 USP17L7,missense_variant,p.Val213Ile,ENST00000530447,NM_001256869.1;USP17L2,downstream_gene_variant,,ENST00000333796,NM_201402.2;FAM66D,intron_variant,,ENST00000434078,;AC130366.1,upstream_gene_variant,,ENST00000526505,; T ENSG00000226430 ENST00000530447 Transcript missense_variant 1066/2022 637/1593 213/530 V/I Gtt/Att rs9720235 1 -1 USP17L7 HGNC HGNC:37180 protein_coding YES CCDS78305.1 ENSP00000485337 P0C7H9 UPI00001972BD NM_001256869.1 tolerated(0.65) benign(0.003) 1/1 Gene3D:3.90.70.10,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR44033,hmmpanther:PTHR44033:SF3,Superfamily_domains:SSF54001,cd02661 0.4079 0.2897 0.5187 0.4077 0.4513 0.4448 MODERATE SNV PASS ACG . . 0.4505 0.3057 0.5211 0.491 0.3801 0.487 0.4531 0.4564 0.4292 12133373 USP17L2 . GRCh38 chr8 12137448 12137448 + Missense_Mutation SNP T C C rs12543578 7316-878 BS_W75GCHPW T T c.1313A>G p.Lys438Arg p.K438R ENST00000333796 1/1 68 6 61 77 59 16 USP17L2,missense_variant,p.Lys438Arg,ENST00000333796,NM_201402.2;USP17L7,upstream_gene_variant,,ENST00000530447,NM_001256869.1;FAM66D,intron_variant,,ENST00000434078,; C ENSG00000223443 ENST00000333796 Transcript missense_variant 1630/1910 1313/1593 438/530 K/R aAa/aGa rs12543578,COSM4415128 1 -1 USP17L2 HGNC HGNC:34434 protein_coding YES CCDS43713.1 ENSP00000333329 Q6R6M4 UPI0000198137 NM_201402.2 tolerated(0.74) benign(0.405) 1/1 hmmpanther:PTHR44033,hmmpanther:PTHR44033:SF2 0.4229 0.3381 0.536 0.4018 0.4662 0.4346 0.2912 0.4049 0,1 MODERATE SNV 0,1 PASS TTT . . 0.4635 0.3534 0.5639 0.4984 0.3762 0.5164 0.4575 0.4678 0.417 12137448 PRSS3 . GRCh38 chr9 33796768 33796768 + Missense_Mutation SNP C C A rs1385198925 7316-878 BS_W75GCHPW C C c.337C>A p.Gln113Lys p.Q113K ENST00000361005 2/5 85 62 16 44 40 1 PRSS3,missense_variant,p.Gln70Lys,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Gln113Lys,ENST00000361005,NM_007343.3;PRSS3,missense_variant,p.Gln56Lys,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Gln49Lys,ENST00000429677,NM_001197098.1;PRSS3,missense_variant,p.Gln68Lys,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00000334924,; A ENSG00000010438 ENST00000361005 Transcript missense_variant 337/966 337/915 113/304 Q/K Cag/Aag rs1385198925 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 deleterious(0.04) benign(0.065) 2/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 MODERATE 1 SNV 1 PASS ACA . . 33796768 PRSS3 . GRCh38 chr9 33797831 33797831 + Missense_Mutation SNP G G A rs138654302 7316-878 BS_W75GCHPW G G c.374G>A p.Arg125His p.R125H ENST00000361005 3/5 96 70 25 37 37 0 PRSS3,missense_variant,p.Arg82His,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Arg125His,ENST00000361005,NM_007343.3;PRSS3,missense_variant,p.Arg68His,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Arg61His,ENST00000429677,NM_001197098.1;PRSS3,missense_variant,p.Arg80His,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,splice_region_variant,,ENST00000468152,;PRSS3,splice_region_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,; A ENSG00000010438 ENST00000361005 Transcript missense_variant,splice_region_variant 374/966 374/915 125/304 R/H cGc/cAc rs138654302,COSM2772847,COSM399263,COSM399264 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 tolerated(0.1) benign(0.075) 3/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 0.000227 0.0001163 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS CGC . . 3.249e-05 6.534e-05 8.933e-05 8.952e-06 9.746e-05 33797831 UCK1 . GRCh38 chr9 131529169 131529169 + Missense_Mutation SNP A A T novel 7316-878 BS_W75GCHPW A A c.482T>A p.Leu161His p.L161H ENST00000372211 4/7 73 64 5 34 34 0 UCK1,missense_variant,p.Leu156His,ENST00000372215,NM_001318519.1,NM_031432.3;UCK1,missense_variant,p.Leu161His,ENST00000372211,NM_001261451.2;UCK1,missense_variant,p.Leu156His,ENST00000372208,NM_001135954.2;UCK1,missense_variant,p.Leu147His,ENST00000372210,NM_001261450.2;UCK1,non_coding_transcript_exon_variant,,ENST00000459858,;UCK1,non_coding_transcript_exon_variant,,ENST00000494584,;UCK1,upstream_gene_variant,,ENST00000482398,;UCK1,upstream_gene_variant,,ENST00000484876,;UCK1,missense_variant,p.Leu170His,ENST00000491309,; T ENSG00000130717 ENST00000372211 Transcript missense_variant 508/2114 482/849 161/282 L/H cTc/cAc 1 -1 UCK1 HGNC HGNC:14859 protein_coding YES CCDS59152.1 ENSP00000361285 Q9HA47 UPI00004A2DB7 NM_001261451.2 deleterious(0) probably_damaging(0.994) 4/7 cd02023,hmmpanther:PTHR10285:SF66,hmmpanther:PTHR10285,Pfam_domain:PF00485,Gene3D:3.40.50.300,Superfamily_domains:SSF52540 MODERATE 1 SNV 3 PASS GAG . . 131529169 TCF7L2 . GRCh38 chr10 113165647 113165647 + Missense_Mutation SNP C G G rs77673441 7316-878 BS_W75GCHPW C C c.1484C>G p.Pro495Arg p.P495R ENST00000627217 14/14 58 7 47 31 22 8 TCF7L2,missense_variant,p.Pro427Arg,ENST00000542695,;TCF7L2,missense_variant,p.Pro512Arg,ENST00000355995,;TCF7L2,missense_variant,p.Pro500Arg,ENST00000543371,;TCF7L2,missense_variant,p.Pro472Arg,ENST00000536810,NM_001146285.1;TCF7L2,missense_variant,p.Pro489Arg,ENST00000369397,NM_030756.4;TCF7L2,missense_variant,p.Pro495Arg,ENST00000627217,NM_001146274.1;TCF7L2,missense_variant,p.Pro477Arg,ENST00000629706,NM_001198526.1;TCF7L2,3_prime_UTR_variant,,ENST00000538897,NM_001146284.1,NM_001198529.1,NM_001198531.1;TCF7L2,3_prime_UTR_variant,,ENST00000534894,NM_001198530.1;TCF7L2,3_prime_UTR_variant,,ENST00000545257,NM_001198525.1;TCF7L2,3_prime_UTR_variant,,ENST00000355717,NM_001146286.1,NM_001146283.1;TCF7L2,3_prime_UTR_variant,,ENST00000369386,;TCF7L2,3_prime_UTR_variant,,ENST00000466338,;TCF7L2,intron_variant,,ENST00000480888,;TCF7L2,downstream_gene_variant,,ENST00000277945,;TCF7L2,downstream_gene_variant,,ENST00000352065,NM_001198528.1;TCF7L2,downstream_gene_variant,,ENST00000369395,NM_001198527.1;TCF7L2,3_prime_UTR_variant,,ENST00000470254,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000494353,;TCF7L2,downstream_gene_variant,,ENST00000471569,; G ENSG00000148737 ENST00000627217 Transcript missense_variant 1834/3680 1484/1809 495/602 P/R cCc/cGc rs77673441 1 1 TCF7L2 HGNC HGNC:11641 protein_coding YES CCDS53577.1 ENSP00000486891 Q9NQB0 UPI000002B4A6 NM_001146274.1 deleterious(0.03) benign(0.124) 14/14 hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF25,mobidb-lite,Low_complexity_(Seg):seg 0.0026 0.0069 0.005 0.001 0.001816 0.00593 MODERATE 1 SNV 1 1 PASS CCC . . 0.004469 0.001701 0.003153 0.0005183 0.004302 0.002118 0.006902 0.005 0.001444 113165647 SAA2 . GRCh38 chr11 18245916 18245916 + Missense_Mutation SNP A A G rs71469388 7316-878 BS_W75GCHPW A A c.224T>C p.Val75Ala p.V75A ENST00000526900 3/4 113 97 12 37 36 0 SAA2,missense_variant,p.Val75Ala,ENST00000414546,NM_001127380.2;SAA2,missense_variant,p.Val75Ala,ENST00000528349,;SAA2-SAA4,missense_variant,p.Val75Ala,ENST00000524555,NM_001199744.1;SAA2,missense_variant,p.Val75Ala,ENST00000526900,;SAA2,missense_variant,p.Val75Ala,ENST00000529528,;SAA2,missense_variant,p.Val75Ala,ENST00000256733,NM_030754.4;SAA2,missense_variant,p.Val75Ala,ENST00000530400,;RNA5SP333,downstream_gene_variant,,ENST00000363466,; G ENSG00000134339 ENST00000526900 Transcript missense_variant 408/687 224/369 75/122 V/A gTg/gCg rs71469388,COSM4145612 1 -1 SAA2 HGNC HGNC:10514 protein_coding YES CCDS7833.1 ENSP00000436126 P0DJI9 UPI000016A553 deleterious(0.01) benign(0.036) 3/4 hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PIRSF_domain:PIRSF002472,Pfam_domain:PF00277,SMART_domains:SM00197,Prints_domain:PR00306 0,1 MODERATE 1 SNV 2 0,1 PASS CAC . . 0.3202 0.2165 0.2666 0.2365 0.2941 0.4246 0.3528 0.2903 0.2712 18245916 SLC5A12 . GRCh38 chr11 26703955 26703958 + Splice_Region DEL AGAG AGAG - novel 7316-878 BS_W75GCHPW AGAG AGAG c.526-11_526-8del ENST00000396005 81 48 30 39 37 0 SLC5A12,splice_region_variant,,ENST00000280467,;SLC5A12,splice_region_variant,,ENST00000396005,NM_178498.3;SLC5A12,splice_region_variant,,ENST00000533617,;SLC5A12,splice_region_variant,,ENST00000527405,; - ENSG00000148942 ENST00000396005 Transcript splice_region_variant,intron_variant 1 -1 SLC5A12 HGNC HGNC:28750 protein_coding YES CCDS7860.2 ENSP00000379326 Q1EHB4 UPI000003ED2C NM_178498.3 4/14 LOW 1 deletion 1 PASS ATAGAGA . . 26703954 KIF18A . GRCh38 chr11 28058964 28058964 + Missense_Mutation SNP G G A 7316-878 BS_W75GCHPW G G c.1910C>T p.Thr637Ile p.T637I ENST00000263181 13/17 77 72 5 41 40 0 KIF18A,missense_variant,p.Thr637Ile,ENST00000263181,NM_031217.3;MIR610,downstream_gene_variant,,ENST00000385139,; A ENSG00000121621 ENST00000263181 Transcript missense_variant 2201/3568 1910/2697 637/898 T/I aCc/aTc COSM3446594 1 -1 KIF18A HGNC HGNC:29441 protein_coding YES CCDS7867.1 ENSP00000263181 Q8NI77 UPI0000037CCC NM_031217.3 deleterious(0.04) benign(0.003) 13/17 hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF399 1 MODERATE 1 SNV 1 1 PASS GGT . . 28058964 GRIA4 . GRCh38 chr11 105862022 105862022 + Splice_Site SNP A A C novel 7316-878 BS_W75GCHPW A A c.488-2A>C p.X163_splice ENST00000282499 91 84 6 34 34 0 GRIA4,splice_acceptor_variant,,ENST00000282499,NM_000829.3;GRIA4,splice_acceptor_variant,,ENST00000393125,NM_001077244.1;GRIA4,splice_acceptor_variant,,ENST00000393127,NM_001077243.2;GRIA4,splice_acceptor_variant,,ENST00000428631,NM_001112812.1;GRIA4,splice_acceptor_variant,,ENST00000525187,;GRIA4,splice_acceptor_variant,,ENST00000530497,;GRIA4,splice_acceptor_variant,,ENST00000527687,;GRIA4,splice_acceptor_variant,,ENST00000525032,; C ENSG00000152578 ENST00000282499 Transcript splice_acceptor_variant 1 1 GRIA4 HGNC HGNC:4574 protein_coding YES CCDS8333.1 ENSP00000282499 P48058 UPI000013DCE6 NM_000829.3 4/16 HIGH 1 SNV 5 1 PASS TAG . . 105862022 AP003121.1 . GRCh38 chr11 127190466 127190466 + Splice_Site SNP A A G novel 7316-878 BS_W75GCHPW A A n.31-2A>G ENST00000646216 77 39 37 43 41 0 AP003121.1,splice_acceptor_variant,,ENST00000646216,;AP003121.1,upstream_gene_variant,,ENST00000609845,; G ENSG00000272642 ENST00000646216 Transcript splice_acceptor_variant,non_coding_transcript_variant 1 1 AP003121.1 Clone_based_ensembl_gene lincRNA YES 1/4 HIGH 1 SNV PASS TAG . . 127190466 FOXM1 . GRCh38 chr12 2868760 2868760 + Splice_Region SNP G G A novel 7316-878 BS_W75GCHPW G G c.655-6C>T ENST00000342628 101 42 59 24 24 0 FOXM1,splice_region_variant,,ENST00000342628,NM_202002.2;FOXM1,splice_region_variant,,ENST00000359843,NM_021953.3;FOXM1,splice_region_variant,,ENST00000361953,NM_001243089.1,NM_202003.2;FOXM1,splice_region_variant,,ENST00000627656,NM_001243088.1;FOXM1,upstream_gene_variant,,ENST00000535350,;FOXM1,splice_region_variant,,ENST00000537018,;FOXM1,splice_region_variant,,ENST00000538564,;FOXM1,splice_region_variant,,ENST00000545049,;FOXM1,upstream_gene_variant,,ENST00000366362,;FOXM1,upstream_gene_variant,,ENST00000536066,; A ENSG00000111206 ENST00000342628 Transcript splice_region_variant,intron_variant 1 -1 FOXM1 HGNC HGNC:3818 protein_coding YES CCDS8516.1 ENSP00000342307 Q08050 UPI000016B22B NM_202002.2 3/9 LOW 1 SNV 1 PASS GGG . . 2868760 LRRK2 . GRCh38 chr12 40304013 40304013 + Missense_Mutation SNP C C G novel 7316-878 BS_W75GCHPW C C c.3656C>G p.Ser1219Cys p.S1219C ENST00000298910 27/51 92 80 10 50 50 0 LRRK2,missense_variant,p.Ser1219Cys,ENST00000298910,NM_198578.3;LRRK2,missense_variant,p.Ser1219Cys,ENST00000343742,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,; G ENSG00000188906 ENST00000298910 Transcript missense_variant 3714/9158 3656/7584 1219/2527 S/C tCt/tGt 1 1 LRRK2 HGNC HGNC:18618 protein_coding YES CCDS31774.1 ENSP00000298910 Q5S007 UPI00006C128E NM_198578.3 deleterious(0) probably_damaging(0.996) 27/51 Gene3D:3.80.10.10,hmmpanther:PTHR44651,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 1 PASS TCT . . 40304013 LRRIQ1 . GRCh38 chr12 85056777 85056777 + Missense_Mutation SNP G G T rs781494013 7316-878 BS_W75GCHPW G G c.1984G>T p.Asp662Tyr p.D662Y ENST00000393217 8/27 95 38 54 53 52 0 LRRIQ1,missense_variant,p.Asp662Tyr,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,; T ENSG00000133640 ENST00000393217 Transcript missense_variant 2045/5394 1984/5169 662/1722 D/Y Gat/Tat rs781494013,COSM5783593,COSM5783592 1 1 LRRIQ1 HGNC HGNC:25708 protein_coding YES CCDS41816.1 ENSP00000376910 Q96JM4 A0A140VJN5 UPI0000ED4E82 NM_001079910.1 deleterious(0) possibly_damaging(0.902) 8/27 hmmpanther:PTHR45596,Gene3D:3.80.10.10 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TGA . . 2.071e-05 4.542e-05 85056777 GCN1 . GRCh38 chr12 120160240 120160240 + Missense_Mutation SNP T T C novel 7316-878 BS_W75GCHPW T T c.2452A>G p.Lys818Glu p.K818E ENST00000300648 23/58 93 85 8 46 44 0 GCN1,missense_variant,p.Lys818Glu,ENST00000300648,NM_006836.1;MIR4498,upstream_gene_variant,,ENST00000577599,;GCN1,non_coding_transcript_exon_variant,,ENST00000550471,;GCN1,non_coding_transcript_exon_variant,,ENST00000547369,;GCN1,upstream_gene_variant,,ENST00000548132,;GCN1,downstream_gene_variant,,ENST00000551549,;GCN1,upstream_gene_variant,,ENST00000551920,; C ENSG00000089154 ENST00000300648 Transcript missense_variant 2465/8675 2452/8016 818/2671 K/E Aaa/Gaa 1 -1 GCN1 HGNC HGNC:4199 protein_coding YES CCDS41847.1 ENSP00000300648 Q92616 UPI0000451CA7 NM_006836.1 tolerated(0.46) benign(0.005) 23/58 Gene3D:1.25.10.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTC . . 120160240 N4BP2L1 . GRCh38 chr13 32407318 32407318 + Missense_Mutation SNP C C T novel 7316-878 BS_W75GCHPW C C c.328G>A p.Gly110Ser p.G110S ENST00000380130 3/5 62 56 6 44 43 0 N4BP2L1,missense_variant,p.Gly110Ser,ENST00000380130,NM_001286459.1,NM_052818.2;N4BP2L1,missense_variant,p.Gly110Ser,ENST00000380139,NM_001286460.1,NM_001079691.1;N4BP2L1,missense_variant,p.Gly88Ser,ENST00000635608,NM_001353632.1;N4BP2L1,missense_variant,p.Gly110Ser,ENST00000613078,;N4BP2L1,missense_variant,p.Gly4Ser,ENST00000530622,;N4BP2L1,missense_variant,p.Gly110Ser,ENST00000380133,;N4BP2L1,missense_variant,p.Gly88Ser,ENST00000495479,NM_001286461.1;N4BP2L1,3_prime_UTR_variant,,ENST00000459716,;N4BP2L1,3_prime_UTR_variant,,ENST00000635178,;N4BP2L1,3_prime_UTR_variant,,ENST00000343281,;N4BP2L1,non_coding_transcript_exon_variant,,ENST00000472298,; T ENSG00000139597 ENST00000380130 Transcript missense_variant 424/3046 328/732 110/243 G/S Ggc/Agc 1 -1 N4BP2L1 HGNC HGNC:25037 protein_coding YES CCDS9345.2 ENSP00000369473 Q5TBK1 A0A024RDR5 UPI000003CA35 NM_001286459.1,NM_052818.2 deleterious(0.03) probably_damaging(1) 3/5 cd00009,hmmpanther:PTHR13308:SF5,hmmpanther:PTHR13308,Gene3D:3.40.50.300,Pfam_domain:PF13671,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS CCA . . 32407318 CCDC168 . GRCh38 chr13 102733720 102733720 + Missense_Mutation SNP C C A novel 7316-878 BS_W75GCHPW C C c.16977G>T p.Glu5659Asp p.E5659D ENST00000322527 4/4 56 50 5 35 35 0 CCDC168,missense_variant,p.Glu5659Asp,ENST00000322527,NM_001146197.1; A ENSG00000175820 ENST00000322527 Transcript missense_variant 17115/21466 16977/21246 5659/7081 E/D gaG/gaT 1 -1 CCDC168 HGNC HGNC:26851 protein_coding YES CCDS73596.1 ENSP00000320232 Q8NDH2 UPI0001991308 NM_001146197.1 tolerated(0.13) benign(0.005) 4/4 hmmpanther:PTHR35542 MODERATE 1 SNV 3 PASS CCT . . 102733720 IGHV4-31 . GRCh38 chr14 106349457 106349457 + Missense_Mutation SNP G G T rs77489245 7316-878 BS_W75GCHPW G G c.182C>A p.Pro61Gln p.P61Q ENST00000438142 2/2 63 21 33 137 113 12 IGHV4-31,missense_variant,p.Pro61Gln,ENST00000438142,;,regulatory_region_variant,,ENSR00000073887,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,;IGHVII-30-21,downstream_gene_variant,,ENST00000636897,; T ENSG00000231475 ENST00000438142 Transcript missense_variant 254/428 182/356 61/118 P/Q cCa/cAa rs77489245 1 -1 IGHV4-31 HGNC HGNC:5649 IG_V_gene YES ENSP00000395656 A0A087WSY4 UPI00034F23A3 deleterious_low_confidence(0.01) possibly_damaging(0.557) 2/2 0.6732 0.928 0.9415 0.9324 0.8926 MODERATE 1 SNV PASS TGG . . 106349457 PDPR . GRCh38 chr16 70120577 70120577 + Missense_Mutation SNP A A G rs200469748 7316-878 BS_W75GCHPW A A c.85A>G p.Thr29Ala p.T29A ENST00000288050 3/19 69 56 13 29 29 0 PDPR,missense_variant,p.Thr29Ala,ENST00000288050,NM_001322117.1,NM_017990.4;PDPR,missense_variant,p.Thr29Ala,ENST00000568530,;PDPR,intron_variant,,ENST00000398122,NM_001322119.1,NM_001322118.1;PDPR,missense_variant,p.Thr29Ala,ENST00000565186,;PDPR,non_coding_transcript_exon_variant,,ENST00000561920,; G ENSG00000090857 ENST00000288050 Transcript missense_variant 1042/9255 85/2640 29/879 T/A Acg/Gcg rs200469748,COSM215659 1 1 PDPR HGNC HGNC:30264 protein_coding YES CCDS45520.1 ENSP00000288050 Q8NCN5 UPI00001FF513 NM_001322117.1,NM_017990.4 tolerated(0.74) benign(0) 3/19 hmmpanther:PTHR13847:SF193,hmmpanther:PTHR13847,Gene3D:3.50.50.60 not_provided 0,1 MODERATE 1 SNV 1 0,1 PASS CAC . . 0.009884 0.019 0.001644 0.003394 0.001631 0.06553 0.007394 0.004782 0.001237 70120577 ZNF19 . GRCh38 chr16 71475981 71475981 + Missense_Mutation SNP A A T rs1363237037 7316-878 BS_W75GCHPW A A c.566T>A p.Phe189Tyr p.F189Y ENST00000288177 6/6 72 63 8 43 42 0 ZNF19,missense_variant,p.Phe189Tyr,ENST00000288177,NM_006961.3;ZNF19,missense_variant,p.Phe147Tyr,ENST00000565637,;ZNF19,missense_variant,p.Phe189Tyr,ENST00000564230,;ZNF19,missense_variant,p.Phe119Tyr,ENST00000565100,;ZNF19,intron_variant,,ENST00000567225,;ZNF19,downstream_gene_variant,,ENST00000561469,;ZNF19,downstream_gene_variant,,ENST00000564225,;ZNF19,downstream_gene_variant,,ENST00000566202,;ZNF19,downstream_gene_variant,,ENST00000568815,;ZNF19,3_prime_UTR_variant,,ENST00000569717,;AC010547.4,intron_variant,,ENST00000561908,;ZNF19,downstream_gene_variant,,ENST00000562210,;ZNF19,downstream_gene_variant,,ENST00000565541,; T ENSG00000157429 ENST00000288177 Transcript missense_variant 822/3220 566/1377 189/458 F/Y tTt/tAt rs1363237037 1 -1 ZNF19 HGNC HGNC:12981 protein_coding YES CCDS10901.1 ENSP00000288177 P17023 UPI00001E0590 NM_006961.3 tolerated(0.95) benign(0.23) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF59,hmmpanther:PTHR24381,Gene3D:2.30.30.380,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAA . . 71475981 GUCY2D . GRCh38 chr17 8003447 8003447 + Missense_Mutation SNP C C T novel 7316-878 BS_W75GCHPW C C c.400C>T p.Arg134Trp p.R134W ENST00000254854 2/20 72 63 7 39 39 0 GUCY2D,missense_variant,p.Arg134Trp,ENST00000254854,NM_000180.3;,regulatory_region_variant,,ENSR00000090933,; T ENSG00000132518 ENST00000254854 Transcript missense_variant 550/3698 400/3312 134/1103 R/W Cgg/Tgg 1 1 GUCY2D HGNC HGNC:4689 protein_coding YES CCDS11127.1 ENSP00000254854 Q02846 UPI0000128C1C NM_000180.3 deleterious(0.01) probably_damaging(0.948) 2/20 Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF228,Superfamily_domains:SSF53822,cd06371 MODERATE 1 SNV 1 1 PASS CCG . . 8003447 KRT27 . GRCh38 chr17 40780407 40780407 + Missense_Mutation SNP C T T rs17558560 7316-878 BS_W75GCHPW C C c.577G>A p.Gly193Ser p.G193S ENST00000301656 3/8 66 2 62 32 25 7 KRT27,missense_variant,p.Gly193Ser,ENST00000301656,NM_181537.3;KRT27,upstream_gene_variant,,ENST00000540723,; T ENSG00000171446 ENST00000301656 Transcript missense_variant 618/1612 577/1380 193/459 G/S Ggt/Agt rs17558560,COSM5426683 1 -1 KRT27 HGNC HGNC:30841 protein_coding YES CCDS11375.1 ENSP00000301656 Q7Z3Y8 UPI0000200C91 NM_181537.3 tolerated(0.06) benign(0.314) 3/8 hmmpanther:PTHR23239:SF120,hmmpanther:PTHR23239,Gene3D:1.20.5.340,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF90257,Prints_domain:PR01248 0.3488 0.121 0.2939 0.6617 0.4076 0.3129 0.1575 0.4357 0,1 MODERATE 1 SNV 1 0,1 PASS CCA . . 0.4047 0.1497 0.3412 0.4394 0.6696 0.4347 0.4298 0.3888 0.3321 40780407 ABCA8 . GRCh38 chr17 68885245 68885245 + Missense_Mutation SNP A T T novel 7316-878 BS_W75GCHPW A A c.3500T>A p.Phe1167Tyr p.F1167Y ENST00000586539 27/40 78 2 74 48 48 0 ABCA8,missense_variant,p.Phe1167Tyr,ENST00000430352,NM_001288986.1;ABCA8,missense_variant,p.Phe1127Tyr,ENST00000269080,NM_007168.3;ABCA8,missense_variant,p.Phe1167Tyr,ENST00000586539,NM_001288985.1;ABCA8,downstream_gene_variant,,ENST00000541225,;ABCA8,upstream_gene_variant,,ENST00000586292,;ABCA8,upstream_gene_variant,,ENST00000589980,;ABCA8,upstream_gene_variant,,ENST00000591459,; T ENSG00000141338 ENST00000586539 Transcript missense_variant 3689/5088 3500/4866 1167/1621 F/Y tTt/tAt 1 -1 ABCA8 HGNC HGNC:38 protein_coding YES CCDS74139.1 ENSP00000467271 O94911 UPI0002065B1E NM_001288985.1 tolerated(0.2) possibly_damaging(0.596) 27/40 Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF148,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS AAA . . 68885245 TEPSIN . GRCh38 chr17 81228944 81228944 + Missense_Mutation SNP G G T rs771790194 7316-878 BS_W75GCHPW G G c.1562C>A p.Ala521Glu p.A521E ENST00000300714 12/12 86 76 6 25 25 0 TEPSIN,missense_variant,p.Ala521Glu,ENST00000300714,NM_144679.2;TEPSIN,missense_variant,p.Ala589Glu,ENST00000637944,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000575922,;AC027601.1,upstream_gene_variant,,ENST00000569559,;TEPSIN,non_coding_transcript_exon_variant,,ENST00000576090,;TEPSIN,non_coding_transcript_exon_variant,,ENST00000573295,;TEPSIN,downstream_gene_variant,,ENST00000571115,;TEPSIN,downstream_gene_variant,,ENST00000574944,;,regulatory_region_variant,,ENSR00000099359,; T ENSG00000167302 ENST00000300714 Transcript missense_variant 1620/2287 1562/1578 521/525 A/E gCg/gAg rs771790194 1 -1 TEPSIN HGNC HGNC:26458 protein_coding YES CCDS11779.1 ENSP00000300714 Q96N21 UPI0000071221 NM_144679.2 deleterious(0.01) possibly_damaging(0.492) 12/12 hmmpanther:PTHR21514,hmmpanther:PTHR21514:SF0,mobidb-lite MODERATE 1 SNV 1 PASS CGC . . 4.081e-06 3.25e-05 81228944 HSBP1L1 . GRCh38 chr18 79968135 79968135 + Missense_Mutation SNP G T T rs2298645 7316-878 BS_W75GCHPW G G c.165G>T p.Lys55Asn p.K55N ENST00000451882 3/4 51 1 50 28 22 6 HSBP1L1,missense_variant,p.Lys55Asn,ENST00000451882,NM_001136180.1;TXNL4A,downstream_gene_variant,,ENST00000269601,NM_001303471.2,NM_006701.4,NM_001305557.1;TXNL4A,downstream_gene_variant,,ENST00000585474,NM_001305564.1;HSBP1L1,3_prime_UTR_variant,,ENST00000589516,;HSBP1L1,non_coding_transcript_exon_variant,,ENST00000587347,;HSBP1L1,upstream_gene_variant,,ENST00000590571,;HSBP1L1,downstream_gene_variant,,ENST00000592352,; T ENSG00000226742 ENST00000451882 Transcript missense_variant 340/771 165/225 55/74 K/N aaG/aaT rs2298645 1 1 HSBP1L1 HGNC HGNC:37243 protein_coding YES CCDS45886.1 ENSP00000414236 C9JCN9 UPI000013FC53 NM_001136180.1 tolerated(0.92) benign(0) 3/4 Gene3D:3.90.20.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06825,hmmpanther:PTHR19424,hmmpanther:PTHR19424:SF4 0.7985 0.6135 0.8271 0.9167 0.825 0.8793 0.6279 0.829 MODERATE 1 SNV 1 PASS AGG . . 0.8342 0.6325 0.8409 0.7335 0.9183 0.8861 0.8261 0.8227 0.8809 79968135 FUT3 . GRCh38 chr19 5844407 5844407 + Missense_Mutation SNP G G A novel 7316-878 BS_W75GCHPW G G c.433C>T p.His145Tyr p.H145Y ENST00000303225 3/3 94 80 11 45 44 0 FUT3,missense_variant,p.His145Tyr,ENST00000303225,NM_000149.3;FUT3,missense_variant,p.His145Tyr,ENST00000589620,NM_001097639.1;FUT3,missense_variant,p.His145Tyr,ENST00000589918,NM_001097640.1;FUT3,missense_variant,p.His145Tyr,ENST00000458379,NM_001097641.1;FUT6,upstream_gene_variant,,ENST00000286955,NM_001040701.1;FUT6,upstream_gene_variant,,ENST00000318336,NM_000150.2;FUT6,upstream_gene_variant,,ENST00000524754,;FUT3,downstream_gene_variant,,ENST00000585715,;FUT3,downstream_gene_variant,,ENST00000587048,;FUT3,downstream_gene_variant,,ENST00000587183,;FUT3,downstream_gene_variant,,ENST00000589714,;AC024592.2,upstream_gene_variant,,ENST00000589276,;FUT3,downstream_gene_variant,,ENST00000588539,;FUT3,downstream_gene_variant,,ENST00000593144,;FUT6,upstream_gene_variant,,ENST00000591079,; A ENSG00000171124 ENST00000303225 Transcript missense_variant 1068/2587 433/1086 145/361 H/Y Cac/Tac 1 -1 FUT3 HGNC HGNC:4014 protein_coding YES CCDS12153.1 ENSP00000305603 P21217 UPI000013E879 NM_000149.3 deleterious(0.03) benign(0.133) 3/3 Pfam_domain:PF17039,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF165,Superfamily_domains:SSF53756 MODERATE 1 SNV 1 PASS TGC . . 5844407 CYP4F8 . GRCh38 chr19 15628831 15628831 + Missense_Mutation SNP C C T rs1190402029 7316-878 BS_W75GCHPW C C c.1385C>T p.Ser462Leu p.S462L ENST00000612078 12/13 91 42 47 39 38 0 CYP4F8,missense_variant,p.Ser462Leu,ENST00000612078,NM_007253.3;CYP4F8,missense_variant,p.Ser75Leu,ENST00000589722,;CYP4F8,intron_variant,,ENST00000589778,;CYP4F8,3_prime_UTR_variant,,ENST00000325723,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000622291,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000590745,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000441682,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000589927,;CYP4F8,non_coding_transcript_exon_variant,,ENST00000585349,; T ENSG00000186526 ENST00000612078 Transcript missense_variant 1446/1889 1385/1563 462/520 S/L tCg/tTg rs1190402029 1 1 CYP4F8 HGNC HGNC:2648 protein_coding YES CCDS74303.1 ENSP00000477567 P98187 UPI000012829D NM_007253.3 deleterious(0) probably_damaging(0.982) 12/13 hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF18,PROSITE_patterns:PS00086,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR00385 MODERATE 1 SNV 1 PASS TCG . . 15628831 ZNF682 . GRCh38 chr19 20006271 20006271 + Missense_Mutation SNP T T G novel 7316-878 BS_W75GCHPW T T c.1231A>C p.Ile411Leu p.I411L ENST00000397165 4/4 92 84 8 33 31 0 ZNF682,missense_variant,p.Ile411Leu,ENST00000397165,NM_033196.2;ZNF682,missense_variant,p.Ile379Leu,ENST00000397162,NM_001077349.1;ZNF682,missense_variant,p.Ile379Leu,ENST00000358523,;ZNF682,missense_variant,p.Ile335Leu,ENST00000595736,;ZNF682,missense_variant,p.Ile417Leu,ENST00000597972,;ZNF682,intron_variant,,ENST00000594127,;ZNF682,intron_variant,,ENST00000596019,;ZNF682,intron_variant,,ENST00000602079,;ZNF682,downstream_gene_variant,,ENST00000593468,;ZNF682,downstream_gene_variant,,ENST00000601100,;ZNF682,non_coding_transcript_exon_variant,,ENST00000601365,;ZNF682,downstream_gene_variant,,ENST00000595534,; G ENSG00000197124 ENST00000397165 Transcript missense_variant 1392/3245 1231/1497 411/498 I/L Atc/Ctc 1 -1 ZNF682 HGNC HGNC:28857 protein_coding YES CCDS42533.1 ENSP00000380351 O95780 UPI000007275A NM_033196.2 tolerated(0.41) benign(0.005) 4/4 Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS ATT . . 20006271 ZNF208 . GRCh38 chr19 21971395 21971395 + Missense_Mutation SNP T T A rs560585093 7316-878 BS_W75GCHPW T T c.3639A>T p.Arg1213Ser p.R1213S ENST00000397126 4/4 71 45 16 41 37 1 ZNF208,missense_variant,p.Arg1213Ser,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Arg1085Ser,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; A ENSG00000160321 ENST00000397126 Transcript missense_variant 3788/3992 3639/3843 1213/1280 R/S agA/agT rs560585093,COSM1611940,COSM1611939,COSM1611938 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(0.52) benign(0.054) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0002 0.001 0,1,1,1 MODERATE 1 SNV 3 0,1,1,1 PASS ATC . . 1.67e-05 3.017e-05 0.0001756 21971395 ZNF208 . GRCh38 chr19 21972312 21972312 + Missense_Mutation SNP C C T rs756565273 7316-878 BS_W75GCHPW C C c.2722G>A p.Glu908Lys p.E908K ENST00000397126 4/4 95 83 9 37 35 0 ZNF208,missense_variant,p.Glu908Lys,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Glu808Lys,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; T ENSG00000160321 ENST00000397126 Transcript missense_variant 2871/3992 2722/3843 908/1280 E/K Gag/Aag rs756565273,COSM1471065,COSM1471064,COSM1471063 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(0.6) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,hmmpanther:PTHR24384:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1,1 MODERATE 1 SNV 3 0,1,1,1 PASS TCA . . 1.245e-05 0.0001318 9.104e-06 21972312 CCDC8 . GRCh38 chr19 46411487 46411487 + Missense_Mutation SNP G G C rs1163735259 7316-878 BS_W75GCHPW G G c.1324C>G p.His442Asp p.H442D ENST00000307522 1/1 100 87 12 36 36 0 CCDC8,missense_variant,p.His442Asp,ENST00000307522,NM_032040.4; C ENSG00000169515 ENST00000307522 Transcript missense_variant 2098/3213 1324/1617 442/538 H/D Cat/Gat rs1163735259,COSM6205530 1 -1 CCDC8 HGNC HGNC:25367 protein_coding YES CCDS12685.1 ENSP00000303158 Q9H0W5 UPI00000730F2 NM_032040.4 tolerated_low_confidence(0.34) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR23095:SF2,hmmpanther:PTHR23095 0,1 MODERATE 1 SNV 0,1 1 PASS TGT . . 46411487 SIGLEC7 . GRCh38 chr19 51142402 51142402 + Missense_Mutation SNP G G T 7316-878 BS_W75GCHPW G G c.33G>T p.Trp11Cys p.W11C ENST00000317643 1/7 88 45 40 30 30 0 SIGLEC7,missense_variant,p.Trp11Cys,ENST00000317643,NM_014385.3;SIGLEC7,missense_variant,p.Trp11Cys,ENST00000305628,NM_016543.3;SIGLEC7,missense_variant,p.Trp11Cys,ENST00000601682,;SIGLEC7,missense_variant,p.Trp11Cys,ENST00000600577,NM_001277201.1;SIGLEC7,missense_variant,p.Trp11Cys,ENST00000536156,;SIGLEC7,upstream_gene_variant,,ENST00000599250,;,regulatory_region_variant,,ENSR00000111142,;AC063977.1,upstream_gene_variant,,ENST00000600623,;AC063977.2,downstream_gene_variant,,ENST00000601996,; T ENSG00000168995 ENST00000317643 Transcript missense_variant 102/1754 33/1404 11/467 W/C tgG/tgT COSM5968496,COSM1730836 1 1 SIGLEC7 HGNC HGNC:10876 protein_coding YES CCDS12826.1 ENSP00000323328 Q9Y286 UPI000011B40B NM_014385.3 deleterious(0) probably_damaging(0.921) 1/7 hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF101,Cleavage_site_(Signalp):SignalP-noTM 1,1 MODERATE 1 SNV 1 1,1 PASS GGG . . 51142402 ZNF543 . GRCh38 chr19 57328488 57328488 + Missense_Mutation SNP T T G novel 7316-878 BS_W75GCHPW T T c.1026T>G p.Ile342Met p.I342M ENST00000321545 4/4 117 103 10 29 29 0 ZNF543,missense_variant,p.Ile342Met,ENST00000321545,NM_213598.3; G ENSG00000178229 ENST00000321545 Transcript missense_variant 1371/3659 1026/1803 342/600 I/M atT/atG 1 1 ZNF543 HGNC HGNC:25281 protein_coding YES CCDS33130.1 ENSP00000322545 Q08ER8 UPI00001D8197 NM_213598.3 tolerated(0.25) benign(0.012) 4/4 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF710,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTG . . 57328488 ZNF419 . GRCh38 chr19 57493972 57493972 + Missense_Mutation SNP A A G rs1238225222 7316-878 BS_W75GCHPW A A c.1418A>G p.Lys473Arg p.K473R ENST00000424930 5/5 85 69 14 43 42 1 ZNF419,missense_variant,p.Lys440Arg,ENST00000347466,NM_001291743.1,NM_001098494.1;ZNF419,missense_variant,p.Lys473Arg,ENST00000424930,NM_001098491.1;ZNF419,missense_variant,p.Lys460Arg,ENST00000426954,NM_001098492.1;ZNF419,missense_variant,p.Lys472Arg,ENST00000221735,NM_024691.3;ZNF419,missense_variant,p.Lys426Arg,ENST00000415379,NM_001098496.1,NM_001098495.1;ZNF419,missense_variant,p.Lys459Arg,ENST00000442920,NM_001098493.1;ZNF419,missense_variant,p.Lys404Arg,ENST00000354197,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000519310,NM_001291744.1;ZNF419,downstream_gene_variant,,ENST00000520540,NM_001291745.1;ZNF419,downstream_gene_variant,,ENST00000521137,;ZNF419,downstream_gene_variant,,ENST00000521754,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.1,intron_variant,,ENST00000599674,;AC003005.1,intron_variant,,ENST00000601674,; G ENSG00000105136 ENST00000424930 Transcript missense_variant 1647/2323 1418/1536 473/511 K/R aAa/aGa rs1238225222,COSM6200409,COSM6200408 1 1 ZNF419 HGNC HGNC:20648 protein_coding YES CCDS54325.1 ENSP00000388864 Q96HQ0 UPI0000E04CBA NM_001098491.1 tolerated(0.11) benign(0.006) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF633,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAA . . 57493972 ZNF530 . GRCh38 chr19 57606973 57606973 + Missense_Mutation SNP C C G 7316-878 BS_W75GCHPW C C c.1448C>G p.Thr483Arg p.T483R ENST00000332854 3/3 82 71 8 40 39 1 ZNF530,missense_variant,p.Thr483Arg,ENST00000332854,NM_020880.4;ZNF530,intron_variant,,ENST00000597864,;ZNF530,downstream_gene_variant,,ENST00000597700,NM_001321981.1;ZNF530,missense_variant,p.Thr483Arg,ENST00000600619,;ZNF530,non_coding_transcript_exon_variant,,ENST00000598297,; G ENSG00000183647 ENST00000332854 Transcript missense_variant 1668/2962 1448/1800 483/599 T/R aCa/aGa COSM6278245 1 1 ZNF530 HGNC HGNC:29297 protein_coding YES CCDS12955.1 ENSP00000332861 Q6P9A1 UPI0000199017 NM_020880.4 tolerated(1) benign(0) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF616,PROSITE_patterns:PS00028,Gene3D:3.30.40.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS ACA . . 57606973 PCNT . GRCh38 chr21 46334700 46334700 + Missense_Mutation SNP A A C rs150001244 7316-878 BS_W75GCHPW A A c.571A>C p.Thr191Pro p.T191P ENST00000359568 3/47 134 112 20 49 47 1 PCNT,missense_variant,p.Thr191Pro,ENST00000359568,NM_001315529.1,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,non_coding_transcript_exon_variant,,ENST00000490468,; C ENSG00000160299 ENST00000359568 Transcript missense_variant 678/10560 571/10011 191/3336 T/P Aca/Cca rs150001244,COSM5950676 1 1 PCNT HGNC HGNC:16068 protein_coding YES CCDS33592.1 ENSP00000352572 O95613 UPI00001AEB88 NM_001315529.1,NM_006031.5 tolerated_low_confidence(0.21) benign(0) 3/47 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAC . . 8.124e-06 1.791e-05 46334700 CCDC188 . GRCh38 chr22 20150953 20150953 + Missense_Mutation SNP G G A novel 7316-878 BS_W75GCHPW G G c.34C>T p.His12Tyr p.H12Y ENST00000439765 1/9 71 60 8 29 29 0 CCDC188,missense_variant,p.His12Tyr,ENST00000439765,NM_001243537.1;ZDHHC8,downstream_gene_variant,,ENST00000320602,;ZDHHC8,downstream_gene_variant,,ENST00000334554,NM_013373.3;ZDHHC8,downstream_gene_variant,,ENST00000405930,NM_001185024.1;CCDC188,upstream_gene_variant,,ENST00000444532,; A ENSG00000234409 ENST00000439765 Transcript missense_variant 113/1475 34/1209 12/402 H/Y Cac/Tac 1 -1 CCDC188 HGNC HGNC:51899 protein_coding YES ENSP00000409542 H7C350 UPI000387C900 NM_001243537.1 deleterious_low_confidence(0) possibly_damaging(0.686) 1/9 mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS TGG . . 20150953 MAOB . GRCh38 chrX 43803391 43803391 + Missense_Mutation SNP G G A novel 7316-878 BS_W75GCHPW G G c.293C>T p.Pro98Leu p.P98L ENST00000378069 4/15 115 102 11 48 46 0 MAOB,missense_variant,p.Pro98Leu,ENST00000378069,NM_000898.4;MAOB,non_coding_transcript_exon_variant,,ENST00000487544,; A ENSG00000069535 ENST00000378069 Transcript missense_variant 441/2566 293/1563 98/520 P/L cCc/cTc 1 -1 MAOB HGNC HGNC:6834 protein_coding YES CCDS14261.1 ENSP00000367309 P27338 UPI0000049071 NM_000898.4 tolerated(0.44) benign(0.043) 4/15 hmmpanther:PTHR43563,hmmpanther:PTHR43563:SF5,Gene3D:3.50.50.60,Pfam_domain:PF01593,Superfamily_domains:SSF51905,Prints_domain:PR00757 MODERATE 1 SNV 1 PASS GGG . . 43803391 ALAS2 . GRCh38 chrX 55014832 55014832 + Missense_Mutation SNP T T A novel 7316-878 BS_W75GCHPW T T c.1352A>T p.Gln451Leu p.Q451L ENST00000330807 9/11 124 72 51 36 36 0 ALAS2,missense_variant,p.Gln451Leu,ENST00000330807,NM_000032.4;ALAS2,missense_variant,p.Gln438Leu,ENST00000396198,NM_001037968.3;ALAS2,missense_variant,p.Gln414Leu,ENST00000335854,NM_001037967.3;ALAS2,missense_variant,p.Gln215Leu,ENST00000498636,;ALAS2,downstream_gene_variant,,ENST00000477869,;ALAS2,downstream_gene_variant,,ENST00000493869,;ALAS2,downstream_gene_variant,,ENST00000463868,; A ENSG00000158578 ENST00000330807 Transcript missense_variant 1490/2027 1352/1764 451/587 Q/L cAg/cTg 1 -1 ALAS2 HGNC HGNC:397 protein_coding YES CCDS14366.1 ENSP00000332369 P22557 UPI000012C3FE NM_000032.4 deleterious(0) probably_damaging(0.994) 9/11 cd06454,hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF58,Pfam_domain:PF00155,Gene3D:3.90.1150.10,TIGRFAM_domain:TIGR01821,Superfamily_domains:SSF53383 MODERATE 1 SNV 1 1 PASS CTG . . 55014832 DCAF12L2 . GRCh38 chrX 126164576 126164576 + Missense_Mutation SNP A A G rs747322890 7316-878 BS_W75GCHPW A A c.1349T>C p.Leu450Pro p.L450P ENST00000360028 1/1 95 88 7 42 42 0 DCAF12L2,missense_variant,p.Leu450Pro,ENST00000360028,NM_001013628.2; G ENSG00000198354 ENST00000360028 Transcript missense_variant 1522/2599 1349/1392 450/463 L/P cTc/cCc rs747322890 1 -1 DCAF12L2 HGNC HGNC:32950 protein_coding YES CCDS43991.1 ENSP00000353128 Q5VW00 UPI0000197594 NM_001013628.2 deleterious(0.01) probably_damaging(0.998) 1/1 hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF8 MODERATE 1 SNV 1 PASS GAG . . 5.633e-06 0.0002481 126164576 MAGEC1 . GRCh38 chrX 141905624 141905624 + Missense_Mutation SNP A A G rs772994830 7316-878 BS_W75GCHPW A A c.220A>G p.Lys74Glu p.K74E ENST00000285879 4/4 101 85 7 31 28 2 MAGEC1,missense_variant,p.Lys74Glu,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; G ENSG00000155495 ENST00000285879 Transcript missense_variant 506/4270 220/3429 74/1142 K/E Aag/Gag rs772994830,COSM6333541 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(1) benign(0.176) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,mobidb-lite 0.0003 0,1 MODERATE 1 SNV 1 0,1 PASS GAA . . 141905624 U82695.1 . GRCh38 chrX 153483299 153483299 + Splice_Region SNP C C A novel 7316-878 BS_W75GCHPW C C n.1242-6C>A ENST00000635752 136 126 7 28 27 0 HAUS7,intron_variant,,ENST00000370210,;U82695.1,upstream_gene_variant,,ENST00000428676,;U82695.1,splice_region_variant,,ENST00000635752,; A ENSG00000224963 ENST00000635752 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 U82695.1 Clone_based_ensembl_gene transcribed_unitary_pseudogene YES 6/8 LOW 1 SNV PASS ACC . . 153483299 MT-ATP6 . GRCh38 chrM 8654 8654 + Missense_Mutation SNP T C C rs200811540 7316-878 BS_W75GCHPW T T c.128T>C p.Ile43Thr p.I43T ENST00000361899 1/1 16547 3847 12331 4588 3775 728 MT-ATP6,missense_variant,p.Ile43Thr,ENST00000361899,;MT-ND3,upstream_gene_variant,,ENST00000361227,;MT-ND4L,upstream_gene_variant,,ENST00000361335,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND1,downstream_gene_variant,,ENST00000361390,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-CO3,upstream_gene_variant,,ENST00000362079,;MT-TI,downstream_gene_variant,,ENST00000387365,;MT-TQ,upstream_gene_variant,,ENST00000387372,;MT-TM,downstream_gene_variant,,ENST00000387377,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,upstream_gene_variant,,ENST00000387429,;MT-TR,upstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,; C ENSG00000198899 ENST00000361899 Transcript missense_variant 128/681 128/681 43/226 I/T aTc/aCc rs200811540 1 1 MT-ATP6 HGNC HGNC:7414 protein_coding YES ENSP00000354632 P00846 Q0ZFE3 UPI0000001709 tolerated(0.52) benign(0.191) 1/1 Gene3D:1.20.120.220,Pfam_domain:PF00119,hmmpanther:PTHR11410,TIGRFAM_domain:TIGR01131 MODERATE 1 SNV 1 PASS ATC . . 8654 HFM1 . GRCh38 chr1 91319212 91319212 + Splice_Region DEL A A - rs745509814 7316-1771 BS_1DM8G1V8 A A c.2681-3del ENST00000370425 79 72 5 39 37 0 HFM1,splice_region_variant,,ENST00000370425,NM_001017975.4;HFM1,intron_variant,,ENST00000430465,;HFM1,splice_region_variant,,ENST00000462405,;HFM1,intron_variant,,ENST00000497520,; - ENSG00000162669 ENST00000370425 Transcript splice_region_variant,intron_variant rs745509814,COSM1640004 1 -1 HFM1 HGNC HGNC:20193 protein_coding YES CCDS30769.2 ENSP00000359454 A2PYH4 UPI0000F51F79 NM_001017975.4 24/38 0,1 LOW 1 deletion 1 0,1 1 PASS CTAA . . 0.000464 7.285e-05 0.000436 0.0003974 0.0006221 0.0004025 0.0004669 0.0006912 0.0006472 91319211 TCHH . GRCh38 chr1 152109647 152109648 + In_Frame_Ins INS - - CTC rs1433438769 7316-1771 BS_1DM8G1V8 - - c.3569_3570insGAG p.Arg1192dup p.R1192dup ENST00000614923 3/3 80 57 9 36 30 0 TCHH,inframe_insertion,p.Arg1192dup,ENST00000614923,NM_007113.3;TCHH,inframe_insertion,p.Arg1192dup,ENST00000368804,; CTC ENSG00000159450 ENST00000614923 Transcript inframe_insertion 3664-3665/6995 3569-3570/5832 1190/1943 K/KR aaa/aaGAGa rs1433438769,TMP_ESP_1_152082124_152082123 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 3/3 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,hmmpanther:PTHR34855 0.003597 0.0009975 MODERATE 1 insertion 5 1 PASS TTT . . 4.064e-06 8.954e-06 152109647 IVL . GRCh38 chr1 152910471 152910471 + Missense_Mutation SNP T T A rs538782359 7316-1771 BS_1DM8G1V8 T T c.674T>A p.Leu225His p.L225H ENST00000368764 2/2 56 34 12 22 18 0 IVL,missense_variant,p.Leu225His,ENST00000368764,NM_005547.2; A ENSG00000163207 ENST00000368764 Transcript missense_variant 738/2153 674/1758 225/585 L/H cTc/cAc rs538782359 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated(0.51) benign(0) 2/2 Pfam_domain:PF00904,mobidb-lite,Low_complexity_(Seg):seg 0.0002 0.0008 MODERATE 1 SNV 2 PASS CTC . . 152910471 IGFN1 . GRCh38 chr1 201211065 201211065 + Missense_Mutation SNP A A G rs59199921 7316-1771 BS_1DM8G1V8 A A c.6172A>G p.Ser2058Gly p.S2058G ENST00000335211 12/24 36 23 11 23 22 0 IGFN1,missense_variant,p.Ser2058Gly,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6302/11810 6172/11127 2058/3708 S/G Agt/Ggt rs59199921,COSM4143192 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(1) benign(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS GAG . . 0.0006007 0.0005225 0.0002826 0.0001902 0.001381 0.001037 0.0005181 8.181e-05 201211065 RAPGEF2 . GRCh38 chr4 159341800 159341800 + Missense_Mutation SNP T T C rs1266397643 7316-1771 BS_1DM8G1V8 T T c.2288T>C p.Val763Ala p.V763A ENST00000264431 14/24 96 87 9 30 29 0 RAPGEF2,missense_variant,p.Val918Ala,ENST00000644474,;RAPGEF2,missense_variant,p.Val763Ala,ENST00000264431,NM_014247.2,NM_001351726.1;RAPGEF2,missense_variant,p.Val806Ala,ENST00000644902,;RAPGEF2,upstream_gene_variant,,ENST00000502485,;RAPGEF2,upstream_gene_variant,,ENST00000510253,; C ENSG00000109756 ENST00000264431 Transcript missense_variant 2707/6949 2288/4500 763/1499 V/A gTc/gCc rs1266397643,COSM4720320 1 1 RAPGEF2 HGNC HGNC:16854 protein_coding YES CCDS43277.1 ENSP00000264431 Q9Y4G8 UPI0000033783 NM_014247.2,NM_001351726.1 tolerated(0.14) benign(0.007) 14/24 Gene3D:1.10.840.10,Pfam_domain:PF00617,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF217,SMART_domains:SM00147,Superfamily_domains:SSF48366,cd00155 0,1 MODERATE 1 SNV 1 0,1 PASS GTC . . 159341800 IL6 . GRCh38 chr7 22727538 22727538 + Missense_Mutation SNP T T G 7316-1771 BS_1DM8G1V8 T T c.114T>G p.Asp38Glu p.D38E ENST00000404625 3/6 83 78 5 42 40 0 IL6,missense_variant,p.Asp38Glu,ENST00000404625,;IL6,missense_variant,p.Asp38Glu,ENST00000258743,NM_000600.4;IL6,missense_variant,p.Asp15Glu,ENST00000401630,;IL6,missense_variant,p.Asp38Glu,ENST00000406575,;IL6,missense_variant,p.Asp38Glu,ENST00000426291,;IL6,intron_variant,,ENST00000401651,;IL6,intron_variant,,ENST00000407492,NM_001318095.1;AC073072.1,intron_variant,,ENST00000325042,;IL6,non_coding_transcript_exon_variant,,ENST00000485300,;IL6,upstream_gene_variant,,ENST00000464710,; G ENSG00000136244 ENST00000404625 Transcript missense_variant 573/1527 114/639 38/212 D/E gaT/gaG COSM5552155,COSM5552154 1 1 IL6 HGNC HGNC:6018 protein_coding YES CCDS5375.1 ENSP00000385675 P05231 Q75MH2 UPI000002C4A6 tolerated(0.35) benign(0.003) 3/6 PDB-ENSP_mappings:1alu.A,PDB-ENSP_mappings:1il6.A,PDB-ENSP_mappings:1p9m.B,PDB-ENSP_mappings:2il6.A,PDB-ENSP_mappings:4ni7.A,PDB-ENSP_mappings:4ni9.A,PDB-ENSP_mappings:4ni9.C,PDB-ENSP_mappings:4o9h.A,Pfam_domain:PF00489,PIRSF_domain:PIRSF001935,hmmpanther:PTHR45110 1,1 MODERATE SNV 5 1,1 1 PASS ATG . . 22727538 SNX19 . GRCh38 chr11 130910374 130910374 + Splice_Region DEL C C - rs372369099 7316-1771 BS_1DM8G1V8 C C c.1814-4del ENST00000265909 75 49 16 29 25 0 SNX19,splice_region_variant,,ENST00000265909,NM_014758.2;SNX19,splice_region_variant,,ENST00000528555,NM_001301089.1;SNX19,splice_region_variant,,ENST00000530356,;SNX19,splice_region_variant,,ENST00000533214,NM_001347921.1;SNX19,upstream_gene_variant,,ENST00000534726,;SNX19,splice_region_variant,,ENST00000533318,;SNX19,upstream_gene_variant,,ENST00000524460,;SNX19,upstream_gene_variant,,ENST00000526579,;SNX19,splice_region_variant,,ENST00000531608,;SNX19,upstream_gene_variant,,ENST00000527451,; - ENSG00000120451 ENST00000265909 Transcript splice_region_variant,intron_variant rs372369099 1 -1 SNX19 HGNC HGNC:21532 protein_coding YES CCDS31721.1 ENSP00000265909 Q92543 UPI000013D6A5 NM_014758.2 2/10 0.1430 0.1573 0.1254 0.1488 0.1083 0.1656 LOW 1 deletion 1 PASS TTCC . . 0.3148 0.3365 0.3446 0.3296 0.3495 0.2851 0.2974 0.3151 0.3273 130910373 DSC1 . GRCh38 chr18 31154790 31154790 + Missense_Mutation SNP T T A rs761800323 7316-1771 BS_1DM8G1V8 T T c.611A>T p.Lys204Ile p.K204I ENST00000257198 5/16 90 72 18 29 29 0 DSC1,missense_variant,p.Lys204Ile,ENST00000257197,NM_004948.3;DSC1,missense_variant,p.Lys204Ile,ENST00000257198,NM_024421.2;DSCAS,intron_variant,,ENST00000581836,; A ENSG00000134765 ENST00000257198 Transcript missense_variant 873/4225 611/2685 204/894 K/I aAa/aTa rs761800323 1 -1 DSC1 HGNC HGNC:3035 protein_coding YES CCDS11894.1 ENSP00000257198 Q08554 UPI000006DF10 NM_024421.2 deleterious(0) benign(0.003) 5/16 Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF8,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 MODERATE 1 SNV 2 PASS TTT . . 4.092e-06 3.29e-05 31154790 CD209 . GRCh38 chr19 7745770 7745770 + Missense_Mutation SNP T T G rs201615634 7316-1771 BS_1DM8G1V8 T T c.496A>C p.Met166Leu p.M166L ENST00000315599 4/7 51 36 9 17 15 0 CD209,missense_variant,p.Met166Leu,ENST00000315599,NM_021155.3;CD209,missense_variant,p.Met142Leu,ENST00000593660,;CD209,missense_variant,p.Met142Leu,ENST00000601951,;CD209,missense_variant,p.Met166Leu,ENST00000354397,NM_001144897.1;CD209,missense_variant,p.Met142Leu,ENST00000315591,NM_001144896.1;CD209,missense_variant,p.Met122Leu,ENST00000204801,NM_001144894.1;CD209,missense_variant,p.Met142Leu,ENST00000601256,;CD209,intron_variant,,ENST00000394161,;CD209,intron_variant,,ENST00000394173,NM_001144899.1;CD209,intron_variant,,ENST00000593821,NM_001144893.1;CD209,intron_variant,,ENST00000602261,NM_001144895.1;RPL21P129,upstream_gene_variant,,ENST00000491732,; G ENSG00000090659 ENST00000315599 Transcript missense_variant 519/4283 496/1215 166/404 M/L Atg/Ctg rs201615634,COSM4670412,COSM4670411,COSM4670410 1 -1 CD209 HGNC HGNC:1641 protein_coding YES CCDS12186.1 ENSP00000315477 Q9NNX6 UPI000003422C NM_021155.3 tolerated_low_confidence(0.89) benign(0) 4/7 hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF197 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 1 PASS ATC . . 1.674e-05 6.827e-05 5.677e-05 1.813e-05 7745770 PRR36 . GRCh38 chr19 7870977 7870977 + Missense_Mutation SNP G G T rs5027409 7316-1771 BS_1DM8G1V8 G G c.2267C>A p.Pro756His p.P756H ENST00000618550 5/6 34 21 10 17 16 0 PRR36,missense_variant,p.Pro756His,ENST00000618550,NM_001190467.1;PRR36,intron_variant,,ENST00000615988,;AC010336.3,intron_variant,,ENST00000597156,; T ENSG00000183248 ENST00000618550 Transcript missense_variant 2368/4456 2267/4041 756/1346 P/H cCt/cAt rs5027409 1 -1 PRR36 HGNC HGNC:26172 protein_coding YES CCDS74276.1 ENSP00000482374 Q9H6K5 UPI0001DA930F NM_001190467.1 deleterious_low_confidence(0.01) unknown(0) 5/6 hmmpanther:PTHR22427,hmmpanther:PTHR22427:SF6,mobidb-lite MODERATE SNV 5 PASS AGG . . 0.0001686 0.0003823 7870977 ZNF737 . GRCh38 chr19 20544993 20544993 + Missense_Mutation SNP C C T rs782709829 7316-1771 BS_1DM8G1V8 C C c.1210G>A p.Glu404Lys p.E404K ENST00000427401 4/4 74 62 7 30 27 0 ZNF737,missense_variant,p.Glu404Lys,ENST00000427401,NM_001159293.1;ZNF737,downstream_gene_variant,,ENST00000594419,;ZNF737,upstream_gene_variant,,ENST00000596530,;ZNF737,downstream_gene_variant,,ENST00000597940,; T ENSG00000237440 ENST00000427401 Transcript missense_variant 1305/2867 1210/1611 404/536 E/K Gaa/Aaa rs782709829,COSM5855199,COSM4166848 1 -1 ZNF737 HGNC HGNC:32468 protein_coding YES CCDS54238.1 ENSP00000395733 O75373 UPI0000198506 NM_001159293.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TCG . . 5.185e-05 0.0001032 3.532e-05 20544993 ZNF708 . GRCh38 chr19 21293842 21293842 + Missense_Mutation SNP C C T rs140097230 7316-1771 BS_1DM8G1V8 C C c.1124G>A p.Arg375Gln p.R375Q ENST00000356929 4/4 82 70 7 44 40 0 ZNF708,missense_variant,p.Arg375Gln,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; T ENSG00000182141 ENST00000356929 Transcript missense_variant 1322/4004 1124/1692 375/563 R/Q cGg/cAg rs140097230 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 tolerated(0.7) benign(0.009) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CCG . . 1.245e-05 2.738e-05 21293842 SMARCB1 . GRCh38 chr22 23787203 23787210 + Frame_Shift_Del DEL CAGAAGCC - - novel 7316-1771 BS_1DM8G1V8 CAGAAGCC CAGAAGCC c.35_42del p.Gln12ArgfsTer55 p.Q12Rfs*55 ENST00000344921 1/9 65 2 61 31 31 0 SMARCB1,frameshift_variant,p.Gln12ArgfsTer56,ENST00000644036,NM_003073.4;SMARCB1,frameshift_variant,p.Gln12ArgfsTer55,ENST00000407422,NM_001007468.2;SMARCB1,frameshift_variant,p.Gln12ArgfsTer55,ENST00000344921,NM_001317946.1;SMARCB1,frameshift_variant,p.Gln12ArgfsTer56,ENST00000263121,;SMARCB1,frameshift_variant,p.Gln12ArgfsTer56,ENST00000417137,;SMARCB1,frameshift_variant,p.Gln12ArgfsTer55,ENST00000407082,;MMP11,downstream_gene_variant,,ENST00000215743,NM_005940.4;SMARCB1,upstream_gene_variant,,ENST00000634926,;SMARCB1,upstream_gene_variant,,ENST00000635578,;MMP11,downstream_gene_variant,,ENST00000480185,;MMP11,downstream_gene_variant,,ENST00000488363,;SMARCB1,frameshift_variant,p.Gln12ArgfsTer56,ENST00000644619,;SMARCB1,frameshift_variant,p.Gln12ArgfsTer39,ENST00000647057,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000646723,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000646421,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000491967,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000643421,;MMP11,downstream_gene_variant,,ENST00000434318,;MMP11,downstream_gene_variant,,ENST00000437086,;MMP11,downstream_gene_variant,,ENST00000465385,;MMP11,downstream_gene_variant,,ENST00000493132,;SMARCB1,upstream_gene_variant,,ENST00000644462,;SMARCB1,upstream_gene_variant,,ENST00000646911,;,regulatory_region_variant,,ENSR00000144292,; - ENSG00000099956 ENST00000344921 Transcript frameshift_variant 241-248/1717 34-41/1185 12-14/394 QKP/X CAGAAGCCc/c 1 1 SMARCB1 HGNC HGNC:11103 protein_coding YES CCDS82699.1 ENSP00000340883 G5E975 UPI000013D3AE NM_001317946.1 1/9 PIRSF_domain:PIRSF038126 HIGH deletion 2 1 1 PASS GGCAGAAGCCC . . 23787202 TTLL12 . GRCh38 chr22 43187045 43187045 + Missense_Mutation SNP G A A rs146647114 7316-1771 BS_1DM8G1V8 G G c.25C>T p.Arg9Cys p.R9C ENST00000216129 1/14 64 1 52 16 11 2 TTLL12,missense_variant,p.Arg9Cys,ENST00000216129,NM_015140.3;,regulatory_region_variant,,ENSR00000146913,; A ENSG00000100304 ENST00000216129 Transcript missense_variant 89/3385 25/1935 9/644 R/C Cgc/Tgc rs146647114 1 -1 TTLL12 HGNC HGNC:28974 protein_coding YES CCDS14047.1 ENSP00000216129 Q14166 A0A024R4U3 UPI000013938D NM_015140.3 tolerated_low_confidence(0.06) benign(0.136) 1/14 mobidb-lite,Low_complexity_(Seg):seg 0.0296 0.034 0.0432 0.0626 0.0102 MODERATE 1 SNV 1 PASS CGC . . 0.08475 1 0.25 0.08075 0.0625 43187045 MAGEE1 . GRCh38 chrX 76428669 76428669 + Missense_Mutation SNP C C T rs1231344114 7316-1771 BS_1DM8G1V8 C C c.739C>T p.Pro247Ser p.P247S ENST00000361470 1/1 75 49 7 38 29 0 MAGEE1,missense_variant,p.Pro247Ser,ENST00000361470,NM_020932.2;,regulatory_region_variant,,ENSR00000247301,; T ENSG00000198934 ENST00000361470 Transcript missense_variant 946/3630 739/2874 247/957 P/S Ccc/Tcc rs1231344114,COSM1756671,COSM1756670 1 1 MAGEE1 HGNC HGNC:24934 protein_coding YES CCDS14433.1 ENSP00000354912 Q9HCI5 UPI000006F138 NM_020932.2 tolerated_low_confidence(1) benign(0) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF9,mobidb-lite 0,1,1 MODERATE 1 SNV 0,1,1 PASS CCC . . 76428669 TEX13C . GRCh38 chrX 125322236 125322236 + Missense_Mutation SNP G G A rs1159415981 7316-1771 BS_1DM8G1V8 G G c.2117G>A p.Gly706Glu p.G706E ENST00000632600 1/1 55 42 8 27 25 0 TEX13C,missense_variant,p.Gly706Glu,ENST00000632600,NM_001195272.1;AL627231.1,downstream_gene_variant,,ENST00000394467,; A ENSG00000282815 ENST00000632600 Transcript missense_variant 2117/5095 2117/2982 706/993 G/E gGg/gAg rs1159415981 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.21) probably_damaging(0.994) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,hmmpanther:PTHR23111:SF28 MODERATE 1 SNV PASS GGG . . 125322236 SDE2 . GRCh38 chr1 225988213 225988213 + Missense_Mutation SNP T T A novel 7316-376 BS_ECMB9SWH T T c.817A>T p.Asn273Tyr p.N273Y ENST00000272091 6/7 63 27 36 46 45 0 SDE2,missense_variant,p.Asn273Tyr,ENST00000272091,NM_152608.3; A ENSG00000143751 ENST00000272091 Transcript missense_variant 836/3975 817/1356 273/451 N/Y Aat/Tat 1 -1 SDE2 HGNC HGNC:26643 protein_coding YES CCDS41473.1 ENSP00000272091 Q6IQ49 UPI0000204007 NM_152608.3 deleterious(0.01) benign(0.188) 6/7 Gene3D:1.20.5.340,hmmpanther:PTHR12786,hmmpanther:PTHR12786:SF1,mobidb-lite MODERATE 1 SNV 1 PASS TTC . . 225988213 OR14A2 . GRCh38 chr1 247723237 247723238 + In_Frame_Ins INS - - GTCGCCGTA novel 7316-376 BS_ECMB9SWH - - c.806_807insTACGGCGAC p.Asp269_Arg270insThrAlaThr p.D269_R270insTAT ENST00000366485 1/1 77 60 10 43 43 0 OR14A2,inframe_insertion,p.Asp269_Arg270insThrAlaThr,ENST00000366485,;AC118470.1,intron_variant,,ENST00000419891,;AL390860.1,intron_variant,,ENST00000449298,;OR14A2,splice_region_variant,,ENST00000426444,; GTCGCCGTA ENSG00000241128 ENST00000366485 Transcript inframe_insertion 806-807/945 806-807/945 269/314 D/DTAT gac/gaTACGGCGACc 1 -1 OR14A2 HGNC HGNC:15024 protein_coding YES ENSP00000355441 Q96R54 A0A126GWG8 UPI000004A5E7 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF346,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15227 MODERATE insertion PASS TGT . . 247723237 AC073284.1 . GRCh38 chr2 215277686 215277686 + Splice_Region SNP G G A novel 7316-376 BS_ECMB9SWH G G n.225+3G>A ENST00000448086 69 40 28 39 39 0 AC073284.1,splice_region_variant,,ENST00000448086,; A ENSG00000237571 ENST00000448086 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 AC073284.1 Clone_based_ensembl_gene lincRNA YES 2/2 LOW 1 SNV 3 PASS TGA . . 215277686 CDS1 . GRCh38 chr4 84640889 84640889 + Nonsense_Mutation SNP C C T rs370191328 7316-376 BS_ECMB9SWH C C c.931C>T p.Arg311Ter p.R311* ENST00000295887 10/13 83 35 48 39 39 0 CDS1,stop_gained,p.Arg311Ter,ENST00000295887,NM_001263.3; T ENSG00000163624 ENST00000295887 Transcript stop_gained 1354/4461 931/1386 311/461 R/* Cga/Tga rs370191328,COSM6625798 1 1 CDS1 HGNC HGNC:1800 protein_coding YES CCDS3608.1 ENSP00000295887 Q92903 A0A024RDG8 UPI0000127453 NM_001263.3 10/13 hmmpanther:PTHR13773,hmmpanther:PTHR13773:SF5,PIRSF_domain:PIRSF018269,Pfam_domain:PF01148 0.0001163 0,1 HIGH 1 SNV 1 0,1 PASS CCG . . 1.229e-05 6.102e-05 8.989e-06 84640889 ADAMTS12 . GRCh38 chr5 33624306 33624306 + Missense_Mutation SNP G G A rs146677662 7316-376 BS_ECMB9SWH G G c.2068C>T p.Arg690Cys p.R690C ENST00000504830 14/24 93 46 45 34 34 0 ADAMTS12,missense_variant,p.Arg690Cys,ENST00000504830,NM_030955.2;ADAMTS12,intron_variant,,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000506952,; A ENSG00000151388 ENST00000504830 Transcript missense_variant 2404/8774 2068/4785 690/1594 R/C Cgc/Tgc rs146677662 1 -1 ADAMTS12 HGNC HGNC:14605 protein_coding YES CCDS34140.1 ENSP00000422554 P58397 UPI000013DC51 NM_030955.2 deleterious(0) probably_damaging(0.95) 14/24 hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,Prints_domain:PR01857 0.0002 0.001 0.0001163 MODERATE 1 SNV 1 PASS CGA . . 1.629e-05 2.699e-05 3.249e-05 33624306 PCDHB12 . GRCh38 chr5 141210207 141210207 + Missense_Mutation SNP G G A rs782402012 7316-376 BS_ECMB9SWH G G c.1300G>A p.Glu434Lys p.E434K ENST00000239450 1/1 75 58 17 29 28 0 PCDHB12,missense_variant,p.Glu434Lys,ENST00000239450,NM_018932.3;PCDHB12,missense_variant,p.Glu97Lys,ENST00000624949,;PCDHB12,3_prime_UTR_variant,,ENST00000622978,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.3;AC244517.11,intron_variant,,ENST00000624192,;,regulatory_region_variant,,ENSR00000317584,; A ENSG00000120328 ENST00000239450 Transcript missense_variant 1489/3853 1300/2388 434/795 E/K Gag/Aag rs782402012 1 1 PCDHB12 HGNC HGNC:8683 protein_coding YES CCDS4254.1 ENSP00000239450 Q9Y5F1 UPI000000DAFD NM_018932.3 deleterious_low_confidence(0.02) possibly_damaging(0.506) 1/1 Gene3D:2.60.350.10,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF228,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 MODERATE 1 SNV PASS CGA . . 8.121e-06 1.79e-05 141210207 MYO6 . GRCh38 chr6 75890140 75890141 + Frame_Shift_Ins INS - - A rs551348450 7316-376 BS_ECMB9SWH - - c.2751dup p.Gln918ThrfsTer24 p.Q918Tfs*24 ENST00000369977 26/35 84 73 6 57 54 0 MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369981,;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369985,NM_001300899.1;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369977,NM_004999.3;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369975,;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000627432,;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000615563,;MYO6,upstream_gene_variant,,ENST00000430435,; A ENSG00000196586 ENST00000369977 Transcript frameshift_variant 2881-2882/5597 2742-2743/3858 914-915/1285 -/X -/A rs551348450 1 1 MYO6 HGNC HGNC:7605 protein_coding YES CCDS34487.1 ENSP00000358994 Q9UM54 UPI00000727CF NM_004999.3 26/35 Gene3D:3.40.50.300,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF719,Low_complexity_(Seg):seg 0.0036 0.0083 0.0014 0.0061 0.002111 0.003756 HIGH 1 insertion 1 9 1 PASS AGA . . 0.0003741 0.0003944 0.0003085 0.0002428 0.0001528 4.852e-05 0.0005461 0.0006652 0.0001565 75890140 MUC12 . GRCh38 chr7 100991582 100991582 + Missense_Mutation SNP C C T novel 7316-376 BS_ECMB9SWH C C c.1019C>T p.Thr340Ile p.T340I ENST00000536621 2/12 79 66 8 30 30 0 MUC12,missense_variant,p.Thr483Ile,ENST00000379442,;MUC12,missense_variant,p.Thr340Ile,ENST00000536621,NM_001164462.1;,regulatory_region_variant,,ENSR00000327519,; T ENSG00000205277 ENST00000536621 Transcript missense_variant 1019/16321 1019/16008 340/5335 T/I aCt/aTt 1 1 MUC12 HGNC HGNC:7510 protein_coding YES CCDS55139.1 ENSP00000441929 Q9UKN1 UPI0001B25898 NM_001164462.1 deleterious(0.03) benign(0.003) 2/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF25 MODERATE 1 SNV 5 PASS ACT . . 100991582 KMT2E . GRCh38 chr7 105107860 105107860 + Missense_Mutation SNP C C T rs537953429 7316-376 BS_ECMB9SWH C C c.3403C>T p.Arg1135Trp p.R1135W ENST00000311117 22/27 84 65 19 41 38 1 KMT2E,missense_variant,p.Arg1135Trp,ENST00000311117,NM_182931.2;KMT2E,missense_variant,p.Arg1135Trp,ENST00000257745,NM_018682.3;KMT2E,upstream_gene_variant,,ENST00000473063,;AC005070.3,upstream_gene_variant,,ENST00000607968,;SRPK2,downstream_gene_variant,,ENST00000493638,;KMT2E,3_prime_UTR_variant,,ENST00000334884,;KMT2E,upstream_gene_variant,,ENST00000478079,; T ENSG00000005483 ENST00000311117 Transcript missense_variant 3948/6874 3403/5577 1135/1858 R/W Cgg/Tgg rs537953429,COSM5422644 1 1 KMT2E HGNC HGNC:18541 protein_coding YES CCDS34723.1 ENSP00000312379 Q8IZD2 UPI0000074133 NM_182931.2 deleterious_low_confidence(0) probably_damaging(0.998) 22/27 hmmpanther:PTHR44512,hmmpanther:PTHR44512:SF1 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 4.063e-06 8.96e-06 105107860 KMT2C . GRCh38 chr7 152273771 152273771 + Missense_Mutation SNP T T A rs10454320 7316-376 BS_ECMB9SWH T T c.946A>T p.Thr316Ser p.T316S ENST00000262189 7/59 91 73 17 50 49 1 KMT2C,missense_variant,p.Thr316Ser,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Thr316Ser,ENST00000355193,;KMT2C,missense_variant,p.Thr316Ser,ENST00000558084,; A ENSG00000055609 ENST00000262189 Transcript missense_variant 1165/16862 946/14736 316/4911 T/S Acc/Tcc rs10454320,COSM4162024,COSM4162023 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 tolerated(0.12) possibly_damaging(0.469) 7/59 Pfam_domain:PF13771,PROSITE_profiles:PS51805,SMART_domains:SM00249,cd15696 0,1,1 26014803 MODERATE 1 SNV 1 0,1,1 1 PASS GTG . . 0.5015 0.5031 0.5005 0.5001 0.5016 0.5016 0.5019 0.5018 0.5008 152273771 RBM12B . GRCh38 chr8 93734320 93734320 + Missense_Mutation SNP A A C rs1379472991 7316-376 BS_ECMB9SWH A A c.2091T>G p.Asp697Glu p.D697E ENST00000399300 3/3 73 59 9 41 40 0 RBM12B,missense_variant,p.Asp697Glu,ENST00000399300,NM_203390.2;RBM12B,intron_variant,,ENST00000517700,;RBM12B,intron_variant,,ENST00000627241,;FAM92A,downstream_gene_variant,,ENST00000518322,NM_145269.4;RBM12B,downstream_gene_variant,,ENST00000518597,;RBM12B,downstream_gene_variant,,ENST00000519109,;RBM12B,downstream_gene_variant,,ENST00000520560,;RBM12B,downstream_gene_variant,,ENST00000521947,;AC010834.1,downstream_gene_variant,,ENST00000517998,;RBM12B,intron_variant,,ENST00000520961,; C ENSG00000183808 ENST00000399300 Transcript missense_variant 2305/7269 2091/3006 697/1001 D/E gaT/gaG rs1379472991,COSM1674009 1 -1 RBM12B HGNC HGNC:32310 protein_coding YES CCDS43755.1 ENSP00000382239 Q8IXT5 UPI0000E9B14C NM_203390.2 tolerated_low_confidence(1) benign(0) 3/3 Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF28,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 2 0,1 PASS CAT . . 93734320 DNAJA1 . GRCh38 chr9 33026806 33026809 + Splice_Region DEL CAAA CAAA - rs781597842 7316-376 BS_ECMB9SWH CAAA CAAA c.133-5_133-2del ENST00000330899 84 45 34 44 44 0 DNAJA1,splice_region_variant,,ENST00000330899,NM_001314039.1,NM_001539.3;DNAJA1,intron_variant,,ENST00000495015,;APTX,upstream_gene_variant,,ENST00000460945,;APTX,upstream_gene_variant,,ENST00000473270,;APTX,upstream_gene_variant,,ENST00000489583,;APTX,upstream_gene_variant,,ENST00000495360,; - ENSG00000086061 ENST00000330899 Transcript splice_region_variant,intron_variant rs781597842 1 1 DNAJA1 HGNC HGNC:5229 protein_coding YES CCDS6533.1 ENSP00000369127 P31689 UPI0000129431 NM_001314039.1,NM_001539.3 2/8 LOW 1 deletion 1 2 PASS CTCAAAC . . 8.275e-06 1.809e-05 33026805 MUC5AC . GRCh38 chr11 1185895 1185895 + Missense_Mutation SNP C C T novel 7316-376 BS_ECMB9SWH C C c.7750C>T p.Pro2584Ser p.P2584S ENST00000621226 31/49 80 65 7 37 35 0 MUC5AC,missense_variant,p.Pro2584Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; T ENSG00000215182 ENST00000621226 Transcript missense_variant 7797/17448 7750/16965 2584/5654 P/S Cct/Tct 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated_low_confidence(0.57) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TCC . . 1185895 LRRC4C . GRCh38 chr11 40933635 40933635 + Splice_Region SNP C C T rs12806840 7316-376 BS_ECMB9SWH C C c.-407G>A ENST00000528697 2/7 82 72 7 34 34 0 LRRC4C,splice_region_variant,,ENST00000528697,NM_001258419.1;LRRC4C,intron_variant,,ENST00000530763,NM_020929.2;LRRC4C,splice_region_variant,,ENST00000534577,; T ENSG00000148948 ENST00000528697 Transcript splice_region_variant,5_prime_UTR_variant 244/2650 rs12806840 1 -1 LRRC4C HGNC HGNC:29317 protein_coding CCDS31464.1 ENSP00000437132 Q9HCJ2 UPI000000D9A7 NM_001258419.1 2/7 LOW 1 SNV 1 PASS CCT . . 40933635 PRB4 . GRCh38 chr12 11308556 11308556 + Missense_Mutation SNP T T C rs113771252 7316-376 BS_ECMB9SWH T T c.427A>G p.Arg143Gly p.R143G ENST00000279575 3/4 55 37 11 24 21 0 PRB4,missense_variant,p.Arg143Gly,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Arg143Gly,ENST00000535904,;PRB4,intron_variant,,ENST00000445719,;PRB4,intron_variant,,ENST00000621732,NM_001261399.2; C ENSG00000230657 ENST00000279575 Transcript missense_variant 464/916 427/744 143/247 R/G Aga/Gga rs113771252 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.7) benign(0) 3/4 Pfam_domain:PF15240,Pfam_domain:PF15240,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0.0020 0.0045 0.002 0.002 MODERATE 1 SNV 5 PASS CTT . . 3.695e-05 7.74e-05 0.0001112 2.978e-05 3.777e-05 11308556 AGAP2 . GRCh38 chr12 57734062 57734062 + Nonsense_Mutation SNP G G A rs1485087775 7316-376 BS_ECMB9SWH G G c.1513C>T p.Arg505Ter p.R505* ENST00000547588 5/19 85 41 44 35 34 0 AGAP2,stop_gained,p.Arg169Ter,ENST00000257897,NM_014770.3;AGAP2,stop_gained,p.Arg369Ter,ENST00000328568,;AGAP2,stop_gained,p.Arg505Ter,ENST00000547588,NM_001122772.2;AGAP2,upstream_gene_variant,,ENST00000549129,;TSPAN31,upstream_gene_variant,,ENST00000553221,; A ENSG00000135439 ENST00000547588 Transcript stop_gained 1513/3579 1513/3579 505/1192 R/* Cga/Tga rs1485087775,COSM694919,COSM1147089 1 -1 AGAP2 HGNC HGNC:16921 protein_coding YES CCDS44932.1 ENSP00000449241 F8VVT9 UPI00001AF80C NM_001122772.2 5/19 Low_complexity_(Seg):seg,PROSITE_profiles:PS51419,cd04103,hmmpanther:PTHR23180:SF256,hmmpanther:PTHR23180,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540 0,1,1 HIGH 1 SNV 1 0,1,1 PASS CGT . . 57734062 PTPRQ . GRCh38 chr12 80669467 80669467 + Splice_Region DEL A A - rs749210663 7316-376 BS_ECMB9SWH A A c.6453+12del ENST00000614701 75 66 5 59 58 0 PTPRQ,splice_region_variant,,ENST00000614701,;PTPRQ,splice_region_variant,,ENST00000616559,;PTPRQ,splice_region_variant,,ENST00000644991,NM_001145026.1; - ENSG00000139304 ENST00000614701 Transcript splice_region_variant,intron_variant rs749210663 1 1 PTPRQ HGNC HGNC:9679 protein_coding YES CCDS73501.1 ENSP00000482885 A0A087WZU1 UPI000192953C 41/44 LOW 1 deletion 5 9 1 PASS GTAA . . 0.0785 0.06418 0.1374 0.08041 0.1012 0.06566 0.06507 0.09588 0.07288 80669466 ACAN . GRCh38 chr15 88845634 88845634 + Missense_Mutation SNP G G A rs200709031 7316-376 BS_ECMB9SWH G G c.1181G>A p.Arg394Gln p.R394Q ENST00000439576 7/18 107 50 55 32 32 0 ACAN,missense_variant,p.Arg394Gln,ENST00000560601,;ACAN,missense_variant,p.Arg394Gln,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Arg394Gln,ENST00000617301,;ACAN,missense_variant,p.Arg394Gln,ENST00000559004,;ACAN,missense_variant,p.Arg394Gln,ENST00000561243,;ACAN,missense_variant,p.Arg394Gln,ENST00000352105,NM_001135.3;ACAN,missense_variant,p.Arg394Gln,ENST00000558207,; A ENSG00000157766 ENST00000439576 Transcript missense_variant 1555/8840 1181/7593 394/2530 R/Q cGa/cAa rs200709031 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 deleterious(0.03) benign(0.013) 7/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42 0.0002291 MODERATE 1 SNV 5 1 PASS CGA . . 4.475e-05 0.0001307 7.189e-05 3.249e-05 88845634 ZNF629 . GRCh38 chr16 30783625 30783625 + Missense_Mutation SNP T T C rs1249331408 7316-376 BS_ECMB9SWH T T c.703A>G p.Lys235Glu p.K235E ENST00000262525 3/3 81 68 11 27 27 0 ZNF629,missense_variant,p.Lys235Glu,ENST00000262525,NM_001080417.1,NM_001345970.1; C ENSG00000102870 ENST00000262525 Transcript missense_variant 911/6087 703/2610 235/869 K/E Aag/Gag rs1249331408 1 -1 ZNF629 HGNC HGNC:29008 protein_coding YES CCDS45463.1 ENSP00000262525 Q9UEG4 UPI00001C1FA5 NM_001080417.1,NM_001345970.1 tolerated(0.42) possibly_damaging(0.841) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTG . . 30783625 CBX4 . GRCh38 chr17 79834441 79834442 + In_Frame_Ins INS - - GTG rs562956582 7316-376 BS_ECMB9SWH - - c.1198_1200dup p.His400dup p.H400dup ENST00000269397 5/5 85 24 34 38 31 1 CBX4,inframe_insertion,p.His400dup,ENST00000269397,NM_003655.2;CBX4,downstream_gene_variant,,ENST00000448310,;CBX4,downstream_gene_variant,,ENST00000495122,;CBX4,downstream_gene_variant,,ENST00000494546,; GTG ENSG00000141582 ENST00000269397 Transcript inframe_insertion 1378-1379/2664 1200-1201/1683 400-401/560 -/H -/CAC rs562956582 1 -1 CBX4 HGNC HGNC:1554 protein_coding YES CCDS32758.1 ENSP00000269397 O00257 A0A0S2Z5B2 UPI000013D82E NM_003655.2 5/5 Gene3D:3.40.50.1980,hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF10,mobidb-lite MODERATE 1 insertion 1 PASS GCG . . 0.05305 0.01715 0.06344 0.07391 0.01934 0.06726 0.05801 0.06598 0.0422 79834441 ZNF85 . GRCh38 chr19 20949486 20949486 + Missense_Mutation SNP G G C rs878955753 7316-376 BS_ECMB9SWH G G c.972G>C p.Lys324Asn p.K324N ENST00000328178 4/4 57 45 9 34 34 0 ZNF85,missense_variant,p.Lys324Asn,ENST00000328178,NM_003429.4;ZNF85,missense_variant,p.Lys291Asn,ENST00000345030,;ZNF85,missense_variant,p.Lys272Asn,ENST00000596534,;ZNF85,downstream_gene_variant,,ENST00000595742,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000599885,NM_001256173.1;ZNF85,downstream_gene_variant,,ENST00000601284,NM_001256171.1;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,non_coding_transcript_exon_variant,,ENST00000601023,; C ENSG00000105750 ENST00000328178 Transcript missense_variant 1085/2296 972/1788 324/595 K/N aaG/aaC rs878955753,COSM6452550 1 1 ZNF85 HGNC HGNC:13160 protein_coding YES CCDS32977.1 ENSP00000329793 Q03923 UPI0000203897 NM_003429.4 tolerated(1) benign(0.012) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS AGC . . 20949486 SBSN . GRCh38 chr19 35527600 35527600 + Missense_Mutation SNP T T C rs753830440 7316-376 BS_ECMB9SWH T T c.682A>G p.Ile228Val p.I228V ENST00000452271 1/4 64 43 14 30 28 0 SBSN,missense_variant,p.Ile228Val,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; C ENSG00000189001 ENST00000452271 Transcript missense_variant 711/1945 682/1773 228/590 I/V Atc/Gtc rs753830440,COSM1721348 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 tolerated(1) benign(0) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3 0,1 MODERATE 1 SNV 1 0,1 PASS ATC . . 0.01086 0.04423 0.008577 0.005627 0.03995 0.003741 0.01058 0.01151 0.003684 35527600 ZNF420 . GRCh38 chr19 37127578 37127578 + Missense_Mutation SNP C C A rs147733919 7316-376 BS_ECMB9SWH C C c.587C>A p.Ala196Glu p.A196E ENST00000337995 5/5 78 70 5 33 32 0 ZNF420,missense_variant,p.Ala196Glu,ENST00000337995,NM_144689.3;ZNF420,missense_variant,p.Ala196Glu,ENST00000304239,;AC012309.1,intron_variant,,ENST00000588873,;ZNF420,upstream_gene_variant,,ENST00000585862,;ZNF420,downstream_gene_variant,,ENST00000587029,;ZNF420,downstream_gene_variant,,ENST00000589245,;ZNF420,downstream_gene_variant,,ENST00000590332,;AC012309.2,downstream_gene_variant,,ENST00000587645,;ZNF585A,intron_variant,,ENST00000588723,;ZNF420,upstream_gene_variant,,ENST00000586540,;ZNF585A,intron_variant,,ENST00000587817,;ZNF420,downstream_gene_variant,,ENST00000589461,; A ENSG00000197050 ENST00000337995 Transcript missense_variant 802/3535 587/2067 196/688 A/E gCa/gAa rs147733919 1 1 ZNF420 HGNC HGNC:20649 protein_coding YES CCDS12498.1 ENSP00000338770 Q8TAQ5 UPI000007049F NM_144689.3 tolerated(1) benign(0) 5/5 Gene3D:2.40.155.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF72,hmmpanther:PTHR24376:SF72,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0001163 MODERATE 1 SNV 1 PASS GCA . . 37127578 ZNF235 . GRCh38 chr19 44288071 44288071 + Missense_Mutation SNP T T C rs868155287 7316-376 BS_ECMB9SWH T T c.1364A>G p.Glu455Gly p.E455G ENST00000291182 5/5 76 68 7 36 36 0 ZNF235,missense_variant,p.Glu455Gly,ENST00000291182,NM_004234.4;ZNF235,intron_variant,,ENST00000589248,;ZNF235,intron_variant,,ENST00000589799,;ZNF235,downstream_gene_variant,,ENST00000591609,;ZNF235,non_coding_transcript_exon_variant,,ENST00000587921,;ZNF235,intron_variant,,ENST00000592844,;AC138473.1,upstream_gene_variant,,ENST00000605717,; C ENSG00000159917 ENST00000291182 Transcript missense_variant 1467/3188 1364/2217 455/738 E/G gAa/gGa rs868155287 1 -1 ZNF235 HGNC HGNC:12866 protein_coding YES CCDS33048.1 ENSP00000291182 Q14590 UPI00002025C2 NM_004234.4 tolerated(1) benign(0.078) 5/5 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF90,hmmpanther:PTHR24376:SF90,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTC . . 44288071 ZNF813 . GRCh38 chr19 53491488 53491488 + Missense_Mutation SNP T T G rs1188824040 7316-376 BS_ECMB9SWH T T c.1256T>G p.Val419Gly p.V419G ENST00000396403 4/4 56 49 5 38 36 0 ZNF813,missense_variant,p.Val419Gly,ENST00000396403,NM_001004301.3;ZNF813,downstream_gene_variant,,ENST00000468450,;ZNF813,downstream_gene_variant,,ENST00000490956,;AC022137.1,upstream_gene_variant,,ENST00000483735,; G ENSG00000198346 ENST00000396403 Transcript missense_variant 1384/6151 1256/1854 419/617 V/G gTt/gGt rs1188824040 1 1 ZNF813 HGNC HGNC:33257 protein_coding YES CCDS46172.1 ENSP00000379684 Q6ZN06 UPI000040C511 NM_001004301.3 tolerated(0.09) possibly_damaging(0.686) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS GTT . . 53491488 ZNF419 . GRCh38 chr19 57493946 57493946 + Missense_Mutation SNP G G C rs1294257419 7316-376 BS_ECMB9SWH G G c.1392G>C p.Leu464Phe p.L464F ENST00000424930 5/5 97 83 11 50 49 0 ZNF419,missense_variant,p.Leu431Phe,ENST00000347466,NM_001291743.1,NM_001098494.1;ZNF419,missense_variant,p.Leu464Phe,ENST00000424930,NM_001098491.1;ZNF419,missense_variant,p.Leu451Phe,ENST00000426954,NM_001098492.1;ZNF419,missense_variant,p.Leu463Phe,ENST00000221735,NM_024691.3;ZNF419,missense_variant,p.Leu417Phe,ENST00000415379,NM_001098496.1,NM_001098495.1;ZNF419,missense_variant,p.Leu450Phe,ENST00000442920,NM_001098493.1;ZNF419,splice_region_variant,,ENST00000354197,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000519310,NM_001291744.1;ZNF419,downstream_gene_variant,,ENST00000520540,NM_001291745.1;ZNF419,downstream_gene_variant,,ENST00000521137,;ZNF419,downstream_gene_variant,,ENST00000521754,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.1,intron_variant,,ENST00000599674,;AC003005.1,intron_variant,,ENST00000601674,; C ENSG00000105136 ENST00000424930 Transcript missense_variant 1621/2323 1392/1536 464/511 L/F ttG/ttC rs1294257419,COSM5856915,COSM5856914 1 1 ZNF419 HGNC HGNC:20648 protein_coding YES CCDS54325.1 ENSP00000388864 Q96HQ0 UPI0000E04CBA NM_001098491.1 tolerated(0.14) benign(0) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF633,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TGT . . 57493946 ZNF419 . GRCh38 chr19 57493972 57493972 + Missense_Mutation SNP A A G rs1238225222 7316-376 BS_ECMB9SWH A A c.1418A>G p.Lys473Arg p.K473R ENST00000424930 5/5 105 87 17 50 48 0 ZNF419,missense_variant,p.Lys440Arg,ENST00000347466,NM_001291743.1,NM_001098494.1;ZNF419,missense_variant,p.Lys473Arg,ENST00000424930,NM_001098491.1;ZNF419,missense_variant,p.Lys460Arg,ENST00000426954,NM_001098492.1;ZNF419,missense_variant,p.Lys472Arg,ENST00000221735,NM_024691.3;ZNF419,missense_variant,p.Lys426Arg,ENST00000415379,NM_001098496.1,NM_001098495.1;ZNF419,missense_variant,p.Lys459Arg,ENST00000442920,NM_001098493.1;ZNF419,missense_variant,p.Lys404Arg,ENST00000354197,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000519310,NM_001291744.1;ZNF419,downstream_gene_variant,,ENST00000520540,NM_001291745.1;ZNF419,downstream_gene_variant,,ENST00000521137,;ZNF419,downstream_gene_variant,,ENST00000521754,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.1,intron_variant,,ENST00000599674,;AC003005.1,intron_variant,,ENST00000601674,; G ENSG00000105136 ENST00000424930 Transcript missense_variant 1647/2323 1418/1536 473/511 K/R aAa/aGa rs1238225222,COSM6200409,COSM6200408 1 1 ZNF419 HGNC HGNC:20648 protein_coding YES CCDS54325.1 ENSP00000388864 Q96HQ0 UPI0000E04CBA NM_001098491.1 tolerated(0.11) benign(0.006) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF633,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAA . . 57493972 LAMA5 . GRCh38 chr20 62362444 62362444 + Missense_Mutation SNP C C T rs774112548 7316-376 BS_ECMB9SWH C C c.406G>A p.Gly136Ser p.G136S ENST00000252999 2/80 109 52 56 39 39 0 LAMA5,missense_variant,p.Gly136Ser,ENST00000252999,NM_005560.4;LAMA5,non_coding_transcript_exon_variant,,ENST00000370677,;,regulatory_region_variant,,ENSR00000139705,; T ENSG00000130702 ENST00000252999 Transcript missense_variant 473/11426 406/11088 136/3695 G/S Ggc/Agc rs774112548 1 -1 LAMA5 HGNC HGNC:6485 protein_coding YES CCDS33502.1 ENSP00000252999 O15230 UPI0000161FDC NM_005560.4 tolerated(0.25) possibly_damaging(0.817) 2/80 Gene3D:2.60.120.260,Pfam_domain:PF00055,SMART_domains:SM00136,PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574 MODERATE 1 SNV 1 PASS CCG . . 1.714e-05 1.88e-05 6.916e-05 62362444 ZMAT1 . GRCh38 chrX 101884267 101884267 + Missense_Mutation SNP C C T rs1339279148 7316-376 BS_ECMB9SWH C C c.1160G>A p.Arg387Lys p.R387K ENST00000372782 7/7 65 57 8 39 39 0 ZMAT1,missense_variant,p.Arg387Lys,ENST00000372782,NM_001011657.3;ZMAT1,missense_variant,p.Arg387Lys,ENST00000540921,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000494068,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000458570,NM_001282401.1;ZMAT1,non_coding_transcript_exon_variant,,ENST00000488347,NM_001282400.1;ZMAT1,downstream_gene_variant,,ENST00000490757,; T ENSG00000166432 ENST00000372782 Transcript missense_variant 1208/3185 1160/1917 387/638 R/K aGg/aAg rs1339279148 1 -1 ZMAT1 HGNC HGNC:29377 protein_coding YES CCDS35348.1 ENSP00000361868 Q5H9K5 UPI0001DD37FB NM_001011657.3 tolerated(0.66) benign(0.254) 7/7 hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF14 MODERATE 1 SNV 1 PASS CCT . . 101884267 PLS3 . GRCh38 chrX 115646398 115646398 + Splice_Region SNP G G A novel 7316-376 BS_ECMB9SWH G G c.1378-4G>A ENST00000355899 63 35 28 32 32 0 PLS3,splice_region_variant,,ENST00000289290,NM_001282337.1;PLS3,splice_region_variant,,ENST00000355899,NM_005032.6;PLS3,splice_region_variant,,ENST00000420625,;PLS3,splice_region_variant,,ENST00000497870,;PLS3,splice_region_variant,,ENST00000539310,NM_001136025.4,NM_001282338.1,NM_001172335.2;PLS3,splice_region_variant,,ENST00000481823,;PLS3,downstream_gene_variant,,ENST00000466150,; A ENSG00000102024 ENST00000355899 Transcript splice_region_variant,intron_variant 1 1 PLS3 HGNC HGNC:9091 protein_coding YES CCDS14568.1 ENSP00000348163 P13797 UPI000000D962 NM_005032.6 12/15 LOW 1 SNV 1 1 PASS TGC . . 115646398 TEX13D . GRCh38 chrX 124334206 124334206 + Missense_Mutation SNP T T G rs1248850930 7316-376 BS_ECMB9SWH T T c.1289T>G p.Ile430Ser p.I430S ENST00000632372 1/1 56 38 14 27 25 1 TEX13D,missense_variant,p.Ile430Ser,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; G ENSG00000282419 ENST00000632372 Transcript missense_variant 1547/4203 1289/2145 430/714 I/S aTc/aGc rs1248850930 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.89) benign(0.011) 1/1 MODERATE 1 SNV PASS ATC . . 124334206 MAGEC1 . GRCh38 chrX 141905624 141905624 + Missense_Mutation SNP A A G rs772994830 7316-376 BS_ECMB9SWH A A c.220A>G p.Lys74Glu p.K74E ENST00000285879 4/4 113 99 10 47 44 0 MAGEC1,missense_variant,p.Lys74Glu,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; G ENSG00000155495 ENST00000285879 Transcript missense_variant 506/4270 220/3429 74/1142 K/E Aag/Gag rs772994830,COSM6333541 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(1) benign(0.176) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,mobidb-lite 0.0003 0,1 MODERATE 1 SNV 1 0,1 PASS GAA . . 141905624 PNMA6E . GRCh38 chrX 153398417 153398417 + Missense_Mutation SNP T T C rs1423843096 7316-376 BS_ECMB9SWH T T c.433A>G p.Thr145Ala p.T145A ENST00000445091 2/2 72 52 11 27 26 0 PNMA6E,missense_variant,p.Thr145Ala,ENST00000445091,;PNMA6E,intron_variant,,ENST00000633844,NM_001351294.1,NM_001351293.1; C ENSG00000214897 ENST00000445091 Transcript missense_variant 681/2192 433/1944 145/647 T/A Aca/Gca rs1423843096 1 -1 PNMA6E HGNC HGNC:50767 protein_coding YES ENSP00000488500 A0A0J9YXQ4 UPI0006454748 tolerated(0.83) unknown(0) 2/2 hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF20,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GTG . . 153398417 ATAD3B . GRCh38 chr1 1495785 1495785 + Missense_Mutation SNP C C T rs9792879 7316-2141 BS_Q1SPJ467 C C c.1915C>T p.Pro639Ser p.P639S ENST00000308647 16/16 85 74 11 35 33 0 ATAD3B,missense_variant,p.Pro639Ser,ENST00000308647,NM_001317238.1,NM_031921.5;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000485748,; T ENSG00000160072 ENST00000308647 Transcript missense_variant 2031/2448 1915/1947 639/648 P/S Ccg/Tcg rs9792879,COSM226436 1 1 ATAD3B HGNC HGNC:24007 protein_coding YES CCDS30.1 ENSP00000311766 Q5T9A4 UPI000013E044 NM_001317238.1,NM_031921.5 tolerated_low_confidence(0.34) benign(0.001) 16/16 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 0.1787 0.3339 0.1321 0.07124 0.4117 0.2373 0.1309 0.1347 0.2306 1495785 HRNR . GRCh38 chr1 152214800 152214800 + Missense_Mutation SNP C C T rs199952550 7316-2141 BS_Q1SPJ467 C C c.6829G>A p.Gly2277Ser p.G2277S ENST00000368801 3/3 72 58 12 45 43 0 HRNR,missense_variant,p.Gly2277Ser,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;,regulatory_region_variant,,ENSR00000254438,; T ENSG00000197915 ENST00000368801 Transcript missense_variant 6905/9623 6829/8553 2277/2850 G/S Ggt/Agt rs199952550,COSM1319985 1 -1 HRNR HGNC HGNC:20846 protein_coding YES CCDS30859.1 ENSP00000357791 Q86YZ3 UPI00001D7CAD NM_001009931.2 tolerated(0.36) benign(0.178) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 0.1009 0.02511 0.2377 0.1275 0.2861 0.04268 0.04481 0.1107 0.1574 152214800 OR2T5 . GRCh38 chr1 248488658 248488658 + Nonsense_Mutation SNP C C T rs76332972 7316-2141 BS_Q1SPJ467 C C c.70C>T p.Arg24Ter p.R24* ENST00000641363 1/1 75 60 13 30 29 0 OR2T5,stop_gained,p.Arg24Ter,ENST00000641363,NM_001004697.1;AC138089.1,upstream_gene_variant,,ENST00000450847,; T ENSG00000203661 ENST00000641363 Transcript stop_gained 70/2525 70/948 24/315 R/* Cga/Tga rs76332972,COSM221537 1 1 OR2T5 HGNC HGNC:15017 protein_coding YES CCDS31118.1 ENSP00000493066 Q6IEZ7 UPI0000041C43 NM_001004697.1 1/1 Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF568,Superfamily_domains:SSF81321 0,1 HIGH SNV 0,1 PASS ACG . . 0.05752 0.1094 0.07441 0.02708 0.2074 0.0345 0.02306 0.03923 0.1134 248488658 OR2T5 . GRCh38 chr1 248488710 248488710 + Missense_Mutation SNP A A T rs150528589 7316-2141 BS_Q1SPJ467 A A c.122A>T p.Lys41Met p.K41M ENST00000641363 1/1 64 52 10 29 29 0 OR2T5,missense_variant,p.Lys41Met,ENST00000641363,NM_001004697.1;AC138089.1,upstream_gene_variant,,ENST00000450847,; T ENSG00000203661 ENST00000641363 Transcript missense_variant 122/2525 122/948 41/315 K/M aAg/aTg rs150528589,COSM249005 1 1 OR2T5 HGNC HGNC:15017 protein_coding YES CCDS31118.1 ENSP00000493066 Q6IEZ7 UPI0000041C43 NM_001004697.1 tolerated(1) benign(0) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF568,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15421 0.3916 0.7307 0.2147 0.3542 0.1889 0.3057 0.4874 0.07848 0,1 MODERATE SNV 0,1 PASS AAG . . 0.209 0.6658 0.2139 0.1427 0.345 0.168 0.1248 0.1582 0.2356 248488710 OR2T5 . GRCh38 chr1 248488722 248488722 + Missense_Mutation SNP G G A rs139516854 7316-2141 BS_Q1SPJ467 G G c.134G>A p.Gly45Glu p.G45E ENST00000641363 1/1 58 48 8 26 26 0 OR2T5,missense_variant,p.Gly45Glu,ENST00000641363,NM_001004697.1;AC138089.1,upstream_gene_variant,,ENST00000450847,; A ENSG00000203661 ENST00000641363 Transcript missense_variant 134/2525 134/948 45/315 G/E gGa/gAa rs139516854,COSM3997419 1 1 OR2T5 HGNC HGNC:15017 protein_coding YES CCDS31118.1 ENSP00000493066 Q6IEZ7 UPI0000041C43 NM_001004697.1 deleterious(0.02) benign(0.102) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF568,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15421 0,1 MODERATE SNV 0,1 PASS GGA . . 0.1892 0.6392 0.1902 0.1224 0.3263 0.1556 0.1054 0.1426 0.2134 248488722 PLXNB1 . GRCh38 chr3 48420200 48420200 + Missense_Mutation SNP T T G rs868708658 7316-2141 BS_Q1SPJ467 T T c.2086A>C p.Thr696Pro p.T696P ENST00000358536 11/38 62 48 10 47 42 1 PLXNB1,missense_variant,p.Thr696Pro,ENST00000358536,NM_002673.5;PLXNB1,missense_variant,p.Thr696Pro,ENST00000296440,NM_001130082.2;PLXNB1,intron_variant,,ENST00000456774,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000465117,;PLXNB1,downstream_gene_variant,,ENST00000473683,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,intron_variant,,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000462738,;PLXNB1,upstream_gene_variant,,ENST00000464294,;PLXNB1,upstream_gene_variant,,ENST00000467913,; G ENSG00000164050 ENST00000358536 Transcript missense_variant 2356/7308 2086/6408 696/2135 T/P Aca/Cca rs868708658,COSM6412316 1 -1 PLXNB1 HGNC HGNC:9103 protein_coding YES CCDS2765.1 ENSP00000351338 O43157 UPI0000038131 NM_002673.5 tolerated(0.14) benign(0) 11/38 Gene3D:2.60.40.10,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.000137 0.0001357 0.0002692 0.0002916 0.0004032 7.001e-05 0.0002042 48420200 KPNA4 . GRCh38 chr3 160530944 160530945 + Splice_Region INS - - A rs773994710 7316-2141 BS_Q1SPJ467 - - c.384-5dup ENST00000334256 100 87 7 50 50 0 KPNA4,splice_region_variant,,ENST00000334256,NM_002268.4; A ENSG00000186432 ENST00000334256 Transcript splice_region_variant,intron_variant rs773994710 1 -1 KPNA4 HGNC HGNC:6397 protein_coding YES CCDS3191.1 ENSP00000334373 O00629 UPI0000001648 NM_002268.4 6/16 0.007743 0.003879 LOW 1 insertion 1 PASS ACA . . 0.001654 0.002064 0.003862 0.00242 0.001795 9.487e-05 0.001259 0.002612 0.001772 160530944 KIAA1211 . GRCh38 chr4 56316099 56316101 + In_Frame_Del DEL AGA AGA - rs781650251 7316-2141 BS_Q1SPJ467 AGA AGA c.2609_2611del p.Lys870del p.K870del ENST00000264229 8/11 76 64 5 35 30 0 KIAA1211,inframe_deletion,p.Lys870del,ENST00000264229,NM_020722.1;KIAA1211,inframe_deletion,p.Lys870del,ENST00000504228,;KIAA1211,inframe_deletion,p.Lys863del,ENST00000541073,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,downstream_gene_variant,,ENST00000646253,;KIAA1211,downstream_gene_variant,,ENST00000505410,;MRPL22P1,downstream_gene_variant,,ENST00000505398,; - ENSG00000109265 ENST00000264229 Transcript inframe_deletion 2988-2990/4914 2597-2599/3702 866-867/1233 QK/Q cAGAag/cag rs781650251,COSM1430289 1 1 KIAA1211 HGNC HGNC:29219 protein_coding YES CCDS43230.1 ENSP00000264229 Q6ZU35 UPI0000237309 NM_020722.1 8/11 hmmpanther:PTHR45017,mobidb-lite 0.003091 0.003776 0,1 MODERATE 1 deletion 2 12 0,1 PASS ACAGAA . . 0.0001758 2.991e-05 0.0001163 0.0001391 0.0002879 0.0001831 0.0001303 56316098 ERAP2 . GRCh38 chr5 96896864 96896864 + Splice_Site SNP G G A rs75364820 7316-2141 BS_Q1SPJ467 G G c.1503+1G>A p.X501_splice ENST00000437043 75 70 5 38 37 0 ERAP2,splice_donor_variant,,ENST00000379904,;ERAP2,splice_donor_variant,,ENST00000437043,NM_022350.3,NM_001130140.1;ERAP2,splice_donor_variant,,ENST00000510373,;ERAP2,downstream_gene_variant,,ENST00000508077,;AC009126.1,intron_variant,,ENST00000501338,;ERAP2,splice_donor_variant,,ENST00000515095,;ERAP2,splice_donor_variant,,ENST00000513084,;ERAP2,splice_donor_variant,,ENST00000513368,;ERAP2,splice_donor_variant,,ENST00000515387,;,regulatory_region_variant,,ENSR00000184386,; A ENSG00000164308 ENST00000437043 Transcript splice_donor_variant rs75364820,COSM4607120 1 1 ERAP2 HGNC HGNC:29499 protein_coding YES CCDS4086.1 ENSP00000400376 Q6P179 UPI0000036336 NM_022350.3,NM_001130140.1 9/18 0,1 HIGH 1 SNV 1 0,1 PASS TGT . . 0.0001684 0.0006473 0.0001073 0.0001624 0.0001944 96896864 LPAL2 . GRCh38 chr6 160467023 160467024 + Splice_Region INS - - A rs1193900964 7316-2141 BS_Q1SPJ467 - - n.1752-7dup ENST00000454031 64 50 8 35 31 0 LPAL2,splice_region_variant,,ENST00000435757,;LPAL2,splice_region_variant,,ENST00000606083,;LPAL2,downstream_gene_variant,,ENST00000335388,;LPAL2,splice_region_variant,,ENST00000454031,; A ENSG00000213071 ENST00000454031 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1193900964 1 -1 LPAL2 HGNC HGNC:21210 transcribed_unprocessed_pseudogene YES 11/16 LOW 1 insertion PASS AGA . . 160467023 ZNF853 . GRCh38 chr7 6622117 6622117 + Missense_Mutation SNP C C A 7316-2141 BS_Q1SPJ467 C C c.1126C>A p.Gln376Lys p.Q376K ENST00000457543 3/3 85 58 26 40 39 0 ZNF853,missense_variant,p.Gln376Lys,ENST00000457543,NM_017560.1,NM_001353546.1; A ENSG00000236609 ENST00000457543 Transcript missense_variant 1684/3857 1126/1980 376/659 Q/K Cag/Aag COSM6360043,COSM6360042 1 1 ZNF853 HGNC HGNC:21767 protein_coding YES CCDS59048.1 ENSP00000455585 P0CG23 UPI00018E24EF NM_017560.1,NM_001353546.1 deleterious_low_confidence(0) benign(0.094) 3/3 Gene3D:3.30.160.60,Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg 1,1 MODERATE 1 SNV 3 1,1 PASS GCA . . 6622117 IGF2BP3 . GRCh38 chr7 23361585 23361585 + Missense_Mutation SNP G G A rs1486180154 7316-2141 BS_Q1SPJ467 G G c.350C>T p.Ser117Leu p.S117L ENST00000258729 5/15 80 63 15 55 54 0 IGF2BP3,missense_variant,p.Ser117Leu,ENST00000258729,NM_006547.2;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000491719,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000468263,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000474105,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000466809,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000492771,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000479504,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000469723,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000465058,;IGF2BP3,3_prime_UTR_variant,,ENST00000421467,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000476938,;AC021876.1,upstream_gene_variant,,ENST00000425959,; A ENSG00000136231 ENST00000258729 Transcript missense_variant 707/4250 350/1740 117/579 S/L tCg/tTg rs1486180154 1 -1 IGF2BP3 HGNC HGNC:28868 protein_coding YES CCDS5382.1 ENSP00000258729 O00425 UPI0000117172 NM_006547.2 deleterious(0.01) possibly_damaging(0.804) 5/15 Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF158,SMART_domains:SM00360,Superfamily_domains:SSF54928,cd12630 MODERATE 1 SNV 1 PASS CGA . . 23361585 SLC4A2 . GRCh38 chr7 151066953 151066953 + Missense_Mutation SNP C C T novel 7316-2141 BS_Q1SPJ467 C C c.926C>T p.Thr309Ile p.T309I ENST00000485713 7/23 70 59 11 32 31 0 SLC4A2,missense_variant,p.Thr309Ile,ENST00000485713,NM_001199692.1;SLC4A2,missense_variant,p.Thr295Ile,ENST00000461735,NM_001199694.1;SLC4A2,missense_variant,p.Thr309Ile,ENST00000413384,NM_003040.3;SLC4A2,missense_variant,p.Thr300Ile,ENST00000392826,NM_001199693.1;SLC4A2,downstream_gene_variant,,ENST00000463414,;SLC4A2,downstream_gene_variant,,ENST00000482950,;SLC4A2,downstream_gene_variant,,ENST00000483786,;SLC4A2,downstream_gene_variant,,ENST00000488420,;SLC4A2,downstream_gene_variant,,ENST00000490898,;SLC4A2,downstream_gene_variant,,ENST00000466368,;SLC4A2,upstream_gene_variant,,ENST00000482697,;SLC4A2,upstream_gene_variant,,ENST00000460010,;SLC4A2,upstream_gene_variant,,ENST00000469355,;SLC4A2,upstream_gene_variant,,ENST00000480107,;SLC4A2,upstream_gene_variant,,ENST00000493040,;SLC4A2,downstream_gene_variant,,ENST00000494125,;SLC4A2,upstream_gene_variant,,ENST00000494298,; T ENSG00000164889 ENST00000485713 Transcript missense_variant 1966/4925 926/3726 309/1241 T/I aCa/aTa 1 1 SLC4A2 HGNC HGNC:11028 protein_coding YES CCDS5917.1 ENSP00000419412 P04920 UPI000013EFE9 NM_001199692.1 tolerated(0.2) benign(0.017) 7/23 Prints_domain:PR01188,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF14,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ACA . . 151066953 RP1 . GRCh38 chr8 54656134 54656134 + Nonsense_Mutation SNP C C T rs922244606 7316-2141 BS_Q1SPJ467 C C c.1090C>T p.Arg364Ter p.R364* ENST00000637698 6/29 79 47 31 31 31 0 RP1,stop_gained,p.Arg364Ter,ENST00000637698,;RP1,stop_gained,p.Arg364Ter,ENST00000636932,; T ENSG00000104237 ENST00000637698 Transcript stop_gained 1238/6177 1090/4251 364/1416 R/* Cga/Tga rs922244606,COSM4969986 1 1 RP1 HGNC HGNC:10263 protein_coding ENSP00000490104 A0A1B0GUH0 UPI0007E52CEE 6/29 Gene3D:2.60.60.20,Pfam_domain:PF01477,PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF177,SMART_domains:SM00308,Superfamily_domains:SSF49723 0,1 HIGH 1 SNV 5 0,1 1 PASS ACG . . 2.319e-05 4.228e-05 3.984e-05 54656134 TG . GRCh38 chr8 132882886 132882886 + Missense_Mutation SNP G G A rs753308520 7316-2141 BS_Q1SPJ467 G G c.962G>A p.Arg321Gln p.R321Q ENST00000220616 8/48 59 48 10 40 38 0 TG,missense_variant,p.Arg321Gln,ENST00000220616,NM_003235.4;TG,non_coding_transcript_exon_variant,,ENST00000520769,;TG,downstream_gene_variant,,ENST00000523901,; A ENSG00000042832 ENST00000220616 Transcript missense_variant 1002/8450 962/8307 321/2768 R/Q cGa/cAa rs753308520,COSM3834078 1 1 TG HGNC HGNC:11764 protein_coding YES CCDS34944.1 ENSP00000220616 P01266 UPI000013C79F NM_003235.4 tolerated(0.61) benign(0.406) 8/48 Gene3D:4.10.800.10,Pfam_domain:PF00086,PIRSF_domain:PIRSF001831,PROSITE_patterns:PS00484,PROSITE_profiles:PS51162,hmmpanther:PTHR14093,hmmpanther:PTHR14093:SF19,SMART_domains:SM00211,Superfamily_domains:SSF57610,cd00191 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGA . . 3.249e-05 6.267e-05 3.249e-05 132882886 PRSS3 . GRCh38 chr9 33796805 33796809 + Splice_Region DEL AAGTG AAGTG - rs757067965 7316-2141 BS_Q1SPJ467 AAGTG AAGTG c.371+3_371+7del ENST00000361005 95 86 6 57 57 0 PRSS3,splice_region_variant,,ENST00000342836,NM_001197097.2;PRSS3,splice_region_variant,,ENST00000361005,NM_007343.3;PRSS3,splice_region_variant,,ENST00000379405,NM_002771.3;PRSS3,splice_region_variant,,ENST00000429677,NM_001197098.1;PRSS3,splice_region_variant,,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,splice_region_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00000334924,; - ENSG00000010438 ENST00000361005 Transcript splice_region_variant,intron_variant rs757067965,COSM5110361,COSM5110362,COSM5110363,COSM5110364 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 2/4 0,1,1,1,1 LOW 1 deletion 1 0,1,1,1,1 PASS GTAAGTGT . . 33796804 ARMC4 . GRCh38 chr10 27995057 27995057 + Missense_Mutation SNP G G A rs200574441 7316-2141 BS_Q1SPJ467 G G c.86C>T p.Ala29Val p.A29V ENST00000305242 2/20 76 69 5 39 38 0 ARMC4,missense_variant,p.Ala29Val,ENST00000305242,NM_018076.4,NM_001312689.1,NM_001290020.1;ARMC4,missense_variant,p.Ala29Val,ENST00000486279,;AL390866.1,upstream_gene_variant,,ENST00000425137,; A ENSG00000169126 ENST00000305242 Transcript missense_variant 179/3572 86/3135 29/1044 A/V gCg/gTg rs200574441 1 -1 ARMC4 HGNC HGNC:25583 protein_coding YES CCDS7157.1 ENSP00000306410 Q5T2S8 A0A140VKF7 UPI00001A95E1 NM_018076.4,NM_001312689.1,NM_001290020.1 tolerated(0.09) benign(0.003) 2/20 0.0018 0.001 0.0082 uncertain_significance MODERATE 1 SNV 1 1 1 PASS CGC . . 0.0004655 0.0001308 5.965e-05 4.512e-05 3.608e-05 0.0001831 0.003407 27995057 EEF1A1P33 . GRCh38 chr12 96900767 96900768 + Splice_Region INS - - T rs1411967863 7316-2141 BS_Q1SPJ467 - - n.1295-4dup ENST00000554413 71 59 5 45 41 0 EEF1A1P33,splice_region_variant,,ENST00000554413,; T ENSG00000258846 ENST00000554413 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1411967863 1 -1 EEF1A1P33 HGNC HGNC:37911 processed_pseudogene YES 2/2 LOW 1 insertion PASS TGT . . 96900767 KIAA1328 . GRCh38 chr18 36885549 36885549 + Splice_Region SNP T T A rs201927424 7316-2141 BS_Q1SPJ467 T T c.333-8T>A ENST00000280020 77 67 6 34 33 0 KIAA1328,splice_region_variant,,ENST00000280020,NM_020776.1,NM_001353919.1,NM_001353918.1;KIAA1328,splice_region_variant,,ENST00000587139,NM_001322327.1;KIAA1328,splice_region_variant,,ENST00000591619,;KIAA1328,splice_region_variant,,ENST00000592521,;KIAA1328,splice_region_variant,,ENST00000590617,;KIAA1328,splice_region_variant,,ENST00000592611,; A ENSG00000150477 ENST00000280020 Transcript splice_region_variant,intron_variant rs201927424 1 1 KIAA1328 HGNC HGNC:29248 protein_coding YES CCDS45855.1 ENSP00000280020 Q86T90 UPI00001C1FF0 NM_020776.1,NM_001353919.1,NM_001353918.1 4/9 LOW 1 SNV 1 PASS TTA . . 0.009894 0.001704 0.01174 0.01811 0.007154 0.01272 0.007789 0.008369 36885549 SLC25A5 . GRCh38 chrX 119470922 119470922 + Missense_Mutation SNP C C T rs796575701 7316-2141 BS_Q1SPJ467 C C c.761C>T p.Thr254Met p.T254M ENST00000317881 4/4 47 40 6 27 27 0 SLC25A5,missense_variant,p.Thr254Met,ENST00000317881,NM_001152.4;SLC25A5-AS1,upstream_gene_variant,,ENST00000445759,;SLC25A5-AS1,upstream_gene_variant,,ENST00000446986,;SLC25A5-AS1,upstream_gene_variant,,ENST00000609227,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000460013,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000463551,;SLC25A5,downstream_gene_variant,,ENST00000475354,;SLC25A5-AS1,upstream_gene_variant,,ENST00000395539,; T ENSG00000005022 ENST00000317881 Transcript missense_variant 877/1274 761/897 254/298 T/M aCg/aTg rs796575701,COSM202223 1 1 SLC25A5 HGNC HGNC:10991 protein_coding YES CCDS14578.1 ENSP00000360671 P05141 UPI000013C4ED NM_001152.4 tolerated(0.05) possibly_damaging(0.669) 4/4 PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF612,Pfam_domain:PF00153,Gene3D:1.50.40.10,Superfamily_domains:SSF103506 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 119470922 USP9Y . GRCh38 chrY 12856848 12856848 + Splice_Region DEL A A - rs771808116 7316-2141 BS_Q1SPJ467 A A c.7434+14del ENST00000338981 41 30 8 29 26 0 USP9Y,splice_region_variant,,ENST00000338981,NM_004654.3;USP9Y,splice_region_variant,,ENST00000453031,;USP9Y,splice_region_variant,,ENST00000426564,;USP9Y,non_coding_transcript_exon_variant,,ENST00000471409,; - ENSG00000114374 ENST00000338981 Transcript splice_region_variant,intron_variant rs771808116,COSM1735963 1 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507 UPI00001AE67D NM_004654.3 44/45 0,1 LOW 1 deletion 1 11 0,1 1 PASS GTAA . . 0.0004212 0.006536 12856847 MT-CO3 . GRCh38 chrM 9942 9942 + Missense_Mutation SNP G G A rs28715301 7316-2141 BS_Q1SPJ467 G G c.736G>A p.Asp246Asn p.D246N ENST00000362079 1/1 25157 23978 889 4380 4335 0 MT-CO3,missense_variant,p.Asp246Asn,ENST00000362079,;MT-ND3,upstream_gene_variant,,ENST00000361227,;MT-ND4L,upstream_gene_variant,,ENST00000361335,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,upstream_gene_variant,,ENST00000387429,;MT-TR,upstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,; A ENSG00000198938 ENST00000362079 Transcript missense_variant 736/784 736/784 246/261 D/N Gat/Aat rs28715301 1 1 MT-CO3 HGNC HGNC:7422 protein_coding YES ENSP00000354982 P00414 Q7GIM7 UPI0000000369 deleterious_low_confidence(0.02) probably_damaging(0.995) 1/1 Gene3D:1.20.120.80,Pfam_domain:PF00510,PROSITE_profiles:PS50253,hmmpanther:PTHR11403,hmmpanther:PTHR11403:SF7,Superfamily_domains:SSF81452,Transmembrane_helices:TMhelix,cd01665 MODERATE 1 SNV 1 PASS AGA . . 9942 SLC9B1 . GRCh38 chr4 102905600 102905600 + Missense_Mutation SNP T T C rs879081874 7316-2671 BS_2G2VJT4R T T c.1246A>G p.Thr416Ala p.T416A ENST00000296422 11/12 84 72 12 45 45 0 SLC9B1,missense_variant,p.Thr416Ala,ENST00000296422,NM_139173.3;SLC9B1,missense_variant,p.Thr416Ala,ENST00000394789,NM_001100874.2;SLC9B1,downstream_gene_variant,,ENST00000511253,;SLC9B1,intron_variant,,ENST00000509614,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,downstream_gene_variant,,ENST00000510243,; C ENSG00000164037 ENST00000296422 Transcript missense_variant 1388/1879 1246/1548 416/515 T/A Aca/Gca rs879081874,COSM3733506 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 deleterious(0.05) benign(0.246) 11/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.0001455 0.0006806 0.0001849 0.0001027 0.0003015 9.131e-05 9.977e-05 102905600 TRBV6-7 . GRCh38 chr7 142488238 142488238 + Missense_Mutation SNP A A G rs766596151 7316-2671 BS_2G2VJT4R A A c.287A>G p.Lys96Arg p.K96R ENST00000390373 2/2 76 63 10 31 31 0 TRBV6-7,missense_variant,p.Lys96Arg,ENST00000390373,;TRBV7-6,upstream_gene_variant,,ENST00000390374,; G ENSG00000253188 ENST00000390373 Transcript missense_variant 287/344 287/344 96/114 K/R aAg/aGg rs766596151 1 1 TRBV6-7 HGNC HGNC:12232 TR_V_gene YES ENSP00000374896 A0A0A0MS04 UPI0003F483DF tolerated(0.07) benign(0) 2/2 MODERATE 1 SNV PASS AAG . . 142488238 MUC19 . GRCh38 chr12 40503717 40503717 + Splice_Region SNP C C T rs796932347 7316-2671 BS_2G2VJT4R C C n.19048C>T ENST00000454784 68/173 77 70 6 48 47 0 MUC19,splice_region_variant,,ENST00000454784,NM_173600.2; T ENSG00000205592 ENST00000454784 Transcript splice_region_variant,non_coding_transcript_exon_variant 19048/24829 rs796932347 1 1 MUC19 HGNC HGNC:14362 processed_transcript NM_173600.2 68/173 LOW 1 SNV 5 PASS GCA . . 40503717 PHLPP1 . GRCh38 chr18 62715754 62715795 + In_Frame_Del DEL CGGCGGCCGCCGCTGCGGCAGCAGCAGCAGCAGCGGCGGCCG CGGCGGCCGCCGCTGCGGCAGCAGCAGCAGCAGCGGCGGCCG - rs1463955857 7316-2671 BS_2G2VJT4R CGGCGGCCGCCGCTGCGGCAGCAGCAGCAGCAGCGGCGGCCG CGGCGGCCGCCGCTGCGGCAGCAGCAGCAGCAGCGGCGGCCG c.78_119del p.Ala27_Ala40del p.A27_A40del ENST00000262719 1/17 35 25 9 48 48 0 PHLPP1,inframe_deletion,p.Ala27_Ala40del,ENST00000262719,NM_194449.3;,regulatory_region_variant,,ENSR00000104398,; - ENSG00000081913 ENST00000262719 Transcript inframe_deletion 305-346/6390 71-112/5154 24-38/1717 PAAAAAAAAAAAAAA/P cCGGCGGCCGCCGCTGCGGCAGCAGCAGCAGCAGCGGCGGCCGcg/ccg rs1463955857 1 1 PHLPP1 HGNC HGNC:20610 protein_coding YES CCDS45881.2 ENSP00000262719 O60346 UPI000051AE2E NM_194449.3 1/17 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 deletion 1 7 PASS TCCGGCGGCCGCCGCTGCGGCAGCAGCAGCAGCAGCGGCGGCCGC . . 62715753 HMGN1P34 . GRCh38 chrX 78519790 78519791 + Splice_Region INS - - T rs200318843 7316-2671 BS_2G2VJT4R - - n.100-8dup ENST00000413023 34 22 6 20 15 0 HMGN1P34,splice_region_variant,,ENST00000413023,; T ENSG00000224755 ENST00000413023 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs200318843 1 -1 HMGN1P34 HGNC HGNC:39378 processed_pseudogene YES 1/1 0.2374 LOW 1 insertion PASS CCT . . 78519790 KLF18 . GRCh38 chr1 44139987 44139987 + Missense_Mutation SNP G G T novel 7316-949 BS_D4YJXS6R G G c.1645C>A p.Pro549Thr p.P549T ENST00000634670 1/2 34 18 9 21 19 0 KLF18,missense_variant,p.Pro549Thr,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; T ENSG00000283039 ENST00000634670 Transcript missense_variant 1645/3159 1645/3159 549/1052 P/T Ccc/Acc 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.07) benign(0) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GGG . . 44139987 FLG2 . GRCh38 chr1 152352111 152352111 + Missense_Mutation SNP C C A rs1292844325 7316-949 BS_D4YJXS6R C C c.5675G>T p.Gly1892Val p.G1892V ENST00000388718 3/3 78 68 9 41 41 0 FLG2,missense_variant,p.Gly1892Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 5748/9124 5675/7176 1892/2391 G/V gGc/gTc rs1292844325,COSM6264550 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCC . . 152352111 MEF2D . GRCh38 chr1 156468172 156468172 + Missense_Mutation SNP A A C novel 7316-949 BS_D4YJXS6R A A c.1375T>G p.Phe459Val p.F459V ENST00000348159 11/12 70 59 10 26 24 0 MEF2D,missense_variant,p.Phe459Val,ENST00000348159,NM_005920.3;MEF2D,missense_variant,p.Phe451Val,ENST00000464356,;MEF2D,missense_variant,p.Phe452Val,ENST00000360595,NM_001271629.1;MEF2D,3_prime_UTR_variant,,ENST00000368240,;MEF2D,3_prime_UTR_variant,,ENST00000475587,; C ENSG00000116604 ENST00000348159 Transcript missense_variant 1856/5965 1375/1566 459/521 F/V Ttc/Gtc 1 -1 MEF2D HGNC HGNC:6997 protein_coding YES CCDS1143.1 ENSP00000271555 Q14814 UPI000012EEB6 NM_005920.3 tolerated(0.48) benign(0.084) 11/12 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:2.60.200.20 MODERATE 1 SNV 1 PASS AAC . . 156468172 KCNJ9 . GRCh38 chr1 160084044 160084044 + Missense_Mutation SNP A A C novel 7316-949 BS_D4YJXS6R A A c.14A>C p.Asn5Thr p.N5T ENST00000368088 2/3 77 64 9 34 34 0 KCNJ9,missense_variant,p.Asn5Thr,ENST00000368088,NM_004983.2;AL121987.1,downstream_gene_variant,,ENST00000435580,;,regulatory_region_variant,,ENSR00000014498,; C ENSG00000162728 ENST00000368088 Transcript missense_variant 256/4170 14/1182 5/393 N/T aAc/aCc 1 1 KCNJ9 HGNC HGNC:6270 protein_coding YES CCDS1194.1 ENSP00000357067 Q92806 UPI000013E1B3 NM_004983.2 tolerated(0.19) benign(0.017) 2/3 mobidb-lite,hmmpanther:PTHR11767:SF17,hmmpanther:PTHR11767,PIRSF_domain:PIRSF005465,Prints_domain:PR01329 MODERATE 1 SNV 1 PASS AAC . . 160084044 MYO7B . GRCh38 chr2 127578272 127578272 + Missense_Mutation SNP A A C novel 7316-949 BS_D4YJXS6R A A c.989A>C p.Asn330Thr p.N330T ENST00000428314 9/47 66 59 5 19 19 0 MYO7B,missense_variant,p.Asn330Thr,ENST00000428314,NM_001080527.1;MYO7B,missense_variant,p.Asn330Thr,ENST00000409816,; C ENSG00000169994 ENST00000428314 Transcript missense_variant 1042/6715 989/6351 330/2116 N/T aAt/aCt 1 1 MYO7B HGNC HGNC:7607 protein_coding YES CCDS46405.1 ENSP00000415090 Q6PIF6 UPI00006C04F0 NM_001080527.1 deleterious(0) probably_damaging(1) 9/47 PROSITE_profiles:PS51456,cd01381,hmmpanther:PTHR13140:SF505,hmmpanther:PTHR13140,Pfam_domain:PF00063,Gene3D:3.40.50.300,SMART_domains:SM00242,Superfamily_domains:SSF52540 MODERATE 1 SNV 5 PASS AAT . . 127578272 CTNNB1 . GRCh38 chr3 41224612 41224612 + Missense_Mutation SNP G G A rs121913399 7316-949 BS_D4YJXS6R G G c.100G>A p.Gly34Arg p.G34R ENST00000645320 3/15 58 33 25 49 48 0 CTNNB1,missense_variant,p.Gly34Arg,ENST00000645320,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000349496,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000441708,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Gly34Arg,ENST00000433400,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000644524,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000644678,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000642986,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000645900,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000643297,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000643541,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Gly34Arg,ENST00000643031,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000646381,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000642836,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000645493,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000645210,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000642992,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000645276,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000644867,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000644873,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000642886,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000643977,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000647264,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000646174,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000642315,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000643992,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000647390,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000645982,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000644138,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000642248,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000646116,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000646725,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000642426,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000405570,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000646369,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000647413,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; A ENSG00000168036 ENST00000645320 Transcript missense_variant 1943/4735 100/2346 34/781 G/R Gga/Aga rs121913399,COSM5686,COSM5684,COSM3660550 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0) probably_damaging(1) 3/15 mobidb-lite,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 likely_pathogenic 1,1,1,1 MODERATE 1 SNV 1,1,1,1 1 PASS TGG . . 41224612 MUC4 . GRCh38 chr3 195784025 195784025 + Missense_Mutation SNP G G A rs747010184 7316-949 BS_D4YJXS6R G G c.7555C>T p.Pro2519Ser p.P2519S ENST00000463781 2/25 63 32 9 48 40 1 MUC4,missense_variant,p.Pro2519Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2519Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2519Ser,ENST00000478156,;MUC4,missense_variant,p.Pro2519Ser,ENST00000466475,;MUC4,missense_variant,p.Pro2519Ser,ENST00000477756,;MUC4,missense_variant,p.Pro2519Ser,ENST00000477086,;MUC4,missense_variant,p.Pro2519Ser,ENST00000480843,;MUC4,missense_variant,p.Pro2519Ser,ENST00000462323,;MUC4,missense_variant,p.Pro2519Ser,ENST00000470451,;MUC4,missense_variant,p.Pro2519Ser,ENST00000479406,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 8015/17110 7555/16239 2519/5412 P/S Ccc/Tcc rs747010184,COSM2945417 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.84) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGA . . 6.895e-05 0.000185 0.0001196 0.000533 4.383e-05 5.42e-05 195784025 REST . GRCh38 chr4 56931070 56931070 + Missense_Mutation SNP G G C rs568623889 7316-949 BS_D4YJXS6R G G c.2212G>C p.Glu738Gln p.E738Q ENST00000309042 4/4 72 63 8 35 35 0 REST,missense_variant,p.Glu738Gln,ENST00000309042,NM_005612.4;REST,missense_variant,p.Glu738Gln,ENST00000619101,NM_001193508.1;REST,intron_variant,,ENST00000622863,;REST,intron_variant,,ENST00000640168,;REST,intron_variant,,ENST00000640343,;REST,downstream_gene_variant,,ENST00000611211,;REST,downstream_gene_variant,,ENST00000616975,;REST,downstream_gene_variant,,ENST00000514063,; C ENSG00000084093 ENST00000309042 Transcript missense_variant 2526/7300 2212/3294 738/1097 E/Q Gag/Cag rs568623889 1 1 REST HGNC HGNC:9966 protein_coding YES CCDS3509.1 ENSP00000311816 Q13127 UPI000013FBF6 NM_005612.4 tolerated_low_confidence(0.08) benign(0.003) 4/4 hmmpanther:PTHR45014 0.0004 0.001 0.001 MODERATE 1 SNV 1 1 PASS GGA . . 56931070 MARCH6 . GRCh38 chr5 10353905 10353905 + Missense_Mutation SNP A A C novel 7316-949 BS_D4YJXS6R A A c.7A>C p.Thr3Pro p.T3P ENST00000274140 1/26 83 74 8 41 38 0 MARCH6,missense_variant,p.Thr3Pro,ENST00000274140,NM_005885.3;MARCH6,missense_variant,p.Thr3Pro,ENST00000449913,NM_001270660.1;MARCH6,missense_variant,p.Thr3Pro,ENST00000503788,NM_001270661.1;MARCH6,missense_variant,p.Thr3Pro,ENST00000640713,;AC012640.2,upstream_gene_variant,,ENST00000561606,;MARCH6,upstream_gene_variant,,ENST00000507863,;MARCH6,upstream_gene_variant,,ENST00000510872,;MARCH6,missense_variant,p.Thr3Pro,ENST00000502795,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;,regulatory_region_variant,,ENSR00000178052,;,TF_binding_site_variant,,MA0095.2,; C ENSG00000145495 ENST00000274140 Transcript missense_variant 139/9569 7/2733 3/910 T/P Acc/Ccc 1 1 MARCH6 HGNC HGNC:30550 protein_coding YES CCDS34135.1 ENSP00000274140 O60337 UPI00001B94D6 NM_005885.3 tolerated(0.27) benign(0.006) 1/26 Gene3D:3.30.40.10,PROSITE_profiles:PS51292,hmmpanther:PTHR13145,Superfamily_domains:SSF57850 MODERATE 1 SNV 1 PASS CAC . . 10353905 PROB1 . GRCh38 chr5 139392479 139392479 + Missense_Mutation SNP T T G novel 7316-949 BS_D4YJXS6R T T c.2603A>C p.Gln868Pro p.Q868P ENST00000434752 1/1 71 53 12 39 38 0 PROB1,missense_variant,p.Gln868Pro,ENST00000434752,NM_001161546.1;SPATA24,downstream_gene_variant,,ENST00000302091,;MZB1,upstream_gene_variant,,ENST00000302125,NM_016459.3;SPATA24,downstream_gene_variant,,ENST00000450845,NM_194296.1;SPATA24,downstream_gene_variant,,ENST00000512761,;SPATA24,downstream_gene_variant,,ENST00000514983,;MZB1,upstream_gene_variant,,ENST00000417694,;MZB1,upstream_gene_variant,,ENST00000503120,;MZB1,upstream_gene_variant,,ENST00000503351,;MZB1,upstream_gene_variant,,ENST00000503481,;MZB1,upstream_gene_variant,,ENST00000509591,;MZB1,upstream_gene_variant,,ENST00000511979,;MZB1,upstream_gene_variant,,ENST00000513389,;,regulatory_region_variant,,ENSR00000317495,; G ENSG00000228672 ENST00000434752 Transcript missense_variant 3235/5122 2603/3048 868/1015 Q/P cAg/cCg 1 -1 PROB1 HGNC HGNC:41906 protein_coding YES CCDS54909.1 ENSP00000416033 E7EW31 UPI00001974A9 NM_001161546.1 deleterious_low_confidence(0.04) possibly_damaging(0.566) 1/1 hmmpanther:PTHR33775,hmmpanther:PTHR33775:SF1,mobidb-lite MODERATE SNV PASS CTG . . 139392479 GLYAT . GRCh38 chr11 58715366 58715366 + Missense_Mutation SNP C C A 7316-949 BS_D4YJXS6R C C c.139G>T p.Val47Leu p.V47L ENST00000611865 2/5 84 73 8 46 46 0 GLYAT,missense_variant,p.Val47Leu,ENST00000611865,;GLYAT,missense_variant,p.Val47Leu,ENST00000344743,NM_201648.2;GLYAT,missense_variant,p.Val47Leu,ENST00000278400,NM_005838.3;GLYAT,missense_variant,p.Val47Leu,ENST00000529732,;GLYAT,upstream_gene_variant,,ENST00000586098,; A ENSG00000149124 ENST00000611865 Transcript missense_variant 139/1899 139/891 47/296 V/L Gtg/Ttg COSM6204742 1 -1 GLYAT HGNC HGNC:13734 protein_coding YES CCDS7970.1 ENSP00000484592 Q6IB77 UPI00003667C7 deleterious(0) probably_damaging(1) 2/5 hmmpanther:PTHR15298:SF9,hmmpanther:PTHR15298,Gene3D:3.40.630.30,Pfam_domain:PF06021,Superfamily_domains:SSF55729 1 MODERATE 1 SNV 3 1 PASS ACC . . 58715366 VWF . GRCh38 chr12 6022022 6022022 + Missense_Mutation SNP A A C novel 7316-949 BS_D4YJXS6R A A c.3552T>G p.Asp1184Glu p.D1184E ENST00000261405 27/52 59 53 5 28 27 0 VWF,missense_variant,p.Asp1184Glu,ENST00000261405,NM_000552.4;VWF,intron_variant,,ENST00000538635,;VWF,upstream_gene_variant,,ENST00000539641,; C ENSG00000110799 ENST00000261405 Transcript missense_variant 3807/8838 3552/8442 1184/2813 D/E gaT/gaG 1 -1 VWF HGNC HGNC:12726 protein_coding YES CCDS8539.1 ENSP00000261405 P04275 UPI00001AE7EE NM_000552.4 deleterious(0) probably_damaging(0.998) 27/52 Gene3D:2.10.25.10,Pfam_domain:PF01826,PIRSF_domain:PIRSF002495,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF361,Superfamily_domains:SSF57567 MODERATE 1 SNV 1 1 PASS CAT . . 6022022 PRB4 . GRCh38 chr12 11308844 11308844 + Missense_Mutation SNP G G A rs79595466 7316-949 BS_D4YJXS6R G G c.139C>T p.Pro47Ser p.P47S ENST00000279575 3/4 63 49 6 35 31 0 PRB4,missense_variant,p.Pro47Ser,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Pro47Ser,ENST00000535904,;PRB4,missense_variant,p.Pro47Ser,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Pro47Ser,ENST00000445719,; A ENSG00000230657 ENST00000279575 Transcript missense_variant 176/916 139/744 47/247 P/S Ccc/Tcc rs79595466 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(1) benign(0) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GGC . . 8.379e-06 1.833e-05 11308844 ADPRHL1 . GRCh38 chr13 113404036 113404036 + Missense_Mutation SNP T T C rs948102107 7316-949 BS_D4YJXS6R T T c.5246A>G p.Gln1749Arg p.Q1749R ENST00000612156 8/8 87 72 6 38 37 0 ADPRHL1,missense_variant,p.Gln1749Arg,ENST00000612156,; C ENSG00000153531 ENST00000612156 Transcript missense_variant 5333/9759 5246/5904 1749/1967 Q/R cAg/cGg rs948102107 1 -1 ADPRHL1 HGNC HGNC:21303 protein_coding ENSP00000489048 A0A0U1RQK4 UPI000719A14C tolerated_low_confidence(1) unknown(0) 8/8 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS CTG . . 113404036 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-949 BS_D4YJXS6R A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 89 57 14 43 41 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 NOTUM . GRCh38 chr17 81960908 81960908 + Translation_Start_Site SNP A A C novel 7316-949 BS_D4YJXS6R A A c.2T>G p.Met1? p.M1? ENST00000409678 1/11 58 48 5 29 28 0 NOTUM,start_lost,p.Met1?,ENST00000409678,NM_178493.5;NOTUM,start_lost,p.Met1?,ENST00000425009,;NOTUM,upstream_gene_variant,,ENST00000477214,;AC145207.7,downstream_gene_variant,,ENST00000580125,;NOTUM,upstream_gene_variant,,ENST00000489218,;,regulatory_region_variant,,ENSR00000099510,; C ENSG00000185269 ENST00000409678 Transcript start_lost 386/2329 2/1491 1/496 M/R aTg/aGg 1 -1 NOTUM HGNC HGNC:27106 protein_coding YES CCDS32771.2 ENSP00000387310 Q6P988 UPI000004EE80 NM_178493.5 deleterious_low_confidence(0) benign(0) 1/11 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS CAT . . 81960908 AC091151.1 . GRCh38 chr18 45549990 45549990 + Splice_Region SNP A A T rs1160507539 7316-949 BS_D4YJXS6R A A n.537-4A>T ENST00000587369 80 70 6 31 29 0 SLC14A2,intron_variant,,ENST00000586448,NM_001242692.1;AC091151.1,splice_region_variant,,ENST00000587369,; T ENSG00000267354 ENST00000587369 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1160507539 1 1 AC091151.1 Clone_based_ensembl_gene sense_intronic YES 3/3 LOW 1 SNV 1 PASS TAA . . 45549990 SMARCA4 . GRCh38 chr19 10961182 10961182 + Splice_Region SNP A A C novel 7316-949 BS_D4YJXS6R A A c.-32+8A>C ENST00000344626 65 53 10 16 16 0 SMARCA4,splice_region_variant,,ENST00000344626,NM_003072.3;SMARCA4,splice_region_variant,,ENST00000429416,NM_001128844.1;SMARCA4,splice_region_variant,,ENST00000444061,;SMARCA4,splice_region_variant,,ENST00000541122,;SMARCA4,splice_region_variant,,ENST00000589677,NM_001128846.1;SMARCA4,splice_region_variant,,ENST00000642628,;SMARCA4,splice_region_variant,,ENST00000642726,;SMARCA4,splice_region_variant,,ENST00000643296,NM_001128845.1;SMARCA4,splice_region_variant,,ENST00000643549,;SMARCA4,splice_region_variant,,ENST00000644737,;SMARCA4,splice_region_variant,,ENST00000644760,;SMARCA4,splice_region_variant,,ENST00000645460,NM_001128848.1;SMARCA4,splice_region_variant,,ENST00000646484,NM_001128847.1;SMARCA4,splice_region_variant,,ENST00000646510,;SMARCA4,splice_region_variant,,ENST00000646693,NM_001128849.1;SMARCA4,splice_region_variant,,ENST00000647230,;SMARCA4,upstream_gene_variant,,ENST00000590574,;,regulatory_region_variant,,ENSR00000107118,; C ENSG00000127616 ENST00000344626 Transcript splice_region_variant,intron_variant 1 1 SMARCA4 HGNC HGNC:11100 protein_coding YES CCDS12253.1 ENSP00000343896 P51532 A7E2E1 UPI000006F973 NM_003072.3 1/34 LOW 1 SNV 1 1 PASS AAC . . 10961182 ZNF761 . GRCh38 chr19 53455883 53455883 + Missense_Mutation SNP G G T rs779549000 7316-949 BS_D4YJXS6R G G c.1376G>T p.Arg459Leu p.R459L ENST00000432094 5/5 79 72 7 38 36 0 ZNF761,missense_variant,p.Arg459Leu,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.Arg459Leu,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; T ENSG00000160336 ENST00000432094 Transcript missense_variant 1683/4061 1376/2241 459/746 R/L cGt/cTt rs779549000,COSM1293825 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 tolerated(0.42) benign(0.005) 5/5 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,hmmpanther:PTHR24377:SF330,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 8.148e-06 1.795e-05 53455883 LILRA2 . GRCh38 chr19 54574902 54574902 + Missense_Mutation SNP G G C rs749102289 7316-949 BS_D4YJXS6R G G c.524G>C p.Trp175Ser p.W175S ENST00000251377 5/9 87 70 16 36 34 1 LILRA2,missense_variant,p.Trp175Ser,ENST00000251376,NM_001290271.1,NM_006866.3;LILRA2,missense_variant,p.Trp175Ser,ENST00000251377,;LILRA2,missense_variant,p.Trp175Ser,ENST00000391738,NM_001130917.2;LILRA2,missense_variant,p.Trp175Ser,ENST00000439534,;LILRA2,missense_variant,p.Trp163Ser,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000111531,; C ENSG00000239998 ENST00000251377 Transcript missense_variant 657/1799 524/1452 175/483 W/S tGg/tCg rs749102289 1 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000251377 Q8N149 UPI00034F238E tolerated(0.28) benign(0.007) 5/9 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 5 PASS TGG . . 4.061e-06 8.951e-06 54574902 RUNX1 . GRCh38 chr21 34792308 34792308 + Missense_Mutation SNP A A C novel 7316-949 BS_D4YJXS6R A A c.1270T>G p.Ser424Ala p.S424A ENST00000300305 8/8 58 36 8 28 28 0 RUNX1,missense_variant,p.Ser397Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Ser424Ala,ENST00000300305,;RUNX1,missense_variant,p.Ser424Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser333Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1715/6222 1270/1443 424/480 S/A Tcg/Gcg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) possibly_damaging(0.453) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS GAG . . 34792308 KRTAP10-6 . GRCh38 chr21 44591836 44591836 + Missense_Mutation SNP T T A 7316-949 BS_D4YJXS6R T T c.649A>T p.Thr217Ser p.T217S ENST00000400368 1/1 76 57 11 28 27 1 KRTAP10-6,missense_variant,p.Thr217Ser,ENST00000400368,NM_198688.3;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000622352,;TSPEAR,intron_variant,,ENST00000642437,; A ENSG00000188155 ENST00000400368 Transcript missense_variant 670/1238 649/1098 217/365 T/S Act/Tct COSM5950314 1 -1 KRTAP10-6 HGNC HGNC:20523 protein_coding YES CCDS42959.1 ENSP00000383219 P60371 UPI000021C43D NM_198688.3 tolerated(0.92) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF142,Pfam_domain:PF13885 1 MODERATE SNV 1 PASS GTT . . 44591836 TRIOBP . GRCh38 chr22 37724946 37724946 + Missense_Mutation SNP A A T novel 7316-949 BS_D4YJXS6R A A c.2390A>T p.Gln797Leu p.Q797L ENST00000406386 7/24 74 59 9 46 46 0 TRIOBP,missense_variant,p.Gln797Leu,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Gln797Leu,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; T ENSG00000100106 ENST00000406386 Transcript missense_variant 2661/10145 2390/7098 797/2365 Q/L cAg/cTg 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 deleterious_low_confidence(0) benign(0.073) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite MODERATE 1 SNV 5 1 PASS CAG . . 37724946 TUBGCP6 . GRCh38 chr22 50220963 50220963 + Missense_Mutation SNP A A T 7316-949 BS_D4YJXS6R A A c.3396T>A p.Asn1132Lys p.N1132K ENST00000248846 16/25 84 56 10 30 28 0 TUBGCP6,missense_variant,p.Asn1132Lys,ENST00000439308,;TUBGCP6,missense_variant,p.Asn1132Lys,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; T ENSG00000128159 ENST00000248846 Transcript missense_variant 3501/5612 3396/5460 1132/1819 N/K aaT/aaA COSM6243213 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 deleterious(0.05) possibly_damaging(0.666) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 1 MODERATE 1 SNV 1 1 1 PASS TAT . . 50220963 GTPBP6 . GRCh38 chrX 318651 318651 + Missense_Mutation SNP T T G novel 7316-949 BS_D4YJXS6R T T c.137A>C p.Asn46Thr p.N46T ENST00000326153 1/10 82 67 13 43 43 0 GTPBP6,missense_variant,p.Asn46Thr,ENST00000326153,NM_012227.3;LINC00685,upstream_gene_variant,,ENST00000391707,;,regulatory_region_variant,,ENSR00000243689,; G ENSG00000178605 ENST00000326153 Transcript missense_variant 169/1907 137/1551 46/516 N/T aAt/aCt 1 -1 GTPBP6 HGNC HGNC:30189 protein_coding YES CCDS75943.1 ENSP00000316598 O43824 UPI00043B9035 NM_012227.3 tolerated(0.6) unknown(0) 1/10 mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 318651 EPHB2 . GRCh38 chr1 22711038 22711038 + Missense_Mutation SNP T T G novel 7316-2933 BS_0P3S5YJQ T T c.56T>G p.Val19Gly p.V19G ENST00000400191 1/17 56 45 7 20 19 0 EPHB2,missense_variant,p.Val19Gly,ENST00000400191,NM_001309193.1;EPHB2,missense_variant,p.Val19Gly,ENST00000374632,NM_004442.7,NM_001309192.1;EPHB2,missense_variant,p.Val19Gly,ENST00000374630,NM_017449.4;EPHB2,missense_variant,p.Val19Gly,ENST00000544305,;,regulatory_region_variant,,ENSR00000002928,; G ENSG00000133216 ENST00000400191 Transcript missense_variant 74/10816 56/3168 19/1055 V/G gTg/gGg 1 1 EPHB2 HGNC HGNC:3393 protein_coding YES CCDS81279.1 ENSP00000383053 P29323 UPI0000033EC3 NM_001309193.1 tolerated(0.41) possibly_damaging(0.451) 1/17 cd10477,PIRSF_domain:PIRSF000666,Gene3D:2.60.120.260,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123 MODERATE 1 SNV 1 1 PASS GTG . . 22711038 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-2933 BS_0P3S5YJQ T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 58 36 16 23 20 0 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 TCHH . GRCh38 chr1 152108164 152108164 + Missense_Mutation SNP G G T novel 7316-2933 BS_0P3S5YJQ G G c.5053C>A p.Arg1685Ser p.R1685S ENST00000614923 3/3 54 44 6 36 34 0 TCHH,missense_variant,p.Arg1685Ser,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg1685Ser,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 5148/6995 5053/5832 1685/1943 R/S Cgc/Agc 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.08) probably_damaging(0.931) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS CGC . . 152108164 FLG2 . GRCh38 chr1 152351706 152351706 + Missense_Mutation SNP G G C rs201561111 7316-2933 BS_0P3S5YJQ G G c.6080C>G p.Ala2027Gly p.A2027G ENST00000388718 3/3 74 56 16 36 32 1 FLG2,missense_variant,p.Ala2027Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 6153/9124 6080/7176 2027/2391 A/G gCa/gGa rs201561111,COSM5950694 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0.0016 0.0045 0.002 0,1 MODERATE SNV 5 0,1 1 PASS TGC . . 2.477e-05 0.0001852 4.157e-05 2.069e-05 152351706 FLG2 . GRCh38 chr1 152356111 152356111 + Missense_Mutation SNP A A T 7316-2933 BS_0P3S5YJQ A A c.1675T>A p.Tyr559Asn p.Y559N ENST00000388718 3/3 67 52 7 38 35 0 FLG2,missense_variant,p.Tyr559Asn,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 1748/9124 1675/7176 559/2391 Y/N Tat/Aat COSM1334186 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.11) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS TAT . . 152356111 C1orf68 . GRCh38 chr1 152720124 152720124 + Missense_Mutation SNP T T G novel 7316-2933 BS_0P3S5YJQ T T c.603T>G p.Cys201Trp p.C201W ENST00000368775 1/1 55 47 7 41 41 0 C1orf68,missense_variant,p.Cys201Trp,ENST00000368775,NM_001024679.2; G ENSG00000198854 ENST00000368775 Transcript missense_variant 603/949 603/753 201/250 C/W tgT/tgG 1 1 C1orf68 HGNC HGNC:29468 protein_coding YES CCDS44226.1 ENSP00000357764 Q5T750 UPI00001C1D9F NM_001024679.2 deleterious_low_confidence(0) probably_damaging(0.996) 1/1 hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF4,Low_complexity_(Seg):seg MODERATE 1 SNV PASS GTG . . 152720124 NOS1AP . GRCh38 chr1 162365444 162365444 + Missense_Mutation SNP C C T rs752082506 7316-2933 BS_0P3S5YJQ C C c.980C>T p.Ala327Val p.A327V ENST00000361897 9/10 62 39 23 35 34 0 NOS1AP,missense_variant,p.Ala32Val,ENST00000493151,NM_001126060.1;NOS1AP,missense_variant,p.Ala327Val,ENST00000361897,NM_014697.2;NOS1AP,missense_variant,p.Ala322Val,ENST00000530878,NM_001164757.1;NOS1AP,5_prime_UTR_variant,,ENST00000464284,;AL512785.2,5_prime_UTR_variant,,ENST00000431696,;C1orf226,upstream_gene_variant,,ENST00000420220,;NOS1AP,upstream_gene_variant,,ENST00000454693,;NOS1AP,3_prime_UTR_variant,,ENST00000430120,;AL512785.2,upstream_gene_variant,,ENST00000367932,; T ENSG00000198929 ENST00000361897 Transcript missense_variant 1382/4931 980/1521 327/506 A/V gCg/gTg rs752082506,COSM676603,COSM676602,COSM676601,COSM2087682,COSM2087681,COSM2087680 1 1 NOS1AP HGNC HGNC:16859 protein_coding YES CCDS1237.1 ENSP00000355133 O75052 UPI000019C573 NM_014697.2 deleterious(0) possibly_damaging(0.9) 9/10 hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF39,Low_complexity_(Seg):seg 0,1,1,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1,1,1 1 PASS GCG . . 8.139e-06 6.498e-05 162365444 KCNT2 . GRCh38 chr1 196428112 196428112 + Missense_Mutation SNP C C A novel 7316-2933 BS_0P3S5YJQ C C c.977G>T p.Arg326Met p.R326M ENST00000294725 10/28 65 53 12 33 32 0 KCNT2,missense_variant,p.Arg326Met,ENST00000367433,NM_001287819.1;KCNT2,missense_variant,p.Arg326Met,ENST00000294725,NM_198503.3;KCNT2,missense_variant,p.Arg326Met,ENST00000609185,NM_001287820.1;KCNT2,intron_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;KCNT2,missense_variant,p.Arg33Met,ENST00000466914,; A ENSG00000162687 ENST00000294725 Transcript missense_variant 1893/4409 977/3408 326/1135 R/M aGg/aTg 1 -1 KCNT2 HGNC HGNC:18866 protein_coding YES CCDS1384.1 ENSP00000294725 Q6UVM3 A9LNM6 UPI00001E0966 NM_198503.3 deleterious(0.03) possibly_damaging(0.908) 10/28 Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9 MODERATE 1 SNV 1 1 PASS CCT . . 196428112 ESRRG . GRCh38 chr1 216677231 216677231 + Missense_Mutation SNP C C T novel 7316-2933 BS_0P3S5YJQ C C c.332G>A p.Ser111Asn p.S111N ENST00000366937 3/8 64 58 6 35 35 0 ESRRG,missense_variant,p.Ser83Asn,ENST00000391890,NM_001243515.1,NM_001243519.1;ESRRG,missense_variant,p.Ser83Asn,ENST00000360012,NM_001243514.1;ESRRG,missense_variant,p.Ser111Asn,ENST00000366937,NM_001243518.1;ESRRG,missense_variant,p.Ser83Asn,ENST00000361525,NM_206594.2,NM_001350124.1,NM_001350123.1;ESRRG,missense_variant,p.Ser83Asn,ENST00000366940,NM_001243511.2,NM_001134285.2,NM_001350125.1;ESRRG,missense_variant,p.Ser83Asn,ENST00000493603,NM_001243510.2;ESRRG,missense_variant,p.Ser83Asn,ENST00000366938,NM_001243513.1;ESRRG,missense_variant,p.Ser83Asn,ENST00000361395,NM_001243505.1;ESRRG,missense_variant,p.Ser106Asn,ENST00000408911,NM_001438.3;ESRRG,missense_variant,p.Ser83Asn,ENST00000359162,NM_206595.2,NM_001243506.1;ESRRG,missense_variant,p.Ser83Asn,ENST00000616180,;ESRRG,missense_variant,p.Ser83Asn,ENST00000463665,NM_001243507.1;ESRRG,missense_variant,p.Ser83Asn,ENST00000487276,NM_001243512.1;ESRRG,missense_variant,p.Ser83Asn,ENST00000493748,NM_001243509.1;ESRRG,missense_variant,p.Ser83Asn,ENST00000475275,;ESRRG,missense_variant,p.Ser83Asn,ENST00000469486,;ESRRG,downstream_gene_variant,,ENST00000459955,;ESRRG,downstream_gene_variant,,ENST00000481543,;ESRRG,intron_variant,,ENST00000586199,; T ENSG00000196482 ENST00000366937 Transcript missense_variant 599/5365 332/1413 111/470 S/N aGc/aAc 1 -1 ESRRG HGNC HGNC:3474 protein_coding YES CCDS58061.1 ENSP00000355904 P62508 UPI0000D4BFAB NM_001243518.1 deleterious(0.03) probably_damaging(0.943) 3/8 PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF21 MODERATE 1 SNV 1 PASS GCT . . 216677231 AC011995.2 . GRCh38 chr2 2838146 2838146 + Splice_Region SNP T T C rs202155312 7316-2933 BS_0P3S5YJQ T T n.243+3A>G ENST00000452701 62 55 5 32 30 0 AC011995.2,splice_region_variant,,ENST00000452701,; C ENSG00000237720 ENST00000452701 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs202155312 1 -1 AC011995.2 Clone_based_ensembl_gene lincRNA YES 1/2 LOW 1 SNV 4 PASS TTA . . 2838146 ODC1 . GRCh38 chr2 10440844 10440844 + Missense_Mutation SNP G G T novel 7316-2933 BS_0P3S5YJQ G G c.1266C>A p.Asn422Lys p.N422K ENST00000234111 12/12 54 36 18 43 42 0 ODC1,missense_variant,p.Asn422Lys,ENST00000234111,NM_002539.2,NM_001287188.1;ODC1,missense_variant,p.Asn422Lys,ENST00000405333,NM_001287190.1,NM_001287189.1;ODC1,downstream_gene_variant,,ENST00000443218,;ODC1,downstream_gene_variant,,ENST00000446285,; T ENSG00000115758 ENST00000234111 Transcript missense_variant 1777/2653 1266/1386 422/461 N/K aaC/aaA 1 -1 ODC1 HGNC HGNC:8109 protein_coding YES CCDS1672.1 ENSP00000234111 P11926 UPI0000001283 NM_002539.2,NM_001287188.1 tolerated(0.91) benign(0.001) 12/12 PDB-ENSP_mappings:1d7k.A,PDB-ENSP_mappings:1d7k.B,PDB-ENSP_mappings:2on3.A,PDB-ENSP_mappings:2on3.B,PDB-ENSP_mappings:2oo0.A,PDB-ENSP_mappings:2oo0.B,PDB-ENSP_mappings:5bwa.A,hmmpanther:PTHR11482,hmmpanther:PTHR11482:SF42,Superfamily_domains:SSF50621 MODERATE 1 SNV 1 PASS GGT . . 10440844 PKDCC . GRCh38 chr2 42048390 42048390 + Missense_Mutation SNP A A C novel 7316-2933 BS_0P3S5YJQ A A c.191A>C p.Tyr64Ser p.Y64S ENST00000294964 1/7 32 24 5 23 22 0 PKDCC,missense_variant,p.Tyr64Ser,ENST00000294964,NM_138370.2;PKDCC,missense_variant,p.Tyr64Ser,ENST00000401498,;PKDCC,upstream_gene_variant,,ENST00000485578,;PKDCC,upstream_gene_variant,,ENST00000492861,;,regulatory_region_variant,,ENSR00000115936,; C ENSG00000162878 ENST00000294964 Transcript missense_variant 371/2502 191/1482 64/493 Y/S tAc/tCc 1 1 PKDCC HGNC HGNC:25123 protein_coding YES CCDS33186.2 ENSP00000294964 Q504Y2 UPI0000EE25C6 NM_138370.2 tolerated_low_confidence(0.08) benign(0.066) 1/7 mobidb-lite,hmmpanther:PTHR26392:SF77,hmmpanther:PTHR26392 MODERATE 1 SNV 1 PASS TAC . . 42048390 THADA . GRCh38 chr2 43566824 43566825 + Splice_Region INS - - A novel 7316-2933 BS_0P3S5YJQ - - c.2188-4dup ENST00000405006 64 44 11 28 19 0 THADA,splice_region_variant,,ENST00000402360,NM_001271643.1;THADA,splice_region_variant,,ENST00000403856,;THADA,splice_region_variant,,ENST00000404790,NM_001271644.1;THADA,splice_region_variant,,ENST00000405006,NM_001083953.1;THADA,splice_region_variant,,ENST00000405975,NM_022065.4,NM_001345923.1,NM_001345925.1;THADA,splice_region_variant,,ENST00000407351,;THADA,splice_region_variant,,ENST00000398653,;THADA,splice_region_variant,,ENST00000402796,;THADA,splice_region_variant,,ENST00000408045,;THADA,splice_region_variant,,ENST00000474159,; A ENSG00000115970 ENST00000405006 Transcript splice_region_variant,intron_variant 1 -1 THADA HGNC HGNC:19217 protein_coding YES CCDS46268.1 ENSP00000385995 Q6YHU6 UPI00001C0473 NM_001083953.1 14/37 LOW 1 insertion 1 PASS TTA . . 43566824 ABCB11 . GRCh38 chr2 168986250 168986250 + Missense_Mutation SNP C C T novel 7316-2933 BS_0P3S5YJQ C C c.943G>A p.Gly315Arg p.G315R ENST00000263817 10/28 77 65 12 27 26 0 ABCB11,missense_variant,p.Gly315Arg,ENST00000263817,NM_003742.2; T ENSG00000073734 ENST00000263817 Transcript missense_variant 1068/4775 943/3966 315/1321 G/R Gga/Aga 1 -1 ABCB11 HGNC HGNC:42 protein_coding YES CCDS46444.1 ENSP00000263817 O95342 UPI0000163BFA NM_003742.2 deleterious(0) probably_damaging(1) 10/28 Gene3D:1.20.1560.10,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF165,Superfamily_domains:SSF90123 MODERATE 1 SNV 1 1 PASS CCC . . 168986250 MYO1B . GRCh38 chr2 191360634 191360634 + Missense_Mutation SNP T T A novel 7316-2933 BS_0P3S5YJQ T T c.566T>A p.Leu189His p.L189H ENST00000392318 8/31 58 44 13 43 43 0 MYO1B,missense_variant,p.Leu189His,ENST00000392318,NM_001130158.1;MYO1B,missense_variant,p.Leu189His,ENST00000339514,NM_012223.3;MYO1B,missense_variant,p.Leu189His,ENST00000304164,NM_001161819.1;MYO1B,missense_variant,p.Leu189His,ENST00000392316,NM_001330237.1,NM_001330238.1;MYO1B,missense_variant,p.Leu189His,ENST00000451437,; A ENSG00000128641 ENST00000392318 Transcript missense_variant 813/5082 566/3411 189/1136 L/H cTt/cAt 1 1 MYO1B HGNC HGNC:7596 protein_coding YES CCDS46477.1 ENSP00000376132 O43795 B0I1S9 UPI00001A9466 NM_001130158.1 deleterious(0) probably_damaging(0.999) 8/31 PROSITE_profiles:PS51456,cd01378,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277,Gene3D:3.40.50.300,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS CTT . . 191360634 DPPA2 . GRCh38 chr3 109294012 109294012 + Splice_Region SNP C C T novel 7316-2933 BS_0P3S5YJQ C C c.*23-8G>A ENST00000478945 65 56 8 44 43 0 DPPA2,splice_region_variant,,ENST00000478945,NM_138815.3;RF00017,upstream_gene_variant,,ENST00000614947,; T ENSG00000163530 ENST00000478945 Transcript splice_region_variant,intron_variant 1 -1 DPPA2 HGNC HGNC:19197 protein_coding YES CCDS2956.1 ENSP00000417710 Q7Z7J5 UPI000007143F NM_138815.3 8/8 LOW 1 SNV 1 PASS GCA . . 109294012 CASR . GRCh38 chr3 122261699 122261699 + Missense_Mutation SNP G G A novel 7316-2933 BS_0P3S5YJQ G G c.664G>A p.Gly222Arg p.G222R ENST00000498619 4/7 64 59 5 39 38 0 CASR,missense_variant,p.Gly222Arg,ENST00000639785,NM_000388.3;CASR,missense_variant,p.Gly222Arg,ENST00000638421,;CASR,missense_variant,p.Gly222Arg,ENST00000498619,NM_001178065.1;CASR,missense_variant,p.Gly222Arg,ENST00000490131,;CASR,downstream_gene_variant,,ENST00000638296,; A ENSG00000036828 ENST00000498619 Transcript missense_variant 1102/5009 664/3267 222/1088 G/R Ggg/Agg 1 1 CASR HGNC HGNC:1514 protein_coding YES CCDS54632.1 ENSP00000420194 P41180 E7ENE0 UPI000020A065 NM_001178065.1 deleterious(0) probably_damaging(1) 4/7 cd06364,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00248,Prints_domain:PR00592 MODERATE 1 SNV 1 1 PASS GGG . . 122261699 CCDC50 . GRCh38 chr3 191389526 191389526 + Missense_Mutation SNP A A T novel 7316-2933 BS_0P3S5YJQ A A c.1353A>T p.Glu451Asp p.E451D ENST00000392455 11/12 62 55 7 34 34 0 CCDC50,missense_variant,p.Glu451Asp,ENST00000392455,NM_178335.2;CCDC50,missense_variant,p.Glu275Asp,ENST00000392456,NM_174908.3; T ENSG00000152492 ENST00000392455 Transcript missense_variant 1951/8957 1353/1449 451/482 E/D gaA/gaT 1 1 CCDC50 HGNC HGNC:18111 protein_coding YES CCDS33912.1 ENSP00000376249 Q8IVM0 UPI000018F5EF NM_178335.2 tolerated(0.16) benign(0.018) 11/12 hmmpanther:PTHR22115,hmmpanther:PTHR22115:SF1,mobidb-lite MODERATE 1 SNV 1 1 PASS AAG . . 191389526 MAN2B2 . GRCh38 chr4 6575262 6575262 + Missense_Mutation SNP C C A novel 7316-2933 BS_0P3S5YJQ C C c.52C>A p.Pro18Thr p.P18T ENST00000285599 1/19 93 80 13 33 33 0 MAN2B2,missense_variant,p.Pro17Thr,ENST00000505907,;MAN2B2,missense_variant,p.Pro18Thr,ENST00000285599,NM_015274.2;MAN2B2,missense_variant,p.Pro18Thr,ENST00000504248,NM_001292038.1;,regulatory_region_variant,,ENSR00000165434,; A ENSG00000013288 ENST00000285599 Transcript missense_variant 88/5143 52/3030 18/1009 P/T Ccg/Acg 1 1 MAN2B2 HGNC HGNC:29623 protein_coding YES CCDS33951.1 ENSP00000285599 Q9Y2E5 UPI000004BF05 NM_015274.2 tolerated(0.25) benign(0.074) 1/19 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11607:SF28,hmmpanther:PTHR11607 MODERATE 1 SNV 1 PASS ACC . . 6575262 SULT1E1 . GRCh38 chr4 69857526 69857526 + Missense_Mutation SNP A A T novel 7316-2933 BS_0P3S5YJQ A A c.119T>A p.Leu40His p.L40H ENST00000226444 2/8 60 47 13 40 40 0 SULT1E1,missense_variant,p.Leu40His,ENST00000226444,NM_005420.2;SULT1E1,non_coding_transcript_exon_variant,,ENST00000504002,; T ENSG00000109193 ENST00000226444 Transcript missense_variant 232/1780 119/885 40/294 L/H cTt/cAt 1 -1 SULT1E1 HGNC HGNC:11377 protein_coding YES CCDS3531.1 ENSP00000226444 P49888 Q53X91 UPI00000623C8 NM_005420.2 deleterious(0) probably_damaging(0.94) 2/8 PDB-ENSP_mappings:1g3m.A,PDB-ENSP_mappings:1g3m.B,PDB-ENSP_mappings:1hy3.A,PDB-ENSP_mappings:1hy3.B,Gene3D:3.40.50.300,PDB-ENSP_mappings:4jvl.A,PDB-ENSP_mappings:4jvl.B,PDB-ENSP_mappings:4jvm.A,PDB-ENSP_mappings:4jvm.B,PDB-ENSP_mappings:4jvn.A,PDB-ENSP_mappings:4jvn.B,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF53,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS AAG . . 69857526 JADE1 . GRCh38 chr4 128809880 128809880 + Splice_Region SNP A A C novel 7316-2933 BS_0P3S5YJQ A A c.-27+3A>C ENST00000226319 50 44 6 19 19 0 JADE1,splice_region_variant,,ENST00000226319,NM_199320.3;JADE1,splice_region_variant,,ENST00000452328,NM_001287437.1;JADE1,splice_region_variant,,ENST00000504089,;JADE1,splice_region_variant,,ENST00000511647,NM_024900.4;JADE1,upstream_gene_variant,,ENST00000413543,NM_001287441.1;JADE1,upstream_gene_variant,,ENST00000503785,;JADE1,upstream_gene_variant,,ENST00000507833,;JADE1,upstream_gene_variant,,ENST00000510308,;JADE1,upstream_gene_variant,,ENST00000512960,NM_001287439.1,NM_001287440.1;JADE1,upstream_gene_variant,,ENST00000514740,;JADE1,upstream_gene_variant,,ENST00000610919,NM_001287442.1;JADE1,upstream_gene_variant,,ENST00000611140,NM_001287443.1;JADE1,upstream_gene_variant,,ENST00000511925,;,regulatory_region_variant,,ENSR00000173307,; C ENSG00000077684 ENST00000226319 Transcript splice_region_variant,intron_variant 1 1 JADE1 HGNC HGNC:30027 protein_coding YES CCDS34062.1 ENSP00000226319 Q6IE81 UPI000020B45B NM_199320.3 1/10 LOW 1 SNV 5 PASS TAC . . 128809880 PRDM9 . GRCh38 chr5 23527500 23527500 + Nonsense_Mutation SNP T T A 7316-2933 BS_0P3S5YJQ T T c.2412T>A p.Tyr804Ter p.Y804* ENST00000296682 11/11 41 24 6 22 21 0 PRDM9,stop_gained,p.Tyr804Ter,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,;,regulatory_region_variant,,ENSR00000314203,; A ENSG00000164256 ENST00000296682 Transcript stop_gained 2594/3691 2412/2685 804/894 Y/* taT/taA COSM591873 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 11/11 PDB-ENSP_mappings:5egb.A,PDB-ENSP_mappings:5eh2.E,PDB-ENSP_mappings:5eh2.F,PDB-ENSP_mappings:5ei9.E,PDB-ENSP_mappings:5ei9.F,PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 HIGH 1 SNV 1 1 PASS ATG . . 23527500 MDC1 . GRCh38 chr6 30704586 30704586 + Missense_Mutation SNP C C T rs372525319 7316-2933 BS_0P3S5YJQ C C c.4597G>A p.Ala1533Thr p.A1533T ENST00000376406 10/15 58 45 6 42 39 1 MDC1,missense_variant,p.Ala1533Thr,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 5245/7576 4597/6270 1533/2089 A/T Gca/Aca rs372525319,COSM5950854,COSM5950853 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 0,1,1 MODERATE SNV 5 0,1,1 PASS GCG . . 6.374e-05 8.032e-05 9.213e-05 4.123e-05 0.0002353 0.0001962 30704586 MUCL3 . GRCh38 chr6 30949582 30949582 + Missense_Mutation SNP C C A novel 7316-2933 BS_0P3S5YJQ C C c.1118C>A p.Thr373Asn p.T373N ENST00000462446 2/3 36 25 7 27 27 0 MUCL3,missense_variant,p.Thr440Asn,ENST00000636043,;MUCL3,missense_variant,p.Thr373Asn,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 1146/5314 1118/4182 373/1393 T/N aCc/aAc 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.14) benign(0.005) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS ACC . . 30949582 BRD2 . GRCh38 chr6 32979985 32979998 + Frame_Shift_Del DEL CATATAATCCAAGC CATATAATCCAAGC - novel 7316-2933 BS_0P3S5YJQ CATATAATCCAAGC CATATAATCCAAGC c.2106_2119del p.His702GlnfsTer7 p.H702Qfs*7 ENST00000395287 11/13 43 36 7 40 40 0 BRD2,frameshift_variant,p.His667GlnfsTer7,ENST00000374825,NM_005104.3;BRD2,frameshift_variant,p.His667GlnfsTer7,ENST00000374831,NM_001113182.2;BRD2,frameshift_variant,p.His702GlnfsTer7,ENST00000395287,NM_001199455.1;BRD2,frameshift_variant,p.His673GlnfsTer7,ENST00000449025,;BRD2,frameshift_variant,p.His620GlnfsTer7,ENST00000449085,NM_001199456.1,NM_001291986.1;BRD2,downstream_gene_variant,,ENST00000456339,;BRD2,downstream_gene_variant,,ENST00000606059,;BRD2,downstream_gene_variant,,ENST00000607833,;BRD2,3_prime_UTR_variant,,ENST00000482914,;BRD2,non_coding_transcript_exon_variant,,ENST00000469132,;BRD2,non_coding_transcript_exon_variant,,ENST00000482838,;BRD2,downstream_gene_variant,,ENST00000463639,;BRD2,downstream_gene_variant,,ENST00000464592,;BRD2,downstream_gene_variant,,ENST00000481259,;BRD2,downstream_gene_variant,,ENST00000495733,; - ENSG00000204256 ENST00000395287 Transcript frameshift_variant 2273-2286/3467 2104-2117/2511 702-706/836 HIIQA/X CATATAATCCAAGCc/c 1 1 BRD2 HGNC HGNC:1103 protein_coding YES CCDS56420.1 ENSP00000378702 P25440 UPI0000227E6A NM_001199455.1 11/13 Pfam_domain:PF17035,PROSITE_profiles:PS51525,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF143 HIGH 1 deletion 1 2 PASS TGCATATAATCCAAGCC . . 32979984 ITPR3 . GRCh38 chr6 33670792 33670792 + Nonsense_Mutation SNP G G T novel 7316-2933 BS_0P3S5YJQ G G c.2563G>T p.Glu855Ter p.E855* ENST00000374316 21/59 52 42 10 35 33 0 ITPR3,stop_gained,p.Glu855Ter,ENST00000374316,;ITPR3,stop_gained,p.Glu855Ter,ENST00000605930,NM_002224.3; T ENSG00000096433 ENST00000374316 Transcript stop_gained 3623/9870 2563/8016 855/2671 E/* Gag/Tag 1 1 ITPR3 HGNC HGNC:6182 protein_coding YES CCDS4783.1 ENSP00000363435 Q14573 UPI000013CB74 21/59 hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715 HIGH 1 SNV 5 1 PASS GGA . . 33670792 NACAD . GRCh38 chr7 45083466 45083466 + Missense_Mutation SNP G G A rs201818400 7316-2933 BS_0P3S5YJQ G G c.2714C>T p.Pro905Leu p.P905L ENST00000490531 2/8 67 50 11 25 25 0 NACAD,missense_variant,p.Pro905Leu,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,; A ENSG00000136274 ENST00000490531 Transcript missense_variant 2734/4780 2714/4689 905/1562 P/L cCt/cTt rs201818400,COSM3718680 1 -1 NACAD HGNC HGNC:22196 protein_coding YES CCDS47582.1 ENSP00000420477 O15069 UPI00001D747D NM_001146334.1 tolerated(0.21) benign(0) 2/8 hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF1,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS AGG . . 0.06077 0.2529 0.1036 0.02042 0.1541 0.004857 0.04472 0.07185 0.06779 45083466 MUC3A . GRCh38 chr7 100955552 100955552 + Missense_Mutation SNP C C A rs1419847066 7316-2933 BS_0P3S5YJQ C C c.3773C>A p.Thr1258Asn p.T1258N ENST00000379458 2/12 93 70 22 33 32 1 MUC3A,missense_variant,p.Thr1258Asn,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Thr1258Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 3843/11226 3773/9972 1258/3323 T/N aCc/aAc rs1419847066 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 tolerated_low_confidence(0.08) unknown(0) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22 MODERATE 1 SNV 5 PASS ACC . . 100955552 MUC17 . GRCh38 chr7 101039898 101039898 + Missense_Mutation SNP G G A rs769140119 7316-2933 BS_0P3S5YJQ G G c.8482G>A p.Gly2828Ser p.G2828S ENST00000306151 3/13 68 57 5 25 25 0 MUC17,missense_variant,p.Gly2828Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2828Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 8546/14247 8482/13482 2828/4493 G/S Ggc/Agc rs769140119,COSM3703090 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) probably_damaging(0.934) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS TGG . . 0.0002097 0.0001573 0.0002706 0.0001073 0.0003597 0.0001835 0.0006168 0.0003191 101039898 CHCHD3 . GRCh38 chr7 132796503 132796503 + Frame_Shift_Del DEL T T - novel 7316-2933 BS_0P3S5YJQ T T c.599del p.Gln200ArgfsTer57 p.Q200Rfs*57 ENST00000262570 7/8 51 42 6 32 32 0 CHCHD3,frameshift_variant,p.Gln200ArgfsTer57,ENST00000262570,NM_017812.3;CHCHD3,frameshift_variant,p.Gln205ArgfsTer57,ENST00000448878,NM_001317177.1;CHCHD3,non_coding_transcript_exon_variant,,ENST00000496427,;CHCHD3,3_prime_UTR_variant,,ENST00000423635,; - ENSG00000106554 ENST00000262570 Transcript frameshift_variant 744/1598 599/684 200/227 Q/X cAg/cg 1 -1 CHCHD3 HGNC HGNC:21906 protein_coding YES CCDS5828.1 ENSP00000262570 Q9NX63 A4D1N4 UPI0000044721 NM_017812.3 7/8 PROSITE_profiles:PS51808,hmmpanther:PTHR21588:SF2,hmmpanther:PTHR21588 HIGH 1 deletion 1 PASS TCTG . . 132796502 AGK . GRCh38 chr7 141641287 141641287 + Missense_Mutation SNP G G A novel 7316-2933 BS_0P3S5YJQ G G c.766G>A p.Gly256Arg p.G256R ENST00000355413 12/16 72 62 8 31 31 0 AGK,missense_variant,p.Gly256Arg,ENST00000355413,NM_018238.3;AGK,missense_variant,p.Gly228Arg,ENST00000473247,;AGK,intron_variant,,ENST00000629555,;AGK,intron_variant,,ENST00000494688,; A ENSG00000006530 ENST00000355413 Transcript missense_variant 1026/3849 766/1269 256/422 G/R Gga/Aga 1 1 AGK HGNC HGNC:21869 protein_coding YES CCDS5865.1 ENSP00000347581 Q53H12 A4D1U5 UPI000006E622 NM_018238.3 tolerated(0.11) possibly_damaging(0.584) 12/16 hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF51,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GGG . . 141641287 TRBV5-6 . GRCh38 chr7 142500370 142500370 + Missense_Mutation SNP A A C novel 7316-2933 BS_0P3S5YJQ A A c.179A>C p.Gln60Pro p.Q60P ENST00000390375 2/2 71 62 7 27 27 0 TRBV5-6,missense_variant,p.Gln60Pro,ENST00000390375,;,regulatory_region_variant,,ENSR00000219257,; C ENSG00000211728 ENST00000390375 Transcript missense_variant 220/384 179/343 60/114 Q/P cAg/cCg 1 1 TRBV5-6 HGNC HGNC:12223 TR_V_gene YES ENSP00000374898 A0A599 UPI00001140EA deleterious(0) probably_damaging(0.94) 2/2 MODERATE 1 SNV PASS CAG . . 142500370 MFHAS1 . GRCh38 chr8 8892736 8892736 + Missense_Mutation SNP T T G novel 7316-2933 BS_0P3S5YJQ T T c.323A>C p.Glu108Ala p.E108A ENST00000276282 1/3 92 61 14 29 27 1 MFHAS1,missense_variant,p.Glu108Ala,ENST00000276282,NM_004225.2;RNU6-682P,upstream_gene_variant,,ENST00000363843,;,regulatory_region_variant,,ENSR00000220826,; G ENSG00000147324 ENST00000276282 Transcript missense_variant 910/6414 323/3159 108/1052 E/A gAg/gCg 1 -1 MFHAS1 HGNC HGNC:16982 protein_coding YES CCDS34844.1 ENSP00000276282 Q9Y4C4 UPI000013DAB6 NM_004225.2 tolerated(0.12) benign(0.015) 1/3 Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR44393,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS CTC . . 8892736 MFHAS1 . GRCh38 chr8 8892742 8892742 + Missense_Mutation SNP A A C novel 7316-2933 BS_0P3S5YJQ A A c.317T>G p.Val106Gly p.V106G ENST00000276282 1/3 100 74 14 32 31 0 MFHAS1,missense_variant,p.Val106Gly,ENST00000276282,NM_004225.2;RNU6-682P,upstream_gene_variant,,ENST00000363843,;,regulatory_region_variant,,ENSR00000220826,; C ENSG00000147324 ENST00000276282 Transcript missense_variant 904/6414 317/3159 106/1052 V/G gTg/gGg 1 -1 MFHAS1 HGNC HGNC:16982 protein_coding YES CCDS34844.1 ENSP00000276282 Q9Y4C4 UPI000013DAB6 NM_004225.2 deleterious(0) possibly_damaging(0.802) 1/3 Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR44393,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS CAC . . 8892742 FAM86B1 . GRCh38 chr8 12186399 12186399 + Missense_Mutation SNP A A G rs201884366 7316-2933 BS_0P3S5YJQ A A c.593T>C p.Met198Thr p.M198T ENST00000448228 5/7 111 93 17 21 21 0 FAM86B1,missense_variant,p.Met198Thr,ENST00000448228,NM_001083537.1;FAM86B1,missense_variant,p.Met232Thr,ENST00000533852,;FAM86B1,3_prime_UTR_variant,,ENST00000524571,;FAM86B1,intron_variant,,ENST00000534520,;FAM86B1,downstream_gene_variant,,ENST00000533513,;FAM86B1,3_prime_UTR_variant,,ENST00000431227,;FAM86B1,3_prime_UTR_variant,,ENST00000526708,;FAM86B1,non_coding_transcript_exon_variant,,ENST00000529617,;FAM86B1,intron_variant,,ENST00000340537,;FAM86B1,intron_variant,,ENST00000524893,;FAM86B1,intron_variant,,ENST00000525822,;FAM86B1,intron_variant,,ENST00000527300,;FAM86B1,intron_variant,,ENST00000529060,;FAM86B1,intron_variant,,ENST00000529146,;FAM86B1,intron_variant,,ENST00000530385,;FAM86B1,intron_variant,,ENST00000531833,;FAM86B1,intron_variant,,ENST00000534187,;FAM86B1,intron_variant,,ENST00000534732,;FAM86B1,upstream_gene_variant,,ENST00000530508,;ALG1L11P,downstream_gene_variant,,ENST00000511660,; G ENSG00000186523 ENST00000448228 Transcript missense_variant 643/2096 593/891 198/296 M/T aTg/aCg rs201884366,COSM244410 1 -1 FAM86B1 HGNC HGNC:28268 protein_coding YES CCDS59512.1 ENSP00000407067 Q8N7N1 UPI0000F58EC4 NM_001083537.1 tolerated(1) benign(0) 5/7 hmmpanther:PTHR14614:SF25,hmmpanther:PTHR14614,Gene3D:3.40.50.150,Pfam_domain:PF10294,Superfamily_domains:SSF53335 0.0419 0.1399 0.0086 0.0089 0.001 0.0092 0,1 MODERATE 1 SNV 5 0,1 PASS CAT . . 0.001915 0.02389 0.002374 0.002213 0.0003142 0.0005257 0.001214 0.0008773 12186399 PKHD1L1 . GRCh38 chr8 109464576 109464576 + Missense_Mutation SNP T T A novel 7316-2933 BS_0P3S5YJQ T T c.7744T>A p.Phe2582Ile p.F2582I ENST00000378402 49/78 91 81 9 29 27 0 PKHD1L1,missense_variant,p.Phe2582Ile,ENST00000378402,NM_177531.4; A ENSG00000205038 ENST00000378402 Transcript missense_variant 7848/13076 7744/12732 2582/4243 F/I Ttt/Att 1 1 PKHD1L1 HGNC HGNC:20313 protein_coding YES CCDS47911.1 ENSP00000367655 Q86WI1 UPI0000E5B020 NM_177531.4 deleterious(0) probably_damaging(0.961) 49/78 hmmpanther:PTHR44854,Gene3D:2.160.20.10,SMART_domains:SM00710 MODERATE 1 SNV 1 PASS CTT . . 109464576 MROH5 . GRCh38 chr8 141479217 141479217 + Missense_Mutation SNP G G T novel 7316-2933 BS_0P3S5YJQ G G c.1085C>A p.Ser362Tyr p.S362Y ENST00000621837 9/31 101 95 6 45 45 0 MROH5,missense_variant,p.Ser362Tyr,ENST00000621837,NM_207414.2;MROH5,3_prime_UTR_variant,,ENST00000521053,;MROH5,3_prime_UTR_variant,,ENST00000523857,;MROH5,missense_variant,p.Ser362Tyr,ENST00000430863,; T ENSG00000226807 ENST00000621837 Transcript missense_variant 1166/4164 1085/3954 362/1317 S/Y tCc/tAc 1 -1 MROH5 HGNC HGNC:42976 protein_coding YES ENSP00000481783 A0A087WYG4 UPI0004E4CC08 NM_207414.2 tolerated(0.8) benign(0.039) 9/31 Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF6 MODERATE 1 SNV 5 PASS GGA . . 141479217 GLI4 . GRCh38 chr8 143276458 143276458 + Missense_Mutation SNP A A C rs1181189373 7316-2933 BS_0P3S5YJQ A A c.785A>C p.Asn262Thr p.N262T ENST00000340042 4/4 119 100 15 32 30 1 GLI4,missense_variant,p.Asn262Thr,ENST00000340042,NM_138465.3;GLI4,missense_variant,p.Asn262Thr,ENST00000523522,;GLI4,downstream_gene_variant,,ENST00000344692,;GLI4,downstream_gene_variant,,ENST00000517468,;GLI4,downstream_gene_variant,,ENST00000517530,;GLI4,downstream_gene_variant,,ENST00000520021,;GLI4,downstream_gene_variant,,ENST00000521682,;AC138696.1,downstream_gene_variant,,ENST00000522452,;MINCR,downstream_gene_variant,,ENST00000517411,;MINCR,downstream_gene_variant,,ENST00000518073,;MINCR,downstream_gene_variant,,ENST00000519852,;MINCR,downstream_gene_variant,,ENST00000521207,;MINCR,downstream_gene_variant,,ENST00000523031,;MINCR,downstream_gene_variant,,ENST00000524335,;GLI4,non_coding_transcript_exon_variant,,ENST00000523812,;GLI4,downstream_gene_variant,,ENST00000519876,;GLI4,downstream_gene_variant,,ENST00000522479,;GLI4,downstream_gene_variant,,ENST00000522033,; C ENSG00000250571 ENST00000340042 Transcript missense_variant 870/1341 785/1131 262/376 N/T aAc/aCc rs1181189373 1 1 GLI4 HGNC HGNC:4320 protein_coding YES CCDS6398.1 ENSP00000345024 P10075 UPI0000070432 NM_138465.3 tolerated(0.89) benign(0.223) 4/4 Gene3D:2.10.69.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAC . . 143276458 TIGD5 . GRCh38 chr8 143597992 143597992 + Missense_Mutation SNP T T G novel 7316-2933 BS_0P3S5YJQ T T c.89T>G p.Val30Gly p.V30G ENST00000504548 1/1 68 56 10 12 12 0 TIGD5,missense_variant,p.Val30Gly,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; G ENSG00000179886 ENST00000504548 Transcript missense_variant 158/5390 89/1929 30/642 V/G gTc/gGc 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 tolerated_low_confidence(0.39) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45428 MODERATE SNV PASS GTC . . 143597992 SHARPIN . GRCh38 chr8 144099162 144099162 + Missense_Mutation SNP T T G novel 7316-2933 BS_0P3S5YJQ T T c.966A>C p.Glu322Asp p.E322D ENST00000398712 7/9 90 77 7 28 28 0 SHARPIN,missense_variant,p.Glu322Asp,ENST00000398712,NM_030974.3;SHARPIN,missense_variant,p.Glu30Asp,ENST00000532536,;CYC1,downstream_gene_variant,,ENST00000318911,NM_001916.4;SHARPIN,downstream_gene_variant,,ENST00000533184,;SHARPIN,downstream_gene_variant,,ENST00000533948,;SHARPIN,downstream_gene_variant,,ENST00000534242,;SHARPIN,intron_variant,,ENST00000359551,;CYC1,downstream_gene_variant,,ENST00000525122,;SHARPIN,downstream_gene_variant,,ENST00000525275,;CYC1,downstream_gene_variant,,ENST00000528618,;SHARPIN,downstream_gene_variant,,ENST00000530216,;SHARPIN,downstream_gene_variant,,ENST00000531375,;CYC1,downstream_gene_variant,,ENST00000533444,;SHARPIN,downstream_gene_variant,,ENST00000534435,; G ENSG00000179526 ENST00000398712 Transcript missense_variant 1403/1765 966/1164 322/387 E/D gaA/gaC 1 -1 SHARPIN HGNC HGNC:25321 protein_coding YES CCDS43777.1 ENSP00000381698 Q9H0F6 UPI0000037CCA NM_030974.3 tolerated(0.14) benign(0.001) 7/9 hmmpanther:PTHR22770,hmmpanther:PTHR22770:SF36,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 144099162 CDHR5 . GRCh38 chr11 618860 618860 + Missense_Mutation SNP T T C rs756760345 7316-2933 BS_0P3S5YJQ T T c.1699A>G p.Ser567Gly p.S567G ENST00000358353 14/16 47 34 5 31 27 1 CDHR5,missense_variant,p.Ser567Gly,ENST00000358353,;CDHR5,missense_variant,p.Ser567Gly,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; C ENSG00000099834 ENST00000358353 Transcript missense_variant 2022/3635 1699/2538 567/845 S/G Agt/Ggt rs756760345,COSM4912302 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(0.45) benign(0) 14/16 mobidb-lite,hmmpanther:PTHR45160 0,1 MODERATE SNV 5 0,1 PASS CTG . . 6.615e-05 7.153e-05 0.0003302 0.0002721 3.602e-05 618860 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-2933 BS_0P3S5YJQ A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 39 25 10 33 33 0 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 OR5B17 . GRCh38 chr11 58358264 58358264 + Missense_Mutation SNP T T G novel 7316-2933 BS_0P3S5YJQ T T c.806A>C p.Asp269Ala p.D269A ENST00000357377 1/1 44 39 5 28 28 0 OR5B17,missense_variant,p.Asp269Ala,ENST00000357377,NM_001005489.1;AP000435.1,upstream_gene_variant,,ENST00000528539,; G ENSG00000197786 ENST00000357377 Transcript missense_variant 806/946 806/945 269/314 D/A gAc/gCc 1 -1 OR5B17 HGNC HGNC:15267 protein_coding YES CCDS31548.1 ENSP00000349945 Q8NGF7 A0A126GVL8 UPI0000041DFA NM_001005489.1 deleterious_low_confidence(0.02) possibly_damaging(0.654) 1/1 PROSITE_profiles:PS50262,cd15407,hmmpanther:PTHR26452:SF319,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS GTC . . 58358264 AHNAK . GRCh38 chr11 62528799 62528799 + Missense_Mutation SNP G G A rs145366859 7316-2933 BS_0P3S5YJQ G G c.5618C>T p.Ala1873Val p.A1873V ENST00000378024 5/5 57 44 7 34 34 0 AHNAK,missense_variant,p.Ala1873Val,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 5893/18787 5618/17673 1873/5890 A/V gCg/gTg rs145366859,COSM4339753,COSM2038670 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(1) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0.0002 0.0014 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CGC . . 0.0004033 8.593e-05 0.0001211 8.732e-05 0.0002409 0.000233 0.002096 62528799 AHNAK . GRCh38 chr11 62529076 62529076 + Missense_Mutation SNP C C T rs1370826695 7316-2933 BS_0P3S5YJQ C C c.5341G>A p.Val1781Ile p.V1781I ENST00000378024 5/5 45 39 5 38 38 0 AHNAK,missense_variant,p.Val1781Ile,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000528508,;AHNAK,downstream_gene_variant,,ENST00000530285,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 5616/18787 5341/17673 1781/5890 V/I Gtc/Atc rs1370826695 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(1) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 MODERATE 1 SNV 2 PASS ACC . . 4.062e-06 5.798e-05 62529076 MMP10 . GRCh38 chr11 102779651 102779651 + Missense_Mutation SNP T T A novel 7316-2933 BS_0P3S5YJQ T T c.200A>T p.Gln67Leu p.Q67L ENST00000279441 2/10 52 37 15 30 30 0 MMP10,missense_variant,p.Gln67Leu,ENST00000279441,NM_002425.2;MMP10,missense_variant,p.Gln67Leu,ENST00000539681,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,upstream_gene_variant,,ENST00000525739,;WTAPP1,upstream_gene_variant,,ENST00000544704,; A ENSG00000166670 ENST00000279441 Transcript missense_variant 237/1758 200/1431 67/476 Q/L cAg/cTg 1 -1 MMP10 HGNC HGNC:7156 protein_coding YES CCDS8321.1 ENSP00000279441 P09238 UPI00000422C0 NM_002425.2 deleterious(0.02) probably_damaging(0.998) 2/10 Gene3D:3.40.390.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF129,Superfamily_domains:SSF47090 MODERATE 1 SNV 1 PASS CTG . . 102779651 GLB1L3 . GRCh38 chr11 134311112 134311112 + Missense_Mutation SNP C C T novel 7316-2933 BS_0P3S5YJQ C C c.1229C>T p.Pro410Leu p.P410L ENST00000431683 13/20 69 57 12 33 32 0 GLB1L3,missense_variant,p.Pro410Leu,ENST00000431683,NM_001080407.2;GLB1L3,missense_variant,p.Pro95Leu,ENST00000455971,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000467068,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000486034,;GLB1L3,non_coding_transcript_exon_variant,,ENST00000410100,;GLB1L3,intron_variant,,ENST00000498012,; T ENSG00000166105 ENST00000431683 Transcript missense_variant 1229/2583 1229/1962 410/653 P/L cCc/cTc 1 1 GLB1L3 HGNC HGNC:25147 protein_coding YES CCDS44780.1 ENSP00000396615 Q8NCI6 UPI0001633637 NM_001080407.2 tolerated(0.12) possibly_damaging(0.484) 13/20 PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF59 MODERATE 1 SNV 5 PASS CCC . . 134311112 POTEG . GRCh38 chr14 19434005 19434005 + Missense_Mutation SNP C C G novel 7316-2933 BS_0P3S5YJQ C C c.285G>C p.Arg95Ser p.R95S ENST00000547848 1/11 158 130 13 67 66 0 POTEG,missense_variant,p.Arg95Ser,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Arg95Ser,ENST00000547722,;POTEG,missense_variant,p.Arg95Ser,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; G ENSG00000187537 ENST00000547848 Transcript missense_variant 337/2204 285/1527 95/508 R/S agG/agC 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 tolerated_low_confidence(0.14) possibly_damaging(0.724) 1/11 Gene3D:1.25.40.20,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 MODERATE 1 SNV 1 PASS TCC . . 19434005 AHNAK2 . GRCh38 chr14 104945672 104945672 + Missense_Mutation SNP A A G rs28714612 7316-2933 BS_0P3S5YJQ A A c.9779T>C p.Met3260Thr p.M3260T ENST00000333244 7/7 40 30 8 21 19 0 AHNAK2,missense_variant,p.Met3260Thr,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 9899/18254 9779/17388 3260/5795 M/T aTg/aCg rs28714612,COSM1283337 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.21) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.3852 0.3896 0.389 0.1905 0.496 0.4632 benign 0,1 MODERATE 1 SNV 5 0,1 PASS CAT . . 0.4327 0.3563 0.2766 0.6295 0.1399 0.3459 0.5049 0.4675 0.4823 104945672 LYSMD2 . GRCh38 chr15 51737514 51737514 + Missense_Mutation SNP C C T novel 7316-2933 BS_0P3S5YJQ C C c.109G>A p.Glu37Lys p.E37K ENST00000267838 1/3 69 43 24 22 22 0 LYSMD2,missense_variant,p.Glu37Lys,ENST00000267838,NM_153374.2;LYSMD2,intron_variant,,ENST00000454181,NM_001143917.1;LYSMD2,intron_variant,,ENST00000558126,;LYSMD2,intron_variant,,ENST00000560491,;,regulatory_region_variant,,ENSR00000076616,; T ENSG00000140280 ENST00000267838 Transcript missense_variant 624/1759 109/648 37/215 E/K Gag/Aag 1 -1 LYSMD2 HGNC HGNC:28571 protein_coding YES CCDS10143.1 ENSP00000267838 Q8IV50 UPI000007469F NM_153374.2 deleterious_low_confidence(0.01) possibly_damaging(0.47) 1/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR20932,hmmpanther:PTHR20932:SF4 MODERATE 1 SNV 1 PASS TCC . . 51737514 DRAIC . GRCh38 chr15 69837423 69837423 + Splice_Region SNP C C T rs1299544094 7316-2933 BS_0P3S5YJQ C C n.44-5C>T ENST00000558385 63 52 8 27 26 0 DRAIC,splice_region_variant,,ENST00000558385,;DRAIC,splice_region_variant,,ENST00000560853,;DRAIC,intron_variant,,ENST00000647319,; T ENSG00000245750 ENST00000558385 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1299544094 1 1 DRAIC HGNC HGNC:27082 lincRNA 1/3 LOW SNV 3 PASS CCT . . 69837423 FES . GRCh38 chr15 90887211 90887211 + Missense_Mutation SNP A A G novel 7316-2933 BS_0P3S5YJQ A A c.509A>G p.Asp170Gly p.D170G ENST00000328850 5/19 88 53 34 36 35 0 FES,missense_variant,p.Asp170Gly,ENST00000328850,NM_002005.3;FES,missense_variant,p.Asp112Gly,ENST00000414248,NM_001143785.1;FES,missense_variant,p.Asp112Gly,ENST00000394300,NM_001143783.1;FES,missense_variant,p.Asp170Gly,ENST00000444422,NM_001143784.1;FES,missense_variant,p.Asp112Gly,ENST00000394302,;FURIN,downstream_gene_variant,,ENST00000268171,NM_002569.3;FES,downstream_gene_variant,,ENST00000416779,;FES,downstream_gene_variant,,ENST00000443697,;FES,downstream_gene_variant,,ENST00000452243,;FES,downstream_gene_variant,,ENST00000559355,;FURIN,downstream_gene_variant,,ENST00000610579,NM_001289823.1;FURIN,downstream_gene_variant,,ENST00000618099,NM_001289824.1;FES,upstream_gene_variant,,ENST00000448367,;FES,missense_variant,p.Asp170Gly,ENST00000464684,;FES,3_prime_UTR_variant,,ENST00000470152,;FES,non_coding_transcript_exon_variant,,ENST00000497945,;FES,upstream_gene_variant,,ENST00000462476,;FES,downstream_gene_variant,,ENST00000481665,;FES,upstream_gene_variant,,ENST00000494259,;FES,upstream_gene_variant,,ENST00000496379,; G ENSG00000182511 ENST00000328850 Transcript missense_variant 651/2829 509/2469 170/822 D/G gAc/gGc 1 1 FES HGNC HGNC:3657 protein_coding YES CCDS10365.1 ENSP00000331504 P07332 A0A024RC92 UPI0000001C30 NM_002005.3 deleterious(0) benign(0.367) 5/19 Gene3D:1.20.1170.10,PIRSF_domain:PIRSF000632,PROSITE_profiles:PS51741,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF197,Superfamily_domains:SSF103657,cd07685,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GAC . . 90887211 CASKIN1 . GRCh38 chr16 2196431 2196431 + Translation_Start_Site SNP A A C novel 7316-2933 BS_0P3S5YJQ A A c.2T>G p.Met1? p.M1? ENST00000343516 1/20 61 51 6 11 11 0 CASKIN1,start_lost,p.Met1?,ENST00000343516,NM_020764.3;,regulatory_region_variant,,ENSR00000082453,; C ENSG00000167971 ENST00000343516 Transcript start_lost 95/5759 2/4296 1/1431 M/R aTg/aGg 1 -1 CASKIN1 HGNC HGNC:20879 protein_coding YES CCDS42103.1 ENSP00000345436 Q8WXD9 UPI0000073A3B NM_020764.3 deleterious(0) possibly_damaging(0.841) 1/20 Gene3D:1.25.40.20 HIGH 1 SNV 1 PASS CAT . . 2196431 KATNB1 . GRCh38 chr16 57753456 57753456 + Missense_Mutation SNP T T C novel 7316-2933 BS_0P3S5YJQ T T c.1114T>C p.Ser372Pro p.S372P ENST00000379661 12/20 59 44 6 19 19 0 KATNB1,missense_variant,p.Ser372Pro,ENST00000379661,NM_005886.2;KIFC3,downstream_gene_variant,,ENST00000379655,NM_005550.3;KIFC3,downstream_gene_variant,,ENST00000421376,NM_001130099.1;KIFC3,downstream_gene_variant,,ENST00000445690,NM_001130100.1;KIFC3,downstream_gene_variant,,ENST00000465878,NM_001318715.1;KIFC3,downstream_gene_variant,,ENST00000541240,NM_001318710.1;KATNB1,downstream_gene_variant,,ENST00000562592,;KATNB1,upstream_gene_variant,,ENST00000563462,;KIFC3,downstream_gene_variant,,ENST00000565397,;KATNB1,downstream_gene_variant,,ENST00000566726,;KATNB1,downstream_gene_variant,,ENST00000569627,;KATNB1,non_coding_transcript_exon_variant,,ENST00000566611,;KATNB1,upstream_gene_variant,,ENST00000562542,;KATNB1,downstream_gene_variant,,ENST00000563127,;KATNB1,upstream_gene_variant,,ENST00000569018,; C ENSG00000140854 ENST00000379661 Transcript missense_variant 1506/2664 1114/1968 372/655 S/P Tcc/Ccc 1 1 KATNB1 HGNC HGNC:6217 protein_coding YES CCDS10788.1 ENSP00000368982 Q9BVA0 UPI000007388F NM_005886.2 tolerated(0.06) probably_damaging(0.991) 12/20 Low_complexity_(Seg):seg,mobidb-lite,HAMAP:MF_03022,hmmpanther:PTHR19845,hmmpanther:PTHR19845:SF0 MODERATE SNV 5 1 PASS GTC . . 57753456 AKAP10 . GRCh38 chr17 19968440 19968440 + Missense_Mutation SNP T T A novel 7316-2933 BS_0P3S5YJQ T T c.110A>T p.Lys37Met p.K37M ENST00000225737 2/15 67 46 21 37 36 1 AKAP10,missense_variant,p.Lys37Met,ENST00000225737,NM_007202.3;AKAP10,missense_variant,p.Lys37Met,ENST00000395536,;AKAP10,missense_variant,p.Lys37Met,ENST00000576896,;AKAP10,non_coding_transcript_exon_variant,,ENST00000572155,;AKAP10,missense_variant,p.Lys37Met,ENST00000582611,;AKAP10,missense_variant,p.Lys37Met,ENST00000571858,;AKAP10,missense_variant,p.Lys37Met,ENST00000572341,; A ENSG00000108599 ENST00000225737 Transcript missense_variant 268/4072 110/1989 37/662 K/M aAg/aTg 1 -1 AKAP10 HGNC HGNC:368 protein_coding YES CCDS11214.1 ENSP00000225737 O43572 A0A0S2Z4Z7 UPI000006E08E NM_007202.3 deleterious_low_confidence(0) possibly_damaging(0.862) 2/15 mobidb-lite MODERATE 1 SNV 1 1 PASS CTT . . 19968440 EFCAB5 . GRCh38 chr17 30054149 30054149 + Splice_Site SNP G G T novel 7316-2933 BS_0P3S5YJQ G G c.2194+1G>T p.X732_splice ENST00000394835 57 50 7 41 41 0 EFCAB5,splice_donor_variant,,ENST00000394835,NM_198529.3;EFCAB5,splice_donor_variant,,ENST00000419434,;EFCAB5,splice_donor_variant,,ENST00000536908,NM_001145053.1;EFCAB5,splice_donor_variant,,ENST00000588978,;RNY4P13,downstream_gene_variant,,ENST00000384284,;EFCAB5,downstream_gene_variant,,ENST00000584826,;EFCAB5,splice_donor_variant,,ENST00000423598,;EFCAB5,splice_donor_variant,,ENST00000440741,;EFCAB5,upstream_gene_variant,,ENST00000581617,;AC104996.3,downstream_gene_variant,,ENST00000590718,; T ENSG00000176927 ENST00000394835 Transcript splice_donor_variant 1 1 EFCAB5 HGNC HGNC:24801 protein_coding YES CCDS11254.2 ENSP00000378312 A4FU69 UPI0000E59EF5 NM_198529.3 10/22 HIGH 1 SNV 1 PASS GGT . . 30054149 KRT10 . GRCh38 chr17 40822514 40822516 + In_Frame_Del DEL TCC TCC - rs148510452 7316-2933 BS_0P3S5YJQ TCC TCC c.70_72del p.Gly24del p.G24del ENST00000269576 1/8 52 41 5 35 28 0 KRT10,inframe_deletion,p.Gly24del,ENST00000269576,NM_000421.3;TMEM99,intron_variant,,ENST00000301665,NM_145274.3,NM_001195387.1;TMEM99,intron_variant,,ENST00000436612,;TMEM99,intron_variant,,ENST00000622451,NM_001195386.1;KRT10,upstream_gene_variant,,ENST00000635956,;TMEM99,intron_variant,,ENST00000496847,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; - ENSG00000186395 ENST00000269576 Transcript inframe_deletion 80-82/2124 70-72/1755 24/584 G/- GGA/- rs148510452,TMP_ESP_17_38978766_38978768,COSM392056 1 -1 KRT10 HGNC HGNC:6413 protein_coding YES CCDS11377.1 ENSP00000269576 P13645 UPI000013D842 NM_000421.3 1/8 hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF137,mobidb-lite,Low_complexity_(Seg):seg 0.162 0.181 0,0,1 MODERATE 1 deletion 1 0,0,1 1 PASS CATCCT . . 0.01958 0.01646 0.01539 0.01484 0.0164 0.02007 0.0194 0.01894 0.02899 40822513 ZNF100 . GRCh38 chr19 21726932 21726932 + Missense_Mutation SNP G G T rs533592689 7316-2933 BS_0P3S5YJQ G G c.1380C>A p.Asp460Glu p.D460E ENST00000358296 5/5 57 49 7 28 28 0 ZNF100,missense_variant,p.Asp460Glu,ENST00000358296,NM_173531.3;ZNF100,missense_variant,p.Asp396Glu,ENST00000305570,;ZNF100,missense_variant,p.Asp459Glu,ENST00000608416,;ZNF100,downstream_gene_variant,,ENST00000594401,; T ENSG00000197020 ENST00000358296 Transcript missense_variant 1579/5745 1380/1629 460/542 D/E gaC/gaA rs533592689,COSM5855238 1 -1 ZNF100 HGNC HGNC:12880 protein_coding YES CCDS42538.1 ENSP00000351042 Q8IYN0 UPI00001614AC NM_173531.3 tolerated(1) benign(0) 5/5 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 4.153e-06 0.0001028 21726932 LRP3 . GRCh38 chr19 33194811 33194811 + Missense_Mutation SNP T T G novel 7316-2933 BS_0P3S5YJQ T T c.26T>G p.Leu9Arg p.L9R ENST00000253193 1/7 46 33 11 18 18 0 LRP3,missense_variant,p.Leu9Arg,ENST00000253193,NM_002333.3;LRP3,intron_variant,,ENST00000592484,;LRP3,upstream_gene_variant,,ENST00000590275,;,regulatory_region_variant,,ENSR00000108781,; G ENSG00000130881 ENST00000253193 Transcript missense_variant 228/3807 26/2313 9/770 L/R cTg/cGg 1 1 LRP3 HGNC HGNC:6695 protein_coding YES CCDS12430.1 ENSP00000253193 O75074 UPI0000047A9C NM_002333.3 tolerated_low_confidence(0.27) benign(0.005) 1/7 MODERATE 1 SNV 1 PASS CTG . . 33194811 PAF1 . GRCh38 chr19 39389370 39389370 + Missense_Mutation SNP C C T 7316-2933 BS_0P3S5YJQ C C c.373G>A p.Ala125Thr p.A125T ENST00000221265 6/14 65 37 28 35 35 0 PAF1,missense_variant,p.Ala125Thr,ENST00000221265,NM_019088.3;PAF1,missense_variant,p.Ala115Thr,ENST00000595564,NM_001256826.1;SAMD4B,downstream_gene_variant,,ENST00000314471,NM_018028.3;MED29,upstream_gene_variant,,ENST00000315588,NM_017592.2;MED29,upstream_gene_variant,,ENST00000594368,NM_001317770.1;PAF1,upstream_gene_variant,,ENST00000595379,;MED29,upstream_gene_variant,,ENST00000596297,;SAMD4B,downstream_gene_variant,,ENST00000596368,;MED29,upstream_gene_variant,,ENST00000599213,;SAMD4B,downstream_gene_variant,,ENST00000610417,;SAMD4B,downstream_gene_variant,,ENST00000611159,;MED29,upstream_gene_variant,,ENST00000615911,;PAF1,missense_variant,p.Ala72Thr,ENST00000416728,;PAF1,non_coding_transcript_exon_variant,,ENST00000595797,;SAMD4B,downstream_gene_variant,,ENST00000596271,;PAF1,downstream_gene_variant,,ENST00000597365,;PAF1,downstream_gene_variant,,ENST00000598127,;PAF1,upstream_gene_variant,,ENST00000598594,;MED29,upstream_gene_variant,,ENST00000599417,;MED29,upstream_gene_variant,,ENST00000600973,; T ENSG00000006712 ENST00000221265 Transcript missense_variant 704/2066 373/1596 125/531 A/T Gcg/Acg COSM4710828,COSM4710827 1 -1 PAF1 HGNC HGNC:25459 protein_coding YES CCDS12533.1 ENSP00000221265 Q8N7H5 A0A024R0H6 UPI000006D489 NM_019088.3 tolerated(0.21) benign(0.396) 6/14 Pfam_domain:PF03985,hmmpanther:PTHR23188,hmmpanther:PTHR23188:SF12 1,1 MODERATE 1 SNV 1 1,1 PASS GCG . . 39389370 ZNF761 . GRCh38 chr19 53455883 53455883 + Missense_Mutation SNP G G T rs779549000 7316-2933 BS_0P3S5YJQ G G c.1376G>T p.Arg459Leu p.R459L ENST00000432094 5/5 67 59 6 34 34 0 ZNF761,missense_variant,p.Arg459Leu,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.Arg459Leu,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; T ENSG00000160336 ENST00000432094 Transcript missense_variant 1683/4061 1376/2241 459/746 R/L cGt/cTt rs779549000,COSM1293825 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 tolerated(0.42) benign(0.005) 5/5 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,hmmpanther:PTHR24377:SF330,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 8.148e-06 1.795e-05 53455883 ZNF814 . GRCh38 chr19 57872876 57872876 + Missense_Mutation SNP G G C novel 7316-2933 BS_0P3S5YJQ G G c.2514C>G p.Asn838Lys p.N838K ENST00000435989 3/3 60 53 7 52 48 0 ZNF814,missense_variant,p.Asn838Lys,ENST00000435989,NM_001144989.1;ZNF814,missense_variant,p.Asn560Lys,ENST00000614383,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,downstream_gene_variant,,ENST00000597807,;AC010326.3,upstream_gene_variant,,ENST00000597780,;ZNF814,intron_variant,,ENST00000594629,;AC010326.4,downstream_gene_variant,,ENST00000604665,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,upstream_gene_variant,,ENST00000594159,;AC010326.2,downstream_gene_variant,,ENST00000602124,;AC010326.4,downstream_gene_variant,,ENST00000603829,; C ENSG00000204514 ENST00000435989 Transcript missense_variant 2749/3146 2514/2568 838/855 N/K aaC/aaG 1 -1 ZNF814 HGNC HGNC:33258 protein_coding YES CCDS46212.1 ENSP00000410545 B7Z6K7 UPI0001662BAD NM_001144989.1 tolerated(0.71) benign(0.015) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF619,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TGT . . 57872876 ADRA1D . GRCh38 chr20 4248830 4248830 + Missense_Mutation SNP A A C novel 7316-2933 BS_0P3S5YJQ A A c.128T>G p.Val43Gly p.V43G ENST00000379453 1/2 63 49 11 9 9 0 ADRA1D,missense_variant,p.Val43Gly,ENST00000379453,NM_000678.3;,regulatory_region_variant,,ENSR00000133896,; C ENSG00000171873 ENST00000379453 Transcript missense_variant 245/2728 128/1719 43/572 V/G gTg/gGg 1 -1 ADRA1D HGNC HGNC:280 protein_coding YES CCDS13079.1 ENSP00000368766 P25100 B0ZBE0 UPI000003B078 NM_000678.3 tolerated_low_confidence(0.23) benign(0.045) 1/2 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CAC . . 4248830 LINC01428 . GRCh38 chr20 7146651 7146651 + Splice_Region SNP G G T novel 7316-2933 BS_0P3S5YJQ G G n.694-4C>A ENST00000449581 68 52 5 18 18 0 LINC01428,splice_region_variant,,ENST00000449581,;AL096799.1,non_coding_transcript_exon_variant,,ENST00000425900,; T ENSG00000228888 ENST00000449581 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 LINC01428 HGNC HGNC:50738 lincRNA YES 7/7 LOW 1 SNV 1 PASS GGA . . 7146651 TRPC4AP . GRCh38 chr20 35092700 35092700 + Missense_Mutation SNP A A C novel 7316-2933 BS_0P3S5YJQ A A c.82T>G p.Trp28Gly p.W28G ENST00000252015 1/19 87 73 12 23 21 0 TRPC4AP,missense_variant,p.Trp28Gly,ENST00000252015,NM_015638.2;TRPC4AP,missense_variant,p.Trp28Gly,ENST00000451813,NM_199368.1;,regulatory_region_variant,,ENSR00000136506,; C ENSG00000100991 ENST00000252015 Transcript missense_variant 172/3226 82/2394 28/797 W/G Tgg/Ggg 1 -1 TRPC4AP HGNC HGNC:16181 protein_coding YES CCDS13246.1 ENSP00000252015 Q8TEL6 UPI000004FADD NM_015638.2 tolerated_low_confidence(0.58) benign(0.031) 1/19 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAT . . 35092700 ARHGAP40 . GRCh38 chr20 38643696 38643696 + Splice_Region SNP T T A novel 7316-2933 BS_0P3S5YJQ T T c.1204-8T>A ENST00000373345 61 39 21 35 34 0 ARHGAP40,splice_region_variant,,ENST00000243967,;ARHGAP40,splice_region_variant,,ENST00000373345,NM_001164431.1;ARHGAP40,upstream_gene_variant,,ENST00000373346,;ARHGAP40,upstream_gene_variant,,ENST00000414158,; A ENSG00000124143 ENST00000373345 Transcript splice_region_variant,intron_variant 1 1 ARHGAP40 HGNC HGNC:16226 protein_coding YES ENSP00000362442 Q5TG30 UPI0000DD8570 NM_001164431.1 10/14 LOW 1 SNV 5 PASS CTT . . 38643696 TNFRSF13C . GRCh38 chr22 41926712 41926712 + Missense_Mutation SNP G C C rs77874543 7316-2933 BS_0P3S5YJQ G G c.62C>G p.Pro21Arg p.P21R ENST00000291232 1/3 81 0 80 18 13 5 TNFRSF13C,missense_variant,p.Pro21Arg,ENST00000291232,NM_052945.3;MIR378I,upstream_gene_variant,,ENST00000582688,;,regulatory_region_variant,,ENSR00000146687,; C ENSG00000159958 ENST00000291232 Transcript missense_variant 107/3944 62/555 21/184 P/R cCg/cGg rs77874543,CM125188 1 -1 TNFRSF13C HGNC HGNC:17755 protein_coding YES CCDS14024.1 ENSP00000291232 Q96RJ3 Q5H8V1 UPI0000049F80 NM_052945.3 tolerated(0.18) benign(0.075) 1/3 hmmpanther:PTHR20437:SF2,hmmpanther:PTHR20437,Pfam_domain:PF09256,Superfamily_domains:SSF57586,Prints_domain:PR01964 0.0445 0.0053 0.0548 0.0367 0.0795 0.0624 0.004386 0.03194 likely_benign 25454804 MODERATE 1 SNV 1 1,1 1 PASS CGG . . 0.06089 0.01471 0.03478 0.0481 0.03552 0.08052 0.07741 0.05846 0.05988 41926712 TUBGCP6 . GRCh38 chr22 50220818 50220818 + Missense_Mutation SNP C C A 7316-2933 BS_0P3S5YJQ C C c.3541G>T p.Ala1181Ser p.A1181S ENST00000248846 16/25 51 22 8 37 34 0 TUBGCP6,missense_variant,p.Ala1181Ser,ENST00000439308,;TUBGCP6,missense_variant,p.Ala1181Ser,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; A ENSG00000128159 ENST00000248846 Transcript missense_variant 3646/5612 3541/5460 1181/1819 A/S Gcc/Tcc COSM3065045 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 tolerated(1) benign(0.001) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 1 MODERATE 1 SNV 1 1 1 PASS GCG . . 50220818 NR0B1 . GRCh38 chrX 30309153 30309153 + Missense_Mutation SNP T T C rs1337699275 7316-2933 BS_0P3S5YJQ T T c.211A>G p.Lys71Glu p.K71E ENST00000378970 1/2 66 47 11 32 30 1 NR0B1,missense_variant,p.Lys71Glu,ENST00000378970,NM_000475.4;NR0B1,upstream_gene_variant,,ENST00000378963,; C ENSG00000169297 ENST00000378970 Transcript missense_variant 446/2021 211/1413 71/470 K/E Aaa/Gaa rs1337699275,COSM6287149,COSM6287148 1 -1 NR0B1 HGNC HGNC:7960 protein_coding YES CCDS14223.1 ENSP00000368253 P51843 F1D8P4 UPI0000128ED4 NM_000475.4 tolerated_low_confidence(1) benign(0) 1/2 hmmpanther:PTHR24081:SF1,hmmpanther:PTHR24081,Pfam_domain:PF14046 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS TTA . . 30309153 USP9X . GRCh38 chrX 41216334 41216334 + Nonsense_Mutation SNP G G T novel 7316-2933 BS_0P3S5YJQ G G c.5767G>T p.Gly1923Ter p.G1923* ENST00000324545 35/45 60 53 6 30 30 0 USP9X,stop_gained,p.Gly1923Ter,ENST00000324545,NM_001039590.2;USP9X,stop_gained,p.Gly1923Ter,ENST00000378308,NM_001039591.2; T ENSG00000124486 ENST00000324545 Transcript stop_gained 6400/12401 5767/7713 1923/2570 G/* Gga/Tga 1 1 USP9X HGNC HGNC:12632 protein_coding YES CCDS43930.1 ENSP00000316357 Q93008 UPI00001AF419 NM_001039590.2 35/45 Gene3D:3.90.70.10,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR44353,hmmpanther:PTHR44353:SF3,Superfamily_domains:SSF54001,cd02659 HIGH 1 SNV 5 1 PASS TGG . . 41216334 MTMR8 . GRCh38 chrX 64354892 64354892 + Missense_Mutation SNP G G T novel 7316-2933 BS_0P3S5YJQ G G c.353C>A p.Ser118Tyr p.S118Y ENST00000374852 4/14 66 53 13 25 25 0 MTMR8,missense_variant,p.Ser118Tyr,ENST00000374852,NM_017677.3;MTMR8,upstream_gene_variant,,ENST00000461403,; T ENSG00000102043 ENST00000374852 Transcript missense_variant 421/2639 353/2115 118/704 S/Y tCc/tAc 1 -1 MTMR8 HGNC HGNC:16825 protein_coding YES CCDS14379.1 ENSP00000363985 Q96EF0 UPI000006DFF7 NM_017677.3 tolerated(0.37) benign(0.335) 4/14 hmmpanther:PTHR10807:SF36,hmmpanther:PTHR10807,Gene3D:3.90.190.10,Pfam_domain:PF06602 MODERATE 1 SNV 1 PASS GGA . . 64354892 POF1B . GRCh38 chrX 85379408 85379408 + Missense_Mutation SNP G G T rs749094973 7316-2933 BS_0P3S5YJQ G G c.47C>A p.Thr16Asn p.T16N ENST00000373145 2/16 44 34 9 28 28 0 POF1B,missense_variant,p.Thr16Asn,ENST00000262753,NM_024921.3;POF1B,missense_variant,p.Thr16Asn,ENST00000373145,NM_001307940.1; T ENSG00000124429 ENST00000373145 Transcript missense_variant 167/1972 47/1788 16/595 T/N aCc/aAc rs749094973 1 -1 POF1B HGNC HGNC:13711 protein_coding YES CCDS78497.1 ENSP00000362238 Q8WVV4 UPI00001AE9F1 NM_001307940.1 deleterious_low_confidence(0.04) benign(0.003) 2/16 hmmpanther:PTHR22546 MODERATE 1 SNV 1 1 PASS GGT . . 85379408 RNF128 . GRCh38 chrX 106694222 106694223 + In_Frame_Ins INS - - ACT novel 7316-2933 BS_0P3S5YJQ - - c.223_225dup p.Tyr75dup p.Y75dup ENST00000324342 1/7 59 44 12 44 42 0 RNF128,inframe_insertion,p.Tyr75dup,ENST00000324342,NM_024539.3;RNF128,inframe_insertion,p.Tyr48dup,ENST00000418562,; ACT ENSG00000133135 ENST00000324342 Transcript inframe_insertion 385-386/2654 220-221/1209 74/402 N/NY aac/aACTac 1 1 RNF128 HGNC HGNC:21153 protein_coding CCDS14520.1 ENSP00000316127 Q8TEB7 UPI00001C0CAA NM_024539.3 1/7 Gene3D:3.50.30.30,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF30,cd02122 MODERATE 1 insertion 1 5 PASS TAA . . 106694222 HMGB3 . GRCh38 chrX 150986178 150986178 + Missense_Mutation SNP C C T novel 7316-2933 BS_0P3S5YJQ C C c.278C>T p.Pro93Leu p.P93L ENST00000325307 3/5 45 27 17 31 31 0 HMGB3,missense_variant,p.Pro93Leu,ENST00000325307,NM_001301229.1,NM_005342.3,NM_001301231.1;HMGB3,missense_variant,p.Pro93Leu,ENST00000448905,NM_001301228.1;HMGB3,missense_variant,p.Pro93Leu,ENST00000455596,;HMGB3,missense_variant,p.Pro93Leu,ENST00000419110,;HMGB3,missense_variant,p.Pro93Leu,ENST00000430118,; T ENSG00000029993 ENST00000325307 Transcript missense_variant 374/3560 278/603 93/200 P/L cCc/cTc 1 1 HMGB3 HGNC HGNC:5004 protein_coding YES CCDS35428.1 ENSP00000359393 O15347 UPI00000362ED NM_001301229.1,NM_005342.3,NM_001301231.1 deleterious(0.03) benign(0.355) 3/5 PDB-ENSP_mappings:2yqi.A,Low_complexity_(Seg):seg,mobidb-lite,cd01390,Gene3D:1.10.30.10,Pfam_domain:PF00505,SMART_domains:SM00398,Superfamily_domains:SSF47095,PROSITE_profiles:PS50118,hmmpanther:PTHR13711:SF144,hmmpanther:PTHR13711 MODERATE 1 SNV 1 1 PASS CCC . . 150986178 ITGB6 . GRCh38 chr2 160101838 160101838 + Splice_Region SNP G G A novel 7316-1775 BS_7NEND0C1 G G c.2269-4C>T ENST00000283249 94 86 5 49 46 0 ITGB6,splice_region_variant,,ENST00000283249,NM_001282389.1,NM_001282353.1,NM_000888.4;ITGB6,splice_region_variant,,ENST00000409872,;ITGB6,splice_region_variant,,ENST00000409967,NM_001282355.1;ITGB6,splice_region_variant,,ENST00000428609,NM_001282388.1;ITGB6,splice_region_variant,,ENST00000620391,NM_001282354.1,NM_001282390.1;ITGB6,splice_region_variant,,ENST00000475438,;ITGB6,splice_region_variant,,ENST00000409583,; A ENSG00000115221 ENST00000283249 Transcript splice_region_variant,intron_variant 1 -1 ITGB6 HGNC HGNC:6161 protein_coding YES CCDS2212.1 ENSP00000283249 P18564 UPI000012DA13 NM_001282389.1,NM_001282353.1,NM_000888.4 14/14 LOW 1 SNV 1 1 PASS GGA . . 160101838 CTNNB1 . GRCh38 chr3 41224612 41224612 + Missense_Mutation SNP G G C 7316-1775 BS_7NEND0C1 G G c.100G>C p.Gly34Arg p.G34R ENST00000645320 3/15 87 49 37 46 45 0 CTNNB1,missense_variant,p.Gly34Arg,ENST00000645320,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000349496,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000441708,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Gly34Arg,ENST00000433400,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000644524,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000644678,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000642986,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000645900,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000643297,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000643541,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Gly34Arg,ENST00000643031,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000646381,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000642836,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000645493,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000645210,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000642992,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000645276,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000644867,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000644873,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000642886,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000643977,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000647264,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000646174,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000642315,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000643992,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000647390,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000645982,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000644138,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000642248,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000646116,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000646725,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000642426,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000405570,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000646369,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000647413,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; C ENSG00000168036 ENST00000645320 Transcript missense_variant 1943/4735 100/2346 34/781 G/R Gga/Cga COSM5686,COSM5684,COSM3660550 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0) probably_damaging(1) 3/15 mobidb-lite,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 1,1,1 MODERATE 1 SNV 1,1,1 1 PASS TGG . . 41224612 SEC31A . GRCh38 chr4 82864412 82864412 + Frame_Shift_Del DEL T T - rs775165101 7316-1775 BS_7NEND0C1 T T c.1384del p.Ile462LeufsTer16 p.I462Lfs*16 ENST00000395310 11/27 87 78 5 42 39 0 SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000395310,NM_001077207.3;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000448323,;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000505472,;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000355196,NM_001318120.1;SEC31A,frameshift_variant,p.Ile457LeufsTer16,ENST00000443462,NM_001191049.2;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000348405,NM_016211.4;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000311785,NM_001077206.3;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000509142,;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000508502,NM_001318119.1,NM_001077208.3;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000513858,NM_001300744.2;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000500777,;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000505984,NM_001300745.2;SEC31A,frameshift_variant,p.Ile234LeufsTer16,ENST00000264405,;SEC31A,frameshift_variant,p.Ile462LeufsTer16,ENST00000508479,;SEC31A,frameshift_variant,p.Ile105LeufsTer16,ENST00000507828,;SEC31A,frameshift_variant,p.Ile63LeufsTer16,ENST00000510167,;SEC31A,frameshift_variant,p.Ile16LeufsTer16,ENST00000512664,;SEC31A,non_coding_transcript_exon_variant,,ENST00000436790,;SEC31A,upstream_gene_variant,,ENST00000512732,; - ENSG00000138674 ENST00000395310 Transcript frameshift_variant 1567/4259 1384/3663 462/1220 I/X Att/tt rs775165101,COSM6855875,COSM6855874,COSM6855873,COSM4448866,COSM315049,COSM315048 1 -1 SEC31A HGNC HGNC:17052 protein_coding YES CCDS3596.1 ENSP00000378721 O94979 A0A024RDD3 UPI000003E7E1 NM_001077207.3 11/27 hmmpanther:PTHR13923,hmmpanther:PTHR13923:SF23 0,1,1,1,1,1,1 HIGH 1 deletion 1 0,1,1,1,1,1,1 PASS AATT . . 8.56e-06 3.189e-05 9.377e-06 82864411 LYRM4 . GRCh38 chr6 5186983 5186983 + Splice_Region SNP T T A rs1336940966 7316-1775 BS_7NEND0C1 T T c.208-3A>T ENST00000500576 73 65 7 38 36 0 LYRM4,splice_region_variant,,ENST00000500576,NM_001164840.2;LYRM4,intron_variant,,ENST00000330636,NM_020408.5;LYRM4,intron_variant,,ENST00000464010,NM_001164841.2;LYRM4,intron_variant,,ENST00000468929,;LYRM4,intron_variant,,ENST00000480566,NM_001318782.1;LYRM4,intron_variant,,ENST00000463032,; A ENSG00000214113 ENST00000500576 Transcript splice_region_variant,intron_variant rs1336940966 1 -1 LYRM4 HGNC HGNC:21365 protein_coding YES CCDS54962.1 ENSP00000443900 F5H189 UPI0001B71BCB NM_001164840.2 2/2 LOW 1 SNV 2 1 PASS TTA . . 5186983 AL022068.1 . GRCh38 chr6 19734599 19734599 + Splice_Region DEL A A - rs112661923 7316-1775 BS_7NEND0C1 A A n.399-4del ENST00000638138 69 49 13 41 32 0 AL022068.1,splice_region_variant,,ENST00000638138,;AL022068.1,intron_variant,,ENST00000432171,;AL022068.1,intron_variant,,ENST00000450310,;AL022068.1,upstream_gene_variant,,ENST00000445568,; - ENSG00000228412 ENST00000638138 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs112661923 1 -1 AL022068.1 Clone_based_ensembl_gene antisense 4/6 LOW deletion 5 PASS TGAA . . 19734598 HLA-DQA1 . GRCh38 chr6 32637480 32637480 + Missense_Mutation SNP C C A rs1047989 7316-1775 BS_7NEND0C1 C C c.22C>A p.Leu8Met p.L8M ENST00000343139 1/5 68 51 17 23 23 0 HLA-DQA1,missense_variant,p.Leu8Met,ENST00000343139,NM_002122.3;HLA-DQA1,missense_variant,p.Leu8Met,ENST00000395363,;HLA-DQA1,missense_variant,p.Leu8Met,ENST00000374949,;HLA-DQA1,missense_variant,p.Leu8Met,ENST00000496318,;HLA-DQA1,missense_variant,p.Leu8Met,ENST00000422863,;HLA-DQA1,missense_variant,p.Leu8Met,ENST00000482745,;HLA-DQA1,non_coding_transcript_exon_variant,,ENST00000460633,;,regulatory_region_variant,,ENSR00000195698,; A ENSG00000196735 ENST00000343139 Transcript missense_variant 124/1591 22/768 8/255 L/M Ctg/Atg rs1047989,COSM4160984 1 1 HLA-DQA1 HGNC HGNC:4942 protein_coding YES CCDS4752.1 ENSP00000339398 P01909 A0A173ADG5 UPI0000140E19 NM_002122.3 tolerated(0.11) benign(0.007) 1/5 hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF54,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0.4718 0.407 0.6196 0.4345 0.5358 0.4274 0.4015 0.5487 0,1 MODERATE 1 SNV 0,1 1 PASS GCT . . 0.474 0.324 0.5704 0.5772 0.4552 0.3754 0.497 0.4646 0.4113 32637480 TRGC1 . GRCh38 chr7 38260126 38260126 + Missense_Mutation SNP T T C rs138027161 7316-1775 BS_7NEND0C1 T T c.483A>G p.Arg162Gly p.R162G ENST00000443402 3/3 54 36 17 21 21 0 TRGC1,missense_variant,p.Arg162Gly,ENST00000443402,NM_001003806.1;TRGJP2,upstream_gene_variant,,ENST00000390334,; C ENSG00000211689 ENST00000443402 Transcript missense_variant 483/2730 484/522 162/173 R/G Aga/Gga rs138027161 1 -1 TRGC1 HGNC HGNC:12275 TR_C_gene YES ENSP00000404817 A0A075B6Q9 UPI0000F3036A NM_001003806.1 tolerated(0.26) benign(0.17) 3/3 MODERATE 1 SNV PASS CTA . . 0.4194 0.3451 0.4614 0.4518 0.4592 0.363 0.4136 0.4089 0.4419 38260126 FAM86B1 . GRCh38 chr8 12186441 12186444 + Frame_Shift_Del DEL CTGT CTGT - rs777526481 7316-1775 BS_7NEND0C1 CTGT CTGT c.548_551del p.Asp183AlafsTer4 p.D183Afs*4 ENST00000448228 5/7 76 51 20 39 37 2 FAM86B1,frameshift_variant,p.Asp183AlafsTer4,ENST00000448228,NM_001083537.1;FAM86B1,frameshift_variant,p.Asp217AlafsTer4,ENST00000533852,;FAM86B1,3_prime_UTR_variant,,ENST00000524571,;FAM86B1,intron_variant,,ENST00000534520,;FAM86B1,downstream_gene_variant,,ENST00000533513,;FAM86B1,3_prime_UTR_variant,,ENST00000431227,;FAM86B1,3_prime_UTR_variant,,ENST00000526708,;FAM86B1,non_coding_transcript_exon_variant,,ENST00000529617,;FAM86B1,intron_variant,,ENST00000340537,;FAM86B1,intron_variant,,ENST00000524893,;FAM86B1,intron_variant,,ENST00000525822,;FAM86B1,intron_variant,,ENST00000527300,;FAM86B1,intron_variant,,ENST00000529060,;FAM86B1,intron_variant,,ENST00000529146,;FAM86B1,intron_variant,,ENST00000530385,;FAM86B1,intron_variant,,ENST00000531833,;FAM86B1,intron_variant,,ENST00000534187,;FAM86B1,intron_variant,,ENST00000534732,;FAM86B1,upstream_gene_variant,,ENST00000530508,;ALG1L11P,downstream_gene_variant,,ENST00000511660,; - ENSG00000186523 ENST00000448228 Transcript frameshift_variant 598-601/2096 548-551/891 183-184/296 DS/X gACAGc/gc rs777526481 1 -1 FAM86B1 HGNC HGNC:28268 protein_coding YES CCDS59512.1 ENSP00000407067 Q8N7N1 UPI0000F58EC4 NM_001083537.1 5/7 hmmpanther:PTHR14614:SF25,hmmpanther:PTHR14614,Gene3D:3.40.50.150,Pfam_domain:PF10294,Superfamily_domains:SSF53335 0.003378 0.008718 HIGH 1 deletion 5 PASS GGCTGTC . . 0.0003605 0.0005773 0.0002806 0.0003559 0.0001464 0.0004727 0.0004283 0.000873 7.838e-05 12186440 SNX15 . GRCh38 chr11 65035128 65035128 + Missense_Mutation SNP A A C rs1264440961 7316-1775 BS_7NEND0C1 A A c.442A>C p.Thr148Pro p.T148P ENST00000377244 5/8 83 68 9 39 39 0 SNX15,missense_variant,p.Thr148Pro,ENST00000377244,NM_013306.4;SNX15,missense_variant,p.Thr148Pro,ENST00000352068,NM_147777.3;SNX15,missense_variant,p.Thr144Pro,ENST00000534637,;SNX15,missense_variant,p.Thr136Pro,ENST00000524831,;SNX15,downstream_gene_variant,,ENST00000525648,;ARL2-SNX15,3_prime_UTR_variant,,ENST00000301886,;SNX15,non_coding_transcript_exon_variant,,ENST00000526702,;SNX15,downstream_gene_variant,,ENST00000529673,; C ENSG00000110025 ENST00000377244 Transcript missense_variant 572/1939 442/1029 148/342 T/P Acc/Ccc rs1264440961 1 1 SNX15 HGNC HGNC:14978 protein_coding YES CCDS8089.1 ENSP00000366452 Q9NRS6 E5KQS5 UPI0000135B4B NM_013306.4 tolerated(0.35) benign(0.406) 5/8 Low_complexity_(Seg):seg,hmmpanther:PTHR15508,hmmpanther:PTHR15508:SF7 MODERATE 1 SNV 1 PASS CAC . . 3.785e-05 0.0001175 0.0002926 3.695e-05 65035128 TAS2R30 . GRCh38 chr12 11134103 11134103 + Missense_Mutation SNP G G C rs113026132 7316-1775 BS_7NEND0C1 G G c.142C>G p.Leu48Val p.L48V ENST00000539585 1/1 85 72 11 50 50 0 TAS2R30,missense_variant,p.Leu48Val,ENST00000539585,NM_001097643.1;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541175,;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,;,regulatory_region_variant,,ENSR00000048763,; C ENSG00000256188 ENST00000539585 Transcript missense_variant 542/1687 142/960 48/319 L/V Ctc/Gtc rs113026132,COSM4593702 1 -1 TAS2R30 HGNC HGNC:19112 protein_coding YES CCDS53750.1 ENSP00000444736 P59541 UPI000006202F NM_001097643.1 deleterious(0.05) possibly_damaging(0.519) 1/1 Transmembrane_helices:TMhelix,cd15027,hmmpanther:PTHR11394:SF48,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS AGA . . 2.033e-05 8.94e-05 1.795e-05 11134103 TAS2R30 . GRCh38 chr12 11134114 11134114 + Missense_Mutation SNP A A G rs113799622 7316-1775 BS_7NEND0C1 A A c.131T>C p.Val44Ala p.V44A ENST00000539585 1/1 91 77 11 45 45 0 TAS2R30,missense_variant,p.Val44Ala,ENST00000539585,NM_001097643.1;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541175,;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,;,regulatory_region_variant,,ENSR00000048763,; G ENSG00000256188 ENST00000539585 Transcript missense_variant 531/1687 131/960 44/319 V/A gTt/gCt rs113799622,COSM1948727 1 -1 TAS2R30 HGNC HGNC:19112 protein_coding YES CCDS53750.1 ENSP00000444736 P59541 UPI000006202F NM_001097643.1 tolerated(1) benign(0.003) 1/1 cd15027,hmmpanther:PTHR11394:SF48,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0.0002 0.0008 0,1 MODERATE SNV 0,1 PASS AAC . . 8.133e-06 6.543e-05 8.973e-06 11134114 WDR59 . GRCh38 chr16 74908984 74908984 + Splice_Region SNP G G A rs199978446 7316-1775 BS_7NEND0C1 G G c.1643-7C>T ENST00000262144 68 60 7 44 44 0 WDR59,splice_region_variant,,ENST00000262144,NM_030581.3;WDR59,splice_region_variant,,ENST00000569229,;WDR59,splice_region_variant,,ENST00000616369,NM_001324171.1;WDR59,downstream_gene_variant,,ENST00000536050,NM_001324172.1;WDR59,upstream_gene_variant,,ENST00000563797,;WDR59,splice_region_variant,,ENST00000570070,;WDR59,intron_variant,,ENST00000566924,;WDR59,downstream_gene_variant,,ENST00000562371,;WDR59,downstream_gene_variant,,ENST00000562539,;WDR59,upstream_gene_variant,,ENST00000563381,;WDR59,downstream_gene_variant,,ENST00000569549,;WDR59,upstream_gene_variant,,ENST00000569788,; A ENSG00000103091 ENST00000262144 Transcript splice_region_variant,intron_variant rs199978446,COSM4773229 1 -1 WDR59 HGNC HGNC:25706 protein_coding YES CCDS32488.1 ENSP00000262144 Q6PJI9 UPI000019839C NM_030581.3 16/25 0,1 LOW 1 SNV 5 0,1 PASS GGA . . 0.008739 0.005352 0.001675 0.006003 0.00708 0.01821 0.01272 0.005458 0.001927 74908984 C17orf97 . GRCh38 chr17 413771 413771 + Missense_Mutation SNP A A G rs76677042 7316-1775 BS_7NEND0C1 A A c.928A>G p.Lys310Glu p.K310E ENST00000360127 2/2 58 34 12 30 28 0 C17orf97,missense_variant,p.Lys310Glu,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC141424.1,intron_variant,,ENST00000466740,;AC141424.1,upstream_gene_variant,,ENST00000599026,;AC141424.1,upstream_gene_variant,,ENST00000629249,;C17orf97,upstream_gene_variant,,ENST00000629953,;C17orf97,upstream_gene_variant,,ENST00000575151,; G ENSG00000187624 ENST00000360127 Transcript missense_variant 944/1839 928/1272 310/423 K/E Aag/Gag rs76677042,COSM4408087 1 1 C17orf97 HGNC HGNC:33800 protein_coding YES CCDS32519.2 ENSP00000353245 Q6ZQX7 A0A0H4IV28 UPI0001AE65CA NM_001013672.4 tolerated_low_confidence(1) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR36474 0.0587 0.1241 0.0288 0.0069 0.0288 0.0757 0,1 MODERATE 1 SNV 1 0,1 PASS CAA . . 0.0002226 0.002027 0.000285 6.806e-05 4.149e-05 0.0004647 0.0004262 413771 CDRT15 . GRCh38 chr17 14236764 14236764 + Nonsense_Mutation SNP G G A rs11651890 7316-1775 BS_7NEND0C1 G G c.70C>T p.Arg24Ter p.R24* ENST00000420162 1/3 89 65 19 52 51 1 CDRT15,stop_gained,p.Arg24Ter,ENST00000420162,NM_001007530.1;CDRT15,5_prime_UTR_variant,,ENST00000431716,NM_001348781.1; A ENSG00000223510 ENST00000420162 Transcript stop_gained 86/766 70/567 24/188 R/* Cga/Tga rs11651890,COSM3755266 1 -1 CDRT15 HGNC HGNC:14395 protein_coding YES CCDS32569.1 ENSP00000402355 Q96T59 UPI00000702CA NM_001007530.1 1/3 hmmpanther:PTHR16471,hmmpanther:PTHR16471:SF3,Low_complexity_(Seg):seg 0,1 HIGH 1 SNV 1 0,1 PASS CGG . . 0.03732 0.04495 0.02332 0.02436 0.131 0.03617 0.03084 0.03937 0.03394 14236764 MADCAM1 . GRCh38 chr19 501725 501725 + Missense_Mutation SNP G G A rs62130833 7316-1775 BS_7NEND0C1 G G c.724G>A p.Asp242Asn p.D242N ENST00000215637 4/5 75 40 18 33 26 1 MADCAM1,missense_variant,p.Asp23Asn,ENST00000587541,;MADCAM1,missense_variant,p.Asp242Asn,ENST00000215637,NM_130760.2;MADCAM1,missense_variant,p.Asp266Asn,ENST00000613880,;MADCAM1,missense_variant,p.Asp260Asn,ENST00000617201,;MADCAM1,missense_variant,p.Asp258Asn,ENST00000619333,;MADCAM1,missense_variant,p.Asp250Asn,ENST00000622462,;MADCAM1,missense_variant,p.Asp260Asn,ENST00000621286,;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.1,intron_variant,,ENST00000592413,;MADCAM1,downstream_gene_variant,,ENST00000622449,;,regulatory_region_variant,,ENSR00000286952,; A ENSG00000099866 ENST00000215637 Transcript missense_variant 770/1572 724/1149 242/382 D/N Gac/Aac rs62130833,COSM3766405 1 1 MADCAM1 HGNC HGNC:6765 protein_coding YES CCDS12028.1 ENSP00000215637 Q13477 UPI000013C68F NM_130760.2 tolerated(0.49) benign(0) 4/5 hmmpanther:PTHR14162,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 0.1049 0.06031 0.1254 0.05875 0.08375 0.08361 0.1231 0.09508 0.09457 501725 MADCAM1 . GRCh38 chr19 501767 501767 + Missense_Mutation SNP C C T rs78245161 7316-1775 BS_7NEND0C1 C C c.766C>T p.Pro256Ser p.P256S ENST00000215637 4/5 83 70 9 41 38 0 MADCAM1,missense_variant,p.Pro37Ser,ENST00000587541,;MADCAM1,missense_variant,p.Pro256Ser,ENST00000215637,NM_130760.2;MADCAM1,missense_variant,p.Pro280Ser,ENST00000613880,;MADCAM1,missense_variant,p.Pro274Ser,ENST00000617201,;MADCAM1,missense_variant,p.Pro272Ser,ENST00000619333,;MADCAM1,missense_variant,p.Pro264Ser,ENST00000622462,;MADCAM1,missense_variant,p.Pro274Ser,ENST00000621286,;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.1,intron_variant,,ENST00000592413,;MADCAM1,downstream_gene_variant,,ENST00000622449,;,regulatory_region_variant,,ENSR00000286952,; T ENSG00000099866 ENST00000215637 Transcript missense_variant 812/1572 766/1149 256/382 P/S Cct/Tct rs78245161,COSM1579135 1 1 MADCAM1 HGNC HGNC:6765 protein_coding YES CCDS12028.1 ENSP00000215637 Q13477 UPI000013C68F NM_130760.2 tolerated(0.19) possibly_damaging(0.486) 4/5 hmmpanther:PTHR14162,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 0.00637 0.002193 0.006658 0.003192 0.004676 0.004553 0.008823 0.005984 0.003353 501767 CNKSR2 . GRCh38 chrX 21609560 21609562 + In_Frame_Del DEL GAG GAG - rs778488952 7316-1775 BS_7NEND0C1 GAG GAG c.2655_2657del p.Glu886del p.E886del ENST00000379510 20/22 50 35 6 13 13 0 CNKSR2,inframe_deletion,p.Glu807del,ENST00000645791,;CNKSR2,inframe_deletion,p.Glu579del,ENST00000642501,;CNKSR2,inframe_deletion,p.Glu856del,ENST00000425654,NM_001168647.1;CNKSR2,inframe_deletion,p.Glu886del,ENST00000379510,NM_014927.3;CNKSR2,inframe_deletion,p.Glu837del,ENST00000644585,NM_001330770.1;CNKSR2,inframe_deletion,p.Glu886del,ENST00000642359,NM_001168648.1;CNKSR2,inframe_deletion,p.Glu861del,ENST00000644295,;CNKSR2,inframe_deletion,p.Glu807del,ENST00000645245,;CNKSR2,inframe_deletion,p.Glu856del,ENST00000279451,NM_001330773.1;CNKSR2,inframe_deletion,p.Glu837del,ENST00000543067,NM_001168649.1;CNKSR2,inframe_deletion,p.Glu803del,ENST00000643220,;CNKSR2,inframe_deletion,p.Glu669del,ENST00000645074,;CNKSR2,inframe_deletion,p.Glu604del,ENST00000643313,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000642853,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000646690,;CNKSR2,inframe_deletion,p.Glu837del,ENST00000644095,;CNKSR2,3_prime_UTR_variant,,ENST00000646697,;CNKSR2,3_prime_UTR_variant,,ENST00000643156,;CNKSR2,3_prime_UTR_variant,,ENST00000643171,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000647532,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000644075,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000647058,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000647349,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000645539,; - ENSG00000149970 ENST00000379510 Transcript inframe_deletion 2914-2916/5415 2635-2637/3105 879/1034 E/- GAG/- rs778488952,TMP_ESP_X_21627678_21627683,COSM5082983,COSM1745083 1 1 CNKSR2 HGNC HGNC:19701 protein_coding YES CCDS14198.1 ENSP00000368824 Q8WXI2 UPI0000070D72 NM_014927.3 20/22 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12844:SF21,hmmpanther:PTHR12844 0.03551 0.04641 0,0,1,1 MODERATE 1 deletion 1 20 0,0,1,1 1 PASS AAGAGG . . 0.001981 0.0014 0.001916 0.003035 0.0008415 0.007152 0.001298 0.002602 0.00119 21609559 PRRC2C . GRCh38 chr1 171532758 171532758 + Missense_Mutation SNP T T A novel 7316-2183 BS_601994WV T T c.1664T>A p.Met555Lys p.M555K ENST00000338920 12/34 67 53 6 46 44 1 PRRC2C,missense_variant,p.Met557Lys,ENST00000367742,;PRRC2C,missense_variant,p.Met555Lys,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Met555Lys,ENST00000426496,;PRRC2C,3_prime_UTR_variant,,ENST00000392078,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000476522,; A ENSG00000117523 ENST00000338920 Transcript missense_variant 1901/10355 1664/8454 555/2817 M/K aTg/aAg 1 1 PRRC2C HGNC HGNC:24903 protein_coding YES CCDS1296.2 ENSP00000343629 Q9Y520 UPI0000E265EC NM_015172.3 tolerated_low_confidence(0.05) benign(0.014) 12/34 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14038:SF6,hmmpanther:PTHR14038 MODERATE 1 SNV 5 PASS ATG . . 171532758 IARS2 . GRCh38 chr1 220096097 220096097 + Splice_Region DEL A A - rs202120344 7316-2183 BS_601994WV A A c.268-4del ENST00000366922 64 52 6 38 37 0 IARS2,splice_region_variant,,ENST00000366922,NM_018060.3; - ENSG00000067704 ENST00000366922 Transcript splice_region_variant,intron_variant rs202120344,COSM3997256 1 1 IARS2 HGNC HGNC:29685 protein_coding YES CCDS1523.1 ENSP00000355889 Q9NSE4 UPI000035B256 NM_018060.3 1/22 0.031 0.09319 0,1 LOW 1 deletion 1 3 0,1 1 PASS TTAA . . 0.002775 0.0002874 0.00219 0.006068 0.001262 0.001286 0.002552 0.003178 0.007349 220096096 LANCL1 . GRCh38 chr2 210437784 210437784 + Missense_Mutation SNP T T C rs55953221 7316-2183 BS_601994WV T T c.779A>G p.Asn260Ser p.N260S ENST00000443314 6/9 75 51 22 37 37 0 LANCL1,missense_variant,p.Asn260Ser,ENST00000443314,;LANCL1,missense_variant,p.Asn260Ser,ENST00000450366,NM_006055.2,NM_001136574.1;LANCL1,missense_variant,p.Asn260Ser,ENST00000441020,NM_001136575.1;LANCL1,missense_variant,p.Asn260Ser,ENST00000233714,;LANCL1,missense_variant,p.Asn260Ser,ENST00000431941,;LANCL1,intron_variant,,ENST00000412863,;LANCL1,downstream_gene_variant,,ENST00000448951,;LANCL1-AS1,intron_variant,,ENST00000420418,;LANCL1-AS1,intron_variant,,ENST00000433296,; C ENSG00000115365 ENST00000443314 Transcript missense_variant 1122/4781 779/1200 260/399 N/S aAt/aGt rs55953221 1 -1 LANCL1 HGNC HGNC:6508 protein_coding YES CCDS2392.1 ENSP00000388713 O43813 Q53TN2 UPI0000073D7C deleterious(0) probably_damaging(0.995) 6/9 Gene3D:1.50.10.20,PDB-ENSP_mappings:3e6u.A,PDB-ENSP_mappings:3e6u.B,PDB-ENSP_mappings:3e6u.C,PDB-ENSP_mappings:3e6u.D,PDB-ENSP_mappings:3e73.A,PDB-ENSP_mappings:3e73.B,Pfam_domain:PF05147,Prints_domain:PR01951,hmmpanther:PTHR12736,hmmpanther:PTHR12736:SF5,SMART_domains:SM01260,Superfamily_domains:SSF158745,cd04794 0.0028 0.0098 0.001 0.005674 0.0004651 MODERATE 1 SNV 1 PASS ATT . . 0.0008795 0.006668 0.0004484 0.0002328 0.0002243 0.0007725 0.0007315 210437784 CTNNB1 . GRCh38 chr3 41224634 41224634 + Missense_Mutation SNP C C T rs121913413 7316-2183 BS_601994WV C C c.122C>T p.Thr41Ile p.T41I ENST00000645320 3/15 81 59 20 37 37 0 CTNNB1,missense_variant,p.Thr41Ile,ENST00000645320,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000349496,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000441708,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Thr41Ile,ENST00000433400,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000644524,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000644678,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000642986,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000645900,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000643297,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000643541,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Thr41Ile,ENST00000643031,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000646381,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000642836,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000645493,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000645210,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000642992,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000645276,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000644867,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000644873,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000642886,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000643977,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000647264,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000646174,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000642315,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000643992,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000647390,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000645982,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000644138,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000642248,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000646116,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000646725,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000642426,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000405570,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000646369,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000647413,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; T ENSG00000168036 ENST00000645320 Transcript missense_variant 1965/4735 122/2346 41/781 T/I aCc/aTc rs121913413,COSM5730,COSM5701,COSM5676 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0) probably_damaging(0.955) 3/15 mobidb-lite,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 likely_pathogenic,pathogenic 0,1,1,1 10192393 MODERATE 1 SNV 1,1,1,1 1 PASS ACC . . 41224634 ZNF717 . GRCh38 chr3 75739225 75739226 + Frame_Shift_Ins INS - - TT rs749453662 7316-2183 BS_601994WV - - c.246_247dup p.Thr83LysfsTer5 p.T83Kfs*5 ENST00000478296 4/4 109 72 30 63 53 3 ZNF717,frameshift_variant,p.Thr83LysfsTer5,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; TT ENSG00000227124 ENST00000478296 Transcript frameshift_variant 524-525/3875 247-248/2595 83/864 T/KX aca/aAAca rs749453662 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 4/4 hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,Gene3D:2.20.28.30 0.04355 0.09347 HIGH 1 insertion 5 PASS TGT . . 0.003239 0.0008993 0.0005115 0.0004149 0.002645 0.00616 0.002561 75739225 PIK3CA . GRCh38 chr3 179234297 179234297 + Missense_Mutation SNP A A G rs121913279 7316-2183 BS_601994WV A A c.3140A>G p.His1047Arg p.H1047R ENST00000263967 21/21 83 57 24 43 43 0 PIK3CA,missense_variant,p.His1047Arg,ENST00000263967,NM_006218.3;PIK3CA,3_prime_UTR_variant,,ENST00000643187,;KCNMB3,downstream_gene_variant,,ENST00000485523,NM_171829.2; G ENSG00000121879 ENST00000263967 Transcript missense_variant 3297/9093 3140/3207 1047/1068 H/R cAt/cGt rs121913279,COSM94987,COSM94986,COSM776,COSM775,COSM249874 1 1 PIK3CA HGNC HGNC:8975 protein_coding YES CCDS43171.1 ENSP00000263967 P42336 UPI000013D494 NM_006218.3 tolerated(0.11) benign(0.085) 21/21 Gene3D:1.10.1070.11,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5dxt.A,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5ubr.A,PDB-ENSP_mappings:5uk8.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,PIRSF_domain:PIRSF000587,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF94,SMART_domains:SM00146,Superfamily_domains:SSF56112,cd05175 likely_pathogenic,pathogenic 0,1,1,1,1,1 15520168,15608678,17673550,23946963,15016963,22658544,22729222,26266975,26266985,28163917,25710561,28347348 MODERATE 1 SNV 2 1,1,1,1,1,1 1 PASS CAT . . 4.083e-06 9.04e-06 179234297 REST . GRCh38 chr4 56931723 56931724 + Frame_Shift_Del DEL AA AA - novel 7316-2183 BS_601994WV AA AA c.2865_2866del p.Asn958SerfsTer9 p.N958Sfs*9 ENST00000309042 4/4 80 62 16 40 40 0 REST,frameshift_variant,p.Asn958SerfsTer9,ENST00000309042,NM_005612.4;REST,frameshift_variant,p.Asn958SerfsTer9,ENST00000619101,NM_001193508.1;REST,intron_variant,,ENST00000622863,;REST,intron_variant,,ENST00000640168,;REST,intron_variant,,ENST00000640343,;REST,downstream_gene_variant,,ENST00000611211,;REST,downstream_gene_variant,,ENST00000616975,;REST,downstream_gene_variant,,ENST00000514063,; - ENSG00000084093 ENST00000309042 Transcript frameshift_variant 3179-3180/7300 2865-2866/3294 955-956/1097 TR/TX acAAga/acga 1 1 REST HGNC HGNC:9966 protein_coding YES CCDS3509.1 ENSP00000311816 Q13127 UPI000013FBF6 NM_005612.4 4/4 Gene3D:3.30.160.60,hmmpanther:PTHR45014 HIGH 1 deletion 1 1 PASS ACAAG . . 56931722 AC233724.16 . GRCh38 chr5 17632617 17632617 + Missense_Mutation SNP A A T novel 7316-2183 BS_601994WV A A c.530A>T p.Glu177Val p.E177V ENST00000639073 1/1 83 66 16 39 39 0 AC233724.16,missense_variant,p.Glu177Val,ENST00000639073,;AC233724.12,upstream_gene_variant,,ENST00000512227,;,regulatory_region_variant,,ENSR00000314127,; T ENSG00000283776 ENST00000639073 Transcript missense_variant 530/597 530/597 177/198 E/V gAg/gTg 1 1 AC233724.16 Clone_based_ensembl_gene protein_coding YES ENSP00000491332 A0A1W2PPH5 UPI000041923A deleterious(0) probably_damaging(0.999) 1/1 cd08048,hmmpanther:PTHR13218,hmmpanther:PTHR13218:SF15,Pfam_domain:PF04719,Gene3D:1.10.20.10,Superfamily_domains:SSF47113 MODERATE 1 SNV PASS GAG . . 17632617 PCDHB9 . GRCh38 chr5 141189296 141189296 + Missense_Mutation SNP G G T rs613907 7316-2183 BS_601994WV G G c.1978G>T p.Val660Leu p.V660L ENST00000316105 1/1 85 73 9 33 31 0 PCDHB9,missense_variant,p.Val660Leu,ENST00000316105,NM_019119.4;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;AC244517.6,downstream_gene_variant,,ENST00000623884,;PCDHB9,downstream_gene_variant,,ENST00000624909,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,intron_variant,,ENST00000624549,;AC244517.4,upstream_gene_variant,,ENST00000624089,;AC244517.7,downstream_gene_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;AC244517.6,downstream_gene_variant,,ENST00000623407,;,regulatory_region_variant,,ENSR00000317581,; T ENSG00000177839 ENST00000316105 Transcript missense_variant 2170/4415 1978/2394 660/797 V/L Gtg/Ttg rs613907 1 1 PCDHB9 HGNC HGNC:8694 protein_coding YES CCDS75328.1 ENSP00000478606 Q9Y5E1 UPI00005764A0 NM_019119.4 deleterious_low_confidence(0.03) benign(0.062) 1/1 Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF128,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 MODERATE SNV PASS CGT . . 0.01819 0.1121 0.01426 0.008042 0.001751 0.02064 0.01914 0.01243 0.002302 141189296 HLA-A . GRCh38 chr6 29944252 29944252 + Frame_Shift_Del DEL G G - rs60304108 7316-2183 BS_601994WV G G c.751del p.Asp251ThrfsTer46 p.D251Tfs*46 ENST00000396634 6/10 60 50 7 25 24 0 HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000396634,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376806,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376809,NM_002116.7;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376802,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;AL671277.1,upstream_gene_variant,,ENST00000429656,; - ENSG00000206503 ENST00000396634 Transcript frameshift_variant 1091/1868 750/1098 250/365 Q/X caG/ca rs60304108,COSM5887934,COSM5887933,COSM5000719,COSM451152 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D 6/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,cd07698,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726,PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.4153 0.402 0.2857 0.3757 0.3701 0.3666 0.3685 0,1,1,1,1 HIGH 1 deletion 1 0,1,1,1,1 1 PASS CAGG . . 0.3577 0.3496 0.3496 0.3912 0.2297 0.3699 0.3914 0.3314 0.2963 29944251 KMT2C . GRCh38 chr7 152229936 152229936 + Missense_Mutation SNP C C A rs28522267 7316-2183 BS_601994WV C C c.2963G>T p.Cys988Phe p.C988F ENST00000262189 18/59 148 93 53 50 49 1 KMT2C,missense_variant,p.Cys988Phe,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Cys988Phe,ENST00000355193,;KMT2C,missense_variant,p.Cys144Phe,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,; A ENSG00000055609 ENST00000262189 Transcript missense_variant 3182/16862 2963/14736 988/4911 C/F tGt/tTt rs28522267,COSM150427,COSM150426 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 deleterious(0) probably_damaging(0.998) 18/59 Gene3D:3.30.40.10,PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903,cd15596 benign 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS ACA . . 0.1852 0.1527 0.2309 0.1432 0.2282 0.2877 0.1637 0.2093 0.1179 152229936 SVIL . GRCh38 chr10 29490918 29490918 + Missense_Mutation SNP A A C rs199726033 7316-2183 BS_601994WV A A c.4121T>G p.Leu1374Arg p.L1374R ENST00000355867 22/38 79 67 12 28 27 0 SVIL,missense_variant,p.Leu1342Arg,ENST00000375398,;SVIL,missense_variant,p.Leu1374Arg,ENST00000355867,NM_001323599.1,NM_021738.2;SVIL,missense_variant,p.Leu948Arg,ENST00000375400,NM_001323600.1,NM_003174.3;SVIL,missense_variant,p.Leu300Arg,ENST00000632315,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL-AS1,downstream_gene_variant,,ENST00000413405,;SVIL,upstream_gene_variant,,ENST00000482607,;SVIL,downstream_gene_variant,,ENST00000491872,; C ENSG00000197321 ENST00000355867 Transcript missense_variant 4874/7586 4121/6645 1374/2214 L/R cTc/cGc rs199726033,COSM146919 1 -1 SVIL HGNC HGNC:11480 protein_coding YES CCDS7164.1 ENSP00000348128 O95425 UPI0000366678 NM_001323599.1,NM_021738.2 deleterious(0) possibly_damaging(0.506) 22/38 hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF45 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.1071 0.01054 0.06654 0.2243 0.01734 0.1831 0.1105 0.1149 0.1928 29490918 AGAP9 . GRCh38 chr10 47502579 47502579 + Missense_Mutation SNP C C T rs1283007591 7316-2183 BS_601994WV C C c.1550G>A p.Arg517Gln p.R517Q ENST00000452145 8/8 54 36 18 34 32 1 AGAP9,missense_variant,p.Arg517Gln,ENST00000452145,NM_001190810.1;AL591684.1,downstream_gene_variant,,ENST00000434533,; T ENSG00000204172 ENST00000452145 Transcript missense_variant 1662/2387 1550/1977 517/658 R/Q cGa/cAa rs1283007591,COSM4418068,COSM4418067 1 -1 AGAP9 HGNC HGNC:23463 protein_coding YES CCDS73125.1 ENSP00000392206 Q5VTM2 UPI000019733B NM_001190810.1 deleterious(0) possibly_damaging(0.867) 8/8 Pfam_domain:PF01412,Prints_domain:PR00405,PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF383,SMART_domains:SM00105,Superfamily_domains:SSF57863 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TCG . . 47502579 AGAP12P . GRCh38 chr10 48031373 48031373 + Splice_Region SNP T T C rs782112615 7316-2183 BS_601994WV T T n.224+3A>G ENST00000585227 74 52 19 30 30 0 AGAP12P,splice_region_variant,,ENST00000603888,;AGAP12P,splice_region_variant,,ENST00000585227,; C ENSG00000265018 ENST00000585227 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs782112615 1 -1 AGAP12P HGNC HGNC:23661 transcribed_unprocessed_pseudogene YES 1/7 LOW 1 SNV PASS TTA . . 0.1198 0.0753 0.06525 0.1631 0.02149 0.1479 0.1562 0.1322 0.1117 48031373 AP003066.1 . GRCh38 chr11 96590480 96590480 + Splice_Region SNP C C T rs373888278 7316-2183 BS_601994WV C C n.158+6C>T ENST00000527528 80 70 8 35 35 0 AP003066.1,splice_region_variant,,ENST00000527528,; T ENSG00000254587 ENST00000527528 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs373888278 1 1 AP003066.1 Clone_based_ensembl_gene lincRNA YES 1/3 0.0397 0.0045 0.0605 0.0774 0.0179 0.0562 LOW 1 SNV 1 PASS GCC . . 96590480 ZNF705A . GRCh38 chr12 8175287 8175287 + Missense_Mutation SNP C C T rs201454011 7316-2183 BS_601994WV C C c.199C>T p.Arg67Trp p.R67W ENST00000359286 3/5 100 80 15 63 62 0 ZNF705A,missense_variant,p.Arg67Trp,ENST00000359286,NM_001004328.2;ZNF705A,missense_variant,p.Arg67Trp,ENST00000610508,;ZNF705A,missense_variant,p.Arg67Trp,ENST00000396570,;ZNF705A,upstream_gene_variant,,ENST00000398526,;FAM66C,upstream_gene_variant,,ENST00000454799,;FAM66C,upstream_gene_variant,,ENST00000456135,;FAM66C,upstream_gene_variant,,ENST00000541558,;FAM66C,upstream_gene_variant,,ENST00000544214,;AC092111.3,3_prime_UTR_variant,,ENST00000402465,; T ENSG00000196946 ENST00000359286 Transcript missense_variant 288/3455 199/903 67/300 R/W Cgg/Tgg rs201454011,COSM3733520 1 1 ZNF705A HGNC HGNC:32281 protein_coding YES CCDS31737.1 ENSP00000352233 Q6ZN79 UPI000035E780 NM_001004328.2 deleterious(0) benign(0.061) 3/5 PROSITE_profiles:PS50805,hmmpanther:PTHR24381:SF239,hmmpanther:PTHR24381,SMART_domains:SM00349 0,1 MODERATE SNV 2 0,1 PASS GCG . . 0.006 0.001869 0.01587 0.00218 0.0129 0.002025 0.003352 0.007842 0.004214 8175287 TXNDC16 . GRCh38 chr14 52491013 52491013 + Splice_Region SNP G G A novel 7316-2183 BS_601994WV G G c.757-8C>T ENST00000281741 64 38 9 42 31 0 TXNDC16,splice_region_variant,,ENST00000281741,NM_001160047.1,NM_020784.2;TXNDC16,splice_region_variant,,ENST00000557374,;TXNDC16,intron_variant,,ENST00000554399,; A ENSG00000087301 ENST00000281741 Transcript splice_region_variant,intron_variant 1 -1 TXNDC16 HGNC HGNC:19965 protein_coding YES CCDS32083.1 ENSP00000281741 Q9P2K2 UPI000059D245 NM_001160047.1,NM_020784.2 9/20 LOW 1 SNV 1 PASS TGA . . 52491013 DLGAP5 . GRCh38 chr14 55180785 55180786 + Splice_Region INS - - A rs771548708 7316-2183 BS_601994WV - - c.581-8dup ENST00000247191 70 55 7 43 37 0 DLGAP5,splice_region_variant,,ENST00000247191,NM_014750.4;DLGAP5,splice_region_variant,,ENST00000395425,NM_001146015.1;DLGAP5,splice_region_variant,,ENST00000557645,;DLGAP5,downstream_gene_variant,,ENST00000554067,;,regulatory_region_variant,,ENSR00000068806,; A ENSG00000126787 ENST00000247191 Transcript splice_region_variant,intron_variant rs771548708 1 -1 DLGAP5 HGNC HGNC:16864 protein_coding YES CCDS9723.1 ENSP00000247191 Q15398 UPI000013CC13 NM_014750.4 5/18 LOW 1 insertion 1 PASS GGA . . 0.0001513 0.0001361 0.0001734 0.0004507 0.0001464 0.000115 0.0002074 0.0001461 55180785 IGHJ6 . GRCh38 chr14 105863240 105863241 + In_Frame_Ins INS - - ACC rs74454466 7316-2183 BS_601994WV - - c.18_19insGGT p.Tyr6_Met7insGly p.Y6_M7insG ENST00000390560 1/1 91 81 7 29 28 0 IGHJ6,inframe_insertion,p.Tyr6_Met7insGly,ENST00000390560,;IGHJ2,downstream_gene_variant,,ENST00000390564,;IGHJ1,downstream_gene_variant,,ENST00000390565,;IGHD7-27,downstream_gene_variant,,ENST00000439842,;IGHJ4,downstream_gene_variant,,ENST00000461719,;IGHJ3,downstream_gene_variant,,ENST00000463911,;IGHJ5,downstream_gene_variant,,ENST00000488476,;MIR4538,upstream_gene_variant,,ENST00000581377,;MIR4537,upstream_gene_variant,,ENST00000581717,;IGHJ3P,downstream_gene_variant,,ENST00000436826,;IGHJ1P,downstream_gene_variant,,ENST00000450690,;IGHJ2P,downstream_gene_variant,,ENST00000454480,; ACC ENSG00000211900 ENST00000390560 Transcript inframe_insertion 18-19/61 18-19/61 6-7/20 -/G -/GGT rs74454466 1 -1 IGHJ6 HGNC HGNC:5540 IG_J_gene YES ENSP00000419223 A0A0A0MT91 UPI000173A6A4 1/1 MODERATE 1 insertion PASS ATG . . 105863240 CSPG4 . GRCh38 chr15 75689731 75689731 + Missense_Mutation SNP G G A rs77681934 7316-2183 BS_601994WV G G c.1334C>T p.Ala445Val p.A445V ENST00000308508 3/10 95 78 15 51 50 1 CSPG4,missense_variant,p.Ala445Val,ENST00000308508,NM_001897.4; A ENSG00000173546 ENST00000308508 Transcript missense_variant 1427/8290 1334/6969 445/2322 A/V gCc/gTc rs77681934,COSM131176 1 -1 CSPG4 HGNC HGNC:2466 protein_coding YES CCDS10284.1 ENSP00000312506 Q6UVK1 UPI00001AEEB6 NM_001897.4 tolerated(0.09) benign(0.232) 3/10 hmmpanther:PTHR15036:SF17,hmmpanther:PTHR15036,Pfam_domain:PF16184 0,1 MODERATE 1 SNV 1 0,1 PASS GGC . . 0.04051 0.03015 0.03221 0.04507 0.03552 0.05651 0.04506 0.03512 0.02962 75689731 FAM173A . GRCh38 chr16 722355 722355 + Missense_Mutation SNP C C T rs1405234247 7316-2183 BS_601994WV C C c.506C>T p.Ala169Val p.A169V ENST00000569529 5/5 65 51 13 39 39 0 FAM173A,missense_variant,p.Ala169Val,ENST00000569529,NM_023933.2;FAM173A,missense_variant,p.Ala152Val,ENST00000219535,NM_001271285.1;FAM173A,missense_variant,p.Ala74Val,ENST00000568916,;FAM173A,3_prime_UTR_variant,,ENST00000564000,;METRN,downstream_gene_variant,,ENST00000219542,;CCDC78,downstream_gene_variant,,ENST00000293889,NM_001031737.2;HAGHL,upstream_gene_variant,,ENST00000341413,;CCDC78,downstream_gene_variant,,ENST00000345165,;HAGHL,upstream_gene_variant,,ENST00000389703,NM_032304.3,NM_001323635.1,NM_001290139.1,NM_001290137.1;CCDC78,downstream_gene_variant,,ENST00000423653,;HAGHL,upstream_gene_variant,,ENST00000549114,;HAGHL,upstream_gene_variant,,ENST00000561546,;HAGHL,upstream_gene_variant,,ENST00000562141,NM_001323636.1;HAGHL,upstream_gene_variant,,ENST00000562187,;HAGHL,upstream_gene_variant,,ENST00000564537,;HAGHL,upstream_gene_variant,,ENST00000564545,;METRN,downstream_gene_variant,,ENST00000567076,;HAGHL,upstream_gene_variant,,ENST00000567414,;HAGHL,upstream_gene_variant,,ENST00000568141,;METRN,downstream_gene_variant,,ENST00000568223,NM_024042.3;METRN,downstream_gene_variant,,ENST00000568415,;FAM173A,non_coding_transcript_exon_variant,,ENST00000566525,;FAM173A,non_coding_transcript_exon_variant,,ENST00000566437,;FAM173A,non_coding_transcript_exon_variant,,ENST00000570237,;CCDC78,downstream_gene_variant,,ENST00000439619,;CCDC78,downstream_gene_variant,,ENST00000460023,;CCDC78,downstream_gene_variant,,ENST00000463539,;CCDC78,downstream_gene_variant,,ENST00000466708,;CCDC78,downstream_gene_variant,,ENST00000471861,;CCDC78,downstream_gene_variant,,ENST00000474647,;CCDC78,downstream_gene_variant,,ENST00000478979,;CCDC78,downstream_gene_variant,,ENST00000481804,;CCDC78,downstream_gene_variant,,ENST00000482152,;CCDC78,downstream_gene_variant,,ENST00000482878,;CCDC78,downstream_gene_variant,,ENST00000485091,;CCDC78,downstream_gene_variant,,ENST00000538176,;CCDC78,downstream_gene_variant,,ENST00000544996,;HAGHL,upstream_gene_variant,,ENST00000561750,;FAM173A,downstream_gene_variant,,ENST00000564640,;METRN,downstream_gene_variant,,ENST00000564661,;HAGHL,upstream_gene_variant,,ENST00000567696,;HAGHL,upstream_gene_variant,,ENST00000569143,; T ENSG00000103254 ENST00000569529 Transcript missense_variant 806/1052 506/708 169/235 A/V gCc/gTc rs1405234247 1 1 FAM173A HGNC HGNC:14152 protein_coding YES CCDS10423.1 ENSP00000454380 Q9BQD7 UPI000006E1B7 NM_023933.2 deleterious(0.02) possibly_damaging(0.766) 5/5 Gene3D:3.40.50.150,hmmpanther:PTHR13610,hmmpanther:PTHR13610:SF5 MODERATE 1 SNV 1 PASS GCC . . 8.759e-06 0.0001 722355 USP32 . GRCh38 chr17 60208181 60208181 + Missense_Mutation SNP G G A rs147413172 7316-2183 BS_601994WV G G c.2803C>T p.Arg935Trp p.R935W ENST00000300896 24/34 80 60 20 49 46 2 USP32,missense_variant,p.Arg935Trp,ENST00000300896,NM_032582.3;USP32,missense_variant,p.Arg605Trp,ENST00000592339,;USP32,downstream_gene_variant,,ENST00000590133,;USP32,non_coding_transcript_exon_variant,,ENST00000585720,; A ENSG00000170832 ENST00000300896 Transcript missense_variant 2998/5171 2803/4815 935/1604 R/W Cgg/Tgg rs147413172,COSM226345 1 -1 USP32 HGNC HGNC:19143 protein_coding YES CCDS32697.1 ENSP00000300896 Q8NFA0 UPI0000047AF8 NM_032582.3 deleterious(0) probably_damaging(0.991) 24/34 Gene3D:3.90.70.10,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR44893 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 0.1118 0.03544 0.06033 0.1479 0.01247 0.1237 0.1561 0.1128 0.08792 60208181 LMTK3 . GRCh38 chr19 48498757 48498757 + Missense_Mutation SNP T T G rs958449935 7316-2183 BS_601994WV T T c.2399A>C p.Asp800Ala p.D800A ENST00000270238 12/16 54 38 10 30 26 1 LMTK3,missense_variant,p.Asp771Ala,ENST00000600059,;LMTK3,missense_variant,p.Asp800Ala,ENST00000270238,NM_001080434.1; G ENSG00000142235 ENST00000270238 Transcript missense_variant 2399/4972 2399/4470 800/1489 D/A gAc/gCc rs958449935 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.017) 12/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS GTC . . 48498757 ZNF841 . GRCh38 chr19 52066112 52066112 + Missense_Mutation SNP C C A novel 7316-2183 BS_601994WV C C c.1770G>T p.Met590Ile p.M590I ENST00000594295 6/6 81 74 5 41 39 0 ZNF841,missense_variant,p.Met590Ile,ENST00000594295,NM_001136499.1,NM_001352298.1;ZNF841,missense_variant,p.Met474Ile,ENST00000426391,NM_001321349.1;ZNF841,missense_variant,p.Met590Ile,ENST00000389534,;ZNF841,intron_variant,,ENST00000601738,;ZNF432,upstream_gene_variant,,ENST00000600368,;AC011468.1,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,; A ENSG00000197608 ENST00000594295 Transcript missense_variant 2173/3819 1770/2775 590/924 M/I atG/atT 1 -1 ZNF841 HGNC HGNC:27611 protein_coding YES CCDS46161.1 ENSP00000470746 Q6ZN19 UPI00001D818B NM_001136499.1,NM_001352298.1 tolerated(1) benign(0) 6/6 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF60,hmmpanther:PTHR24376:SF60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE SNV 3 PASS GCA . . 52066112 TARM1 . GRCh38 chr19 54076274 54076274 + Translation_Start_Site SNP A A T rs1394128201 7316-2183 BS_601994WV A A c.2T>A p.Met1? p.M1? ENST00000616041 1/5 89 72 9 46 44 0 TARM1,start_lost,p.Met1?,ENST00000616041,NM_001330650.1;TARM1,intron_variant,,ENST00000432826,NM_001135686.2; T ENSG00000248385 ENST00000616041 Transcript start_lost 272/1218 2/840 1/279 M/K aTg/aAg rs1394128201 1 -1 TARM1 HGNC HGNC:37250 protein_coding YES CCDS82395.1 ENSP00000484383 A0A087X1Q6 UPI000387BDEC NM_001330650.1 benign(0) 1/5 mobidb-lite HIGH 1 SNV 2 PASS CAT . . 54076274 KIR2DL3 . GRCh38 chr19 54742106 54742106 + Missense_Mutation SNP T T A rs78713511 7316-2183 BS_601994WV T T c.197T>A p.Phe66Tyr p.F66Y ENST00000342376 3/8 71 53 16 35 34 1 KIR2DL3,missense_variant,p.Phe66Tyr,ENST00000342376,NM_015868.2;AC245128.1,intron_variant,,ENST00000400864,;,regulatory_region_variant,,ENSR00000111550,; A ENSG00000243772 ENST00000342376 Transcript missense_variant 228/1590 197/1026 66/341 F/Y tTt/tAt rs78713511,COSM5712916,COSM321259 1 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628 E3NZD8 UPI000012DB1C NM_015868.2 tolerated(0.94) benign(0.007) 3/8 Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF124,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05711 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TTT . . 54742106 U2AF2 . GRCh38 chr19 55660508 55660508 + Splice_Region SNP T T C rs767542689 7316-2183 BS_601994WV T T c.231-8T>C ENST00000308924 51 37 8 28 24 1 U2AF2,splice_region_variant,,ENST00000308924,NM_007279.2;U2AF2,splice_region_variant,,ENST00000450554,NM_001012478.1;U2AF2,upstream_gene_variant,,ENST00000590551,;AC008735.2,downstream_gene_variant,,ENST00000585940,;AC008735.2,downstream_gene_variant,,ENST00000589456,;U2AF2,splice_region_variant,,ENST00000587196,;U2AF2,splice_region_variant,,ENST00000588850,;U2AF2,upstream_gene_variant,,ENST00000587275,;U2AF2,downstream_gene_variant,,ENST00000592867,;U2AF2,upstream_gene_variant,,ENST00000592874,; C ENSG00000063244 ENST00000308924 Transcript splice_region_variant,intron_variant rs767542689,COSM4908658 1 1 U2AF2 HGNC HGNC:23156 protein_coding YES CCDS12933.1 ENSP00000307863 P26368 UPI0000137924 NM_007279.2 3/11 0,1 LOW 1 SNV 1 0,1 PASS CTC . . 0.04894 0.009194 0.05538 0.05342 0.02259 0.07941 0.04957 0.06863 0.04577 55660508 EFCAB8 . GRCh38 chr20 32911610 32911610 + Missense_Mutation SNP G G T novel 7316-2183 BS_601994WV G G c.1688G>T p.Arg563Leu p.R563L ENST00000400522 16/27 62 47 14 34 34 0 EFCAB8,missense_variant,p.Arg563Leu,ENST00000400522,NM_001143967.1; T ENSG00000215529 ENST00000400522 Transcript missense_variant 1782/3961 1688/3867 563/1288 R/L cGg/cTg 1 1 EFCAB8 HGNC HGNC:34532 protein_coding YES ENSP00000383366 A0A096LNH2 UPI00018E24E9 NM_001143967.1 deleterious(0.01) probably_damaging(0.962) 16/27 Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR44342,SMART_domains:SM00320,Superfamily_domains:SSF50978 MODERATE 1 SNV 5 PASS CGG . . 32911610 IGLV3-25 . GRCh38 chr22 22687254 22687254 + Missense_Mutation SNP A A T rs199561156 7316-2183 BS_601994WV A A c.320A>T p.Gln107Leu p.Q107L ENST00000390305 2/2 74 66 8 37 36 0 IGLV3-25,missense_variant,p.Gln107Leu,ENST00000390305,;,regulatory_region_variant,,ENSR00000301283,;AC244250.2,upstream_gene_variant,,ENST00000418731,; T ENSG00000211659 ENST00000390305 Transcript missense_variant 363/380 320/337 107/112 Q/L cAa/cTa rs199561156 1 1 IGLV3-25 HGNC HGNC:5908 IG_V_gene YES ENSP00000374840 P01717 UPI0004620D1D tolerated(0.31) benign(0.003) 2/2 MODERATE 1 SNV PASS CAA . . 0.0005433 0.0004881 0.000278 0.0003184 0.001249 0.0002429 0.0007252 0.0003826 0.0001688 22687254 TTC28 . GRCh38 chr22 28679663 28679663 + Nonsense_Mutation SNP G G A rs180764192 7316-2183 BS_601994WV G G c.61C>T p.Arg21Ter p.R21* ENST00000397906 1/23 83 64 13 38 37 0 TTC28,stop_gained,p.Arg21Ter,ENST00000397906,NM_001145418.1;TTC28,non_coding_transcript_exon_variant,,ENST00000468807,;,regulatory_region_variant,,ENSR00000144937,; A ENSG00000100154 ENST00000397906 Transcript stop_gained 203/11795 61/7446 21/2481 R/* Cga/Tga rs180764192,COSM4594211 1 -1 TTC28 HGNC HGNC:29179 protein_coding YES CCDS46678.1 ENSP00000381003 Q96AY4 UPI00003E58F8 NM_001145418.1 1/23 Low_complexity_(Seg):seg,mobidb-lite 0,1 HIGH 1 SNV 1 0,1 PASS CGG . . 0.002603 0.0037 0.002147 0.008403 0.001453 0.002031 0.005571 0.00296 28679663 MSN . GRCh38 chrX 65739837 65739837 + Missense_Mutation SNP C C T rs1417887388 7316-2183 BS_601994WV C C c.1678C>T p.Arg560Cys p.R560C ENST00000360270 13/13 54 34 18 40 39 0 MSN,missense_variant,p.Arg560Cys,ENST00000360270,NM_002444.2; T ENSG00000147065 ENST00000360270 Transcript missense_variant 1850/3944 1678/1734 560/577 R/C Cgc/Tgc rs1417887388,COSM3845195 1 1 MSN HGNC HGNC:7373 protein_coding YES CCDS14382.1 ENSP00000353408 P26038 V9HWC0 UPI000013DA94 NM_002444.2 deleterious(0) probably_damaging(0.999) 13/13 PDB-ENSP_mappings:1ef1.C,PDB-ENSP_mappings:1ef1.D,PIRSF_domain:PIRSF002305,Pfam_domain:PF00769,Superfamily_domains:SSF48678,hmmpanther:PTHR23281:SF26,hmmpanther:PTHR23281,Prints_domain:PR00661 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 65739837 ARMCX4 . GRCh38 chrX 101491206 101491206 + Missense_Mutation SNP T T G rs1256277141 7316-2183 BS_601994WV T T c.2617T>G p.Leu873Val p.L873V ENST00000423738 2/2 81 59 18 44 40 4 ARMCX4,missense_variant,p.Leu873Val,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; G ENSG00000196440 ENST00000423738 Transcript missense_variant 2819/7424 2617/6873 873/2290 L/V Ttg/Gtg rs1256277141 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(1) benign(0) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS TTT . . 101491206 PRAMEF19 . GRCh38 chr1 13369384 13369384 + Missense_Mutation SNP G G A rs780798639 7316-3571 BS_JF2EP1G9 G G c.916C>T p.Arg306Cys p.R306C ENST00000376101 3/3 45 37 8 17 17 0 PRAMEF19,missense_variant,p.Arg306Cys,ENST00000376101,NM_001099790.2; A ENSG00000204480 ENST00000376101 Transcript missense_variant 916/1233 916/1233 306/410 R/C Cgc/Tgc rs780798639 1 -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8 UPI0001661E5E NM_001099790.2 tolerated(0.08) benign(0.005) 3/3 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF76,Superfamily_domains:SSF52047 MODERATE 1 SNV 5 PASS CGG . . 8.137e-06 6.542e-05 8.981e-06 13369384 PRAMEF19 . GRCh38 chr1 13369423 13369423 + Missense_Mutation SNP C C G rs1327551446 7316-3571 BS_JF2EP1G9 C C c.877G>C p.Gly293Arg p.G293R ENST00000376101 3/3 56 46 10 19 19 0 PRAMEF19,missense_variant,p.Gly293Arg,ENST00000376101,NM_001099790.2; G ENSG00000204480 ENST00000376101 Transcript missense_variant 877/1233 877/1233 293/410 G/R Ggg/Cgg rs1327551446 1 -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8 UPI0001661E5E NM_001099790.2 tolerated(0.44) benign(0) 3/3 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF76,Superfamily_domains:SSF52047 MODERATE 1 SNV 5 PASS CCA . . 13369423 SGPP2 . GRCh38 chr2 222424793 222424793 + Missense_Mutation SNP A A C novel 7316-3571 BS_JF2EP1G9 A A c.191A>C p.Asn64Thr p.N64T ENST00000321276 1/5 39 33 6 35 35 0 SGPP2,missense_variant,p.Asn64Thr,ENST00000321276,NM_001320833.1,NM_152386.3,NM_001320834.1;,regulatory_region_variant,,ENSR00000130805,; C ENSG00000163082 ENST00000321276 Transcript missense_variant 277/3336 191/1200 64/399 N/T aAc/aCc 1 1 SGPP2 HGNC HGNC:19953 protein_coding YES CCDS2453.1 ENSP00000315137 Q8IWX5 UPI000004A1E3 NM_001320833.1,NM_152386.3,NM_001320834.1 tolerated(0.14) benign(0.003) 1/5 hmmpanther:PTHR14969:SF14,hmmpanther:PTHR14969,Gene3D:1.20.144.10 MODERATE 1 SNV 1 PASS AAC . . 222424793 GAL3ST2 . GRCh38 chr2 241799079 241799081 + In_Frame_Del DEL TCC TCC - rs770375719 7316-3571 BS_JF2EP1G9 TCC TCC c.57_59del p.Leu20del p.L20del ENST00000192314 2/4 75 62 5 24 23 0 GAL3ST2,inframe_deletion,p.Leu20del,ENST00000192314,NM_022134.2;AC131097.1,downstream_gene_variant,,ENST00000437438,;,regulatory_region_variant,,ENSR00000133333,;,TF_binding_site_variant,,PB0020.1,; - ENSG00000154252 ENST00000192314 Transcript inframe_deletion 175-177/1370 44-46/1197 15-16/398 IL/I aTCCtc/atc rs770375719,COSM1724530 1 1 GAL3ST2 HGNC HGNC:24869 protein_coding YES CCDS33427.1 ENSP00000192314 Q9H3Q3 UPI000049DF44 NM_022134.2 2/4 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14647:SF55,hmmpanther:PTHR14647,Pfam_domain:PF06990 0,1 MODERATE 1 deletion 1 13 0,1 PASS CATCCT . . 1.635e-05 0.0001391 0.0001831 241799078 CACNA2D2 . GRCh38 chr3 50364977 50364977 + Splice_Region SNP A A C novel 7316-3571 BS_JF2EP1G9 A A c.3230-7T>G ENST00000479441 39 28 6 16 16 0 CACNA2D2,splice_acceptor_variant,,ENST00000266039,NM_001005505.2;CACNA2D2,splice_acceptor_variant,,ENST00000360963,NM_001291101.1;CACNA2D2,splice_acceptor_variant,,ENST00000423994,;CACNA2D2,splice_region_variant,,ENST00000424201,NM_006030.3;CACNA2D2,splice_region_variant,,ENST00000429770,;CACNA2D2,splice_region_variant,,ENST00000479441,NM_001174051.2;Z84492.1,intron_variant,,ENST00000606589,;CYB561D2,upstream_gene_variant,,ENST00000606259,;CYB561D2,upstream_gene_variant,,ENST00000606665,;CYB561D2,upstream_gene_variant,,ENST00000607088,;CYB561D2,upstream_gene_variant,,ENST00000607121,;CYB561D2,upstream_gene_variant,,ENST00000607362,;CYB561D2,upstream_gene_variant,,ENST00000607583,;CACNA2D2,non_coding_transcript_exon_variant,,ENST00000483620,;,regulatory_region_variant,,ENSR00000152352,; C ENSG00000007402 ENST00000479441 Transcript splice_region_variant,intron_variant 1 -1 CACNA2D2 HGNC HGNC:1400 protein_coding YES CCDS54588.1 ENSP00000418081 Q9NY47 UPI0000E5A6AF NM_001174051.2 37/38 LOW 1 SNV 1 PASS CAT . . 50364977 DNAJC13 . GRCh38 chr3 132454161 132454161 + Splice_Region DEL T T - rs542534222 7316-3571 BS_JF2EP1G9 T T c.932+16del ENST00000260818 61 40 11 30 29 0 DNAJC13,splice_region_variant,,ENST00000260818,NM_015268.3,NM_001329126.1;DNAJC13,splice_region_variant,,ENST00000486798,;DNAJC13,upstream_gene_variant,,ENST00000471925,; - ENSG00000138246 ENST00000260818 Transcript splice_region_variant,intron_variant rs542534222,TMP_ESP_3_132173005_132173005,COSM1616925 1 1 DNAJC13 HGNC HGNC:30343 protein_coding YES CCDS33857.1 ENSP00000260818 O75165 UPI000022C1FD NM_015268.3,NM_001329126.1 9/55 0.1254 0.1173 0,0,1 LOW 1 deletion 1 12 0,0,1 1 PASS TATT . . 0.2946 0.2034 0.3578 0.4035 0.2754 0.2448 0.2732 0.321 0.3988 132454160 SLC9A9 . GRCh38 chr3 143832224 143832224 + Splice_Region DEL A A - rs537840717 7316-3571 BS_JF2EP1G9 A A c.176-3del ENST00000316549 49 40 6 28 25 0 SLC9A9,splice_region_variant,,ENST00000316549,NM_173653.3;SLC9A9,splice_region_variant,,ENST00000474151,;SLC9A9,intron_variant,,ENST00000474727,; - ENSG00000181804 ENST00000316549 Transcript splice_region_variant,intron_variant rs537840717,TMP_ESP_3_143551066_143551066,COSM5498868 1 -1 SLC9A9 HGNC HGNC:20653 protein_coding YES CCDS33872.1 ENSP00000320246 Q8IVB4 UPI0000074664 NM_173653.3 1/15 0.0032 0.0091 0.001 0.001 0.002 0.01571 0.01309 0,0,1 LOW 1 deletion 1 0,0,1 1 PASS CTAA . . 0.006167 0.002268 0.006619 0.004353 0.005276 0.008208 0.005125 0.003505 0.01247 143832223 CLDN11 . GRCh38 chr3 170419068 170419068 + Translation_Start_Site SNP T T G novel 7316-3571 BS_JF2EP1G9 T T c.2T>G p.Met1? p.M1? ENST00000064724 1/3 33 27 5 32 31 0 CLDN11,start_lost,p.Met1?,ENST00000064724,NM_001185056.1,NM_005602.5;AC026316.5,start_lost,p.Met1?,ENST00000486975,;AC073288.2,downstream_gene_variant,,ENST00000468232,;MIR6828,upstream_gene_variant,,ENST00000636181,;CLDN11,upstream_gene_variant,,ENST00000468358,;AC026316.5,upstream_gene_variant,,ENST00000471373,;CLDN11,upstream_gene_variant,,ENST00000477531,;CLDN11,upstream_gene_variant,,ENST00000489485,;CLDN11,upstream_gene_variant,,ENST00000643053,;CLDN11,non_coding_transcript_exon_variant,,ENST00000486429,; G ENSG00000013297 ENST00000064724 Transcript start_lost 204/2169 2/624 1/207 M/R aTg/aGg 1 1 CLDN11 HGNC HGNC:8514 protein_coding YES CCDS3213.1 ENSP00000064724 O75508 UPI0000127AB4 NM_001185056.1,NM_005602.5 deleterious(0) probably_damaging(0.979) 1/3 hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF6 HIGH 1 SNV 1 PASS ATG . . 170419068 MUC20 . GRCh38 chr3 195726486 195726486 + Missense_Mutation SNP T T C rs150868248 7316-3571 BS_JF2EP1G9 T T c.1883T>C p.Ile628Thr p.I628T ENST00000447234 2/4 51 40 10 31 30 0 MUC20,missense_variant,p.Ile593Thr,ENST00000445522,;MUC20,missense_variant,p.Ile628Thr,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Ile628Thr,ENST00000436408,;MUC20,missense_variant,p.Ile457Thr,ENST00000320736,;MUC20,missense_variant,p.Ile40Thr,ENST00000423938,;MUC20-OT1,intron_variant,,ENST00000594446,;MUC20-OT1,intron_variant,,ENST00000595086,;MUC20-OT1,intron_variant,,ENST00000597662,;MUC20-OT1,intron_variant,,ENST00000600197,;MUC20-OT1,intron_variant,,ENST00000626093,;MUC20-OT1,intron_variant,,ENST00000627035,;MUC20-OT1,intron_variant,,ENST00000627297,;MUC20-OT1,intron_variant,,ENST00000627993,;MUC20-OT1,intron_variant,,ENST00000628125,;MUC20-OT1,intron_variant,,ENST00000628392,;MUC20-OT1,intron_variant,,ENST00000628982,;MUC20-OT1,intron_variant,,ENST00000629537,;MUC20-OT1,intron_variant,,ENST00000629721,;MUC20-OT1,intron_variant,,ENST00000629807,;MUC20-OT1,intron_variant,,ENST00000631359,;MUC20-OT1,downstream_gene_variant,,ENST00000432194,;MUC20-OT1,downstream_gene_variant,,ENST00000455807,;MUC20-OT1,downstream_gene_variant,,ENST00000594976,;MUC20-OT1,downstream_gene_variant,,ENST00000599566,;MUC20-OT1,downstream_gene_variant,,ENST00000600288,;MUC20-OT1,downstream_gene_variant,,ENST00000612098,;MUC20-OT1,downstream_gene_variant,,ENST00000625383,;MUC20-OT1,downstream_gene_variant,,ENST00000625531,;MUC20-OT1,downstream_gene_variant,,ENST00000625665,;MUC20-OT1,downstream_gene_variant,,ENST00000626566,;MUC20-OT1,downstream_gene_variant,,ENST00000626852,;MUC20-OT1,downstream_gene_variant,,ENST00000626872,;MUC20-OT1,downstream_gene_variant,,ENST00000626979,;MUC20-OT1,downstream_gene_variant,,ENST00000627471,;MUC20-OT1,downstream_gene_variant,,ENST00000627609,;MUC20-OT1,downstream_gene_variant,,ENST00000630197,;MUC20-OT1,downstream_gene_variant,,ENST00000630874,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,non_coding_transcript_exon_variant,,ENST00000498018,; C ENSG00000176945 ENST00000447234 Transcript missense_variant 2009/2589 1883/2130 628/709 I/T aTc/aCc rs150868248,COSM5756239,COSM5756238 1 1 MUC20 HGNC HGNC:23282 protein_coding YES CCDS63877.1 ENSP00000414350 Q8N307 UPI000198CC5A NM_001282506.1 tolerated(1) benign(0) 2/4 mobidb-lite,hmmpanther:PTHR37358 0.0587 0.202 0.013 0.0139 0.002 0.002 0.09031 0.0005892 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ATC . . 0.01183 0.1483 0.008847 0.005301 0.0133 0.0008792 0.005313 0.001464 195726486 MAST4 . GRCh38 chr5 66596860 66596860 + Missense_Mutation SNP T T G novel 7316-3571 BS_JF2EP1G9 T T c.205T>G p.Leu69Val p.L69V ENST00000403625 1/29 36 26 8 23 17 0 MAST4,missense_variant,p.Leu69Val,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Leu69Val,ENST00000406374,NM_198828.2;MAST4,missense_variant,p.Leu69Val,ENST00000406039,NM_001290228.1;,regulatory_region_variant,,ENSR00000181667,; G ENSG00000069020 ENST00000403625 Transcript missense_variant 500/10711 205/7872 69/2623 L/V Ttg/Gtg 1 1 MAST4 HGNC HGNC:19037 protein_coding YES CCDS54861.1 ENSP00000385727 O15021 UPI000173A2B0 NM_001164664.1 tolerated_low_confidence(0.11) benign(0) 1/29 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS GTT . . 66596860 HLA-C . GRCh38 chr6 31271800 31271800 + Missense_Mutation SNP A A C rs707911 7316-3571 BS_JF2EP1G9 A A c.142T>G p.Ser48Ala p.S48A ENST00000376228 2/8 37 25 10 17 16 0 HLA-C,missense_variant,p.Ser48Ala,ENST00000383329,;HLA-C,missense_variant,p.Ser48Ala,ENST00000376228,NM_002117.5;HLA-C,missense_variant,p.Ser48Ala,ENST00000415537,;HLA-C,intron_variant,,ENST00000640219,;HLA-B,intron_variant,,ENST00000640615,;HLA-C,missense_variant,p.Ser48Ala,ENST00000376237,;HLA-C,non_coding_transcript_exon_variant,,ENST00000487245,;HLA-C,non_coding_transcript_exon_variant,,ENST00000495835,;HLA-C,non_coding_transcript_exon_variant,,ENST00000484378,;HLA-C,upstream_gene_variant,,ENST00000466892,;HLA-C,upstream_gene_variant,,ENST00000470363,;,regulatory_region_variant,,ENSR00000195522,;USP8P1,upstream_gene_variant,,ENST00000494673,; C ENSG00000204525 ENST00000376228 Transcript missense_variant 157/1536 142/1101 48/366 S/A Tca/Gca rs707911,COSM3745152,COSM3745151,COSM3745150 1 -1 HLA-C HGNC HGNC:4933 protein_coding YES CCDS34393.1 ENSP00000365402 P10321 Q6R739 UPI000008AEBB NM_002117.5 tolerated_low_confidence(1) benign(0.003) 2/8 Gene3D:3.30.500.10,PDB-ENSP_mappings:5vge.A,Pfam_domain:PF00129,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF186,Superfamily_domains:SSF54452 0.705 0.6671 0.6161 0.5934 0.5726 0,1,1,1 MODERATE 1 SNV 0,1,1,1 1 PASS GAG . . 0.593 0.6712 0.637 0.7359 0.5975 0.584 0.554 0.6119 0.6034 31271800 HLA-DQB2 . GRCh38 chr6 32759011 32759011 + Missense_Mutation SNP T T C rs56536369 7316-3571 BS_JF2EP1G9 T T c.485A>G p.Asp162Gly p.D162G ENST00000437316 3/6 54 43 11 27 26 0 HLA-DQB2,missense_variant,p.Asp162Gly,ENST00000435145,;HLA-DQB2,missense_variant,p.Asp162Gly,ENST00000437316,NM_001300790.1;HLA-DQB2,missense_variant,p.Asp162Gly,ENST00000411527,NM_001198858.1;HLA-DQB2,missense_variant,p.Asp161Gly,ENST00000427449,; C ENSG00000232629 ENST00000437316 Transcript missense_variant 549/1214 485/795 162/264 D/G gAc/gGc rs56536369 1 -1 HLA-DQB2 HGNC HGNC:4945 protein_coding YES CCDS78128.1 ENSP00000396330 Q5SR05 UPI00001AF359 NM_001300790.1 tolerated(1) benign(0.106) 3/6 Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF68,SMART_domains:SM00407,Superfamily_domains:SSF48726,cd05766 MODERATE 1 SNV PASS GTC . . 0.002237 0.007457 0.001049 0.001604 0.0008332 0.0005633 0.002733 0.001947 0.00171 32759011 UST . GRCh38 chr6 148747492 148747492 + Missense_Mutation SNP T T G novel 7316-3571 BS_JF2EP1G9 T T c.62T>G p.Met21Arg p.M21R ENST00000367463 1/8 39 32 7 18 18 0 UST,missense_variant,p.Met21Arg,ENST00000367463,NM_005715.2;,regulatory_region_variant,,ENSR00000204906,; G ENSG00000111962 ENST00000367463 Transcript missense_variant 165/4198 62/1221 21/406 M/R aTg/aGg 1 1 UST HGNC HGNC:17223 protein_coding YES CCDS5213.1 ENSP00000356433 Q9Y2C2 UPI000006EF6A NM_005715.2 tolerated_low_confidence(0.11) benign(0) 1/8 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATG . . 148747492 SPATA31A1 . GRCh38 chr9 39359540 39359540 + Missense_Mutation SNP G G C rs1214846252 7316-3571 BS_JF2EP1G9 G G c.1817G>C p.Ser606Thr p.S606T ENST00000377647 4/4 32 26 6 27 27 0 SPATA31A1,missense_variant,p.Ser606Thr,ENST00000377647,NM_001085452.2;SPATA31A1,downstream_gene_variant,,ENST00000473440,;BX005214.3,downstream_gene_variant,,ENST00000615174,;,regulatory_region_variant,,ENSR00000235033,; C ENSG00000204849 ENST00000377647 Transcript missense_variant 1837/4256 1817/4086 606/1361 S/T aGt/aCt rs1214846252 1 1 SPATA31A1 HGNC HGNC:23394 protein_coding YES CCDS43808.2 ENSP00000366875 A0A0R4J2F1 UPI0001AE6DFD NM_001085452.2 deleterious(0.01) possibly_damaging(0.878) 4/4 hmmpanther:PTHR21859:SF38,hmmpanther:PTHR21859,Pfam_domain:PF14650 MODERATE 1 SNV 1 PASS AGT . . 39359540 SAA2 . GRCh38 chr11 18245916 18245916 + Missense_Mutation SNP A A G rs71469388 7316-3571 BS_JF2EP1G9 A A c.224T>C p.Val75Ala p.V75A ENST00000526900 3/4 57 50 6 44 44 0 SAA2,missense_variant,p.Val75Ala,ENST00000414546,NM_001127380.2;SAA2,missense_variant,p.Val75Ala,ENST00000528349,;SAA2-SAA4,missense_variant,p.Val75Ala,ENST00000524555,NM_001199744.1;SAA2,missense_variant,p.Val75Ala,ENST00000526900,;SAA2,missense_variant,p.Val75Ala,ENST00000529528,;SAA2,missense_variant,p.Val75Ala,ENST00000256733,NM_030754.4;SAA2,missense_variant,p.Val75Ala,ENST00000530400,;RNA5SP333,downstream_gene_variant,,ENST00000363466,; G ENSG00000134339 ENST00000526900 Transcript missense_variant 408/687 224/369 75/122 V/A gTg/gCg rs71469388,COSM4145612 1 -1 SAA2 HGNC HGNC:10514 protein_coding YES CCDS7833.1 ENSP00000436126 P0DJI9 UPI000016A553 deleterious(0.01) benign(0.036) 3/4 hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PIRSF_domain:PIRSF002472,Pfam_domain:PF00277,SMART_domains:SM00197,Prints_domain:PR00306 0,1 MODERATE 1 SNV 2 0,1 PASS CAC . . 0.3202 0.2165 0.2666 0.2365 0.2941 0.4246 0.3528 0.2903 0.2712 18245916 SAA2 . GRCh38 chr11 18245931 18245931 + Missense_Mutation SNP G G A rs79620496 7316-3571 BS_JF2EP1G9 G G c.209C>T p.Ala70Val p.A70V ENST00000526900 3/4 64 55 7 41 41 0 SAA2,missense_variant,p.Ala70Val,ENST00000414546,NM_001127380.2;SAA2,missense_variant,p.Ala70Val,ENST00000528349,;SAA2-SAA4,missense_variant,p.Ala70Val,ENST00000524555,NM_001199744.1;SAA2,missense_variant,p.Ala70Val,ENST00000526900,;SAA2,missense_variant,p.Ala70Val,ENST00000529528,;SAA2,missense_variant,p.Ala70Val,ENST00000256733,NM_030754.4;SAA2,missense_variant,p.Ala70Val,ENST00000530400,;RNA5SP333,downstream_gene_variant,,ENST00000363466,; A ENSG00000134339 ENST00000526900 Transcript missense_variant 393/687 209/369 70/122 A/V gCc/gTc rs79620496,COSM304951 1 -1 SAA2 HGNC HGNC:10514 protein_coding YES CCDS7833.1 ENSP00000436126 P0DJI9 UPI000016A553 tolerated(0.53) benign(0.003) 3/4 hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PROSITE_patterns:PS00992,PIRSF_domain:PIRSF002472,Pfam_domain:PF00277,SMART_domains:SM00197,Prints_domain:PR00306 0,1 MODERATE 1 SNV 2 0,1 PASS GGC . . 0.253 0.1924 0.1953 0.1803 0.09288 0.3457 0.3184 0.2376 0.1726 18245931 FAM168A . GRCh38 chr11 73409496 73409496 + Missense_Mutation SNP T T G novel 7316-3571 BS_JF2EP1G9 T T c.613A>C p.Met205Leu p.M205L ENST00000064778 7/9 48 40 8 33 32 1 FAM168A,missense_variant,p.Met205Leu,ENST00000064778,NM_001286050.1;FAM168A,missense_variant,p.Met196Leu,ENST00000356467,NM_015159.2;FAM168A,intron_variant,,ENST00000450446,NM_001286051.1;AP000763.3,intron_variant,,ENST00000536855,;AP000763.3,intron_variant,,ENST00000542598,;FAM168A,downstream_gene_variant,,ENST00000632101,; G ENSG00000054965 ENST00000064778 Transcript missense_variant 898/7296 613/735 205/244 M/L Atg/Ctg 1 -1 FAM168A HGNC HGNC:28999 protein_coding YES CCDS73346.1 ENSP00000064778 Q92567 UPI00000EB998 NM_001286050.1 tolerated(0.05) possibly_damaging(0.455) 7/9 Pfam_domain:PF14944,hmmpanther:PTHR31844,hmmpanther:PTHR31844:SF1,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATT . . 73409496 INTS4 . GRCh38 chr11 77903544 77903544 + Missense_Mutation SNP T T G rs758187706 7316-3571 BS_JF2EP1G9 T T c.2093A>C p.Lys698Thr p.K698T ENST00000534064 17/23 64 53 10 17 17 0 INTS4,missense_variant,p.Lys698Thr,ENST00000534064,NM_033547.3;INTS4,missense_variant,p.Lys73Thr,ENST00000535943,;AAMDC,intron_variant,,ENST00000532481,;AAMDC,downstream_gene_variant,,ENST00000304716,NM_001316957.1;AAMDC,downstream_gene_variant,,ENST00000527134,NM_001316958.1;AAMDC,downstream_gene_variant,,ENST00000630098,;INTS4,intron_variant,,ENST00000525268,;INTS4,3_prime_UTR_variant,,ENST00000433818,;INTS4,non_coding_transcript_exon_variant,,ENST00000533180,;AAMDC,downstream_gene_variant,,ENST00000526164,;AAMDC,downstream_gene_variant,,ENST00000529666,; G ENSG00000149262 ENST00000534064 Transcript missense_variant 2128/3156 2093/2892 698/963 K/T aAa/aCa rs758187706,COSM6236089 1 -1 INTS4 HGNC HGNC:25048 protein_coding YES CCDS31644.1 ENSP00000434466 Q96HW7 UPI00001FB00A NM_033547.3 tolerated(0.25) benign(0.077) 17/23 hmmpanther:PTHR20938,Gene3D:1.25.10.10 0,1 MODERATE 1 SNV 1 0,1 PASS TTT . . 2.875e-05 0.0001984 6.105e-05 1.806e-05 77903544 KDM4F . GRCh38 chr11 95049759 95049759 + Missense_Mutation SNP A A G rs28412010 7316-3571 BS_JF2EP1G9 A A c.338A>G p.Gln113Arg p.Q113R ENST00000545950 1/1 66 54 11 26 26 0 KDM4F,missense_variant,p.Gln113Arg,ENST00000545950,; G ENSG00000255855 ENST00000545950 Transcript missense_variant 338/1917 338/1917 113/638 Q/R cAg/cGg rs28412010 1 1 KDM4F HGNC HGNC:52413 protein_coding YES ENSP00000491279 A0A1W2PPD8 UPI000166258F tolerated(0.62) benign(0) 1/1 Gene3D:2.60.120.650,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF34,Superfamily_domains:SSF51197 MODERATE 1 SNV PASS CAG . . 95049759 FDX1 . GRCh38 chr11 110430239 110430239 + Missense_Mutation SNP A A C novel 7316-3571 BS_JF2EP1G9 A A c.119A>C p.Asn40Thr p.N40T ENST00000260270 1/4 52 43 7 24 22 2 FDX1,missense_variant,p.Asn40Thr,ENST00000260270,NM_004109.4;,regulatory_region_variant,,ENSR00000044710,; C ENSG00000137714 ENST00000260270 Transcript missense_variant 357/3206 119/555 40/184 N/T aAc/aCc 1 1 FDX1 HGNC HGNC:3638 protein_coding YES CCDS8344.1 ENSP00000260270 P10109 UPI0000125630 NM_004109.4 tolerated(0.65) benign(0) 1/4 hmmpanther:PTHR23426,hmmpanther:PTHR23426:SF26,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 110430239 TAS2R30 . GRCh38 chr12 11134198 11134198 + Missense_Mutation SNP A A G rs745610566 7316-3571 BS_JF2EP1G9 A A c.47T>C p.Ile16Thr p.I16T ENST00000539585 1/1 55 44 9 35 33 0 TAS2R30,missense_variant,p.Ile16Thr,ENST00000539585,NM_001097643.1;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541175,;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,;,regulatory_region_variant,,ENSR00000048763,; G ENSG00000256188 ENST00000539585 Transcript missense_variant 447/1687 47/960 16/319 I/T aTa/aCa rs745610566,COSM1948731 1 -1 TAS2R30 HGNC HGNC:19112 protein_coding YES CCDS53750.1 ENSP00000444736 P59541 UPI000006202F NM_001097643.1 tolerated(0.27) benign(0) 1/1 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,cd15027,hmmpanther:PTHR11394:SF48,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS TAT . . 3.275e-05 6.594e-05 2.992e-05 2.718e-05 0.0001837 6.514e-05 11134198 TAS2R30 . GRCh38 chr12 11134208 11134208 + Missense_Mutation SNP T T C rs113282241 7316-3571 BS_JF2EP1G9 T T c.37A>G p.Ile13Val p.I13V ENST00000539585 1/1 59 48 9 38 37 0 TAS2R30,missense_variant,p.Ile13Val,ENST00000539585,NM_001097643.1;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541175,;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000256188 ENST00000539585 Transcript missense_variant 437/1687 37/960 13/319 I/V Ata/Gta rs113282241,COSM4203354,COSM4203353 1 -1 TAS2R30 HGNC HGNC:19112 protein_coding YES CCDS53750.1 ENSP00000444736 P59541 UPI000006202F NM_001097643.1 tolerated(1) benign(0) 1/1 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,cd15027,hmmpanther:PTHR11394:SF48,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1,1 MODERATE SNV 0,1,1 PASS ATT . . 1.238e-05 4.536e-05 1.829e-05 11134208 IKZF4 . GRCh38 chr12 56035027 56035027 + Missense_Mutation SNP T T G novel 7316-3571 BS_JF2EP1G9 T T c.1454T>G p.Ile485Ser p.I485S ENST00000262032 12/12 51 41 9 26 24 1 IKZF4,missense_variant,p.Ile485Ser,ENST00000262032,NM_001351089.1;IKZF4,missense_variant,p.Ile485Ser,ENST00000431367,NM_001351091.1,NM_001351089.1;IKZF4,missense_variant,p.Ile485Ser,ENST00000547167,NM_022465.3;IKZF4,missense_variant,p.Ile440Ser,ENST00000547791,;AC034102.3,intron_variant,,ENST00000551846,;IKZF4,downstream_gene_variant,,ENST00000548601,;IKZF4,3_prime_UTR_variant,,ENST00000551103,;IKZF4,non_coding_transcript_exon_variant,,ENST00000551124,;IKZF4,downstream_gene_variant,,ENST00000547556,; G ENSG00000123411 ENST00000262032 Transcript missense_variant 1821/5229 1454/1758 485/585 I/S aTt/aGt 1 1 IKZF4 HGNC HGNC:13179 protein_coding YES CCDS44917.1 ENSP00000262032 Q9H2S9 UPI000022946D NM_001351089.1 tolerated(0.21) benign(0) 12/12 mobidb-lite,hmmpanther:PTHR24404:SF28,hmmpanther:PTHR24404,Gene3D:3.30.40.10 MODERATE SNV 5 PASS ATT . . 56035027 MED4 . GRCh38 chr13 48090420 48090421 + Splice_Region INS - - A rs769110681 7316-3571 BS_JF2EP1G9 - - c.126-3dup ENST00000258648 60 42 12 37 33 0 MED4,splice_region_variant,,ENST00000258648,NM_014166.3;MED4,splice_region_variant,,ENST00000378586,NM_001270629.1;MED4,splice_region_variant,,ENST00000417167,; A ENSG00000136146 ENST00000258648 Transcript splice_region_variant,intron_variant rs769110681,TMP_ESP_13_48664557_48664558 1 -1 MED4 HGNC HGNC:17903 protein_coding YES CCDS9408.1 ENSP00000258648 Q9NPJ6 A0A024RDY7 UPI0000129871 NM_014166.3 1/6 0.05054 0.03223 LOW 1 insertion 1 PASS CTA . . 0.1631 0.1319 0.185 0.2854 0.1331 0.1312 0.1519 0.1887 0.1978 48090420 ITPK1 . GRCh38 chr14 93115066 93115066 + Splice_Region SNP T T G novel 7316-3571 BS_JF2EP1G9 T T c.95+3A>C ENST00000267615 40 30 10 27 26 1 ITPK1,splice_region_variant,,ENST00000267615,;ITPK1,splice_region_variant,,ENST00000354313,NM_001142594.1;ITPK1,splice_region_variant,,ENST00000553452,;ITPK1,splice_region_variant,,ENST00000554999,;ITPK1,splice_region_variant,,ENST00000555495,;ITPK1,splice_region_variant,,ENST00000555553,;ITPK1,splice_region_variant,,ENST00000556603,NM_001142593.1,NM_014216.4;ITPK1,splice_region_variant,,ENST00000557309,;,regulatory_region_variant,,ENSR00000275826,; G ENSG00000100605 ENST00000267615 Transcript splice_region_variant,intron_variant 1 -1 ITPK1 HGNC HGNC:6177 protein_coding YES CCDS9907.1 ENSP00000267615 Q13572 A0A024R6H3 UPI000006F88A 2/10 LOW 1 SNV 1 PASS TTA . . 93115066 PKD1 . GRCh38 chr16 2118187 2118187 + Missense_Mutation SNP A A C novel 7316-3571 BS_JF2EP1G9 A A c.805T>G p.Phe269Val p.F269V ENST00000262304 5/46 34 22 8 28 25 0 PKD1,missense_variant,p.Phe269Val,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Phe269Val,ENST00000423118,NM_000296.3;PKD1,upstream_gene_variant,,ENST00000488185,;AC009065.3,upstream_gene_variant,,ENST00000562027,;AC009065.6,downstream_gene_variant,,ENST00000568795,;PKD1,upstream_gene_variant,,ENST00000468674,;PKD1,upstream_gene_variant,,ENST00000570150,;PKD1,upstream_gene_variant,,ENST00000483731,;PKD1,upstream_gene_variant,,ENST00000565639,;PKD1,upstream_gene_variant,,ENST00000568591,;,regulatory_region_variant,,ENSR00000082439,; C ENSG00000008710 ENST00000262304 Transcript missense_variant 1014/14138 805/12912 269/4303 F/V Ttc/Gtc 1 -1 PKD1 HGNC HGNC:9008 protein_coding YES CCDS32369.1 ENSP00000262304 P98161 UPI00001B0454 NM_001009944.2 deleterious(0) benign(0.145) 5/46 PROSITE_profiles:PS51212,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF175,SMART_domains:SM00321,Superfamily_domains:SSF49299,TIGRFAM_domain:TIGR00864 MODERATE 1 SNV 1 1 PASS AAG . . 2118187 SOX9 . GRCh38 chr17 72123584 72123584 + Missense_Mutation SNP A A C novel 7316-3571 BS_JF2EP1G9 A A c.727A>C p.Thr243Pro p.T243P ENST00000245479 3/3 34 25 7 24 23 1 SOX9,missense_variant,p.Thr243Pro,ENST00000245479,NM_000346.3;SOX9,missense_variant,p.Thr243Pro,ENST00000645356,;SOX9-AS1,intron_variant,,ENST00000414600,;SOX9-AS1,intron_variant,,ENST00000628742,;SOX9-AS1,upstream_gene_variant,,ENST00000440093,;SOX9-AS1,upstream_gene_variant,,ENST00000529667,;SOX9-AS1,upstream_gene_variant,,ENST00000533179,;SOX9-AS1,upstream_gene_variant,,ENST00000533232,; C ENSG00000125398 ENST00000245479 Transcript missense_variant 1099/3935 727/1530 243/509 T/P Acc/Ccc 1 1 SOX9 HGNC HGNC:11204 protein_coding YES CCDS11689.1 ENSP00000245479 P48436 UPI00000009D8 NM_000346.3 deleterious(0.01) probably_damaging(0.915) 3/3 mobidb-lite,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212 MODERATE 1 SNV 1 1 PASS AAC . . 72123584 TUBB8P12 . GRCh38 chr18 47722 47722 + Missense_Mutation SNP C C T rs1412165277 7316-3571 BS_JF2EP1G9 C C c.1003G>A p.Asp335Asn p.D335N ENST00000308911 4/4 67 56 9 24 23 0 TUBB8P12,missense_variant,p.Asp335Asn,ENST00000308911,;AP001005.3,downstream_gene_variant,,ENST00000572530,;AP001005.3,downstream_gene_variant,,ENST00000575325,;TUBB8P12,downstream_gene_variant,,ENST00000594555,;AP001005.1,downstream_gene_variant,,ENST00000575066,; T ENSG00000173213 ENST00000308911 Transcript missense_variant 1003/1335 1003/1335 335/444 D/N Gat/Aat rs1412165277 1 -1 TUBB8P12 HGNC HGNC:24983 protein_coding YES ENSP00000496713 A6NNZ2 UPI000049DE76 tolerated_low_confidence(1) benign(0.001) 4/4 cd02187,hmmpanther:PTHR11588:SF256,hmmpanther:PTHR11588,Gene3D:3.30.1330.20,Pfam_domain:PF03953,Superfamily_domains:SSF55307,SMART_domains:SM00865,Prints_domain:PR01163 MODERATE SNV PASS TCT . . 4.08e-06 2.978e-05 47722 ZNF681 . GRCh38 chr19 23743770 23743770 + Nonsense_Mutation SNP T T A 7316-3571 BS_JF2EP1G9 T T c.1780A>T p.Lys594Ter p.K594* ENST00000402377 4/4 48 34 6 34 32 1 ZNF681,stop_gained,p.Lys594Ter,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; A ENSG00000196172 ENST00000402377 Transcript stop_gained 1922/6497 1780/1938 594/645 K/* Aaa/Taa COSM6237827,COSM6237826 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1,1 HIGH 1 SNV 1 1,1 PASS TTT . . 23743770 CCER2 . GRCh38 chr19 38912158 38912158 + Translation_Start_Site SNP T T G novel 7316-3571 BS_JF2EP1G9 T T c.1A>C p.Met1? p.M1? ENST00000571838 1/5 52 42 9 31 30 0 CCER2,start_lost,p.Met1?,ENST00000571838,NM_001243212.1;SARS2,downstream_gene_variant,,ENST00000221431,NM_017827.3;NFKBIB,downstream_gene_variant,,ENST00000313582,NM_002503.4;NFKBIB,downstream_gene_variant,,ENST00000392079,NM_001243116.1;SARS2,downstream_gene_variant,,ENST00000430193,;CCER2,upstream_gene_variant,,ENST00000571845,;NFKBIB,downstream_gene_variant,,ENST00000572515,;NFKBIB,downstream_gene_variant,,ENST00000575359,;NFKBIB,downstream_gene_variant,,ENST00000576510,;SARS2,downstream_gene_variant,,ENST00000594171,;SARS2,downstream_gene_variant,,ENST00000598831,;AC011455.2,downstream_gene_variant,,ENST00000599996,;SARS2,downstream_gene_variant,,ENST00000600042,NM_001145901.1;NFKBIB,downstream_gene_variant,,ENST00000509705,;SARS2,downstream_gene_variant,,ENST00000594259,;SARS2,downstream_gene_variant,,ENST00000597490,;,regulatory_region_variant,,ENSR00000109347,; G ENSG00000262484 ENST00000571838 Transcript start_lost 1/1057 1/801 1/266 M/L Atg/Ctg 1 -1 CCER2 HGNC HGNC:44662 protein_coding YES CCDS58661.1 ENSP00000460665 I3L3R5 UPI00021B8EC6 NM_001243212.1 deleterious_low_confidence(0) benign(0.019) 1/5 Cleavage_site_(Signalp):SignalP-noTM HIGH SNV 5 PASS ATG . . 38912158 MAPK8IP2 . GRCh38 chr22 50603925 50603925 + Missense_Mutation SNP A A C 7316-3571 BS_JF2EP1G9 A A c.626A>C p.Asn209Thr p.N209T ENST00000329492 5/12 36 25 9 27 26 0 MAPK8IP2,missense_variant,p.Asn209Thr,ENST00000329492,NM_012324.4;CHKB,upstream_gene_variant,,ENST00000463053,;MAPK8IP2,non_coding_transcript_exon_variant,,ENST00000008876,; C ENSG00000008735 ENST00000329492 Transcript missense_variant 760/3381 626/2475 209/824 N/T aAc/aCc COSM4629173,COSM4629172 1 1 MAPK8IP2 HGNC HGNC:6883 protein_coding YES CCDS74886.1 ENSP00000330572 Q13387 UPI000012DAB7 NM_012324.4 deleterious_low_confidence(0.03) benign(0.039) 5/12 mobidb-lite 1,1 MODERATE 1 SNV 1 1,1 PASS AAC . . 50603925 MT-ND2 . GRCh38 chrM 4959 4959 + Missense_Mutation SNP G G A novel 7316-3571 BS_JF2EP1G9 G G c.490G>A p.Ala164Thr p.A164T ENST00000361453 1/1 12469 11899 303 5564 5464 0 MT-ND2,missense_variant,p.Ala164Thr,ENST00000361453,;MT-ND1,downstream_gene_variant,,ENST00000361390,;MT-CO1,upstream_gene_variant,,ENST00000361624,;MT-CO2,upstream_gene_variant,,ENST00000361739,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-CO3,upstream_gene_variant,,ENST00000362079,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-TF,downstream_gene_variant,,ENST00000387314,;MT-TV,downstream_gene_variant,,ENST00000387342,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,downstream_gene_variant,,ENST00000387365,;MT-TQ,upstream_gene_variant,,ENST00000387372,;MT-TM,downstream_gene_variant,,ENST00000387377,;MT-TW,upstream_gene_variant,,ENST00000387382,;MT-TA,downstream_gene_variant,,ENST00000387392,;MT-TN,downstream_gene_variant,,ENST00000387400,;MT-TC,downstream_gene_variant,,ENST00000387405,;MT-TY,downstream_gene_variant,,ENST00000387409,;MT-TS1,downstream_gene_variant,,ENST00000387416,;MT-TD,upstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-RNR1,downstream_gene_variant,,ENST00000389680,; A ENSG00000198763 ENST00000361453 Transcript missense_variant 490/1042 490/1042 164/347 A/T Gca/Aca 1 1 MT-ND2 HGNC HGNC:7456 protein_coding YES ENSP00000355046 P03891 Q7GXY9 UPI0000000AA2 tolerated(0.07) benign(0.027) 1/1 PDB-ENSP_mappings:5xtc.i,PDB-ENSP_mappings:5xtd.i,Transmembrane_helices:TMhelix,hmmpanther:PTHR22773,hmmpanther:PTHR22773:SF41,Pfam_domain:PF00361,Prints_domain:PR01436 MODERATE 1 SNV 1 PASS AGC . . 4959 MEGF6 . GRCh38 chr1 3497044 3497044 + Missense_Mutation SNP G G A 7316-3316 BS_0P2FRMSA G G c.3557C>T p.Pro1186Leu p.P1186L ENST00000356575 28/37 126 114 8 54 54 0 MEGF6,missense_variant,p.Pro1186Leu,ENST00000356575,NM_001409.3;MEGF6,intron_variant,,ENST00000294599,;MEGF6,upstream_gene_variant,,ENST00000491842,;MEGF6,synonymous_variant,p.Leu1237=,ENST00000485002,;MEGF6,upstream_gene_variant,,ENST00000461795,;MEGF6,upstream_gene_variant,,ENST00000475790,;MEGF6,upstream_gene_variant,,ENST00000494257,; A ENSG00000162591 ENST00000356575 Transcript missense_variant 3784/5455 3557/4626 1186/1541 P/L cCt/cTt COSM4489966 1 -1 MEGF6 HGNC HGNC:3232 protein_coding YES CCDS41237.1 ENSP00000348982 O75095 UPI0000DACACB NM_001409.3 deleterious(0) probably_damaging(0.982) 28/37 Gene3D:2.10.25.10,Pfam_domain:PF00053,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF106,SMART_domains:SM00180,SMART_domains:SM00181 1 MODERATE 1 SNV 1 1 PASS AGG . . 3497044 PIK3CD . GRCh38 chr1 9724279 9724279 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.2722T>G p.Phe908Val p.F908V ENST00000377346 22/24 122 99 19 32 29 3 PIK3CD,missense_variant,p.Phe932Val,ENST00000536656,;PIK3CD,missense_variant,p.Phe932Val,ENST00000628140,;PIK3CD,missense_variant,p.Phe908Val,ENST00000377346,NM_005026.3,NM_001350234.1;PIK3CD,missense_variant,p.Phe932Val,ENST00000361110,;PIK3CD,missense_variant,p.Phe932Val,ENST00000543390,;CLSTN1,downstream_gene_variant,,ENST00000361311,NM_014944.4;CLSTN1,downstream_gene_variant,,ENST00000377298,NM_001009566.2,NM_001302883.1;CLSTN1,downstream_gene_variant,,ENST00000435891,;CLSTN1,downstream_gene_variant,,ENST00000477264,; G ENSG00000171608 ENST00000377346 Transcript missense_variant 2917/5203 2722/3135 908/1044 F/V Ttc/Gtc 1 1 PIK3CD HGNC HGNC:8977 protein_coding YES CCDS104.1 ENSP00000366563 O00329 A0A2K8FKV1 UPI000013E807 NM_005026.3,NM_001350234.1 deleterious(0) probably_damaging(0.995) 22/24 PROSITE_profiles:PS50290,cd05174,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,Pfam_domain:PF00454,PIRSF_domain:PIRSF000587,SMART_domains:SM00146,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 1 PASS GTT . . 9724279 DMRTB1 . GRCh38 chr1 53459863 53459863 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.410T>G p.Val137Gly p.V137G ENST00000371445 1/4 118 98 14 35 33 1 DMRTB1,missense_variant,p.Val137Gly,ENST00000371445,NM_033067.2;DMRTB1,upstream_gene_variant,,ENST00000463126,; G ENSG00000143006 ENST00000371445 Transcript missense_variant 465/1910 410/1029 137/342 V/G gTt/gGt 1 1 DMRTB1 HGNC HGNC:13913 protein_coding YES CCDS581.1 ENSP00000360500 Q96MA1 UPI000006FF4C NM_033067.2 tolerated(0.31) benign(0.007) 1/4 hmmpanther:PTHR12322:SF66,hmmpanther:PTHR12322 MODERATE 1 SNV 1 PASS GTT . . 53459863 KIAA1614 . GRCh38 chr1 180913245 180913245 + Translation_Start_Site SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.2T>G p.Met1? p.M1? ENST00000367588 1/9 97 83 9 34 32 1 KIAA1614,start_lost,p.Met1?,ENST00000367588,NM_020950.1;AL162431.1,downstream_gene_variant,,ENST00000422858,;AL162431.1,downstream_gene_variant,,ENST00000434447,;KIAA1614,non_coding_transcript_exon_variant,,ENST00000496210,;,regulatory_region_variant,,ENSR00000016585,; G ENSG00000135835 ENST00000367588 Transcript start_lost 57/9654 2/3573 1/1190 M/R aTg/aGg 1 1 KIAA1614 HGNC HGNC:29327 protein_coding YES CCDS41442.1 ENSP00000356560 Q5VZ46 UPI00001C1D75 NM_020950.1 deleterious_low_confidence(0) possibly_damaging(0.81) 1/9 mobidb-lite,hmmpanther:PTHR45150 HIGH 1 SNV 1 PASS ATG . . 180913245 ATRAID . GRCh38 chr2 27212236 27212236 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.33A>C p.Glu11Asp p.E11D ENST00000611786 1/7 138 122 10 59 56 1 ATRAID,missense_variant,p.Glu11Asp,ENST00000611786,NM_080592.3;ATRAID,missense_variant,p.Glu11Asp,ENST00000380171,;SLC5A6,5_prime_UTR_variant,,ENST00000310574,NM_021095.2;SLC5A6,5_prime_UTR_variant,,ENST00000414408,;SLC5A6,intron_variant,,ENST00000428518,;SLC5A6,intron_variant,,ENST00000430186,;SLC5A6,intron_variant,,ENST00000432106,;SLC5A6,intron_variant,,ENST00000442731,;SLC5A6,upstream_gene_variant,,ENST00000401463,;ATRAID,upstream_gene_variant,,ENST00000405489,NM_016085.4;SLC5A6,upstream_gene_variant,,ENST00000408041,;SLC5A6,upstream_gene_variant,,ENST00000412471,;ATRAID,upstream_gene_variant,,ENST00000419744,;SLC5A6,upstream_gene_variant,,ENST00000426119,;ATRAID,upstream_gene_variant,,ENST00000606999,NM_001170795.1;ATRAID,non_coding_transcript_exon_variant,,ENST00000484646,;SLC5A6,upstream_gene_variant,,ENST00000445802,;ATRAID,upstream_gene_variant,,ENST00000472515,;SLC5A6,upstream_gene_variant,,ENST00000488743,;ATRAID,upstream_gene_variant,,ENST00000491220,;,regulatory_region_variant,,ENSR00000114400,; C ENSG00000138085 ENST00000611786 Transcript missense_variant 206/1256 33/855 11/284 E/D gaA/gaC 1 1 ATRAID HGNC HGNC:24090 protein_coding YES CCDS1741.1 ENSP00000484228 Q6UW56 UPI0000456D96 NM_080592.3 deleterious_low_confidence(0) benign(0.039) 1/7 mobidb-lite MODERATE 1 SNV 1 PASS AAA . . 27212236 SFTPB . GRCh38 chr2 85665353 85665353 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.644T>G p.Ile215Ser p.I215S ENST00000409383 7/12 102 84 14 41 38 1 SFTPB,missense_variant,p.Ile203Ser,ENST00000393822,;SFTPB,missense_variant,p.Ile203Ser,ENST00000519937,;SFTPB,missense_variant,p.Ile215Ser,ENST00000409383,NM_198843.2,NM_000542.3;SFTPB,missense_variant,p.Ile200Ser,ENST00000428225,;SFTPB,upstream_gene_variant,,ENST00000494165,;SFTPB,downstream_gene_variant,,ENST00000473692,;SFTPB,upstream_gene_variant,,ENST00000491167,; C ENSG00000168878 ENST00000409383 Transcript missense_variant 744/1867 644/1182 215/393 I/S aTt/aGt 1 -1 SFTPB HGNC HGNC:10801 protein_coding YES CCDS1983.2 ENSP00000386346 D6W5L6 UPI0000421A06 NM_198843.2,NM_000542.3 deleterious(0) probably_damaging(0.988) 7/12 hmmpanther:PTHR11480,hmmpanther:PTHR11480:SF33 MODERATE 1 SNV 1 1 PASS AAT . . 85665353 TMEM163 . GRCh38 chr2 134718817 134718817 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.119T>G p.Val40Gly p.V40G ENST00000281924 1/8 133 115 14 39 39 0 TMEM163,missense_variant,p.Val40Gly,ENST00000281924,NM_030923.4;,regulatory_region_variant,,ENSR00000123466,; C ENSG00000152128 ENST00000281924 Transcript missense_variant 184/1892 119/870 40/289 V/G gTg/gGg 1 -1 TMEM163 HGNC HGNC:25380 protein_coding YES CCDS2172.1 ENSP00000281924 Q8TC26 UPI000007217C NM_030923.4 tolerated_low_confidence(0.4) benign(0) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS CAC . . 134718817 ARL6IP6 . GRCh38 chr2 152718956 152718956 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.332T>G p.Ile111Ser p.I111S ENST00000326446 1/4 117 109 8 37 36 1 ARL6IP6,missense_variant,p.Ile111Ser,ENST00000326446,NM_152522.5;PRPF40A,upstream_gene_variant,,ENST00000410080,NM_017892.3,NM_001354432.1;PRPF40A,upstream_gene_variant,,ENST00000448428,;PRPF40A,upstream_gene_variant,,ENST00000493468,;PRPF40A,upstream_gene_variant,,ENST00000545856,;ARL6IP6,intron_variant,,ENST00000495469,;ARL6IP6,upstream_gene_variant,,ENST00000463690,;PRPF40A,upstream_gene_variant,,ENST00000486100,;ARL6IP6,missense_variant,p.Ile13Ser,ENST00000455875,;PRPF40A,upstream_gene_variant,,ENST00000354363,;ARL6IP6,upstream_gene_variant,,ENST00000425034,;PRPF40A,upstream_gene_variant,,ENST00000450303,;PRPF40A,upstream_gene_variant,,ENST00000489741,;,regulatory_region_variant,,ENSR00000124796,; G ENSG00000177917 ENST00000326446 Transcript missense_variant 1043/2805 332/681 111/226 I/S aTt/aGt 1 1 ARL6IP6 HGNC HGNC:24048 protein_coding YES CCDS2197.1 ENSP00000315357 Q8N6S5 UPI000006EA01 NM_152522.5 deleterious(0) benign(0.283) 1/4 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR28640 MODERATE 1 SNV 1 PASS ATT . . 152718956 BSN . GRCh38 chr3 49554781 49554781 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.179T>G p.Val60Gly p.V60G ENST00000296452 1/12 101 82 16 23 22 0 BSN,missense_variant,p.Val60Gly,ENST00000296452,NM_003458.3;BSN-DT,upstream_gene_variant,,ENST00000421598,;BSN-DT,upstream_gene_variant,,ENST00000433882,;,regulatory_region_variant,,ENSR00000152242,; G ENSG00000164061 ENST00000296452 Transcript missense_variant 293/15955 179/11781 60/3926 V/G gTc/gGc 1 1 BSN HGNC HGNC:1117 protein_coding YES CCDS2800.1 ENSP00000296452 Q9UPA5 UPI000013E33C NM_003458.3 tolerated_low_confidence(0.56) benign(0) 1/12 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS GTC . . 49554781 NUDT16 . GRCh38 chr3 131381806 131381806 + Translation_Start_Site SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.2T>G p.Met1? p.M1? ENST00000502852 1/2 161 147 11 29 29 0 NUDT16,start_lost,p.Met1?,ENST00000521288,NM_152395.2;NUDT16,start_lost,p.Met1?,ENST00000502852,NM_001171906.1;NUDT16,intron_variant,,ENST00000537561,NM_001171905.1;AC010210.1,upstream_gene_variant,,ENST00000502521,;,regulatory_region_variant,,ENSR00000158440,; G ENSG00000198585 ENST00000502852 Transcript start_lost 22/1552 2/684 1/227 M/R aTg/aGg 1 1 NUDT16 HGNC HGNC:26442 protein_coding YES CCDS54640.1 ENSP00000422375 Q96DE0 UPI0000E5A96C NM_001171906.1 deleterious_low_confidence(0) unknown(0) 1/2 Gene3D:3.90.79.10,hmmpanther:PTHR31699,hmmpanther:PTHR31699:SF5 HIGH 1 SNV 2 PASS ATG . . 131381806 SIAH2 . GRCh38 chr3 150762707 150762707 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.143T>G p.Val48Gly p.V48G ENST00000312960 1/2 89 72 13 19 19 0 SIAH2,missense_variant,p.Val48Gly,ENST00000312960,NM_005067.5;SIAH2,intron_variant,,ENST00000482706,;SIAH2-AS1,downstream_gene_variant,,ENST00000461943,;SIAH2,intron_variant,,ENST00000472885,;,regulatory_region_variant,,ENSR00000306890,; C ENSG00000181788 ENST00000312960 Transcript missense_variant 671/2517 143/975 48/324 V/G gTg/gGg 1 -1 SIAH2 HGNC HGNC:10858 protein_coding YES CCDS3152.1 ENSP00000322457 O43255 UPI0000071280 NM_005067.5 deleterious(0.04) benign(0.012) 1/2 hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF11,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 150762707 SLC10A4 . GRCh38 chr4 48483814 48483814 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.253T>G p.Phe85Val p.F85V ENST00000273861 1/3 148 118 26 36 33 3 SLC10A4,missense_variant,p.Phe85Val,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168127,; G ENSG00000145248 ENST00000273861 Transcript missense_variant 472/1790 253/1314 85/437 F/V Ttc/Gtc 1 1 SLC10A4 HGNC HGNC:22980 protein_coding YES CCDS3482.1 ENSP00000273861 Q96EP9 UPI000006E8DB NM_152679.3 deleterious(0.02) benign(0) 1/3 hmmpanther:PTHR10361:SF41,hmmpanther:PTHR10361 MODERATE 1 SNV 1 PASS GTT . . 48483814 MUC7 . GRCh38 chr4 70481490 70481490 + Missense_Mutation SNP T T C rs78564790 7316-3316 BS_0P2FRMSA T T c.746T>C p.Leu249Pro p.L249P ENST00000413702 4/4 72 52 10 28 25 0 MUC7,missense_variant,p.Leu249Pro,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Leu249Pro,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Leu249Pro,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,; C ENSG00000171195 ENST00000413702 Transcript missense_variant 1034/2540 746/1134 249/377 L/P cTa/cCa rs78564790,COSM249589 1 1 MUC7 HGNC HGNC:7518 protein_coding YES CCDS3541.1 ENSP00000407422 Q8TAX7 UPI000013E9DD NM_001145006.1 tolerated(0.35) benign(0) 4/4 hmmpanther:PTHR41683,mobidb-lite,Low_complexity_(Seg):seg 0.02134 0.04772 0,1 MODERATE 1 SNV 4 0,1 1 PASS CTA . . 0.002367 0.003636 0.004155 0.002512 0.008583 0.0006501 0.001309 0.004639 0.00166 70481490 SLC12A7 . GRCh38 chr5 1076695 1076695 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.1747A>C p.Met583Leu p.M583L ENST00000264930 13/24 135 123 9 35 34 0 SLC12A7,missense_variant,p.Met583Leu,ENST00000264930,NM_006598.2;SLC12A7,missense_variant,p.Met484Leu,ENST00000634447,;SLC12A7,upstream_gene_variant,,ENST00000513223,;SLC12A7,missense_variant,p.Met30Leu,ENST00000504576,;SLC12A7,downstream_gene_variant,,ENST00000510943,; G ENSG00000113504 ENST00000264930 Transcript missense_variant,splice_region_variant 1791/5280 1747/3252 583/1083 M/L Atg/Ctg 1 -1 SLC12A7 HGNC HGNC:10915 protein_coding YES CCDS34129.1 ENSP00000264930 Q9Y666 UPI0000141815 NM_006598.2 deleterious(0.02) benign(0.159) 13/24 Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF47,TIGRFAM_domain:TIGR00930,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS ATG . . 1076695 DHX29 . GRCh38 chr5 55307573 55307573 + Translation_Start_Site SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.1A>C p.Met1? p.M1? ENST00000251636 1/27 130 119 10 47 47 0 DHX29,start_lost,p.Met1?,ENST00000251636,NM_019030.2;DHX29,start_lost,p.Met1?,ENST00000621106,;MTREX,upstream_gene_variant,,ENST00000230640,NM_015360.4;DHX29,upstream_gene_variant,,ENST00000508346,;MTREX,upstream_gene_variant,,ENST00000503165,;MTREX,upstream_gene_variant,,ENST00000504388,;MTREX,upstream_gene_variant,,ENST00000504997,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;MTREX,upstream_gene_variant,,ENST00000506750,;,regulatory_region_variant,,ENSR00000180740,; G ENSG00000067248 ENST00000251636 Transcript start_lost 150/4502 1/4110 1/1369 M/L Atg/Ctg 1 -1 DHX29 HGNC HGNC:15815 protein_coding YES CCDS34158.1 ENSP00000251636 Q7Z478 UPI00001AE72C NM_019030.2 deleterious_low_confidence(0) benign(0.015) 1/27 HAMAP:MF_03068 HIGH 1 SNV 1 PASS ATG . . 55307573 ADAMTS19 . GRCh38 chr5 129461212 129461212 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.184T>G p.Trp62Gly p.W62G ENST00000638972 2/23 142 125 14 38 35 1 ADAMTS19,missense_variant,p.Trp68Gly,ENST00000274487,;ADAMTS19,missense_variant,p.Trp62Gly,ENST00000638972,NM_133638.3;ADAMTS19-AS1,upstream_gene_variant,,ENST00000502827,;ADAMTS19,intron_variant,,ENST00000505791,;ADAMTS19,upstream_gene_variant,,ENST00000502709,;,regulatory_region_variant,,ENSR00000186613,; G ENSG00000145808 ENST00000638972 Transcript missense_variant 184/5089 184/3624 62/1207 W/G Tgg/Ggg 1 1 ADAMTS19 HGNC HGNC:17111 protein_coding YES CCDS4146.1 ENSP00000491408 Q8TE59 UPI000013DA0D NM_133638.3 tolerated_low_confidence(0.41) benign(0) 2/23 mobidb-lite MODERATE 1 SNV 1 PASS CTG . . 129461212 SHROOM1 . GRCh38 chr5 132830591 132830591 + Splice_Region SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.-501+3A>C ENST00000378679 154 131 16 44 40 3 SHROOM1,splice_region_variant,,ENST00000378679,NM_001172700.1;SHROOM1,splice_region_variant,,ENST00000440118,;SHROOM1,upstream_gene_variant,,ENST00000319854,NM_133456.2;SHROOM1,upstream_gene_variant,,ENST00000378676,;SHROOM1,upstream_gene_variant,,ENST00000617339,;,regulatory_region_variant,,ENSR00000186906,; G ENSG00000164403 ENST00000378679 Transcript splice_region_variant,intron_variant 1 -1 SHROOM1 HGNC HGNC:24084 protein_coding YES CCDS54902.1 ENSP00000367950 Q2M3G4 UPI000036FD4D NM_001172700.1 1/9 LOW 1 SNV 1 PASS GTA . . 132830591 REEP2 . GRCh38 chr5 138439234 138439234 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.26T>G p.Leu9Arg p.L9R ENST00000378339 1/8 103 80 13 36 34 0 REEP2,missense_variant,p.Leu9Arg,ENST00000378339,NM_001271803.1;REEP2,missense_variant,p.Leu9Arg,ENST00000254901,NM_016606.3;REEP2,5_prime_UTR_variant,,ENST00000506158,;KDM3B,downstream_gene_variant,,ENST00000314358,NM_016604.3;REEP2,upstream_gene_variant,,ENST00000512126,;KDM3B,downstream_gene_variant,,ENST00000542866,;REEP2,upstream_gene_variant,,ENST00000613650,;REEP2,non_coding_transcript_exon_variant,,ENST00000464751,;REEP2,missense_variant,p.Leu9Arg,ENST00000507511,;REEP2,non_coding_transcript_exon_variant,,ENST00000510467,;REEP2,non_coding_transcript_exon_variant,,ENST00000503379,;KDM3B,downstream_gene_variant,,ENST00000507996,;KDM3B,downstream_gene_variant,,ENST00000510866,;,regulatory_region_variant,,ENSR00000187485,; G ENSG00000132563 ENST00000378339 Transcript missense_variant 218/2170 26/765 9/254 L/R cTg/cGg 1 1 REEP2 HGNC HGNC:17975 protein_coding YES CCDS64259.1 ENSP00000367590 Q9BRK0 A8K3D2 UPI0000039E47 NM_001271803.1 tolerated(0.06) benign(0.049) 1/8 hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF29,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CTG . . 138439234 GMPR . GRCh38 chr6 16238766 16238766 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.73A>C p.Lys25Gln p.K25Q ENST00000259727 1/9 121 108 8 29 29 0 GMPR,missense_variant,p.Lys25Gln,ENST00000259727,NM_006877.3;,regulatory_region_variant,,ENSR00000193942,; C ENSG00000137198 ENST00000259727 Transcript missense_variant 187/1515 73/1038 25/345 K/Q Aag/Cag 1 1 GMPR HGNC HGNC:4376 protein_coding YES CCDS4537.1 ENSP00000259727 P36959 UPI000012B8B2 NM_006877.3 tolerated(0.11) possibly_damaging(0.672) 1/9 PDB-ENSP_mappings:2ble.A,PDB-ENSP_mappings:2bwg.A,PDB-ENSP_mappings:2bwg.B,PDB-ENSP_mappings:2bwg.C,PDB-ENSP_mappings:2bwg.D,HAMAP:MF_00596,cd00381,hmmpanther:PTHR43170:SF3,hmmpanther:PTHR43170,PIRSF_domain:PIRSF000235,Gene3D:3.20.20.70,Pfam_domain:PF00478,TIGRFAM_domain:TIGR01305,SMART_domains:SM01240,Superfamily_domains:SSF51412 MODERATE 1 SNV 1 PASS CAA . . 16238766 MDC1 . GRCh38 chr6 30704319 30704319 + Missense_Mutation SNP T T A rs1255586130 7316-3316 BS_0P2FRMSA T T c.4864A>T p.Thr1622Ser p.T1622S ENST00000376406 10/15 110 91 15 45 44 0 MDC1,missense_variant,p.Thr1622Ser,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 5512/7576 4864/6270 1622/2089 T/S Acc/Tcc rs1255586130 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0.003) 10/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GTA . . 30704319 MUCL3 . GRCh38 chr6 30950414 30950414 + Missense_Mutation SNP C C A novel 7316-3316 BS_0P2FRMSA C C c.1950C>A p.Asn650Lys p.N650K ENST00000462446 2/3 79 60 7 24 22 0 MUCL3,missense_variant,p.Asn717Lys,ENST00000636043,;MUCL3,missense_variant,p.Asn650Lys,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 1978/5314 1950/4182 650/1393 N/K aaC/aaA 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.75) benign(0.115) 2/3 mobidb-lite,hmmpanther:PTHR22094,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS ACG . . 30950414 RIMS1 . GRCh38 chr6 72182343 72182343 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.872A>C p.Lys291Thr p.K291T ENST00000521978 6/34 126 112 14 35 35 0 RIMS1,missense_variant,p.Lys291Thr,ENST00000264839,;RIMS1,missense_variant,p.Lys291Thr,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Lys291Thr,ENST00000491071,;RIMS1,missense_variant,p.Lys291Thr,ENST00000520567,;RIMS1,missense_variant,p.Lys291Thr,ENST00000517960,;RIMS1,missense_variant,p.Lys291Thr,ENST00000518273,;RIMS1,missense_variant,p.Lys291Thr,ENST00000522291,;RIMS1,upstream_gene_variant,,ENST00000517433,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,; C ENSG00000079841 ENST00000521978 Transcript missense_variant 872/5079 872/5079 291/1692 K/T aAa/aCa 1 1 RIMS1 HGNC HGNC:17282 protein_coding YES CCDS47449.1 ENSP00000428417 Q86UR5 UPI00001908FB NM_014989.5 tolerated(0.16) benign(0.352) 6/34 hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19,mobidb-lite MODERATE 1 SNV 1 1 PASS AAA . . 72182343 CD109 . GRCh38 chr6 73696296 73696296 + Splice_Region SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.74+7A>C ENST00000287097 122 99 16 37 34 3 CD109,splice_region_variant,,ENST00000287097,NM_133493.4;CD109,splice_region_variant,,ENST00000422508,NM_001159588.2;CD109,splice_region_variant,,ENST00000437994,NM_001159587.2;AL590428.1,upstream_gene_variant,,ENST00000428865,;,regulatory_region_variant,,ENSR00000198873,; C ENSG00000156535 ENST00000287097 Transcript splice_region_variant,intron_variant 1 1 CD109 HGNC HGNC:21685 protein_coding YES CCDS4982.1 ENSP00000287097 Q6YHK3 UPI000013DE92 NM_133493.4 1/32 LOW 1 SNV 1 1 PASS AAC . . 73696296 PM20D2 . GRCh38 chr6 89146529 89146529 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.385A>C p.Ile129Leu p.I129L ENST00000275072 1/7 145 122 14 38 36 1 PM20D2,missense_variant,p.Ile129Leu,ENST00000275072,NM_001010853.2;,regulatory_region_variant,,ENSR00000199871,; C ENSG00000146281 ENST00000275072 Transcript missense_variant 480/4708 385/1311 129/436 I/L Atc/Ctc 1 1 PM20D2 HGNC HGNC:21408 protein_coding YES CCDS34499.1 ENSP00000275072 Q8IYS1 UPI0000160C07 NM_001010853.2 tolerated(0.05) probably_damaging(0.99) 1/7 Gene3D:3.40.630.10,Pfam_domain:PF01546,PIRSF_domain:PIRSF037226,hmmpanther:PTHR30575,hmmpanther:PTHR30575:SF0,Superfamily_domains:SSF53187,cd05672,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAT . . 89146529 UBE2J1 . GRCh38 chr6 89352569 89352569 + Translation_Start_Site SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.1A>C p.Met1? p.M1? ENST00000435041 1/8 146 126 15 37 36 1 UBE2J1,start_lost,p.Met1?,ENST00000435041,NM_016021.2;,regulatory_region_variant,,ENSR00000199889,; G ENSG00000198833 ENST00000435041 Transcript start_lost 280/4290 1/957 1/318 M/L Atg/Ctg 1 -1 UBE2J1 HGNC HGNC:17598 protein_coding YES CCDS5021.1 ENSP00000451261 Q9Y385 UPI00000715BA NM_016021.2 tolerated(0.12) benign(0.003) 1/8 hmmpanther:PTHR44235,Gene3D:3.10.110.10 HIGH 1 SNV 1 PASS ATG . . 89352569 DSE . GRCh38 chr6 116399192 116399192 + Splice_Region SNP A A C rs770006734 7316-3316 BS_0P2FRMSA A A c.-53-6A>C ENST00000644252 114 100 9 39 38 0 DSE,splice_region_variant,,ENST00000331677,;DSE,splice_region_variant,,ENST00000359564,NM_001322944.1;DSE,splice_region_variant,,ENST00000430252,;DSE,splice_region_variant,,ENST00000452085,NM_001080976.2;DSE,splice_region_variant,,ENST00000643175,;DSE,splice_region_variant,,ENST00000644252,NM_013352.3,NM_001322941.1,NM_001322939.1,NM_001322937.1,NM_001322940.1,NM_001322938.1;DSE,splice_region_variant,,ENST00000645988,;DSE,splice_region_variant,,ENST00000646710,NM_001322943.1;DSE,splice_region_variant,,ENST00000647244,;Z84488.2,upstream_gene_variant,,ENST00000644499,;DSE,splice_region_variant,,ENST00000607094,;,regulatory_region_variant,,ENSR00000201661,; C ENSG00000111817 ENST00000644252 Transcript splice_region_variant,intron_variant rs770006734 1 1 DSE HGNC HGNC:21144 protein_coding YES CCDS5107.1 ENSP00000494147 UPI0000073CB8 NM_013352.3,NM_001322941.1,NM_001322939.1,NM_001322937.1,NM_001322940.1,NM_001322938.1 1/5 LOW 1 SNV 1 PASS CAC . . 4.148e-06 3.256e-05 116399192 HOXA13 . GRCh38 chr7 27200013 27200013 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.65A>C p.Asn22Thr p.N22T ENST00000222753 1/2 100 83 13 30 27 0 HOXA13,missense_variant,p.Asn22Thr,ENST00000222753,NM_000522.4;HOTTIP,intron_variant,,ENST00000421733,;HOTTIP,intron_variant,,ENST00000605136,;HOTTIP,upstream_gene_variant,,ENST00000472494,;HOTTIP,upstream_gene_variant,,ENST00000521028,;RF02041,upstream_gene_variant,,ENST00000616633,;RF02042,upstream_gene_variant,,ENST00000619957,;RF02040,upstream_gene_variant,,ENST00000620415,;HOXA13,upstream_gene_variant,,ENST00000518136,;,regulatory_region_variant,,ENSR00000209863,; G ENSG00000106031 ENST00000222753 Transcript missense_variant 94/5030 65/1167 22/388 N/T aAc/aCc 1 -1 HOXA13 HGNC HGNC:5102 protein_coding YES CCDS5412.1 ENSP00000222753 P31271 UPI000013C812 NM_000522.4 deleterious(0.03) probably_damaging(0.956) 1/2 MODERATE 1 SNV 1 1 PASS GTT . . 27200013 MUC17 . GRCh38 chr7 101039952 101039952 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.8536A>C p.Lys2846Gln p.K2846Q ENST00000306151 3/13 122 92 9 36 33 0 MUC17,missense_variant,p.Lys2846Gln,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Lys2846Gln,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 8600/14247 8536/13482 2846/4493 K/Q Aaa/Caa 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.092) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAA . . 101039952 UBN2 . GRCh38 chr7 139231735 139231735 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.251T>G p.Met84Arg p.M84R ENST00000473989 1/18 131 102 22 40 38 1 UBN2,missense_variant,p.Met84Arg,ENST00000473989,NM_173569.3;UBN2,intron_variant,,ENST00000486663,;,regulatory_region_variant,,ENSR00000218923,;AC009220.1,upstream_gene_variant,,ENST00000451614,;MZT1P2,downstream_gene_variant,,ENST00000604387,; G ENSG00000157741 ENST00000473989 Transcript missense_variant 251/14444 251/4044 84/1347 M/R aTg/aGg 1 1 UBN2 HGNC HGNC:21931 protein_coding YES CCDS43655.2 ENSP00000418648 Q6ZU65 UPI00001D74DF NM_173569.3 tolerated_low_confidence(0.58) benign(0.013) 1/18 mobidb-lite,hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF10 MODERATE 1 SNV 2 PASS ATG . . 139231735 XKR6 . GRCh38 chr8 11201022 11201022 + Missense_Mutation SNP T T G rs933596769 7316-3316 BS_0P2FRMSA T T c.318A>C p.Gln106His p.Q106H ENST00000416569 1/3 105 78 21 24 20 1 XKR6,missense_variant,p.Gln106His,ENST00000416569,NM_173683.3;XKR6,missense_variant,p.Gln106His,ENST00000297303,;AF131215.7,upstream_gene_variant,,ENST00000602443,;XKR6,upstream_gene_variant,,ENST00000529336,;,regulatory_region_variant,,ENSR00000221033,; G ENSG00000171044 ENST00000416569 Transcript missense_variant 345/3382 318/1926 106/641 Q/H caA/caC rs933596769 1 -1 XKR6 HGNC HGNC:27806 protein_coding YES CCDS5978.2 ENSP00000416707 Q5GH73 UPI00004C7A9D NM_173683.3 tolerated(0.09) benign(0) 1/3 hmmpanther:PTHR16024,hmmpanther:PTHR16024:SF9,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 11201022 FAM83H . GRCh38 chr8 143727819 143727819 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.1642T>G p.Phe548Val p.F548V ENST00000388913 5/5 141 122 11 42 38 2 FAM83H,missense_variant,p.Phe548Val,ENST00000388913,NM_198488.3;FAM83H,missense_variant,p.Phe275Val,ENST00000395103,;,regulatory_region_variant,,ENSR00000232135,; C ENSG00000180921 ENST00000388913 Transcript missense_variant 1768/5654 1642/3540 548/1179 F/V Ttc/Gtc 1 -1 FAM83H HGNC HGNC:24797 protein_coding YES CCDS6410.2 ENSP00000373565 Q6ZRV2 UPI00001D823F NM_198488.3 deleterious(0.01) possibly_damaging(0.906) 5/5 hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8,mobidb-lite MODERATE 1 SNV 5 1 PASS AAG . . 143727819 ARHGAP39 . GRCh38 chr8 144580915 144580915 + Missense_Mutation SNP T T G rs1258306483 7316-3316 BS_0P2FRMSA T T c.443A>C p.Lys148Thr p.K148T ENST00000377307 2/11 144 125 14 36 32 1 ARHGAP39,missense_variant,p.Lys148Thr,ENST00000276826,NM_001308207.1,NM_001308208.1;ARHGAP39,missense_variant,p.Lys148Thr,ENST00000377307,NM_025251.2;AC084125.3,upstream_gene_variant,,ENST00000529377,;,regulatory_region_variant,,ENSR00000232270,; G ENSG00000147799 ENST00000377307 Transcript missense_variant 528/4673 443/3345 148/1114 K/T aAa/aCa rs1258306483 1 -1 ARHGAP39 HGNC HGNC:29351 protein_coding YES CCDS34971.1 ENSP00000366522 Q9C0H5 UPI000021015B NM_025251.2 tolerated(0.22) benign(0.005) 2/11 Gene3D:2.20.70.10,hmmpanther:PTHR23177,hmmpanther:PTHR23177:SF9,mobidb-lite MODERATE SNV 5 PASS TTT . . 4.394e-06 9.946e-06 144580915 KCNV2 . GRCh38 chr9 2718499 2718499 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.760T>G p.Phe254Val p.F254V ENST00000382082 1/2 147 130 14 41 41 0 KCNV2,missense_variant,p.Phe254Val,ENST00000382082,NM_133497.3;PUM3,downstream_gene_variant,,ENST00000490444,;,regulatory_region_variant,,ENSR00000334123,; G ENSG00000168263 ENST00000382082 Transcript missense_variant 998/2186 760/1638 254/545 F/V Ttc/Gtc 1 1 KCNV2 HGNC HGNC:19698 protein_coding YES CCDS6447.1 ENSP00000371514 Q8TDN2 UPI0000048D8E NM_133497.3 tolerated(0.1) benign(0.421) 1/2 Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40 MODERATE 1 SNV 1 1 PASS ATT . . 2718499 ELP1 . GRCh38 chr9 108912456 108912456 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.997A>C p.Lys333Gln p.K333Q ENST00000374647 11/37 113 99 11 47 47 0 ELP1,missense_variant,p.Lys333Gln,ENST00000374647,NM_001318360.1,NM_003640.4;ELP1,5_prime_UTR_variant,,ENST00000537196,; G ENSG00000070061 ENST00000374647 Transcript missense_variant 1305/5905 997/3999 333/1332 K/Q Aag/Cag 1 -1 ELP1 HGNC HGNC:5959 protein_coding YES CCDS6773.1 ENSP00000363779 O95163 UPI000013D2D0 NM_001318360.1,NM_003640.4 deleterious(0) probably_damaging(0.949) 11/37 Gene3D:2.130.10.10,Pfam_domain:PF04762,PIRSF_domain:PIRSF017233,hmmpanther:PTHR12747,Superfamily_domains:SSF69322 MODERATE 1 SNV 1 1 PASS TTG . . 108912456 PRRT1B . GRCh38 chr9 131554823 131554823 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.292A>C p.Ile98Leu p.I98L ENST00000636672 2/4 130 110 16 38 36 1 PRRT1B,missense_variant,p.Ile98Leu,ENST00000636672,;,regulatory_region_variant,,ENSR00000337992,; C ENSG00000283526 ENST00000636672 Transcript missense_variant 394/1312 292/792 98/263 I/L Atc/Ctc 1 1 PRRT1B HGNC HGNC:53642 protein_coding YES ENSP00000490857 A0A1B0GWB2 UPI0007E52AFB tolerated(0.05) benign(0.282) 2/4 hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF18,mobidb-lite MODERATE 1 SNV 5 PASS CAT . . 131554823 CHUK . GRCh38 chr10 100229450 100229450 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.83A>C p.Asn28Thr p.N28T ENST00000370397 1/21 130 107 15 38 36 1 CHUK,missense_variant,p.Asn28Thr,ENST00000370397,NM_001278.4,NM_001320928.1;CWF19L1,downstream_gene_variant,,ENST00000354105,NM_018294.5,NM_001303406.1,NM_001303404.1,NM_001303405.1,NM_001303407.1;AL138921.1,upstream_gene_variant,,ENST00000444359,;CWF19L1,downstream_gene_variant,,ENST00000468709,;CWF19L1,downstream_gene_variant,,ENST00000478047,;CWF19L1,downstream_gene_variant,,ENST00000482452,;,regulatory_region_variant,,ENSR00000032486,; G ENSG00000213341 ENST00000370397 Transcript missense_variant 170/3625 83/2238 28/745 N/T aAc/aCc 1 -1 CHUK HGNC HGNC:1974 protein_coding YES CCDS7488.1 ENSP00000359424 O15111 UPI000013D6C7 NM_001278.4,NM_001320928.1 tolerated(0.21) benign(0.432) 1/21 Gene3D:3.30.200.20,PDB-ENSP_mappings:5ebz.A,PDB-ENSP_mappings:5ebz.B,PDB-ENSP_mappings:5ebz.C,PDB-ENSP_mappings:5ebz.D,PDB-ENSP_mappings:5ebz.E,PDB-ENSP_mappings:5ebz.F,PDB-ENSP_mappings:5ebz.G,PDB-ENSP_mappings:5ebz.H,PDB-ENSP_mappings:5ebz.I,PDB-ENSP_mappings:5ebz.J,PDB-ENSP_mappings:5ebz.K,PDB-ENSP_mappings:5ebz.L,PDB-ENSP_mappings:5tqw.A,PDB-ENSP_mappings:5tqw.B,PDB-ENSP_mappings:5tqx.A,PDB-ENSP_mappings:5tqx.B,PDB-ENSP_mappings:5tqy.A,PDB-ENSP_mappings:5tqy.B,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13,SMART_domains:SM00220,Superfamily_domains:SSF56112,cd14039 MODERATE 1 SNV 1 1 PASS GTT . . 100229450 TAF5 . GRCh38 chr10 103368429 103368429 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.440T>G p.Leu147Arg p.L147R ENST00000369839 1/11 128 89 19 55 44 1 TAF5,missense_variant,p.Leu147Arg,ENST00000369839,NM_139052.2,NM_006951.4;,regulatory_region_variant,,ENSR00000032873,; G ENSG00000148835 ENST00000369839 Transcript missense_variant 463/3268 440/2403 147/800 L/R cTt/cGt 1 1 TAF5 HGNC HGNC:11539 protein_coding YES CCDS7547.1 ENSP00000358854 Q15542 UPI000013DB5B NM_139052.2,NM_006951.4 tolerated(0.1) benign(0.367) 1/11 hmmpanther:PTHR19879,hmmpanther:PTHR19879:SF4 MODERATE 1 SNV 1 PASS CTT . . 103368429 MKI67 . GRCh38 chr10 128107825 128107825 + Missense_Mutation SNP C C T novel 7316-3316 BS_0P2FRMSA C C c.4015G>A p.Glu1339Lys p.E1339K ENST00000368654 13/15 116 98 7 36 33 0 MKI67,missense_variant,p.Glu1339Lys,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Glu979Lys,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;MKI67,downstream_gene_variant,,ENST00000484853,; T ENSG00000148773 ENST00000368654 Transcript missense_variant 4391/12678 4015/9771 1339/3256 E/K Gag/Aag 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 tolerated(1) benign(0) 13/15 Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295,mobidb-lite MODERATE 1 SNV 2 PASS TCT . . 128107825 DRD4 . GRCh38 chr11 639649 639649 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.400T>G p.Phe134Val p.F134V ENST00000176183 3/4 132 113 15 48 46 1 DRD4,missense_variant,p.Phe134Val,ENST00000176183,NM_000797.3;DEAF1,downstream_gene_variant,,ENST00000382409,NM_021008.3,NM_001293634.1;DRD4,splice_region_variant,,ENST00000528733,;DEAF1,downstream_gene_variant,,ENST00000527658,;DEAF1,downstream_gene_variant,,ENST00000527170,;,regulatory_region_variant,,ENSR00000035666,; G ENSG00000069696 ENST00000176183 Transcript missense_variant,splice_region_variant 412/1375 400/1260 134/419 F/V Ttc/Gtc 1 1 DRD4 HGNC HGNC:3025 protein_coding YES CCDS7710.1 ENSP00000176183 P21917 UPI000011F17B NM_000797.3 deleterious(0) probably_damaging(0.998) 3/4 cd15308,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR44250,hmmpanther:PTHR44250:SF1,PROSITE_patterns:PS00237,Prints_domain:PR00237 MODERATE 1 SNV 1 1 PASS GTT . . 639649 KLHL35 . GRCh38 chr11 75430475 75430475 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.155T>G p.Phe52Cys p.F52C ENST00000539798 1/6 140 119 18 41 39 2 KLHL35,missense_variant,p.Phe52Cys,ENST00000539798,NM_001039548.2;GDPD5,downstream_gene_variant,,ENST00000336898,NM_030792.6;KLHL35,upstream_gene_variant,,ENST00000376292,;GDPD5,downstream_gene_variant,,ENST00000443276,;GDPD5,downstream_gene_variant,,ENST00000526177,NM_001351167.1;GDPD5,downstream_gene_variant,,ENST00000529721,;GDPD5,downstream_gene_variant,,ENST00000533784,;GDPD5,downstream_gene_variant,,ENST00000533805,;KLHL35,upstream_gene_variant,,ENST00000460787,;KLHL35,upstream_gene_variant,,ENST00000527491,;GDPD5,downstream_gene_variant,,ENST00000527820,;GDPD5,downstream_gene_variant,,ENST00000531759,; C ENSG00000149243 ENST00000539798 Transcript missense_variant 155/1936 155/1752 52/583 F/C tTt/tGt 1 -1 KLHL35 HGNC HGNC:26597 protein_coding YES CCDS44685.2 ENSP00000438526 Q6PF15 UPI0001B723C7 NM_001039548.2 deleterious(0) probably_damaging(0.941) 1/6 PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF187,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695 MODERATE 1 SNV 1 PASS AAA . . 75430475 CCND2 . GRCh38 chr12 4274173 4274173 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.133A>C p.Lys45Gln p.K45Q ENST00000261254 1/5 114 100 10 44 42 0 CCND2,missense_variant,p.Lys45Gln,ENST00000261254,NM_001759.3;CCND2,upstream_gene_variant,,ENST00000536537,;AC006122.2,intron_variant,,ENST00000537370,;AC006122.2,intron_variant,,ENST00000539135,;AC006122.2,intron_variant,,ENST00000646138,;AC006122.2,intron_variant,,ENST00000646245,;CCND2,upstream_gene_variant,,ENST00000541542,;CCND2,upstream_gene_variant,,ENST00000536795,;,regulatory_region_variant,,ENSR00000266886,; C ENSG00000118971 ENST00000261254 Transcript missense_variant 402/6480 133/870 45/289 K/Q Aag/Cag 1 1 CCND2 HGNC HGNC:1583 protein_coding YES CCDS8524.1 ENSP00000261254 P30279 UPI00001275C5 NM_001759.3 tolerated(0.42) benign(0.005) 1/5 Gene3D:1.10.472.10,Pfam_domain:PF00134,PIRSF_domain:PIRSF001771,hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF66,Superfamily_domains:SSF47954 MODERATE 1 SNV 1 1 PASS CAA . . 4274173 YBX3 . GRCh38 chr12 10723081 10723081 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.31A>C p.Thr11Pro p.T11P ENST00000228251 1/10 138 115 12 37 37 0 YBX3,missense_variant,p.Thr11Pro,ENST00000228251,NM_003651.4;YBX3,missense_variant,p.Thr11Pro,ENST00000279550,NM_001145426.1;YBX3,upstream_gene_variant,,ENST00000544622,;YBX3,upstream_gene_variant,,ENST00000539204,;YBX3,upstream_gene_variant,,ENST00000540747,;YBX3,upstream_gene_variant,,ENST00000544501,;YBX3,upstream_gene_variant,,ENST00000546298,;YBX3,upstream_gene_variant,,ENST00000536107,;YBX3,upstream_gene_variant,,ENST00000540447,;YBX3,upstream_gene_variant,,ENST00000542641,;,regulatory_region_variant,,ENSR00000048749,; G ENSG00000060138 ENST00000228251 Transcript missense_variant 232/1796 31/1119 11/372 T/P Acc/Ccc 1 -1 YBX3 HGNC HGNC:2428 protein_coding YES CCDS8630.1 ENSP00000228251 P16989 A0A024RAQ1 UPI000013DBD6 NM_003651.4 tolerated_low_confidence(0.11) benign(0) 1/10 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 10723081 RFXAP . GRCh38 chr13 36819569 36819569 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.212T>G p.Val71Gly p.V71G ENST00000255476 1/3 127 105 8 58 54 0 RFXAP,missense_variant,p.Val71Gly,ENST00000255476,;,regulatory_region_variant,,ENSR00000061326,; G ENSG00000133111 ENST00000255476 Transcript missense_variant 346/2304 212/819 71/272 V/G gTt/gGt 1 1 RFXAP HGNC HGNC:9988 protein_coding YES CCDS9359.1 ENSP00000255476 O00287 UPI0000133812 tolerated_low_confidence(0.18) benign(0) 1/3 hmmpanther:PTHR15110 MODERATE 1 SNV 1 1 PASS GTT . . 36819569 FAM124A . GRCh38 chr13 51251602 51251602 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.343T>G p.Phe115Val p.F115V ENST00000280057 4/5 105 88 15 49 46 1 FAM124A,missense_variant,p.Phe79Val,ENST00000322475,NM_001242312.1;FAM124A,missense_variant,p.Phe79Val,ENST00000615498,NM_001330522.1;FAM124A,missense_variant,p.Phe115Val,ENST00000280057,NM_145019.3; G ENSG00000150510 ENST00000280057 Transcript missense_variant 474/2104 343/1749 115/582 F/V Ttc/Gtc 1 1 FAM124A HGNC HGNC:26413 protein_coding YES CCDS9427.1 ENSP00000280057 Q86V42 UPI0000140E33 NM_145019.3 deleterious(0) probably_damaging(0.982) 4/5 hmmpanther:PTHR14715:SF4,hmmpanther:PTHR14715,Pfam_domain:PF15067 MODERATE 1 SNV 2 PASS GTT . . 51251602 SNX6 . GRCh38 chr14 34630151 34630151 + Translation_Start_Site SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.2T>G p.Met1? p.M1? ENST00000362031 1/14 118 99 16 42 38 1 SNX6,start_lost,p.Met1?,ENST00000362031,NM_152233.2;SNX6,start_lost,p.Met1?,ENST00000557265,;SNX6,upstream_gene_variant,,ENST00000396526,NM_021249.3;SNX6,upstream_gene_variant,,ENST00000555648,;SNX6,start_lost,p.Met1?,ENST00000556162,;SNX6,start_lost,p.Met1?,ENST00000555416,;SNX6,start_lost,p.Met1?,ENST00000557341,;SNX6,non_coding_transcript_exon_variant,,ENST00000556303,;SNX6,upstream_gene_variant,,ENST00000556712,;,regulatory_region_variant,,ENSR00000067576,; C ENSG00000129515 ENST00000362031 Transcript start_lost 33/2001 2/1257 1/418 M/R aTg/aGg 1 -1 SNX6 HGNC HGNC:14970 protein_coding YES CCDS41942.1 ENSP00000355217 A0A0A0MRI2 UPI00006AB832 NM_152233.2 deleterious_low_confidence(0.04) benign(0.001) 1/14 HIGH 1 SNV 1 PASS CAT . . 34630151 SPTLC2 . GRCh38 chr14 77616530 77616530 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.50A>C p.Asn17Thr p.N17T ENST00000216484 1/12 155 136 16 55 54 0 SPTLC2,missense_variant,p.Asn17Thr,ENST00000216484,NM_004863.3;,regulatory_region_variant,,ENSR00000071183,; G ENSG00000100596 ENST00000216484 Transcript missense_variant 244/8170 50/1689 17/562 N/T aAt/aCt 1 -1 SPTLC2 HGNC HGNC:11278 protein_coding YES CCDS9865.1 ENSP00000216484 O15270 A0A024R6H1 UPI0000000C6B NM_004863.3 tolerated_low_confidence(0.05) benign(0) 1/12 hmmpanther:PTHR13693:SF79,hmmpanther:PTHR13693 MODERATE 1 SNV 1 1 PASS ATT . . 77616530 NIPA1 . GRCh38 chr15 22786658 22786658 + Translation_Start_Site SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.2T>G p.Met1? p.M1? ENST00000337435 1/5 111 77 12 21 20 0 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; G ENSG00000170113 ENST00000337435 Transcript start_lost 27/6567 2/990 1/329 M/R aTg/aGg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS ATG . . 22786658 TRPM7 . GRCh38 chr15 50614200 50614200 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.1558A>C p.Met520Leu p.M520L ENST00000313478 14/39 119 103 14 46 45 0 TRPM7,missense_variant,p.Met520Leu,ENST00000313478,NM_017672.5;TRPM7,missense_variant,p.Met520Leu,ENST00000646667,;TRPM7,missense_variant,p.Met520Leu,ENST00000560955,NM_001301212.1;TRPM7,missense_variant,p.Met57Leu,ENST00000560638,; G ENSG00000092439 ENST00000313478 Transcript missense_variant 1840/10400 1558/5598 520/1865 M/L Atg/Ctg 1 -1 TRPM7 HGNC HGNC:17994 protein_coding YES CCDS42035.1 ENSP00000320239 Q96QT4 A0A024R5V1 UPI0000071CBA NM_017672.5 tolerated(0.16) possibly_damaging(0.813) 14/39 hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF8 MODERATE 1 SNV 1 1 PASS ATG . . 50614200 HDDC3 . GRCh38 chr15 90932432 90932432 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.109A>C p.Ile37Leu p.I37L ENST00000394272 1/4 133 113 18 52 47 5 HDDC3,missense_variant,p.Ile37Leu,ENST00000394272,NM_001286451.1;HDDC3,missense_variant,p.Ile37Leu,ENST00000646620,;HDDC3,missense_variant,p.Ile37Leu,ENST00000330334,NM_198527.3;HDDC3,missense_variant,p.Ile37Leu,ENST00000559898,;HDDC3,synonymous_variant,p.Pro15=,ENST00000561036,;UNC45A,intron_variant,,ENST00000394275,NM_001323621.1,NM_001039675.1;UNC45A,upstream_gene_variant,,ENST00000418476,NM_018671.4,NM_001323620.1,NM_001323619.1;UNC45A,upstream_gene_variant,,ENST00000639885,;HDDC3,intron_variant,,ENST00000448987,;UNC45A,intron_variant,,ENST00000461266,;UNC45A,intron_variant,,ENST00000480470,;HDDC3,downstream_gene_variant,,ENST00000438890,;UNC45A,upstream_gene_variant,,ENST00000553671,;UNC45A,downstream_gene_variant,,ENST00000556319,;UNC45A,upstream_gene_variant,,ENST00000556482,;HDDC3,non_coding_transcript_exon_variant,,ENST00000643068,;HDDC3,non_coding_transcript_exon_variant,,ENST00000494993,;HDDC3,non_coding_transcript_exon_variant,,ENST00000559834,;UNC45A,upstream_gene_variant,,ENST00000486253,;UNC45A,upstream_gene_variant,,ENST00000495068,;UNC45A,upstream_gene_variant,,ENST00000497152,;UNC45A,upstream_gene_variant,,ENST00000557212,;,regulatory_region_variant,,ENSR00000278966,; G ENSG00000184508 ENST00000394272 Transcript missense_variant 138/1880 109/540 37/179 I/L Atc/Ctc 1 -1 HDDC3 HGNC HGNC:30522 protein_coding YES CCDS66866.1 ENSP00000377814 Q8N4P3 UPI0000161A91 NM_001286451.1 tolerated(0.12) benign(0.278) 1/4 Gene3D:1.10.3210.10,Pfam_domain:PF13328,PROSITE_profiles:PS51831,hmmpanther:PTHR21262,hmmpanther:PTHR21262:SF27,SMART_domains:SM00471,Superfamily_domains:SSF109604,cd00077 MODERATE SNV 2 PASS ATG . . 90932432 METRN . GRCh38 chr16 715296 715296 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.7T>G p.Phe3Val p.F3V ENST00000568223 1/4 131 112 18 33 31 1 METRN,missense_variant,p.Phe3Val,ENST00000568223,NM_024042.3;METRN,upstream_gene_variant,,ENST00000219542,;METRN,upstream_gene_variant,,ENST00000567076,;METRN,upstream_gene_variant,,ENST00000568415,;Z97653.1,upstream_gene_variant,,ENST00000567096,;METRN,missense_variant,p.Phe3Val,ENST00000570132,;METRN,upstream_gene_variant,,ENST00000564661,;,regulatory_region_variant,,ENSR00000082234,; G ENSG00000103260 ENST00000568223 Transcript missense_variant 182/3325 7/882 3/293 F/V Ttc/Gtc 1 1 METRN HGNC HGNC:14151 protein_coding YES CCDS10422.1 ENSP00000455068 Q9UJH8 UPI000006DC03 NM_024042.3 tolerated_low_confidence(0.09) possibly_damaging(0.503) 1/4 Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 PASS GTT . . 715296 HAGHL . GRCh38 chr16 728132 728132 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.187A>C p.Asn63His p.N63H ENST00000389703 3/8 128 109 12 40 34 2 HAGHL,missense_variant,p.Asn63His,ENST00000549114,;HAGHL,missense_variant,p.Asn63His,ENST00000341413,;HAGHL,missense_variant,p.Asn63His,ENST00000564537,;HAGHL,missense_variant,p.Asn63His,ENST00000389703,NM_032304.3,NM_001323635.1,NM_001290139.1,NM_001290137.1;HAGHL,missense_variant,p.Asn63His,ENST00000561546,;HAGHL,missense_variant,p.Asn63His,ENST00000568141,;HAGHL,missense_variant,p.Asn63His,ENST00000567414,;HAGHL,missense_variant,p.Lys41Thr,ENST00000564545,;HAGHL,missense_variant,p.Asn63His,ENST00000562141,NM_001323636.1;HAGHL,missense_variant,p.Asn47His,ENST00000563792,;NARFL,downstream_gene_variant,,ENST00000251588,NM_022493.2;CCDC78,upstream_gene_variant,,ENST00000293889,NM_001031737.2;CCDC78,upstream_gene_variant,,ENST00000345165,;CCDC78,upstream_gene_variant,,ENST00000423653,;NARFL,downstream_gene_variant,,ENST00000540986,NM_001304799.1;HAGHL,downstream_gene_variant,,ENST00000562187,;NARFL,downstream_gene_variant,,ENST00000562421,;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000562862,;HAGHL,upstream_gene_variant,,ENST00000563156,;HAGHL,upstream_gene_variant,,ENST00000569604,;HAGHL,non_coding_transcript_exon_variant,,ENST00000567696,;HAGHL,non_coding_transcript_exon_variant,,ENST00000389701,;HAGHL,non_coding_transcript_exon_variant,,ENST00000561750,;HAGHL,non_coding_transcript_exon_variant,,ENST00000569143,;CCDC78,upstream_gene_variant,,ENST00000439619,;CCDC78,upstream_gene_variant,,ENST00000460023,;CCDC78,upstream_gene_variant,,ENST00000463539,;CCDC78,upstream_gene_variant,,ENST00000466708,;CCDC78,upstream_gene_variant,,ENST00000471861,;CCDC78,upstream_gene_variant,,ENST00000474647,;CCDC78,upstream_gene_variant,,ENST00000478979,;CCDC78,upstream_gene_variant,,ENST00000481804,;CCDC78,upstream_gene_variant,,ENST00000482152,;CCDC78,upstream_gene_variant,,ENST00000482878,;CCDC78,upstream_gene_variant,,ENST00000485091,;CCDC78,upstream_gene_variant,,ENST00000538176,;CCDC78,upstream_gene_variant,,ENST00000544996,;HAGHL,upstream_gene_variant,,ENST00000561561,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000564285,;NARFL,downstream_gene_variant,,ENST00000565425,;NARFL,downstream_gene_variant,,ENST00000566650,;HAGHL,upstream_gene_variant,,ENST00000569385,;,regulatory_region_variant,,ENSR00000279388,; C ENSG00000103253 ENST00000389703 Transcript missense_variant 426/1347 187/849 63/282 N/H Aac/Cac 1 1 HAGHL HGNC HGNC:14177 protein_coding YES CCDS32354.1 ENSP00000374353 Q6PII5 UPI00000498AB NM_032304.3,NM_001323635.1,NM_001290139.1,NM_001290137.1 deleterious(0.01) probably_damaging(0.919) 3/8 HAMAP:MF_01374,cd07723,hmmpanther:PTHR11935:SF77,hmmpanther:PTHR11935,TIGRFAM_domain:TIGR03413,Gene3D:3.60.15.10,Pfam_domain:PF00753,SMART_domains:SM00849,Superfamily_domains:SSF56281 MODERATE 1 SNV 1 PASS AAA . . 728132 SPG7 . GRCh38 chr16 89508482 89508482 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.65T>G p.Leu22Arg p.L22R ENST00000645818 1/17 145 121 16 36 32 4 SPG7,missense_variant,p.Leu22Arg,ENST00000645818,NM_003119.3;SPG7,missense_variant,p.Leu22Arg,ENST00000645063,;SPG7,missense_variant,p.Leu22Arg,ENST00000268704,;SPG7,missense_variant,p.Leu22Arg,ENST00000644781,;SPG7,missense_variant,p.Leu22Arg,ENST00000645897,;SPG7,missense_variant,p.Leu22Arg,ENST00000643649,;SPG7,missense_variant,p.Leu22Arg,ENST00000341316,NM_199367.2;SPG7,missense_variant,p.Leu22Arg,ENST00000646716,;SPG7,missense_variant,p.Leu22Arg,ENST00000643307,;SPG7,missense_variant,p.Leu22Arg,ENST00000566371,;SPG7,intron_variant,,ENST00000646303,;SPG7,intron_variant,,ENST00000647079,;SPG7,upstream_gene_variant,,ENST00000644671,;SPG7,upstream_gene_variant,,ENST00000646445,;AC092123.1,upstream_gene_variant,,ENST00000565623,;SPG7,non_coding_transcript_exon_variant,,ENST00000569363,;SPG7,non_coding_transcript_exon_variant,,ENST00000642436,;SPG7,upstream_gene_variant,,ENST00000568151,;SPG7,upstream_gene_variant,,ENST00000643178,;SPG7,missense_variant,p.Leu22Arg,ENST00000646930,;SPG7,missense_variant,p.Leu22Arg,ENST00000644901,;SPG7,missense_variant,p.Leu22Arg,ENST00000644498,;SPG7,missense_variant,p.Leu22Arg,ENST00000643668,;SPG7,missense_variant,p.Leu22Arg,ENST00000646263,;SPG7,missense_variant,p.Leu22Arg,ENST00000645042,;SPG7,missense_variant,p.Leu22Arg,ENST00000646826,;SPG7,missense_variant,p.Leu22Arg,ENST00000646531,;SPG7,missense_variant,p.Leu22Arg,ENST00000643724,;SPG7,missense_variant,p.Leu22Arg,ENST00000644210,;SPG7,missense_variant,p.Leu22Arg,ENST00000643345,;SPG7,missense_variant,p.Leu22Arg,ENST00000646589,;SPG7,missense_variant,p.Leu22Arg,ENST00000645533,;SPG7,non_coding_transcript_exon_variant,,ENST00000644225,;SPG7,non_coding_transcript_exon_variant,,ENST00000645977,;SPG7,non_coding_transcript_exon_variant,,ENST00000646958,;SPG7,non_coding_transcript_exon_variant,,ENST00000564047,;SPG7,upstream_gene_variant,,ENST00000562775,;SPG7,upstream_gene_variant,,ENST00000564409,;SPG7,upstream_gene_variant,,ENST00000642334,;SPG7,upstream_gene_variant,,ENST00000642371,;SPG7,upstream_gene_variant,,ENST00000643105,;SPG7,upstream_gene_variant,,ENST00000643954,;SPG7,upstream_gene_variant,,ENST00000643957,;SPG7,upstream_gene_variant,,ENST00000645354,;SPG7,upstream_gene_variant,,ENST00000646399,;SPG7,upstream_gene_variant,,ENST00000647227,;,regulatory_region_variant,,ENSR00000089734,; G ENSG00000197912 ENST00000645818 Transcript missense_variant 361/3359 65/2388 22/795 L/R cTg/cGg 1 1 SPG7 HGNC HGNC:11237 protein_coding YES CCDS10977.1 ENSP00000495795 UPI0000031FAA NM_003119.3 tolerated_low_confidence(0.05) possibly_damaging(0.601) 1/17 Low_complexity_(Seg):seg MODERATE SNV 1 PASS CTG . . 89508482 MPRIP . GRCh38 chr17 17147356 17147356 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.1244T>G p.Leu415Arg p.L415R ENST00000395811 11/23 145 128 14 39 37 2 MPRIP,missense_variant,p.Leu415Arg,ENST00000395811,NM_015134.3;MPRIP,missense_variant,p.Leu415Arg,ENST00000341712,NM_201274.3;MPRIP,missense_variant,p.Leu221Arg,ENST00000584067,;MPRIP,downstream_gene_variant,,ENST00000466186,;MPRIP,upstream_gene_variant,,ENST00000581955,; G ENSG00000133030 ENST00000395811 Transcript missense_variant 1333/10960 1244/3117 415/1038 L/R cTg/cGg 1 1 MPRIP HGNC HGNC:30321 protein_coding YES CCDS42268.1 ENSP00000379156 Q6WCQ1 UPI0000200A77 NM_015134.3 deleterious(0) probably_damaging(1) 11/23 PROSITE_profiles:PS50003,cd13275,hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF9,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729 MODERATE 1 SNV 1 PASS CTG . . 17147356 SREBF1 . GRCh38 chr17 17816201 17816201 + Splice_Region SNP A A C rs28533148 7316-3316 BS_0P2FRMSA A A c.2304+6T>G ENST00000355815 34 26 5 17 17 0 SREBF1,splice_region_variant,,ENST00000261646,NM_004176.4;SREBF1,splice_region_variant,,ENST00000355815,NM_001321096.2,NM_001005291.2;SREBF1,splice_region_variant,,ENST00000395757,;RAI1,downstream_gene_variant,,ENST00000353383,NM_030665.3;SREBF1,downstream_gene_variant,,ENST00000423161,;SREBF1,upstream_gene_variant,,ENST00000478616,;SREBF1,upstream_gene_variant,,ENST00000486311,;SREBF1,downstream_gene_variant,,ENST00000577897,;MIR33B,upstream_gene_variant,,ENST00000385104,;MIR6777,upstream_gene_variant,,ENST00000613934,;SREBF1,downstream_gene_variant,,ENST00000583732,;SREBF1,splice_region_variant,,ENST00000395751,;SREBF1,splice_region_variant,,ENST00000395756,;SREBF1,splice_region_variant,,ENST00000447641,;SREBF1,splice_region_variant,,ENST00000490796,;SREBF1,splice_region_variant,,ENST00000584760,;SREBF1,downstream_gene_variant,,ENST00000469356,;SREBF1,downstream_gene_variant,,ENST00000470247,;SREBF1,downstream_gene_variant,,ENST00000471445,;SREBF1,downstream_gene_variant,,ENST00000476994,;SREBF1,upstream_gene_variant,,ENST00000485080,;SREBF1,downstream_gene_variant,,ENST00000487401,;SREBF1,upstream_gene_variant,,ENST00000578469,;SREBF1,downstream_gene_variant,,ENST00000580540,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,downstream_gene_variant,,ENST00000583080,; C ENSG00000072310 ENST00000355815 Transcript splice_region_variant,intron_variant rs28533148,COSM3746428,COSM3746427 1 -1 SREBF1 HGNC HGNC:11289 protein_coding YES CCDS32583.1 ENSP00000348069 P36956 UPI00004432F6 NM_001321096.2,NM_001005291.2 12/19 0,1,1 LOW 1 SNV 1 0,1,1 PASS CAC . . 17816201 GAS2L2 . GRCh38 chr17 35747063 35747063 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.1038A>C p.Glu346Asp p.E346D ENST00000604641 5/6 108 88 17 36 32 3 GAS2L2,missense_variant,p.Glu346Asp,ENST00000604641,NM_139285.3;GAS2L2,missense_variant,p.Glu330Asp,ENST00000604063,;GAS2L2,3_prime_UTR_variant,,ENST00000618498,;RASL10B,downstream_gene_variant,,ENST00000603017,NM_033315.3;TAF15,intron_variant,,ENST00000603067,; G ENSG00000270765 ENST00000604641 Transcript missense_variant 1066/3014 1038/2643 346/880 E/D gaA/gaC 1 -1 GAS2L2 HGNC HGNC:24846 protein_coding YES CCDS11298.1 ENSP00000474529 Q8NHY3 UPI0000061E50 NM_139285.3 tolerated(0.29) benign(0.006) 5/6 hmmpanther:PTHR45044,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 35747063 TCAP . GRCh38 chr17 39665728 39665728 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.123T>G p.His41Gln p.H41Q ENST00000309889 2/2 127 107 11 47 45 1 TCAP,missense_variant,p.His41Gln,ENST00000309889,NM_003673.3;TCAP,missense_variant,p.His41Gln,ENST00000578283,;PNMT,upstream_gene_variant,,ENST00000269582,NM_002686.4;STARD3,downstream_gene_variant,,ENST00000336308,NM_006804.3;PNMT,upstream_gene_variant,,ENST00000394246,;STARD3,downstream_gene_variant,,ENST00000394250,NM_001165938.1;STARD3,downstream_gene_variant,,ENST00000544210,NM_001165937.1;STARD3,downstream_gene_variant,,ENST00000580611,;PNMT,upstream_gene_variant,,ENST00000581428,;STARD3,downstream_gene_variant,,ENST00000583639,;STARD3,downstream_gene_variant,,ENST00000471896,;STARD3,downstream_gene_variant,,ENST00000481171,;STARD3,downstream_gene_variant,,ENST00000488876,;STARD3,downstream_gene_variant,,ENST00000578384,;STARD3,downstream_gene_variant,,ENST00000578577,;STARD3,downstream_gene_variant,,ENST00000578686,;STARD3,downstream_gene_variant,,ENST00000583884,;STARD3,downstream_gene_variant,,ENST00000584850,;STARD3,downstream_gene_variant,,ENST00000585269,;,regulatory_region_variant,,ENSR00000093969,; G ENSG00000173991 ENST00000309889 Transcript missense_variant 1296/2123 123/504 41/167 H/Q caT/caG 1 1 TCAP HGNC HGNC:11610 protein_coding YES CCDS11342.1 ENSP00000312624 O15273 A2TDC0 UPI0000136BAD NM_003673.3 tolerated(0.41) benign(0.223) 2/2 PDB-ENSP_mappings:1ya5.T,Gene3D:2.20.160.10,PDB-ENSP_mappings:2f8v.T,PDB-ENSP_mappings:2f8v.Y,Pfam_domain:PF09470,hmmpanther:PTHR15143 MODERATE 1 SNV 1 1 PASS ATG . . 39665728 OTOP2 . GRCh38 chr17 74924910 74924910 + Missense_Mutation SNP A A C 7316-3316 BS_0P2FRMSA A A c.278A>C p.Tyr93Ser p.Y93S ENST00000331427 2/7 128 114 10 50 49 1 OTOP2,missense_variant,p.Tyr93Ser,ENST00000331427,NM_178160.2;OTOP2,missense_variant,p.Tyr93Ser,ENST00000580223,;USH1G,upstream_gene_variant,,ENST00000614341,NM_173477.4,NM_001282489.2;OTOP2,non_coding_transcript_exon_variant,,ENST00000584711,;USH1G,upstream_gene_variant,,ENST00000579243,; C ENSG00000183034 ENST00000331427 Transcript missense_variant 370/2147 278/1689 93/562 Y/S tAc/tCc COSM5812249 1 1 OTOP2 HGNC HGNC:19657 protein_coding YES CCDS11708.1 ENSP00000332528 Q7RTS6 UPI000018F613 NM_178160.2 deleterious(0.01) possibly_damaging(0.677) 2/7 hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF35 1 MODERATE SNV 5 1 PASS TAC . . 74924910 MEX3C . GRCh38 chr18 51197016 51197016 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.305A>C p.Glu102Ala p.E102A ENST00000406189 1/2 88 72 8 20 20 0 MEX3C,missense_variant,p.Glu102Ala,ENST00000406189,NM_016626.4;MEX3C,intron_variant,,ENST00000616921,;MEX3C,upstream_gene_variant,,ENST00000592416,;MEX3C,intron_variant,,ENST00000591040,;,regulatory_region_variant,,ENSR00000103367,; G ENSG00000176624 ENST00000406189 Transcript missense_variant 305/3781 305/1980 102/659 E/A gAg/gCg 1 -1 MEX3C HGNC HGNC:28040 protein_coding YES CCDS11951.2 ENSP00000385610 Q5U5Q3 UPI00005956CD NM_016626.4 deleterious_low_confidence(0) benign(0.003) 1/2 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CTC . . 51197016 MLLT1 . GRCh38 chr19 6222425 6222425 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.806A>C p.Lys269Thr p.K269T ENST00000252674 6/12 81 63 16 35 33 1 MLLT1,missense_variant,p.Lys269Thr,ENST00000252674,NM_005934.3; G ENSG00000130382 ENST00000252674 Transcript missense_variant 970/4507 806/1680 269/559 K/T aAg/aCg 1 -1 MLLT1 HGNC HGNC:7134 protein_coding YES CCDS12160.1 ENSP00000252674 Q03111 UPI000006F7B3 NM_005934.3 tolerated(0.49) benign(0.436) 6/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23195:SF14,hmmpanther:PTHR23195 MODERATE 1 SNV 1 1 PASS CTT . . 6222425 LYL1 . GRCh38 chr19 13099491 13099491 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.671A>C p.Lys224Thr p.K224T ENST00000264824 4/4 147 129 15 46 43 2 LYL1,missense_variant,p.Lys224Thr,ENST00000264824,NM_005583.4;NFIX,downstream_gene_variant,,ENST00000358552,;NFIX,downstream_gene_variant,,ENST00000360105,;NFIX,downstream_gene_variant,,ENST00000397661,NM_002501.3;NFIX,downstream_gene_variant,,ENST00000585575,;NFIX,downstream_gene_variant,,ENST00000587260,;NFIX,downstream_gene_variant,,ENST00000587760,NM_001271044.2;NFIX,downstream_gene_variant,,ENST00000588228,NM_001271043.2;LYL1,downstream_gene_variant,,ENST00000590974,;NFIX,downstream_gene_variant,,ENST00000592199,;NFIX,downstream_gene_variant,,ENST00000586797,;LYL1,downstream_gene_variant,,ENST00000590120,; G ENSG00000104903 ENST00000264824 Transcript missense_variant 1032/1490 671/843 224/280 K/T aAa/aCa 1 -1 LYL1 HGNC HGNC:6734 protein_coding YES CCDS12292.1 ENSP00000264824 P12980 UPI000013D576 NM_005583.4 deleterious(0.02) benign(0.031) 4/4 mobidb-lite,hmmpanther:PTHR13864:SF6,hmmpanther:PTHR13864 MODERATE 1 SNV 1 1 PASS TTT . . 13099491 NOTCH3 . GRCh38 chr19 15170144 15170144 + Missense_Mutation SNP A A C novel 7316-3316 BS_0P2FRMSA A A c.5141T>G p.Met1714Arg p.M1714R ENST00000263388 28/33 137 121 13 40 40 0 NOTCH3,missense_variant,p.Met1714Arg,ENST00000263388,NM_000435.2;NOTCH3,upstream_gene_variant,,ENST00000597756,;NOTCH3,missense_variant,p.Met3Arg,ENST00000595514,; C ENSG00000074181 ENST00000263388 Transcript missense_variant 5217/8666 5141/6966 1714/2321 M/R aTg/aGg 1 -1 NOTCH3 HGNC HGNC:7883 protein_coding YES CCDS12326.1 ENSP00000263388 Q9UM47 UPI000013D3FA NM_000435.2 tolerated(0.07) benign(0.424) 28/33 PIRSF_domain:PIRSF002279,hmmpanther:PTHR43959,hmmpanther:PTHR43959:SF3 MODERATE 1 SNV 1 1 PASS CAT . . 15170144 PIK3R2 . GRCh38 chr19 18161429 18161429 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.749T>G p.Phe250Cys p.F250C ENST00000222254 6/16 115 86 22 33 30 0 PIK3R2,missense_variant,p.Phe250Cys,ENST00000222254,NM_005027.3;PIK3R2,missense_variant,p.Phe250Cys,ENST00000617130,;PIK3R2,missense_variant,p.Phe250Cys,ENST00000617642,;AC007192.1,missense_variant,p.Phe250Cys,ENST00000593731,;PIK3R2,missense_variant,p.Phe250Cys,ENST00000426902,;PIK3R2,non_coding_transcript_exon_variant,,ENST00000474310,;PIK3R2,upstream_gene_variant,,ENST00000464016,;PIK3R2,upstream_gene_variant,,ENST00000600533,;,regulatory_region_variant,,ENSR00000108023,;,TF_binding_site_variant,,MA0139.1,;,TF_binding_site_variant,,MA0531.1,; G ENSG00000105647 ENST00000222254 Transcript missense_variant 1349/4033 749/2187 250/728 F/C tTt/tGt 1 1 PIK3R2 HGNC HGNC:8980 protein_coding YES CCDS12371.1 ENSP00000222254 O00459 UPI000006EF95 NM_005027.3 deleterious(0) possibly_damaging(0.87) 6/16 PDB-ENSP_mappings:2xs6.A,PROSITE_profiles:PS50238,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF1,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350 MODERATE 1 SNV 1 1 PASS TTT . . 18161429 KMT2B . GRCh38 chr19 35718076 35718076 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.58T>G p.Phe20Val p.F20V ENST00000420124 1/37 96 74 18 31 28 2 KMT2B,missense_variant,p.Phe20Val,ENST00000420124,NM_014727.2;ZBTB32,downstream_gene_variant,,ENST00000262630,;ZBTB32,downstream_gene_variant,,ENST00000392197,NM_014383.2,NM_001316902.1;ZBTB32,downstream_gene_variant,,ENST00000426659,NM_001316903.1;ZBTB32,downstream_gene_variant,,ENST00000442282,;ZBTB32,downstream_gene_variant,,ENST00000451726,;KMT2B,upstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000481182,;,regulatory_region_variant,,ENSR00000109057,; G ENSG00000272333 ENST00000420124 Transcript missense_variant 58/8469 58/8148 20/2715 F/V Ttc/Gtc 1 1 KMT2B HGNC HGNC:15840 protein_coding YES CCDS46055.1 ENSP00000398837 Q9UMN6 UPI00001376B5 NM_014727.2 deleterious_low_confidence(0.02) benign(0.014) 1/37 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTT . . 35718076 ZNF345 . GRCh38 chr19 36877716 36877716 + Missense_Mutation SNP A A G rs1291230084 7316-3316 BS_0P2FRMSA A A c.886A>G p.Asn296Asp p.N296D ENST00000529555 2/2 92 77 6 39 35 0 ZNF345,missense_variant,p.Asn296Asp,ENST00000529555,;ZNF345,missense_variant,p.Asn296Asp,ENST00000589046,NM_003419.4;ZNF345,missense_variant,p.Asn296Asp,ENST00000614069,NM_001242474.1;ZNF345,missense_variant,p.Asn296Asp,ENST00000612719,NM_001242475.1,NM_001242476.1;ZNF345,missense_variant,p.Asn296Asp,ENST00000420450,NM_001242472.1;ZNF345,missense_variant,p.Asn167Asp,ENST00000640438,;ZNF345,intron_variant,,ENST00000526123,;ZNF345,intron_variant,,ENST00000586933,;ZNF345,downstream_gene_variant,,ENST00000331800,;ZNF345,downstream_gene_variant,,ENST00000532141,;ZNF345,downstream_gene_variant,,ENST00000585396,;ZNF345,downstream_gene_variant,,ENST00000586646,;ZNF345,intron_variant,,ENST00000432005,;ZNF345,intron_variant,,ENST00000525851,;ZNF345,intron_variant,,ENST00000529989,;ZNF345,intron_variant,,ENST00000534729,; G ENSG00000251247 ENST00000529555 Transcript missense_variant 1674/3527 886/1467 296/488 N/D Aat/Gat rs1291230084 1 1 ZNF345 HGNC HGNC:16367 protein_coding YES CCDS12497.1 ENSP00000431202 Q14585 UPI000013C364 tolerated(0.07) benign(0.333) 2/2 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF637,hmmpanther:PTHR24377:SF637,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TAA . . 36877716 SELENOV . GRCh38 chr19 39515514 39515514 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.302T>G p.Val101Gly p.V101G ENST00000335426 1/6 125 104 16 47 45 1 SELENOV,missense_variant,p.Val101Gly,ENST00000335426,NM_182704.1;SELENOV,missense_variant,p.Val101Gly,ENST00000622070,;SELENOV,missense_variant,p.Val101Gly,ENST00000423711,;SELENOV,non_coding_transcript_exon_variant,,ENST00000597876,;SELENOV,upstream_gene_variant,,ENST00000600586,;,regulatory_region_variant,,ENSR00000109437,; G ENSG00000186838 ENST00000335426 Transcript missense_variant 402/1704 302/1041 101/346 V/G gTt/gGt 1 1 SELENOV HGNC HGNC:30399 protein_coding YES CCDS54266.1 ENSP00000333956 P59797 UPI00001B2974 NM_182704.1 deleterious(0) benign(0.003) 1/6 Low_complexity_(Seg):seg,hmmpanther:PTHR15124:SF17,hmmpanther:PTHR15124,Prints_domain:PR01217 MODERATE 1 SNV 1 PASS GTT . . 39515514 SHANK1 . GRCh38 chr19 50668217 50668217 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.3743A>C p.Asn1248Thr p.N1248T ENST00000293441 22/23 118 95 16 30 26 1 SHANK1,missense_variant,p.Asn1248Thr,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Asn1256Thr,ENST00000391814,;SHANK1,missense_variant,p.Asn1239Thr,ENST00000359082,;SHANK1,missense_variant,p.Asn635Thr,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,; G ENSG00000161681 ENST00000293441 Transcript missense_variant 3762/6643 3743/6486 1248/2161 N/T aAt/aCt 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 tolerated(0.56) benign(0.009) 22/23 mobidb-lite,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3 MODERATE 1 SNV 1 1 PASS ATT . . 50668217 CTU1 . GRCh38 chr19 51098722 51098722 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.926A>C p.Asn309Thr p.N309T ENST00000421832 3/3 123 108 14 26 26 0 CTU1,missense_variant,p.Asn309Thr,ENST00000421832,NM_145232.3;,regulatory_region_variant,,ENSR00000111136,; G ENSG00000142544 ENST00000421832 Transcript missense_variant 971/2087 926/1047 309/348 N/T aAc/aCc 1 -1 CTU1 HGNC HGNC:29590 protein_coding YES CCDS12824.1 ENSP00000390011 Q7Z7A3 UPI000013D897 NM_145232.3 deleterious(0.02) benign(0.133) 3/3 HAMAP:MF_03053,hmmpanther:PTHR11807,hmmpanther:PTHR11807:SF12,PIRSF_domain:PIRSF004976,Pfam_domain:PF16503 MODERATE 1 SNV 2 PASS GTT . . 51098722 ZNF543 . GRCh38 chr19 57328254 57328254 + Missense_Mutation SNP T T A novel 7316-3316 BS_0P2FRMSA T T c.792T>A p.Phe264Leu p.F264L ENST00000321545 4/4 105 88 7 33 32 1 ZNF543,missense_variant,p.Phe264Leu,ENST00000321545,NM_213598.3; A ENSG00000178229 ENST00000321545 Transcript missense_variant 1137/3659 792/1803 264/600 F/L ttT/ttA 1 1 ZNF543 HGNC HGNC:25281 protein_coding YES CCDS33130.1 ENSP00000322545 Q08ER8 UPI00001D8197 NM_213598.3 deleterious(0) probably_damaging(0.998) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF710,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTA . . 57328254 SCRT2 . GRCh38 chr20 664340 664340 + Missense_Mutation SNP T T G novel 7316-3316 BS_0P2FRMSA T T c.255A>C p.Glu85Asp p.E85D ENST00000246104 2/2 102 89 12 35 33 2 SCRT2,missense_variant,p.Glu85Asp,ENST00000246104,NM_033129.3;AL121758.1,intron_variant,,ENST00000488788,; G ENSG00000215397 ENST00000246104 Transcript missense_variant 833/3577 255/924 85/307 E/D gaA/gaC 1 -1 SCRT2 HGNC HGNC:15952 protein_coding YES CCDS13006.1 ENSP00000246104 Q9NQ03 UPI00002318AA NM_033129.3 tolerated(0.9) benign(0.012) 2/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44270,hmmpanther:PTHR44270:SF3,Gene3D:3.30.160.60 MODERATE 1 SNV 1 PASS TTT . . 664340 POTEH . GRCh38 chr22 15690512 15690512 + Missense_Mutation SNP C C G rs536163436 7316-3316 BS_0P2FRMSA C C c.435C>G p.Cys145Trp p.C145W ENST00000343518 1/11 184 156 21 52 49 0 POTEH,missense_variant,p.Cys145Trp,ENST00000343518,NM_001136213.1;POTEH,missense_variant,p.Cys108Trp,ENST00000621704,;POTEH,missense_variant,p.Cys89Trp,ENST00000452800,;,regulatory_region_variant,,ENSR00000300933,; G ENSG00000198062 ENST00000343518 Transcript missense_variant 487/1928 435/1638 145/545 C/W tgC/tgG rs536163436,COSM6559232,COSM4296926 1 1 POTEH HGNC HGNC:133 protein_coding YES CCDS74808.1 ENSP00000340610 Q6S545 UPI0000E5A425 NM_001136213.1 deleterious_low_confidence(0.01) possibly_damaging(0.711) 1/11 hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 0.9996 0.001 0.001 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCT . . 15690512 PNMA6E . GRCh38 chrX 153398443 153398443 + Missense_Mutation SNP A A C rs1488425142 7316-3316 BS_0P2FRMSA A A c.407T>G p.Val136Gly p.V136G ENST00000445091 2/2 67 47 10 22 20 0 PNMA6E,missense_variant,p.Val136Gly,ENST00000445091,;PNMA6E,intron_variant,,ENST00000633844,NM_001351294.1,NM_001351293.1; C ENSG00000214897 ENST00000445091 Transcript missense_variant 655/2192 407/1944 136/647 V/G gTa/gGa rs1488425142 1 -1 PNMA6E HGNC HGNC:50767 protein_coding YES ENSP00000488500 A0A0J9YXQ4 UPI0006454748 tolerated(0.56) unknown(0) 2/2 hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF20,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS TAC . . 153398443 PANK4 . GRCh38 chr1 2510162 2510164 + Splice_Region DEL AGG AGG - rs1036255012 7316-1751 BS_PTYP388A AGG AGG c.1963-7_1963-5del ENST00000378466 81 46 32 45 43 0 PANK4,splice_region_variant,,ENST00000378466,NM_018216.2;PANK4,splice_region_variant,,ENST00000435556,;PLCH2,downstream_gene_variant,,ENST00000278878,;PLCH2,downstream_gene_variant,,ENST00000378486,NM_014638.3,NM_001303013.1;PLCH2,downstream_gene_variant,,ENST00000419816,;PLCH2,downstream_gene_variant,,ENST00000449969,NM_001303012.1;PANK4,splice_region_variant,,ENST00000502512,;PANK4,splice_region_variant,,ENST00000505228,;PLCH2,downstream_gene_variant,,ENST00000343889,;PLCH2,downstream_gene_variant,,ENST00000462379,;PANK4,downstream_gene_variant,,ENST00000468002,;PANK4,downstream_gene_variant,,ENST00000471361,;PLCH2,downstream_gene_variant,,ENST00000473964,;PANK4,downstream_gene_variant,,ENST00000487804,;PANK4,downstream_gene_variant,,ENST00000515423,; - ENSG00000157881 ENST00000378466 Transcript splice_region_variant,intron_variant rs1036255012 1 -1 PANK4 HGNC HGNC:19366 protein_coding YES CCDS42.2 ENSP00000367727 Q9NVE7 UPI0001AE783E NM_018216.2 16/18 LOW 1 deletion 1 PASS GCAGGA . . 4.582e-06 3.615e-05 2510161 SNX7 . GRCh38 chr1 98661793 98661793 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.62A>C p.Asn21Thr p.N21T ENST00000306121 1/9 89 76 9 39 38 0 SNX7,missense_variant,p.Asn21Thr,ENST00000306121,NM_015976.4;SNX7,missense_variant,p.Asn21Thr,ENST00000529992,NM_152238.3;SNX7,upstream_gene_variant,,ENST00000454199,;SNX7,upstream_gene_variant,,ENST00000473868,;AC095031.1,upstream_gene_variant,,ENST00000623685,;SNX7,upstream_gene_variant,,ENST00000528824,;,regulatory_region_variant,,ENSR00000010482,; C ENSG00000162627 ENST00000306121 Transcript missense_variant 71/1734 62/1356 21/451 N/T aAc/aCc 1 1 SNX7 HGNC HGNC:14971 protein_coding YES CCDS755.2 ENSP00000304429 Q9UNH6 UPI0000205396 NM_015976.4 tolerated_low_confidence(0.66) benign(0) 1/9 hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 98661793 POLR3GL . GRCh38 chr1 145978032 145978034 + In_Frame_Del DEL AAG AAG - rs1485270795 7316-1751 BS_PTYP388A AAG AAG c.519_521del p.Glu174del p.E174del ENST00000369314 7/8 82 76 5 35 34 0 POLR3GL,inframe_deletion,p.Glu174del,ENST00000369314,NM_032305.1;POLR3GL,inframe_deletion,p.Glu151del,ENST00000369313,;AC243547.3,downstream_gene_variant,,ENST00000625258,;AC243547.3,downstream_gene_variant,,ENST00000630636,;POLR3GL,non_coding_transcript_exon_variant,,ENST00000622508,;POLR3GL,non_coding_transcript_exon_variant,,ENST00000471706,;,regulatory_region_variant,,ENSR00000012953,; - ENSG00000121851 ENST00000369314 Transcript inframe_deletion 613-615/1165 506-508/657 169-170/218 KE/K aAAGaa/aaa rs1485270795 1 1 POLR3GL HGNC HGNC:28466 protein_coding YES CCDS72875.1 ENSP00000358320 Q9BT43 UPI000006F290 NM_032305.1 7/8 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15367,hmmpanther:PTHR15367:SF4,Pfam_domain:PF11705,PIRSF_domain:PIRSF000777,Gene3D:3.40.50.150 MODERATE 1 deletion 1 13 PASS GAAAGA . . 145978031 NBPF10 . GRCh38 chr1 146069630 146069630 + Missense_Mutation SNP G G C rs879147417 7316-1751 BS_PTYP388A G G c.10723C>G p.Leu3575Val p.L3575V ENST00000583866 86/90 40 29 10 26 26 0 NBPF10,missense_variant,p.Leu3575Val,ENST00000583866,NM_001039703.5,NM_001302371.1;NBPF10,missense_variant,p.Leu1019Val,ENST00000617010,; C ENSG00000271425 ENST00000583866 Transcript missense_variant 10758/13042 10723/11388 3575/3795 L/V Ctt/Gtt rs879147417 1 -1 NBPF10 HGNC HGNC:31992 protein_coding YES CCDS76206.1 ENSP00000463957 A0A075B762 UPI00051EF319 NM_001039703.5,NM_001302371.1 tolerated(0.51) possibly_damaging(0.87) 86/90 PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF28,Pfam_domain:PF06758,SMART_domains:SM01148 MODERATE 1 SNV 5 PASS AGA . . 146069630 NBPF10 . GRCh38 chr1 146069686 146069686 + Missense_Mutation SNP C C T rs1179415399 7316-1751 BS_PTYP388A C C c.10667G>A p.Gly3556Glu p.G3556E ENST00000583866 86/90 30 21 9 20 20 0 NBPF10,missense_variant,p.Gly3556Glu,ENST00000583866,NM_001039703.5,NM_001302371.1;NBPF10,missense_variant,p.Gly1000Glu,ENST00000617010,; T ENSG00000271425 ENST00000583866 Transcript missense_variant 10702/13042 10667/11388 3556/3795 G/E gGg/gAg rs1179415399 1 -1 NBPF10 HGNC HGNC:31992 protein_coding YES CCDS76206.1 ENSP00000463957 A0A075B762 UPI00051EF319 NM_001039703.5,NM_001302371.1 tolerated(1) benign(0.006) 86/90 PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF28,Pfam_domain:PF06758,SMART_domains:SM01148 MODERATE 1 SNV 5 PASS CCC . . 1.749e-05 0.0001818 9.729e-06 146069686 C2CD4D . GRCh38 chr1 151838187 151838187 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.803T>G p.Val268Gly p.V268G ENST00000454109 2/2 120 105 8 47 47 0 C2CD4D,missense_variant,p.Val268Gly,ENST00000454109,NM_001136003.1;RF00019,downstream_gene_variant,,ENST00000364264,;AL450992.2,upstream_gene_variant,,ENST00000434182,;,regulatory_region_variant,,ENSR00000013679,; C ENSG00000225556 ENST00000454109 Transcript missense_variant 1389/1757 803/1062 268/353 V/G gTc/gGc 1 -1 C2CD4D HGNC HGNC:37210 protein_coding YES CCDS44224.1 ENSP00000389554 B7Z1M9 UPI0001747AE2 NM_001136003.1 deleterious_low_confidence(0) benign(0.046) 2/2 Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF179,SMART_domains:SM00239,Superfamily_domains:SSF49562,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GAC . . 151838187 TCHH . GRCh38 chr1 152108571 152108571 + Missense_Mutation SNP C C A rs181128140 7316-1751 BS_PTYP388A C C c.4646G>T p.Arg1549Leu p.R1549L ENST00000614923 3/3 72 53 13 42 37 1 TCHH,missense_variant,p.Arg1549Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg1549Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 4741/6995 4646/5832 1549/1943 R/L cGg/cTg rs181128140,COSM4142637,COSM3399703 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.77) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34855 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS CCG . . 152108571 FLG2 . GRCh38 chr1 152351084 152351084 + Missense_Mutation SNP G G T novel 7316-1751 BS_PTYP388A G G c.6702C>A p.His2234Gln p.H2234Q ENST00000388718 3/3 100 79 6 60 60 0 FLG2,missense_variant,p.His2234Gln,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 6775/9124 6702/7176 2234/2391 H/Q caC/caA 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.84) possibly_damaging(0.542) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS AGT . . 152351084 FLG2 . GRCh38 chr1 152351398 152351398 + Nonsense_Mutation SNP T T A novel 7316-1751 BS_PTYP388A T T c.6388A>T p.Arg2130Ter p.R2130* ENST00000388718 3/3 98 74 8 48 45 0 FLG2,stop_gained,p.Arg2130Ter,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript stop_gained 6461/9124 6388/7176 2130/2391 R/* Aga/Tga 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 HIGH SNV 5 1 PASS CTG . . 152351398 CRNN . GRCh38 chr1 152410114 152410114 + Missense_Mutation SNP C C T rs763198493 7316-1751 BS_PTYP388A C C c.968G>A p.Gly323Asp p.G323D ENST00000271835 3/3 87 67 7 53 52 0 CRNN,missense_variant,p.Gly323Asp,ENST00000271835,NM_016190.2;FLG-AS1,intron_variant,,ENST00000411804,;FLG-AS1,downstream_gene_variant,,ENST00000628475,; T ENSG00000143536 ENST00000271835 Transcript missense_variant 1031/1902 968/1488 323/495 G/D gGc/gAc rs763198493,COSM6336281 1 -1 CRNN HGNC HGNC:1230 protein_coding YES CCDS1010.1 ENSP00000271835 Q9UBG3 UPI000006E106 NM_016190.2 tolerated(0.21) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11639:SF26,hmmpanther:PTHR11639 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 152410114 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 113 87 21 48 47 1 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 F5 . GRCh38 chr1 169541161 169541161 + Missense_Mutation SNP G G C rs879158814 7316-1751 BS_PTYP388A G G c.3929C>G p.Thr1310Arg p.T1310R ENST00000367797 13/25 52 43 6 37 34 0 F5,missense_variant,p.Thr1315Arg,ENST00000367796,;F5,missense_variant,p.Thr1310Arg,ENST00000367797,NM_000130.4; C ENSG00000198734 ENST00000367797 Transcript missense_variant 4131/7024 3929/6675 1310/2224 T/R aCa/aGa rs879158814 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(0.09) possibly_damaging(0.462) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199 MODERATE 1 SNV 1 1 PASS TGT . . 169541161 LAMC1 . GRCh38 chr1 183023718 183023718 + Translation_Start_Site SNP T T G novel 7316-1751 BS_PTYP388A T T c.2T>G p.Met1? p.M1? ENST00000258341 1/28 97 80 10 47 46 0 LAMC1,start_lost,p.Met1?,ENST00000258341,NM_002293.3;,regulatory_region_variant,,ENSR00000016778,; G ENSG00000135862 ENST00000258341 Transcript start_lost 259/7889 2/4830 1/1609 M/R aTg/aGg 1 1 LAMC1 HGNC HGNC:6492 protein_coding YES CCDS1351.1 ENSP00000258341 P11047 UPI000013CFC7 NM_002293.3 deleterious_low_confidence(0) benign(0) 1/28 Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257 HIGH 1 SNV 1 PASS ATG . . 183023718 NENF . GRCh38 chr1 212432944 212432944 + Translation_Start_Site SNP A A C novel 7316-1751 BS_PTYP388A A A c.1A>C p.Met1? p.M1? ENST00000366988 1/4 99 87 11 39 39 0 NENF,start_lost,p.Met1?,ENST00000366988,NM_013349.4;NENF,non_coding_transcript_exon_variant,,ENST00000479589,;NENF,upstream_gene_variant,,ENST00000472389,;NENF,upstream_gene_variant,,ENST00000473900,;,regulatory_region_variant,,ENSR00000019704,; C ENSG00000117691 ENST00000366988 Transcript start_lost 58/949 1/519 1/172 M/L Atg/Ctg 1 1 NENF HGNC HGNC:30384 protein_coding YES CCDS1505.1 ENSP00000355955 Q9UMX5 UPI000006E19B NM_013349.4 deleterious_low_confidence(0.05) benign(0.001) 1/4 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF39 HIGH 1 SNV 1 PASS CAT . . 212432944 MAP1LC3C . GRCh38 chr1 241996165 241996165 + Nonstop_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.442T>G p.Ter148GluextTer38 p.*148Eext*38 ENST00000357246 4/4 89 77 10 42 41 0 MAP1LC3C,stop_lost,p.Ter148GluextTer38,ENST00000357246,NM_001004343.2;CFL1P4,downstream_gene_variant,,ENST00000451536,; C ENSG00000197769 ENST00000357246 Transcript stop_lost 507/1182 442/444 148/147 */E Tag/Gag 1 -1 MAP1LC3C HGNC HGNC:13353 protein_coding YES CCDS31074.1 ENSP00000349785 Q9BXW4 UPI0000070E14 NM_001004343.2 4/4 HIGH 1 SNV 1 PASS TAG . . 241996165 APOB . GRCh38 chr2 21009003 21009003 + Missense_Mutation SNP G G C novel 7316-1751 BS_PTYP388A G G c.7865C>G p.Thr2622Arg p.T2622R ENST00000233242 26/29 74 55 17 51 50 0 APOB,missense_variant,p.Thr2622Arg,ENST00000233242,NM_000384.2; C ENSG00000084674 ENST00000233242 Transcript missense_variant 7993/14121 7865/13692 2622/4563 T/R aCa/aGa 1 -1 APOB HGNC HGNC:603 protein_coding YES CCDS1703.1 ENSP00000233242 P04114 UPI0004620B75 NM_000384.2 deleterious(0) probably_damaging(0.999) 26/29 hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1 MODERATE 1 SNV 1 1 PASS TGT . . 21009003 ALK . GRCh38 chr2 29222509 29222509 + Splice_Region SNP C C T novel 7316-1751 BS_PTYP388A C C c.3450+8G>A ENST00000389048 69 53 15 41 40 0 ALK,splice_region_variant,,ENST00000389048,NM_004304.4;ALK,splice_region_variant,,ENST00000453137,;ALK,splice_region_variant,,ENST00000618119,;ALK,splice_region_variant,,ENST00000642122,NM_001353765.1;ALK,splice_region_variant,,ENST00000638605,;ALK,splice_region_variant,,ENST00000431873,; T ENSG00000171094 ENST00000389048 Transcript splice_region_variant,intron_variant 1 -1 ALK HGNC HGNC:427 protein_coding YES CCDS33172.1 ENSP00000373700 Q9UM73 UPI00001684DA NM_004304.4 21/28 LOW 1 SNV 1 1 PASS ACT . . 29222509 PRKD3 . GRCh38 chr2 37274695 37274710 + Splice_Site DEL TTCCTGAAGTAAAAAA TTCCTGAAGTAAAAAA - novel 7316-1751 BS_PTYP388A TTCCTGAAGTAAAAAA TTCCTGAAGTAAAAAA c.1375-13_1377del p.X459_splice ENST00000379066 11/19 77 40 36 52 52 0 PRKD3,splice_acceptor_variant,,ENST00000379066,;PRKD3,splice_acceptor_variant,,ENST00000234179,NM_005813.4;PRKD3,upstream_gene_variant,,ENST00000443977,;PRKD3,upstream_gene_variant,,ENST00000452104,;PRKD3,splice_acceptor_variant,,ENST00000494667,;PRKD3,splice_acceptor_variant,,ENST00000469275,; - ENSG00000115825 ENST00000379066 Transcript splice_acceptor_variant,coding_sequence_variant,intron_variant ?-2140/6111 ?-1377/2673 ?-459/890 1 -1 PRKD3 HGNC HGNC:9408 protein_coding YES CCDS1789.1 ENSP00000368356 O94806 UPI0000035B4D 11/19 10/18 HIGH 1 deletion 5 PASS ATTTCCTGAAGTAAAAAAT . . 37274694 SLC4A5 . GRCh38 chr2 74233530 74233530 + Missense_Mutation SNP G G T novel 7316-1751 BS_PTYP388A G G c.2467C>A p.Pro823Thr p.P823T ENST00000346834 20/29 84 60 21 33 32 1 SLC4A5,missense_variant,p.Pro823Thr,ENST00000394019,NM_133478.2;SLC4A5,missense_variant,p.Pro823Thr,ENST00000346834,NM_021196.3;SLC4A5,missense_variant,p.Pro823Thr,ENST00000423644,;SLC4A5,missense_variant,p.Pro823Thr,ENST00000377634,;SLC4A5,missense_variant,p.Pro721Thr,ENST00000358683,;SLC4A5,missense_variant,p.Pro823Thr,ENST00000377632,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;SLC4A5,missense_variant,p.Pro785Thr,ENST00000425249,;AC006030.1,3_prime_UTR_variant,,ENST00000451608,; T ENSG00000188687 ENST00000346834 Transcript missense_variant 2703/6233 2467/3414 823/1137 P/T Ccc/Acc 1 -1 SLC4A5 HGNC HGNC:18168 protein_coding YES CCDS1936.1 ENSP00000251768 Q9BY07 UPI000013C97B NM_021196.3 deleterious(0) probably_damaging(1) 20/29 hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955 MODERATE 1 SNV 5 PASS GGG . . 74233530 CNOT11 . GRCh38 chr2 101253021 101253021 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.57A>C p.Gln19His p.Q19H ENST00000289382 1/7 68 57 9 47 46 0 CNOT11,missense_variant,p.Gln19His,ENST00000289382,NM_017546.4;TBC1D8,upstream_gene_variant,,ENST00000462819,;TBC1D8,upstream_gene_variant,,ENST00000463469,;TBC1D8,upstream_gene_variant,,ENST00000485851,;,regulatory_region_variant,,ENSR00000120790,; C ENSG00000158435 ENST00000289382 Transcript missense_variant 220/2599 57/1533 19/510 Q/H caA/caC 1 1 CNOT11 HGNC HGNC:25217 protein_coding YES CCDS2050.1 ENSP00000289382 Q9UKZ1 UPI00000715FD NM_017546.4 deleterious_low_confidence(0.03) benign(0.058) 1/7 mobidb-lite MODERATE 1 SNV 1 PASS AAA . . 101253021 RGPD4 . GRCh38 chr2 107871204 107871204 + Missense_Mutation SNP T T A novel 7316-1751 BS_PTYP388A T T c.3200T>A p.Leu1067Gln p.L1067Q ENST00000408999 20/23 60 51 7 57 56 0 RGPD4,missense_variant,p.Leu1067Gln,ENST00000408999,NM_182588.2; A ENSG00000196862 ENST00000408999 Transcript missense_variant 3277/5464 3200/5277 1067/1758 L/Q cTa/cAa 1 1 RGPD4 HGNC HGNC:32417 protein_coding YES CCDS46381.1 ENSP00000386810 Q7Z3J3 UPI0000418FF7 NM_182588.2 deleterious(0) probably_damaging(1) 20/23 PROSITE_profiles:PS50196,cd13177,hmmpanther:PTHR23138:SF87,hmmpanther:PTHR23138,Gene3D:2.30.29.30,Pfam_domain:PF00638,SMART_domains:SM00160,Superfamily_domains:SSF50729 MODERATE 1 SNV 1 PASS CTA . . 107871204 PSD4 . GRCh38 chr2 113182644 113182644 + Missense_Mutation SNP T T G rs747792559 7316-1751 BS_PTYP388A T T c.188T>G p.Val63Gly p.V63G ENST00000245796 2/17 110 91 9 40 38 0 PSD4,missense_variant,p.Val63Gly,ENST00000441564,;PSD4,missense_variant,p.Val63Gly,ENST00000245796,NM_012455.2;PSD4,non_coding_transcript_exon_variant,,ENST00000465917,;PSD4,intron_variant,,ENST00000485525,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000409656,; G ENSG00000125637 ENST00000245796 Transcript missense_variant 383/5188 188/3171 63/1056 V/G gTt/gGt rs747792559 1 1 PSD4 HGNC HGNC:19096 protein_coding YES CCDS33276.1 ENSP00000245796 Q8NDX1 UPI00004A0748 NM_012455.2 tolerated_low_confidence(0.09) benign(0) 2/17 hmmpanther:PTHR45417,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 1.625e-05 3.583e-05 113182644 HOXD11 . GRCh38 chr2 176107578 176107578 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.223T>G p.Tyr75Asp p.Y75D ENST00000249504 1/2 48 32 9 14 14 0 HOXD11,missense_variant,p.Tyr75Asp,ENST00000249504,NM_021192.2;HOXD11,intron_variant,,ENST00000498438,;HOXD10,upstream_gene_variant,,ENST00000490088,;HOXD10,upstream_gene_variant,,ENST00000549469,; G ENSG00000128713 ENST00000249504 Transcript missense_variant 293/1533 223/1017 75/338 Y/D Tac/Gac 1 1 HOXD11 HGNC HGNC:5134 protein_coding YES CCDS2265.1 ENSP00000249504 P31277 UPI000013CC88 NM_021192.2 tolerated(0.86) probably_damaging(0.938) 1/2 Pfam_domain:PF12045,Gene3D:1.10.10.60,hmmpanther:PTHR24326:SF125,hmmpanther:PTHR24326 MODERATE 1 SNV 3 1 PASS GTA . . 176107578 TTN . GRCh38 chr2 178569522 178569522 + Missense_Mutation SNP C C T rs561977468 7316-1751 BS_PTYP388A C C c.76610G>A p.Arg25537His p.R25537H ENST00000589042 326/363 81 56 25 40 39 0 TTN,missense_variant,p.Arg25537His,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Arg23896His,ENST00000591111,;TTN,missense_variant,p.Arg23896His,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Arg22969His,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Arg16472His,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Arg16664His,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Arg16597His,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000630096,; T ENSG00000155657 ENST00000589042 Transcript missense_variant 76835/109224 76610/107976 25537/35991 R/H cGt/cAt rs561977468,COSM2899047,COSM2899046,COSM2899045,COSM2899044 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 benign(0.271) 326/363 Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05748 0.0002 0.0008 likely_benign 0,1,1,1,1 MODERATE SNV 5 1,1,1,1,1 1 PASS ACG . . 0.000143 0.0001965 0.001638 2.706e-05 0.0001842 178569522 TTN . GRCh38 chr2 178652494 178652494 + Missense_Mutation SNP C C G rs758771716 7316-1751 BS_PTYP388A C C c.39091G>C p.Ala13031Pro p.A13031P ENST00000589042 202/363 75 63 9 40 40 0 TTN,missense_variant,p.Ala13031Pro,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ala11524Pro,ENST00000591111,;TTN,missense_variant,p.Ala11524Pro,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ala10597Pro,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; G ENSG00000155657 ENST00000589042 Transcript missense_variant 39316/109224 39091/107976 13031/35991 A/P Gct/Cct rs758771716,COSM6365357,COSM6365356,COSM1293966 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 unknown(0) 202/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 1 PASS GCC . . 178652494 ITGAV . GRCh38 chr2 186640972 186640972 + Splice_Region SNP G G C novel 7316-1751 BS_PTYP388A G G c.956+5G>C ENST00000261023 82 65 17 52 52 0 ITGAV,splice_region_variant,,ENST00000261023,NM_002210.4;ITGAV,splice_region_variant,,ENST00000374907,NM_001145000.2;ITGAV,splice_region_variant,,ENST00000433736,NM_001144999.2;AC017101.1,downstream_gene_variant,,ENST00000453665,; C ENSG00000138448 ENST00000261023 Transcript splice_region_variant,intron_variant 1 1 ITGAV HGNC HGNC:6150 protein_coding YES CCDS2292.1 ENSP00000261023 P06756 L7RXH0 UPI000013D12E NM_002210.4 11/29 LOW 1 SNV 1 1 PASS AGT . . 186640972 CROCC2 . GRCh38 chr2 240918884 240918884 + Splice_Region SNP T T C rs541829039 7316-1751 BS_PTYP388A T T c.229+8T>C ENST00000443866 68 50 8 33 31 1 CROCC2,splice_region_variant,,ENST00000443866,NM_001351305.1; C ENSG00000226321 ENST00000443866 Transcript splice_region_variant,intron_variant rs541829039 1 1 CROCC2 HGNC HGNC:51677 protein_coding YES ENSP00000397968 H7BZ55 UPI0004F2364A NM_001351305.1 2/31 0.0024 0.0045 0.001 0.002 0.0031 LOW 1 SNV 5 PASS GTG . . 0.001093 0.001079 0.001106 0.0001731 0.0007835 0.0002963 0.0006344 0.0007294 0.003181 240918884 PLCL2 . GRCh38 chr3 16885112 16885112 + Missense_Mutation SNP A A C rs1349478641 7316-1751 BS_PTYP388A A A c.73A>C p.Lys25Gln p.K25Q ENST00000615277 1/6 99 81 10 43 43 0 PLCL2,missense_variant,p.Lys25Gln,ENST00000615277,NM_001144382.1;PLCL2,intron_variant,,ENST00000460467,;,regulatory_region_variant,,ENSR00000149313,; C ENSG00000154822 ENST00000615277 Transcript missense_variant 154/4147 73/3384 25/1127 K/Q Aag/Cag rs1349478641 1 1 PLCL2 HGNC HGNC:9064 protein_coding YES CCDS74911.1 ENSP00000478458 Q9UPR0 UPI0000242D01 NM_001144382.1 tolerated_low_confidence(0.23) benign(0.403) 1/6 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CAA . . 16885112 EXOSC7 . GRCh38 chr3 45005322 45005322 + Missense_Mutation SNP G G A novel 7316-1751 BS_PTYP388A G G c.523G>A p.Glu175Lys p.E175K ENST00000265564 6/8 76 50 24 36 36 0 EXOSC7,missense_variant,p.Glu175Lys,ENST00000265564,NM_015004.3;EXOSC7,non_coding_transcript_exon_variant,,ENST00000461361,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000491476,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000468667,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000482004,;EXOSC7,intron_variant,,ENST00000481405,;CLEC3B,intron_variant,,ENST00000490386,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000486727,;EXOSC7,downstream_gene_variant,,ENST00000467846,; A ENSG00000075914 ENST00000265564 Transcript missense_variant 571/1055 523/876 175/291 E/K Gag/Aag 1 1 EXOSC7 HGNC HGNC:28112 protein_coding YES CCDS2725.1 ENSP00000265564 Q15024 A0A024R2P7 UPI000020A5E9 NM_015004.3 tolerated(0.39) benign(0.044) 6/8 PDB-ENSP_mappings:2nn6.E,Gene3D:3.30.230.70,hmmpanther:PTHR11097,hmmpanther:PTHR11097:SF8,cd11367 MODERATE 1 SNV 1 PASS AGA . . 45005322 NBEAL2 . GRCh38 chr3 47005848 47005848 + Splice_Site SNP G G C novel 7316-1751 BS_PTYP388A G G c.6801+1G>C p.X2267_splice ENST00000450053 71 50 20 40 40 0 NBEAL2,splice_donor_variant,,ENST00000416683,;NBEAL2,splice_donor_variant,,ENST00000423436,;NBEAL2,splice_donor_variant,,ENST00000443829,;NBEAL2,splice_donor_variant,,ENST00000450053,NM_015175.2;NRADDP,upstream_gene_variant,,ENST00000641269,;NBEAL2,splice_donor_variant,,ENST00000486870,;NBEAL2,downstream_gene_variant,,ENST00000441027,;NBEAL2,upstream_gene_variant,,ENST00000461036,;NBEAL2,upstream_gene_variant,,ENST00000469349,;NBEAL2,downstream_gene_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000476095,;NBEAL2,upstream_gene_variant,,ENST00000477412,; C ENSG00000160796 ENST00000450053 Transcript splice_donor_variant 1 1 NBEAL2 HGNC HGNC:31928 protein_coding YES CCDS46817.1 ENSP00000415034 Q6ZNJ1 UPI000022C020 NM_015175.2 42/53 HIGH 1 SNV 2 1 PASS GGT . . 47005848 CNTN3 . GRCh38 chr3 74285409 74285409 + Missense_Mutation SNP C T T rs143021649 7316-1751 BS_PTYP388A C C c.2600G>A p.Arg867Gln p.R867Q ENST00000263665 19/22 51 7 44 35 27 8 CNTN3,missense_variant,p.Arg867Gln,ENST00000263665,NM_020872.2; T ENSG00000113805 ENST00000263665 Transcript missense_variant 2628/4948 2600/3087 867/1028 R/Q cGg/cAg rs143021649 1 -1 CNTN3 HGNC HGNC:2173 protein_coding YES CCDS33790.1 ENSP00000263665 Q9P232 UPI00001A7974 NM_020872.2 tolerated(0.11) benign(0.015) 19/22 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR43905,hmmpanther:PTHR43905:SF8,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 0.0230 0.0008 0.0202 0.001 0.0388 0.0613 0.00749 0.03535 MODERATE 1 SNV 1 PASS CCG . . 0.03175 0.006023 0.01615 0.04162 0.0004661 0.02535 0.03485 0.03375 0.06895 74285409 BTLA . GRCh38 chr3 112471242 112471243 + Frame_Shift_Del DEL AG AG - novel 7316-1751 BS_PTYP388A AG AG c.516_517del p.Phe172LeufsTer15 p.F172Lfs*15 ENST00000334529 3/5 62 21 38 36 36 0 BTLA,frameshift_variant,p.Phe172LeufsTer15,ENST00000334529,NM_181780.3;BTLA,intron_variant,,ENST00000383680,NM_001085357.1;BTLA,upstream_gene_variant,,ENST00000474965,;BTLA,upstream_gene_variant,,ENST00000496584,;,regulatory_region_variant,,ENSR00000156561,; - ENSG00000186265 ENST00000334529 Transcript frameshift_variant 719-720/3213 516-517/870 172-173/289 FC/LX ttCTgc/ttgc 1 -1 BTLA HGNC HGNC:21087 protein_coding YES CCDS33819.1 ENSP00000333919 Q7Z6A9 UPI0000209F49 NM_181780.3 3/5 hmmpanther:PTHR37996,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg HIGH 1 deletion 1 PASS GCAGA . . 112471241 TSC22D2 . GRCh38 chr3 150410333 150410333 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.983A>C p.Asn328Thr p.N328T ENST00000361875 1/4 101 91 9 44 44 0 TSC22D2,missense_variant,p.Asn328Thr,ENST00000361875,NM_014779.3;TSC22D2,upstream_gene_variant,,ENST00000466814,NM_001303264.1;TSC22D2,upstream_gene_variant,,ENST00000480589,;TSC22D2,upstream_gene_variant,,ENST00000485421,;,regulatory_region_variant,,ENSR00000160135,; C ENSG00000196428 ENST00000361875 Transcript missense_variant 1999/11154 983/2343 328/780 N/T aAt/aCt 1 1 TSC22D2 HGNC HGNC:29095 protein_coding YES CCDS3149.1 ENSP00000354543 O75157 UPI00000722E0 NM_014779.3 deleterious(0.03) benign(0) 1/4 hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF17,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 150410333 IQCJ-SCHIP1 . GRCh38 chr3 159764867 159764867 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.716A>C p.Asn239Thr p.N239T ENST00000485419 5/11 54 40 6 34 32 0 IQCJ-SCHIP1,missense_variant,p.Asn163Thr,ENST00000638749,NM_014575.3;IQCJ-SCHIP1,missense_variant,p.Asn239Thr,ENST00000485419,NM_001197113.1;IQCJ-SCHIP1,missense_variant,p.Asn163Thr,ENST00000412423,NM_001197107.1;IQCJ-SCHIP1,missense_variant,p.Asn136Thr,ENST00000460298,;IQCJ-SCHIP1,missense_variant,p.Asn212Thr,ENST00000476809,NM_001197114.1;IQCJ-SCHIP1,missense_variant,p.Asn136Thr,ENST00000640565,;IQCJ-SCHIP1,missense_variant,p.Asn136Thr,ENST00000639448,;IQCJ-SCHIP1,intron_variant,,ENST00000527095,NM_001197108.1;IQCJ-SCHIP1,upstream_gene_variant,,ENST00000638311,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000639298,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000639631,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000639979,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000640015,;IQCJ-SCHIP1-AS1,downstream_gene_variant,,ENST00000460574,;IQCJ-SCHIP1-AS1,downstream_gene_variant,,ENST00000488247,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000639147,;,regulatory_region_variant,,ENSR00000161123,; C ENSG00000283154 ENST00000485419 Transcript missense_variant 885/2445 716/1692 239/563 N/T aAt/aCt 1 1 IQCJ-SCHIP1 HGNC HGNC:38842 protein_coding YES CCDS56289.1 ENSP00000420182 B3KU38 UPI0000E5AA62 NM_001197113.1 deleterious_low_confidence(0) probably_damaging(0.993) 5/11 Gene3D:1.20.5.340,hmmpanther:PTHR13103,hmmpanther:PTHR13103:SF3,mobidb-lite MODERATE 1 SNV 2 PASS AAT . . 159764867 YEATS2 . GRCh38 chr3 183747706 183747706 + Missense_Mutation SNP G G C novel 7316-1751 BS_PTYP388A G G c.959G>C p.Gly320Ala p.G320A ENST00000305135 9/31 46 17 26 51 51 0 YEATS2,missense_variant,p.Gly320Ala,ENST00000305135,NM_018023.4,NM_001351369.1,NM_001351370.1; C ENSG00000163872 ENST00000305135 Transcript missense_variant 1154/6506 959/4269 320/1422 G/A gGa/gCa 1 1 YEATS2 HGNC HGNC:25489 protein_coding YES CCDS43175.1 ENSP00000306983 Q9ULM3 UPI00001BB2B9 NM_018023.4,NM_001351369.1,NM_001351370.1 deleterious(0.01) probably_damaging(0.987) 9/31 PDB-ENSP_mappings:5iql.A,PDB-ENSP_mappings:5xnv.A,hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7 MODERATE 1 SNV 1 PASS GGA . . 183747706 MUC4 . GRCh38 chr3 195782338 195782338 + Missense_Mutation SNP G G A rs79077485 7316-1751 BS_PTYP388A G G c.9242C>T p.Ala3081Val p.A3081V ENST00000463781 2/25 79 63 10 70 62 0 MUC4,missense_variant,p.Ala3081Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3081Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3081Val,ENST00000478156,;MUC4,missense_variant,p.Ala3081Val,ENST00000466475,;MUC4,missense_variant,p.Ala3081Val,ENST00000477756,;MUC4,missense_variant,p.Ala3081Val,ENST00000477086,;MUC4,missense_variant,p.Ala3081Val,ENST00000480843,;MUC4,missense_variant,p.Ala3081Val,ENST00000462323,;MUC4,missense_variant,p.Ala3081Val,ENST00000470451,;MUC4,missense_variant,p.Ala3081Val,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 9702/17110 9242/16239 3081/5412 A/V gCa/gTa rs79077485,COSM4157657 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.39) possibly_damaging(0.494) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TGC . . 0.0003142 0.000305 0.001859 0.0002643 195782338 UGT2B17 . GRCh38 chr4 68567982 68567982 + Missense_Mutation SNP G G T rs768734870 7316-1751 BS_PTYP388A G G c.503C>A p.Pro168His p.P168H ENST00000317746 1/6 49 28 21 18 18 0 UGT2B17,missense_variant,p.Pro168His,ENST00000317746,NM_001077.3; T ENSG00000197888 ENST00000317746 Transcript missense_variant 546/2077 503/1593 168/530 P/H cCc/cAc rs768734870 1 -1 UGT2B17 HGNC HGNC:12547 protein_coding YES CCDS3523.1 ENSP00000320401 O75795 UPI0000137A9C NM_001077.3 deleterious(0) probably_damaging(0.998) 1/6 Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF178,Superfamily_domains:SSF53756,cd03784 MODERATE 1 SNV 1 1 PASS GGG . . 3.015e-05 6.021e-05 68567982 MUC7 . GRCh38 chr4 70481636 70481636 + Missense_Mutation SNP C C T rs41396247 7316-1751 BS_PTYP388A C C c.892C>T p.Pro298Ser p.P298S ENST00000413702 4/4 51 41 5 44 43 0 MUC7,missense_variant,p.Pro298Ser,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Pro298Ser,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Pro298Ser,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,; T ENSG00000171195 ENST00000413702 Transcript missense_variant 1180/2540 892/1134 298/377 P/S Cca/Tca rs41396247,COSM5797968 1 1 MUC7 HGNC HGNC:7518 protein_coding YES CCDS3541.1 ENSP00000407422 Q8TAX7 UPI000013E9DD NM_001145006.1 tolerated(0.95) benign(0.007) 4/4 hmmpanther:PTHR41683,mobidb-lite,Low_complexity_(Seg):seg 0.0146 0.0545 0.0014 0.03268 0,1 MODERATE 1 SNV 4 0,1 1 PASS CCC . . 0.0004668 0.007841 8.961e-05 70481636 GK2 . GRCh38 chr4 79406552 79406552 + Missense_Mutation SNP G G A rs536094689 7316-1751 BS_PTYP388A G G c.1649C>T p.Ser550Leu p.S550L ENST00000358842 1/1 51 23 28 30 30 0 GK2,missense_variant,p.Ser550Leu,ENST00000358842,NM_033214.2; A ENSG00000196475 ENST00000358842 Transcript missense_variant 1742/1942 1649/1662 550/553 S/L tCg/tTg rs536094689 1 -1 GK2 HGNC HGNC:4291 protein_coding YES CCDS3585.1 ENSP00000351706 Q14410 A0A140VKG0 UPI000011E629 NM_033214.2 deleterious_low_confidence(0) benign(0.154) 1/1 0.0002 0.001 MODERATE 1 SNV 1 PASS CGA . . 1.225e-05 4.503e-05 9.02e-06 3.264e-05 79406552 TBCK . GRCh38 chr4 106247276 106247276 + Missense_Mutation SNP T T C novel 7316-1751 BS_PTYP388A T T c.794A>G p.Asp265Gly p.D265G ENST00000273980 11/27 40 18 22 45 44 0 TBCK,missense_variant,p.Asp265Gly,ENST00000273980,;TBCK,missense_variant,p.Asp265Gly,ENST00000432496,NM_001163436.2;TBCK,missense_variant,p.Asp226Gly,ENST00000394706,NM_001163437.2;TBCK,missense_variant,p.Asp202Gly,ENST00000361687,NM_033115.4,NM_001290768.1;TBCK,missense_variant,p.Asp265Gly,ENST00000394708,NM_001163435.2;TBCK,downstream_gene_variant,,ENST00000509532,;TBCK,downstream_gene_variant,,ENST00000506280,;TBCK,missense_variant,p.Asp4Gly,ENST00000508666,;TBCK,missense_variant,p.Ile23Val,ENST00000505574,;TBCK,3_prime_UTR_variant,,ENST00000467183,;TBCK,non_coding_transcript_exon_variant,,ENST00000510927,;TBCK,downstream_gene_variant,,ENST00000503832,; C ENSG00000145348 ENST00000273980 Transcript missense_variant 1242/8101 794/2682 265/893 D/G gAt/gGt 1 -1 TBCK HGNC HGNC:28261 protein_coding YES CCDS54788.1 ENSP00000273980 Q8TEA7 UPI000013EF70 tolerated(0.38) benign(0) 11/27 Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF168,Superfamily_domains:SSF56112 MODERATE 1 SNV 5 1 PASS ATC . . 106247276 DDX60 . GRCh38 chr4 168280365 168280365 + Missense_Mutation SNP C C A novel 7316-1751 BS_PTYP388A C C c.1948G>T p.Ala650Ser p.A650S ENST00000393743 14/38 71 52 16 49 49 0 DDX60,missense_variant,p.Ala650Ser,ENST00000393743,NM_017631.5; A ENSG00000137628 ENST00000393743 Transcript missense_variant 2240/6071 1948/5139 650/1712 A/S Gcc/Tcc 1 -1 DDX60 HGNC HGNC:25942 protein_coding YES CCDS34097.1 ENSP00000377344 Q8IY21 UPI000020B6AB NM_017631.5 tolerated(0.1) possibly_damaging(0.656) 14/38 hmmpanther:PTHR44533,hmmpanther:PTHR44533:SF3,Gene3D:3.40.50.300 MODERATE 1 SNV 1 PASS GCT . . 168280365 SAP30 . GRCh38 chr4 173371283 173371283 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.101A>C p.Asn34Thr p.N34T ENST00000296504 1/4 47 38 7 26 25 1 SAP30,missense_variant,p.Asn34Thr,ENST00000296504,NM_003864.3;AC097534.2,upstream_gene_variant,,ENST00000608794,;AC097534.2,upstream_gene_variant,,ENST00000608892,;AC097534.2,upstream_gene_variant,,ENST00000609153,;AC097534.2,upstream_gene_variant,,ENST00000609900,;SAP30,downstream_gene_variant,,ENST00000504618,;,regulatory_region_variant,,ENSR00000176229,; C ENSG00000164105 ENST00000296504 Transcript missense_variant 341/1108 101/663 34/220 N/T aAc/aCc 1 1 SAP30 HGNC HGNC:10532 protein_coding YES CCDS3817.1 ENSP00000296504 O75446 UPI000006F36D NM_003864.3 tolerated_low_confidence(0.28) benign(0.003) 1/4 Low_complexity_(Seg):seg,hmmpanther:PTHR13286,hmmpanther:PTHR13286:SF7 MODERATE 1 SNV 1 PASS AAC . . 173371283 CASP3 . GRCh38 chr4 184631060 184631062 + In_Frame_Del DEL AAG AAG - novel 7316-1751 BS_PTYP388A AAG AAG c.579_581del p.Phe193del p.F193del ENST00000308394 7/8 73 55 15 31 31 0 CASP3,inframe_deletion,p.Phe193del,ENST00000308394,NM_004346.3,NM_001354778.1,NM_001354780.1,NM_001354777.1;CASP3,inframe_deletion,p.Phe193del,ENST00000523916,NM_032991.2,NM_001354779.1;CASP3,intron_variant,,ENST00000393585,NM_001354783.1;CASP3,intron_variant,,ENST00000393588,;CASP3,intron_variant,,ENST00000517513,;CASP3,downstream_gene_variant,,ENST00000447121,; - ENSG00000164305 ENST00000308394 Transcript inframe_deletion 842-844/2673 579-581/834 193-194/277 FL/L ttCTTg/ttg 1 -1 CASP3 HGNC HGNC:1504 protein_coding YES CCDS3836.1 ENSP00000311032 P42574 UPI000000D90B NM_004346.3,NM_001354778.1,NM_001354780.1,NM_001354777.1 7/8 PDB-ENSP_mappings:1cp3.A,PDB-ENSP_mappings:1cp3.B,PDB-ENSP_mappings:1gfw.B,PDB-ENSP_mappings:1i3o.B,PDB-ENSP_mappings:1i3o.D,PDB-ENSP_mappings:1nme.B,PDB-ENSP_mappings:1nmq.A,PDB-ENSP_mappings:1nmq.B,PDB-ENSP_mappings:1nms.A,PDB-ENSP_mappings:1nms.B,PDB-ENSP_mappings:1pau.B,PDB-ENSP_mappings:1qx3.A,PDB-ENSP_mappings:1re1.B,PDB-ENSP_mappings:1rhj.B,PDB-ENSP_mappings:1rhj.D,PDB-ENSP_mappings:1rhk.B,PDB-ENSP_mappings:1rhm.B,PDB-ENSP_mappings:1rhm.D,PDB-ENSP_mappings:1rhq.B,PDB-ENSP_mappings:1rhq.E,PDB-ENSP_mappings:1rhr.B,PDB-ENSP_mappings:1rhu.B,PDB-ENSP_mappings:2c1e.B,PDB-ENSP_mappings:2c2k.B,PDB-ENSP_mappings:2c2m.B,PDB-ENSP_mappings:2c2o.B,PDB-ENSP_mappings:2cdr.B,PDB-ENSP_mappings:2cjx.B,PDB-ENSP_mappings:2cjy.B,PDB-ENSP_mappings:2cnk.B,PDB-ENSP_mappings:2cnl.B,PDB-ENSP_mappings:2cnn.B,PDB-ENSP_mappings:2cno.B,PDB-ENSP_mappings:2dko.B,PDB-ENSP_mappings:2h5i.B,PDB-ENSP_mappings:2h5j.B,PDB-ENSP_mappings:2h5j.D,PDB-ENSP_mappings:2h65.B,PDB-ENSP_mappings:2h65.D,PDB-ENSP_mappings:2j30.A,PDB-ENSP_mappings:2j31.A,PDB-ENSP_mappings:2j32.A,PDB-ENSP_mappings:2j33.A,PDB-ENSP_mappings:2xyg.B,PDB-ENSP_mappings:2xyh.B,PDB-ENSP_mappings:2xyp.B,PDB-ENSP_mappings:2xzd.B,PDB-ENSP_mappings:2xzd.D,PDB-ENSP_mappings:2xzt.B,PDB-ENSP_mappings:2xzt.D,PDB-ENSP_mappings:2y0b.B,PDB-ENSP_mappings:2y0b.D,Gene3D:3.30.70.1470,PDB-ENSP_mappings:3deh.A,PDB-ENSP_mappings:3deh.B,PDB-ENSP_mappings:3deh.C,PDB-ENSP_mappings:3deh.D,PDB-ENSP_mappings:3dei.A,PDB-ENSP_mappings:3dei.B,PDB-ENSP_mappings:3dei.C,PDB-ENSP_mappings:3dei.D,PDB-ENSP_mappings:3dej.A,PDB-ENSP_mappings:3dej.B,PDB-ENSP_mappings:3dej.C,PDB-ENSP_mappings:3dej.D,PDB-ENSP_mappings:3dek.A,PDB-ENSP_mappings:3dek.B,PDB-ENSP_mappings:3dek.C,PDB-ENSP_mappings:3dek.D,PDB-ENSP_mappings:3edq.B,PDB-ENSP_mappings:3edq.D,PDB-ENSP_mappings:3gjq.B,PDB-ENSP_mappings:3gjq.D,PDB-ENSP_mappings:3gjr.B,PDB-ENSP_mappings:3gjr.D,PDB-ENSP_mappings:3gjs.B,PDB-ENSP_mappings:3gjs.D,PDB-ENSP_mappings:3gjt.B,PDB-ENSP_mappings:3gjt.D,PDB-ENSP_mappings:3h0e.A,PDB-ENSP_mappings:3h0e.B,PDB-ENSP_mappings:3itn.A,PDB-ENSP_mappings:3kjf.B,PDB-ENSP_mappings:3pcx.A,PDB-ENSP_mappings:3pd0.A,PDB-ENSP_mappings:3pd1.A,PDB-ENSP_mappings:4dcj.B,PDB-ENSP_mappings:4dcj.E,PDB-ENSP_mappings:4dco.B,PDB-ENSP_mappings:4dco.E,PDB-ENSP_mappings:4dcp.B,PDB-ENSP_mappings:4dcp.E,PDB-ENSP_mappings:4eha.A,PDB-ENSP_mappings:4eha.C,PDB-ENSP_mappings:4ehd.A,PDB-ENSP_mappings:4ehf.A,PDB-ENSP_mappings:4ehh.A,PDB-ENSP_mappings:4ehk.A,PDB-ENSP_mappings:4ehk.C,PDB-ENSP_mappings:4ehl.A,PDB-ENSP_mappings:4ehl.C,PDB-ENSP_mappings:4ehn.A,PDB-ENSP_mappings:4jje.A,PDB-ENSP_mappings:4jqy.A,PDB-ENSP_mappings:4jqy.B,PDB-ENSP_mappings:4jqz.A,PDB-ENSP_mappings:4jqz.B,PDB-ENSP_mappings:4jr0.A,PDB-ENSP_mappings:4jr0.B,PDB-ENSP_mappings:4pry.A,PDB-ENSP_mappings:4ps0.A,PDB-ENSP_mappings:4ps0.B,PDB-ENSP_mappings:4qtx.A,PDB-ENSP_mappings:4qty.A,PDB-ENSP_mappings:4qu0.A,PDB-ENSP_mappings:4qu5.A,PDB-ENSP_mappings:4qu8.A,PDB-ENSP_mappings:4qu9.A,PDB-ENSP_mappings:4qua.A,PDB-ENSP_mappings:4qub.A,PDB-ENSP_mappings:4qud.A,PDB-ENSP_mappings:4qud.B,PDB-ENSP_mappings:4que.A,PDB-ENSP_mappings:4que.C,PDB-ENSP_mappings:4qug.A,PDB-ENSP_mappings:4qug.C,PDB-ENSP_mappings:4quh.A,PDB-ENSP_mappings:4quh.C,PDB-ENSP_mappings:4qui.A,PDB-ENSP_mappings:4qui.B,PDB-ENSP_mappings:4quj.A,PDB-ENSP_mappings:4qul.A,PDB-ENSP_mappings:4qul.C,PDB-ENSP_mappings:5i9b.A,PDB-ENSP_mappings:5i9t.A,PDB-ENSP_mappings:5i9t.C,PDB-ENSP_mappings:5iab.A,PDB-ENSP_mappings:5iab.C,PDB-ENSP_mappings:5iae.A,PDB-ENSP_mappings:5iae.C,PDB-ENSP_mappings:5iag.A,PDB-ENSP_mappings:5iaj.A,PDB-ENSP_mappings:5iak.A,PDB-ENSP_mappings:5ian.A,PDB-ENSP_mappings:5iar.A,PDB-ENSP_mappings:5ias.A,PDB-ENSP_mappings:5ibc.A,PDB-ENSP_mappings:5ibp.A,PDB-ENSP_mappings:5ibr.A,PDB-ENSP_mappings:5ibr.C,PDB-ENSP_mappings:5ic4.B,PDB-ENSP_mappings:5ic4.D,PDB-ENSP_mappings:5ic4.F,PDB-ENSP_mappings:5ic4.H,Pfam_domain:PF00656,PROSITE_profiles:PS50207,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF31,SMART_domains:SM00115,Superfamily_domains:SSF52129,cd00032 MODERATE 1 deletion 1 1 PASS ACAAGA . . 184631059 LINC02145 . GRCh38 chr5 6312723 6312723 + Splice_Region SNP T T A novel 7316-1751 BS_PTYP388A T T n.144-7A>T ENST00000507444 79 59 10 49 49 0 LINC02145,splice_region_variant,,ENST00000507444,; A ENSG00000250490 ENST00000507444 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 LINC02145 HGNC HGNC:53005 lincRNA YES 1/1 LOW 1 SNV 1 PASS GTG . . 6312723 PRDM9 . GRCh38 chr5 23526794 23526794 + Missense_Mutation SNP T T G 7316-1751 BS_PTYP388A T T c.1706T>G p.Ile569Ser p.I569S ENST00000296682 11/11 95 67 6 39 35 0 PRDM9,missense_variant,p.Ile569Ser,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,; G ENSG00000164256 ENST00000296682 Transcript missense_variant 1888/3691 1706/2685 569/894 I/S aTt/aGt COSM6233137 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(0.8) benign(0.006) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.40.10,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS ATT . . 23526794 CAST . GRCh38 chr5 96662493 96662493 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.71A>C p.His24Pro p.H24P ENST00000395812 1/30 97 79 12 59 59 0 CAST,missense_variant,p.His24Pro,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Pro,ENST00000508830,;CAST,missense_variant,p.His24Pro,ENST00000510756,;CAST,missense_variant,p.His24Pro,ENST00000511097,;CAST,missense_variant,p.His24Pro,ENST00000421689,;CAST,missense_variant,p.His7Pro,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; C ENSG00000153113 ENST00000395812 Transcript missense_variant 257/4506 71/2253 24/750 H/P cAt/cCt 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 deleterious_low_confidence(0.02) benign(0.003) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS CAT . . 96662493 TCF7 . GRCh38 chr5 134114907 134114907 + Translation_Start_Site SNP A A C novel 7316-1751 BS_PTYP388A A A c.1A>C p.Met1? p.M1? ENST00000342854 1/10 40 29 6 37 34 2 TCF7,start_lost,p.Met1?,ENST00000395029,;TCF7,start_lost,p.Met1?,ENST00000342854,NM_003202.3;TCF7,upstream_gene_variant,,ENST00000378560,NM_201634.3;TCF7,upstream_gene_variant,,ENST00000395023,NM_213648.3,NM_201632.3;TCF7,upstream_gene_variant,,ENST00000517851,;TCF7,upstream_gene_variant,,ENST00000518887,;TCF7,upstream_gene_variant,,ENST00000518915,NM_001134851.2;TCF7,upstream_gene_variant,,ENST00000520958,;TCF7,upstream_gene_variant,,ENST00000521639,;TCF7,upstream_gene_variant,,ENST00000522375,;TCF7,upstream_gene_variant,,ENST00000517741,;TCF7,upstream_gene_variant,,ENST00000519165,;TCF7,upstream_gene_variant,,ENST00000519447,;TCF7,upstream_gene_variant,,ENST00000520652,;TCF7,upstream_gene_variant,,ENST00000522653,;,regulatory_region_variant,,ENSR00000187040,; C ENSG00000081059 ENST00000342854 Transcript start_lost 197/3045 1/1155 1/384 M/L Atg/Ctg 1 1 TCF7 HGNC HGNC:11639 protein_coding YES CCDS4169.1 ENSP00000340347 P36402 UPI000006230C NM_003202.3 deleterious(0) possibly_damaging(0.658) 1/10 Gene3D:4.10.900.10,Pfam_domain:PF08347,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF33,mobidb-lite HIGH 1 SNV 1 PASS CAT . . 134114907 PROB1 . GRCh38 chr5 139394454 139394454 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.628A>C p.Ile210Leu p.I210L ENST00000434752 1/1 79 69 6 52 52 0 PROB1,missense_variant,p.Ile210Leu,ENST00000434752,NM_001161546.1;SPATA24,downstream_gene_variant,,ENST00000302091,;MZB1,upstream_gene_variant,,ENST00000302125,NM_016459.3;SPATA24,downstream_gene_variant,,ENST00000450845,NM_194296.1;SPATA24,downstream_gene_variant,,ENST00000512761,;SPATA24,downstream_gene_variant,,ENST00000514983,;MZB1,upstream_gene_variant,,ENST00000417694,;MZB1,upstream_gene_variant,,ENST00000503120,;MZB1,upstream_gene_variant,,ENST00000503351,;MZB1,upstream_gene_variant,,ENST00000503481,;MZB1,upstream_gene_variant,,ENST00000509591,;MZB1,upstream_gene_variant,,ENST00000513389,; G ENSG00000228672 ENST00000434752 Transcript missense_variant 1260/5122 628/3048 210/1015 I/L Atc/Ctc 1 -1 PROB1 HGNC HGNC:41906 protein_coding YES CCDS54909.1 ENSP00000416033 E7EW31 UPI00001974A9 NM_001161546.1 deleterious_low_confidence(0) possibly_damaging(0.876) 1/1 hmmpanther:PTHR33775,hmmpanther:PTHR33775:SF1,mobidb-lite MODERATE SNV PASS ATC . . 139394454 TCOF1 . GRCh38 chr5 150374984 150374984 + Missense_Mutation SNP A A G rs1426165570 7316-1751 BS_PTYP388A A A c.1309A>G p.Arg437Gly p.R437G ENST00000377797 10/27 78 68 6 54 53 1 TCOF1,missense_variant,p.Arg437Gly,ENST00000377797,NM_001135243.1;TCOF1,missense_variant,p.Arg437Gly,ENST00000642994,;TCOF1,missense_variant,p.Arg437Gly,ENST00000643257,;TCOF1,missense_variant,p.Arg360Gly,ENST00000323668,NM_000356.3;TCOF1,missense_variant,p.Arg360Gly,ENST00000445265,NM_001135245.1;TCOF1,missense_variant,p.Arg437Gly,ENST00000427724,NM_001195141.1;TCOF1,missense_variant,p.Arg437Gly,ENST00000513346,;TCOF1,missense_variant,p.Arg437Gly,ENST00000439160,NM_001135244.1;TCOF1,missense_variant,p.Arg437Gly,ENST00000504761,;TCOF1,missense_variant,p.Arg437Gly,ENST00000513538,;TCOF1,missense_variant,p.Arg437Gly,ENST00000394269,NM_001008657.2;TCOF1,missense_variant,p.Arg289Gly,ENST00000646961,;TCOF1,intron_variant,,ENST00000515516,;TCOF1,upstream_gene_variant,,ENST00000506063,;TCOF1,non_coding_transcript_exon_variant,,ENST00000515035,;TCOF1,non_coding_transcript_exon_variant,,ENST00000514442,;TCOF1,upstream_gene_variant,,ENST00000506767,;TCOF1,downstream_gene_variant,,ENST00000643812,; G ENSG00000070814 ENST00000377797 Transcript missense_variant 1417/5095 1309/4467 437/1488 R/G Aga/Gga rs1426165570 1 1 TCOF1 HGNC HGNC:11654 protein_coding YES CCDS54936.1 ENSP00000367028 Q13428 UPI0000EE3736 NM_001135243.1 deleterious(0.04) possibly_damaging(0.481) 10/27 Pfam_domain:PF03546,hmmpanther:PTHR20787,mobidb-lite MODERATE 1 SNV 5 1 PASS CAG . . 150374984 SLIT3 . GRCh38 chr5 168671474 168671474 + Missense_Mutation SNP G G T novel 7316-1751 BS_PTYP388A G G c.3872C>A p.Thr1291Asn p.T1291N ENST00000332966 34/36 61 44 16 44 43 0 SLIT3,missense_variant,p.Thr1284Asn,ENST00000519560,NM_003062.3;SLIT3,missense_variant,p.Thr1154Asn,ENST00000404867,;SLIT3,missense_variant,p.Thr1291Asn,ENST00000332966,NM_001271946.1;AC011365.2,downstream_gene_variant,,ENST00000520041,; T ENSG00000184347 ENST00000332966 Transcript missense_variant 3945/4895 3872/4593 1291/1530 T/N aCc/aAc 1 -1 SLIT3 HGNC HGNC:11087 protein_coding YES CCDS64311.1 ENSP00000332164 O75094 UPI0001E8F75D NM_001271946.1 tolerated(0.48) possibly_damaging(0.882) 34/36 Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,SMART_domains:SM00282,Superfamily_domains:SSF49899,cd00110 MODERATE 1 SNV 1 PASS GGT . . 168671474 ADAMTS2 . GRCh38 chr5 179124969 179124969 + Splice_Region SNP G G T 7316-1751 BS_PTYP388A G G c.2958+4C>A ENST00000251582 63 49 9 31 31 0 ADAMTS2,splice_region_variant,,ENST00000251582,NM_014244.4;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;ADAMTS2,upstream_gene_variant,,ENST00000523450,; T ENSG00000087116 ENST00000251582 Transcript splice_region_variant,intron_variant COSM6235226 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 19/21 1 LOW 1 SNV 1 1 1 PASS CGT . . 179124969 RANBP9 . GRCh38 chr6 13711271 13711271 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.235A>C p.Thr79Pro p.T79P ENST00000011619 1/14 43 30 8 39 38 0 RANBP9,missense_variant,p.Thr79Pro,ENST00000011619,NM_005493.2;,regulatory_region_variant,,ENSR00000193498,;,TF_binding_site_variant,,PB0010.1,; G ENSG00000010017 ENST00000011619 Transcript missense_variant 294/3113 235/2190 79/729 T/P Acc/Ccc 1 -1 RANBP9 HGNC HGNC:13727 protein_coding YES CCDS4529.1 ENSP00000011619 Q96S59 A0A024QZW3 UPI000006ED83 NM_005493.2 deleterious_low_confidence(0.05) benign(0.01) 1/14 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS GTG . . 13711271 MDC1 . GRCh38 chr6 30704643 30704643 + Missense_Mutation SNP T T C rs771424163 7316-1751 BS_PTYP388A T T c.4540A>G p.Thr1514Ala p.T1514A ENST00000376406 10/15 56 36 10 43 39 1 MDC1,missense_variant,p.Thr1514Ala,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; C ENSG00000137337 ENST00000376406 Transcript missense_variant 5188/7576 4540/6270 1514/2089 T/A Acc/Gcc rs771424163 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0.001) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GTC . . 8.189e-06 3.039e-05 3.297e-05 30704643 MUCL3 . GRCh38 chr6 30951112 30951112 + Missense_Mutation SNP A A G rs756670469 7316-1751 BS_PTYP388A A A c.2648A>G p.Glu883Gly p.E883G ENST00000462446 2/3 40 26 6 39 38 0 MUCL3,missense_variant,p.Glu950Gly,ENST00000636043,;MUCL3,missense_variant,p.Glu883Gly,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,; G ENSG00000168631 ENST00000462446 Transcript missense_variant 2676/5314 2648/4182 883/1393 E/G gAa/gGa rs756670469,COSM5627371 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.41) benign(0) 2/3 mobidb-lite,hmmpanther:PTHR22094 0,1 MODERATE SNV 5 0,1 1 PASS GAA . . 30951112 FOXO3 . GRCh38 chr6 108561445 108561450 + In_Frame_Del DEL CGGCGG CGGCGG - rs372569038 7316-1751 BS_PTYP388A CGGCGG CGGCGG c.246_251del p.Gly83_Gly84del p.G83_G84del ENST00000406360 1/3 128 66 46 57 51 4 FOXO3,inframe_deletion,p.Gly83_Gly84del,ENST00000406360,NM_001455.3;FOXO3,inframe_deletion,p.Gly83_Gly84del,ENST00000343882,NM_201559.2;,regulatory_region_variant,,ENSR00000200820,; - ENSG00000118689 ENST00000406360 Transcript inframe_deletion 580-585/7341 237-242/2022 79-81/673 IGG/I atCGGCGGc/atc rs372569038,TMP_ESP_6_108882648_108882653 1 1 FOXO3 HGNC HGNC:3821 protein_coding YES CCDS5068.1 ENSP00000385824 O43524 UPI000012ADEA NM_001455.3 1/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF97 0.01379 0.0001875 MODERATE 1 deletion 1 9 1 PASS ATCGGCGGC . . 0.00679 0.1419 0.006857 0.002474 0.0007751 0.002751 5.257e-05 108561444 KPNA5 . GRCh38 chr6 116724363 116724363 + Missense_Mutation SNP T T A novel 7316-1751 BS_PTYP388A T T c.987T>A p.Asp329Glu p.D329E ENST00000368564 10/14 55 33 22 30 30 0 KPNA5,missense_variant,p.Asp329Glu,ENST00000368564,;KPNA5,missense_variant,p.Asp329Glu,ENST00000356348,NM_002269.2; A ENSG00000196911 ENST00000368564 Transcript missense_variant 1135/11311 987/1620 329/539 D/E gaT/gaA 1 1 KPNA5 HGNC HGNC:6398 protein_coding YES CCDS5111.1 ENSP00000357552 O15131 UPI000000DBE6 deleterious(0.01) benign(0.015) 10/14 Gene3D:1.25.10.10,PIRSF_domain:PIRSF005673,hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF10,SMART_domains:SM00185,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS ATA . . 116724363 SOGA3 . GRCh38 chr6 127515684 127515684 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.931A>C p.Met311Leu p.M311L ENST00000525778 2/7 43 33 9 52 48 0 SOGA3,missense_variant,p.Met311Leu,ENST00000525778,NM_001012279.2;SOGA3,missense_variant,p.Met311Leu,ENST00000465909,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;AL096711.2,missense_variant,p.Met311Leu,ENST00000481848,;,regulatory_region_variant,,ENSR00000202443,; G ENSG00000214338 ENST00000525778 Transcript missense_variant 1677/4077 931/2844 311/947 M/L Atg/Ctg 1 -1 SOGA3 HGNC HGNC:21494 protein_coding YES CCDS43505.1 ENSP00000434570 Q5TF21 UPI0000419273 NM_001012279.2 tolerated_low_confidence(0.44) benign(0.01) 2/7 Gene3D:1.20.5.170,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATT . . 127515684 IGF2R . GRCh38 chr6 159969379 159969379 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.133T>G p.Phe45Val p.F45V ENST00000356956 1/48 87 70 15 39 38 0 IGF2R,missense_variant,p.Phe45Val,ENST00000356956,NM_000876.3;,regulatory_region_variant,,ENSR00000206314,; G ENSG00000197081 ENST00000356956 Transcript missense_variant 281/14044 133/7476 45/2491 F/V Ttc/Gtc 1 1 IGF2R HGNC HGNC:5467 protein_coding YES CCDS5273.1 ENSP00000349437 P11717 UPI0000072478 NM_000876.3 tolerated(0.17) benign(0.003) 1/48 Gene3D:2.70.130.10,Superfamily_domains:SSF50911 MODERATE 1 SNV 1 1 PASS GTT . . 159969379 ZNF107 . GRCh38 chr7 64707717 64707717 + Missense_Mutation SNP G G T 7316-1751 BS_PTYP388A G G c.1620G>T p.Glu540Asp p.E540D ENST00000620827 4/4 85 67 8 42 40 0 ZNF107,missense_variant,p.Glu471Asp,ENST00000395391,;ZNF107,missense_variant,p.Glu471Asp,ENST00000423627,NM_016220.4;ZNF107,missense_variant,p.Glu540Asp,ENST00000620827,NM_001282359.1;ZNF107,missense_variant,p.Glu508Asp,ENST00000613690,NM_001282360.1;ZNF107,missense_variant,p.Glu471Asp,ENST00000344930,NM_001013746.2;ZNF107,downstream_gene_variant,,ENST00000360117,; T ENSG00000196247 ENST00000620827 Transcript missense_variant 1820/5685 1620/2559 540/852 E/D gaG/gaT COSM6445198 1 1 ZNF107 HGNC HGNC:12887 protein_coding YES CCDS75605.1 ENSP00000483720 A0A0B4J2G0 UPI0000049C52 NM_001282359.1 tolerated(0.21) probably_damaging(0.979) 4/4 Gene3D:2.30.30.380,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS AGG . . 64707717 CACNA2D1 . GRCh38 chr7 81950440 81950440 + Missense_Mutation SNP C C G novel 7316-1751 BS_PTYP388A C C c.3228G>C p.Gln1076His p.Q1076H ENST00000356860 39/39 74 48 24 45 44 0 CACNA2D1,missense_variant,p.Gln1076His,ENST00000356860,NM_000722.3;CACNA2D1,missense_variant,p.Gln1088His,ENST00000356253,; G ENSG00000153956 ENST00000356860 Transcript missense_variant 3567/7563 3228/3276 1076/1091 Q/H caG/caC 1 -1 CACNA2D1 HGNC HGNC:1399 protein_coding YES CCDS5598.1 ENSP00000349320 P54289 UPI00003674CD NM_000722.3 deleterious(0) probably_damaging(0.999) 39/39 hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6 MODERATE 1 SNV 1 1 PASS ACT . . 81950440 CDK14 . GRCh38 chr7 90726759 90726759 + Missense_Mutation SNP T T A novel 7316-1751 BS_PTYP388A T T c.316T>A p.Ser106Thr p.S106T ENST00000380050 3/15 96 55 40 41 40 0 CDK14,missense_variant,p.Ser60Thr,ENST00000406263,NM_001287136.1;CDK14,missense_variant,p.Ser106Thr,ENST00000380050,NM_001287135.1;CDK14,missense_variant,p.Ser88Thr,ENST00000265741,NM_012395.3;CDK14,missense_variant,p.Ser60Thr,ENST00000449528,;CDK14,missense_variant,p.Ser60Thr,ENST00000456689,;CDK14,missense_variant,p.Ser60Thr,ENST00000446224,;CDK14,missense_variant,p.Ser60Thr,ENST00000430760,;CDK14,missense_variant,p.Ser60Thr,ENST00000446790,;CDK14,synonymous_variant,p.Pro8=,ENST00000436577,NM_001287137.1;CDK14,non_coding_transcript_exon_variant,,ENST00000478540,;CDK14,intron_variant,,ENST00000484035,;CDK14,downstream_gene_variant,,ENST00000496279,;CDK14,missense_variant,p.Ser60Thr,ENST00000431029,;,regulatory_region_variant,,ENSR00000214946,; A ENSG00000058091 ENST00000380050 Transcript missense_variant 447/4995 316/1410 106/469 S/T Tcc/Acc 1 1 CDK14 HGNC HGNC:8883 protein_coding YES CCDS75626.1 ENSP00000369390 O94921 UPI000013EAF4 NM_001287135.1 tolerated(0.27) benign(0.015) 3/15 mobidb-lite,hmmpanther:PTHR24056:SF154,hmmpanther:PTHR24056,Gene3D:3.30.200.20 MODERATE 1 SNV 1 PASS CTC . . 90726759 MUC17 . GRCh38 chr7 101040240 101040240 + Missense_Mutation SNP G G T 7316-1751 BS_PTYP388A G G c.8824G>T p.Gly2942Cys p.G2942C ENST00000306151 3/13 106 80 10 37 35 0 MUC17,missense_variant,p.Gly2942Cys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2942Cys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 8888/14247 8824/13482 2942/4493 G/C Ggt/Tgt COSM743546 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.01) probably_damaging(0.921) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS CGG . . 101040240 CTAGE15 . GRCh38 chr7 143572895 143572896 + Frame_Shift_Del DEL CA CA - novel 7316-1751 BS_PTYP388A CA CA c.1078_1079del p.Gln360AspfsTer14 p.Q360Dfs*14 ENST00000420911 1/1 58 49 5 40 39 0 CTAGE15,frameshift_variant,p.Gln360AspfsTer14,ENST00000420911,NM_001008747.2;RNU6-162P,upstream_gene_variant,,ENST00000516228,; - ENSG00000271079 ENST00000420911 Transcript frameshift_variant 1095-1096/2587 1078-1079/2334 360/777 Q/X CAg/g 1 1 CTAGE15 HGNC HGNC:37295 protein_coding YES CCDS64788.1 ENSP00000474204 A4D2H0 UPI0000199821 NM_001008747.2 1/1 Gene3D:1.20.5.1000,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF53 HIGH 1 deletion PASS TTCAG . . 143572894 TPK1 . GRCh38 chr7 144835626 144835626 + Splice_Region DEL A A - rs775717081 7316-1751 BS_PTYP388A A A c.-16-8del ENST00000360057 104 77 17 47 36 0 TPK1,splice_region_variant,,ENST00000360057,NM_022445.3,NM_001350879.1;TPK1,splice_region_variant,,ENST00000378099,NM_001042482.1;TPK1,splice_region_variant,,ENST00000552881,;TPK1,splice_region_variant,,ENST00000639328,;TPK1,splice_region_variant,,ENST00000548460,;TPK1,splice_region_variant,,ENST00000378098,;,regulatory_region_variant,,ENSR00000219489,; - ENSG00000196511 ENST00000360057 Transcript splice_region_variant,intron_variant rs775717081,TMP_ESP_7_144532719_144532719 1 -1 TPK1 HGNC HGNC:17358 protein_coding YES CCDS5888.1 ENSP00000353165 Q9H3S4 A0A090N8Y0 UPI000004FD50 NM_022445.3,NM_001350879.1 1/8 0.06409 0.07626 LOW 1 deletion 1 1 PASS TTAA . . 0.1909 0.14 0.2131 0.2254 0.1638 0.1681 0.1833 0.1947 0.2245 144835625 RP1L1 . GRCh38 chr8 10608324 10608324 + Missense_Mutation SNP A A G rs1185587658 7316-1751 BS_PTYP388A A A c.5774T>C p.Leu1925Pro p.L1925P ENST00000382483 4/4 59 43 5 44 40 0 RP1L1,missense_variant,p.Leu1925Pro,ENST00000382483,NM_178857.5; G ENSG00000183638 ENST00000382483 Transcript missense_variant 5998/7973 5774/7203 1925/2400 L/P cTg/cCg rs1185587658 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(0.16) benign(0) 4/4 mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 MODERATE 1 SNV 1 1 PASS CAG . . 10608324 SORBS3 . GRCh38 chr8 22554583 22554583 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.77T>G p.Ile26Arg p.I26R ENST00000240123 2/21 87 73 14 41 40 1 SORBS3,missense_variant,p.Ile26Arg,ENST00000240123,NM_005775.4;SORBS3,upstream_gene_variant,,ENST00000520563,;SORBS3,non_coding_transcript_exon_variant,,ENST00000522037,;SORBS3,non_coding_transcript_exon_variant,,ENST00000523941,;SORBS3,missense_variant,p.Ile26Arg,ENST00000517500,;SORBS3,non_coding_transcript_exon_variant,,ENST00000517535,;SORBS3,non_coding_transcript_exon_variant,,ENST00000523402,;SORBS3,upstream_gene_variant,,ENST00000524057,; G ENSG00000120896 ENST00000240123 Transcript missense_variant 460/3459 77/2016 26/671 I/R aTa/aGa 1 1 SORBS3 HGNC HGNC:30907 protein_coding YES CCDS6031.1 ENSP00000240123 O60504 UPI00001AE6B5 NM_005775.4 tolerated_low_confidence(0.09) benign(0) 2/21 hmmpanther:PTHR44972 MODERATE 1 SNV 1 PASS ATA . . 22554583 ADRA1A . GRCh38 chr8 26748751 26748751 + Splice_Region DEL A A - rs534870257 7316-1751 BS_PTYP388A A A c.1270-3del ENST00000380586 51 20 16 31 24 0 ADRA1A,splice_region_variant,,ENST00000380586,NM_001322503.1,NM_033303.4;ADRA1A,splice_region_variant,,ENST00000519096,; - ENSG00000120907 ENST00000380586 Transcript splice_region_variant,intron_variant rs534870257 1 -1 ADRA1A HGNC HGNC:277 protein_coding YES CCDS34869.1 ENSP00000369960 P35348 B0ZBD3 UPI000066DA42 NM_001322503.1,NM_033303.4 2/2 0.1761 0.2753 0.1182 0.1171 0.1521 0.1687 LOW 1 deletion 1 PASS CTAA . . 0.2712 0.2929 0.2805 0.2727 0.2868 0.152 0.2605 0.2743 0.2653 26748750 OPRK1 . GRCh38 chr8 53229587 53229587 + Missense_Mutation SNP C C T rs369742092 7316-1751 BS_PTYP388A C C c.853G>A p.Val285Ile p.V285I ENST00000265572 4/4 89 77 12 43 43 0 OPRK1,missense_variant,p.Val196Ile,ENST00000612786,NM_001282904.1;OPRK1,missense_variant,p.Val285Ile,ENST00000265572,NM_001318497.1,NM_000912.4;OPRK1,missense_variant,p.Val271Ile,ENST00000613482,;OPRK1,missense_variant,p.Val285Ile,ENST00000520287,;OPRK1,missense_variant,p.Val196Ile,ENST00000524278,;AC009646.2,intron_variant,,ENST00000524425,;OPRK1,3_prime_UTR_variant,,ENST00000522508,; T ENSG00000082556 ENST00000265572 Transcript missense_variant 1151/5014 853/1143 285/380 V/I Gtc/Atc rs369742092,COSM454668 1 -1 OPRK1 HGNC HGNC:8154 protein_coding YES CCDS6152.1 ENSP00000265572 P41145 UPI000011D794 NM_001318497.1,NM_000912.4 tolerated(0.68) benign(0.03) 4/4 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,cd15091,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF1,hmmpanther:PTHR24229,Prints_domain:PR00237 0.0001163 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 1.22e-05 6.537e-05 8.969e-06 3.249e-05 53229587 FAM92A . GRCh38 chr8 93728290 93728290 + Missense_Mutation SNP T T C novel 7316-1751 BS_PTYP388A T T c.863T>C p.Leu288Pro p.L288P ENST00000518322 9/9 108 81 23 45 45 0 FAM92A,missense_variant,p.Leu288Pro,ENST00000518322,NM_145269.4;FAM92A,missense_variant,p.Leu287Pro,ENST00000620645,;FAM92A,missense_variant,p.Leu250Pro,ENST00000423990,NM_001283034.1;FAM92A,missense_variant,p.Leu133Pro,ENST00000517718,;FAM92A,missense_variant,p.Leu133Pro,ENST00000521641,;RBM12B,downstream_gene_variant,,ENST00000399300,NM_203390.2;RBM12B,downstream_gene_variant,,ENST00000517700,;FAM92A,downstream_gene_variant,,ENST00000519679,;AC010834.1,upstream_gene_variant,,ENST00000517998,;FAM92A,non_coding_transcript_exon_variant,,ENST00000520363,;RBM12B,downstream_gene_variant,,ENST00000520961,;FAM92A,3_prime_UTR_variant,,ENST00000518116,;FAM92A,3_prime_UTR_variant,,ENST00000452913,;FAM92A,3_prime_UTR_variant,,ENST00000359421,;FAM92A,non_coding_transcript_exon_variant,,ENST00000523577,; C ENSG00000188343 ENST00000518322 Transcript missense_variant 1004/4241 863/870 288/289 L/P cTt/cCt 1 1 FAM92A HGNC HGNC:30452 protein_coding YES CCDS47892.1 ENSP00000429367 A1XBS5 UPI000156FA8B NM_145269.4 deleterious_low_confidence(0) benign(0.226) 9/9 mobidb-lite MODERATE SNV 5 PASS CTT . . 93728290 C8orf76 . GRCh38 chr8 123241341 123241341 + Missense_Mutation SNP A A C rs1166415381 7316-1751 BS_PTYP388A A A c.6T>G p.Asp2Glu p.D2E ENST00000276704 1/6 131 109 16 41 39 1 C8orf76,missense_variant,p.Asp2Glu,ENST00000276704,NM_032847.2;ZHX1-C8orf76,intron_variant,,ENST00000357082,NM_001204180.1;ZHX1-C8orf76,intron_variant,,ENST00000622816,;C8orf76,non_coding_transcript_exon_variant,,ENST00000521310,;C8orf76,non_coding_transcript_exon_variant,,ENST00000522477,;C8orf76,upstream_gene_variant,,ENST00000519791,;C8orf76,non_coding_transcript_exon_variant,,ENST00000523726,;C8orf76,upstream_gene_variant,,ENST00000518996,;,regulatory_region_variant,,ENSR00000229972,;UBA52P5,downstream_gene_variant,,ENST00000461723,; C ENSG00000189376 ENST00000276704 Transcript missense_variant 58/1341 6/1143 2/380 D/E gaT/gaG rs1166415381 1 -1 C8orf76 HGNC HGNC:25924 protein_coding YES CCDS6341.1 ENSP00000276704 Q96K31 UPI000006E851 NM_032847.2 tolerated_low_confidence(1) benign(0) 1/6 hmmpanther:PTHR31919 MODERATE 1 SNV 1 PASS AAT . . 1.096e-05 2.324e-05 123241341 GRINA . GRCh38 chr8 143991563 143991563 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.340T>G p.Tyr114Asp p.Y114D ENST00000313269 2/7 106 67 14 43 42 1 GRINA,missense_variant,p.Tyr114Asp,ENST00000313269,NM_000837.1;GRINA,missense_variant,p.Tyr114Asp,ENST00000395068,NM_001009184.1;GRINA,missense_variant,p.Tyr114Asp,ENST00000529301,;GRINA,missense_variant,p.Tyr38Asp,ENST00000534791,;GRINA,missense_variant,p.Tyr4Asp,ENST00000533044,;PARP10,intron_variant,,ENST00000530478,;PARP10,upstream_gene_variant,,ENST00000525486,;PARP10,upstream_gene_variant,,ENST00000525879,;GRINA,upstream_gene_variant,,ENST00000527194,;PARP10,upstream_gene_variant,,ENST00000528136,;PARP10,upstream_gene_variant,,ENST00000528625,;PARP10,upstream_gene_variant,,ENST00000528914,;PARP10,upstream_gene_variant,,ENST00000529311,;PARP10,upstream_gene_variant,,ENST00000529842,;GRINA,downstream_gene_variant,,ENST00000530898,;PARP10,upstream_gene_variant,,ENST00000531537,;PARP10,upstream_gene_variant,,ENST00000531707,;PARP10,upstream_gene_variant,,ENST00000532311,;PARP10,upstream_gene_variant,,ENST00000532660,;PARP10,upstream_gene_variant,,ENST00000534737,;GRINA,non_coding_transcript_exon_variant,,ENST00000525513,;GRINA,non_coding_transcript_exon_variant,,ENST00000531992,;GRINA,upstream_gene_variant,,ENST00000533377,; G ENSG00000178719 ENST00000313269 Transcript missense_variant 618/1968 340/1116 114/371 Y/D Tat/Gat 1 1 GRINA HGNC HGNC:4589 protein_coding YES CCDS34961.1 ENSP00000314380 Q7Z429 UPI000015A99B NM_000837.1 tolerated(0.13) possibly_damaging(0.767) 2/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23291:SF16,hmmpanther:PTHR23291 MODERATE 1 SNV 5 PASS CTA . . 143991563 ARID3C . GRCh38 chr9 34627875 34627875 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.140A>C p.Asn47Thr p.N47T ENST00000378909 1/7 114 99 14 44 42 0 ARID3C,missense_variant,p.Asn47Thr,ENST00000378909,NM_001017363.1; G ENSG00000205143 ENST00000378909 Transcript missense_variant 233/1411 140/1239 47/412 N/T aAt/aCt 1 -1 ARID3C HGNC HGNC:21209 protein_coding YES CCDS35006.1 ENSP00000368189 A6NKF2 UPI0000509F06 NM_001017363.1 tolerated_low_confidence(0.14) benign(0.001) 1/7 hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF2,mobidb-lite MODERATE 1 SNV 2 PASS ATT . . 34627875 PRRT1B . GRCh38 chr9 131545617 131545617 + Translation_Start_Site SNP T T G novel 7316-1751 BS_PTYP388A T T c.2T>G p.Met1? p.M1? ENST00000636672 1/4 89 66 12 46 43 1 PRRT1B,start_lost,p.Met1?,ENST00000636672,;,regulatory_region_variant,,ENSR00000337990,; G ENSG00000283526 ENST00000636672 Transcript start_lost 104/1312 2/792 1/263 M/R aTg/aGg 1 1 PRRT1B HGNC HGNC:53642 protein_coding YES ENSP00000490857 A0A1B0GWB2 UPI0007E52AFB deleterious_low_confidence(0) unknown(0) 1/4 mobidb-lite HIGH 1 SNV 5 PASS ATG . . 131545617 SNAPC4 . GRCh38 chr9 136378682 136378682 + Missense_Mutation SNP T T G rs1222805677 7316-1751 BS_PTYP388A T T c.3145A>C p.Ser1049Arg p.S1049R ENST00000298532 21/23 99 85 13 48 46 2 SNAPC4,missense_variant,p.Ser1049Arg,ENST00000298532,NM_003086.2; G ENSG00000165684 ENST00000298532 Transcript missense_variant 3514/5010 3145/4410 1049/1469 S/R Agc/Cgc rs1222805677 1 -1 SNAPC4 HGNC HGNC:11137 protein_coding YES CCDS6998.1 ENSP00000298532 Q5SXM2 A0A024R8F4 UPI000013E4EC NM_003086.2 deleterious(0) benign(0.11) 21/23 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTG . . 136378682 MAMDC4 . GRCh38 chr9 136857396 136857396 + Nonsense_Mutation SNP C C G novel 7316-1751 BS_PTYP388A C C c.2136C>G p.Tyr712Ter p.Y712* ENST00000317446 18/27 120 95 23 42 41 0 MAMDC4,stop_gained,p.Tyr791Ter,ENST00000445819,;MAMDC4,stop_gained,p.Tyr712Ter,ENST00000317446,NM_206920.2;EDF1,downstream_gene_variant,,ENST00000224073,NM_003792.3,NM_001281298.1,NM_001281299.1;EDF1,downstream_gene_variant,,ENST00000371649,NM_001281297.1;MAMDC4,non_coding_transcript_exon_variant,,ENST00000485732,;MAMDC4,downstream_gene_variant,,ENST00000481327,;MAMDC4,stop_gained,p.Tyr67Ter,ENST00000479475,; G ENSG00000177943 ENST00000317446 Transcript stop_gained 2186/3658 2136/3414 712/1137 Y/* taC/taG 1 1 MAMDC4 HGNC HGNC:24083 protein_coding YES CCDS7010.1 ENSP00000319388 Q6UXC1 UPI0000237828 NM_206920.2 18/27 Gene3D:2.60.120.200,Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF83,SMART_domains:SM00137,Superfamily_domains:SSF49899,cd06263 HIGH 1 SNV 1 PASS ACC . . 136857396 UCMA . GRCh38 chr10 13234216 13234216 + Missense_Mutation SNP C C T rs372826471 7316-1751 BS_PTYP388A C C c.43G>A p.Val15Met p.V15M ENST00000378681 1/5 100 86 13 30 29 0 UCMA,missense_variant,p.Val15Met,ENST00000378681,NM_001303118.1,NM_145314.2;UCMA,missense_variant,p.Val15Met,ENST00000463405,NM_001303119.1; T ENSG00000165623 ENST00000378681 Transcript missense_variant 116/826 43/417 15/138 V/M Gtg/Atg rs372826471,COSM3751623 1 -1 UCMA HGNC HGNC:25205 protein_coding YES CCDS31147.1 ENSP00000367952 Q8WVF2 A0A067XJX6 UPI000015F8FB NM_001303118.1,NM_145314.2 tolerated(0.11) benign(0.006) 1/5 Pfam_domain:PF17085,hmmpanther:PTHR28647,hmmpanther:PTHR28647:SF2,Cleavage_site_(Signalp):SignalP-noTM 0.0001163 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 4.074e-05 0.000197 5.805e-05 4.489e-05 3.258e-05 13234216 PHYH . GRCh38 chr10 13300008 13300008 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.35T>G p.Ile12Ser p.I12S ENST00000263038 1/9 118 105 12 44 43 0 PHYH,missense_variant,p.Ile12Ser,ENST00000263038,NM_006214.3,NM_001323082.1,NM_001323083.1;PHYH,missense_variant,p.Ile12Ser,ENST00000479604,;PHYH,intron_variant,,ENST00000396920,;PHYH,upstream_gene_variant,,ENST00000396913,NM_001037537.1,NM_001323080.1,NM_001323084.1;PHYH,upstream_gene_variant,,ENST00000453759,;PHYH,non_coding_transcript_exon_variant,,ENST00000463730,;,regulatory_region_variant,,ENSR00000258242,; C ENSG00000107537 ENST00000263038 Transcript missense_variant 94/1577 35/1017 12/338 I/S aTt/aGt 1 -1 PHYH HGNC HGNC:8940 protein_coding YES CCDS7097.1 ENSP00000263038 O14832 UPI0000131215 NM_006214.3,NM_001323082.1,NM_001323083.1 deleterious(0.04) benign(0.055) 1/9 hmmpanther:PTHR21308,hmmpanther:PTHR21308:SF1 MODERATE 1 SNV 1 1 PASS AAT . . 13300008 JCAD . GRCh38 chr10 30026535 30026535 + Missense_Mutation SNP C C A 7316-1751 BS_PTYP388A C C c.3613G>T p.Asp1205Tyr p.D1205Y ENST00000375377 3/4 119 108 10 43 42 0 JCAD,missense_variant,p.Asp1205Tyr,ENST00000375377,NM_020848.2,NM_001350001.1,NM_001350022.1,NM_001350021.1; A ENSG00000165757 ENST00000375377 Transcript missense_variant 3715/9265 3613/4080 1205/1359 D/Y Gat/Tat COSM5370554 1 -1 JCAD HGNC HGNC:29283 protein_coding YES CCDS41500.1 ENSP00000364526 Q9P266 UPI00001D8117 NM_020848.2,NM_001350001.1,NM_001350022.1,NM_001350021.1 deleterious(0) possibly_damaging(0.906) 3/4 Pfam_domain:PF15351,hmmpanther:PTHR34757,mobidb-lite 1 MODERATE 1 SNV 5 1 PASS TCC . . 30026535 PCBD1 . GRCh38 chr10 70888533 70888533 + Translation_Start_Site SNP T T G novel 7316-1751 BS_PTYP388A T T c.1A>C p.Met1? p.M1? ENST00000299299 1/4 114 100 9 37 35 0 PCBD1,start_lost,p.Met1?,ENST00000299299,NM_000281.3;PCBD1,upstream_gene_variant,,ENST00000493228,NM_001289797.1;PCBD1,upstream_gene_variant,,ENST00000493961,;,regulatory_region_variant,,ENSR00000029488,; G ENSG00000166228 ENST00000299299 Transcript start_lost,splice_region_variant 252/1006 1/315 1/104 M/L Atg/Ctg 1 -1 PCBD1 HGNC HGNC:8646 protein_coding YES CCDS31217.1 ENSP00000299299 P61457 UPI0000110F51 NM_000281.3 tolerated_low_confidence(0.14) benign(0.003) 1/4 hmmpanther:PTHR12599,hmmpanther:PTHR12599:SF13 HIGH 1 SNV 1 1 PASS ATG . . 70888533 PLAU . GRCh38 chr10 73914824 73914824 + Missense_Mutation SNP G G T novel 7316-1751 BS_PTYP388A G G c.878G>T p.Arg293Leu p.R293L ENST00000372764 9/11 141 122 18 47 46 0 PLAU,missense_variant,p.Arg276Leu,ENST00000446342,NM_001145031.2,NM_001319191.1;PLAU,missense_variant,p.Arg293Leu,ENST00000372764,NM_002658.4;C10orf55,intron_variant,,ENST00000412307,NM_001001791.2;PLAU,downstream_gene_variant,,ENST00000481390,;C10orf55,intron_variant,,ENST00000409178,;PLAU,downstream_gene_variant,,ENST00000494287,;PLAU,downstream_gene_variant,,ENST00000496926,;,regulatory_region_variant,,ENSR00000029889,; T ENSG00000122861 ENST00000372764 Transcript missense_variant 971/2321 878/1296 293/431 R/L cGg/cTg 1 1 PLAU HGNC HGNC:9052 protein_coding YES CCDS7339.1 ENSP00000361850 P00749 UPI000013CB02 NM_002658.4 deleterious(0.04) possibly_damaging(0.595) 9/11 cd00190,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF38,hmmpanther:PTHR24264 MODERATE 1 SNV 1 1 PASS CGG . . 73914824 KAT6B . GRCh38 chr10 75025188 75025191 + Frame_Shift_Del DEL ACAA ACAA - 7316-1751 BS_PTYP388A ACAA ACAA c.3606_3609del p.Thr1203ArgfsTer21 p.T1203Rfs*21 ENST00000287239 17/18 112 92 16 45 44 0 KAT6B,frameshift_variant,p.Thr1203ArgfsTer21,ENST00000287239,NM_012330.3;KAT6B,frameshift_variant,p.Thr1020ArgfsTer21,ENST00000372711,NM_001256468.1;KAT6B,frameshift_variant,p.Thr911ArgfsTer21,ENST00000372724,NM_001256469.1;KAT6B,frameshift_variant,p.Thr911ArgfsTer21,ENST00000372725,;KAT6B,frameshift_variant,p.Thr911ArgfsTer21,ENST00000372714,;AC018511.2,upstream_gene_variant,,ENST00000413431,;AC018511.1,upstream_gene_variant,,ENST00000436608,;KAT6B,non_coding_transcript_exon_variant,,ENST00000490365,; - ENSG00000156650 ENST00000287239 Transcript frameshift_variant 4092-4095/8287 3603-3606/6222 1201-1202/2073 RQ/X agACAA/ag COSM5711899 1 1 KAT6B HGNC HGNC:17582 protein_coding YES CCDS7345.1 ENSP00000287239 Q8WYB5 UPI000013DEA0 NM_012330.3 17/18 hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF73,mobidb-lite 1 HIGH 1 deletion 1 3 1 1 PASS AGACAAA . . 75025187 IFIT3 . GRCh38 chr10 89340003 89340003 + Missense_Mutation SNP C C A novel 7316-1751 BS_PTYP388A C C c.1348C>A p.Pro450Thr p.P450T ENST00000371818 2/2 109 85 24 40 40 0 IFIT3,missense_variant,p.Pro450Thr,ENST00000371818,NM_001549.5;IFIT3,missense_variant,p.Pro450Thr,ENST00000371811,NM_001031683.3,NM_001289759.1;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000463623,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000489359,; A ENSG00000119917 ENST00000371818 Transcript missense_variant 1528/2496 1348/1473 450/490 P/T Cct/Act 1 1 IFIT3 HGNC HGNC:5411 protein_coding YES CCDS7402.1 ENSP00000360883 O14879 Q5T765 UPI000012D3E5 NM_001549.5 deleterious(0.01) benign(0.006) 2/2 hmmpanther:PTHR10271:SF3,hmmpanther:PTHR10271,Gene3D:1.25.40.10 MODERATE 1 SNV 1 PASS CCC . . 89340003 ZDHHC6 . GRCh38 chr10 112430877 112430877 + Missense_Mutation SNP C C G novel 7316-1751 BS_PTYP388A C C c.1169G>C p.Arg390Thr p.R390T ENST00000369405 11/11 114 90 23 54 54 0 ZDHHC6,missense_variant,p.Arg390Thr,ENST00000369405,NM_022494.2,NM_001351083.1;ZDHHC6,missense_variant,p.Arg386Thr,ENST00000369404,NM_001303134.1;ZDHHC6,intron_variant,,ENST00000626395,;ACSL5,downstream_gene_variant,,ENST00000354273,;ACSL5,downstream_gene_variant,,ENST00000354655,NM_203379.1;ACSL5,downstream_gene_variant,,ENST00000356116,NM_016234.3;ACSL5,downstream_gene_variant,,ENST00000393081,NM_203380.1;ACSL5,downstream_gene_variant,,ENST00000433418,;ZDHHC6,non_coding_transcript_exon_variant,,ENST00000482410,;ZDHHC6,non_coding_transcript_exon_variant,,ENST00000471035,;ACSL5,downstream_gene_variant,,ENST00000496328,; G ENSG00000023041 ENST00000369405 Transcript missense_variant 1593/2170 1169/1242 390/413 R/T aGa/aCa 1 -1 ZDHHC6 HGNC HGNC:19160 protein_coding YES CCDS7574.1 ENSP00000358413 Q9H6R6 UPI00000373E8 NM_022494.2,NM_001351083.1 deleterious(0.05) benign(0.071) 11/11 Gene3D:2.30.30.40,Pfam_domain:PF07653 MODERATE 1 SNV 1 PASS TCT . . 112430877 DOCK1 . GRCh38 chr10 126977996 126977998 + Splice_Region DEL CTT CTT - rs769621809 7316-1751 BS_PTYP388A CTT CTT c.171+14_171+16del ENST00000623213 94 65 20 54 51 0 DOCK1,splice_region_variant,,ENST00000280333,NM_001380.4;DOCK1,splice_region_variant,,ENST00000623213,NM_001290223.1; - ENSG00000150760 ENST00000623213 Transcript splice_region_variant,intron_variant rs769621809 1 1 DOCK1 HGNC HGNC:2987 protein_coding YES CCDS76359.1 ENSP00000485033 A0A096LNH6 UPI0003EAEE97 NM_001290223.1 3/51 LOW 1 deletion 1 6 PASS TCCTTC . . 3.25e-05 5.959e-05 5.798e-05 4.489e-05 3.582e-05 126977995 SCART1 . GRCh38 chr10 133459828 133459828 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.1627A>C p.Met543Leu p.M543L ENST00000640237 6/12 171 149 16 41 40 0 SCART1,missense_variant,p.Met543Leu,ENST00000640237,;SCART1,non_coding_transcript_exon_variant,,ENST00000488261,;SCART1,intron_variant,,ENST00000463137,;SCART1,intron_variant,,ENST00000482993,;SCART1,upstream_gene_variant,,ENST00000462252,; C ENSG00000214279 ENST00000640237 Transcript missense_variant 1679/4351 1627/3084 543/1027 M/L Atg/Ctg 1 1 SCART1 HGNC HGNC:32411 protein_coding YES ENSP00000491516 Q4G0T1 UPI000198C90A tolerated_low_confidence(0.77) benign(0) 6/12 MODERATE 1 SNV 5 PASS CAT . . 133459828 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 64 39 12 39 38 1 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 TRIM68 . GRCh38 chr11 4605383 4605383 + Missense_Mutation SNP G G C novel 7316-1751 BS_PTYP388A G G c.122C>G p.Ser41Cys p.S41C ENST00000300747 2/7 58 32 25 27 27 0 TRIM68,missense_variant,p.Ser41Cys,ENST00000300747,NM_018073.7;TRIM68,missense_variant,p.Ser41Cys,ENST00000533021,;TRIM68,intron_variant,,ENST00000526337,NM_001304496.1;TRIM68,missense_variant,p.Ser41Cys,ENST00000531101,;TRIM68,non_coding_transcript_exon_variant,,ENST00000532108,;TRIM68,intron_variant,,ENST00000531644,;TRIM68,upstream_gene_variant,,ENST00000531717,; C ENSG00000167333 ENST00000300747 Transcript missense_variant 412/3352 122/1458 41/485 S/C tCt/tGt 1 -1 TRIM68 HGNC HGNC:21161 protein_coding YES CCDS31356.1 ENSP00000300747 Q6AZZ1 UPI00001D6F26 NM_018073.7 deleterious(0) benign(0.062) 2/7 cd16610,Gene3D:3.30.40.10,Pfam_domain:PF15227,SMART_domains:SM00184,Superfamily_domains:SSF57850,PROSITE_profiles:PS50089,hmmpanther:PTHR24103:SF89,hmmpanther:PTHR24103 MODERATE 1 SNV 1 PASS AGA . . 4605383 OTOG . GRCh38 chr11 17645615 17645615 + Missense_Mutation SNP G G A rs548280117 7316-1751 BS_PTYP388A G G c.8549G>A p.Arg2850His p.R2850H ENST00000399391 54/55 113 79 32 47 47 0 OTOG,missense_variant,p.Arg2838His,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Arg2850His,ENST00000399391,NM_001277269.1; A ENSG00000188162 ENST00000399391 Transcript missense_variant 8549/8778 8549/8778 2850/2925 R/H cGc/cAc rs548280117,COSM6307350,COSM6307349 1 1 OTOG HGNC HGNC:8516 protein_coding YES CCDS76390.1 ENSP00000382323 Q6ZRI0 UPI0001662628 NM_001277269.1 deleterious(0) probably_damaging(0.988) 54/55 PROSITE_profiles:PS01225,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,SMART_domains:SM00041 0.0002 0.001 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS CGC . . 9.749e-05 0.0002936 9.878e-05 1.922e-05 0.0002213 17645615 OR8J3 . GRCh38 chr11 56137288 56137288 + Missense_Mutation SNP A A T novel 7316-1751 BS_PTYP388A A A c.431T>A p.Leu144Gln p.L144Q ENST00000642058 2/2 78 63 15 51 49 0 OR8J3,missense_variant,p.Leu144Gln,ENST00000642058,;OR8J3,missense_variant,p.Leu144Gln,ENST00000641913,;OR8J3,missense_variant,p.Leu144Gln,ENST00000301529,NM_001004064.1;OR8J3,intron_variant,,ENST00000641489,;OR5BN1P,upstream_gene_variant,,ENST00000532955,; T ENSG00000167822 ENST00000642058 Transcript missense_variant 1239/3806 431/948 144/315 L/Q cTg/cAg 1 -1 OR8J3 HGNC HGNC:15312 protein_coding YES CCDS31520.1 ENSP00000493166 Q8NGG0 A0A126GVE3 UPI0000061E99 deleterious(0) probably_damaging(0.991) 2/2 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15413,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF703,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS CAG . . 56137288 OR5AK2 . GRCh38 chr11 56989317 56989317 + Missense_Mutation SNP T T A novel 7316-1751 BS_PTYP388A T T c.404T>A p.Ile135Asn p.I135N ENST00000326855 1/1 79 64 15 44 44 0 OR5AK2,missense_variant,p.Ile135Asn,ENST00000326855,NM_001005323.1; A ENSG00000181273 ENST00000326855 Transcript missense_variant 446/996 404/930 135/309 I/N aTc/aAc 1 1 OR5AK2 HGNC HGNC:15251 protein_coding YES CCDS31538.1 ENSP00000322784 Q8NH90 A0A126GW20 UPI0000041D03 NM_001005323.1 deleterious(0) possibly_damaging(0.786) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF47,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS ATC . . 56989317 LPXN . GRCh38 chr11 58564159 58564159 + Missense_Mutation SNP A A G novel 7316-1751 BS_PTYP388A A A c.229T>C p.Tyr77His p.Y77H ENST00000528954 3/9 74 50 23 44 44 0 LPXN,missense_variant,p.Tyr77His,ENST00000528954,NM_001143995.2;LPXN,missense_variant,p.Tyr72His,ENST00000395074,NM_004811.2;LPXN,intron_variant,,ENST00000528489,NM_001307951.1;LPXN,missense_variant,p.Tyr72His,ENST00000530561,;LPXN,non_coding_transcript_exon_variant,,ENST00000529915,; G ENSG00000110031 ENST00000528954 Transcript missense_variant 349/1879 229/1176 77/391 Y/H Tac/Cac 1 -1 LPXN HGNC HGNC:14061 protein_coding YES CCDS53635.1 ENSP00000431284 O60711 UPI00001FA7B3 NM_001143995.2 tolerated(0.36) benign(0.005) 3/9 PIRSF_domain:PIRSF037881,hmmpanther:PTHR24216,hmmpanther:PTHR24216:SF23 MODERATE 1 SNV 2 PASS TAG . . 58564159 OR5AN1 . GRCh38 chr11 59364997 59364997 + Missense_Mutation SNP G G A novel 7316-1751 BS_PTYP388A G G c.539G>A p.Cys180Tyr p.C180Y ENST00000641850 2/2 60 38 22 40 40 0 OR5AN1,missense_variant,p.Cys180Tyr,ENST00000641850,;OR5AN1,missense_variant,p.Cys180Tyr,ENST00000641998,;OR5AN1,missense_variant,p.Cys180Tyr,ENST00000313940,NM_001004729.1; A ENSG00000176495 ENST00000641850 Transcript missense_variant 1751/8468 539/936 180/311 C/Y tGt/tAt 1 1 OR5AN1 HGNC HGNC:15255 protein_coding YES CCDS31559.1 ENSP00000492957 Q8NGI8 A0A126GVP9 UPI000004B1FD deleterious(0) probably_damaging(0.999) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF262,Superfamily_domains:SSF81321,cd15417 MODERATE 1 SNV PASS TGT . . 59364997 AHNAK . GRCh38 chr11 62530459 62530459 + Missense_Mutation SNP C C T rs200652890 7316-1751 BS_PTYP388A C C c.3958G>A p.Ala1320Thr p.A1320T ENST00000378024 5/5 78 71 5 40 39 0 AHNAK,missense_variant,p.Ala1320Thr,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000528508,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000531324,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 4233/18787 3958/17673 1320/5890 A/T Gcc/Acc rs200652890,COSM5956278,COSM5956277 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.25) benign(0.013) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GCC . . 2.03e-05 0.0001739 1.79e-05 62530459 PYGM . GRCh38 chr11 64752044 64752044 + Missense_Mutation SNP G G C novel 7316-1751 BS_PTYP388A G G c.1648C>G p.Leu550Val p.L550V ENST00000164139 14/20 55 33 20 43 43 0 PYGM,missense_variant,p.Leu550Val,ENST00000164139,NM_005609.2;PYGM,missense_variant,p.Leu462Val,ENST00000377432,NM_001164716.1;PYGM,downstream_gene_variant,,ENST00000460413,;PYGM,upstream_gene_variant,,ENST00000462303,;PYGM,upstream_gene_variant,,ENST00000483742,; C ENSG00000068976 ENST00000164139 Transcript missense_variant 2047/3198 1648/2529 550/842 L/V Cta/Gta 1 -1 PYGM HGNC HGNC:9726 protein_coding YES CCDS8079.1 ENSP00000164139 P11217 UPI000013C5AC NM_005609.2 tolerated(0.32) possibly_damaging(0.665) 14/20 cd04300,hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF13,Gene3D:3.40.50.2000,TIGRFAM_domain:TIGR02093,PIRSF_domain:PIRSF000460,Pfam_domain:PF00343,Superfamily_domains:SSF53756 MODERATE 1 SNV 1 1 PASS AGG . . 64752044 ARAP1 . GRCh38 chr11 72701741 72701741 + Missense_Mutation SNP T T C novel 7316-1751 BS_PTYP388A T T c.2210A>G p.Tyr737Cys p.Y737C ENST00000393609 16/35 67 50 15 45 44 0 ARAP1,missense_variant,p.Tyr737Cys,ENST00000359373,;ARAP1,missense_variant,p.Tyr737Cys,ENST00000393609,NM_001040118.2;ARAP1,missense_variant,p.Tyr492Cys,ENST00000334211,NM_015242.4;ARAP1,missense_variant,p.Tyr497Cys,ENST00000393605,;ARAP1,missense_variant,p.Tyr492Cys,ENST00000426523,;ARAP1,missense_variant,p.Tyr431Cys,ENST00000429686,NM_001135190.1;ARAP1,missense_variant,p.Tyr25Cys,ENST00000427971,;ARAP1,missense_variant,p.Tyr25Cys,ENST00000452383,;ARAP1,upstream_gene_variant,,ENST00000455638,;ARAP1-AS2,intron_variant,,ENST00000500163,;ARAP1,upstream_gene_variant,,ENST00000495878,;ARAP1,non_coding_transcript_exon_variant,,ENST00000465814,;ARAP1,upstream_gene_variant,,ENST00000546293,; C ENSG00000186635 ENST00000393609 Transcript missense_variant 2413/5145 2210/4353 737/1450 Y/C tAc/tGc 1 -1 ARAP1 HGNC HGNC:16925 protein_coding YES CCDS41687.1 ENSP00000377233 Q96P48 UPI000053F81B NM_001040118.2 deleterious(0.02) benign(0.062) 16/35 Gene3D:2.30.29.30,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF195,Superfamily_domains:SSF50729 MODERATE 1 SNV 2 PASS GTA . . 72701741 KMT2A . GRCh38 chr11 118436691 118436691 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.179T>G p.Val60Gly p.V60G ENST00000534358 1/36 66 52 6 54 50 0 KMT2A,missense_variant,p.Val60Gly,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Val60Gly,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Val60Gly,ENST00000531904,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000529852,;KMT2A,upstream_gene_variant,,ENST00000532204,;KMT2A,upstream_gene_variant,,ENST00000533790,;AP001267.2,upstream_gene_variant,,ENST00000532619,;,regulatory_region_variant,,ENSR00000045630,; G ENSG00000118058 ENST00000534358 Transcript missense_variant 202/16602 179/11919 60/3972 V/G gTg/gGg 1 1 KMT2A HGNC HGNC:7132 protein_coding YES CCDS55791.1 ENSP00000436786 Q03164 UPI0001E5E732 NM_001197104.1 tolerated_low_confidence(0.53) benign(0) 1/36 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTG . . 118436691 HMBS . GRCh38 chr11 119092480 119092481 + Frame_Shift_Del DEL CT CT - novel 7316-1751 BS_PTYP388A CT CT c.730_731del p.Leu244AlafsTer6 p.L244Afs*6 ENST00000278715 11/14 71 51 17 50 49 0 HMBS,frameshift_variant,p.Leu227AlafsTer6,ENST00000537841,;HMBS,frameshift_variant,p.Leu227AlafsTer6,ENST00000442944,;HMBS,frameshift_variant,p.Leu244AlafsTer6,ENST00000278715,NM_000190.3;HMBS,frameshift_variant,p.Leu227AlafsTer6,ENST00000392841,NM_001024382.1;HMBS,frameshift_variant,p.Leu213AlafsTer6,ENST00000543090,;HMBS,intron_variant,,ENST00000542729,NM_001258209.1;HMBS,intron_variant,,ENST00000544387,NM_001258208.1;DPAGT1,downstream_gene_variant,,ENST00000354202,NM_001382.3;DPAGT1,downstream_gene_variant,,ENST00000409993,;H2AFX,downstream_gene_variant,,ENST00000530167,NM_002105.2;HMBS,downstream_gene_variant,,ENST00000535253,;HMBS,downstream_gene_variant,,ENST00000536813,;HMBS,downstream_gene_variant,,ENST00000539986,;HMBS,downstream_gene_variant,,ENST00000546302,;DPAGT1,downstream_gene_variant,,ENST00000636404,;DPAGT1,downstream_gene_variant,,ENST00000639704,;HMBS,downstream_gene_variant,,ENST00000534956,;HMBS,downstream_gene_variant,,ENST00000536185,;HMBS,frameshift_variant,p.Cys181LeufsTer118,ENST00000640813,;HMBS,3_prime_UTR_variant,,ENST00000545621,;HMBS,non_coding_transcript_exon_variant,,ENST00000546226,;HMBS,non_coding_transcript_exon_variant,,ENST00000543543,;HMBS,non_coding_transcript_exon_variant,,ENST00000542044,;HMBS,non_coding_transcript_exon_variant,,ENST00000544182,;H2AFX,downstream_gene_variant,,ENST00000375167,;DPAGT1,downstream_gene_variant,,ENST00000392834,;DPAGT1,downstream_gene_variant,,ENST00000414373,;DPAGT1,downstream_gene_variant,,ENST00000442480,;DPAGT1,downstream_gene_variant,,ENST00000461999,;DPAGT1,downstream_gene_variant,,ENST00000481084,;DPAGT1,downstream_gene_variant,,ENST00000524658,;DPAGT1,downstream_gene_variant,,ENST00000525456,;HMBS,downstream_gene_variant,,ENST00000535793,;HMBS,upstream_gene_variant,,ENST00000539045,;HMBS,downstream_gene_variant,,ENST00000542345,;HMBS,downstream_gene_variant,,ENST00000542822,;HMBS,downstream_gene_variant,,ENST00000543821,;HMBS,downstream_gene_variant,,ENST00000544360,;HMBS,downstream_gene_variant,,ENST00000545901,;DPAGT1,downstream_gene_variant,,ENST00000638850,;DPAGT1,downstream_gene_variant,,ENST00000640102,;DPAGT1,downstream_gene_variant,,ENST00000640747,; - ENSG00000256269 ENST00000278715 Transcript frameshift_variant 879-880/1501 728-729/1086 243/361 T/X aCT/a 1 1 HMBS HGNC HGNC:4982 protein_coding YES CCDS8409.1 ENSP00000278715 P08397 UPI000012C47A NM_000190.3 11/14 HAMAP:MF_00260,cd13645,hmmpanther:PTHR11557,TIGRFAM_domain:TIGR00212,PIRSF_domain:PIRSF001438,Gene3D:3.30.160.40,Superfamily_domains:SSF54782 HIGH 1 deletion 1 2 1 PASS GACTC . . 119092479 OR6X1 . GRCh38 chr11 123753818 123753819 + Frame_Shift_Del DEL TT TT - novel 7316-1751 BS_PTYP388A TT TT c.700_701del p.Lys234AspfsTer33 p.K234Dfs*33 ENST00000327930 1/1 42 33 6 48 44 0 OR6X1,frameshift_variant,p.Lys234AspfsTer33,ENST00000327930,NM_001005188.1; - ENSG00000221931 ENST00000327930 Transcript frameshift_variant 727-728/1058 700-701/939 234/312 K/X AAg/g 1 -1 OR6X1 HGNC HGNC:14737 protein_coding YES CCDS31695.1 ENSP00000333724 Q8NH79 A0A126GVM0 UPI000004B1D5 NM_001005188.1 1/1 PROSITE_profiles:PS50262,cd15912,hmmpanther:PTHR26454:SF30,hmmpanther:PTHR26454,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245 HIGH 1 deletion PASS TCTTT . . 123753817 ARHGAP32 . GRCh38 chr11 128998397 128998397 + Missense_Mutation SNP G G C novel 7316-1751 BS_PTYP388A G G c.1075C>G p.Leu359Val p.L359V ENST00000310343 11/22 76 59 17 53 52 0 ARHGAP32,missense_variant,p.Leu359Val,ENST00000310343,NM_001142685.1;ARHGAP32,missense_variant,p.Leu285Val,ENST00000524655,;ARHGAP32,missense_variant,p.Leu10Val,ENST00000392657,NM_014715.3;ARHGAP32,missense_variant,p.Leu10Val,ENST00000527272,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000526162,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000533509,; C ENSG00000134909 ENST00000310343 Transcript missense_variant 1075/10111 1075/6264 359/2087 L/V Ctg/Gtg 1 -1 ARHGAP32 HGNC HGNC:17399 protein_coding YES CCDS44769.1 ENSP00000310561 A7KAX9 UPI000159C61F NM_001142685.1 deleterious(0.01) benign(0.114) 11/22 Gene3D:1.10.555.10,hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9 MODERATE 1 SNV 1 PASS AGC . . 128998397 WNK1 . GRCh38 chr12 885011 885011 + Missense_Mutation SNP G G A novel 7316-1751 BS_PTYP388A G G c.4963G>A p.Val1655Met p.V1655M ENST00000340908 19/28 125 101 23 41 41 0 WNK1,missense_variant,p.Val1816Met,ENST00000530271,;WNK1,missense_variant,p.Val1663Met,ENST00000537687,NM_001184985.1;WNK1,missense_variant,p.Val1655Met,ENST00000340908,NM_213655.4;WNK1,missense_variant,p.Val1403Met,ENST00000315939,NM_018979.3;WNK1,missense_variant,p.Val1156Met,ENST00000535572,NM_014823.2;WNK1,downstream_gene_variant,,ENST00000534872,;WNK1,downstream_gene_variant,,ENST00000535698,;WNK1,downstream_gene_variant,,ENST00000544965,;WNK1,downstream_gene_variant,,ENST00000545285,;WNK1,downstream_gene_variant,,ENST00000542543,;WNK1,downstream_gene_variant,,ENST00000545055,; A ENSG00000060237 ENST00000340908 Transcript missense_variant 5606/11208 4963/7905 1655/2634 V/M Gtg/Atg 1 1 WNK1 HGNC HGNC:14540 protein_coding YES CCDS73419.1 ENSP00000341292 Q9H4A3 UPI0001DD21C4 NM_213655.4 deleterious_low_confidence(0.01) benign(0.033) 19/28 hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS TGT . . 885011 NTF3 . GRCh38 chr12 5494572 5494572 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.397A>C p.Met133Leu p.M133L ENST00000423158 2/2 98 84 10 40 40 0 NTF3,missense_variant,p.Met133Leu,ENST00000423158,NM_001102654.1;NTF3,missense_variant,p.Met120Leu,ENST00000331010,NM_002527.4;NTF3,intron_variant,,ENST00000535299,;NTF3,downstream_gene_variant,,ENST00000543548,; C ENSG00000185652 ENST00000423158 Transcript missense_variant 609/1336 397/813 133/270 M/L Atg/Ctg 1 1 NTF3 HGNC HGNC:8023 protein_coding YES CCDS44806.1 ENSP00000397297 P20783 UPI0000D4F126 NM_001102654.1 tolerated(0.61) benign(0) 2/2 PIRSF_domain:PIRSF001789,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF4 MODERATE 1 SNV 1 PASS CAT . . 5494572 ATN1 . GRCh38 chr12 6937521 6937521 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.2254A>C p.Lys752Gln p.K752Q ENST00000356654 5/10 126 108 15 44 41 0 ATN1,missense_variant,p.Lys752Gln,ENST00000356654,NM_001007026.1;ATN1,missense_variant,p.Lys752Gln,ENST00000396684,NM_001940.3;ATN1,upstream_gene_variant,,ENST00000537488,;ATN1,upstream_gene_variant,,ENST00000541029,;,regulatory_region_variant,,ENSR00000048373,; C ENSG00000111676 ENST00000356654 Transcript missense_variant 2491/4351 2254/3573 752/1190 K/Q Aag/Cag 1 1 ATN1 HGNC HGNC:3033 protein_coding YES CCDS31734.1 ENSP00000349076 P54259 UPI000006F554 NM_001007026.1 deleterious_low_confidence(0.05) possibly_damaging(0.757) 5/10 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13859:SF9,hmmpanther:PTHR13859,Gene3D:1.10.880.10,Pfam_domain:PF03154 MODERATE 1 SNV 1 1 PASS CAA . . 6937521 PTPN6 . GRCh38 chr12 6956486 6956486 + Missense_Mutation SNP C C T novel 7316-1751 BS_PTYP388A C C c.992C>T p.Thr331Met p.T331M ENST00000456013 9/16 123 92 28 48 44 0 PTPN6,missense_variant,p.Thr331Met,ENST00000456013,NM_080549.3;PTPN6,missense_variant,p.Thr331Met,ENST00000318974,NM_002831.5;PTPN6,missense_variant,p.Thr333Met,ENST00000399448,NM_080548.4;PTPN6,downstream_gene_variant,,ENST00000538715,;PTPN6,downstream_gene_variant,,ENST00000541698,;PTPN6,downstream_gene_variant,,ENST00000542462,;PTPN6,downstream_gene_variant,,ENST00000543115,;PTPN6,downstream_gene_variant,,ENST00000534900,;PTPN6,upstream_gene_variant,,ENST00000537533,;PTPN6,upstream_gene_variant,,ENST00000539029,;PTPN6,downstream_gene_variant,,ENST00000540740,;PTPN6,downstream_gene_variant,,ENST00000542277,;PTPN6,downstream_gene_variant,,ENST00000543120,;PTPN6,non_coding_transcript_exon_variant,,ENST00000416215,;PTPN6,downstream_gene_variant,,ENST00000535462,;PTPN6,downstream_gene_variant,,ENST00000536013,;PTPN6,downstream_gene_variant,,ENST00000536521,;PTPN6,downstream_gene_variant,,ENST00000538318,;PTPN6,downstream_gene_variant,,ENST00000539365,;PTPN6,upstream_gene_variant,,ENST00000542761,;PTPN6,downstream_gene_variant,,ENST00000542848,;PTPN6,downstream_gene_variant,,ENST00000543744,;PTPN6,downstream_gene_variant,,ENST00000545153,; T ENSG00000111679 ENST00000456013 Transcript missense_variant 1234/2389 992/1875 331/624 T/M aCg/aTg 1 1 PTPN6 HGNC HGNC:9658 protein_coding YES CCDS44821.1 ENSP00000391592 P29350 UPI000014049A NM_080549.3 deleterious(0) probably_damaging(0.999) 9/16 Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000929,Prints_domain:PR00700,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF65,SMART_domains:SM00194,Superfamily_domains:SSF52799,cd00047 MODERATE 1 SNV 1 1 PASS ACG . . 6956486 A2M . GRCh38 chr12 9112155 9112155 + Splice_Region SNP T T C novel 7316-1751 BS_PTYP388A T T c.483+4A>G ENST00000318602 96 78 17 57 54 3 A2M,splice_region_variant,,ENST00000318602,NM_000014.4,NM_001347423.1;A2M,splice_region_variant,,ENST00000404455,;A2M,downstream_gene_variant,,ENST00000467091,;A2M,downstream_gene_variant,,ENST00000497324,;A2M,splice_region_variant,,ENST00000539638,; C ENSG00000175899 ENST00000318602 Transcript splice_region_variant,intron_variant 1 -1 A2M HGNC HGNC:7 protein_coding YES CCDS44827.1 ENSP00000323929 P01023 UPI000014038F NM_000014.4,NM_001347423.1 4/35 LOW 1 SNV 1 1 PASS CTC . . 9112155 PRB4 . GRCh38 chr12 11308844 11308844 + Missense_Mutation SNP G G T novel 7316-1751 BS_PTYP388A G G c.139C>A p.Pro47Thr p.P47T ENST00000279575 3/4 98 64 13 53 51 0 PRB4,missense_variant,p.Pro47Thr,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Pro47Thr,ENST00000535904,;PRB4,missense_variant,p.Pro47Thr,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Pro47Thr,ENST00000445719,; T ENSG00000230657 ENST00000279575 Transcript missense_variant 176/916 139/744 47/247 P/T Ccc/Acc 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.38) benign(0.007) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GGC . . 11308844 ABCC9 . GRCh38 chr12 21852402 21852402 + Missense_Mutation SNP G G T novel 7316-1751 BS_PTYP388A G G c.2609C>A p.Thr870Asn p.T870N ENST00000261200 21/38 103 87 16 44 43 1 ABCC9,missense_variant,p.Thr870Asn,ENST00000261200,NM_020297.3;ABCC9,missense_variant,p.Thr870Asn,ENST00000261201,NM_005691.3;ABCC9,missense_variant,p.Thr497Asn,ENST00000544039,;AC008250.1,intron_variant,,ENST00000539874,;,regulatory_region_variant,,ENSR00000049653,; T ENSG00000069431 ENST00000261200 Transcript missense_variant 2609/8293 2609/4650 870/1549 T/N aCt/aAt 1 -1 ABCC9 HGNC HGNC:60 protein_coding YES CCDS8693.1 ENSP00000261200 O60706 UPI000013D13F NM_020297.3 deleterious(0) probably_damaging(0.995) 21/38 Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF173,SMART_domains:SM00382,Superfamily_domains:SSF52540,cd03290 MODERATE SNV 5 1 PASS AGT . . 21852402 FGD4 . GRCh38 chr12 32564269 32564269 + Missense_Mutation SNP C C G novel 7316-1751 BS_PTYP388A C C c.224C>G p.Ala75Gly p.A75G ENST00000525053 2/17 85 54 31 26 26 0 FGD4,missense_variant,p.Ala100Gly,ENST00000534526,;FGD4,missense_variant,p.Ala75Gly,ENST00000525053,NM_001304480.1;FGD4,missense_variant,p.Ala48Gly,ENST00000531134,NM_001304481.1;FGD4,5_prime_UTR_variant,,ENST00000427716,NM_139241.3,NM_001330374.1,NM_001330373.1;FGD4,5_prime_UTR_variant,,ENST00000546442,NM_001304483.1,NM_001304484.1;FGD4,5_prime_UTR_variant,,ENST00000472289,;FGD4,5_prime_UTR_variant,,ENST00000583694,;FGD4,non_coding_transcript_exon_variant,,ENST00000473513,;FGD4,non_coding_transcript_exon_variant,,ENST00000550091,;FGD4,non_coding_transcript_exon_variant,,ENST00000497153,;FGD4,non_coding_transcript_exon_variant,,ENST00000479023,;FGD4,5_prime_UTR_variant,,ENST00000493087,;FGD4,5_prime_UTR_variant,,ENST00000395740,;FGD4,5_prime_UTR_variant,,ENST00000551984,;FGD4,non_coding_transcript_exon_variant,,ENST00000494275,; G ENSG00000139132 ENST00000525053 Transcript missense_variant 308/2925 224/2637 75/878 A/G gCt/gGt 1 1 FGD4 HGNC HGNC:19125 protein_coding YES CCDS76545.1 ENSP00000433666 E9PJX4 UPI0001F78470 NM_001304480.1 tolerated_low_confidence(0.18) benign(0.19) 2/17 hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF98,mobidb-lite MODERATE 1 SNV 2 1 PASS GCT . . 32564269 TROAP . GRCh38 chr12 49330620 49330620 + Missense_Mutation SNP A A T 7316-1751 BS_PTYP388A A A c.1775A>T p.Tyr592Phe p.Y592F ENST00000257909 13/15 82 57 7 47 43 0 TROAP,missense_variant,p.Tyr592Phe,ENST00000551245,;TROAP,missense_variant,p.Tyr592Phe,ENST00000257909,NM_005480.3;TROAP,intron_variant,,ENST00000547923,;C1QL4,downstream_gene_variant,,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000548817,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000551192,; T ENSG00000135451 ENST00000257909 Transcript missense_variant 1851/2527 1775/2337 592/778 Y/F tAc/tTc COSM1299466 1 1 TROAP HGNC HGNC:12327 protein_coding YES CCDS8784.1 ENSP00000257909 Q12815 UPI000007108A NM_005480.3 tolerated_low_confidence(0.69) benign(0.015) 13/15 hmmpanther:PTHR15289 1 MODERATE 1 SNV 1 1 PASS TAC . . 49330620 FAM186A . GRCh38 chr12 50353288 50353288 + Missense_Mutation SNP G G T rs1336929421 7316-1751 BS_PTYP388A G G c.3544C>A p.Pro1182Thr p.P1182T ENST00000327337 4/8 57 40 11 36 33 0 FAM186A,missense_variant,p.Pro1182Thr,ENST00000543111,;FAM186A,missense_variant,p.Pro1182Thr,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; T ENSG00000185958 ENST00000327337 Transcript missense_variant 3544/7127 3544/7056 1182/2351 P/T Cct/Act rs1336929421,COSM940343 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0.047) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 8.101e-06 6.425e-05 50353288 POU6F1 . GRCh38 chr12 51198583 51198583 + Nonsense_Mutation SNP C C A novel 7316-1751 BS_PTYP388A C C c.559G>T p.Gly187Ter p.G187* ENST00000333640 5/11 112 88 24 43 42 0 POU6F1,stop_gained,p.Gly187Ter,ENST00000333640,;POU6F1,stop_gained,p.Gly153Ter,ENST00000550824,;POU6F1,upstream_gene_variant,,ENST00000552305,;AC139768.1,downstream_gene_variant,,ENST00000620274,;POU6F1,non_coding_transcript_exon_variant,,ENST00000549309,;POU6F1,downstream_gene_variant,,ENST00000546685,;POU6F1,upstream_gene_variant,,ENST00000547855,;POU6F1,downstream_gene_variant,,ENST00000548692,;POU6F1,missense_variant,p.Gly157Val,ENST00000636728,;POU6F1,upstream_gene_variant,,ENST00000636068,;POU6F1,upstream_gene_variant,,ENST00000636119,NM_002702.3; A ENSG00000184271 ENST00000333640 Transcript stop_gained 636/2960 559/1836 187/611 G/* Gga/Tga 1 -1 POU6F1 HGNC HGNC:9224 protein_coding YES CCDS81691.1 ENSP00000330190 A0A1C7CYV8 UPI0007DC714F 5/11 hmmpanther:PTHR11636:SF6,hmmpanther:PTHR11636 HIGH 1 SNV 5 PASS CCC . . 51198583 LRP1 . GRCh38 chr12 57173931 57173931 + Nonsense_Mutation SNP T T A novel 7316-1751 BS_PTYP388A T T c.3498T>A p.Cys1166Ter p.C1166* ENST00000243077 22/89 123 100 17 48 47 0 LRP1,stop_gained,p.Cys1166Ter,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000553446,; A ENSG00000123384 ENST00000243077 Transcript stop_gained 3964/14897 3498/13635 1166/4544 C/* tgT/tgA 1 1 LRP1 HGNC HGNC:6692 protein_coding YES CCDS8932.1 ENSP00000243077 Q07954 UPI00001B044F NM_002332.2 22/89 Gene3D:4.10.400.10,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,hmmpanther:PTHR44025,hmmpanther:PTHR44025:SF2,SMART_domains:SM00192,Superfamily_domains:SSF57424,cd00112,Low_complexity_(Seg):seg HIGH 1 SNV 1 1 PASS GTG . . 57173931 C12orf45 . GRCh38 chr12 104986431 104986431 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.79A>C p.Lys27Gln p.K27Q ENST00000552951 1/4 115 103 9 30 30 0 C12orf45,missense_variant,p.Lys27Gln,ENST00000552951,NM_152318.2;C12orf45,missense_variant,p.Lys27Gln,ENST00000637147,;C12orf45,missense_variant,p.Lys27Gln,ENST00000622317,;C12orf45,missense_variant,p.Lys27Gln,ENST00000280749,;C12orf45,missense_variant,p.Lys27Gln,ENST00000547750,;,regulatory_region_variant,,ENSR00000056648,; C ENSG00000151131 ENST00000552951 Transcript missense_variant 122/23529 79/558 27/185 K/Q Aag/Cag 1 1 C12orf45 HGNC HGNC:28628 protein_coding YES CCDS41825.1 ENSP00000447057 Q8N5I9 UPI000013DC37 NM_152318.2 tolerated(0.5) benign(0) 1/4 mobidb-lite,hmmpanther:PTHR28674 MODERATE 1 SNV 1 PASS CAA . . 104986431 ANAPC7 . GRCh38 chr12 110382881 110382881 + Missense_Mutation SNP A A T novel 7316-1751 BS_PTYP388A A A c.999T>A p.Asn333Lys p.N333K ENST00000455511 7/11 76 47 28 52 51 0 ANAPC7,missense_variant,p.Asn333Lys,ENST00000455511,NM_016238.2;ANAPC7,missense_variant,p.Asn333Lys,ENST00000450008,NM_001137664.1;ANAPC7,upstream_gene_variant,,ENST00000552087,;ANAPC7,upstream_gene_variant,,ENST00000481473,;ANAPC7,downstream_gene_variant,,ENST00000546720,;ANAPC7,upstream_gene_variant,,ENST00000547199,;ANAPC7,non_coding_transcript_exon_variant,,ENST00000548234,;ANAPC7,non_coding_transcript_exon_variant,,ENST00000471602,;ANAPC7,upstream_gene_variant,,ENST00000452721,;ANAPC7,downstream_gene_variant,,ENST00000464697,;ANAPC7,upstream_gene_variant,,ENST00000486321,;AC144548.1,downstream_gene_variant,,ENST00000550231,;ANAPC7,downstream_gene_variant,,ENST00000552170,; T ENSG00000196510 ENST00000455511 Transcript missense_variant 1000/3045 999/1800 333/599 N/K aaT/aaA 1 -1 ANAPC7 HGNC HGNC:17380 protein_coding YES CCDS9145.2 ENSP00000394394 Q9UJX3 A0A024RBJ3 UPI0000EE28AF NM_016238.2 tolerated(0.86) benign(0.109) 7/11 PROSITE_profiles:PS50293,hmmpanther:PTHR12558,hmmpanther:PTHR12558:SF8,Gene3D:1.25.40.10 MODERATE 1 SNV 1 PASS TAT . . 110382881 DNAH10 . GRCh38 chr12 123870463 123870463 + Missense_Mutation SNP G G C rs775794178 7316-1751 BS_PTYP388A G G c.7263G>C p.Glu2421Asp p.E2421D ENST00000638045 43/78 109 92 14 49 49 0 DNAH10,missense_variant,p.Glu2482Asp,ENST00000409039,;DNAH10,missense_variant,p.Glu2421Asp,ENST00000638045,NM_207437.3;DNAH10,3_prime_UTR_variant,,ENST00000497783,; C ENSG00000197653 ENST00000638045 Transcript missense_variant 7288/13678 7263/13416 2421/4471 E/D gaG/gaC rs775794178 1 1 DNAH10 HGNC HGNC:2941 protein_coding YES CCDS9255.2 ENSP00000489675 Q8IVF4 UPI00014F7B89 NM_207437.3 tolerated(0.64) benign(0.001) 43/78 Gene3D:3.40.50.300,Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF343 MODERATE 1 SNV 5 PASS AGA . . 123870463 PAN3 . GRCh38 chr13 28138737 28138737 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.80T>G p.Val27Gly p.V27G ENST00000380958 1/19 34 22 6 25 24 1 PAN3,missense_variant,p.Val27Gly,ENST00000380958,NM_175854.7;PAN3,upstream_gene_variant,,ENST00000399613,;PAN3-AS1,upstream_gene_variant,,ENST00000563843,;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;,regulatory_region_variant,,ENSR00000060397,; G ENSG00000152520 ENST00000380958 Transcript missense_variant 232/2833 80/2664 27/887 V/G gTg/gGg 1 1 PAN3 HGNC HGNC:29991 protein_coding YES CCDS9329.2 ENSP00000370345 Q58A45 UPI0001BE8112 NM_175854.7 tolerated_low_confidence(0.16) benign(0.005) 1/19 Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 28138737 PAN3 . GRCh38 chr13 28138740 28138740 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.83T>G p.Val28Gly p.V28G ENST00000380958 1/19 32 20 6 25 24 1 PAN3,missense_variant,p.Val28Gly,ENST00000380958,NM_175854.7;PAN3,upstream_gene_variant,,ENST00000399613,;PAN3-AS1,upstream_gene_variant,,ENST00000563843,;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;,regulatory_region_variant,,ENSR00000060397,; G ENSG00000152520 ENST00000380958 Transcript missense_variant 235/2833 83/2664 28/887 V/G gTg/gGg 1 1 PAN3 HGNC HGNC:29991 protein_coding YES CCDS9329.2 ENSP00000370345 Q58A45 UPI0001BE8112 NM_175854.7 deleterious_low_confidence(0.02) benign(0.005) 1/19 Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 28138740 RBM26 . GRCh38 chr13 79371938 79371938 + Splice_Region SNP A A T rs75080993 7316-1751 BS_PTYP388A A A c.328-8T>A ENST00000622611 59 52 6 43 39 1 RBM26,splice_region_variant,,ENST00000267229,NM_022118.4;RBM26,splice_region_variant,,ENST00000438724,NM_001286632.1;RBM26,splice_region_variant,,ENST00000438737,;RBM26,splice_region_variant,,ENST00000622611,NM_001286631.1;RBM26,downstream_gene_variant,,ENST00000472143,; T ENSG00000139746 ENST00000622611 Transcript splice_region_variant,intron_variant rs75080993 1 -1 RBM26 HGNC HGNC:20327 protein_coding YES CCDS73591.1 ENSP00000483408 A0A087X0H9 UPI00016378C8 NM_001286631.1 3/21 LOW 1 SNV 2 PASS AAA . . 0.01184 0.1043 0.006613 0.005754 0.0005709 0.005819 0.005486 0.00784 0.004722 79371938 CCDC168 . GRCh38 chr13 102745017 102745018 + Frame_Shift_Ins INS - - TG novel 7316-1751 BS_PTYP388A - - c.5678_5679dup p.Val1894GlnfsTer2 p.V1894Qfs*2 ENST00000322527 4/4 67 18 42 38 37 0 CCDC168,frameshift_variant,p.Val1894GlnfsTer2,ENST00000322527,NM_001146197.1;LINC00283,non_coding_transcript_exon_variant,,ENST00000430111,; TG ENSG00000175820 ENST00000322527 Transcript frameshift_variant 5817-5818/21466 5679-5680/21246 1893-1894/7081 -/X -/CA 1 -1 CCDC168 HGNC HGNC:26851 protein_coding YES CCDS73596.1 ENSP00000320232 Q8NDH2 UPI0001991308 NM_001146197.1 4/4 HIGH 1 insertion 3 PASS ACT . . 102745017 POTEG . GRCh38 chr14 19434005 19434005 + Missense_Mutation SNP C C G novel 7316-1751 BS_PTYP388A C C c.285G>C p.Arg95Ser p.R95S ENST00000547848 1/11 179 142 13 102 98 0 POTEG,missense_variant,p.Arg95Ser,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Arg95Ser,ENST00000547722,;POTEG,missense_variant,p.Arg95Ser,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; G ENSG00000187537 ENST00000547848 Transcript missense_variant 337/2204 285/1527 95/508 R/S agG/agC 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 tolerated_low_confidence(0.14) possibly_damaging(0.724) 1/11 Gene3D:1.25.40.20,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 MODERATE 1 SNV 1 PASS TCC . . 19434005 TGM1 . GRCh38 chr14 24260488 24260488 + Missense_Mutation SNP C C T rs138574046 7316-1751 BS_PTYP388A C C c.719G>A p.Arg240His p.R240H ENST00000206765 4/15 78 37 39 40 37 0 TGM1,missense_variant,p.Arg240His,ENST00000206765,NM_000359.2;TGM1,intron_variant,,ENST00000544573,;TGM1,downstream_gene_variant,,ENST00000558074,;TGM1,upstream_gene_variant,,ENST00000559136,;TGM1,downstream_gene_variant,,ENST00000560226,;TGM1,downstream_gene_variant,,ENST00000560443,;TGM1,downstream_gene_variant,,ENST00000560478,;TGM1,downstream_gene_variant,,ENST00000561067,; T ENSG00000092295 ENST00000206765 Transcript missense_variant 843/2777 719/2454 240/817 R/H cGc/cAc rs138574046,COSM954995 1 -1 TGM1 HGNC HGNC:11777 protein_coding YES CCDS9622.1 ENSP00000206765 P22735 UPI000000164D NM_000359.2 tolerated(0.16) benign(0) 4/15 hmmpanther:PTHR11590:SF49,hmmpanther:PTHR11590,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,Superfamily_domains:SSF81296 0.000227 0.0003488 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 6.092e-05 0.0001307 5.956e-05 8.953e-05 3.249e-05 24260488 NYNRIN . GRCh38 chr14 24408726 24408726 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.932A>C p.Asp311Ala p.D311A ENST00000382554 4/9 94 75 18 39 38 0 NYNRIN,missense_variant,p.Asp311Ala,ENST00000382554,NM_025081.2;NYNRIN,upstream_gene_variant,,ENST00000554505,; C ENSG00000205978 ENST00000382554 Transcript missense_variant 1250/7857 932/5697 311/1898 D/A gAc/gCc 1 1 NYNRIN HGNC HGNC:20165 protein_coding YES CCDS45090.1 ENSP00000371994 Q9P2P1 UPI0000251E63 NM_025081.2 tolerated_low_confidence(0.08) benign(0.001) 4/9 mobidb-lite,hmmpanther:PTHR12876:SF2,hmmpanther:PTHR12876 MODERATE 1 SNV 5 PASS GAC . . 24408726 FOXG1 . GRCh38 chr14 28767560 28767560 + Missense_Mutation SNP A A C rs1206977063 7316-1751 BS_PTYP388A A A c.281A>C p.Asp94Ala p.D94A ENST00000313071 1/1 84 71 8 35 34 0 FOXG1,missense_variant,p.Asp94Ala,ENST00000313071,NM_005249.4;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000637351,;FOXG1,downstream_gene_variant,,ENST00000637817,;,regulatory_region_variant,,ENSR00000067057,; C ENSG00000176165 ENST00000313071 Transcript missense_variant 2173/4890 281/1470 94/489 D/A gAc/gCc rs1206977063 1 1 FOXG1 HGNC HGNC:3811 protein_coding YES CCDS9636.1 ENSP00000339004 P55316 UPI00001AE46C NM_005249.4 deleterious_low_confidence(0.02) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,Superfamily_domains:SSF81995,hmmpanther:PTHR11829:SF316,hmmpanther:PTHR11829 MODERATE SNV 1 PASS GAC . . 28767560 KLHL28 . GRCh38 chr14 44945844 44945846 + In_Frame_Del DEL GAA GAA - novel 7316-1751 BS_PTYP388A GAA GAA c.125_127del p.Leu42del p.L42del ENST00000355081 2/5 80 40 31 47 46 0 KLHL28,inframe_deletion,p.Leu28del,ENST00000396128,NM_017658.4;KLHL28,inframe_deletion,p.Leu42del,ENST00000355081,NM_001308112.1;KLHL28,inframe_deletion,p.Leu28del,ENST00000556500,;KLHL28,inframe_deletion,p.Leu28del,ENST00000579157,;KLHL28,inframe_deletion,p.Leu28del,ENST00000557468,;KLHL28,inframe_deletion,p.Leu28del,ENST00000556239,;,regulatory_region_variant,,ENSR00000067968,; - ENSG00000179454 ENST00000355081 Transcript inframe_deletion 329-331/2177 125-127/1758 42-43/585 LR/R cTTCgc/cgc 1 -1 KLHL28 HGNC HGNC:19741 protein_coding YES CCDS76675.1 ENSP00000347193 J3KNY7 UPI0000E59B43 NM_001308112.1 2/5 Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF30,Superfamily_domains:SSF54695 MODERATE 1 deletion 1 PASS GCGAAG . . 44945843 SIX4 . GRCh38 chr14 60724016 60724016 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.59A>C p.Asn20Thr p.N20T ENST00000216513 1/3 56 48 6 45 44 0 SIX4,missense_variant,p.Asn20Thr,ENST00000216513,NM_017420.4;SIX4,missense_variant,p.Asn12Thr,ENST00000556952,;SIX4,upstream_gene_variant,,ENST00000554079,;,regulatory_region_variant,,ENSR00000069258,; G ENSG00000100625 ENST00000216513 Transcript missense_variant 119/6285 59/2346 20/781 N/T aAt/aCt 1 -1 SIX4 HGNC HGNC:10890 protein_coding YES CCDS9749.2 ENSP00000216513 Q9UIU6 UPI000066D924 NM_017420.4 deleterious_low_confidence(0) possibly_damaging(0.515) 1/3 mobidb-lite,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF36 MODERATE 1 SNV 1 PASS ATT . . 60724016 SGPP1 . GRCh38 chr14 63727673 63727673 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.272A>C p.Asn91Thr p.N91T ENST00000247225 1/3 80 67 12 48 47 0 SGPP1,missense_variant,p.Asn91Thr,ENST00000247225,NM_030791.3;,regulatory_region_variant,,ENSR00000069545,; G ENSG00000126821 ENST00000247225 Transcript missense_variant 367/3312 272/1326 91/441 N/T aAc/aCc 1 -1 SGPP1 HGNC HGNC:17720 protein_coding YES CCDS9760.1 ENSP00000247225 Q9BX95 UPI000006DEB2 NM_030791.3 tolerated(0.34) benign(0.242) 1/3 mobidb-lite,hmmpanther:PTHR14969,hmmpanther:PTHR14969:SF16,Gene3D:1.20.144.10 MODERATE 1 SNV 1 PASS GTT . . 63727673 NPAP1 . GRCh38 chr15 24676013 24676013 + Missense_Mutation SNP G G C novel 7316-1751 BS_PTYP388A G G c.146G>C p.Gly49Ala p.G49A ENST00000329468 1/1 68 54 11 39 38 0 NPAP1,missense_variant,p.Gly49Ala,ENST00000329468,NM_018958.2; C ENSG00000185823 ENST00000329468 Transcript missense_variant 146/7526 146/3471 49/1156 G/A gGc/gCc 1 1 NPAP1 HGNC HGNC:1190 protein_coding YES CCDS10015.1 ENSP00000333735 Q9NZP6 UPI00001AFA1B NM_018958.2 tolerated(1) benign(0.001) 1/1 hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GGC . . 24676013 PDCD7 . GRCh38 chr15 65133090 65133090 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.692A>C p.Tyr231Ser p.Y231S ENST00000204549 1/5 82 70 9 34 34 0 PDCD7,missense_variant,p.Tyr231Ser,ENST00000204549,NM_005707.1;PDCD7,upstream_gene_variant,,ENST00000560313,;,regulatory_region_variant,,ENSR00000078048,; G ENSG00000090470 ENST00000204549 Transcript missense_variant 747/2851 692/1458 231/485 Y/S tAt/tCt 1 -1 PDCD7 HGNC HGNC:8767 protein_coding YES CCDS10201.1 ENSP00000204549 Q8N8D1 Q6IEG3 UPI00000731D7 NM_005707.1 tolerated(0.36) benign(0.026) 1/5 Pfam_domain:PF16021,hmmpanther:PTHR44604 MODERATE 1 SNV 1 PASS ATA . . 65133090 NPTN . GRCh38 chr15 73633127 73633127 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.89A>C p.Asn30Thr p.N30T ENST00000345330 1/9 88 70 12 50 50 0 NPTN,missense_variant,p.Asn30Thr,ENST00000351217,NM_017455.3;NPTN,missense_variant,p.Asn30Thr,ENST00000345330,NM_012428.3;NPTN,missense_variant,p.Asn30Thr,ENST00000563691,NM_001161363.1;NPTN,missense_variant,p.Asn30Thr,ENST00000562924,NM_001161364.1;NPTN,missense_variant,p.Asn30Thr,ENST00000565325,;NPTN,upstream_gene_variant,,ENST00000565282,;NPTN,upstream_gene_variant,,ENST00000567198,;NPTN,splice_region_variant,,ENST00000564551,;NPTN,splice_region_variant,,ENST00000563753,;,regulatory_region_variant,,ENSR00000079121,; G ENSG00000156642 ENST00000345330 Transcript missense_variant,splice_region_variant 287/2444 89/1197 30/398 N/T aAc/aCc 1 -1 NPTN HGNC HGNC:17867 protein_coding YES CCDS10249.1 ENSP00000290401 Q9Y639 UPI0000072D5C NM_012428.3 tolerated(1) benign(0.025) 1/9 PROSITE_profiles:PS50835,hmmpanther:PTHR10075:SF5,hmmpanther:PTHR10075,PIRSF_domain:PIRSF000615,Gene3D:2.60.40.10 MODERATE 1 SNV 1 PASS GTT . . 73633127 NAGPA . GRCh38 chr16 5027344 5027344 + Frame_Shift_Del DEL T T - novel 7316-1751 BS_PTYP388A T T c.1210del p.Arg404GlyfsTer23 p.R404Gfs*23 ENST00000312251 8/10 94 60 28 47 47 0 NAGPA,frameshift_variant,p.Arg404GlyfsTer23,ENST00000312251,NM_016256.3;NAGPA,intron_variant,,ENST00000381955,;NAGPA,intron_variant,,ENST00000563578,;NAGPA,downstream_gene_variant,,ENST00000562346,;NAGPA-AS1,intron_variant,,ENST00000588778,;NAGPA,downstream_gene_variant,,ENST00000564922,;NAGPA,downstream_gene_variant,,ENST00000568528,;NAGPA,downstream_gene_variant,,ENST00000569793,;NAGPA,downstream_gene_variant,,ENST00000591478,;NAGPA,3_prime_UTR_variant,,ENST00000562746,;NAGPA,3_prime_UTR_variant,,ENST00000569296,;NAGPA,3_prime_UTR_variant,,ENST00000565876,;NAGPA,non_coding_transcript_exon_variant,,ENST00000564397,;NAGPA,non_coding_transcript_exon_variant,,ENST00000568202,;NAGPA,non_coding_transcript_exon_variant,,ENST00000567739,;NAGPA,non_coding_transcript_exon_variant,,ENST00000566137,;NAGPA,downstream_gene_variant,,ENST00000561580,;NAGPA,downstream_gene_variant,,ENST00000562037,; - ENSG00000103174 ENST00000312251 Transcript frameshift_variant 1230/2202 1210/1548 404/515 R/X Agg/gg 1 -1 NAGPA HGNC HGNC:17378 protein_coding YES CCDS10527.1 ENSP00000310998 Q9UK23 UPI000013F295 NM_016256.3 8/10 hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF7 HIGH 1 deletion 1 PASS CCTC . . 5027343 PRM3 . GRCh38 chr16 11273490 11273490 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.106A>C p.Met36Leu p.M36L ENST00000327157 1/1 97 83 13 41 40 0 PRM3,missense_variant,p.Met36Leu,ENST00000327157,NM_021247.2;RMI2,intron_variant,,ENST00000572173,;PRM2,downstream_gene_variant,,ENST00000241808,NM_001286359.1,NM_002762.3,NM_001286357.1;TNP2,upstream_gene_variant,,ENST00000312693,NM_005425.4;PRM2,downstream_gene_variant,,ENST00000435245,NM_001286358.1,NM_001286356.1;TNP2,upstream_gene_variant,,ENST00000560751,;RF00554,downstream_gene_variant,,ENST00000390926,;RMI2,intron_variant,,ENST00000573910,;,regulatory_region_variant,,ENSR00000083302,; G ENSG00000178257 ENST00000327157 Transcript missense_variant 152/424 106/312 36/103 M/L Atg/Ctg 1 -1 PRM3 HGNC HGNC:13732 protein_coding YES CCDS76821.1 ENSP00000325638 Q9NNZ6 UPI0000141B11 NM_021247.2 tolerated_low_confidence(0.2) benign(0) 1/1 hmmpanther:PTHR14317,mobidb-lite MODERATE SNV PASS ATG . . 11273490 ATXN2L . GRCh38 chr16 28835988 28835988 + Missense_Mutation SNP A A C rs753106755 7316-1751 BS_PTYP388A A A c.2951A>C p.His984Pro p.H984P ENST00000395547 22/24 72 55 12 41 41 0 ATXN2L,missense_variant,p.His984Pro,ENST00000336783,NM_007245.3;ATXN2L,missense_variant,p.His984Pro,ENST00000395547,NM_148414.2;ATXN2L,missense_variant,p.His984Pro,ENST00000340394,NM_148415.2;ATXN2L,missense_variant,p.His984Pro,ENST00000325215,NM_145714.2;ATXN2L,missense_variant,p.His984Pro,ENST00000382686,NM_148416.2;ATXN2L,missense_variant,p.His984Pro,ENST00000570200,NM_017492.3;ATXN2L,missense_variant,p.His990Pro,ENST00000564304,NM_001308230.1;ATXN2L,missense_variant,p.His310Pro,ENST00000566946,;ATXN2L,missense_variant,p.His49Pro,ENST00000564162,;ATXN2L,missense_variant,p.His158Pro,ENST00000569318,;ATXN2L,missense_variant,p.His74Pro,ENST00000566007,;ATXN2L,upstream_gene_variant,,ENST00000567024,;AC133550.1,intron_variant,,ENST00000563565,;ATXN2L,downstream_gene_variant,,ENST00000565845,;ATXN2L,downstream_gene_variant,,ENST00000570284,;ATXN2L,missense_variant,p.His309Pro,ENST00000562583,;ATXN2L,3_prime_UTR_variant,,ENST00000565971,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000563314,;ATXN2L,downstream_gene_variant,,ENST00000561732,;ATXN2L,downstream_gene_variant,,ENST00000562686,;ATXN2L,downstream_gene_variant,,ENST00000564035,; C ENSG00000168488 ENST00000395547 Transcript missense_variant 3118/3981 2951/3294 984/1097 H/P cAc/cCc rs753106755,COSM5989165,COSM5989164,COSM5989163,COSM5989162 1 1 ATXN2L HGNC HGNC:31326 protein_coding YES CCDS10640.1 ENSP00000378917 Q8WWM7 UPI000016783F NM_148414.2 tolerated(0.08) possibly_damaging(0.548) 22/24 hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF8,Low_complexity_(Seg):seg 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS CAC . . 5.833e-05 0.0002173 7.984e-05 28835988 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-1751 BS_PTYP388A T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 51 35 11 36 35 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 TP53 . GRCh38 chr17 7675994 7675994 + Splice_Region SNP C C T rs55863639 7316-1751 BS_PTYP388A C C c.375G>A p.Thr125= p.T125= ENST00000269305 4/11 57 23 33 45 45 0 TP53,splice_region_variant,p.Thr125=,ENST00000617185,NM_001126114.2;TP53,splice_region_variant,p.Thr125=,ENST00000420246,;TP53,splice_region_variant,p.Thr86=,ENST00000622645,NM_001276696.1;TP53,splice_region_variant,p.Thr86=,ENST00000610292,NM_001126118.1;TP53,splice_region_variant,p.Thr125=,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,splice_region_variant,p.Thr86=,ENST00000610538,;TP53,splice_region_variant,p.Thr125=,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,splice_region_variant,p.Thr86=,ENST00000620739,;TP53,splice_region_variant,p.Thr125=,ENST00000445888,;TP53,splice_region_variant,p.Thr86=,ENST00000619485,;TP53,splice_region_variant,p.Thr125=,ENST00000359597,;TP53,splice_region_variant,p.Thr125=,ENST00000413465,;TP53,splice_region_variant,p.Thr125=,ENST00000508793,;TP53,splice_region_variant,p.Thr125=,ENST00000604348,;TP53,splice_region_variant,p.Thr125=,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,intron_variant,,ENST00000615910,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,upstream_gene_variant,,ENST00000618944,;TP53,upstream_gene_variant,,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_region_variant,p.Thr86=,ENST00000635293,;TP53,splice_region_variant,,ENST00000505014,; T ENSG00000141510 ENST00000269305 Transcript splice_region_variant,synonymous_variant 565/2579 375/1182 125/393 T acG/acA rs55863639,CS004351,CS011573,CS971913,TP53_g.11606G>A,COSM46152,COSM45940,COSM43904,COSM437622,COSM437621,COSM4070058,COSM4070057,COSM381996,COSM381995,COSM3403299,COSM3388231,COSM292894,COSM292893,COSM2744976,COSM1638003 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 4/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 likely_pathogenic,pathogenic 0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 11420676,25730903 LOW 1 SNV 1 1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS CCG . . 7675994 MYH1 . GRCh38 chr17 10512788 10512788 + Splice_Region SNP G G T rs923750276 7316-1751 BS_PTYP388A G G c.905-4C>A ENST00000226207 63 45 18 54 53 0 MYH1,splice_region_variant,,ENST00000226207,NM_005963.3;AC005323.2,intron_variant,,ENST00000399342,;AC005323.2,intron_variant,,ENST00000581304,;MYHAS,intron_variant,,ENST00000587182,; T ENSG00000109061 ENST00000226207 Transcript splice_region_variant,intron_variant rs923750276 1 -1 MYH1 HGNC HGNC:7567 protein_coding YES CCDS11155.1 ENSP00000226207 P12882 UPI000013C891 NM_005963.3 10/39 LOW SNV 5 PASS GGG . . 8.124e-06 6.535e-05 0.0001824 10512788 USP22 . GRCh38 chr17 21042834 21042834 + Translation_Start_Site SNP A A C rs1390944507 7316-1751 BS_PTYP388A A A c.2T>G p.Met1? p.M1? ENST00000261497 1/13 69 57 11 48 48 0 USP22,start_lost,p.Met1?,ENST00000261497,NM_015276.1;USP22,intron_variant,,ENST00000537526,;USP22,intron_variant,,ENST00000584538,;USP22,upstream_gene_variant,,ENST00000476111,;USP22,intron_variant,,ENST00000455117,;USP22,intron_variant,,ENST00000579645,;,regulatory_region_variant,,ENSR00000092418,; C ENSG00000124422 ENST00000261497 Transcript start_lost 206/5220 2/1578 1/525 M/R aTg/aGg rs1390944507 1 -1 USP22 HGNC HGNC:12621 protein_coding YES CCDS42285.1 ENSP00000261497 Q9UPT9 UPI00001C1FC6 NM_015276.1 deleterious_low_confidence(0) benign(0) 1/13 hmmpanther:PTHR43961:SF1,hmmpanther:PTHR43961 HIGH 1 SNV 1 PASS CAT . . 2.217e-05 5.406e-05 21042834 UBTF . GRCh38 chr17 44210792 44210794 + In_Frame_Del DEL CTT CTT - rs1273318531 7316-1751 BS_PTYP388A CTT CTT c.1357_1359del p.Lys453del p.K453del ENST00000302904 13/21 101 30 60 45 42 0 UBTF,inframe_deletion,p.Lys453del,ENST00000302904,;UBTF,inframe_deletion,p.Lys416del,ENST00000343638,NM_001076683.1;UBTF,inframe_deletion,p.Lys416del,ENST00000533177,;UBTF,inframe_deletion,p.Lys416del,ENST00000527034,;UBTF,inframe_deletion,p.Lys453del,ENST00000436088,NM_014233.3;UBTF,inframe_deletion,p.Lys416del,ENST00000393606,NM_001076684.2;UBTF,inframe_deletion,p.Lys453del,ENST00000529383,;UBTF,inframe_deletion,p.Lys416del,ENST00000526094,;UBTF,inframe_deletion,p.Lys40del,ENST00000529373,;UBTF,downstream_gene_variant,,ENST00000530828,;MIR6782,upstream_gene_variant,,ENST00000619539,;AC004596.1,intron_variant,,ENST00000586560,;UBTF,downstream_gene_variant,,ENST00000537550,;UBTF,downstream_gene_variant,,ENST00000529042,;UBTF,upstream_gene_variant,,ENST00000529947,;UBTF,upstream_gene_variant,,ENST00000531368,;,regulatory_region_variant,,ENSR00000094732,; - ENSG00000108312 ENST00000302904 Transcript inframe_deletion,splice_region_variant 1850-1852/4997 1357-1359/2295 453/764 K/- AAG/- rs1273318531 1 -1 UBTF HGNC HGNC:12511 protein_coding YES CCDS11480.1 ENSP00000302640 P17480 UPI000013797C 13/21 Low_complexity_(Seg):seg,PROSITE_profiles:PS50118,cd01390,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF216,Gene3D:1.10.30.10,Pfam_domain:PF00505,SMART_domains:SM00398,Superfamily_domains:SSF47095 MODERATE 1 deletion 2 1 PASS ACCTTC . . 44210791 SMURF2 . GRCh38 chr17 64661855 64661855 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.26A>C p.Asn9Thr p.N9T ENST00000262435 1/19 50 28 14 37 36 1 SMURF2,missense_variant,p.Asn9Thr,ENST00000262435,NM_022739.3;SMURF2,missense_variant,p.Asn9Thr,ENST00000585301,;SMURF2,upstream_gene_variant,,ENST00000578200,;SMURF2,missense_variant,p.Asn9Thr,ENST00000582081,;SMURF2,missense_variant,p.Asn9Thr,ENST00000578386,;,regulatory_region_variant,,ENSR00000096996,; G ENSG00000108854 ENST00000262435 Transcript missense_variant 214/2918 26/2247 9/748 N/T aAc/aCc 1 -1 SMURF2 HGNC HGNC:16809 protein_coding YES CCDS32707.1 ENSP00000262435 Q9HAU4 UPI00001361C5 NM_022739.3 tolerated(0.09) benign(0) 1/19 hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF300,PIRSF_domain:PIRSF001569 MODERATE 1 SNV 1 PASS GTT . . 64661855 REXO1 . GRCh38 chr19 1827182 1827182 + Missense_Mutation SNP G G A rs765275753 7316-1751 BS_PTYP388A G G c.1607C>T p.Pro536Leu p.P536L ENST00000170168 2/16 112 99 13 42 42 0 REXO1,missense_variant,p.Pro536Leu,ENST00000170168,NM_020695.3;AC012615.6,downstream_gene_variant,,ENST00000587741,;AC012615.6,downstream_gene_variant,,ENST00000590531,;AC012615.6,downstream_gene_variant,,ENST00000593201,;REXO1,downstream_gene_variant,,ENST00000587524,;AC012615.6,downstream_gene_variant,,ENST00000590823,;,regulatory_region_variant,,ENSR00000105752,; A ENSG00000079313 ENST00000170168 Transcript missense_variant 1712/4591 1607/3666 536/1221 P/L cCg/cTg rs765275753 1 -1 REXO1 HGNC HGNC:24616 protein_coding YES CCDS32866.1 ENSP00000170168 Q8N1G1 UPI0000202F63 NM_020695.3 tolerated(0.11) probably_damaging(0.92) 2/16 mobidb-lite MODERATE 1 SNV 1 PASS CGG . . 3.023e-05 8.45e-05 0.0001003 2.011e-05 1827182 PEAK3 . GRCh38 chr19 2275915 2275915 + Missense_Mutation SNP T T A novel 7316-1751 BS_PTYP388A T T c.1187A>T p.Gln396Leu p.Q396L ENST00000342063 4/4 80 70 7 51 51 0 PEAK3,missense_variant,p.Gln396Leu,ENST00000342063,NM_198532.2;OAZ1,downstream_gene_variant,,ENST00000582888,;OAZ1,downstream_gene_variant,,ENST00000588673,;OAZ1,downstream_gene_variant,,ENST00000602676,NM_001301020.1,NM_004152.3;AC005258.1,intron_variant,,ENST00000621615,;OAZ1,downstream_gene_variant,,ENST00000581150,;OAZ1,downstream_gene_variant,,ENST00000586054,;OAZ1,downstream_gene_variant,,ENST00000589361,;OAZ1,downstream_gene_variant,,ENST00000589739,;OAZ1,downstream_gene_variant,,ENST00000590943,;OAZ1,downstream_gene_variant,,ENST00000592727,;OAZ1,downstream_gene_variant,,ENST00000592787,;OAZ1,downstream_gene_variant,,ENST00000593012,; A ENSG00000188305 ENST00000342063 Transcript missense_variant 1281/2574 1187/1422 396/473 Q/L cAg/cTg 1 -1 PEAK3 HGNC HGNC:24793 protein_coding YES CCDS12087.1 ENSP00000345102 Q6ZS72 UPI00001C0E91 NM_198532.2 deleterious(0) probably_damaging(0.994) 4/4 Gene3D:3.90.1200.10,hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF6 MODERATE 1 SNV 2 PASS CTG . . 2275915 MLLT1 . GRCh38 chr19 6222426 6222426 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.805A>C p.Lys269Gln p.K269Q ENST00000252674 6/12 66 51 13 38 38 0 MLLT1,missense_variant,p.Lys269Gln,ENST00000252674,NM_005934.3; G ENSG00000130382 ENST00000252674 Transcript missense_variant 969/4507 805/1680 269/559 K/Q Aag/Cag 1 -1 MLLT1 HGNC HGNC:7134 protein_coding YES CCDS12160.1 ENSP00000252674 Q03111 UPI000006F7B3 NM_005934.3 tolerated(0.37) possibly_damaging(0.723) 6/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23195:SF14,hmmpanther:PTHR23195 MODERATE 1 SNV 1 1 PASS TTG . . 6222426 MUC16 . GRCh38 chr19 8937504 8937504 + Missense_Mutation SNP T T A novel 7316-1751 BS_PTYP388A T T c.33451A>T p.Met11151Leu p.M11151L ENST00000397910 5/84 94 80 6 50 49 0 MUC16,missense_variant,p.Met11151Leu,ENST00000397910,NM_024690.2; A ENSG00000181143 ENST00000397910 Transcript missense_variant 33655/43816 33451/43524 11151/14507 M/L Atg/Ttg 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0) 5/84 hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 MODERATE 1 SNV 5 1 PASS ATT . . 8937504 SMARCA4 . GRCh38 chr19 11033309 11033309 + Missense_Mutation SNP G G A 7316-1751 BS_PTYP388A G G c.3566G>A p.Arg1189Gln p.R1189Q ENST00000344626 26/35 96 77 17 52 52 0 SMARCA4,missense_variant,p.Arg1189Gln,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000644737,;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000646693,NM_001128849.1;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000590574,;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000642726,;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000642628,;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000643549,;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000646510,;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000646484,NM_001128847.1;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000643296,NM_001128845.1;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000647230,;SMARCA4,missense_variant,p.Arg1253Gln,ENST00000413806,;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000450717,;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000645460,NM_001128848.1;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000444061,;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000589677,NM_001128846.1;SMARCA4,missense_variant,p.Arg1189Gln,ENST00000541122,;SMARCA4,missense_variant,p.Arg994Gln,ENST00000643995,;SMARCA4,missense_variant,p.Arg738Gln,ENST00000644963,;SMARCA4,missense_variant,p.Arg708Gln,ENST00000643208,;SMARCA4,missense_variant,p.Arg765Gln,ENST00000644065,;SMARCA4,missense_variant,p.Arg684Gln,ENST00000642350,;SMARCA4,missense_variant,p.Arg623Gln,ENST00000646746,;SMARCA4,missense_variant,p.Arg641Gln,ENST00000643857,;SMARCA4,missense_variant,p.Arg640Gln,ENST00000647268,;SMARCA4,missense_variant,p.Arg638Gln,ENST00000646183,;SMARCA4,missense_variant,p.Arg618Gln,ENST00000643534,;SMARCA4,missense_variant,p.Arg310Gln,ENST00000642508,;SMARCA4,missense_variant,p.Arg39Gln,ENST00000645236,;SMARCA4,upstream_gene_variant,,ENST00000538456,;SMARCA4,upstream_gene_variant,,ENST00000586985,;SMARCA4,downstream_gene_variant,,ENST00000591545,;SMARCA4,upstream_gene_variant,,ENST00000592158,;RF02271,upstream_gene_variant,,ENST00000620113,;SMARCA4,missense_variant,p.Arg780Gln,ENST00000644327,;SMARCA4,missense_variant,p.Arg685Gln,ENST00000645061,;SMARCA4,3_prime_UTR_variant,,ENST00000645648,;SMARCA4,3_prime_UTR_variant,,ENST00000646593,;SMARCA4,3_prime_UTR_variant,,ENST00000646236,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000644267,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000586892,;SMARCA4,downstream_gene_variant,,ENST00000644290,; A ENSG00000127616 ENST00000344626 Transcript missense_variant 3947/5791 3566/4944 1189/1647 R/Q cGa/cAa COSM6925261,COSM6925260,COSM4728294,COSM126317 1 1 SMARCA4 HGNC HGNC:11100 protein_coding YES CCDS12253.1 ENSP00000343896 P51532 A7E2E1 UPI000006F973 NM_003072.3 deleterious(0) probably_damaging(0.999) 26/35 Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,SMART_domains:SM00490,Superfamily_domains:SSF52540,cd00079 1,1,1,1 MODERATE 1 SNV 1 1,1,1,1 1 PASS CGA . . 11033309 ZNF563 . GRCh38 chr19 12318872 12318872 + Missense_Mutation SNP T T C rs1393117688 7316-1751 BS_PTYP388A T T c.1153A>G p.Ile385Val p.I385V ENST00000293725 4/4 126 111 8 41 39 0 ZNF563,missense_variant,p.Ile385Val,ENST00000293725,NM_145276.2;ZNF563,downstream_gene_variant,,ENST00000594577,;ZNF563,downstream_gene_variant,,ENST00000595977,;ZNF563,downstream_gene_variant,,ENST00000601858,; C ENSG00000188868 ENST00000293725 Transcript missense_variant 1359/2754 1153/1431 385/476 I/V Ata/Gta rs1393117688 1 -1 ZNF563 HGNC HGNC:30498 protein_coding YES CCDS12270.1 ENSP00000293725 Q8TA94 UPI0000072E62 NM_145276.2 tolerated(0.08) benign(0.006) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF14,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATC . . 12318872 CCDC194 . GRCh38 chr19 17391810 17391810 + Missense_Mutation SNP C C G novel 7316-1751 BS_PTYP388A C C c.361G>C p.Glu121Gln p.E121Q ENST00000636079 2/4 94 58 31 40 39 0 CCDC194,missense_variant,p.Glu121Gln,ENST00000636079,;CCDC194,non_coding_transcript_exon_variant,,ENST00000597169,; G ENSG00000269720 ENST00000636079 Transcript missense_variant 361/705 361/705 121/234 E/Q Gag/Cag 1 -1 CCDC194 HGNC HGNC:53438 protein_coding YES ENSP00000490504 A0A1B0GVG4 UPI0007E52B71 deleterious_low_confidence(0.04) probably_damaging(0.991) 2/4 Coiled-coils_(Ncoils):Coil,Gene3D:1.20.1170.10 MODERATE 1 SNV 5 PASS TCA . . 17391810 ZNF90 . GRCh38 chr19 20118429 20118429 + Missense_Mutation SNP G G A rs1374321279 7316-1751 BS_PTYP388A G G c.875G>A p.Arg292Lys p.R292K ENST00000418063 4/4 116 101 9 56 55 0 ZNF90,missense_variant,p.Arg292Lys,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; A ENSG00000213988 ENST00000418063 Transcript missense_variant 987/2310 875/1806 292/601 R/K aGa/aAa rs1374321279,COSM5855190 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS AGA . . 4.149e-06 5.897e-05 20118429 ZNF90 . GRCh38 chr19 20118786 20118786 + Missense_Mutation SNP C C A 7316-1751 BS_PTYP388A C C c.1232C>A p.Thr411Lys p.T411K ENST00000418063 4/4 99 81 12 52 51 0 ZNF90,missense_variant,p.Thr411Lys,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; A ENSG00000213988 ENST00000418063 Transcript missense_variant 1344/2310 1232/1806 411/601 T/K aCa/aAa COSM5950317 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(0.46) benign(0.281) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS ACA . . 20118786 ZNF90 . GRCh38 chr19 20118795 20118795 + Missense_Mutation SNP T T A novel 7316-1751 BS_PTYP388A T T c.1241T>A p.Ile414Lys p.I414K ENST00000418063 4/4 96 74 7 57 56 1 ZNF90,missense_variant,p.Ile414Lys,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; A ENSG00000213988 ENST00000418063 Transcript missense_variant 1353/2310 1241/1806 414/601 I/K aTa/aAa 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATA . . 20118795 ZNF737 . GRCh38 chr19 20545037 20545037 + Missense_Mutation SNP C C A 7316-1751 BS_PTYP388A C C c.1166G>T p.Arg389Ile p.R389I ENST00000427401 4/4 77 63 9 36 36 0 ZNF737,missense_variant,p.Arg389Ile,ENST00000427401,NM_001159293.1;ZNF737,downstream_gene_variant,,ENST00000594419,;ZNF737,upstream_gene_variant,,ENST00000596530,;ZNF737,downstream_gene_variant,,ENST00000597940,; A ENSG00000237440 ENST00000427401 Transcript missense_variant 1261/2867 1166/1611 389/536 R/I aGa/aTa COSM6832784,COSM4889433,COSM3712867,COSM349530 1 -1 ZNF737 HGNC HGNC:32468 protein_coding YES CCDS54238.1 ENSP00000395733 O75373 UPI0000198506 NM_001159293.1 tolerated(0.43) benign(0.021) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1,1,1 MODERATE 1 SNV 2 1,1,1,1 PASS TCT . . 20545037 ZNF66 . GRCh38 chr19 20806598 20806598 + Missense_Mutation SNP G G T rs772323647 7316-1751 BS_PTYP388A G G c.998G>T p.Arg333Ile p.R333I ENST00000344519 4/4 71 58 7 49 49 0 ZNF66,missense_variant,p.Arg333Ile,ENST00000344519,; T ENSG00000160229 ENST00000344519 Transcript missense_variant 1021/1745 998/1722 333/573 R/I aGa/aTa rs772323647,COSM993589,COSM1589942 1 1 ZNF66 HGNC HGNC:13135 protein_coding YES ENSP00000461425 Q6ZN08 UPI00025A2C0A tolerated(0.44) benign(0.023) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 3 0,1,1 PASS AGA . . 1.244e-05 5.99e-05 5.836e-05 20806598 ZNF431 . GRCh38 chr19 21183245 21183245 + Missense_Mutation SNP G G T 7316-1751 BS_PTYP388A G G c.942G>T p.Lys314Asn p.K314N ENST00000311048 5/5 78 63 11 48 47 0 ZNF431,missense_variant,p.Lys314Asn,ENST00000311048,NM_133473.2,NM_001319127.1,NM_001319124.1;ZNF431,3_prime_UTR_variant,,ENST00000600692,NM_001319126.1;ZNF431,intron_variant,,ENST00000594425,;ZNF431,downstream_gene_variant,,ENST00000598331,;ZNF431,downstream_gene_variant,,ENST00000599296,;ZNF431,upstream_gene_variant,,ENST00000593426,;ZNF431,upstream_gene_variant,,ENST00000594821,; T ENSG00000196705 ENST00000311048 Transcript missense_variant 1086/13894 942/1731 314/576 K/N aaG/aaT COSM377182 1 1 ZNF431 HGNC HGNC:20809 protein_coding YES CCDS32979.1 ENSP00000308578 Q8TF32 A0A024R7Q8 UPI0000191EAC NM_133473.2,NM_001319127.1,NM_001319124.1 deleterious(0.03) probably_damaging(0.944) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF121,hmmpanther:PTHR24384:SF121,hmmpanther:PTHR24384,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS AGC . . 21183245 ZNF708 . GRCh38 chr19 21293717 21293717 + Missense_Mutation SNP T T C rs749337474 7316-1751 BS_PTYP388A T T c.1249A>G p.Lys417Glu p.K417E ENST00000356929 4/4 104 81 7 49 48 1 ZNF708,missense_variant,p.Lys417Glu,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; C ENSG00000182141 ENST00000356929 Transcript missense_variant 1447/4004 1249/1692 417/563 K/E Aag/Gag rs749337474,COSM1293741 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TTT . . 4.095e-06 9.06e-06 21293717 ZNF493 . GRCh38 chr19 21424158 21424158 + Missense_Mutation SNP A A T 7316-1751 BS_PTYP388A A A c.1499A>T p.Gln500Leu p.Q500L ENST00000392288 4/4 82 65 6 54 49 0 ZNF493,missense_variant,p.Gln500Leu,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.Gln372Leu,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;AC010615.4,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,; T ENSG00000196268 ENST00000392288 Transcript missense_variant 1608/5023 1499/2325 500/774 Q/L cAa/cTa COSM5855231,COSM5855230 1 1 ZNF493 HGNC HGNC:23708 protein_coding YES CCDS42536.1 ENSP00000376110 Q6ZR52 UPI000022ABBF NM_001076678.2 tolerated(0.69) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,hmmpanther:PTHR24384:SF134,PROSITE_patterns:PS00028,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS CAA . . 21424158 ZNF208 . GRCh38 chr19 21971872 21971872 + Missense_Mutation SNP T T A 7316-1751 BS_PTYP388A T T c.3162A>T p.Glu1054Asp p.E1054D ENST00000397126 4/4 85 56 7 31 29 0 ZNF208,missense_variant,p.Glu1054Asp,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Glu926Asp,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; A ENSG00000160321 ENST00000397126 Transcript missense_variant 3311/3992 3162/3843 1054/1280 E/D gaA/gaT COSM4743197,COSM4743196,COSM4743195 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 deleterious(0.02) probably_damaging(0.96) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 1,1,1 MODERATE 1 SNV 3 1,1,1 PASS TTT . . 21971872 ZNF676 . GRCh38 chr19 22180051 22180051 + Missense_Mutation SNP T T C rs562609664 7316-1751 BS_PTYP388A T T c.1666A>G p.Thr556Ala p.T556A ENST00000397121 3/3 88 74 7 40 39 0 ZNF676,missense_variant,p.Thr556Ala,ENST00000397121,NM_001001411.2;VN1R85P,upstream_gene_variant,,ENST00000601587,; C ENSG00000196109 ENST00000397121 Transcript missense_variant 1984/2944 1666/1767 556/588 T/A Act/Gct rs562609664 1 -1 ZNF676 HGNC HGNC:20429 protein_coding YES CCDS42539.1 ENSP00000380310 Q8N7Q3 UPI00002376EC NM_001001411.2 deleterious(0.04) benign(0.003) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0.0002 0.0014 MODERATE 1 SNV 2 PASS GTA . . 22180051 LRP3 . GRCh38 chr19 33206188 33206188 + Missense_Mutation SNP G G A rs551786894 7316-1751 BS_PTYP388A G G c.1418G>A p.Arg473His p.R473H ENST00000253193 5/7 135 103 28 36 36 0 LRP3,missense_variant,p.Arg473His,ENST00000253193,NM_002333.3;SLC7A10,downstream_gene_variant,,ENST00000253188,NM_019849.2;LRP3,downstream_gene_variant,,ENST00000592484,;AC008738.7,upstream_gene_variant,,ENST00000609744,;LRP3,non_coding_transcript_exon_variant,,ENST00000590278,;SLC7A10,downstream_gene_variant,,ENST00000590036,;LRP3,downstream_gene_variant,,ENST00000590275,;SLC7A10,downstream_gene_variant,,ENST00000590490,;,regulatory_region_variant,,ENSR00000108782,; A ENSG00000130881 ENST00000253193 Transcript missense_variant 1620/3807 1418/2313 473/770 R/H cGc/cAc rs551786894 1 1 LRP3 HGNC HGNC:6695 protein_coding YES CCDS12430.1 ENSP00000253193 O75074 UPI0000047A9C NM_002333.3 tolerated(0.1) probably_damaging(0.98) 5/7 Gene3D:4.10.400.10,Pfam_domain:PF00057,Prints_domain:PR00261,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,hmmpanther:PTHR44062,hmmpanther:PTHR44062:SF1,SMART_domains:SM00192,Superfamily_domains:SSF57424,cd00112 0.0004 0.002 MODERATE 1 SNV 1 PASS CGC . . 0.0001329 0.001656 2.783e-05 33206188 SBSN . GRCh38 chr19 35527136 35527136 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.1146A>C p.Glu382Asp p.E382D ENST00000452271 1/4 169 126 16 29 28 0 SBSN,missense_variant,p.Glu382Asp,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; G ENSG00000189001 ENST00000452271 Transcript missense_variant 1175/1945 1146/1773 382/590 E/D gaA/gaC 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 deleterious(0.03) benign(0.053) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3 MODERATE 1 SNV 1 PASS CTT . . 35527136 ZNF461 . GRCh38 chr19 36638846 36638846 + Missense_Mutation SNP T T A 7316-1751 BS_PTYP388A T T c.1499A>T p.Lys500Met p.K500M ENST00000588268 6/6 143 126 6 41 41 0 ZNF461,missense_variant,p.Lys500Met,ENST00000588268,NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1;ZNF461,missense_variant,p.Lys477Met,ENST00000360357,NM_001322827.1,NM_001322826.1,NM_001297623.2;ZNF461,missense_variant,p.Lys500Met,ENST00000614133,;ZNF461,missense_variant,p.Lys231Met,ENST00000618437,;ZNF382,downstream_gene_variant,,ENST00000292928,NM_032825.4;ZNF461,downstream_gene_variant,,ENST00000591370,NM_001322828.1;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000588844,;ZNF461,downstream_gene_variant,,ENST00000590361,; A ENSG00000197808 ENST00000588268 Transcript missense_variant 1727/2584 1499/1692 500/563 K/M aAg/aTg COSM5956611,COSM5956610 1 -1 ZNF461 HGNC HGNC:21629 protein_coding YES CCDS54257.1 ENSP00000467931 Q8TAF7 UPI00002021CA NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1 deleterious(0) probably_damaging(0.916) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF277,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS CTT . . 36638846 ZNF850 . GRCh38 chr19 36749942 36749942 + Missense_Mutation SNP G G C 7316-1751 BS_PTYP388A G G c.1098C>G p.Asp366Glu p.D366E ENST00000591344 5/5 169 136 10 48 48 0 ZNF850,missense_variant,p.Asp366Glu,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Asp334Glu,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; C ENSG00000267041 ENST00000591344 Transcript missense_variant 1257/7714 1098/3273 366/1090 D/E gaC/gaG COSM6235945,COSM6235944 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 tolerated(1) benign(0.023) 5/5 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS AGT . . 36749942 ZNF420 . GRCh38 chr19 37127943 37127943 + Missense_Mutation SNP T T C novel 7316-1751 BS_PTYP388A T T c.952T>C p.Cys318Arg p.C318R ENST00000337995 5/5 110 96 6 46 45 0 ZNF420,missense_variant,p.Cys318Arg,ENST00000337995,NM_144689.3;ZNF420,missense_variant,p.Cys318Arg,ENST00000304239,;AC012309.1,intron_variant,,ENST00000588873,;ZNF420,upstream_gene_variant,,ENST00000585862,;ZNF420,downstream_gene_variant,,ENST00000587029,;ZNF420,downstream_gene_variant,,ENST00000589245,;ZNF420,downstream_gene_variant,,ENST00000590332,;AC012309.2,downstream_gene_variant,,ENST00000587645,;ZNF585A,intron_variant,,ENST00000588723,;ZNF420,upstream_gene_variant,,ENST00000586540,;ZNF585A,intron_variant,,ENST00000587817,;ZNF420,downstream_gene_variant,,ENST00000589461,; C ENSG00000197050 ENST00000337995 Transcript missense_variant 1167/3535 952/2067 318/688 C/R Tgt/Cgt 1 1 ZNF420 HGNC HGNC:20649 protein_coding YES CCDS12498.1 ENSP00000338770 Q8TAQ5 UPI000007049F NM_144689.3 tolerated(0.38) benign(0.021) 5/5 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF72,hmmpanther:PTHR24376:SF72,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTG . . 37127943 AC011445.1 . GRCh38 chr19 39320791 39320791 + Splice_Site SNP A A C novel 7316-1751 BS_PTYP388A A A n.66+2T>G ENST00000601911 170 137 21 44 41 0 AC011445.1,splice_donor_variant,,ENST00000601911,;,regulatory_region_variant,,ENSR00000109409,; C ENSG00000268262 ENST00000601911 Transcript splice_donor_variant,non_coding_transcript_variant 1 -1 AC011445.1 Clone_based_ensembl_gene sense_overlapping YES 1/3 HIGH 1 SNV 1 PASS CAC . . 39320791 TIMM50 . GRCh38 chr19 39480783 39480783 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.239T>G p.Ile80Ser p.I80S ENST00000544017 1/11 322 299 20 63 63 0 TIMM50,missense_variant,p.Ile80Ser,ENST00000544017,NM_001001563.2;TIMM50,missense_variant,p.Ile80Ser,ENST00000314349,;SUPT5H,downstream_gene_variant,,ENST00000359191,;SUPT5H,downstream_gene_variant,,ENST00000402194,NM_001130825.1,NM_001319991.1;SUPT5H,downstream_gene_variant,,ENST00000432763,NM_001319990.1,NM_001130824.1,NM_001111020.2;TIMM50,upstream_gene_variant,,ENST00000594583,;TIMM50,upstream_gene_variant,,ENST00000597666,;SUPT5H,downstream_gene_variant,,ENST00000598725,NM_003169.3;SUPT5H,downstream_gene_variant,,ENST00000599117,;TIMM50,upstream_gene_variant,,ENST00000599794,;TIMM50,upstream_gene_variant,,ENST00000601403,;TIMM50,upstream_gene_variant,,ENST00000602028,;TIMM50,upstream_gene_variant,,ENST00000607714,;TIMM50,5_prime_UTR_variant,,ENST00000601358,;TIMM50,upstream_gene_variant,,ENST00000595286,;TIMM50,upstream_gene_variant,,ENST00000595961,;TIMM50,upstream_gene_variant,,ENST00000596239,;TIMM50,upstream_gene_variant,,ENST00000597782,;TIMM50,upstream_gene_variant,,ENST00000598125,;TIMM50,upstream_gene_variant,,ENST00000599733,;SUPT5H,downstream_gene_variant,,ENST00000600818,;TIMM50,upstream_gene_variant,,ENST00000602265,;,regulatory_region_variant,,ENSR00000109433,; G ENSG00000105197 ENST00000544017 Transcript missense_variant 372/2572 239/1371 80/456 I/S aTt/aGt 1 1 TIMM50 HGNC HGNC:23656 protein_coding YES CCDS33023.1 ENSP00000445806 Q3ZCQ8 A0A024R0M6 UPI0000161278 NM_001001563.2 deleterious_low_confidence(0) probably_damaging(0.994) 1/11 MODERATE 1 SNV 1 1 PASS ATT . . 39480783 EID2 . GRCh38 chr19 39539801 39539801 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.279A>C p.Glu93Asp p.E93D ENST00000390658 1/1 275 240 26 37 36 0 EID2,missense_variant,p.Glu93Asp,ENST00000390658,NM_153232.3;,regulatory_region_variant,,ENSR00000109440,;TDGF1P7,downstream_gene_variant,,ENST00000593394,; G ENSG00000176396 ENST00000390658 Transcript missense_variant 533/1629 279/711 93/236 E/D gaA/gaC 1 -1 EID2 HGNC HGNC:28292 protein_coding YES CCDS12540.2 ENSP00000375073 Q8N6I1 UPI00001E052F NM_153232.3 tolerated(0.19) benign(0.242) 1/1 hmmpanther:PTHR15556,hmmpanther:PTHR15556:SF3,Low_complexity_(Seg):seg MODERATE 1 SNV PASS TTT . . 39539801 ZNF546 . GRCh38 chr19 40014686 40014686 + Missense_Mutation SNP G G T rs1316119553 7316-1751 BS_PTYP388A G G c.1416G>T p.Lys472Asn p.K472N ENST00000347077 7/7 230 202 13 54 54 0 ZNF546,missense_variant,p.Lys472Asn,ENST00000347077,NM_178544.4;ZNF546,missense_variant,p.Lys446Asn,ENST00000600094,NM_001297763.1;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000599504,;ZNF546,downstream_gene_variant,,ENST00000601138,; T ENSG00000187187 ENST00000347077 Transcript missense_variant 1632/7987 1416/2511 472/836 K/N aaG/aaT rs1316119553 1 1 ZNF546 HGNC HGNC:28671 protein_coding YES CCDS12548.1 ENSP00000339823 Q86UE3 UPI00001984E3 NM_178544.4 tolerated(0.49) possibly_damaging(0.883) 7/7 Gene3D:2.30.30.380,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGG . . 40014686 MAP3K10 . GRCh38 chr19 40192330 40192330 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.299T>G p.Leu100Arg p.L100R ENST00000253055 1/10 305 265 32 47 47 0 MAP3K10,missense_variant,p.Leu100Arg,ENST00000253055,NM_002446.3;MAP3K10,non_coding_transcript_exon_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; G ENSG00000130758 ENST00000253055 Transcript missense_variant 587/3436 299/2865 100/954 L/R cTa/cGa 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious(0.03) probably_damaging(0.999) 1/10 Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000556,PROSITE_profiles:PS50011,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5,SMART_domains:SM00220,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 PASS CTA . . 40192330 PRX . GRCh38 chr19 40396171 40396171 + Missense_Mutation SNP T T C rs866084018 7316-1751 BS_PTYP388A T T c.2181A>G p.Ile727Met p.I727M ENST00000324001 7/7 236 182 6 33 31 0 PRX,missense_variant,p.Ile727Met,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2; C ENSG00000105227 ENST00000324001 Transcript missense_variant 2452/4855 2181/4386 727/1461 I/M atA/atG rs866084018,COSM5950726 1 -1 PRX HGNC HGNC:13797 protein_coding YES CCDS33028.1 ENSP00000326018 Q9BXM0 UPI000044CC1A NM_181882.2 tolerated(0.36) benign(0.007) 7/7 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF42 0,1 MODERATE 1 SNV 1 0,1 1 PASS TTA . . 40396171 BCAM . GRCh38 chr19 44819487 44819487 + Missense_Mutation SNP A G G rs1135062 7316-1751 BS_PTYP388A A A c.1615A>G p.Thr539Ala p.T539A ENST00000270233 12/15 65 9 55 32 25 7 BCAM,missense_variant,p.Thr539Ala,ENST00000611077,NM_001013257.2;BCAM,missense_variant,p.Thr539Ala,ENST00000270233,NM_005581.4;BCAM,non_coding_transcript_exon_variant,,ENST00000588714,;BCAM,downstream_gene_variant,,ENST00000589558,;BCAM,downstream_gene_variant,,ENST00000590196,; G ENSG00000187244 ENST00000270233 Transcript missense_variant 1681/2453 1615/1887 539/628 T/A Acc/Gcc rs1135062,CM973377,COSM1179785 1 1 BCAM HGNC HGNC:6722 protein_coding YES CCDS12644.1 ENSP00000270233 P50895 UPI0000190806 NM_005581.4 tolerated(0.57) benign(0) 12/15 PROSITE_profiles:PS50835,hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF15,Gene3D:2.60.40.10,SMART_domains:SM00409 0.2704 0.4349 0.2305 0.1131 0.3002 0.2076 0.4092 0.3009 benign 0,0,1 9166867,17319831 MODERATE 1 SNV 1 1,1,1 1 PASS CAC . . 0.2727 0.4198 0.2088 0.3094 0.1045 0.3048 0.2994 0.2881 0.2288 44819487 CCDC8 . GRCh38 chr19 46411487 46411487 + Missense_Mutation SNP G G C rs1163735259 7316-1751 BS_PTYP388A G G c.1324C>G p.His442Asp p.H442D ENST00000307522 1/1 75 62 11 30 30 0 CCDC8,missense_variant,p.His442Asp,ENST00000307522,NM_032040.4; C ENSG00000169515 ENST00000307522 Transcript missense_variant 2098/3213 1324/1617 442/538 H/D Cat/Gat rs1163735259,COSM6205530 1 -1 CCDC8 HGNC HGNC:25367 protein_coding YES CCDS12685.1 ENSP00000303158 Q9H0W5 UPI00000730F2 NM_032040.4 tolerated_low_confidence(0.34) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR23095:SF2,hmmpanther:PTHR23095 0,1 MODERATE 1 SNV 0,1 1 PASS TGT . . 46411487 ZNF541 . GRCh38 chr19 47545639 47545639 + Frame_Shift_Del DEL G G - novel 7316-1751 BS_PTYP388A G G c.890del p.Ala297ValfsTer254 p.A297Vfs*254 ENST00000391901 3/15 80 22 51 38 38 0 ZNF541,frameshift_variant,p.Ala297ValfsTer254,ENST00000314121,;ZNF541,frameshift_variant,p.Ala297ValfsTer254,ENST00000391901,NM_001277075.1;ZNF541,upstream_gene_variant,,ENST00000263351,;ZNF541,upstream_gene_variant,,ENST00000595558,;ZNF541,upstream_gene_variant,,ENST00000487275,; - ENSG00000118156 ENST00000391901 Transcript frameshift_variant 890/4580 890/4041 297/1346 A/X gCt/gt 1 -1 ZNF541 HGNC HGNC:25294 protein_coding YES CCDS46133.2 ENSP00000375770 Q9H0D2 UPI0000E5A21D NM_001277075.1 3/15 hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23,mobidb-lite,Low_complexity_(Seg):seg HIGH 1 deletion 5 PASS AAGC . . 47545638 MED25 . GRCh38 chr19 49835947 49835947 + Splice_Site SNP T T G novel 7316-1751 BS_PTYP388A T T c.1965+2T>G p.X655_splice ENST00000312865 54 46 5 35 35 0 MED25,splice_donor_variant,,ENST00000618715,;MED25,splice_donor_variant,,ENST00000312865,NM_030973.3;MED25,splice_donor_variant,,ENST00000538643,;MED25,splice_donor_variant,,ENST00000593767,;MED25,splice_donor_variant,,ENST00000617849,;MED25,splice_donor_variant,,ENST00000622402,;MED25,intron_variant,,ENST00000595185,;MED25,intron_variant,,ENST00000612791,;MED25,intron_variant,,ENST00000612854,;MED25,intron_variant,,ENST00000620467,;MIR6800,downstream_gene_variant,,ENST00000614963,;PTOV1-AS1,downstream_gene_variant,,ENST00000596521,;PTOV1-AS1,downstream_gene_variant,,ENST00000600742,;MED25,splice_donor_variant,,ENST00000594998,;MED25,downstream_gene_variant,,ENST00000599722,; G ENSG00000104973 ENST00000312865 Transcript splice_donor_variant 1 1 MED25 HGNC HGNC:28845 protein_coding YES CCDS33075.1 ENSP00000326767 Q71SY5 UPI00002029A3 NM_030973.3 16/17 HIGH 1 SNV 1 1 PASS GTG . . 49835947 KCNC3 . GRCh38 chr19 50323140 50323140 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.1813A>C p.Met605Leu p.M605L ENST00000477616 2/5 62 44 9 37 36 0 KCNC3,missense_variant,p.Met605Leu,ENST00000376959,;KCNC3,missense_variant,p.Met605Leu,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000474951,; G ENSG00000131398 ENST00000477616 Transcript missense_variant 2108/3176 1813/2274 605/757 M/L Atg/Ctg 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 tolerated_low_confidence(0.59) benign(0) 2/5 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF184,mobidb-lite MODERATE 1 SNV 1 1 PASS ATG . . 50323140 ZNF28 . GRCh38 chr19 52800534 52800534 + Missense_Mutation SNP C C A 7316-1751 BS_PTYP388A C C c.1311G>T p.Lys437Asn p.K437N ENST00000457749 4/4 43 33 8 41 40 0 ZNF28,missense_variant,p.Lys384Asn,ENST00000438150,;ZNF28,missense_variant,p.Lys437Asn,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Lys384Asn,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000596559,; A ENSG00000198538 ENST00000457749 Transcript missense_variant 1431/4556 1311/2157 437/718 K/N aaG/aaT COSM6829052,COSM6829051,COSM6829050 1 -1 ZNF28 HGNC HGNC:13073 protein_coding YES CCDS33093.2 ENSP00000397693 P17035 UPI00001D8190 NM_006969.3 deleterious(0.02) probably_damaging(0.996) 4/4 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF301,hmmpanther:PTHR24377:SF301,Superfamily_domains:SSF57667 1,1,1 MODERATE 1 SNV 1 1,1,1 PASS GCT . . 52800534 ZNF865 . GRCh38 chr19 55615092 55615092 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.1474T>G p.Tyr492Asp p.Y492D ENST00000568956 2/2 59 43 10 31 26 0 ZNF865,missense_variant,p.Tyr492Asp,ENST00000568956,NM_001195605.1;ZNF865,upstream_gene_variant,,ENST00000630143,;AC008735.4,upstream_gene_variant,,ENST00000614815,;,regulatory_region_variant,,ENSR00000111687,; G ENSG00000261221 ENST00000568956 Transcript missense_variant 1828/4005 1474/3180 492/1059 Y/D Tac/Gac 1 1 ZNF865 HGNC HGNC:38705 protein_coding YES CCDS58681.1 ENSP00000457715 P0CJ78 UPI0000D6181D NM_001195605.1 tolerated(0.08) unknown(0) 2/2 Gene3D:3.30.160.60,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF62,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GTA . . 55615092 ZNF582 . GRCh38 chr19 56384399 56384399 + Missense_Mutation SNP C C T novel 7316-1751 BS_PTYP388A C C c.1018G>A p.Glu340Lys p.E340K ENST00000301310 5/5 60 54 5 41 41 0 ZNF582,missense_variant,p.Glu340Lys,ENST00000301310,NM_144690.2;ZNF582,missense_variant,p.Glu340Lys,ENST00000619584,;ZNF582,missense_variant,p.Glu340Lys,ENST00000586929,NM_001320371.1;ZNF582,intron_variant,,ENST00000589143,;AC006116.4,upstream_gene_variant,,ENST00000589671,;ZNF542P,downstream_gene_variant,,ENST00000467807,;ZNF542P,downstream_gene_variant,,ENST00000490123,;ZNF542P,downstream_gene_variant,,ENST00000495307,;ZNF582,downstream_gene_variant,,ENST00000587778,;ZNF582,downstream_gene_variant,,ENST00000593145,;,regulatory_region_variant,,ENSR00000111752,;SLC25A36P1,upstream_gene_variant,,ENST00000590111,; T ENSG00000018869 ENST00000301310 Transcript missense_variant 1177/2824 1018/1554 340/517 E/K Gaa/Aaa 1 -1 ZNF582 HGNC HGNC:26421 protein_coding YES CCDS33121.1 ENSP00000301310 Q96NG8 A0A024R4P7 UPI000006D278 NM_144690.2 tolerated(0.12) benign(0.015) 5/5 Gene3D:2.40.155.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF115,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TCA . . 56384399 ZNF71 . GRCh38 chr19 56622339 56622339 + Missense_Mutation SNP T T A rs1409057328 7316-1751 BS_PTYP388A T T c.1052T>A p.Val351Glu p.V351E ENST00000328070 3/3 59 44 7 40 37 0 ZNF71,missense_variant,p.Val351Glu,ENST00000328070,NM_021216.4;ZNF71,downstream_gene_variant,,ENST00000599599,; A ENSG00000197951 ENST00000328070 Transcript missense_variant 1286/5428 1052/1470 351/489 V/E gTg/gAg rs1409057328 1 1 ZNF71 HGNC HGNC:13141 protein_coding YES CCDS12947.1 ENSP00000328245 Q9NQZ8 UPI00000437FA NM_021216.4 tolerated(1) benign(0.033) 3/3 Gene3D:2.20.28.10,PROSITE_profiles:PS50157,hmmpanther:PTHR44237,hmmpanther:PTHR44237:SF4,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GTG . . 56622339 ZNF460 . GRCh38 chr19 57291580 57291580 + Missense_Mutation SNP T T C rs1398857331 7316-1751 BS_PTYP388A T T c.1039T>C p.Cys347Arg p.C347R ENST00000360338 3/3 119 106 8 40 40 0 ZNF460,missense_variant,p.Cys347Arg,ENST00000360338,NM_006635.3;ZNF460,missense_variant,p.Cys306Arg,ENST00000537645,;ZNF460,downstream_gene_variant,,ENST00000599602,;AC005261.5,downstream_gene_variant,,ENST00000623072,; C ENSG00000197714 ENST00000360338 Transcript missense_variant 1361/3350 1039/1689 347/562 C/R Tgc/Cgc rs1398857331 1 1 ZNF460 HGNC HGNC:21628 protein_coding YES CCDS12949.1 ENSP00000353491 Q14592 UPI0000202D11 NM_006635.3 tolerated(0.71) benign(0) 3/3 Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF15,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CTG . . 57291580 ZNF460 . GRCh38 chr19 57291590 57291590 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.1049A>C p.His350Pro p.H350P ENST00000360338 3/3 120 110 7 42 42 0 ZNF460,missense_variant,p.His350Pro,ENST00000360338,NM_006635.3;ZNF460,missense_variant,p.His309Pro,ENST00000537645,;ZNF460,downstream_gene_variant,,ENST00000599602,;AC005261.5,downstream_gene_variant,,ENST00000623072,; C ENSG00000197714 ENST00000360338 Transcript missense_variant 1371/3350 1049/1689 350/562 H/P cAc/cCc 1 1 ZNF460 HGNC HGNC:21628 protein_coding YES CCDS12949.1 ENSP00000353491 Q14592 UPI0000202D11 NM_006635.3 tolerated(0.05) benign(0.349) 3/3 Gene3D:2.20.28.30,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF15,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CAC . . 57291590 ZNF419 . GRCh38 chr19 57493972 57493972 + Missense_Mutation SNP A A T 7316-1751 BS_PTYP388A A A c.1418A>T p.Lys473Ile p.K473I ENST00000424930 5/5 103 83 7 40 38 0 ZNF419,missense_variant,p.Lys440Ile,ENST00000347466,NM_001291743.1,NM_001098494.1;ZNF419,missense_variant,p.Lys473Ile,ENST00000424930,NM_001098491.1;ZNF419,missense_variant,p.Lys460Ile,ENST00000426954,NM_001098492.1;ZNF419,missense_variant,p.Lys472Ile,ENST00000221735,NM_024691.3;ZNF419,missense_variant,p.Lys426Ile,ENST00000415379,NM_001098496.1,NM_001098495.1;ZNF419,missense_variant,p.Lys459Ile,ENST00000442920,NM_001098493.1;ZNF419,missense_variant,p.Lys404Ile,ENST00000354197,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000519310,NM_001291744.1;ZNF419,downstream_gene_variant,,ENST00000520540,NM_001291745.1;ZNF419,downstream_gene_variant,,ENST00000521137,;ZNF419,downstream_gene_variant,,ENST00000521754,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.1,intron_variant,,ENST00000599674,;AC003005.1,intron_variant,,ENST00000601674,; T ENSG00000105136 ENST00000424930 Transcript missense_variant 1647/2323 1418/1536 473/511 K/I aAa/aTa COSM6200409,COSM6200408 1 1 ZNF419 HGNC HGNC:20648 protein_coding YES CCDS54325.1 ENSP00000388864 Q96HQ0 UPI0000E04CBA NM_001098491.1 deleterious(0.02) benign(0.018) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF633,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS AAA . . 57493972 ZNF586 . GRCh38 chr19 57779380 57779380 + Missense_Mutation SNP G G T 7316-1751 BS_PTYP388A G G c.793G>T p.Val265Phe p.V265F ENST00000396154 3/3 97 81 6 38 34 0 ZNF586,missense_variant,p.Val222Phe,ENST00000391702,NM_001204814.1;ZNF586,missense_variant,p.Val265Phe,ENST00000396154,NM_017652.3;ZNF586,3_prime_UTR_variant,,ENST00000396150,NM_001077426.2;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000598885,;ZNF586,intron_variant,,ENST00000599802,; T ENSG00000083828 ENST00000396154 Transcript missense_variant 966/2163 793/1209 265/402 V/F Gtt/Ttt COSM6329878 1 1 ZNF586 HGNC HGNC:25949 protein_coding YES CCDS42640.1 ENSP00000379458 Q9NXT0 UPI0000202D48 NM_017652.3 deleterious(0.01) probably_damaging(0.91) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF708,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS CGT . . 57779380 ZNF837 . GRCh38 chr19 58368153 58368153 + Missense_Mutation SNP G G C rs1448615171 7316-1751 BS_PTYP388A G G c.1180C>G p.Pro394Ala p.P394A ENST00000427624 3/3 119 103 11 53 51 1 ZNF837,missense_variant,p.Pro394Ala,ENST00000427624,;ZNF837,missense_variant,p.Pro394Ala,ENST00000597582,NM_138466.1;RNA5SP473,downstream_gene_variant,,ENST00000516402,;AC012313.6,downstream_gene_variant,,ENST00000599889,;,regulatory_region_variant,,ENSR00000111870,;,regulatory_region_variant,,ENSR00000289356,; C ENSG00000152475 ENST00000427624 Transcript missense_variant 1503/2038 1180/1596 394/531 P/A Ccc/Gcc rs1448615171,COSM6213596 1 -1 ZNF837 HGNC HGNC:25164 protein_coding YES CCDS46216.1 ENSP00000405699 Q96EG3 UPI00001C2012 tolerated(0.77) benign(0.02) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF624,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GGG . . 58368153 RBL1 . GRCh38 chr20 36998770 36998770 + Missense_Mutation SNP C C A novel 7316-1751 BS_PTYP388A C C c.3196G>T p.Ala1066Ser p.A1066S ENST00000373664 22/22 103 69 32 41 40 0 RBL1,missense_variant,p.Ala1066Ser,ENST00000373664,NM_001323281.1,NM_001323282.1,NM_002895.4;RBL1,downstream_gene_variant,,ENST00000344359,NM_183404.3; A ENSG00000080839 ENST00000373664 Transcript missense_variant 3263/5684 3196/3207 1066/1068 A/S Gca/Tca 1 -1 RBL1 HGNC HGNC:9893 protein_coding YES CCDS13289.1 ENSP00000362768 P28749 UPI000013D34E NM_001323281.1,NM_001323282.1,NM_002895.4 tolerated(0.23) benign(0.061) 22/22 hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF20,SMART_domains:SM01369 MODERATE 1 SNV 1 PASS GCT . . 36998770 NCOA3 . GRCh38 chr20 47651071 47651073 + In_Frame_Del DEL GCA GCA - rs903755230 7316-1751 BS_PTYP388A GCA GCA c.3759_3761del p.Gln1276del p.Q1276del ENST00000371998 20/23 35 10 18 49 40 2 NCOA3,inframe_deletion,p.Gln1272del,ENST00000372004,NM_006534.3;NCOA3,inframe_deletion,p.Gln1267del,ENST00000371997,NM_001174088.1;NCOA3,inframe_deletion,p.Gln1276del,ENST00000371998,NM_181659.2,NM_001174087.1; - ENSG00000124151 ENST00000371998 Transcript inframe_deletion 3932-3934/4668 3741-3743/4275 1247-1248/1424 MQ/M atGCAg/atg rs903755230,TMP_ESP_20_46279815_46279838 1 1 NCOA3 HGNC HGNC:7670 protein_coding YES CCDS13407.1 ENSP00000361066 Q9Y6Q9 UPI000012FE45 NM_181659.2,NM_001174087.1 20/23 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,Gene3D:2.130.10.10,PIRSF_domain:PIRSF038181 0.01735 0.01466 MODERATE 1 deletion 1 18 PASS ATGCAG . . 7.983e-05 0.0001338 0.0001512 9.263e-05 8.474e-05 0.0001876 47651070 CLIC6 . GRCh38 chr21 34670207 34670207 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.819A>C p.Glu273Asp p.E273D ENST00000360731 1/7 99 77 13 31 31 0 CLIC6,missense_variant,p.Glu273Asp,ENST00000360731,NM_001317009.1;CLIC6,missense_variant,p.Glu273Asp,ENST00000349499,NM_053277.2; C ENSG00000159212 ENST00000360731 Transcript missense_variant 819/3860 819/2115 273/704 E/D gaA/gaC 1 1 CLIC6 HGNC HGNC:2065 protein_coding YES CCDS82669.1 ENSP00000353959 Q96NY7 UPI0000074422 NM_001317009.1 tolerated(0.09) benign(0.122) 1/7 mobidb-lite,hmmpanther:PTHR45476 MODERATE 1 SNV 1 PASS AAG . . 34670207 UMODL1 . GRCh38 chr21 42111354 42111354 + Missense_Mutation SNP A A T novel 7316-1751 BS_PTYP388A A A c.2132A>T p.Glu711Val p.E711V ENST00000408989 11/22 121 94 13 31 29 0 UMODL1,missense_variant,p.Glu639Val,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Glu711Val,ENST00000408989,NM_173568.3;UMODL1,intron_variant,,ENST00000400424,NM_001199528.2;UMODL1,intron_variant,,ENST00000408910,NM_001004416.2;UMODL1-AS1,upstream_gene_variant,,ENST00000329015,;UMODL1,upstream_gene_variant,,ENST00000475047,; T ENSG00000177398 ENST00000408989 Transcript missense_variant 2132/5262 2132/4341 711/1446 E/V gAg/gTg 1 1 UMODL1 HGNC HGNC:12560 protein_coding YES CCDS42935.1 ENSP00000386126 Q5DID0 UPI0000D6254B NM_173568.3 tolerated(0.33) benign(0) 11/22 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:2.40.155.10,hmmpanther:PTHR45146 MODERATE 1 SNV 1 PASS GAG . . 42111354 PKNOX1 . GRCh38 chr21 43028790 43028790 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.1015A>C p.Asn339His p.N339H ENST00000291547 10/11 85 76 9 42 42 0 PKNOX1,missense_variant,p.Asn222His,ENST00000432907,NM_001286258.1;PKNOX1,missense_variant,p.Asn339His,ENST00000291547,NM_001320694.1,NM_004571.4;PKNOX1,non_coding_transcript_exon_variant,,ENST00000607150,;PKNOX1,non_coding_transcript_exon_variant,,ENST00000557820,;PKNOX1,3_prime_UTR_variant,,ENST00000560448,;PKNOX1,non_coding_transcript_exon_variant,,ENST00000607049,;PKNOX1,non_coding_transcript_exon_variant,,ENST00000558955,;PKNOX1,downstream_gene_variant,,ENST00000474336,; C ENSG00000160199 ENST00000291547 Transcript missense_variant 1226/5003 1015/1311 339/436 N/H Aac/Cac 1 1 PKNOX1 HGNC HGNC:9022 protein_coding YES CCDS13692.1 ENSP00000291547 P55347 Q96I87 UPI000000D8D4 NM_001320694.1,NM_004571.4 tolerated(0.74) benign(0.001) 10/11 hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF80 MODERATE 1 SNV 1 PASS GAA . . 43028790 SGSM1 . GRCh38 chr22 24806346 24806346 + Splice_Site SNP T T G novel 7316-1751 BS_PTYP388A T T c.19+2T>G p.X7_splice ENST00000400359 120 106 10 47 46 0 SGSM1,splice_donor_variant,,ENST00000400358,NM_001098497.2;SGSM1,splice_donor_variant,,ENST00000400359,NM_001039948.3;SGSM1,splice_donor_variant,,ENST00000610372,NM_133454.3,NM_001098498.2;SGSM1,splice_donor_variant,,ENST00000470591,;,regulatory_region_variant,,ENSR00000144452,; G ENSG00000167037 ENST00000400359 Transcript splice_donor_variant 1 1 SGSM1 HGNC HGNC:29410 protein_coding YES CCDS46674.1 ENSP00000383212 Q2NKQ1 UPI00006EB130 NM_001039948.3 1/25 HIGH 1 SNV 5 PASS GTA . . 24806346 SYN3 . GRCh38 chr22 32518044 32518044 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.1609A>C p.Asn537His p.N537H ENST00000358763 13/14 97 82 7 46 46 0 SYN3,missense_variant,p.Asn537His,ENST00000358763,NM_001135774.1,NM_133633.2,NM_003490.3;SYN3,missense_variant,p.Asn280His,ENST00000332840,;SYN3,splice_region_variant,,ENST00000467095,;SYN3,downstream_gene_variant,,ENST00000459990,;SYN3,downstream_gene_variant,,ENST00000468922,;SYN3,splice_region_variant,,ENST00000483062,;SYN3,splice_region_variant,,ENST00000461446,; G ENSG00000185666 ENST00000358763 Transcript missense_variant,splice_region_variant 1852/3126 1609/1743 537/580 N/H Aac/Cac 1 -1 SYN3 HGNC HGNC:11496 protein_coding YES CCDS13908.1 ENSP00000351614 O14994 A0A024R1I8 UPI00001365D3 NM_001135774.1,NM_133633.2,NM_003490.3 deleterious(0) probably_damaging(0.991) 13/14 hmmpanther:PTHR10841,hmmpanther:PTHR10841:SF6,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TTG . . 32518044 KCTD17 . GRCh38 chr22 37051762 37051762 + Missense_Mutation SNP T T G novel 7316-1751 BS_PTYP388A T T c.23T>G p.Met8Arg p.M8R ENST00000403888 1/9 100 81 8 37 36 1 KCTD17,missense_variant,p.Met8Arg,ENST00000403888,NM_001282684.1;KCTD17,missense_variant,p.Met8Arg,ENST00000402077,NM_024681.3;KCTD17,missense_variant,p.Met8Arg,ENST00000610767,NM_001282686.1;KCTD17,upstream_gene_variant,,ENST00000431531,;KCTD17,upstream_gene_variant,,ENST00000456470,NM_001282685.1;RN7SKP214,downstream_gene_variant,,ENST00000364208,;KCTD17,upstream_gene_variant,,ENST00000421900,;KCTD17,upstream_gene_variant,,ENST00000478231,;KCTD17,upstream_gene_variant,,ENST00000483389,;,regulatory_region_variant,,ENSR00000145932,; G ENSG00000100379 ENST00000403888 Transcript missense_variant 24/1763 23/966 8/321 M/R aTg/aGg 1 1 KCTD17 HGNC HGNC:25705 protein_coding YES CCDS74854.1 ENSP00000385096 Q8N5Z5 UPI0001610FBA NM_001282684.1 tolerated_low_confidence(0.08) benign(0) 1/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14958,hmmpanther:PTHR14958:SF24 MODERATE 1 SNV 1 1 PASS ATG . . 37051762 ENTHD1 . GRCh38 chr22 39743903 39743903 + Missense_Mutation SNP A A G novel 7316-1751 BS_PTYP388A A A c.1600T>C p.Ser534Pro p.S534P ENST00000325157 7/7 106 86 20 55 54 0 ENTHD1,missense_variant,p.Ser534Pro,ENST00000325157,NM_152512.3; G ENSG00000176177 ENST00000325157 Transcript missense_variant 1851/2710 1600/1824 534/607 S/P Tca/Cca 1 -1 ENTHD1 HGNC HGNC:26352 protein_coding YES CCDS13998.1 ENSP00000317431 Q8IYW4 UPI00000741D2 NM_152512.3 tolerated(0.26) benign(0) 7/7 hmmpanther:PTHR12276:SF57,hmmpanther:PTHR12276 MODERATE 1 SNV 1 PASS GAC . . 39743903 VCX . GRCh38 chrX 7843813 7843813 + Missense_Mutation SNP G G A rs145031736 7316-1751 BS_PTYP388A G G c.418G>A p.Val140Met p.V140M ENST00000381059 3/3 37 25 7 30 29 0 VCX,missense_variant,p.Val140Met,ENST00000381059,NM_013452.2;VCX,missense_variant,p.Val120Met,ENST00000341408,;VCX,intron_variant,,ENST00000620630,;,regulatory_region_variant,,ENSR00000339578,; A ENSG00000182583 ENST00000381059 Transcript missense_variant 637/967 418/621 140/206 V/M Gtg/Atg rs145031736,COSM1600180 1 1 VCX HGNC HGNC:12667 protein_coding YES CCDS14128.1 ENSP00000370447 Q9H320 UPI0000138291 NM_013452.2 tolerated(0.22) benign(0.127) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF2,Pfam_domain:PF15231,Pfam_domain:PF15231,Pfam_domain:PF15231 0,1 MODERATE 1 SNV 1 0,1 PASS GGT . . 0.0002194 0.0001305 0.0002572 9.683e-05 8.615e-05 0.0002972 0.0003945 0.0001683 7843813 DDX53 . GRCh38 chrX 23000375 23000375 + Missense_Mutation SNP A A C novel 7316-1751 BS_PTYP388A A A c.318A>C p.Lys106Asn p.K106N ENST00000327968 1/1 54 32 22 24 24 0 DDX53,missense_variant,p.Lys106Asn,ENST00000327968,NM_182699.3;PTCHD1-AS,intron_variant,,ENST00000455399,;PTCHD1-AS,intron_variant,,ENST00000608254,; C ENSG00000184735 ENST00000327968 Transcript missense_variant 415/3629 318/1896 106/631 K/N aaA/aaC 1 1 DDX53 HGNC HGNC:20083 protein_coding YES CCDS35214.1 ENSP00000368667 Q86TM3 UPI0000199904 NM_182699.3 deleterious(0.04) probably_damaging(0.988) 1/1 Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50084,cd00105,hmmpanther:PTHR24031:SF310,hmmpanther:PTHR24031,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791 MODERATE SNV PASS AAG . . 23000375 TEX13D . GRCh38 chrX 124334806 124334806 + Missense_Mutation SNP G G T 7316-1751 BS_PTYP388A G G c.1889G>T p.Gly630Val p.G630V ENST00000632372 1/1 69 53 8 15 15 0 TEX13D,missense_variant,p.Gly630Val,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; T ENSG00000282419 ENST00000632372 Transcript missense_variant 2147/4203 1889/2145 630/714 G/V gGc/gTc COSM5956512 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.09) benign(0.103) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite 1 MODERATE 1 SNV 1 PASS GGC . . 124334806 MAGEC1 . GRCh38 chrX 141906704 141906704 + Missense_Mutation SNP G G T 7316-1751 BS_PTYP388A G G c.1300G>T p.Ala434Ser p.A434S ENST00000285879 4/4 35 25 6 25 24 0 MAGEC1,missense_variant,p.Ala434Ser,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; T ENSG00000155495 ENST00000285879 Transcript missense_variant 1586/4270 1300/3429 434/1142 A/S Gct/Tct COSM3558669,COSM1716150 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(0.57) benign(0.003) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 1,1 MODERATE 1 SNV 1 1,1 PASS TGC . . 141906704 MPP1 . GRCh38 chrX 154781317 154781318 + Splice_Region INS - - A rs781889992 7316-1751 BS_PTYP388A - - c.1150-5dup ENST00000369534 39 31 5 27 22 0 MPP1,splice_region_variant,,ENST00000369534,NM_002436.3,NM_001166460.1;MPP1,splice_region_variant,,ENST00000393531,NM_001166461.1;MPP1,splice_region_variant,,ENST00000413259,NM_001166462.1;DKC1,downstream_gene_variant,,ENST00000369550,NM_001363.4,NM_001142463.2;MPP1,downstream_gene_variant,,ENST00000393529,;MPP1,downstream_gene_variant,,ENST00000428488,;MPP1,downstream_gene_variant,,ENST00000453245,;DKC1,downstream_gene_variant,,ENST00000620277,NM_001288747.1;MPP1,downstream_gene_variant,,ENST00000462825,;MPP1,downstream_gene_variant,,ENST00000488754,;DKC1,downstream_gene_variant,,ENST00000492372,;MPP1,splice_region_variant,,ENST00000439370,;MPP1,splice_region_variant,,ENST00000491955,;MPP1,non_coding_transcript_exon_variant,,ENST00000482757,;MPP1,downstream_gene_variant,,ENST00000417435,;MPP1,downstream_gene_variant,,ENST00000475943,;MPP1,downstream_gene_variant,,ENST00000493871,;MPP1,downstream_gene_variant,,ENST00000494170,; A ENSG00000130830 ENST00000369534 Transcript splice_region_variant,intron_variant rs781889992 1 -1 MPP1 HGNC HGNC:7219 protein_coding YES CCDS14762.1 ENSP00000358547 Q00013 UPI0000129E86 NM_002436.3,NM_001166460.1 10/11 LOW 1 insertion 1 PASS AGA . . 0.004462 0.002197 0.006725 0.004499 0.003976 0.002176 0.003699 0.008215 0.01123 154781317 PER3 . GRCh38 chr1 7829993 7829993 + Missense_Mutation SNP G G A rs1776342 7316-341 BS_5BCMBVDR G G c.3046G>A p.Ala1016Thr p.A1016T ENST00000613533 19/22 62 46 9 25 23 0 PER3,missense_variant,p.Ala1016Thr,ENST00000613533,NM_001289862.1;PER3,missense_variant,p.Ala1016Thr,ENST00000377532,;PER3,missense_variant,p.Ala1007Thr,ENST00000361923,NM_016831.2;PER3,intron_variant,,ENST00000614998,NM_001289864.1,NM_001289863.1,NM_001289861.1;Z98884.1,upstream_gene_variant,,ENST00000451646,; A ENSG00000049246 ENST00000613533 Transcript missense_variant 3310/6318 3046/3633 1016/1210 A/T Gct/Act rs1776342,COSM1134947 1 1 PER3 HGNC HGNC:8847 protein_coding YES CCDS72695.1 ENSP00000482093 P56645 UPI00003664CA NM_001289862.1 tolerated_low_confidence(0.54) benign(0.043) 19/22 mobidb-lite 0,1 MODERATE SNV 5 0,1 1 PASS CGC . . 9.582e-06 0.0001104 3.792e-05 7829993 CTNNB1 . GRCh38 chr3 41224610 41224610 + Missense_Mutation SNP C C T rs121913400 7316-341 BS_5BCMBVDR C C c.98C>T p.Ser33Phe p.S33F ENST00000645320 3/15 71 50 20 35 34 0 CTNNB1,missense_variant,p.Ser33Phe,ENST00000645320,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Phe,ENST00000433400,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000644524,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000644678,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000642986,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000645900,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643297,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643541,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643031,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646381,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000642836,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000645493,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645210,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642992,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645276,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644867,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644873,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642886,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643977,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000647264,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646174,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642315,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643992,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000647390,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645982,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644138,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642248,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646116,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646725,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642426,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646369,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000647413,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; T ENSG00000168036 ENST00000645320 Transcript missense_variant 1941/4735 98/2346 33/781 S/F tCt/tTt rs121913400,COSM5677,COSM5673,COSM5669 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0) probably_damaging(1) 3/15 hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 likely_pathogenic,pathogenic,other 0,1,1,1 10192393,9065402,9294210,10666372 MODERATE 1 SNV 1,1,1,1 1 PASS TCT . . 41224610 CCHCR1 . GRCh38 chr6 31145495 31145496 + Splice_Region INS - - G rs34338827 7316-341 BS_5BCMBVDR - - c.1694-3dup ENST00000396268 73 58 9 20 18 0 CCHCR1,splice_region_variant,,ENST00000376266,NM_019052.3;CCHCR1,splice_region_variant,,ENST00000396268,NM_001105564.1;CCHCR1,splice_region_variant,,ENST00000451521,NM_001105563.1;CCHCR1,intron_variant,,ENST00000396263,;CCHCR1,downstream_gene_variant,,ENST00000480060,;CCHCR1,splice_region_variant,,ENST00000509552,;CCHCR1,upstream_gene_variant,,ENST00000467553,;CCHCR1,upstream_gene_variant,,ENST00000486060,;POLR2LP1,downstream_gene_variant,,ENST00000444785,; G ENSG00000204536 ENST00000396268 Transcript splice_region_variant,intron_variant rs34338827 1 -1 CCHCR1 HGNC HGNC:13930 protein_coding YES CCDS43445.1 ENSP00000379566 Q8TD31 UPI0000E5ACDF NM_001105564.1 11/17 LOW 1 insertion 1 PASS CTG . . 31145495 SLC35E2A . GRCh38 chr1 1734736 1734736 + Missense_Mutation SNP C C T rs61777509 7316-226 BS_6PFQJMM3 C C c.686G>A p.Arg229His p.R229H ENST00000643905 5/6 33 26 7 17 17 0 SLC35E2A,missense_variant,p.Arg229His,ENST00000643905,NM_182838.2;SLC35E2A,missense_variant,p.Arg229His,ENST00000355439,NM_001199787.1;AL031282.2,non_coding_transcript_exon_variant,,ENST00000598846,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000647043,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000246421,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000475229,;AL031282.1,intron_variant,,ENST00000424604,;AL031282.1,intron_variant,,ENST00000577672,;AL031282.1,downstream_gene_variant,,ENST00000417099,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000643943,;AL031282.1,upstream_gene_variant,,ENST00000418950,; T ENSG00000215790 ENST00000643905 Transcript missense_variant 1109/6293 686/801 229/266 R/H cGt/cAt rs61777509,COSM4142977 1 -1 SLC35E2A HGNC HGNC:20863 protein_coding YES CCDS33.1 ENSP00000495949 UPI000006FA83 NM_182838.2 tolerated_low_confidence(0.23) possibly_damaging(0.477) 5/6 mobidb-lite,hmmpanther:PTHR44413,hmmpanther:PTHR44413:SF1 0,1 MODERATE SNV 0,1 PASS ACG . . 0.3075 0.08801 0.2931 0.3425 0.1221 0.4248 0.3581 0.3075 0.2544 1734736 RBMXL1 . GRCh38 chr1 88983185 88983185 + Nonsense_Mutation SNP A A T rs200907077 7316-226 BS_6PFQJMM3 A A c.642T>A p.Tyr214Ter p.Y214* ENST00000399794 3/3 99 75 24 36 35 1 RBMXL1,stop_gained,p.Tyr214Ter,ENST00000399794,NM_001162536.2;RBMXL1,stop_gained,p.Tyr214Ter,ENST00000321792,NM_019610.5;KYAT3,intron_variant,,ENST00000260508,NM_001008661.2,NM_001349448.1;KYAT3,intron_variant,,ENST00000370486,;KYAT3,intron_variant,,ENST00000370491,NM_001008662.2,NM_001349447.1;RBMXL1,downstream_gene_variant,,ENST00000413769,;KYAT3,intron_variant,,ENST00000446900,; T ENSG00000213516 ENST00000399794 Transcript stop_gained 1358/5084 642/1173 214/390 Y/* taT/taA rs200907077,COSM3730594 1 -1 RBMXL1 HGNC HGNC:25073 protein_coding YES CCDS716.1 ENSP00000446099 Q96E39 UPI000006DA18 NM_001162536.2 3/3 mobidb-lite,hmmpanther:PTHR44345:SF4,hmmpanther:PTHR44345,Pfam_domain:PF08081,blastprodom:PD922271 0,1 HIGH SNV 2 0,1 PASS AAT . . 88983185 IGFN1 . GRCh38 chr1 201210826 201210826 + Missense_Mutation SNP A A C rs77885442 7316-226 BS_6PFQJMM3 A A c.5933A>C p.Glu1978Ala p.E1978A ENST00000335211 12/24 72 58 11 26 25 0 IGFN1,missense_variant,p.Glu1978Ala,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; C ENSG00000163395 ENST00000335211 Transcript missense_variant 6063/11810 5933/11127 1978/3708 E/A gAa/gCa rs77885442,COSM3773455 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(1) benign(0.031) 12/24 mobidb-lite 0.1973 0.2073 0.1556 0.2073 0.2237 0.1759 0,1 MODERATE 1 SNV 5 0,1 PASS GAA . . 0.0001726 0.003925 7.509e-05 5.894e-05 6.484e-05 201210826 LY75-CD302 . GRCh38 chr2 159771952 159771952 + Missense_Mutation SNP G G T rs34068933 7316-226 BS_6PFQJMM3 G G c.5521C>A p.Arg1841Ser p.R1841S ENST00000504764 39/39 52 22 30 30 27 3 LY75-CD302,missense_variant,p.Arg1841Ser,ENST00000504764,NM_001198759.1;LY75-CD302,missense_variant,p.Arg1785Ser,ENST00000505052,NM_001198760.1;CD302,missense_variant,p.Arg163Ser,ENST00000553424,NM_001198764.1;CD302,missense_variant,p.Arg142Ser,ENST00000429078,NM_001198763.1;CD302,missense_variant,p.Arg200Ser,ENST00000259053,NM_014880.4;MARCH7,downstream_gene_variant,,ENST00000259050,NM_022826.3;MARCH7,downstream_gene_variant,,ENST00000409175,NM_001282805.1;MARCH7,downstream_gene_variant,,ENST00000409591,NM_001282807.1;MARCH7,downstream_gene_variant,,ENST00000420397,;MARCH7,downstream_gene_variant,,ENST00000539065,NM_001282806.1;CD302,non_coding_transcript_exon_variant,,ENST00000480212,;MARCH7,downstream_gene_variant,,ENST00000478396,; T ENSG00000248672 ENST00000504764 Transcript missense_variant 5549/5650 5521/5622 1841/1873 R/S Cgt/Agt rs34068933 1 -1 LY75-CD302 HGNC HGNC:38828 protein_coding YES CCDS56141.1 ENSP00000423463 UPI00018817E3 NM_001198759.1 tolerated(0.29) benign(0) 39/39 hmmpanther:PTHR22803:SF65,hmmpanther:PTHR22803 0.0521 0.1861 0.0202 0.001 0.1371 0.003721 MODERATE SNV 2 PASS CGA . . 0.0125 0.1409 0.007386 0.04945 8.969e-05 0.001147 0.008574 0.0003249 159771952 CTNNB1 . GRCh38 chr3 41224610 41224610 + Missense_Mutation SNP C C T rs121913400 7316-226 BS_6PFQJMM3 C C c.98C>T p.Ser33Phe p.S33F ENST00000645320 3/15 62 51 11 16 16 0 CTNNB1,missense_variant,p.Ser33Phe,ENST00000645320,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Phe,ENST00000433400,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000644524,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000644678,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000642986,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000645900,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643297,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643541,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643031,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646381,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000642836,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000645493,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645210,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642992,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645276,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644867,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644873,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642886,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643977,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000647264,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646174,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642315,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643992,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000647390,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645982,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644138,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642248,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646116,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646725,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642426,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646369,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000647413,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; T ENSG00000168036 ENST00000645320 Transcript missense_variant 1941/4735 98/2346 33/781 S/F tCt/tTt rs121913400,COSM5677,COSM5673,COSM5669 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0) probably_damaging(1) 3/15 hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 likely_pathogenic,pathogenic,other 0,1,1,1 10192393,9065402,9294210,10666372 MODERATE 1 SNV 1,1,1,1 1 PASS TCT . . 41224610 MUC4 . GRCh38 chr3 195786160 195786160 + Missense_Mutation SNP A A G rs746800908 7316-226 BS_6PFQJMM3 A A c.5420T>C p.Ile1807Thr p.I1807T ENST00000463781 2/25 89 67 18 46 45 1 MUC4,missense_variant,p.Ile1807Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ile1807Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ile1807Thr,ENST00000478156,;MUC4,missense_variant,p.Ile1807Thr,ENST00000466475,;MUC4,missense_variant,p.Ile1807Thr,ENST00000477756,;MUC4,missense_variant,p.Ile1807Thr,ENST00000477086,;MUC4,missense_variant,p.Ile1807Thr,ENST00000480843,;MUC4,missense_variant,p.Ile1807Thr,ENST00000462323,;MUC4,missense_variant,p.Ile1807Thr,ENST00000470451,;MUC4,missense_variant,p.Ile1807Thr,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 5880/17110 5420/16239 1807/5412 I/T aTc/aCc rs746800908,COSM2946238 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(1) benign(0.158) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GAT . . 0.009495 0.03316 0.008964 0.002755 0.01682 0.0006058 0.007124 0.00825 0.02049 195786160 MUC4 . GRCh38 chr3 195786872 195786872 + Missense_Mutation SNP G G T rs59668135 7316-226 BS_6PFQJMM3 G G c.4708C>A p.Pro1570Thr p.P1570T ENST00000463781 2/25 42 30 11 31 29 1 MUC4,missense_variant,p.Pro1570Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro1570Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro1570Thr,ENST00000478156,;MUC4,missense_variant,p.Pro1570Thr,ENST00000466475,;MUC4,missense_variant,p.Pro1570Thr,ENST00000477756,;MUC4,missense_variant,p.Pro1570Thr,ENST00000477086,;MUC4,missense_variant,p.Pro1570Thr,ENST00000480843,;MUC4,missense_variant,p.Pro1570Thr,ENST00000462323,;MUC4,missense_variant,p.Pro1570Thr,ENST00000470451,;MUC4,missense_variant,p.Pro1570Thr,ENST00000479406,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 5168/17110 4708/16239 1570/5412 P/T Cct/Act rs59668135,COSM4157859 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.03) probably_damaging(0.935) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGA . . 0.08873 0.3003 0.07485 0.09605 0.0004855 0.06977 0.1038 0.1039 0.05369 195786872 BTN2A1 . GRCh38 chr6 26458678 26458680 + In_Frame_Del DEL CCT CCT - rs1357498872 7316-226 BS_6PFQJMM3 CCT CCT c.58_60del p.Leu20del p.L20del ENST00000312541 2/8 60 38 6 17 17 0 BTN2A1,inframe_deletion,p.Leu20del,ENST00000429381,NM_078476.3;BTN2A1,inframe_deletion,p.Leu20del,ENST00000312541,NM_007049.4;BTN2A1,inframe_deletion,p.Leu20del,ENST00000469185,NM_001197234.2;BTN2A1,intron_variant,,ENST00000493173,;BTN2A1,intron_variant,,ENST00000541522,NM_001197233.2;BTN2A1,inframe_deletion,p.Leu20del,ENST00000377600,;,regulatory_region_variant,,ENSR00000195039,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; - ENSG00000112763 ENST00000312541 Transcript inframe_deletion 290-292/2920 42-44/1584 14-15/527 SL/S tcCCTc/tcc rs1357498872 1 1 BTN2A1 HGNC HGNC:1136 protein_coding YES CCDS4613.1 ENSP00000312158 Q7KYR7 UPI00000480E9 NM_007049.4 2/8 PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF79,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 deletion 1 16 PASS TCCCTC . . 26458677 MUC21 . GRCh38 chr6 30986834 30986834 + Missense_Mutation SNP A A G rs202115956 7316-226 BS_6PFQJMM3 A A c.659A>G p.Asn220Ser p.N220S ENST00000376296 2/3 43 28 13 23 22 1 MUC21,missense_variant,p.Asn220Ser,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,; G ENSG00000204544 ENST00000376296 Transcript missense_variant 900/3651 659/1701 220/566 N/S aAt/aGt rs202115956,COSM5763569 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 tolerated(1) benign(0) 2/3 mobidb-lite,hmmpanther:PTHR39408,hmmpanther:PTHR39408,Pfam_domain:PF05647,Pfam_domain:PF05647 0,1 MODERATE 1 SNV 1 0,1 PASS AAT . . 0.0003496 0.0001916 0.0005965 0.0002985 0.0002112 0.0009809 0.001044 30986834 HLA-DQA1 . GRCh38 chr6 32642096 32642096 + Missense_Mutation SNP G G C rs707950 7316-226 BS_6PFQJMM3 G G c.456G>C p.Gln152His p.Q152H ENST00000343139 3/5 39 28 10 19 19 0 HLA-DQA1,missense_variant,p.Gln152His,ENST00000343139,NM_002122.3;HLA-DQA1,missense_variant,p.Gln152His,ENST00000395363,;HLA-DQA1,missense_variant,p.Gln152His,ENST00000374949,;HLA-DQA1,missense_variant,p.Gln152His,ENST00000496318,;HLA-DQA1,downstream_gene_variant,,ENST00000422863,;HLA-DQA1,3_prime_UTR_variant,,ENST00000482745,;HLA-DQA1,non_coding_transcript_exon_variant,,ENST00000460633,; C ENSG00000196735 ENST00000343139 Transcript missense_variant 558/1591 456/768 152/255 Q/H caG/caC rs707950,COSM3733803 1 1 HLA-DQA1 HGNC HGNC:4942 protein_coding YES CCDS4752.1 ENSP00000339398 P01909 A0A173ADG5 UPI0000140E19 NM_002122.3 tolerated(0.63) benign(0) 3/5 Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF54,SMART_domains:SM00407,Superfamily_domains:SSF48726,cd05767 0.4402 0.6816 0.5188 0.5447 0.6135 0,1 MODERATE 1 SNV 0,1 1 PASS AGT . . 0.6001 0.4232 0.7434 0.7305 0.6324 0.4983 0.5491 0.5852 0.6979 32642096 ACTR3C . GRCh38 chr7 150286476 150286476 + Missense_Mutation SNP T T C rs28634863 7316-226 BS_6PFQJMM3 T T c.362A>G p.Gln121Arg p.Q121R ENST00000252071 5/8 58 34 24 12 12 0 ACTR3C,missense_variant,p.Gln119Arg,ENST00000478393,;ACTR3C,missense_variant,p.Gln121Arg,ENST00000252071,NM_001164458.1,NM_001164459.1;ACTR3C,missense_variant,p.Gln220Arg,ENST00000477871,;ACTR3C,missense_variant,p.Gln121Arg,ENST00000539352,;,regulatory_region_variant,,ENSR00000219679,;,regulatory_region_variant,,ENSR00000329032,; C ENSG00000106526 ENST00000252071 Transcript missense_variant 552/1218 362/633 121/210 Q/R cAg/cGg rs28634863,COSM150416 1 -1 ACTR3C HGNC HGNC:37282 protein_coding YES CCDS47744.1 ENSP00000252071 Q9C0K3 UPI000007168D NM_001164458.1,NM_001164459.1 tolerated(0.46) benign(0) 5/8 Gene3D:3.90.640.10,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF170,SMART_domains:SM00268,Superfamily_domains:SSF53067 0.2885 0.559 0.1023 0.1974 0.0954 0.3476 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 0.1619 0.5209 0.1164 0.08432 0.192 0.2267 0.07998 0.1362 0.3086 150286476 FRG1HP . GRCh38 chr9 40994700 40994700 + Splice_Site SNP G G A rs113676670 7316-226 BS_6PFQJMM3 G G n.526+1G>A ENST00000611606 99 80 19 59 59 0 FRG1HP,splice_donor_variant,,ENST00000610803,;FRG1HP,splice_donor_variant,,ENST00000611606,;FRG1HP,splice_donor_variant,,ENST00000615326,;FRG1HP,splice_donor_variant,,ENST00000618340,;FRG1HP,splice_donor_variant,,ENST00000617940,; A ENSG00000276291 ENST00000611606 Transcript splice_donor_variant,non_coding_transcript_variant rs113676670 1 1 FRG1HP HGNC HGNC:51767 processed_transcript YES 2/4 HIGH 1 SNV 1 PASS GGT . . 40994700 CNTNAP3B . GRCh38 chr9 41964577 41964577 + Missense_Mutation SNP A A C rs76032838 7316-226 BS_6PFQJMM3 A A c.1717T>G p.Cys573Gly p.C573G ENST00000377561 11/24 86 66 19 21 21 0 CNTNAP3B,missense_variant,p.Cys573Gly,ENST00000612828,;CNTNAP3B,missense_variant,p.Cys573Gly,ENST00000377561,NM_001201380.2;CNTNAP3B,missense_variant,p.Cys573Gly,ENST00000341990,;CNTNAP3B,intron_variant,,ENST00000617422,;CNTNAP3B,upstream_gene_variant,,ENST00000491438,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;CNTNAP3B,intron_variant,,ENST00000479351,;CNTNAP3B,intron_variant,,ENST00000619138,; C ENSG00000154529 ENST00000377561 Transcript missense_variant 2110/5379 1717/3867 573/1288 C/G Tgt/Ggt rs76032838,COSM3763948 1 -1 CNTNAP3B HGNC HGNC:32035 protein_coding YES CCDS75836.1 ENSP00000478671 Q96NU0 UPI00043788D3 NM_001201380.2 deleterious(0) probably_damaging(1) 11/24 PROSITE_profiles:PS50026,cd00054,hmmpanther:PTHR43925:SF6,hmmpanther:PTHR43925,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196 0,1 MODERATE 1 SNV 1 0,1 PASS CAG . . 41964577 LYZL2 . GRCh38 chr10 30629620 30629620 + Missense_Mutation SNP G G C rs201069868 7316-226 BS_6PFQJMM3 G G c.86C>G p.Ala29Gly p.A29G ENST00000375318 1/5 64 50 13 31 31 0 LYZL2,missense_variant,p.Ala29Gly,ENST00000375318,NM_183058.2; C ENSG00000151033 ENST00000375318 Transcript missense_variant 143/818 86/585 29/194 A/G gCg/gGg rs201069868,COSM1582057,COSM1179472 1 -1 LYZL2 HGNC HGNC:29613 protein_coding YES CCDS7167.2 ENSP00000364467 Q7Z4W2 A0A080YUZ9 UPI0000160E06 NM_183058.2 tolerated_low_confidence(0.54) benign(0) 1/5 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGC . . 0.2228 0.1711 0.3402 0.1787 0.3 0.2939 0.1692 0.2207 0.2361 30629620 SORBS1 . GRCh38 chr10 95315130 95315130 + Splice_Region SNP T T C rs35348091 7316-226 BS_6PFQJMM3 T T c.3812-4A>G ENST00000371247 53 48 5 42 42 0 SORBS1,splice_region_variant,,ENST00000277982,NM_001034955.1;SORBS1,splice_region_variant,,ENST00000306402,NM_001290295.1,NM_024991.2;SORBS1,splice_region_variant,,ENST00000354106,NM_001290296.1,NM_001290298.1;SORBS1,splice_region_variant,,ENST00000361941,NM_001034954.1;SORBS1,splice_region_variant,,ENST00000371227,NM_001290294.1;SORBS1,splice_region_variant,,ENST00000371239,NM_001290297.1;SORBS1,splice_region_variant,,ENST00000371241,NM_006434.2,NM_001034957.1;SORBS1,splice_region_variant,,ENST00000371245,NM_001034956.1;SORBS1,splice_region_variant,,ENST00000371246,;SORBS1,splice_region_variant,,ENST00000371247,;SORBS1,splice_region_variant,,ENST00000371249,NM_015385.3;SORBS1,splice_region_variant,,ENST00000607232,;SORBS1,splice_region_variant,,ENST00000634504,; C ENSG00000095637 ENST00000371247 Transcript splice_region_variant,intron_variant rs35348091 1 -1 SORBS1 HGNC HGNC:14565 protein_coding YES CCDS31255.1 ENSP00000360293 Q9BX66 UPI000013D6B7 32/32 0.0315 0.0076 0.0447 0.002 0.0845 0.0307 0.01453 0.06953 LOW 1 SNV 5 PASS ATG . . 0.0531 0.01092 0.0395 0.08821 0.0002321 0.0642 0.06829 0.05718 0.04396 95315130 PLCB3 . GRCh38 chr11 64265036 64265036 + Missense_Mutation SNP T T C rs1323665307 7316-226 BS_6PFQJMM3 T T c.2738T>C p.Leu913Pro p.L913P ENST00000540288 23/32 42 28 10 14 13 0 PLCB3,missense_variant,p.Leu913Pro,ENST00000540288,NM_000932.2,NM_001316314.1;PLCB3,missense_variant,p.Leu913Pro,ENST00000279230,;PLCB3,missense_variant,p.Leu846Pro,ENST00000325234,NM_001184883.1;BAD,downstream_gene_variant,,ENST00000309032,NM_032989.2;BAD,downstream_gene_variant,,ENST00000394532,NM_004322.3;BAD,downstream_gene_variant,,ENST00000544785,;PLCB3,downstream_gene_variant,,ENST00000536243,; C ENSG00000149782 ENST00000540288 Transcript missense_variant 2841/4469 2738/3705 913/1234 L/P cTg/cCg rs1323665307 1 1 PLCB3 HGNC HGNC:9056 protein_coding YES CCDS8064.1 ENSP00000443631 Q01970 UPI0000131AFF NM_000932.2,NM_001316314.1 tolerated(0.21) benign(0) 23/32 PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF11,mobidb-lite MODERATE 1 SNV 1 PASS CTG . . 64265036 TAS2R46 . GRCh38 chr12 11061370 11061370 + Missense_Mutation SNP A A G rs2599402 7316-226 BS_6PFQJMM3 A A c.925T>C p.Ser309Pro p.S309P ENST00000533467 1/1 78 68 8 49 48 0 TAS2R46,missense_variant,p.Ser309Pro,ENST00000533467,NM_176887.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; G ENSG00000226761 ENST00000533467 Transcript missense_variant 925/930 925/930 309/309 S/P Tca/Cca rs2599402,COSM1180610 1 -1 TAS2R46 HGNC HGNC:18877 protein_coding YES CCDS53748.1 ENSP00000436450 P59540 UPI000000D821 NM_176887.2 tolerated_low_confidence(0.06) benign(0) 1/1 Gene3D:1.20.1070.10 0,1 MODERATE SNV 0,1 PASS GAA . . 11061370 TAS2R46 . GRCh38 chr12 11061395 11061395 + Nonsense_Mutation SNP C C T rs754611567 7316-226 BS_6PFQJMM3 C C c.900G>A p.Trp300Ter p.W300* ENST00000533467 1/1 79 62 16 50 46 1 TAS2R46,stop_gained,p.Trp300Ter,ENST00000533467,NM_176887.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; T ENSG00000226761 ENST00000533467 Transcript stop_gained 900/930 900/930 300/309 W/* tgG/tgA rs754611567,COSM1267436 1 -1 TAS2R46 HGNC HGNC:18877 protein_coding YES CCDS53748.1 ENSP00000436450 P59540 UPI000000D821 NM_176887.2 1/1 Gene3D:1.20.1070.10,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF66,Superfamily_domains:SSF81321 0,1 HIGH SNV 0,1 PASS CCC . . 11061395 GOLGA6L6 . GRCh38 chr15 20534978 20534978 + Missense_Mutation SNP C C T rs758066328 7316-226 BS_6PFQJMM3 C C c.1456G>A p.Val486Met p.V486M ENST00000619213 8/9 39 33 6 27 27 0 GOLGA6L6,missense_variant,p.Val486Met,ENST00000619213,NM_001145004.2; T ENSG00000277322 ENST00000619213 Transcript missense_variant 1547/4013 1456/2175 486/724 V/M Gtg/Atg rs758066328 1 -1 GOLGA6L6 HGNC HGNC:37225 protein_coding YES CCDS45184.1 ENSP00000480376 A8MZA4 UPI000442CF04 NM_001145004.2 tolerated(1) benign(0) 8/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF20 MODERATE 1 SNV 5 PASS ACC . . 3.716e-05 4.631e-05 0.0002551 2e-05 4.663e-05 20534978 GOLGA6L2 . GRCh38 chr15 23445306 23445306 + Splice_Region SNP C C T rs2344895 7316-226 BS_6PFQJMM3 C C c.213+4G>A ENST00000567107 34 27 6 19 19 0 GOLGA6L2,splice_region_variant,,ENST00000312015,;GOLGA6L2,splice_region_variant,,ENST00000345070,;GOLGA6L2,splice_region_variant,,ENST00000567107,NM_001304388.1;GOLGA6L2,splice_region_variant,,ENST00000566571,; T ENSG00000174450 ENST00000567107 Transcript splice_region_variant,intron_variant rs2344895 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 2/7 LOW 1 SNV 5 PASS CCC . . 0.1989 0.6186 0.2864 0.1374 0.2366 0.03046 0.0964 0.2568 0.178 23445306 CSPG4 . GRCh38 chr15 75689717 75689717 + Missense_Mutation SNP T T A rs147116973 7316-226 BS_6PFQJMM3 T T c.1348A>T p.Arg450Trp p.R450W ENST00000308508 3/10 68 57 10 26 25 0 CSPG4,missense_variant,p.Arg450Trp,ENST00000308508,NM_001897.4; A ENSG00000173546 ENST00000308508 Transcript missense_variant 1441/8290 1348/6969 450/2322 R/W Agg/Tgg rs147116973,COSM1317755 1 -1 CSPG4 HGNC HGNC:2466 protein_coding YES CCDS10284.1 ENSP00000312506 Q6UVK1 UPI00001AEEB6 NM_001897.4 tolerated(0.08) benign(0.43) 3/10 hmmpanther:PTHR15036:SF17,hmmpanther:PTHR15036,Pfam_domain:PF16184 0,1 MODERATE 1 SNV 1 0,1 PASS CTC . . 0.01275 0.05982 0.004768 0.01371 0.001059 0.01648 0.007568 0.009529 0.02384 75689717 ZNF676 . GRCh38 chr19 22180848 22180848 + Missense_Mutation SNP G G A rs79444294 7316-226 BS_6PFQJMM3 G G c.869C>T p.Ser290Phe p.S290F ENST00000397121 3/3 61 45 12 29 29 0 ZNF676,missense_variant,p.Ser290Phe,ENST00000397121,NM_001001411.2; A ENSG00000196109 ENST00000397121 Transcript missense_variant 1187/2944 869/1767 290/588 S/F tCc/tTc rs79444294,COSM4131559 1 -1 ZNF676 HGNC HGNC:20429 protein_coding YES CCDS42539.1 ENSP00000380310 Q8N7Q3 UPI00002376EC NM_001001411.2 tolerated(1) benign(0.005) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384,hmmpanther:PTHR24384,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS GGA . . 0.3456 0.2284 0.4157 0.4097 0.3302 0.3436 0.3056 0.3938 0.4328 22180848 LILRB3 . GRCh38 chr19 54221170 54221170 + Missense_Mutation SNP A A G novel 7316-226 BS_6PFQJMM3 A A c.868T>C p.Tyr290His p.Y290H ENST00000245620 5/13 52 36 13 19 19 0 LILRB3,missense_variant,p.Tyr290His,ENST00000391750,NM_001320960.1,NM_006864.3;LILRB3,missense_variant,p.Tyr290His,ENST00000346401,;LILRB3,missense_variant,p.Tyr290His,ENST00000245620,NM_001081450.2;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,;,regulatory_region_variant,,ENSR00000111471,; G ENSG00000204577 ENST00000245620 Transcript missense_variant 870/2066 868/1899 290/632 Y/H Tac/Cac 1 -1 LILRB3 HGNC HGNC:6607 protein_coding YES CCDS46175.1 ENSP00000245620 O75022 UPI00034F2393 NM_001081450.2 tolerated(1) benign(0) 5/13 Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS TAG . . 54221170 LILRA2 . GRCh38 chr19 54574349 54574349 + Missense_Mutation SNP T T C rs777406331 7316-226 BS_6PFQJMM3 T T c.119T>C p.Ile40Thr p.I40T ENST00000251377 4/9 75 55 16 31 31 0 LILRA2,missense_variant,p.Ile40Thr,ENST00000251376,NM_001290271.1,NM_006866.3;LILRA2,missense_variant,p.Ile40Thr,ENST00000251377,;LILRA2,missense_variant,p.Ile40Thr,ENST00000391738,NM_001130917.2;LILRA2,missense_variant,p.Ile40Thr,ENST00000439534,;LILRA2,missense_variant,p.Ile28Thr,ENST00000391737,NM_001290270.1;LILRA2,missense_variant,p.Ile40Thr,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000111531,; C ENSG00000239998 ENST00000251377 Transcript missense_variant 252/1799 119/1452 40/483 I/T aTc/aCc rs777406331 1 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000251377 Q8N149 UPI00034F238E tolerated(0.74) benign(0) 4/9 Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05751 MODERATE 1 SNV 5 PASS ATC . . 8.122e-06 1.79e-05 54574349 LILRA1 . GRCh38 chr19 54595388 54595388 + Missense_Mutation SNP A A G rs746765959 7316-226 BS_6PFQJMM3 A A c.647A>G p.Glu216Gly p.E216G ENST00000251372 5/10 64 53 11 26 26 0 LILRA1,missense_variant,p.Glu216Gly,ENST00000453777,NM_001278318.1;LILRA1,missense_variant,p.Glu216Gly,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; G ENSG00000104974 ENST00000251372 Transcript missense_variant 829/1910 647/1470 216/489 E/G gAg/gGg rs746765959 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 deleterious(0) benign(0.109) 5/10 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00409,Superfamily_domains:SSF48726,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAG . . 8.234e-06 6.032e-05 54595388 AC245047.8 . GRCh38 chrX 48277080 48277081 + Splice_Region INS - - A rs1257363593 7316-226 BS_6PFQJMM3 - - n.70-5dup ENST00000456455 36 26 6 17 17 0 AC245047.8,splice_region_variant,,ENST00000456455,;AC245047.4,upstream_gene_variant,,ENST00000433189,;AC245047.6,upstream_gene_variant,,ENST00000445444,; A ENSG00000241207 ENST00000456455 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1257363593 1 -1 AC245047.8 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/2 LOW 1 insertion PASS ACA . . 48277080 TCHH . GRCh38 chr1 152108268 152108268 + Missense_Mutation SNP G G T rs530417912 7316-1773 BS_YHZ69SDZ G G c.4949C>A p.Pro1650Gln p.P1650Q ENST00000614923 3/3 74 68 6 43 42 0 TCHH,missense_variant,p.Pro1650Gln,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Pro1650Gln,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 5044/6995 4949/5832 1650/1943 P/Q cCg/cAg rs530417912,COSM4221222 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.54) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34855,hmmpanther:PTHR34855 0.0006 0.002 0.001 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGG . . 1.355e-05 0.0001116 152108268 HRNR . GRCh38 chr1 152219743 152219743 + Missense_Mutation SNP G G C rs79513582 7316-1773 BS_YHZ69SDZ G G c.1886C>G p.Thr629Ser p.T629S ENST00000368801 3/3 70 59 9 42 42 0 HRNR,missense_variant,p.Thr629Ser,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;,regulatory_region_variant,,ENSR00000254438,; C ENSG00000197915 ENST00000368801 Transcript missense_variant 1962/9623 1886/8553 629/2850 T/S aCc/aGc rs79513582,COSM4221390 1 -1 HRNR HGNC HGNC:20846 protein_coding YES CCDS30859.1 ENSP00000357791 Q86YZ3 UPI00001D7CAD NM_001009931.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25 0,1 MODERATE 1 SNV 1 0,1 PASS GGT . . 0.05641 0.06104 0.06283 0.03329 0.1102 0.05595 0.05014 0.07526 0.04557 152219743 IGFN1 . GRCh38 chr1 201209748 201209748 + Missense_Mutation SNP G G A rs189258058 7316-1773 BS_YHZ69SDZ G G c.4855G>A p.Gly1619Ser p.G1619S ENST00000335211 12/24 62 49 8 32 31 0 IGFN1,missense_variant,p.Gly1619Ser,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; A ENSG00000163395 ENST00000335211 Transcript missense_variant 4985/11810 4855/11127 1619/3708 G/S Ggt/Agt rs189258058,COSM5461500 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated_low_confidence(0.06) unknown(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS AGG . . 1.488e-05 8.915e-05 201209748 IGFN1 . GRCh38 chr1 201209940 201209940 + Missense_Mutation SNP G G A rs199816935 7316-1773 BS_YHZ69SDZ G G c.5047G>A p.Gly1683Arg p.G1683R ENST00000335211 12/24 71 51 15 35 33 0 IGFN1,missense_variant,p.Gly1683Arg,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; A ENSG00000163395 ENST00000335211 Transcript missense_variant 5177/11810 5047/11127 1683/3708 G/R Gga/Aga rs199816935,COSM4595087 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated_low_confidence(0.12) unknown(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 0.000975 0.007515 0.001579 0.0001391 0.0003258 0.000876 0.0003519 0.000106 201209940 AQP12A . GRCh38 chr2 240692045 240692045 + Splice_Site DEL G G - rs780076932 7316-1773 BS_YHZ69SDZ G G c.133del p.Val45CysfsTer10 p.X45_splice ENST00000429564 1/4 34 22 6 23 21 0 AQP12A,splice_acceptor_variant,p.Val45CysfsTer10,ENST00000429564,;AQP12A,intron_variant,,ENST00000337801,NM_198998.2;AC011298.1,downstream_gene_variant,,ENST00000407635,;AQP12A,upstream_gene_variant,,ENST00000460527,;AQP12A,upstream_gene_variant,,ENST00000471878,;AQP12A,upstream_gene_variant,,ENST00000474778,; - ENSG00000184945 ENST00000429564 Transcript splice_acceptor_variant,frameshift_variant 195/1110 132/924 44/307 A/X gcG/gc rs780076932 1 1 AQP12A HGNC HGNC:19941 protein_coding YES ENSP00000405899 C9J6F6 UPI0001AE77C7 1/4 hmmpanther:PTHR21191,hmmpanther:PTHR21191:SF8,Gene3D:1.20.1080.10,PIRSF_domain:PIRSF017529,Superfamily_domains:SSF81338 HIGH deletion 5 2 PASS GCGG . . 6.867e-05 0.000145 0.0004686 9.173e-06 240692044 SLC9B1 . GRCh38 chr4 102905612 102905612 + Nonsense_Mutation SNP G G A rs200075071 7316-1773 BS_YHZ69SDZ G G c.1234C>T p.Arg412Ter p.R412* ENST00000296422 11/12 80 62 17 44 43 1 SLC9B1,stop_gained,p.Arg412Ter,ENST00000296422,NM_139173.3;SLC9B1,stop_gained,p.Arg412Ter,ENST00000394789,NM_001100874.2;SLC9B1,downstream_gene_variant,,ENST00000511253,;SLC9B1,intron_variant,,ENST00000509614,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,downstream_gene_variant,,ENST00000510243,; A ENSG00000164037 ENST00000296422 Transcript stop_gained 1376/1879 1234/1548 412/515 R/* Cga/Tga rs200075071,COSM3733507 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 11/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 HIGH 1 SNV 1 0,1 PASS CGA . . 0.0001579 0.0005428 0.0001234 0.0001026 0.0004213 4.504e-05 0.0001369 6.662e-05 102905612 LRBA . GRCh38 chr4 150761852 150761852 + Splice_Region DEL A A - rs766857985 7316-1773 BS_YHZ69SDZ A A c.5581-5del ENST00000357115 93 79 7 35 34 0 LRBA,splice_region_variant,,ENST00000357115,NM_006726.4;LRBA,splice_region_variant,,ENST00000507224,;LRBA,splice_region_variant,,ENST00000509835,;LRBA,splice_region_variant,,ENST00000510413,NM_001199282.2; - ENSG00000198589 ENST00000357115 Transcript splice_region_variant,intron_variant rs766857985,TMP_ESP_4_151683004_151683004,COSM4774401 1 -1 LRBA HGNC HGNC:1742 protein_coding YES CCDS3773.1 ENSP00000349629 P50851 UPI000013E35C NM_006726.4 34/57 0.07412 0.06717 0,0,1 LOW 1 deletion 1 0,0,1 1 PASS ATAA . . 0.01448 0.01349 0.02692 0.02659 0.02681 0.004727 0.012 0.01747 0.01719 150761851 HLA-A . GRCh38 chr6 29944116 29944116 + Splice_Region SNP C C T rs9260172 7316-1773 BS_YHZ69SDZ C C c.620-6C>T ENST00000396634 51 35 15 19 19 0 HLA-A,splice_region_variant,,ENST00000376802,;HLA-A,splice_region_variant,,ENST00000376806,;HLA-A,splice_region_variant,,ENST00000376809,NM_002116.7;HLA-A,splice_region_variant,,ENST00000396634,;HLA-A,splice_region_variant,,ENST00000638375,;HLA-A,splice_region_variant,,ENST00000461903,;HLA-A,splice_region_variant,,ENST00000479320,;HLA-A,splice_region_variant,,ENST00000495183,;HLA-A,splice_region_variant,,ENST00000496081,;AL671277.1,upstream_gene_variant,,ENST00000429656,; T ENSG00000206503 ENST00000396634 Transcript splice_region_variant,intron_variant rs9260172,COSM5019214,COSM5019213 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D 5/9 0.3862 0.3623 0.4337 0.4514 0.4026 0.3006 0.2802 0.3542 0,1,1 LOW 1 SNV 0,1,1 1 PASS CCG . . 0.3881 0.3306 0.437 0.4093 0.4676 0.3939 0.3895 0.3633 0.3072 29944116 HLA-A . GRCh38 chr6 29944252 29944252 + Frame_Shift_Del DEL G G - rs60304108 7316-1773 BS_YHZ69SDZ G G c.751del p.Asp251ThrfsTer46 p.D251Tfs*46 ENST00000396634 6/10 37 22 11 24 24 0 HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000396634,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376806,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376809,NM_002116.7;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376802,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;AL671277.1,upstream_gene_variant,,ENST00000429656,; - ENSG00000206503 ENST00000396634 Transcript frameshift_variant 1091/1868 750/1098 250/365 Q/X caG/ca rs60304108,COSM5887934,COSM5887933,COSM5000719,COSM451152 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D 6/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,cd07698,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726,PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.4153 0.402 0.2857 0.3757 0.3701 0.3666 0.3685 0,1,1,1,1 HIGH 1 deletion 1 0,1,1,1,1 1 PASS CAGG . . 0.3577 0.3496 0.3496 0.3912 0.2297 0.3699 0.3914 0.3314 0.2963 29944251 HLA-A . GRCh38 chr6 29944253 29944253 + Missense_Mutation SNP G G C rs145046067 7316-1773 BS_YHZ69SDZ G G c.751G>C p.Asp251His p.D251H ENST00000396634 6/10 37 25 12 24 22 0 HLA-A,missense_variant,p.Asp251His,ENST00000396634,;HLA-A,missense_variant,p.Asp251His,ENST00000376806,;HLA-A,missense_variant,p.Asp251His,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.Asp251His,ENST00000376802,;HLA-A,missense_variant,p.Asp251His,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;AL671277.1,upstream_gene_variant,,ENST00000429656,; C ENSG00000206503 ENST00000396634 Transcript missense_variant 1092/1868 751/1098 251/365 D/H Gac/Cac rs145046067,CD994645,COSM5446135,COSM5446134,COSM4593407,COSM4006265 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D deleterious_low_confidence(0) probably_damaging(0.972) 6/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,cd07698,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726,PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.3706 0.4153 0.402 0.2857 0.3757 0.3701 0,0,1,1,1,1 MODERATE 1 SNV 0,1,1,1,1,1 1 PASS GGA . . 0.3597 0.3513 0.3517 0.3928 0.2315 0.3708 0.3932 0.3348 0.2993 29944253 HLA-A . GRCh38 chr6 29944265 29944265 + Missense_Mutation SNP G G A rs150028516 7316-1773 BS_YHZ69SDZ G G c.763G>A p.Val255Met p.V255M ENST00000396634 6/10 38 27 11 23 23 0 HLA-A,missense_variant,p.Val255Met,ENST00000396634,;HLA-A,missense_variant,p.Val255Met,ENST00000376806,;HLA-A,missense_variant,p.Val255Met,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.Val255Met,ENST00000376802,;HLA-A,missense_variant,p.Val255Met,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;AL671277.1,upstream_gene_variant,,ENST00000429656,; A ENSG00000206503 ENST00000396634 Transcript missense_variant 1104/1868 763/1098 255/365 V/M Gtg/Atg rs150028516,COSM4690609,COSM4690608,COSM4597417,COSM216011 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D deleterious_low_confidence(0.01) probably_damaging(0.999) 6/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,cd07698,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726,PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.1717 0.1051 0.2262 0.2242 0.2127 0.1268 0,1,1,1,1 MODERATE 1 SNV 0,1,1,1,1 1 PASS CGT . . 0.1592 0.07186 0.1558 0.07917 0.1762 0.2325 0.1899 0.1311 0.0707 29944265 COPS5 . GRCh38 chr8 67043321 67043322 + Splice_Region INS - - A rs200155628 7316-1773 BS_YHZ69SDZ - - c.921-5dup ENST00000357849 78 69 6 43 42 0 COPS5,splice_region_variant,,ENST00000357849,NM_006837.2;COPS5,splice_region_variant,,ENST00000517736,;COPS5,splice_region_variant,,ENST00000523086,;PPP1R42,intron_variant,,ENST00000517834,;COPS5,splice_region_variant,,ENST00000518374,;COPS5,splice_region_variant,,ENST00000521509,;COPS5,non_coding_transcript_exon_variant,,ENST00000521386,;COPS5,downstream_gene_variant,,ENST00000523890,; A ENSG00000121022 ENST00000357849 Transcript splice_region_variant,intron_variant rs200155628 1 -1 COPS5 HGNC HGNC:2240 protein_coding YES CCDS6198.1 ENSP00000350512 Q92905 A0A024R7W9 UPI000006D7AB NM_006837.2 7/7 LOW 1 insertion 1 PASS GGA . . 0.002478 0.00218 0.005178 0.001886 0.003407 0.0005735 0.001923 0.003744 0.003205 67043321 SUGP2 . GRCh38 chr19 19033489 19033491 + In_Frame_Del DEL CCG CCG - rs748650026 7316-1773 BS_YHZ69SDZ CCG CCG c.29_31del p.Ala10del p.A10del ENST00000600377 1/10 73 61 5 30 26 0 SUGP2,inframe_deletion,p.Ala10del,ENST00000600377,NM_001321699.1,NM_001321698.1;SUGP2,5_prime_UTR_variant,,ENST00000452918,NM_001017392.4,NM_001352071.1;SUGP2,5_prime_UTR_variant,,ENST00000337018,NM_001321697.1,NM_014884.4;SUGP2,intron_variant,,ENST00000601879,;ARMC6,upstream_gene_variant,,ENST00000269932,;ARMC6,upstream_gene_variant,,ENST00000392335,NM_033415.3;ARMC6,upstream_gene_variant,,ENST00000392336,;ARMC6,upstream_gene_variant,,ENST00000535288,;ARMC6,upstream_gene_variant,,ENST00000535612,NM_001199196.1;ARMC6,upstream_gene_variant,,ENST00000536098,;ARMC6,upstream_gene_variant,,ENST00000537263,;ARMC6,upstream_gene_variant,,ENST00000538663,;ARMC6,upstream_gene_variant,,ENST00000540707,;ARMC6,upstream_gene_variant,,ENST00000540792,;ARMC6,upstream_gene_variant,,ENST00000541725,;ARMC6,upstream_gene_variant,,ENST00000541898,;ARMC6,upstream_gene_variant,,ENST00000543877,;ARMC6,upstream_gene_variant,,ENST00000546344,;SUGP2,upstream_gene_variant,,ENST00000594445,;SUGP2,non_coding_transcript_exon_variant,,ENST00000598202,;SUGP2,5_prime_UTR_variant,,ENST00000600239,;SUGP2,5_prime_UTR_variant,,ENST00000330854,;SUGP2,intron_variant,,ENST00000594773,;ARMC6,upstream_gene_variant,,ENST00000535758,;ARMC6,upstream_gene_variant,,ENST00000539985,;ARMC6,upstream_gene_variant,,ENST00000545091,;SUGP2,upstream_gene_variant,,ENST00000598240,;,regulatory_region_variant,,ENSR00000108181,; - ENSG00000064607 ENST00000600377 Transcript inframe_deletion,splice_region_variant 49-51/4752 29-31/3291 10-11/1096 AG/G gCGGgg/ggg rs748650026 1 -1 SUGP2 HGNC HGNC:18641 protein_coding YES CCDS82322.1 ENSP00000472914 M0R2Z9 UPI00001D8276 NM_001321699.1,NM_001321698.1 1/10 Low_complexity_(Seg):seg MODERATE deletion 2 PASS ACCCGC . . 0.02189 0.01987 0.02324 0.02279 0.02679 0.02033 0.02165 0.02097 0.02118 19033488 VN1R4 . GRCh38 chr19 53267316 53267316 + Missense_Mutation SNP G G C rs74359534 7316-1773 BS_YHZ69SDZ G G c.350C>G p.Ala117Gly p.A117G ENST00000311170 1/1 94 78 16 49 47 0 VN1R4,missense_variant,p.Ala117Gly,ENST00000311170,NM_173857.2;AC092070.4,downstream_gene_variant,,ENST00000599803,;,regulatory_region_variant,,ENSR00000289093,; C ENSG00000228567 ENST00000311170 Transcript missense_variant 408/1048 350/906 117/301 A/G gCa/gGa rs74359534,COSM4418249 1 -1 VN1R4 HGNC HGNC:19871 protein_coding YES CCDS33099.1 ENSP00000310856 Q7Z5H5 UPI000004B23A NM_173857.2 deleterious(0.03) benign(0.222) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF03402,Prints_domain:PR01534,PROSITE_profiles:PS50262,hmmpanther:PTHR24062,hmmpanther:PTHR24062:SF86,Superfamily_domains:SSF81321,cd13949 0.1337 0.04419 0,1 MODERATE SNV 0,1 PASS TGC . . 0.05259 0.1264 0.04146 0.04454 0.1167 0.03339 0.04074 0.04953 0.05954 53267316 IGLV3-25 . GRCh38 chr22 22687254 22687254 + Missense_Mutation SNP A A T rs199561156 7316-1773 BS_YHZ69SDZ A A c.320A>T p.Gln107Leu p.Q107L ENST00000390305 2/2 69 54 14 31 31 0 IGLV3-25,missense_variant,p.Gln107Leu,ENST00000390305,;,regulatory_region_variant,,ENSR00000301283,;AC244250.2,upstream_gene_variant,,ENST00000418731,; T ENSG00000211659 ENST00000390305 Transcript missense_variant 363/380 320/337 107/112 Q/L cAa/cTa rs199561156 1 1 IGLV3-25 HGNC HGNC:5908 IG_V_gene YES ENSP00000374840 P01717 UPI0004620D1D tolerated(0.31) benign(0.003) 2/2 MODERATE 1 SNV PASS CAA . . 0.0005433 0.0004881 0.000278 0.0003184 0.001249 0.0002429 0.0007252 0.0003826 0.0001688 22687254 TUBGCP6 . GRCh38 chr22 50220818 50220818 + Missense_Mutation SNP C C T rs202211995 7316-1773 BS_YHZ69SDZ C C c.3541G>A p.Ala1181Thr p.A1181T ENST00000248846 16/25 84 73 6 38 38 0 TUBGCP6,missense_variant,p.Ala1181Thr,ENST00000439308,;TUBGCP6,missense_variant,p.Ala1181Thr,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; T ENSG00000128159 ENST00000248846 Transcript missense_variant 3646/5612 3541/5460 1181/1819 A/T Gcc/Acc rs202211995,COSM3065045 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 tolerated(0.45) benign(0) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 8.076e-05 9.571e-05 0.0001711 0.0001958 0.0003616 50220818 UGGT1 . GRCh38 chr2 128123195 128123195 + Frame_Shift_Del DEL A A - novel 7316-124 BS_WCQW99V3 A A c.1087del p.Thr363GlnfsTer3 p.T363Qfs*3 ENST00000259253 11/41 73 62 5 36 34 0 UGGT1,frameshift_variant,p.Thr363GlnfsTer3,ENST00000259253,NM_020120.3;UGGT1,3_prime_UTR_variant,,ENST00000376723,;UGGT1,3_prime_UTR_variant,,ENST00000438277,; - ENSG00000136731 ENST00000259253 Transcript frameshift_variant 1130/10650 1083/4668 361/1555 T/X acA/ac 1 1 UGGT1 HGNC HGNC:15663 protein_coding YES CCDS2154.1 ENSP00000259253 Q9NYU2 UPI00000707D8 NM_020120.3 11/41 Pfam_domain:PF06427,hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF3 HIGH 1 deletion 1 4 PASS ACAA . . 128123194 CTNNB1 . GRCh38 chr3 41224634 41224634 + Missense_Mutation SNP C C T rs121913413 7316-124 BS_WCQW99V3 C C c.122C>T p.Thr41Ile p.T41I ENST00000645320 3/15 56 33 23 30 30 0 CTNNB1,missense_variant,p.Thr41Ile,ENST00000645320,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000349496,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000441708,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Thr41Ile,ENST00000433400,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000644524,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000644678,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000642986,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000645900,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000643297,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000643541,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Thr41Ile,ENST00000643031,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000646381,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000642836,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000645493,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000645210,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000642992,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000645276,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000644867,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000644873,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000642886,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000643977,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000647264,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000646174,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000642315,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000643992,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000647390,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000645982,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000644138,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000642248,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000646116,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000646725,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000642426,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000405570,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000646369,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000647413,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; T ENSG00000168036 ENST00000645320 Transcript missense_variant 1965/4735 122/2346 41/781 T/I aCc/aTc rs121913413,COSM5730,COSM5701,COSM5676 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0) probably_damaging(0.955) 3/15 mobidb-lite,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 likely_pathogenic,pathogenic 0,1,1,1 10192393 MODERATE 1 SNV 1,1,1,1 1 PASS ACC . . 41224634 TRPM6 . GRCh38 chr9 74747921 74747922 + Splice_Region INS - - A rs754094830 7316-124 BS_WCQW99V3 - - c.5058-8dup ENST00000360774 90 76 9 50 46 0 TRPM6,splice_region_variant,,ENST00000360774,NM_017662.4;TRPM6,splice_region_variant,,ENST00000361255,NM_001177311.1;TRPM6,splice_region_variant,,ENST00000449912,NM_001177310.1; A ENSG00000119121 ENST00000360774 Transcript splice_region_variant,intron_variant rs754094830 1 -1 TRPM6 HGNC HGNC:17995 protein_coding YES CCDS6647.1 ENSP00000354006 Q9BX84 UPI000006E041 NM_017662.4 30/38 LOW 1 insertion 1 1 PASS TGA . . 0.0001123 0.0001378 0.0001069 0.0001241 0.0001993 0.0001026 0.0002129 74747921 KCNMA1 . GRCh38 chr10 76910072 76910072 + Frame_Shift_Del DEL A A - novel 7316-124 BS_WCQW99V3 A A c.3041del p.Leu1014TrpfsTer34 p.L1014Wfs*34 ENST00000286628 25/28 91 81 5 48 43 0 KCNMA1,frameshift_variant,p.Leu986TrpfsTer34,ENST00000639913,;KCNMA1,frameshift_variant,p.Leu959TrpfsTer34,ENST00000638991,NM_001322829.1;KCNMA1,frameshift_variant,p.Leu956TrpfsTer34,ENST00000639601,;KCNMA1,frameshift_variant,p.Leu821TrpfsTer34,ENST00000604624,;KCNMA1,frameshift_variant,p.Leu956TrpfsTer34,ENST00000639486,NM_001322832.1;KCNMA1,frameshift_variant,p.Leu921TrpfsTer34,ENST00000639205,;KCNMA1,frameshift_variant,p.Leu1014TrpfsTer34,ENST00000286628,NM_001161352.1;KCNMA1,frameshift_variant,p.Leu956TrpfsTer34,ENST00000286627,NM_002247.3;KCNMA1,frameshift_variant,p.Leu985TrpfsTer34,ENST00000640969,;KCNMA1,frameshift_variant,p.Leu849TrpfsTer34,ENST00000354353,;KCNMA1,frameshift_variant,p.Leu959TrpfsTer34,ENST00000640141,NM_001322836.1;KCNMA1,frameshift_variant,p.Leu818TrpfsTer34,ENST00000406533,;KCNMA1,frameshift_variant,p.Leu986TrpfsTer34,ENST00000639406,NM_001271519.1;KCNMA1,frameshift_variant,p.Leu1021TrpfsTer34,ENST00000640523,;KCNMA1,frameshift_variant,p.Leu798TrpfsTer34,ENST00000638754,;KCNMA1,frameshift_variant,p.Leu987TrpfsTer34,ENST00000372443,NM_001322837.1,NM_001322835.1;KCNMA1,frameshift_variant,p.Leu921TrpfsTer34,ENST00000639498,;KCNMA1,frameshift_variant,p.Leu1018TrpfsTer34,ENST00000638848,;KCNMA1,frameshift_variant,p.Leu990TrpfsTer34,ENST00000638223,NM_001322830.1;KCNMA1,frameshift_variant,p.Leu956TrpfsTer34,ENST00000639090,;KCNMA1,frameshift_variant,p.Leu960TrpfsTer34,ENST00000639489,NM_001014797.2;KCNMA1,frameshift_variant,p.Leu910TrpfsTer34,ENST00000639344,;KCNMA1,frameshift_variant,p.Leu985TrpfsTer34,ENST00000434208,;KCNMA1,frameshift_variant,p.Leu1014TrpfsTer34,ENST00000404771,;KCNMA1,frameshift_variant,p.Leu1014TrpfsTer34,ENST00000457953,;KCNMA1,frameshift_variant,p.Leu1017TrpfsTer34,ENST00000639591,;KCNMA1,frameshift_variant,p.Leu963TrpfsTer34,ENST00000640605,;KCNMA1,frameshift_variant,p.Leu960TrpfsTer34,ENST00000638606,;KCNMA1,frameshift_variant,p.Leu960TrpfsTer34,ENST00000640182,;KCNMA1,frameshift_variant,p.Leu959TrpfsTer34,ENST00000372440,;KCNMA1,frameshift_variant,p.Leu959TrpfsTer34,ENST00000638351,;KCNMA1,frameshift_variant,p.Leu956TrpfsTer34,ENST00000638203,;KCNMA1,frameshift_variant,p.Leu956TrpfsTer34,ENST00000638306,;KCNMA1,frameshift_variant,p.Leu961TrpfsTer34,ENST00000372421,;KCNMA1,frameshift_variant,p.Leu921TrpfsTer34,ENST00000372408,;KCNMA1,frameshift_variant,p.Leu353TrpfsTer34,ENST00000639716,;KCNMA1,frameshift_variant,p.Leu958TrpfsTer34,ENST00000372437,;KCNMA1,frameshift_variant,p.Leu1018TrpfsTer34,ENST00000638759,;KCNMA1,frameshift_variant,p.Leu1017TrpfsTer34,ENST00000638575,;KCNMA1,frameshift_variant,p.Leu1000TrpfsTer34,ENST00000638514,;KCNMA1,frameshift_variant,p.Leu1014TrpfsTer34,ENST00000639544,;KCNMA1,frameshift_variant,p.Leu949TrpfsTer34,ENST00000638895,;KCNMA1,frameshift_variant,p.Leu956TrpfsTer34,ENST00000640834,;KCNMA1,frameshift_variant,p.Leu997TrpfsTer34,ENST00000626620,NM_001161353.1;KCNMA1,frameshift_variant,p.Leu924TrpfsTer34,ENST00000639823,;KCNMA1,frameshift_variant,p.Leu966TrpfsTer34,ENST00000639370,;KCNMA1,frameshift_variant,p.Leu918TrpfsTer34,ENST00000372403,;KCNMA1,frameshift_variant,p.Leu956TrpfsTer34,ENST00000640029,;KCNMA1,frameshift_variant,p.Leu953TrpfsTer34,ENST00000640934,;KCNMA1,frameshift_variant,p.Leu964TrpfsTer34,ENST00000640773,;KCNMA1,frameshift_variant,p.Leu920TrpfsTer34,ENST00000404857,NM_001322838.1;KCNMA1,frameshift_variant,p.Leu890TrpfsTer34,ENST00000638283,;KCNMA1,frameshift_variant,p.Leu906TrpfsTer34,ENST00000640807,NM_001271518.1;KCNMA1,frameshift_variant,p.Leu897TrpfsTer34,ENST00000638252,;KCNMA1,frameshift_variant,p.Leu840TrpfsTer34,ENST00000640626,;KCNMA1,frameshift_variant,p.Leu745TrpfsTer34,ENST00000639730,;KCNMA1,frameshift_variant,p.Leu767TrpfsTer34,ENST00000640353,;KCNMA1-AS1,intron_variant,,ENST00000426234,;KCNMA1-AS1,intron_variant,,ENST00000458661,;KCNMA1-AS1,intron_variant,,ENST00000600782,;KCNMA1-AS1,downstream_gene_variant,,ENST00000429850,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639069,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639851,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000640570,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000638999,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000638370,;KCNMA1,3_prime_UTR_variant,,ENST00000638751,;KCNMA1,3_prime_UTR_variant,,ENST00000639968,;KCNMA1,3_prime_UTR_variant,,ENST00000639483,;KCNMA1,3_prime_UTR_variant,,ENST00000639995,;KCNMA1,3_prime_UTR_variant,,ENST00000640093,;KCNMA1,3_prime_UTR_variant,,ENST00000639691,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000638632,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639657,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639321,; - ENSG00000156113 ENST00000286628 Transcript frameshift_variant 3174/6233 3041/3711 1014/1236 L/X tTg/tg 1 -1 KCNMA1 HGNC HGNC:6284 protein_coding YES CCDS60569.1 ENSP00000286628 Q12791 UPI00003519E7 NM_001161352.1 25/28 hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF28,Gene3D:3.40.50.720,Prints_domain:PR01449 HIGH 1 deletion 1 1 PASS CCAA . . 76910071 LIPN . GRCh38 chr10 88770849 88770849 + Frame_Shift_Del DEL T T - novel 7316-124 BS_WCQW99V3 T T c.681del p.Phe227LeufsTer8 p.F227Lfs*8 ENST00000404459 6/9 102 88 7 43 42 0 LIPN,frameshift_variant,p.Phe227LeufsTer8,ENST00000404459,NM_001102469.1; - ENSG00000204020 ENST00000404459 Transcript frameshift_variant 677/1197 677/1197 226/398 V/X gTt/gt 1 1 LIPN HGNC HGNC:23452 protein_coding YES CCDS44456.1 ENSP00000383923 Q5VXI9 UPI000150AF6A NM_001102469.1 6/9 Gene3D:3.40.50.1820,Pfam_domain:PF00561,PIRSF_domain:PIRSF000862,hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF16,Superfamily_domains:SSF53474 HIGH 1 deletion 1 4 1 PASS TGTT . . 88770848 TAS2R19 . GRCh38 chr12 11022133 11022133 + Missense_Mutation SNP T T C rs796827624 7316-124 BS_WCQW99V3 T T c.439A>G p.Ile147Val p.I147V ENST00000390673 1/1 96 81 12 37 36 0 TAS2R19,missense_variant,p.Ile147Val,ENST00000390673,NM_176888.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000212124 ENST00000390673 Transcript missense_variant 488/1002 439/900 147/299 I/V Ata/Gta rs796827624 1 -1 TAS2R19 HGNC HGNC:19108 protein_coding YES CCDS8640.1 ENSP00000375091 P59542 UPI000000D7CF NM_176888.2 tolerated(1) benign(0.015) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF27,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15027 MODERATE SNV PASS ATC . . 11022133 EP400 . GRCh38 chr12 132062548 132062549 + In_Frame_Ins INS - - CAG novel 7316-124 BS_WCQW99V3 - - c.8223_8225dup p.Gln2748dup p.Q2748dup ENST00000389562 46/52 53 10 14 23 11 0 EP400,inframe_insertion,p.Gln2748dup,ENST00000389562,;EP400,inframe_insertion,p.Gln2748dup,ENST00000389561,NM_015409.4;EP400,upstream_gene_variant,,ENST00000330386,;EP400,upstream_gene_variant,,ENST00000611739,; CAG ENSG00000183495 ENST00000389562 Transcript inframe_insertion 8216-8217/12836 8181-8182/9372 2727-2728/3123 -/Q -/CAG 1 1 EP400 HGNC HGNC:11958 protein_coding YES CCDS31929.2 ENSP00000374213 Q96L91 UPI00004566BC 46/52 Gene3D:1.20.1000.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF599,Low_complexity_(Seg):seg MODERATE 1 insertion 1 44 PASS AAC . . 132062548 MAP1A . GRCh38 chr15 43521686 43521686 + Frame_Shift_Del DEL T T - novel 7316-124 BS_WCQW99V3 T T c.217del p.Trp73GlyfsTer37 p.W73Gfs*37 ENST00000300231 4/6 84 74 5 40 38 0 MAP1A,frameshift_variant,p.Trp311GlyfsTer37,ENST00000382031,;MAP1A,frameshift_variant,p.Trp73GlyfsTer37,ENST00000300231,NM_002373.5; - ENSG00000166963 ENST00000300231 Transcript frameshift_variant 663/10258 213/8412 71/2803 C/X tgT/tg 1 1 MAP1A HGNC HGNC:6835 protein_coding YES CCDS42031.1 ENSP00000300231 P78559 UPI000013E63C NM_002373.5 4/6 Gene3D:3.60.15.10,hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF6,Superfamily_domains:SSF56281 HIGH 1 deletion 5 4 PASS TGTT . . 43521685 MEIOB . GRCh38 chr16 1839379 1839379 + Frame_Shift_Del DEL T T - novel 7316-124 BS_WCQW99V3 T T c.1094del p.Asn365ThrfsTer15 p.N365Tfs*15 ENST00000325962 11/13 51 43 5 37 37 0 MEIOB,frameshift_variant,p.Asn158ThrfsTer15,ENST00000470044,;MEIOB,frameshift_variant,p.Asn365ThrfsTer15,ENST00000397344,NM_152764.2;MEIOB,frameshift_variant,p.Asn365ThrfsTer15,ENST00000325962,NM_001163560.2;FAHD1,3_prime_UTR_variant,,ENST00000382666,NM_001018104.2;FAHD1,3_prime_UTR_variant,,ENST00000382668,NM_001142398.1;FAHD1,downstream_gene_variant,,ENST00000615972,;AL031722.1,downstream_gene_variant,,ENST00000570247,;MEIOB,non_coding_transcript_exon_variant,,ENST00000490154,; - ENSG00000162039 ENST00000325962 Transcript frameshift_variant 1104/1694 1094/1416 365/471 N/X aAc/ac 1 -1 MEIOB HGNC HGNC:28569 protein_coding YES CCDS53983.1 ENSP00000314484 Q8N635 UPI000198C771 NM_001163560.2 11/13 hmmpanther:PTHR21166,hmmpanther:PTHR21166:SF2,Gene3D:2.40.50.140,Superfamily_domains:SSF50249 HIGH deletion 5 1 PASS AGTT . . 1839378 CES1 . GRCh38 chr16 55833022 55833022 + Missense_Mutation SNP A A C rs12149366 7316-124 BS_WCQW99V3 A A c.34T>G p.Ser12Ala p.S12A ENST00000360526 1/14 47 41 6 22 22 0 CES1,missense_variant,p.Ser12Ala,ENST00000422046,NM_001266.4;CES1,missense_variant,p.Ser12Ala,ENST00000360526,NM_001025195.1;CES1,missense_variant,p.Ser12Ala,ENST00000361503,NM_001025194.1;CES1,upstream_gene_variant,,ENST00000566555,;CES1,non_coding_transcript_exon_variant,,ENST00000563005,;CES1,non_coding_transcript_exon_variant,,ENST00000565403,;,regulatory_region_variant,,ENSR00000086237,; C ENSG00000198848 ENST00000360526 Transcript missense_variant 137/2006 34/1707 12/568 S/A Tct/Gct rs12149366,COSM4777317 1 -1 CES1 HGNC HGNC:1863 protein_coding YES CCDS32450.1 ENSP00000353720 P23141 UPI000054B390 NM_001025195.1 tolerated(1) benign(0) 1/14 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF361 0.0641 0.0507 0.0504 0.0804 0.0666 0.0726 0.008087 0.001906 0,1 27662362,20653675 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.006151 0.01384 0.003931 0.001982 0.01658 0.0005087 0.002965 0.007567 0.01596 55833022 KRTAP1-3 . GRCh38 chr17 41034721 41034721 + Missense_Mutation SNP C C G rs62624960 7316-124 BS_WCQW99V3 C C c.101G>C p.Cys34Ser p.C34S ENST00000344363 1/1 61 50 9 37 37 0 KRTAP1-3,missense_variant,p.Cys34Ser,ENST00000344363,NM_030966.1;KRTAP1-4,upstream_gene_variant,,ENST00000377747,NM_001257305.1;,regulatory_region_variant,,ENSR00000094178,; G ENSG00000221880 ENST00000344363 Transcript missense_variant 135/972 101/504 34/167 C/S tGc/tCc rs62624960,COSM4129995 1 -1 KRTAP1-3 HGNC HGNC:16771 protein_coding YES CCDS42323.1 ENSP00000344420 Q8IUG1 UPI000006DC17 NM_030966.1 deleterious(0.01) benign(0.005) 1/1 Pfam_domain:PF01500,hmmpanther:PTHR23262,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF128,hmmpanther:PTHR23262:SF128,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 0,1 PASS GCA . . 0.0008511 0.00286 0.0005212 0.001371 0.0004701 0.0009507 0.001338 0.0001663 41034721 KIR2DL3 . GRCh38 chr19 54744022 54744022 + Missense_Mutation SNP G G A rs771803423 7316-124 BS_WCQW99V3 G G c.598G>A p.Gly200Ser p.G200S ENST00000342376 4/8 75 65 10 56 55 0 KIR2DL3,missense_variant,p.Gly200Ser,ENST00000342376,NM_015868.2;AC245128.1,intron_variant,,ENST00000400864,; A ENSG00000243772 ENST00000342376 Transcript missense_variant 629/1590 598/1026 200/341 G/S Ggc/Agc rs771803423 1 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628 E3NZD8 UPI000012DB1C NM_015868.2 deleterious(0.01) possibly_damaging(0.78) 4/8 Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF124,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CGG . . 6.646e-05 0.0001177 0.0001218 54744022 RPS6KA6 . GRCh38 chrX 84107632 84107632 + Frame_Shift_Del DEL T T - novel 7316-124 BS_WCQW99V3 T T c.1102del p.Thr368HisfsTer48 p.T368Hfs*48 ENST00000620340 13/22 57 50 5 14 14 0 RPS6KA6,frameshift_variant,p.Thr368HisfsTer48,ENST00000620340,NM_001330512.1;RPS6KA6,frameshift_variant,p.Thr368HisfsTer48,ENST00000262752,NM_014496.4;RPS6KA6,upstream_gene_variant,,ENST00000495332,; - ENSG00000072133 ENST00000620340 Transcript frameshift_variant 1102/8169 1102/2238 368/745 T/X Aca/ca 1 -1 RPS6KA6 HGNC HGNC:10435 protein_coding YES CCDS83480.1 ENSP00000483896 Q9UK32 UPI000189A7FC NM_001330512.1 13/22 PROSITE_profiles:PS51285,cd05582,hmmpanther:PTHR24351:SF98,hmmpanther:PTHR24351,Pfam_domain:PF00433,PIRSF_domain:PIRSF000606,SMART_domains:SM00133,Superfamily_domains:SSF56112 HIGH 1 deletion 5 PASS TGTT . . 84107631 RBMXL1 . GRCh38 chr1 88983354 88983354 + Missense_Mutation SNP C C A rs200081893 7316-2648 BS_V733WCVK C C c.473G>T p.Gly158Val p.G158V ENST00000399794 3/3 81 69 10 34 34 0 RBMXL1,missense_variant,p.Gly158Val,ENST00000399794,NM_001162536.2;RBMXL1,missense_variant,p.Gly158Val,ENST00000321792,NM_019610.5;RBMXL1,missense_variant,p.Gly158Val,ENST00000413769,;KYAT3,intron_variant,,ENST00000260508,NM_001008661.2,NM_001349448.1;KYAT3,intron_variant,,ENST00000370486,;KYAT3,intron_variant,,ENST00000370491,NM_001008662.2,NM_001349447.1;KYAT3,intron_variant,,ENST00000446900,; A ENSG00000213516 ENST00000399794 Transcript missense_variant 1189/5084 473/1173 158/390 G/V gGg/gTg rs200081893,COSM3741422 1 -1 RBMXL1 HGNC HGNC:25073 protein_coding YES CCDS716.1 ENSP00000446099 Q96E39 UPI000006DA18 NM_001162536.2 deleterious(0.03) benign(0.025) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF4,hmmpanther:PTHR44345 0,1 MODERATE SNV 2 0,1 PASS CCC . . 8.305e-06 1.822e-05 88983354 SLC16A4 . GRCh38 chr1 110363804 110363805 + Frame_Shift_Ins INS - - A rs752790213 7316-2648 BS_V733WCVK - - c.1425dup p.Val476CysfsTer24 p.V476Cfs*24 ENST00000369779 9/9 79 66 6 39 37 0 SLC16A4,frameshift_variant,p.Val476CysfsTer24,ENST00000369779,NM_004696.2;SLC16A4,frameshift_variant,p.Val414CysfsTer24,ENST00000541986,NM_001319220.1,NM_001201547.1;SLC16A4,frameshift_variant,p.Val428CysfsTer24,ENST00000472422,NM_001201546.1;SLC16A4,frameshift_variant,p.Leu372PhefsTer14,ENST00000437429,NM_001201548.1;SLC16A4,frameshift_variant,p.Val308CysfsTer24,ENST00000369781,NM_001201549.1;LAMTOR5-AS1,intron_variant,,ENST00000626572,;SLC16A4,3_prime_UTR_variant,,ENST00000461647,;SLC16A4,3_prime_UTR_variant,,ENST00000528649,;SLC16A4,3_prime_UTR_variant,,ENST00000492412,; A ENSG00000168679 ENST00000369779 Transcript frameshift_variant 1675-1676/2632 1425-1426/1464 475-476/487 -/X -/T rs752790213,TMP_ESP_1_110906427_110906427 1 -1 SLC16A4 HGNC HGNC:10925 protein_coding YES CCDS823.1 ENSP00000358794 O15374 UPI000004EE9B NM_004696.2 9/9 Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF14,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix,cd06174 0.0004688 0.0002423 HIGH 1 insertion 1 PASS ACA . . 0.0005652 0.0006892 0.001031 0.0003527 0.001257 0.0002475 0.0004604 0.001354 0.0002388 110363804 FIGN . GRCh38 chr2 163610809 163610810 + Frame_Shift_Ins INS - - GG rs1296999043 7316-2648 BS_V733WCVK - - c.1022_1023insCC p.Gln341HisfsTer35 p.Q341Hfs*35 ENST00000333129 3/3 53 41 7 43 40 0 FIGN,frameshift_variant,p.Gln341HisfsTer35,ENST00000333129,NM_018086.3;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,; GG ENSG00000182263 ENST00000333129 Transcript frameshift_variant 1337-1338/9536 1022-1023/2280 341/759 Q/HX cag/caCCg rs1296999043 1 -1 FIGN HGNC HGNC:13285 protein_coding YES CCDS2221.2 ENSP00000333836 Q5HY92 UPI000022BD13 NM_018086.3 3/3 hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14,mobidb-lite HIGH 1 insertion 1 PASS TCT . . 163610809 FIGN . GRCh38 chr2 163610828 163610829 + Frame_Shift_Del DEL TT TT - rs1464392854 7316-2648 BS_V733WCVK TT TT c.1003_1004del p.Asn335LeufsTer31 p.N335Lfs*31 ENST00000333129 3/3 56 46 7 38 36 0 FIGN,frameshift_variant,p.Asn335LeufsTer31,ENST00000333129,NM_018086.3;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,; - ENSG00000182263 ENST00000333129 Transcript frameshift_variant 1318-1319/9536 1003-1004/2280 335/759 N/X AAt/t rs1464392854 1 -1 FIGN HGNC HGNC:13285 protein_coding YES CCDS2221.2 ENSP00000333836 Q5HY92 UPI000022BD13 NM_018086.3 3/3 hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14 HIGH 1 deletion 1 PASS AATTT . . 163610827 MUC4 . GRCh38 chr3 195788419 195788419 + Missense_Mutation SNP C C G rs78535324 7316-2648 BS_V733WCVK C C c.3161G>C p.Ser1054Thr p.S1054T ENST00000463781 2/25 38 25 9 29 26 1 MUC4,missense_variant,p.Ser1054Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser1054Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser1054Thr,ENST00000478156,;MUC4,missense_variant,p.Ser1054Thr,ENST00000466475,;MUC4,missense_variant,p.Ser1054Thr,ENST00000477756,;MUC4,missense_variant,p.Ser1054Thr,ENST00000477086,;MUC4,missense_variant,p.Ser1054Thr,ENST00000480843,;MUC4,missense_variant,p.Ser1054Thr,ENST00000462323,;MUC4,missense_variant,p.Ser1054Thr,ENST00000470451,;MUC4,missense_variant,p.Ser1054Thr,ENST00000479406,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 3621/17110 3161/16239 1054/5412 S/T aGc/aCc rs78535324,COSM227729 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.48) benign(0.003) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCT . . 0.02546 0.007581 0.03984 0.03226 0.1366 0.008478 0.01819 0.01801 0.03179 195788419 DDX60L . GRCh38 chr4 168391651 168391651 + Splice_Region SNP A A G rs79208472 7316-2648 BS_V733WCVK A A c.3811-7T>C ENST00000260184 107 83 8 33 24 0 DDX60L,splice_region_variant,,ENST00000260184,NM_001012967.2;DDX60L,intron_variant,,ENST00000505890,NM_001291510.1;DDX60L,intron_variant,,ENST00000511577,NM_001345927.1;DDX60L,intron_variant,,ENST00000514580,;DDX60L,downstream_gene_variant,,ENST00000505863,;DDX60L,downstream_gene_variant,,ENST00000503190,; G ENSG00000181381 ENST00000260184 Transcript splice_region_variant,intron_variant rs79208472,COSM4330791 1 -1 DDX60L HGNC HGNC:26429 protein_coding YES CCDS47161.1 ENSP00000260184 Q5H9U9 UPI0003EAE873 NM_001012967.2 28/37 0.0831 0.0726 0.1023 0.0585 0.0934 0.0982 0,1 LOW 1 SNV 5 0,1 PASS AAA . . 0.1245 0.1455 0.1219 0.1289 0.1243 0.1014 0.1273 0.1313 0.1244 168391651 C7orf26 . GRCh38 chr7 6608088 6608088 + Missense_Mutation SNP A A C rs1316167514 7316-2648 BS_V733WCVK A A c.1277A>C p.His426Pro p.H426P ENST00000344417 6/6 51 32 11 26 24 1 C7orf26,missense_variant,p.His426Pro,ENST00000344417,NM_024067.3;C7orf26,missense_variant,p.His329Pro,ENST00000359073,NM_001303039.1;C7orf26,downstream_gene_variant,,ENST00000445375,;C7orf26,non_coding_transcript_exon_variant,,ENST00000472693,;C7orf26,downstream_gene_variant,,ENST00000440409,; C ENSG00000146576 ENST00000344417 Transcript missense_variant 1544/2182 1277/1350 426/449 H/P cAc/cCc rs1316167514 1 1 C7orf26 HGNC HGNC:21702 protein_coding YES CCDS5353.1 ENSP00000340220 Q96N11 UPI000003ED42 NM_024067.3 tolerated_low_confidence(0.41) benign(0.003) 6/6 Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CAC . . 0.0009056 0.0004398 0.001447 0.0009029 0.000554 0.004528 0.000539 0.002051 0.0001996 6608088 MUC5AC . GRCh38 chr11 1186842 1186842 + Missense_Mutation SNP A A C rs1417504920 7316-2648 BS_V733WCVK A A c.8697A>C p.Arg2899Ser p.R2899S ENST00000621226 31/49 81 59 13 32 28 0 MUC5AC,missense_variant,p.Arg2899Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 8744/17448 8697/16965 2899/5654 R/S agA/agC rs1417504920 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated_low_confidence(0.74) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GAA . . 1186842 BEST1 . GRCh38 chr11 61955099 61955099 + Splice_Region SNP A A C rs764161130 7316-2648 BS_V733WCVK A A c.-28-8A>C ENST00000449131 81 68 6 38 37 1 BEST1,splice_region_variant,,ENST00000378043,NM_001300787.1,NM_001300786.1,NM_004183.3;BEST1,splice_region_variant,,ENST00000449131,NM_001139443.1;BEST1,splice_region_variant,,ENST00000534553,;BEST1,upstream_gene_variant,,ENST00000526988,;FTH1,downstream_gene_variant,,ENST00000529191,;FTH1,downstream_gene_variant,,ENST00000529631,;FTH1,downstream_gene_variant,,ENST00000530019,;BEST1,splice_region_variant,,ENST00000524877,;BEST1,splice_region_variant,,ENST00000524926,;BEST1,splice_region_variant,,ENST00000529265,;BEST1,splice_region_variant,,ENST00000533521,; C ENSG00000167995 ENST00000449131 Transcript splice_region_variant,intron_variant rs764161130 1 1 BEST1 HGNC HGNC:12703 protein_coding YES CCDS44623.1 ENSP00000399709 O76090 UPI0000232791 NM_001139443.1 1/8 LOW 1 SNV 1 1 PASS CAC . . 0.06572 0.009662 0.1061 0.1381 0.02101 0.04842 0.0727 0.09462 0.03883 61955099 FAM86C1 . GRCh38 chr11 71787555 71787555 + Missense_Mutation SNP G G T rs12283300 7316-2648 BS_V733WCVK G G c.19G>T p.Ala7Ser p.A7S ENST00000359244 1/5 105 27 67 35 26 4 FAM86C1,missense_variant,p.Ala7Ser,ENST00000359244,NM_018172.2;FAM86C1,missense_variant,p.Ala7Ser,ENST00000346333,NM_152563.2;FAM86C1,missense_variant,p.Ala7Ser,ENST00000426628,NM_001099653.1;FAM86C1,missense_variant,p.Ala7Ser,ENST00000510443,;FAM86C1,missense_variant,p.Ala7Ser,ENST00000526393,;FAM86C1,missense_variant,p.Ala7Ser,ENST00000528685,;,regulatory_region_variant,,ENSR00000041611,; T ENSG00000158483 ENST00000359244 Transcript missense_variant 42/2110 19/498 7/165 A/S Gcg/Tcg rs12283300,COSM3721742,COSM1561601,COSM1561600 1 1 FAM86C1 HGNC HGNC:25561 protein_coding YES CCDS41686.1 ENSP00000352182 Q9NVL1 UPI000013DF79 NM_018172.2 deleterious(0.03) benign(0.053) 1/5 Pfam_domain:PF14904,hmmpanther:PTHR14614,hmmpanther:PTHR14614:SF96 0.4479 0.3328 0.3458 0.3423 0.5646 0.6646 0,1,1,1 MODERATE 1 SNV 2 0,1,1,1 PASS CGC . . 0.4614 0.2609 0.2937 0.6499 0.239 0.5673 0.5035 0.5038 0.6467 71787555 DDX10 . GRCh38 chr11 108917908 108917910 + In_Frame_Del DEL TGA TGA - rs756833840 7316-2648 BS_V733WCVK TGA TGA c.2363_2365del p.Asp788del p.D788del ENST00000322536 17/18 90 77 6 20 19 0 DDX10,inframe_deletion,p.Asp788del,ENST00000526794,;DDX10,inframe_deletion,p.Asp788del,ENST00000322536,NM_004398.3;DDX10,non_coding_transcript_exon_variant,,ENST00000524979,;DDX10,non_coding_transcript_exon_variant,,ENST00000530116,; - ENSG00000178105 ENST00000322536 Transcript inframe_deletion 2469-2471/3264 2340-2342/2628 780-781/875 SD/S agTGAt/agt rs756833840,TMP_ESP_11_108788635_108788637,COSM1721800 1 1 DDX10 HGNC HGNC:2735 protein_coding YES CCDS8342.1 ENSP00000314348 Q13206 UPI0000140E62 NM_004398.3 17/18 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF54,Gene3D:3.40.50.300 0.01806 0.01878 0,0,1 MODERATE 1 deletion 1 23 0,0,1 1 PASS AGTGAT . . 0.0006143 0.0003424 0.0004176 0.0001086 0.00043 0.0001441 0.000663 0.0005859 0.001407 108917907 FAM186A . GRCh38 chr12 50353377 50353377 + Missense_Mutation SNP T T G rs533953825 7316-2648 BS_V733WCVK T T c.3455A>C p.Asp1152Ala p.D1152A ENST00000327337 4/8 85 58 16 19 18 0 FAM186A,missense_variant,p.Asp1152Ala,ENST00000543111,;FAM186A,missense_variant,p.Asp1152Ala,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 3455/7127 3455/7056 1152/2351 D/A gAc/gCc rs533953825,COSM6287071 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GTC . . 1.655e-05 5.83e-05 2.088e-05 50353377 AGAP2 . GRCh38 chr12 57728372 57728372 + Missense_Mutation SNP G G A rs963412547 7316-2648 BS_V733WCVK G G c.2563C>T p.Arg855Cys p.R855C ENST00000547588 14/19 88 55 30 38 38 0 AGAP2,missense_variant,p.Arg855Cys,ENST00000547588,NM_001122772.2;AGAP2,intron_variant,,ENST00000257897,NM_014770.3;AGAP2,intron_variant,,ENST00000328568,;AGAP2,downstream_gene_variant,,ENST00000549129,;AGAP2-AS1,downstream_gene_variant,,ENST00000542466,; A ENSG00000135439 ENST00000547588 Transcript missense_variant 2563/3579 2563/3579 855/1192 R/C Cgc/Tgc rs963412547 1 -1 AGAP2 HGNC HGNC:16921 protein_coding YES CCDS44932.1 ENSP00000449241 F8VVT9 UPI00001AF80C NM_001122772.2 deleterious(0) probably_damaging(0.997) 14/19 PROSITE_profiles:PS50003,cd01250,hmmpanther:PTHR23180:SF256,hmmpanther:PTHR23180,Gene3D:2.30.29.30,SMART_domains:SM00233 MODERATE 1 SNV 1 PASS CGC . . 57728372 CLDN10-AS1 . GRCh38 chr13 95497127 95497128 + Splice_Region INS - - A rs138179094 7316-2648 BS_V733WCVK - - n.310-3dup ENST00000416909 91 75 10 34 31 0 CLDN10,intron_variant,,ENST00000376873,NM_001160100.1,NM_182848.3;CLDN10-AS1,splice_region_variant,,ENST00000416909,; A ENSG00000223392 ENST00000416909 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs138179094 1 -1 CLDN10-AS1 HGNC HGNC:39907 antisense YES 2/3 0.2480 0.2201 0.255 0.2371 0.2545 0.2853 LOW 1 insertion 1 PASS CTA . . 95497127 KDM6B . GRCh38 chr17 7847214 7847214 + Missense_Mutation SNP G G C rs775753332 7316-2648 BS_V733WCVK G G c.1019G>C p.Arg340Pro p.R340P ENST00000254846 10/22 44 32 6 42 38 1 KDM6B,missense_variant,p.Arg340Pro,ENST00000254846,NM_001080424.1;KDM6B,missense_variant,p.Arg340Pro,ENST00000448097,;KDM6B,missense_variant,p.Arg274Pro,ENST00000570632,;KDM6B,downstream_gene_variant,,ENST00000571047,;KDM6B,downstream_gene_variant,,ENST00000575521,; C ENSG00000132510 ENST00000254846 Transcript missense_variant 1408/6713 1019/5049 340/1682 R/P cGc/cCc rs775753332 1 1 KDM6B HGNC HGNC:29012 protein_coding YES CCDS32552.1 ENSP00000254846 O15054 UPI00006C175B NM_001080424.1 tolerated_low_confidence(0.12) possibly_damaging(0.808) 10/22 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14017:SF5,hmmpanther:PTHR14017 MODERATE 1 SNV 1 1 PASS CGC . . 0.007808 0.002563 0.01757 0.01866 0.004061 0.01411 0.00522 0.01092 0.007613 7847214 LILRA2 . GRCh38 chr19 54574871 54574871 + Missense_Mutation SNP C C T rs149722559 7316-2648 BS_V733WCVK C C c.493C>T p.Arg165Cys p.R165C ENST00000251377 5/9 45 33 10 37 35 1 LILRA2,missense_variant,p.Arg165Cys,ENST00000251376,NM_001290271.1,NM_006866.3;LILRA2,missense_variant,p.Arg165Cys,ENST00000251377,;LILRA2,missense_variant,p.Arg165Cys,ENST00000391738,NM_001130917.2;LILRA2,missense_variant,p.Arg165Cys,ENST00000439534,;LILRA2,missense_variant,p.Arg153Cys,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000111531,; T ENSG00000239998 ENST00000251377 Transcript missense_variant 626/1799 493/1452 165/483 R/C Cgc/Tgc rs149722559,COSM4410314,COSM4410313 1 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000251377 Q8N149 UPI00034F238E tolerated(0.18) benign(0.003) 5/9 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00409,Superfamily_domains:SSF48726 0.0078 0.0008 0.0014 0.001 0.005 0.0317 0.001135 0.008605 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ACG . . 0.004528 0.001307 0.001846 0.006193 5.798e-05 0.003812 0.007367 0.002917 0.001527 54574871 LILRB1 . GRCh38 chr19 54631503 54631503 + Missense_Mutation SNP A A C rs754762871 7316-2648 BS_V733WCVK A A c.74A>C p.His25Pro p.H25P ENST00000324602 4/15 44 32 9 31 30 0 LILRB1,missense_variant,p.His25Pro,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.His25Pro,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.His25Pro,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.His25Pro,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.His61Pro,ENST00000427581,;LILRB1,missense_variant,p.His25Pro,ENST00000396315,;LILRB1,missense_variant,p.His25Pro,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,missense_variant,p.His25Pro,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00000111540,; C ENSG00000104972 ENST00000324602 Transcript missense_variant 239/2774 74/1959 25/652 H/P cAc/cCc rs754762871 1 1 LILRB1 HGNC HGNC:6605 protein_coding YES CCDS42614.1 ENSP00000315997 A0A087WSV6 UPI00034F23AA NM_001081637.2 tolerated(0.28) benign(0) 4/15 Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89 MODERATE SNV 5 PASS CAC . . 1.681e-05 3.082e-05 2.777e-05 54631503 IL1RAPL1 . GRCh38 chrX 29955711 29955711 + Missense_Mutation SNP G A A rs772187082 7316-2648 BS_V733WCVK G G c.1982G>A p.Arg661Gln p.R661Q ENST00000378993 11/11 36 7 28 16 16 0 IL1RAPL1,missense_variant,p.Arg661Gln,ENST00000378993,NM_014271.3;IL1RAPL1,missense_variant,p.Arg402Gln,ENST00000302196,; A ENSG00000169306 ENST00000378993 Transcript missense_variant 2655/3667 1982/2091 661/696 R/Q cGg/cAg rs772187082 1 1 IL1RAPL1 HGNC HGNC:5996 protein_coding YES CCDS14218.1 ENSP00000368278 Q9NZN1 X5DNQ7 UPI000006D1BF NM_014271.3 tolerated_low_confidence(0.38) benign(0.022) 11/11 hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF22,mobidb-lite MODERATE 1 SNV 1 1 PASS CGG . . 1.125e-05 8.213e-05 1.258e-05 29955711 MT-CO3 . GRCh38 chrM 9837 9837 + Missense_Mutation SNP G G A novel 7316-2648 BS_V733WCVK G G c.631G>A p.Gly211Ser p.G211S ENST00000362079 1/1 21337 17501 3191 2306 2275 0 MT-CO3,missense_variant,p.Gly211Ser,ENST00000362079,;MT-ND3,upstream_gene_variant,,ENST00000361227,;MT-ND4L,upstream_gene_variant,,ENST00000361335,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,upstream_gene_variant,,ENST00000387429,;MT-TR,upstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,; A ENSG00000198938 ENST00000362079 Transcript missense_variant 631/784 631/784 211/261 G/S Ggc/Agc 1 1 MT-CO3 HGNC HGNC:7422 protein_coding YES ENSP00000354982 P00414 Q7GIM7 UPI0000000369 deleterious_low_confidence(0) probably_damaging(0.999) 1/1 Gene3D:1.20.120.80,Pfam_domain:PF00510,PROSITE_profiles:PS50253,hmmpanther:PTHR11403,hmmpanther:PTHR11403:SF7,Superfamily_domains:SSF81452,Transmembrane_helices:TMhelix,cd01665 MODERATE 1 SNV 1 PASS TGG . . 9837 ZNF436 . GRCh38 chr1 23362463 23362463 + Missense_Mutation SNP T T C novel 7316-387 BS_6458RHRT T T c.919A>G p.Lys307Glu p.K307E ENST00000314011 4/4 95 85 7 38 37 0 ZNF436,missense_variant,p.Lys307Glu,ENST00000314011,NM_001077195.1;ZNF436,missense_variant,p.Lys307Glu,ENST00000374608,NM_030634.2; C ENSG00000125945 ENST00000314011 Transcript missense_variant 1056/4071 919/1413 307/470 K/E Aag/Gag 1 -1 ZNF436 HGNC HGNC:20814 protein_coding YES CCDS233.1 ENSP00000313582 Q9C0F3 A0A024RAF3 UPI0000001669 NM_001077195.1 tolerated(0.63) benign(0.015) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR45201,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTG . . 23362463 ZNF436 . GRCh38 chr1 23362471 23362471 + Missense_Mutation SNP C C T rs1208726123 7316-387 BS_6458RHRT C C c.911G>A p.Arg304Lys p.R304K ENST00000314011 4/4 97 88 7 37 35 1 ZNF436,missense_variant,p.Arg304Lys,ENST00000314011,NM_001077195.1;ZNF436,missense_variant,p.Arg304Lys,ENST00000374608,NM_030634.2; T ENSG00000125945 ENST00000314011 Transcript missense_variant 1048/4071 911/1413 304/470 R/K aGg/aAg rs1208726123 1 -1 ZNF436 HGNC HGNC:20814 protein_coding YES CCDS233.1 ENSP00000313582 Q9C0F3 A0A024RAF3 UPI0000001669 NM_001077195.1 tolerated(1) benign(0.033) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR45201,Gene3D:3.30.160.60,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CCT . . 23362471 KLF18 . GRCh38 chr1 44140247 44140247 + Missense_Mutation SNP G G T novel 7316-387 BS_6458RHRT G G c.1385C>A p.Thr462Lys p.T462K ENST00000634670 1/2 47 33 7 28 28 0 KLF18,missense_variant,p.Thr462Lys,ENST00000634670,NM_001358438.1; T ENSG00000283039 ENST00000634670 Transcript missense_variant 1385/3159 1385/3159 462/1052 T/K aCg/aAg 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated_low_confidence(0.13) unknown(0) 1/2 hmmpanther:PTHR21533,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21,hmmpanther:PTHR21533:SF21 MODERATE 1 SNV 5 PASS CGT . . 44140247 F5 . GRCh38 chr1 169541008 169541008 + Missense_Mutation SNP G G A rs200676405 7316-387 BS_6458RHRT G G c.4082C>T p.Pro1361Leu p.P1361L ENST00000367797 13/25 67 52 6 39 39 0 F5,missense_variant,p.Pro1366Leu,ENST00000367796,;F5,missense_variant,p.Pro1361Leu,ENST00000367797,NM_000130.4; A ENSG00000198734 ENST00000367797 Transcript missense_variant 4284/7024 4082/6675 1361/2224 P/L cCc/cTc rs200676405,COSM3802772 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(0.89) benign(0) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 1 PASS GGG . . 8.336e-06 6.115e-05 9.064e-06 169541008 NR5A2 . GRCh38 chr1 200048175 200048175 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.467T>G p.Val156Gly p.V156G ENST00000367362 5/8 72 58 9 31 31 0 NR5A2,missense_variant,p.Val156Gly,ENST00000367362,NM_205860.2;NR5A2,missense_variant,p.Val84Gly,ENST00000544748,NM_001276464.1;NR5A2,missense_variant,p.Val110Gly,ENST00000236914,NM_003822.4;NR5A2,missense_variant,p.Val77Gly,ENST00000367357,;NR5A2,downstream_gene_variant,,ENST00000474307,;,regulatory_region_variant,,ENSR00000017893,; G ENSG00000116833 ENST00000367362 Transcript missense_variant 713/5086 467/1626 156/541 V/G gTa/gGa 1 1 NR5A2 HGNC HGNC:7984 protein_coding YES CCDS1401.1 ENSP00000356331 O00482 UPI0000130482 NM_205860.2 deleterious(0) probably_damaging(1) 5/8 Gene3D:1.10.565.10,PIRSF_domain:PIRSF002530,Prints_domain:PR00398,PROSITE_profiles:PS51030,hmmpanther:PTHR24086,hmmpanther:PTHR24086:SF18,Superfamily_domains:SSF48508,Superfamily_domains:SSF57716,cd07167 MODERATE 1 SNV 1 PASS GTA . . 200048175 CCSAP . GRCh38 chr1 229342184 229342184 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.282A>C p.Glu94Asp p.E94D ENST00000284617 2/4 89 78 11 25 25 0 CCSAP,missense_variant,p.Glu94Asp,ENST00000284617,NM_145257.4;CCSAP,missense_variant,p.Glu94Asp,ENST00000366687,;CCSAP,upstream_gene_variant,,ENST00000366686,;CCSAP,non_coding_transcript_exon_variant,,ENST00000483092,;,regulatory_region_variant,,ENSR00000021471,; G ENSG00000154429 ENST00000284617 Transcript missense_variant 360/5121 282/813 94/270 E/D gaA/gaC 1 -1 CCSAP HGNC HGNC:29578 protein_coding YES CCDS1577.1 ENSP00000284617 Q6IQ19 UPI0000071365 NM_145257.4 tolerated(0.46) benign(0.003) 2/4 Pfam_domain:PF15748,hmmpanther:PTHR31022,hmmpanther:PTHR31022:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 229342184 IRF2BP2 . GRCh38 chr1 234609251 234609251 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.244A>C p.Lys82Gln p.K82Q ENST00000366609 1/2 79 64 12 41 40 0 IRF2BP2,missense_variant,p.Lys82Gln,ENST00000366609,NM_182972.2;IRF2BP2,missense_variant,p.Lys82Gln,ENST00000366610,NM_001077397.1;AL160408.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;,regulatory_region_variant,,ENSR00000257385,; G ENSG00000168264 ENST00000366609 Transcript missense_variant 275/4663 244/1764 82/587 K/Q Aag/Cag 1 -1 IRF2BP2 HGNC HGNC:21729 protein_coding YES CCDS1602.1 ENSP00000355568 Q7Z5L9 UPI000004FA32 NM_182972.2 tolerated(0.59) benign(0.015) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18 MODERATE 1 SNV 1 1 PASS TTG . . 234609251 TGOLN2 . GRCh38 chr2 85327493 85327493 + Missense_Mutation SNP G G C rs1238981161 7316-387 BS_6458RHRT G G c.239C>G p.Thr80Ser p.T80S ENST00000409232 2/4 93 81 8 34 34 0 TGOLN2,missense_variant,p.Thr80Ser,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Thr80Ser,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000409015,;TGOLN2,missense_variant,p.Thr80Ser,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; C ENSG00000152291 ENST00000409232 Transcript missense_variant 301/2235 239/1362 80/453 T/S aCc/aGc rs1238981161,COSM6288195,COSM1722795 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(1) benign(0) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGT . . 85327493 HDAC4 . GRCh38 chr2 239082144 239082144 + Nonsense_Mutation SNP G G C novel 7316-387 BS_6458RHRT G G c.2595C>G p.Tyr865Ter p.Y865* ENST00000345617 21/27 75 64 8 26 26 0 HDAC4,stop_gained,p.Tyr753Ter,ENST00000543185,;HDAC4,stop_gained,p.Tyr865Ter,ENST00000345617,NM_006037.3;MIR4441,downstream_gene_variant,,ENST00000582623,;HDAC4,upstream_gene_variant,,ENST00000494800,;HDAC4,non_coding_transcript_exon_variant,,ENST00000487617,; C ENSG00000068024 ENST00000345617 Transcript stop_gained 3387/8976 2595/3255 865/1084 Y/* taC/taG 1 -1 HDAC4 HGNC HGNC:14063 protein_coding YES CCDS2529.1 ENSP00000264606 P56524 UPI000013D541 NM_006037.3 21/27 cd10006,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF100,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768 HIGH 1 SNV 1 1 PASS CGT . . 239082144 SNED1 . GRCh38 chr2 241052453 241052453 + Missense_Mutation SNP C C A 7316-387 BS_6458RHRT C C c.2068C>A p.Arg690Ser p.R690S ENST00000310397 15/32 103 89 6 38 37 0 SNED1,missense_variant,p.Arg690Ser,ENST00000310397,NM_001080437.1;SNED1,missense_variant,p.Arg690Ser,ENST00000405547,;SNED1,missense_variant,p.Arg690Ser,ENST00000401884,;SNED1,downstream_gene_variant,,ENST00000401644,;SNED1,downstream_gene_variant,,ENST00000431690,;AC005237.1,intron_variant,,ENST00000458377,;SNED1,non_coding_transcript_exon_variant,,ENST00000469006,;SNED1,downstream_gene_variant,,ENST00000483962,; A ENSG00000162804 ENST00000310397 Transcript missense_variant 2068/8174 2068/4242 690/1413 R/S Cgc/Agc COSM6205848,COSM6205847,COSM6205846 1 1 SNED1 HGNC HGNC:24696 protein_coding YES CCDS46562.1 ENSP00000308893 Q8TER0 UPI0000DD7AB0 NM_001080437.1 tolerated(0.12) benign(0.028) 15/32 Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR44772,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196,cd00054 1,1,1 MODERATE SNV 5 1,1,1 PASS ACG . . 241052453 CTNNB1 . GRCh38 chr3 41224607 41224607 + Missense_Mutation SNP A A G rs121913396 7316-387 BS_6458RHRT A A c.95A>G p.Asp32Gly p.D32G ENST00000645320 3/15 82 40 42 25 25 0 CTNNB1,missense_variant,p.Asp32Gly,ENST00000645320,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Gly,ENST00000433400,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000644524,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000644678,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000642986,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000645900,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000643297,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000643541,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Asp32Gly,ENST00000643031,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000646381,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000642836,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000645493,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000645210,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000642992,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000645276,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000644867,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000644873,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000642886,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000643977,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000647264,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000646174,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000642315,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000643992,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000647390,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000645982,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000644138,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000642248,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000646116,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000646725,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000642426,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000646369,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000647413,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; G ENSG00000168036 ENST00000645320 Transcript missense_variant 1938/4735 95/2346 32/781 D/G gAc/gGc rs121913396,COSM5691,COSM5690,COSM5681 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0.01) probably_damaging(0.984) 3/15 hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 likely_pathogenic,pathogenic 0,1,1,1 10192393 MODERATE 1 SNV 1,1,1,1 1 PASS GAC . . 41224607 MUC4 . GRCh38 chr3 195784025 195784025 + Missense_Mutation SNP G G A rs747010184 7316-387 BS_6458RHRT G G c.7555C>T p.Pro2519Ser p.P2519S ENST00000463781 2/25 72 47 10 48 41 1 MUC4,missense_variant,p.Pro2519Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2519Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2519Ser,ENST00000478156,;MUC4,missense_variant,p.Pro2519Ser,ENST00000466475,;MUC4,missense_variant,p.Pro2519Ser,ENST00000477756,;MUC4,missense_variant,p.Pro2519Ser,ENST00000477086,;MUC4,missense_variant,p.Pro2519Ser,ENST00000480843,;MUC4,missense_variant,p.Pro2519Ser,ENST00000462323,;MUC4,missense_variant,p.Pro2519Ser,ENST00000470451,;MUC4,missense_variant,p.Pro2519Ser,ENST00000479406,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 8015/17110 7555/16239 2519/5412 P/S Ccc/Tcc rs747010184,COSM2945417 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.84) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGA . . 6.895e-05 0.000185 0.0001196 0.000533 4.383e-05 5.42e-05 195784025 ZNF721 . GRCh38 chr4 442385 442385 + Missense_Mutation SNP T T A 7316-387 BS_6458RHRT T T c.2082A>T p.Glu694Asp p.E694D ENST00000511833 3/3 67 52 8 46 44 0 ZNF721,missense_variant,p.Glu682Asp,ENST00000338977,;ZNF721,missense_variant,p.Glu694Asp,ENST00000511833,NM_133474.3;ZNF721,intron_variant,,ENST00000506646,;ZNF721,downstream_gene_variant,,ENST00000505900,;AC092574.2,intron_variant,,ENST00000631198,;ABCA11P,intron_variant,,ENST00000451020,;ZNF721,intron_variant,,ENST00000507078,;ABCA11P,intron_variant,,ENST00000507854,;ABCA11P,intron_variant,,ENST00000514396,;ZNF721,intron_variant,,ENST00000515578,; A ENSG00000182903 ENST00000511833 Transcript missense_variant 2276/2966 2082/2772 694/923 E/D gaA/gaT COSM1294141,COSM1294140 1 -1 ZNF721 HGNC HGNC:29425 protein_coding YES CCDS46991.1 ENSP00000428878 Q8TF20 UPI0000E9B4A9 NM_133474.3 deleterious(0.04) benign(0.029) 3/3 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF60,hmmpanther:PTHR24376:SF60,Superfamily_domains:SSF57667 1,1 MODERATE SNV 4 1,1 PASS TTT . . 442385 NSUN2 . GRCh38 chr5 6607251 6607251 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.1457A>C p.His486Pro p.H486P ENST00000264670 13/19 81 69 11 44 43 1 NSUN2,missense_variant,p.His486Pro,ENST00000264670,NM_017755.5;NSUN2,missense_variant,p.His451Pro,ENST00000506139,NM_001193455.1;NSUN2,missense_variant,p.His3Pro,ENST00000514127,;NSUN2,3_prime_UTR_variant,,ENST00000504374,;NSUN2,non_coding_transcript_exon_variant,,ENST00000505892,;NSUN2,upstream_gene_variant,,ENST00000502932,;NSUN2,upstream_gene_variant,,ENST00000507888,;NSUN2,upstream_gene_variant,,ENST00000513888,; G ENSG00000037474 ENST00000264670 Transcript missense_variant 1769/3303 1457/2304 486/767 H/P cAt/cCt 1 -1 NSUN2 HGNC HGNC:25994 protein_coding YES CCDS3869.1 ENSP00000264670 Q08J23 UPI000020BF2B NM_017755.5 tolerated(0.22) benign(0) 13/19 hmmpanther:PTHR22808:SF11,hmmpanther:PTHR22808 MODERATE 1 SNV 1 1 PASS ATG . . 6607251 BDP1 . GRCh38 chr5 71510013 71510013 + Missense_Mutation SNP C C T rs753868775 7316-387 BS_6458RHRT C C c.2921C>T p.Thr974Ile p.T974I ENST00000358731 17/39 78 64 8 34 33 0 BDP1,missense_variant,p.Thr974Ile,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,; T ENSG00000145734 ENST00000358731 Transcript missense_variant 3184/11073 2921/7875 974/2624 T/I aCt/aTt rs753868775 1 1 BDP1 HGNC HGNC:13652 protein_coding YES CCDS43328.1 ENSP00000351575 A6H8Y1 UPI000020CA90 NM_018429.2 tolerated(0.8) benign(0) 17/39 mobidb-lite,hmmpanther:PTHR22929 MODERATE 1 SNV 1 1 PASS ACT . . 4.092e-06 9.039e-06 71510013 ADAMTS2 . GRCh38 chr5 179125066 179125066 + Missense_Mutation SNP G G T 7316-387 BS_6458RHRT G G c.2865C>A p.His955Gln p.H955Q ENST00000251582 19/22 81 69 7 26 24 0 ADAMTS2,missense_variant,p.His955Gln,ENST00000251582,NM_014244.4;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;ADAMTS2,upstream_gene_variant,,ENST00000523450,; T ENSG00000087116 ENST00000251582 Transcript missense_variant 2967/6754 2865/3636 955/1211 H/Q caC/caA COSM1436474 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 tolerated(0.08) probably_damaging(0.992) 19/22 Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,SMART_domains:SM00209,Superfamily_domains:SSF82895 1 MODERATE 1 SNV 1 1 1 PASS CGT . . 179125066 MUC17 . GRCh38 chr7 101041651 101041651 + Missense_Mutation SNP T T A novel 7316-387 BS_6458RHRT T T c.10235T>A p.Val3412Asp p.V3412D ENST00000306151 3/13 86 60 6 45 42 0 MUC17,missense_variant,p.Val3412Asp,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Val3412Asp,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 10299/14247 10235/13482 3412/4493 V/D gTc/gAc 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.01) probably_damaging(0.988) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTC . . 101041651 MUC17 . GRCh38 chr7 101041666 101041666 + Missense_Mutation SNP A A G rs879151573 7316-387 BS_6458RHRT A A c.10250A>G p.Asn3417Ser p.N3417S ENST00000306151 3/13 84 63 8 47 45 0 MUC17,missense_variant,p.Asn3417Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn3417Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 10314/14247 10250/13482 3417/4493 N/S aAc/aGc rs879151573,COSM6292815 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.063) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 4.075e-06 3.267e-05 101041666 KBTBD11 . GRCh38 chr8 2002327 2002327 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.1135T>G p.Ser379Ala p.S379A ENST00000320248 2/2 69 59 7 25 25 0 KBTBD11,missense_variant,p.Ser379Ala,ENST00000320248,NM_014867.2;,regulatory_region_variant,,ENSR00000220494,; G ENSG00000176595 ENST00000320248 Transcript missense_variant 2101/6710 1135/1872 379/623 S/A Tcc/Gcc 1 1 KBTBD11 HGNC HGNC:29104 protein_coding YES CCDS34795.1 ENSP00000321544 O94819 UPI0000139C1D NM_014867.2 deleterious(0) possibly_damaging(0.739) 2/2 Gene3D:2.120.10.80,Pfam_domain:PF01344,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF59,SMART_domains:SM00612,Superfamily_domains:SSF117281 MODERATE 1 SNV 1 PASS GTC . . 2002327 RP1L1 . GRCh38 chr8 10607512 10607512 + Missense_Mutation SNP T T A 7316-387 BS_6458RHRT T T c.6586A>T p.Ile2196Leu p.I2196L ENST00000382483 4/4 71 44 8 39 34 0 RP1L1,missense_variant,p.Ile2196Leu,ENST00000382483,NM_178857.5; A ENSG00000183638 ENST00000382483 Transcript missense_variant 6810/7973 6586/7203 2196/2400 I/L Ata/Tta COSM3269859 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated(0.76) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 1 MODERATE 1 SNV 1 1 1 PASS ATA . . 10607512 GLI4 . GRCh38 chr8 143276458 143276458 + Missense_Mutation SNP A A C rs1181189373 7316-387 BS_6458RHRT A A c.785A>C p.Asn262Thr p.N262T ENST00000340042 4/4 93 76 16 36 35 0 GLI4,missense_variant,p.Asn262Thr,ENST00000340042,NM_138465.3;GLI4,missense_variant,p.Asn262Thr,ENST00000523522,;GLI4,downstream_gene_variant,,ENST00000344692,;GLI4,downstream_gene_variant,,ENST00000517468,;GLI4,downstream_gene_variant,,ENST00000517530,;GLI4,downstream_gene_variant,,ENST00000520021,;GLI4,downstream_gene_variant,,ENST00000521682,;AC138696.1,downstream_gene_variant,,ENST00000522452,;MINCR,downstream_gene_variant,,ENST00000517411,;MINCR,downstream_gene_variant,,ENST00000518073,;MINCR,downstream_gene_variant,,ENST00000519852,;MINCR,downstream_gene_variant,,ENST00000521207,;MINCR,downstream_gene_variant,,ENST00000523031,;MINCR,downstream_gene_variant,,ENST00000524335,;GLI4,non_coding_transcript_exon_variant,,ENST00000523812,;GLI4,downstream_gene_variant,,ENST00000519876,;GLI4,downstream_gene_variant,,ENST00000522479,;GLI4,downstream_gene_variant,,ENST00000522033,; C ENSG00000250571 ENST00000340042 Transcript missense_variant 870/1341 785/1131 262/376 N/T aAc/aCc rs1181189373 1 1 GLI4 HGNC HGNC:4320 protein_coding YES CCDS6398.1 ENSP00000345024 P10075 UPI0000070432 NM_138465.3 tolerated(0.89) benign(0.223) 4/4 Gene3D:2.10.69.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAC . . 143276458 TIGD5 . GRCh38 chr8 143598586 143598586 + Missense_Mutation SNP A A C novel 7316-387 BS_6458RHRT A A c.683A>C p.Glu228Ala p.E228A ENST00000504548 1/1 67 50 7 36 36 0 TIGD5,missense_variant,p.Glu228Ala,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; C ENSG00000179886 ENST00000504548 Transcript missense_variant 752/5390 683/1929 228/642 E/A gAg/gCg 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 tolerated(0.2) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45428 MODERATE SNV PASS GAG . . 143598586 ZNF25 . GRCh38 chr10 37952410 37952410 + Missense_Mutation SNP T T G rs1274643623 7316-387 BS_6458RHRT T T c.1088A>C p.Lys363Thr p.K363T ENST00000302609 6/6 87 79 6 52 52 0 ZNF25,missense_variant,p.Lys363Thr,ENST00000302609,NM_145011.2,NM_001329652.1,NM_001329657.1,NM_001329649.1,NM_001329654.1,NM_001329648.1,NM_001329655.1,NM_001329651.1,NM_001329659.1;ZNF25,non_coding_transcript_exon_variant,,ENST00000374633,;ZNF25,downstream_gene_variant,,ENST00000467975,; G ENSG00000175395 ENST00000302609 Transcript missense_variant 1301/4139 1088/1371 363/456 K/T aAa/aCa rs1274643623 1 -1 ZNF25 HGNC HGNC:13043 protein_coding YES CCDS7195.1 ENSP00000302222 P17030 UPI0000071FFD NM_145011.2,NM_001329652.1,NM_001329657.1,NM_001329649.1,NM_001329654.1,NM_001329648.1,NM_001329655.1,NM_001329651.1,NM_001329659.1 tolerated(0.26) benign(0.022) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTT . . 37952410 CDHR5 . GRCh38 chr11 618710 618710 + Missense_Mutation SNP T T A 7316-387 BS_6458RHRT T T c.1849A>T p.Met617Leu p.M617L ENST00000358353 14/16 65 51 6 38 37 0 CDHR5,missense_variant,p.Met617Leu,ENST00000358353,;CDHR5,missense_variant,p.Met617Leu,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;IRF7,upstream_gene_variant,,ENST00000528413,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; A ENSG00000099834 ENST00000358353 Transcript missense_variant 2172/3635 1849/2538 617/845 M/L Atg/Ttg COSM3869725 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(0.7) benign(0) 14/16 mobidb-lite,hmmpanther:PTHR45160 1 MODERATE SNV 5 1 PASS ATA . . 618710 MUC5AC . GRCh38 chr11 1191890 1191890 + Missense_Mutation SNP C C T rs1234674142 7316-387 BS_6458RHRT C C c.13745C>T p.Thr4582Ile p.T4582I ENST00000621226 31/49 50 41 6 31 30 0 MUC5AC,missense_variant,p.Thr4582Ile,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; T ENSG00000215182 ENST00000621226 Transcript missense_variant 13792/17448 13745/16965 4582/5654 T/I aCa/aTa rs1234674142 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.16) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ACA . . 0.06287 0.02233 0.0425 0.216 0.01275 0.04046 0.06067 0.06503 0.1256 1191890 MUC5AC . GRCh38 chr11 1191899 1191899 + Missense_Mutation SNP C C T rs1269551888 7316-387 BS_6458RHRT C C c.13754C>T p.Thr4585Met p.T4585M ENST00000621226 31/49 53 43 7 32 31 0 MUC5AC,missense_variant,p.Thr4585Met,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; T ENSG00000215182 ENST00000621226 Transcript missense_variant 13801/17448 13754/16965 4585/5654 T/M aCg/aTg rs1269551888 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.06) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ACG . . 0.0002998 0.0001499 0.0004784 0.0005343 0.0001897 1191899 LARGE2 . GRCh38 chr11 45922911 45922911 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.29T>G p.Leu10Arg p.L10R ENST00000531526 2/14 72 52 16 31 31 0 LARGE2,missense_variant,p.Leu10Arg,ENST00000531526,NM_152312.4;LARGE2,missense_variant,p.Leu10Arg,ENST00000325468,;LARGE2,missense_variant,p.Leu10Arg,ENST00000401752,NM_001300721.1;LARGE2,missense_variant,p.Leu10Arg,ENST00000529052,NM_001300722.1;PEX16,upstream_gene_variant,,ENST00000378750,NM_004813.2;PEX16,upstream_gene_variant,,ENST00000525192,;PEX16,upstream_gene_variant,,ENST00000532681,;LARGE2,upstream_gene_variant,,ENST00000534410,;LARGE2,upstream_gene_variant,,ENST00000414027,;LARGE2,upstream_gene_variant,,ENST00000525609,;LARGE2,upstream_gene_variant,,ENST00000528236,;PEX16,upstream_gene_variant,,ENST00000528674,;PEX16,upstream_gene_variant,,ENST00000529030,;LARGE2,upstream_gene_variant,,ENST00000530437,;,regulatory_region_variant,,ENSR00000039462,; G ENSG00000165905 ENST00000531526 Transcript missense_variant 140/2528 29/2166 10/721 L/R cTg/cGg 1 1 LARGE2 HGNC HGNC:16522 protein_coding YES CCDS31473.1 ENSP00000432869 Q8N3Y3 UPI000004B639 NM_152312.4 deleterious_low_confidence(0) benign(0.145) 2/14 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12270:SF23,hmmpanther:PTHR12270 MODERATE 1 SNV 2 PASS CTG . . 45922911 KMT2A . GRCh38 chr11 118436649 118436649 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.137T>G p.Val46Gly p.V46G ENST00000534358 1/36 59 47 8 35 34 0 KMT2A,missense_variant,p.Val46Gly,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Val46Gly,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Val46Gly,ENST00000531904,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000529852,;KMT2A,upstream_gene_variant,,ENST00000532204,;KMT2A,upstream_gene_variant,,ENST00000533790,;AP001267.2,upstream_gene_variant,,ENST00000532619,;,regulatory_region_variant,,ENSR00000045630,; G ENSG00000118058 ENST00000534358 Transcript missense_variant 160/16602 137/11919 46/3972 V/G gTc/gGc 1 1 KMT2A HGNC HGNC:7132 protein_coding YES CCDS55791.1 ENSP00000436786 Q03164 UPI0001E5E732 NM_001197104.1 deleterious_low_confidence(0.01) benign(0) 1/36 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTC . . 118436649 PRB4 . GRCh38 chr12 11308808 11308808 + Missense_Mutation SNP C C T rs776943151 7316-387 BS_6458RHRT C C c.175G>A p.Gly59Arg p.G59R ENST00000279575 3/4 64 45 5 24 21 0 PRB4,missense_variant,p.Gly59Arg,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Gly59Arg,ENST00000535904,;PRB4,missense_variant,p.Gly59Arg,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Gly59Arg,ENST00000445719,; T ENSG00000230657 ENST00000279575 Transcript missense_variant 212/916 175/744 59/247 G/R Gga/Aga rs776943151,COSM1579461 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.33) benign(0.001) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 5 0,1 PASS CCT . . 0.003797 0.005671 0.003623 0.001827 0.007678 0.002934 0.003451 0.005359 0.003581 11308808 PRB4 . GRCh38 chr12 11308811 11308811 + Missense_Mutation SNP G G C rs76859544 7316-387 BS_6458RHRT G G c.172C>G p.Gln58Glu p.Q58E ENST00000279575 3/4 63 42 14 25 22 0 PRB4,missense_variant,p.Gln58Glu,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Gln58Glu,ENST00000535904,;PRB4,missense_variant,p.Gln58Glu,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Gln58Glu,ENST00000445719,; C ENSG00000230657 ENST00000279575 Transcript missense_variant 209/916 172/744 58/247 Q/E Caa/Gaa rs76859544,COSM1579417 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(1) benign(0) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 5 0,1 PASS TGT . . 0.004215 0.0061 0.004203 0.002131 0.009784 0.001884 0.003744 0.006316 0.004302 11308811 PRB4 . GRCh38 chr12 11308864 11308864 + Missense_Mutation SNP C C G rs77336955 7316-387 BS_6458RHRT C C c.119G>C p.Arg40Pro p.R40P ENST00000279575 3/4 74 57 10 23 22 0 PRB4,missense_variant,p.Arg40Pro,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Arg40Pro,ENST00000535904,;PRB4,missense_variant,p.Arg40Pro,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Arg40Pro,ENST00000445719,; G ENSG00000230657 ENST00000279575 Transcript missense_variant 156/916 119/744 40/247 R/P cGc/cCc rs77336955,COSM1732889,COSM125561 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.19) benign(0) 3/4 Pfam_domain:PF15240,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCG . . 1.313e-05 7.058e-05 1.884e-05 11308864 MMP17 . GRCh38 chr12 131828646 131828646 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.152T>G p.Leu51Arg p.L51R ENST00000360564 1/10 68 51 8 34 34 0 MMP17,missense_variant,p.Leu51Arg,ENST00000360564,NM_016155.5;MMP17,5_prime_UTR_variant,,ENST00000545671,;MMP17,5_prime_UTR_variant,,ENST00000545790,;,regulatory_region_variant,,ENSR00000270886,; G ENSG00000198598 ENST00000360564 Transcript missense_variant 254/2411 152/1812 51/603 L/R cTg/cGg 1 1 MMP17 HGNC HGNC:7163 protein_coding YES CCDS31927.1 ENSP00000353767 Q9ULZ9 UPI00001AF305 NM_016155.5 tolerated(0.32) benign(0.015) 1/10 hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF21,Pfam_domain:PF01471,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090 MODERATE 1 SNV 1 PASS CTG . . 131828646 PAN3 . GRCh38 chr13 28138737 28138737 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.80T>G p.Val27Gly p.V27G ENST00000380958 1/19 63 47 10 29 28 1 PAN3,missense_variant,p.Val27Gly,ENST00000380958,NM_175854.7;PAN3,upstream_gene_variant,,ENST00000399613,;PAN3-AS1,upstream_gene_variant,,ENST00000563843,;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;,regulatory_region_variant,,ENSR00000060397,; G ENSG00000152520 ENST00000380958 Transcript missense_variant 232/2833 80/2664 27/887 V/G gTg/gGg 1 1 PAN3 HGNC HGNC:29991 protein_coding YES CCDS9329.2 ENSP00000370345 Q58A45 UPI0001BE8112 NM_175854.7 tolerated_low_confidence(0.16) benign(0.005) 1/19 Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 28138737 ZIC2 . GRCh38 chr13 99982762 99982762 + Missense_Mutation SNP A A C novel 7316-387 BS_6458RHRT A A c.698A>C p.His233Pro p.H233P ENST00000376335 1/3 87 71 11 42 42 0 ZIC2,missense_variant,p.His233Pro,ENST00000376335,NM_007129.3;ZIC2,upstream_gene_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000477213,;ZIC2,upstream_gene_variant,,ENST00000481565,;ZIC2,upstream_gene_variant,,ENST00000490085,; C ENSG00000043355 ENST00000376335 Transcript missense_variant 991/2983 698/1599 233/532 H/P cAc/cCc 1 1 ZIC2 HGNC HGNC:12873 protein_coding YES CCDS9495.1 ENSP00000365514 O95409 A0A024RDY6 UPI000013C3DC NM_007129.3 deleterious(0.05) probably_damaging(0.979) 1/3 Low_complexity_(Seg):seg,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27 MODERATE 1 SNV 1 1 PASS CAC . . 99982762 ADPRHL1 . GRCh38 chr13 113404299 113404299 + Missense_Mutation SNP C C G rs1037654501 7316-387 BS_6458RHRT C C c.4983G>C p.Gln1661His p.Q1661H ENST00000612156 8/8 74 50 11 37 29 0 ADPRHL1,missense_variant,p.Gln1661His,ENST00000612156,; G ENSG00000153531 ENST00000612156 Transcript missense_variant 5070/9759 4983/5904 1661/1967 Q/H caG/caC rs1037654501 1 -1 ADPRHL1 HGNC HGNC:21303 protein_coding ENSP00000489048 A0A0U1RQK4 UPI000719A14C deleterious_low_confidence(0) unknown(0) 8/8 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS TCT . . 113404299 AL136295.3 . GRCh38 chr14 24131562 24131562 + Missense_Mutation SNP A A C novel 7316-387 BS_6458RHRT A A c.583A>C p.Asn195Thr p.N195T ENST00000558325 4/4 83 66 12 38 36 0 AL136295.3,missense_variant,p.Asn195Thr,ENST00000558325,;FITM1,5_prime_UTR_variant,,ENST00000267426,NM_203402.2;PSME1,upstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;PSME1,upstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,upstream_gene_variant,,ENST00000559123,;FITM1,upstream_gene_variant,,ENST00000559294,;PSME1,upstream_gene_variant,,ENST00000561435,NM_001281528.1;PSME1,upstream_gene_variant,,ENST00000470718,;PSME1,upstream_gene_variant,,ENST00000561059,;PSME1,upstream_gene_variant,,ENST00000561142,;,regulatory_region_variant,,ENSR00000066829,; C ENSG00000259371 ENST00000558325 Transcript missense_variant 583/850 584/851 195/283 N/T aAc/aCc 1 1 AL136295.3 Clone_based_ensembl_gene protein_coding YES ENSP00000453089 H0YL77 UPI0004620A05 deleterious_low_confidence(0.01) benign(0.024) 4/4 MODERATE SNV 5 PASS AAC . . 24131562 EXOC3L4 . GRCh38 chr14 103104012 103104012 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.1121T>G p.Val374Gly p.V374G ENST00000380069 3/11 83 75 7 29 29 0 EXOC3L4,missense_variant,p.Val374Gly,ENST00000380069,NM_001077594.1;EXOC3L4,missense_variant,p.Cys120Gly,ENST00000559116,;EXOC3L4,upstream_gene_variant,,ENST00000560304,;EXOC3L4,non_coding_transcript_exon_variant,,ENST00000560925,;EXOC3L4,non_coding_transcript_exon_variant,,ENST00000560102,;EXOC3L4,upstream_gene_variant,,ENST00000559661,;EXOC3L4,upstream_gene_variant,,ENST00000559693,;,regulatory_region_variant,,ENSR00000073491,; G ENSG00000205436 ENST00000380069 Transcript missense_variant 1197/2293 1121/2169 374/722 V/G gTg/gGg 1 1 EXOC3L4 HGNC HGNC:20120 protein_coding YES CCDS32163.1 ENSP00000369409 Q17RC7 UPI0000425FC1 NM_001077594.1 tolerated(0.33) benign(0.193) 3/11 hmmpanther:PTHR21292:SF14,hmmpanther:PTHR21292,Pfam_domain:PF06046 MODERATE 1 SNV 1 PASS GTG . . 103104012 GOLGA6L2 . GRCh38 chr15 23441555 23441555 + Missense_Mutation SNP C C T rs575452141 7316-387 BS_6458RHRT C C c.920G>A p.Gly307Glu p.G307E ENST00000567107 8/8 89 75 10 25 24 0 GOLGA6L2,missense_variant,p.Gly307Glu,ENST00000567107,NM_001304388.1;GOLGA6L2,missense_variant,p.Gly34Glu,ENST00000345070,;GOLGA6L2,missense_variant,p.Gly295Glu,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; T ENSG00000174450 ENST00000567107 Transcript missense_variant 973/3030 920/2730 307/909 G/E gGg/gAg rs575452141 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 tolerated_low_confidence(1) benign(0.001) 8/8 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21 0.0076 0.025 0.0043 0.002 MODERATE 1 SNV 5 PASS CCC . . 23441555 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-387 BS_6458RHRT A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 85 55 13 35 33 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 TPSD1 . GRCh38 chr16 1256816 1256816 + Missense_Mutation SNP G G A rs3993983 7316-387 BS_6458RHRT G G c.274G>A p.Ala92Thr p.A92T ENST00000211076 3/5 105 76 29 39 37 2 TPSD1,missense_variant,p.Ala92Thr,ENST00000211076,NM_012217.2;TPSD1,missense_variant,p.Ala85Thr,ENST00000397534,;AC120498.2,upstream_gene_variant,,ENST00000566997,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,; A ENSG00000095917 ENST00000211076 Transcript missense_variant 422/1499 274/729 92/242 A/T Gcc/Acc rs3993983,COSM226769 1 1 TPSD1 HGNC HGNC:14118 protein_coding YES CCDS10432.1 ENSP00000211076 Q9BZJ3 UPI000007066B NM_012217.2 tolerated(0.7) benign(0.005) 3/5 cd00190,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF149 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.1151 0.05762 0.06024 0.09403 0.1901 0.2873 0.104 0.118 0.09926 1256816 SALL3 . GRCh38 chr18 78994478 78994478 + Missense_Mutation SNP C C G rs1195540911 7316-387 BS_6458RHRT C C c.2487C>G p.Cys829Trp p.C829W ENST00000537592 2/3 61 55 5 32 29 0 SALL3,missense_variant,p.Cys829Trp,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Cys696Trp,ENST00000536229,;SALL3,missense_variant,p.Cys829Trp,ENST00000575389,;SALL3,missense_variant,p.Cys561Trp,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;,regulatory_region_variant,,ENSR00000286854,; G ENSG00000256463 ENST00000537592 Transcript missense_variant 2487/6555 2487/3903 829/1300 C/W tgC/tgG rs1195540911 1 1 SALL3 HGNC HGNC:10527 protein_coding YES CCDS12013.1 ENSP00000441823 Q9BXA9 UPI000013E5A7 NM_171999.3 deleterious(0.01) possibly_damaging(0.624) 2/3 hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46 MODERATE 1 SNV 5 PASS GCC . . 0.0001877 6.768e-05 0.0005794 0.0003127 0.0002353 0.0001113 0.000375 0.0001311 78994478 ZNF681 . GRCh38 chr19 23744143 23744143 + Missense_Mutation SNP T T A 7316-387 BS_6458RHRT T T c.1407A>T p.Lys469Asn p.K469N ENST00000402377 4/4 79 57 9 37 36 0 ZNF681,missense_variant,p.Lys469Asn,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; A ENSG00000196172 ENST00000402377 Transcript missense_variant 1549/6497 1407/1938 469/645 K/N aaA/aaT COSM1271707,COSM1271706 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 deleterious(0.02) possibly_damaging(0.749) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS TTT . . 23744143 ZNF347 . GRCh38 chr19 53141746 53141746 + Missense_Mutation SNP A A G rs1214346139 7316-387 BS_6458RHRT A A c.1085T>C p.Val362Ala p.V362A ENST00000452676 5/5 87 75 6 34 34 0 ZNF347,missense_variant,p.Val361Ala,ENST00000334197,NM_032584.2;ZNF347,missense_variant,p.Val362Ala,ENST00000452676,NM_001172674.1;ZNF347,missense_variant,p.Val362Ala,ENST00000601469,NM_001172675.1;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000595967,;ZNF347,downstream_gene_variant,,ENST00000597183,; G ENSG00000197937 ENST00000452676 Transcript missense_variant 1512/4553 1085/2523 362/840 V/A gTa/gCa rs1214346139 1 -1 ZNF347 HGNC HGNC:16447 protein_coding YES CCDS54314.1 ENSP00000405218 Q96SE7 A0A024R4L7 UPI000059D78C NM_001172674.1 tolerated(1) benign(0) 5/5 Gene3D:2.40.155.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF625,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TAC . . 53141746 ZNF343 . GRCh38 chr20 2483386 2483386 + Missense_Mutation SNP T T G novel 7316-387 BS_6458RHRT T T c.1698A>C p.Glu566Asp p.E566D ENST00000612935 8/8 73 56 8 30 28 0 ZNF343,missense_variant,p.Glu566Asp,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Glu525Asp,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Glu435Asp,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; G ENSG00000088876 ENST00000612935 Transcript missense_variant 2112/3675 1698/1923 566/640 E/D gaA/gaC 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 tolerated(0.11) benign(0.191) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS ATT . . 2483386 ELMO2 . GRCh38 chr20 46367406 46367406 + Missense_Mutation SNP A A T novel 7316-387 BS_6458RHRT A A c.2117T>A p.Ile706Asn p.I706N ENST00000290246 22/22 63 40 9 36 34 0 ELMO2,missense_variant,p.Ile618Asn,ENST00000372176,NM_001318253.1;ELMO2,missense_variant,p.Ile706Asn,ENST00000290246,NM_133171.4;ELMO2,missense_variant,p.Ile706Asn,ENST00000396391,NM_182764.2;ELMO2,missense_variant,p.Ile269Asn,ENST00000452857,;ELMO2,missense_variant,p.Ile704Asn,ENST00000352077,;SLC35C2,upstream_gene_variant,,ENST00000243896,NM_173179.3;SLC35C2,upstream_gene_variant,,ENST00000317734,NM_001281458.1;SLC35C2,upstream_gene_variant,,ENST00000372227,NM_001281460.1;SLC35C2,upstream_gene_variant,,ENST00000372230,NM_015945.11,NM_001281457.1;SLC35C2,upstream_gene_variant,,ENST00000543605,NM_001281459.1,NM_173073.3;AL133227.1,intron_variant,,ENST00000612368,;ELMO2,downstream_gene_variant,,ENST00000464448,;SLC35C2,upstream_gene_variant,,ENST00000481809,;SLC35C2,upstream_gene_variant,,ENST00000484188,;SLC35C2,upstream_gene_variant,,ENST00000484318,;ELMO2,3_prime_UTR_variant,,ENST00000467800,; T ENSG00000062598 ENST00000290246 Transcript missense_variant 2312/3669 2117/2163 706/720 I/N aTc/aAc 1 -1 ELMO2 HGNC HGNC:17233 protein_coding YES CCDS13398.1 ENSP00000290246 Q96JJ3 UPI000013F6C4 NM_133171.4 deleterious(0) probably_damaging(0.921) 22/22 hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF8,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GAT . . 46367406 CERK . GRCh38 chr22 46738005 46738005 + Splice_Site SNP A A C novel 7316-387 BS_6458RHRT A A c.142+2T>G p.X48_splice ENST00000216264 81 67 13 41 37 2 CERK,splice_donor_variant,,ENST00000216264,NM_022766.5;CERK,splice_donor_variant,,ENST00000460254,;CERK,splice_donor_variant,,ENST00000443629,;,regulatory_region_variant,,ENSR00000147452,; C ENSG00000100422 ENST00000216264 Transcript splice_donor_variant 1 -1 CERK HGNC HGNC:19256 protein_coding YES CCDS14077.1 ENSP00000216264 Q8TCT0 A0A024R4U8 UPI000004BBBD NM_022766.5 1/12 HIGH 1 SNV 1 PASS CAC . . 46738005 FAM47C . GRCh38 chrX 37009189 37009189 + Missense_Mutation SNP T T A novel 7316-387 BS_6458RHRT T T c.779T>A p.Leu260Gln p.L260Q ENST00000358047 1/1 83 59 11 33 29 0 FAM47C,missense_variant,p.Leu260Gln,ENST00000358047,NM_001013736.2;,regulatory_region_variant,,ENSR00000340352,; A ENSG00000198173 ENST00000358047 Transcript missense_variant 793/3270 779/3108 260/1035 L/Q cTg/cAg 1 1 FAM47C HGNC HGNC:25301 protein_coding YES CCDS35227.1 ENSP00000367913 Q5HY64 UPI000041ABF8 NM_001013736.2 tolerated(0.36) benign(0.003) 1/1 mobidb-lite,hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642,Pfam_domain:PF14642 MODERATE 1 SNV 1 PASS CTG . . 37009189 FRMPD3 . GRCh38 chrX 107597827 107597829 + In_Frame_Del DEL GAG GAG - rs765779456 7316-387 BS_6458RHRT GAG GAG c.2064_2066del p.Glu689del p.E689del ENST00000276185 15/16 68 54 5 40 36 0 FRMPD3,inframe_deletion,p.Glu689del,ENST00000276185,NM_032428.1;FRMPD3,inframe_deletion,p.Glu637del,ENST00000439554,; - ENSG00000147234 ENST00000276185 Transcript inframe_deletion 2047-2049/7304 2047-2049/5433 683/1810 E/- GAG/- rs765779456,COSM6036706,COSM6036705 1 1 FRMPD3 HGNC HGNC:29382 protein_coding YES CCDS76006.1 ENSP00000276185 Q5JV73 UPI00006C1C33 NM_032428.1 15/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45533 0.1426 0.1394 0,1,1 MODERATE 1 deletion 5 17 0,1,1 PASS GTGAGG . . 0.01845 0.004991 0.01487 0.03392 0.02506 0.008502 0.0259 0.01596 0.0125 107597826 RBMXL3 . GRCh38 chrX 115191367 115191367 + Missense_Mutation SNP T T A novel 7316-387 BS_6458RHRT T T c.1926T>A p.Ser642Arg p.S642R ENST00000424776 1/1 63 44 7 36 30 0 RBMXL3,missense_variant,p.Ser642Arg,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343012,; A ENSG00000175718 ENST00000424776 Transcript missense_variant 1941/3442 1926/3204 642/1067 S/R agT/agA 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.13) benign(0.139) 1/1 mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 MODERATE SNV PASS GTG . . 115191367 MAGEC1 . GRCh38 chrX 141907387 141907387 + Missense_Mutation SNP T T G rs1177079035 7316-387 BS_6458RHRT T T c.1983T>G p.His661Gln p.H661Q ENST00000285879 4/4 63 52 7 22 20 0 MAGEC1,missense_variant,p.His661Gln,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; G ENSG00000155495 ENST00000285879 Transcript missense_variant 2269/4270 1983/3429 661/1142 H/Q caT/caG rs1177079035 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(1) benign(0) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,hmmpanther:PTHR11736:SF17,mobidb-lite MODERATE 1 SNV 1 PASS ATA . . 141907387 ATAD3B . GRCh38 chr1 1495785 1495785 + Missense_Mutation SNP C C T rs9792879 7316-3773 BS_B7SMC7HM C C c.1915C>T p.Pro639Ser p.P639S ENST00000308647 16/16 63 51 12 26 25 0 ATAD3B,missense_variant,p.Pro639Ser,ENST00000308647,NM_001317238.1,NM_031921.5;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000485748,; T ENSG00000160072 ENST00000308647 Transcript missense_variant 2031/2448 1915/1947 639/648 P/S Ccg/Tcg rs9792879,COSM226436 1 1 ATAD3B HGNC HGNC:24007 protein_coding YES CCDS30.1 ENSP00000311766 Q5T9A4 UPI000013E044 NM_001317238.1,NM_031921.5 tolerated_low_confidence(0.34) benign(0.001) 16/16 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 0.1787 0.3339 0.1321 0.07124 0.4117 0.2373 0.1309 0.1347 0.2306 1495785 CCT4 . GRCh38 chr2 61877398 61877406 + In_Frame_Del DEL CTTCTTAAC CTTCTTAAC - novel 7316-3773 BS_B7SMC7HM CTTCTTAAC CTTCTTAAC c.631_639del p.Val211_Lys213del p.V211_K213del ENST00000394440 6/14 95 86 9 33 33 0 CCT4,inframe_deletion,p.Val211_Lys213del,ENST00000394440,NM_006430.3;CCT4,inframe_deletion,p.Val181_Lys183del,ENST00000544079,NM_001256721.1;AC107081.2,intron_variant,,ENST00000425779,;CCT4,upstream_gene_variant,,ENST00000461540,; - ENSG00000115484 ENST00000394440 Transcript inframe_deletion 928-936/2520 631-639/1620 211-213/539 VKK/- GTTAAGAAG/- 1 -1 CCT4 HGNC HGNC:1617 protein_coding YES CCDS33206.1 ENSP00000377958 P50991 UPI00000362DF NM_006430.3 6/14 cd03338,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF26,Gene3D:1.10.560.10,TIGRFAM_domain:TIGR02342,Pfam_domain:PF00118,Superfamily_domains:SSF54849 MODERATE 1 deletion 1 PASS AGCTTCTTAACT . . 61877397 UPP2 . GRCh38 chr2 158115119 158115119 + Missense_Mutation SNP A A C rs1222936229 7316-3773 BS_B7SMC7HM A A c.370A>C p.Ser124Arg p.S124R ENST00000605860 6/10 85 68 8 30 30 0 UPP2,missense_variant,p.Ser124Arg,ENST00000605860,NM_001135098.1;UPP2,missense_variant,p.Ser67Arg,ENST00000005756,NM_173355.3;UPP2,intron_variant,,ENST00000460456,; C ENSG00000007001 ENST00000605860 Transcript missense_variant 416/2435 370/1125 124/374 S/R Agc/Cgc rs1222936229 1 1 UPP2 HGNC HGNC:23061 protein_coding YES CCDS46435.1 ENSP00000474090 O95045 UPI0000EE2DE7 NM_001135098.1 deleterious(0) probably_damaging(0.963) 6/10 hmmpanther:PTHR43691:SF8,hmmpanther:PTHR43691,TIGRFAM_domain:TIGR01719,Pfam_domain:PF01048,Gene3D:3.40.50.1580,Superfamily_domains:SSF53167 MODERATE 1 SNV 5 PASS GAG . . 1.271e-05 3.229e-05 4.713e-05 3.378e-05 158115119 FIGN . GRCh38 chr2 163610809 163610810 + Frame_Shift_Ins INS - - GG rs1296999043 7316-3773 BS_B7SMC7HM - - c.1022_1023insCC p.Gln341HisfsTer35 p.Q341Hfs*35 ENST00000333129 3/3 77 61 11 28 23 0 FIGN,frameshift_variant,p.Gln341HisfsTer35,ENST00000333129,NM_018086.3;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,; GG ENSG00000182263 ENST00000333129 Transcript frameshift_variant 1337-1338/9536 1022-1023/2280 341/759 Q/HX cag/caCCg rs1296999043 1 -1 FIGN HGNC HGNC:13285 protein_coding YES CCDS2221.2 ENSP00000333836 Q5HY92 UPI000022BD13 NM_018086.3 3/3 hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14,mobidb-lite HIGH 1 insertion 1 PASS TCT . . 163610809 FIGN . GRCh38 chr2 163610828 163610829 + Frame_Shift_Del DEL TT TT - rs1464392854 7316-3773 BS_B7SMC7HM TT TT c.1003_1004del p.Asn335LeufsTer31 p.N335Lfs*31 ENST00000333129 3/3 72 56 11 29 27 0 FIGN,frameshift_variant,p.Asn335LeufsTer31,ENST00000333129,NM_018086.3;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,; - ENSG00000182263 ENST00000333129 Transcript frameshift_variant 1318-1319/9536 1003-1004/2280 335/759 N/X AAt/t rs1464392854 1 -1 FIGN HGNC HGNC:13285 protein_coding YES CCDS2221.2 ENSP00000333836 Q5HY92 UPI000022BD13 NM_018086.3 3/3 hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14 HIGH 1 deletion 1 PASS AATTT . . 163610827 CTNNB1 . GRCh38 chr3 41224610 41224610 + Missense_Mutation SNP C C T rs121913400 7316-3773 BS_B7SMC7HM C C c.98C>T p.Ser33Phe p.S33F ENST00000645320 3/15 66 54 12 32 32 0 CTNNB1,missense_variant,p.Ser33Phe,ENST00000645320,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Phe,ENST00000433400,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000644524,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000644678,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000642986,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000645900,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643297,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643541,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643031,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646381,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000642836,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000645493,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645210,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642992,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645276,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644867,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644873,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642886,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643977,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000647264,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646174,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642315,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643992,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000647390,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645982,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644138,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642248,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646116,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646725,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642426,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646369,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000647413,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; T ENSG00000168036 ENST00000645320 Transcript missense_variant 1941/4735 98/2346 33/781 S/F tCt/tTt rs121913400,COSM5677,COSM5673,COSM5669 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0) probably_damaging(1) 3/15 hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 likely_pathogenic,pathogenic,other 0,1,1,1 10192393,9065402,9294210,10666372 MODERATE 1 SNV 1,1,1,1 1 PASS TCT . . 41224610 GNAI2 . GRCh38 chr3 50257560 50257561 + Frame_Shift_Ins INS - - TGATACG novel 7316-3773 BS_B7SMC7HM - - c.938_939insTGATACG p.Lys313AsnfsTer28 p.K313Nfs*28 ENST00000313601 8/9 86 61 18 25 23 0 GNAI2,frameshift_variant,p.Lys313AsnfsTer28,ENST00000313601,NM_002070.3;GNAI2,frameshift_variant,p.Lys297AsnfsTer28,ENST00000422163,NM_001282619.1,NM_001282620.1;GNAI2,frameshift_variant,p.Lys261AsnfsTer28,ENST00000266027,NM_001282618.1,NM_001282617.1;GNAI2,frameshift_variant,p.Lys261AsnfsTer28,ENST00000440628,;GNAI2,frameshift_variant,p.Lys276AsnfsTer28,ENST00000451956,NM_001166425.1;U73166.1,upstream_gene_variant,,ENST00000426302,;U73166.1,upstream_gene_variant,,ENST00000439898,;U73166.1,upstream_gene_variant,,ENST00000453717,;GNAI2,non_coding_transcript_exon_variant,,ENST00000491100,;GNAI2,3_prime_UTR_variant,,ENST00000441156,;GNAI2,3_prime_UTR_variant,,ENST00000446079,;GNAI2,non_coding_transcript_exon_variant,,ENST00000490122,;GNAI2,non_coding_transcript_exon_variant,,ENST00000492383,;GNAI2,downstream_gene_variant,,ENST00000468422,; TGATACG ENSG00000114353 ENST00000313601 Transcript frameshift_variant 1322-1323/2464 938-939/1068 313/355 K/NDTX aag/aaTGATACGg 1 1 GNAI2 HGNC HGNC:4385 protein_coding YES CCDS2813.1 ENSP00000312999 P04899 UPI000000124B NM_002070.3 8/9 cd00066,hmmpanther:PTHR10218:SF73,hmmpanther:PTHR10218,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540 HIGH 1 insertion 1 1 PASS AAG . . 50257560 GNAI2 . GRCh38 chr3 50257564 50257570 + Frame_Shift_Del DEL CAAAGAC CAAAGAC - rs1332272879 7316-3773 BS_B7SMC7HM CAAAGAC CAAAGAC c.942_948del p.Lys315ProfsTer33 p.K315Pfs*33 ENST00000313601 8/9 88 63 19 25 23 0 GNAI2,frameshift_variant,p.Lys315ProfsTer33,ENST00000313601,NM_002070.3;GNAI2,frameshift_variant,p.Lys299ProfsTer33,ENST00000422163,NM_001282619.1,NM_001282620.1;GNAI2,frameshift_variant,p.Lys263ProfsTer33,ENST00000266027,NM_001282618.1,NM_001282617.1;GNAI2,frameshift_variant,p.Lys263ProfsTer33,ENST00000440628,;GNAI2,frameshift_variant,p.Lys278ProfsTer33,ENST00000451956,NM_001166425.1;U73166.1,upstream_gene_variant,,ENST00000426302,;U73166.1,upstream_gene_variant,,ENST00000439898,;U73166.1,upstream_gene_variant,,ENST00000453717,;GNAI2,non_coding_transcript_exon_variant,,ENST00000491100,;GNAI2,3_prime_UTR_variant,,ENST00000441156,;GNAI2,3_prime_UTR_variant,,ENST00000446079,;GNAI2,non_coding_transcript_exon_variant,,ENST00000490122,;GNAI2,non_coding_transcript_exon_variant,,ENST00000492383,;GNAI2,downstream_gene_variant,,ENST00000468422,; - ENSG00000114353 ENST00000313601 Transcript frameshift_variant 1326-1332/2464 942-948/1068 314-316/355 RKD/X cgCAAAGAC/cg rs1332272879 1 1 GNAI2 HGNC HGNC:4385 protein_coding YES CCDS2813.1 ENSP00000312999 P04899 UPI000000124B NM_002070.3 8/9 cd00066,hmmpanther:PTHR10218:SF73,hmmpanther:PTHR10218,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540 HIGH 1 deletion 1 1 PASS CGCAAAGACA . . 8.935e-06 3.421e-05 7.089e-05 50257563 MUC4 . GRCh38 chr3 195781111 195781111 + Missense_Mutation SNP T T G rs757671347 7316-3773 BS_B7SMC7HM T T c.10469A>C p.His3490Pro p.H3490P ENST00000463781 2/25 110 82 19 20 18 0 MUC4,missense_variant,p.His3490Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His3490Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His3490Pro,ENST00000478156,;MUC4,missense_variant,p.His3490Pro,ENST00000466475,;MUC4,missense_variant,p.His3490Pro,ENST00000477756,;MUC4,missense_variant,p.His3490Pro,ENST00000477086,;MUC4,missense_variant,p.His3490Pro,ENST00000480843,;MUC4,missense_variant,p.His3490Pro,ENST00000462323,;MUC4,missense_variant,p.His3490Pro,ENST00000470451,;MUC4,missense_variant,p.His3490Pro,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 10929/17110 10469/16239 3490/5412 H/P cAt/cCt rs757671347,COSM224247 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.29) benign(0.234) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS ATG . . 0.0006005 0.005783 0.0009316 0.002524 0.0001949 0.0003975 0.00106 195781111 NRG2 . GRCh38 chr5 140042980 140042982 + In_Frame_Del DEL GCT GCT - rs772610870 7316-3773 BS_B7SMC7HM GCT GCT c.88_90del p.Ser30del p.S30del ENST00000361474 1/10 65 53 5 24 22 0 NRG2,inframe_deletion,p.Ser30del,ENST00000541337,NM_001184935.1;NRG2,inframe_deletion,p.Ser30del,ENST00000361474,NM_004883.2;NRG2,inframe_deletion,p.Ser30del,ENST00000289422,NM_013982.2;NRG2,inframe_deletion,p.Ser30del,ENST00000358522,NM_013983.2;NRG2,inframe_deletion,p.Ser30del,ENST00000289409,NM_013981.3;NRG2,inframe_deletion,p.Ser30del,ENST00000378238,;,regulatory_region_variant,,ENSR00000187726,; - ENSG00000158458 ENST00000361474 Transcript inframe_deletion 313-315/3020 88-90/2553 30/850 S/- AGC/- rs772610870,TMP_ESP_5_139422565_139422567,COSM6458428,COSM6458427 1 -1 NRG2 HGNC HGNC:7998 protein_coding YES CCDS4217.1 ENSP00000354910 O14511 UPI0000130507 NM_004883.2 1/10 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF20,Gene3D:2.60.40.10 0.02444 0.02183 0,0,1,1 MODERATE 1 deletion 1 0,0,1,1 PASS TCGCTG . . 0.003368 0.008978 0.002231 0.001974 0.00564 0.005309 0.003734 0.001174 0.001236 140042979 TRBV5-5 . GRCh38 chr7 142482721 142482721 + Splice_Region SNP C C T rs773523336 7316-3773 BS_B7SMC7HM C C c.50-5C>T ENST00000390372 73 57 14 34 31 0 TRBV5-5,splice_region_variant,,ENST00000390372,;,regulatory_region_variant,,ENSR00000219254,; T ENSG00000211725 ENST00000390372 Transcript splice_region_variant,intron_variant rs773523336 1 1 TRBV5-5 HGNC HGNC:12222 TR_V_gene YES ENSP00000374895 A0A597 UPI00001140E8 1/1 LOW 1 SNV PASS CCA . . 142482721 NRG1 . GRCh38 chr8 31640284 31640286 + In_Frame_Del DEL GGC GGC - rs770519581 7316-3773 BS_B7SMC7HM GGC GGC c.314_316del p.Ala105del p.A105del ENST00000520407 1/5 73 63 5 20 19 0 NRG1,inframe_deletion,p.Ala105del,ENST00000520407,NM_001160005.1,NM_013962.2;NRG1,inframe_deletion,p.Ala105del,ENST00000614767,;NRG1,intron_variant,,ENST00000518104,NM_001159999.2,NM_001159995.2,NM_001322203.1;NRG1,intron_variant,,ENST00000519301,NM_001322205.1,NM_001160001.2,NM_001322201.1,NM_001322202.1;NRG1,upstream_gene_variant,,ENST00000523534,;,regulatory_region_variant,,ENSR00000223176,; - ENSG00000157168 ENST00000520407 Transcript inframe_deletion 530-532/1955 300-302/1269 100-101/422 KA/K aaGGCg/aag rs770519581 1 1 NRG1 HGNC HGNC:7997 protein_coding CCDS47836.1 ENSP00000434640 Q02297 UPI000002AFA2 NM_001160005.1,NM_013962.2 1/5 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 deletion 1 14 1 PASS AAGGCG . . 31640283 SAP18 . GRCh38 chr13 21140977 21140982 + In_Frame_Del DEL AGTTGC AGTTGC - rs1368427729 7316-3773 BS_B7SMC7HM AGTTGC AGTTGC c.223_228del p.Leu75_Gln76del p.L75_Q76del ENST00000621421 2/4 70 62 5 32 30 0 SAP18,inframe_deletion,p.Leu75_Gln76del,ENST00000621421,NM_005870.4;SAP18,inframe_deletion,p.Leu75_Gln76del,ENST00000382533,;SAP18,inframe_deletion,p.Leu56_Gln57del,ENST00000607003,;SAP18,inframe_deletion,p.Leu32_Gln33del,ENST00000467636,;SAP18,inframe_deletion,p.Leu53_Gln54del,ENST00000450573,;SAP18,inframe_deletion,p.Leu55_Gln56del,ENST00000492245,;RF00086,upstream_gene_variant,,ENST00000516319,;SAP18,non_coding_transcript_exon_variant,,ENST00000485646,;,regulatory_region_variant,,ENSR00000059758,; - ENSG00000150459 ENST00000621421 Transcript inframe_deletion 260-265/2300 221-226/519 74-76/172 ELQ/E gAGTTGCag/gag rs1368427729,COSM6862485 1 1 SAP18 HGNC HGNC:10530 protein_coding YES CCDS9295.2 ENSP00000481842 X6RAL5 UPI000187B6C9 NM_005870.4 2/4 Pfam_domain:PF06487,PIRSF_domain:PIRSF037637,hmmpanther:PTHR13082 0,1 MODERATE 1 deletion 1 2 0,1 PASS CGAGTTGCA . . 4.109e-05 0.0001222 5.874e-05 9.009e-06 0.0003722 6.605e-05 21140976 DEF8 . GRCh38 chr16 89964240 89964241 + Frame_Shift_Ins INS - - CTTTTTTAATGATA rs1487111325 7316-3773 BS_B7SMC7HM - - c.1257_1258insTTTTTTAATGATAC p.Gly420PhefsTer83 p.G420Ffs*83 ENST00000268676 11/13 78 66 12 31 31 0 DEF8,frameshift_variant,p.Gly359PhefsTer83,ENST00000563594,NM_001242818.1;DEF8,frameshift_variant,p.Gly359PhefsTer83,ENST00000617948,NM_001242820.1;DEF8,frameshift_variant,p.Gly420PhefsTer83,ENST00000268676,NM_207514.2;DEF8,frameshift_variant,p.Gly349PhefsTer83,ENST00000570182,NM_001242816.1;DEF8,frameshift_variant,p.Gly359PhefsTer83,ENST00000569453,;DEF8,frameshift_variant,p.Gly342PhefsTer83,ENST00000563795,NM_001242819.1;DEF8,frameshift_variant,p.Gly299PhefsTer83,ENST00000567874,NM_001242817.1;DEF8,intron_variant,,ENST00000561959,;DEF8,downstream_gene_variant,,ENST00000418391,NM_017702.3,NM_001242822.1;DEF8,downstream_gene_variant,,ENST00000562578,;DEF8,downstream_gene_variant,,ENST00000562986,;DEF8,downstream_gene_variant,,ENST00000610455,NM_001242821.1;DEF8,non_coding_transcript_exon_variant,,ENST00000562163,;DEF8,downstream_gene_variant,,ENST00000562044,;DEF8,downstream_gene_variant,,ENST00000563848,;DEF8,non_coding_transcript_exon_variant,,ENST00000564379,;DEF8,non_coding_transcript_exon_variant,,ENST00000563805,;DEF8,downstream_gene_variant,,ENST00000568760,; CTTTTTTAATGATA ENSG00000140995 ENST00000268676 Transcript frameshift_variant 1345-1346/3725 1256-1257/1539 419/512 A/AFFNDX gcc/gcCTTTTTTAATGATAc rs1487111325 1 1 DEF8 HGNC HGNC:25969 protein_coding YES CCDS10989.1 ENSP00000268676 Q6ZN54 UPI0000359601 NM_207514.2 11/13 Gene3D:3.30.60.20,Pfam_domain:PF13901,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF3,SMART_domains:SM01175 HIGH 1 insertion 2 1 PASS GCC . . 1.252e-05 6.121e-05 0.0001878 89964240 MED16 . GRCh38 chr19 875275 875279 + Frame_Shift_Del DEL CAGCC CAGCC - rs1428907591 7316-3773 BS_B7SMC7HM CAGCC CAGCC c.1736_1740del p.Arg579HisfsTer13 p.R579Hfs*13 ENST00000325464 10/16 94 74 16 23 23 0 MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000395808,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000312090,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000325464,NM_005481.2;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000589119,;MED16,frameshift_variant,p.Arg333HisfsTer13,ENST00000607471,;MED16,frameshift_variant,p.Arg510HisfsTer13,ENST00000592943,;MED16,frameshift_variant,p.Arg435HisfsTer13,ENST00000586017,;MED16,frameshift_variant,p.Arg167HisfsTer13,ENST00000606828,;MED16,intron_variant,,ENST00000269814,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,upstream_gene_variant,,ENST00000621073,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000606248,;,regulatory_region_variant,,ENSR00000105561,; - ENSG00000175221 ENST00000325464 Transcript frameshift_variant 1887-1891/2922 1736-1740/2634 579-580/877 RL/X cGGCTG/c rs1428907591,COSM1724576 1 -1 MED16 HGNC HGNC:17556 protein_coding YES CCDS12047.1 ENSP00000325612 Q9Y2X0 UPI0000141671 NM_005481.2 10/16 Pfam_domain:PF11635,hmmpanther:PTHR13224 0,1 HIGH 1 deletion 5 0,1 PASS GTCAGCCG . . 0.00176 0.003278 0.002615 0.00159 0.002705 0.0001441 0.001357 0.002191 0.002236 875274 MED16 . GRCh38 chr19 875287 875288 + Frame_Shift_Del DEL GG GG - novel 7316-3773 BS_B7SMC7HM GG GG c.1727_1728del p.Pro576ArgfsTer17 p.P576Rfs*17 ENST00000325464 10/16 102 80 14 23 23 0 MED16,frameshift_variant,p.Pro576ArgfsTer17,ENST00000395808,;MED16,frameshift_variant,p.Pro576ArgfsTer17,ENST00000312090,;MED16,frameshift_variant,p.Pro576ArgfsTer17,ENST00000325464,NM_005481.2;MED16,frameshift_variant,p.Pro576ArgfsTer17,ENST00000589119,;MED16,frameshift_variant,p.Pro330ArgfsTer17,ENST00000607471,;MED16,frameshift_variant,p.Pro507ArgfsTer17,ENST00000592943,;MED16,frameshift_variant,p.Pro432ArgfsTer17,ENST00000586017,;MED16,frameshift_variant,p.Pro164ArgfsTer17,ENST00000606828,;MED16,intron_variant,,ENST00000269814,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,upstream_gene_variant,,ENST00000621073,;MED16,frameshift_variant,p.Pro576ArgfsTer17,ENST00000606248,;,regulatory_region_variant,,ENSR00000105561,; - ENSG00000175221 ENST00000325464 Transcript frameshift_variant 1878-1879/2922 1727-1728/2634 576/877 P/X cCC/c 1 -1 MED16 HGNC HGNC:17556 protein_coding YES CCDS12047.1 ENSP00000325612 Q9Y2X0 UPI0000141671 NM_005481.2 10/16 Pfam_domain:PF11635,hmmpanther:PTHR13224 HIGH 1 deletion 5 PASS CCGGG . . 875286 MED16 . GRCh38 chr19 875295 875296 + Frame_Shift_Ins INS - - TAAAAAA novel 7316-3773 BS_B7SMC7HM - - c.1719_1720insTTTTTTA p.Lys574PhefsTer22 p.K574Ffs*22 ENST00000325464 10/16 98 77 16 24 24 0 MED16,frameshift_variant,p.Lys574PhefsTer22,ENST00000395808,;MED16,frameshift_variant,p.Lys574PhefsTer22,ENST00000312090,;MED16,frameshift_variant,p.Lys574PhefsTer22,ENST00000325464,NM_005481.2;MED16,frameshift_variant,p.Lys574PhefsTer22,ENST00000589119,;MED16,frameshift_variant,p.Lys328PhefsTer22,ENST00000607471,;MED16,frameshift_variant,p.Lys505PhefsTer22,ENST00000592943,;MED16,frameshift_variant,p.Lys430PhefsTer22,ENST00000586017,;MED16,frameshift_variant,p.Lys162PhefsTer22,ENST00000606828,;MED16,intron_variant,,ENST00000269814,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,upstream_gene_variant,,ENST00000621073,;MED16,frameshift_variant,p.Lys574PhefsTer22,ENST00000606248,;,regulatory_region_variant,,ENSR00000105561,; TAAAAAA ENSG00000175221 ENST00000325464 Transcript frameshift_variant 1870-1871/2922 1719-1720/2634 573-574/877 -/FFX -/TTTTTTA 1 -1 MED16 HGNC HGNC:17556 protein_coding YES CCDS12047.1 ENSP00000325612 Q9Y2X0 UPI0000141671 NM_005481.2 10/16 Pfam_domain:PF11635,hmmpanther:PTHR13224 HIGH 1 insertion 5 PASS TTG . . 875295 TPRX1 . GRCh38 chr19 47802497 47802497 + Missense_Mutation SNP A A G rs1468529739 7316-3773 BS_B7SMC7HM A A c.514T>C p.Ser172Pro p.S172P ENST00000322175 2/2 83 60 13 20 15 0 TPRX1,missense_variant,p.Ser269Pro,ENST00000535759,;TPRX1,missense_variant,p.Ser172Pro,ENST00000322175,NM_198479.2;TPRX1,missense_variant,p.Ser162Pro,ENST00000543508,; G ENSG00000178928 ENST00000322175 Transcript missense_variant 670/1924 514/1236 172/411 S/P Tca/Cca rs1468529739 1 -1 TPRX1 HGNC HGNC:32174 protein_coding YES CCDS33066.1 ENSP00000323455 Q8N7U7 UPI0000198666 NM_198479.2 tolerated(0.33) benign(0) 2/2 hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF25,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAG . . 47802497 POTEH . GRCh38 chr22 15700121 15700121 + Missense_Mutation SNP G G A rs200138043 7316-3773 BS_B7SMC7HM G G c.1072G>A p.Val358Ile p.V358I ENST00000343518 5/11 68 55 13 20 20 0 POTEH,missense_variant,p.Val358Ile,ENST00000343518,NM_001136213.1;POTEH,missense_variant,p.Val321Ile,ENST00000621704,;RNU6-816P,upstream_gene_variant,,ENST00000390914,;POTEH-AS1,non_coding_transcript_exon_variant,,ENST00000422014,;POTEH,3_prime_UTR_variant,,ENST00000452800,; A ENSG00000198062 ENST00000343518 Transcript missense_variant 1124/1928 1072/1638 358/545 V/I Gtc/Atc rs200138043,COSM3842122 1 1 POTEH HGNC HGNC:133 protein_coding YES CCDS74808.1 ENSP00000340610 Q6S545 UPI0000E5A425 NM_001136213.1 tolerated(0.11) possibly_damaging(0.815) 5/11 PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,cd00204,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403 0,1 MODERATE SNV 5 0,1 PASS AGT . . 15700121 MICAL3 . GRCh38 chr22 17832059 17832061 + In_Frame_Del DEL CTC CTC - rs759042299 7316-3773 BS_B7SMC7HM CTC CTC c.2848_2850del p.Glu950del p.E950del ENST00000441493 21/32 75 62 5 33 30 0 MICAL3,inframe_deletion,p.Glu950del,ENST00000441493,NM_015241.2;MICAL3,downstream_gene_variant,,ENST00000400561,NM_001122731.2;MICAL3,upstream_gene_variant,,ENST00000498573,;MICAL3,upstream_gene_variant,,ENST00000578984,;,regulatory_region_variant,,ENSR00000143585,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; - ENSG00000243156 ENST00000441493 Transcript inframe_deletion 3201-3203/9445 2848-2850/6009 950/2002 E/- GAG/- rs759042299,COSM1031902 1 -1 MICAL3 HGNC HGNC:24694 protein_coding YES CCDS46659.1 ENSP00000416015 Q7RTP6 UPI0001823FDE NM_015241.2 21/32 Gene3D:2.10.110.10,hmmpanther:PTHR44265,hmmpanther:PTHR44265:SF1,mobidb-lite,Low_complexity_(Seg):seg 0.03099 0.0388 0,1 MODERATE 1 deletion 5 0,1 PASS GGCTCC . . 0.00177 0.002274 0.001123 0.0005747 0.00132 0.001822 0.002349 0.001075 0.001019 17832058 PIWIL3 . GRCh38 chr22 24755913 24755913 + Splice_Region SNP T T A novel 7316-3773 BS_B7SMC7HM T T c.571-8A>T ENST00000332271 64 56 7 26 26 0 PIWIL3,splice_region_variant,,ENST00000332271,NM_001008496.3,NM_001255975.1;PIWIL3,splice_region_variant,,ENST00000527701,;PIWIL3,splice_region_variant,,ENST00000533313,;PIWIL3,splice_region_variant,,ENST00000616349,;PIWIL3,splice_region_variant,,ENST00000532537,; A ENSG00000184571 ENST00000332271 Transcript splice_region_variant,intron_variant 1 -1 PIWIL3 HGNC HGNC:18443 protein_coding YES CCDS33623.1 ENSP00000330031 Q7Z3Z3 UPI00002073D6 NM_001008496.3,NM_001255975.1 5/20 LOW 1 SNV 1 PASS TTA . . 24755913 HORMAD1 . GRCh38 chr1 150714123 150714124 + Splice_Region INS - - A rs772686171 7316-166 BS_ZDSXV5N1 - - c.243-3dup ENST00000361824 78 64 9 44 40 0 HORMAD1,splice_region_variant,,ENST00000322343,NM_001199829.1;HORMAD1,splice_region_variant,,ENST00000361824,NM_032132.4;HORMAD1,splice_region_variant,,ENST00000368987,;HORMAD1,splice_region_variant,,ENST00000368995,;HORMAD1,splice_region_variant,,ENST00000442853,;HORMAD1,splice_region_variant,,ENST00000476530,; A ENSG00000143452 ENST00000361824 Transcript splice_region_variant,intron_variant rs772686171 1 -1 HORMAD1 HGNC HGNC:25245 protein_coding YES CCDS967.1 ENSP00000355167 Q86X24 A0A140VKG9 UPI000000DBE5 NM_032132.4 4/14 LOW 1 insertion 1 PASS CTA . . 0.003649 0.005221 0.009141 0.003418 0.005773 0.0006332 0.002597 0.004462 0.004244 150714123 IGFN1 . GRCh38 chr1 201211357 201211357 + Missense_Mutation SNP A A G rs371677542 7316-166 BS_ZDSXV5N1 A A c.6464A>G p.Glu2155Gly p.E2155G ENST00000335211 12/24 57 44 13 31 31 0 IGFN1,missense_variant,p.Glu2155Gly,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6594/11810 6464/11127 2155/3708 E/G gAg/gGg rs371677542,COSM4143193 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.85) benign(0) 12/24 mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS GAG . . 0.03184 0.03009 0.06048 0.0152 0.08312 0.01353 0.02082 0.03691 0.03947 201211357 MAP10 . GRCh38 chr1 232805207 232805207 + Missense_Mutation SNP T T C rs10797593 7316-166 BS_ZDSXV5N1 T T c.184T>C p.Ser62Pro p.S62P ENST00000418460 1/1 82 76 5 42 42 0 MAP10,missense_variant,p.Ser62Pro,ENST00000418460,NM_019090.2;,regulatory_region_variant,,ENSR00000021918,; C ENSG00000212916 ENST00000418460 Transcript missense_variant 316/3516 184/3144 62/1047 S/P Tca/Cca rs10797593,COSM146821 1 1 MAP10 HGNC HGNC:29265 protein_coding YES CCDS44334.1 ENSP00000403208 Q9P2G4 UPI0000418F25 NM_019090.2 benign(0.003) 1/1 Low_complexity_(Seg):seg 0.1188 0.1861 0.0836 0.1369 0.0567 0.0982 0.1809 0.04683 0,1 MODERATE 1 SNV 0,1 PASS ATC . . 0.0714 0.1909 0.08904 0.06142 0.1438 0.0217 0.04617 0.06389 0.08437 232805207 NEB . GRCh38 chr2 151575797 151575797 + Splice_Region SNP T T C rs33988153 7316-166 BS_ZDSXV5N1 T T c.16911A>G p.Pro5637= p.P5637= ENST00000618972 107/183 75 69 5 47 47 0 NEB,splice_region_variant,p.Pro5637=,ENST00000618972,NM_001271208.1;NEB,splice_region_variant,p.Pro5637=,ENST00000397345,NM_001164508.1;NEB,splice_region_variant,p.Pro5637=,ENST00000427231,NM_001164507.1;NEB,splice_region_variant,p.Pro5637=,ENST00000603639,;NEB,splice_region_variant,p.Pro5637=,ENST00000604864,;NEB,splice_region_variant,p.Pro3936=,ENST00000409198,NM_004543.4;NEB,splice_region_variant,p.Pro3936=,ENST00000172853,;NEB,splice_region_variant,p.Pro367=,ENST00000413693,; C ENSG00000183091 ENST00000618972 Transcript splice_region_variant,synonymous_variant 17114/26307 16911/25683 5637/8560 P ccA/ccG rs33988153,COSM3757670,COSM3757669,COSM3757668 1 -1 NEB HGNC HGNC:7720 protein_coding YES CCDS74588.1 ENSP00000484342 A0A087X1N7 UPI0004E4CCB0 NM_001271208.1 107/183 Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227 0.1102 0.0113 0.1282 0.004 0.2406 0.2065 0.04583 0.2531 likely_benign 0,1,1,1 25741868,24033266,23757202 LOW 1 SNV 5 1,1,1,1 1 PASS TTG . . 0.1971 0.04027 0.1018 0.2884 0.0009285 0.2531 0.2532 0.213 0.2137 151575797 TMBIM1 . GRCh38 chr2 218282080 218282080 + Missense_Mutation SNP G G A rs2292553 7316-166 BS_ZDSXV5N1 G G c.62C>T p.Pro21Leu p.P21L ENST00000444881 3/13 95 89 6 33 33 0 TMBIM1,missense_variant,p.Pro21Leu,ENST00000444881,NM_001321427.1;TMBIM1,missense_variant,p.Pro21Leu,ENST00000396809,NM_001321435.1,NM_001321429.1,NM_001321430.1;TMBIM1,missense_variant,p.Pro21Leu,ENST00000258412,NM_022152.5,NM_001321438.1,NM_001321433.1,NM_001321432.1,NM_001321428.1,NM_001321436.1;TMBIM1,missense_variant,p.Pro21Leu,ENST00000429501,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000440422,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000418569,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000434015,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000444000,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000425694,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000453776,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000453281,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000444183,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000451181,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000413976,;PNKD,intron_variant,,ENST00000273077,NM_015488.4;TMBIM1,intron_variant,,ENST00000445635,;TMBIM1,downstream_gene_variant,,ENST00000420341,;MIR6513,upstream_gene_variant,,ENST00000621188,;PNKD,intron_variant,,ENST00000472650,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000437694,;TMBIM1,missense_variant,p.Pro21Leu,ENST00000439306,;TMBIM1,non_coding_transcript_exon_variant,,ENST00000495113,;TMBIM1,intron_variant,,ENST00000466012,;TMBIM1,upstream_gene_variant,,ENST00000465082,;TMBIM1,upstream_gene_variant,,ENST00000476429,;TMBIM1,upstream_gene_variant,,ENST00000492966,; A ENSG00000135926 ENST00000444881 Transcript missense_variant 788/2936 62/936 21/311 P/L cCg/cTg rs2292553,COSM4133447 1 -1 TMBIM1 HGNC HGNC:23410 protein_coding YES CCDS2412.1 ENSP00000409738 Q969X1 A0A024R472 UPI000007073C NM_001321427.1 deleterious(0.04) benign(0) 3/13 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23291:SF35,hmmpanther:PTHR23291 0.4495 0.059 0.5058 0.6161 0.5835 0.6278 0.1431 0.5475 0,1 MODERATE SNV 2 0,1 PASS CGG . . 0.551 0.1188 0.4937 0.5278 0.6181 0.6841 0.5656 0.5406 0.6477 218282080 TTC21A . GRCh38 chr3 39110854 39110854 + Missense_Mutation SNP G G A rs1112438 7316-166 BS_ZDSXV5N1 G G c.272G>A p.Arg91Gln p.R91Q ENST00000431162 4/29 98 92 5 37 36 0 TTC21A,missense_variant,p.Arg91Gln,ENST00000431162,NM_145755.2;TTC21A,missense_variant,p.Arg91Gln,ENST00000440121,NM_001105513.2;GORASP1,upstream_gene_variant,,ENST00000319283,NM_031899.3;GORASP1,upstream_gene_variant,,ENST00000416741,;GORASP1,upstream_gene_variant,,ENST00000422110,NM_001278790.1;GORASP1,upstream_gene_variant,,ENST00000437458,;GORASP1,upstream_gene_variant,,ENST00000441081,;GORASP1,upstream_gene_variant,,ENST00000479927,NM_001278789.1;GORASP1,upstream_gene_variant,,ENST00000411813,;GORASP1,upstream_gene_variant,,ENST00000413243,;GORASP1,upstream_gene_variant,,ENST00000493751,;GORASP1,upstream_gene_variant,,ENST00000493938,;TTC21A,missense_variant,p.Arg91Gln,ENST00000430597,;TTC21A,synonymous_variant,p.Pro122=,ENST00000425163,;TTC21A,non_coding_transcript_exon_variant,,ENST00000479954,;TTC21A,non_coding_transcript_exon_variant,,ENST00000459702,;TTC21A,intron_variant,,ENST00000431559,;TTC21A,intron_variant,,ENST00000493337,;GORASP1,upstream_gene_variant,,ENST00000427459,;GORASP1,upstream_gene_variant,,ENST00000431601,;GORASP1,upstream_gene_variant,,ENST00000441302,;GORASP1,upstream_gene_variant,,ENST00000452389,;GORASP1,upstream_gene_variant,,ENST00000453680,;GORASP1,upstream_gene_variant,,ENST00000466443,;GORASP1,upstream_gene_variant,,ENST00000469471,;GORASP1,upstream_gene_variant,,ENST00000470910,;GORASP1,upstream_gene_variant,,ENST00000473827,;GORASP1,upstream_gene_variant,,ENST00000488479,;TTC21A,downstream_gene_variant,,ENST00000490036,;GORASP1,upstream_gene_variant,,ENST00000492064,;GORASP1,upstream_gene_variant,,ENST00000493851,; A ENSG00000168026 ENST00000431162 Transcript missense_variant 406/4209 272/3963 91/1320 R/Q cGa/cAa rs1112438,COSM1422909 1 1 TTC21A HGNC HGNC:30761 protein_coding YES CCDS46800.1 ENSP00000398211 Q8NDW8 UPI00015D46B9 NM_145755.2 tolerated(0.12) benign(0.003) 4/29 Gene3D:1.25.40.10,hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF2 0.3476 0.5681 0.2911 0.252 0.2714 0.2669 0.4916 0.2851 0,1 25596401 MODERATE 1 SNV 1 0,1 PASS CGA . . 0.2887 0.5221 0.2637 0.3543 0.2424 0.2572 0.2744 0.2931 0.2793 39110854 CTNNB1 . GRCh38 chr3 41224610 41224610 + Missense_Mutation SNP C C T rs121913400 7316-166 BS_ZDSXV5N1 C C c.98C>T p.Ser33Phe p.S33F ENST00000645320 3/15 79 45 34 19 19 0 CTNNB1,missense_variant,p.Ser33Phe,ENST00000645320,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000349496,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Phe,ENST00000433400,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000644524,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000644678,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000642986,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000645900,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643297,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643541,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643031,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646381,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000642836,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000645493,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645210,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642992,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645276,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644867,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644873,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642886,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643977,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000647264,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646174,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642315,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000643992,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000647390,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000645982,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000644138,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642248,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000646116,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646725,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000642426,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646369,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000647413,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; T ENSG00000168036 ENST00000645320 Transcript missense_variant 1941/4735 98/2346 33/781 S/F tCt/tTt rs121913400,COSM5677,COSM5673,COSM5669 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0) probably_damaging(1) 3/15 hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 likely_pathogenic,pathogenic,other 0,1,1,1 10192393,9065402,9294210,10666372 MODERATE 1 SNV 1,1,1,1 1 PASS TCT . . 41224610 QRICH1 . GRCh38 chr3 49057482 49057482 + Missense_Mutation SNP T T G novel 7316-166 BS_ZDSXV5N1 T T c.718A>C p.Ser240Arg p.S240R ENST00000395443 3/10 61 45 5 42 40 0 QRICH1,missense_variant,p.Ser240Arg,ENST00000395443,NM_001320584.1,NM_198880.2,NM_001320585.1;QRICH1,missense_variant,p.Ser240Arg,ENST00000357496,NM_017730.3;QRICH1,missense_variant,p.Ser240Arg,ENST00000424300,NM_001320580.1,NM_001320582.1,NM_001320581.1,NM_001320583.1;QRICH1,intron_variant,,ENST00000479449,; G ENSG00000198218 ENST00000395443 Transcript missense_variant 1191/3549 718/2331 240/776 S/R Agt/Cgt 1 -1 QRICH1 HGNC HGNC:24713 protein_coding YES CCDS2787.1 ENSP00000378830 Q2TAL8 A1L3Z9 UPI0000209C85 NM_001320584.1,NM_198880.2,NM_001320585.1 deleterious(0.01) benign(0.181) 3/10 mobidb-lite,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25 MODERATE 1 SNV 1 1 PASS CTG . . 49057482 AMACR . GRCh38 chr5 34004602 34004602 + Missense_Mutation SNP C C T rs10941112 7316-166 BS_ZDSXV5N1 C C c.524G>A p.Gly175Asp p.G175D ENST00000382085 3/6 76 71 5 44 44 0 AMACR,missense_variant,p.Gly175Asp,ENST00000335606,NM_014324.5;AMACR,missense_variant,p.Gly175Asp,ENST00000502637,;AMACR,missense_variant,p.Gly175Asp,ENST00000426255,;AMACR,missense_variant,p.Gly175Asp,ENST00000382085,NM_001167595.1;AMACR,missense_variant,p.Gly175Asp,ENST00000512079,;AMACR,intron_variant,,ENST00000382068,;AMACR,intron_variant,,ENST00000382072,NM_203382.2;AMACR,intron_variant,,ENST00000514195,;C1QTNF3-AMACR,intron_variant,,ENST00000382079,;AMACR,intron_variant,,ENST00000506639,; T ENSG00000242110 ENST00000382085 Transcript missense_variant 533/1195 524/1185 175/394 G/D gGc/gAc rs10941112,CM099356,COSM5941249 1 -1 AMACR HGNC HGNC:451 protein_coding YES CCDS54836.1 ENSP00000371517 Q9UHK6 UPI000020C93C NM_001167595.1 deleterious(0.02) possibly_damaging(0.622) 3/6 Gene3D:3.40.50.10540,Pfam_domain:PF02515,hmmpanther:PTHR44134,Superfamily_domains:SSF89796 0.2526 0.0242 0.4006 0.3472 0.504 0.1002 0.1096 0.5249 benign 0,0,1 20445798,19252927,20011102,20945498,20875727,24383053 MODERATE 1 SNV 1 1,1,1 1 PASS GCC . . 0.4203 0.08792 0.4117 0.5402 0.3297 0.5302 0.5292 0.4572 0.1259 34004602 ADGRV1 . GRCh38 chr5 90683881 90683881 + Missense_Mutation SNP C C T rs4916685 7316-166 BS_ZDSXV5N1 C C c.5960C>T p.Pro1987Leu p.P1987L ENST00000405460 28/90 84 78 6 47 46 0 ADGRV1,missense_variant,p.Pro1987Leu,ENST00000405460,;ADGRV1,missense_variant,p.Pro1987Leu,ENST00000645211,NM_032119.3;ADGRV1,missense_variant,p.Pro1084Leu,ENST00000640403,;ADGRV1,missense_variant,p.Pro258Leu,ENST00000640779,;ADGRV1,non_coding_transcript_exon_variant,,ENST00000639473,;ADGRV1,intron_variant,,ENST00000639431,;ADGRV1,intron_variant,,ENST00000640012,; T ENSG00000164199 ENST00000405460 Transcript missense_variant 6056/19554 5960/18921 1987/6306 P/L cCt/cTt rs4916685,COSM149880 1 1 ADGRV1 HGNC HGNC:17416 protein_coding YES CCDS47246.1 ENSP00000384582 Q8WXG9 UPI00002127A7 tolerated(0.08) probably_damaging(0.995) 28/90 Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237 0.3373 0.261 0.5086 0.375 0.3201 0.2975 0.2507 0.3302 0,1 25741868,24033266 MODERATE 1 SNV 1 0,1 1 PASS CCT . . 0.3635 0.2513 0.5868 0.2697 0.3707 0.3354 0.3353 0.3697 0.3235 90683881 PSMG4 . GRCh38 chr6 3264292 3264292 + Missense_Mutation SNP C C T rs4959788 7316-166 BS_ZDSXV5N1 C C c.334C>T p.Leu112Phe p.L112F ENST00000419065 3/4 85 79 6 48 48 0 PSMG4,missense_variant,p.Leu112Phe,ENST00000419065,NM_001128592.1;PSMG4,3_prime_UTR_variant,,ENST00000473000,NM_001135750.1;PSMG4,intron_variant,,ENST00000380305,;PSMG4,intron_variant,,ENST00000380306,;PSMG4,intron_variant,,ENST00000438998,NM_001128591.1;PSMG4,intron_variant,,ENST00000451246,;PSMG4,intron_variant,,ENST00000454610,;SLC22A23,downstream_gene_variant,,ENST00000436008,;PSMG4,3_prime_UTR_variant,,ENST00000324987,;PSMG4,intron_variant,,ENST00000509933,; T ENSG00000180822 ENST00000419065 Transcript missense_variant 405/629 334/489 112/162 L/F Ctt/Ttt rs4959788,COSM1443452,COSM1443451 1 1 PSMG4 HGNC HGNC:21108 protein_coding YES CCDS47360.1 ENSP00000392353 Q5JS54 UPI00001D810B NM_001128592.1 tolerated_low_confidence(0.34) benign(0) 3/4 hmmpanther:PTHR33559 0.5321 0.1074 0.7464 0.5635 0.832 0.6135 0.03974 0.5506 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TCT . . 0.729 0.1842 0.7321 0.7621 0.5792 0.8659 0.8183 0.7483 0.6473 3264292 PSMG4 . GRCh38 chr6 3264293 3264293 + Missense_Mutation SNP T T C rs4959789 7316-166 BS_ZDSXV5N1 T T c.335T>C p.Leu112Pro p.L112P ENST00000419065 3/4 85 79 6 48 48 0 PSMG4,missense_variant,p.Leu112Pro,ENST00000419065,NM_001128592.1;PSMG4,3_prime_UTR_variant,,ENST00000473000,NM_001135750.1;PSMG4,intron_variant,,ENST00000380305,;PSMG4,intron_variant,,ENST00000380306,;PSMG4,intron_variant,,ENST00000438998,NM_001128591.1;PSMG4,intron_variant,,ENST00000451246,;PSMG4,intron_variant,,ENST00000454610,;SLC22A23,downstream_gene_variant,,ENST00000436008,;PSMG4,3_prime_UTR_variant,,ENST00000324987,;PSMG4,intron_variant,,ENST00000509933,; C ENSG00000180822 ENST00000419065 Transcript missense_variant 406/629 335/489 112/162 L/P cTt/cCt rs4959789,COSM1443454,COSM1443453 1 1 PSMG4 HGNC HGNC:21108 protein_coding YES CCDS47360.1 ENSP00000392353 Q5JS54 UPI00001D810B NM_001128592.1 tolerated_low_confidence(0.09) benign(0) 3/4 hmmpanther:PTHR33559 0.6172 0.3033 0.7651 0.6647 0.8429 0.6554 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CTT . . 0.7518 0.3617 0.7437 0.7831 0.6683 0.8664 0.8194 0.7623 0.6707 3264293 PSMB8 . GRCh38 chr6 32842666 32842666 + Splice_Region SNP G G A rs9276810 7316-166 BS_ZDSXV5N1 G G c.407+6C>T ENST00000374882 86 79 6 36 36 0 PSMB8,splice_region_variant,,ENST00000374881,NM_004159.4;PSMB8,splice_region_variant,,ENST00000374882,NM_148919.3;PSMB8,splice_region_variant,,ENST00000395339,;TAP1,downstream_gene_variant,,ENST00000354258,NM_000593.5,NM_001292022.1;TAP2,upstream_gene_variant,,ENST00000374897,NM_001290043.1;TAP2,upstream_gene_variant,,ENST00000374899,NM_018833.2;PSMB9,upstream_gene_variant,,ENST00000395330,;PSMB9,upstream_gene_variant,,ENST00000414474,;AL669918.1,upstream_gene_variant,,ENST00000452392,;TAP2,upstream_gene_variant,,ENST00000620123,NM_000544.3;TAP1,downstream_gene_variant,,ENST00000643049,;PSMB8-AS1,upstream_gene_variant,,ENST00000412095,;PSMB8-AS1,upstream_gene_variant,,ENST00000413039,;PSMB8-AS1,upstream_gene_variant,,ENST00000415067,;PSMB8-AS1,upstream_gene_variant,,ENST00000429600,;PSMB8-AS1,upstream_gene_variant,,ENST00000453426,;PSMB8-AS1,upstream_gene_variant,,ENST00000458296,;TAP1,downstream_gene_variant,,ENST00000643923,;TAP1,downstream_gene_variant,,ENST00000645078,;PSMB8,splice_region_variant,,ENST00000484003,;TAP1,downstream_gene_variant,,ENST00000486332,;TAP1,downstream_gene_variant,,ENST00000487296,;PSMB8,upstream_gene_variant,,ENST00000490613,; A ENSG00000204264 ENST00000374882 Transcript splice_region_variant,intron_variant rs9276810,COSM4417842,COSM4417841 1 -1 PSMB8 HGNC HGNC:9545 protein_coding YES CCDS4757.1 ENSP00000364016 P28062 X5CMJ9 UPI0000140B8A NM_148919.3 3/5 0.4355 0.3729 0.438 0.4484 0.4592 0.4806 0.4058 0.4465 benign 0,1,1 21804012,22727420 LOW 1 SNV 1 1,1,1 1 PASS CGC . . 0.4416 0.4018 0.4571 0.3892 0.4225 0.4034 0.4583 0.4271 0.4416 32842666 COL11A2 . GRCh38 chr6 33173503 33173503 + Missense_Mutation SNP G G A rs2855430 7316-166 BS_ZDSXV5N1 G G c.2423C>T p.Pro808Leu p.P808L ENST00000374708 34/64 91 86 5 39 38 0 COL11A2,missense_variant,p.Pro894Leu,ENST00000341947,NM_080680.2;COL11A2,missense_variant,p.Pro808Leu,ENST00000374708,NM_080681.2;COL11A2,missense_variant,p.Pro787Leu,ENST00000361917,NM_080679.2;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,intron_variant,,ENST00000477772,; A ENSG00000204248 ENST00000374708 Transcript missense_variant,splice_region_variant 2682/6209 2423/4953 808/1650 P/L cCg/cTg rs2855430,COSM3761989 1 -1 COL11A2 HGNC HGNC:2187 protein_coding YES CCDS43452.1 ENSP00000363840 Q4VXY6 UPI000013E9A5 NM_080681.2 deleterious(0.05) possibly_damaging(0.685) 34/64 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509,Gene3D:2.160.20.50 0.1022 0.0098 0.0735 0.0992 0.1421 0.2096 0.02726 0.1315 benign 0,1 25741868,24033266,18309376 MODERATE 1 SNV 5 1,1 1 PASS CGG . . 0.1219 0.02391 0.05944 0.08795 0.09571 0.1774 0.1336 0.1161 0.1837 33173503 MYO6 . GRCh38 chr6 75890140 75890141 + Frame_Shift_Ins INS - - A rs551348450 7316-166 BS_ZDSXV5N1 - - c.2751dup p.Gln918ThrfsTer24 p.Q918Tfs*24 ENST00000369977 26/35 61 48 6 27 23 0 MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369981,;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369985,NM_001300899.1;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369977,NM_004999.3;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000369975,;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000627432,;MYO6,frameshift_variant,p.Gln918ThrfsTer24,ENST00000615563,;MYO6,upstream_gene_variant,,ENST00000430435,; A ENSG00000196586 ENST00000369977 Transcript frameshift_variant 2881-2882/5597 2742-2743/3858 914-915/1285 -/X -/A rs551348450 1 1 MYO6 HGNC HGNC:7605 protein_coding YES CCDS34487.1 ENSP00000358994 Q9UM54 UPI00000727CF NM_004999.3 26/35 Gene3D:3.40.50.300,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF719,Low_complexity_(Seg):seg 0.0036 0.0083 0.0014 0.0061 0.002111 0.003756 HIGH 1 insertion 1 9 1 PASS AGA . . 0.0003741 0.0003944 0.0003085 0.0002428 0.0001528 4.852e-05 0.0005461 0.0006652 0.0001565 75890140 IL20RA . GRCh38 chr6 137002076 137002076 + Missense_Mutation SNP G G A rs1342642 7316-166 BS_ZDSXV5N1 G G c.1144C>T p.Leu382Phe p.L382F ENST00000316649 7/7 84 79 5 47 47 0 IL20RA,missense_variant,p.Leu271Phe,ENST00000367748,NM_001278723.1,NM_001278724.1;IL20RA,missense_variant,p.Leu382Phe,ENST00000316649,NM_014432.3;IL20RA,missense_variant,p.Leu333Phe,ENST00000541547,NM_001278722.1;IL20RA,downstream_gene_variant,,ENST00000468393,;AL135902.2,downstream_gene_variant,,ENST00000458017,; A ENSG00000016402 ENST00000316649 Transcript missense_variant 1380/3485 1144/1662 382/553 L/F Ctc/Ttc rs1342642,CM099919,COSM3761495 1 -1 IL20RA HGNC HGNC:6003 protein_coding YES CCDS5181.1 ENSP00000314976 Q9UHF4 UPI000006FA41 NM_014432.3 tolerated(0.21) benign(0.38) 7/7 hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF21 0.1997 0.2383 0.183 0.0714 0.2594 0.2301 0.2217 0.27 0,0,1 18194558,24069534,19926456 MODERATE 1 SNV 1 0,1,1 PASS AGA . . 0.216 0.217 0.1393 0.2272 0.06628 0.1808 0.2613 0.2338 0.2375 137002076 MUC17 . GRCh38 chr7 101032231 101032231 + Missense_Mutation SNP G G A rs10259584 7316-166 BS_ZDSXV5N1 G G c.815G>A p.Gly272Glu p.G272E ENST00000306151 3/13 74 69 5 42 42 0 MUC17,missense_variant,p.Gly272Glu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly272Glu,ENST00000379439,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 879/14247 815/13482 272/4493 G/E gGa/gAa rs10259584,COSM6331640 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0.1364 0.2519 0.085 0.0665 0.1173 0.1084 0.2202 0.1147 0,1 MODERATE 1 SNV 1 0,1 PASS GGA . . 0.112 0.2279 0.07728 0.1333 0.05214 0.08943 0.1126 0.1192 0.1317 101032231 CUX1 . GRCh38 chr7 102178640 102178640 + Frame_Shift_Del DEL A A - rs781843485 7316-166 BS_ZDSXV5N1 A A c.1037del p.Asn346ThrfsTer20 p.N346Tfs*20 ENST00000360264 11/24 82 71 8 45 45 0 CUX1,frameshift_variant,p.Asn346ThrfsTer20,ENST00000360264,NM_001202543.1;CUX1,frameshift_variant,p.Asn335ThrfsTer20,ENST00000292535,NM_181552.3;CUX1,frameshift_variant,p.Asn335ThrfsTer20,ENST00000546411,;CUX1,frameshift_variant,p.Asn346ThrfsTer20,ENST00000645010,;CUX1,frameshift_variant,p.Asn346ThrfsTer20,ENST00000646649,;CUX1,frameshift_variant,p.Asn335ThrfsTer20,ENST00000549414,;CUX1,frameshift_variant,p.Asn335ThrfsTer20,ENST00000550008,;CUX1,frameshift_variant,p.Asn335ThrfsTer20,ENST00000556210,;CUX1,frameshift_variant,p.Asn344ThrfsTer20,ENST00000437600,NM_181500.3;CUX1,frameshift_variant,p.Asn346ThrfsTer20,ENST00000292538,NM_001913.4;CUX1,frameshift_variant,p.Asn346ThrfsTer20,ENST00000622516,;CUX1,frameshift_variant,p.Asn330ThrfsTer20,ENST00000547394,NM_001202544.2;CUX1,frameshift_variant,p.Asn300ThrfsTer20,ENST00000425244,NM_001202545.2;CUX1,frameshift_variant,p.Asn307ThrfsTer20,ENST00000393824,NM_001202546.2;CUX1,non_coding_transcript_exon_variant,,ENST00000560541,;CUX1,non_coding_transcript_exon_variant,,ENST00000558836,; - ENSG00000257923 ENST00000360264 Transcript frameshift_variant 1053/13762 1033/4551 345/1516 K/X Aaa/aa rs781843485 1 1 CUX1 HGNC HGNC:2557 protein_coding YES CCDS56498.1 ENSP00000353401 P39880 UPI00001AEB98 NM_001202543.1 11/24 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF4,Gene3D:1.20.1170.10 HIGH 1 deletion 1 4 1 PASS CCAA . . 3.023e-05 7.313e-05 6.034e-05 2.897e-05 6.766e-05 102178639 CCAR2 . GRCh38 chr8 22614838 22614838 + Frame_Shift_Del DEL T T - novel 7316-166 BS_ZDSXV5N1 T T c.1046del p.Leu349CysfsTer48 p.L349Cfs*48 ENST00000308511 11/21 66 55 6 42 41 0 CCAR2,frameshift_variant,p.Leu349CysfsTer48,ENST00000308511,;CCAR2,frameshift_variant,p.Leu349CysfsTer48,ENST00000389279,NM_021174.5;CCAR2,frameshift_variant,p.Leu24CysfsTer48,ENST00000520861,;CCAR2,frameshift_variant,p.Leu41CysfsTer48,ENST00000520738,;CCAR2,frameshift_variant,p.Leu167CysfsTer48,ENST00000522599,;CCAR2,upstream_gene_variant,,ENST00000613179,;AC037459.3,non_coding_transcript_exon_variant,,ENST00000521025,;CCAR2,upstream_gene_variant,,ENST00000520536,;CCAR2,downstream_gene_variant,,ENST00000521020,;CCAR2,upstream_gene_variant,,ENST00000521436,; - ENSG00000158941 ENST00000308511 Transcript frameshift_variant,splice_region_variant 1291/4853 1042/2772 348/923 F/X Ttt/tt 1 1 CCAR2 HGNC HGNC:23360 protein_coding YES CCDS34863.1 ENSP00000310670 Q8N163 UPI0000070A46 11/21 hmmpanther:PTHR14304:SF12,hmmpanther:PTHR14304,Pfam_domain:PF14443,SMART_domains:SM01122 HIGH 1 deletion 1 4 PASS AGTT . . 22614837 PIP4P2 . GRCh38 chr8 91020253 91020253 + Frame_Shift_Del DEL T T - 7316-166 BS_ZDSXV5N1 T T c.266del p.Asn89ThrfsTer26 p.N89Tfs*26 ENST00000285419 3/7 90 79 6 31 30 0 PIP4P2,frameshift_variant,p.Asn89ThrfsTer26,ENST00000285419,NM_018710.2;PIP4P2,frameshift_variant,p.Asn95ThrfsTer26,ENST00000520014,;PIP4P2,downstream_gene_variant,,ENST00000630164,;AC087439.1,downstream_gene_variant,,ENST00000517920,;PIP4P2,frameshift_variant,p.Asn89ThrfsTer26,ENST00000518359,;PIP4P2,3_prime_UTR_variant,,ENST00000518869,;PIP4P2,intron_variant,,ENST00000520709,; - ENSG00000155099 ENST00000285419 Transcript frameshift_variant 581/2970 266/774 89/257 N/X aAc/ac COSM5875093 1 -1 PIP4P2 HGNC HGNC:25452 protein_coding YES CCDS6252.1 ENSP00000285419 Q8N4L2 UPI0000071563 NM_018710.2 3/7 Pfam_domain:PF09788,hmmpanther:PTHR21014,hmmpanther:PTHR21014:SF5 1 HIGH 1 deletion 1 1 PASS GGTT . . 91020252 PRRC2B . GRCh38 chr9 131475956 131475956 + Missense_Mutation SNP C C T rs11243403 7316-166 BS_ZDSXV5N1 C C c.3827C>T p.Ala1276Val p.A1276V ENST00000357304 15/31 79 74 5 31 31 0 PRRC2B,missense_variant,p.Ala1276Val,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Ala10Val,ENST00000451855,;PRRC2B,intron_variant,,ENST00000405995,;PRRC2B,downstream_gene_variant,,ENST00000456307,; T ENSG00000130723 ENST00000357304 Transcript missense_variant 3882/11042 3827/6690 1276/2229 A/V gCg/gTg rs11243403,COSM4163439,COSM4163440 1 1 PRRC2B HGNC HGNC:28121 protein_coding YES CCDS48044.1 ENSP00000349856 Q5JSZ5 UPI00002374A3 NM_013318.3 tolerated(0.58) benign(0) 15/31 mobidb-lite,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038 0.3357 0.3707 0.3228 0.1161 0.5586 0.2945 0.4187 0.5875 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCG . . 0.4674 0.3936 0.2928 0.4992 0.11 0.5998 0.5917 0.4883 0.342 131475956 FAM45A . GRCh38 chr10 119136574 119136574 + Frame_Shift_Del DEL A A - novel 7316-166 BS_ZDSXV5N1 A A c.1005del p.Lys335AsnfsTer14 p.K335Nfs*14 ENST00000361432 9/9 58 51 5 34 33 0 FAM45A,frameshift_variant,p.Lys335AsnfsTer14,ENST00000361432,NM_001303112.1,NM_001303113.1,NM_207009.3,NM_001303111.1;SFXN4,downstream_gene_variant,,ENST00000355697,NM_213649.1;FAM45A,non_coding_transcript_exon_variant,,ENST00000489988,;FAM45A,non_coding_transcript_exon_variant,,ENST00000489936,;FAM45A,intron_variant,,ENST00000498549,;SFXN4,downstream_gene_variant,,ENST00000461438,;FAM45A,downstream_gene_variant,,ENST00000462327,;SFXN4,downstream_gene_variant,,ENST00000484960,;SFXN4,downstream_gene_variant,,ENST00000490417,;,regulatory_region_variant,,ENSR00000034211,; - ENSG00000119979 ENST00000361432 Transcript frameshift_variant 1027/1648 1001/1074 334/357 Q/X cAa/ca 1 1 FAM45A HGNC HGNC:31793 protein_coding YES CCDS7609.1 ENSP00000354688 Q8TCE6 UPI0000071DBA NM_001303112.1,NM_001303113.1,NM_207009.3,NM_001303111.1 9/9 PROSITE_profiles:PS50211,hmmpanther:PTHR28544 HIGH 1 deletion 1 4 PASS GCAA . . 119136573 OR51S1 . GRCh38 chr11 4848419 4848419 + Missense_Mutation SNP G G A rs12361955 7316-166 BS_ZDSXV5N1 G G c.790C>T p.Leu264Phe p.L264F ENST00000322101 1/1 78 72 6 26 26 0 OR51S1,missense_variant,p.Leu264Phe,ENST00000322101,NM_001004758.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,; A ENSG00000176922 ENST00000322101 Transcript missense_variant 820/1750 790/972 264/323 L/F Ctc/Ttc rs12361955,COSM3752406 1 -1 OR51S1 HGNC HGNC:15204 protein_coding YES CCDS31362.1 ENSP00000322754 Q8NGJ8 A0A126GWN3 UPI0000041C33 NM_001004758.1 deleterious(0.01) benign(0.007) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15222,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF73,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0.2993 0.3411 0.2608 0.0675 0.4046 0.4008 0.3487 0.4304 0,1 MODERATE SNV 0,1 PASS AGG . . 0.3642 0.3544 0.2132 0.4893 0.05696 0.4476 0.4272 0.3833 0.3739 4848419 PZP . GRCh38 chr12 9168905 9168905 + Missense_Mutation SNP C C T rs3213832 7316-166 BS_ZDSXV5N1 C C c.2071G>A p.Val691Met p.V691M ENST00000261336 17/36 84 77 6 36 35 0 PZP,missense_variant,p.Val691Met,ENST00000261336,NM_002864.2;PZP,non_coding_transcript_exon_variant,,ENST00000546197,;PZP,non_coding_transcript_exon_variant,,ENST00000546116,;PZP,upstream_gene_variant,,ENST00000539983,;PZP,upstream_gene_variant,,ENST00000540995,;PZP,upstream_gene_variant,,ENST00000543108,;PZP,3_prime_UTR_variant,,ENST00000535230,; T ENSG00000126838 ENST00000261336 Transcript missense_variant 2100/4610 2071/4449 691/1482 V/M Gtg/Atg rs3213832,COSM4987462,COSM4987461 1 -1 PZP HGNC HGNC:9750 protein_coding YES CCDS8600.1 ENSP00000261336 P20742 UPI000013D168 NM_002864.2 tolerated(0.26) benign(0) 17/36 hmmpanther:PTHR11412:SF92,hmmpanther:PTHR11412 0.1505 0.06105 0,1,1 19105203 MODERATE 1 SNV 1 0,1,1 PASS ACG . . 0.06221 0.1522 0.02845 0.06976 0.04059 0.02579 0.05865 0.05821 0.1041 9168905 MANSC1 . GRCh38 chr12 12330462 12330462 + Frame_Shift_Del DEL A A - 7316-166 BS_ZDSXV5N1 A A c.861del p.Phe287LeufsTer17 p.F287Lfs*17 ENST00000535902 4/4 75 66 5 34 34 0 MANSC1,frameshift_variant,p.Phe287LeufsTer17,ENST00000535902,NM_018050.2;MANSC1,frameshift_variant,p.Phe253LeufsTer17,ENST00000396349,;MANSC1,frameshift_variant,p.Phe206LeufsTer17,ENST00000545735,; - ENSG00000111261 ENST00000535902 Transcript frameshift_variant 1425/5831 861/1296 287/431 F/X ttT/tt COSM5801911 1 -1 MANSC1 HGNC HGNC:25505 protein_coding YES CCDS8648.1 ENSP00000438205 Q9H8J5 UPI0000049E05 NM_018050.2 4/4 Low_complexity_(Seg):seg,hmmpanther:PTHR16021:SF7,hmmpanther:PTHR16021 1 HIGH 1 deletion 1 1 PASS GTAA . . 12330461 PLBD1 . GRCh38 chr12 14535710 14535710 + Missense_Mutation SNP C C T rs7957558 7316-166 BS_ZDSXV5N1 C C c.793G>A p.Val265Ile p.V265I ENST00000240617 6/11 83 78 5 41 41 0 PLBD1,missense_variant,p.Val265Ile,ENST00000240617,NM_024829.5;PLBD1,downstream_gene_variant,,ENST00000540572,;AC008114.1,downstream_gene_variant,,ENST00000544122,;PLBD1,3_prime_UTR_variant,,ENST00000541618,;PLBD1,non_coding_transcript_exon_variant,,ENST00000541800,; T ENSG00000121316 ENST00000240617 Transcript missense_variant 1446/2426 793/1662 265/553 V/I Gtc/Atc rs7957558 1 -1 PLBD1 HGNC HGNC:26215 protein_coding YES CCDS31751.1 ENSP00000240617 Q6P4A8 UPI00004565DA NM_024829.5 tolerated(1) benign(0) 6/11 hmmpanther:PTHR12370,hmmpanther:PTHR12370:SF1,Pfam_domain:PF04916 0.8852 0.6346 0.9553 0.9861 0.9841 0.9683 0.6956 0.9774 MODERATE 1 SNV 1 PASS ACG . . 0.9602 0.674 0.9741 0.9724 0.9879 0.9877 0.9813 0.9653 0.9704 14535710 DUSP6 . GRCh38 chr12 89351700 89351700 + Missense_Mutation SNP C C A rs2279574 7316-166 BS_ZDSXV5N1 C C c.340G>T p.Val114Leu p.V114L ENST00000279488 1/3 72 65 6 51 49 1 DUSP6,missense_variant,p.Val114Leu,ENST00000279488,NM_001946.3;DUSP6,missense_variant,p.Val114Leu,ENST00000308385,NM_022652.3;DUSP6,missense_variant,p.Val114Leu,ENST00000548755,;DUSP6,upstream_gene_variant,,ENST00000547291,;AC024909.2,non_coding_transcript_exon_variant,,ENST00000611513,;DUSP6,upstream_gene_variant,,ENST00000547140,;,regulatory_region_variant,,ENSR00000055056,; A ENSG00000139318 ENST00000279488 Transcript missense_variant 1572/4400 340/1146 114/381 V/L Gtg/Ttg rs2279574,COSM3753523 1 -1 DUSP6 HGNC HGNC:3072 protein_coding YES CCDS9033.1 ENSP00000279488 Q16828 A0A024RBC1 UPI000013ED2F NM_001946.3 tolerated(0.07) benign(0.431) 1/3 Gene3D:3.40.250.10,Pfam_domain:PF00581,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50206,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF45,SMART_domains:SM00450,Superfamily_domains:SSF52821,cd01446 0.4663 0.2753 0.4784 0.5992 0.5557 0.4867 0.2822 0.5079 0,1 22155192,28231233 MODERATE 1 SNV 1 0,1 1 PASS ACC . . 0.5233 0.278 0.5157 0.4895 0.6094 0.6262 0.5365 0.5403 0.4821 89351700 PARP4 . GRCh38 chr13 24455080 24455080 + Missense_Mutation SNP C C T rs2275660 7316-166 BS_ZDSXV5N1 C C c.2695G>A p.Ala899Thr p.A899T ENST00000381989 22/34 72 66 6 46 46 0 PARP4,missense_variant,p.Ala899Thr,ENST00000381989,NM_006437.3;PARP4,downstream_gene_variant,,ENST00000480576,;PARP4,non_coding_transcript_exon_variant,,ENST00000484989,;TPTE2P6,intron_variant,,ENST00000445572,; T ENSG00000102699 ENST00000381989 Transcript missense_variant 2801/5474 2695/5175 899/1724 A/T Gcc/Acc rs2275660,COSM4147649 1 -1 PARP4 HGNC HGNC:271 protein_coding YES CCDS9307.1 ENSP00000371419 Q9UKK3 UPI000013C76E NM_006437.3 deleterious(0.01) probably_damaging(0.999) 22/34 PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF127,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300 0.4463 0.8098 0.6498 0.7763 0.7035 0.5018 0.7701 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 0.7537 0.4876 0.8713 0.7875 0.6863 0.775 0.7698 0.7572 0.7098 24455080 SPERT . GRCh38 chr13 45713882 45713882 + Nonsense_Mutation SNP C C A rs79707842 7316-166 BS_ZDSXV5N1 C C c.857C>A p.Ser286Ter p.S286* ENST00000310521 3/3 91 86 5 37 36 0 SPERT,stop_gained,p.Ser250Ter,ENST00000378966,;SPERT,stop_gained,p.Ser286Ter,ENST00000310521,NM_152719.2;SPERT,stop_gained,p.Ser250Ter,ENST00000610924,NM_001286342.1;SPERT,downstream_gene_variant,,ENST00000533564,NM_001286341.1; A ENSG00000174015 ENST00000310521 Transcript stop_gained 937/1613 857/1347 286/448 S/* tCa/tAa rs79707842,COSM3753708 1 1 SPERT HGNC HGNC:30720 protein_coding YES CCDS9399.1 ENSP00000309189 Q8NA61 A0A140VJV5 UPI0000070F5F NM_152719.2 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR21533:SF13,hmmpanther:PTHR21533 0.0619 0.0068 0.0865 0.0982 0.0875 0.0552 0.009226 0.05486 0,1 HIGH 1 SNV 1 0,1 PASS TCA . . 0.07187 0.007885 0.1022 0.06925 0.1127 0.0473 0.0667 0.06766 0.06188 45713882 ATXN3 . GRCh38 chr14 92083261 92083261 + Splice_Region DEL A A - rs146481848 7316-166 BS_ZDSXV5N1 A A c.476-3del ENST00000558190 64 48 7 35 32 0 ATXN3,splice_region_variant,,ENST00000620536,;ATXN3,splice_region_variant,,ENST00000621269,;ATXN3,splice_region_variant,,ENST00000340660,NM_030660.4;ATXN3,splice_region_variant,,ENST00000393287,NM_001127697.2;ATXN3,splice_region_variant,,ENST00000429774,NM_001164779.1,NM_001164781.1;ATXN3,splice_region_variant,,ENST00000502250,NM_001164780.1;ATXN3,splice_region_variant,,ENST00000503767,NM_001127696.1;ATXN3,splice_region_variant,,ENST00000506466,;ATXN3,splice_region_variant,,ENST00000532032,;ATXN3,splice_region_variant,,ENST00000545170,;ATXN3,splice_region_variant,,ENST00000553491,;ATXN3,splice_region_variant,,ENST00000554592,;ATXN3,splice_region_variant,,ENST00000554672,;ATXN3,splice_region_variant,,ENST00000555381,;ATXN3,splice_region_variant,,ENST00000556220,;ATXN3,splice_region_variant,,ENST00000557311,;ATXN3,splice_region_variant,,ENST00000558190,NM_001164778.1,NM_004993.5;ATXN3,splice_region_variant,,ENST00000617719,;ATXN3,splice_region_variant,,ENST00000644486,;ATXN3,intron_variant,,ENST00000526872,;ATXN3,splice_region_variant,,ENST00000553287,;ATXN3,splice_region_variant,,ENST00000553309,;ATXN3,splice_region_variant,,ENST00000553498,;ATXN3,splice_region_variant,,ENST00000553686,;ATXN3,splice_region_variant,,ENST00000554040,;ATXN3,splice_region_variant,,ENST00000554214,;ATXN3,splice_region_variant,,ENST00000554491,;ATXN3,splice_region_variant,,ENST00000555958,;ATXN3,intron_variant,,ENST00000556339,;ATXN3,intron_variant,,ENST00000556644,;ATXN3,splice_region_variant,,ENST00000359366,;ATXN3,splice_region_variant,,ENST00000515746,;ATXN3,splice_region_variant,,ENST00000553488,;ATXN3,splice_region_variant,,ENST00000553570,;ATXN3,splice_region_variant,,ENST00000554350,;ATXN3,splice_region_variant,,ENST00000554673,;ATXN3,splice_region_variant,,ENST00000554994,;ATXN3,splice_region_variant,,ENST00000555816,;ATXN3,splice_region_variant,,ENST00000556082,;ATXN3,splice_region_variant,,ENST00000556315,;ATXN3,splice_region_variant,,ENST00000556374,;ATXN3,splice_region_variant,,ENST00000556958,;ATXN3,splice_region_variant,,ENST00000557030,;ATXN3,splice_region_variant,,ENST00000646485,;ATXN3,splice_region_variant,,ENST00000647161,;ATXN3,intron_variant,,ENST00000556274,;ATXN3,intron_variant,,ENST00000556288,;ATXN3,intron_variant,,ENST00000556671,;ATXN3,intron_variant,,ENST00000556898,; - ENSG00000066427 ENST00000558190 Transcript splice_region_variant,intron_variant rs146481848,COSM5658224,COSM5658223,COSM1580342 1 -1 ATXN3 HGNC HGNC:7106 protein_coding YES CCDS9900.1 ENSP00000478320 P54252 UPI000013D23A NM_001164778.1,NM_004993.5 6/10 0,1,1,1 LOW 1 deletion 1 0,1,1,1 1 PASS CTAA . . 0.02208 0.01164 0.03548 0.03196 0.01654 0.0218 0.02056 0.0267 0.02403 92083260 BCL2A1 . GRCh38 chr15 79971064 79971064 + Missense_Mutation SNP C C T rs1138357 7316-166 BS_ZDSXV5N1 C C c.56G>A p.Cys19Tyr p.C19Y ENST00000267953 1/2 71 64 5 52 51 0 BCL2A1,missense_variant,p.Cys19Tyr,ENST00000267953,NM_004049.3;BCL2A1,missense_variant,p.Cys19Tyr,ENST00000335661,NM_001114735.1;,regulatory_region_variant,,ENSR00000079888,; T ENSG00000140379 ENST00000267953 Transcript missense_variant 383/1033 56/528 19/175 C/Y tGc/tAc rs1138357,COSM3999620,COSM3999619 1 -1 BCL2A1 HGNC HGNC:991 protein_coding YES CCDS10312.1 ENSP00000267953 Q16548 UPI00001268AE NM_004049.3 tolerated(1) benign(0) 1/2 cd06845,Gene3D:1.10.437.10,Superfamily_domains:SSF56854,hmmpanther:PTHR11256:SF10,hmmpanther:PTHR11256 0.3520 0.2572 0.2767 0.5367 0.2565 0.4417 0.2413 0.257 0,1,1 27618304,27014279,21125265,19001137,21301477,20353833 MODERATE 1 SNV 1 0,1,1 PASS GCA . . 0.3031 0.2535 0.3395 0.2246 0.563 0.2285 0.2543 0.2721 0.4043 79971064 ABAT . GRCh38 chr16 8746097 8746097 + Missense_Mutation SNP A A G rs1731017 7316-166 BS_ZDSXV5N1 A A c.167A>G p.Gln56Arg p.Q56R ENST00000396600 3/16 68 61 6 44 44 0 ABAT,missense_variant,p.Gln56Arg,ENST00000396600,NM_000663.4;ABAT,missense_variant,p.Gln56Arg,ENST00000268251,NM_020686.5;ABAT,missense_variant,p.Gln71Arg,ENST00000567812,;ABAT,missense_variant,p.Gln56Arg,ENST00000425191,NM_001127448.1;ABAT,missense_variant,p.Gln56Arg,ENST00000569156,;ABAT,missense_variant,p.Gln56Arg,ENST00000561870,;ABAT,missense_variant,p.Gln60Arg,ENST00000565016,;ABAT,missense_variant,p.Gln74Arg,ENST00000564714,;ABAT,downstream_gene_variant,,ENST00000568847,;ABAT,splice_region_variant,,ENST00000565671,;ABAT,missense_variant,p.Gln56Arg,ENST00000562115,;ABAT,intron_variant,,ENST00000566590,; G ENSG00000183044 ENST00000396600 Transcript missense_variant,splice_region_variant 1105/5586 167/1503 56/500 Q/R cAg/cGg rs1731017 1 1 ABAT HGNC HGNC:23 protein_coding YES CCDS10534.1 ENSP00000379845 P80404 X5D8S1 UPI000006D4FC NM_000663.4 tolerated(0.61) benign(0) 3/16 PIRSF_domain:PIRSF000521,hmmpanther:PTHR43206,hmmpanther:PTHR43206:SF1,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR00699 0.5008 0.2761 0.6009 0.5992 0.5984 0.5317 0.3407 0.6026 benign 21552517,15830322,27918244,15642443,16675198 MODERATE 1 SNV 5 1 1 PASS CAG . . 0.5924 0.3203 0.6784 0.5376 0.5847 0.6509 0.6126 0.5884 0.5411 8746097 APOBR . GRCh38 chr16 28496124 28496124 + Missense_Mutation SNP G G C rs867873773 7316-166 BS_ZDSXV5N1 G G c.1083G>C p.Glu361Asp p.E361D ENST00000564831 2/4 57 42 14 24 24 0 APOBR,missense_variant,p.Glu361Asp,ENST00000564831,NM_018690.3;APOBR,missense_variant,p.Glu352Asp,ENST00000431282,;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000355477,;IL27,downstream_gene_variant,,ENST00000356897,NM_145659.3;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000357857,NM_001286110.1,NM_001286105.1;CLN3,upstream_gene_variant,,ENST00000359984,NM_000086.2;CLN3,upstream_gene_variant,,ENST00000360019,NM_001286104.1;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000567963,;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000568497,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000631023,;CLN3,upstream_gene_variant,,ENST00000635973,;CLN3,upstream_gene_variant,,ENST00000636147,NM_001042432.1;CLN3,upstream_gene_variant,,ENST00000636228,;CLN3,upstream_gene_variant,,ENST00000637100,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000636355,;CLN3,upstream_gene_variant,,ENST00000637110,;CLN3,upstream_gene_variant,,ENST00000637686,;CLN3,upstream_gene_variant,,ENST00000561505,;CLN3,upstream_gene_variant,,ENST00000561689,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000568076,;AC138894.1,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000628023,;CLN3,upstream_gene_variant,,ENST00000635861,;AC138894.1,upstream_gene_variant,,ENST00000635887,;CLN3,upstream_gene_variant,,ENST00000635958,;AC138894.1,upstream_gene_variant,,ENST00000636017,;AC138894.1,upstream_gene_variant,,ENST00000636078,;CLN3,upstream_gene_variant,,ENST00000636172,;AC138894.1,upstream_gene_variant,,ENST00000636503,;AC138894.1,upstream_gene_variant,,ENST00000636766,;CLN3,upstream_gene_variant,,ENST00000636839,;CLN3,upstream_gene_variant,,ENST00000636853,;AC138894.1,upstream_gene_variant,,ENST00000636866,;CLN3,upstream_gene_variant,,ENST00000636977,;CLN3,upstream_gene_variant,,ENST00000637107,;CLN3,upstream_gene_variant,,ENST00000637184,;AC138894.1,upstream_gene_variant,,ENST00000637299,;AC138894.1,upstream_gene_variant,,ENST00000637376,;CLN3,upstream_gene_variant,,ENST00000637578,;CLN3,upstream_gene_variant,,ENST00000637699,;CLN3,upstream_gene_variant,,ENST00000637871,;CLN3,upstream_gene_variant,,ENST00000637985,; C ENSG00000184730 ENST00000564831 Transcript missense_variant 1116/3792 1083/3294 361/1097 E/D gaG/gaC rs867873773,COSM969464,COSM4128891 1 1 APOBR HGNC HGNC:24087 protein_coding YES CCDS58442.1 ENSP00000457539 Q0VD83 UPI000013EFFC NM_018690.3 tolerated(0.05) benign(0.005) 2/4 hmmpanther:PTHR15964,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGG . . 6.783e-05 6e-05 8.317e-05 0.0002034 28496124 APOBR . GRCh38 chr16 28496131 28496131 + Missense_Mutation SNP G G T rs370148393 7316-166 BS_ZDSXV5N1 G G c.1090G>T p.Gly364Trp p.G364W ENST00000564831 2/4 54 43 9 29 29 0 APOBR,missense_variant,p.Gly364Trp,ENST00000564831,NM_018690.3;APOBR,missense_variant,p.Gly355Trp,ENST00000431282,;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000355477,;IL27,downstream_gene_variant,,ENST00000356897,NM_145659.3;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000357857,NM_001286110.1,NM_001286105.1;CLN3,upstream_gene_variant,,ENST00000359984,NM_000086.2;CLN3,upstream_gene_variant,,ENST00000360019,NM_001286104.1;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000567963,;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000568497,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000631023,;CLN3,upstream_gene_variant,,ENST00000635973,;CLN3,upstream_gene_variant,,ENST00000636147,NM_001042432.1;CLN3,upstream_gene_variant,,ENST00000636228,;CLN3,upstream_gene_variant,,ENST00000637100,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000636355,;CLN3,upstream_gene_variant,,ENST00000637110,;CLN3,upstream_gene_variant,,ENST00000637686,;CLN3,upstream_gene_variant,,ENST00000561505,;CLN3,upstream_gene_variant,,ENST00000561689,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000568076,;AC138894.1,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000628023,;CLN3,upstream_gene_variant,,ENST00000635861,;AC138894.1,upstream_gene_variant,,ENST00000635887,;CLN3,upstream_gene_variant,,ENST00000635958,;AC138894.1,upstream_gene_variant,,ENST00000636017,;AC138894.1,upstream_gene_variant,,ENST00000636078,;CLN3,upstream_gene_variant,,ENST00000636172,;AC138894.1,upstream_gene_variant,,ENST00000636503,;AC138894.1,upstream_gene_variant,,ENST00000636766,;CLN3,upstream_gene_variant,,ENST00000636839,;CLN3,upstream_gene_variant,,ENST00000636853,;AC138894.1,upstream_gene_variant,,ENST00000636866,;CLN3,upstream_gene_variant,,ENST00000636977,;CLN3,upstream_gene_variant,,ENST00000637107,;CLN3,upstream_gene_variant,,ENST00000637184,;AC138894.1,upstream_gene_variant,,ENST00000637299,;AC138894.1,upstream_gene_variant,,ENST00000637376,;CLN3,upstream_gene_variant,,ENST00000637578,;CLN3,upstream_gene_variant,,ENST00000637699,;CLN3,upstream_gene_variant,,ENST00000637871,;CLN3,upstream_gene_variant,,ENST00000637985,; T ENSG00000184730 ENST00000564831 Transcript missense_variant 1123/3792 1090/3294 364/1097 G/W Ggg/Tgg rs370148393,COSM4128892,COSM1377135 1 1 APOBR HGNC HGNC:24087 protein_coding YES CCDS58442.1 ENSP00000457539 Q0VD83 UPI000013EFFC NM_018690.3 tolerated(0.05) benign(0.082) 2/4 hmmpanther:PTHR15964,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGG . . 28496131 APOBR . GRCh38 chr16 28496137 28496137 + Missense_Mutation SNP G G A rs866767366 7316-166 BS_ZDSXV5N1 G G c.1096G>A p.Ala366Thr p.A366T ENST00000564831 2/4 52 44 7 29 29 0 APOBR,missense_variant,p.Ala366Thr,ENST00000564831,NM_018690.3;APOBR,missense_variant,p.Ala357Thr,ENST00000431282,;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000355477,;IL27,downstream_gene_variant,,ENST00000356897,NM_145659.3;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000357857,NM_001286110.1,NM_001286105.1;CLN3,upstream_gene_variant,,ENST00000359984,NM_000086.2;CLN3,upstream_gene_variant,,ENST00000360019,NM_001286104.1;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000567963,;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000568497,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000631023,;CLN3,upstream_gene_variant,,ENST00000635973,;CLN3,upstream_gene_variant,,ENST00000636147,NM_001042432.1;CLN3,upstream_gene_variant,,ENST00000636228,;CLN3,upstream_gene_variant,,ENST00000637100,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000636355,;CLN3,upstream_gene_variant,,ENST00000637110,;CLN3,upstream_gene_variant,,ENST00000637686,;CLN3,upstream_gene_variant,,ENST00000561505,;CLN3,upstream_gene_variant,,ENST00000561689,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000568076,;AC138894.1,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000628023,;CLN3,upstream_gene_variant,,ENST00000635861,;AC138894.1,upstream_gene_variant,,ENST00000635887,;CLN3,upstream_gene_variant,,ENST00000635958,;AC138894.1,upstream_gene_variant,,ENST00000636017,;AC138894.1,upstream_gene_variant,,ENST00000636078,;CLN3,upstream_gene_variant,,ENST00000636172,;AC138894.1,upstream_gene_variant,,ENST00000636503,;AC138894.1,upstream_gene_variant,,ENST00000636766,;CLN3,upstream_gene_variant,,ENST00000636839,;CLN3,upstream_gene_variant,,ENST00000636853,;AC138894.1,upstream_gene_variant,,ENST00000636866,;CLN3,upstream_gene_variant,,ENST00000636977,;CLN3,upstream_gene_variant,,ENST00000637107,;CLN3,upstream_gene_variant,,ENST00000637184,;AC138894.1,upstream_gene_variant,,ENST00000637299,;AC138894.1,upstream_gene_variant,,ENST00000637376,;CLN3,upstream_gene_variant,,ENST00000637578,;CLN3,upstream_gene_variant,,ENST00000637699,;CLN3,upstream_gene_variant,,ENST00000637871,;CLN3,upstream_gene_variant,,ENST00000637985,; A ENSG00000184730 ENST00000564831 Transcript missense_variant 1129/3792 1096/3294 366/1097 A/T Gcc/Acc rs866767366,COSM4597641,COSM3746404 1 1 APOBR HGNC HGNC:24087 protein_coding YES CCDS58442.1 ENSP00000457539 Q0VD83 UPI000013EFFC NM_018690.3 tolerated(0.95) benign(0.103) 2/4 hmmpanther:PTHR15964,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGC . . 28496137 SYCE1L . GRCh38 chr16 77212620 77212620 + Missense_Mutation SNP C C A rs62049594 7316-166 BS_ZDSXV5N1 C C c.628C>A p.Pro210Thr p.P210T ENST00000378644 10/11 81 76 5 33 33 0 SYCE1L,missense_variant,p.Pro210Thr,ENST00000378644,NM_001129979.1;SYCE1L,missense_variant,p.Pro10Thr,ENST00000563157,;AC009139.2,intron_variant,,ENST00000569032,;SYCE1L,non_coding_transcript_exon_variant,,ENST00000568925,;,regulatory_region_variant,,ENSR00000088063,; A ENSG00000205078 ENST00000378644 Transcript missense_variant 683/858 628/729 210/242 P/T Ccc/Acc rs62049594,COSM435800 1 1 SYCE1L HGNC HGNC:37236 protein_coding YES CCDS45533.1 ENSP00000367911 A8MT33 UPI000025210F NM_001129979.1 tolerated(0.17) benign(0.118) 10/11 hmmpanther:PTHR21731,hmmpanther:PTHR21731:SF1,mobidb-lite,Low_complexity_(Seg):seg 0.2049 0.0318 0.2435 0.1339 0.4175 0.2658 0.09402 0.3797 0,1 MODERATE 1 SNV 5 0,1 PASS CCC . . 0.308 0.07973 0.224 0.3747 0.1406 0.4491 0.3973 0.3126 0.2659 77212620 PFAS . GRCh38 chr17 8257831 8257831 + Missense_Mutation SNP C C T rs4791641 7316-166 BS_ZDSXV5N1 C C c.1100C>T p.Pro367Leu p.P367L ENST00000314666 10/28 82 77 5 38 38 0 PFAS,missense_variant,p.Pro367Leu,ENST00000314666,NM_012393.2;PFAS,downstream_gene_variant,,ENST00000581242,;PFAS,downstream_gene_variant,,ENST00000584044,;PFAS,downstream_gene_variant,,ENST00000585183,;PFAS,downstream_gene_variant,,ENST00000625942,;PFAS,upstream_gene_variant,,ENST00000585319,;PFAS,3_prime_UTR_variant,,ENST00000580356,; T ENSG00000178921 ENST00000314666 Transcript missense_variant 1233/5371 1100/4017 367/1338 P/L cCa/cTa rs4791641,CM067707,COSM3766235 1 1 PFAS HGNC HGNC:8863 protein_coding YES CCDS11136.1 ENSP00000313490 O15067 UPI00001A95E5 NM_012393.2 tolerated(0.18) benign(0.003) 10/28 HAMAP:MF_00419,cd02203,hmmpanther:PTHR10099,hmmpanther:PTHR10099:SF1,TIGRFAM_domain:TIGR01735,Gene3D:3.30.1330.10,Superfamily_domains:SSF55326 0.3389 0.2292 0.3184 0.2272 0.5288 0.4213 0.2792 0.4887 0,0,1 26780889 MODERATE 1 SNV 1 1,1,1 PASS CCA . . 0.4329 0.2619 0.2751 0.3676 0.2322 0.6072 0.5051 0.4325 0.4349 8257831 HAP1 . GRCh38 chr17 41734624 41734624 + Missense_Mutation SNP T T C rs4796604 7316-166 BS_ZDSXV5N1 T T c.11A>G p.Lys4Arg p.K4R ENST00000347901 1/11 74 69 5 40 40 0 HAP1,missense_variant,p.Lys4Arg,ENST00000393939,NM_001079871.1;HAP1,missense_variant,p.Lys4Arg,ENST00000310778,;HAP1,missense_variant,p.Lys4Arg,ENST00000347901,NM_177977.2;HAP1,missense_variant,p.Lys4Arg,ENST00000341193,NM_001079870.1;RN7SL399P,upstream_gene_variant,,ENST00000471648,;,regulatory_region_variant,,ENSR00000094282,; C ENSG00000173805 ENST00000347901 Transcript missense_variant 21/3931 11/1860 4/619 K/R aAg/aGg rs4796604,COSM3749402,COSM3749401 1 -1 HAP1 HGNC HGNC:4812 protein_coding YES CCDS11406.1 ENSP00000334002 P54257 UPI000024700D NM_177977.2 tolerated_low_confidence(0.13) benign(0.007) 1/11 mobidb-lite 0.5471 0.2897 0.5965 0.7073 0.5 0.7434 0.2796 0.4481 0,1,1 MODERATE 1 SNV 1 1,1,1 PASS CTT . . 0.5516 0.3123 0.6141 0.4478 0.7037 0.5387 0.5055 0.5306 0.6751 41734624 SKAP1 . GRCh38 chr17 48184809 48184809 + Missense_Mutation SNP C C T rs2278868 7316-166 BS_ZDSXV5N1 C C c.481G>A p.Gly161Ser p.G161S ENST00000336915 7/13 71 64 7 33 33 0 SKAP1,missense_variant,p.Gly161Ser,ENST00000336915,NM_001075099.1,NM_003726.3;SKAP1,missense_variant,p.Gly161Ser,ENST00000584924,;SKAP1,5_prime_UTR_variant,,ENST00000579336,;SKAP1-AS1,upstream_gene_variant,,ENST00000582246,;SKAP1,3_prime_UTR_variant,,ENST00000584709,;SKAP1,3_prime_UTR_variant,,ENST00000581419,;SKAP1,intron_variant,,ENST00000581400,;,regulatory_region_variant,,ENSR00000095283,; T ENSG00000141293 ENST00000336915 Transcript missense_variant 551/1534 481/1080 161/359 G/S Ggt/Agt rs2278868,COSM1179686 1 -1 SKAP1 HGNC HGNC:15605 protein_coding YES CCDS32674.1 ENSP00000338171 Q86WV1 UPI0000200EFD NM_001075099.1,NM_003726.3 tolerated(1) benign(0) 7/13 Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR15129,hmmpanther:PTHR15129:SF1,SMART_domains:SM00233,Superfamily_domains:SSF50729,cd13380 0.607 0.357 0.6484 0.7827 0.5885 0.7536 0.3981 0.6034 0,1 19455149,28900119 MODERATE 1 SNV 1 0,1 PASS CCG . . 0.6288 0.3847 0.7211 0.5708 0.7566 0.6179 0.5999 0.6106 0.7123 48184809 EME1 . GRCh38 chr17 50378832 50378832 + Missense_Mutation SNP T T C rs12450550 7316-166 BS_ZDSXV5N1 T T c.1049T>C p.Ile350Thr p.I350T ENST00000393271 5/9 72 65 7 40 39 1 EME1,missense_variant,p.Ile350Thr,ENST00000393271,NM_001166131.1;EME1,missense_variant,p.Ile350Thr,ENST00000338165,NM_152463.2;EME1,missense_variant,p.Ile350Thr,ENST00000511648,;EME1,missense_variant,p.Ile162Thr,ENST00000510246,;LRRC59,intron_variant,,ENST00000503118,;LRRC59,downstream_gene_variant,,ENST00000225972,NM_018509.3;EME1,downstream_gene_variant,,ENST00000511519,;EME1,non_coding_transcript_exon_variant,,ENST00000510007,;EME1,non_coding_transcript_exon_variant,,ENST00000513077,;EME1,upstream_gene_variant,,ENST00000507616,;EME1,downstream_gene_variant,,ENST00000511711,;EME1,upstream_gene_variant,,ENST00000514211,; C ENSG00000154920 ENST00000393271 Transcript missense_variant 1131/2354 1049/1752 350/583 I/T aTc/aCc rs12450550,CM088414,COSM148297 1 1 EME1 HGNC HGNC:24965 protein_coding YES CCDS54141.1 ENSP00000376952 Q96AY2 UPI00001AEAC6 NM_001166131.1 tolerated(0.08) benign(0.292) 5/9 hmmpanther:PTHR21077:SF7,hmmpanther:PTHR21077,Pfam_domain:PF02732,SMART_domains:SM00891 0.1426 0.0416 0.2911 0.0804 0.2445 0.1329 0.08103 0.2609 0,0,1 18559551,18984625,27613841 MODERATE SNV 5 0,1,1 PASS ATC . . 0.228 0.07952 0.29 0.1483 0.07334 0.3093 0.2723 0.2148 0.1287 50378832 SMCHD1 . GRCh38 chr18 2707621 2707621 + Missense_Mutation SNP G G A rs2276092 7316-166 BS_ZDSXV5N1 G G c.2122G>A p.Val708Ile p.V708I ENST00000320876 16/48 80 74 5 36 36 0 SMCHD1,missense_variant,p.Val708Ile,ENST00000320876,NM_015295.2;AP001011.1,intron_variant,,ENST00000583546,;SMCHD1,missense_variant,p.Val179Ile,ENST00000577880,;SMCHD1,missense_variant,p.Val30Ile,ENST00000584897,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000581711,;SMCHD1,downstream_gene_variant,,ENST00000577300,; A ENSG00000101596 ENST00000320876 Transcript missense_variant 2460/8821 2122/6018 708/2005 V/I Gtt/Att rs2276092,COSM3932818,COSM3932817,COSM3932816 1 1 SMCHD1 HGNC HGNC:29090 protein_coding YES CCDS45822.1 ENSP00000326603 A6NHR9 UPI00001D7AAD NM_015295.2 tolerated(0.84) benign(0) 16/48 hmmpanther:PTHR22640 0.6903 0.7141 0.7839 0.6528 0.6909 0.6299 0.7305 0.7031 benign 0,1,1,1 25741868,28067909 MODERATE SNV 5 0,1,1,1 1 PASS GGT . . 0.6958 0.722 0.7956 0.6624 0.6088 0.6433 0.7052 0.7072 0.6356 2707621 RAB31 . GRCh38 chr18 9775365 9775365 + Splice_Region SNP C C T rs149779563 7316-166 BS_ZDSXV5N1 C C c.119+8C>T ENST00000578921 78 73 5 45 45 0 RAB31,splice_region_variant,,ENST00000578921,NM_006868.3;RAB31,splice_region_variant,,ENST00000435762,;RAB31,splice_region_variant,,ENST00000581109,;RAB31,intron_variant,,ENST00000578734,;,regulatory_region_variant,,ENSR00000100607,; T ENSG00000168461 ENST00000578921 Transcript splice_region_variant,intron_variant rs149779563 1 1 RAB31 HGNC HGNC:9771 protein_coding YES CCDS45826.1 ENSP00000461945 Q13636 UPI00000729DB NM_006868.3 2/6 0.0106 0.0058 0.0169 0.0327 0.002488 0.01673 LOW 1 SNV 1 PASS TCC . . 0.01568 0.002942 0.008192 0.009651 0.0001161 0.01368 0.01932 0.01387 0.0294 9775365 BRWD1 . GRCh38 chr21 39198987 39198987 + Missense_Mutation SNP G G A rs376668199 7316-166 BS_ZDSXV5N1 G G c.5429C>T p.Ala1810Val p.A1810V ENST00000333229 40/42 87 50 37 54 54 0 BRWD1,missense_variant,p.Ala1810Val,ENST00000342449,NM_033656.3;BRWD1,missense_variant,p.Ala1810Val,ENST00000333229,NM_018963.4;BRWD1,missense_variant,p.Ala1810Val,ENST00000380800,;BRWD1,downstream_gene_variant,,ENST00000424441,;BRWD1,3_prime_UTR_variant,,ENST00000446924,;BRWD1,downstream_gene_variant,,ENST00000491564,; A ENSG00000185658 ENST00000333229 Transcript missense_variant 5757/10141 5429/6963 1810/2320 A/V gCg/gTg rs376668199 1 -1 BRWD1 HGNC HGNC:12760 protein_coding YES CCDS13662.1 ENSP00000330753 Q9NSI6 UPI0000163C12 NM_018963.4 tolerated_low_confidence(0.13) benign(0.001) 40/42 hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF26 0.0001163 MODERATE 1 SNV 1 PASS CGC . . 6.93e-05 0.0001308 5.8e-05 0.0001263 39198987 UMODL1 . GRCh38 chr21 42090327 42090327 + Missense_Mutation SNP A A C rs17114359 7316-166 BS_ZDSXV5N1 A A c.820A>C p.Asn274His p.N274H ENST00000408989 6/22 75 70 5 35 35 0 UMODL1,missense_variant,p.Asn202His,ENST00000400424,NM_001199528.2;UMODL1,missense_variant,p.Asn202His,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Asn274His,ENST00000408989,NM_173568.3;UMODL1,missense_variant,p.Asn274His,ENST00000408910,NM_001004416.2;UMODL1,missense_variant,p.Asn110His,ENST00000466434,;UMODL1,missense_variant,p.Asn110His,ENST00000400421,;UMODL1,synonymous_variant,p.Ser107=,ENST00000491559,;UMODL1,synonymous_variant,p.Ser47=,ENST00000485357,;UMODL1,3_prime_UTR_variant,,ENST00000468982,;UMODL1,intron_variant,,ENST00000497243,; C ENSG00000177398 ENST00000408989 Transcript missense_variant 820/5262 820/4341 274/1446 N/H Aat/Cat rs17114359,COSM1414242,COSM1414241 1 1 UMODL1 HGNC HGNC:12560 protein_coding YES CCDS42935.1 ENSP00000386126 Q5DID0 UPI0000D6254B NM_173568.3 tolerated(0.22) benign(0.12) 6/22 cd00054,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00179,Superfamily_domains:SSF57196,hmmpanther:PTHR45146,PROSITE_patterns:PS01187 0.2408 0.0832 0.281 0.374 0.2018 0.3282 0.08672 0.207 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CAA . . 0.2444 0.09005 0.3172 0.1664 0.346 0.2611 0.2076 0.2215 0.3349 42090327 SSX3 . GRCh38 chrX 48354751 48354751 + Splice_Region DEL A A - rs782293469 7316-166 BS_ZDSXV5N1 A A c.70-5del ENST00000298396 32 19 6 18 11 0 SSX3,splice_region_variant,,ENST00000298396,NM_021014.3;SSX3,splice_region_variant,,ENST00000376893,;SSX3,splice_region_variant,,ENST00000612497,;SSX3,upstream_gene_variant,,ENST00000376895,;AL606490.1,upstream_gene_variant,,ENST00000452266,; - ENSG00000165584 ENST00000298396 Transcript splice_region_variant,intron_variant rs782293469,COSM5943321,COSM5943320 1 -1 SSX3 HGNC HGNC:11337 protein_coding YES CCDS14291.1 ENSP00000298396 Q99909 UPI000013E4CD NM_021014.3 2/7 0.2130 0,1,1 LOW 1 deletion 1 0,1,1 PASS ACAA . . 0.324 0.2243 0.3973 0.3824 0.3356 0.228 0.3212 0.3586 0.3528 48354750 SSXP1 . GRCh38 chrX 52611260 52611261 + Splice_Region INS - - A rs1264996254 7316-166 BS_ZDSXV5N1 - - n.70-8dup ENST00000453640 36 21 8 14 14 0 SSXP1,splice_region_variant,,ENST00000453640,;AL450023.2,upstream_gene_variant,,ENST00000453276,; A ENSG00000197185 ENST00000453640 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1264996254 1 -1 SSXP1 HGNC HGNC:30637 unprocessed_pseudogene YES 1/4 LOW 1 insertion PASS AGA . . 52611260 PAGE2 . GRCh38 chrX 55090033 55090033 + Missense_Mutation SNP C C G rs1845444 7316-166 BS_ZDSXV5N1 C C c.13C>G p.Leu5Val p.L5V ENST00000374968 2/5 50 43 7 30 29 1 PAGE2,missense_variant,p.Leu5Val,ENST00000374968,NM_207339.3;PAGE2,missense_variant,p.Leu5Val,ENST00000374965,;PAGE2,missense_variant,p.Leu5Val,ENST00000449097,; G ENSG00000234068 ENST00000374968 Transcript missense_variant 117/551 13/336 5/111 L/V Cta/Gta rs1845444 1 1 PAGE2 HGNC HGNC:31804 protein_coding YES CCDS14367.1 ENSP00000364107 Q7Z2X7 UPI0000160CEC NM_207339.3 tolerated(1) benign(0) 2/5 Pfam_domain:PF05831,hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF17,SMART_domains:SM01379,mobidb-lite 0.9335 0.7807 0.979 1 0.9948 0.9777 0.7984 0.9943 MODERATE 1 SNV 1 PASS TCT . . 0.9799 0.8015 0.9879 0.991 1 0.9982 0.9951 0.9863 0.982 55090033 OXCT2 . GRCh38 chr1 39771222 39771222 + Missense_Mutation SNP C C G rs766449279 7316-189 BS_GFKX8YM0 C C c.34G>C p.Gly12Arg p.G12R ENST00000327582 1/1 65 51 13 21 20 0 OXCT2,missense_variant,p.Gly12Arg,ENST00000327582,NM_022120.1;BMP8B,intron_variant,,ENST00000372827,NM_001720.3;,regulatory_region_variant,,ENSR00000005113,; G ENSG00000198754 ENST00000327582 Transcript missense_variant 127/1826 34/1554 12/517 G/R Ggg/Cgg rs766449279 1 -1 OXCT2 HGNC HGNC:18606 protein_coding YES CCDS445.1 ENSP00000361914 Q9BYC2 UPI000006DF0A NM_022120.1 tolerated(0.71) benign(0.001) 1/1 PROSITE_profiles:PS51257 MODERATE SNV PASS CCG . . 0.0009345 0.01563 0.0005213 2.967e-05 0.001081 39771222 TRMT1L . GRCh38 chr1 185151939 185151939 + Splice_Region DEL A A - rs770063955 7316-189 BS_GFKX8YM0 A A c.236-4del ENST00000367506 83 70 6 44 38 0 TRMT1L,splice_region_variant,,ENST00000367506,NM_001202423.1,NM_030934.4;TRMT1L,splice_region_variant,,ENST00000487028,; - ENSG00000121486 ENST00000367506 Transcript splice_region_variant,intron_variant rs770063955,TMP_ESP_1_185121071_185121071 1 -1 TRMT1L HGNC HGNC:16782 protein_coding YES CCDS1366.1 ENSP00000356476 Q7Z2T5 UPI000000DADB NM_001202423.1,NM_030934.4 1/14 0.01008 0.008725 LOW 1 deletion 1 PASS TGAA . . 0.002841 0.002796 0.006163 0.002584 0.003575 0.0007063 0.002447 0.005673 0.00328 185151938 OR2T34 . GRCh38 chr1 248574042 248574042 + Missense_Mutation SNP C C T rs61833441 7316-189 BS_GFKX8YM0 C C c.716G>A p.Arg239His p.R239H ENST00000328782 1/1 52 37 15 32 27 1 OR2T34,missense_variant,p.Arg239His,ENST00000328782,NM_001001821.1;,regulatory_region_variant,,ENSR00000257764,; T ENSG00000183310 ENST00000328782 Transcript missense_variant 716/957 716/957 239/318 R/H cGc/cAc rs61833441,COSM3997432 1 -1 OR2T34 HGNC HGNC:31256 protein_coding YES CCDS31120.1 ENSP00000330904 Q8NGX1 UPI0000061ED4 NM_001001821.1 deleterious(0.04) benign(0.082) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,SMART_domains:SM01381,Superfamily_domains:SSF81321,cd15421 0,1 MODERATE 1 SNV 0,1 PASS GCG . . 0.1604 0.2248 0.2344 0.1078 0.2931 0.1478 0.1114 0.1397 0.2153 248574042 RBM5 . GRCh38 chr3 50118455 50118456 + Frame_Shift_Del DEL GA GA - rs112672304 7316-189 BS_GFKX8YM0 GA GA c.*19_*20del ENST00000347869 25/25 68 48 9 31 27 0 RBM5,frameshift_variant,,ENST00000347869,NM_005778.3;SEMA3F-AS1,intron_variant,,ENST00000425674,;SEMA3F-AS1,intron_variant,,ENST00000437204,;RBM5,downstream_gene_variant,,ENST00000441812,;RBM5,downstream_gene_variant,,ENST00000474470,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000464988,;RBM5,downstream_gene_variant,,ENST00000461242,;RBM5,downstream_gene_variant,,ENST00000475128,;RBM5,downstream_gene_variant,,ENST00000475590,;RBM5,downstream_gene_variant,,ENST00000479275,;RBM5,downstream_gene_variant,,ENST00000492430,;RBM5,downstream_gene_variant,,ENST00000493993,; - ENSG00000003756 ENST00000347869 Transcript frameshift_variant,stop_lost 2622-2623/3188 2447-2448/2448 816/815 */X tGA/t rs112672304,COSM446742 1 1 RBM5 HGNC HGNC:9902 protein_coding YES CCDS2810.1 ENSP00000343054 P52756 A0A024R2U6 UPI000013337C NM_005778.3 25/25 0,1 HIGH 1 deletion 1 20 0,1 PASS GTGAG . . 0.3703 0.3833 0.2048 0.4303 0.417 0.3399 0.4031 0.3731 0.4404 50118454 ADCY1 . GRCh38 chr7 45677908 45677908 + Missense_Mutation SNP C C T rs746570916 7316-189 BS_GFKX8YM0 C C c.1645C>T p.Arg549Cys p.R549C ENST00000297323 9/20 64 54 10 38 35 0 ADCY1,missense_variant,p.Arg549Cys,ENST00000297323,NM_021116.2;ADCY1,non_coding_transcript_exon_variant,,ENST00000646653,; T ENSG00000164742 ENST00000297323 Transcript missense_variant 1667/12503 1645/3360 549/1119 R/C Cgc/Tgc rs746570916,COSM6548235 1 1 ADCY1 HGNC HGNC:232 protein_coding YES CCDS34631.1 ENSP00000297323 Q08828 UPI0000199C4A NM_021116.2 deleterious(0) benign(0.069) 9/20 hmmpanther:PTHR11920:SF299,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050 0,1 MODERATE 1 SNV 1 0,1 1 PASS CCG . . 1.626e-05 2.978e-05 9.75e-05 45677908 TYW1B . GRCh38 chr7 72616824 72616824 + Missense_Mutation SNP T T C rs201876441 7316-189 BS_GFKX8YM0 T T c.1633A>G p.Arg545Gly p.R545G ENST00000620995 13/14 106 88 17 38 38 0 TYW1B,missense_variant,p.Arg545Gly,ENST00000620995,NM_001145440.2;TYW1B,missense_variant,p.Arg383Gly,ENST00000612372,; C ENSG00000277149 ENST00000620995 Transcript missense_variant 1756/3113 1633/2007 545/668 R/G Aga/Gga rs201876441 1 -1 TYW1B HGNC HGNC:33908 protein_coding YES CCDS69309.1 ENSP00000482502 Q6NUM6 UPI000178DF1B NM_001145440.2 tolerated(1) benign(0) 13/14 Gene3D:3.20.20.70,Pfam_domain:PF08608,hmmpanther:PTHR13930 MODERATE 1 SNV 1 PASS CTG . . 0.0004903 0.001105 0.0006729 0.0003359 0.0002764 0.0003499 0.0008035 0.0009917 72616824 TNKS2 . GRCh38 chr10 91842188 91842189 + Frame_Shift_Ins INS - - A rs780353534 7316-189 BS_GFKX8YM0 - - c.1865dup p.Asn622LysfsTer12 p.N622Kfs*12 ENST00000371627 16/27 80 67 8 41 37 0 TNKS2,frameshift_variant,p.Asn622LysfsTer12,ENST00000371627,NM_025235.3; A ENSG00000107854 ENST00000371627 Transcript frameshift_variant 2235-2236/6157 1856-1857/3501 619/1166 T/TX aca/acAa rs780353534 1 1 TNKS2 HGNC HGNC:15677 protein_coding YES CCDS7417.1 ENSP00000360689 Q9H2K2 UPI00000362BE NM_025235.3 16/27 Gene3D:1.25.40.20,PDB-ENSP_mappings:3twq.A,PDB-ENSP_mappings:3twq.B,PDB-ENSP_mappings:3twr.A,PDB-ENSP_mappings:3twr.B,PDB-ENSP_mappings:3twr.C,PDB-ENSP_mappings:3twr.D,PDB-ENSP_mappings:3tws.A,PDB-ENSP_mappings:3tws.B,PDB-ENSP_mappings:3tws.C,PDB-ENSP_mappings:3tws.D,PDB-ENSP_mappings:3twt.A,PDB-ENSP_mappings:3twt.B,PDB-ENSP_mappings:3twt.C,PDB-ENSP_mappings:3twt.D,PDB-ENSP_mappings:3twu.A,PDB-ENSP_mappings:3twv.A,PDB-ENSP_mappings:3twv.B,PDB-ENSP_mappings:3twv.C,PDB-ENSP_mappings:3twv.D,PDB-ENSP_mappings:3tww.A,PDB-ENSP_mappings:3tww.B,PDB-ENSP_mappings:3twx.A,PDB-ENSP_mappings:3twx.B,PDB-ENSP_mappings:4z68.A,PDB-ENSP_mappings:5bxo.A,PDB-ENSP_mappings:5bxo.B,PDB-ENSP_mappings:5bxu.A,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,SMART_domains:SM00248,Superfamily_domains:SSF48403,cd00204 HIGH 1 insertion 1 9 PASS ACA . . 0.0004606 0.0004763 0.0006939 0.0006681 0.0002947 0.0006379 0.0003384 0.0009474 0.0004721 91842188 MUC5AC . GRCh38 chr11 1186842 1186842 + Missense_Mutation SNP A A C rs1417504920 7316-189 BS_GFKX8YM0 A A c.8697A>C p.Arg2899Ser p.R2899S ENST00000621226 31/49 104 82 15 33 31 0 MUC5AC,missense_variant,p.Arg2899Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 8744/17448 8697/16965 2899/5654 R/S agA/agC rs1417504920 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated_low_confidence(0.74) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GAA . . 1186842 MUC5AC . GRCh38 chr11 1191173 1191173 + Missense_Mutation SNP G G C rs1280163877 7316-189 BS_GFKX8YM0 G G c.13028G>C p.Ser4343Thr p.S4343T ENST00000621226 31/49 68 53 10 33 32 0 MUC5AC,missense_variant,p.Ser4343Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 13075/17448 13028/16965 4343/5654 S/T aGt/aCt rs1280163877 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.38) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AGT . . 1191173 USP15 . GRCh38 chr12 62417178 62417179 + Frame_Shift_Ins INS - - A rs762644372 7316-189 BS_GFKX8YM0 - - c.453dup p.Glu152ArgfsTer30 p.E152Rfs*30 ENST00000549415 5/5 78 63 6 18 15 0 USP15,frameshift_variant,p.Glu152ArgfsTer30,ENST00000549415,;USP15,downstream_gene_variant,,ENST00000353364,NM_006313.2; A ENSG00000135655 ENST00000549415 Transcript frameshift_variant 450-451/703 450-451/474 150-151/157 -/X -/A rs762644372 1 1 USP15 HGNC HGNC:12613 protein_coding ENSP00000448372 H0YI26 UPI00020CE441 5/5 PROSITE_profiles:PS50235,Gene3D:3.90.70.10 HIGH insertion 3 3 PASS GGA . . 0.003502 0.01791 0.00296 0.00169 0.003253 0.002278 0.003091 0.004273 0.002375 62417178 GOLGA6D . GRCh38 chr15 75294026 75294026 + Splice_Region SNP G G A rs774313825 7316-189 BS_GFKX8YM0 G G c.1800+8G>A ENST00000434739 45 33 12 19 17 0 GOLGA6D,splice_region_variant,,ENST00000434739,NM_001145224.1;GOLGA6D,splice_region_variant,,ENST00000618219,;RN7SL327P,downstream_gene_variant,,ENST00000488659,; A ENSG00000140478 ENST00000434739 Transcript splice_region_variant,intron_variant rs774313825,COSM3765819 1 1 GOLGA6D HGNC HGNC:32204 protein_coding YES CCDS45308.1 ENSP00000391085 P0CG33 UPI00001AEE2C NM_001145224.1 16/17 0,1 LOW 1 SNV 1 0,1 PASS CGT . . 0.05071 0.09396 0.1044 0.03886 0.06904 0.006135 0.01517 0.04454 0.01972 75294026 ACSF3 . GRCh38 chr16 89112086 89112086 + Splice_Region SNP T T C rs76096111 7316-189 BS_GFKX8YM0 T T c.823-6T>C ENST00000614302 61 56 5 21 20 0 ACSF3,splice_region_variant,,ENST00000317447,;ACSF3,splice_region_variant,,ENST00000378345,NM_001284316.1;ACSF3,splice_region_variant,,ENST00000406948,;ACSF3,splice_region_variant,,ENST00000537895,;ACSF3,splice_region_variant,,ENST00000538340,;ACSF3,splice_region_variant,,ENST00000540697,;ACSF3,splice_region_variant,,ENST00000543676,;ACSF3,splice_region_variant,,ENST00000544543,;ACSF3,splice_region_variant,,ENST00000614302,NM_001127214.3,NM_001243279.2,NM_174917.4;AC135782.3,downstream_gene_variant,,ENST00000562782,;ACSF3,upstream_gene_variant,,ENST00000562204,;ACSF3,splice_region_variant,,ENST00000542688,; C ENSG00000176715 ENST00000614302 Transcript splice_region_variant,intron_variant rs76096111,COSM1609786 1 1 ACSF3 HGNC HGNC:27288 protein_coding YES CCDS10974.1 ENSP00000479130 Q4G176 UPI00001AF19E NM_001127214.3,NM_001243279.2,NM_174917.4 4/10 benign 0,1 LOW 1 SNV 5 0,1 1 PASS TTC . . 5.824e-06 0.000118 89112086 KRTAP10-11 . GRCh38 chr21 44647009 44647009 + Missense_Mutation SNP A A G rs587598057 7316-189 BS_GFKX8YM0 A A c.551A>G p.Tyr184Cys p.Y184C ENST00000334670 1/1 81 65 13 40 36 0 KRTAP10-11,missense_variant,p.Tyr184Cys,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000642437,; G ENSG00000243489 ENST00000334670 Transcript missense_variant 596/1237 551/897 184/298 Y/C tAc/tGc rs587598057 1 1 KRTAP10-11 HGNC HGNC:20528 protein_coding YES CCDS42962.1 ENSP00000334197 P60412 UPI000040FC94 NM_198692.2 tolerated(1) benign(0) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF125 0.0014 0.0015 0.001 0.0041 MODERATE SNV PASS TAC . . 8.537e-05 0.0005804 8.064e-05 6.501e-05 44647009 TRIOBP . GRCh38 chr22 37724589 37724589 + Missense_Mutation SNP T T A rs765830519 7316-189 BS_GFKX8YM0 T T c.2033T>A p.Leu678Gln p.L678Q ENST00000406386 7/24 68 55 6 24 23 0 TRIOBP,missense_variant,p.Leu678Gln,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Leu678Gln,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; A ENSG00000100106 ENST00000406386 Transcript missense_variant 2304/10145 2033/7098 678/2365 L/Q cTa/cAa rs765830519,COSM4299359 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 tolerated_low_confidence(1) benign(0) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 1 PASS CTA . . 2.157e-05 0.0002648 3.523e-05 37724589 XG . GRCh38 chrX 2794592 2794592 + Missense_Mutation SNP G G A rs775966593 7316-189 BS_GFKX8YM0 G G c.311G>A p.Arg104Gln p.R104Q ENST00000644266 6/11 71 36 35 29 29 0 XG,missense_variant,p.Arg104Gln,ENST00000644266,NM_001141919.1;XG,missense_variant,p.Arg104Gln,ENST00000381174,NM_175569.2,NM_001141920.1;XG,missense_variant,p.Arg82Gln,ENST00000419513,;XG,missense_variant,p.Arg82Gln,ENST00000509484,;XG,non_coding_transcript_exon_variant,,ENST00000519244,; A ENSG00000124343 ENST00000644266 Transcript missense_variant 534/2931 311/588 104/195 R/Q cGg/cAg rs775966593 1 1 XG HGNC HGNC:12806 protein_coding YES CCDS48073.1 ENSP00000494087 UPI0000D61D1F NM_001141919.1 tolerated(0.59) possibly_damaging(0.776) 6/11 Pfam_domain:PF12301,hmmpanther:PTHR15076,hmmpanther:PTHR15076:SF4,mobidb-lite,Low_complexity_(Seg):seg 0.0003 MODERATE 1 SNV PASS CGG . . 5.733e-06 8.458e-05 2794592 VCX . GRCh38 chrX 7843706 7843706 + Missense_Mutation SNP T T C rs80291436 7316-189 BS_GFKX8YM0 T T c.311T>C p.Leu104Pro p.L104P ENST00000381059 3/3 72 60 10 41 41 0 VCX,missense_variant,p.Leu104Pro,ENST00000381059,NM_013452.2;VCX,missense_variant,p.Leu104Pro,ENST00000620630,;VCX,missense_variant,p.Leu104Pro,ENST00000341408,;,regulatory_region_variant,,ENSR00000339578,; C ENSG00000182583 ENST00000381059 Transcript missense_variant 530/967 311/621 104/206 L/P cTg/cCg rs80291436,COSM3718728 1 1 VCX HGNC HGNC:12667 protein_coding YES CCDS14128.1 ENSP00000370447 Q9H320 UPI0000138291 NM_013452.2 deleterious(0.01) benign(0.003) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF2,Pfam_domain:PF15231 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 0.1851 0.1808 0.1431 0.1144 0.3569 0.2442 0.1644 0.1544 0.2269 7843706 CLCN5 . GRCh38 chrX 50042464 50042464 + Splice_Site SNP T T C novel 7316-189 BS_GFKX8YM0 T T c.163+2T>C p.X55_splice ENST00000376088 88 72 15 40 37 0 CLCN5,splice_donor_variant,,ENST00000376088,NM_001127898.3,NM_001127899.3;CLCN5,splice_donor_variant,,ENST00000376091,;CLCN5,synonymous_variant,p.Gly55=,ENST00000482218,NM_001272102.1;CLCN5,splice_donor_variant,,ENST00000643129,; C ENSG00000171365 ENST00000376088 Transcript splice_donor_variant 1 1 CLCN5 HGNC HGNC:2023 protein_coding YES CCDS48115.1 ENSP00000365256 P51795 UPI0000212052 NM_001127898.3,NM_001127899.3 4/14 HIGH 1 SNV 2 1 PASS GTA . . 50042464 SLC25A5 . GRCh38 chrX 119469962 119469962 + Missense_Mutation SNP G G A rs200550329 7316-189 BS_GFKX8YM0 G G c.413G>A p.Arg138His p.R138H ENST00000317881 2/4 76 65 8 43 42 0 SLC25A5,missense_variant,p.Arg138His,ENST00000317881,NM_001152.4;SLC25A5-AS1,upstream_gene_variant,,ENST00000445759,;SLC25A5-AS1,upstream_gene_variant,,ENST00000446986,;SLC25A5-AS1,upstream_gene_variant,,ENST00000609227,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000460013,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000475354,;SLC25A5,upstream_gene_variant,,ENST00000463551,;SLC25A5-AS1,upstream_gene_variant,,ENST00000395539,; A ENSG00000005022 ENST00000317881 Transcript missense_variant 529/1274 413/897 138/298 R/H cGt/cAt rs200550329,COSM3733892 1 1 SLC25A5 HGNC HGNC:10991 protein_coding YES CCDS14578.1 ENSP00000360671 P05141 UPI000013C4ED NM_001152.4 tolerated(0.09) probably_damaging(0.973) 2/4 PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF612,Pfam_domain:PF00153,Gene3D:1.50.40.10,Superfamily_domains:SSF103506,Prints_domain:PR00926 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 1.159e-05 2.586e-05 119469962 MT-ND5 . GRCh38 chrM 13888 13888 + Missense_Mutation SNP T T C novel 7316-189 BS_GFKX8YM0 T T c.1552T>C p.Cys518Arg p.C518R ENST00000361567 1/1 19954 18124 1235 1782 1672 11 MT-ND5,missense_variant,p.Cys518Arg,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339371,; C ENSG00000198786 ENST00000361567 Transcript missense_variant 1552/1812 1552/1812 518/603 C/R Tgc/Cgc 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D tolerated_low_confidence(0.35) benign(0) 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF06455,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2 MODERATE 1 SNV 1 PASS ATG . . 13888 NBPF6 . GRCh38 chr1 108450707 108450707 + Nonsense_Mutation SNP C C T rs201998872 7316-2157 BS_JDD16DMY C C c.106C>T p.Arg36Ter p.R36* ENST00000495380 2/15 55 43 11 21 21 0 NBPF6,stop_gained,p.Arg36Ter,ENST00000495380,NM_001143988.1;NBPF6,stop_gained,p.Arg36Ter,ENST00000370040,NM_001143987.1;NBPF6,stop_gained,p.Arg36Ter,ENST00000531446,; T ENSG00000186086 ENST00000495380 Transcript stop_gained 319/2494 106/1917 36/638 R/* Cga/Tga rs201998872,COSM4142088,COSM4142087 1 1 NBPF6 HGNC HGNC:31988 protein_coding YES CCDS44184.1 ENSP00000417277 Q5VWK0 UPI0000160A67 NM_001143988.1 2/15 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16 0,1,1 HIGH 1 SNV 5 0,1,1 PASS CCG . . 0.07841 0.07795 0.05212 0.1629 0.1359 0.1056 0.09138 0.1112 108450707 FMN2 . GRCh38 chr1 240207685 240207685 + Missense_Mutation SNP C C T rs111896385 7316-2157 BS_JDD16DMY C C c.2873C>T p.Pro958Leu p.P958L ENST00000319653 5/18 50 35 12 30 26 1 FMN2,missense_variant,p.Pro958Leu,ENST00000319653,NM_020066.4,NM_001305424.1;FMN2,downstream_gene_variant,,ENST00000447095,; T ENSG00000155816 ENST00000319653 Transcript missense_variant 3103/6434 2873/5169 958/1722 P/L cCt/cTt rs111896385,COSM3751036 1 1 FMN2 HGNC HGNC:14074 protein_coding YES CCDS31069.2 ENSP00000318884 Q9NZ56 UPI00015FA087 NM_020066.4,NM_001305424.1 tolerated_low_confidence(0.13) possibly_damaging(0.851) 5/18 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF16,Pfam_domain:PF06346,SMART_domains:SM00498,Prints_domain:PR01217 0,1 MODERATE 1 SNV 5 0,1 1 PASS CCT . . 0.1603 0.08985 0.0944 0.3186 0.1524 0.1229 0.1816 0.176 0.1751 240207685 CTNNB1 . GRCh38 chr3 41224607 41224607 + Missense_Mutation SNP A A G rs121913396 7316-2157 BS_JDD16DMY A A c.95A>G p.Asp32Gly p.D32G ENST00000645320 3/15 60 39 19 50 50 0 CTNNB1,missense_variant,p.Asp32Gly,ENST00000645320,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Gly,ENST00000433400,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000644524,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000644678,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000642986,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000645900,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000643297,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000643541,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Asp32Gly,ENST00000643031,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000646381,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000642836,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000645493,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000645210,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000642992,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000645276,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000644867,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000644873,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000642886,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000643977,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000647264,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000646174,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000642315,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000643992,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000647390,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000645982,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000644138,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000642248,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000646116,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000646725,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000642426,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000646369,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000647413,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; G ENSG00000168036 ENST00000645320 Transcript missense_variant 1938/4735 95/2346 32/781 D/G gAc/gGc rs121913396,COSM5691,COSM5690,COSM5681 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0.01) probably_damaging(0.984) 3/15 hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 likely_pathogenic,pathogenic 0,1,1,1 10192393 MODERATE 1 SNV 1,1,1,1 1 PASS GAC . . 41224607 MAML3 . GRCh38 chr4 139889485 139889487 + In_Frame_Del DEL GCT GCT - rs745861092 7316-2157 BS_JDD16DMY GCT GCT c.1949_1951del p.Gln650del p.Q650del ENST00000509479 2/5 67 58 5 32 23 0 MAML3,inframe_deletion,p.Gln650del,ENST00000509479,NM_018717.4;MAML3,inframe_deletion,p.Gln178del,ENST00000398940,;MAML3,intron_variant,,ENST00000502696,; - ENSG00000196782 ENST00000509479 Transcript inframe_deletion 2806-2808/6844 1949-1951/3417 650-651/1138 QP/P cAGCcg/ccg rs745861092,COSM5092658,COSM4700064,COSM1721280,COSM1721279 1 -1 MAML3 HGNC HGNC:16272 protein_coding YES CCDS54805.1 ENSP00000421180 Q96JK9 UPI00001C1E1E NM_018717.4 2/5 Gene3D:1.10.110.10,hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8,mobidb-lite,Low_complexity_(Seg):seg 0,1,1,1,1 MODERATE 1 deletion 1 0,1,1,1,1 PASS CGGCTG . . 139889484 TBX20 . GRCh38 chr7 35248847 35248848 + Splice_Region DEL AG AG - rs147314121 7316-2157 BS_JDD16DMY AG AG c.381-7_381-6del ENST00000408931 47 37 5 34 30 0 TBX20,splice_region_variant,,ENST00000408931,NM_001166220.1,NM_001077653.2;TBX20,splice_region_variant,,ENST00000492961,; - ENSG00000164532 ENST00000408931 Transcript splice_region_variant,intron_variant rs147314121,COSM1724340,COSM1724339 1 -1 TBX20 HGNC HGNC:11598 protein_coding YES CCDS43568.1 ENSP00000386170 Q9UMR3 UPI00004B23D3 NM_001166220.1,NM_001077653.2 2/7 0,1,1 LOW 1 deletion 1 0,1,1 1 PASS ACAGA . . 0.009887 0.007387 0.008008 0.008081 0.005707 0.005299 0.01249 0.01097 0.009587 35248846 EPPK1 . GRCh38 chr8 143859146 143859146 + Missense_Mutation SNP G G A rs1439190657 7316-2157 BS_JDD16DMY G G c.14108C>T p.Ala4703Val p.A4703V ENST00000615648 2/2 57 47 10 32 31 0 EPPK1,missense_variant,p.Ala4703Val,ENST00000615648,NM_031308.3;EPPK1,missense_variant,p.Ala4678Val,ENST00000568225,;,regulatory_region_variant,,ENSR00000333972,; A ENSG00000261150 ENST00000615648 Transcript missense_variant 14180/16002 14108/15267 4703/5088 A/V gCg/gTg rs1439190657 1 -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107 UPI0002065B93 NM_031308.3 tolerated(0.22) possibly_damaging(0.691) 2/2 Gene3D:3.90.1290.10,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2 MODERATE 1 SNV 5 PASS CGC . . 143859146 BMS1P10 . GRCh38 chr9 63373474 63373474 + Splice_Region SNP G G A rs199578430 7316-2157 BS_JDD16DMY G G n.797-6C>T ENST00000443754 72 49 20 27 26 1 BMS1P10,splice_region_variant,,ENST00000443754,; A ENSG00000237238 ENST00000443754 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs199578430 1 -1 BMS1P10 HGNC HGNC:49154 unprocessed_pseudogene YES 6/7 LOW 1 SNV PASS AGG . . 63373474 TOPORSLP . GRCh38 chr9 104285992 104285992 + Splice_Site SNP A A T rs1473809383 7316-2157 BS_JDD16DMY A A n.141-2A>T ENST00000469756 62 50 6 32 28 0 TOPORSLP,splice_acceptor_variant,,ENST00000469756,; T ENSG00000242111 ENST00000469756 Transcript splice_acceptor_variant,non_coding_transcript_variant rs1473809383 1 1 TOPORSLP HGNC HGNC:50276 processed_transcript 2/3 HIGH 1 SNV 3 PASS TAG . . 104285992 NEK5 . GRCh38 chr13 52082315 52082315 + Splice_Region DEL A A - rs779680411 7316-2157 BS_JDD16DMY A A c.1573-3del ENST00000355568 54 47 5 43 41 0 NEK5,splice_region_variant,,ENST00000355568,NM_199289.2;NEK5,splice_region_variant,,ENST00000617045,;NEK5,intron_variant,,ENST00000465811,; - ENSG00000197168 ENST00000355568 Transcript splice_region_variant,intron_variant rs779680411 1 -1 NEK5 HGNC HGNC:7748 protein_coding YES CCDS31979.1 ENSP00000347767 Q6P3R8 UPI0000227E77 NM_199289.2 17/21 0.01777 0.007463 LOW 1 deletion 1 PASS CTAA . . 0.04494 0.05078 0.0571 0.03907 0.04841 0.03463 0.04088 0.04195 0.04641 52082314 MAP3K9 . GRCh38 chr14 70809057 70809059 + In_Frame_Del DEL CCT CCT - rs397840789,rs3832971 7316-2157 BS_JDD16DMY CCT CCT c.113_115del p.Glu38del p.E38del ENST00000555993 1/13 52 36 8 40 33 1 MAP3K9,inframe_deletion,p.Glu38del,ENST00000554752,NM_001284230.1;MAP3K9,inframe_deletion,p.Glu38del,ENST00000555993,NM_033141.3;MAP3K9,inframe_deletion,p.Glu38del,ENST00000381250,;AC004816.1,upstream_gene_variant,,ENST00000554032,;AC004816.1,upstream_gene_variant,,ENST00000557691,;,regulatory_region_variant,,ENSR00000070345,; - ENSG00000006432 ENST00000555993 Transcript inframe_deletion 476-478/4449 113-115/3357 38-39/1118 EA/A gAGGcg/gcg rs397840789,rs3832971,COSM111673 1 -1 MAP3K9 HGNC HGNC:6861 protein_coding YES CCDS32112.1 ENSP00000451263 P80192 UPI00001D7B5C NM_033141.3 1/13 Gene3D:2.30.30.40,PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF2,mobidb-lite,Low_complexity_(Seg):seg 0.1339 0.1397 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS CGCCTC . . 0.2322 0.1902 0.2899 0.186 0.2947 0.125 0.1943 0.25 0.2716 70809056 HEATR9 . GRCh38 chr17 35865305 35865306 + Frame_Shift_Ins INS - - TGGTCGCC rs1180880126 7316-2157 BS_JDD16DMY - - c.229_230insGGCGACCA p.Pro77ArgfsTer26 p.P77Rfs*26 ENST00000604834 3/15 62 44 11 49 48 0 HEATR9,frameshift_variant,p.Pro77ArgfsTer26,ENST00000604834,NM_152781.3;HEATR9,frameshift_variant,p.Pro77ArgfsTer26,ENST00000603870,NM_001321395.1;HEATR9,frameshift_variant,p.Pro77ArgfsTer26,ENST00000603218,;TAF15,downstream_gene_variant,,ENST00000603967,;AC015849.1,upstream_gene_variant,,ENST00000605548,;HEATR9,non_coding_transcript_exon_variant,,ENST00000604376,;HEATR9,frameshift_variant,p.Pro77ArgfsTer26,ENST00000603323,;HEATR9,frameshift_variant,p.Pro43ArgfsTer26,ENST00000603852,;HEATR9,frameshift_variant,p.Pro43ArgfsTer26,ENST00000605080,;HEATR9,non_coding_transcript_exon_variant,,ENST00000604400,;TAF15,downstream_gene_variant,,ENST00000604195,;AC015849.6,upstream_gene_variant,,ENST00000605454,; TGGTCGCC ENSG00000270379 ENST00000604834 Transcript frameshift_variant 378-379/1974 229-230/1713 77/570 P/RRPX cct/cGGCGACCAct rs1180880126 1 -1 HEATR9 HGNC HGNC:26548 protein_coding YES CCDS11299.1 ENSP00000473941 A2RTY3 UPI000013F215 NM_152781.3 3/15 hmmpanther:PTHR38323 HIGH 1 insertion 1 PASS AGG . . 35865305 HEATR9 . GRCh38 chr17 35865310 35865311 + Frame_Shift_Ins INS - - A novel 7316-2157 BS_JDD16DMY - - c.224_225insT p.Lys75AsnfsTer4 p.K75Nfs*4 ENST00000604834 3/15 59 48 11 50 49 0 HEATR9,frameshift_variant,p.Lys75AsnfsTer4,ENST00000604834,NM_152781.3;HEATR9,frameshift_variant,p.Lys75AsnfsTer4,ENST00000603870,NM_001321395.1;HEATR9,frameshift_variant,p.Lys75AsnfsTer4,ENST00000603218,;TAF15,downstream_gene_variant,,ENST00000603967,;AC015849.1,upstream_gene_variant,,ENST00000605548,;HEATR9,non_coding_transcript_exon_variant,,ENST00000604376,;HEATR9,frameshift_variant,p.Lys75AsnfsTer4,ENST00000603323,;HEATR9,frameshift_variant,p.Lys41AsnfsTer4,ENST00000603852,;HEATR9,frameshift_variant,p.Lys41AsnfsTer4,ENST00000605080,;HEATR9,non_coding_transcript_exon_variant,,ENST00000604400,;TAF15,downstream_gene_variant,,ENST00000604195,;AC015849.6,upstream_gene_variant,,ENST00000605454,; A ENSG00000270379 ENST00000604834 Transcript frameshift_variant 373-374/1974 224-225/1713 75/570 K/NX aag/aaTg 1 -1 HEATR9 HGNC HGNC:26548 protein_coding YES CCDS11299.1 ENSP00000473941 A2RTY3 UPI000013F215 NM_152781.3 3/15 hmmpanther:PTHR38323 HIGH 1 insertion 1 PASS TCT . . 35865310 HEATR9 . GRCh38 chr17 35865319 35865327 + In_Frame_Del DEL GCAGTACGG GCAGTACGG - rs1213797500 7316-2157 BS_JDD16DMY GCAGTACGG GCAGTACGG c.208_216del p.Pro70_Cys72del p.P70_C72del ENST00000604834 3/15 62 50 11 48 48 0 HEATR9,inframe_deletion,p.Pro70_Cys72del,ENST00000604834,NM_152781.3;HEATR9,inframe_deletion,p.Pro70_Cys72del,ENST00000603870,NM_001321395.1;HEATR9,inframe_deletion,p.Pro70_Cys72del,ENST00000603218,;TAF15,downstream_gene_variant,,ENST00000603967,;AC015849.1,upstream_gene_variant,,ENST00000605548,;HEATR9,non_coding_transcript_exon_variant,,ENST00000604376,;HEATR9,inframe_deletion,p.Pro70_Cys72del,ENST00000603323,;HEATR9,inframe_deletion,p.Pro36_Cys38del,ENST00000603852,;HEATR9,inframe_deletion,p.Pro36_Cys38del,ENST00000605080,;HEATR9,non_coding_transcript_exon_variant,,ENST00000604400,;TAF15,downstream_gene_variant,,ENST00000604195,;AC015849.6,upstream_gene_variant,,ENST00000605454,; - ENSG00000270379 ENST00000604834 Transcript inframe_deletion 357-365/1974 208-216/1713 70-72/570 PYC/- CCGTACTGC/- rs1213797500 1 -1 HEATR9 HGNC HGNC:26548 protein_coding YES CCDS11299.1 ENSP00000473941 A2RTY3 UPI000013F215 NM_152781.3 3/15 hmmpanther:PTHR38323 MODERATE 1 deletion 1 PASS TAGCAGTACGGG . . 35865318 NAPA . GRCh38 chr19 47495584 47495588 + Frame_Shift_Del DEL CAGTT CAGTT - 7316-2157 BS_JDD16DMY CAGTT CAGTT c.304_308del p.Asn102PhefsTer26 p.N102Ffs*26 ENST00000263354 4/11 66 56 6 44 42 0 NAPA,frameshift_variant,p.Asn102PhefsTer26,ENST00000263354,NM_003827.3;NAPA,frameshift_variant,p.Asn63PhefsTer26,ENST00000595227,;NAPA,frameshift_variant,p.Asn112PhefsTer26,ENST00000593761,;NAPA,frameshift_variant,p.Asn52PhefsTer26,ENST00000597118,;NAPA,frameshift_variant,p.Asn43PhefsTer26,ENST00000594155,;NAPA,5_prime_UTR_variant,,ENST00000598615,;NAPA-AS1,non_coding_transcript_exon_variant,,ENST00000593284,;NAPA-AS1,intron_variant,,ENST00000594367,;NAPA,non_coding_transcript_exon_variant,,ENST00000595826,;NAPA,non_coding_transcript_exon_variant,,ENST00000596892,;NAPA,downstream_gene_variant,,ENST00000593785,;NAPA,downstream_gene_variant,,ENST00000597160,;NAPA,stop_lost,,ENST00000594001,;NAPA,stop_lost,,ENST00000597274,;NAPA,3_prime_UTR_variant,,ENST00000601208,;NAPA,non_coding_transcript_exon_variant,,ENST00000597778,;NAPA,non_coding_transcript_exon_variant,,ENST00000602082,;NAPA,non_coding_transcript_exon_variant,,ENST00000594740,;NAPA,non_coding_transcript_exon_variant,,ENST00000602174,;NAPA,non_coding_transcript_exon_variant,,ENST00000594288,;NAPA,non_coding_transcript_exon_variant,,ENST00000601927,;NAPA,upstream_gene_variant,,ENST00000593905,;NAPA,upstream_gene_variant,,ENST00000594217,;NAPA,upstream_gene_variant,,ENST00000597271,; - ENSG00000105402 ENST00000263354 Transcript frameshift_variant 604-608/1839 304-308/888 102-103/295 NC/X AACTGt/t COSM6864791 1 -1 NAPA HGNC HGNC:7641 protein_coding YES CCDS12702.1 ENSP00000263354 P54920 A0A024R0R9 UPI00000012C7 NM_003827.3 4/11 Gene3D:1.25.40.10,Pfam_domain:PF14938,Prints_domain:PR00448,hmmpanther:PTHR13768,hmmpanther:PTHR13768:SF22,Superfamily_domains:SSF48452,cd15832 1 HIGH 1 deletion 1 1 PASS AACAGTTA . . 47495583 PDCD6IP . GRCh38 chr3 33855224 33855224 + Frame_Shift_Del DEL T T - novel 7316-380 BS_F4V6RWJ9 T T c.2103del p.Phe701LeufsTer11 p.F701Lfs*11 ENST00000457054 15/18 73 61 6 36 34 0 PDCD6IP,frameshift_variant,p.Phe696LeufsTer11,ENST00000307296,NM_013374.5;PDCD6IP,frameshift_variant,p.Phe701LeufsTer11,ENST00000457054,NM_001162429.2;PDCD6IP,non_coding_transcript_exon_variant,,ENST00000495235,;PDCD6IP,non_coding_transcript_exon_variant,,ENST00000465122,;PDCD6IP,non_coding_transcript_exon_variant,,ENST00000489869,; - ENSG00000170248 ENST00000457054 Transcript frameshift_variant 2257/5962 2099/2622 700/873 V/X gTt/gt 1 1 PDCD6IP HGNC HGNC:8766 protein_coding YES CCDS54561.1 ENSP00000411825 Q8WUM4 UPI00004121D3 NM_001162429.2 15/18 cd09235,hmmpanther:PTHR23030,hmmpanther:PTHR23030:SF22,Pfam_domain:PF13949,Gene3D:1.20.140.50 HIGH 1 deletion 1 4 PASS AGTT . . 33855223 CTNNB1 . GRCh38 chr3 41224607 41224607 + Missense_Mutation SNP A A C rs121913396 7316-380 BS_F4V6RWJ9 A A c.95A>C p.Asp32Ala p.D32A ENST00000645320 3/15 78 59 19 24 24 0 CTNNB1,missense_variant,p.Asp32Ala,ENST00000645320,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000349496,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000441708,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Ala,ENST00000433400,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000644524,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000644678,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000642986,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000645900,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000643297,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000643541,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000396183,NM_001904.3,NM_001098210.1;CTNNB1,missense_variant,p.Asp32Ala,ENST00000643031,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000646381,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000642836,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000645493,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000645210,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000642992,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000645276,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000644867,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000644873,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000642886,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000643977,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000647264,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000646174,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000642315,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000643992,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000647390,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000645982,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000644138,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000642248,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000646116,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000646725,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000642426,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000646369,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000647413,;CTNNB1,missense_variant,p.Asp25Ala,ENST00000426215,;CTNNB1,upstream_gene_variant,,ENST00000645927,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;CTNNB1,missense_variant,p.Asp32Ala,ENST00000646074,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643052,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000643865,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000647021,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000645305,;,regulatory_region_variant,,ENSR00000151249,; C ENSG00000168036 ENST00000645320 Transcript missense_variant 1938/4735 95/2346 32/781 D/A gAc/gCc rs121913396,COSM5691,COSM5690,COSM5681 1 1 CTNNB1 HGNC HGNC:2514 protein_coding YES CCDS2694.1 ENSP00000495360 A0A024R2Q3 UPI000012862F deleterious(0) probably_damaging(0.971) 3/15 hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53 likely_pathogenic,pathogenic 0,1,1,1 10192393 MODERATE 1 SNV 1,1,1,1 1 PASS GAC . . 41224607 KLHL8 . GRCh38 chr4 87183385 87183385 + Missense_Mutation SNP C C G rs775269491 7316-380 BS_F4V6RWJ9 C C c.770G>C p.Arg257Pro p.R257P ENST00000273963 4/10 63 51 6 44 43 1 KLHL8,missense_variant,p.Arg257Pro,ENST00000273963,NM_020803.4;KLHL8,missense_variant,p.Arg181Pro,ENST00000498875,NM_001292006.1;KLHL8,missense_variant,p.Arg74Pro,ENST00000425278,NM_001292007.1;KLHL8,missense_variant,p.Arg257Pro,ENST00000512111,NM_001292003.1;KLHL8,intron_variant,,ENST00000504029,;KLHL8,intron_variant,,ENST00000505388,;KLHL8,intron_variant,,ENST00000506985,; G ENSG00000145332 ENST00000273963 Transcript missense_variant 1112/5621 770/1863 257/620 R/P cGc/cCc rs775269491 1 -1 KLHL8 HGNC HGNC:18644 protein_coding YES CCDS3617.1 ENSP00000273963 Q9P2G9 UPI00001AE9B8 NM_020803.4 deleterious(0) probably_damaging(0.999) 4/10 Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF403,SMART_domains:SM00875 MODERATE 1 SNV 1 PASS GCG . . 4.172e-06 4.642e-05 87183385 MGAT4D . GRCh38 chr4 140459629 140459630 + Splice_Region INS - - A rs780471046 7316-380 BS_F4V6RWJ9 - - c.763-4dup ENST00000511113 65 51 10 46 43 1 MGAT4D,splice_region_variant,,ENST00000503109,;MGAT4D,splice_region_variant,,ENST00000511113,NM_001277353.1;MGAT4D,intron_variant,,ENST00000515354,;MGAT4D,upstream_gene_variant,,ENST00000513018,;MGAT4D,intron_variant,,ENST00000511632,;MGAT4D,splice_region_variant,,ENST00000513106,;MGAT4D,splice_region_variant,,ENST00000515121,; A ENSG00000205301 ENST00000511113 Transcript splice_region_variant,intron_variant rs780471046 1 -1 MGAT4D HGNC HGNC:43619 protein_coding YES CCDS64066.1 ENSP00000421185 A6NG13 UPI0001BFFEBB NM_001277353.1 7/10 LOW 1 insertion 5 PASS TGA . . 0.04216 0.025 0.04468 0.05324 0.06075 0.05315 0.03609 0.02222 0.0553 140459629 FRG1 . GRCh38 chr4 189957506 189957506 + Splice_Region SNP A A T rs62345291 7316-380 BS_F4V6RWJ9 A A c.537+4A>T ENST00000226798 160 79 79 45 42 3 FRG1,splice_region_variant,,ENST00000226798,NM_004477.2;FRG1,splice_region_variant,,ENST00000524583,;FRG1,downstream_gene_variant,,ENST00000531991,;FRG1,splice_region_variant,,ENST00000514482,;FRG1,upstream_gene_variant,,ENST00000505327,;FRG1,upstream_gene_variant,,ENST00000507103,;FRG1,downstream_gene_variant,,ENST00000533157,; T ENSG00000109536 ENST00000226798 Transcript splice_region_variant,intron_variant rs62345291,COSM5480145 1 1 FRG1 HGNC HGNC:3954 protein_coding YES CCDS34121.1 ENSP00000226798 Q14331 UPI000012AC04 NM_004477.2 6/8 0,1 LOW 1 SNV 1 0,1 1 PASS AAT . . 0.4993 0.499 0.4999 0.499 0.4998 0.5 0.4988 0.4987 0.5 189957506 ERVW-1 . GRCh38 chr7 92469843 92469843 + Missense_Mutation SNP G G A rs201864690 7316-380 BS_F4V6RWJ9 G G c.539C>T p.Ala180Val p.A180V ENST00000493463 1/1 74 65 9 39 39 0 ERVW-1,missense_variant,p.Ala180Val,ENST00000493463,NM_014590.3;ERVW-1,missense_variant,p.Ala180Val,ENST00000603053,NM_001130925.1;AC007566.1,intron_variant,,ENST00000427458,;ERVW-1,intron_variant,,ENST00000603704,;ERVW-1,intron_variant,,ENST00000604270,;ERVW-1,downstream_gene_variant,,ENST00000603252,; A ENSG00000242950 ENST00000493463 Transcript missense_variant 1463/2925 539/1617 180/538 A/V gCc/gTc rs201864690 1 -1 ERVW-1 HGNC HGNC:13525 protein_coding YES CCDS5626.1 ENSP00000419945 Q9UQF0 D0EYG5 UPI00000389BB NM_014590.3 deleterious(0.03) benign(0.038) 1/1 hmmpanther:PTHR10424:SF48,hmmpanther:PTHR10424,Pfam_domain:PF00429 MODERATE SNV PASS GGC . . 1.263e-05 6.75e-05 5.389e-05 9.26e-06 92469843 PRSS3 . GRCh38 chr9 33799028 33799028 + Missense_Mutation SNP C C G rs148495550 7316-380 BS_F4V6RWJ9 C C c.763C>G p.Arg255Gly p.R255G ENST00000361005 5/5 94 83 11 50 50 0 PRSS3,missense_variant,p.Arg212Gly,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Arg255Gly,ENST00000361005,NM_007343.3;PRSS3,missense_variant,p.Arg198Gly,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Arg191Gly,ENST00000429677,NM_001197098.1;PRSS3,downstream_gene_variant,,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,non_coding_transcript_exon_variant,,ENST00000495682,;PRSS3,downstream_gene_variant,,ENST00000468152,;PRSS3,downstream_gene_variant,,ENST00000477653,; G ENSG00000010438 ENST00000361005 Transcript missense_variant,splice_region_variant 763/966 763/915 255/304 R/G Cgt/Ggt rs148495550,COSM4163789,COSM4163790,COSM4163791,COSM4593773 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 tolerated(1) benign(0.003) 5/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS GCG . . 0.00155 0.001208 0.0001835 0.000841 0.003824 0.002563 0.0004617 3.662e-05 33799028 FRG2B . GRCh38 chr10 133625131 133625131 + Missense_Mutation SNP T T G rs199913567 7316-380 BS_F4V6RWJ9 T T c.805A>C p.Thr269Pro p.T269P ENST00000425520 4/4 61 42 19 35 35 0 FRG2B,missense_variant,p.Thr270Pro,ENST00000443774,;FRG2B,missense_variant,p.Thr269Pro,ENST00000425520,NM_001080998.1;,regulatory_region_variant,,ENSR00000262296,; G ENSG00000225899 ENST00000425520 Transcript missense_variant 858/890 805/837 269/278 T/P Act/Cct rs199913567,COSM3806822 1 -1 FRG2B HGNC HGNC:33518 protein_coding YES CCDS44502.1 ENSP00000401310 Q96QU4 UPI00000727C6 NM_001080998.1 tolerated_low_confidence(1) benign(0) 4/4 hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF4,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS GTC . . 0.09476 0.1567 0.1012 0.09551 0.03191 0.1756 0.1061 0.0863 0.1085 133625131 FRG2B . GRCh38 chr10 133625545 133625545 + Missense_Mutation SNP G G C rs200347477 7316-380 BS_F4V6RWJ9 G G c.391C>G p.Pro131Ala p.P131A ENST00000425520 4/4 89 69 20 41 41 0 FRG2B,missense_variant,p.Pro132Ala,ENST00000443774,;FRG2B,missense_variant,p.Pro131Ala,ENST00000425520,NM_001080998.1;,regulatory_region_variant,,ENSR00000262296,; C ENSG00000225899 ENST00000425520 Transcript missense_variant 444/890 391/837 131/278 P/A Cct/Gct rs200347477,COSM4593752 1 -1 FRG2B HGNC HGNC:33518 protein_coding YES CCDS44502.1 ENSP00000401310 Q96QU4 UPI00000727C6 NM_001080998.1 tolerated(0.85) benign(0) 4/4 Pfam_domain:PF15315,Prints_domain:PR02074,hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF4,mobidb-lite 0.0002 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS GGA . . 0.001585 0.002249 0.0001542 0.0008587 0.0001218 0.01 0.001099 0.0005818 0.0004796 133625545 AIP . GRCh38 chr11 67483199 67483199 + Frame_Shift_Del DEL A A - 7316-380 BS_F4V6RWJ9 A A c.45del p.Lys15AsnfsTer3 p.K15Nfs*3 ENST00000279146 1/6 79 71 5 45 41 0 AIP,frameshift_variant,p.Lys15AsnfsTer3,ENST00000279146,NM_001302959.1,NM_003977.3,NM_001302960.1;AIP,frameshift_variant,p.Lys15AsnfsTer3,ENST00000528641,;AIP,non_coding_transcript_exon_variant,,ENST00000529797,;,regulatory_region_variant,,ENSR00000041115,; - ENSG00000110711 ENST00000279146 Transcript frameshift_variant 159/1221 41/993 14/330 Q/X cAa/ca COSM5839384 1 1 AIP HGNC HGNC:358 protein_coding YES CCDS8168.1 ENSP00000279146 O00170 G9I2H4 UPI000016B170 NM_001302959.1,NM_003977.3,NM_001302960.1 1/6 Gene3D:3.10.50.40,hmmpanther:PTHR11242,hmmpanther:PTHR11242:SF3,Superfamily_domains:SSF54534 1 HIGH 1 deletion 1 4 1 1 PASS CCAA . . 67483198 KMT2D . GRCh38 chr12 49049971 49049971 + Frame_Shift_Del DEL T T - novel 7316-380 BS_F4V6RWJ9 T T c.3617del p.Asn1206ThrfsTer6 p.N1206Tfs*6 ENST00000301067 11/54 77 62 10 56 52 0 KMT2D,frameshift_variant,p.Asn1206ThrfsTer6,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000547610,;,regulatory_region_variant,,ENSR00000051566,; - ENSG00000167548 ENST00000301067 Transcript frameshift_variant 3617/19419 3617/16614 1206/5537 N/X aAc/ac 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 11/54 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,mobidb-lite HIGH 1 deletion 5 1 PASS CGTT . . 49049970 DLST . GRCh38 chr14 74901133 74901133 + Frame_Shift_Del DEL T T - novel 7316-380 BS_F4V6RWJ9 T T c.1131del p.Phe377LeufsTer30 p.F377Lfs*30 ENST00000334220 14/15 76 69 5 50 48 0 DLST,frameshift_variant,p.Phe377LeufsTer30,ENST00000334220,NM_001933.4;RPS6KL1,downstream_gene_variant,,ENST00000354625,NM_031464.4;DLST,downstream_gene_variant,,ENST00000554806,;RPS6KL1,downstream_gene_variant,,ENST00000555647,;RPS6KL1,downstream_gene_variant,,ENST00000555910,;RPS6KL1,downstream_gene_variant,,ENST00000556848,;DLST,downstream_gene_variant,,ENST00000555190,;DLST,3_prime_UTR_variant,,ENST00000554612,;DLST,3_prime_UTR_variant,,ENST00000238671,;DLST,3_prime_UTR_variant,,ENST00000555089,;RPS6KL1,downstream_gene_variant,,ENST00000553646,;RPS6KL1,downstream_gene_variant,,ENST00000555009,;RPS6KL1,downstream_gene_variant,,ENST00000555834,; - ENSG00000119689 ENST00000334220 Transcript frameshift_variant 1188/2838 1127/1362 376/453 V/X gTt/gt 1 1 DLST HGNC HGNC:2911 protein_coding YES CCDS9833.1 ENSP00000335304 P36957 A0A024R6C9 UPI00000000C0 NM_001933.4 14/15 Gene3D:3.30.559.10,Pfam_domain:PF00198,hmmpanther:PTHR43416,hmmpanther:PTHR43416:SF5,Superfamily_domains:SSF52777,TIGRFAM_domain:TIGR01347 HIGH 1 deletion 1 4 PASS CGTT . . 74901132 GOLGA8S . GRCh38 chr15 23358494 23358494 + Missense_Mutation SNP T T A rs587867 7316-380 BS_F4V6RWJ9 T T c.332T>A p.Val111Glu p.V111E ENST00000562295 5/19 49 31 17 31 30 1 GOLGA8S,missense_variant,p.Val111Glu,ENST00000562295,;RN7SL536P,upstream_gene_variant,,ENST00000612366,;GOLGA8S,non_coding_transcript_exon_variant,,ENST00000604046,; A ENSG00000261739 ENST00000562295 Transcript missense_variant 332/1878 332/1878 111/625 V/E gTa/gAa rs587867,COSM4148407,COSM4148406 1 1 GOLGA8S HGNC HGNC:44409 protein_coding YES ENSP00000455298 H3BPF8 UPI00024672CC tolerated(1) benign(0) 5/19 Gene3D:1.20.1170.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF59,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GTA . . 0.4976 0.4994 0.4977 0.4993 0.4992 0.4835 0.4955 0.4957 0.5039 23358494 MLST8 . GRCh38 chr16 2207345 2207345 + Splice_Region SNP C C T rs200892288 7316-380 BS_F4V6RWJ9 C C c.573C>T p.Thr191= p.T191= ENST00000569417 6/9 52 38 14 30 29 0 MLST8,splice_region_variant,p.Thr191=,ENST00000569417,NM_022372.4,NM_001352057.1;MLST8,splice_region_variant,p.Thr190=,ENST00000382450,NM_001199175.1;MLST8,splice_region_variant,p.Thr191=,ENST00000564088,NM_001199173.1;MLST8,splice_region_variant,p.Thr191=,ENST00000301724,;MLST8,splice_region_variant,p.Thr191=,ENST00000397124,NM_001199174.1;MLST8,splice_region_variant,p.Thr191=,ENST00000565250,;MLST8,splice_region_variant,p.Thr197=,ENST00000562352,;MLST8,splice_region_variant,p.Thr191=,ENST00000569457,;BRICD5,downstream_gene_variant,,ENST00000328540,NM_182563.3;PGP,downstream_gene_variant,,ENST00000333503,NM_001042371.2;BRICD5,downstream_gene_variant,,ENST00000562360,;MLST8,downstream_gene_variant,,ENST00000562479,;MLST8,downstream_gene_variant,,ENST00000563179,;BRICD5,downstream_gene_variant,,ENST00000566018,;AC009065.7,upstream_gene_variant,,ENST00000561544,;MLST8,splice_region_variant,,ENST00000561651,;MLST8,splice_region_variant,,ENST00000564319,;MLST8,downstream_gene_variant,,ENST00000562043,;MLST8,downstream_gene_variant,,ENST00000562844,;MLST8,downstream_gene_variant,,ENST00000565926,;MLST8,splice_region_variant,,ENST00000568194,;MLST8,splice_region_variant,,ENST00000568542,;MLST8,splice_region_variant,,ENST00000563067,;MLST8,splice_region_variant,p.Thr191=,ENST00000566835,;MLST8,splice_region_variant,,ENST00000565330,;MLST8,splice_region_variant,,ENST00000565687,;MLST8,splice_region_variant,,ENST00000570224,;MLST8,splice_region_variant,,ENST00000565717,;MLST8,splice_region_variant,,ENST00000567282,;MLST8,splice_region_variant,,ENST00000563107,;MLST8,non_coding_transcript_exon_variant,,ENST00000569848,;PGP,downstream_gene_variant,,ENST00000562001,;MLST8,upstream_gene_variant,,ENST00000562239,;MLST8,upstream_gene_variant,,ENST00000562392,;MLST8,downstream_gene_variant,,ENST00000562851,;MLST8,downstream_gene_variant,,ENST00000564294,;MLST8,downstream_gene_variant,,ENST00000564679,;MLST8,downstream_gene_variant,,ENST00000565269,;MLST8,downstream_gene_variant,,ENST00000566653,;BRICD5,downstream_gene_variant,,ENST00000566795,;MLST8,downstream_gene_variant,,ENST00000567623,;MLST8,downstream_gene_variant,,ENST00000567928,; T ENSG00000167965 ENST00000569417 Transcript splice_region_variant,synonymous_variant 927/1870 573/981 191/326 T acC/acT rs200892288 1 1 MLST8 HGNC HGNC:24825 protein_coding YES CCDS10462.2 ENSP00000456405 Q9BVC4 UPI000006D8E8 NM_022372.4,NM_001352057.1 6/9 cd00200,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998,PROSITE_profiles:PS50294,hmmpanther:PTHR19842:SF0,hmmpanther:PTHR19842 0.0016 0.0061 0.002089 LOW 1 SNV 1 PASS CCG . . 0.0003625 0.004314 0.0005663 1.799e-05 0.0003663 2207345 MLLT6 . GRCh38 chr17 38716628 38716628 + Missense_Mutation SNP C C T rs757488825 7316-380 BS_F4V6RWJ9 C C c.1298C>T p.Thr433Met p.T433M ENST00000621332 10/20 65 48 16 38 38 0 MLLT6,missense_variant,p.Thr433Met,ENST00000621332,NM_005937.3;MLLT6,upstream_gene_variant,,ENST00000615858,;MLLT6,downstream_gene_variant,,ENST00000620609,;MIR4726,upstream_gene_variant,,ENST00000615971,;AC006449.3,non_coding_transcript_exon_variant,,ENST00000620144,;MLLT6,upstream_gene_variant,,ENST00000612066,;MLLT6,downstream_gene_variant,,ENST00000618652,;MLLT6,upstream_gene_variant,,ENST00000619356,;MLLT6,downstream_gene_variant,,ENST00000620482,; T ENSG00000275023 ENST00000621332 Transcript missense_variant 1389/7578 1298/3282 433/1093 T/M aCg/aTg rs757488825 1 1 MLLT6 HGNC HGNC:7138 protein_coding YES CCDS11327.1 ENSP00000479910 P55198 A0A087WW39 UPI00004B412B NM_005937.3 tolerated(0.16) possibly_damaging(0.813) 10/20 mobidb-lite,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF90 MODERATE 1 SNV 1 1 PASS ACG . . 1.633e-05 6.631e-05 0.0001351 38716628 LAIR2 . GRCh38 chr19 54509050 54509050 + Missense_Mutation SNP C C G rs202020943 7316-380 BS_F4V6RWJ9 C C c.380C>G p.Pro127Arg p.P127R ENST00000301202 4/5 54 43 10 27 27 0 LAIR2,missense_variant,p.Pro127Arg,ENST00000301202,NM_002288.5;LAIR2,intron_variant,,ENST00000351841,NM_021270.4;LAIR2,downstream_gene_variant,,ENST00000412608,;LAIR2,downstream_gene_variant,,ENST00000610651,;,regulatory_region_variant,,ENSR00000111523,; G ENSG00000167618 ENST00000301202 Transcript missense_variant 502/699 380/459 127/152 P/R cCg/cGg rs202020943 1 1 LAIR2 HGNC HGNC:6478 protein_coding YES CCDS12897.1 ENSP00000301202 Q6ISS4 UPI000013E6E5 NM_002288.5 tolerated(0.26) benign(0.003) 4/5 mobidb-lite,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF129 MODERATE 1 SNV 1 PASS CCG . . 0.000863 6.831e-05 0.001497 0.00195 0.000174 0.0006905 0.001664 0.001695 54509050 SGSM3 . GRCh38 chr22 40407314 40407314 + Frame_Shift_Del DEL A A - 7316-380 BS_F4V6RWJ9 A A c.1358del p.Asn453ThrfsTer6 p.N453Tfs*6 ENST00000248929 12/22 81 70 5 61 58 0 SGSM3,frameshift_variant,p.Asn453ThrfsTer6,ENST00000248929,NM_015705.5,NM_001301849.1,NM_001350046.1;MKL1,downstream_gene_variant,,ENST00000355630,NM_020831.4;MKL1,downstream_gene_variant,,ENST00000396617,NM_001282662.1;MKL1,downstream_gene_variant,,ENST00000402042,NM_001282661.1;MKL1,downstream_gene_variant,,ENST00000407029,NM_001282660.1;SGSM3,upstream_gene_variant,,ENST00000417424,;SGSM3,upstream_gene_variant,,ENST00000427834,;SGSM3,downstream_gene_variant,,ENST00000457767,;MKL1,downstream_gene_variant,,ENST00000614754,;MKL1,downstream_gene_variant,,ENST00000618196,NM_001318139.1;MKL1,downstream_gene_variant,,ENST00000618417,;MKL1,downstream_gene_variant,,ENST00000620651,;AL022238.4,3_prime_UTR_variant,,ENST00000639722,;SGSM3,non_coding_transcript_exon_variant,,ENST00000478085,;SGSM3,non_coding_transcript_exon_variant,,ENST00000485962,;SGSM3,non_coding_transcript_exon_variant,,ENST00000480830,;SGSM3,non_coding_transcript_exon_variant,,ENST00000481408,;SGSM3,non_coding_transcript_exon_variant,,ENST00000470518,;SGSM3,non_coding_transcript_exon_variant,,ENST00000481028,;SGSM3,upstream_gene_variant,,ENST00000462457,;SGSM3,upstream_gene_variant,,ENST00000467915,;SGSM3,upstream_gene_variant,,ENST00000469719,;MKL1,downstream_gene_variant,,ENST00000477468,; - ENSG00000100359 ENST00000248929 Transcript frameshift_variant 1543/2969 1354/2250 452/749 K/X Aaa/aa COSM5301144 1 1 SGSM3 HGNC HGNC:25228 protein_coding YES CCDS14002.1 ENSP00000248929 Q96HU1 B9A6J5 UPI0000035D8C NM_015705.5,NM_001301849.1,NM_001350046.1 12/22 Gene3D:2.30.30.40 1 HIGH 1 deletion 1 4 1 PASS CCAA . . 40407313 KLF18 . GRCh38 chr1 44139273 44139273 + Missense_Mutation SNP G G A rs1404699359 7316-2170 BS_0B2KNG4A G G c.2359C>T p.Pro787Ser p.P787S ENST00000634670 1/2 50 33 5 27 26 0 KLF18,missense_variant,p.Pro787Ser,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; A ENSG00000283039 ENST00000634670 Transcript missense_variant 2359/3159 2359/3159 787/1052 P/S Ccc/Tcc rs1404699359 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.5) benign(0) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GGG . . 44139273 TCHH . GRCh38 chr1 152108268 152108268 + Missense_Mutation SNP G G T rs530417912 7316-2170 BS_0B2KNG4A G G c.4949C>A p.Pro1650Gln p.P1650Q ENST00000614923 3/3 65 52 12 33 32 0 TCHH,missense_variant,p.Pro1650Gln,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Pro1650Gln,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 5044/6995 4949/5832 1650/1943 P/Q cCg/cAg rs530417912,COSM4221222 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.54) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34855,hmmpanther:PTHR34855 0.0006 0.002 0.001 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGG . . 1.355e-05 0.0001116 152108268 TCHH . GRCh38 chr1 152109888 152109888 + Missense_Mutation SNP C C A 7316-2170 BS_0B2KNG4A C C c.3329G>T p.Cys1110Phe p.C1110F ENST00000614923 3/3 51 31 5 31 29 0 TCHH,missense_variant,p.Cys1110Phe,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Cys1110Phe,ENST00000368804,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 3424/6995 3329/5832 1110/1943 C/F tGt/tTt COSM895997 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.18) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 1 MODERATE 1 SNV 5 1 1 PASS ACA . . 152109888 CACNA1E . GRCh38 chr1 181732655 181732655 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.2569A>C p.Lys857Gln p.K857Q ENST00000367573 20/48 85 73 10 37 37 0 CACNA1E,missense_variant,p.Lys838Gln,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Lys857Gln,ENST00000621551,;CACNA1E,missense_variant,p.Lys857Gln,ENST00000367567,;CACNA1E,missense_variant,p.Lys838Gln,ENST00000358338,;CACNA1E,missense_variant,p.Lys857Gln,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Lys857Gln,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Lys856Gln,ENST00000357570,;CACNA1E,missense_variant,p.Lys838Gln,ENST00000360108,; C ENSG00000198216 ENST00000367573 Transcript missense_variant 2569/7067 2569/6942 857/2313 K/Q Aag/Cag 1 1 CACNA1E HGNC HGNC:1392 protein_coding YES CCDS55664.1 ENSP00000356545 Q15878 UPI00004588C2 NM_001205293.1 tolerated(0.42) benign(0) 20/48 hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,mobidb-lite MODERATE 1 SNV 1 PASS CAA . . 181732655 IGFN1 . GRCh38 chr1 201211287 201211287 + Missense_Mutation SNP A A T 7316-2170 BS_0B2KNG4A A A c.6394A>T p.Thr2132Ser p.T2132S ENST00000335211 12/24 60 45 5 38 36 0 IGFN1,missense_variant,p.Thr2132Ser,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; T ENSG00000163395 ENST00000335211 Transcript missense_variant 6524/11810 6394/11127 2132/3708 T/S Aca/Tca COSM6238549 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.36) benign(0.074) 12/24 mobidb-lite 1 MODERATE 1 SNV 5 1 PASS TAC . . 201211287 TP53BP2 . GRCh38 chr1 223795901 223795901 + Missense_Mutation SNP A A T novel 7316-2170 BS_0B2KNG4A A A c.2638T>A p.Tyr880Asn p.Y880N ENST00000343537 13/18 58 39 7 39 39 0 TP53BP2,missense_variant,p.Tyr751Asn,ENST00000391878,NM_005426.2;TP53BP2,missense_variant,p.Tyr880Asn,ENST00000343537,NM_001031685.2;TP53BP2,missense_variant,p.Tyr214Asn,ENST00000494100,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000498843,;TP53BP2,downstream_gene_variant,,ENST00000489310,;TP53BP2,3_prime_UTR_variant,,ENST00000483398,;TP53BP2,downstream_gene_variant,,ENST00000464656,;TP53BP2,downstream_gene_variant,,ENST00000490896,; T ENSG00000143514 ENST00000343537 Transcript missense_variant 2930/4651 2638/3405 880/1134 Y/N Tac/Aac 1 -1 TP53BP2 HGNC HGNC:12000 protein_coding YES CCDS44319.1 ENSP00000341957 Q13625 UPI0000D4B5F2 NM_001031685.2 tolerated(0.1) probably_damaging(0.996) 13/18 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF8,Gene3D:1.25.40.20 MODERATE 1 SNV 1 PASS TAT . . 223795901 HNRNPU . GRCh38 chr1 244864059 244864059 + Missense_Mutation SNP A A C 7316-2170 BS_0B2KNG4A A A c.249T>G p.Asp83Glu p.D83E ENST00000640218 1/14 79 69 8 37 34 1 HNRNPU,missense_variant,p.Asp83Glu,ENST00000640218,NM_031844.2;HNRNPU,missense_variant,p.Asp83Glu,ENST00000444376,NM_004501.3;HNRNPU,missense_variant,p.Asp83Glu,ENST00000283179,;HNRNPU,missense_variant,p.Asp11Glu,ENST00000638475,;HNRNPU,upstream_gene_variant,,ENST00000440865,;HNRNPU,upstream_gene_variant,,ENST00000483966,;HNRNPU,upstream_gene_variant,,ENST00000638716,;HNRNPU,upstream_gene_variant,,ENST00000639628,;HNRNPU,upstream_gene_variant,,ENST00000640001,;BX323046.1,upstream_gene_variant,,ENST00000610145,;HNRNPU,upstream_gene_variant,,ENST00000465881,;HNRNPU,missense_variant,p.Asp83Glu,ENST00000640306,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000638952,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000476241,;HNRNPU,upstream_gene_variant,,ENST00000366525,;HNRNPU,upstream_gene_variant,,ENST00000468690,;HNRNPU,upstream_gene_variant,,ENST00000638230,;HNRNPU,upstream_gene_variant,,ENST00000638301,;HNRNPU,upstream_gene_variant,,ENST00000638589,;HNRNPU,upstream_gene_variant,,ENST00000639667,;HNRNPU,upstream_gene_variant,,ENST00000639880,;HNRNPU,upstream_gene_variant,,ENST00000640056,;HNRNPU,upstream_gene_variant,,ENST00000640440,;,regulatory_region_variant,,ENSR00000022956,; C ENSG00000153187 ENST00000640218 Transcript missense_variant 479/6858 249/2478 83/825 D/E gaT/gaG COSM6681420,COSM6681419 1 -1 HNRNPU HGNC HGNC:5048 protein_coding YES CCDS41479.1 ENSP00000491215 Q00839 UPI000040E1C8 NM_031844.2 tolerated(0.71) benign(0) 1/14 Gene3D:1.10.720.30,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF11,mobidb-lite,Low_complexity_(Seg):seg 1,1 MODERATE 1 SNV 1 1,1 1 PASS CAT . . 244864059 OR2M2 . GRCh38 chr1 248180224 248180224 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.239A>C p.Lys80Thr p.K80T ENST00000641211 3/3 86 56 29 45 44 0 OR2M2,missense_variant,p.Lys80Thr,ENST00000641211,;OR2M2,missense_variant,p.Lys80Thr,ENST00000641836,;OR2M2,missense_variant,p.Lys80Thr,ENST00000359682,NM_001004688.1; C ENSG00000198601 ENST00000641211 Transcript missense_variant 386/1229 239/1044 80/347 K/T aAg/aCg 1 1 OR2M2 HGNC HGNC:8268 protein_coding YES CCDS31106.1 ENSP00000492974 Q96R28 A0A126GWI7 UPI00001612E4 deleterious(0) possibly_damaging(0.881) 3/3 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF314,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15421 MODERATE 1 SNV PASS AAG . . 248180224 PPM1G . GRCh38 chr2 27409307 27409307 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.116T>G p.Met39Arg p.M39R ENST00000344034 1/10 100 87 13 32 31 0 PPM1G,missense_variant,p.Met39Arg,ENST00000344034,NM_177983.2;PPM1G,non_coding_transcript_exon_variant,,ENST00000472077,;PPM1G,non_coding_transcript_exon_variant,,ENST00000484925,;,regulatory_region_variant,,ENSR00000114421,; C ENSG00000115241 ENST00000344034 Transcript missense_variant 381/2311 116/1641 39/546 M/R aTg/aGg 1 -1 PPM1G HGNC HGNC:9278 protein_coding YES CCDS1752.1 ENSP00000342778 O15355 Q6IAU5 UPI000000106E NM_177983.2 deleterious(0.01) possibly_damaging(0.855) 1/10 Gene3D:3.60.40.10,Pfam_domain:PF00481,PROSITE_profiles:PS51746,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF544,SMART_domains:SM00332,Superfamily_domains:SSF81606,cd00143 MODERATE 1 SNV 1 PASS CAT . . 27409307 TBR1 . GRCh38 chr2 161423902 161423902 + Missense_Mutation SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.1724T>G p.Met575Arg p.M575R ENST00000389554 6/6 106 92 8 42 42 0 TBR1,missense_variant,p.Met575Arg,ENST00000389554,NM_006593.3;TBR1,missense_variant,p.Met288Arg,ENST00000410035,;TBR1,downstream_gene_variant,,ENST00000411412,;AC009487.1,upstream_gene_variant,,ENST00000437683,;AC009487.1,upstream_gene_variant,,ENST00000444164,;AC009487.3,upstream_gene_variant,,ENST00000505579,;TBR1,downstream_gene_variant,,ENST00000477804,;SLC4A10,upstream_gene_variant,,ENST00000482861,;TBR1,downstream_gene_variant,,ENST00000489530,;SLC4A10,upstream_gene_variant,,ENST00000605990,;SLC4A10,upstream_gene_variant,,ENST00000606386,;TBR1,downstream_gene_variant,,ENST00000463544,;,regulatory_region_variant,,ENSR00000125428,; G ENSG00000136535 ENST00000389554 Transcript missense_variant 2041/4009 1724/2049 575/682 M/R aTg/aGg 1 1 TBR1 HGNC HGNC:11590 protein_coding YES CCDS33310.1 ENSP00000374205 Q16650 UPI0000136A99 NM_006593.3 tolerated(0.06) benign(0.119) 6/6 Low_complexity_(Seg):seg,Pfam_domain:PF16176,hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267 MODERATE 1 SNV 1 1 PASS ATG . . 161423902 NMUR1 . GRCh38 chr2 231530360 231530360 + Translation_Start_Site SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.2T>G p.Met1? p.M1? ENST00000305141 1/3 101 90 9 29 29 0 NMUR1,start_lost,p.Met1?,ENST00000305141,NM_006056.4;,regulatory_region_variant,,ENSR00000131835,; C ENSG00000171596 ENST00000305141 Transcript start_lost,splice_region_variant 136/3298 2/1281 1/426 M/R aTg/aGg 1 -1 NMUR1 HGNC HGNC:4518 protein_coding YES CCDS2486.1 ENSP00000305877 Q9HB89 UPI0000071CAE NM_006056.4 deleterious_low_confidence(0) benign(0) 1/3 HIGH 1 SNV 1 PASS CAT . . 231530360 ZNF717 . GRCh38 chr3 75737961 75737961 + Missense_Mutation SNP G G C rs1272586854 7316-2170 BS_0B2KNG4A G G c.1512C>G p.His504Gln p.H504Q ENST00000478296 4/4 145 126 16 63 61 1 ZNF717,missense_variant,p.His504Gln,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; C ENSG00000227124 ENST00000478296 Transcript missense_variant 1789/3875 1512/2595 504/864 H/Q caC/caG rs1272586854 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS TGT . . 75737961 SAP30 . GRCh38 chr4 173371283 173371283 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.101A>C p.Asn34Thr p.N34T ENST00000296504 1/4 58 51 7 26 26 0 SAP30,missense_variant,p.Asn34Thr,ENST00000296504,NM_003864.3;AC097534.2,upstream_gene_variant,,ENST00000608794,;AC097534.2,upstream_gene_variant,,ENST00000608892,;AC097534.2,upstream_gene_variant,,ENST00000609153,;AC097534.2,upstream_gene_variant,,ENST00000609900,;SAP30,downstream_gene_variant,,ENST00000504618,;,regulatory_region_variant,,ENSR00000176229,; C ENSG00000164105 ENST00000296504 Transcript missense_variant 341/1108 101/663 34/220 N/T aAc/aCc 1 1 SAP30 HGNC HGNC:10532 protein_coding YES CCDS3817.1 ENSP00000296504 O75446 UPI000006F36D NM_003864.3 tolerated_low_confidence(0.28) benign(0.003) 1/4 Low_complexity_(Seg):seg,hmmpanther:PTHR13286,hmmpanther:PTHR13286:SF7 MODERATE 1 SNV 1 PASS AAC . . 173371283 CAST . GRCh38 chr5 96662494 96662494 + Missense_Mutation SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.72T>G p.His24Gln p.H24Q ENST00000395812 1/30 148 128 17 38 38 0 CAST,missense_variant,p.His24Gln,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Gln,ENST00000508830,;CAST,missense_variant,p.His24Gln,ENST00000510756,;CAST,missense_variant,p.His24Gln,ENST00000511097,;CAST,missense_variant,p.His24Gln,ENST00000421689,;CAST,missense_variant,p.His7Gln,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; G ENSG00000153113 ENST00000395812 Transcript missense_variant 258/4506 72/2253 24/750 H/Q caT/caG 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 tolerated_low_confidence(1) benign(0) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS ATG . . 96662494 FBXL17 . GRCh38 chr5 108381121 108381121 + Missense_Mutation SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.571A>C p.Thr191Pro p.T191P ENST00000542267 1/9 119 101 11 46 45 0 FBXL17,missense_variant,p.Thr191Pro,ENST00000542267,NM_001163315.2;FBXL17,5_prime_UTR_variant,,ENST00000359660,;FBXL17,upstream_gene_variant,,ENST00000619412,;FBXL17,upstream_gene_variant,,ENST00000518486,;,regulatory_region_variant,,ENSR00000184969,; G ENSG00000145743 ENST00000542267 Transcript missense_variant 978/5188 571/2106 191/701 T/P Acg/Ccg 1 -1 FBXL17 HGNC HGNC:13615 protein_coding YES CCDS54886.1 ENSP00000437464 Q9UF56 UPI00019B21FB NM_001163315.2 tolerated_low_confidence(0.75) benign(0.425) 1/9 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTA . . 108381121 FBXL17 . GRCh38 chr5 108381691 108381691 + Translation_Start_Site SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.1A>C p.Met1? p.M1? ENST00000542267 1/9 147 130 7 43 43 0 FBXL17,start_lost,p.Met1?,ENST00000542267,NM_001163315.2;FBXL17,upstream_gene_variant,,ENST00000359660,;FBXL17,upstream_gene_variant,,ENST00000619412,;FBXL17,upstream_gene_variant,,ENST00000518486,;,regulatory_region_variant,,ENSR00000184969,; G ENSG00000145743 ENST00000542267 Transcript start_lost 408/5188 1/2106 1/701 M/L Atg/Ctg 1 -1 FBXL17 HGNC HGNC:13615 protein_coding YES CCDS54886.1 ENSP00000437464 Q9UF56 UPI00019B21FB NM_001163315.2 deleterious_low_confidence(0) benign(0.021) 1/9 mobidb-lite HIGH 1 SNV 1 PASS ATA . . 108381691 PROB1 . GRCh38 chr5 139392479 139392479 + Missense_Mutation SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.2603A>C p.Gln868Pro p.Q868P ENST00000434752 1/1 131 113 15 34 30 1 PROB1,missense_variant,p.Gln868Pro,ENST00000434752,NM_001161546.1;SPATA24,downstream_gene_variant,,ENST00000302091,;MZB1,upstream_gene_variant,,ENST00000302125,NM_016459.3;SPATA24,downstream_gene_variant,,ENST00000450845,NM_194296.1;SPATA24,downstream_gene_variant,,ENST00000512761,;SPATA24,downstream_gene_variant,,ENST00000514983,;MZB1,upstream_gene_variant,,ENST00000417694,;MZB1,upstream_gene_variant,,ENST00000503120,;MZB1,upstream_gene_variant,,ENST00000503351,;MZB1,upstream_gene_variant,,ENST00000503481,;MZB1,upstream_gene_variant,,ENST00000509591,;MZB1,upstream_gene_variant,,ENST00000511979,;MZB1,upstream_gene_variant,,ENST00000513389,;,regulatory_region_variant,,ENSR00000317495,; G ENSG00000228672 ENST00000434752 Transcript missense_variant 3235/5122 2603/3048 868/1015 Q/P cAg/cCg 1 -1 PROB1 HGNC HGNC:41906 protein_coding YES CCDS54909.1 ENSP00000416033 E7EW31 UPI00001974A9 NM_001161546.1 deleterious_low_confidence(0.04) possibly_damaging(0.566) 1/1 hmmpanther:PTHR33775,hmmpanther:PTHR33775:SF1,mobidb-lite MODERATE SNV PASS CTG . . 139392479 HNRNPAB . GRCh38 chr5 178204989 178204989 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.152A>C p.Asn51Thr p.N51T ENST00000358344 2/8 136 123 10 35 32 0 HNRNPAB,missense_variant,p.Asn51Thr,ENST00000358344,NM_031266.2;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000504898,;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000506339,;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000506259,;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000355836,NM_004499.3;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000515193,;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000514633,;PHYKPL,downstream_gene_variant,,ENST00000308158,NM_153373.3,NM_001278346.1;PHYKPL,downstream_gene_variant,,ENST00000481811,;PHYKPL,downstream_gene_variant,,ENST00000393488,;PHYKPL,downstream_gene_variant,,ENST00000474052,;PHYKPL,downstream_gene_variant,,ENST00000481436,;PHYKPL,downstream_gene_variant,,ENST00000489262,;PHYKPL,downstream_gene_variant,,ENST00000493197,;PHYKPL,downstream_gene_variant,,ENST00000494126,;HNRNPAB,upstream_gene_variant,,ENST00000504796,;PHYKPL,downstream_gene_variant,,ENST00000510991,;,regulatory_region_variant,,ENSR00000191416,; C ENSG00000197451 ENST00000358344 Transcript missense_variant 409/1796 152/999 51/332 N/T aAt/aCt 1 1 HNRNPAB HGNC HGNC:5034 protein_coding YES CCDS34309.1 ENSP00000351108 Q99729 UPI0000070026 NM_031266.2 tolerated(0.67) benign(0.105) 2/8 Gene3D:3.30.70.330,Pfam_domain:PF08143,hmmpanther:PTHR44212,hmmpanther:PTHR44212:SF2,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 178204989 FAM120B . GRCh38 chr6 170318781 170318781 + Missense_Mutation SNP A A T 7316-2170 BS_0B2KNG4A A A c.1460A>T p.Tyr487Phe p.Y487F ENST00000537664 2/11 76 62 7 39 38 0 FAM120B,missense_variant,p.Tyr464Phe,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Tyr476Phe,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Tyr487Phe,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; T ENSG00000112584 ENST00000537664 Transcript missense_variant 1545/3212 1460/2802 487/933 Y/F tAt/tTt COSM5650900,COSM5650899 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(0.68) benign(0.024) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 1,1 MODERATE 1 SNV 2 1,1 PASS TAT . . 170318781 WIPF3 . GRCh38 chr7 29806680 29806680 + Splice_Site SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.-58+2T>G ENST00000242140 123 110 10 42 41 0 WIPF3,splice_donor_variant,,ENST00000242140,NM_001080529.2;WIPF3,splice_donor_variant,,ENST00000409123,;,regulatory_region_variant,,ENSR00000210274,; G ENSG00000122574 ENST00000242140 Transcript splice_donor_variant 1 1 WIPF3 HGNC HGNC:22004 protein_coding YES CCDS56472.1 ENSP00000242140 A6NGB9 UPI00006C0B79 NM_001080529.2 1/8 HIGH 1 SNV 5 PASS GTA . . 29806680 PKD1L1 . GRCh38 chr7 47815431 47815431 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.6992T>G p.Leu2331Arg p.L2331R ENST00000289672 47/57 121 100 17 40 40 0 PKD1L1,missense_variant,p.Leu2331Arg,ENST00000289672,NM_138295.3;PKD1L1,upstream_gene_variant,,ENST00000433506,;C7orf69,intron_variant,,ENST00000418326,NM_001302627.1;C7orf69,intron_variant,,ENST00000623971,NM_025031.2;PKD1L1,non_coding_transcript_exon_variant,,ENST00000483616,;HUS1,intron_variant,,ENST00000436444,; C ENSG00000158683 ENST00000289672 Transcript missense_variant 7043/9092 6992/8550 2331/2849 L/R cTg/cGg 1 -1 PKD1L1 HGNC HGNC:18053 protein_coding YES CCDS34633.1 ENSP00000289672 Q8TDX9 UPI0000130FA9 NM_138295.3 tolerated(0.05) probably_damaging(0.915) 47/57 hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF145 MODERATE 1 SNV 1 1 PASS CAG . . 47815431 ZNF716 . GRCh38 chr7 57469776 57469776 + Nonsense_Mutation SNP A A T 7316-2170 BS_0B2KNG4A A A c.1315A>T p.Lys439Ter p.K439* ENST00000420713 4/4 116 99 11 47 47 0 ZNF716,stop_gained,p.Lys439Ter,ENST00000420713,NM_001159279.1; T ENSG00000182111 ENST00000420713 Transcript stop_gained 1427/5197 1315/1488 439/495 K/* Aaa/Taa COSM5956808,COSM5956807 1 1 ZNF716 HGNC HGNC:32458 protein_coding YES CCDS55112.1 ENSP00000394248 A6NP11 UPI00004192FD NM_001159279.1 4/4 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 HIGH 1 SNV 4 1,1 PASS TAA . . 57469776 SRRM3 . GRCh38 chr7 76281495 76281495 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.1063A>C p.Thr355Pro p.T355P ENST00000611745 12/15 41 30 11 20 19 0 SRRM3,missense_variant,p.Thr355Pro,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,downstream_gene_variant,,ENST00000479284,;SRRM3,upstream_gene_variant,,ENST00000612155,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 1270/3612 1063/1962 355/653 T/P Acg/Ccg 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 tolerated(0.09) probably_damaging(0.934) 12/15 hmmpanther:PTHR45041,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAC . . 76281495 BRI3 . GRCh38 chr7 98281838 98281838 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.43A>C p.Asn15His p.N15H ENST00000297290 1/3 92 80 7 30 29 0 BRI3,missense_variant,p.Asn15His,ENST00000297290,NM_015379.4;BRI3,missense_variant,p.Asn15His,ENST00000539286,NM_001159491.1;BRI3,non_coding_transcript_exon_variant,,ENST00000473967,;BRI3,intron_variant,,ENST00000456357,;BRI3,non_coding_transcript_exon_variant,,ENST00000474291,;BRI3,upstream_gene_variant,,ENST00000491463,;,regulatory_region_variant,,ENSR00000215527,; C ENSG00000164713 ENST00000297290 Transcript missense_variant 164/780 43/378 15/125 N/H Aac/Cac 1 1 BRI3 HGNC HGNC:1109 protein_coding YES CCDS5656.1 ENSP00000297290 O95415 UPI000012692F NM_015379.4 tolerated(0.21) benign(0.276) 1/3 hmmpanther:PTHR13551 MODERATE 1 SNV 1 PASS CAA . . 98281838 MUC17 . GRCh38 chr7 101039224 101039224 + Missense_Mutation SNP T T A 7316-2170 BS_0B2KNG4A T T c.7808T>A p.Ile2603Lys p.I2603K ENST00000306151 3/13 108 87 6 46 44 0 MUC17,missense_variant,p.Ile2603Lys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile2603Lys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 7872/14247 7808/13482 2603/4493 I/K aTa/aAa COSM6278725 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.09) benign(0.062) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS ATA . . 101039224 VGF . GRCh38 chr7 101163117 101163117 + Missense_Mutation SNP T T G rs1272061532 7316-2170 BS_0B2KNG4A T T c.1727A>C p.Tyr576Ser p.Y576S ENST00000249330 2/2 103 89 11 24 23 1 VGF,missense_variant,p.Tyr576Ser,ENST00000249330,NM_003378.3;VGF,missense_variant,p.Tyr576Ser,ENST00000445482,;VGF,intron_variant,,ENST00000611537,;AP1S1,downstream_gene_variant,,ENST00000337619,NM_001283.3;AP1S1,downstream_gene_variant,,ENST00000429457,;AP1S1,downstream_gene_variant,,ENST00000646560,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000643104,;AP1S1,downstream_gene_variant,,ENST00000443943,;AP1S1,downstream_gene_variant,,ENST00000646950,;,regulatory_region_variant,,ENSR00000215902,; G ENSG00000128564 ENST00000249330 Transcript missense_variant 1967/2575 1727/1848 576/615 Y/S tAt/tCt rs1272061532 1 -1 VGF HGNC HGNC:12684 protein_coding YES CCDS5712.1 ENSP00000249330 O15240 UPI000006FC7B NM_003378.3 tolerated_low_confidence(0.19) benign(0.052) 2/2 Gene3D:1.10.601.10,hmmpanther:PTHR15159,mobidb-lite MODERATE 1 SNV 1 PASS ATA . . 4.745e-06 3.582e-05 101163117 PRSS1 . GRCh38 chr7 142750558 142750558 + Missense_Mutation SNP C C G rs200665515 7316-2170 BS_0B2KNG4A C C c.44C>G p.Ala15Gly p.A15G ENST00000311737 2/5 169 140 25 38 37 0 PRSS1,missense_variant,p.Ala15Gly,ENST00000486171,;PRSS1,missense_variant,p.Ala15Gly,ENST00000311737,NM_002769.4;PRSS1,missense_variant,p.Ala15Gly,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,intron_variant,,ENST00000485223,;PRSS1,upstream_gene_variant,,ENST00000463701,; G ENSG00000204983 ENST00000311737 Transcript missense_variant 50/800 44/744 15/247 A/G gCt/gGt rs200665515,COSM4593757,COSM3723223 1 1 PRSS1 HGNC HGNC:9475 protein_coding YES CCDS5872.1 ENSP00000308720 P07477 UPI0000001309 NM_002769.4 deleterious(0.02) possibly_damaging(0.698) 2/5 hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,Superfamily_domains:SSF50494,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS GCT . . 2.08e-05 5.037e-05 2.751e-05 0.0001844 142750558 PRSS1 . GRCh38 chr7 142750561 142750561 + Missense_Mutation SNP C C T rs202003805 7316-2170 BS_0B2KNG4A C C c.47C>T p.Ala16Val p.A16V ENST00000311737 2/5 168 114 49 39 36 2 PRSS1,missense_variant,p.Ala16Val,ENST00000486171,;PRSS1,missense_variant,p.Ala16Val,ENST00000311737,NM_002769.4;PRSS1,missense_variant,p.Ala16Val,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,intron_variant,,ENST00000485223,;PRSS1,upstream_gene_variant,,ENST00000463701,; T ENSG00000204983 ENST00000311737 Transcript missense_variant 53/800 47/744 16/247 A/V gCc/gTc rs202003805,CM993429,COSM4593760 1 1 PRSS1 HGNC HGNC:9475 protein_coding YES CCDS5872.1 ENSP00000308720 P07477 UPI0000001309 NM_002769.4 tolerated(0.56) benign(0.001) 2/5 hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,Superfamily_domains:SSF50494,Low_complexity_(Seg):seg uncertain_significance,pathogenic 0,0,1 22379635 MODERATE 1 SNV 1 1,1,1 1 PASS GCC . . 8.358e-05 5.967e-05 0.0001027 0.0001475 142750561 PRSS1 . GRCh38 chr7 142750563 142750563 + Missense_Mutation SNP C C T rs770782578 7316-2170 BS_0B2KNG4A C C c.49C>T p.Pro17Ser p.P17S ENST00000311737 2/5 171 143 24 40 39 0 PRSS1,missense_variant,p.Pro17Ser,ENST00000486171,;PRSS1,missense_variant,p.Pro17Ser,ENST00000311737,NM_002769.4;PRSS1,missense_variant,p.Pro17Ser,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,intron_variant,,ENST00000485223,;PRSS1,upstream_gene_variant,,ENST00000463701,; T ENSG00000204983 ENST00000311737 Transcript missense_variant 55/800 49/744 17/247 P/S Ccc/Tcc rs770782578,COSM4593765 1 1 PRSS1 HGNC HGNC:9475 protein_coding YES CCDS5872.1 ENSP00000308720 P07477 UPI0000001309 NM_002769.4 tolerated(0.16) benign(0.023) 2/5 hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,Superfamily_domains:SSF50494,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 1 PASS CCC . . 4.613e-05 0.0001035 7.399e-05 0.0001856 142750563 CCDC166 . GRCh38 chr8 143707721 143707721 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.389T>G p.Met130Arg p.M130R ENST00000542437 1/2 93 81 9 28 27 0 CCDC166,missense_variant,p.Met130Arg,ENST00000542437,NM_001162914.1;AC105219.3,downstream_gene_variant,,ENST00000527579,;ZNF707,upstream_gene_variant,,ENST00000508587,;ZNF707,intron_variant,,ENST00000527561,;,regulatory_region_variant,,ENSR00000333961,; C ENSG00000255181 ENST00000542437 Transcript missense_variant 389/1320 389/1320 130/439 M/R aTg/aGg 1 -1 CCDC166 HGNC HGNC:41910 protein_coding YES CCDS55280.1 ENSP00000437468 P0CW27 UPI00016623E2 NM_001162914.1 deleterious(0.02) benign(0.011) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR14845:SF4,hmmpanther:PTHR14845,Pfam_domain:PF14988 MODERATE 1 SNV 2 PASS CAT . . 143707721 ZNF517 . GRCh38 chr8 144808165 144808165 + Missense_Mutation SNP A A T novel 7316-2170 BS_0B2KNG4A A A c.1249A>T p.Ile417Phe p.I417F ENST00000359971 5/5 117 106 7 32 31 0 ZNF517,missense_variant,p.Ile417Phe,ENST00000359971,NM_213605.2,NM_001317936.1;ZNF517,missense_variant,p.Ile417Phe,ENST00000531720,;ZNF517,missense_variant,p.Ile384Phe,ENST00000529429,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,downstream_gene_variant,,ENST00000528012,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,missense_variant,p.Ile417Phe,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,; T ENSG00000197363 ENST00000359971 Transcript missense_variant 1356/2335 1249/1479 417/492 I/F Atc/Ttc 1 1 ZNF517 HGNC HGNC:27984 protein_coding YES CCDS6434.1 ENSP00000353058 Q6ZMY9 UPI000045770F NM_213605.2,NM_001317936.1 deleterious(0.01) possibly_damaging(0.761) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.28.30,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS GAT . . 144808165 SLC25A25 . GRCh38 chr9 128068331 128068331 + Missense_Mutation SNP T T G rs1048608250 7316-2170 BS_0B2KNG4A T T c.12T>G p.Ser4Arg p.S4R ENST00000373069 1/11 148 128 14 45 45 0 SLC25A25,missense_variant,p.Ser4Arg,ENST00000373068,NM_001006641.3;SLC25A25,missense_variant,p.Ser4Arg,ENST00000373069,NM_001330988.1;NAIF1,upstream_gene_variant,,ENST00000373078,NM_197956.3;NAIF1,upstream_gene_variant,,ENST00000466139,;NAIF1,upstream_gene_variant,,ENST00000470245,;NAIF1,upstream_gene_variant,,ENST00000488519,;,regulatory_region_variant,,ENSR00000241807,; G ENSG00000148339 ENST00000373069 Transcript missense_variant 39/3376 12/1548 4/515 S/R agT/agG rs1048608250 1 1 SLC25A25 HGNC HGNC:20663 protein_coding YES CCDS83420.1 ENSP00000362160 Q6KCM7 UPI00004589A8 NM_001330988.1 tolerated_low_confidence(0.11) benign(0.147) 1/11 MODERATE SNV 5 PASS GTG . . 128068331 CSGALNACT2 . GRCh38 chr10 43155538 43155538 + Missense_Mutation SNP A A G rs200474280 7316-2170 BS_0B2KNG4A A A c.389A>G p.Lys130Arg p.K130R ENST00000374466 2/8 66 28 37 39 39 0 CSGALNACT2,missense_variant,p.Lys130Arg,ENST00000374466,NM_001319654.1,NM_001319656.1,NM_018590.4; G ENSG00000169826 ENST00000374466 Transcript missense_variant 724/3730 389/1629 130/542 K/R aAa/aGa rs200474280,COSM1474613 1 1 CSGALNACT2 HGNC HGNC:24292 protein_coding YES CCDS7201.1 ENSP00000363590 Q8N6G5 A0A0S2Z5F5 UPI000000D725 NM_001319654.1,NM_001319656.1,NM_018590.4 tolerated(0.42) benign(0.01) 2/8 hmmpanther:PTHR12369:SF20,hmmpanther:PTHR12369,Pfam_domain:PF05679,Gene3D:1.20.5.50 0,1 MODERATE 1 SNV 1 0,1 PASS AAA . . 1.625e-05 3.582e-05 43155538 STK32C . GRCh38 chr10 132307592 132307592 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.242T>G p.Val81Gly p.V81G ENST00000298630 1/12 45 32 6 43 42 0 STK32C,missense_variant,p.Val81Gly,ENST00000298630,NM_001318878.1,NM_173575.3;STK32C,intron_variant,,ENST00000368620,;STK32C,upstream_gene_variant,,ENST00000368622,NM_001318879.1;,regulatory_region_variant,,ENSR00000035385,; C ENSG00000165752 ENST00000298630 Transcript missense_variant 349/2086 242/1461 81/486 V/G gTg/gGg 1 -1 STK32C HGNC HGNC:21332 protein_coding YES CCDS7666.1 ENSP00000298630 Q86UX6 A0A140VJW0 UPI0000192113 NM_001318878.1,NM_173575.3 tolerated(0.09) benign(0.005) 1/12 Gene3D:3.30.200.20,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF153 MODERATE 1 SNV 1 PASS CAC . . 132307592 FUT4 . GRCh38 chr11 94544388 94544388 + Missense_Mutation SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.255T>G p.His85Gln p.H85Q ENST00000358752 1/1 118 104 13 48 47 0 FUT4,missense_variant,p.His85Gln,ENST00000358752,NM_002033.3;AP000943.3,downstream_gene_variant,,ENST00000536540,;AP000943.3,downstream_gene_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,upstream_gene_variant,,ENST00000446230,;,regulatory_region_variant,,ENSR00000043469,; G ENSG00000196371 ENST00000358752 Transcript missense_variant 549/6059 255/1593 85/530 H/Q caT/caG 1 1 FUT4 HGNC HGNC:4015 protein_coding YES CCDS8301.1 ENSP00000351602 P22083 UPI000002CC7E NM_002033.3 tolerated_low_confidence(0.41) benign(0) 1/1 mobidb-lite MODERATE SNV PASS ATT . . 94544388 SIK2 . GRCh38 chr11 111602583 111602583 + Missense_Mutation SNP C C T novel 7316-2170 BS_0B2KNG4A C C c.20C>T p.Pro7Leu p.P7L ENST00000304987 1/15 95 62 28 39 38 0 SIK2,missense_variant,p.Pro7Leu,ENST00000304987,NM_015191.2;,regulatory_region_variant,,ENSR00000044878,; T ENSG00000170145 ENST00000304987 Transcript missense_variant 193/9678 20/2781 7/926 P/L cCg/cTg 1 1 SIK2 HGNC HGNC:21680 protein_coding YES CCDS8347.1 ENSP00000305976 Q9H0K1 A0A024R3G7 UPI000006F406 NM_015191.2 deleterious(0.01) benign(0.001) 1/15 PIRSF_domain:PIRSF037014 MODERATE 1 SNV 1 PASS CCG . . 111602583 CD163 . GRCh38 chr12 7486716 7486716 + Missense_Mutation SNP G G T novel 7316-2170 BS_0B2KNG4A G G c.2241C>A p.Ser747Arg p.S747R ENST00000359156 10/17 85 46 38 29 29 0 CD163,missense_variant,p.Ser747Arg,ENST00000359156,NM_004244.5;CD163,missense_variant,p.Ser780Arg,ENST00000396620,;CD163,missense_variant,p.Ser747Arg,ENST00000432237,NM_203416.3;CD163,missense_variant,p.Ser735Arg,ENST00000541972,;CD163,upstream_gene_variant,,ENST00000537626,;CD163,upstream_gene_variant,,ENST00000542280,;CD163,upstream_gene_variant,,ENST00000539632,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;CD163,upstream_gene_variant,,ENST00000538840,; T ENSG00000177575 ENST00000359156 Transcript missense_variant 2444/4268 2241/3471 747/1156 S/R agC/agA 1 -1 CD163 HGNC HGNC:1631 protein_coding YES CCDS8578.1 ENSP00000352071 Q86VB7 UPI00004565CC NM_004244.5 deleterious(0.01) possibly_damaging(0.795) 10/17 PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF392,hmmpanther:PTHR19331,PROSITE_patterns:PS00420,Pfam_domain:PF00530,Gene3D:1.20.5.950,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258 MODERATE 1 SNV 1 PASS AGC . . 7486716 SLC2A3 . GRCh38 chr12 7929745 7929745 + Missense_Mutation SNP C C T rs757430932 7316-2170 BS_0B2KNG4A C C c.800G>A p.Arg267Gln p.R267Q ENST00000075120 6/10 90 78 10 28 28 0 SLC2A3,missense_variant,p.Arg267Gln,ENST00000075120,NM_006931.2;SLC2A3,downstream_gene_variant,,ENST00000544291,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000486749,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000495813,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000490763,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000479059,;SLC2A3,downstream_gene_variant,,ENST00000476634,;SLC2A3,downstream_gene_variant,,ENST00000541671,;SLC2A3,downstream_gene_variant,,ENST00000544936,; T ENSG00000059804 ENST00000075120 Transcript missense_variant 1041/3915 800/1491 267/496 R/Q cGa/cAa rs757430932 1 -1 SLC2A3 HGNC HGNC:11007 protein_coding YES CCDS8586.1 ENSP00000075120 P11169 UPI0000001C7D NM_006931.2 tolerated(0.15) benign(0.133) 6/10 PDB-ENSP_mappings:4zw9.A,PDB-ENSP_mappings:4zwb.A,PDB-ENSP_mappings:4zwc.A,PDB-ENSP_mappings:4zwc.B,PDB-ENSP_mappings:5c65.A,PDB-ENSP_mappings:5c65.B,PROSITE_profiles:PS50850,cd06174,hmmpanther:PTHR23503:SF93,hmmpanther:PTHR23503,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473 MODERATE 1 SNV 1 1 PASS TCG . . 3.66e-05 7.182e-05 0.0001826 7929745 NDFIP2 . GRCh38 chr13 79481301 79481301 + Missense_Mutation SNP A A C rs977440309 7316-2170 BS_0B2KNG4A A A c.98A>C p.Asn33Thr p.N33T ENST00000612570 1/8 80 72 8 33 32 0 NDFIP2,missense_variant,p.Asn33Thr,ENST00000612570,NM_001161407.1,NM_019080.2;NDFIP2,missense_variant,p.Asn33Thr,ENST00000218652,;NDFIP2,upstream_gene_variant,,ENST00000487865,;NDFIP2,upstream_gene_variant,,ENST00000620924,;NDFIP2-AS1,upstream_gene_variant,,ENST00000457171,;NDFIP2,upstream_gene_variant,,ENST00000465762,;,regulatory_region_variant,,ENSR00000064127,; C ENSG00000102471 ENST00000612570 Transcript missense_variant 178/4648 98/1011 33/336 N/T aAc/aCc rs977440309 1 1 NDFIP2 HGNC HGNC:18537 protein_coding YES CCDS31998.1 ENSP00000480798 Q9NV92 UPI000015F962 NM_001161407.1,NM_019080.2 deleterious_low_confidence(0.02) benign(0.001) 1/8 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 7.724e-06 2.127e-05 79481301 GOLGA6L7 . GRCh38 chr15 28842666 28842666 + Missense_Mutation SNP C C T rs28581415 7316-2170 BS_0B2KNG4A C C c.1438G>A p.Glu480Lys p.E480K ENST00000567390 9/9 77 59 6 41 40 0 GOLGA6L7,missense_variant,p.Glu480Lys,ENST00000567390,;PDCD6IPP2,intron_variant,,ENST00000564604,;PDCD6IPP2,intron_variant,,ENST00000566178,;PDCD6IPP2,downstream_gene_variant,,ENST00000563144,;GOLGA6L7,downstream_gene_variant,,ENST00000569815,;,TF_binding_site_variant,,MA0528.1,; T ENSG00000261649 ENST00000567390 Transcript missense_variant 1564/2397 1438/1869 480/622 E/K Gag/Aag rs28581415 1 -1 GOLGA6L7 HGNC HGNC:37442 protein_coding YES ENSP00000490318 A0A1B0GV03 UPI0007E52AB8 tolerated(0.13) unknown(0) 9/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TCC . . 28842666 NSMCE3 . GRCh38 chr15 29269686 29269686 + Missense_Mutation SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.20A>C p.Asn7Thr p.N7T ENST00000332303 1/1 123 111 11 36 36 0 NSMCE3,missense_variant,p.Asn7Thr,ENST00000332303,NM_138704.3;FAM189A1,intron_variant,,ENST00000261275,NM_015307.1;FAM189A1,intron_variant,,ENST00000560082,;,regulatory_region_variant,,ENSR00000074294,; G ENSG00000185115 ENST00000332303 Transcript missense_variant 144/4838 20/915 7/304 N/T aAc/aCc 1 -1 NSMCE3 HGNC HGNC:7677 protein_coding YES CCDS10023.1 ENSP00000330694 Q96MG7 UPI000004E578 NM_138704.3 tolerated_low_confidence(0.08) benign(0.003) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF51,mobidb-lite MODERATE SNV 1 PASS GTT . . 29269686 TYRO3 . GRCh38 chr15 41559277 41559277 + Missense_Mutation SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.20T>G p.Met7Arg p.M7R ENST00000263798 1/19 84 71 10 43 43 0 TYRO3,missense_variant,p.Met7Arg,ENST00000263798,NM_006293.3;TYRO3,intron_variant,,ENST00000559066,;TYRO3,non_coding_transcript_exon_variant,,ENST00000560992,;,regulatory_region_variant,,ENSR00000075648,;ELOCP2,downstream_gene_variant,,ENST00000566760,; G ENSG00000092445 ENST00000263798 Transcript missense_variant 244/8207 20/2673 7/890 M/R aTg/aGg 1 1 TYRO3 HGNC HGNC:12446 protein_coding YES CCDS10080.1 ENSP00000263798 Q06418 UPI000013788A NM_006293.3 deleterious_low_confidence(0) benign(0.009) 1/19 hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATG . . 41559277 C2CD4B . GRCh38 chr15 62164342 62164342 + Missense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.643T>G p.Ser215Ala p.S215A ENST00000380392 2/2 77 60 5 49 48 0 C2CD4B,missense_variant,p.Ser215Ala,ENST00000380392,NM_001007595.2;,regulatory_region_variant,,ENSR00000077574,; C ENSG00000205502 ENST00000380392 Transcript missense_variant 772/1579 643/1095 215/364 S/A Tcc/Gcc 1 -1 C2CD4B HGNC HGNC:33628 protein_coding YES CCDS32259.1 ENSP00000369755 A6NLJ0 UPI0000161A38 NM_001007595.2 tolerated(0.22) benign(0.024) 2/2 hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF343,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GAT . . 62164342 SKOR1 . GRCh38 chr15 67828025 67828025 + Missense_Mutation SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.1906T>G p.Phe636Val p.F636V ENST00000341418 8/15 85 68 10 38 37 0 SKOR1,missense_variant,p.Phe733Val,ENST00000380035,;SKOR1,missense_variant,p.Phe705Val,ENST00000554054,;SKOR1,missense_variant,p.Phe694Val,ENST00000554240,;SKOR1,missense_variant,p.Phe636Val,ENST00000341418,NM_001258024.1;AC009292.2,upstream_gene_variant,,ENST00000558889,; G ENSG00000188779 ENST00000341418 Transcript missense_variant 1906/3332 1906/2607 636/868 F/V Ttt/Gtt 1 1 SKOR1 HGNC HGNC:21326 protein_coding YES CCDS58374.1 ENSP00000343200 P84550 UPI00001987EE NM_001258024.1 tolerated_low_confidence(0.19) benign(0.015) 8/15 hmmpanther:PTHR10005,hmmpanther:PTHR10005:SF8,mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 67828025 NARFL . GRCh38 chr16 737319 737319 + Missense_Mutation SNP G G A novel 7316-2170 BS_0B2KNG4A G G c.173C>T p.Thr58Ile p.T58I ENST00000251588 3/11 121 80 38 29 29 0 NARFL,missense_variant,p.Thr58Ile,ENST00000251588,NM_022493.2;NARFL,5_prime_UTR_variant,,ENST00000540986,NM_001304799.1;NARFL,5_prime_UTR_variant,,ENST00000568545,;NARFL,5_prime_UTR_variant,,ENST00000562421,;NARFL,5_prime_UTR_variant,,ENST00000567403,;NARFL,5_prime_UTR_variant,,ENST00000566614,;NARFL,non_coding_transcript_exon_variant,,ENST00000563534,;NARFL,non_coding_transcript_exon_variant,,ENST00000567455,;NARFL,upstream_gene_variant,,ENST00000562862,;HAGHL,downstream_gene_variant,,ENST00000563156,;NARFL,downstream_gene_variant,,ENST00000565693,;NARFL,downstream_gene_variant,,ENST00000567172,;HAGHL,downstream_gene_variant,,ENST00000569604,;NARFL,upstream_gene_variant,,ENST00000569759,;NARFL,missense_variant,p.Thr58Ile,ENST00000565425,;NARFL,3_prime_UTR_variant,,ENST00000565065,;NARFL,3_prime_UTR_variant,,ENST00000570066,;NARFL,3_prime_UTR_variant,,ENST00000570289,;NARFL,non_coding_transcript_exon_variant,,ENST00000565341,;NARFL,non_coding_transcript_exon_variant,,ENST00000562752,;NARFL,upstream_gene_variant,,ENST00000563051,;NARFL,upstream_gene_variant,,ENST00000564285,;NARFL,upstream_gene_variant,,ENST00000566650,; A ENSG00000103245 ENST00000251588 Transcript missense_variant 190/2112 173/1431 58/476 T/I aCc/aTc 1 -1 NARFL HGNC HGNC:14179 protein_coding YES CCDS10425.1 ENSP00000251588 Q9H6Q4 UPI0000070186 NM_022493.2 tolerated(0.21) benign(0.017) 3/11 Gene3D:3.40.50.1780,hmmpanther:PTHR11615,hmmpanther:PTHR11615:SF103 MODERATE 1 SNV 1 PASS GGT . . 737319 ST3GAL2 . GRCh38 chr16 70381731 70381731 + Missense_Mutation SNP C C T novel 7316-2170 BS_0B2KNG4A C C c.1011G>A p.Met337Ile p.M337I ENST00000393640 6/6 146 109 35 38 37 0 ST3GAL2,missense_variant,p.Met337Ile,ENST00000393640,;ST3GAL2,missense_variant,p.Met337Ile,ENST00000342907,NM_006927.3;AC012184.1,intron_variant,,ENST00000566960,;ST3GAL2,non_coding_transcript_exon_variant,,ENST00000567822,;,regulatory_region_variant,,ENSR00000087556,; T ENSG00000157350 ENST00000393640 Transcript missense_variant 3119/8872 1011/1053 337/350 M/I atG/atA 1 -1 ST3GAL2 HGNC HGNC:10863 protein_coding YES CCDS10890.1 ENSP00000377257 Q16842 A0A024QZA4 UPI0000001C5C benign(0) 6/6 hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF36,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557,Gene3D:3.90.1480.10 MODERATE 1 SNV 1 PASS GCA . . 70381731 NPIPB15 . GRCh38 chr16 74391928 74391928 + Missense_Mutation SNP G G A rs780007640 7316-2170 BS_0B2KNG4A G G c.1180G>A p.Ala394Thr p.A394T ENST00000429990 7/7 120 86 30 34 33 1 NPIPB15,missense_variant,p.Ala394Thr,ENST00000429990,NM_001306094.1;AC009053.4,downstream_gene_variant,,ENST00000614366,; A ENSG00000196436 ENST00000429990 Transcript missense_variant 1276/1428 1180/1332 394/443 A/T Gca/Aca rs780007640,COSM472094,COSM1135829 1 1 NPIPB15 HGNC HGNC:34409 protein_coding YES CCDS76897.1 ENSP00000411140 A6NHN6 UPI000198C783 NM_001306094.1 tolerated_low_confidence(0.15) benign(0.001) 7/7 hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF4,mobidb-lite 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GGC . . 0.001788 0.0007909 0.0004729 0.0003756 0.0004759 0.003223 0.003239 0.0005247 0.0003449 74391928 ACSF3 . GRCh38 chr16 89112086 89112086 + Splice_Region SNP T T C rs76096111 7316-2170 BS_0B2KNG4A T T c.823-6T>C ENST00000614302 90 81 6 25 24 0 ACSF3,splice_region_variant,,ENST00000317447,;ACSF3,splice_region_variant,,ENST00000378345,NM_001284316.1;ACSF3,splice_region_variant,,ENST00000406948,;ACSF3,splice_region_variant,,ENST00000537895,;ACSF3,splice_region_variant,,ENST00000538340,;ACSF3,splice_region_variant,,ENST00000540697,;ACSF3,splice_region_variant,,ENST00000543676,;ACSF3,splice_region_variant,,ENST00000544543,;ACSF3,splice_region_variant,,ENST00000614302,NM_001127214.3,NM_001243279.2,NM_174917.4;AC135782.3,downstream_gene_variant,,ENST00000562782,;ACSF3,upstream_gene_variant,,ENST00000562204,;ACSF3,splice_region_variant,,ENST00000542688,; C ENSG00000176715 ENST00000614302 Transcript splice_region_variant,intron_variant rs76096111,COSM1609786 1 1 ACSF3 HGNC HGNC:27288 protein_coding YES CCDS10974.1 ENSP00000479130 Q4G176 UPI00001AF19E NM_001127214.3,NM_001243279.2,NM_174917.4 4/10 benign 0,1 LOW 1 SNV 5 0,1 1 PASS TTC . . 5.824e-06 0.000118 89112086 TRPV1 . GRCh38 chr17 3583408 3583408 + Missense_Mutation SNP G A A rs224534 7316-2170 BS_0B2KNG4A G G c.1406C>T p.Thr469Ile p.T469I ENST00000572705 10/17 127 35 90 34 27 7 TRPV1,missense_variant,p.Thr469Ile,ENST00000572705,NM_080704.3;TRPV1,missense_variant,p.Thr469Ile,ENST00000571088,NM_018727.5;TRPV1,missense_variant,p.Thr469Ile,ENST00000399759,NM_080705.3;TRPV1,missense_variant,p.Thr469Ile,ENST00000399756,NM_080706.3;TRPV1,missense_variant,p.Thr480Ile,ENST00000425167,;TRPV1,missense_variant,p.Thr459Ile,ENST00000576351,;TRPV1,missense_variant,p.Thr409Ile,ENST00000310522,;AC027796.5,upstream_gene_variant,,ENST00000573568,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;AC027796.3,downstream_gene_variant,,ENST00000572919,; A ENSG00000196689 ENST00000572705 Transcript missense_variant 1681/4166 1406/2520 469/839 T/I aCt/aTt rs224534,COSM4746534,COSM4746533,COSM4746532,COSM3755420,COSM3755419,COSM3755418 1 -1 TRPV1 HGNC HGNC:12716 protein_coding YES CCDS45576.1 ENSP00000459962 Q8NER1 UPI00005B2E0C NM_080704.3 deleterious(0.01) benign(0.056) 10/17 Pfam_domain:PF00520,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF17,TIGRFAM_domain:TIGR00870 0.3780 0.0378 0.353 0.7679 0.3718 0.4601 0.08517 0.3436 0,1,1,1,1,1,1 26555434,22443337,20034385,26841957,25257701,27758864,29643714 MODERATE 1 SNV 1 0,1,1,1,1,1,1 PASS AGT . . 0.3936 0.07044 0.4001 0.3863 0.7707 0.4533 0.3571 0.3732 0.4216 3583408 CTDNEP1 . GRCh38 chr17 7246092 7246092 + Missense_Mutation SNP C C A novel 7316-2170 BS_0B2KNG4A C C c.523G>T p.Val175Phe p.V175F ENST00000573600 7/9 120 93 25 49 49 0 CTDNEP1,missense_variant,p.Val175Phe,ENST00000573600,;CTDNEP1,missense_variant,p.Val175Phe,ENST00000574322,NM_001143775.1;CTDNEP1,missense_variant,p.Val175Phe,ENST00000318988,NM_015343.4;CTDNEP1,missense_variant,p.Val140Phe,ENST00000570828,;CTDNEP1,missense_variant,p.Val175Phe,ENST00000575783,;CTDNEP1,missense_variant,p.Val42Phe,ENST00000572043,;CTDNEP1,missense_variant,p.Val148Phe,ENST00000576613,;GABARAP,upstream_gene_variant,,ENST00000302386,NM_007278.1;GABARAP,upstream_gene_variant,,ENST00000571129,;GABARAP,upstream_gene_variant,,ENST00000571253,;CTDNEP1,downstream_gene_variant,,ENST00000571409,;GABARAP,upstream_gene_variant,,ENST00000573928,;GABARAP,upstream_gene_variant,,ENST00000577035,;AC120057.3,downstream_gene_variant,,ENST00000624722,;CTDNEP1,missense_variant,p.Val175Phe,ENST00000574205,;CTDNEP1,non_coding_transcript_exon_variant,,ENST00000570385,;CTDNEP1,downstream_gene_variant,,ENST00000570380,;CTDNEP1,upstream_gene_variant,,ENST00000570484,;AC120057.2,upstream_gene_variant,,ENST00000570760,;GABARAP,upstream_gene_variant,,ENST00000570856,;AC003688.1,downstream_gene_variant,,ENST00000577138,; A ENSG00000175826 ENST00000573600 Transcript missense_variant 945/1724 523/735 175/244 V/F Gtc/Ttc 1 -1 CTDNEP1 HGNC HGNC:19085 protein_coding YES CCDS11093.1 ENSP00000461749 O95476 UPI000007257A deleterious(0) possibly_damaging(0.905) 7/9 PROSITE_profiles:PS50969,cd07521,hmmpanther:PTHR12210,hmmpanther:PTHR12210:SF70,Pfam_domain:PF03031,TIGRFAM_domain:TIGR02251,Gene3D:3.40.50.1000,SMART_domains:SM00577,Superfamily_domains:SSF56784 MODERATE SNV 5 PASS ACC . . 7246092 KRTAP4-12 . GRCh38 chr17 41123955 41123955 + Missense_Mutation SNP A A C 7316-2170 BS_0B2KNG4A A A c.168T>G p.Cys56Trp p.C56W ENST00000394014 1/1 87 69 7 37 36 0 KRTAP4-12,missense_variant,p.Cys56Trp,ENST00000394014,NM_031854.2;,regulatory_region_variant,,ENSR00000094198,; C ENSG00000213416 ENST00000394014 Transcript missense_variant 213/1077 168/606 56/201 C/W tgT/tgG COSM5459550 1 -1 KRTAP4-12 HGNC HGNC:16776 protein_coding YES CCDS32649.1 ENSP00000377582 Q9BQ66 UPI0000072F19 NM_031854.2 deleterious(0) possibly_damaging(0.905) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF37,hmmpanther:PTHR23262:SF37,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 PASS GAC . . 41123955 MLLT1 . GRCh38 chr19 6222426 6222426 + Missense_Mutation SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.805A>C p.Lys269Gln p.K269Q ENST00000252674 6/12 132 113 17 29 29 0 MLLT1,missense_variant,p.Lys269Gln,ENST00000252674,NM_005934.3; G ENSG00000130382 ENST00000252674 Transcript missense_variant 969/4507 805/1680 269/559 K/Q Aag/Cag 1 -1 MLLT1 HGNC HGNC:7134 protein_coding YES CCDS12160.1 ENSP00000252674 Q03111 UPI000006F7B3 NM_005934.3 tolerated(0.37) possibly_damaging(0.723) 6/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23195:SF14,hmmpanther:PTHR23195 MODERATE 1 SNV 1 1 PASS TTG . . 6222426 SAMD1 . GRCh38 chr19 14090372 14090372 + Missense_Mutation SNP T T G rs987964190 7316-2170 BS_0B2KNG4A T T c.49A>C p.Thr17Pro p.T17P ENST00000533683 1/5 63 47 15 16 16 0 SAMD1,missense_variant,p.Thr17Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 337/2164 49/1299 17/432 T/P Acc/Ccc rs987964190 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.336) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090372 ZNF708 . GRCh38 chr19 21294149 21294149 + Missense_Mutation SNP C C A 7316-2170 BS_0B2KNG4A C C c.817G>T p.Val273Phe p.V273F ENST00000356929 4/4 105 83 7 46 46 0 ZNF708,missense_variant,p.Val273Phe,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; A ENSG00000182141 ENST00000356929 Transcript missense_variant 1015/4004 817/1692 273/563 V/F Gtt/Ttt COSM6445146 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 deleterious(0) benign(0.255) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS ACT . . 21294149 ZNF571 . GRCh38 chr19 37565523 37565523 + Missense_Mutation SNP C C G novel 7316-2170 BS_0B2KNG4A C C c.905G>C p.Ser302Thr p.S302T ENST00000328550 4/5 118 109 6 31 31 0 ZNF571,missense_variant,p.Ser302Thr,ENST00000328550,;ZNF571,missense_variant,p.Ser302Thr,ENST00000593133,NM_001321272.1;ZNF571,missense_variant,p.Ser302Thr,ENST00000451802,NM_016536.4;ZNF571,missense_variant,p.Ser302Thr,ENST00000358744,NM_001290314.1;ZNF571,intron_variant,,ENST00000590751,;ZNF540,intron_variant,,ENST00000592533,NM_152606.4;ZNF571,downstream_gene_variant,,ENST00000590390,;ZNF571-AS1,intron_variant,,ENST00000585578,;ZNF571-AS1,intron_variant,,ENST00000586013,;ZNF571-AS1,intron_variant,,ENST00000586139,;ZNF571-AS1,intron_variant,,ENST00000587121,;ZNF571-AS1,intron_variant,,ENST00000589750,;ZNF571-AS1,intron_variant,,ENST00000589802,;ZNF571-AS1,intron_variant,,ENST00000590838,;ZNF571-AS1,intron_variant,,ENST00000591430,;ZNF571-AS1,intron_variant,,ENST00000592392,;ZNF571-AS1,downstream_gene_variant,,ENST00000588382,;ZNF571-AS1,upstream_gene_variant,,ENST00000591177,; G ENSG00000180479 ENST00000328550 Transcript missense_variant 1024/4113 905/1830 302/609 S/T aGt/aCt 1 -1 ZNF571 HGNC HGNC:25000 protein_coding YES CCDS12505.1 ENSP00000333660 Q7Z3V5 A0A024R0L0 UPI000020220A tolerated(1) benign(0.011) 4/5 Gene3D:2.20.28.30,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF141,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ACT . . 37565523 CIC . GRCh38 chr19 42274101 42274102 + Frame_Shift_Del DEL TC TC - novel 7316-2170 BS_0B2KNG4A TC TC c.2322_2323del p.Arg775LeufsTer42 p.R775Lfs*42 ENST00000572681 2/21 149 112 29 26 26 0 CIC,frameshift_variant,p.Arg775LeufsTer42,ENST00000572681,NM_001304815.1;CIC,downstream_gene_variant,,ENST00000571942,; - ENSG00000079432 ENST00000572681 Transcript frameshift_variant 2386-2387/8218 2318-2319/7545 773/2514 F/X tTC/t 1 1 CIC HGNC HGNC:14214 protein_coding ENSP00000459719 I3L2J0 UPI00025A2C1A NM_001304815.1 2/21 hmmpanther:PTHR13059,hmmpanther:PTHR13059:SF13 HIGH 1 deletion 5 4 1 PASS CTTCT . . 42274100 GRIN2D . GRCh38 chr19 48442724 48442724 + Missense_Mutation SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.2798T>G p.Val933Gly p.V933G ENST00000263269 13/13 113 96 15 38 36 0 GRIN2D,missense_variant,p.Val933Gly,ENST00000263269,NM_000836.2;GRWD1,upstream_gene_variant,,ENST00000253237,NM_031485.3;GRWD1,upstream_gene_variant,,ENST00000598711,;GRWD1,upstream_gene_variant,,ENST00000599949,; G ENSG00000105464 ENST00000263269 Transcript missense_variant 2886/5093 2798/4011 933/1336 V/G gTg/gGg 1 1 GRIN2D HGNC HGNC:4588 protein_coding YES CCDS12719.1 ENSP00000263269 O15399 UPI000013D3DA NM_000836.2 deleterious_low_confidence(0) benign(0.015) 13/13 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR43958,hmmpanther:PTHR43958:SF3 MODERATE 1 SNV 1 1 PASS GTG . . 48442724 EBF4 . GRCh38 chr20 2693147 2693147 + Translation_Start_Site SNP T T G novel 7316-2170 BS_0B2KNG4A T T c.2T>G p.Met1? p.M1? ENST00000380648 1/18 49 40 7 45 42 0 EBF4,start_lost,p.Met1?,ENST00000380648,NM_001110514.1;EBF4,intron_variant,,ENST00000342725,;EBF4,upstream_gene_variant,,ENST00000609451,;EBF4,intron_variant,,ENST00000497450,;EBF4,upstream_gene_variant,,ENST00000469215,;EBF4,start_lost,p.Met1?,ENST00000449079,;EBF4,upstream_gene_variant,,ENST00000609967,;,regulatory_region_variant,,ENSR00000133690,; G ENSG00000088881 ENST00000380648 Transcript start_lost,splice_region_variant 270/2910 2/1797 1/598 M/R aTg/aGg 1 1 EBF4 HGNC HGNC:29278 protein_coding YES CCDS46573.1 ENSP00000370022 E9PEI2 UPI00001C2038 NM_001110514.1 deleterious_low_confidence(0.03) benign(0) 1/18 HIGH 1 SNV 5 PASS ATG . . 2693147 C20orf27 . GRCh38 chr20 3755578 3755578 + Nonsense_Mutation SNP A A C novel 7316-2170 BS_0B2KNG4A A A c.267T>G p.Tyr89Ter p.Y89* ENST00000217195 4/6 119 107 11 48 47 0 C20orf27,stop_gained,p.Tyr64Ter,ENST00000379772,NM_001258429.1;C20orf27,stop_gained,p.Tyr64Ter,ENST00000399672,NM_001258430.1;C20orf27,stop_gained,p.Tyr89Ter,ENST00000217195,NM_001039140.2;C20orf27,stop_gained,p.Tyr58Ter,ENST00000399683,;HSPA12B,downstream_gene_variant,,ENST00000254963,NM_052970.4,NM_001197327.1;HSPA12B,downstream_gene_variant,,ENST00000399701,NM_001318322.1; C ENSG00000101220 ENST00000217195 Transcript stop_gained 419/1302 267/600 89/199 Y/* taT/taG 1 -1 C20orf27 HGNC HGNC:15873 protein_coding YES CCDS33436.1 ENSP00000217195 Q9GZN8 UPI0000470A46 NM_001039140.2 4/6 Pfam_domain:PF15006,hmmpanther:PTHR13287 HIGH SNV 2 PASS CAT . . 3755578 JPH2 . GRCh38 chr20 44160141 44160141 + Missense_Mutation SNP T T G rs1485998965 7316-2170 BS_0B2KNG4A T T c.646A>C p.Lys216Gln p.K216Q ENST00000372980 2/6 149 120 21 40 40 0 JPH2,missense_variant,p.Lys216Gln,ENST00000372980,NM_020433.4; G ENSG00000149596 ENST00000372980 Transcript missense_variant 1519/4787 646/2091 216/696 K/Q Aag/Cag rs1485998965 1 -1 JPH2 HGNC HGNC:14202 protein_coding YES CCDS13325.1 ENSP00000362071 Q9BR39 UPI000012DAC2 NM_020433.4 deleterious(0) benign(0.006) 2/6 PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF16 MODERATE 1 SNV 5 1 PASS TTG . . 3.154e-05 0.0002021 44160141 GNAS . GRCh38 chr20 58854538 58854538 + Missense_Mutation SNP T T G rs867175357 7316-2170 BS_0B2KNG4A T T c.1273T>G p.Phe425Val p.F425V ENST00000371100 1/13 122 96 12 35 33 0 GNAS,missense_variant,p.Phe425Val,ENST00000371100,NM_080425.3;GNAS,missense_variant,p.Phe425Val,ENST00000371099,;GNAS,missense_variant,p.Phe425Val,ENST00000371102,;GNAS,missense_variant,p.His361Gln,ENST00000306120,NM_001077490.2,NM_001309883.1;GNAS,intron_variant,,ENST00000313949,NM_001309840.1,NM_001309861.1;GNAS,intron_variant,,ENST00000371075,NM_016592.3;GNAS,intron_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000453292,;GNAS,upstream_gene_variant,,ENST00000349036,;GNAS,upstream_gene_variant,,ENST00000423897,;GNAS,upstream_gene_variant,,ENST00000450130,;GNAS,upstream_gene_variant,,ENST00000639562,;GNAS-AS1,upstream_gene_variant,,ENST00000424094,;GNAS-AS1,upstream_gene_variant,,ENST00000598163,;RF02131,downstream_gene_variant,,ENST00000614281,;RF02130,downstream_gene_variant,,ENST00000616546,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000481768,;GNAS,intron_variant,,ENST00000462499,;GNAS,intron_variant,,ENST00000467227,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000493744,; G ENSG00000087460 ENST00000371100 Transcript missense_variant 1825/4029 1273/3114 425/1037 F/V Ttc/Gtc rs867175357 1 1 GNAS HGNC HGNC:4392 protein_coding YES CCDS46622.1 ENSP00000360141 Q5JWF2 UPI0000E444AE NM_080425.3 tolerated_low_confidence(0.5) benign(0) 1/13 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ATT . . 58854538 RBMXL3 . GRCh38 chrX 115191209 115191209 + Missense_Mutation SNP T T A 7316-2170 BS_0B2KNG4A T T c.1768T>A p.Cys590Ser p.C590S ENST00000424776 1/1 30 21 5 17 17 0 RBMXL3,missense_variant,p.Cys590Ser,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343012,; A ENSG00000175718 ENST00000424776 Transcript missense_variant 1783/3442 1768/3204 590/1067 C/S Tgc/Agc COSM6285930 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.82) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 1 MODERATE SNV 1 PASS CTG . . 115191209 MT-CO3 . GRCh38 chrM 9804 9804 + Missense_Mutation SNP G G C novel 7316-2170 BS_0B2KNG4A G G c.598G>C p.Ala200Pro p.A200P ENST00000362079 1/1 15935 15254 381 5120 5046 3 MT-CO3,missense_variant,p.Ala200Pro,ENST00000362079,;MT-ND3,upstream_gene_variant,,ENST00000361227,;MT-ND4L,upstream_gene_variant,,ENST00000361335,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,upstream_gene_variant,,ENST00000387429,;MT-TR,upstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,; C ENSG00000198938 ENST00000362079 Transcript missense_variant 598/784 598/784 200/261 A/P Gcc/Ccc 1 1 MT-CO3 HGNC HGNC:7422 protein_coding YES ENSP00000354982 P00414 Q7GIM7 UPI0000000369 deleterious_low_confidence(0) possibly_damaging(0.903) 1/1 Gene3D:1.20.120.80,Pfam_domain:PF00510,PROSITE_profiles:PS50253,hmmpanther:PTHR11403,hmmpanther:PTHR11403:SF7,Superfamily_domains:SSF81452,Transmembrane_helices:TMhelix,cd01665 MODERATE 1 SNV 1 PASS AGC . . 9804 MT-ND4L . GRCh38 chrM 10495 10495 + Missense_Mutation SNP T T C novel 7316-2170 BS_0B2KNG4A T T c.26T>C p.Met9Thr p.M9T ENST00000361335 1/1 14961 14529 310 5334 5290 4 MT-ND4L,missense_variant,p.Met9Thr,ENST00000361335,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,; C ENSG00000212907 ENST00000361335 Transcript missense_variant 26/297 26/297 9/98 M/T aTa/aCa 1 1 MT-ND4L HGNC HGNC:7460 protein_coding YES ENSP00000354728 P03901 Q7GXZ4 UPI0000000AA7 tolerated(1) benign(0.001) 1/1 PDB-ENSP_mappings:5xtc.k,PDB-ENSP_mappings:5xtd.k,Pfam_domain:PF00420,hmmpanther:PTHR11434,hmmpanther:PTHR11434:SF0,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS ATA . . 10495 IFFO2 . GRCh38 chr1 18919710 18919710 + Missense_Mutation SNP C C T novel 7316-490 BS_370TKZ48 C C c.790G>A p.Glu264Lys p.E264K ENST00000455833 3/9 70 33 36 41 40 0 IFFO2,missense_variant,p.Glu264Lys,ENST00000455833,NM_001136265.1;IFFO2,missense_variant,p.Glu53Lys,ENST00000416166,;AL080251.1,missense_variant,p.Glu43Lys,ENST00000494072,; T ENSG00000169991 ENST00000455833 Transcript missense_variant 1144/6188 790/1554 264/517 E/K Gag/Aag 1 -1 IFFO2 HGNC HGNC:27006 protein_coding YES CCDS44076.1 ENSP00000387941 Q5TF58 UPI0000EE7032 NM_001136265.1 deleterious(0) probably_damaging(0.986) 3/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14516,Gene3D:1.20.1170.10,SMART_domains:SM01391 MODERATE 1 SNV 5 PASS TCG . . 18919710 AHDC1 . GRCh38 chr1 27550213 27550219 + Frame_Shift_Del DEL GCGGTGA GCGGTGA - novel 7316-490 BS_370TKZ48 GCGGTGA GCGGTGA c.1897_1903del p.Ser633ProfsTer97 p.S633Pfs*97 ENST00000374011 6/7 63 36 24 42 41 0 AHDC1,frameshift_variant,p.Ser633ProfsTer97,ENST00000374011,NM_001029882.3;AHDC1,frameshift_variant,p.Ser633ProfsTer97,ENST00000247087,;AHDC1,frameshift_variant,p.Ser633ProfsTer97,ENST00000644989,;AHDC1,frameshift_variant,p.Ser633ProfsTer97,ENST00000642245,;AHDC1,frameshift_variant,p.Ser633ProfsTer97,ENST00000642416,;AHDC1,downstream_gene_variant,,ENST00000480033,;AHDC1,downstream_gene_variant,,ENST00000487743,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000643219,;AHDC1,downstream_gene_variant,,ENST00000643308,;AHDC1,downstream_gene_variant,,ENST00000644119,;AHDC1,downstream_gene_variant,,ENST00000644550,;AHDC1,downstream_gene_variant,,ENST00000644833,;AHDC1,downstream_gene_variant,,ENST00000645669,; - ENSG00000126705 ENST00000374011 Transcript frameshift_variant 2866-2872/6438 1897-1903/4812 633-635/1603 SPP/X TCACCGCcc/cc 1 -1 AHDC1 HGNC HGNC:25230 protein_coding YES CCDS30652.1 ENSP00000363123 Q5TGY3 UPI0000418EA1 NM_001029882.3 6/7 Pfam_domain:PF15735,hmmpanther:PTHR15617 HIGH 1 deletion 5 1 PASS GGGCGGTGAG . . 27550212 PRPF38B . GRCh38 chr1 108699696 108699696 + Missense_Mutation SNP T T G novel 7316-490 BS_370TKZ48 T T c.1317T>G p.Ser439Arg p.S439R ENST00000370025 6/6 83 71 6 40 38 0 PRPF38B,missense_variant,p.Ser328Arg,ENST00000370021,;PRPF38B,missense_variant,p.Ser439Arg,ENST00000370025,NM_018061.2;PRPF38B,downstream_gene_variant,,ENST00000370022,;PRPF38B,downstream_gene_variant,,ENST00000467302,;PRPF38B,downstream_gene_variant,,ENST00000485810,; G ENSG00000134186 ENST00000370025 Transcript missense_variant 1586/3693 1317/1641 439/546 S/R agT/agG 1 1 PRPF38B HGNC HGNC:25512 protein_coding YES CCDS788.1 ENSP00000359042 Q5VTL8 UPI000013CF13 NM_018061.2 tolerated_low_confidence(0.08) probably_damaging(0.969) 6/6 hmmpanther:PTHR23142,hmmpanther:PTHR23142:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTC . . 108699696 RAP1A . GRCh38 chr1 111619936 111619936 + Splice_Site SNP T T G rs1030124422 7316-490 BS_370TKZ48 T T c.-28+2T>G ENST00000369709 56 35 15 35 34 0 RAP1A,splice_donor_variant,,ENST00000369709,NM_001291896.1,NM_001010935.2,NM_002884.3;RAP1A,splice_donor_variant,,ENST00000433097,;RAP1A,intron_variant,,ENST00000356415,;,regulatory_region_variant,,ENSR00000011398,; G ENSG00000116473 ENST00000369709 Transcript splice_donor_variant rs1030124422 1 1 RAP1A HGNC HGNC:9855 protein_coding YES CCDS840.1 ENSP00000358723 P62834 A8KAH9 UPI0000001250 NM_001291896.1,NM_001010935.2,NM_002884.3 1/7 HIGH 1 SNV 1 1 PASS GTG . . 111619936 TCF7L1 . GRCh38 chr2 85303973 85303973 + Missense_Mutation SNP A A C rs879664240 7316-490 BS_370TKZ48 A A c.737A>C p.His246Pro p.H246P ENST00000282111 6/12 59 29 23 35 31 3 TCF7L1,missense_variant,p.His246Pro,ENST00000282111,NM_031283.2;TCF7L1,downstream_gene_variant,,ENST00000442813,;TCF7L1,non_coding_transcript_exon_variant,,ENST00000490744,; C ENSG00000152284 ENST00000282111 Transcript missense_variant 1012/2968 737/1767 246/588 H/P cAc/cCc rs879664240,COSM6213822 1 1 TCF7L1 HGNC HGNC:11640 protein_coding YES CCDS1971.1 ENSP00000282111 Q9HCS4 UPI0000136846 NM_031283.2 tolerated(0.54) probably_damaging(0.998) 6/12 Pfam_domain:PF08347,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF25 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAC . . 0.03373 0.04853 0.05059 0.02264 0.08354 0.003482 0.02777 0.04584 0.03443 85303973 IGKV6-21 . GRCh38 chr2 89159966 89159966 + Missense_Mutation SNP G G A rs1334099681 7316-490 BS_370TKZ48 G G c.127C>T p.Arg43Trp p.R43W ENST00000390256 2/2 52 42 10 29 29 0 IGKV6-21,missense_variant,p.Arg43Trp,ENST00000390256,; A ENSG00000211611 ENST00000390256 Transcript missense_variant 191/406 127/342 43/114 R/W Cgg/Tgg rs1334099681 1 -1 IGKV6-21 HGNC HGNC:5836 IG_V_gene YES ENSP00000374791 A0A0C4DH24 UPI0000113B3E deleterious(0.04) benign(0.014) 2/2 MODERATE 1 SNV PASS CGG . . 1.402e-05 3.123e-05 89159966 IGKV6D-21 . GRCh38 chr2 90021970 90021970 + Missense_Mutation SNP C C T rs771723923 7316-490 BS_370TKZ48 C C c.127C>T p.Arg43Trp p.R43W ENST00000436451 2/2 84 67 12 38 37 0 IGKV6D-21,missense_variant,p.Arg43Trp,ENST00000436451,; T ENSG00000225523 ENST00000436451 Transcript missense_variant 194/409 127/342 43/114 R/W Cgg/Tgg rs771723923 1 1 IGKV6D-21 HGNC HGNC:5837 IG_V_gene YES ENSP00000413304 A0A0A0MT36 UPI0000456DFF deleterious(0.04) benign(0.014) 2/2 MODERATE 1 SNV PASS CCG . . 9.376e-06 6.241e-05 3.569e-05 90021970 YTHDC1 . GRCh38 chr4 68337236 68337236 + Missense_Mutation SNP A A C novel 7316-490 BS_370TKZ48 A A c.674T>G p.Val225Gly p.V225G ENST00000579690 4/17 73 60 10 44 42 0 YTHDC1,missense_variant,p.Val225Gly,ENST00000344157,NM_001031732.2;YTHDC1,missense_variant,p.Val225Gly,ENST00000355665,NM_133370.2;YTHDC1,missense_variant,p.Val225Gly,ENST00000579690,;YTHDC1,downstream_gene_variant,,ENST00000505251,;YTHDC1,downstream_gene_variant,,ENST00000510746,; C ENSG00000083896 ENST00000579690 Transcript missense_variant 674/2983 674/2208 225/735 V/G gTg/gGg 1 -1 YTHDC1 HGNC HGNC:30626 protein_coding YES CCDS82929.1 ENSP00000463982 J3QR07 UPI000268B48E tolerated_low_confidence(0.5) benign(0.025) 4/17 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAC . . 68337236 DEPDC1B . GRCh38 chr5 60644829 60644829 + Missense_Mutation SNP C C T rs112568063 7316-490 BS_370TKZ48 C C c.625G>A p.Val209Ile p.V209I ENST00000265036 5/11 90 50 37 28 26 0 DEPDC1B,missense_variant,p.Val209Ile,ENST00000265036,NM_018369.2;DEPDC1B,missense_variant,p.Val209Ile,ENST00000453022,NM_001145208.1;DEPDC1B,3_prime_UTR_variant,,ENST00000512078,;DEPDC1B,downstream_gene_variant,,ENST00000505017,;DEPDC1B,downstream_gene_variant,,ENST00000512452,; T ENSG00000035499 ENST00000265036 Transcript missense_variant 693/2499 625/1590 209/529 V/I Gtc/Atc rs112568063,COSM328169 1 -1 DEPDC1B HGNC HGNC:24902 protein_coding YES CCDS3977.1 ENSP00000265036 Q8WUY9 UPI000020C7D4 NM_018369.2 tolerated(0.26) benign(0) 5/11 PROSITE_profiles:PS50238,cd04405,hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF11 0.0026 0.0098 0.009986 0.0002326 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 0.000772 0.01019 0.0003609 0.0009174 7.192e-05 0.0007342 3.281e-05 60644829 ERAP2 . GRCh38 chr5 96896864 96896864 + Splice_Site SNP G G A rs75364820 7316-490 BS_370TKZ48 G G c.1503+1G>A p.X501_splice ENST00000437043 84 73 9 47 46 1 ERAP2,splice_donor_variant,,ENST00000379904,;ERAP2,splice_donor_variant,,ENST00000437043,NM_022350.3,NM_001130140.1;ERAP2,splice_donor_variant,,ENST00000510373,;ERAP2,downstream_gene_variant,,ENST00000508077,;AC009126.1,intron_variant,,ENST00000501338,;ERAP2,splice_donor_variant,,ENST00000515095,;ERAP2,splice_donor_variant,,ENST00000513084,;ERAP2,splice_donor_variant,,ENST00000513368,;ERAP2,splice_donor_variant,,ENST00000515387,;,regulatory_region_variant,,ENSR00000184386,; A ENSG00000164308 ENST00000437043 Transcript splice_donor_variant rs75364820,COSM4607120 1 1 ERAP2 HGNC HGNC:29499 protein_coding YES CCDS4086.1 ENSP00000400376 Q6P179 UPI0000036336 NM_022350.3,NM_001130140.1 9/18 0,1 HIGH 1 SNV 1 0,1 PASS TGT . . 0.0001684 0.0006473 0.0001073 0.0001624 0.0001944 96896864 SLC35G5 . GRCh38 chr8 11332082 11332082 + Missense_Mutation SNP C C T rs62488717 7316-490 BS_370TKZ48 C C c.976C>T p.Arg326Trp p.R326W ENST00000382435 1/1 83 68 13 45 43 1 SLC35G5,missense_variant,p.Arg326Trp,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; T ENSG00000177710 ENST00000382435 Transcript missense_variant 1195/1321 976/1017 326/338 R/W Cgg/Tgg rs62488717,COSM3718698 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.17) benign(0) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 MODERATE SNV 0,1 PASS CCG . . 0.2934 0.1711 0.2975 0.3221 0.2793 0.3895 0.2956 0.2607 0.2856 11332082 HR . GRCh38 chr8 22125349 22125349 + Missense_Mutation SNP C C T rs200452606 7316-490 BS_370TKZ48 C C c.1712G>A p.Arg571Gln p.R571Q ENST00000381418 5/19 81 48 31 47 45 0 HR,missense_variant,p.Arg571Gln,ENST00000381418,NM_005144.4;HR,missense_variant,p.Arg571Gln,ENST00000312841,NM_018411.4;HR,downstream_gene_variant,,ENST00000519619,;HR,upstream_gene_variant,,ENST00000517699,;HR,upstream_gene_variant,,ENST00000518461,;HR,downstream_gene_variant,,ENST00000522759,; T ENSG00000168453 ENST00000381418 Transcript missense_variant 3193/6336 1712/3570 571/1189 R/Q cGg/cAg rs200452606 1 -1 HR HGNC HGNC:5172 protein_coding YES CCDS6022.1 ENSP00000370826 O43593 UPI000013EB0B NM_005144.4 deleterious(0.02) probably_damaging(0.992) 5/19 hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF4,Low_complexity_(Seg):seg 0.0002 0.001 MODERATE 1 SNV 1 1 PASS CCG . . 4.533e-05 0.000101 22125349 PABPC1 . GRCh38 chr8 100704372 100704372 + Missense_Mutation SNP C C T novel 7316-490 BS_370TKZ48 C C c.1837G>A p.Val613Ile p.V613I ENST00000318607 14/15 80 40 36 47 47 0 PABPC1,missense_variant,p.Val613Ile,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Val568Ile,ENST00000519004,;PABPC1,missense_variant,p.Val581Ile,ENST00000522387,;PABPC1,missense_variant,p.Val499Ile,ENST00000610907,;PABPC1,missense_variant,p.Val146Ile,ENST00000520868,;PABPC1,missense_variant,p.Val160Ile,ENST00000522658,;PABPC1,missense_variant,p.Val19Ile,ENST00000518293,;PABPC1,missense_variant,p.Val113Ile,ENST00000517990,;PABPC1,downstream_gene_variant,,ENST00000517403,;MIR7705,upstream_gene_variant,,ENST00000614758,;PABPC1,downstream_gene_variant,,ENST00000519596,;PABPC1,3_prime_UTR_variant,,ENST00000523636,;PABPC1,downstream_gene_variant,,ENST00000518716,;PABPC1,downstream_gene_variant,,ENST00000519622,;PABPC1,downstream_gene_variant,,ENST00000519848,; T ENSG00000070756 ENST00000318607 Transcript missense_variant 2966/3485 1837/1911 613/636 V/I Gta/Ata 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 deleterious(0.04) benign(0.437) 14/15 Gene3D:1.10.1900.10,Pfam_domain:PF00658,PROSITE_profiles:PS51309,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,SMART_domains:SM00517,Superfamily_domains:SSF63570,TIGRFAM_domain:TIGR01628 MODERATE 1 SNV 1 1 PASS ACA . . 100704372 RECQL4 . GRCh38 chr8 144513211 144513211 + Splice_Region SNP T T G rs767159855 7316-490 BS_370TKZ48 T T c.2463+7A>C ENST00000617875 71 23 16 59 35 0 RECQL4,splice_region_variant,,ENST00000617875,NM_004260.3;RECQL4,splice_region_variant,,ENST00000621189,;RECQL4,intron_variant,,ENST00000534626,;LRRC14,upstream_gene_variant,,ENST00000292524,NM_014665.3;MFSD3,downstream_gene_variant,,ENST00000301327,NM_138431.2;RECQL4,downstream_gene_variant,,ENST00000524998,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000529022,NM_001272036.1;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,downstream_gene_variant,,ENST00000532846,;AC084125.4,intron_variant,,ENST00000580385,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,upstream_gene_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000526749,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534270,;MFSD3,downstream_gene_variant,,ENST00000534427,;RECQL4,downstream_gene_variant,,ENST00000534538,;,regulatory_region_variant,,ENSR00000232261,; G ENSG00000160957 ENST00000617875 Transcript splice_region_variant,intron_variant rs767159855,COSM5759645 1 -1 RECQL4 HGNC HGNC:9949 protein_coding YES CCDS75804.1 ENSP00000482313 O94761 UPI0000E5E124 NM_004260.3 14/20 likely_benign 0,1 LOW 1 SNV 1 1,1 1 PASS GTG . . 0.006712 0.0191 0.006469 0.007187 0.0109 0.007391 0.005699 0.006494 0.00244 144513211 MUC5AC . GRCh38 chr11 1185272 1185272 + Missense_Mutation SNP G G C rs1248838766 7316-490 BS_370TKZ48 G G c.7127G>C p.Arg2376Pro p.R2376P ENST00000621226 31/49 71 55 9 29 29 0 MUC5AC,missense_variant,p.Arg2376Pro,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 7174/17448 7127/16965 2376/5654 R/P cGt/cCt rs1248838766 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.15) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CGT . . 1185272 SHANK2 . GRCh38 chr11 70487681 70487685 + Frame_Shift_Del DEL ATTGG ATTGG - novel 7316-490 BS_370TKZ48 ATTGG ATTGG c.844_848del p.Pro282AlafsTer14 p.P282Afs*14 ENST00000338508 10/11 69 36 29 34 34 0 SHANK2,frameshift_variant,p.Pro274AlafsTer14,ENST00000409161,;SHANK2,frameshift_variant,p.Pro870AlafsTer14,ENST00000601538,NM_012309.4;SHANK2,frameshift_variant,p.Pro282AlafsTer14,ENST00000449833,;SHANK2,frameshift_variant,p.Pro282AlafsTer14,ENST00000338508,NM_133266.4;SHANK2,frameshift_variant,p.Pro149AlafsTer14,ENST00000424924,;SHANK2,intron_variant,,ENST00000357171,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000426687,;SHANK2,downstream_gene_variant,,ENST00000449116,; - ENSG00000162105 ENST00000338508 Transcript frameshift_variant 895-899/7271 844-848/3786 282-283/1261 PM/X CCAATg/g 1 -1 SHANK2 HGNC HGNC:14295 protein_coding YES CCDS76448.1 ENSP00000345193 A6NHU9 UPI0001B09234 NM_133266.4 10/11 hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17 HIGH 1 deletion 5 1 PASS GCATTGGA . . 70487680 UBTFL1 . GRCh38 chr11 90086136 90086136 + Missense_Mutation SNP A A G rs200529838 7316-490 BS_370TKZ48 A A c.187A>G p.Ile63Val p.I63V ENST00000530464 1/1 93 68 24 63 62 1 UBTFL1,missense_variant,p.Ile63Val,ENST00000530464,NM_001143975.1; G ENSG00000255009 ENST00000530464 Transcript missense_variant 187/1182 187/1182 63/393 I/V Att/Gtt rs200529838 1 1 UBTFL1 HGNC HGNC:14533 protein_coding YES CCDS44704.1 ENSP00000485108 P0CB47 UPI0000185F50 NM_001143975.1 tolerated(0.25) benign(0.1) 1/1 hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF227 MODERATE 1 SNV PASS GAT . . 0.1041 0.2885 0.132 0.05837 0.2017 0.1152 0.06775 0.09009 0.09358 90086136 GOLGA6L6 . GRCh38 chr15 20534802 20534802 + Missense_Mutation SNP A A C rs1470770656 7316-490 BS_370TKZ48 A A c.1632T>G p.Asp544Glu p.D544E ENST00000619213 8/9 49 36 10 23 20 0 GOLGA6L6,missense_variant,p.Asp544Glu,ENST00000619213,NM_001145004.2; C ENSG00000277322 ENST00000619213 Transcript missense_variant 1723/4013 1632/2175 544/724 D/E gaT/gaG rs1470770656 1 -1 GOLGA6L6 HGNC HGNC:37225 protein_coding YES CCDS45184.1 ENSP00000480376 A8MZA4 UPI000442CF04 NM_001145004.2 tolerated(1) benign(0) 8/9 mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF20 MODERATE 1 SNV 5 PASS TAT . . 0.01562 0.04785 0.03081 0.007177 0.06431 0.002672 0.01145 0.01952 0.01354 20534802 AC104758.4 . GRCh38 chr15 77916637 77916637 + Splice_Region SNP G G T rs201365798 7316-490 BS_370TKZ48 G G n.111+5G>T ENST00000565869 95 77 13 47 46 0 AC104758.4,splice_region_variant,,ENST00000565869,;RN7SL214P,downstream_gene_variant,,ENST00000487317,;AC104758.3,upstream_gene_variant,,ENST00000563349,;AC104758.3,downstream_gene_variant,,ENST00000567226,;AC104758.3,upstream_gene_variant,,ENST00000568307,;AC104758.3,intron_variant,,ENST00000562938,; T ENSG00000261244 ENST00000565869 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs201365798 1 1 AC104758.4 Clone_based_ensembl_gene lincRNA YES 1/1 LOW 1 SNV 3 PASS CGG . . 77916637 AC104758.4 . GRCh38 chr15 77916638 77916638 + Splice_Region SNP G G C rs202106786 7316-490 BS_370TKZ48 G G n.111+6G>C ENST00000565869 97 79 13 47 46 0 AC104758.4,splice_region_variant,,ENST00000565869,;RN7SL214P,downstream_gene_variant,,ENST00000487317,;AC104758.3,upstream_gene_variant,,ENST00000563349,;AC104758.3,downstream_gene_variant,,ENST00000567226,;AC104758.3,upstream_gene_variant,,ENST00000568307,;AC104758.3,intron_variant,,ENST00000562938,; C ENSG00000261244 ENST00000565869 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs202106786 1 1 AC104758.4 Clone_based_ensembl_gene lincRNA YES 1/1 LOW 1 SNV 3 PASS GGT . . 77916638 NPIPB15 . GRCh38 chr16 74381517 74381519 + In_Frame_Del DEL TCA TCA - novel 7316-490 BS_370TKZ48 TCA TCA c.71_73del p.Ile24del p.I24del ENST00000429990 2/7 84 54 29 44 44 0 NPIPB15,inframe_deletion,p.Ile24del,ENST00000429990,NM_001306094.1;NPIPB15,non_coding_transcript_exon_variant,,ENST00000613038,; - ENSG00000196436 ENST00000429990 Transcript inframe_deletion,splice_region_variant 164-166/1428 68-70/1332 23-24/443 VI/V gTCAtc/gtc 1 1 NPIPB15 HGNC HGNC:34409 protein_coding YES CCDS76897.1 ENSP00000411140 A6NHN6 UPI000198C783 NM_001306094.1 2/7 Pfam_domain:PF06409,hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF4 MODERATE 1 deletion 5 3 PASS GGTCAT . . 74381516 PIEZO1 . GRCh38 chr16 88726325 88726330 + In_Frame_Del DEL GTGCAG GTGCAG - novel 7316-490 BS_370TKZ48 GTGCAG GTGCAG c.3922_3927del p.Leu1308_His1309del p.L1308_H1309del ENST00000301015 27/51 82 45 31 48 47 0 PIEZO1,inframe_deletion,p.Leu1308_His1309del,ENST00000301015,NM_001142864.3;PIEZO1,inframe_deletion,p.Leu6_His7del,ENST00000474606,;AC138028.2,upstream_gene_variant,,ENST00000440406,;PIEZO1,upstream_gene_variant,,ENST00000475586,;PIEZO1,downstream_gene_variant,,ENST00000491917,;PIEZO1,upstream_gene_variant,,ENST00000566414,;,regulatory_region_variant,,ENSR00000089570,; - ENSG00000103335 ENST00000301015 Transcript inframe_deletion 4178-4183/8089 3922-3927/7566 1308-1309/2521 LH/- CTGCAC/- 1 -1 PIEZO1 HGNC HGNC:28993 protein_coding YES CCDS54058.1 ENSP00000301015 Q92508 UPI0001B300F3 NM_001142864.3 27/51 hmmpanther:PTHR13167:SF40,hmmpanther:PTHR13167,Gene3D:1.20.1000.10,Pfam_domain:PF15917 MODERATE 1 deletion 1 1 PASS ACGTGCAGG . . 88726324 TBKBP1 . GRCh38 chr17 47708755 47708755 + Missense_Mutation SNP A A C novel 7316-490 BS_370TKZ48 A A c.1022A>C p.His341Pro p.H341P ENST00000361722 8/9 40 26 9 33 32 1 TBKBP1,missense_variant,p.His341Pro,ENST00000361722,NM_014726.2;TBKBP1,intron_variant,,ENST00000622396,;,regulatory_region_variant,,ENSR00000095201,; C ENSG00000198933 ENST00000361722 Transcript missense_variant 1871/4121 1022/1848 341/615 H/P cAc/cCc 1 1 TBKBP1 HGNC HGNC:30140 protein_coding YES CCDS45722.1 ENSP00000354777 A7MCY6 UPI000006E6FC NM_014726.2 tolerated(0.09) benign(0.003) 8/9 mobidb-lite,hmmpanther:PTHR14432,hmmpanther:PTHR14432:SF2,Pfam_domain:PF12845 MODERATE 1 SNV 1 PASS CAC . . 47708755 COL1A1 . GRCh38 chr17 50187485 50187485 + Missense_Mutation SNP C C T rs41316713 7316-490 BS_370TKZ48 C C c.3422G>A p.Arg1141Gln p.R1141Q ENST00000225964 46/51 54 33 21 35 34 1 COL1A1,missense_variant,p.Arg1141Gln,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; T ENSG00000108821 ENST00000225964 Transcript missense_variant,splice_region_variant 3541/6727 3422/4395 1141/1464 R/Q cGa/cAa rs41316713 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 deleterious(0.01) probably_damaging(0.979) 46/51 Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF569,mobidb-lite,Low_complexity_(Seg):seg 0.0002 0.001 24273577 MODERATE 1 SNV 1 1 PASS TCG . . 1.22e-05 1.793e-05 3.25e-05 50187485 TEPSIN . GRCh38 chr17 81229257 81229257 + Missense_Mutation SNP T T G rs761569820 7316-490 BS_370TKZ48 T T c.1249A>C p.Thr417Pro p.T417P ENST00000300714 12/12 53 32 14 32 29 1 TEPSIN,missense_variant,p.Thr417Pro,ENST00000300714,NM_144679.2;TEPSIN,missense_variant,p.Thr485Pro,ENST00000637944,;TEPSIN,downstream_gene_variant,,ENST00000571094,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000575922,;AC027601.1,upstream_gene_variant,,ENST00000569559,;TEPSIN,3_prime_UTR_variant,,ENST00000571115,;TEPSIN,non_coding_transcript_exon_variant,,ENST00000576090,;TEPSIN,non_coding_transcript_exon_variant,,ENST00000573295,;TEPSIN,downstream_gene_variant,,ENST00000570854,;TEPSIN,downstream_gene_variant,,ENST00000574944,; G ENSG00000167302 ENST00000300714 Transcript missense_variant 1307/2287 1249/1578 417/525 T/P Acc/Ccc rs761569820,COSM4667057,COSM4667056 1 -1 TEPSIN HGNC HGNC:26458 protein_coding YES CCDS11779.1 ENSP00000300714 Q96N21 UPI0000071221 NM_144679.2 tolerated(0.35) benign(0) 12/12 hmmpanther:PTHR21514,hmmpanther:PTHR21514:SF0,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GTG . . 0.009185 0.0113 0.01248 0.008624 0.01142 0.003887 0.008088 0.01163 0.01269 81229257 MED16 . GRCh38 chr19 875275 875279 + Frame_Shift_Del DEL CAGCC CAGCC - rs1428907591 7316-490 BS_370TKZ48 CAGCC CAGCC c.1736_1740del p.Arg579HisfsTer13 p.R579Hfs*13 ENST00000325464 10/16 72 61 6 38 38 0 MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000395808,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000312090,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000325464,NM_005481.2;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000589119,;MED16,frameshift_variant,p.Arg333HisfsTer13,ENST00000607471,;MED16,frameshift_variant,p.Arg510HisfsTer13,ENST00000592943,;MED16,frameshift_variant,p.Arg435HisfsTer13,ENST00000586017,;MED16,frameshift_variant,p.Arg167HisfsTer13,ENST00000606828,;MED16,intron_variant,,ENST00000269814,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,upstream_gene_variant,,ENST00000621073,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000606248,;,regulatory_region_variant,,ENSR00000105561,; - ENSG00000175221 ENST00000325464 Transcript frameshift_variant 1887-1891/2922 1736-1740/2634 579-580/877 RL/X cGGCTG/c rs1428907591,COSM1724576 1 -1 MED16 HGNC HGNC:17556 protein_coding YES CCDS12047.1 ENSP00000325612 Q9Y2X0 UPI0000141671 NM_005481.2 10/16 Pfam_domain:PF11635,hmmpanther:PTHR13224 0,1 HIGH 1 deletion 5 0,1 PASS GTCAGCCG . . 0.00176 0.003278 0.002615 0.00159 0.002705 0.0001441 0.001357 0.002191 0.002236 875274 MUC16 . GRCh38 chr19 8882726 8882726 + Missense_Mutation SNP G G C rs985223764 7316-490 BS_370TKZ48 G G c.41687C>G p.Thr13896Arg p.T13896R ENST00000397910 66/84 64 55 8 40 40 0 MUC16,missense_variant,p.Thr13896Arg,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Thr736Arg,ENST00000599436,;MUC16,missense_variant,p.Thr714Arg,ENST00000601404,;MUC16,missense_variant,p.Thr516Arg,ENST00000596768,; C ENSG00000181143 ENST00000397910 Transcript missense_variant 41891/43816 41687/43524 13896/14507 T/R aCa/aGa rs985223764 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 probably_damaging(0.98) 66/84 PROSITE_profiles:PS50024,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672,Pfam_domain:PF01390,Gene3D:3.30.70.960,Superfamily_domains:SSF82671 MODERATE 1 SNV 5 1 PASS TGT . . 4.065e-06 8.963e-06 8882726 MUC16 . GRCh38 chr19 8882750 8882750 + Missense_Mutation SNP C C T rs796382418 7316-490 BS_370TKZ48 C C c.41663G>A p.Ser13888Asn p.S13888N ENST00000397910 66/84 74 61 12 38 37 0 MUC16,missense_variant,p.Ser13888Asn,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Ser728Asn,ENST00000599436,;MUC16,missense_variant,p.Ser706Asn,ENST00000601404,;MUC16,missense_variant,p.Ser508Asn,ENST00000596768,; T ENSG00000181143 ENST00000397910 Transcript missense_variant 41867/43816 41663/43524 13888/14507 S/N aGc/aAc rs796382418 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 possibly_damaging(0.781) 66/84 PROSITE_profiles:PS50024,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672,Pfam_domain:PF01390,Gene3D:3.30.70.960,Superfamily_domains:SSF82671 MODERATE 1 SNV 5 1 PASS GCT . . 4.064e-06 3.249e-05 8882750 CYP4F2 . GRCh38 chr19 15878886 15878886 + Missense_Mutation SNP G G C rs3952537 7316-490 BS_370TKZ48 G G c.1448C>G p.Ala483Gly p.A483G ENST00000221700 13/13 60 46 12 55 54 0 CYP4F2,missense_variant,p.Ala483Gly,ENST00000221700,NM_001082.4;CYP4F2,missense_variant,p.Ala483Gly,ENST00000011989,;CYP4F2,3_prime_UTR_variant,,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,; C ENSG00000186115 ENST00000221700 Transcript missense_variant 1544/2407 1448/1563 483/520 A/G gCg/gGg rs3952537,COSM225400 1 -1 CYP4F2 HGNC HGNC:2645 protein_coding YES CCDS12336.1 ENSP00000221700 P78329 UPI0000052BE6 NM_001082.4 deleterious(0.02) benign(0.122) 13/13 hmmpanther:PTHR24291:SF112,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGC . . 0.01051 0.0229 0.004629 0.0278 0.008696 0.02648 0.009563 0.006944 0.001296 15878886 CYP4F2 . GRCh38 chr19 15878920 15878920 + Missense_Mutation SNP T T C rs4020346 7316-490 BS_370TKZ48 T T c.1414A>G p.Thr472Ala p.T472A ENST00000221700 13/13 75 49 22 60 54 3 CYP4F2,missense_variant,p.Thr472Ala,ENST00000221700,NM_001082.4;CYP4F2,missense_variant,p.Thr472Ala,ENST00000011989,;CYP4F2,synonymous_variant,p.Arg68=,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,; C ENSG00000186115 ENST00000221700 Transcript missense_variant 1510/2407 1414/1563 472/520 T/A Acg/Gcg rs4020346,COSM230368 1 -1 CYP4F2 HGNC HGNC:2645 protein_coding YES CCDS12336.1 ENSP00000221700 P78329 UPI0000052BE6 NM_001082.4 tolerated(0.29) benign(0.007) 13/13 hmmpanther:PTHR24291:SF112,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTC . . 0.2375 0.3167 0.2927 0.1846 0.2909 0.2938 0.2256 0.2207 0.1307 15878920 B3GNT3 . GRCh38 chr19 17807967 17807967 + Missense_Mutation SNP A A C rs1412759974 7316-490 BS_370TKZ48 A A c.160A>C p.Thr54Pro p.T54P ENST00000318683 2/3 47 32 9 29 27 1 B3GNT3,missense_variant,p.Thr54Pro,ENST00000318683,NM_014256.3;B3GNT3,missense_variant,p.Thr54Pro,ENST00000595387,;B3GNT3,missense_variant,p.Thr54Pro,ENST00000599265,;B3GNT3,missense_variant,p.Thr54Pro,ENST00000600777,; C ENSG00000179913 ENST00000318683 Transcript missense_variant 307/2226 160/1119 54/372 T/P Acc/Ccc rs1412759974,COSM1189939 1 1 B3GNT3 HGNC HGNC:13528 protein_coding YES CCDS12364.1 ENSP00000321874 Q9Y2A9 UPI000007021E NM_014256.3 tolerated(0.38) benign(0) 2/3 hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF23,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CAC . . 0.03819 0.02599 0.1154 0.06533 0.07223 0.01239 0.02188 0.06604 0.04015 17807967 RHPN2 . GRCh38 chr19 32999660 32999660 + Missense_Mutation SNP T T C rs74582927 7316-490 BS_370TKZ48 T T c.1151A>G p.Gln384Arg p.Q384R ENST00000254260 10/15 68 57 6 48 48 0 RHPN2,missense_variant,p.Gln384Arg,ENST00000254260,NM_033103.4;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,non_coding_transcript_exon_variant,,ENST00000544458,;RHPN2,upstream_gene_variant,,ENST00000585641,; C ENSG00000131941 ENST00000254260 Transcript missense_variant 1187/3500 1151/2061 384/686 Q/R cAg/cGg rs74582927,COSM1480906 1 -1 RHPN2 HGNC HGNC:19974 protein_coding YES CCDS12427.1 ENSP00000254260 Q8IUC4 UPI00000747A3 NM_033103.4 deleterious(0.03) probably_damaging(0.982) 10/15 Gene3D:1.25.40.280,Pfam_domain:PF03097,PROSITE_profiles:PS51180,hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF5,SMART_domains:SM01041,cd09249 0.3003 0.2176 0.2401 0.2883 0.32 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 0.2666 0.201 0.1833 0.3284 0.1173 0.3941 0.2996 0.2572 0.2383 32999660 SPRED3 . GRCh38 chr19 38392224 38392226 + In_Frame_Del DEL CCT CCT - rs151129136 7316-490 BS_370TKZ48 CCT CCT c.381_383del p.Ser128del p.S128del ENST00000338502 3/5 69 55 6 31 25 0 SPRED3,inframe_deletion,p.Ser128del,ENST00000338502,NM_001042522.2;SPRED3,inframe_deletion,p.Ser172del,ENST00000587013,;SPRED3,inframe_deletion,p.Ser128del,ENST00000586301,;SPRED3,inframe_deletion,p.Ser128del,ENST00000587947,;GGN,upstream_gene_variant,,ENST00000334928,NM_152657.3;GGN,upstream_gene_variant,,ENST00000586599,;GGN,upstream_gene_variant,,ENST00000587676,;SPRED3,non_coding_transcript_exon_variant,,ENST00000587564,;GGN,upstream_gene_variant,,ENST00000591809,;SPRED3,inframe_deletion,p.Ser97del,ENST00000586958,;SPRED3,non_coding_transcript_exon_variant,,ENST00000590962,;GGN,upstream_gene_variant,,ENST00000585737,; - ENSG00000188766 ENST00000338502 Transcript inframe_deletion 462-464/4778 359-361/1233 120-121/410 PS/P cCCTcc/ccc rs151129136,TMP_ESP_19_38882864_38882866,COSM1481004,COSM1481003 1 1 SPRED3 HGNC HGNC:31041 protein_coding YES CCDS42560.1 ENSP00000345405 Q2MJR0 UPI000040BCE3 NM_001042522.2 3/5 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11202:SF19,hmmpanther:PTHR11202 0.1055 0.1304 0,0,1,1 MODERATE 1 deletion 1 22 0,0,1,1 PASS CCCCTC . . 0.06435 0.05357 0.07972 0.08667 0.06797 0.05943 0.05736 0.06995 0.07716 38392223 MYT1 . GRCh38 chr20 64208018 64208018 + Missense_Mutation SNP T T G rs749248410 7316-490 BS_370TKZ48 T T c.822T>G p.Asp274Glu p.D274E ENST00000328439 7/23 66 49 11 28 27 0 MYT1,missense_variant,p.Asp274Glu,ENST00000536311,;MYT1,missense_variant,p.Asp274Glu,ENST00000328439,NM_004535.2;MYT1,intron_variant,,ENST00000360149,;MYT1,intron_variant,,ENST00000622439,; G ENSG00000196132 ENST00000328439 Transcript missense_variant 1186/5535 822/3366 274/1121 D/E gaT/gaG rs749248410,COSM4294491,COSM4294490 1 1 MYT1 HGNC HGNC:7622 protein_coding YES CCDS13558.1 ENSP00000327465 Q01538 UPI000012FBFA NM_004535.2 tolerated(0.87) benign(0) 7/23 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10816:SF10,hmmpanther:PTHR10816,Gene3D:3.40.50.300 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS ATG . . 8.807e-05 0.0002057 0.0004195 3.279e-05 0.0001192 64208018 ADARB1 . GRCh38 chr21 45184467 45184467 + Splice_Region DEL G G - rs776253735 7316-490 BS_370TKZ48 G G c.1397-7del ENST00000360697 61 41 13 29 28 1 ADARB1,splice_region_variant,,ENST00000360697,;ADARB1,splice_region_variant,,ENST00000389863,NM_015834.3,NM_001160230.1;ADARB1,splice_region_variant,,ENST00000437626,NM_015833.3;ADARB1,intron_variant,,ENST00000348831,NM_001112.3;ADARB1,intron_variant,,ENST00000629643,;ADARB1,intron_variant,,ENST00000389861,;ADARB1,downstream_gene_variant,,ENST00000631642,;ADARB1,splice_region_variant,,ENST00000496664,;ADARB1,intron_variant,,ENST00000492414,; - ENSG00000197381 ENST00000360697 Transcript splice_region_variant,intron_variant rs776253735 1 1 ADARB1 HGNC HGNC:226 protein_coding YES CCDS33589.1 ENSP00000353920 P78563 UPI0000133622 5/9 LOW 1 deletion 1 PASS TTGA . . 0.0003634 0.00102 0.001683 45184466 MKL1 . GRCh38 chr22 40419185 40419185 + Missense_Mutation SNP C C T 7316-490 BS_370TKZ48 C C c.1358G>A p.Gly453Glu p.G453E ENST00000618196 10/13 66 37 28 44 43 0 MKL1,missense_variant,p.Gly418Glu,ENST00000396617,NM_001282662.1;MKL1,missense_variant,p.Gly418Glu,ENST00000355630,NM_020831.4;MKL1,missense_variant,p.Gly368Glu,ENST00000402042,NM_001282661.1;MKL1,missense_variant,p.Gly418Glu,ENST00000407029,NM_001282660.1;MKL1,missense_variant,p.Gly419Glu,ENST00000614754,;MKL1,missense_variant,p.Gly369Glu,ENST00000620651,;MKL1,missense_variant,p.Gly453Glu,ENST00000618196,NM_001318139.1;MKL1,intron_variant,,ENST00000618417,;AL022238.3,downstream_gene_variant,,ENST00000609279,;MKL1,upstream_gene_variant,,ENST00000477468,; T ENSG00000196588 ENST00000618196 Transcript missense_variant 1358/2901 1358/2901 453/966 G/E gGg/gAg COSM6294908 1 -1 MKL1 HGNC HGNC:14334 protein_coding YES CCDS82720.1 ENSP00000479510 W0Z7M9 UPI000387CD38 NM_001318139.1 tolerated(0.14) probably_damaging(0.913) 10/13 hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF6,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 1 PASS CCC . . 40419185 BRD1 . GRCh38 chr22 49794276 49794276 + Missense_Mutation SNP G G A 7316-490 BS_370TKZ48 G G c.2117C>T p.Pro706Leu p.P706L ENST00000457780 6/12 69 36 30 39 39 0 BRD1,missense_variant,p.Pro706Leu,ENST00000457780,;BRD1,missense_variant,p.Pro706Leu,ENST00000216267,;BRD1,missense_variant,p.Pro706Leu,ENST00000404760,NM_001304808.1,NM_001349941.1;BRD1,missense_variant,p.Pro706Leu,ENST00000404034,NM_001304809.1;BRD1,missense_variant,p.Pro338Leu,ENST00000438393,; A ENSG00000100425 ENST00000457780 Transcript missense_variant 2604/4997 2117/3570 706/1189 P/L cCc/cTc COSM5899791,COSM5899790 1 -1 BRD1 HGNC HGNC:1102 protein_coding YES CCDS77686.1 ENSP00000410042 O95696 A0A024R4V5 UPI0000367106 deleterious(0.02) probably_damaging(0.999) 6/12 hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF17 1,1 MODERATE 1 SNV 5 1,1 PASS GGG . . 49794276 ZNF736P9Y . GRCh38 chrY 8070121 8070121 + Splice_Region DEL A A - novel 7316-490 BS_370TKZ48 A A n.123-3del ENST00000439586 34 6 19 24 19 0 ZNF736P9Y,splice_region_variant,,ENST00000439586,; - ENSG00000239893 ENST00000439586 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 ZNF736P9Y HGNC HGNC:38408 processed_pseudogene YES 1/1 LOW 1 deletion PASS TGAA . . 8070120 CFAP74 . GRCh38 chr1 1926492 1926494 + In_Frame_Del DEL TCT TCT - rs771897343 7316-451 BS_1NWVFBTQ TCT TCT c.3791_3793del p.Lys1264del p.K1264del ENST00000493964 31/38 73 55 13 35 33 0 CFAP74,inframe_deletion,p.Lys1264del,ENST00000493964,NM_001304360.1;CFAP74,inframe_deletion,p.Lys681del,ENST00000642590,;CFAP74,non_coding_transcript_exon_variant,,ENST00000464311,;CFAP74,non_coding_transcript_exon_variant,,ENST00000412120,;,regulatory_region_variant,,ENSR00000000257,; - ENSG00000142609 ENST00000493964 Transcript inframe_deletion 3947-3949/5247 3791-3793/4755 1264-1265/1584 KI/I aAGAtc/atc rs771897343 1 -1 CFAP74 HGNC HGNC:29368 protein_coding YES ENSP00000417061 Q9C0B2 UPI0004620AE2 NM_001304360.1 31/38 Gene3D:2.60.40.10,hmmpanther:PTHR22538,hmmpanther:PTHR22538:SF0 MODERATE 1 deletion 5 PASS GATCTT . . 4.27e-05 0.0001327 1.97e-05 0.000133 1926491 RPL22 . GRCh38 chr1 6186768 6186790 + Frame_Shift_Del DEL ACGTAGATTATTCTTCTTCAAAT ACGTAGATTATTCTTCTTCAAAT - novel 7316-451 BS_1NWVFBTQ ACGTAGATTATTCTTCTTCAAAT ACGTAGATTATTCTTCTTCAAAT c.269_291del p.Tyr90Ter p.Y90* ENST00000234875 4/4 70 45 25 37 37 0 RPL22,frameshift_variant,p.Tyr90Ter,ENST00000234875,NM_000983.3;RPL22,frameshift_variant,p.Tyr57Ter,ENST00000497965,;RPL22,frameshift_variant,p.Tyr57Ter,ENST00000471204,;RPL22,frameshift_variant,p.Tyr57Ter,ENST00000465387,;RPL22,intron_variant,,ENST00000484532,;RPL22,non_coding_transcript_exon_variant,,ENST00000480661,; - ENSG00000116251 ENST00000234875 Transcript frameshift_variant 308-330/2078 269-291/387 90-97/128 YLKKNNLR/X tATTTGAAGAAGAATAATCTACGT/t 1 -1 RPL22 HGNC HGNC:10315 protein_coding YES CCDS58.1 ENSP00000346088 P35268 UPI000015A487 NM_000983.3 4/4 PDB-ENSP_mappings:4ug0.LU,PDB-ENSP_mappings:4v6x.CU,PDB-ENSP_mappings:5aj0.AU,PDB-ENSP_mappings:5lks.LU,PDB-ENSP_mappings:5t2c.O,Pfam_domain:PF01776,hmmpanther:PTHR10064,hmmpanther:PTHR10064:SF2,Low_complexity_(Seg):seg HIGH 1 deletion 1 1 PASS TCACGTAGATTATTCTTCTTCAAATA . . 6186767 PRAMEF19 . GRCh38 chr1 13369246 13369246 + Missense_Mutation SNP T T C rs1286207864 7316-451 BS_1NWVFBTQ T T c.1054A>G p.Asn352Asp p.N352D ENST00000376101 3/3 69 57 9 30 29 0 PRAMEF19,missense_variant,p.Asn352Asp,ENST00000376101,NM_001099790.2; C ENSG00000204480 ENST00000376101 Transcript missense_variant 1054/1233 1054/1233 352/410 N/D Aac/Gac rs1286207864 1 -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8 UPI0001661E5E NM_001099790.2 tolerated(0.5) benign(0) 3/3 PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF76 MODERATE 1 SNV 5 PASS TTG . . 2.741e-05 4.182e-05 7.93e-05 0.0001307 13369246 AHDC1 . GRCh38 chr1 27548842 27548844 + In_Frame_Del DEL AGG AGG - rs772410706 7316-451 BS_1NWVFBTQ AGG AGG c.3272_3274del p.Ser1091del p.S1091del ENST00000374011 6/7 58 47 6 32 28 0 AHDC1,inframe_deletion,p.Ser1091del,ENST00000374011,NM_001029882.3;AHDC1,inframe_deletion,p.Ser1091del,ENST00000247087,;AHDC1,inframe_deletion,p.Ser1091del,ENST00000644989,;AHDC1,inframe_deletion,p.Ser1091del,ENST00000642245,;AHDC1,inframe_deletion,p.Ser1091del,ENST00000642416,;AHDC1,downstream_gene_variant,,ENST00000480033,;AHDC1,downstream_gene_variant,,ENST00000487743,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000643219,;AHDC1,downstream_gene_variant,,ENST00000643308,;AHDC1,downstream_gene_variant,,ENST00000644119,;AHDC1,downstream_gene_variant,,ENST00000644550,;AHDC1,downstream_gene_variant,,ENST00000644833,;AHDC1,downstream_gene_variant,,ENST00000645669,; - ENSG00000126705 ENST00000374011 Transcript inframe_deletion 4241-4243/6438 3272-3274/4812 1091-1092/1603 SF/F tCCTtc/ttc rs772410706,TMP_ESP_1_27875353_27875358,COSM5284720 1 -1 AHDC1 HGNC HGNC:25230 protein_coding YES CCDS30652.1 ENSP00000363123 Q5TGY3 UPI0000418EA1 NM_001029882.3 6/7 hmmpanther:PTHR15617,Low_complexity_(Seg):seg 0.01847 0.01291 0,0,1 MODERATE 1 deletion 5 0,0,1 1 PASS GAAGGA . . 0.0009962 0.005464 0.001172 0.0009853 0.0005347 0.0007083 0.0005688 0.0009612 0.0006473 27548841 PRKACB . GRCh38 chr1 84196681 84196681 + Missense_Mutation SNP A A G novel 7316-451 BS_1NWVFBTQ A A c.626A>G p.Asp209Gly p.D209G ENST00000370685 6/10 83 69 10 29 29 0 PRKACB,missense_variant,p.Asp162Gly,ENST00000370689,NM_002731.3;PRKACB,missense_variant,p.Asp209Gly,ENST00000370685,NM_182948.3;PRKACB,missense_variant,p.Asp168Gly,ENST00000614872,NM_001242860.2;PRKACB,missense_variant,p.Asp168Gly,ENST00000394838,;PRKACB,missense_variant,p.Asp166Gly,ENST00000370682,NM_001242859.2;PRKACB,missense_variant,p.Asp150Gly,ENST00000610703,NM_001242858.2;PRKACB,missense_variant,p.Asp149Gly,ENST00000610457,NM_001242862.2;PRKACB,missense_variant,p.Asp132Gly,ENST00000394839,NM_001242861.2;PRKACB,missense_variant,p.Asp168Gly,ENST00000370680,NM_001300915.1;PRKACB,missense_variant,p.Asp162Gly,ENST00000370688,NM_001300916.1,NM_207578.2;PRKACB,missense_variant,p.Asp169Gly,ENST00000446538,NM_001242857.2;PRKACB,missense_variant,p.Asp165Gly,ENST00000450730,;PRKACB,missense_variant,p.Asp150Gly,ENST00000370684,NM_001300917.1;PRKACB,missense_variant,p.Asp157Gly,ENST00000413538,;PRKACB,missense_variant,p.Asp149Gly,ENST00000417530,;PRKACB,missense_variant,p.Asp158Gly,ENST00000432111,;PRKACB,missense_variant,p.Asp166Gly,ENST00000436133,;PRKACB,non_coding_transcript_exon_variant,,ENST00000470673,; G ENSG00000142875 ENST00000370685 Transcript missense_variant 717/4481 626/1197 209/398 D/G gAc/gGc 1 1 PRKACB HGNC HGNC:9381 protein_coding YES CCDS693.1 ENSP00000359719 P22694 UPI00001A9CCB NM_182948.3 tolerated(0.09) benign(0.05) 6/10 PROSITE_profiles:PS50011,cd14209,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF116,Pfam_domain:PF00069,PIRSF_domain:PIRSF000654,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 PASS GAC . . 84196681 DENND2C . GRCh38 chr1 114599380 114599380 + Missense_Mutation SNP G G A rs753234702 7316-451 BS_1NWVFBTQ G G c.2177C>T p.Pro726Leu p.P726L ENST00000393274 16/21 90 71 17 19 19 0 DENND2C,missense_variant,p.Pro726Leu,ENST00000393274,NM_001256404.1;DENND2C,missense_variant,p.Pro669Leu,ENST00000393276,NM_198459.3;DENND2C,missense_variant,p.Pro726Leu,ENST00000393277,;DENND2C,non_coding_transcript_exon_variant,,ENST00000481894,; A ENSG00000175984 ENST00000393274 Transcript missense_variant 2803/6163 2177/2787 726/928 P/L cCa/cTa rs753234702 1 -1 DENND2C HGNC HGNC:24748 protein_coding YES CCDS58018.1 ENSP00000376955 Q68D51 UPI000048AF71 NM_001256404.1 deleterious(0) probably_damaging(1) 16/21 Pfam_domain:PF02141,PROSITE_profiles:PS50211,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF6,SMART_domains:SM00799 MODERATE 1 SNV 5 PASS TGG . . 4.061e-06 5.801e-05 114599380 TCHH . GRCh38 chr1 152107840 152107840 + Missense_Mutation SNP A A G rs1272426853 7316-451 BS_1NWVFBTQ A A c.5377T>C p.Ser1793Pro p.S1793P ENST00000614923 3/3 122 93 11 29 29 0 TCHH,missense_variant,p.Ser1793Pro,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Ser1793Pro,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 5472/6995 5377/5832 1793/1943 S/P Tct/Cct rs1272426853 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.24) benign(0.029) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS GAC . . 8.131e-06 1.791e-05 152107840 TCHH . GRCh38 chr1 152109324 152109324 + Missense_Mutation SNP T T C novel 7316-451 BS_1NWVFBTQ T T c.3893A>G p.Gln1298Arg p.Q1298R ENST00000614923 3/3 96 55 37 29 27 0 TCHH,missense_variant,p.Gln1298Arg,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Gln1298Arg,ENST00000368804,;,regulatory_region_variant,,ENSR00000254425,; C ENSG00000159450 ENST00000614923 Transcript missense_variant 3988/6995 3893/5832 1298/1943 Q/R cAg/cGg 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.43) benign(0.011) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS CTG . . 152109324 CCT3 . GRCh38 chr1 156317438 156317438 + Missense_Mutation SNP A A G novel 7316-451 BS_1NWVFBTQ A A c.869T>C p.Val290Ala p.V290A ENST00000295688 9/14 88 76 9 35 34 0 CCT3,missense_variant,p.Val290Ala,ENST00000295688,NM_005998.4;CCT3,missense_variant,p.Val245Ala,ENST00000472765,;CCT3,missense_variant,p.Val252Ala,ENST00000368259,NM_001008800.2;CCT3,downstream_gene_variant,,ENST00000413555,;CCT3,downstream_gene_variant,,ENST00000446905,;CCT3,downstream_gene_variant,,ENST00000478640,;CCT3,downstream_gene_variant,,ENST00000496684,;CCT3,downstream_gene_variant,,ENST00000533194,;CCT3,intron_variant,,ENST00000368261,;CCT3,downstream_gene_variant,,ENST00000463132,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;CCT3,downstream_gene_variant,,ENST00000490221,; G ENSG00000163468 ENST00000295688 Transcript missense_variant 1150/2150 869/1638 290/545 V/A gTc/gCc 1 -1 CCT3 HGNC HGNC:1616 protein_coding YES CCDS1140.2 ENSP00000295688 P49368 UPI000040EEFE NM_005998.4 deleterious(0) possibly_damaging(0.895) 9/14 cd03337,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF24,Gene3D:3.50.7.10,Pfam_domain:PF00118,TIGRFAM_domain:TIGR02344,Superfamily_domains:SSF52029 MODERATE 1 SNV 1 PASS GAC . . 156317438 KIFAP3 . GRCh38 chr1 170024461 170024461 + Missense_Mutation SNP A A G novel 7316-451 BS_1NWVFBTQ A A c.977T>C p.Phe326Ser p.F326S ENST00000361580 9/20 114 102 8 37 35 0 KIFAP3,missense_variant,p.Phe286Ser,ENST00000367765,NM_001204517.1;KIFAP3,missense_variant,p.Phe248Ser,ENST00000538366,NM_001204514.1;KIFAP3,missense_variant,p.Phe326Ser,ENST00000361580,NM_014970.3;KIFAP3,missense_variant,p.Phe282Ser,ENST00000367767,NM_001204516.1;AL356475.1,intron_variant,,ENST00000440321,;KIFAP3,downstream_gene_variant,,ENST00000474292,; G ENSG00000075945 ENST00000361580 Transcript missense_variant 1205/2957 977/2379 326/792 F/S tTc/tCc 1 -1 KIFAP3 HGNC HGNC:17060 protein_coding YES CCDS1288.1 ENSP00000354560 Q92845 UPI000006CD6C NM_014970.3 deleterious(0) probably_damaging(0.998) 9/20 Gene3D:1.25.10.10,Pfam_domain:PF05804,hmmpanther:PTHR15605,SMART_domains:SM01297,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS GAA . . 170024461 AXDND1 . GRCh38 chr1 179378637 179378637 + Missense_Mutation SNP G G T 7316-451 BS_1NWVFBTQ G G c.375G>T p.Arg125Ser p.R125S ENST00000367618 5/26 95 60 31 36 35 0 AXDND1,missense_variant,p.Arg125Ser,ENST00000367618,NM_144696.5;AXDND1,missense_variant,p.Arg125Ser,ENST00000617277,;AXDND1,missense_variant,p.Arg59Ser,ENST00000434088,;AXDND1,missense_variant,p.Arg83Ser,ENST00000509175,;AXDND1,missense_variant,p.Arg83Ser,ENST00000511889,;AXDND1,splice_region_variant,,ENST00000461179,;AXDND1,splice_region_variant,,ENST00000510593,;AXDND1,missense_variant,p.Arg125Ser,ENST00000511157,; T ENSG00000162779 ENST00000367618 Transcript missense_variant,splice_region_variant 762/3642 375/3039 125/1012 R/S agG/agT COSM6123009,COSM6123008 1 1 AXDND1 HGNC HGNC:26564 protein_coding YES CCDS30948.1 ENSP00000356590 Q5T1B0 UPI000022AC91 NM_144696.5 deleterious(0) probably_damaging(0.986) 5/26 hmmpanther:PTHR23052 1,1 MODERATE 1 SNV 1 1,1 PASS GGG . . 179378637 CSRP1 . GRCh38 chr1 201496207 201496207 + Missense_Mutation SNP A A G novel 7316-451 BS_1NWVFBTQ A A c.97T>C p.Ser33Pro p.S33P ENST00000367306 3/7 110 100 7 27 27 0 CSRP1,missense_variant,p.Ser33Pro,ENST00000367306,;CSRP1,missense_variant,p.Ser33Pro,ENST00000340006,NM_004078.2,NM_001193570.1;CSRP1,missense_variant,p.Ser33Pro,ENST00000532460,NM_001193572.1;CSRP1,missense_variant,p.Ser33Pro,ENST00000533432,NM_001193571.1;CSRP1,missense_variant,p.Ser33Pro,ENST00000531916,;CSRP1,5_prime_UTR_variant,,ENST00000524951,;CSRP1,intron_variant,,ENST00000526256,;CSRP1,intron_variant,,ENST00000526723,;CSRP1,non_coding_transcript_exon_variant,,ENST00000458271,;CSRP1,non_coding_transcript_exon_variant,,ENST00000527573,;CSRP1,non_coding_transcript_exon_variant,,ENST00000529975,;CSRP1,non_coding_transcript_exon_variant,,ENST00000526317,;CSRP1,intron_variant,,ENST00000530120,;CSRP1,non_coding_transcript_exon_variant,,ENST00000532313,;CSRP1,non_coding_transcript_exon_variant,,ENST00000471596,;CSRP1,non_coding_transcript_exon_variant,,ENST00000481851,;CSRP1,intron_variant,,ENST00000533188,;CSRP1,upstream_gene_variant,,ENST00000527662,;CSRP1,upstream_gene_variant,,ENST00000533402,;,regulatory_region_variant,,ENSR00000018107,; G ENSG00000159176 ENST00000367306 Transcript missense_variant 461/2129 97/582 33/193 S/P Tcc/Ccc 1 -1 CSRP1 HGNC HGNC:2469 protein_coding YES CCDS1413.1 ENSP00000356275 P21291 UPI000013DFD4 tolerated(0.24) benign(0.003) 3/7 Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24215,hmmpanther:PTHR24215:SF23,SMART_domains:SM00132,Superfamily_domains:SSF57716,cd09479 MODERATE 1 SNV 5 PASS GAT . . 201496207 CR2 . GRCh38 chr1 207476387 207476387 + Missense_Mutation SNP G G A 7316-451 BS_1NWVFBTQ G G c.2870G>A p.Gly957Glu p.G957E ENST00000367057 15/20 89 52 34 39 39 0 CR2,missense_variant,p.Gly957Glu,ENST00000367057,NM_001006658.2;CR2,missense_variant,p.Gly898Glu,ENST00000367058,NM_001877.4;CR2,intron_variant,,ENST00000367059,;CR2,downstream_gene_variant,,ENST00000640301,;CR2,downstream_gene_variant,,ENST00000475194,; A ENSG00000117322 ENST00000367057 Transcript missense_variant 3059/4240 2870/3279 957/1092 G/E gGa/gAa COSM5719472 1 1 CR2 HGNC HGNC:2336 protein_coding YES CCDS31007.1 ENSP00000356024 P20023 UPI0000366600 NM_001006658.2 deleterious(0.02) probably_damaging(0.971) 15/20 PROSITE_profiles:PS50923,cd00033,hmmpanther:PTHR19325:SF391,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535 1 MODERATE 1 SNV 1 1 1 PASS GGA . . 207476387 EML6 . GRCh38 chr2 54895312 54895312 + Missense_Mutation SNP C C T novel 7316-451 BS_1NWVFBTQ C C c.2894C>T p.Thr965Ile p.T965I ENST00000356458 20/41 68 52 15 31 30 0 EML6,missense_variant,p.Thr965Ile,ENST00000356458,NM_001039753.2; T ENSG00000214595 ENST00000356458 Transcript missense_variant 3414/8320 2894/5877 965/1958 T/I aCt/aTt 1 1 EML6 HGNC HGNC:35412 protein_coding YES CCDS46286.1 ENSP00000348842 Q6ZMW3 UPI00006C0432 NM_001039753.2 tolerated(0.34) benign(0.006) 20/41 Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8,Superfamily_domains:SSF50978 MODERATE 1 SNV 5 PASS ACT . . 54895312 SCN9A . GRCh38 chr2 166280563 166280563 + Missense_Mutation SNP A A G rs200879772 7316-451 BS_1NWVFBTQ A A c.2104T>C p.Trp702Arg p.W702R ENST00000409672 14/27 69 40 28 36 36 0 SCN9A,missense_variant,p.Trp702Arg,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Trp713Arg,ENST00000303354,;SCN9A,missense_variant,p.Trp702Arg,ENST00000645907,;SCN9A,missense_variant,p.Trp713Arg,ENST00000642356,;SCN9A,missense_variant,p.Trp702Arg,ENST00000644316,;SCN9A,missense_variant,p.Trp713Arg,ENST00000409435,;SCN9A,missense_variant,p.Trp702Arg,ENST00000454569,;SCN9A,upstream_gene_variant,,ENST00000645283,;AC010127.1,intron_variant,,ENST00000447809,; G ENSG00000169432 ENST00000409672 Transcript missense_variant 2451/9768 2104/5934 702/1977 W/R Tgg/Cgg rs200879772 1 -1 SCN9A HGNC HGNC:10597 protein_coding YES CCDS46441.1 ENSP00000386306 Q15858 UPI0000140AC7 NM_002977.3 deleterious(0.02) possibly_damaging(0.566) 14/27 hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF221 MODERATE SNV 5 1 PASS CAA . . 166280563 SCN7A . GRCh38 chr2 166406557 166406557 + Missense_Mutation SNP G G A rs556453626 7316-451 BS_1NWVFBTQ G G c.4072C>T p.Arg1358Cys p.R1358C ENST00000643258 26/26 77 43 30 31 31 0 SCN7A,missense_variant,p.Arg1358Cys,ENST00000643258,;SCN7A,missense_variant,p.Arg1358Cys,ENST00000409855,NM_002976.3;SCN7A,missense_variant,p.Arg1358Cys,ENST00000619410,;SCN7A,missense_variant,p.Arg1358Cys,ENST00000621965,;SCN7A,missense_variant,p.Arg1358Cys,ENST00000441411,;SCN7A,3_prime_UTR_variant,,ENST00000424326,; A ENSG00000136546 ENST00000643258 Transcript missense_variant 4481/7465 4072/5049 1358/1682 R/C Cgt/Tgt rs556453626,COSM4634633,COSM4634632 1 -1 SCN7A HGNC HGNC:10594 protein_coding YES CCDS46442.1 ENSP00000496114 UPI0000209019 deleterious(0) probably_damaging(0.912) 26/26 Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324 0.0004 0.002 0,1,1 MODERATE 1 SNV 0,1,1 PASS CGC . . 0.0002651 0.002113 166406557 AC019185.2 . GRCh38 chr2 208540110 208540111 + Splice_Region INS - - A rs550770970 7316-451 BS_1NWVFBTQ - - n.225dup ENST00000424628 3/3 68 32 33 31 30 0 AC019185.2,splice_region_variant,,ENST00000424628,;PTH2R,intron_variant,,ENST00000419079,; A ENSG00000231896 ENST00000424628 Transcript splice_region_variant,non_coding_transcript_exon_variant 217-218/520 rs550770970 1 1 AC019185.2 Clone_based_ensembl_gene sense_intronic YES 3/3 0.0028 0.0098 0.001 LOW 1 insertion 4 8 PASS GTA . . 208540110 SEC61A1 . GRCh38 chr3 128064983 128064983 + Missense_Mutation SNP C C A novel 7316-451 BS_1NWVFBTQ C C c.723C>A p.Asn241Lys p.N241K ENST00000243253 8/12 68 35 33 26 26 0 SEC61A1,missense_variant,p.Asn241Lys,ENST00000243253,NM_013336.3;SEC61A1,missense_variant,p.Asn121Lys,ENST00000424880,;SEC61A1,missense_variant,p.Asn247Lys,ENST00000464451,;RUVBL1,3_prime_UTR_variant,,ENST00000464873,NM_001319086.1;RUVBL1,3_prime_UTR_variant,,ENST00000472125,;SEC61A1,downstream_gene_variant,,ENST00000481210,;SEC61A1,intron_variant,,ENST00000483956,;SEC61A1,upstream_gene_variant,,ENST00000498837,;RUVBL1,3_prime_UTR_variant,,ENST00000585057,; A ENSG00000058262 ENST00000243253 Transcript missense_variant 907/3635 723/1431 241/476 N/K aaC/aaA 1 1 SEC61A1 HGNC HGNC:18276 protein_coding YES CCDS3046.1 ENSP00000243253 P61619 B3KNF6 UPI00000041A9 NM_013336.3 deleterious(0) probably_damaging(1) 8/12 Transmembrane_helices:TMhelix,hmmpanther:PTHR10906,hmmpanther:PTHR10906:SF10,Pfam_domain:PF00344,TIGRFAM_domain:TIGR00967,Gene3D:1.10.3370.10,PIRSF_domain:PIRSF004557,Superfamily_domains:SSF103491 MODERATE 1 SNV 1 1 PASS ACC . . 128064983 YTHDC1 . GRCh38 chr4 68337274 68337274 + Missense_Mutation SNP A A T novel 7316-451 BS_1NWVFBTQ A A c.636T>A p.Asp212Glu p.D212E ENST00000579690 4/17 66 53 5 37 36 0 YTHDC1,missense_variant,p.Asp212Glu,ENST00000344157,NM_001031732.2;YTHDC1,missense_variant,p.Asp212Glu,ENST00000355665,NM_133370.2;YTHDC1,missense_variant,p.Asp212Glu,ENST00000579690,;YTHDC1,downstream_gene_variant,,ENST00000505251,;YTHDC1,downstream_gene_variant,,ENST00000510746,; T ENSG00000083896 ENST00000579690 Transcript missense_variant 636/2983 636/2208 212/735 D/E gaT/gaA 1 -1 YTHDC1 HGNC HGNC:30626 protein_coding YES CCDS82929.1 ENSP00000463982 J3QR07 UPI000268B48E tolerated_low_confidence(1) benign(0) 4/17 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAT . . 68337274 PF4V1 . GRCh38 chr4 73853907 73853907 + Splice_Region SNP C C G rs34446485 7316-451 BS_1NWVFBTQ C C c.225C>G p.Leu75= p.L75= ENST00000226524 2/3 44 38 6 22 22 0 PF4V1,splice_region_variant,p.Leu75=,ENST00000226524,NM_002620.3;CXCL6,downstream_gene_variant,,ENST00000503446,;,regulatory_region_variant,,ENSR00000169245,; G ENSG00000109272 ENST00000226524 Transcript splice_region_variant,synonymous_variant 399/522 225/315 75/104 L ctC/ctG rs34446485,COSM1633775 1 1 PF4V1 HGNC HGNC:8862 protein_coding YES CCDS3561.1 ENSP00000226524 P10720 UPI000013171A NM_002620.3 2/3 Gene3D:2.40.50.40,PDB-ENSP_mappings:4hsv.A,PDB-ENSP_mappings:4hsv.B,PDB-ENSP_mappings:4hsv.C,PDB-ENSP_mappings:4hsv.D,Pfam_domain:PF00048,Prints_domain:PR00436,Prints_domain:PR00437,PROSITE_patterns:PS00471,hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF38,SMART_domains:SM00199,Superfamily_domains:SSF54117,cd00273 0.01846 0.003606 0,1 LOW 1 SNV 1 0,1 PASS TCA . . 0.001917 0.005695 0.001577 0.003592 0.0001758 0.0008058 0.001683 0.00174 0.002737 73853907 PRDM5 . GRCh38 chr4 120781223 120781223 + Missense_Mutation SNP G G A 7316-451 BS_1NWVFBTQ G G c.1363C>T p.His455Tyr p.H455Y ENST00000264808 12/16 88 48 38 25 25 0 PRDM5,missense_variant,p.His455Tyr,ENST00000264808,NM_018699.3;PRDM5,missense_variant,p.His424Tyr,ENST00000428209,NM_001300823.1;PRDM5,missense_variant,p.His424Tyr,ENST00000515109,NM_001300824.1;PRDM5,non_coding_transcript_exon_variant,,ENST00000505484,;PRDM5,downstream_gene_variant,,ENST00000502409,;PRDM5,downstream_gene_variant,,ENST00000503661,; A ENSG00000138738 ENST00000264808 Transcript missense_variant 1604/5330 1363/1893 455/630 H/Y Cat/Tat COSM4465023 1 -1 PRDM5 HGNC HGNC:9349 protein_coding YES CCDS3716.1 ENSP00000264808 Q9NQX1 UPI000013D572 NM_018699.3 deleterious(0.01) probably_damaging(0.992) 12/16 PROSITE_profiles:PS50157,hmmpanther:PTHR44808,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.28.30,PIRSF_domain:PIRSF037162,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 1 PASS TGA . . 120781223 ARHGEF28 . GRCh38 chr5 73840506 73840521 + Frame_Shift_Del DEL TAATATAGAGGGAATC TAATATAGAGGGAATC - novel 7316-451 BS_1NWVFBTQ TAATATAGAGGGAATC TAATATAGAGGGAATC c.1173_1188del p.Asn392LeufsTer60 p.N392Lfs*60 ENST00000545377 11/37 66 29 33 33 33 0 ARHGEF28,frameshift_variant,p.Asn392LeufsTer60,ENST00000545377,NM_001080479.2;ARHGEF28,frameshift_variant,p.Asn392LeufsTer60,ENST00000513042,NM_001177693.1;ARHGEF28,frameshift_variant,p.Asn392LeufsTer60,ENST00000426542,;ARHGEF28,frameshift_variant,p.Asn392LeufsTer60,ENST00000437974,;ARHGEF28,frameshift_variant,p.Asn392LeufsTer60,ENST00000296794,;ARHGEF28,frameshift_variant,p.Asn79LeufsTer60,ENST00000296799,NM_001244364.1;ARHGEF28,non_coding_transcript_exon_variant,,ENST00000513841,; - ENSG00000214944 ENST00000545377 Transcript frameshift_variant 1349-1364/6351 1173-1188/5196 391-396/1731 INIEGI/X atTAATATAGAGGGAATC/at 1 1 ARHGEF28 HGNC HGNC:30322 protein_coding YES CCDS47231.2 ENSP00000441913 Q8N1W1 UPI00004DF58E NM_001080479.2 11/37 hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133 HIGH 1 deletion 5 PASS ATTAATATAGAGGGAATCA . . 73840505 TTC37 . GRCh38 chr5 95525618 95525618 + Missense_Mutation SNP C C T rs1051811999 7316-451 BS_1NWVFBTQ C C c.1190G>A p.Arg397Gln p.R397Q ENST00000358746 14/43 76 38 36 38 38 0 TTC37,missense_variant,p.Arg397Gln,ENST00000358746,NM_014639.3;TTC37,missense_variant,p.Arg349Gln,ENST00000514952,;RNU6-308P,downstream_gene_variant,,ENST00000390957,;TTC37,downstream_gene_variant,,ENST00000504421,;TTC37,missense_variant,p.Arg15Gln,ENST00000513232,;TTC37,intron_variant,,ENST00000505578,;TTC37,downstream_gene_variant,,ENST00000503279,;TTC37,upstream_gene_variant,,ENST00000507805,; T ENSG00000198677 ENST00000358746 Transcript missense_variant 1489/5706 1190/4695 397/1564 R/Q cGg/cAg rs1051811999,COSM4737180 1 -1 TTC37 HGNC HGNC:23639 protein_coding YES CCDS4072.1 ENSP00000351596 Q6PGP7 UPI00000709BD NM_014639.3 tolerated(0.07) benign(0.133) 14/43 Gene3D:1.25.40.10,Pfam_domain:PF13432,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR15704,Superfamily_domains:SSF48452,Superfamily_domains:SSF81901 0,1 MODERATE 1 SNV 1 0,1 1 PASS CCG . . 95525618 APC . GRCh38 chr5 112843266 112843266 + Missense_Mutation SNP C C T novel 7316-451 BS_1NWVFBTQ C C c.7672C>T p.Leu2558Phe p.L2558F ENST00000257430 16/16 81 45 35 20 20 0 APC,missense_variant,p.Leu2558Phe,ENST00000257430,NM_000038.5,NM_001354897.1,NM_001354898.1,NM_001354895.1,NM_001354901.1,NM_001354899.1;APC,missense_variant,p.Leu2558Phe,ENST00000508376,NM_001127510.2;APC,downstream_gene_variant,,ENST00000507379,NM_001127511.2;APC,downstream_gene_variant,,ENST00000512211,;AC008575.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000502371,;APC,downstream_gene_variant,,ENST00000508624,; T ENSG00000134982 ENST00000257430 Transcript missense_variant 7728/10701 7672/8532 2558/2843 L/F Ctt/Ttt 1 1 APC HGNC HGNC:583 protein_coding YES CCDS4107.1 ENSP00000257430 P25054 UPI000013CF60 NM_000038.5,NM_001354897.1,NM_001354898.1,NM_001354895.1,NM_001354901.1,NM_001354899.1 tolerated(0.08) probably_damaging(0.998) 16/16 mobidb-lite,hmmpanther:PTHR12607:SF11,hmmpanther:PTHR12607,Pfam_domain:PF05956 MODERATE SNV 5 1 PASS CCT . . 112843266 FOXF2 . GRCh38 chr6 1390743 1390745 + In_Frame_Del DEL CAC CAC - rs762436025 7316-451 BS_1NWVFBTQ CAC CAC c.814_816del p.His272del p.H272del ENST00000645481 1/2 76 62 5 41 34 0 FOXF2,inframe_deletion,p.His272del,ENST00000645481,;FOXF2,inframe_deletion,p.His272del,ENST00000259806,NM_001452.1;MIR6720,upstream_gene_variant,,ENST00000611664,; - ENSG00000137273 ENST00000645481 Transcript inframe_deletion 1168-1170/2447 796-798/1335 266/444 H/- CAC/- rs762436025,COSM5061444 1 1 FOXF2 HGNC HGNC:3810 protein_coding YES CCDS4472.1 ENSP00000496415 UPI000012ADD6 1/2 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF125,mobidb-lite,Low_complexity_(Seg):seg 0.009358 0.0163 0,1 MODERATE 1 deletion 18 0,1 PASS CTCACC . . 0.004375 0.004504 0.003615 0.004021 0.007282 0.003693 0.004608 0.003804 1390742 HIST1H2AJ . GRCh38 chr6 27814611 27814611 + Missense_Mutation SNP C C A novel 7316-451 BS_1NWVFBTQ C C c.130G>T p.Val44Phe p.V44F ENST00000333151 1/1 57 46 10 36 34 0 HIST1H2AJ,missense_variant,p.Val44Phe,ENST00000333151,NM_021066.2;HIST1H3H,downstream_gene_variant,,ENST00000369163,NM_003536.2;HIST1H2BM,upstream_gene_variant,,ENST00000621112,NM_003521.2;,regulatory_region_variant,,ENSR00000195175,; A ENSG00000276368 ENST00000333151 Transcript missense_variant 130/387 130/387 44/128 V/F Gtc/Ttc 1 -1 HIST1H2AJ HGNC HGNC:4727 protein_coding YES CCDS4628.1 ENSP00000328484 Q99878 UPI0000000E16 NM_021066.2 deleterious_low_confidence(0.01) benign(0.389) 1/1 Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00620,hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF128,SMART_domains:SM00414,Superfamily_domains:SSF47113,cd00074 MODERATE 1 SNV PASS ACC . . 27814611 PHF1 . GRCh38 chr6 33413194 33413194 + Splice_Site SNP A A G novel 7316-451 BS_1NWVFBTQ A A c.338-2A>G p.X113_splice ENST00000374516 70 58 10 32 30 0 PHF1,splice_acceptor_variant,,ENST00000374512,NM_002636.4;PHF1,splice_acceptor_variant,,ENST00000374516,NM_024165.2;PHF1,splice_acceptor_variant,,ENST00000427004,;PHF1,splice_acceptor_variant,,ENST00000428274,;CUTA,downstream_gene_variant,,ENST00000374496,;CUTA,downstream_gene_variant,,ENST00000374500,NM_001014433.2;KIFC1,downstream_gene_variant,,ENST00000428849,NM_002263.3;CUTA,downstream_gene_variant,,ENST00000440279,;CUTA,downstream_gene_variant,,ENST00000488034,NM_001014840.1;CUTA,downstream_gene_variant,,ENST00000488478,;CUTA,downstream_gene_variant,,ENST00000494751,;CUTA,downstream_gene_variant,,ENST00000607266,;CUTA,downstream_gene_variant,,ENST00000611509,NM_015921.2,NM_001014838.1,NM_001014837.1;CUTA,downstream_gene_variant,,ENST00000492510,;PHF1,splice_acceptor_variant,,ENST00000487667,;PHF1,splice_acceptor_variant,,ENST00000495509,;PHF1,non_coding_transcript_exon_variant,,ENST00000488767,;CUTA,downstream_gene_variant,,ENST00000374484,;PHF1,upstream_gene_variant,,ENST00000427826,;PHF1,downstream_gene_variant,,ENST00000459809,;CUTA,downstream_gene_variant,,ENST00000462802,;CUTA,downstream_gene_variant,,ENST00000465956,;PHF1,upstream_gene_variant,,ENST00000479029,;CUTA,downstream_gene_variant,,ENST00000479249,;CUTA,downstream_gene_variant,,ENST00000482684,;PHF1,upstream_gene_variant,,ENST00000486845,;CUTA,downstream_gene_variant,,ENST00000487637,; G ENSG00000112511 ENST00000374516 Transcript splice_acceptor_variant 1 1 PHF1 HGNC HGNC:8919 protein_coding YES CCDS4777.1 ENSP00000363640 O43189 UPI0000457421 NM_024165.2 4/14 HIGH 1 SNV 1 PASS CAG . . 33413194 MCM3 . GRCh38 chr6 52266136 52266136 + Missense_Mutation SNP G G C rs766774428 7316-451 BS_1NWVFBTQ G G c.2302C>G p.Pro768Ala p.P768A ENST00000616552 16/17 76 37 37 31 31 0 MCM3,missense_variant,p.Pro768Ala,ENST00000616552,NM_002388.4;MCM3,missense_variant,p.Pro768Ala,ENST00000596288,;MCM3,missense_variant,p.Pro723Ala,ENST00000229854,;MCM3,missense_variant,p.Pro733Ala,ENST00000419835,NM_001270472.1;MCM3,missense_variant,p.Pro218Ala,ENST00000421471,; C ENSG00000112118 ENST00000616552 Transcript missense_variant 2374/3208 2302/2562 768/853 P/A Cca/Gca rs766774428 1 -1 MCM3 HGNC HGNC:6945 protein_coding YES CCDS4940.2 ENSP00000480987 P25205 UPI0000EE4F08 NM_002388.4 tolerated(0.19) benign(0.001) 16/17 hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF72,mobidb-lite MODERATE 1 SNV 1 PASS GGA . . 4.061e-06 5.798e-05 52266136 ATG5 . GRCh38 chr6 106316165 106316165 + Missense_Mutation SNP C C T rs373794853 7316-451 BS_1NWVFBTQ C C c.44G>A p.Arg15Gln p.R15Q ENST00000369076 2/8 86 46 37 37 36 0 ATG5,missense_variant,p.Arg15Gln,ENST00000369076,NM_004849.3,NM_001286108.1;ATG5,missense_variant,p.Arg15Gln,ENST00000343245,NM_001286106.1;ATG5,missense_variant,p.Arg15Gln,ENST00000360666,NM_001286111.1;ATG5,missense_variant,p.Arg15Gln,ENST00000613993,;ATG5,5_prime_UTR_variant,,ENST00000635758,NM_001286107.1;ATG5,5_prime_UTR_variant,,ENST00000636437,;ATG5,missense_variant,p.Arg15Gln,ENST00000369070,;ATG5,missense_variant,p.Arg15Gln,ENST00000646025,;ATG5,5_prime_UTR_variant,,ENST00000636335,;,regulatory_region_variant,,ENSR00000200611,; T ENSG00000057663 ENST00000369076 Transcript missense_variant 368/3216 44/828 15/275 R/Q cGa/cAa rs373794853 1 -1 ATG5 HGNC HGNC:589 protein_coding YES CCDS5055.1 ENSP00000358072 Q9H1Y0 A9UGY9 UPI0000125C62 NM_004849.3,NM_001286108.1 tolerated(0.11) benign(0.079) 2/8 hmmpanther:PTHR13040 0.0001163 MODERATE 1 SNV 1 1 PASS TCG . . 1.22e-05 6.54e-05 1.793e-05 106316165 ARHGAP18 . GRCh38 chr6 129641999 129641999 + Missense_Mutation SNP T T C novel 7316-451 BS_1NWVFBTQ T T c.133A>G p.Thr45Ala p.T45A ENST00000368149 2/15 75 32 42 39 39 0 ARHGAP18,missense_variant,p.Thr45Ala,ENST00000368149,NM_033515.2; C ENSG00000146376 ENST00000368149 Transcript missense_variant 222/4462 133/1992 45/663 T/A Act/Gct 1 -1 ARHGAP18 HGNC HGNC:21035 protein_coding YES CCDS34535.1 ENSP00000357131 Q8N392 UPI000020E208 NM_033515.2 tolerated(0.4) benign(0.034) 2/15 hmmpanther:PTHR14963:SF6,hmmpanther:PTHR14963 MODERATE 1 SNV 1 PASS GTG . . 129641999 AC004160.1 . GRCh38 chr7 11188635 11188635 + Splice_Site SNP G G C novel 7316-451 BS_1NWVFBTQ G G n.201+1G>C ENST00000599917 89 52 30 37 36 0 AC004160.1,splice_donor_variant,,ENST00000599917,;AC004160.1,splice_donor_variant,,ENST00000625468,;AC004160.1,upstream_gene_variant,,ENST00000428967,;AC004160.1,upstream_gene_variant,,ENST00000611449,;AC004160.1,upstream_gene_variant,,ENST00000627878,;AC004160.1,upstream_gene_variant,,ENST00000443459,; C ENSG00000230333 ENST00000599917 Transcript splice_donor_variant,non_coding_transcript_variant 1 1 AC004160.1 Clone_based_ensembl_gene antisense 2/5 HIGH SNV 5 PASS GGT . . 11188635 CCDC129 . GRCh38 chr7 31643374 31643374 + Missense_Mutation SNP T T G novel 7316-451 BS_1NWVFBTQ T T c.2082T>G p.His694Gln p.H694Q ENST00000451887 11/15 69 56 10 35 34 0 CCDC129,missense_variant,p.His520Gln,ENST00000319386,;CCDC129,missense_variant,p.His678Gln,ENST00000615280,NM_001257967.1;CCDC129,missense_variant,p.His576Gln,ENST00000409210,;CCDC129,missense_variant,p.His694Gln,ENST00000451887,NM_001257968.1;CCDC129,missense_variant,p.His668Gln,ENST00000407970,NM_194300.3; G ENSG00000180347 ENST00000451887 Transcript missense_variant 2176/3611 2082/3189 694/1062 H/Q caT/caG 1 1 CCDC129 HGNC HGNC:27363 protein_coding YES CCDS59050.1 ENSP00000395835 Q6ZRS4 UPI00020655D9 NM_001257968.1 tolerated(0.14) benign(0.037) 11/15 Gene3D:1.20.1000.10,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF14 MODERATE 1 SNV 2 PASS ATA . . 31643374 HERPUD2 . GRCh38 chr7 35635238 35635238 + Missense_Mutation SNP T T C novel 7316-451 BS_1NWVFBTQ T T c.838A>G p.Met280Val p.M280V ENST00000396081 6/8 81 64 13 27 27 0 HERPUD2,missense_variant,p.Met280Val,ENST00000396081,NM_022373.4;HERPUD2,missense_variant,p.Met280Val,ENST00000311350,;HERPUD2,downstream_gene_variant,,ENST00000413517,;HERPUD2,downstream_gene_variant,,ENST00000438224,;HERPUD2,non_coding_transcript_exon_variant,,ENST00000426180,; C ENSG00000122557 ENST00000396081 Transcript missense_variant 1643/3057 838/1221 280/406 M/V Atg/Gtg 1 -1 HERPUD2 HGNC HGNC:21915 protein_coding YES CCDS5446.1 ENSP00000379390 Q9BSE4 A0A024RA77 UPI000013F159 NM_022373.4 tolerated(0.92) benign(0) 6/8 hmmpanther:PTHR12943,hmmpanther:PTHR12943:SF5 MODERATE 1 SNV 1 PASS ATC . . 35635238 LINC01450 . GRCh38 chr7 40968113 40968113 + Splice_Site SNP A A G novel 7316-451 BS_1NWVFBTQ A A n.636+2T>C ENST00000443406 89 68 19 43 42 0 LINC01450,splice_donor_variant,,ENST00000443406,; G ENSG00000232458 ENST00000443406 Transcript splice_donor_variant,non_coding_transcript_variant 1 -1 LINC01450 HGNC HGNC:50792 lincRNA YES 2/2 HIGH 1 SNV 1 PASS GAC . . 40968113 MUC3A . GRCh38 chr7 100960448 100960448 + Missense_Mutation SNP C C T rs144580177 7316-451 BS_1NWVFBTQ C C c.8669C>T p.Pro2890Leu p.P2890L ENST00000379458 2/12 195 119 68 68 57 10 MUC3A,missense_variant,p.Pro2890Leu,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Pro2890Leu,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.Pro829Leu,ENST00000414964,; T ENSG00000169894 ENST00000379458 Transcript missense_variant 8739/11226 8669/9972 2890/3323 P/L cCg/cTg rs144580177 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 deleterious_low_confidence(0) benign(0.402) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22 0.0005708 0.001256 MODERATE SNV 5 PASS CCG . . 0.005249 0.0005095 0.00332 0.008751 5.901e-05 0.007272 0.005888 0.006135 0.008578 100960448 KCP . GRCh38 chr7 128886914 128886914 + Missense_Mutation SNP T T G rs1201472562 7316-451 BS_1NWVFBTQ T T c.2651A>C p.His884Pro p.H884P ENST00000610776 24/40 104 71 15 50 47 2 KCP,missense_variant,p.His884Pro,ENST00000610776,;KCP,missense_variant,p.His888Pro,ENST00000613019,;KCP,missense_variant,p.His824Pro,ENST00000620378,NM_001135914.1;KCP,downstream_gene_variant,,ENST00000612224,NM_199349.2;KCP,missense_variant,p.His888Pro,ENST00000611280,;KCP,downstream_gene_variant,,ENST00000616669,; G ENSG00000135253 ENST00000610776 Transcript missense_variant 2694/5108 2651/4887 884/1628 H/P cAc/cCc rs1201472562 1 -1 KCP HGNC HGNC:17585 protein_coding YES ENSP00000479679 A0A087WVT8 UPI0004620CE8 tolerated(0.05) possibly_damaging(0.533) 24/40 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF280,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 7.22e-05 0.000117 0.0001471 0.0002336 0.0001477 4.061e-05 128886914 SSPO . GRCh38 chr7 149789778 149789778 + Missense_Mutation SNP G G T novel 7316-451 BS_1NWVFBTQ G G c.4643G>T p.Gly1548Val p.G1548V ENST00000378016 30/107 101 69 30 22 22 0 SSPO,missense_variant,p.Gly1548Val,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,; T ENSG00000197558 ENST00000378016 Transcript missense_variant 4643/15589 4643/15453 1548/5150 G/V gGc/gTc 1 1 SSPO HGNC HGNC:21998 protein_coding YES ENSP00000485256 A2VEC9 UPI000514C5D0 NM_198455.2 tolerated(0.2) benign(0.023) 30/107 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:4.10.1220.10,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF358 MODERATE 1 SNV 5 PASS GGC . . 149789778 MTMR9 . GRCh38 chr8 11322708 11322708 + Nonsense_Mutation SNP G G T 7316-451 BS_1NWVFBTQ G G c.1570G>T p.Glu524Ter p.E524* ENST00000221086 10/10 93 42 49 29 28 0 MTMR9,stop_gained,p.Glu524Ter,ENST00000221086,NM_015458.3;MTMR9,stop_gained,p.Glu439Ter,ENST00000526292,;AF131216.1,intron_variant,,ENST00000498997,;MTMR9,3_prime_UTR_variant,,ENST00000530200,; T ENSG00000104643 ENST00000221086 Transcript stop_gained 2043/7481 1570/1650 524/549 E/* Gaa/Taa COSM6495859 1 1 MTMR9 HGNC HGNC:14596 protein_coding YES CCDS5979.1 ENSP00000221086 Q96QG7 UPI0000073CA7 NM_015458.3 10/10 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10807:SF56,hmmpanther:PTHR10807 1 HIGH 1 SNV 1 1 PASS AGA . . 11322708 SLC35G5 . GRCh38 chr8 11332082 11332082 + Missense_Mutation SNP C C T rs62488717 7316-451 BS_1NWVFBTQ C C c.976C>T p.Arg326Trp p.R326W ENST00000382435 1/1 77 63 9 35 34 0 SLC35G5,missense_variant,p.Arg326Trp,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; T ENSG00000177710 ENST00000382435 Transcript missense_variant 1195/1321 976/1017 326/338 R/W Cgg/Tgg rs62488717,COSM3718698 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.17) benign(0) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 MODERATE SNV 0,1 PASS CCG . . 0.2934 0.1711 0.2975 0.3221 0.2793 0.3895 0.2956 0.2607 0.2856 11332082 PRDM14 . GRCh38 chr8 70068253 70068253 + Missense_Mutation SNP C C T rs267601982 7316-451 BS_1NWVFBTQ C C c.889G>A p.Gly297Arg p.G297R ENST00000276594 4/8 118 78 39 28 26 0 PRDM14,missense_variant,p.Gly297Arg,ENST00000276594,NM_024504.3;PRDM14,downstream_gene_variant,,ENST00000426346,; T ENSG00000147596 ENST00000276594 Transcript missense_variant 1091/2344 889/1716 297/571 G/R Gga/Aga rs267601982,COSM3901325 1 -1 PRDM14 HGNC HGNC:14001 protein_coding YES CCDS6206.1 ENSP00000276594 Q9GZV8 UPI0000132186 NM_024504.3 tolerated(0.3) benign(0.049) 4/8 PROSITE_profiles:PS50280,hmmpanther:PTHR45009,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 2.03e-05 0.0002899 70068253 ANXA13 . GRCh38 chr8 123735763 123735763 + Missense_Mutation SNP G G A rs1448229225 7316-451 BS_1NWVFBTQ G G c.130C>T p.Pro44Ser p.P44S ENST00000262219 2/12 94 65 23 29 29 0 ANXA13,missense_variant,p.Pro44Ser,ENST00000262219,NM_001003954.2;ANXA13,intron_variant,,ENST00000419625,NM_004306.3; A ENSG00000104537 ENST00000262219 Transcript missense_variant 198/1588 130/1074 44/357 P/S Cca/Tca rs1448229225 1 -1 ANXA13 HGNC HGNC:536 protein_coding YES CCDS34939.1 ENSP00000262219 P27216 UPI000016A41E NM_001003954.2 tolerated(0.37) benign(0) 2/12 mobidb-lite,Superfamily_domains:SSF47874,Prints_domain:PR01811 MODERATE 1 SNV 1 PASS GGG . . 4.1e-06 0.0001019 123735763 ODF2 . GRCh38 chr9 128469208 128469208 + Missense_Mutation SNP C C T rs370813692 7316-451 BS_1NWVFBTQ C C c.275C>T p.Thr92Met p.T92M ENST00000434106 5/21 59 49 9 39 39 0 ODF2,missense_variant,p.Thr87Met,ENST00000351030,NM_001242352.1,NM_001351578.1,NM_001351584.1;ODF2,missense_variant,p.Thr92Met,ENST00000434106,NM_153433.1,NM_001351581.1;ODF2,missense_variant,p.Thr68Met,ENST00000393527,NM_153435.1,NM_002540.4;ODF2,missense_variant,p.Thr92Met,ENST00000604420,NM_001242353.1;ODF2,missense_variant,p.Thr87Met,ENST00000372807,;ODF2,missense_variant,p.Thr68Met,ENST00000444119,;ODF2,missense_variant,p.Thr73Met,ENST00000372791,NM_153437.2;ODF2,missense_variant,p.Thr136Met,ENST00000372814,NM_153439.1,NM_153432.1;ODF2,missense_variant,p.Thr73Met,ENST00000546203,NM_153440.1;ODF2,missense_variant,p.Thr92Met,ENST00000393533,NM_153436.1;ODF2,missense_variant,p.Thr73Met,ENST00000446274,;ODF2,missense_variant,p.Thr92Met,ENST00000470061,;ODF2,missense_variant,p.Thr83Met,ENST00000497812,;ODF2,intron_variant,,ENST00000421776,;ODF2,intron_variant,,ENST00000432065,;ODF2,intron_variant,,ENST00000448249,NM_001242354.1;ODF2-AS1,non_coding_transcript_exon_variant,,ENST00000420801,;ODF2,non_coding_transcript_exon_variant,,ENST00000469582,; T ENSG00000136811 ENST00000434106 Transcript missense_variant 638/3890 275/2490 92/829 T/M aCg/aTg rs370813692 1 1 ODF2 HGNC HGNC:8114 protein_coding YES CCDS56588.1 ENSP00000403453 Q5BJF6 UPI0000211922 NM_153433.1,NM_001351581.1 deleterious(0.01) possibly_damaging(0.832) 5/21 hmmpanther:PTHR23162:SF8,hmmpanther:PTHR23162 0.0002 0.001 0.0001163 MODERATE 1 SNV 1 PASS ACG . . 0.0002398 5.957e-05 0.0001016 0.000116 0.0001345 0.0004306 9.746e-05 128469208 DYDC2 . GRCh38 chr10 80363043 80363043 + Missense_Mutation SNP G G C novel 7316-451 BS_1NWVFBTQ G G c.282G>C p.Gln94His p.Q94H ENST00000372198 3/4 61 29 29 34 34 0 DYDC2,missense_variant,p.Gln80His,ENST00000372199,;DYDC2,missense_variant,p.Gln80His,ENST00000372197,;DYDC2,missense_variant,p.Gln80His,ENST00000256039,NM_032372.5;DYDC2,missense_variant,p.Gln94His,ENST00000372198,NM_001270042.1;DYDC2,missense_variant,p.Gln80His,ENST00000616870,NM_001270041.1;DYDC2,missense_variant,p.Gln80His,ENST00000444807,;DYDC2,missense_variant,p.Gln80His,ENST00000411538,; C ENSG00000133665 ENST00000372198 Transcript missense_variant 320/1736 282/576 94/191 Q/H caG/caC 1 1 DYDC2 HGNC HGNC:23468 protein_coding YES CCDS58088.1 ENSP00000361272 A0A0A0MRQ7 UPI000046FF92 NM_001270042.1 tolerated(0.05) benign(0.132) 3/4 hmmpanther:PTHR23356,hmmpanther:PTHR23356:SF3 MODERATE 1 SNV 2 PASS AGA . . 80363043 BTAF1 . GRCh38 chr10 91959081 91959081 + Missense_Mutation SNP G G C novel 7316-451 BS_1NWVFBTQ G G c.917G>C p.Gly306Ala p.G306A ENST00000265990 9/38 97 50 44 51 50 0 BTAF1,missense_variant,p.Gly306Ala,ENST00000265990,NM_003972.2;BTAF1,missense_variant,p.Gly306Ala,ENST00000544642,;BTAF1,non_coding_transcript_exon_variant,,ENST00000471217,; C ENSG00000095564 ENST00000265990 Transcript missense_variant 1225/7250 917/5550 306/1849 G/A gGc/gCc 1 1 BTAF1 HGNC HGNC:17307 protein_coding YES CCDS7419.1 ENSP00000265990 O14981 Q2M1V9 UPI0000136782 NM_003972.2 tolerated(1) benign(0.014) 9/38 Gene3D:1.25.10.10,hmmpanther:PTHR36498,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS GGC . . 91959081 SH3PXD2A . GRCh38 chr10 103668631 103668631 + Missense_Mutation SNP T T G novel 7316-451 BS_1NWVFBTQ T T c.449A>C p.Glu150Ala p.E150A ENST00000355946 7/14 63 27 31 41 40 0 SH3PXD2A,missense_variant,p.Glu150Ala,ENST00000369774,;SH3PXD2A,missense_variant,p.Glu150Ala,ENST00000355946,NM_014631.2;SH3PXD2A,missense_variant,p.Glu105Ala,ENST00000420222,;RF00019,upstream_gene_variant,,ENST00000410571,;SH3PXD2A,non_coding_transcript_exon_variant,,ENST00000315994,;,regulatory_region_variant,,ENSR00000032930,; G ENSG00000107957 ENST00000355946 Transcript missense_variant 589/11245 449/3318 150/1105 E/A gAg/gCg 1 -1 SH3PXD2A HGNC HGNC:23664 protein_coding YES CCDS31278.1 ENSP00000348215 Q5TCZ1 UPI000041B175 NM_014631.2 tolerated(0.16) benign(0.031) 7/14 hmmpanther:PTHR15706:SF7,hmmpanther:PTHR15706 MODERATE 1 SNV 1 1 PASS CTC . . 103668631 PNLIPRP1 . GRCh38 chr10 116594848 116594848 + Frame_Shift_Del DEL T T - novel 7316-451 BS_1NWVFBTQ T T c.449del p.Met150SerfsTer6 p.M150Sfs*6 ENST00000528052 5/13 77 35 39 35 35 0 PNLIPRP1,frameshift_variant,p.Met150SerfsTer6,ENST00000528052,NM_001303135.1;PNLIPRP1,frameshift_variant,p.Met150SerfsTer6,ENST00000358834,NM_006229.3;PNLIPRP1,frameshift_variant,p.Met150SerfsTer7,ENST00000534537,;PNLIPRP1,frameshift_variant,p.Met150SerfsTer6,ENST00000531984,;PNLIPRP1,intron_variant,,ENST00000527980,;PNLIPRP1,intron_variant,,ENST00000530319,;PNLIPRP1,downstream_gene_variant,,ENST00000471549,;PNLIPRP1,downstream_gene_variant,,ENST00000480870,;PNLIPRP1,downstream_gene_variant,,ENST00000510125,;PNLIPRP1,downstream_gene_variant,,ENST00000525157,;PNLIPRP1,frameshift_variant,p.Met40SerfsTer6,ENST00000482833,;PNLIPRP1,3_prime_UTR_variant,,ENST00000497792,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000484402,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000529584,;PNLIPRP1,downstream_gene_variant,,ENST00000470678,;PNLIPRP1,downstream_gene_variant,,ENST00000482159,;PNLIPRP1,downstream_gene_variant,,ENST00000530626,;PNLIPRP1,upstream_gene_variant,,ENST00000534513,; - ENSG00000187021 ENST00000528052 Transcript frameshift_variant 520/1533 449/1404 150/467 M/X aTg/ag 1 1 PNLIPRP1 HGNC HGNC:9156 protein_coding YES CCDS7595.1 ENSP00000433933 P54315 UPI000012E6AA NM_001303135.1 5/13 Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Prints_domain:PR00821,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF108,Superfamily_domains:SSF53474,cd00707 HIGH 1 deletion 2 PASS GATG . . 116594847 OR5P2 . GRCh38 chr11 7796575 7796575 + Missense_Mutation SNP C C A novel 7316-451 BS_1NWVFBTQ C C c.368G>T p.Cys123Phe p.C123F ENST00000329434 1/1 66 35 31 41 41 0 OR5P2,missense_variant,p.Cys123Phe,ENST00000329434,NM_153444.1;AC044810.3,intron_variant,,ENST00000527565,;AC044810.2,intron_variant,,ENST00000529488,; A ENSG00000183303 ENST00000329434 Transcript missense_variant 399/1069 368/969 123/322 C/F tGc/tTc 1 -1 OR5P2 HGNC HGNC:14783 protein_coding YES CCDS7782.1 ENSP00000331823 Q8WZ92 A0A126GVJ7 UPI00000015AC NM_153444.1 deleterious(0) possibly_damaging(0.704) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF90,Superfamily_domains:SSF81321,cd15416 MODERATE SNV PASS GCA . . 7796575 C11orf95 . GRCh38 chr11 63766059 63766059 + Missense_Mutation SNP A A G novel 7316-451 BS_1NWVFBTQ A A c.385T>C p.Cys129Arg p.C129R ENST00000433688 2/5 80 57 21 38 38 0 C11orf95,missense_variant,p.Cys129Arg,ENST00000433688,NM_001144936.1;C11orf95,upstream_gene_variant,,ENST00000338498,;C11orf95,upstream_gene_variant,,ENST00000445014,;C11orf95,downstream_gene_variant,,ENST00000546282,; G ENSG00000188070 ENST00000433688 Transcript missense_variant 538/5716 385/2037 129/678 C/R Tgc/Cgc 1 -1 C11orf95 HGNC HGNC:28449 protein_coding YES CCDS44636.1 ENSP00000482180 C9JLR9 UPI000192951F NM_001144936.1 deleterious(0) probably_damaging(0.999) 2/5 hmmpanther:PTHR34589,hmmpanther:PTHR34589:SF2,SMART_domains:SM00355 MODERATE 1 SNV 5 1 PASS CAC . . 63766059 CHORDC1 . GRCh38 chr11 90205454 90205454 + Splice_Region SNP A A G novel 7316-451 BS_1NWVFBTQ A A c.669+6T>C ENST00000320585 73 60 10 44 44 0 CHORDC1,splice_region_variant,,ENST00000320585,NM_012124.2;CHORDC1,splice_region_variant,,ENST00000457199,NM_001144073.1;CHORDC1,splice_region_variant,,ENST00000529726,;CHORDC1,splice_region_variant,,ENST00000529987,;CHORDC1,splice_region_variant,,ENST00000525317,;CHORDC1,splice_region_variant,,ENST00000533724,; G ENSG00000110172 ENST00000320585 Transcript splice_region_variant,intron_variant 1 -1 CHORDC1 HGNC HGNC:14525 protein_coding YES CCDS8289.1 ENSP00000319255 Q9UHD1 UPI000013F1A2 NM_012124.2 8/10 LOW 1 SNV 1 PASS TAC . . 90205454 HEPHL1 . GRCh38 chr11 94063648 94063648 + Missense_Mutation SNP T T C novel 7316-451 BS_1NWVFBTQ T T c.556T>C p.Tyr186His p.Y186H ENST00000315765 3/20 62 54 6 23 23 0 HEPHL1,missense_variant,p.Tyr186His,ENST00000315765,NM_001098672.1; C ENSG00000181333 ENST00000315765 Transcript missense_variant 564/5345 556/3480 186/1159 Y/H Tac/Cac 1 1 HEPHL1 HGNC HGNC:30477 protein_coding YES CCDS44710.1 ENSP00000313699 Q6MZM0 UPI0000237563 NM_001098672.1 deleterious(0) probably_damaging(1) 3/20 cd04222,hmmpanther:PTHR44048,hmmpanther:PTHR44048:SF3,Gene3D:2.60.40.420,Pfam_domain:PF07732,Superfamily_domains:SSF49503 MODERATE 1 SNV 5 PASS GTA . . 94063648 COPS7A . GRCh38 chr12 6724721 6724721 + Frame_Shift_Del DEL C C - novel 7316-451 BS_1NWVFBTQ C C c.66del p.Lys23ArgfsTer57 p.K23Rfs*57 ENST00000543155 2/8 83 41 38 28 28 0 COPS7A,frameshift_variant,p.Lys23ArgfsTer57,ENST00000543155,NM_001164094.1;COPS7A,frameshift_variant,p.Lys23ArgfsTer57,ENST00000534947,NM_001164093.1;COPS7A,frameshift_variant,p.Lys23ArgfsTer57,ENST00000539735,NM_001164095.2;COPS7A,frameshift_variant,p.Lys23ArgfsTer33,ENST00000626119,;COPS7A,frameshift_variant,p.Lys23ArgfsTer57,ENST00000229251,NM_016319.3;COPS7A,frameshift_variant,p.Lys23ArgfsTer57,ENST00000534877,;COPS7A,frameshift_variant,p.Lys23ArgfsTer57,ENST00000538410,;COPS7A,frameshift_variant,p.Lys23ArgfsTer57,ENST00000541866,;COPS7A,frameshift_variant,p.Lys23ArgfsTer57,ENST00000538753,;COPS7A,frameshift_variant,p.Lys23ArgfsTer57,ENST00000544725,;AC125494.3,downstream_gene_variant,,ENST00000602759,;COPS7A,intron_variant,,ENST00000542150,;COPS7A,frameshift_variant,p.Lys23ArgfsTer33,ENST00000543939,;COPS7A,frameshift_variant,p.Lys23ArgfsTer33,ENST00000455113,;COPS7A,frameshift_variant,p.Lys23ArgfsTer33,ENST00000538375,;COPS7A,frameshift_variant,p.Lys23ArgfsTer33,ENST00000536872,;COPS7A,frameshift_variant,p.Lys23ArgfsTer33,ENST00000543537,;COPS7A,frameshift_variant,p.Lys23ArgfsTer37,ENST00000546229,;COPS7A,frameshift_variant,p.Lys23ArgfsTer33,ENST00000540408,;COPS7A,frameshift_variant,p.Lys23ArgfsTer33,ENST00000543170,;COPS7A,frameshift_variant,p.Lys23ArgfsTer64,ENST00000544316,;COPS7A,frameshift_variant,p.Lys23ArgfsTer41,ENST00000537022,;COPS7A,upstream_gene_variant,,ENST00000542630,;,regulatory_region_variant,,ENSR00000048340,; - ENSG00000111652 ENST00000543155 Transcript frameshift_variant 547/2127 65/828 22/275 A/X gCc/gc 1 1 COPS7A HGNC HGNC:16758 protein_coding YES CCDS8558.1 ENSP00000438115 Q9UBW8 UPI0000035DA4 NM_001164094.1 2/8 PDB-ENSP_mappings:4d10.G,PDB-ENSP_mappings:4d10.O,PDB-ENSP_mappings:4d18.G,PDB-ENSP_mappings:4d18.O,PDB-ENSP_mappings:4wsn.G,PDB-ENSP_mappings:4wsn.O,PDB-ENSP_mappings:4wsn.W,PDB-ENSP_mappings:4wsn.e,PDB-ENSP_mappings:4wsn.m,PDB-ENSP_mappings:4wsn.u,hmmpanther:PTHR15350,hmmpanther:PTHR15350:SF7,Low_complexity_(Seg):seg HIGH 1 deletion 1 1 PASS GGCC . . 6724720 CLSTN3 . GRCh38 chr12 7137047 7137047 + Frame_Shift_Del DEL G G - novel 7316-451 BS_1NWVFBTQ G G c.1148del p.Gly383AlafsTer2 p.G383Afs*2 ENST00000266546 7/18 66 32 32 22 21 0 CLSTN3,frameshift_variant,p.Gly395AlafsTer2,ENST00000537408,;CLSTN3,frameshift_variant,p.Gly383AlafsTer2,ENST00000266546,NM_014718.3;CLSTN3,downstream_gene_variant,,ENST00000534830,;CLSTN3,downstream_gene_variant,,ENST00000535452,;CLSTN3,downstream_gene_variant,,ENST00000539982,;CLSTN3,downstream_gene_variant,,ENST00000541953,;CLSTN3,downstream_gene_variant,,ENST00000545663,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000535668,;CLSTN3,downstream_gene_variant,,ENST00000541667,;CLSTN3,upstream_gene_variant,,ENST00000544584,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000540931,;CLSTN3,downstream_gene_variant,,ENST00000538933,; - ENSG00000139182 ENST00000266546 Transcript frameshift_variant 1597/4185 1147/2871 383/956 G/X Ggc/gc 1 1 CLSTN3 HGNC HGNC:18371 protein_coding YES CCDS8575.1 ENSP00000266546 Q9BQT9 UPI0000049E7C NM_014718.3 7/18 hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5,Gene3D:2.60.120.200,Superfamily_domains:SSF49899 HIGH 1 deletion 1 1 PASS ATGG . . 7137046 CLSTN3 . GRCh38 chr12 7137052 7137060 + In_Frame_Del DEL AACTCCCAA AACTCCCAA - novel 7316-451 BS_1NWVFBTQ AACTCCCAA AACTCCCAA c.1152_1160del p.Thr385_Asn387del p.T385_N387del ENST00000266546 7/18 67 31 31 22 22 0 CLSTN3,inframe_deletion,p.Thr397_Asn399del,ENST00000537408,;CLSTN3,inframe_deletion,p.Thr385_Asn387del,ENST00000266546,NM_014718.3;CLSTN3,downstream_gene_variant,,ENST00000534830,;CLSTN3,downstream_gene_variant,,ENST00000535452,;CLSTN3,downstream_gene_variant,,ENST00000539982,;CLSTN3,downstream_gene_variant,,ENST00000541953,;CLSTN3,downstream_gene_variant,,ENST00000545663,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000535668,;CLSTN3,downstream_gene_variant,,ENST00000541667,;CLSTN3,upstream_gene_variant,,ENST00000544584,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000540931,;CLSTN3,downstream_gene_variant,,ENST00000538933,; - ENSG00000139182 ENST00000266546 Transcript inframe_deletion 1602-1610/4185 1152-1160/2871 384-387/956 VTPN/V gtAACTCCCAAc/gtc 1 1 CLSTN3 HGNC HGNC:18371 protein_coding YES CCDS8575.1 ENSP00000266546 Q9BQT9 UPI0000049E7C NM_014718.3 7/18 hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5,Gene3D:2.60.120.200,Superfamily_domains:SSF49899 MODERATE 1 deletion 1 PASS GTAACTCCCAAC . . 7137051 PRH2 . GRCh38 chr12 10930757 10930757 + Missense_Mutation SNP A A G rs1049112 7316-451 BS_1NWVFBTQ A A c.196A>G p.Asn66Asp p.N66D ENST00000396400 3/4 78 60 17 34 33 0 PRH2,missense_variant,p.Asn66Asp,ENST00000396400,NM_001110213.1;PRH2,missense_variant,p.Asn66Asp,ENST00000381847,;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546317,;AC018630.2,intron_variant,,ENST00000536668,; G ENSG00000134551 ENST00000396400 Transcript missense_variant 234/673 196/501 66/166 N/D Aat/Gat rs1049112,COSM4146545 1 1 PRH2 HGNC HGNC:9367 protein_coding YES CCDS8636.1 ENSP00000379682 P02810 UPI000013CF3F NM_001110213.1 tolerated_low_confidence(1) benign(0) 3/4 mobidb-lite,hmmpanther:PTHR23203:SF12,hmmpanther:PTHR23203,Pfam_domain:PF15240,SMART_domains:SM01412 0,1 19050733,28824325,29191562 MODERATE 1 SNV 1 0,1 PASS GAA . . 0.09983 0.1046 0.1436 0.04491 0.1581 0.1397 0.08103 0.1114 0.07817 10930757 KRT79 . GRCh38 chr12 52821940 52821940 + Missense_Mutation SNP G G T novel 7316-451 BS_1NWVFBTQ G G c.1540C>A p.Pro514Thr p.P514T ENST00000330553 9/9 61 34 26 42 41 0 KRT79,missense_variant,p.Pro514Thr,ENST00000330553,NM_175834.2;KRT79,3_prime_UTR_variant,,ENST00000549255,;KRT79,non_coding_transcript_exon_variant,,ENST00000546453,; T ENSG00000185640 ENST00000330553 Transcript missense_variant 1575/2068 1540/1608 514/535 P/T Cca/Aca 1 -1 KRT79 HGNC HGNC:28930 protein_coding YES CCDS8839.1 ENSP00000328358 Q5XKE5 UPI0000198204 NM_175834.2 tolerated_low_confidence(0.15) benign(0.007) 9/9 hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138 MODERATE 1 SNV 1 PASS GGC . . 52821940 AC087386.1 . GRCh38 chr15 20144962 20144962 + Splice_Region SNP G G A rs71249518 7316-451 BS_1NWVFBTQ G G n.424-4C>T ENST00000553658 49 37 10 21 21 0 AC087386.1,splice_region_variant,,ENST00000553658,;AC087386.2,non_coding_transcript_exon_variant,,ENST00000623212,; A ENSG00000258410 ENST00000553658 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs71249518 1 -1 AC087386.1 Clone_based_ensembl_gene lincRNA YES 2/3 LOW 1 SNV 4 PASS AGA . . 20144962 GOLGA8T . GRCh38 chr15 30141071 30141082 + In_Frame_Del DEL GATGAGTATTCT GATGAGTATTCT - novel 7316-451 BS_1NWVFBTQ GATGAGTATTCT GATGAGTATTCT c.717_728del p.Asp239_Ser242del p.D239_S242del ENST00000569052 10/19 43 27 12 31 31 0 GOLGA8T,inframe_deletion,p.Asp239_Ser242del,ENST00000569052,;RN7SL469P,upstream_gene_variant,,ENST00000621501,;GOLGA8T,downstream_gene_variant,,ENST00000565649,; - ENSG00000261247 ENST00000569052 Transcript inframe_deletion 715-726/1896 715-726/1896 239-242/631 DEYS/- GATGAGTATTCT/- 1 1 GOLGA8T HGNC HGNC:44410 protein_coding YES ENSP00000455826 H3BQL2 UPI000246730F 10/19 Gene3D:1.20.1170.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF59 MODERATE 1 deletion 5 2 PASS GAGATGAGTATTCTG . . 30141070 NME3 . GRCh38 chr16 1770711 1770711 + Missense_Mutation SNP A A C novel 7316-451 BS_1NWVFBTQ A A c.448T>G p.Trp150Gly p.W150G ENST00000219302 5/5 57 31 25 39 38 0 NME3,missense_variant,p.Trp150Gly,ENST00000219302,NM_002513.2;NME3,missense_variant,p.Trp66Gly,ENST00000563498,;NME3,3_prime_UTR_variant,,ENST00000564628,;MRPS34,downstream_gene_variant,,ENST00000177742,NM_001300900.1;MAPK8IP3,downstream_gene_variant,,ENST00000250894,NM_015133.4;MAPK8IP3,downstream_gene_variant,,ENST00000356010,NM_001040439.1;MRPS34,downstream_gene_variant,,ENST00000397375,NM_023936.1;EME2,upstream_gene_variant,,ENST00000568449,NM_001257370.1;MAPK8IP3,downstream_gene_variant,,ENST00000610761,NM_001318852.1;NME3,3_prime_UTR_variant,,ENST00000568561,;NME3,3_prime_UTR_variant,,ENST00000563854,;NME3,non_coding_transcript_exon_variant,,ENST00000561637,;NME3,non_coding_transcript_exon_variant,,ENST00000566600,;NME3,non_coding_transcript_exon_variant,,ENST00000565379,;NME3,non_coding_transcript_exon_variant,,ENST00000563367,;NME3,non_coding_transcript_exon_variant,,ENST00000567271,;NME3,non_coding_transcript_exon_variant,,ENST00000564252,;EME2,upstream_gene_variant,,ENST00000561564,;EME2,upstream_gene_variant,,ENST00000561903,;MAPK8IP3,downstream_gene_variant,,ENST00000562042,;MAPK8IP3,downstream_gene_variant,,ENST00000563868,;MAPK8IP3,downstream_gene_variant,,ENST00000564868,;EME2,upstream_gene_variant,,ENST00000565326,;MAPK8IP3,downstream_gene_variant,,ENST00000566064,;MAPK8IP3,downstream_gene_variant,,ENST00000567352,;MRPS34,downstream_gene_variant,,ENST00000569585,;EME2,upstream_gene_variant,,ENST00000570069,; C ENSG00000103024 ENST00000219302 Transcript missense_variant 644/1069 448/510 150/169 W/G Tgg/Ggg 1 -1 NME3 HGNC HGNC:7851 protein_coding YES CCDS10443.1 ENSP00000219302 Q13232 UPI000012FE88 NM_002513.2 deleterious(0) probably_damaging(1) 5/5 PDB-ENSP_mappings:1zs6.A,PDB-ENSP_mappings:1zs6.B,PDB-ENSP_mappings:1zs6.D,Gene3D:3.30.70.141,HAMAP:MF_00451,Pfam_domain:PF00334,Prints_domain:PR01243,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF54,SMART_domains:SM00562,Superfamily_domains:SSF54919,cd04413 MODERATE 1 SNV 1 PASS CAG . . 1770711 CYB5B . GRCh38 chr16 69459086 69459086 + Splice_Region SNP A A T rs199524537 7316-451 BS_1NWVFBTQ A A c.334-7A>T ENST00000307892 63 43 7 34 31 1 CYB5B,splice_region_variant,,ENST00000307892,NM_030579.2;CYB5B,splice_region_variant,,ENST00000512062,;CYB5B,splice_region_variant,,ENST00000561792,;CYB5B,splice_region_variant,,ENST00000568237,;CYB5B,intron_variant,,ENST00000515314,;AC026464.2,upstream_gene_variant,,ENST00000567834,;CYB5B,splice_region_variant,,ENST00000568342,; T ENSG00000103018 ENST00000307892 Transcript splice_region_variant,intron_variant rs199524537,COSM5468679 1 1 CYB5B HGNC HGNC:24374 protein_coding YES CCDS10880.2 ENSP00000308430 J3KNF8 UPI00000710AB NM_030579.2 3/4 0,1 LOW 1 SNV 1 0,1 PASS TAT . . 0.02118 0.02608 0.01582 0.01219 0.007632 0.05823 0.01864 0.01544 0.0186 69459086 CLEC18B . GRCh38 chr16 74411739 74411739 + Missense_Mutation SNP C C T rs1407798531 7316-451 BS_1NWVFBTQ C C c.914G>A p.Arg305Lys p.R305K ENST00000339953 8/13 73 58 13 32 32 0 CLEC18B,missense_variant,p.Arg305Lys,ENST00000617101,;CLEC18B,missense_variant,p.Arg305Lys,ENST00000619275,;CLEC18B,missense_variant,p.Arg305Lys,ENST00000339953,NM_001011880.2;CLEC18B,3_prime_UTR_variant,,ENST00000620745,;CLEC18B,non_coding_transcript_exon_variant,,ENST00000564842,;CLEC18B,downstream_gene_variant,,ENST00000425714,; T ENSG00000140839 ENST00000339953 Transcript missense_variant 1036/1865 914/1368 305/455 R/K aGg/aAg rs1407798531 1 -1 CLEC18B HGNC HGNC:33849 protein_coding YES CCDS32484.1 ENSP00000341051 Q6UXF7 UPI000025210E NM_001011880.2 tolerated_low_confidence(0.2) benign(0) 8/13 Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436,hmmpanther:PTHR10334:SF245,hmmpanther:PTHR10334 MODERATE 1 SNV 1 PASS CCT . . 74411739 SARM1 . GRCh38 chr17 28381291 28381291 + Missense_Mutation SNP A A G novel 7316-451 BS_1NWVFBTQ A A c.559A>G p.Ile187Val p.I187V ENST00000585482 2/9 77 69 6 29 29 0 SARM1,missense_variant,p.Ile187Val,ENST00000585482,NM_015077.3;SARM1,upstream_gene_variant,,ENST00000578128,;SARM1,non_coding_transcript_exon_variant,,ENST00000379061,;AC002094.1,non_coding_transcript_exon_variant,,ENST00000591482,;SARM1,upstream_gene_variant,,ENST00000577870,;SARM1,upstream_gene_variant,,ENST00000582323,;SARM1,upstream_gene_variant,,ENST00000585453,;,regulatory_region_variant,,ENSR00000282977,; G ENSG00000004139 ENST00000585482 Transcript missense_variant 930/10309 559/2175 187/724 I/V Atc/Gtc 1 1 SARM1 HGNC HGNC:17074 protein_coding YES CCDS11230.2 ENSP00000468032 Q6SZW1 UPI000021FB54 NM_015077.3 deleterious(0) probably_damaging(0.93) 2/9 Gene3D:1.25.10.10,hmmpanther:PTHR22998,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS CAT . . 28381291 C2CD4C . GRCh38 chr19 408090 408091 + Frame_Shift_Ins INS - - G novel 7316-451 BS_1NWVFBTQ - - c.271dup p.Arg91ProfsTer37 p.R91Pfs*37 ENST00000332235 2/2 58 30 23 33 33 0 C2CD4C,frameshift_variant,p.Arg91ProfsTer37,ENST00000332235,NM_001136263.1; G ENSG00000183186 ENST00000332235 Transcript frameshift_variant 476-477/3129 271-272/1266 91/421 R/PX cgg/cCgg 1 -1 C2CD4C HGNC HGNC:29417 protein_coding YES CCDS45890.1 ENSP00000328677 Q8TF44 UPI00001C2016 NM_001136263.1 2/2 mobidb-lite,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF116 HIGH 1 insertion 2 PASS CCG . . 408090 FUT6 . GRCh38 chr19 5831958 5831958 + Missense_Mutation SNP C C T rs760575978 7316-451 BS_1NWVFBTQ C C c.610G>A p.Ala204Thr p.A204T ENST00000318336 3/3 72 39 30 27 27 0 FUT6,missense_variant,p.Ala204Thr,ENST00000318336,NM_000150.2;FUT6,missense_variant,p.Ala204Thr,ENST00000286955,NM_001040701.1;FUT6,missense_variant,p.Ala204Thr,ENST00000524754,;FUT6,missense_variant,p.Ala204Thr,ENST00000527106,;FUT6,missense_variant,p.Ala204Thr,ENST00000592563,;NRTN,downstream_gene_variant,,ENST00000303212,NM_004558.3;FUT6,downstream_gene_variant,,ENST00000528505,;FUT6,downstream_gene_variant,,ENST00000529165,;FUT6,downstream_gene_variant,,ENST00000531085,;FUT6,downstream_gene_variant,,ENST00000531199,;FUT6,downstream_gene_variant,,ENST00000532464,;FUT6,downstream_gene_variant,,ENST00000526499,; T ENSG00000156413 ENST00000318336 Transcript missense_variant 1805/3137 610/1080 204/359 A/T Gcc/Acc rs760575978 1 -1 FUT6 HGNC HGNC:4017 protein_coding YES CCDS12152.1 ENSP00000313398 P51993 UPI000012ADAC NM_000150.2 tolerated(0.61) benign(0.148) 3/3 Pfam_domain:PF00852,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF190,Superfamily_domains:SSF53756 MODERATE SNV 2 1 PASS GCG . . 4.876e-05 2.978e-05 0.0003574 5831958 ADGRL1 . GRCh38 chr19 14155530 14155530 + Splice_Region SNP G G A rs1417762495 7316-451 BS_1NWVFBTQ G G c.3141-3C>T ENST00000340736 58 38 20 33 33 0 ADGRL1,splice_region_variant,,ENST00000340736,NM_001008701.2;ADGRL1,splice_region_variant,,ENST00000361434,NM_014921.4;ADGRL1,downstream_gene_variant,,ENST00000589616,;ADGRL1,upstream_gene_variant,,ENST00000592164,;ADGRL1,upstream_gene_variant,,ENST00000593005,;AC022098.1,non_coding_transcript_exon_variant,,ENST00000588658,;AC022098.1,intron_variant,,ENST00000588387,;AC022098.1,intron_variant,,ENST00000592086,;ADGRL1,downstream_gene_variant,,ENST00000588677,; A ENSG00000072071 ENST00000340736 Transcript splice_region_variant,intron_variant rs1417762495 1 -1 ADGRL1 HGNC HGNC:20973 protein_coding YES CCDS32928.1 ENSP00000340688 O94910 UPI000005046A NM_001008701.2 18/23 LOW 1 SNV 1 PASS TGG . . 1.223e-05 0.000174 14155530 EPS15L1 . GRCh38 chr19 16440893 16440893 + Missense_Mutation SNP T T C novel 7316-451 BS_1NWVFBTQ T T c.182A>G p.Asp61Gly p.D61G ENST00000455140 4/24 76 62 13 23 23 0 EPS15L1,missense_variant,p.Asp61Gly,ENST00000597937,NM_001258376.1;EPS15L1,missense_variant,p.Asp61Gly,ENST00000455140,NM_001258374.1;EPS15L1,missense_variant,p.Asp61Gly,ENST00000248070,NM_021235.2;EPS15L1,missense_variant,p.Asp61Gly,ENST00000535753,NM_001258375.1;EPS15L1,missense_variant,p.Asp61Gly,ENST00000594975,;EPS15L1,missense_variant,p.Asp61Gly,ENST00000602151,;AC020917.2,upstream_gene_variant,,ENST00000587343,;EPS15L1,missense_variant,p.Asp61Gly,ENST00000602022,;EPS15L1,missense_variant,p.Asp61Gly,ENST00000592031,;EPS15L1,missense_variant,p.Asp61Gly,ENST00000596037,;EPS15L1,non_coding_transcript_exon_variant,,ENST00000597559,;EPS15L1,intron_variant,,ENST00000593760,;EPS15L1,downstream_gene_variant,,ENST00000595845,; C ENSG00000127527 ENST00000455140 Transcript missense_variant 249/3266 182/2733 61/910 D/G gAt/gGt 1 -1 EPS15L1 HGNC HGNC:24634 protein_coding YES CCDS58654.1 ENSP00000393313 Q9UBC2 UPI0000D4C04A NM_001258374.1 deleterious(0) probably_damaging(0.999) 4/24 Gene3D:1.10.238.10,Pfam_domain:PF12763,PROSITE_profiles:PS50031,PROSITE_profiles:PS50222,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF69,SMART_domains:SM00027,SMART_domains:SM00054,Superfamily_domains:SSF47473,cd00052 MODERATE 1 SNV 2 PASS ATC . . 16440893 RHPN2 . GRCh38 chr19 32999660 32999660 + Missense_Mutation SNP T T C rs74582927 7316-451 BS_1NWVFBTQ T T c.1151A>G p.Gln384Arg p.Q384R ENST00000254260 10/15 87 70 13 33 33 0 RHPN2,missense_variant,p.Gln384Arg,ENST00000254260,NM_033103.4;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,non_coding_transcript_exon_variant,,ENST00000544458,;RHPN2,upstream_gene_variant,,ENST00000585641,; C ENSG00000131941 ENST00000254260 Transcript missense_variant 1187/3500 1151/2061 384/686 Q/R cAg/cGg rs74582927,COSM1480906 1 -1 RHPN2 HGNC HGNC:19974 protein_coding YES CCDS12427.1 ENSP00000254260 Q8IUC4 UPI00000747A3 NM_033103.4 deleterious(0.03) probably_damaging(0.982) 10/15 Gene3D:1.25.40.280,Pfam_domain:PF03097,PROSITE_profiles:PS51180,hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF5,SMART_domains:SM01041,cd09249 0.3003 0.2176 0.2401 0.2883 0.32 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 0.2666 0.201 0.1833 0.3284 0.1173 0.3941 0.2996 0.2572 0.2383 32999660 AXL . GRCh38 chr19 41248743 41248743 + Missense_Mutation SNP G G T novel 7316-451 BS_1NWVFBTQ G G c.1634G>T p.Gly545Val p.G545V ENST00000301178 14/20 71 37 31 34 34 0 AXL,missense_variant,p.Gly545Val,ENST00000301178,NM_021913.4;AXL,missense_variant,p.Gly536Val,ENST00000359092,NM_001699.5;AXL,missense_variant,p.Gly277Val,ENST00000593513,NM_001278599.1;AXL,downstream_gene_variant,,ENST00000599659,; T ENSG00000167601 ENST00000301178 Transcript missense_variant,splice_region_variant 1824/4737 1634/2685 545/894 G/V gGa/gTa 1 1 AXL HGNC HGNC:905 protein_coding YES CCDS12575.1 ENSP00000301178 P30530 UPI000014319B NM_021913.4 deleterious(0) probably_damaging(1) 14/20 Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000615,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF323,SMART_domains:SM00219,Superfamily_domains:SSF56112,cd05075 MODERATE 1 SNV 1 1 PASS GGA . . 41248743 PPFIA3 . GRCh38 chr19 49142104 49142104 + Missense_Mutation SNP T T C novel 7316-451 BS_1NWVFBTQ T T c.2533T>C p.Ser845Pro p.S845P ENST00000334186 20/30 65 51 13 25 25 0 PPFIA3,missense_variant,p.Ser845Pro,ENST00000334186,NM_003660.3;PPFIA3,missense_variant,p.Ser845Pro,ENST00000602351,;PPFIA3,upstream_gene_variant,,ENST00000602848,;PPFIA3,3_prime_UTR_variant,,ENST00000602655,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000421230,;PPFIA3,downstream_gene_variant,,ENST00000602716,;PPFIA3,upstream_gene_variant,,ENST00000602800,; C ENSG00000177380 ENST00000334186 Transcript missense_variant 2882/4733 2533/3585 845/1194 S/P Tcc/Ccc 1 1 PPFIA3 HGNC HGNC:9247 protein_coding YES CCDS12758.1 ENSP00000335614 O75145 UPI00001AE464 NM_003660.3 deleterious(0) possibly_damaging(0.464) 20/30 PROSITE_profiles:PS50105,cd09562,hmmpanther:PTHR12587:SF4,hmmpanther:PTHR12587,Pfam_domain:PF00536,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769 MODERATE 1 SNV 1 PASS GTC . . 49142104 ZNF880 . GRCh38 chr19 52373156 52373156 + Nonsense_Mutation SNP G G T novel 7316-451 BS_1NWVFBTQ G G c.58G>T p.Glu20Ter p.E20* ENST00000422689 2/4 61 47 13 25 25 0 ZNF880,stop_gained,p.Glu20Ter,ENST00000422689,NM_001145434.1;ZNF880,stop_gained,p.Glu20Ter,ENST00000600321,;ZNF880,stop_gained,p.Glu20Ter,ENST00000424032,;ZNF880,stop_gained,p.Glu20Ter,ENST00000344085,;ZNF880,stop_gained,p.Glu20Ter,ENST00000597976,;ZNF880,downstream_gene_variant,,ENST00000595099,; T ENSG00000221923 ENST00000422689 Transcript stop_gained 73/2230 58/1734 20/577 E/* Gag/Tag 1 1 ZNF880 HGNC HGNC:37249 protein_coding YES CCDS46164.1 ENSP00000406318 Q6PDB4 UPI00001D818D NM_001145434.1 2/4 PROSITE_profiles:PS50805,cd07765,hmmpanther:PTHR24377:SF703,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:SSF109640 HIGH 1 SNV 2 PASS GGA . . 52373156 RSPO4 . GRCh38 chr20 968019 968032 + Frame_Shift_Del DEL CGTACTGGCGGATG CGTACTGGCGGATG - novel 7316-451 BS_1NWVFBTQ CGTACTGGCGGATG CGTACTGGCGGATG c.186_199del p.Ile63GlnfsTer29 p.I63Qfs*29 ENST00000217260 2/5 73 51 22 42 42 0 RSPO4,frameshift_variant,p.Ile63GlnfsTer29,ENST00000217260,NM_001029871.3;RSPO4,frameshift_variant,p.Ile63GlnfsTer29,ENST00000400634,NM_001040007.2;,regulatory_region_variant,,ENSR00000297030,; - ENSG00000101282 ENST00000217260 Transcript frameshift_variant 283-296/2707 186-199/705 62-67/234 GIRQYG/GX ggCATCCGCCAGTACGgc/gggc 1 -1 RSPO4 HGNC HGNC:16175 protein_coding YES CCDS42846.1 ENSP00000217260 Q2I0M5 UPI00001D8320 NM_001029871.3 2/5 hmmpanther:PTHR23275:SF51,hmmpanther:PTHR23275,Gene3D:2.10.220.10,Pfam_domain:PF15913,SMART_domains:SM00261,Superfamily_domains:SSF57184 HIGH 1 deletion 1 1 PASS GCCGTACTGGCGGATGC . . 968018 AP000311.1 . GRCh38 chr21 33907354 33907354 + Missense_Mutation SNP A A C novel 7316-451 BS_1NWVFBTQ A A c.428T>G p.Val143Gly p.V143G ENST00000429238 6/8 77 31 41 34 34 0 AP000311.1,missense_variant,p.Val143Gly,ENST00000429238,;ATP5PO,missense_variant,p.Val143Gly,ENST00000290299,NM_001697.2;ATP5PO,missense_variant,p.Val39Gly,ENST00000418933,;ATP5PO,missense_variant,p.Val20Gly,ENST00000417181,;ATP5PO,missense_variant,p.Val22Gly,ENST00000429064,;ATP5PO,3_prime_UTR_variant,,ENST00000431254,;ATP5PO,non_coding_transcript_exon_variant,,ENST00000491703,;ATP5PO,downstream_gene_variant,,ENST00000495005,; C ENSG00000249209 ENST00000429238 Transcript missense_variant 779/1078 428/727 143/242 V/G gTg/gGg 1 -1 AP000311.1 Clone_based_ensembl_gene protein_coding YES ENSP00000394107 H7C0C1 UPI0004F236C6 deleterious(0.01) possibly_damaging(0.709) 6/8 Pfam_domain:PF00213,hmmpanther:PTHR11910,hmmpanther:PTHR11910:SF1,TIGRFAM_domain:TIGR01145 MODERATE SNV 5 PASS CAC . . 33907354 SUSD2 . GRCh38 chr22 24183081 24183081 + Missense_Mutation SNP G G A rs62231981 7316-451 BS_1NWVFBTQ G G c.101G>A p.Arg34His p.R34H ENST00000358321 2/15 92 73 19 25 23 0 SUSD2,missense_variant,p.Arg34His,ENST00000358321,NM_019601.3;CABIN1,downstream_gene_variant,,ENST00000263119,NM_012295.3;CABIN1,downstream_gene_variant,,ENST00000337989,;CABIN1,downstream_gene_variant,,ENST00000398319,NM_001199281.1;CABIN1,downstream_gene_variant,,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000617531,NM_001201429.1;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,; A ENSG00000099994 ENST00000358321 Transcript missense_variant 362/3404 101/2469 34/822 R/H cGc/cAc rs62231981,COSM1178084 1 1 SUSD2 HGNC HGNC:30667 protein_coding YES CCDS13824.1 ENSP00000351075 Q9UGT4 A0A140VJW3 UPI000006CC92 NM_019601.3 tolerated(0.08) benign(0.133) 2/15 PROSITE_profiles:PS50958,hmmpanther:PTHR13802:SF43,hmmpanther:PTHR13802,Pfam_domain:PF01033,Superfamily_domains:SSF90188 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.4722 0.3229 0.4827 0.4869 0.4767 0.4939 0.4844 0.4738 0.4554 24183081 DEPDC5 . GRCh38 chr22 31845076 31845076 + Missense_Mutation SNP A A G novel 7316-451 BS_1NWVFBTQ A A c.2860A>G p.Thr954Ala p.T954A ENST00000400246 30/43 62 49 9 33 32 1 DEPDC5,missense_variant,p.Thr945Ala,ENST00000642696,;DEPDC5,missense_variant,p.Thr945Ala,ENST00000645711,NM_001136029.2;DEPDC5,missense_variant,p.Thr954Ala,ENST00000400246,NM_001242896.1;DEPDC5,missense_variant,p.Thr954Ala,ENST00000382112,;DEPDC5,missense_variant,p.Thr954Ala,ENST00000644331,;DEPDC5,missense_variant,p.Thr954Ala,ENST00000400249,;DEPDC5,missense_variant,p.Thr926Ala,ENST00000433147,;DEPDC5,missense_variant,p.Thr945Ala,ENST00000400248,NM_014662.4;DEPDC5,missense_variant,p.Thr876Ala,ENST00000646969,;DEPDC5,missense_variant,p.Thr876Ala,ENST00000646465,;DEPDC5,missense_variant,p.Thr954Ala,ENST00000382111,;DEPDC5,missense_variant,p.Thr876Ala,ENST00000645560,;DEPDC5,missense_variant,p.Thr876Ala,ENST00000535622,NM_001242897.1;DEPDC5,missense_variant,p.Thr962Ala,ENST00000645407,;DEPDC5,missense_variant,p.Thr926Ala,ENST00000647343,;Z82190.2,intron_variant,,ENST00000646701,;DEPDC5,upstream_gene_variant,,ENST00000494060,;DEPDC5,missense_variant,p.Thr954Ala,ENST00000646515,;DEPDC5,missense_variant,p.Thr954Ala,ENST00000646998,;DEPDC5,missense_variant,p.Thr876Ala,ENST00000643395,;DEPDC5,missense_variant,p.Thr954Ala,ENST00000643751,;DEPDC5,missense_variant,p.Thr306Ala,ENST00000448753,;DEPDC5,3_prime_UTR_variant,,ENST00000642684,;DEPDC5,3_prime_UTR_variant,,ENST00000645494,;DEPDC5,3_prime_UTR_variant,,ENST00000642771,;DEPDC5,3_prime_UTR_variant,,ENST00000644162,;DEPDC5,3_prime_UTR_variant,,ENST00000645755,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000642551,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000645893,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000646135,;DEPDC5,downstream_gene_variant,,ENST00000471914,;DEPDC5,downstream_gene_variant,,ENST00000490731,; G ENSG00000100150 ENST00000400246 Transcript missense_variant 3026/5424 2860/4812 954/1603 T/A Acc/Gcc 1 1 DEPDC5 HGNC HGNC:18423 protein_coding YES CCDS74849.1 ENSP00000383105 O75140 UPI000192C426 NM_001242896.1 tolerated(0.52) benign(0.013) 30/43 hmmpanther:PTHR13179 MODERATE 1 SNV 1 1 PASS CAC . . 31845076 RRP7A . GRCh38 chr22 42514159 42514159 + Missense_Mutation SNP C C T rs74731503 7316-451 BS_1NWVFBTQ C C c.704G>A p.Arg235Gln p.R235Q ENST00000323013 6/7 84 68 15 26 25 0 RRP7A,missense_variant,p.Arg235Gln,ENST00000323013,NM_015703.4;SERHL,downstream_gene_variant,,ENST00000359906,;RRP7A,downstream_gene_variant,,ENST00000416699,;SERHL,downstream_gene_variant,,ENST00000455578,;RRP7A,downstream_gene_variant,,ENST00000483303,;SERHL,downstream_gene_variant,,ENST00000642172,; T ENSG00000189306 ENST00000323013 Transcript missense_variant 720/3801 704/843 235/280 R/Q cGa/cAa rs74731503 1 -1 RRP7A HGNC HGNC:24286 protein_coding YES CCDS14036.1 ENSP00000321449 Q9Y3A4 UPI000013C6B7 NM_015703.4 tolerated(0.15) benign(0.26) 6/7 Gene3D:3.30.70.330,Pfam_domain:PF12923,hmmpanther:PTHR13191,cd12951,Low_complexity_(Seg):seg 0.004539 0.02174 MODERATE 1 SNV 1 PASS TCG . . 0.0143 0.002578 0.006089 0.003472 0.0001741 0.02662 0.02322 0.01352 0.0005223 42514159 MID1 . GRCh38 chrX 10523193 10523193 + Splice_Region SNP C C A rs868267567 7316-451 BS_1NWVFBTQ C C c.661-6G>T ENST00000317552 42 34 8 19 18 0 MID1,splice_region_variant,,ENST00000317552,NM_000381.3,NM_033289.1;MID1,splice_region_variant,,ENST00000380779,NM_001193277.1;MID1,splice_region_variant,,ENST00000380780,NM_001347733.1;MID1,splice_region_variant,,ENST00000380782,;MID1,splice_region_variant,,ENST00000380785,;MID1,splice_region_variant,,ENST00000380787,NM_033290.3;MID1,splice_region_variant,,ENST00000413894,;MID1,splice_region_variant,,ENST00000453318,NM_001098624.2;MID1,splice_region_variant,,ENST00000610939,NM_001193281.1;MID1,splice_region_variant,,ENST00000616003,NM_001193279.1,NM_001193280.1,NM_001193278.1; A ENSG00000101871 ENST00000317552 Transcript splice_region_variant,intron_variant rs868267567 1 -1 MID1 HGNC HGNC:7095 protein_coding YES CCDS14138.1 ENSP00000312678 O15344 A0A024RBV4 UPI000012F0E6 NM_000381.3,NM_033289.1 2/9 LOW 1 SNV 1 1 PASS TCA . . 0.04155 0.03403 0.04971 0.0373 0.04975 0.06166 0.03716 0.04038 0.03548 10523193 ZNF326 . GRCh38 chr1 90027565 90027565 + Missense_Mutation SNP T T G 7316-873 BS_NCF4MJ9S T T c.1613T>G p.Val538Gly p.V538G ENST00000340281 12/12 76 53 12 34 32 2 ZNF326,missense_variant,p.Val449Gly,ENST00000370447,NM_181781.3,NM_001320185.1;ZNF326,missense_variant,p.Val538Gly,ENST00000340281,NM_182976.3;ZNF326,3_prime_UTR_variant,,ENST00000394583,; G ENSG00000162664 ENST00000340281 Transcript missense_variant 1756/2729 1613/1749 538/582 V/G gTa/gGa COSM4010513 1 1 ZNF326 HGNC HGNC:14104 protein_coding YES CCDS727.1 ENSP00000340796 Q5BKZ1 UPI0000160AB2 NM_182976.3 tolerated_low_confidence(0.07) benign(0) 12/12 hmmpanther:PTHR12190,hmmpanther:PTHR12190:SF1,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS GTA . . 90027565 ZFP36L2 . GRCh38 chr2 43224601 43224603 + In_Frame_Del DEL CTG CTG - rs765410812 7316-873 BS_NCF4MJ9S CTG CTG c.1201_1203del p.Gln401del p.Q401del ENST00000282388 2/2 67 53 7 52 45 0 ZFP36L2,inframe_deletion,p.Gln401del,ENST00000282388,NM_006887.4;LINC01126,upstream_gene_variant,,ENST00000623515,;AC010883.1,upstream_gene_variant,,ENST00000423354,;,regulatory_region_variant,,ENSR00000116141,; - ENSG00000152518 ENST00000282388 Transcript inframe_deletion 1495-1497/3696 1201-1203/1485 401/494 Q/- CAG/- rs765410812,TMP_ESP_2_43451740_43451742,COSM6052855 1 -1 ZFP36L2 HGNC HGNC:1108 protein_coding YES CCDS1811.1 ENSP00000282388 P47974 UPI000013DCDA NM_006887.4 2/2 hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF100,mobidb-lite,Low_complexity_(Seg):seg 0.04737 0.06044 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS CCCTGC . . 0.05305 0.03085 0.06401 0.05483 0.04654 0.0465 0.05287 0.04598 0.05477 43224600 TUBA3D . GRCh38 chr2 131480354 131480354 + Missense_Mutation SNP C C A rs200147665 7316-873 BS_NCF4MJ9S C C c.661C>A p.Arg221Ser p.R221S ENST00000321253 4/5 62 54 8 43 43 0 TUBA3D,missense_variant,p.Arg221Ser,ENST00000321253,NM_080386.3;MZT2A,downstream_gene_variant,,ENST00000309451,NM_001085365.1;TUBA3D,downstream_gene_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000410036,;MZT2A,intron_variant,,ENST00000427024,;MZT2A,intron_variant,,ENST00000445782,; A ENSG00000075886 ENST00000321253 Transcript missense_variant 768/1546 661/1353 221/450 R/S Cgt/Agt rs200147665,COSM226509 1 1 TUBA3D HGNC HGNC:24071 protein_coding YES CCDS33290.1 ENSP00000326042 Q13748 Q1ZYQ1 UPI0000027DB1 NM_080386.3 deleterious_low_confidence(0.04) benign(0.122) 4/5 Gene3D:3.40.50.1440,Prints_domain:PR01162,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF243,SMART_domains:SM00864,Superfamily_domains:SSF52490,cd02186 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACG . . 0.01866 0.03081 0.02547 0.02008 0.03186 0.02738 0.01338 0.01589 0.01173 131480354 SVIL . GRCh38 chr10 29490918 29490918 + Missense_Mutation SNP A A C rs199726033 7316-873 BS_NCF4MJ9S A A c.4121T>G p.Leu1374Arg p.L1374R ENST00000355867 22/38 83 67 15 39 38 0 SVIL,missense_variant,p.Leu1342Arg,ENST00000375398,;SVIL,missense_variant,p.Leu1374Arg,ENST00000355867,NM_001323599.1,NM_021738.2;SVIL,missense_variant,p.Leu948Arg,ENST00000375400,NM_001323600.1,NM_003174.3;SVIL,missense_variant,p.Leu300Arg,ENST00000632315,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL-AS1,downstream_gene_variant,,ENST00000413405,;SVIL,upstream_gene_variant,,ENST00000482607,;SVIL,downstream_gene_variant,,ENST00000491872,; C ENSG00000197321 ENST00000355867 Transcript missense_variant 4874/7586 4121/6645 1374/2214 L/R cTc/cGc rs199726033,COSM146919 1 -1 SVIL HGNC HGNC:11480 protein_coding YES CCDS7164.1 ENSP00000348128 O95425 UPI0000366678 NM_001323599.1,NM_021738.2 deleterious(0) possibly_damaging(0.506) 22/38 hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF45 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.1071 0.01054 0.06654 0.2243 0.01734 0.1831 0.1105 0.1149 0.1928 29490918 AGAP9 . GRCh38 chr10 47502991 47502991 + Missense_Mutation SNP C C T 7316-873 BS_NCF4MJ9S C C c.1138G>A p.Gly380Ser p.G380S ENST00000452145 8/8 38 29 8 27 26 0 AGAP9,missense_variant,p.Gly380Ser,ENST00000452145,NM_001190810.1;AL591684.1,downstream_gene_variant,,ENST00000434533,; T ENSG00000204172 ENST00000452145 Transcript missense_variant 1250/2387 1138/1977 380/658 G/S Ggt/Agt COSM1600148,COSM1600147 1 -1 AGAP9 HGNC HGNC:23463 protein_coding YES CCDS73125.1 ENSP00000392206 Q5VTM2 UPI000019733B NM_001190810.1 tolerated(1) benign(0) 8/8 Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF383,SMART_domains:SM00233,cd01250 1,1 MODERATE 1 SNV 1 1,1 PASS CCG . . 47502991 PRH2 . GRCh38 chr12 10930757 10930757 + Missense_Mutation SNP A A G rs1049112 7316-873 BS_NCF4MJ9S A A c.196A>G p.Asn66Asp p.N66D ENST00000396400 3/4 74 61 12 32 32 0 PRH2,missense_variant,p.Asn66Asp,ENST00000396400,NM_001110213.1;PRH2,missense_variant,p.Asn66Asp,ENST00000381847,;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546317,;AC018630.2,intron_variant,,ENST00000536668,; G ENSG00000134551 ENST00000396400 Transcript missense_variant 234/673 196/501 66/166 N/D Aat/Gat rs1049112,COSM4146545 1 1 PRH2 HGNC HGNC:9367 protein_coding YES CCDS8636.1 ENSP00000379682 P02810 UPI000013CF3F NM_001110213.1 tolerated_low_confidence(1) benign(0) 3/4 mobidb-lite,hmmpanther:PTHR23203:SF12,hmmpanther:PTHR23203,Pfam_domain:PF15240,SMART_domains:SM01412 0,1 19050733,28824325,29191562 MODERATE 1 SNV 1 0,1 PASS GAA . . 0.09983 0.1046 0.1436 0.04491 0.1581 0.1397 0.08103 0.1114 0.07817 10930757 TAS2R30 . GRCh38 chr12 11134103 11134103 + Missense_Mutation SNP G G C rs113026132 7316-873 BS_NCF4MJ9S G G c.142C>G p.Leu48Val p.L48V ENST00000539585 1/1 73 64 7 47 47 0 TAS2R30,missense_variant,p.Leu48Val,ENST00000539585,NM_001097643.1;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541175,;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,;,regulatory_region_variant,,ENSR00000048763,; C ENSG00000256188 ENST00000539585 Transcript missense_variant 542/1687 142/960 48/319 L/V Ctc/Gtc rs113026132,COSM4593702 1 -1 TAS2R30 HGNC HGNC:19112 protein_coding YES CCDS53750.1 ENSP00000444736 P59541 UPI000006202F NM_001097643.1 deleterious(0.05) possibly_damaging(0.519) 1/1 Transmembrane_helices:TMhelix,cd15027,hmmpanther:PTHR11394:SF48,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS AGA . . 2.033e-05 8.94e-05 1.795e-05 11134103 AC087498.1 . GRCh38 chr17 3386443 3386443 + Missense_Mutation SNP A A C novel 7316-873 BS_NCF4MJ9S A A c.514A>C p.Thr172Pro p.T172P ENST00000572493 1/1 79 58 14 34 31 2 AC087498.1,missense_variant,p.Thr172Pro,ENST00000572493,;OR3A2,upstream_gene_variant,,ENST00000573491,;OR3A2,upstream_gene_variant,,ENST00000576166,;OR3A2,upstream_gene_variant,,ENST00000573901,; C ENSG00000180042 ENST00000572493 Transcript missense_variant 514/945 514/945 172/314 T/P Acc/Ccc 1 1 AC087498.1 Clone_based_ensembl_gene protein_coding YES ENSP00000492889 A0A286YEU6 UPI000BAD5989 deleterious(0.01) benign(0.247) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF196,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix MODERATE 1 SNV PASS CAC . . 3386443 CYP2A6 . GRCh38 chr19 40843881 40843881 + Nonsense_Mutation SNP G G T rs145014075 7316-873 BS_NCF4MJ9S G G c.1400C>A p.Ser467Ter p.S467* ENST00000301141 9/9 89 76 13 45 44 1 CYP2A6,stop_gained,p.Ser467Ter,ENST00000301141,NM_000762.5;AC008537.3,downstream_gene_variant,,ENST00000623128,;CYP2A6,non_coding_transcript_exon_variant,,ENST00000599960,;AC008537.1,intron_variant,,ENST00000601627,;CYP2A6,downstream_gene_variant,,ENST00000596719,;CYP2A6,downstream_gene_variant,,ENST00000600495,;,regulatory_region_variant,,ENSR00000109597,; T ENSG00000255974 ENST00000301141 Transcript stop_gained 1421/1764 1400/1485 467/494 S/* tCa/tAa rs145014075 1 -1 CYP2A6 HGNC HGNC:2610 protein_coding YES CCDS12568.1 ENSP00000301141 P11509 UPI0000157752 NM_000762.5 9/9 Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF293,Superfamily_domains:SSF48264 0.04019 0.02395 HIGH 1 SNV 1 1 PASS TGA . . 0.01604 0.02688 0.01249 0.03611 0.006504 0.01923 0.02247 0.01226 40843881 RALGAPA2 . GRCh38 chr20 20653593 20653593 + Splice_Region DEL A A - rs1464853963 7316-873 BS_NCF4MJ9S A A c.271-6del ENST00000202677 77 66 5 56 51 0 RALGAPA2,splice_region_variant,,ENST00000202677,NM_020343.3; - ENSG00000188559 ENST00000202677 Transcript splice_region_variant,intron_variant rs1464853963 1 -1 RALGAPA2 HGNC HGNC:16207 protein_coding YES CCDS46584.1 ENSP00000202677 Q2PPJ7 UPI000040F987 NM_020343.3 3/39 LOW 1 deletion 5 PASS TTAA . . 20653592 CXCL13 . GRCh38 chr4 77607805 77607805 + Missense_Mutation SNP G G A rs367546065 7316-3 BS_J9M165VZ G G c.167G>A p.Arg56His p.R56H ENST00000286758 3/5 71 42 26 38 37 0 CXCL13,missense_variant,p.Arg56His,ENST00000286758,NM_006419.2;CXCL13,non_coding_transcript_exon_variant,,ENST00000506590,; A ENSG00000156234 ENST00000286758 Transcript missense_variant 245/1203 167/330 56/109 R/H cGt/cAt rs367546065 1 1 CXCL13 HGNC HGNC:10639 protein_coding YES CCDS3582.1 ENSP00000286758 O43927 Q53X90 UPI0000000CC9 NM_006419.2 deleterious(0.01) probably_damaging(0.938) 3/5 Gene3D:2.40.50.40,PDB-ENSP_mappings:4zai.A,PDB-ENSP_mappings:5cba.E,PDB-ENSP_mappings:5cba.F,PDB-ENSP_mappings:5cbe.E,PDB-ENSP_mappings:5cbe.F,Pfam_domain:PF00048,Prints_domain:PR00436,Prints_domain:PR00437,PROSITE_patterns:PS00471,hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF27,SMART_domains:SM00199,Superfamily_domains:SSF54117,cd00273 0.000227 MODERATE 1 SNV 1 PASS CGT . . 4.877e-05 0.0001961 2.978e-05 0.0001015 5.799e-05 4.482e-05 3.25e-05 77607805 MUC21 . GRCh38 chr6 30987052 30987052 + Missense_Mutation SNP C C A rs9262333 7316-3 BS_J9M165VZ C C c.877C>A p.Pro293Thr p.P293T ENST00000376296 2/3 89 74 14 36 36 0 MUC21,missense_variant,p.Pro293Thr,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,; A ENSG00000204544 ENST00000376296 Transcript missense_variant 1118/3651 877/1701 293/566 P/T Ccc/Acc rs9262333,COSM3784503 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 tolerated(1) benign(0) 2/3 mobidb-lite,hmmpanther:PTHR39408,hmmpanther:PTHR39408,Pfam_domain:PF05647 0,1 MODERATE 1 SNV 1 0,1 PASS ACC . . 0.0006036 0.0003447 0.001117 0.00172 0.0002817 0.0009623 0.0004751 0.001245 0.0002404 30987052 AC012400.1 . GRCh38 chr8 84163656 84163656 + Splice_Region SNP C C T rs868563303 7316-3 BS_J9M165VZ C C n.177-3G>A ENST00000518452 58 45 8 31 26 0 AC012400.1,splice_region_variant,,ENST00000518452,;TPM3P3,downstream_gene_variant,,ENST00000521343,; T ENSG00000253362 ENST00000518452 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs868563303 1 -1 AC012400.1 Clone_based_ensembl_gene unprocessed_pseudogene YES 3/3 LOW 1 SNV PASS TCT . . 84163656 MUC5AC . GRCh38 chr11 1187182 1187182 + Missense_Mutation SNP C C A rs1312330802 7316-3 BS_J9M165VZ C C c.9037C>A p.Pro3013Thr p.P3013T ENST00000621226 31/49 95 80 10 30 25 0 MUC5AC,missense_variant,p.Pro3013Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; A ENSG00000215182 ENST00000621226 Transcript missense_variant 9084/17448 9037/16965 3013/5654 P/T Ccc/Acc rs1312330802 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated_low_confidence(0.73) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ACC . . 1187182 AHNAK2 . GRCh38 chr14 104948942 104948942 + Missense_Mutation SNP T T C rs201127689 7316-3 BS_J9M165VZ T T c.6509A>G p.Lys2170Arg p.K2170R ENST00000333244 7/7 30 25 5 21 21 0 AHNAK2,missense_variant,p.Lys2170Arg,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; C ENSG00000185567 ENST00000333244 Transcript missense_variant 6629/18254 6509/17388 2170/5795 K/R aAg/aGg rs201127689,COSM1235604 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 deleterious(0.03) probably_damaging(0.995) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.1262 0.0439 0.1398 0.0446 0.2744 0.1595 benign 0,1 MODERATE 1 SNV 5 0,1 PASS CTT . . 0.09513 0.04055 0.05917 0.2362 0.005514 0.04177 0.1221 0.1381 0.1241 104948942 TENM1 . GRCh38 chrX 124520792 124520792 + Splice_Region DEL A A - rs112813437 7316-3 BS_J9M165VZ A A c.3034-8del ENST00000422452 44 26 10 25 19 0 TENM1,splice_region_variant,,ENST00000371130,NM_014253.3;TENM1,splice_region_variant,,ENST00000422452,NM_001163278.1,NM_001163279.1; - ENSG00000009694 ENST00000422452 Transcript splice_region_variant,intron_variant rs112813437 1 -1 TENM1 HGNC HGNC:8117 protein_coding YES CCDS55488.1 ENSP00000403954 Q9UKZ4 UPI0000211B6A NM_001163278.1,NM_001163279.1 17/31 LOW 1 deletion 1 1 PASS ATAA . . 0.2019 0.1147 0.2357 0.1685 0.2617 0.1373 0.2208 0.2232 0.1658 124520791 PCDHA6 . GRCh38 chr5 140830250 140830250 + Missense_Mutation SNP C C T 7316-892 BS_NCF4MJ9S C C c.2159C>T p.Ala720Val p.A720V ENST00000529310 1/4 67 56 11 31 30 1 PCDHA6,missense_variant,p.Ala720Val,ENST00000529310,NM_018909.3;PCDHA6,missense_variant,p.Ala720Val,ENST00000378126,NM_031848.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA4,intron_variant,,ENST00000512229,;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA5,intron_variant,,ENST00000529619,;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,upstream_gene_variant,,ENST00000356878,NM_031852.1;PCDHA7,upstream_gene_variant,,ENST00000525929,NM_018910.2;PCDHA5,downstream_gene_variant,,ENST00000614258,NM_031501.1;,regulatory_region_variant,,ENSR00000317554,; T ENSG00000081842 ENST00000529310 Transcript missense_variant 2273/5374 2159/2853 720/950 A/V gCg/gTg COSM5939423,COSM5939422 1 1 PCDHA6 HGNC HGNC:8672 protein_coding YES CCDS47281.1 ENSP00000433378 Q9UN73 UPI00001273CE NM_018909.3 tolerated_low_confidence(0.16) benign(0.035) 1/4 Low_complexity_(Seg):seg,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF147 1,1 MODERATE 1 SNV 1 1,1 PASS GCG . . 140830250 SVIL . GRCh38 chr10 29490918 29490918 + Missense_Mutation SNP A A C rs199726033 7316-892 BS_NCF4MJ9S A A c.4121T>G p.Leu1374Arg p.L1374R ENST00000355867 22/38 70 58 10 39 38 0 SVIL,missense_variant,p.Leu1342Arg,ENST00000375398,;SVIL,missense_variant,p.Leu1374Arg,ENST00000355867,NM_001323599.1,NM_021738.2;SVIL,missense_variant,p.Leu948Arg,ENST00000375400,NM_001323600.1,NM_003174.3;SVIL,missense_variant,p.Leu300Arg,ENST00000632315,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL-AS1,downstream_gene_variant,,ENST00000413405,;SVIL,upstream_gene_variant,,ENST00000482607,;SVIL,downstream_gene_variant,,ENST00000491872,; C ENSG00000197321 ENST00000355867 Transcript missense_variant 4874/7586 4121/6645 1374/2214 L/R cTc/cGc rs199726033,COSM146919 1 -1 SVIL HGNC HGNC:11480 protein_coding YES CCDS7164.1 ENSP00000348128 O95425 UPI0000366678 NM_001323599.1,NM_021738.2 deleterious(0) possibly_damaging(0.506) 22/38 hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF45 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.1071 0.01054 0.06654 0.2243 0.01734 0.1831 0.1105 0.1149 0.1928 29490918 QRICH2 . GRCh38 chr17 76292217 76292217 + Missense_Mutation SNP A A T rs376981175 7316-892 BS_NCF4MJ9S A A c.2012T>A p.Val671Asp p.V671D ENST00000262765 4/19 81 64 11 48 47 0 QRICH2,missense_variant,p.Val837Asp,ENST00000636395,;QRICH2,missense_variant,p.Val671Asp,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; T ENSG00000129646 ENST00000262765 Transcript missense_variant 2192/5357 2012/4992 671/1663 V/D gTt/gAt rs376981175,COSM5038063 1 -1 QRICH2 HGNC HGNC:25326 protein_coding YES CCDS32741.1 ENSP00000262765 Q9H0J4 UPI000006FECD NM_032134.2 tolerated(0.72) benign(0) 4/19 0.0009079 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 1.416e-05 3.918e-05 0.0001653 76292217 IFFO2 . GRCh38 chr1 18919710 18919710 + Missense_Mutation SNP C C T novel 7316-198 BS_370TKZ48 C C c.790G>A p.Glu264Lys p.E264K ENST00000455833 3/9 57 29 27 41 40 0 IFFO2,missense_variant,p.Glu264Lys,ENST00000455833,NM_001136265.1;IFFO2,missense_variant,p.Glu53Lys,ENST00000416166,;AL080251.1,missense_variant,p.Glu43Lys,ENST00000494072,; T ENSG00000169991 ENST00000455833 Transcript missense_variant 1144/6188 790/1554 264/517 E/K Gag/Aag 1 -1 IFFO2 HGNC HGNC:27006 protein_coding YES CCDS44076.1 ENSP00000387941 Q5TF58 UPI0000EE7032 NM_001136265.1 deleterious(0) probably_damaging(0.986) 3/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14516,Gene3D:1.20.1170.10,SMART_domains:SM01391 MODERATE 1 SNV 5 PASS TCG . . 18919710 AHDC1 . GRCh38 chr1 27550213 27550219 + Frame_Shift_Del DEL GCGGTGA GCGGTGA - novel 7316-198 BS_370TKZ48 GCGGTGA GCGGTGA c.1897_1903del p.Ser633ProfsTer97 p.S633Pfs*97 ENST00000374011 6/7 81 39 40 42 41 0 AHDC1,frameshift_variant,p.Ser633ProfsTer97,ENST00000374011,NM_001029882.3;AHDC1,frameshift_variant,p.Ser633ProfsTer97,ENST00000247087,;AHDC1,frameshift_variant,p.Ser633ProfsTer97,ENST00000644989,;AHDC1,frameshift_variant,p.Ser633ProfsTer97,ENST00000642245,;AHDC1,frameshift_variant,p.Ser633ProfsTer97,ENST00000642416,;AHDC1,downstream_gene_variant,,ENST00000480033,;AHDC1,downstream_gene_variant,,ENST00000487743,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000643219,;AHDC1,downstream_gene_variant,,ENST00000643308,;AHDC1,downstream_gene_variant,,ENST00000644119,;AHDC1,downstream_gene_variant,,ENST00000644550,;AHDC1,downstream_gene_variant,,ENST00000644833,;AHDC1,downstream_gene_variant,,ENST00000645669,; - ENSG00000126705 ENST00000374011 Transcript frameshift_variant 2866-2872/6438 1897-1903/4812 633-635/1603 SPP/X TCACCGCcc/cc 1 -1 AHDC1 HGNC HGNC:25230 protein_coding YES CCDS30652.1 ENSP00000363123 Q5TGY3 UPI0000418EA1 NM_001029882.3 6/7 Pfam_domain:PF15735,hmmpanther:PTHR15617 HIGH 1 deletion 5 1 PASS GGGCGGTGAG . . 27550212 TCHH . GRCh38 chr1 152110089 152110089 + Missense_Mutation SNP A A C rs759860007 7316-198 BS_370TKZ48 A A c.3128T>G p.Leu1043Arg p.L1043R ENST00000614923 3/3 59 39 13 24 21 0 TCHH,missense_variant,p.Leu1043Arg,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Leu1043Arg,ENST00000368804,; C ENSG00000159450 ENST00000614923 Transcript missense_variant 3223/6995 3128/5832 1043/1943 L/R cTc/cGc rs759860007,COSM528874 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.19) benign(0) 3/3 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS GAG . . 0.0003743 0.0004696 0.0004333 0.0004382 0.001089 9.142e-05 0.0002911 0.0006388 0.0004073 152110089 IGKV6-21 . GRCh38 chr2 89159966 89159966 + Missense_Mutation SNP G G A rs1334099681 7316-198 BS_370TKZ48 G G c.127C>T p.Arg43Trp p.R43W ENST00000390256 2/2 68 56 11 29 29 0 IGKV6-21,missense_variant,p.Arg43Trp,ENST00000390256,; A ENSG00000211611 ENST00000390256 Transcript missense_variant 191/406 127/342 43/114 R/W Cgg/Tgg rs1334099681 1 -1 IGKV6-21 HGNC HGNC:5836 IG_V_gene YES ENSP00000374791 A0A0C4DH24 UPI0000113B3E deleterious(0.04) benign(0.014) 2/2 MODERATE 1 SNV PASS CGG . . 1.402e-05 3.123e-05 89159966 POTEJ . GRCh38 chr2 130657402 130657402 + Missense_Mutation SNP A A T rs4850168 7316-198 BS_370TKZ48 A A c.2642A>T p.Tyr881Phe p.Y881F ENST00000409602 15/15 76 56 18 41 39 1 POTEJ,missense_variant,p.Tyr881Phe,ENST00000409602,NM_001277083.1; T ENSG00000222038 ENST00000409602 Transcript missense_variant 2694/3383 2642/3117 881/1038 Y/F tAt/tTt rs4850168,COSM4594563,COSM4594562 1 1 POTEJ HGNC HGNC:37094 protein_coding YES CCDS59432.1 ENSP00000387176 P0CG39 UPI0000DD7A4B NM_001277083.1 deleterious_low_confidence(0.04) benign(0.157) 15/15 Gene3D:3.90.640.10,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067 0.0477 0.0477 0.0331 0.0446 0.0755 0.0327 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TAT . . 0.0007002 0.0008208 0.0009647 0.000211 0.001625 4.511e-05 0.0006815 0.001123 0.0004575 130657402 DEPDC1B . GRCh38 chr5 60644829 60644829 + Missense_Mutation SNP C C T rs112568063 7316-198 BS_370TKZ48 C C c.625G>A p.Val209Ile p.V209I ENST00000265036 5/11 103 64 39 28 26 0 DEPDC1B,missense_variant,p.Val209Ile,ENST00000265036,NM_018369.2;DEPDC1B,missense_variant,p.Val209Ile,ENST00000453022,NM_001145208.1;DEPDC1B,3_prime_UTR_variant,,ENST00000512078,;DEPDC1B,downstream_gene_variant,,ENST00000505017,;DEPDC1B,downstream_gene_variant,,ENST00000512452,; T ENSG00000035499 ENST00000265036 Transcript missense_variant 693/2499 625/1590 209/529 V/I Gtc/Atc rs112568063,COSM328169 1 -1 DEPDC1B HGNC HGNC:24902 protein_coding YES CCDS3977.1 ENSP00000265036 Q8WUY9 UPI000020C7D4 NM_018369.2 tolerated(0.26) benign(0) 5/11 PROSITE_profiles:PS50238,cd04405,hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF11 0.0026 0.0098 0.009986 0.0002326 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 0.000772 0.01019 0.0003609 0.0009174 7.192e-05 0.0007342 3.281e-05 60644829 HR . GRCh38 chr8 22125349 22125349 + Missense_Mutation SNP C C T rs200452606 7316-198 BS_370TKZ48 C C c.1712G>A p.Arg571Gln p.R571Q ENST00000381418 5/19 84 45 38 47 45 0 HR,missense_variant,p.Arg571Gln,ENST00000381418,NM_005144.4;HR,missense_variant,p.Arg571Gln,ENST00000312841,NM_018411.4;HR,downstream_gene_variant,,ENST00000519619,;HR,upstream_gene_variant,,ENST00000517699,;HR,upstream_gene_variant,,ENST00000518461,;HR,downstream_gene_variant,,ENST00000522759,; T ENSG00000168453 ENST00000381418 Transcript missense_variant 3193/6336 1712/3570 571/1189 R/Q cGg/cAg rs200452606 1 -1 HR HGNC HGNC:5172 protein_coding YES CCDS6022.1 ENSP00000370826 O43593 UPI000013EB0B NM_005144.4 deleterious(0.02) probably_damaging(0.992) 5/19 hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF4,Low_complexity_(Seg):seg 0.0002 0.001 MODERATE 1 SNV 1 1 PASS CCG . . 4.533e-05 0.000101 22125349 PABPC1 . GRCh38 chr8 100704372 100704372 + Missense_Mutation SNP C C T novel 7316-198 BS_370TKZ48 C C c.1837G>A p.Val613Ile p.V613I ENST00000318607 14/15 65 39 26 47 47 0 PABPC1,missense_variant,p.Val613Ile,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Val568Ile,ENST00000519004,;PABPC1,missense_variant,p.Val581Ile,ENST00000522387,;PABPC1,missense_variant,p.Val499Ile,ENST00000610907,;PABPC1,missense_variant,p.Val146Ile,ENST00000520868,;PABPC1,missense_variant,p.Val160Ile,ENST00000522658,;PABPC1,missense_variant,p.Val19Ile,ENST00000518293,;PABPC1,missense_variant,p.Val113Ile,ENST00000517990,;PABPC1,downstream_gene_variant,,ENST00000517403,;MIR7705,upstream_gene_variant,,ENST00000614758,;PABPC1,downstream_gene_variant,,ENST00000519596,;PABPC1,3_prime_UTR_variant,,ENST00000523636,;PABPC1,downstream_gene_variant,,ENST00000518716,;PABPC1,downstream_gene_variant,,ENST00000519622,;PABPC1,downstream_gene_variant,,ENST00000519848,; T ENSG00000070756 ENST00000318607 Transcript missense_variant 2966/3485 1837/1911 613/636 V/I Gta/Ata 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 deleterious(0.04) benign(0.437) 14/15 Gene3D:1.10.1900.10,Pfam_domain:PF00658,PROSITE_profiles:PS51309,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,SMART_domains:SM00517,Superfamily_domains:SSF63570,TIGRFAM_domain:TIGR01628 MODERATE 1 SNV 1 1 PASS ACA . . 100704372 ZNF483 . GRCh38 chr9 111530876 111530876 + Splice_Region SNP T T C novel 7316-198 BS_370TKZ48 T T c.414T>C p.Asp138= p.D138= ENST00000309235 3/6 33 23 10 14 14 0 ZNF483,splice_region_variant,p.Asp138=,ENST00000309235,NM_133464.3;ZNF483,splice_region_variant,p.Asp138=,ENST00000358151,NM_001007169.3;ZNF483,splice_region_variant,p.Asp138=,ENST00000355824,;ZNF483,downstream_gene_variant,,ENST00000374374,; C ENSG00000173258 ENST00000309235 Transcript splice_region_variant,synonymous_variant 572/3655 414/2235 138/744 D gaT/gaC 1 1 ZNF483 HGNC HGNC:23384 protein_coding YES CCDS35106.1 ENSP00000311679 Q8TF39 UPI00001C1EBF NM_133464.3 3/6 hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF425,SMART_domains:SM00431,mobidb-lite LOW 1 SNV 1 PASS ATC . . 111530876 AGAP12P . GRCh38 chr10 48031373 48031373 + Splice_Region SNP T T C rs782112615 7316-198 BS_370TKZ48 T T n.224+3A>G ENST00000585227 31 24 6 48 47 1 AGAP12P,splice_region_variant,,ENST00000603888,;AGAP12P,splice_region_variant,,ENST00000585227,; C ENSG00000265018 ENST00000585227 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs782112615 1 -1 AGAP12P HGNC HGNC:23661 transcribed_unprocessed_pseudogene YES 1/7 LOW 1 SNV PASS TTA . . 0.1198 0.0753 0.06525 0.1631 0.02149 0.1479 0.1562 0.1322 0.1117 48031373 ARMH3 . GRCh38 chr10 101957735 101957736 + Splice_Region INS - - A rs765215747 7316-198 BS_370TKZ48 - - c.1496-4_1496-3insT ENST00000370033 54 45 6 29 29 0 ARMH3,splice_region_variant,,ENST00000370033,NM_024541.2; A ENSG00000120029 ENST00000370033 Transcript splice_region_variant,intron_variant rs765215747 1 -1 ARMH3 HGNC HGNC:25788 protein_coding YES CCDS41563.1 ENSP00000359050 Q5T2E6 UPI000047005B NM_024541.2 20/25 LOW 1 insertion 5 PASS TTT . . 0.0006435 0.0006335 0.0007869 0.0001801 0.001517 0.0009618 0.0005402 0.0005397 101957735 MUC5AC . GRCh38 chr11 1185272 1185272 + Missense_Mutation SNP G G C rs1248838766 7316-198 BS_370TKZ48 G G c.7127G>C p.Arg2376Pro p.R2376P ENST00000621226 31/49 92 75 10 29 29 0 MUC5AC,missense_variant,p.Arg2376Pro,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 7174/17448 7127/16965 2376/5654 R/P cGt/cCt rs1248838766 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.15) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CGT . . 1185272 MMP3 . GRCh38 chr11 102842429 102842429 + Splice_Site SNP A A T rs782642043 7316-198 BS_370TKZ48 A A c.499+2T>A p.X167_splice ENST00000299855 69 36 7 31 23 0 MMP3,splice_donor_variant,,ENST00000299855,NM_002422.4;MMP3,upstream_gene_variant,,ENST00000434103,;MMP3,splice_donor_variant,,ENST00000524478,; T ENSG00000149968 ENST00000299855 Transcript splice_donor_variant rs782642043,COSM1638722 1 -1 MMP3 HGNC HGNC:7173 protein_coding YES CCDS8323.1 ENSP00000299855 P08254 UPI00000422BF NM_002422.4 3/9 0,1 HIGH 1 SNV 1 0,1 1 PASS TAC . . 0.07977 0.09084 0.03974 0.1448 0.03806 0.1769 0.07179 0.08809 0.08567 102842429 GMFB . GRCh38 chr14 54478163 54478163 + Splice_Region SNP T T A rs1270822354 7316-198 BS_370TKZ48 T T c.358-4A>T ENST00000358056 91 83 6 38 37 0 GMFB,splice_region_variant,,ENST00000358056,NM_004124.2;GMFB,splice_region_variant,,ENST00000553333,;GMFB,splice_region_variant,,ENST00000616146,;GMFB,splice_region_variant,,ENST00000628554,;GMFB,3_prime_UTR_variant,,ENST00000554908,;GMFB,downstream_gene_variant,,ENST00000553566,;GMFB,splice_region_variant,,ENST00000554163,;GMFB,splice_region_variant,,ENST00000554247,;GMFB,downstream_gene_variant,,ENST00000553952,;GMFB,downstream_gene_variant,,ENST00000554682,; A ENSG00000197045 ENST00000358056 Transcript splice_region_variant,intron_variant rs1270822354 1 -1 GMFB HGNC HGNC:4373 protein_coding YES CCDS9718.1 ENSP00000350757 P60983 UPI0000161C06 NM_004124.2 6/6 LOW 1 SNV 1 PASS TTA . . 0.003117 0.006112 0.005569 0.003214 0.005272 0.001248 0.003033 0.001305 0.002312 54478163 NPIPB15 . GRCh38 chr16 74381517 74381519 + In_Frame_Del DEL TCA TCA - novel 7316-198 BS_370TKZ48 TCA TCA c.71_73del p.Ile24del p.I24del ENST00000429990 2/7 68 44 18 44 44 0 NPIPB15,inframe_deletion,p.Ile24del,ENST00000429990,NM_001306094.1;NPIPB15,non_coding_transcript_exon_variant,,ENST00000613038,; - ENSG00000196436 ENST00000429990 Transcript inframe_deletion,splice_region_variant 164-166/1428 68-70/1332 23-24/443 VI/V gTCAtc/gtc 1 1 NPIPB15 HGNC HGNC:34409 protein_coding YES CCDS76897.1 ENSP00000411140 A6NHN6 UPI000198C783 NM_001306094.1 2/7 Pfam_domain:PF06409,hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF4 MODERATE 1 deletion 5 3 PASS GGTCAT . . 74381516 KRTAP4-16 . GRCh38 chr17 41101746 41101746 + Missense_Mutation SNP T T G rs1215386394 7316-198 BS_370TKZ48 T T c.464A>C p.His155Pro p.H155P ENST00000440582 1/1 62 38 14 29 28 1 KRTAP4-16,missense_variant,p.His155Pro,ENST00000440582,;KRTAP4-8,upstream_gene_variant,,ENST00000318329,;KRTAP4-8,upstream_gene_variant,,ENST00000333822,NM_031960.2;KRTAP4-9,upstream_gene_variant,,ENST00000391415,NM_001146041.1;KRTAP4-9,upstream_gene_variant,,ENST00000617453,; G ENSG00000241241 ENST00000440582 Transcript missense_variant 464/708 464/708 155/235 H/P cAc/cCc rs1215386394 1 -1 KRTAP4-16 HGNC HGNC:18921 protein_coding YES ENSP00000411198 G5E9R7 UPI0000E59F68 deleterious(0) unknown(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF37 MODERATE 1 SNV PASS GTG . . 2.656e-05 9.984e-05 3.454e-05 4.383e-05 41101746 COL1A1 . GRCh38 chr17 50187485 50187485 + Missense_Mutation SNP C C T rs41316713 7316-198 BS_370TKZ48 C C c.3422G>A p.Arg1141Gln p.R1141Q ENST00000225964 46/51 91 47 43 35 34 1 COL1A1,missense_variant,p.Arg1141Gln,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; T ENSG00000108821 ENST00000225964 Transcript missense_variant,splice_region_variant 3541/6727 3422/4395 1141/1464 R/Q cGa/cAa rs41316713 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 deleterious(0.01) probably_damaging(0.979) 46/51 Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF569,mobidb-lite,Low_complexity_(Seg):seg 0.0002 0.001 24273577 MODERATE 1 SNV 1 1 PASS TCG . . 1.22e-05 1.793e-05 3.25e-05 50187485 TEPSIN . GRCh38 chr17 81229257 81229257 + Missense_Mutation SNP T T G rs761569820 7316-198 BS_370TKZ48 T T c.1249A>C p.Thr417Pro p.T417P ENST00000300714 12/12 51 36 9 32 29 1 TEPSIN,missense_variant,p.Thr417Pro,ENST00000300714,NM_144679.2;TEPSIN,missense_variant,p.Thr485Pro,ENST00000637944,;TEPSIN,downstream_gene_variant,,ENST00000571094,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000575922,;AC027601.1,upstream_gene_variant,,ENST00000569559,;TEPSIN,3_prime_UTR_variant,,ENST00000571115,;TEPSIN,non_coding_transcript_exon_variant,,ENST00000576090,;TEPSIN,non_coding_transcript_exon_variant,,ENST00000573295,;TEPSIN,downstream_gene_variant,,ENST00000570854,;TEPSIN,downstream_gene_variant,,ENST00000574944,; G ENSG00000167302 ENST00000300714 Transcript missense_variant 1307/2287 1249/1578 417/525 T/P Acc/Ccc rs761569820,COSM4667057,COSM4667056 1 -1 TEPSIN HGNC HGNC:26458 protein_coding YES CCDS11779.1 ENSP00000300714 Q96N21 UPI0000071221 NM_144679.2 tolerated(0.35) benign(0) 12/12 hmmpanther:PTHR21514,hmmpanther:PTHR21514:SF0,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GTG . . 0.009185 0.0113 0.01248 0.008624 0.01142 0.003887 0.008088 0.01163 0.01269 81229257 MIR4527HG . GRCh38 chr18 47577064 47577064 + Splice_Site SNP A A T rs1461891445 7316-198 BS_370TKZ48 A A n.352-2A>T ENST00000600127 78 55 5 23 21 0 MIR4527HG,splice_acceptor_variant,,ENST00000600127,;MIR4527HG,intron_variant,,ENST00000586905,;MIR4527HG,downstream_gene_variant,,ENST00000598649,; T ENSG00000267761 ENST00000600127 Transcript splice_acceptor_variant,non_coding_transcript_variant rs1461891445 1 1 MIR4527HG HGNC HGNC:31724 lincRNA YES 1/3 HIGH 1 SNV 5 PASS TAG . . 47577064 CYP4F2 . GRCh38 chr19 15878886 15878886 + Missense_Mutation SNP G G C rs3952537 7316-198 BS_370TKZ48 G G c.1448C>G p.Ala483Gly p.A483G ENST00000221700 13/13 81 68 10 55 54 0 CYP4F2,missense_variant,p.Ala483Gly,ENST00000221700,NM_001082.4;CYP4F2,missense_variant,p.Ala483Gly,ENST00000011989,;CYP4F2,3_prime_UTR_variant,,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,; C ENSG00000186115 ENST00000221700 Transcript missense_variant 1544/2407 1448/1563 483/520 A/G gCg/gGg rs3952537,COSM225400 1 -1 CYP4F2 HGNC HGNC:2645 protein_coding YES CCDS12336.1 ENSP00000221700 P78329 UPI0000052BE6 NM_001082.4 deleterious(0.02) benign(0.122) 13/13 hmmpanther:PTHR24291:SF112,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGC . . 0.01051 0.0229 0.004629 0.0278 0.008696 0.02648 0.009563 0.006944 0.001296 15878886 RHPN2 . GRCh38 chr19 32999660 32999660 + Missense_Mutation SNP T T C rs74582927 7316-198 BS_370TKZ48 T T c.1151A>G p.Gln384Arg p.Q384R ENST00000254260 10/15 77 67 10 48 48 0 RHPN2,missense_variant,p.Gln384Arg,ENST00000254260,NM_033103.4;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,non_coding_transcript_exon_variant,,ENST00000544458,;RHPN2,upstream_gene_variant,,ENST00000585641,; C ENSG00000131941 ENST00000254260 Transcript missense_variant 1187/3500 1151/2061 384/686 Q/R cAg/cGg rs74582927,COSM1480906 1 -1 RHPN2 HGNC HGNC:19974 protein_coding YES CCDS12427.1 ENSP00000254260 Q8IUC4 UPI00000747A3 NM_033103.4 deleterious(0.03) probably_damaging(0.982) 10/15 Gene3D:1.25.40.280,Pfam_domain:PF03097,PROSITE_profiles:PS51180,hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF5,SMART_domains:SM01041,cd09249 0.3003 0.2176 0.2401 0.2883 0.32 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 0.2666 0.201 0.1833 0.3284 0.1173 0.3941 0.2996 0.2572 0.2383 32999660 PSG6 . GRCh38 chr19 42903725 42903726 + Splice_Region INS - - A rs748129002 7316-198 BS_370TKZ48 - - c.1241-5dup ENST00000292125 35 22 8 10 8 0 PSG6,splice_region_variant,,ENST00000292125,NM_002782.4;PSG6,intron_variant,,ENST00000187910,NM_001031850.3;PSG6,intron_variant,,ENST00000402603,;PSG6,downstream_gene_variant,,ENST00000594375,;PSG6,intron_variant,,ENST00000599753,;PSG6,downstream_gene_variant,,ENST00000595062,; A ENSG00000170848 ENST00000292125 Transcript splice_region_variant,intron_variant rs748129002 1 -1 PSG6 HGNC HGNC:9523 protein_coding YES CCDS12613.1 ENSP00000292125 Q00889 UPI00001327A1 NM_002782.4 5/5 LOW 1 insertion 1 PASS ACA . . 0.09906 0.1162 0.09928 0.08134 0.08396 0.1003 0.1188 0.09091 0.05031 42903725 CCDC157 . GRCh38 chr22 30376255 30376255 + Splice_Region SNP G G T rs200862381 7316-198 BS_370TKZ48 G G c.1858-4G>T ENST00000405659 57 46 5 38 37 0 CCDC157,splice_region_variant,,ENST00000338306,NM_001017437.3;CCDC157,splice_region_variant,,ENST00000405659,NM_001318334.1;RNF215,downstream_gene_variant,,ENST00000215798,;RNF215,downstream_gene_variant,,ENST00000382363,NM_001017981.1;RNF215,downstream_gene_variant,,ENST00000421022,;RNF215,upstream_gene_variant,,ENST00000619645,;CCDC157,splice_region_variant,,ENST00000475975,;CCDC157,splice_region_variant,,ENST00000482413,;RNF215,intron_variant,,ENST00000332468,;RNF215,downstream_gene_variant,,ENST00000463319,;RNF215,downstream_gene_variant,,ENST00000630264,;RNF215,downstream_gene_variant,,ENST00000631046,; T ENSG00000187860 ENST00000405659 Transcript splice_region_variant,intron_variant rs200862381,COSM4298584,COSM4298583 1 1 CCDC157 HGNC HGNC:33854 protein_coding YES CCDS33632.2 ENSP00000385357 Q569K6 UPI0001610F7B NM_001318334.1 10/11 0,1,1 LOW 1 SNV 1 0,1,1 PASS TGT . . 0.01647 0.006289 0.02035 0.0303 0.006872 0.06732 0.008401 0.01204 0.02068 30376255 MKL1 . GRCh38 chr22 40419185 40419185 + Missense_Mutation SNP C C T 7316-198 BS_370TKZ48 C C c.1358G>A p.Gly453Glu p.G453E ENST00000618196 10/13 69 29 38 44 43 0 MKL1,missense_variant,p.Gly418Glu,ENST00000396617,NM_001282662.1;MKL1,missense_variant,p.Gly418Glu,ENST00000355630,NM_020831.4;MKL1,missense_variant,p.Gly368Glu,ENST00000402042,NM_001282661.1;MKL1,missense_variant,p.Gly418Glu,ENST00000407029,NM_001282660.1;MKL1,missense_variant,p.Gly419Glu,ENST00000614754,;MKL1,missense_variant,p.Gly369Glu,ENST00000620651,;MKL1,missense_variant,p.Gly453Glu,ENST00000618196,NM_001318139.1;MKL1,intron_variant,,ENST00000618417,;AL022238.3,downstream_gene_variant,,ENST00000609279,;MKL1,upstream_gene_variant,,ENST00000477468,; T ENSG00000196588 ENST00000618196 Transcript missense_variant 1358/2901 1358/2901 453/966 G/E gGg/gAg COSM6294908 1 -1 MKL1 HGNC HGNC:14334 protein_coding YES CCDS82720.1 ENSP00000479510 W0Z7M9 UPI000387CD38 NM_001318139.1 tolerated(0.14) probably_damaging(0.913) 10/13 hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF6,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 1 PASS CCC . . 40419185 BRD1 . GRCh38 chr22 49794276 49794276 + Missense_Mutation SNP G G A 7316-198 BS_370TKZ48 G G c.2117C>T p.Pro706Leu p.P706L ENST00000457780 6/12 88 39 47 39 39 0 BRD1,missense_variant,p.Pro706Leu,ENST00000457780,;BRD1,missense_variant,p.Pro706Leu,ENST00000216267,;BRD1,missense_variant,p.Pro706Leu,ENST00000404760,NM_001304808.1,NM_001349941.1;BRD1,missense_variant,p.Pro706Leu,ENST00000404034,NM_001304809.1;BRD1,missense_variant,p.Pro338Leu,ENST00000438393,; A ENSG00000100425 ENST00000457780 Transcript missense_variant 2604/4997 2117/3570 706/1189 P/L cCc/cTc COSM5899791,COSM5899790 1 -1 BRD1 HGNC HGNC:1102 protein_coding YES CCDS77686.1 ENSP00000410042 O95696 A0A024R4V5 UPI0000367106 deleterious(0.02) probably_damaging(0.999) 6/12 hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF17 1,1 MODERATE 1 SNV 5 1,1 PASS GGG . . 49794276 STS . GRCh38 chrX 7275947 7275947 + Splice_Region DEL G G - rs1381919533 7316-198 BS_370TKZ48 G G c.822-4del ENST00000217961 39 26 8 14 12 0 STS,splice_region_variant,,ENST00000217961,NM_001320754.1,NM_001320753.1,NM_000351.5,NM_001320752.1,NM_001320751.1,NM_001320750.1; - ENSG00000101846 ENST00000217961 Transcript splice_region_variant,intron_variant rs1381919533 1 1 STS HGNC HGNC:11425 protein_coding YES CCDS14127.1 ENSP00000217961 P08842 UPI0000136153 NM_001320754.1,NM_001320753.1,NM_000351.5,NM_001320752.1,NM_001320751.1,NM_001320750.1 5/9 LOW 1 deletion 1 1 PASS TTGC . . 0.0004447 0.0009916 0.0009058 0.00111 0.0002231 0.0007321 7.649e-05 7275946 GCNA . GRCh38 chrX 71603976 71603976 + Missense_Mutation SNP T T A rs770704116 7316-198 BS_370TKZ48 T T c.699T>A p.Asp233Glu p.D233E ENST00000373695 7/12 42 34 7 24 22 0 GCNA,missense_variant,p.Asp233Glu,ENST00000373695,;GCNA,missense_variant,p.Asp233Glu,ENST00000373696,NM_052957.4; A ENSG00000147174 ENST00000373695 Transcript missense_variant 1236/3213 699/2076 233/691 D/E gaT/gaA rs770704116,COSM6280925 1 1 GCNA HGNC HGNC:15805 protein_coding YES CCDS35326.1 ENSP00000362799 Q96QF7 UPI0000072023 tolerated_low_confidence(0.77) benign(0) 7/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23099 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 71603976 SH3BP5 . GRCh38 chr3 15332326 15332328 + In_Frame_Del DEL TCC TCC - rs760711039 7316-889 BS_XJWNW9E8 TCC TCC c.81_83del p.Glu29del p.E29del ENST00000383791 1/9 79 67 5 41 36 0 SH3BP5,inframe_deletion,p.Glu29del,ENST00000383791,NM_004844.4;SH3BP5,intron_variant,,ENST00000408919,NM_001018009.3;SH3BP5,intron_variant,,ENST00000426925,;SH3BP5,intron_variant,,ENST00000465894,;SH3BP5,upstream_gene_variant,,ENST00000459627,;SH3BP5,inframe_deletion,p.Glu29del,ENST00000412806,;SH3BP5,inframe_deletion,p.Glu29del,ENST00000450625,;,regulatory_region_variant,,ENSR00000149049,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; - ENSG00000131370 ENST00000383791 Transcript inframe_deletion 302-304/2822 81-83/1368 27-28/455 EE/E gaGGAa/gaa rs760711039,COSM1723292 1 -1 SH3BP5 HGNC HGNC:10827 protein_coding YES CCDS2625.2 ENSP00000373301 O60239 A0A024R2G6 UPI00004C3DB7 NM_004844.4 1/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19423,hmmpanther:PTHR19423:SF7,mobidb-lite,Low_complexity_(Seg):seg 0.01353 0.01662 0,1 MODERATE 1 deletion 1 0,1 PASS CTTCCT . . 0.008471 0.01675 0.007466 0.003967 0.01846 0.006925 0.008891 0.007871 0.004343 15332325 FOXF2 . GRCh38 chr6 1390743 1390745 + In_Frame_Del DEL CAC CAC - rs762436025 7316-889 BS_XJWNW9E8 CAC CAC c.814_816del p.His272del p.H272del ENST00000645481 1/2 59 51 5 38 32 0 FOXF2,inframe_deletion,p.His272del,ENST00000645481,;FOXF2,inframe_deletion,p.His272del,ENST00000259806,NM_001452.1;MIR6720,upstream_gene_variant,,ENST00000611664,; - ENSG00000137273 ENST00000645481 Transcript inframe_deletion 1168-1170/2447 796-798/1335 266/444 H/- CAC/- rs762436025,COSM5061444 1 1 FOXF2 HGNC HGNC:3810 protein_coding YES CCDS4472.1 ENSP00000496415 UPI000012ADD6 1/2 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF125,mobidb-lite,Low_complexity_(Seg):seg 0.009358 0.0163 0,1 MODERATE 1 deletion 18 0,1 PASS CTCACC . . 0.004375 0.004504 0.003615 0.004021 0.007282 0.003693 0.004608 0.003804 1390742 TUBB2A . GRCh38 chr6 3154648 3154648 + Missense_Mutation SNP C C T rs76334433 7316-889 BS_XJWNW9E8 C C c.553G>A p.Ala185Thr p.A185T ENST00000333628 4/4 43 35 7 32 32 0 TUBB2A,missense_variant,p.Ala185Thr,ENST00000333628,NM_001069.2,NM_001310315.1;BPHL,downstream_gene_variant,,ENST00000380375,;BPHL,downstream_gene_variant,,ENST00000380379,NM_004332.3;BPHL,downstream_gene_variant,,ENST00000423798,;BPHL,downstream_gene_variant,,ENST00000434640,NM_001302777.1;AL031963.1,upstream_gene_variant,,ENST00000447644,;TUBB2A,non_coding_transcript_exon_variant,,ENST00000489942,;BPHL,downstream_gene_variant,,ENST00000464040,;BPHL,downstream_gene_variant,,ENST00000424847,;BPHL,downstream_gene_variant,,ENST00000430655,;BPHL,downstream_gene_variant,,ENST00000433912,;BPHL,downstream_gene_variant,,ENST00000488487,;BPHL,downstream_gene_variant,,ENST00000490918,; T ENSG00000137267 ENST00000333628 Transcript missense_variant 616/1595 553/1338 185/445 A/T Gcc/Acc rs76334433,COSM451206 1 -1 TUBB2A HGNC HGNC:12412 protein_coding YES CCDS4484.1 ENSP00000369703 Q13885 UPI000000DC98 NM_001069.2,NM_001310315.1 deleterious_low_confidence(0.04) benign(0.094) 4/4 cd02187,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF256,Gene3D:3.40.50.1440,Pfam_domain:PF00091,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161 benign 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 0.01769 0.1133 0.008119 0.003165 0.06382 0.01931 0.001895 0.009193 0.03192 3154648 MUC17 . GRCh38 chr7 101036923 101036923 + Missense_Mutation SNP A A G rs199683839 7316-889 BS_XJWNW9E8 A A c.5507A>G p.Asn1836Ser p.N1836S ENST00000306151 3/13 66 53 10 50 50 0 MUC17,missense_variant,p.Asn1836Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn1836Ser,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 5571/14247 5507/13482 1836/4493 N/S aAc/aGc rs199683839 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.018) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 101036923 MUC17 . GRCh38 chr7 101037073 101037073 + Missense_Mutation SNP C C G rs201300745 7316-889 BS_XJWNW9E8 C C c.5657C>G p.Thr1886Ser p.T1886S ENST00000306151 3/13 34 25 8 43 43 0 MUC17,missense_variant,p.Thr1886Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr1886Ser,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 5721/14247 5657/13482 1886/4493 T/S aCc/aGc rs201300745,COSM3082476 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.19) benign(0.444) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS ACC . . 101037073 AP005902.1 . GRCh38 chr8 39867565 39867567 + Splice_Site DEL TCC TCC - rs747893072 7316-889 BS_XJWNW9E8 TCC TCC n.59-4_59-2del ENST00000521358 69 57 5 51 48 0 AP005902.1,splice_acceptor_variant,,ENST00000521358,; - ENSG00000253233 ENST00000521358 Transcript splice_acceptor_variant,intron_variant,non_coding_transcript_variant rs747893072 1 -1 AP005902.1 Clone_based_ensembl_gene processed_pseudogene YES 1/1 HIGH 1 deletion PASS ATTCCT . . 39867564 LUZP2 . GRCh38 chr11 24976592 24976592 + Missense_Mutation SNP C C T rs572470818 7316-889 BS_XJWNW9E8 C C c.524C>T p.Ala175Val p.A175V ENST00000336930 8/12 75 54 11 45 42 0 LUZP2,missense_variant,p.Ala89Val,ENST00000533227,NM_001252008.1;LUZP2,missense_variant,p.Ala89Val,ENST00000620308,;LUZP2,missense_variant,p.Ala175Val,ENST00000336930,NM_001252010.1,NM_001009909.3;LUZP2,missense_variant,p.Ala133Val,ENST00000529015,; T ENSG00000187398 ENST00000336930 Transcript missense_variant,splice_region_variant 590/3553 524/1041 175/346 A/V gCg/gTg rs572470818,COSM71517,COSM6705209 1 1 LUZP2 HGNC HGNC:23206 protein_coding YES CCDS31446.1 ENSP00000336817 Q86TE4 UPI000019816C NM_001252010.1,NM_001009909.3 deleterious(0) probably_damaging(0.996) 8/12 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22414,Gene3D:1.20.1170.10 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GCG . . 0.0001091 0.0001838 0.0001451 0.0001502 24976592 DGKZ . GRCh38 chr11 46347717 46347717 + Missense_Mutation SNP G G A rs114974750 7316-889 BS_XJWNW9E8 G G c.58G>A p.Ala20Thr p.A20T ENST00000456247 1/31 83 61 20 26 26 0 DGKZ,missense_variant,p.Ala20Thr,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala20Thr,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,;,TF_binding_site_variant,,MA0062.2,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 146/3482 58/2787 20/928 A/T Gcc/Acc rs114974750,COSM4145731 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 deleterious_low_confidence(0.03) probably_damaging(0.982) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS CGC . . 0.4767 0.35 0.4856 0.4749 0.4896 0.4884 0.484 0.4752 0.4585 46347717 ALPK3 . GRCh38 chr15 84856706 84856706 + Missense_Mutation SNP T T G novel 7316-889 BS_XJWNW9E8 T T c.2574T>G p.Ser858Arg p.S858R ENST00000258888 6/14 63 49 5 37 37 0 ALPK3,missense_variant,p.Ser858Arg,ENST00000258888,NM_020778.4;RF00402,upstream_gene_variant,,ENST00000364121,; G ENSG00000136383 ENST00000258888 Transcript missense_variant 2741/10917 2574/5724 858/1907 S/R agT/agG 1 1 ALPK3 HGNC HGNC:17574 protein_coding YES CCDS10333.1 ENSP00000258888 Q96L96 UPI000013D013 NM_020778.4 deleterious_low_confidence(0.04) benign(0.001) 6/14 mobidb-lite,hmmpanther:PTHR45152 MODERATE 1 SNV 1 PASS GTG . . 84856706 ZNF469 . GRCh38 chr16 88429434 88429434 + Missense_Mutation SNP A A C rs868058045 7316-889 BS_XJWNW9E8 A A c.1964A>C p.His655Pro p.H655P ENST00000437464 1/2 48 30 10 23 22 0 ZNF469,missense_variant,p.His655Pro,ENST00000565624,;ZNF469,missense_variant,p.His655Pro,ENST00000437464,NM_001127464.2; C ENSG00000225614 ENST00000437464 Transcript missense_variant 1964/13203 1964/11778 655/3925 H/P cAc/cCc rs868058045 1 1 ZNF469 HGNC HGNC:23216 protein_coding YES CCDS45544.1 ENSP00000402343 Q96JG9 UPI0004E4C937 NM_001127464.2 tolerated(0.18) benign(0.076) 1/2 hmmpanther:PTHR21465,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS CAC . . 1.09e-05 2.8e-05 88429434 KCNJ18 . GRCh38 chr17 21703201 21703201 + Missense_Mutation SNP G G A rs1202650179 7316-889 BS_XJWNW9E8 G G c.415G>A p.Glu139Lys p.E139K ENST00000567955 3/3 81 64 14 42 42 0 KCNJ18,missense_variant,p.Glu139Lys,ENST00000567955,NM_001194958.2; A ENSG00000260458 ENST00000567955 Transcript missense_variant 785/2196 415/1302 139/433 E/K Gag/Aag rs1202650179 1 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540 UPI0002064ECF NM_001194958.2 deleterious(0.03) benign(0.331) 3/3 Gene3D:1.10.287.70,Pfam_domain:PF01007,Prints_domain:PR01320,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CGA . . 21703201 CHERP . GRCh38 chr19 16529770 16529772 + In_Frame_Del DEL TGC TGC - rs762824932 7316-889 BS_XJWNW9E8 TGC TGC c.1005_1007del p.Gln341del p.Q341del ENST00000546361 8/17 74 60 6 42 39 0 CHERP,inframe_deletion,p.Gln341del,ENST00000546361,NM_006387.5;CHERP,inframe_deletion,p.Gln352del,ENST00000198939,;CHERP,upstream_gene_variant,,ENST00000544299,;AC008764.1,intron_variant,,ENST00000409035,;CHERP,downstream_gene_variant,,ENST00000546538,; - ENSG00000085872 ENST00000546361 Transcript inframe_deletion 1157-1159/4173 1005-1007/2751 335-336/916 QQ/Q caGCAa/caa rs762824932,TMP_ESP_19_16640581_16640595,COSM1724493 1 -1 CHERP HGNC HGNC:16930 protein_coding YES CCDS42518.1 ENSP00000439856 Q8IWX8 UPI00001AE5BE NM_006387.5 8/17 hmmpanther:PTHR12323,mobidb-lite,Low_complexity_(Seg):seg 0.08109 0.08074 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS GTTGCT . . 0.001173 0.0009403 0.0008352 0.0002198 0.0005213 0.003552 0.001107 0.001246 0.0009776 16529769 MYT1 . GRCh38 chr20 64207964 64207964 + Missense_Mutation SNP T T G novel 7316-889 BS_XJWNW9E8 T T c.768T>G p.Ser256Arg p.S256R ENST00000328439 7/23 48 32 10 40 35 1 MYT1,missense_variant,p.Ser256Arg,ENST00000536311,;MYT1,missense_variant,p.Ser256Arg,ENST00000328439,NM_004535.2;MYT1,intron_variant,,ENST00000360149,;MYT1,intron_variant,,ENST00000622439,; G ENSG00000196132 ENST00000328439 Transcript missense_variant 1132/5535 768/3366 256/1121 S/R agT/agG 1 1 MYT1 HGNC HGNC:7622 protein_coding YES CCDS13558.1 ENSP00000327465 Q01538 UPI000012FBFA NM_004535.2 tolerated_low_confidence(0.51) benign(0.007) 7/23 mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10816:SF10,hmmpanther:PTHR10816,Gene3D:3.40.50.300 MODERATE 1 SNV 1 1 PASS GTC . . 64207964 CSF3R . GRCh38 chr1 36469717 36469717 + Missense_Mutation SNP G G A rs781634406 7316-3299 BS_95P46VE0 G G c.1409C>T p.Ala470Val p.A470V ENST00000373103 11/17 75 57 17 34 34 0 CSF3R,missense_variant,p.Ala470Val,ENST00000373103,NM_156039.3;CSF3R,missense_variant,p.Ala470Val,ENST00000373106,NM_000760.3;CSF3R,missense_variant,p.Ala470Val,ENST00000373104,NM_172313.2;CSF3R,missense_variant,p.Ala470Val,ENST00000361632,;CSF3R,missense_variant,p.Ala470Val,ENST00000331941,;CSF3R,missense_variant,p.Ala56Val,ENST00000464465,;CSF3R,non_coding_transcript_exon_variant,,ENST00000487540,;CSF3R,non_coding_transcript_exon_variant,,ENST00000480825,;CSF3R,non_coding_transcript_exon_variant,,ENST00000464365,;CSF3R,upstream_gene_variant,,ENST00000466138,;CSF3R,downstream_gene_variant,,ENST00000469380,;CSF3R,upstream_gene_variant,,ENST00000484762,; A ENSG00000119535 ENST00000373103 Transcript missense_variant 1957/3454 1409/2592 470/863 A/V gCg/gTg rs781634406,COSM6957249,COSM6957248 1 -1 CSF3R HGNC HGNC:2439 protein_coding YES CCDS414.1 ENSP00000362195 Q99062 UPI000002AA5A NM_156039.3 tolerated(0.11) benign(0) 11/17 Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF103,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CGC . . 4.874e-05 0.000268 8.952e-06 6.497e-05 36469717 CITED4 . GRCh38 chr1 40861815 40861815 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.313A>C p.Asn105His p.N105H ENST00000372638 1/1 57 42 11 15 15 0 CITED4,missense_variant,p.Asn105His,ENST00000372638,NM_133467.2;AC119677.1,upstream_gene_variant,,ENST00000414199,;,regulatory_region_variant,,ENSR00000005267,; G ENSG00000179862 ENST00000372638 Transcript missense_variant 552/1316 313/555 105/184 N/H Aac/Cac 1 -1 CITED4 HGNC HGNC:18696 protein_coding YES CCDS458.1 ENSP00000361721 Q96RK1 UPI000004241F NM_133467.2 tolerated(0.13) benign(0.202) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR17045:SF5,hmmpanther:PTHR17045 MODERATE SNV PASS TTG . . 40861815 ZNF697 . GRCh38 chr1 119623139 119623139 + Missense_Mutation SNP C C G novel 7316-3299 BS_95P46VE0 C C c.1204G>C p.Val402Leu p.V402L ENST00000421812 3/3 88 69 10 22 18 0 ZNF697,missense_variant,p.Val402Leu,ENST00000421812,NM_001080470.1; G ENSG00000143067 ENST00000421812 Transcript missense_variant 1324/5041 1204/1638 402/545 V/L Gtg/Ctg 1 -1 ZNF697 HGNC HGNC:32034 protein_coding YES CCDS44202.1 ENSP00000396857 Q5TEC3 UPI0000DD78D7 NM_001080470.1 deleterious(0.03) possibly_damaging(0.498) 3/3 Gene3D:2.20.28.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44153,hmmpanther:PTHR44153:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS ACG . . 119623139 TDRKH . GRCh38 chr1 151776109 151776109 + Missense_Mutation SNP G G A novel 7316-3299 BS_95P46VE0 G G c.1204C>T p.Leu402Phe p.L402F ENST00000368822 8/14 65 44 21 32 30 0 TDRKH,missense_variant,p.Leu402Phe,ENST00000368822,;TDRKH,missense_variant,p.Leu402Phe,ENST00000368824,NM_001083965.1;TDRKH,missense_variant,p.Leu402Phe,ENST00000458431,NM_001083963.1;TDRKH,missense_variant,p.Leu398Phe,ENST00000368823,;TDRKH,missense_variant,p.Leu357Phe,ENST00000368825,NM_001083964.1;TDRKH,missense_variant,p.Leu402Phe,ENST00000368827,NM_006862.3;TDRKH,missense_variant,p.Leu402Phe,ENST00000440583,;OAZ3,downstream_gene_variant,,ENST00000321531,NM_001134939.1;OAZ3,downstream_gene_variant,,ENST00000400999,NM_016178.2;OAZ3,downstream_gene_variant,,ENST00000453029,NM_001301371.1;OAZ3,downstream_gene_variant,,ENST00000479764,;TDRKH,downstream_gene_variant,,ENST00000526378,;OAZ3,downstream_gene_variant,,ENST00000582415,;OAZ3,downstream_gene_variant,,ENST00000627780,;OAZ3,downstream_gene_variant,,ENST00000635322,;OAZ3,downstream_gene_variant,,ENST00000635374,;OAZ3,downstream_gene_variant,,ENST00000639906,;TDRKH,downstream_gene_variant,,ENST00000484421,;TDRKH,3_prime_UTR_variant,,ENST00000525790,;TDRKH,3_prime_UTR_variant,,ENST00000526413,;TDRKH,downstream_gene_variant,,ENST00000486986,;TDRKH,downstream_gene_variant,,ENST00000494725,;TDRKH,downstream_gene_variant,,ENST00000530202,; A ENSG00000182134 ENST00000368822 Transcript missense_variant 1838/3093 1204/1686 402/561 L/F Ctc/Ttc 1 -1 TDRKH HGNC HGNC:11713 protein_coding YES CCDS41394.1 ENSP00000357812 Q9Y2W6 UPI0000204267 deleterious(0) benign(0.298) 8/14 PROSITE_profiles:PS50304,cd04508,hmmpanther:PTHR22948:SF22,hmmpanther:PTHR22948,Gene3D:2.40.50.90,Pfam_domain:PF00567,SMART_domains:SM00333,Superfamily_domains:SSF63748 MODERATE 1 SNV 5 PASS AGG . . 151776109 TCHH . GRCh38 chr1 152109647 152109648 + In_Frame_Ins INS - - CTC rs1433438769 7316-3299 BS_95P46VE0 - - c.3569_3570insGAG p.Arg1192dup p.R1192dup ENST00000614923 3/3 93 59 11 36 34 0 TCHH,inframe_insertion,p.Arg1192dup,ENST00000614923,NM_007113.3;TCHH,inframe_insertion,p.Arg1192dup,ENST00000368804,; CTC ENSG00000159450 ENST00000614923 Transcript inframe_insertion 3664-3665/6995 3569-3570/5832 1190/1943 K/KR aaa/aaGAGa rs1433438769,TMP_ESP_1_152082124_152082123 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 3/3 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,hmmpanther:PTHR34855 0.003597 0.0009975 MODERATE 1 insertion 5 1 PASS TTT . . 4.064e-06 8.954e-06 152109647 FLG2 . GRCh38 chr1 152351932 152351932 + Missense_Mutation SNP C C T rs1403594309 7316-3299 BS_95P46VE0 C C c.5854G>A p.Gly1952Arg p.G1952R ENST00000388718 3/3 76 63 6 43 42 1 FLG2,missense_variant,p.Gly1952Arg,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 5927/9124 5854/7176 1952/2391 G/R Gga/Aga rs1403594309,COSM6285886 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.2) benign(0.006) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS CCC . . 152351932 IVL . GRCh38 chr1 152910793 152910793 + Missense_Mutation SNP A A C 7316-3299 BS_95P46VE0 A A c.996A>C p.Gln332His p.Q332H ENST00000368764 2/2 49 33 8 36 31 0 IVL,missense_variant,p.Gln332His,ENST00000368764,NM_005547.2;,regulatory_region_variant,,ENSR00000254492,; C ENSG00000163207 ENST00000368764 Transcript missense_variant 1060/2153 996/1758 332/585 Q/H caA/caC COSM896293,COSM4389868 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 deleterious(0) probably_damaging(0.975) 2/2 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00904,mobidb-lite,Low_complexity_(Seg):seg 1,1 MODERATE 1 SNV 2 1,1 PASS AAC . . 152910793 MUC1 . GRCh38 chr1 155192008 155192008 + Missense_Mutation SNP T T C rs1331247460 7316-3299 BS_95P46VE0 T T c.361A>G p.Thr121Ala p.T121A ENST00000612778 2/8 99 71 7 22 22 0 MUC1,missense_variant,p.Thr112Ala,ENST00000611571,;MUC1,missense_variant,p.Thr121Ala,ENST00000612778,NM_001204286.1;MUC1,missense_variant,p.Thr112Ala,ENST00000620103,NM_001204285.1;MUC1,missense_variant,p.Thr109Ala,ENST00000611577,;MUC1,intron_variant,,ENST00000337604,NM_001204287.1,NM_002456.5;MUC1,intron_variant,,ENST00000338684,NM_001204291.1,NM_001204289.1;MUC1,intron_variant,,ENST00000342482,;MUC1,intron_variant,,ENST00000343256,NM_001204296.1,NM_001044390.2;MUC1,intron_variant,,ENST00000368389,NM_001204297.1;MUC1,intron_variant,,ENST00000368390,NM_001018017.2;MUC1,intron_variant,,ENST00000368392,NM_001204288.1,NM_001018016.2;MUC1,intron_variant,,ENST00000368393,NM_001204293.1;MUC1,intron_variant,,ENST00000368396,NM_001044391.2,NM_001044392.2;MUC1,intron_variant,,ENST00000368398,NM_001204294.1;MUC1,intron_variant,,ENST00000438413,NM_001204290.1;MUC1,intron_variant,,ENST00000457295,;MUC1,intron_variant,,ENST00000462215,;MUC1,intron_variant,,ENST00000471283,NM_001044393.2;MUC1,intron_variant,,ENST00000610359,NM_001204292.1;MUC1,intron_variant,,ENST00000614519,;MUC1,intron_variant,,ENST00000615517,NM_001204295.1;THBS3,downstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,downstream_gene_variant,,ENST00000457183,NM_001252608.1;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000485118,;THBS3,downstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,downstream_gene_variant,,ENST00000541990,;MIR92B,upstream_gene_variant,,ENST00000607575,;AC234582.1,upstream_gene_variant,,ENST00000447623,;MUC1,downstream_gene_variant,,ENST00000466913,;MUC1,non_coding_transcript_exon_variant,,ENST00000620770,;MUC1,intron_variant,,ENST00000467134,;MUC1,intron_variant,,ENST00000498431,;MUC1,intron_variant,,ENST00000610468,;MUC1,upstream_gene_variant,,ENST00000468978,;THBS3,downstream_gene_variant,,ENST00000469769,;AL713999.1,upstream_gene_variant,,ENST00000473363,;THBS3,downstream_gene_variant,,ENST00000498500,;,regulatory_region_variant,,ENSR00000014040,; C ENSG00000185499 ENST00000612778 Transcript missense_variant 433/1836 361/1455 121/484 T/A Acc/Gcc rs1331247460 1 -1 MUC1 HGNC HGNC:7508 protein_coding YES CCDS72933.1 ENSP00000484824 A0A087X2A4 UPI000059C524 NM_001204286.1 tolerated(0.39) benign(0.006) 2/8 hmmpanther:PTHR10006,mobidb-lite MODERATE SNV 5 1 PASS GTG . . 155192008 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 74 58 16 32 31 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 METTL11B . GRCh38 chr1 170166571 170166571 + Missense_Mutation SNP G G A rs1309437371 7316-3299 BS_95P46VE0 G G c.400G>A p.Val134Ile p.V134I ENST00000439373 3/4 70 38 32 26 24 0 METTL11B,missense_variant,p.Val134Ile,ENST00000439373,NM_001136107.1;METTL11B,non_coding_transcript_exon_variant,,ENST00000367764,; A ENSG00000203740 ENST00000439373 Transcript missense_variant 507/992 400/852 134/283 V/I Gtc/Atc rs1309437371,COSM395798 1 1 METTL11B HGNC HGNC:31932 protein_coding YES CCDS44275.1 ENSP00000408058 Q5VVY1 UPI0000418EF1 NM_001136107.1 deleterious(0.02) probably_damaging(0.995) 3/4 Gene3D:3.40.50.150,PDB-ENSP_mappings:5ubb.A,Pfam_domain:PF05891,PIRSF_domain:PIRSF016958,hmmpanther:PTHR12753,hmmpanther:PTHR12753:SF2,Superfamily_domains:SSF53335,cd02440 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 1.305e-05 8.346e-05 170166571 IGFN1 . GRCh38 chr1 201210912 201210912 + Missense_Mutation SNP G G A rs879202807 7316-3299 BS_95P46VE0 G G c.6019G>A p.Gly2007Arg p.G2007R ENST00000335211 12/24 37 26 9 22 22 0 IGFN1,missense_variant,p.Gly2007Arg,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; A ENSG00000163395 ENST00000335211 Transcript missense_variant 6149/11810 6019/11127 2007/3708 G/R Gga/Aga rs879202807 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.14) benign(0.106) 12/24 mobidb-lite MODERATE 1 SNV 5 PASS GGG . . 7.563e-05 0.0003497 0.0003179 201210912 IGFN1 . GRCh38 chr1 201211573 201211573 + Missense_Mutation SNP G G A rs1212936908 7316-3299 BS_95P46VE0 G G c.6680G>A p.Gly2227Glu p.G2227E ENST00000335211 12/24 78 67 6 33 32 0 IGFN1,missense_variant,p.Gly2227Glu,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,; A ENSG00000163395 ENST00000335211 Transcript missense_variant 6810/11810 6680/11127 2227/3708 G/E gGg/gAg rs1212936908,COSM5956823 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.06) benign(0.015) 12/24 mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 2.199e-05 0.0001245 3.58e-05 201211573 SLC30A1 . GRCh38 chr1 211578611 211578611 + Translation_Start_Site SNP A A C novel 7316-3299 BS_95P46VE0 A A c.2T>G p.Met1? p.M1? ENST00000367001 1/2 97 82 14 43 41 1 SLC30A1,start_lost,p.Met1?,ENST00000367001,NM_021194.2;AC105275.2,downstream_gene_variant,,ENST00000567907,;,regulatory_region_variant,,ENSR00000019571,; C ENSG00000170385 ENST00000367001 Transcript start_lost 132/5474 2/1524 1/507 M/R aTg/aGg 1 -1 SLC30A1 HGNC HGNC:11012 protein_coding YES CCDS1499.1 ENSP00000355968 Q9Y6M5 UPI000013EBA0 NM_021194.2 deleterious(0) benign(0.206) 1/2 hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562 HIGH 1 SNV 1 PASS CAT . . 211578611 ALMS1 . GRCh38 chr2 73450786 73450786 + Missense_Mutation SNP G G T rs1445492577 7316-3299 BS_95P46VE0 G G c.4259G>T p.Gly1420Val p.G1420V ENST00000613296 8/23 62 55 6 35 34 0 ALMS1,missense_variant,p.Gly1420Val,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Gly1378Val,ENST00000484298,;ALMS1,missense_variant,p.Gly1420Val,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; T ENSG00000116127 ENST00000613296 Transcript missense_variant 4370/12925 4259/12507 1420/4168 G/V gGg/gTg rs1445492577 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 deleterious(0.03) benign(0.065) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS GGG . . 4.101e-06 9.015e-06 73450786 ALMS1 . GRCh38 chr2 73450795 73450795 + Missense_Mutation SNP C C T rs769983998 7316-3299 BS_95P46VE0 C C c.4268C>T p.Thr1423Ile p.T1423I ENST00000613296 8/23 60 52 5 34 32 0 ALMS1,missense_variant,p.Thr1423Ile,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Thr1381Ile,ENST00000484298,;ALMS1,missense_variant,p.Thr1423Ile,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; T ENSG00000116127 ENST00000613296 Transcript missense_variant 4379/12925 4268/12507 1423/4168 T/I aCt/aTt rs769983998 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 tolerated(0.08) benign(0.011) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS ACT . . 8.144e-06 2.985e-05 3.251e-05 73450795 P3H2 . GRCh38 chr3 190120430 190120430 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.302A>C p.Glu101Ala p.E101A ENST00000319332 1/15 52 44 6 29 28 0 P3H2,missense_variant,p.Glu101Ala,ENST00000319332,NM_018192.3;P3H2,intron_variant,,ENST00000426003,;P3H2,intron_variant,,ENST00000427335,NM_001134418.1;P3H2,upstream_gene_variant,,ENST00000444866,;P3H2-AS1,upstream_gene_variant,,ENST00000412203,;,regulatory_region_variant,,ENSR00000163739,; G ENSG00000090530 ENST00000319332 Transcript missense_variant 500/3509 302/2127 101/708 E/A gAg/gCg 1 -1 P3H2 HGNC HGNC:19317 protein_coding YES CCDS3294.1 ENSP00000316881 Q8IVL5 UPI000007460B NM_018192.3 tolerated(0.87) benign(0) 1/15 Gene3D:1.25.40.10,hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF1,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTC . . 190120430 HTT . GRCh38 chr4 3074977 3074977 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.152T>G p.Leu51Arg p.L51R ENST00000355072 1/67 90 68 17 34 32 0 HTT,missense_variant,p.Leu51Arg,ENST00000355072,NM_002111.7;HTT-AS,upstream_gene_variant,,ENST00000503893,;RF02135,downstream_gene_variant,,ENST00000621529,;,regulatory_region_variant,,ENSR00000165041,; G ENSG00000197386 ENST00000355072 Transcript missense_variant 297/13475 152/9429 51/3142 L/R cTt/cGt 1 1 HTT HGNC HGNC:4851 protein_coding YES CCDS43206.1 ENSP00000347184 P42858 UPI000013D567 NM_002111.7 tolerated_low_confidence(0.66) benign(0.018) 1/67 Gene3D:1.25.10.10,PDB-ENSP_mappings:3io4.A,PDB-ENSP_mappings:3io4.B,PDB-ENSP_mappings:3io4.C,PDB-ENSP_mappings:3io6.A,PDB-ENSP_mappings:3io6.B,PDB-ENSP_mappings:3io6.C,PDB-ENSP_mappings:3ior.A,PDB-ENSP_mappings:3ior.B,PDB-ENSP_mappings:3ior.C,PDB-ENSP_mappings:3iot.A,PDB-ENSP_mappings:3iot.B,PDB-ENSP_mappings:3iot.C,PDB-ENSP_mappings:3iou.A,PDB-ENSP_mappings:3iou.B,PDB-ENSP_mappings:3iou.C,PDB-ENSP_mappings:3iov.A,PDB-ENSP_mappings:3iov.B,PDB-ENSP_mappings:3iov.C,PDB-ENSP_mappings:3iow.A,PDB-ENSP_mappings:3iow.B,PDB-ENSP_mappings:3iow.C,PDB-ENSP_mappings:4fe8.A,PDB-ENSP_mappings:4fe8.B,PDB-ENSP_mappings:4fe8.C,PDB-ENSP_mappings:4feb.A,PDB-ENSP_mappings:4feb.B,PDB-ENSP_mappings:4feb.C,PDB-ENSP_mappings:4fec.A,PDB-ENSP_mappings:4fec.B,PDB-ENSP_mappings:4fec.C,PDB-ENSP_mappings:4fed.A,PDB-ENSP_mappings:4fed.B,PDB-ENSP_mappings:4fed.C,hmmpanther:PTHR10170,Superfamily_domains:SSF81995,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTT . . 3074977 C4orf50 . GRCh38 chr4 5989142 5989143 + Frame_Shift_Del DEL CT CT - rs143859826 7316-3299 BS_95P46VE0 CT CT c.2903_2904del p.Glu968GlyfsTer11 p.E968Gfs*11 ENST00000531445 6/12 73 53 9 38 27 0 C4orf50,frameshift_variant,p.Glu968GlyfsTer11,ENST00000531445,;C4orf50,5_prime_UTR_variant,,ENST00000324058,;C4orf50,frameshift_variant,p.Glu308GlyfsTer11,ENST00000639345,; - ENSG00000181215 ENST00000531445 Transcript frameshift_variant 2979-2980/6860 2903-2904/4527 968/1508 E/X gAG/g rs143859826,COSM4746563 1 -1 C4orf50 HGNC HGNC:33766 protein_coding YES ENSP00000437121 E9PNW5 UPI0007E52BBE 6/12 hmmpanther:PTHR36866,Gene3D:1.20.5.340 0,1 HIGH 1 deletion 5 0,1 PASS ACCTC . . 0.02343 0.008373 0.01501 0.02383 0.011 0.03072 0.02821 0.01575 0.02539 5989141 AASDH . GRCh38 chr4 56338715 56338715 + Missense_Mutation SNP C C T novel 7316-3299 BS_95P46VE0 C C c.2984G>A p.Gly995Asp p.G995D ENST00000205214 15/15 68 50 17 26 26 0 AASDH,stop_gained,p.Trp855Ter,ENST00000451613,NM_001286671.1;AASDH,missense_variant,p.Gly995Asp,ENST00000205214,NM_001323892.1,NM_001323890.1,NM_181806.3;AASDH,missense_variant,p.Gly842Asp,ENST00000602986,NM_001286670.1,NM_001286669.1,NM_001323893.1,NM_001323899.1;AASDH,missense_variant,p.Gly895Asp,ENST00000513376,NM_001286668.1;AASDH,3_prime_UTR_variant,,ENST00000514745,;AASDH,3_prime_UTR_variant,,ENST00000503808,; T ENSG00000157426 ENST00000205214 Transcript missense_variant 3165/3590 2984/3297 995/1098 G/D gGt/gAt 1 -1 AASDH HGNC HGNC:23993 protein_coding YES CCDS3504.1 ENSP00000205214 Q4L235 UPI000020B8EF NM_001323892.1,NM_001323890.1,NM_181806.3 deleterious(0) probably_damaging(0.992) 15/15 hmmpanther:PTHR44394,Pfam_domain:PF13570,Gene3D:2.140.10.10,SMART_domains:SM00564,Superfamily_domains:SSF50998 MODERATE 1 SNV 1 PASS ACC . . 56338715 MUC7 . GRCh38 chr4 70481316 70481316 + Missense_Mutation SNP C C T rs768221797 7316-3299 BS_95P46VE0 C C c.572C>T p.Ala191Val p.A191V ENST00000413702 4/4 50 38 8 39 39 0 MUC7,missense_variant,p.Ala191Val,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Ala191Val,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Ala191Val,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,; T ENSG00000171195 ENST00000413702 Transcript missense_variant 860/2540 572/1134 191/377 A/V gCc/gTc rs768221797,COSM420536 1 1 MUC7 HGNC HGNC:7518 protein_coding YES CCDS3541.1 ENSP00000407422 Q8TAX7 UPI000013E9DD NM_001145006.1 deleterious(0.01) benign(0.148) 4/4 hmmpanther:PTHR41683,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 4 0,1 1 PASS GCC . . 70481316 RAPGEF2 . GRCh38 chr4 159341807 159341807 + Missense_Mutation SNP C C G rs1328921281 7316-3299 BS_95P46VE0 C C c.2295C>G p.Asn765Lys p.N765K ENST00000264431 14/24 72 65 6 27 27 0 RAPGEF2,missense_variant,p.Asn920Lys,ENST00000644474,;RAPGEF2,missense_variant,p.Asn765Lys,ENST00000264431,NM_014247.2,NM_001351726.1;RAPGEF2,missense_variant,p.Asn808Lys,ENST00000644902,;RAPGEF2,upstream_gene_variant,,ENST00000502485,;RAPGEF2,upstream_gene_variant,,ENST00000510253,; G ENSG00000109756 ENST00000264431 Transcript missense_variant 2714/6949 2295/4500 765/1499 N/K aaC/aaG rs1328921281,COSM4720321 1 1 RAPGEF2 HGNC HGNC:16854 protein_coding YES CCDS43277.1 ENSP00000264431 Q9Y4G8 UPI0000033783 NM_014247.2,NM_001351726.1 deleterious(0) probably_damaging(1) 14/24 Gene3D:1.10.840.10,Pfam_domain:PF00617,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF217,SMART_domains:SM00147,Superfamily_domains:SSF48366,cd00155 0,1 MODERATE 1 SNV 1 0,1 PASS ACC . . 159341807 SAP30 . GRCh38 chr4 173371283 173371283 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.101A>C p.Asn34Thr p.N34T ENST00000296504 1/4 50 38 11 23 23 0 SAP30,missense_variant,p.Asn34Thr,ENST00000296504,NM_003864.3;AC097534.2,upstream_gene_variant,,ENST00000608794,;AC097534.2,upstream_gene_variant,,ENST00000608892,;AC097534.2,upstream_gene_variant,,ENST00000609153,;AC097534.2,upstream_gene_variant,,ENST00000609900,;SAP30,downstream_gene_variant,,ENST00000504618,;,regulatory_region_variant,,ENSR00000176229,; C ENSG00000164105 ENST00000296504 Transcript missense_variant 341/1108 101/663 34/220 N/T aAc/aCc 1 1 SAP30 HGNC HGNC:10532 protein_coding YES CCDS3817.1 ENSP00000296504 O75446 UPI000006F36D NM_003864.3 tolerated_low_confidence(0.28) benign(0.003) 1/4 Low_complexity_(Seg):seg,hmmpanther:PTHR13286,hmmpanther:PTHR13286:SF7 MODERATE 1 SNV 1 PASS AAC . . 173371283 MAP3K1 . GRCh38 chr5 56815667 56815667 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.94A>C p.Lys32Gln p.K32Q ENST00000399503 1/20 68 57 8 25 22 0 MAP3K1,missense_variant,p.Lys32Gln,ENST00000399503,NM_005921.1;,regulatory_region_variant,,ENSR00000180954,; C ENSG00000095015 ENST00000399503 Transcript missense_variant 94/7011 94/4539 32/1512 K/Q Aag/Cag 1 1 MAP3K1 HGNC HGNC:6848 protein_coding YES CCDS43318.1 ENSP00000382423 Q13233 UPI000015153B NM_005921.1 tolerated_low_confidence(0.65) benign(0) 1/20 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS CAA . . 56815667 CAST . GRCh38 chr5 96662494 96662494 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.72T>G p.His24Gln p.H24Q ENST00000395812 1/30 75 61 10 28 28 0 CAST,missense_variant,p.His24Gln,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Gln,ENST00000508830,;CAST,missense_variant,p.His24Gln,ENST00000510756,;CAST,missense_variant,p.His24Gln,ENST00000511097,;CAST,missense_variant,p.His24Gln,ENST00000421689,;CAST,missense_variant,p.His7Gln,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; G ENSG00000153113 ENST00000395812 Transcript missense_variant 258/4506 72/2253 24/750 H/Q caT/caG 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 tolerated_low_confidence(1) benign(0) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS ATG . . 96662494 SPOCK1 . GRCh38 chr5 137498437 137498437 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.122A>C p.Asn41Thr p.N41T ENST00000394945 2/11 77 67 7 29 27 0 SPOCK1,missense_variant,p.Asn41Thr,ENST00000394945,NM_004598.3;SPOCK1,missense_variant,p.Asn41Thr,ENST00000505690,;SPOCK1,intron_variant,,ENST00000510689,;SPOCK1,intron_variant,,ENST00000503916,;,regulatory_region_variant,,ENSR00000187397,; G ENSG00000152377 ENST00000394945 Transcript missense_variant 292/4846 122/1320 41/439 N/T aAt/aCt 1 -1 SPOCK1 HGNC HGNC:11251 protein_coding YES CCDS4191.1 ENSP00000378401 Q08629 UPI0000136F50 NM_004598.3 deleterious(0.03) benign(0.015) 2/11 MODERATE 1 SNV 1 PASS ATT . . 137498437 MDC1 . GRCh38 chr6 30704981 30704981 + Missense_Mutation SNP C C A rs748601560 7316-3299 BS_95P46VE0 C C c.4202G>T p.Gly1401Val p.G1401V ENST00000376406 10/15 42 26 13 37 33 0 MDC1,missense_variant,p.Gly1401Val,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4850/7576 4202/6270 1401/2089 G/V gGc/gTc rs748601560 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GCC . . 0.007351 0.01338 0.01103 0.003108 0.01969 0.0009711 0.005031 0.01102 0.009859 30704981 MDC1 . GRCh38 chr6 30705336 30705336 + Missense_Mutation SNP G G T rs79216909 7316-3299 BS_95P46VE0 G G c.3847C>A p.Pro1283Thr p.P1283T ENST00000376406 10/15 47 38 9 25 22 0 MDC1,missense_variant,p.Pro1283Thr,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 4495/7576 3847/6270 1283/2089 P/T Cca/Aca rs79216909,COSM1235523,COSM1235522 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(0.06) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 0.0457 0.0295 0.0231 0.0635 0.0239 0.0879 0.02678 0.02047 0,1,1 MODERATE SNV 5 0,1,1 PASS GGT . . 0.01363 0.004301 0.007925 0.02249 0.04023 0.005426 0.007551 0.01843 0.03559 30705336 MDC1 . GRCh38 chr6 30705362 30705362 + Missense_Mutation SNP T T A 7316-3299 BS_95P46VE0 T T c.3821A>T p.Asn1274Ile p.N1274I ENST00000376406 10/15 45 33 7 31 28 0 MDC1,missense_variant,p.Asn1274Ile,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4469/7576 3821/6270 1274/2089 N/I aAt/aTt COSM3830020,COSM3830019 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(0.3) benign(0.059) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 1,1 MODERATE SNV 5 1,1 PASS ATT . . 30705362 ARID1B . GRCh38 chr6 156779292 156779292 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.1363T>G p.Ser455Ala p.S455A ENST00000346085 1/20 50 35 7 21 19 0 ARID1B,missense_variant,p.Ser455Ala,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Ser455Ala,ENST00000636930,;ARID1B,missense_variant,p.Ser455Ala,ENST00000350026,NM_017519.2;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000604082,;MIR4466,downstream_gene_variant,,ENST00000606121,;AL355297.4,upstream_gene_variant,,ENST00000603191,;AL355297.2,downstream_gene_variant,,ENST00000604792,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; G ENSG00000049618 ENST00000346085 Transcript missense_variant 1919/10194 1363/6750 455/2249 S/A Tcc/Gcc 1 1 ARID1B HGNC HGNC:18040 protein_coding YES CCDS55072.1 ENSP00000344546 Q8NFD5 UPI000058E4B2 NM_020732.3 tolerated_low_confidence(0.34) benign(0) 1/20 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:3.40.50.1980 MODERATE 1 SNV 1 1 PASS GTC . . 156779292 MUC17 . GRCh38 chr7 101039670 101039670 + Missense_Mutation SNP C C T rs1457741628 7316-3299 BS_95P46VE0 C C c.8254C>T p.Pro2752Ser p.P2752S ENST00000306151 3/13 53 41 7 27 26 0 MUC17,missense_variant,p.Pro2752Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro2752Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 8318/14247 8254/13482 2752/4493 P/S Cca/Tca rs1457741628 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.15) possibly_damaging(0.857) 3/13 hmmpanther:PTHR37999 MODERATE 1 SNV 1 PASS TCC . . 101039670 MUC17 . GRCh38 chr7 101040101 101040101 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.8685T>G p.Asp2895Glu p.D2895E ENST00000306151 3/13 53 39 5 32 29 0 MUC17,missense_variant,p.Asp2895Glu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asp2895Glu,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 8749/14247 8685/13482 2895/4493 D/E gaT/gaG 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.11) possibly_damaging(0.739) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS ATA . . 101040101 MFHAS1 . GRCh38 chr8 8892733 8892733 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.326T>G p.Leu109Arg p.L109R ENST00000276282 1/3 69 38 10 30 29 0 MFHAS1,missense_variant,p.Leu109Arg,ENST00000276282,NM_004225.2;RNU6-682P,upstream_gene_variant,,ENST00000363843,;,regulatory_region_variant,,ENSR00000220826,; C ENSG00000147324 ENST00000276282 Transcript missense_variant 913/6414 326/3159 109/1052 L/R cTc/cGc 1 -1 MFHAS1 HGNC HGNC:16982 protein_coding YES CCDS34844.1 ENSP00000276282 Q9Y4C4 UPI000013DAB6 NM_004225.2 deleterious(0) probably_damaging(0.999) 1/3 Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR44393,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS GAG . . 8892733 SLC52A2 . GRCh38 chr8 144359409 144359409 + Missense_Mutation SNP A A C 7316-3299 BS_95P46VE0 A A c.116A>C p.Lys39Thr p.K39T ENST00000532887 2/5 71 60 7 20 20 0 SLC52A2,missense_variant,p.Lys39Thr,ENST00000532887,;SLC52A2,missense_variant,p.Lys39Thr,ENST00000643944,;SLC52A2,missense_variant,p.Lys39Thr,ENST00000329994,NM_024531.4;SLC52A2,missense_variant,p.Lys39Thr,ENST00000527078,;SLC52A2,missense_variant,p.Lys39Thr,ENST00000402965,NM_001253815.1;SLC52A2,missense_variant,p.Lys39Thr,ENST00000530047,NM_001253816.1;SLC52A2,missense_variant,p.Lys39Thr,ENST00000534725,;SLC52A2,missense_variant,p.Lys39Thr,ENST00000526752,;SLC52A2,missense_variant,p.Lys39Thr,ENST00000526338,;SLC52A2,missense_variant,p.Lys39Thr,ENST00000524541,;FBXL6,upstream_gene_variant,,ENST00000331890,NM_012162.3;FBXL6,upstream_gene_variant,,ENST00000455319,NM_024555.5;TMEM249,upstream_gene_variant,,ENST00000562477,NM_001252404.2;TMEM249,upstream_gene_variant,,ENST00000565365,NM_001252402.2,NM_001280561.1;SLC52A2,intron_variant,,ENST00000526891,;FBXL6,upstream_gene_variant,,ENST00000524909,;FBXL6,upstream_gene_variant,,ENST00000526524,;FBXL6,upstream_gene_variant,,ENST00000527000,;FBXL6,upstream_gene_variant,,ENST00000530687,;SLC52A2,downstream_gene_variant,,ENST00000532815,;SLC52A2,downstream_gene_variant,,ENST00000644270,;SLC52A2,missense_variant,p.Lys39Thr,ENST00000526779,;SLC52A2,non_coding_transcript_exon_variant,,ENST00000533662,;FBXL6,upstream_gene_variant,,ENST00000524492,;FBXL6,upstream_gene_variant,,ENST00000529279,;FBXL6,upstream_gene_variant,,ENST00000530142,;AC233992.2,upstream_gene_variant,,ENST00000531225,; C ENSG00000185803 ENST00000532887 Transcript missense_variant 699/2192 116/1338 39/445 K/T aAa/aCa COSM1313855 1 1 SLC52A2 HGNC HGNC:30224 protein_coding YES CCDS6423.1 ENSP00000436768 Q9HAB3 UPI000004470A tolerated(0.4) probably_damaging(0.994) 2/5 Low_complexity_(Seg):seg,hmmpanther:PTHR12929:SF17,hmmpanther:PTHR12929 1 MODERATE SNV 5 1 1 PASS AAA . . 144359409 LAMC3 . GRCh38 chr9 131026432 131026432 + Missense_Mutation SNP C A A rs2275137 7316-3299 BS_95P46VE0 C C c.521C>A p.Pro174His p.P174H ENST00000361069 2/28 50 4 45 29 21 7 LAMC3,missense_variant,p.Pro174His,ENST00000361069,NM_006059.3;LAMC3,non_coding_transcript_exon_variant,,ENST00000480883,; A ENSG00000050555 ENST00000361069 Transcript missense_variant 654/6133 521/4728 174/1575 P/H cCc/cAc rs2275137,COSM3763677 1 1 LAMC3 HGNC HGNC:6494 protein_coding YES CCDS6938.1 ENSP00000354360 Q9Y6N6 UPI000013D6D3 NM_006059.3 tolerated(0.1) benign(0.159) 2/28 Gene3D:2.60.120.260,Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,SMART_domains:SM00136 0.3203 0.6082 0.2997 0.1399 0.173 0.2832 0.5363 0.1548 benign,likely_benign 0,1 MODERATE 1 SNV 2 1,1 1 PASS CCC . . 0.2176 0.5693 0.2777 0.2065 0.1564 0.1088 0.1715 0.2165 0.2615 131026432 FAM69B . GRCh38 chr9 136723199 136723199 + Missense_Mutation SNP G G A rs368410147 7316-3299 BS_95P46VE0 G G c.721G>A p.Ala241Thr p.A241T ENST00000371692 5/5 33 15 18 23 22 0 FAM69B,missense_variant,p.Ala154Thr,ENST00000371691,;FAM69B,missense_variant,p.Ala241Thr,ENST00000371692,NM_152421.3;SNORA17B,downstream_gene_variant,,ENST00000362567,;SNORA17A,downstream_gene_variant,,ENST00000391185,;SNORA17B,downstream_gene_variant,,ENST00000626886,;RF00560,downstream_gene_variant,,ENST00000630429,;SNHG7,intron_variant,,ENST00000414282,;SNHG7,downstream_gene_variant,,ENST00000416970,;SNHG7,downstream_gene_variant,,ENST00000436596,;SNHG7,downstream_gene_variant,,ENST00000447221,;,regulatory_region_variant,,ENSR00000243071,; A ENSG00000165716 ENST00000371692 Transcript missense_variant 817/1668 721/1296 241/431 A/T Gcg/Acg rs368410147 1 1 FAM69B HGNC HGNC:28290 protein_coding YES CCDS7004.1 ENSP00000360757 Q5VUD6 UPI000013E4F3 NM_152421.3 deleterious(0.05) benign(0.005) 5/5 Pfam_domain:PF12260,hmmpanther:PTHR21093,hmmpanther:PTHR21093:SF3,Low_complexity_(Seg):seg 0.000227 MODERATE 1 SNV 1 PASS CGC . . 3.723e-05 0.000134 4.585e-05 3.684e-05 6.513e-05 136723199 CCDC183 . GRCh38 chr9 136806153 136806153 + Missense_Mutation SNP T C C rs2811795 7316-3299 BS_95P46VE0 T T c.1024T>C p.Trp342Arg p.W342R ENST00000338005 10/14 42 4 38 29 22 7 CCDC183,missense_variant,p.Trp342Arg,ENST00000338005,NM_001039374.4;RABL6,upstream_gene_variant,,ENST00000311502,NM_024718.4;RABL6,upstream_gene_variant,,ENST00000357466,;RABL6,upstream_gene_variant,,ENST00000371663,NM_001173988.1;RABL6,upstream_gene_variant,,ENST00000371671,NM_001173989.2;CCDC183-AS1,intron_variant,,ENST00000414656,;CCDC183,non_coding_transcript_exon_variant,,ENST00000371682,;CCDC183,non_coding_transcript_exon_variant,,ENST00000496839,;CCDC183,upstream_gene_variant,,ENST00000484858,;CCDC183,3_prime_UTR_variant,,ENST00000479371,;AL355987.4,non_coding_transcript_exon_variant,,ENST00000415992,;CCDC183,non_coding_transcript_exon_variant,,ENST00000430612,;CCDC183,non_coding_transcript_exon_variant,,ENST00000481601,;AL355987.2,intron_variant,,ENST00000471502,;AL355987.4,upstream_gene_variant,,ENST00000459985,;RABL6,upstream_gene_variant,,ENST00000484471,; C ENSG00000213213 ENST00000338005 Transcript missense_variant 1059/1671 1024/1605 342/534 W/R Tgg/Cgg rs2811795,COSM4163579 1 1 CCDC183 HGNC HGNC:28236 protein_coding YES CCDS43906.1 ENSP00000338013 Q5T5S1 UPI00015E02CD NM_001039374.4 tolerated(0.99) benign(0) 10/14 hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF16 0.9826 0.719 0.8591 0.8042 0.819 0.9556 0.8021 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.8181 0.9626 0.7735 0.8184 0.8749 0.8429 0.7979 0.8063 0.8274 136806153 UTF1 . GRCh38 chr10 133230834 133230834 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.546A>C p.Glu182Asp p.E182D ENST00000304477 1/2 71 53 12 31 30 0 UTF1,missense_variant,p.Glu182Asp,ENST00000304477,NM_003577.2;KNDC1,downstream_gene_variant,,ENST00000304613,NM_152643.6;,regulatory_region_variant,,ENSR00000035517,; C ENSG00000171794 ENST00000304477 Transcript missense_variant 561/1157 546/1026 182/341 E/D gaA/gaC 1 1 UTF1 HGNC HGNC:12634 protein_coding YES CCDS31318.1 ENSP00000305906 Q5T230 UPI000013E984 NM_003577.2 tolerated(0.37) benign(0) 1/2 hmmpanther:PTHR21654,hmmpanther:PTHR21654:SF16,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 133230834 CDHR5 . GRCh38 chr11 618946 618946 + Missense_Mutation SNP T T G 7316-3299 BS_95P46VE0 T T c.1613A>C p.Asp538Ala p.D538A ENST00000358353 14/16 67 55 5 34 34 0 CDHR5,missense_variant,p.Asp538Ala,ENST00000358353,;CDHR5,missense_variant,p.Asp538Ala,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; G ENSG00000099834 ENST00000358353 Transcript missense_variant 1936/3635 1613/2538 538/845 D/A gAc/gCc COSM2038159 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(0.71) benign(0.003) 14/16 mobidb-lite,hmmpanther:PTHR45160 1 MODERATE SNV 5 1 PASS GTC . . 618946 SCT . GRCh38 chr11 627143 627143 + Translation_Start_Site SNP T T G 7316-3299 BS_95P46VE0 T T c.1A>C p.Met1? p.M1? ENST00000176195 1/4 52 41 10 28 24 1 SCT,start_lost,p.Met1?,ENST00000176195,NM_021920.3;CDHR5,upstream_gene_variant,,ENST00000349570,NM_031264.3;CDHR5,upstream_gene_variant,,ENST00000358353,;CDHR5,upstream_gene_variant,,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,upstream_gene_variant,,ENST00000526077,;CDHR5,upstream_gene_variant,,ENST00000531088,;CDHR5,upstream_gene_variant,,ENST00000534311,;CDHR5,upstream_gene_variant,,ENST00000529337,;CDHR5,upstream_gene_variant,,ENST00000531177,;CDHR5,upstream_gene_variant,,ENST00000531899,; G ENSG00000070031 ENST00000176195 Transcript start_lost 1/366 1/366 1/121 M/L Atg/Ctg COSM6213971 1 -1 SCT HGNC HGNC:10607 protein_coding YES CCDS7709.1 ENSP00000176195 P09683 UPI00001357C7 NM_021920.3 deleterious_low_confidence(0) benign(0.035) 1/4 Cleavage_site_(Signalp):SignalP-noTM 1 HIGH 1 SNV 1 1 PASS ATG . . 627143 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 47 28 11 28 27 1 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 PNPLA2 . GRCh38 chr11 821685 821685 + Missense_Mutation SNP G G C novel 7316-3299 BS_95P46VE0 G G c.245G>C p.Gly82Ala p.G82A ENST00000336615 3/10 67 60 5 34 33 0 PNPLA2,missense_variant,p.Gly82Ala,ENST00000336615,NM_020376.3;CRACR2B,upstream_gene_variant,,ENST00000528315,;CRACR2B,upstream_gene_variant,,ENST00000533803,;AP006621.1,downstream_gene_variant,,ENST00000528982,;AP006621.1,downstream_gene_variant,,ENST00000532946,;PNPLA2,non_coding_transcript_exon_variant,,ENST00000525250,;PNPLA2,upstream_gene_variant,,ENST00000526083,;PNPLA2,upstream_gene_variant,,ENST00000529255,;PNPLA2,upstream_gene_variant,,ENST00000531923,;CRACR2B,upstream_gene_variant,,ENST00000534191,;PNPLA2,upstream_gene_variant,,ENST00000534561,; C ENSG00000177666 ENST00000336615 Transcript missense_variant 447/2428 245/1515 82/504 G/A gGc/gCc 1 1 PNPLA2 HGNC HGNC:30802 protein_coding YES CCDS7718.1 ENSP00000337701 Q96AD5 UPI000003731E NM_020376.3 deleterious(0.03) probably_damaging(1) 3/10 PROSITE_profiles:PS51635,cd07220,hmmpanther:PTHR12406:SF29,hmmpanther:PTHR12406,Gene3D:3.40.1090.10,Pfam_domain:PF01734,Superfamily_domains:SSF52151 MODERATE 1 SNV 1 1 PASS GGC . . 821685 MUC5AC . GRCh38 chr11 1191424 1191424 + Missense_Mutation SNP C C T rs1158446987 7316-3299 BS_95P46VE0 C C c.13279C>T p.Pro4427Ser p.P4427S ENST00000621226 31/49 30 12 8 38 38 0 MUC5AC,missense_variant,p.Pro4427Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; T ENSG00000215182 ENST00000621226 Transcript missense_variant 13326/17448 13279/16965 4427/5654 P/S Cct/Tct rs1158446987 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.4) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CCC . . 1191424 RCOR2 . GRCh38 chr11 63914176 63914176 + Splice_Region SNP G A A rs4980533 7316-3299 BS_95P46VE0 G G c.676-7C>T ENST00000301459 86 15 68 22 16 6 RCOR2,splice_region_variant,,ENST00000301459,NM_173587.3;MARK2,downstream_gene_variant,,ENST00000350490,NM_001163297.1;MARK2,downstream_gene_variant,,ENST00000361128,NM_001163296.1;MARK2,downstream_gene_variant,,ENST00000377810,;MARK2,downstream_gene_variant,,ENST00000402010,NM_001039469.2;MARK2,downstream_gene_variant,,ENST00000408948,;MARK2,downstream_gene_variant,,ENST00000425897,;MARK2,downstream_gene_variant,,ENST00000502399,;MARK2,downstream_gene_variant,,ENST00000508192,NM_004954.4;MARK2,downstream_gene_variant,,ENST00000509502,NM_017490.3;MARK2,downstream_gene_variant,,ENST00000513765,;RCOR2,upstream_gene_variant,,ENST00000473926,;RCOR2,upstream_gene_variant,,ENST00000489217,; A ENSG00000167771 ENST00000301459 Transcript splice_region_variant,intron_variant rs4980533 1 -1 RCOR2 HGNC HGNC:27455 protein_coding YES CCDS8052.1 ENSP00000301459 Q8IZ40 UPI000016194C NM_173587.3 7/11 0.1944 0.7161 0.8829 0.5427 0.4663 0.2599 0.5475 LOW 1 SNV 1 PASS AGT . . 0.574 0.2414 0.7769 0.4261 0.8849 0.554 0.5593 0.5692 0.4591 63914176 KLHL35 . GRCh38 chr11 75430253 75430253 + Missense_Mutation SNP A A T novel 7316-3299 BS_95P46VE0 A A c.377T>A p.Val126Glu p.V126E ENST00000539798 1/6 63 56 5 25 25 0 KLHL35,missense_variant,p.Val126Glu,ENST00000539798,NM_001039548.2;GDPD5,downstream_gene_variant,,ENST00000336898,NM_030792.6;KLHL35,upstream_gene_variant,,ENST00000376292,;GDPD5,downstream_gene_variant,,ENST00000443276,;GDPD5,downstream_gene_variant,,ENST00000526177,NM_001351167.1;GDPD5,downstream_gene_variant,,ENST00000529721,;GDPD5,downstream_gene_variant,,ENST00000533784,;GDPD5,downstream_gene_variant,,ENST00000533805,;KLHL35,upstream_gene_variant,,ENST00000460787,;KLHL35,upstream_gene_variant,,ENST00000527491,;GDPD5,downstream_gene_variant,,ENST00000527820,;GDPD5,downstream_gene_variant,,ENST00000531759,;,regulatory_region_variant,,ENSR00000042139,; T ENSG00000149243 ENST00000539798 Transcript missense_variant 377/1936 377/1752 126/583 V/E gTg/gAg 1 -1 KLHL35 HGNC HGNC:26597 protein_coding YES CCDS44685.2 ENSP00000438526 Q6PF15 UPI0001B723C7 NM_001039548.2 deleterious(0.01) benign(0.062) 1/6 Low_complexity_(Seg):seg,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF187,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695 MODERATE 1 SNV 1 PASS CAC . . 75430253 ADAMTS8 . GRCh38 chr11 130428259 130428259 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.28T>G p.Trp10Gly p.W10G ENST00000257359 1/9 76 62 10 30 29 0 ADAMTS8,missense_variant,p.Trp10Gly,ENST00000257359,NM_007037.5;,regulatory_region_variant,,ENSR00000047103,;,TF_binding_site_variant,,MA0139.1,; C ENSG00000134917 ENST00000257359 Transcript missense_variant 735/4010 28/2670 10/889 W/G Tgg/Ggg 1 -1 ADAMTS8 HGNC HGNC:224 protein_coding YES CCDS41732.1 ENSP00000257359 Q9UP79 UPI000013CF5D NM_007037.5 deleterious(0.01) benign(0.001) 1/9 Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 130428259 YBX3 . GRCh38 chr12 10723029 10723029 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.83A>C p.Gln28Pro p.Q28P ENST00000228251 1/10 64 46 14 25 25 0 YBX3,missense_variant,p.Gln28Pro,ENST00000228251,NM_003651.4;YBX3,missense_variant,p.Gln28Pro,ENST00000279550,NM_001145426.1;YBX3,upstream_gene_variant,,ENST00000544622,;YBX3,upstream_gene_variant,,ENST00000539204,;YBX3,upstream_gene_variant,,ENST00000540747,;YBX3,upstream_gene_variant,,ENST00000544501,;YBX3,upstream_gene_variant,,ENST00000546298,;YBX3,upstream_gene_variant,,ENST00000536107,;YBX3,upstream_gene_variant,,ENST00000540447,;YBX3,upstream_gene_variant,,ENST00000542641,;,regulatory_region_variant,,ENSR00000048749,; G ENSG00000060138 ENST00000228251 Transcript missense_variant 284/1796 83/1119 28/372 Q/P cAg/cCg 1 -1 YBX3 HGNC HGNC:2428 protein_coding YES CCDS8630.1 ENSP00000228251 P16989 A0A024RAQ1 UPI000013DBD6 NM_003651.4 tolerated_low_confidence(0.32) benign(0) 1/10 hmmpanther:PTHR11544,hmmpanther:PTHR11544:SF14,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTG . . 10723029 PRB4 . GRCh38 chr12 11308556 11308556 + Missense_Mutation SNP T T C rs113771252 7316-3299 BS_95P46VE0 T T c.427A>G p.Arg143Gly p.R143G ENST00000279575 3/4 30 21 5 17 16 0 PRB4,missense_variant,p.Arg143Gly,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Arg143Gly,ENST00000535904,;PRB4,intron_variant,,ENST00000445719,;PRB4,intron_variant,,ENST00000621732,NM_001261399.2; C ENSG00000230657 ENST00000279575 Transcript missense_variant 464/916 427/744 143/247 R/G Aga/Gga rs113771252 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.7) benign(0) 3/4 Pfam_domain:PF15240,Pfam_domain:PF15240,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0.0020 0.0045 0.002 0.002 MODERATE 1 SNV 5 PASS CTT . . 3.695e-05 7.74e-05 0.0001112 2.978e-05 3.777e-05 11308556 MYCBP2 . GRCh38 chr13 77326654 77326654 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.8T>G p.Val3Gly p.V3G ENST00000544440 1/83 75 62 11 17 17 0 MYCBP2,missense_variant,p.Val3Gly,ENST00000357337,NM_015057.4;MYCBP2,missense_variant,p.Val3Gly,ENST00000544440,;MYCBP2,non_coding_transcript_exon_variant,,ENST00000491491,;,regulatory_region_variant,,ENSR00000064029,; C ENSG00000005810 ENST00000544440 Transcript missense_variant 26/14664 8/13923 3/4640 V/G gTt/gGt 1 -1 MYCBP2 HGNC HGNC:23386 protein_coding YES ENSP00000444596 O75592 UPI0000212757 tolerated_low_confidence(0.57) benign(0) 1/83 MODERATE 1 SNV 1 PASS AAC . . 77326654 SOX21 . GRCh38 chr13 94711358 94711358 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.692A>C p.Asn231Thr p.N231T ENST00000376945 1/1 57 43 9 22 22 0 SOX21,missense_variant,p.Asn231Thr,ENST00000376945,NM_007084.3;SOX21-AS1,upstream_gene_variant,,ENST00000438290,;,regulatory_region_variant,,ENSR00000064606,; G ENSG00000125285 ENST00000376945 Transcript missense_variant 1042/2778 692/831 231/276 N/T aAc/aCc 1 -1 SOX21 HGNC HGNC:11197 protein_coding YES CCDS9473.1 ENSP00000366144 Q9Y651 UPI000003F547 NM_007084.3 tolerated(0.12) possibly_damaging(0.528) 1/1 hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF285 MODERATE SNV 1 PASS GTT . . 94711358 BIVM-ERCC5 . GRCh38 chr13 102853854 102853854 + Missense_Mutation SNP C C T rs587778294 7316-3299 BS_95P46VE0 C C c.1724C>T p.Thr575Ile p.T575I ENST00000639435 13/25 55 41 13 34 34 0 BIVM-ERCC5,missense_variant,p.Thr575Ile,ENST00000639435,;BIVM-ERCC5,missense_variant,p.Thr346Ile,ENST00000639132,;ERCC5,missense_variant,p.Thr575Ile,ENST00000602836,NM_001204425.1;ERCC5,missense_variant,p.Thr121Ile,ENST00000355739,NM_000123.3;ERCC5,missense_variant,p.Thr121Ile,ENST00000535557,;BIVM-ERCC5,3_prime_UTR_variant,,ENST00000639118,;ERCC5,3_prime_UTR_variant,,ENST00000472151,;BIVM-ERCC5,3_prime_UTR_variant,,ENST00000638434,;ERCC5,non_coding_transcript_exon_variant,,ENST00000375958,; T ENSG00000270181 ENST00000639435 Transcript missense_variant 2342/5632 1724/4923 575/1640 T/I aCt/aTt rs587778294 1 1 BIVM-ERCC5 HGNC HGNC:43690 protein_coding YES ENSP00000491742 R4GMW8 UPI0000577D7F deleterious(0.01) possibly_damaging(0.647) 13/25 hmmpanther:PTHR16171:SF11,hmmpanther:PTHR16171,Gene3D:3.40.50.1010,TIGRFAM_domain:TIGR00600 not_provided 24728327 MODERATE SNV 5 PASS ACT . . 102853854 NYNRIN . GRCh38 chr14 24409238 24409238 + Missense_Mutation SNP C C T novel 7316-3299 BS_95P46VE0 C C c.1444C>T p.Pro482Ser p.P482S ENST00000382554 4/9 87 65 21 28 28 0 NYNRIN,missense_variant,p.Pro482Ser,ENST00000382554,NM_025081.2;NYNRIN,upstream_gene_variant,,ENST00000554505,; T ENSG00000205978 ENST00000382554 Transcript missense_variant 1762/7857 1444/5697 482/1898 P/S Ccc/Tcc 1 1 NYNRIN HGNC HGNC:20165 protein_coding YES CCDS45090.1 ENSP00000371994 Q9P2P1 UPI0000251E63 NM_025081.2 tolerated_low_confidence(0.28) benign(0.011) 4/9 mobidb-lite,hmmpanther:PTHR12876:SF2,hmmpanther:PTHR12876 MODERATE 1 SNV 5 PASS ACC . . 24409238 FOXG1 . GRCh38 chr14 28767538 28767538 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.259A>C p.Thr87Pro p.T87P ENST00000313071 1/1 56 40 12 19 19 0 FOXG1,missense_variant,p.Thr87Pro,ENST00000313071,NM_005249.4;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000637351,;FOXG1,downstream_gene_variant,,ENST00000637817,;,regulatory_region_variant,,ENSR00000067057,; C ENSG00000176165 ENST00000313071 Transcript missense_variant 2151/4890 259/1470 87/489 T/P Acg/Ccg 1 1 FOXG1 HGNC HGNC:3811 protein_coding YES CCDS9636.1 ENSP00000339004 P55316 UPI00001AE46C NM_005249.4 tolerated_low_confidence(0.11) benign(0) 1/1 mobidb-lite,Superfamily_domains:SSF81995,hmmpanther:PTHR11829:SF316,hmmpanther:PTHR11829 MODERATE SNV 1 PASS GAC . . 28767538 STRN3 . GRCh38 chr14 31026185 31026185 + Translation_Start_Site SNP T T G novel 7316-3299 BS_95P46VE0 T T c.1A>C p.Met1? p.M1? ENST00000357479 1/18 66 46 11 26 25 0 STRN3,start_lost,p.Met1?,ENST00000355683,NM_014574.3;STRN3,start_lost,p.Met1?,ENST00000357479,NM_001083893.1;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.2;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,start_lost,p.Met1?,ENST00000555358,;,regulatory_region_variant,,ENSR00000067178,; G ENSG00000196792 ENST00000357479 Transcript start_lost 198/2799 1/2394 1/797 M/L Atg/Ctg 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 deleterious_low_confidence(0) benign(0.007) 1/18 hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,mobidb-lite HIGH SNV 5 PASS ATT . . 31026185 NPAS3 . GRCh38 chr14 33800592 33800592 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.2285A>C p.Asn762Thr p.N762T ENST00000356141 12/12 66 50 12 20 19 0 NPAS3,missense_variant,p.Asn730Thr,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Asn732Thr,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Asn767Thr,ENST00000551492,;NPAS3,missense_variant,p.Asn762Thr,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Asn749Thr,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Asn736Thr,ENST00000551634,; C ENSG00000151322 ENST00000356141 Transcript missense_variant 2285/2802 2285/2802 762/933 N/T aAc/aCc 1 1 NPAS3 HGNC HGNC:19311 protein_coding YES CCDS53891.1 ENSP00000348460 Q8IXF0 X5D2Q4 UPI00000743C2 NM_001164749.1 tolerated_low_confidence(1) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF30 MODERATE 1 SNV 1 PASS AAC . . 33800592 SPTLC2 . GRCh38 chr14 77616445 77616445 + Splice_Region SNP T T G novel 7316-3299 BS_95P46VE0 T T c.132+3A>C ENST00000216484 86 71 13 33 33 0 SPTLC2,splice_region_variant,,ENST00000216484,NM_004863.3;,regulatory_region_variant,,ENSR00000071183,; G ENSG00000100596 ENST00000216484 Transcript splice_region_variant,intron_variant 1 -1 SPTLC2 HGNC HGNC:11278 protein_coding YES CCDS9865.1 ENSP00000216484 O15270 A0A024R6H1 UPI0000000C6B NM_004863.3 1/11 LOW 1 SNV 1 1 PASS GTA . . 77616445 LINC02304 . GRCh38 chr14 97158600 97158600 + Splice_Region SNP T T G novel 7316-3299 BS_95P46VE0 T T n.314-5T>G ENST00000554445 65 58 5 25 22 0 LINC02304,splice_region_variant,,ENST00000554445,; G ENSG00000259110 ENST00000554445 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 LINC02304 HGNC HGNC:53223 lincRNA YES 1/1 LOW 1 SNV 3 PASS TTG . . 97158600 AHNAK2 . GRCh38 chr14 104942913 104942913 + Missense_Mutation SNP C C G rs770338680 7316-3299 BS_95P46VE0 C C c.12538G>C p.Asp4180His p.D4180H ENST00000333244 7/7 77 64 9 31 31 0 AHNAK2,missense_variant,p.Asp4180His,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 12658/18254 12538/17388 4180/5795 D/H Gac/Cac rs770338680 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 deleterious(0.01) probably_damaging(0.994) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS TCA . . 4.069e-06 2.982e-05 104942913 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 68 39 15 32 30 1 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 NOX5 . GRCh38 chr15 69033140 69033140 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.718T>G p.Phe240Val p.F240V ENST00000388866 5/16 57 43 6 40 39 0 NOX5,missense_variant,p.Phe222Val,ENST00000260364,;NOX5,missense_variant,p.Phe240Val,ENST00000388866,NM_024505.3;NOX5,missense_variant,p.Phe194Val,ENST00000448182,;NOX5,missense_variant,p.Phe212Val,ENST00000530406,NM_001184779.1;NOX5,missense_variant,p.Phe205Val,ENST00000455873,NM_001184780.1;AC027088.3,downstream_gene_variant,,ENST00000559495,;NOX5,missense_variant,p.Phe40Val,ENST00000525143,;NOX5,non_coding_transcript_exon_variant,,ENST00000527315,;AC027088.1,downstream_gene_variant,,ENST00000557966,; G ENSG00000255346 ENST00000388866 Transcript missense_variant 759/2804 718/2298 240/765 F/V Ttc/Gtc 1 1 NOX5 HGNC HGNC:14874 protein_coding YES CCDS32276.2 ENSP00000373518 Q96PH1 UPI000006DDBD NM_024505.3 tolerated(0.33) benign(0) 5/16 hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF58,SFLDG01168,SFLDG01169,SFLDS00052,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS GTT . . 69033140 KIAA1024 . GRCh38 chr15 79432543 79432543 + Splice_Region SNP A A C novel 7316-3299 BS_95P46VE0 A A c.-51+3A>C ENST00000305428 80 68 9 41 39 0 KIAA1024,splice_region_variant,,ENST00000305428,NM_015206.2; C ENSG00000169330 ENST00000305428 Transcript splice_region_variant,intron_variant 1 1 KIAA1024 HGNC HGNC:29172 protein_coding YES CCDS32306.1 ENSP00000307461 Q9UPX6 UPI00001B2F56 NM_015206.2 1/3 LOW 1 SNV 1 PASS TAA . . 79432543 RHBDF1 . GRCh38 chr16 61211 61211 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.1466T>G p.Ile489Ser p.I489S ENST00000262316 11/18 88 80 8 31 31 0 RHBDF1,missense_variant,p.Ile489Ser,ENST00000262316,NM_022450.3;SNRNP25,downstream_gene_variant,,ENST00000293861,;SNRNP25,downstream_gene_variant,,ENST00000383018,NM_024571.3;SNRNP25,downstream_gene_variant,,ENST00000417493,;RHBDF1,downstream_gene_variant,,ENST00000419764,;RHBDF1,upstream_gene_variant,,ENST00000448893,;RHBDF1,downstream_gene_variant,,ENST00000450643,;RHBDF1,3_prime_UTR_variant,,ENST00000428730,;SNRNP25,downstream_gene_variant,,ENST00000397876,;RHBDF1,downstream_gene_variant,,ENST00000417043,;SNRNP25,downstream_gene_variant,,ENST00000466183,;RHBDF1,downstream_gene_variant,,ENST00000472390,;SNRNP25,downstream_gene_variant,,ENST00000481947,;RHBDF1,downstream_gene_variant,,ENST00000482904,;RHBDF1,upstream_gene_variant,,ENST00000486045,;RHBDF1,downstream_gene_variant,,ENST00000487201,;RHBDF1,upstream_gene_variant,,ENST00000493647,;,regulatory_region_variant,,ENSR00000082117,; C ENSG00000007384 ENST00000262316 Transcript missense_variant 1609/2992 1466/2568 489/855 I/S aTt/aGt 1 -1 RHBDF1 HGNC HGNC:20561 protein_coding YES CCDS32344.1 ENSP00000262316 Q96CC6 UPI00001A5206 NM_022450.3 deleterious(0) benign(0.236) 11/18 Gene3D:1.20.1540.10,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF26 MODERATE 1 SNV 1 PASS AAT . . 61211 CASKIN1 . GRCh38 chr16 2180330 2180330 + Missense_Mutation SNP A A C 7316-3299 BS_95P46VE0 A A c.3038T>G p.Ile1013Ser p.I1013S ENST00000343516 18/20 106 96 5 28 28 0 CASKIN1,missense_variant,p.Ile1013Ser,ENST00000343516,NM_020764.3;TRAF7,downstream_gene_variant,,ENST00000326181,NM_032271.2;CASKIN1,downstream_gene_variant,,ENST00000564289,;,regulatory_region_variant,,ENSR00000082452,; C ENSG00000167971 ENST00000343516 Transcript missense_variant 3131/5759 3038/4296 1013/1431 I/S aTt/aGt COSM6387276 1 -1 CASKIN1 HGNC HGNC:20879 protein_coding YES CCDS42103.1 ENSP00000345436 Q8WXD9 UPI0000073A3B NM_020764.3 tolerated(0.12) probably_damaging(0.986) 18/20 hmmpanther:PTHR24177,hmmpanther:PTHR24177:SF12 1 MODERATE 1 SNV 1 1 PASS AAT . . 2180330 CASKIN1 . GRCh38 chr16 2196431 2196431 + Translation_Start_Site SNP A A C novel 7316-3299 BS_95P46VE0 A A c.2T>G p.Met1? p.M1? ENST00000343516 1/20 54 41 11 22 21 1 CASKIN1,start_lost,p.Met1?,ENST00000343516,NM_020764.3;,regulatory_region_variant,,ENSR00000082453,; C ENSG00000167971 ENST00000343516 Transcript start_lost 95/5759 2/4296 1/1431 M/R aTg/aGg 1 -1 CASKIN1 HGNC HGNC:20879 protein_coding YES CCDS42103.1 ENSP00000345436 Q8WXD9 UPI0000073A3B NM_020764.3 deleterious(0) possibly_damaging(0.841) 1/20 Gene3D:1.25.40.20 HIGH 1 SNV 1 PASS CAT . . 2196431 HMOX2 . GRCh38 chr16 4483743 4483743 + Splice_Region SNP G G C rs1359684911 7316-3299 BS_95P46VE0 G G c.-42+5G>C ENST00000572812 74 65 8 27 26 0 HMOX2,splice_region_variant,,ENST00000572812,;HMOX2,5_prime_UTR_variant,,ENST00000458134,NM_001127204.1;HMOX2,5_prime_UTR_variant,,ENST00000570445,;HMOX2,intron_variant,,ENST00000219700,;HMOX2,intron_variant,,ENST00000406590,NM_001127206.2;HMOX2,intron_variant,,ENST00000570646,;HMOX2,intron_variant,,ENST00000574466,;HMOX2,intron_variant,,ENST00000575051,;HMOX2,intron_variant,,ENST00000575120,NM_001286271.1;HMOX2,intron_variant,,ENST00000576827,;HMOX2,intron_variant,,ENST00000619528,NM_001286269.1;HMOX2,intron_variant,,ENST00000619913,NM_001286268.1,NM_002134.3;HMOX2,non_coding_transcript_exon_variant,,ENST00000574594,;NMRAL1,intron_variant,,ENST00000572559,; C ENSG00000103415 ENST00000572812 Transcript splice_region_variant,intron_variant rs1359684911 1 1 HMOX2 HGNC HGNC:5014 protein_coding ENSP00000459445 I3L276 UPI00025A2F7E 2/4 LOW SNV 4 PASS GGT . . 4483743 CSNK2A2 . GRCh38 chr16 58197735 58197735 + Translation_Start_Site SNP A A C novel 7316-3299 BS_95P46VE0 A A c.2T>G p.Met1? p.M1? ENST00000262506 1/12 42 27 12 14 13 0 CSNK2A2,start_lost,p.Met1?,ENST00000262506,NM_001896.2;CSNK2A2,start_lost,p.Met1?,ENST00000565188,;AC009107.1,intron_variant,,ENST00000561923,;RN7SL645P,downstream_gene_variant,,ENST00000496148,;CSNK2A2,upstream_gene_variant,,ENST00000566813,;CSNK2A2,upstream_gene_variant,,ENST00000562367,;,regulatory_region_variant,,ENSR00000086548,; C ENSG00000070770 ENST00000262506 Transcript start_lost 186/1701 2/1053 1/350 M/R aTg/aGg 1 -1 CSNK2A2 HGNC HGNC:2459 protein_coding YES CCDS10794.1 ENSP00000262506 P19784 UPI0000000C95 NM_001896.2 deleterious_low_confidence(0) benign(0.046) 1/12 PDB-ENSP_mappings:3e3b.X,PDB-ENSP_mappings:3ofm.A,PDB-ENSP_mappings:5m4u.A,PDB-ENSP_mappings:5m56.A,PDB-ENSP_mappings:5m56.B,PDB-ENSP_mappings:5ooi.A,PDB-ENSP_mappings:5ooi.B,hmmpanther:PTHR24054,hmmpanther:PTHR24054:SF28 HIGH 1 SNV 1 PASS CAT . . 58197735 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-3299 BS_95P46VE0 T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 74 61 11 35 34 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 NATD1 . GRCh38 chr17 21253263 21253263 + Translation_Start_Site SNP A A C novel 7316-3299 BS_95P46VE0 A A c.2T>G p.Met1? p.M1? ENST00000611551 1/3 43 30 9 19 19 0 NATD1,start_lost,p.Met1?,ENST00000611551,NM_152914.2;,regulatory_region_variant,,ENSR00000092454,; C ENSG00000274180 ENST00000611551 Transcript start_lost 148/4931 2/342 1/113 M/R aTg/aGg 1 -1 NATD1 HGNC HGNC:30770 protein_coding YES ENSP00000478388 Q8N6N6 UPI00004A2793 NM_152914.2 deleterious_low_confidence(0) benign(0.063) 1/3 hmmpanther:PTHR31435,hmmpanther:PTHR31435:SF1 HIGH 1 SNV 1 PASS CAT . . 21253263 FMNL1 . GRCh38 chr17 45222182 45222182 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.58A>C p.Lys20Gln p.K20Q ENST00000331495 1/27 56 44 9 20 20 0 FMNL1,missense_variant,p.Lys20Gln,ENST00000331495,NM_005892.3;FMNL1,missense_variant,p.Lys20Gln,ENST00000328118,;AC008105.3,non_coding_transcript_exon_variant,,ENST00000591365,;AC008105.3,upstream_gene_variant,,ENST00000585471,;AC008105.3,upstream_gene_variant,,ENST00000586376,;AC008105.3,upstream_gene_variant,,ENST00000590495,;AC008105.3,upstream_gene_variant,,ENST00000590522,;FMNL1,downstream_gene_variant,,ENST00000592415,;,regulatory_region_variant,,ENSR00000283521,; C ENSG00000184922 ENST00000331495 Transcript missense_variant 394/4101 58/3303 20/1100 K/Q Aag/Cag 1 1 FMNL1 HGNC HGNC:1212 protein_coding YES CCDS11497.1 ENSP00000329219 O95466 UPI0000246EE9 NM_005892.3 tolerated(0.46) possibly_damaging(0.614) 1/27 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAA . . 45222182 TXNDC2 . GRCh38 chr18 9887023 9887023 + Missense_Mutation SNP G G T 7316-3299 BS_95P46VE0 G G c.544G>T p.Ala182Ser p.A182S ENST00000306084 2/2 34 26 8 23 21 0 TXNDC2,missense_variant,p.Ala115Ser,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Ala182Ser,ENST00000611534,;TXNDC2,missense_variant,p.Ala182Ser,ENST00000306084,NM_001098529.1;TXNDC2,intron_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; T ENSG00000168454 ENST00000306084 Transcript missense_variant 743/1873 544/1662 182/553 A/S Gcc/Tcc COSM5956306,COSM5956305 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(0.88) benign(0.005) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 1,1 MODERATE 1 SNV 1 1,1 PASS GGC . . 9887023 ZNF57 . GRCh38 chr19 2918005 2918005 + Missense_Mutation SNP G G T rs1468801201 7316-3299 BS_95P46VE0 G G c.1384G>T p.Ala462Ser p.A462S ENST00000306908 4/4 71 59 11 40 40 0 ZNF57,missense_variant,p.Ala462Ser,ENST00000306908,NM_173480.2;ZNF57,missense_variant,p.Ala464Ser,ENST00000614108,;ZNF57,missense_variant,p.Ala430Ser,ENST00000523428,NM_001319083.1;ZNF57,downstream_gene_variant,,ENST00000522294,;ZNF57,downstream_gene_variant,,ENST00000590305,;AC119403.1,intron_variant,,ENST00000520090,; T ENSG00000171970 ENST00000306908 Transcript missense_variant 1532/2003 1384/1668 462/555 A/S Gca/Tca rs1468801201 1 1 ZNF57 HGNC HGNC:13125 protein_coding YES CCDS12098.1 ENSP00000303696 Q68EA5 A5HJR3 UPI000006FE5C NM_173480.2 tolerated(0.94) benign(0.005) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF9,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGC . . 2918005 MED26 . GRCh38 chr19 16627943 16627943 + Translation_Start_Site SNP T T G novel 7316-3299 BS_95P46VE0 T T c.1A>C p.Met1? p.M1? ENST00000263390 1/3 78 64 8 43 40 0 MED26,start_lost,p.Met1?,ENST00000263390,NM_004831.3;MED26,start_lost,p.Met1?,ENST00000611692,;MED26,start_lost,p.Met1?,ENST00000600060,;AC008764.4,intron_variant,,ENST00000593459,;MED26,intron_variant,,ENST00000598608,;MED26,upstream_gene_variant,,ENST00000601478,;AC008764.2,intron_variant,,ENST00000597226,;AC024075.3,upstream_gene_variant,,ENST00000601040,;AC024075.3,upstream_gene_variant,,ENST00000601687,;AC008764.4,intron_variant,,ENST00000593962,;SMIM7,downstream_gene_variant,,ENST00000599872,;AC008764.1,start_lost,p.Met1?,ENST00000409035,;AC008764.4,intron_variant,,ENST00000593991,;AC008764.4,intron_variant,,ENST00000594509,;AC008764.4,intron_variant,,ENST00000595505,;AC008764.4,intron_variant,,ENST00000600705,;AC008764.4,intron_variant,,ENST00000601636,;SMIM7,downstream_gene_variant,,ENST00000465250,;SMIM7,downstream_gene_variant,,ENST00000481671,;SMIM7,downstream_gene_variant,,ENST00000594662,;SMIM7,downstream_gene_variant,,ENST00000597781,;SMIM7,downstream_gene_variant,,ENST00000598278,;,regulatory_region_variant,,ENSR00000107787,; G ENSG00000105085 ENST00000263390 Transcript start_lost 264/3174 1/1803 1/600 M/L Atg/Ctg 1 -1 MED26 HGNC HGNC:2376 protein_coding YES CCDS12347.1 ENSP00000263390 O95402 UPI000013D3FC NM_004831.3 deleterious(0.01) benign(0.069) 1/3 hmmpanther:PTHR15201 HIGH 1 SNV 1 PASS ATT . . 16627943 ZNF626 . GRCh38 chr19 20624947 20624947 + Missense_Mutation SNP T T A 7316-3299 BS_95P46VE0 T T c.930A>T p.Glu310Asp p.E310D ENST00000601440 4/4 66 53 6 37 35 0 ZNF626,missense_variant,p.Glu310Asp,ENST00000601440,NM_001076675.2;ZNF626,missense_variant,p.Glu310Asp,ENST00000612591,;ZNF626,downstream_gene_variant,,ENST00000595405,;AC010636.2,intron_variant,,ENST00000595094,; A ENSG00000188171 ENST00000601440 Transcript missense_variant 1077/5963 930/1587 310/528 E/D gaA/gaT COSM4744479 1 -1 ZNF626 HGNC HGNC:30461 protein_coding YES CCDS42535.1 ENSP00000469958 Q68DY1 UPI000035E843 NM_001076675.2 deleterious(0.04) benign(0.105) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF129,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS TTT . . 20624947 ZNF43 . GRCh38 chr19 21809324 21809324 + Missense_Mutation SNP A A G rs1433175927 7316-3299 BS_95P46VE0 A A c.740T>C p.Val247Ala p.V247A ENST00000357491 4/4 71 60 6 22 21 0 ZNF43,missense_variant,p.Val232Ala,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Val247Ala,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Val232Ala,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Val232Ala,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Val238Ala,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; G ENSG00000198521 ENST00000357491 Transcript missense_variant 874/5249 740/2457 247/818 V/A gTc/gCc rs1433175927 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GAC . . 21809324 ZNF208 . GRCh38 chr19 21971389 21971389 + Missense_Mutation SNP G G T 7316-3299 BS_95P46VE0 G G c.3645C>A p.His1215Gln p.H1215Q ENST00000397126 4/4 62 38 7 48 45 0 ZNF208,missense_variant,p.His1215Gln,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.His1087Gln,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; T ENSG00000160321 ENST00000397126 Transcript missense_variant 3794/3992 3645/3843 1215/1280 H/Q caC/caA COSM1611937,COSM1611936,COSM1611935 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 deleterious(0.02) probably_damaging(0.993) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1,1 MODERATE 1 SNV 3 1,1,1 PASS TGT . . 21971389 ZNF257 . GRCh38 chr19 22088853 22088853 + Missense_Mutation SNP A A G rs775319866 7316-3299 BS_95P46VE0 A A c.1103A>G p.Lys368Arg p.K368R ENST00000594947 4/4 68 49 10 35 33 1 ZNF257,missense_variant,p.Lys368Arg,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; G ENSG00000197134 ENST00000594947 Transcript missense_variant 1247/3874 1103/1692 368/563 K/R aAa/aGa rs775319866,COSM6991452 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 tolerated(0.07) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:2.30.30.380,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 4 0,1 PASS AAA . . 1.64e-05 8.987e-05 9.026e-06 3.299e-05 22088853 ZNF729 . GRCh38 chr19 22315753 22315753 + Missense_Mutation SNP G G T novel 7316-3299 BS_95P46VE0 G G c.2336G>T p.Ser779Ile p.S779I ENST00000601693 4/4 71 56 6 37 37 0 ZNF729,missense_variant,p.Ser779Ile,ENST00000601693,NM_001242680.1; T ENSG00000196350 ENST00000601693 Transcript missense_variant 2454/3877 2336/3759 779/1252 S/I aGt/aTt 1 1 ZNF729 HGNC HGNC:32464 protein_coding YES CCDS59368.1 ENSP00000469582 A6NN14 UPI000042600C NM_001242680.1 tolerated(0.28) benign(0.131) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS AGT . . 22315753 ZNF99 . GRCh38 chr19 22757463 22757463 + Missense_Mutation SNP A A T 7316-3299 BS_95P46VE0 A A c.2446T>A p.Ser816Thr p.S816T ENST00000596209 4/4 51 39 7 41 40 0 ZNF99,missense_variant,p.Ser816Thr,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Ser725Thr,ENST00000397104,; T ENSG00000213973 ENST00000596209 Transcript missense_variant 2537/7817 2446/2595 816/864 S/T Tcc/Acc COSM4745256 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 deleterious(0.02) benign(0) 4/4 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 5 1 PASS GAT . . 22757463 ZNF724 . GRCh38 chr19 23222501 23222501 + Missense_Mutation SNP C C A 7316-3299 BS_95P46VE0 C C c.1744G>T p.Val582Leu p.V582L ENST00000418100 4/4 75 56 9 47 45 0 ZNF724,missense_variant,p.Val582Leu,ENST00000418100,NM_001355404.1,NM_001355406.1,NM_001355405.1;ZNF724,downstream_gene_variant,,ENST00000597537,;AC092329.3,downstream_gene_variant,,ENST00000611392,; A ENSG00000196081 ENST00000418100 Transcript missense_variant 1862/2764 1744/1860 582/619 V/L Gta/Tta COSM5571657,COSM5571656 1 -1 ZNF724 HGNC HGNC:32460 protein_coding YES ENSP00000413411 A8MTY0 UPI0000EE61E4 NM_001355404.1,NM_001355406.1,NM_001355405.1 tolerated(0.45) benign(0.052) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 2 1,1 PASS ACC . . 23222501 ZNF724 . GRCh38 chr19 23222839 23222839 + Missense_Mutation SNP C C A 7316-3299 BS_95P46VE0 C C c.1406G>T p.Arg469Met p.R469M ENST00000418100 4/4 68 50 13 44 43 0 ZNF724,missense_variant,p.Arg469Met,ENST00000418100,NM_001355404.1,NM_001355406.1,NM_001355405.1;AC092329.3,missense_variant,p.Arg463Met,ENST00000611392,;ZNF724,downstream_gene_variant,,ENST00000597537,; A ENSG00000196081 ENST00000418100 Transcript missense_variant 1524/2764 1406/1860 469/619 R/M aGg/aTg COSM6455176,COSM6455175 1 -1 ZNF724 HGNC HGNC:32460 protein_coding YES ENSP00000413411 A8MTY0 UPI0000EE61E4 NM_001355404.1,NM_001355406.1,NM_001355405.1 deleterious(0.02) benign(0.343) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 2 1,1 PASS CCT . . 23222839 KMT2B . GRCh38 chr19 35718275 35718275 + Missense_Mutation SNP G G C novel 7316-3299 BS_95P46VE0 G G c.257G>C p.Gly86Ala p.G86A ENST00000420124 1/37 67 61 5 16 16 0 KMT2B,missense_variant,p.Gly86Ala,ENST00000420124,NM_014727.2;ZBTB32,downstream_gene_variant,,ENST00000262630,;ZBTB32,downstream_gene_variant,,ENST00000392197,NM_014383.2,NM_001316902.1;ZBTB32,downstream_gene_variant,,ENST00000426659,NM_001316903.1;ZBTB32,downstream_gene_variant,,ENST00000442282,;ZBTB32,downstream_gene_variant,,ENST00000451726,;KMT2B,upstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000481182,;,regulatory_region_variant,,ENSR00000109057,; C ENSG00000272333 ENST00000420124 Transcript missense_variant 257/8469 257/8148 86/2715 G/A gGc/gCc 1 1 KMT2B HGNC HGNC:15840 protein_coding YES CCDS46055.1 ENSP00000398837 Q9UMN6 UPI00001376B5 NM_014727.2 deleterious_low_confidence(0) probably_damaging(0.981) 1/37 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GGC . . 35718275 ZNF850 . GRCh38 chr19 36749329 36749329 + Missense_Mutation SNP T T A novel 7316-3299 BS_95P46VE0 T T c.1711A>T p.Thr571Ser p.T571S ENST00000591344 5/5 77 62 7 42 41 0 ZNF850,missense_variant,p.Thr571Ser,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Thr539Ser,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; A ENSG00000267041 ENST00000591344 Transcript missense_variant 1870/7714 1711/3273 571/1090 T/S Act/Tct 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 tolerated(1) benign(0.023) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GTA . . 36749329 ZNF850 . GRCh38 chr19 36749942 36749942 + Missense_Mutation SNP G G C 7316-3299 BS_95P46VE0 G G c.1098C>G p.Asp366Glu p.D366E ENST00000591344 5/5 69 54 7 40 39 0 ZNF850,missense_variant,p.Asp366Glu,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Asp334Glu,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; C ENSG00000267041 ENST00000591344 Transcript missense_variant 1257/7714 1098/3273 366/1090 D/E gaC/gaG COSM6235945,COSM6235944 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 tolerated(1) benign(0.023) 5/5 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS AGT . . 36749942 MAP3K10 . GRCh38 chr19 40192032 40192032 + Translation_Start_Site SNP A A C novel 7316-3299 BS_95P46VE0 A A c.1A>C p.Met1? p.M1? ENST00000253055 1/10 59 40 14 29 27 1 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; C ENSG00000130758 ENST00000253055 Transcript start_lost 289/3436 1/2865 1/954 M/L Atg/Ctg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.456) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS CAT . . 40192032 RELB . GRCh38 chr19 45001683 45001683 + Nonsense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.104T>G p.Leu35Ter p.L35* ENST00000221452 1/12 57 44 10 17 17 0 RELB,stop_gained,p.Leu35Ter,ENST00000221452,NM_006509.3;RELB,stop_gained,p.Leu35Ter,ENST00000625761,;RELB,stop_gained,p.Leu35Ter,ENST00000505236,;RELB,stop_gained,p.Leu35Ter,ENST00000509480,;,regulatory_region_variant,,ENSR00000110128,; G ENSG00000104856 ENST00000221452 Transcript stop_gained,splice_region_variant 254/2294 104/1740 35/579 L/* tTa/tGa 1 1 RELB HGNC HGNC:9956 protein_coding YES CCDS46110.1 ENSP00000221452 Q01201 UPI00000012B7 NM_006509.3 1/12 Pfam_domain:PF16180,mobidb-lite HIGH 1 SNV 1 1 PASS TTA . . 45001683 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 78 54 18 29 27 2 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 ZNF468 . GRCh38 chr19 52841341 52841341 + Missense_Mutation SNP T T C rs1274887125 7316-3299 BS_95P46VE0 T T c.953A>G p.Lys318Arg p.K318R ENST00000595646 4/4 56 46 6 38 38 0 ZNF468,missense_variant,p.Lys318Arg,ENST00000595646,NM_001008801.1;ZNF468,3_prime_UTR_variant,,ENST00000243639,NM_001277120.1;ZNF28,intron_variant,,ENST00000594602,;ZNF28,intron_variant,,ENST00000596559,;ZNF468,downstream_gene_variant,,ENST00000396409,;ZNF468,downstream_gene_variant,,ENST00000597924,;ZNF468,downstream_gene_variant,,ENST00000601847,;ZNF468,downstream_gene_variant,,ENST00000601980,;ZNF468,downstream_gene_variant,,ENST00000602144,; C ENSG00000204604 ENST00000595646 Transcript missense_variant 1074/4407 953/1569 318/522 K/R aAg/aGg rs1274887125,COSM5956494 1 -1 ZNF468 HGNC HGNC:33105 protein_coding YES CCDS33094.1 ENSP00000470381 Q5VIY5 UPI00001D8191 NM_001008801.1 tolerated(0.71) benign(0.011) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF301,hmmpanther:PTHR24377:SF301,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CTT . . 52841341 ZNF845 . GRCh38 chr19 53352854 53352854 + Missense_Mutation SNP G G T 7316-3299 BS_95P46VE0 G G c.2179G>T p.Ala727Ser p.A727S ENST00000458035 4/4 68 56 5 38 36 0 ZNF845,missense_variant,p.Ala727Ser,ENST00000458035,NM_138374.2;ZNF845,missense_variant,p.Ala727Ser,ENST00000595091,NM_001321524.1,NM_001321523.1,NM_001321522.1; T ENSG00000213799 ENST00000458035 Transcript missense_variant 2299/6351 2179/2913 727/970 A/S Gcc/Tcc COSM6331365 1 1 ZNF845 HGNC HGNC:25112 protein_coding YES CCDS46170.1 ENSP00000388311 Q96IR2 UPI0001662BAC NM_138374.2 tolerated(0.21) benign(0.237) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS GGC . . 53352854 ZNF845 . GRCh38 chr19 53353441 53353441 + Missense_Mutation SNP A A T 7316-3299 BS_95P46VE0 A A c.2766A>T p.Lys922Asn p.K922N ENST00000458035 4/4 72 52 6 32 32 0 ZNF845,missense_variant,p.Lys922Asn,ENST00000458035,NM_138374.2;ZNF845,missense_variant,p.Lys922Asn,ENST00000595091,NM_001321524.1,NM_001321523.1,NM_001321522.1; T ENSG00000213799 ENST00000458035 Transcript missense_variant 2886/6351 2766/2913 922/970 K/N aaA/aaT COSM1293822 1 1 ZNF845 HGNC HGNC:25112 protein_coding YES CCDS46170.1 ENSP00000388311 Q96IR2 UPI0001662BAC NM_138374.2 deleterious(0) probably_damaging(0.984) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS AAA . . 53353441 ZNF813 . GRCh38 chr19 53491533 53491533 + Missense_Mutation SNP G G C rs1306575204 7316-3299 BS_95P46VE0 G G c.1301G>C p.Ser434Thr p.S434T ENST00000396403 4/4 70 58 9 39 38 1 ZNF813,missense_variant,p.Ser434Thr,ENST00000396403,NM_001004301.3;ZNF813,downstream_gene_variant,,ENST00000468450,;ZNF813,downstream_gene_variant,,ENST00000490956,;AC022137.1,upstream_gene_variant,,ENST00000483735,; C ENSG00000198346 ENST00000396403 Transcript missense_variant 1429/6151 1301/1854 434/617 S/T aGt/aCt rs1306575204 1 1 ZNF813 HGNC HGNC:33257 protein_coding YES CCDS46172.1 ENSP00000379684 Q6ZN06 UPI000040C511 NM_001004301.3 tolerated(1) benign(0.006) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS AGT . . 53491533 OSCAR . GRCh38 chr19 54095778 54095778 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.761T>G p.Leu254Arg p.L254R ENST00000611261 6/6 71 53 9 31 28 0 OSCAR,missense_variant,p.Leu254Arg,ENST00000611261,NM_206818.2;OSCAR,missense_variant,p.Leu250Arg,ENST00000284648,NM_001282349.1;OSCAR,missense_variant,p.Leu239Arg,ENST00000616215,NM_001282350.1;OSCAR,missense_variant,p.Leu254Arg,ENST00000359649,;OSCAR,missense_variant,p.Leu239Arg,ENST00000391761,;OSCAR,3_prime_UTR_variant,,ENST00000391760,;OSCAR,intron_variant,,ENST00000351806,NM_133168.4;OSCAR,intron_variant,,ENST00000356532,;OSCAR,intron_variant,,ENST00000358375,NM_133169.4;OSCAR,intron_variant,,ENST00000616447,;OSCAR,intron_variant,,ENST00000617140,NM_130771.4; C ENSG00000170909 ENST00000611261 Transcript missense_variant 953/2061 761/861 254/286 L/R cTc/cGc 1 -1 OSCAR HGNC HGNC:29960 protein_coding YES CCDS12876.1 ENSP00000479089 A0A087WV17 UPI00034F23BB NM_206818.2 deleterious_low_confidence(0.03) benign(0.196) 6/6 mobidb-lite,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF150 MODERATE 1 SNV 5 PASS GAG . . 54095778 LILRB3 . GRCh38 chr19 54222365 54222365 + Missense_Mutation SNP G G C rs138323850 7316-3299 BS_95P46VE0 G G c.268C>G p.Gln90Glu p.Q90E ENST00000245620 3/13 115 88 26 40 38 1 LILRB3,missense_variant,p.Gln90Glu,ENST00000391750,NM_001320960.1,NM_006864.3;LILRB3,missense_variant,p.Gln90Glu,ENST00000346401,;LILRB3,missense_variant,p.Gln90Glu,ENST00000245620,NM_001081450.2;LILRB3,missense_variant,p.Gln90Glu,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,missense_variant,p.Gln90Glu,ENST00000414379,;LILRB3,non_coding_transcript_exon_variant,,ENST00000468668,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;,regulatory_region_variant,,ENSR00000111471,; C ENSG00000204577 ENST00000245620 Transcript missense_variant 270/2066 268/1899 90/632 Q/E Cag/Gag rs138323850 1 -1 LILRB3 HGNC HGNC:6607 protein_coding YES CCDS46175.1 ENSP00000245620 O75022 UPI00034F2393 NM_001081450.2 tolerated(1) benign(0.003) 3/13 Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05751 MODERATE 1 SNV 1 PASS TGT . . 54222365 BRSK1 . GRCh38 chr19 55284504 55284504 + Missense_Mutation SNP A A C rs766805767 7316-3299 BS_95P46VE0 A A c.62A>C p.His21Pro p.H21P ENST00000309383 1/19 47 20 14 32 28 1 BRSK1,missense_variant,p.His21Pro,ENST00000309383,NM_032430.1;BRSK1,missense_variant,p.His21Pro,ENST00000585418,;BRSK1,intron_variant,,ENST00000590333,;HSPBP1,upstream_gene_variant,,ENST00000255631,NM_012267.4,NM_001130106.1;HSPBP1,upstream_gene_variant,,ENST00000433386,;HSPBP1,upstream_gene_variant,,ENST00000585698,;HSPBP1,upstream_gene_variant,,ENST00000585927,;HSPBP1,upstream_gene_variant,,ENST00000587551,;HSPBP1,upstream_gene_variant,,ENST00000587922,NM_001297600.1;HSPBP1,upstream_gene_variant,,ENST00000587959,;HSPBP1,upstream_gene_variant,,ENST00000588971,;HSPBP1,upstream_gene_variant,,ENST00000593263,;BRSK1,intron_variant,,ENST00000592539,;,regulatory_region_variant,,ENSR00000111620,; C ENSG00000160469 ENST00000309383 Transcript missense_variant 339/3079 62/2337 21/778 H/P cAc/cCc rs766805767 1 1 BRSK1 HGNC HGNC:18994 protein_coding YES CCDS12921.1 ENSP00000310649 Q8TDC3 UPI0000070495 NM_032430.1 tolerated_low_confidence(0.21) benign(0) 1/19 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CAC . . 0.01895 0.004854 0.0118 0.05376 0.00885 0.01385 0.0375 0.04082 0.04437 55284504 ZNF749 . GRCh38 chr19 57444698 57444698 + Missense_Mutation SNP C C A novel 7316-3299 BS_95P46VE0 C C c.1550C>A p.Ala517Glu p.A517E ENST00000334181 3/3 72 58 11 37 35 0 ZNF749,missense_variant,p.Ala517Glu,ENST00000334181,NM_001321952.1,NM_001023561.3;AC004076.1,intron_variant,,ENST00000596831,;ZNF749,downstream_gene_variant,,ENST00000415248,NM_001321954.1;AC004076.2,upstream_gene_variant,,ENST00000620532,; A ENSG00000186230 ENST00000334181 Transcript missense_variant 1800/2587 1550/2337 517/778 A/E gCg/gAg 1 1 ZNF749 HGNC HGNC:32783 protein_coding YES CCDS33132.2 ENSP00000333980 O43361 UPI0000237933 NM_001321952.1,NM_001023561.3 deleterious(0) benign(0.037) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GCG . . 57444698 NKX2-4 . GRCh38 chr20 21397287 21397287 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.113T>G p.Leu38Arg p.L38R ENST00000351817 1/2 69 55 9 30 30 0 NKX2-4,missense_variant,p.Leu38Arg,ENST00000351817,NM_033176.1;AL158013.1,upstream_gene_variant,,ENST00000419666,;AL158013.1,upstream_gene_variant,,ENST00000552439,;,regulatory_region_variant,,ENSR00000135500,; C ENSG00000125816 ENST00000351817 Transcript missense_variant 742/2238 113/1065 38/354 L/R cTg/cGg 1 -1 NKX2-4 HGNC HGNC:7837 protein_coding YES CCDS42855.1 ENSP00000345147 Q9H2Z4 UPI00001AE6EC NM_033176.1 deleterious(0) benign(0.425) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR24340:SF40,hmmpanther:PTHR24340 MODERATE 1 SNV 5 PASS CAG . . 21397287 TTI1 . GRCh38 chr20 38019146 38019147 + Splice_Region INS - - A rs1453069232 7316-3299 BS_95P46VE0 - - c.-181-3dup ENST00000373448 67 40 13 37 26 0 TTI1,splice_region_variant,,ENST00000373448,NM_014657.2;TTI1,intron_variant,,ENST00000373447,NM_001303457.1; A ENSG00000101407 ENST00000373448 Transcript splice_region_variant,intron_variant rs1453069232 1 -1 TTI1 HGNC HGNC:29029 protein_coding YES CCDS13300.1 ENSP00000362547 O43156 UPI000012DB27 NM_014657.2 1/8 LOW 1 insertion 1 PASS CTA . . 38019146 OGFR . GRCh38 chr20 62813188 62813188 + Missense_Mutation SNP A A C rs61729550 7316-3299 BS_95P46VE0 A A c.1573A>C p.Ser525Arg p.S525R ENST00000290291 7/7 74 59 15 28 28 0 OGFR,missense_variant,p.Ser473Arg,ENST00000370461,;OGFR,missense_variant,p.Ser525Arg,ENST00000290291,NM_007346.2;OGFR,intron_variant,,ENST00000621591,;COL9A3,upstream_gene_variant,,ENST00000343916,NM_001853.3;OGFR,downstream_gene_variant,,ENST00000450048,;COL9A3,upstream_gene_variant,,ENST00000452372,;COL9A3,upstream_gene_variant,,ENST00000477612,;COL9A3,upstream_gene_variant,,ENST00000489045,; C ENSG00000060491 ENST00000290291 Transcript missense_variant 1598/2410 1573/2034 525/677 S/R Agc/Cgc rs61729550,COSM6339771,COSM6339770 1 1 OGFR HGNC HGNC:15768 protein_coding YES CCDS13504.1 ENSP00000290291 Q9NZT2 UPI000013F107 NM_007346.2 deleterious(0.03) possibly_damaging(0.494) 7/7 Low_complexity_(Seg):seg,mobidb-lite,Pfam_domain:PF04680 0.0180 0.0076 0.036 0.001 0.0457 0.0082 0.009958 0.04588 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CAG . . 0.003852 0.001317 0.001135 0.005992 6.337e-05 0.005357 0.006441 0.004361 0.0005003 62813188 KRTAP10-11 . GRCh38 chr21 44646758 44646758 + Missense_Mutation SNP T T G novel 7316-3299 BS_95P46VE0 T T c.300T>G p.Cys100Trp p.C100W ENST00000334670 1/1 92 74 6 32 31 0 KRTAP10-11,missense_variant,p.Cys100Trp,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000642437,; G ENSG00000243489 ENST00000334670 Transcript missense_variant 345/1237 300/897 100/298 C/W tgT/tgG 1 1 KRTAP10-11 HGNC HGNC:20528 protein_coding YES CCDS42962.1 ENSP00000334197 P60412 UPI000040FC94 NM_198692.2 deleterious(0) probably_damaging(0.988) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF125,Low_complexity_(Seg):seg MODERATE SNV PASS GTG . . 44646758 FAM207A . GRCh38 chr21 44940185 44940185 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.128A>C p.Lys43Thr p.K43T ENST00000291634 1/6 90 64 20 19 19 0 FAM207A,missense_variant,p.Lys43Thr,ENST00000291634,NM_001316983.1,NM_058190.3,NM_001316986.1;FAM207A,missense_variant,p.Lys43Thr,ENST00000397826,NM_001316984.1,NM_001316987.1,NM_001316985.1,NM_001316988.1;FAM207A,missense_variant,p.Lys43Thr,ENST00000458015,;LINC01547,upstream_gene_variant,,ENST00000330551,;LINC01547,upstream_gene_variant,,ENST00000397841,;AL844908.1,downstream_gene_variant,,ENST00000609953,;,regulatory_region_variant,,ENSR00000143123,; C ENSG00000160256 ENST00000291634 Transcript missense_variant,splice_region_variant 176/927 128/693 43/230 K/T aAg/aCg 1 1 FAM207A HGNC HGNC:15811 protein_coding YES CCDS13718.1 ENSP00000291634 Q9NSI2 UPI00001286B9 NM_001316983.1,NM_058190.3,NM_001316986.1 deleterious(0.03) benign(0.372) 1/6 hmmpanther:PTHR31109 MODERATE 1 SNV 1 PASS AAG . . 44940185 TRIOBP . GRCh38 chr22 37724733 37724733 + Missense_Mutation SNP G G T 7316-3299 BS_95P46VE0 G G c.2177G>T p.Arg726Leu p.R726L ENST00000406386 7/24 40 31 6 27 26 0 TRIOBP,missense_variant,p.Arg726Leu,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Arg726Leu,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; T ENSG00000100106 ENST00000406386 Transcript missense_variant 2448/10145 2177/7098 726/2365 R/L cGa/cTa COSM6313163,COSM6277657 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 deleterious_low_confidence(0.04) benign(0.007) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite 1,1 MODERATE 1 SNV 5 1,1 1 PASS CGA . . 37724733 MAGEB3 . GRCh38 chrX 30235967 30235967 + Missense_Mutation SNP C C T rs140421974 7316-3299 BS_95P46VE0 C C c.43C>T p.Arg15Cys p.R15C ENST00000361644 5/5 54 36 16 27 27 0 MAGEB3,missense_variant,p.Arg15Cys,ENST00000361644,NM_002365.4;MAGEB3,missense_variant,p.Arg15Cys,ENST00000620842,; T ENSG00000198798 ENST00000361644 Transcript missense_variant 780/2305 43/1041 15/346 R/C Cgc/Tgc rs140421974,COSM162329 1 1 MAGEB3 HGNC HGNC:6810 protein_coding YES CCDS14220.1 ENSP00000355198 O15480 UPI000013E79F NM_002365.4 tolerated(0.15) benign(0) 5/5 mobidb-lite,hmmpanther:PTHR11736:SF53,hmmpanther:PTHR11736,Pfam_domain:PF12440,SMART_domains:SM01392 0.0002973 0,1 MODERATE 1 SNV 2 0,1 PASS ACG . . 1.709e-05 3.81e-05 2.533e-05 30235967 PHF8 . GRCh38 chrX 54017804 54017804 + Missense_Mutation SNP A A T novel 7316-3299 BS_95P46VE0 A A c.419T>A p.Leu140Gln p.L140Q ENST00000357988 5/22 52 43 9 27 27 0 PHF8,missense_variant,p.Leu104Gln,ENST00000338154,NM_015107.2;PHF8,missense_variant,p.Leu140Gln,ENST00000357988,NM_001184896.1;PHF8,missense_variant,p.Leu104Gln,ENST00000338946,NM_001184897.1;PHF8,missense_variant,p.Leu8Gln,ENST00000396282,;PHF8,missense_variant,p.Leu104Gln,ENST00000322659,NM_001184898.1;PHF8,missense_variant,p.Leu104Gln,ENST00000415025,;PHF8,missense_variant,p.Leu104Gln,ENST00000425862,;PHF8,missense_variant,p.Leu104Gln,ENST00000437224,;PHF8,missense_variant,p.Leu140Gln,ENST00000453905,;PHF8,downstream_gene_variant,,ENST00000433120,;PHF8,upstream_gene_variant,,ENST00000443302,;PHF8,downstream_gene_variant,,ENST00000445025,;PHF8,upstream_gene_variant,,ENST00000490635,; T ENSG00000172943 ENST00000357988 Transcript missense_variant 778/6024 419/3183 140/1060 L/Q cTg/cAg 1 -1 PHF8 HGNC HGNC:20672 protein_coding YES CCDS55420.1 ENSP00000350676 Q9UPP1 UPI00001C2071 NM_001184896.1 deleterious(0.04) probably_damaging(0.918) 5/22 hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF11,Gene3D:2.60.120.650 MODERATE 1 SNV 1 1 PASS CAG . . 54017804 ARMCX4 . GRCh38 chrX 101494050 101494050 + Missense_Mutation SNP G G A rs113417448 7316-3299 BS_95P46VE0 G G c.5461G>A p.Ala1821Thr p.A1821T ENST00000423738 2/2 90 40 13 47 29 0 ARMCX4,missense_variant,p.Ala1821Thr,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; A ENSG00000196440 ENST00000423738 Transcript missense_variant 5663/7424 5461/6873 1821/2290 A/T Gct/Act rs113417448 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.28) benign(0.013) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GGC . . 0.000247 0.0006079 0.0002147 0.0001544 0.0002862 101494050 ARMCX4 . GRCh38 chrX 101494065 101494065 + Missense_Mutation SNP G G A novel 7316-3299 BS_95P46VE0 G G c.5476G>A p.Gly1826Arg p.G1826R ENST00000423738 2/2 82 33 8 50 28 0 ARMCX4,missense_variant,p.Gly1826Arg,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; A ENSG00000196440 ENST00000423738 Transcript missense_variant 5678/7424 5476/6873 1826/2290 G/R Ggg/Agg 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.55) benign(0.18) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TGG . . 101494065 ZMAT1 . GRCh38 chrX 101884224 101884224 + Missense_Mutation SNP T T A rs1200998598 7316-3299 BS_95P46VE0 T T c.1203A>T p.Lys401Asn p.K401N ENST00000372782 7/7 68 63 5 33 33 0 ZMAT1,missense_variant,p.Lys401Asn,ENST00000372782,NM_001011657.3;ZMAT1,missense_variant,p.Lys401Asn,ENST00000540921,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000494068,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000458570,NM_001282401.1;ZMAT1,non_coding_transcript_exon_variant,,ENST00000488347,NM_001282400.1;ZMAT1,downstream_gene_variant,,ENST00000490757,; A ENSG00000166432 ENST00000372782 Transcript missense_variant 1251/3185 1203/1917 401/638 K/N aaA/aaT rs1200998598 1 -1 ZMAT1 HGNC HGNC:29377 protein_coding YES CCDS35348.1 ENSP00000361868 Q5H9K5 UPI0001DD37FB NM_001011657.3 tolerated(0.07) benign(0.104) 7/7 MODERATE 1 SNV 1 PASS CTT . . 101884224 TEX13A . GRCh38 chrX 105219741 105219741 + Missense_Mutation SNP A A C novel 7316-3299 BS_95P46VE0 A A c.453T>G p.His151Gln p.H151Q ENST00000600991 3/3 71 57 10 21 20 0 TEX13A,missense_variant,p.His151Gln,ENST00000600991,NM_031274.4;TEX13A,missense_variant,p.His151Gln,ENST00000609007,NM_001291277.1;IL1RAPL2,intron_variant,,ENST00000372582,NM_017416.1; C ENSG00000268629 ENST00000600991 Transcript missense_variant 565/1377 453/1230 151/409 H/Q caT/caG 1 -1 TEX13A HGNC HGNC:11735 protein_coding YES CCDS76005.1 ENSP00000471604 Q9BXU3 UPI0000042200 NM_031274.4 tolerated(0.48) benign(0.009) 3/3 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF44 MODERATE 1 SNV 1 PASS CAT . . 105219741 TEX13C . GRCh38 chrX 125322256 125322256 + Missense_Mutation SNP C C A novel 7316-3299 BS_95P46VE0 C C c.2137C>A p.Leu713Met p.L713M ENST00000632600 1/1 30 20 7 28 26 0 TEX13C,missense_variant,p.Leu713Met,ENST00000632600,NM_001195272.1;AL627231.1,downstream_gene_variant,,ENST00000394467,; A ENSG00000282815 ENST00000632600 Transcript missense_variant 2137/5095 2137/2982 713/993 L/M Ctg/Atg 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.29) probably_damaging(0.96) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,hmmpanther:PTHR23111:SF28 MODERATE 1 SNV PASS CCT . . 125322256 MAGEC1 . GRCh38 chrX 141906704 141906704 + Missense_Mutation SNP G G T 7316-3299 BS_95P46VE0 G G c.1300G>T p.Ala434Ser p.A434S ENST00000285879 4/4 50 38 6 45 42 0 MAGEC1,missense_variant,p.Ala434Ser,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; T ENSG00000155495 ENST00000285879 Transcript missense_variant 1586/4270 1300/3429 434/1142 A/S Gct/Tct COSM3558669,COSM1716150 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(0.57) benign(0.003) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 1,1 MODERATE 1 SNV 1 1,1 PASS TGC . . 141906704 MIB2 . GRCh38 chr1 1627323 1627323 + Missense_Mutation SNP G G C novel 7316-454 BS_RAFVMB92 G G c.1747G>C p.Ala583Pro p.A583P ENST00000505820 12/20 84 52 31 44 44 0 MIB2,missense_variant,p.Ala579Pro,ENST00000520777,NM_001170686.1;MIB2,missense_variant,p.Ala482Pro,ENST00000504599,;MIB2,missense_variant,p.Ala583Pro,ENST00000505820,NM_080875.2;MIB2,missense_variant,p.Ala569Pro,ENST00000355826,NM_001170687.1;MIB2,missense_variant,p.Ala518Pro,ENST00000518681,NM_001170688.1;MIB2,missense_variant,p.Ala432Pro,ENST00000378708,;MIB2,missense_variant,p.Ala403Pro,ENST00000378712,NM_001170689.1;MIB2,missense_variant,p.Ala342Pro,ENST00000514234,;MMP23B,upstream_gene_variant,,ENST00000356026,NM_006983.1;MMP23B,upstream_gene_variant,,ENST00000378675,;MMP23B,upstream_gene_variant,,ENST00000472264,;MIB2,upstream_gene_variant,,ENST00000483015,;MIB2,downstream_gene_variant,,ENST00000503789,;MIB2,downstream_gene_variant,,ENST00000510793,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,missense_variant,p.Ala482Pro,ENST00000487053,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,3_prime_UTR_variant,,ENST00000506488,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000507229,;MIB2,non_coding_transcript_exon_variant,,ENST00000505370,;MIB2,upstream_gene_variant,,ENST00000464570,;MIB2,downstream_gene_variant,,ENST00000467597,;MIB2,upstream_gene_variant,,ENST00000470373,;MIB2,upstream_gene_variant,,ENST00000473511,;MIB2,downstream_gene_variant,,ENST00000486072,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,downstream_gene_variant,,ENST00000508148,;MIB2,downstream_gene_variant,,ENST00000508455,;MIB2,upstream_gene_variant,,ENST00000511910,;MMP23B,upstream_gene_variant,,ENST00000512731,;MIB2,downstream_gene_variant,,ENST00000514363,;,regulatory_region_variant,,ENSR00000000212,; C ENSG00000197530 ENST00000505820 Transcript missense_variant 1764/3305 1747/3213 583/1070 A/P Gct/Cct 1 1 MIB2 HGNC HGNC:30577 protein_coding YES CCDS41224.2 ENSP00000426103 Q96AX9 UPI0001C0B37A NM_080875.2 deleterious(0.02) probably_damaging(1) 12/20 cd00204,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202 MODERATE 1 SNV 1 1 PASS CGC . . 1627323 PHF13 . GRCh38 chr1 6620009 6620011 + In_Frame_Del DEL GAA GAA - rs773961932 7316-454 BS_RAFVMB92 GAA GAA c.362_364del p.Lys121del p.K121del ENST00000377648 3/4 75 64 5 44 38 0 PHF13,inframe_deletion,p.Lys121del,ENST00000377648,NM_153812.2;THAP3,upstream_gene_variant,,ENST00000054650,NM_001195753.1;PHF13,intron_variant,,ENST00000495385,; - ENSG00000116273 ENST00000377648 Transcript inframe_deletion 730-732/3681 348-350/903 116-117/300 LK/L ctGAAg/ctg rs773961932,COSM1343976 1 1 PHF13 HGNC HGNC:22983 protein_coding YES CCDS85.1 ENSP00000366876 Q86YI8 A0A158RFV6 UPI000013C9BF NM_153812.2 3/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14571:SF13,hmmpanther:PTHR14571 0.01266 0.01164 0,1 MODERATE 1 deletion 1 14 0,1 PASS CTGAAG . . 8.669e-05 9.096e-05 4.536e-05 0.0001276 0.0001859 6.598e-05 6620008 PIK3CD . GRCh38 chr1 9724279 9724279 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.2722T>G p.Phe908Val p.F908V ENST00000377346 22/24 80 61 16 39 38 0 PIK3CD,missense_variant,p.Phe932Val,ENST00000536656,;PIK3CD,missense_variant,p.Phe932Val,ENST00000628140,;PIK3CD,missense_variant,p.Phe908Val,ENST00000377346,NM_005026.3,NM_001350234.1;PIK3CD,missense_variant,p.Phe932Val,ENST00000361110,;PIK3CD,missense_variant,p.Phe932Val,ENST00000543390,;CLSTN1,downstream_gene_variant,,ENST00000361311,NM_014944.4;CLSTN1,downstream_gene_variant,,ENST00000377298,NM_001009566.2,NM_001302883.1;CLSTN1,downstream_gene_variant,,ENST00000435891,;CLSTN1,downstream_gene_variant,,ENST00000477264,; G ENSG00000171608 ENST00000377346 Transcript missense_variant 2917/5203 2722/3135 908/1044 F/V Ttc/Gtc 1 1 PIK3CD HGNC HGNC:8977 protein_coding YES CCDS104.1 ENSP00000366563 O00329 A0A2K8FKV1 UPI000013E807 NM_005026.3,NM_001350234.1 deleterious(0) probably_damaging(0.995) 22/24 PROSITE_profiles:PS50290,cd05174,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,Pfam_domain:PF00454,PIRSF_domain:PIRSF000587,SMART_domains:SM00146,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 1 PASS GTT . . 9724279 IGSF21 . GRCh38 chr1 18376315 18376315 + Missense_Mutation SNP C C A novel 7316-454 BS_RAFVMB92 C C c.1021C>A p.Pro341Thr p.P341T ENST00000251296 7/10 51 26 25 39 39 0 IGSF21,missense_variant,p.Pro341Thr,ENST00000251296,NM_032880.4;IGSF21,non_coding_transcript_exon_variant,,ENST00000412684,;IGSF21,non_coding_transcript_exon_variant,,ENST00000473951,;IGSF21,non_coding_transcript_exon_variant,,ENST00000497331,; A ENSG00000117154 ENST00000251296 Transcript missense_variant 1404/1943 1021/1404 341/467 P/T Ccc/Acc 1 1 IGSF21 HGNC HGNC:28246 protein_coding YES CCDS184.1 ENSP00000251296 Q96ID5 UPI000006FCF2 NM_032880.4 deleterious(0.02) probably_damaging(0.992) 7/10 hmmpanther:PTHR44724,Gene3D:2.60.40.10,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CCC . . 18376315 SZT2 . GRCh38 chr1 43443247 43443247 + Missense_Mutation SNP C C G novel 7316-454 BS_RAFVMB92 C C c.8308C>G p.Pro2770Ala p.P2770A ENST00000562955 59/71 76 49 25 37 36 0 SZT2,missense_variant,p.Pro2770Ala,ENST00000562955,NM_015284.3;SZT2,missense_variant,p.Pro2827Ala,ENST00000634258,;SZT2-AS1,downstream_gene_variant,,ENST00000396885,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,upstream_gene_variant,,ENST00000460536,;SZT2,upstream_gene_variant,,ENST00000638263,;SZT2,upstream_gene_variant,,ENST00000640484,; G ENSG00000198198 ENST00000562955 Transcript missense_variant 8381/13968 8308/10128 2770/3375 P/A Cca/Gca 1 1 SZT2 HGNC HGNC:29040 protein_coding YES CCDS30694.2 ENSP00000457168 Q5T011 UPI0001E24F46 NM_015284.3 tolerated(0.71) benign(0.121) 59/71 hmmpanther:PTHR14918 MODERATE SNV 5 1 PASS CCC . . 43443247 CSDE1 . GRCh38 chr1 114719746 114719746 + Splice_Region DEL A A - rs763087885 7316-454 BS_RAFVMB92 A A c.2191-4del ENST00000610726 62 51 5 46 41 0 CSDE1,splice_region_variant,,ENST00000261443,NM_001242893.1;CSDE1,splice_region_variant,,ENST00000339438,NM_007158.5;CSDE1,splice_region_variant,,ENST00000358528,NM_001007553.2;CSDE1,splice_region_variant,,ENST00000369530,NM_001130523.2;CSDE1,splice_region_variant,,ENST00000438362,;CSDE1,splice_region_variant,,ENST00000530886,;CSDE1,splice_region_variant,,ENST00000534699,NM_001242892.1;CSDE1,splice_region_variant,,ENST00000610726,NM_001242891.1;NRAS,upstream_gene_variant,,ENST00000369535,NM_002524.4;CSDE1,upstream_gene_variant,,ENST00000483407,;CSDE1,downstream_gene_variant,,ENST00000483030,;CSDE1,downstream_gene_variant,,ENST00000530784,; - ENSG00000009307 ENST00000610726 Transcript splice_region_variant,intron_variant rs763087885,COSM4430819,COSM1180689 1 -1 CSDE1 HGNC HGNC:29905 protein_coding YES CCDS55626.1 ENSP00000481762 O75534 UPI0000D99B0F NM_001242891.1 18/20 0,1,1 LOW deletion 5 0,1,1 PASS TGAA . . 0.003714 0.001684 0.004866 0.005628 0.002805 0.004746 0.002925 0.00625 0.006188 114719745 TCHH . GRCh38 chr1 152110024 152110024 + Nonsense_Mutation SNP C C A 7316-454 BS_RAFVMB92 C C c.3193G>T p.Gly1065Ter p.G1065* ENST00000614923 3/3 63 34 7 29 27 0 TCHH,stop_gained,p.Gly1065Ter,ENST00000614923,NM_007113.3;TCHH,stop_gained,p.Gly1065Ter,ENST00000368804,; A ENSG00000159450 ENST00000614923 Transcript stop_gained 3288/6995 3193/5832 1065/1943 G/* Gga/Tga COSM2184241 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 1 HIGH 1 SNV 5 1 1 PASS CCC . . 152110024 FLG2 . GRCh38 chr1 152351413 152351413 + Missense_Mutation SNP T T A 7316-454 BS_RAFVMB92 T T c.6373A>T p.Thr2125Ser p.T2125S ENST00000388718 3/3 114 93 7 51 49 0 FLG2,missense_variant,p.Thr2125Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 6446/9124 6373/7176 2125/2391 T/S Act/Tct COSM6209847 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.36) probably_damaging(0.97) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS GTG . . 152351413 INTS3 . GRCh38 chr1 153773031 153773031 + Missense_Mutation SNP G G A novel 7316-454 BS_RAFVMB92 G G c.3001G>A p.Ala1001Thr p.A1001T ENST00000318967 29/30 98 75 22 35 35 0 INTS3,missense_variant,p.Ala1001Thr,ENST00000318967,NM_023015.3,NM_001324475.1;INTS3,missense_variant,p.Ala1001Thr,ENST00000435409,;INTS3,missense_variant,p.Ala861Thr,ENST00000512605,;SLC27A3,upstream_gene_variant,,ENST00000271857,;SLC27A3,upstream_gene_variant,,ENST00000368661,;SLC27A3,upstream_gene_variant,,ENST00000458027,;SLC27A3,upstream_gene_variant,,ENST00000624995,NM_001317929.1,NM_024330.1;SLC27A3,upstream_gene_variant,,ENST00000484014,;INTS3,3_prime_UTR_variant,,ENST00000476843,;INTS3,3_prime_UTR_variant,,ENST00000503133,;INTS3,non_coding_transcript_exon_variant,,ENST00000481797,;INTS3,non_coding_transcript_exon_variant,,ENST00000368670,;INTS3,non_coding_transcript_exon_variant,,ENST00000368669,;SLC27A3,upstream_gene_variant,,ENST00000461269,;SLC27A3,upstream_gene_variant,,ENST00000468403,;SLC27A3,upstream_gene_variant,,ENST00000483574,;SLC27A3,upstream_gene_variant,,ENST00000531251,;INTS3,upstream_gene_variant,,ENST00000624515,; A ENSG00000143624 ENST00000318967 Transcript missense_variant 3569/5235 3001/3129 1001/1042 A/T Gcc/Acc 1 1 INTS3 HGNC HGNC:26153 protein_coding YES CCDS1052.1 ENSP00000318641 Q68E01 UPI0000231CA8 NM_023015.3,NM_001324475.1 tolerated(0.62) benign(0) 29/30 hmmpanther:PTHR13587,mobidb-lite MODERATE 1 SNV 1 PASS TGC . . 153773031 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 248 223 21 31 31 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 F5 . GRCh38 chr1 169541167 169541167 + Missense_Mutation SNP C C A rs879074638 7316-454 BS_RAFVMB92 C C c.3923G>T p.Ser1308Ile p.S1308I ENST00000367797 13/25 72 56 10 42 38 0 F5,missense_variant,p.Ser1313Ile,ENST00000367796,;F5,missense_variant,p.Ser1308Ile,ENST00000367797,NM_000130.4; A ENSG00000198734 ENST00000367797 Transcript missense_variant 4125/7024 3923/6675 1308/2224 S/I aGt/aTt rs879074638,COSM5567344 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(0.08) benign(0.271) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACT . . 169541167 FAM20B . GRCh38 chr1 179026100 179026100 + Splice_Site SNP T T G novel 7316-454 BS_RAFVMB92 T T c.-134+2T>G ENST00000263733 59 47 7 41 36 0 FAM20B,splice_donor_variant,,ENST00000263733,NM_001324311.1,NM_014864.3,NM_001324310.1;FAM20B,intron_variant,,ENST00000440702,;,regulatory_region_variant,,ENSR00000016406,; G ENSG00000116199 ENST00000263733 Transcript splice_donor_variant 1 1 FAM20B HGNC HGNC:23017 protein_coding YES CCDS1328.1 ENSP00000263733 O75063 A0A024R918 UPI000000DB7F NM_001324311.1,NM_014864.3,NM_001324310.1 1/7 HIGH 1 SNV 1 PASS GTG . . 179026100 ELF3 . GRCh38 chr1 202011171 202011171 + Missense_Mutation SNP G G T novel 7316-454 BS_RAFVMB92 G G c.35G>T p.Ser12Ile p.S12I ENST00000359651 1/8 122 102 20 36 36 0 ELF3,missense_variant,p.Ser12Ile,ENST00000359651,;ELF3,missense_variant,p.Ser12Ile,ENST00000367284,NM_004433.4,NM_001114309.1;ELF3,missense_variant,p.Ser12Ile,ENST00000367283,;ELF3,missense_variant,p.Ser12Ile,ENST00000446188,;ELF3-AS1,upstream_gene_variant,,ENST00000419190,;AL691482.3,upstream_gene_variant,,ENST00000504773,;ELF3,non_coding_transcript_exon_variant,,ENST00000495848,;ELF3,non_coding_transcript_exon_variant,,ENST00000498017,;ELF3,intron_variant,,ENST00000490203,;ELF3,upstream_gene_variant,,ENST00000470384,;ELF3,upstream_gene_variant,,ENST00000475698,;ELF3,upstream_gene_variant,,ENST00000479874,; T ENSG00000163435 ENST00000359651 Transcript missense_variant 3227/4994 35/1116 12/371 S/I aGc/aTc 1 1 ELF3 HGNC HGNC:3318 protein_coding YES CCDS1419.1 ENSP00000352673 P78545 A0A024R974 UPI0000034E32 deleterious(0) possibly_damaging(0.669) 1/8 hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF13 MODERATE 1 SNV 1 1 PASS AGC . . 202011171 ENAH . GRCh38 chr1 225512695 225512695 + Missense_Mutation SNP C C G novel 7316-454 BS_RAFVMB92 C C c.1384G>C p.Gly462Arg p.G462R ENST00000366844 9/15 93 85 8 45 45 0 ENAH,missense_variant,p.Gly462Arg,ENST00000366844,NM_001008493.1;ENAH,missense_variant,p.Gly694Arg,ENST00000635051,;ENAH,missense_variant,p.Gly462Arg,ENST00000366843,NM_018212.4;ENAH,upstream_gene_variant,,ENST00000483952,;ENAH,non_coding_transcript_exon_variant,,ENST00000358675,; G ENSG00000154380 ENST00000366844 Transcript missense_variant 1836/13168 1384/1776 462/591 G/R Gga/Cga 1 -1 ENAH HGNC HGNC:18271 protein_coding YES CCDS31041.1 ENSP00000355809 Q8N8S7 UPI0000203FDB NM_001008493.1 deleterious(0) probably_damaging(0.973) 9/15 Gene3D:2.130.10.10,hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF1,mobidb-lite MODERATE 1 SNV 1 PASS CCC . . 225512695 B3GALNT2 . GRCh38 chr1 235484315 235484315 + Splice_Region SNP T G G rs291387 7316-454 BS_RAFVMB92 T T c.555+7A>C ENST00000366600 98 15 82 28 21 6 B3GALNT2,splice_region_variant,,ENST00000313984,NM_001277155.2;B3GALNT2,splice_region_variant,,ENST00000366600,NM_152490.4;B3GALNT2,splice_region_variant,,ENST00000494378,;B3GALNT2,splice_region_variant,,ENST00000461994,;B3GALNT2,splice_region_variant,,ENST00000612859,; G ENSG00000162885 ENST00000366600 Transcript splice_region_variant,intron_variant rs291387 1 -1 B3GALNT2 HGNC HGNC:28596 protein_coding YES CCDS1606.1 ENSP00000355559 Q8NCR0 UPI0000071B30 NM_152490.4 4/11 0.3217 0.4107 0.2896 0.1597 0.4871 0.2209 LOW 1 SNV 1 1 PASS GTG . . 235484315 COX20 . GRCh38 chr1 244835747 244835747 + Missense_Mutation SNP G G T novel 7316-454 BS_RAFVMB92 G G c.33G>T p.Glu11Asp p.E11D ENST00000366528 1/5 185 139 35 22 21 0 COX20,missense_variant,p.Glu11Asp,ENST00000411948,NM_001312873.1,NM_001312874.1,NM_198076.5,NM_001312871.1;COX20,missense_variant,p.Glu11Asp,ENST00000366528,NM_001312872.1;COX20,non_coding_transcript_exon_variant,,ENST00000498262,;COX20,non_coding_transcript_exon_variant,,ENST00000391839,;HNRNPU,downstream_gene_variant,,ENST00000366527,;COX20,upstream_gene_variant,,ENST00000464757,;HNRNPU,downstream_gene_variant,,ENST00000475997,;,regulatory_region_variant,,ENSR00000022952,; T ENSG00000203667 ENST00000366528 Transcript missense_variant 132/568 33/393 11/130 E/D gaG/gaT 1 1 COX20 HGNC HGNC:26970 protein_coding YES CCDS81434.1 ENSP00000355486 Q5RI15 UPI00001D7E54 NM_001312872.1 tolerated_low_confidence(0.46) benign(0) 1/5 Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS AGG . . 244835747 OR11L1 . GRCh38 chr1 247840936 247840936 + Missense_Mutation SNP G G T novel 7316-454 BS_RAFVMB92 G G c.961C>A p.Leu321Ile p.L321I ENST00000355784 1/1 79 54 25 50 49 0 OR11L1,missense_variant,p.Leu321Ile,ENST00000355784,NM_001001959.1; T ENSG00000197591 ENST00000355784 Transcript missense_variant 961/969 961/969 321/322 L/I Ctt/Att 1 -1 OR11L1 HGNC HGNC:14998 protein_coding YES CCDS31098.1 ENSP00000348033 Q8NGX0 UPI0000061EBC NM_001001959.1 tolerated_low_confidence(0.54) benign(0) 1/1 MODERATE 1 SNV PASS AGG . . 247840936 C2orf16 . GRCh38 chr2 27581740 27581740 + Missense_Mutation SNP G G T novel 7316-454 BS_RAFVMB92 G G c.5168G>T p.Arg1723Leu p.R1723L ENST00000408964 1/1 82 61 10 45 42 0 C2orf16,missense_variant,p.Arg5127Leu,ENST00000447166,;C2orf16,missense_variant,p.Arg1723Leu,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; T ENSG00000221843 ENST00000408964 Transcript missense_variant 5219/6200 5168/5955 1723/1984 R/L cGg/cTg 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(0.07) benign(0.06) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS CGG . . 27581740 CCDC74A . GRCh38 chr2 131530743 131530743 + Missense_Mutation SNP G G C rs1288980239 7316-454 BS_RAFVMB92 G G c.460G>C p.Gly154Arg p.G154R ENST00000295171 3/8 88 68 19 29 28 0 CCDC74A,missense_variant,p.Gly154Arg,ENST00000295171,NM_001258304.1,NM_138770.2;CCDC74A,missense_variant,p.Gly154Arg,ENST00000467992,NM_001258305.1;CCDC74A,intron_variant,,ENST00000409856,NM_001258306.1;CCDC74A,intron_variant,,ENST00000434330,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,3_prime_UTR_variant,,ENST00000454549,;CCDC74A,downstream_gene_variant,,ENST00000465939,;CCDC74A,downstream_gene_variant,,ENST00000468650,;MED15P4,downstream_gene_variant,,ENST00000417579,; C ENSG00000163040 ENST00000295171 Transcript missense_variant 598/1543 460/1137 154/378 G/R Ggc/Cgc rs1288980239,COSM6087563,COSM6087562 1 1 CCDC74A HGNC HGNC:25197 protein_coding YES CCDS2167.1 ENSP00000295171 Q96AQ1 UPI000006E43A NM_001258304.1,NM_138770.2 tolerated(0.53) benign(0.163) 3/8 Gene3D:1.20.5.170,hmmpanther:PTHR14882,hmmpanther:PTHR14882:SF5,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGG . . 131530743 FEV . GRCh38 chr2 218981849 218981849 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.535A>C p.Asn179His p.N179H ENST00000295727 3/3 99 86 6 26 25 0 FEV,missense_variant,p.Asn179His,ENST00000295727,NM_017521.2;LINC00608,intron_variant,,ENST00000627043,;LINC00608,downstream_gene_variant,,ENST00000419101,;LINC00608,downstream_gene_variant,,ENST00000432733,;LINC00608,downstream_gene_variant,,ENST00000626251,;LINC00608,downstream_gene_variant,,ENST00000628185,;FEV,downstream_gene_variant,,ENST00000470119,;,regulatory_region_variant,,ENSR00000130484,; G ENSG00000163497 ENST00000295727 Transcript missense_variant 1117/1879 535/717 179/238 N/H Aac/Cac 1 -1 FEV HGNC HGNC:18562 protein_coding YES CCDS2428.1 ENSP00000295727 Q99581 UPI0000073C40 NM_017521.2 deleterious(0) possibly_damaging(0.675) 3/3 hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF203 MODERATE 1 SNV 1 1 PASS TTG . . 218981849 SPEG . GRCh38 chr2 219489811 219489811 + Missense_Mutation SNP C C A novel 7316-454 BS_RAFVMB92 C C c.8793C>A p.Ser2931Arg p.S2931R ENST00000312358 36/41 100 69 31 34 34 0 SPEG,missense_variant,p.Ser2931Arg,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000412982,;AC053503.1,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,; A ENSG00000072195 ENST00000312358 Transcript missense_variant 8925/10782 8793/9804 2931/3267 S/R agC/agA 1 1 SPEG HGNC HGNC:16901 protein_coding YES CCDS42824.1 ENSP00000311684 Q15772 UPI000066D99E NM_005876.4 deleterious(0.03) benign(0.11) 36/41 hmmpanther:PTHR45065,mobidb-lite MODERATE SNV 5 1 PASS GCC . . 219489811 ERFE . GRCh38 chr2 238163917 238163917 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.605T>G p.Val202Gly p.V202G ENST00000546354 4/8 103 90 9 26 26 0 ERFE,missense_variant,p.Val202Gly,ENST00000546354,NM_001291832.1;ERFE,upstream_gene_variant,,ENST00000344233,;ERFE,upstream_gene_variant,,ENST00000357303,;ERFE,non_coding_transcript_exon_variant,,ENST00000486834,;ERFE,non_coding_transcript_exon_variant,,ENST00000481917,;ERFE,upstream_gene_variant,,ENST00000473274,;ERFE,upstream_gene_variant,,ENST00000479091,;,regulatory_region_variant,,ENSR00000132792,; G ENSG00000178752 ENST00000546354 Transcript missense_variant 605/1065 605/1065 202/354 V/G gTg/gGg 1 1 ERFE HGNC HGNC:26727 protein_coding YES CCDS77548.1 ENSP00000442304 Q4G0M1 UPI0000F07B77 NM_001291832.1 deleterious(0) probably_damaging(0.977) 4/8 PROSITE_profiles:PS50871,hmmpanther:PTHR24019,hmmpanther:PTHR24019:SF11,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 238163917 GAL3ST2 . GRCh38 chr2 241803771 241803771 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.802A>C p.Thr268Pro p.T268P ENST00000192314 4/4 118 106 11 42 41 0 GAL3ST2,missense_variant,p.Thr268Pro,ENST00000192314,NM_022134.2;AC131097.3,downstream_gene_variant,,ENST00000413820,;AC131097.1,upstream_gene_variant,,ENST00000437438,;,regulatory_region_variant,,ENSR00000133335,; C ENSG00000154252 ENST00000192314 Transcript missense_variant 933/1370 802/1197 268/398 T/P Acc/Ccc 1 1 GAL3ST2 HGNC HGNC:24869 protein_coding YES CCDS33427.1 ENSP00000192314 Q9H3Q3 UPI000049DF44 NM_022134.2 tolerated(0.09) possibly_damaging(0.828) 4/4 hmmpanther:PTHR14647:SF55,hmmpanther:PTHR14647,Gene3D:3.40.50.300,Pfam_domain:PF06990 MODERATE 1 SNV 1 PASS GAC . . 241803771 RBM15B . GRCh38 chr3 51391545 51391545 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.146T>G p.Val49Gly p.V49G ENST00000563281 1/1 149 131 10 48 47 0 RBM15B,missense_variant,p.Val49Gly,ENST00000563281,NM_013286.4;DCAF1,downstream_gene_variant,,ENST00000423656,NM_014703.2;DCAF1,downstream_gene_variant,,ENST00000504652,NM_001171904.1;MANF,downstream_gene_variant,,ENST00000528157,NM_006010.5;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;,regulatory_region_variant,,ENSR00000152421,; G ENSG00000259956 ENST00000563281 Transcript missense_variant 278/6641 146/2673 49/890 V/G gTt/gGt 1 1 RBM15B HGNC HGNC:24303 protein_coding YES CCDS33764.1 ENSP00000454545 Q8NDT2 UPI0000160BDE NM_013286.4 deleterious_low_confidence(0.01) benign(0.012) 1/1 Gene3D:3.30.70.330,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF40,mobidb-lite MODERATE SNV PASS GTT . . 51391545 MITF . GRCh38 chr3 69956454 69956454 + Splice_Site SNP G G A rs1057519327 7316-454 BS_RAFVMB92 G G c.938-1G>A p.X313_splice ENST00000352241 74 53 21 48 48 0 MITF,splice_acceptor_variant,,ENST00000314557,NM_198158.2;MITF,splice_acceptor_variant,,ENST00000314589,NM_198177.2;MITF,splice_acceptor_variant,,ENST00000328528,NM_006722.2,NM_001354607.1,NM_001354608.1;MITF,splice_acceptor_variant,,ENST00000352241,NM_198159.2,NM_001354605.1,NM_001354606.1,NM_001354604.1;MITF,splice_acceptor_variant,,ENST00000394351,NM_000248.3;MITF,splice_acceptor_variant,,ENST00000448226,;MITF,splice_acceptor_variant,,ENST00000451708,;MITF,splice_acceptor_variant,,ENST00000472437,NM_001184967.1;MITF,splice_acceptor_variant,,ENST00000531774,NM_198178.2;MITF,splice_acceptor_variant,,ENST00000642352,;MITF,splice_acceptor_variant,,ENST00000478490,; A ENSG00000187098 ENST00000352241 Transcript splice_acceptor_variant rs1057519327 1 1 MITF HGNC HGNC:7105 protein_coding YES CCDS43106.1 ENSP00000295600 O75030 UPI000002ADF8 NM_198159.2,NM_001354605.1,NM_001354606.1,NM_001354604.1 7/9 pathogenic HIGH 1 SNV 1 1 1 PASS AGT . . 69956454 MUC20 . GRCh38 chr3 195726001 195726001 + Missense_Mutation SNP A A C rs554198408 7316-454 BS_RAFVMB92 A A c.1398A>C p.Glu466Asp p.E466D ENST00000447234 2/4 92 76 16 44 43 0 MUC20,missense_variant,p.Glu431Asp,ENST00000445522,;MUC20,missense_variant,p.Glu466Asp,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Glu466Asp,ENST00000436408,;MUC20,missense_variant,p.Glu295Asp,ENST00000320736,;MUC20,upstream_gene_variant,,ENST00000423938,;MUC20-OT1,intron_variant,,ENST00000594446,;MUC20-OT1,intron_variant,,ENST00000595086,;MUC20-OT1,intron_variant,,ENST00000597662,;MUC20-OT1,intron_variant,,ENST00000600197,;MUC20-OT1,intron_variant,,ENST00000626093,;MUC20-OT1,intron_variant,,ENST00000627035,;MUC20-OT1,intron_variant,,ENST00000627297,;MUC20-OT1,intron_variant,,ENST00000627993,;MUC20-OT1,intron_variant,,ENST00000628125,;MUC20-OT1,intron_variant,,ENST00000628392,;MUC20-OT1,intron_variant,,ENST00000628982,;MUC20-OT1,intron_variant,,ENST00000629537,;MUC20-OT1,intron_variant,,ENST00000629721,;MUC20-OT1,intron_variant,,ENST00000629807,;MUC20-OT1,intron_variant,,ENST00000631359,;MUC20-OT1,downstream_gene_variant,,ENST00000432194,;MUC20-OT1,downstream_gene_variant,,ENST00000455807,;MUC20-OT1,downstream_gene_variant,,ENST00000594976,;MUC20-OT1,downstream_gene_variant,,ENST00000599566,;MUC20-OT1,downstream_gene_variant,,ENST00000600288,;MUC20-OT1,downstream_gene_variant,,ENST00000612098,;MUC20-OT1,downstream_gene_variant,,ENST00000625383,;MUC20-OT1,downstream_gene_variant,,ENST00000625531,;MUC20-OT1,downstream_gene_variant,,ENST00000625665,;MUC20-OT1,downstream_gene_variant,,ENST00000626566,;MUC20-OT1,downstream_gene_variant,,ENST00000626852,;MUC20-OT1,downstream_gene_variant,,ENST00000626872,;MUC20-OT1,downstream_gene_variant,,ENST00000626979,;MUC20-OT1,downstream_gene_variant,,ENST00000627471,;MUC20-OT1,downstream_gene_variant,,ENST00000627609,;MUC20-OT1,downstream_gene_variant,,ENST00000630197,;MUC20-OT1,downstream_gene_variant,,ENST00000630874,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,upstream_gene_variant,,ENST00000498018,; C ENSG00000176945 ENST00000447234 Transcript missense_variant 1524/2589 1398/2130 466/709 E/D gaA/gaC rs554198408,COSM4596530 1 1 MUC20 HGNC HGNC:23282 protein_coding YES CCDS63877.1 ENSP00000414350 Q8N307 UPI000198CC5A NM_001282506.1 tolerated(0.21) benign(0.018) 2/4 mobidb-lite,hmmpanther:PTHR37358 0.0016 0.0008 0.0072 0,1 MODERATE 1 SNV 5 0,1 PASS AAG . . 0.0004719 0.0001319 0.000121 0.0002338 8.982e-05 5.406e-05 0.0003698 0.003177 195726001 MUC20 . GRCh38 chr3 195726002 195726002 + Missense_Mutation SNP G G A rs572650436 7316-454 BS_RAFVMB92 G G c.1399G>A p.Ala467Thr p.A467T ENST00000447234 2/4 93 77 15 44 43 0 MUC20,missense_variant,p.Ala432Thr,ENST00000445522,;MUC20,missense_variant,p.Ala467Thr,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Ala467Thr,ENST00000436408,;MUC20,missense_variant,p.Ala296Thr,ENST00000320736,;MUC20,upstream_gene_variant,,ENST00000423938,;MUC20-OT1,intron_variant,,ENST00000594446,;MUC20-OT1,intron_variant,,ENST00000595086,;MUC20-OT1,intron_variant,,ENST00000597662,;MUC20-OT1,intron_variant,,ENST00000600197,;MUC20-OT1,intron_variant,,ENST00000626093,;MUC20-OT1,intron_variant,,ENST00000627035,;MUC20-OT1,intron_variant,,ENST00000627297,;MUC20-OT1,intron_variant,,ENST00000627993,;MUC20-OT1,intron_variant,,ENST00000628125,;MUC20-OT1,intron_variant,,ENST00000628392,;MUC20-OT1,intron_variant,,ENST00000628982,;MUC20-OT1,intron_variant,,ENST00000629537,;MUC20-OT1,intron_variant,,ENST00000629721,;MUC20-OT1,intron_variant,,ENST00000629807,;MUC20-OT1,intron_variant,,ENST00000631359,;MUC20-OT1,downstream_gene_variant,,ENST00000432194,;MUC20-OT1,downstream_gene_variant,,ENST00000455807,;MUC20-OT1,downstream_gene_variant,,ENST00000594976,;MUC20-OT1,downstream_gene_variant,,ENST00000599566,;MUC20-OT1,downstream_gene_variant,,ENST00000600288,;MUC20-OT1,downstream_gene_variant,,ENST00000612098,;MUC20-OT1,downstream_gene_variant,,ENST00000625383,;MUC20-OT1,downstream_gene_variant,,ENST00000625531,;MUC20-OT1,downstream_gene_variant,,ENST00000625665,;MUC20-OT1,downstream_gene_variant,,ENST00000626566,;MUC20-OT1,downstream_gene_variant,,ENST00000626852,;MUC20-OT1,downstream_gene_variant,,ENST00000626872,;MUC20-OT1,downstream_gene_variant,,ENST00000626979,;MUC20-OT1,downstream_gene_variant,,ENST00000627471,;MUC20-OT1,downstream_gene_variant,,ENST00000627609,;MUC20-OT1,downstream_gene_variant,,ENST00000630197,;MUC20-OT1,downstream_gene_variant,,ENST00000630874,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,upstream_gene_variant,,ENST00000498018,; A ENSG00000176945 ENST00000447234 Transcript missense_variant 1525/2589 1399/2130 467/709 A/T Gca/Aca rs572650436,COSM4597003 1 1 MUC20 HGNC HGNC:23282 protein_coding YES CCDS63877.1 ENSP00000414350 Q8N307 UPI000198CC5A NM_001282506.1 tolerated(0.07) possibly_damaging(0.785) 2/4 mobidb-lite,hmmpanther:PTHR37358 0.0016 0.0008 0.0072 0,1 MODERATE 1 SNV 5 0,1 PASS AGC . . 0.0004804 0.0001319 0.0001514 0.000234 8.982e-05 3.607e-05 0.0005551 0.003244 195726002 MUC4 . GRCh38 chr3 195781316 195781316 + Missense_Mutation SNP C C A novel 7316-454 BS_RAFVMB92 C C c.10264G>T p.Ala3422Ser p.A3422S ENST00000463781 2/25 120 96 8 83 77 0 MUC4,missense_variant,p.Ala3422Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3422Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3422Ser,ENST00000478156,;MUC4,missense_variant,p.Ala3422Ser,ENST00000466475,;MUC4,missense_variant,p.Ala3422Ser,ENST00000477756,;MUC4,missense_variant,p.Ala3422Ser,ENST00000477086,;MUC4,missense_variant,p.Ala3422Ser,ENST00000480843,;MUC4,missense_variant,p.Ala3422Ser,ENST00000462323,;MUC4,missense_variant,p.Ala3422Ser,ENST00000470451,;MUC4,missense_variant,p.Ala3422Ser,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 10724/17110 10264/16239 3422/5412 A/S Gcc/Tcc 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.51) benign(0.374) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS GCG . . 195781316 MUC4 . GRCh38 chr3 195784025 195784025 + Missense_Mutation SNP G G T 7316-454 BS_RAFVMB92 G G c.7555C>A p.Pro2519Thr p.P2519T ENST00000463781 2/25 102 70 9 94 80 0 MUC4,missense_variant,p.Pro2519Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2519Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2519Thr,ENST00000478156,;MUC4,missense_variant,p.Pro2519Thr,ENST00000466475,;MUC4,missense_variant,p.Pro2519Thr,ENST00000477756,;MUC4,missense_variant,p.Pro2519Thr,ENST00000477086,;MUC4,missense_variant,p.Pro2519Thr,ENST00000480843,;MUC4,missense_variant,p.Pro2519Thr,ENST00000462323,;MUC4,missense_variant,p.Pro2519Thr,ENST00000470451,;MUC4,missense_variant,p.Pro2519Thr,ENST00000479406,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 8015/17110 7555/16239 2519/5412 P/T Ccc/Acc COSM2945417 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.05) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS GGA . . 195784025 SMARCA5 . GRCh38 chr4 143514072 143514072 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.148A>C p.Ser50Arg p.S50R ENST00000283131 1/24 110 90 14 31 30 0 SMARCA5,missense_variant,p.Ser50Arg,ENST00000283131,NM_003601.3;SMARCA5-AS1,non_coding_transcript_exon_variant,,ENST00000500800,;,regulatory_region_variant,,ENSR00000174152,; C ENSG00000153147 ENST00000283131 Transcript missense_variant 610/7923 148/3159 50/1052 S/R Agc/Cgc 1 1 SMARCA5 HGNC HGNC:11101 protein_coding YES CCDS3761.1 ENSP00000283131 O60264 UPI000006E693 NM_003601.3 tolerated(0.54) benign(0) 1/24 hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF887,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAG . . 143514072 C5orf66-AS1 . GRCh38 chr5 135039594 135039595 + Splice_Site INS - - C novel 7316-454 BS_RAFVMB92 - - n.452+1dup ENST00000507035 85 46 33 35 35 0 PITX1,upstream_gene_variant,,ENST00000502676,;PITX1,upstream_gene_variant,,ENST00000506438,;PITX1,upstream_gene_variant,,ENST00000507253,;C5orf66-AS1,splice_donor_variant,,ENST00000507035,;C5orf66-AS1,splice_region_variant,,ENST00000511256,;C5orf66,intron_variant,,ENST00000505828,;C5orf66,intron_variant,,ENST00000507641,;C5orf66,intron_variant,,ENST00000624272,NM_001277348.1;AC008406.3,downstream_gene_variant,,ENST00000620001,;,regulatory_region_variant,,ENSR00000187138,; C ENSG00000249082 ENST00000507035 Transcript splice_donor_variant,non_coding_transcript_variant 1 -1 C5orf66-AS1 HGNC HGNC:49679 lincRNA YES 1/1 HIGH 1 insertion 2 PASS TAC . . 135039594 MAML1 . GRCh38 chr5 179771227 179771227 + Missense_Mutation SNP G G T novel 7316-454 BS_RAFVMB92 G G c.2052G>T p.Gln684His p.Q684H ENST00000292599 4/5 47 27 20 43 43 0 MAML1,missense_variant,p.Gln684His,ENST00000292599,NM_014757.4;MAML1,non_coding_transcript_exon_variant,,ENST00000511027,;MAML1,non_coding_transcript_exon_variant,,ENST00000507385,; T ENSG00000161021 ENST00000292599 Transcript missense_variant 2315/5723 2052/3051 684/1016 Q/H caG/caT 1 1 MAML1 HGNC HGNC:13632 protein_coding YES CCDS34315.1 ENSP00000292599 Q92585 UPI0000071286 NM_014757.4 deleterious(0) possibly_damaging(0.57) 4/5 hmmpanther:PTHR15692:SF19,hmmpanther:PTHR15692 MODERATE 1 SNV 1 PASS AGG . . 179771227 HFE . GRCh38 chr6 26087457 26087457 + Missense_Mutation SNP G G A novel 7316-454 BS_RAFVMB92 G G c.17G>A p.Arg6Lys p.R6K ENST00000357618 1/6 69 41 26 50 50 0 HFE,missense_variant,p.Arg6Lys,ENST00000357618,NM_000410.3;HFE,missense_variant,p.Arg6Lys,ENST00000317896,NM_139004.2;HFE,missense_variant,p.Arg6Lys,ENST00000349999,NM_139007.2;HFE,missense_variant,p.Arg6Lys,ENST00000397022,NM_139009.2;HFE,missense_variant,p.Arg6Lys,ENST00000309234,NM_001300749.1;HFE,missense_variant,p.Arg6Lys,ENST00000470149,;HFE,missense_variant,p.Arg6Lys,ENST00000461397,NM_139006.2;HFE,missense_variant,p.Arg6Lys,ENST00000353147,NM_139010.2;HFE,missense_variant,p.Arg6Lys,ENST00000336625,NM_139003.2;HFE,missense_variant,p.Arg6Lys,ENST00000488199,NM_139008.2;HFE,missense_variant,p.Arg6Lys,ENST00000352392,NM_139011.2;HFE,non_coding_transcript_exon_variant,,ENST00000483782,;HFE,non_coding_transcript_exon_variant,,ENST00000486147,;,regulatory_region_variant,,ENSR00000194982,; A ENSG00000010704 ENST00000357618 Transcript missense_variant 139/5286 17/1047 6/348 R/K aGg/aAg 1 1 HFE HGNC HGNC:4886 protein_coding YES CCDS4578.1 ENSP00000417404 Q30201 UPI0000001700 NM_000410.3 tolerated(1) benign(0.015) 1/6 hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF172,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS AGG . . 26087457 MDC1 . GRCh38 chr6 30704352 30704352 + Missense_Mutation SNP G G T rs1213201757 7316-454 BS_RAFVMB92 G G c.4831C>A p.Pro1611Thr p.P1611T ENST00000376406 10/15 47 35 8 51 50 0 MDC1,missense_variant,p.Pro1611Thr,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 5479/7576 4831/6270 1611/2089 P/T Cca/Aca rs1213201757 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 deleterious(0.03) possibly_damaging(0.784) 10/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GGC . . 30704352 KCNQ5 . GRCh38 chr6 72622203 72622203 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.14A>C p.His5Pro p.H5P ENST00000342056 1/15 91 77 13 43 43 0 KCNQ5,missense_variant,p.His5Pro,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,missense_variant,p.His5Pro,ENST00000355635,;KCNQ5,missense_variant,p.His5Pro,ENST00000402622,;KCNQ5,missense_variant,p.His5Pro,ENST00000355194,;KCNQ5,missense_variant,p.His5Pro,ENST00000403813,;KCNQ5,missense_variant,p.His5Pro,ENST00000370398,NM_019842.3;KCNQ5,missense_variant,p.His5Pro,ENST00000414165,;KCNQ5,missense_variant,p.His5Pro,ENST00000628967,NM_001160134.1;KCNQ5,missense_variant,p.His5Pro,ENST00000629977,NM_001160130.1;KCNQ5,missense_variant,p.His5Pro,ENST00000370392,;,regulatory_region_variant,,ENSR00000321416,; C ENSG00000185760 ENST00000342056 Transcript missense_variant 412/6688 14/2856 5/951 H/P cAc/cCc 1 1 KCNQ5 HGNC HGNC:6299 protein_coding YES CCDS55034.1 ENSP00000345055 Q9NR82 UPI000155D644 NM_001160132.1,NM_001160133.1 deleterious_low_confidence(0) benign(0) 1/15 MODERATE 1 SNV 5 1 PASS CAC . . 72622203 GRM1 . GRCh38 chr6 146030025 146030025 + Nonsense_Mutation SNP C C T novel 7316-454 BS_RAFVMB92 C C c.508C>T p.Gln170Ter p.Q170* ENST00000361719 2/9 61 31 29 33 33 0 GRM1,stop_gained,p.Gln170Ter,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,stop_gained,p.Gln170Ter,ENST00000361719,;GRM1,stop_gained,p.Gln170Ter,ENST00000282753,NM_001278064.1;GRM1,stop_gained,p.Gln170Ter,ENST00000355289,NM_001278067.1;GRM1,stop_gained,p.Gln170Ter,ENST00000507907,;GRM1,non_coding_transcript_exon_variant,,ENST00000502405,;GRM1,non_coding_transcript_exon_variant,,ENST00000507005,;,regulatory_region_variant,,ENSR00000323577,; T ENSG00000152822 ENST00000361719 Transcript stop_gained 875/6754 508/3585 170/1194 Q/* Caa/Taa 1 1 GRM1 HGNC HGNC:4593 protein_coding YES CCDS5209.1 ENSP00000354896 Q13255 UPI000013DCFD 2/9 cd06374,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF29,Prints_domain:PR00248 HIGH 1 SNV 5 1 PASS TCA . . 146030025 GRM1 . GRCh38 chr6 146030205 146030205 + Missense_Mutation SNP G G C novel 7316-454 BS_RAFVMB92 G G c.688G>C p.Val230Leu p.V230L ENST00000361719 2/9 63 31 31 42 41 0 GRM1,missense_variant,p.Val230Leu,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,missense_variant,p.Val230Leu,ENST00000361719,;GRM1,missense_variant,p.Val230Leu,ENST00000282753,NM_001278064.1;GRM1,missense_variant,p.Val230Leu,ENST00000355289,NM_001278067.1;GRM1,missense_variant,p.Val230Leu,ENST00000507907,;GRM1,non_coding_transcript_exon_variant,,ENST00000502405,;GRM1,non_coding_transcript_exon_variant,,ENST00000507005,;,regulatory_region_variant,,ENSR00000323577,; C ENSG00000152822 ENST00000361719 Transcript missense_variant 1055/6754 688/3585 230/1194 V/L Gtc/Ctc 1 1 GRM1 HGNC HGNC:4593 protein_coding YES CCDS5209.1 ENSP00000354896 Q13255 UPI000013DCFD tolerated(0.13) benign(0.377) 2/9 cd06374,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF29,Prints_domain:PR00248 MODERATE 1 SNV 5 1 PASS AGT . . 146030205 HNRNPA2B1 . GRCh38 chr7 26197857 26197861 + Frame_Shift_Del DEL CTAAA CTAAA - novel 7316-454 BS_RAFVMB92 CTAAA CTAAA c.12_16del p.Leu5AsnfsTer16 p.L5Nfs*16 ENST00000354667 2/12 96 67 29 39 39 0 HNRNPA2B1,frameshift_variant,p.Leu5AsnfsTer16,ENST00000354667,NM_031243.2;HNRNPA2B1,frameshift_variant,p.Leu5AsnfsTer16,ENST00000618183,;HNRNPA2B1,intron_variant,,ENST00000356674,NM_002137.3;CBX3,upstream_gene_variant,,ENST00000337620,NM_007276.4;CBX3,upstream_gene_variant,,ENST00000396386,NM_016587.3;CBX3,upstream_gene_variant,,ENST00000409747,;CBX3,upstream_gene_variant,,ENST00000456948,;CBX3,upstream_gene_variant,,ENST00000497498,;HNRNPA2B1,frameshift_variant,p.Leu5AsnfsTer16,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,upstream_gene_variant,,ENST00000495810,;,regulatory_region_variant,,ENSR00000209748,; - ENSG00000122566 ENST00000354667 Transcript frameshift_variant 181-185/3664 12-16/1062 4-6/353 TLE/TX acTTTAGaa/acaa 1 -1 HNRNPA2B1 HGNC HGNC:5033 protein_coding YES CCDS43557.1 ENSP00000346694 P22626 UPI000002F091 NM_031243.2 2/12 hmmpanther:PTHR44531,Gene3D:3.30.70.330 HIGH 1 deletion 1 1 PASS TTCTAAAG . . 26197856 ZNRF2 . GRCh38 chr7 30285818 30285818 + Missense_Mutation SNP T T G rs772751188 7316-454 BS_RAFVMB92 T T c.461T>G p.Met154Arg p.M154R ENST00000323037 1/5 85 74 9 29 29 0 ZNRF2,missense_variant,p.Met154Arg,ENST00000323037,NM_147128.3;MIR550A1,upstream_gene_variant,,ENST00000385037,;MIR550B1,downstream_gene_variant,,ENST00000637270,;ZNRF2,non_coding_transcript_exon_variant,,ENST00000459998,;,regulatory_region_variant,,ENSR00000210338,; G ENSG00000180233 ENST00000323037 Transcript missense_variant 1512/3460 461/729 154/242 M/R aTg/aGg rs772751188 1 1 ZNRF2 HGNC HGNC:22316 protein_coding YES CCDS5426.1 ENSP00000323879 Q8NHG8 A0A090N8Y8 UPI000006DDF0 NM_147128.3 deleterious(0) benign(0.001) 1/5 hmmpanther:PTHR45045 MODERATE 1 SNV 1 PASS ATG . . 7.019e-06 5.584e-05 30285818 LSM5 . GRCh38 chr7 32487762 32487785 + Splice_Region DEL ATGAATAGATAAAATACAGTCAGG ATGAATAGATAAAATACAGTCAGG - novel 7316-454 BS_RAFVMB92 ATGAATAGATAAAATACAGTCAGG ATGAATAGATAAAATACAGTCAGG c.171-28_171-5del ENST00000450169 83 62 21 55 55 0 LSM5,splice_region_variant,,ENST00000409292,;LSM5,splice_region_variant,,ENST00000409782,;LSM5,splice_region_variant,,ENST00000409909,NM_001130710.1;LSM5,splice_region_variant,,ENST00000409952,NM_001139499.1;LSM5,splice_region_variant,,ENST00000409987,;LSM5,splice_region_variant,,ENST00000410044,;LSM5,splice_region_variant,,ENST00000450169,NM_012322.2;LSM5,splice_region_variant,,ENST00000223084,;LSM5,non_coding_transcript_exon_variant,,ENST00000480956,;LSM5,non_coding_transcript_exon_variant,,ENST00000468872,; - ENSG00000106355 ENST00000450169 Transcript splice_region_variant,intron_variant 1 -1 LSM5 HGNC HGNC:17162 protein_coding YES CCDS5438.1 ENSP00000410758 Q9Y4Y9 A0A090N8Y5 UPI0000003ED3 NM_012322.2 3/4 LOW 1 deletion 1 PASS AAATGAATAGATAAAATACAGTCAGGA . . 32487761 MUC17 . GRCh38 chr7 101038666 101038666 + Missense_Mutation SNP A A T rs139220229 7316-454 BS_RAFVMB92 A A c.7250A>T p.His2417Leu p.H2417L ENST00000306151 3/13 86 73 10 37 37 0 MUC17,missense_variant,p.His2417Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.His2417Leu,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 7314/14247 7250/13482 2417/4493 H/L cAt/cTt rs139220229,COSM4161663 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 1.736e-05 0.0001985 9.3e-06 101038666 MUC17 . GRCh38 chr7 101039898 101039898 + Missense_Mutation SNP G G A rs769140119 7316-454 BS_RAFVMB92 G G c.8482G>A p.Gly2828Ser p.G2828S ENST00000306151 3/13 94 77 8 44 39 1 MUC17,missense_variant,p.Gly2828Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2828Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 8546/14247 8482/13482 2828/4493 G/S Ggc/Agc rs769140119,COSM3703090 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) probably_damaging(0.934) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS TGG . . 0.0002097 0.0001573 0.0002706 0.0001073 0.0003597 0.0001835 0.0006168 0.0003191 101039898 MUC17 . GRCh38 chr7 101040240 101040240 + Missense_Mutation SNP G G T 7316-454 BS_RAFVMB92 G G c.8824G>T p.Gly2942Cys p.G2942C ENST00000306151 3/13 61 45 8 59 57 0 MUC17,missense_variant,p.Gly2942Cys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2942Cys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 8888/14247 8824/13482 2942/4493 G/C Ggt/Tgt COSM743546 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.01) probably_damaging(0.921) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS CGG . . 101040240 MUC17 . GRCh38 chr7 101041333 101041333 + Missense_Mutation SNP C C T rs778418183 7316-454 BS_RAFVMB92 C C c.9917C>T p.Ala3306Val p.A3306V ENST00000306151 3/13 79 68 7 60 60 0 MUC17,missense_variant,p.Ala3306Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala3306Val,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 9981/14247 9917/13482 3306/4493 A/V gCt/gTt rs778418183 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.046) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCT . . 4.133e-06 9.029e-06 101041333 NRCAM . GRCh38 chr7 108176440 108176445 + In_Frame_Del DEL AGTTGT AGTTGT - novel 7316-454 BS_RAFVMB92 AGTTGT AGTTGT c.3136_3141del p.Thr1046_Thr1047del p.T1046_T1047del ENST00000379028 27/33 76 53 18 40 40 0 NRCAM,inframe_deletion,p.Thr1046_Thr1047del,ENST00000379028,;NRCAM,inframe_deletion,p.Thr1046_Thr1047del,ENST00000413765,NM_001193582.1;NRCAM,inframe_deletion,p.Thr1030_Thr1031del,ENST00000351718,NM_005010.4;NRCAM,inframe_deletion,p.Thr1027_Thr1028del,ENST00000379024,NM_001193583.1,NM_001193584.1;NRCAM,inframe_deletion,p.Thr1046_Thr1047del,ENST00000425651,NM_001037132.2;NRCAM,inframe_deletion,p.Thr1041_Thr1042del,ENST00000379022,;NRCAM,upstream_gene_variant,,ENST00000445634,;NRCAM,downstream_gene_variant,,ENST00000613830,;NRCAM,non_coding_transcript_exon_variant,,ENST00000465585,;NRCAM,non_coding_transcript_exon_variant,,ENST00000415105,; - ENSG00000091129 ENST00000379028 Transcript inframe_deletion 3622-3627/6685 3136-3141/3915 1046-1047/1304 TT/- ACAACT/- 1 -1 NRCAM HGNC HGNC:7994 protein_coding YES CCDS47686.1 ENSP00000368314 Q92823 UPI00005E2661 27/33 PROSITE_profiles:PS50853,cd00063,hmmpanther:PTHR43951,hmmpanther:PTHR43951:SF5,Gene3D:2.60.40.10,Superfamily_domains:SSF49265 MODERATE 1 deletion 5 PASS ACAGTTGTT . . 108176439 ZNF777 . GRCh38 chr7 149432107 149432107 + Missense_Mutation SNP A A T rs1176696177 7316-454 BS_RAFVMB92 A A c.2165T>A p.Phe722Tyr p.F722Y ENST00000247930 6/6 98 83 11 27 24 1 ZNF777,missense_variant,p.Phe722Tyr,ENST00000247930,NM_015694.2; T ENSG00000196453 ENST00000247930 Transcript missense_variant 2489/3233 2165/2496 722/831 F/Y tTc/tAc rs1176696177,COSM6214151 1 -1 ZNF777 HGNC HGNC:22213 protein_coding YES CCDS43675.1 ENSP00000247930 Q9ULD5 UPI0000E9B152 NM_015694.2 tolerated(1) benign(0.104) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR44987,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GAA . . 149432107 DPYSL2 . GRCh38 chr8 26514579 26514579 + Missense_Mutation SNP A A T novel 7316-454 BS_RAFVMB92 A A c.254A>T p.Gln85Leu p.Q85L ENST00000521913 1/14 135 119 10 31 30 0 DPYSL2,missense_variant,p.Gln85Leu,ENST00000521913,NM_001197293.2;PNMA2,upstream_gene_variant,,ENST00000522362,NM_007257.5;PNMA2,upstream_gene_variant,,ENST00000518212,;PNMA2,upstream_gene_variant,,ENST00000521740,;PNMA2,upstream_gene_variant,,ENST00000521875,;PNMA2,upstream_gene_variant,,ENST00000522450,;PNMA2,upstream_gene_variant,,ENST00000522764,;PNMA2,upstream_gene_variant,,ENST00000523244,;PNMA2,upstream_gene_variant,,ENST00000523616,;,regulatory_region_variant,,ENSR00000222536,; T ENSG00000092964 ENST00000521913 Transcript missense_variant 558/4805 254/2034 85/677 Q/L cAg/cTg 1 1 DPYSL2 HGNC HGNC:3014 protein_coding YES CCDS83268.1 ENSP00000427985 A0A1C7CYX9 UPI0000416B71 NM_001197293.2 tolerated_low_confidence(0.31) benign(0.003) 1/14 mobidb-lite MODERATE 1 SNV 1 PASS CAG . . 26514579 HEY1 . GRCh38 chr8 79767609 79767609 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.55A>C p.Ile19Leu p.I19L ENST00000337919 1/5 177 161 13 29 29 0 HEY1,missense_variant,p.Ile19Leu,ENST00000337919,NM_001040708.1;HEY1,missense_variant,p.Ile19Leu,ENST00000354724,NM_012258.3;HEY1,upstream_gene_variant,,ENST00000518733,;HEY1,upstream_gene_variant,,ENST00000523976,NM_001282851.1;AC036214.1,downstream_gene_variant,,ENST00000502766,;LINC01607,upstream_gene_variant,,ENST00000607172,;HEY1,upstream_gene_variant,,ENST00000435063,;HEY1,non_coding_transcript_exon_variant,,ENST00000519075,;HEY1,non_coding_transcript_exon_variant,,ENST00000521111,;HEY1,non_coding_transcript_exon_variant,,ENST00000523531,;,regulatory_region_variant,,ENSR00000331906,; G ENSG00000164683 ENST00000337919 Transcript missense_variant 249/2296 55/927 19/308 I/L Atc/Ctc 1 -1 HEY1 HGNC HGNC:4880 protein_coding YES CCDS43749.1 ENSP00000338272 Q9Y5J3 UPI000014195F NM_001040708.1 deleterious(0.01) benign(0.01) 1/5 mobidb-lite,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF78 MODERATE 1 SNV 1 1 PASS ATG . . 79767609 ZNF572 . GRCh38 chr8 124977763 124977763 + Missense_Mutation SNP G G A rs1357832629 7316-454 BS_RAFVMB92 G G c.1495G>A p.Asp499Asn p.D499N ENST00000319286 3/3 116 60 55 31 31 0 ZNF572,missense_variant,p.Asp499Asn,ENST00000319286,NM_152412.2; A ENSG00000180938 ENST00000319286 Transcript missense_variant 1649/3275 1495/1590 499/529 D/N Gac/Aac rs1357832629,COSM6453878 1 1 ZNF572 HGNC HGNC:26758 protein_coding YES CCDS6354.1 ENSP00000319305 Q7Z3I7 UPI0000140576 NM_152412.2 deleterious(0.03) benign(0.01) 3/3 hmmpanther:PTHR44153,hmmpanther:PTHR44153:SF6,Gene3D:3.30.160.60 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 4.064e-06 8.96e-06 124977763 ZNF696 . GRCh38 chr8 143296426 143296426 + Missense_Mutation SNP A A C rs1231641517 7316-454 BS_RAFVMB92 A A c.751A>C p.Asn251His p.N251H ENST00000330143 3/3 153 128 13 30 26 0 ZNF696,missense_variant,p.Asn251His,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; C ENSG00000185730 ENST00000330143 Transcript missense_variant 1160/2795 751/1125 251/374 N/H Aac/Cac rs1231641517 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 tolerated(0.17) benign(0.035) 3/3 Gene3D:2.40.155.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GAA . . 143296426 TIGD5 . GRCh38 chr8 143598586 143598586 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.683A>C p.Glu228Ala p.E228A ENST00000504548 1/1 178 126 17 36 36 0 TIGD5,missense_variant,p.Glu228Ala,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; C ENSG00000179886 ENST00000504548 Transcript missense_variant 752/5390 683/1929 228/642 E/A gAg/gCg 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 tolerated(0.2) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45428 MODERATE SNV PASS GAG . . 143598586 CCDC166 . GRCh38 chr8 143707727 143707727 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.383T>G p.Leu128Trp p.L128W ENST00000542437 1/2 147 127 14 30 30 0 CCDC166,missense_variant,p.Leu128Trp,ENST00000542437,NM_001162914.1;AC105219.3,downstream_gene_variant,,ENST00000527579,;ZNF707,upstream_gene_variant,,ENST00000508587,;ZNF707,intron_variant,,ENST00000527561,;,regulatory_region_variant,,ENSR00000333961,; C ENSG00000255181 ENST00000542437 Transcript missense_variant 383/1320 383/1320 128/439 L/W tTg/tGg 1 -1 CCDC166 HGNC HGNC:41910 protein_coding YES CCDS55280.1 ENSP00000437468 P0CW27 UPI00016623E2 NM_001162914.1 deleterious(0) probably_damaging(0.911) 1/2 hmmpanther:PTHR14845:SF4,hmmpanther:PTHR14845,Pfam_domain:PF14988 MODERATE 1 SNV 2 PASS CAA . . 143707727 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 160 132 20 35 34 0 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 SCRT1 . GRCh38 chr8 144333874 144333874 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.358A>C p.Thr120Pro p.T120P ENST00000569446 2/2 118 100 13 31 29 0 SCRT1,missense_variant,p.Thr120Pro,ENST00000569446,NM_031309.5; G ENSG00000261678 ENST00000569446 Transcript missense_variant 470/3779 358/1047 120/348 T/P Acc/Ccc 1 -1 SCRT1 HGNC HGNC:15950 protein_coding YES CCDS6421.1 ENSP00000455711 Q9BWW7 UPI0000457711 NM_031309.5 tolerated(0.07) benign(0.168) 2/2 hmmpanther:PTHR44270:SF1,hmmpanther:PTHR44270,Gene3D:3.30.160.60 MODERATE 1 SNV 1 PASS GTG . . 144333874 RECQL4 . GRCh38 chr8 144517783 144517783 + Translation_Start_Site SNP A A C novel 7316-454 BS_RAFVMB92 A A c.2T>G p.Met1? p.M1? ENST00000617875 1/21 255 233 16 37 36 0 RECQL4,start_lost,p.Met1?,ENST00000617875,NM_004260.3;RECQL4,5_prime_UTR_variant,,ENST00000621189,;LRRC14,upstream_gene_variant,,ENST00000292524,NM_014665.3;RECQL4,upstream_gene_variant,,ENST00000524998,;LRRC14,upstream_gene_variant,,ENST00000525766,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000529022,NM_001272036.1;LRRC24,downstream_gene_variant,,ENST00000529415,NM_001024678.3;LRRC14,upstream_gene_variant,,ENST00000530854,;RECQL4,upstream_gene_variant,,ENST00000532846,;LRRC24,downstream_gene_variant,,ENST00000533758,;RECQL4,upstream_gene_variant,,ENST00000534626,;AC084125.4,downstream_gene_variant,,ENST00000580385,;LRRC14,upstream_gene_variant,,ENST00000528528,;LRRC14,upstream_gene_variant,,ENST00000531310,;RECQL4,upstream_gene_variant,,ENST00000534270,;RECQL4,upstream_gene_variant,,ENST00000534538,;,regulatory_region_variant,,ENSR00000232262,; C ENSG00000160957 ENST00000617875 Transcript start_lost 44/3809 2/3627 1/1208 M/R aTg/aGg 1 -1 RECQL4 HGNC HGNC:9949 protein_coding YES CCDS75804.1 ENSP00000482313 O94761 UPI0000E5E124 NM_004260.3 deleterious(0) probably_damaging(0.956) 1/21 HIGH 1 SNV 1 1 PASS CAT . . 144517783 FOXB2 . GRCh38 chr9 77020358 77020358 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.704T>G p.Val235Gly p.V235G ENST00000376708 1/1 90 65 11 21 21 0 FOXB2,missense_variant,p.Val235Gly,ENST00000376708,NM_001013735.1; G ENSG00000204612 ENST00000376708 Transcript missense_variant 704/1299 704/1299 235/432 V/G gTg/gGg 1 1 FOXB2 HGNC HGNC:23315 protein_coding YES CCDS35045.1 ENSP00000365898 Q5VYV0 UPI00004588EE NM_001013735.1 deleterious_low_confidence(0.01) benign(0.011) 1/1 Low_complexity_(Seg):seg,Gene3D:3.40.50.1980,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF215 MODERATE 1 SNV PASS GTG . . 77020358 OR13C5 . GRCh38 chr9 104599170 104599171 + Frame_Shift_Del DEL GC GC - rs377523807 7316-454 BS_RAFVMB92 GC GC c.243_244del p.Leu82SerfsTer39 p.L82Sfs*39 ENST00000374779 1/1 66 58 5 38 38 0 OR13C5,frameshift_variant,p.Leu82SerfsTer39,ENST00000374779,NM_001004482.1; - ENSG00000277556 ENST00000374779 Transcript frameshift_variant 243-244/957 243-244/957 81-82/318 TL/TX acGCta/acta rs377523807,COSM405117 1 -1 OR13C5 HGNC HGNC:15100 protein_coding YES CCDS35091.1 ENSP00000363911 Q8NGS8 UPI0000041D12 NM_001004482.1 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15430,hmmpanther:PTHR26453:SF121,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 0,1 HIGH 1 deletion 0,1 PASS TAGCG . . 0.003272 0.01217 0.002771 0.0005356 0.01456 0.001346 0.001523 0.001002 0.004606 104599169 LHX2 . GRCh38 chr9 124015478 124015478 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.680A>C p.Lys227Thr p.K227T ENST00000373615 3/5 164 148 13 27 27 0 LHX2,missense_variant,p.Lys227Thr,ENST00000373615,NM_004789.3;LHX2,missense_variant,p.Lys233Thr,ENST00000446480,;LHX2,missense_variant,p.Lys28Thr,ENST00000488674,;LHX2,downstream_gene_variant,,ENST00000560961,;AC006450.1,downstream_gene_variant,,ENST00000421041,;,regulatory_region_variant,,ENSR00000241214,; C ENSG00000106689 ENST00000373615 Transcript missense_variant 1419/2554 680/1221 227/406 K/T aAa/aCa 1 1 LHX2 HGNC HGNC:6594 protein_coding YES CCDS6853.1 ENSP00000362717 P50458 UPI000012E659 NM_004789.3 deleterious(0) possibly_damaging(0.548) 3/5 Gene3D:2.10.110.10,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF90 MODERATE 1 SNV 1 PASS AAA . . 124015478 SPTAN1 . GRCh38 chr9 128612202 128612202 + Missense_Mutation SNP A A T novel 7316-454 BS_RAFVMB92 A A c.4999A>T p.Asn1667Tyr p.N1667Y ENST00000372739 39/57 123 96 27 30 30 0 SPTAN1,missense_variant,p.Asn1662Tyr,ENST00000372731,NM_003127.3;SPTAN1,missense_variant,p.Asn1667Tyr,ENST00000372739,NM_001130438.2;SPTAN1,missense_variant,p.Asn1647Tyr,ENST00000630804,;SPTAN1,missense_variant,p.Asn1642Tyr,ENST00000358161,NM_001195532.1;SPTAN1,missense_variant,p.Asn1667Tyr,ENST00000630866,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000637434,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000476825,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000629378,;SPTAN1,downstream_gene_variant,,ENST00000461855,;SPTAN1,downstream_gene_variant,,ENST00000629137,;SPTAN1,downstream_gene_variant,,ENST00000631121,;SPTAN1,downstream_gene_variant,,ENST00000631315,;SPTAN1,downstream_gene_variant,,ENST00000635853,;SPTAN1,downstream_gene_variant,,ENST00000637820,; T ENSG00000197694 ENST00000372739 Transcript missense_variant 5109/7868 4999/7434 1667/2477 N/Y Aac/Tac 1 1 SPTAN1 HGNC HGNC:11273 protein_coding YES CCDS48036.1 ENSP00000361824 Q13813 UPI000045894C NM_001130438.2 deleterious(0.02) probably_damaging(0.991) 39/57 Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR44262,hmmpanther:PTHR44262:SF2,SMART_domains:SM00150,Superfamily_domains:SSF46966 MODERATE 1 SNV 1 1 PASS GAA . . 128612202 RABL6 . GRCh38 chr9 136840491 136840491 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.2162A>C p.His721Pro p.H721P ENST00000371663 15/15 119 99 13 24 23 0 RABL6,missense_variant,p.His720Pro,ENST00000311502,NM_024718.4;RABL6,missense_variant,p.His721Pro,ENST00000371663,NM_001173988.1;RABL6,synonymous_variant,p.Pro362=,ENST00000357466,;AJM1,upstream_gene_variant,,ENST00000436881,NM_001080482.2;RABL6,downstream_gene_variant,,ENST00000629216,;RABL6,downstream_gene_variant,,ENST00000461992,;RABL6,3_prime_UTR_variant,,ENST00000464941,;RABL6,3_prime_UTR_variant,,ENST00000484471,;RABL6,downstream_gene_variant,,ENST00000435930,;RABL6,downstream_gene_variant,,ENST00000466096,; C ENSG00000196642 ENST00000371663 Transcript missense_variant 2392/3078 2162/2193 721/730 H/P cAc/cCc 1 1 RABL6 HGNC HGNC:24703 protein_coding YES CCDS55352.1 ENSP00000360727 Q3YEC7 H0Y4Z8 UPI0000E0C208 NM_001173988.1 tolerated_low_confidence(0.23) benign(0.136) 15/15 hmmpanther:PTHR14932,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAC . . 136840491 TUBB4B . GRCh38 chr9 137241379 137241379 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.19T>G p.Leu7Val p.L7V ENST00000340384 1/4 166 128 23 39 38 0 TUBB4B,missense_variant,p.Leu7Val,ENST00000340384,NM_006088.5;FAM166A,downstream_gene_variant,,ENST00000344774,NM_001001710.2;SLC34A3,downstream_gene_variant,,ENST00000361134,NM_080877.2;FAM166A,downstream_gene_variant,,ENST00000484720,;SLC34A3,downstream_gene_variant,,ENST00000538474,NM_001177316.1,NM_001177317.1;TUBB4B,non_coding_transcript_exon_variant,,ENST00000604929,;FAM166A,downstream_gene_variant,,ENST00000471784,;,regulatory_region_variant,,ENSR00000243167,; G ENSG00000188229 ENST00000340384 Transcript missense_variant 167/1637 19/1338 7/445 L/V Ttg/Gtg 1 1 TUBB4B HGNC HGNC:20771 protein_coding YES CCDS7039.1 ENSP00000341289 P68371 UPI000000D966 NM_006088.5 tolerated_low_confidence(0.24) benign(0.012) 1/4 Gene3D:3.40.50.1440,Pfam_domain:PF00091,Superfamily_domains:SSF52490,cd02187 MODERATE 1 SNV 1 1 PASS CTT . . 137241379 CAMK1D . GRCh38 chr10 12349820 12349820 + Translation_Start_Site SNP T T G rs1410721201 7316-454 BS_RAFVMB92 T T c.2T>G p.Met1? p.M1? ENST00000619168 1/11 92 79 8 28 28 0 CAMK1D,start_lost,p.Met1?,ENST00000619168,NM_153498.3;CAMK1D,start_lost,p.Met1?,ENST00000378845,NM_020397.3;CAMK1D,non_coding_transcript_exon_variant,,ENST00000487696,;,regulatory_region_variant,,ENSR00000024537,; G ENSG00000183049 ENST00000619168 Transcript start_lost 339/8153 2/1158 1/385 M/R aTg/aGg rs1410721201 1 1 CAMK1D HGNC HGNC:19341 protein_coding YES CCDS7091.1 ENSP00000478874 Q8IU85 UPI000003CA33 NM_153498.3 deleterious_low_confidence(0) possibly_damaging(0.599) 1/11 hmmpanther:PTHR24347:SF252,hmmpanther:PTHR24347,Gene3D:3.30.200.20 HIGH 1 SNV 1 PASS ATG . . 5.153e-06 1.1e-05 12349820 RBP3 . GRCh38 chr10 47348561 47348561 + Missense_Mutation SNP G G A novel 7316-454 BS_RAFVMB92 G G c.77G>A p.Ser26Asn p.S26N ENST00000584701 1/4 77 41 36 37 37 0 RBP3,missense_variant,p.Ser26Asn,ENST00000584701,NM_002900.2; A ENSG00000265203 ENST00000584701 Transcript missense_variant 191/4276 77/3744 26/1247 S/N aGc/aAc 1 1 RBP3 HGNC HGNC:9921 protein_coding YES CCDS73119.1 ENSP00000463151 P10745 UPI000012D87A NM_002900.2 tolerated(0.21) benign(0.05) 1/4 hmmpanther:PTHR11261:SF3,hmmpanther:PTHR11261,Gene3D:3.30.750.44,Pfam_domain:PF11918 MODERATE 1 SNV 1 1 PASS AGC . . 47348561 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 85 58 18 30 28 2 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 WEE1 . GRCh38 chr11 9574186 9574186 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.253A>C p.Ser85Arg p.S85R ENST00000450114 1/11 86 74 9 30 30 0 WEE1,missense_variant,p.Ser85Arg,ENST00000450114,NM_003390.3;WEE1,upstream_gene_variant,,ENST00000299613,NM_001143976.1;WEE1,upstream_gene_variant,,ENST00000524612,;RF01210,upstream_gene_variant,,ENST00000458785,;WEE1,upstream_gene_variant,,ENST00000524549,;,regulatory_region_variant,,ENSR00000036604,; C ENSG00000166483 ENST00000450114 Transcript missense_variant 506/2799 253/1941 85/646 S/R Agc/Cgc 1 1 WEE1 HGNC HGNC:12761 protein_coding YES CCDS7800.1 ENSP00000402084 P30291 UPI0000138EF4 NM_003390.3 deleterious_low_confidence(0.02) benign(0.003) 1/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF72,PIRSF_domain:PIRSF037281 MODERATE 1 SNV 1 PASS CAG . . 9574186 OR5D16 . GRCh38 chr11 55839041 55839041 + Missense_Mutation SNP C C T novel 7316-454 BS_RAFVMB92 C C c.290C>T p.Ser97Leu p.S97L ENST00000378396 1/1 68 54 13 39 39 0 OR5D16,missense_variant,p.Ser97Leu,ENST00000378396,NM_001005496.1; T ENSG00000205029 ENST00000378396 Transcript missense_variant 290/987 290/987 97/328 S/L tCa/tTa 1 1 OR5D16 HGNC HGNC:15283 protein_coding YES CCDS31512.1 ENSP00000367649 Q8NGK9 UPI0000046198 NM_001005496.1 tolerated(1) benign(0.011) 1/1 PROSITE_profiles:PS50262,cd15410,hmmpanther:PTHR26452:SF243,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245 MODERATE 1 SNV PASS TCA . . 55839041 BTBD18 . GRCh38 chr11 57751060 57751060 + Splice_Region SNP C C G novel 7316-454 BS_RAFVMB92 C C c.124+5G>C ENST00000422652 52 46 6 44 44 0 BTBD18,splice_region_variant,,ENST00000422652,NM_001145101.1;BTBD18,splice_region_variant,,ENST00000436147,;BTBD18,splice_region_variant,,ENST00000527995,;CTNND1,upstream_gene_variant,,ENST00000524630,;CTNND1,upstream_gene_variant,,ENST00000529919,;CTNND1,upstream_gene_variant,,ENST00000533189,;TMX2-CTNND1,intron_variant,,ENST00000528395,;AP001931.1,intron_variant,,ENST00000531074,; G ENSG00000233436 ENST00000422652 Transcript splice_region_variant,intron_variant 1 -1 BTBD18 HGNC HGNC:37214 protein_coding YES CCDS44603.1 ENSP00000394472 B2RXH4 UPI00006C113A NM_001145101.1 2/2 LOW SNV 4 PASS TCT . . 57751060 SART1 . GRCh38 chr11 65961954 65961954 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.174A>C p.Glu58Asp p.E58D ENST00000312397 1/20 145 117 17 39 37 0 SART1,missense_variant,p.Glu58Asp,ENST00000312397,NM_005146.4;TSGA10IP,downstream_gene_variant,,ENST00000532620,NM_152762.2;SART1,non_coding_transcript_exon_variant,,ENST00000528573,;SART1,missense_variant,p.Glu58Asp,ENST00000530251,;SART1,non_coding_transcript_exon_variant,,ENST00000529532,;SART1,non_coding_transcript_exon_variant,,ENST00000532333,;TSGA10IP,downstream_gene_variant,,ENST00000534740,;TSGA10IP,downstream_gene_variant,,ENST00000608857,;,regulatory_region_variant,,ENSR00000040915,; C ENSG00000175467 ENST00000312397 Transcript missense_variant 266/3293 174/2403 58/800 E/D gaA/gaC 1 1 SART1 HGNC HGNC:10538 protein_coding YES CCDS31611.1 ENSP00000310448 O43290 UPI00000732D5 NM_005146.4 tolerated_low_confidence(0.42) possibly_damaging(0.899) 1/20 PDB-ENSP_mappings:5o9z.P,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 65961954 CARD16 . GRCh38 chr11 105041688 105041688 + Missense_Mutation SNP C C T novel 7316-454 BS_RAFVMB92 C C c.306G>A p.Met102Ile p.M102I ENST00000375706 3/3 89 62 26 45 44 0 CARD16,missense_variant,p.Met102Ile,ENST00000375706,NM_001017534.1;CARD16,missense_variant,p.Met86Ile,ENST00000528513,;CARD16,3_prime_UTR_variant,,ENST00000375704,NM_052889.2;CARD16,3_prime_UTR_variant,,ENST00000525374,;CARD16,downstream_gene_variant,,ENST00000527065,; T ENSG00000204397 ENST00000375706 Transcript missense_variant 324/686 306/594 102/197 M/I atG/atA 1 -1 CARD16 HGNC HGNC:33701 protein_coding YES CCDS31661.1 ENSP00000364858 Q5EG05 UPI00004C9CE7 NM_001017534.1 tolerated(0.26) benign(0.007) 3/3 hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF34 MODERATE 1 SNV 1 PASS GCA . . 105041688 TAS2R46 . GRCh38 chr12 11061665 11061665 + Missense_Mutation SNP C C G rs374212046 7316-454 BS_RAFVMB92 C C c.630G>C p.Gln210His p.Q210H ENST00000533467 1/1 53 46 6 47 47 0 TAS2R46,missense_variant,p.Gln210His,ENST00000533467,NM_176887.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; G ENSG00000226761 ENST00000533467 Transcript missense_variant 630/930 630/930 210/309 Q/H caG/caC rs374212046 1 -1 TAS2R46 HGNC HGNC:18877 protein_coding YES CCDS53748.1 ENSP00000436450 P59540 UPI000000D821 NM_176887.2 deleterious(0.04) benign(0.151) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF66,Superfamily_domains:SSF81321,cd15027 MODERATE SNV PASS GCT . . 8.132e-06 5.798e-05 8.97e-06 11061665 LRRK2 . GRCh38 chr12 40354301 40354315 + In_Frame_Del DEL AGTTGCTGATAGTAG AGTTGCTGATAGTAG - novel 7316-454 BS_RAFVMB92 AGTTGCTGATAGTAG AGTTGCTGATAGTAG c.6580_6594del p.Val2194_Arg2198del p.V2194_R2198del ENST00000298910 45/51 48 28 20 45 45 0 LRRK2,inframe_deletion,p.Val2194_Arg2198del,ENST00000298910,NM_198578.3;LRRK2,inframe_deletion,p.Val127_Arg131del,ENST00000636518,;LRRK2,splice_region_variant,,ENST00000479187,;LRRK2,splice_region_variant,,ENST00000430804,; - ENSG00000188906 ENST00000298910 Transcript inframe_deletion,splice_region_variant 6637-6651/9158 6579-6593/7584 2193-2198/2527 EVADSR/E gaAGTTGCTGATAGTAGa/gaa 1 1 LRRK2 HGNC HGNC:18618 protein_coding YES CCDS31774.1 ENSP00000298910 Q5S007 UPI00006C128E NM_198578.3 45/51 Gene3D:2.130.10.10,hmmpanther:PTHR44651,Superfamily_domains:SSF50978 MODERATE 1 deletion 1 1 1 PASS GAAGTTGCTGATAGTAGA . . 40354300 FAM186A . GRCh38 chr12 50353288 50353288 + Missense_Mutation SNP G G T rs1336929421 7316-454 BS_RAFVMB92 G G c.3544C>A p.Pro1182Thr p.P1182T ENST00000327337 4/8 41 31 7 33 33 0 FAM186A,missense_variant,p.Pro1182Thr,ENST00000543111,;FAM186A,missense_variant,p.Pro1182Thr,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; T ENSG00000185958 ENST00000327337 Transcript missense_variant 3544/7127 3544/7056 1182/2351 P/T Cct/Act rs1336929421,COSM940343 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0.047) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 8.101e-06 6.425e-05 50353288 PAN3 . GRCh38 chr13 28138737 28138737 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.80T>G p.Val27Gly p.V27G ENST00000380958 1/19 128 94 21 31 30 1 PAN3,missense_variant,p.Val27Gly,ENST00000380958,NM_175854.7;PAN3,upstream_gene_variant,,ENST00000399613,;PAN3-AS1,upstream_gene_variant,,ENST00000563843,;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;,regulatory_region_variant,,ENSR00000060397,; G ENSG00000152520 ENST00000380958 Transcript missense_variant 232/2833 80/2664 27/887 V/G gTg/gGg 1 1 PAN3 HGNC HGNC:29991 protein_coding YES CCDS9329.2 ENSP00000370345 Q58A45 UPI0001BE8112 NM_175854.7 tolerated_low_confidence(0.16) benign(0.005) 1/19 Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 28138737 RFXAP . GRCh38 chr13 36819551 36819551 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.194T>G p.Val65Gly p.V65G ENST00000255476 1/3 167 152 10 26 26 0 RFXAP,missense_variant,p.Val65Gly,ENST00000255476,;,regulatory_region_variant,,ENSR00000061326,; G ENSG00000133111 ENST00000255476 Transcript missense_variant 328/2304 194/819 65/272 V/G gTt/gGt 1 1 RFXAP HGNC HGNC:9988 protein_coding YES CCDS9359.1 ENSP00000255476 O00287 UPI0000133812 tolerated_low_confidence(0.45) benign(0) 1/3 hmmpanther:PTHR15110 MODERATE 1 SNV 1 1 PASS GTT . . 36819551 SLC7A8 . GRCh38 chr14 23143163 23143163 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.550A>C p.Thr184Pro p.T184P ENST00000316902 4/11 63 55 8 43 43 0 SLC7A8,missense_variant,p.Thr184Pro,ENST00000316902,NM_012244.3;SLC7A8,missense_variant,p.Thr184Pro,ENST00000469263,;SLC7A8,missense_variant,p.His11Pro,ENST00000422941,NM_001267037.1;SLC7A8,missense_variant,p.Thr79Pro,ENST00000529705,NM_001267036.1;SLC7A8,5_prime_UTR_variant,,ENST00000453702,NM_182728.2;SLC7A8,5_prime_UTR_variant,,ENST00000621729,;SLC7A8,non_coding_transcript_exon_variant,,ENST00000532568,;SLC7A8,missense_variant,p.Thr63Pro,ENST00000339733,;SLC7A8,5_prime_UTR_variant,,ENST00000528860,;SLC7A8,upstream_gene_variant,,ENST00000528186,; G ENSG00000092068 ENST00000316902 Transcript missense_variant 1276/4216 550/1608 184/535 T/P Acc/Ccc 1 -1 SLC7A8 HGNC HGNC:11066 protein_coding YES CCDS9590.1 ENSP00000320378 Q9UHI5 UPI000012E235 NM_012244.3 deleterious(0) probably_damaging(0.995) 4/11 hmmpanther:PTHR11785:SF113,hmmpanther:PTHR11785,PIRSF_domain:PIRSF006060,TIGRFAM_domain:TIGR00911,Pfam_domain:PF13520 MODERATE 1 SNV 1 PASS GTG . . 23143163 ACTC1 . GRCh38 chr15 34795504 34795504 + Splice_Site SNP A A C novel 7316-454 BS_RAFVMB92 A A c.-23+2T>G ENST00000290378 52 46 6 39 39 0 ACTC1,splice_donor_variant,,ENST00000290378,NM_005159.4;AC087457.1,intron_variant,,ENST00000503496,;ACTC1,upstream_gene_variant,,ENST00000557860,;ACTC1,upstream_gene_variant,,ENST00000560563,;,regulatory_region_variant,,ENSR00000074836,;,TF_binding_site_variant,,MA0491.1,;,TF_binding_site_variant,,MA0491.1,; C ENSG00000159251 ENST00000290378 Transcript splice_donor_variant 1 -1 ACTC1 HGNC HGNC:143 protein_coding YES CCDS10041.1 ENSP00000290378 P68032 UPI0000003F15 NM_005159.4 1/6 HIGH 1 SNV 1 1 PASS CAC . . 34795504 DRAIC . GRCh38 chr15 69670181 69670194 + Splice_Site DEL CAGGTGAGGAAACT CAGGTGAGGAAACT - novel 7316-454 BS_RAFVMB92 CAGGTGAGGAAACT CAGGTGAGGAAACT n.52_54+11del ENST00000558941 1/5 64 39 17 48 48 0 DRAIC,splice_donor_variant,,ENST00000558941,;DRAIC,intron_variant,,ENST00000560655,;DRAIC,intron_variant,,ENST00000644274,;DRAIC,intron_variant,,ENST00000645479,;DRAIC,intron_variant,,ENST00000646247,;DRAIC,intron_variant,,ENST00000647319,;DRAIC,upstream_gene_variant,,ENST00000559212,; - ENSG00000245750 ENST00000558941 Transcript splice_donor_variant,non_coding_transcript_exon_variant,intron_variant 52-?/9011 1 1 DRAIC HGNC HGNC:27082 lincRNA YES 1/5 1/4 HIGH 1 deletion 4 PASS TACAGGTGAGGAAACTG . . 69670180 TMEM8A . GRCh38 chr16 375149 375149 + Missense_Mutation SNP A A G novel 7316-454 BS_RAFVMB92 A A c.1423T>C p.Cys475Arg p.C475R ENST00000431232 8/13 102 69 33 35 35 0 TMEM8A,missense_variant,p.Cys475Arg,ENST00000431232,NM_021259.2;TMEM8A,missense_variant,p.Cys282Arg,ENST00000250930,;TMEM8A,missense_variant,p.Cys23Arg,ENST00000448854,;MRPL28,upstream_gene_variant,,ENST00000199706,NM_006428.4;MRPL28,upstream_gene_variant,,ENST00000389675,;TMEM8A,upstream_gene_variant,,ENST00000424078,;TMEM8A,downstream_gene_variant,,ENST00000427313,;MRPL28,upstream_gene_variant,,ENST00000441883,;MRPL28,upstream_gene_variant,,ENST00000447696,;MRPL28,upstream_gene_variant,,ENST00000450882,;TMEM8A,downstream_gene_variant,,ENST00000476735,;TMEM8A,non_coding_transcript_exon_variant,,ENST00000475348,;MRPL28,upstream_gene_variant,,ENST00000461550,;TMEM8A,upstream_gene_variant,,ENST00000467452,;MRPL28,upstream_gene_variant,,ENST00000469744,;MRPL28,upstream_gene_variant,,ENST00000481453,;MRPL28,upstream_gene_variant,,ENST00000483764,; G ENSG00000129925 ENST00000431232 Transcript missense_variant 1584/3691 1423/2316 475/771 C/R Tgc/Cgc 1 -1 TMEM8A HGNC HGNC:17205 protein_coding YES CCDS10407.1 ENSP00000401338 Q9HCN3 UPI000013CCD4 NM_021259.2 deleterious(0) probably_damaging(0.999) 8/13 hmmpanther:PTHR14319,hmmpanther:PTHR14319:SF7 MODERATE 1 SNV 1 PASS CAC . . 375149 ABAT . GRCh38 chr16 8776358 8776359 + Frame_Shift_Ins INS - - AACACCTGGCTGGGGGACCCGTCCA novel 7316-454 BS_RAFVMB92 - - c.1139_1163dup p.Asn389HisfsTer14 p.N389Hfs*14 ENST00000396600 14/16 83 45 29 30 25 0 ABAT,frameshift_variant,p.Asn389HisfsTer14,ENST00000396600,NM_000663.4;ABAT,frameshift_variant,p.Asn389HisfsTer14,ENST00000268251,NM_020686.5;ABAT,frameshift_variant,p.Asn404HisfsTer14,ENST00000567812,;ABAT,frameshift_variant,p.Asn389HisfsTer14,ENST00000425191,NM_001127448.1;ABAT,frameshift_variant,p.Asn389HisfsTer14,ENST00000569156,;TMEM186,downstream_gene_variant,,ENST00000564869,;ABAT,3_prime_UTR_variant,,ENST00000566590,; AACACCTGGCTGGGGGACCCGTCCA ENSG00000183044 ENST00000396600 Transcript frameshift_variant 2075-2076/5586 1137-1138/1503 379-380/500 -/NTWLGDPSX -/AACACCTGGCTGGGGGACCCGTCCA 1 1 ABAT HGNC HGNC:23 protein_coding YES CCDS10534.1 ENSP00000379845 P80404 X5D8S1 UPI000006D4FC NM_000663.4 14/16 Gene3D:3.40.640.10,Pfam_domain:PF00202,PIRSF_domain:PIRSF000521,hmmpanther:PTHR43206,hmmpanther:PTHR43206:SF1,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR00699,cd00610 HIGH 1 insertion 5 26 1 PASS TCA . . 8776358 USP7 . GRCh38 chr16 8963218 8963218 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.68T>G p.Met23Arg p.M23R ENST00000344836 1/31 59 47 9 16 16 0 USP7,missense_variant,p.Met23Arg,ENST00000344836,NM_003470.2,NM_001321858.1;USP7,intron_variant,,ENST00000569230,;USP7,upstream_gene_variant,,ENST00000566273,;AC022167.3,intron_variant,,ENST00000564485,;USP7,missense_variant,p.Met23Arg,ENST00000563961,;,regulatory_region_variant,,ENSR00000083032,; C ENSG00000187555 ENST00000344836 Transcript missense_variant 267/5412 68/3309 23/1102 M/R aTg/aGg 1 -1 USP7 HGNC HGNC:12630 protein_coding YES CCDS32385.1 ENSP00000343535 Q93009 UPI000013F0BE NM_003470.2,NM_001321858.1 tolerated(0.57) benign(0.012) 1/31 mobidb-lite,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF644 MODERATE 1 SNV 1 1 PASS CAT . . 8963218 DPH1 . GRCh38 chr17 2041795 2041795 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.1270T>G p.Ser424Ala p.S424A ENST00000263083 12/13 148 135 11 50 50 0 DPH1,missense_variant,p.Ser424Ala,ENST00000263083,NM_001383.3;DPH1,missense_variant,p.Ser129Ala,ENST00000571710,;DPH1,missense_variant,p.Ser344Ala,ENST00000570477,;DPH1,missense_variant,p.Ser412Ala,ENST00000571418,;DPH1,missense_variant,p.Ser84Ala,ENST00000607788,;DPH1,missense_variant,p.Ser88Ala,ENST00000575162,;OVCA2,upstream_gene_variant,,ENST00000572195,NM_080822.2;AC090617.5,downstream_gene_variant,,ENST00000572790,;AC090617.3,downstream_gene_variant,,ENST00000572404,;DPH1,downstream_gene_variant,,ENST00000576891,;DPH1,missense_variant,p.Ser33Ala,ENST00000263084,;DPH1,3_prime_UTR_variant,,ENST00000575667,;DPH1,non_coding_transcript_exon_variant,,ENST00000572684,;DPH1,non_coding_transcript_exon_variant,,ENST00000570867,;DPH1,non_coding_transcript_exon_variant,,ENST00000572214,;DPH1,non_coding_transcript_exon_variant,,ENST00000572248,;DPH1,downstream_gene_variant,,ENST00000570833,;DPH1,downstream_gene_variant,,ENST00000572819,;DPH1,downstream_gene_variant,,ENST00000575998,;DPH1,downstream_gene_variant,,ENST00000576129,;,regulatory_region_variant,,ENSR00000090178,; G ENSG00000108963 ENST00000263083 Transcript missense_variant 1315/2221 1270/1332 424/443 S/A Tcg/Gcg 1 1 DPH1 HGNC HGNC:3003 protein_coding YES CCDS42228.1 ENSP00000263083 Q9BZG8 UPI000013D3A0 NM_001383.3 tolerated_low_confidence(0.29) benign(0.006) 12/13 mobidb-lite MODERATE 1 SNV 1 1 PASS TTC . . 2041795 NCBP3 . GRCh38 chr17 3846038 3846038 + Splice_Region SNP T T G novel 7316-454 BS_RAFVMB92 T T c.183+3A>C ENST00000389005 122 101 17 36 35 0 NCBP3,splice_region_variant,,ENST00000389005,NM_001114118.2;,regulatory_region_variant,,ENSR00000090383,; G ENSG00000074356 ENST00000389005 Transcript splice_region_variant,intron_variant 1 -1 NCBP3 HGNC HGNC:24612 protein_coding YES CCDS45578.1 ENSP00000373657 Q53F19 UPI00004DDA14 NM_001114118.2 1/12 LOW 1 SNV 5 PASS GTA . . 3846038 MYBBP1A . GRCh38 chr17 4552465 4552465 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.723T>G p.Asp241Glu p.D241E ENST00000381556 6/27 79 69 9 34 34 0 MYBBP1A,missense_variant,p.Asp241Glu,ENST00000254718,NM_014520.3;MYBBP1A,missense_variant,p.Asp241Glu,ENST00000381556,NM_001105538.1;MYBBP1A,missense_variant,p.Asp161Glu,ENST00000573116,;GGT6,downstream_gene_variant,,ENST00000301395,NM_153338.3,NM_001288704.1;GGT6,downstream_gene_variant,,ENST00000381550,NM_001288702.1;MYBBP1A,upstream_gene_variant,,ENST00000573723,;GGT6,downstream_gene_variant,,ENST00000574154,NM_001122890.2;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000570986,;MYBBP1A,upstream_gene_variant,,ENST00000573175,; C ENSG00000132382 ENST00000381556 Transcript missense_variant 785/4104 723/3999 241/1332 D/E gaT/gaG 1 -1 MYBBP1A HGNC HGNC:7546 protein_coding YES CCDS42238.1 ENSP00000370968 Q9BQG0 UPI0000551C8B NM_001105538.1 tolerated(0.59) benign(0.003) 6/27 hmmpanther:PTHR13213,Pfam_domain:PF04931,Gene3D:1.25.10.10,Superfamily_domains:SSF48371 MODERATE SNV 5 PASS CAT . . 4552465 PER1 . GRCh38 chr17 8145982 8145983 + Frame_Shift_Ins INS - - CACATGGACGATGGTGGAGCTT novel 7316-454 BS_RAFVMB92 - - c.2193_2194insAAGCTCCACCATCGTCCATGTG p.Gly732LysfsTer43 p.G732Kfs*43 ENST00000317276 17/23 132 70 27 35 31 0 PER1,frameshift_variant,p.Gly732LysfsTer43,ENST00000317276,NM_002616.2;PER1,frameshift_variant,p.Gly712LysfsTer43,ENST00000581082,;PER1,frameshift_variant,p.Gly716LysfsTer43,ENST00000354903,;PER1,frameshift_variant,p.Gly15LysfsTer43,ENST00000583559,;AC129492.3,downstream_gene_variant,,ENST00000498285,;PER1,downstream_gene_variant,,ENST00000577253,;PER1,downstream_gene_variant,,ENST00000581703,;PER1,downstream_gene_variant,,ENST00000584202,;MIR6883,upstream_gene_variant,,ENST00000614952,;PER1,non_coding_transcript_exon_variant,,ENST00000578089,;PER1,frameshift_variant,p.Gly732LysfsTer43,ENST00000582719,;PER1,intron_variant,,ENST00000581395,;PER1,downstream_gene_variant,,ENST00000577424,;PER1,downstream_gene_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000578950,;PER1,downstream_gene_variant,,ENST00000579065,;PER1,upstream_gene_variant,,ENST00000579098,;PER1,downstream_gene_variant,,ENST00000579203,;PER1,upstream_gene_variant,,ENST00000583677,;PER1,downstream_gene_variant,,ENST00000585095,;PER1,upstream_gene_variant,,ENST00000585284,; CACATGGACGATGGTGGAGCTT ENSG00000179094 ENST00000317276 Transcript frameshift_variant 2431-2432/4707 2193-2194/3873 731-732/1290 -/KLHHRPCX -/AAGCTCCACCATCGTCCATGTG 1 -1 PER1 HGNC HGNC:8845 protein_coding YES CCDS11131.1 ENSP00000314420 O15534 UPI000013FFF5 NM_002616.2 17/23 hmmpanther:PTHR11269:SF8,hmmpanther:PTHR11269,Gene3D:3.30.450.20 HIGH 1 insertion 1 1 PASS CCC . . 8145982 KRTAP4-9 . GRCh38 chr17 41105610 41105610 + Missense_Mutation SNP T T G 7316-454 BS_RAFVMB92 T T c.222T>G p.Cys74Trp p.C74W ENST00000391415 1/1 64 45 8 40 37 0 KRTAP4-9,missense_variant,p.Cys74Trp,ENST00000391415,NM_001146041.1;KRTAP4-9,intron_variant,,ENST00000617453,;KRTAP4-16,upstream_gene_variant,,ENST00000440582,;,regulatory_region_variant,,ENSR00000094196,; G ENSG00000212722 ENST00000391415 Transcript missense_variant 279/1157 222/633 74/210 C/W tgT/tgG COSM1293658 1 1 KRTAP4-9 HGNC HGNC:18910 protein_coding YES CCDS54124.1 ENSP00000375234 Q9BYQ8 UPI000021D2D3 NM_001146041.1 deleterious(0) probably_damaging(0.983) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF137,hmmpanther:PTHR23262,Pfam_domain:PF01500 1 MODERATE 1 SNV 1 PASS GTT . . 41105610 PLEKHM1 . GRCh38 chr17 45475424 45475424 + Missense_Mutation SNP G G A rs147167801 7316-454 BS_RAFVMB92 G G c.599C>T p.Pro200Leu p.P200L ENST00000430334 4/12 88 67 21 46 46 0 PLEKHM1,missense_variant,p.Pro200Leu,ENST00000430334,NM_014798.2;PLEKHM1,missense_variant,p.Pro70Leu,ENST00000584420,;PLEKHM1,missense_variant,p.Pro133Leu,ENST00000589780,;MIR4315-1,mature_miRNA_variant,,ENST00000636800,;PLEKHM1,intron_variant,,ENST00000582119,;PLEKHM1,downstream_gene_variant,,ENST00000586562,;PLEKHM1,missense_variant,p.Pro200Leu,ENST00000581448,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,3_prime_UTR_variant,,ENST00000446609,;PLEKHM1,downstream_gene_variant,,ENST00000581932,;PLEKHM1,downstream_gene_variant,,ENST00000586084,; A ENSG00000225190 ENST00000430334 Transcript missense_variant 733/5263 599/3171 200/1056 P/L cCg/cTg rs147167801 1 -1 PLEKHM1 HGNC HGNC:29017 protein_coding YES CCDS32671.1 ENSP00000389913 Q9Y4G2 UPI00001C1FC4 NM_014798.2 deleterious(0) probably_damaging(0.999) 4/12 hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5 0.0001166 MODERATE 1 SNV 1 1 PASS CGG . . 1.64e-05 2.989e-05 2.733e-05 45475424 MALT1 . GRCh38 chr18 58671741 58671741 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.98T>G p.Leu33Arg p.L33R ENST00000348428 1/17 136 126 5 32 32 0 MALT1,missense_variant,p.Leu33Arg,ENST00000348428,NM_006785.3;MALT1,missense_variant,p.Leu33Arg,ENST00000345724,NM_173844.2;MALT1,upstream_gene_variant,,ENST00000591792,;AC104971.1,non_coding_transcript_exon_variant,,ENST00000588144,NM_001289967.1;AC104365.1,downstream_gene_variant,,ENST00000587080,;AC104365.1,downstream_gene_variant,,ENST00000588835,;,regulatory_region_variant,,ENSR00000104000,; G ENSG00000172175 ENST00000348428 Transcript missense_variant 356/9368 98/2475 33/824 L/R cTg/cGg 1 1 MALT1 HGNC HGNC:6819 protein_coding YES CCDS11967.1 ENSP00000319279 Q9UDY8 UPI000004D05E NM_006785.3 deleterious(0) probably_damaging(0.99) 1/17 Gene3D:1.10.533.10,hmmpanther:PTHR22576,hmmpanther:PTHR22576:SF29,Superfamily_domains:SSF47986,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTG . . 58671741 ZNF407 . GRCh38 chr18 74632039 74632039 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.1020T>G p.Ser340Arg p.S340R ENST00000299687 1/8 74 62 11 45 44 0 ZNF407,missense_variant,p.Ser340Arg,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Ser340Arg,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.Ser340Arg,ENST00000582337,;ZNF407,missense_variant,p.Ser340Arg,ENST00000309902,NM_001146190.1;,regulatory_region_variant,,ENSR00000105002,; G ENSG00000215421 ENST00000299687 Transcript missense_variant 1020/7948 1020/6747 340/2248 S/R agT/agG 1 1 ZNF407 HGNC HGNC:19904 protein_coding YES CCDS45885.1 ENSP00000299687 Q9C0G0 UPI0000F58ED1 NM_017757.2 tolerated(0.12) benign(0.168) 1/8 Gene3D:2.40.155.10,hmmpanther:PTHR45148,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTA . . 74632039 FBN3 . GRCh38 chr19 8085462 8085462 + Missense_Mutation SNP G G A rs372443838 7316-454 BS_RAFVMB92 G G c.6988C>T p.Arg2330Trp p.R2330W ENST00000600128 56/64 105 77 28 40 40 0 FBN3,missense_variant,p.Arg2330Trp,ENST00000600128,NM_032447.4;FBN3,missense_variant,p.Arg2330Trp,ENST00000270509,;FBN3,missense_variant,p.Arg2330Trp,ENST00000601739,NM_001321431.1;FBN3,downstream_gene_variant,,ENST00000601281,;FBN3,upstream_gene_variant,,ENST00000595036,;FBN3,downstream_gene_variant,,ENST00000598269,;,regulatory_region_variant,,ENSR00000287268,; A ENSG00000142449 ENST00000600128 Transcript missense_variant 7403/9362 6988/8430 2330/2809 R/W Cgg/Tgg rs372443838 1 -1 FBN3 HGNC HGNC:18794 protein_coding YES CCDS12196.1 ENSP00000470498 Q75N90 UPI000013D88F NM_032447.4 deleterious(0.01) probably_damaging(0.999) 56/64 Low_complexity_(Seg):seg,PROSITE_profiles:PS51364,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,Superfamily_domains:SSF57581 0.0002304 MODERATE 1 SNV 1 PASS CGG . . 5.839e-05 3.666e-05 7.349e-05 6.159e-05 0.0002272 0.0001177 8085462 ZNF709 . GRCh38 chr19 12464516 12464516 + Missense_Mutation SNP A A T 7316-454 BS_RAFVMB92 A A c.1406T>A p.Ile469Asn p.I469N ENST00000397732 4/4 74 57 8 43 41 0 ZNF709,missense_variant,p.Ile469Asn,ENST00000397732,NM_152601.3;AC008758.1,missense_variant,p.Ile469Asn,ENST00000428311,;ZNF709,downstream_gene_variant,,ENST00000455490,;AC008758.2,downstream_gene_variant,,ENST00000420038,;AC008758.6,intron_variant,,ENST00000598753,; T ENSG00000242852 ENST00000397732 Transcript missense_variant 1578/4910 1406/1926 469/641 I/N aTt/aAt COSM6280509 1 -1 ZNF709 HGNC HGNC:20629 protein_coding YES CCDS42504.1 ENSP00000380840 Q8N972 UPI000006CF50 NM_152601.3 tolerated(0.06) benign(0.229) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR44539,hmmpanther:PTHR44539,hmmpanther:PTHR44539:SF2,hmmpanther:PTHR44539:SF2,PROSITE_patterns:PS00028,PIRSF_domain:PIRSF037162,PIRSF_domain:PIRSF037162,PIRSF_domain:PIRSF037162,Gene3D:2.40.155.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS AAT . . 12464516 SAMD1 . GRCh38 chr19 14090369 14090369 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.52A>C p.Thr18Pro p.T18P ENST00000533683 1/5 92 53 20 18 18 0 SAMD1,missense_variant,p.Thr18Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 340/2164 52/1299 18/432 T/P Acg/Ccg 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.063) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090369 SAMD1 . GRCh38 chr19 14090372 14090372 + Missense_Mutation SNP T T G rs987964190 7316-454 BS_RAFVMB92 T T c.49A>C p.Thr17Pro p.T17P ENST00000533683 1/5 92 62 14 19 19 0 SAMD1,missense_variant,p.Thr17Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 337/2164 49/1299 17/432 T/P Acc/Ccc rs987964190 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.336) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090372 ADGRE2 . GRCh38 chr19 14766987 14766987 + Missense_Mutation SNP G G C rs12976472 7316-454 BS_RAFVMB92 G G c.478C>G p.Leu160Val p.L160V ENST00000315576 6/21 47 25 21 19 18 1 ADGRE2,missense_variant,p.Leu160Val,ENST00000315576,NM_013447.3;ADGRE2,missense_variant,p.Leu160Val,ENST00000601345,;ADGRE2,missense_variant,p.Leu160Val,ENST00000596991,;ADGRE2,missense_variant,p.Leu160Val,ENST00000392965,NM_001271052.1;ADGRE2,missense_variant,p.Leu160Val,ENST00000594294,;ADGRE2,intron_variant,,ENST00000594076,;ADGRE2,intron_variant,,ENST00000595839,;ADGRE2,downstream_gene_variant,,ENST00000599423,;ADGRE2,downstream_gene_variant,,ENST00000601619,;ADGRE2,missense_variant,p.Leu53Val,ENST00000595208,;ADGRE2,missense_variant,p.Leu160Val,ENST00000392962,;ADGRE2,non_coding_transcript_exon_variant,,ENST00000360222,;ADGRE2,downstream_gene_variant,,ENST00000598500,; C ENSG00000127507 ENST00000315576 Transcript missense_variant 930/6767 478/2472 160/823 L/V Ctc/Gtc rs12976472,COSM3742780 1 -1 ADGRE2 HGNC HGNC:3337 protein_coding YES CCDS32935.1 ENSP00000319883 Q9UHX3 UPI000016393A NM_013447.3 tolerated(0.59) benign(0.046) 6/21 Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF328,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184 0.4002 0.2772 not_provided 0,1 MODERATE 1 SNV 1 0,1 1 PASS AGC . . 0.1384 0.3161 0.1652 0.09026 0.1475 0.08395 0.1607 0.1209 0.04348 14766987 ZNF90 . GRCh38 chr19 20118795 20118795 + Missense_Mutation SNP T T A novel 7316-454 BS_RAFVMB92 T T c.1241T>A p.Ile414Lys p.I414K ENST00000418063 4/4 55 41 5 41 39 0 ZNF90,missense_variant,p.Ile414Lys,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; A ENSG00000213988 ENST00000418063 Transcript missense_variant 1353/2310 1241/1806 414/601 I/K aTa/aAa 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATA . . 20118795 ZNF723 . GRCh38 chr19 22858237 22858237 + Missense_Mutation SNP A A T novel 7316-454 BS_RAFVMB92 A A c.1346A>T p.Lys449Ile p.K449I ENST00000600766 4/4 59 45 7 44 42 0 ZNF723,missense_variant,p.Lys449Ile,ENST00000600766,NM_001349726.1;VN1R88P,upstream_gene_variant,,ENST00000596787,; T ENSG00000268696 ENST00000600766 Transcript missense_variant 1405/1835 1346/1542 449/513 K/I aAa/aTa 1 1 ZNF723 HGNC HGNC:32286 protein_coding YES ENSP00000494306 P0DPD5 UPI0009ACDB03 NM_001349726.1 deleterious(0) benign(0.015) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 MODERATE 1 SNV PASS AAA . . 22858237 LRP3 . GRCh38 chr19 33194811 33194811 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.26T>G p.Leu9Arg p.L9R ENST00000253193 1/7 89 67 18 36 33 3 LRP3,missense_variant,p.Leu9Arg,ENST00000253193,NM_002333.3;LRP3,intron_variant,,ENST00000592484,;LRP3,upstream_gene_variant,,ENST00000590275,;,regulatory_region_variant,,ENSR00000108781,; G ENSG00000130881 ENST00000253193 Transcript missense_variant 228/3807 26/2313 9/770 L/R cTg/cGg 1 1 LRP3 HGNC HGNC:6695 protein_coding YES CCDS12430.1 ENSP00000253193 O75074 UPI0000047A9C NM_002333.3 tolerated_low_confidence(0.27) benign(0.005) 1/7 MODERATE 1 SNV 1 PASS CTG . . 33194811 SCN1B . GRCh38 chr19 35030822 35030822 + Translation_Start_Site SNP T T G novel 7316-454 BS_RAFVMB92 T T c.2T>G p.Met1? p.M1? ENST00000415950 1/3 94 74 15 44 42 1 SCN1B,start_lost,p.Met1?,ENST00000415950,NM_199037.4;SCN1B,start_lost,p.Met1?,ENST00000262631,;SCN1B,start_lost,p.Met1?,ENST00000638536,NM_001037.4;SCN1B,start_lost,p.Met1?,ENST00000595652,;GRAMD1A,downstream_gene_variant,,ENST00000317991,NM_001320034.1,NM_020895.4;GRAMD1A,downstream_gene_variant,,ENST00000411896,NM_001136199.2,NM_001320035.1;SCN1B,upstream_gene_variant,,ENST00000596348,NM_001321605.1;GRAMD1A,downstream_gene_variant,,ENST00000599564,NM_001320036.1;SCN1B,upstream_gene_variant,,ENST00000640135,;GRAMD1A,downstream_gene_variant,,ENST00000598118,;GRAMD1A,downstream_gene_variant,,ENST00000600231,;,regulatory_region_variant,,ENSR00000108936,; G ENSG00000105711 ENST00000415950 Transcript start_lost 110/4537 2/807 1/268 M/R aTg/aGg 1 1 SCN1B HGNC HGNC:10586 protein_coding YES CCDS46047.1 ENSP00000396915 Q07699 UPI00000473F0 NM_199037.4 deleterious_low_confidence(0) benign(0.151) 1/3 PROSITE_profiles:PS51257,hmmpanther:PTHR10546,hmmpanther:PTHR10546:SF2,Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 1 PASS ATG . . 35030822 ZC3H4 . GRCh38 chr19 47094451 47094451 + Missense_Mutation SNP G G A rs778721102 7316-454 BS_RAFVMB92 G G c.319C>T p.Arg107Trp p.R107W ENST00000253048 3/15 86 57 28 19 19 0 ZC3H4,missense_variant,p.Arg107Trp,ENST00000253048,NM_015168.1;ZC3H4,non_coding_transcript_exon_variant,,ENST00000594019,;ZC3H4,non_coding_transcript_exon_variant,,ENST00000597069,;ZC3H4,non_coding_transcript_exon_variant,,ENST00000595341,; A ENSG00000130749 ENST00000253048 Transcript missense_variant 357/6119 319/3912 107/1303 R/W Cgg/Tgg rs778721102 1 -1 ZC3H4 HGNC HGNC:17808 protein_coding YES CCDS42582.1 ENSP00000253048 Q9UPT8 UPI00001C2000 NM_015168.1 deleterious(0) benign(0.048) 3/15 hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF23,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CGT . . 4.061e-06 8.952e-06 47094451 CTU1 . GRCh38 chr19 51104289 51104289 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.281A>C p.Tyr94Ser p.Y94S ENST00000421832 2/3 112 102 10 46 46 0 CTU1,missense_variant,p.Tyr94Ser,ENST00000421832,NM_145232.3; G ENSG00000142544 ENST00000421832 Transcript missense_variant 326/2087 281/1047 94/348 Y/S tAc/tCc 1 -1 CTU1 HGNC HGNC:29590 protein_coding YES CCDS12824.1 ENSP00000390011 Q7Z7A3 UPI000013D897 NM_145232.3 deleterious(0) possibly_damaging(0.46) 2/3 HAMAP:MF_03053,cd01993,hmmpanther:PTHR11807,hmmpanther:PTHR11807:SF12,Pfam_domain:PF01171,PIRSF_domain:PIRSF004976,Gene3D:3.40.50.620,Superfamily_domains:SSF52402 MODERATE 1 SNV 2 PASS GTA . . 51104289 FIZ1 . GRCh38 chr19 55592501 55592501 + Missense_Mutation SNP G G C novel 7316-454 BS_RAFVMB92 G G c.1440C>G p.Ile480Met p.I480M ENST00000221665 3/3 110 81 29 24 24 0 FIZ1,missense_variant,p.Ile480Met,ENST00000221665,NM_032836.2;FIZ1,downstream_gene_variant,,ENST00000587678,;FIZ1,downstream_gene_variant,,ENST00000590714,;FIZ1,downstream_gene_variant,,ENST00000592585,;,regulatory_region_variant,,ENSR00000111682,; C ENSG00000179943 ENST00000221665 Transcript missense_variant 1530/2660 1440/1491 480/496 I/M atC/atG 1 -1 FIZ1 HGNC HGNC:25917 protein_coding YES CCDS12928.1 ENSP00000221665 Q96SL8 UPI000013C7D7 NM_032836.2 tolerated(0.05) probably_damaging(0.915) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24383:SF13,hmmpanther:PTHR24383,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TGA . . 55592501 ZCCHC3 . GRCh38 chr20 297622 297622 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.36A>C p.Lys12Asn p.K12N ENST00000500893 1/1 148 130 14 26 24 0 ZCCHC3,missense_variant,p.Lys12Asn,ENST00000500893,NM_033089.6;,regulatory_region_variant,,ENSR00000133395,;,TF_binding_site_variant,,PB0010.1,; C ENSG00000247315 ENST00000500893 Transcript missense_variant 655/3354 36/1212 12/403 K/N aaA/aaC 1 1 ZCCHC3 HGNC HGNC:16230 protein_coding YES CCDS42844.1 ENSP00000484056 Q9NUD5 UPI0000072273 NM_033089.6 tolerated_low_confidence(0.05) benign(0.017) 1/1 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV PASS AAC . . 297622 ZNF831 . GRCh38 chr20 59192811 59192811 + Missense_Mutation SNP G G A rs368767590 7316-454 BS_RAFVMB92 G G c.1792G>A p.Gly598Ser p.G598S ENST00000637017 4/8 122 108 14 49 48 0 ZNF831,missense_variant,p.Gly598Ser,ENST00000637017,;ZNF831,missense_variant,p.Gly598Ser,ENST00000371030,NM_178457.2; A ENSG00000124203 ENST00000637017 Transcript missense_variant 3341/10953 1792/5034 598/1677 G/S Ggc/Agc rs368767590,COSM4134707,COSM3548291 1 1 ZNF831 HGNC HGNC:16167 protein_coding YES CCDS42894.1 ENSP00000490240 Q5JPB2 UPI00001D82E4 tolerated(0.46) benign(0.007) 4/8 hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CGG . . 8.316e-06 1.848e-05 59192811 CHRNA4 . GRCh38 chr20 63350447 63350447 + Missense_Mutation SNP C C G 7316-454 BS_RAFVMB92 C C c.964G>C p.Val322Leu p.V322L ENST00000370263 5/6 107 93 11 32 32 0 CHRNA4,missense_variant,p.Val251Leu,ENST00000615287,NM_001256573.1;CHRNA4,missense_variant,p.Val322Leu,ENST00000370263,NM_000744.6;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,downstream_gene_variant,,ENST00000628665,;CHRNA4,downstream_gene_variant,,ENST00000636652,;CHRNA4,downstream_gene_variant,,ENST00000637243,;CHRNA4,downstream_gene_variant,,ENST00000637628,;CHRNA4,3_prime_UTR_variant,,ENST00000627000,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000630240,;CHRNA4,upstream_gene_variant,,ENST00000631289,; G ENSG00000101204 ENST00000370263 Transcript missense_variant 1142/5577 964/1884 322/627 V/L Gtc/Ctc COSM4672267 1 -1 CHRNA4 HGNC HGNC:1958 protein_coding YES CCDS13517.1 ENSP00000359285 P43681 UPI000012523B NM_000744.6 deleterious(0.01) benign(0.031) 5/6 Gene3D:1.20.58.390,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF401,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix 1 MODERATE 1 SNV 1 1 1 PASS ACG . . 63350447 RUNX1 . GRCh38 chr21 34792308 34792308 + Missense_Mutation SNP A A C novel 7316-454 BS_RAFVMB92 A A c.1270T>G p.Ser424Ala p.S424A ENST00000300305 8/8 80 51 12 38 36 1 RUNX1,missense_variant,p.Ser397Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Ser424Ala,ENST00000300305,;RUNX1,missense_variant,p.Ser424Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser333Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1715/6222 1270/1443 424/480 S/A Tcg/Gcg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) possibly_damaging(0.453) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS GAG . . 34792308 RUNX1 . GRCh38 chr21 34792313 34792313 + Missense_Mutation SNP T T G novel 7316-454 BS_RAFVMB92 T T c.1265A>C p.Glu422Ala p.E422A ENST00000300305 8/8 81 48 10 37 35 2 RUNX1,missense_variant,p.Glu395Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Glu422Ala,ENST00000300305,;RUNX1,missense_variant,p.Glu422Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Glu331Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; G ENSG00000159216 ENST00000300305 Transcript missense_variant 1710/6222 1265/1443 422/480 E/A gAg/gCg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) benign(0.079) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS CTC . . 34792313 ZC3H7B . GRCh38 chr22 41349253 41349253 + Missense_Mutation SNP G G C 7316-454 BS_RAFVMB92 G G c.1900G>C p.Ala634Pro p.A634P ENST00000352645 16/23 66 41 25 33 31 1 ZC3H7B,missense_variant,p.Ala634Pro,ENST00000352645,NM_017590.5; C ENSG00000100403 ENST00000352645 Transcript missense_variant 2157/5909 1900/2934 634/977 A/P Gcc/Ccc COSM4847581 1 1 ZC3H7B HGNC HGNC:30869 protein_coding YES CCDS14013.1 ENSP00000345793 Q9UGR2 UPI000002B2AD NM_017590.5 deleterious(0) probably_damaging(0.973) 16/23 PROSITE_profiles:PS50103,hmmpanther:PTHR14928:SF6,hmmpanther:PTHR14928,Gene3D:4.10.1000.10,SMART_domains:SM00356 1 MODERATE 1 SNV 1 1 PASS CGC . . 41349253 SBF1 . GRCh38 chr22 50464404 50464404 + Missense_Mutation SNP G G T 7316-454 BS_RAFVMB92 G G c.1674C>A p.Asn558Lys p.N558K ENST00000380817 15/41 73 47 25 30 30 0 SBF1,missense_variant,p.Asn558Lys,ENST00000380817,NM_002972.3;SBF1,missense_variant,p.Asn559Lys,ENST00000348911,;SBF1,downstream_gene_variant,,ENST00000399627,;SBF1,downstream_gene_variant,,ENST00000477234,; T ENSG00000100241 ENST00000380817 Transcript missense_variant 1858/8008 1674/5682 558/1893 N/K aaC/aaA COSM6095521,COSM6095520,COSM479125,COSM1136892 1 -1 SBF1 HGNC HGNC:10542 protein_coding YES CCDS14091.2 ENSP00000370196 O95248 UPI00001D69ED NM_002972.3 deleterious(0) probably_damaging(0.994) 15/41 hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Pfam_domain:PF12335 1,1,1,1 MODERATE 1 SNV 1 1,1,1,1 1 PASS TGT . . 50464404 RBMXL3 . GRCh38 chrX 115190688 115190688 + Missense_Mutation SNP A A G novel 7316-454 BS_RAFVMB92 A A c.1247A>G p.His416Arg p.H416R ENST00000424776 1/1 44 34 5 21 19 0 RBMXL3,missense_variant,p.His416Arg,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1; G ENSG00000175718 ENST00000424776 Transcript missense_variant 1262/3442 1247/3204 416/1067 H/R cAc/cGc 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.94) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 MODERATE SNV PASS CAC . . 115190688 MAGEC1 . GRCh38 chrX 141906035 141906035 + Missense_Mutation SNP T T G rs79905587 7316-454 BS_RAFVMB92 T T c.631T>G p.Leu211Val p.L211V ENST00000285879 4/4 41 33 7 20 20 0 MAGEC1,missense_variant,p.Leu211Val,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; G ENSG00000155495 ENST00000285879 Transcript missense_variant 917/4270 631/3429 211/1142 L/V Ttg/Gtg rs79905587,COSM6285928 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 deleterious_low_confidence(0.01) benign(0.364) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 0.0191 0.0259 0.0076 0.0026 0.0352 0.0181 0.01304 0.02245 0,1 MODERATE 1 SNV 1 0,1 PASS ATT . . 0.008371 0.001979 0.003999 0.0389 0.002422 0.01193 0.00949 0.01249 0.002174 141906035 SPEN . GRCh38 chr1 15935976 15935976 + Missense_Mutation SNP A A C rs769360962 7316-872 BS_ZDBEHEPY A A c.9736A>C p.Thr3246Pro p.T3246P ENST00000375759 11/15 49 38 9 19 18 1 SPEN,missense_variant,p.Thr3246Pro,ENST00000375759,NM_015001.2;SPEN,upstream_gene_variant,,ENST00000487496,; C ENSG00000065526 ENST00000375759 Transcript missense_variant 9940/12232 9736/10995 3246/3664 T/P Acc/Ccc rs769360962,COSM4142939 1 1 SPEN HGNC HGNC:17575 protein_coding YES CCDS164.1 ENSP00000364912 Q96T58 UPI000006FF0C NM_015001.2 tolerated(0.25) benign(0) 11/15 hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF48,mobidb-lite,Low_complexity_(Seg):seg benign 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAC . . 0.05216 0.04359 0.01727 0.01483 0.02934 0.1426 0.07687 0.02243 0.01768 15935976 NBPF25P . GRCh38 chr1 145574818 145574818 + Splice_Region SNP C C T rs1476250610 7316-872 BS_ZDBEHEPY C C n.2232+3G>A ENST00000619932 102 72 30 45 44 1 NBPF25P,splice_region_variant,,ENST00000619932,;NBPF25P,splice_region_variant,,ENST00000606775,; T ENSG00000272150 ENST00000619932 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1476250610 1 -1 NBPF25P HGNC HGNC:45046 processed_transcript YES 18/19 LOW 1 SNV 2 PASS TCA . . 145574818 NBPF11 . GRCh38 chr1 148118674 148118674 + Missense_Mutation SNP C C A rs6666178 7316-872 BS_ZDBEHEPY C C c.1037G>T p.Arg346Leu p.R346L ENST00000615281 11/24 80 67 12 41 39 0 NBPF11,missense_variant,p.Arg346Leu,ENST00000615281,NM_183372.5;NBPF11,missense_variant,p.Arg346Leu,ENST00000614015,NM_001101663.4;NBPF11,missense_variant,p.Arg311Leu,ENST00000614785,;NBPF11,missense_variant,p.Arg271Leu,ENST00000613531,;NBPF11,missense_variant,p.Arg271Leu,ENST00000614506,; A ENSG00000263956 ENST00000615281 Transcript missense_variant 2188/5494 1037/2598 346/865 R/L cGa/cTa rs6666178 1 -1 NBPF11 HGNC HGNC:31993 protein_coding YES CCDS41381.2 ENSP00000477509 Q86T75 UPI0000198783 NM_183372.5 tolerated(1) benign(0.001) 11/24 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF28 MODERATE 1 SNV 1 PASS TCG . . 148118674 PCBP1-AS1 . GRCh38 chr2 69998138 69998139 + Splice_Region INS - - A rs529702151 7316-872 BS_ZDBEHEPY - - n.705-5dup ENST00000630283 85 61 15 32 28 0 PCBP1-AS1,splice_region_variant,,ENST00000630283,;PCBP1-AS1,intron_variant,,ENST00000411429,;PCBP1-AS1,intron_variant,,ENST00000413436,;PCBP1-AS1,intron_variant,,ENST00000415222,;PCBP1-AS1,intron_variant,,ENST00000418308,;PCBP1-AS1,intron_variant,,ENST00000418564,;PCBP1-AS1,intron_variant,,ENST00000419542,;PCBP1-AS1,intron_variant,,ENST00000419963,;PCBP1-AS1,intron_variant,,ENST00000420309,;PCBP1-AS1,intron_variant,,ENST00000423402,;PCBP1-AS1,intron_variant,,ENST00000434781,;PCBP1-AS1,intron_variant,,ENST00000435880,;PCBP1-AS1,intron_variant,,ENST00000452431,;PCBP1-AS1,intron_variant,,ENST00000456161,;PCBP1-AS1,intron_variant,,ENST00000457076,;PCBP1-AS1,intron_variant,,ENST00000594376,;PCBP1-AS1,intron_variant,,ENST00000596028,;PCBP1-AS1,intron_variant,,ENST00000598586,;PCBP1-AS1,intron_variant,,ENST00000599673,;PCBP1-AS1,intron_variant,,ENST00000601431,;PCBP1-AS1,intron_variant,,ENST00000612430,;PCBP1-AS1,intron_variant,,ENST00000617142,;PCBP1-AS1,intron_variant,,ENST00000625215,;PCBP1-AS1,intron_variant,,ENST00000625227,;PCBP1-AS1,intron_variant,,ENST00000625447,;PCBP1-AS1,intron_variant,,ENST00000625490,;PCBP1-AS1,intron_variant,,ENST00000625625,;PCBP1-AS1,intron_variant,,ENST00000625691,;PCBP1-AS1,intron_variant,,ENST00000625783,;PCBP1-AS1,intron_variant,,ENST00000625838,;PCBP1-AS1,intron_variant,,ENST00000625864,;PCBP1-AS1,intron_variant,,ENST00000625888,;PCBP1-AS1,intron_variant,,ENST00000626162,;PCBP1-AS1,intron_variant,,ENST00000626343,;PCBP1-AS1,intron_variant,,ENST00000626370,;PCBP1-AS1,intron_variant,,ENST00000626440,;PCBP1-AS1,intron_variant,,ENST00000626495,;PCBP1-AS1,intron_variant,,ENST00000626515,;PCBP1-AS1,intron_variant,,ENST00000626574,;PCBP1-AS1,intron_variant,,ENST00000626609,;PCBP1-AS1,intron_variant,,ENST00000626632,;PCBP1-AS1,intron_variant,,ENST00000626735,;PCBP1-AS1,intron_variant,,ENST00000626769,;PCBP1-AS1,intron_variant,,ENST00000626834,;PCBP1-AS1,intron_variant,,ENST00000626842,;PCBP1-AS1,intron_variant,,ENST00000626898,;PCBP1-AS1,intron_variant,,ENST00000627037,;PCBP1-AS1,intron_variant,,ENST00000627050,;PCBP1-AS1,intron_variant,,ENST00000627074,;PCBP1-AS1,intron_variant,,ENST00000627181,;PCBP1-AS1,intron_variant,,ENST00000627189,;PCBP1-AS1,intron_variant,,ENST00000627325,;PCBP1-AS1,intron_variant,,ENST00000627327,;PCBP1-AS1,intron_variant,,ENST00000627398,;PCBP1-AS1,intron_variant,,ENST00000627542,;PCBP1-AS1,intron_variant,,ENST00000627918,;PCBP1-AS1,intron_variant,,ENST00000628147,;PCBP1-AS1,intron_variant,,ENST00000628201,;PCBP1-AS1,intron_variant,,ENST00000628305,;PCBP1-AS1,intron_variant,,ENST00000628308,;PCBP1-AS1,intron_variant,,ENST00000628322,;PCBP1-AS1,intron_variant,,ENST00000628374,;PCBP1-AS1,intron_variant,,ENST00000628455,;PCBP1-AS1,intron_variant,,ENST00000628551,;PCBP1-AS1,intron_variant,,ENST00000628659,;PCBP1-AS1,intron_variant,,ENST00000628667,;PCBP1-AS1,intron_variant,,ENST00000628837,;PCBP1-AS1,intron_variant,,ENST00000628883,;PCBP1-AS1,intron_variant,,ENST00000628920,;PCBP1-AS1,intron_variant,,ENST00000629084,;PCBP1-AS1,intron_variant,,ENST00000629178,;PCBP1-AS1,intron_variant,,ENST00000629184,;PCBP1-AS1,intron_variant,,ENST00000629188,;PCBP1-AS1,intron_variant,,ENST00000629212,;PCBP1-AS1,intron_variant,,ENST00000629304,;PCBP1-AS1,intron_variant,,ENST00000629339,;PCBP1-AS1,intron_variant,,ENST00000629374,;PCBP1-AS1,intron_variant,,ENST00000629407,;PCBP1-AS1,intron_variant,,ENST00000629415,;PCBP1-AS1,intron_variant,,ENST00000629485,;PCBP1-AS1,intron_variant,,ENST00000629506,;PCBP1-AS1,intron_variant,,ENST00000629533,;PCBP1-AS1,intron_variant,,ENST00000629603,;PCBP1-AS1,intron_variant,,ENST00000629605,;PCBP1-AS1,intron_variant,,ENST00000629836,;PCBP1-AS1,intron_variant,,ENST00000629909,;PCBP1-AS1,intron_variant,,ENST00000630214,;PCBP1-AS1,intron_variant,,ENST00000630280,;PCBP1-AS1,intron_variant,,ENST00000630457,;PCBP1-AS1,intron_variant,,ENST00000630522,;PCBP1-AS1,intron_variant,,ENST00000630685,;PCBP1-AS1,intron_variant,,ENST00000630746,;PCBP1-AS1,intron_variant,,ENST00000630759,;PCBP1-AS1,intron_variant,,ENST00000630975,;PCBP1-AS1,intron_variant,,ENST00000630985,;PCBP1-AS1,intron_variant,,ENST00000631107,;PCBP1-AS1,intron_variant,,ENST00000631110,; A ENSG00000179818 ENST00000630283 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs529702151 1 -1 PCBP1-AS1 HGNC HGNC:42948 antisense 5/6 0.3353 0.5212 0.3573 0.3294 0.0875 0.3292 LOW insertion 5 PASS AGA . . 69998138 MOGAT1 . GRCh38 chr2 222689269 222689269 + Missense_Mutation SNP T T C novel 7316-872 BS_ZDBEHEPY T T c.278T>C p.Ile93Thr p.I93T ENST00000446656 3/6 92 83 7 39 39 0 MOGAT1,missense_variant,p.Ile93Thr,ENST00000446656,NM_058165.2;,regulatory_region_variant,,ENSR00000130827,; C ENSG00000124003 ENST00000446656 Transcript missense_variant 278/1048 278/1008 93/335 I/T aTc/aCc 1 1 MOGAT1 HGNC HGNC:18210 protein_coding YES CCDS46524.1 ENSP00000406674 Q96PD6 UPI000013D50F NM_058165.2 deleterious(0) possibly_damaging(0.616) 3/6 cd07987,hmmpanther:PTHR12317:SF26,hmmpanther:PTHR12317,Pfam_domain:PF03982 MODERATE 1 SNV 5 PASS ATC . . 222689269 SETD2 . GRCh38 chr3 47098036 47098037 + Frame_Shift_Ins INS - - C novel 7316-872 BS_ZDBEHEPY - - c.5060dup p.Tyr1688LeufsTer24 p.Y1688Lfs*24 ENST00000409792 9/21 69 49 15 42 40 0 SETD2,frameshift_variant,p.Tyr1688LeufsTer24,ENST00000409792,NM_014159.6,NM_001349370.1;SETD2,frameshift_variant,p.Tyr238LeufsTer24,ENST00000638947,;SETD2,frameshift_variant,p.Tyr1322LeufsTer24,ENST00000445387,;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;SETD2,non_coding_transcript_exon_variant,,ENST00000484689,; C ENSG00000181555 ENST00000409792 Transcript frameshift_variant 5103-5104/8142 5060-5061/7695 1687/2564 G/GX ggt/ggGt 1 -1 SETD2 HGNC HGNC:18420 protein_coding YES CCDS2749.2 ENSP00000386759 Q9BYW2 UPI00017E10FB NM_014159.6,NM_001349370.1 9/21 PROSITE_profiles:PS50868,hmmpanther:PTHR22884:SF468,hmmpanther:PTHR22884,Gene3D:2.170.270.10,SMART_domains:SM00508,Superfamily_domains:SSF82199 HIGH 1 insertion 5 1 PASS AAC . . 47098036 CASR . GRCh38 chr3 122275971 122275971 + Missense_Mutation SNP G G A rs866241407 7316-872 BS_ZDBEHEPY G G c.1537G>A p.Val513Ile p.V513I ENST00000498619 5/7 70 62 6 39 36 0 CASR,missense_variant,p.Val513Ile,ENST00000639785,NM_000388.3;CASR,missense_variant,p.Val513Ile,ENST00000638421,;CASR,missense_variant,p.Val513Ile,ENST00000498619,NM_001178065.1;CASR,intron_variant,,ENST00000490131,; A ENSG00000036828 ENST00000498619 Transcript missense_variant 1975/5009 1537/3267 513/1088 V/I Gtc/Atc rs866241407,COSM300746 1 1 CASR HGNC HGNC:1514 protein_coding YES CCDS54632.1 ENSP00000420194 P41180 E7ENE0 UPI000020A065 NM_001178065.1 tolerated(0.11) benign(0.005) 5/7 cd06364,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Superfamily_domains:SSF53822,Prints_domain:PR00592 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGT . . 122275971 PCDHB11 . GRCh38 chr5 141201368 141201368 + Missense_Mutation SNP G G A rs138686663 7316-872 BS_ZDBEHEPY G G c.1594G>A p.Gly532Ser p.G532S ENST00000354757 1/1 77 60 16 40 36 1 PCDHB11,missense_variant,p.Gly532Ser,ENST00000354757,NM_018931.2;PCDHB11,missense_variant,p.Gly167Ser,ENST00000624887,;AC244517.4,non_coding_transcript_exon_variant,,ENST00000624549,;AC244517.11,intron_variant,,ENST00000624192,;,regulatory_region_variant,,ENSR00000317583,; A ENSG00000197479 ENST00000354757 Transcript missense_variant 1787/4198 1594/2394 532/797 G/S Ggc/Agc rs138686663,COSM222473 1 1 PCDHB11 HGNC HGNC:8682 protein_coding YES CCDS4253.1 ENSP00000346802 Q9Y5F2 UPI00001273E6 NM_018931.2 deleterious_low_confidence(0.03) benign(0.327) 1/1 Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 0,1 MODERATE SNV 0,1 PASS GGG . . 0.001896 0.00378 0.001309 0.001033 0.0001749 0.008249 0.001476 0.001316 3.278e-05 141201368 NCR2 . GRCh38 chr6 41335907 41335909 + In_Frame_Del DEL CTG CTG - rs770304659 7316-872 BS_ZDBEHEPY CTG CTG c.43_45del p.Leu15del p.L15del ENST00000373089 1/5 82 73 5 36 33 0 NCR2,inframe_deletion,p.Leu15del,ENST00000373083,NM_001199510.1;NCR2,inframe_deletion,p.Leu15del,ENST00000373086,NM_001199509.1;NCR2,inframe_deletion,p.Leu15del,ENST00000373089,NM_004828.3; - ENSG00000096264 ENST00000373089 Transcript inframe_deletion 119-121/942 31-33/831 11/276 L/- CTG/- rs770304659,COSM5835213,COSM1487748 1 1 NCR2 HGNC HGNC:6732 protein_coding YES CCDS4855.1 ENSP00000362181 O95944 UPI000006DFB0 NM_004828.3 1/5 hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF7,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0.0113 0.01437 0,1,1 MODERATE 1 deletion 1 12 0,1,1 PASS TACTGC . . 0.0006302 0.0009223 0.000519 0.0002424 0.0004153 0.0003732 0.0009061 0.0003349 41335906 TBP . GRCh38 chr6 170561950 170561952 + In_Frame_Del DEL CAA CAA - rs71815788 7316-872 BS_ZDBEHEPY CAA CAA c.216_218del p.Gln95del p.Q95del ENST00000392092 3/8 74 66 8 38 38 0 TBP,inframe_deletion,p.Gln95del,ENST00000392092,NM_003194.4;TBP,inframe_deletion,p.Gln95del,ENST00000230354,;TBP,inframe_deletion,p.Gln75del,ENST00000540980,NM_001172085.1;TBP,inframe_deletion,p.Gln95del,ENST00000421512,;TBP,inframe_deletion,p.Gln95del,ENST00000423353,;TBP,intron_variant,,ENST00000616883,;TBP,inframe_deletion,p.Gln95del,ENST00000636632,; - ENSG00000112592 ENST00000392092 Transcript inframe_deletion 493-495/1903 214-216/1020 72/339 Q/- CAA/- rs71815788,COSM69132 1 1 TBP HGNC HGNC:11588 protein_coding YES CCDS5315.1 ENSP00000375942 P20226 UPI0000136C3F NM_003194.4 3/8 Gene3D:2.80.10.50,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10126,hmmpanther:PTHR10126:SF20,Low_complexity_(Seg):seg 0,1 MODERATE 1 deletion 1 2 0,1 1 PASS AGCAAC . . 0.267 0.3828 0.3473 0.2207 0.4385 0.1255 0.2247 0.2774 0.2519 170561949 PAX4 . GRCh38 chr7 127613830 127613830 + Missense_Mutation SNP C C T rs375269956 7316-872 BS_ZDBEHEPY C C c.464G>A p.Arg155Gln p.R155Q ENST00000341640 4/9 81 54 26 32 32 0 PAX4,missense_variant,p.Arg163Gln,ENST00000639438,;PAX4,missense_variant,p.Arg155Gln,ENST00000341640,NM_006193.2;PAX4,missense_variant,p.Arg153Gln,ENST00000463946,;PAX4,missense_variant,p.Arg153Gln,ENST00000611453,;PAX4,missense_variant,p.Arg163Gln,ENST00000378740,;PAX4,missense_variant,p.Arg163Gln,ENST00000338516,;PAX4,missense_variant,p.Arg153Gln,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,; T ENSG00000106331 ENST00000341640 Transcript missense_variant 670/2010 464/1032 155/343 R/Q cGg/cAg rs375269956 1 -1 PAX4 HGNC HGNC:8618 protein_coding YES CCDS5797.1 ENSP00000339906 O43316 UPI000013C824 NM_006193.2 tolerated(0.22) benign(0.143) 4/9 hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF14,mobidb-lite 0.0003488 MODERATE 1 SNV 1 1 PASS CCG . . 0.0001096 0.0001787 8.973e-05 0.0001701 127613830 ACTR3B . GRCh38 chr7 152823405 152823405 + Missense_Mutation SNP C C T rs140327402 7316-872 BS_ZDBEHEPY C C c.748C>T p.Arg250Trp p.R250W ENST00000256001 8/12 99 85 13 44 44 0 ACTR3B,missense_variant,p.Arg250Trp,ENST00000256001,NM_020445.5;ACTR3B,missense_variant,p.Arg162Trp,ENST00000397282,;ACTR3B,missense_variant,p.Arg250Trp,ENST00000377776,NM_001040135.2;ACTR3B,non_coding_transcript_exon_variant,,ENST00000479402,;,regulatory_region_variant,,ENSR00000329149,; T ENSG00000133627 ENST00000256001 Transcript missense_variant 882/2216 748/1257 250/418 R/W Cgg/Tgg rs140327402,COSM1318993 1 1 ACTR3B HGNC HGNC:17256 protein_coding YES CCDS5934.1 ENSP00000256001 Q9P1U1 UPI0000073AC7 NM_020445.5 tolerated(0.06) benign(0) 8/12 Gene3D:3.90.640.10,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF170,SMART_domains:SM00268,Superfamily_domains:SSF53067 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 0.02352 0.002886 0.006846 0.03728 0.001517 0.04459 0.02444 0.02508 0.04427 152823405 SLC35G5 . GRCh38 chr8 11332020 11332020 + Missense_Mutation SNP T T C rs62488716 7316-872 BS_ZDBEHEPY T T c.914T>C p.Val305Ala p.V305A ENST00000382435 1/1 62 51 9 36 32 0 SLC35G5,missense_variant,p.Val305Ala,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; C ENSG00000177710 ENST00000382435 Transcript missense_variant 1133/1321 914/1017 305/338 V/A gTg/gCg rs62488716,COSM4593558 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.35) possibly_damaging(0.484) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481 0,1 MODERATE SNV 0,1 PASS GTG . . 0.001862 0.0001339 0.0009706 0.0006698 0.004659 0.003283 0.001965 0.001793 0.001478 11332020 SLC35G5 . GRCh38 chr8 11332082 11332082 + Missense_Mutation SNP C C T rs62488717 7316-872 BS_ZDBEHEPY C C c.976C>T p.Arg326Trp p.R326W ENST00000382435 1/1 67 56 8 52 50 0 SLC35G5,missense_variant,p.Arg326Trp,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; T ENSG00000177710 ENST00000382435 Transcript missense_variant 1195/1321 976/1017 326/338 R/W Cgg/Tgg rs62488717,COSM3718698 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.17) benign(0) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 MODERATE SNV 0,1 PASS CCG . . 0.2934 0.1711 0.2975 0.3221 0.2793 0.3895 0.2956 0.2607 0.2856 11332082 COL22A1 . GRCh38 chr8 138685305 138685305 + Missense_Mutation SNP G G A rs1269287631 7316-872 BS_ZDBEHEPY G G c.2870C>T p.Ala957Val p.A957V ENST00000303045 38/65 86 81 5 26 25 0 COL22A1,missense_variant,p.Ala957Val,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Ala670Val,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,; A ENSG00000169436 ENST00000303045 Transcript missense_variant 3317/6346 2870/4881 957/1626 A/V gCg/gTg rs1269287631,COSM5225899 1 -1 COL22A1 HGNC HGNC:22989 protein_coding YES CCDS6376.1 ENSP00000303153 Q8NFW1 UPI00001C1EA1 NM_152888.2 tolerated(0.15) benign(0.017) 38/65 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF845 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 8.157e-06 6.515e-05 138685305 MMRN2 . GRCh38 chr10 86943604 86943604 + Missense_Mutation SNP A A C 7316-872 BS_ZDBEHEPY A A c.1180T>G p.Leu394Val p.L394V ENST00000372027 6/7 78 68 6 34 30 1 MMRN2,missense_variant,p.Leu394Val,ENST00000372027,NM_024756.2;MMRN2,downstream_gene_variant,,ENST00000474994,;MMRN2,downstream_gene_variant,,ENST00000609457,;MMRN2,downstream_gene_variant,,ENST00000610081,;MMRN2,downstream_gene_variant,,ENST00000488950,;MMRN2,downstream_gene_variant,,ENST00000608090,;MMRN2,downstream_gene_variant,,ENST00000608753,; C ENSG00000173269 ENST00000372027 Transcript missense_variant 1502/4375 1180/2850 394/949 L/V Ttg/Gtg COSM4963512 1 -1 MMRN2 HGNC HGNC:19888 protein_coding YES CCDS7379.1 ENSP00000361097 Q9H8L6 UPI000013F046 NM_024756.2 tolerated(0.24) benign(0.005) 6/7 hmmpanther:PTHR15427:SF6,hmmpanther:PTHR15427,Gene3D:1.20.5.50 1 MODERATE 1 SNV 1 1 PASS AAC . . 86943604 AL161752.1 . GRCh38 chr14 44392693 44392694 + Splice_Region INS - - A rs555883113 7316-872 BS_ZDBEHEPY - - n.104-4dup ENST00000557721 77 67 5 37 33 0 AL161752.1,splice_region_variant,,ENST00000557506,;AL161752.1,splice_region_variant,,ENST00000557721,; A ENSG00000259126 ENST00000557721 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs555883113 1 -1 AL161752.1 Clone_based_ensembl_gene lincRNA YES 1/1 LOW 1 insertion 2 PASS TGA . . 44392693 ITGB4 . GRCh38 chr17 75752309 75752309 + Missense_Mutation SNP G G A rs750917868 7316-872 BS_ZDBEHEPY G G c.3929G>A p.Arg1310Gln p.R1310Q ENST00000200181 31/40 85 66 19 25 23 0 ITGB4,missense_variant,p.Arg1310Gln,ENST00000200181,NM_000213.4;ITGB4,missense_variant,p.Arg1310Gln,ENST00000449880,NM_001005619.1;ITGB4,missense_variant,p.Arg1310Gln,ENST00000450894,NM_001005731.2;ITGB4,missense_variant,p.Arg1310Gln,ENST00000579662,NM_001321123.1;GALK1,intron_variant,,ENST00000225614,;ITGB4,intron_variant,,ENST00000582629,;ITGB4,upstream_gene_variant,,ENST00000578318,;ITGB4,upstream_gene_variant,,ENST00000584939,;ITGB4,non_coding_transcript_exon_variant,,ENST00000583327,;GALK1,intron_variant,,ENST00000589643,;ITGB4,upstream_gene_variant,,ENST00000579211,;ITGB4,downstream_gene_variant,,ENST00000584025,; A ENSG00000132470 ENST00000200181 Transcript missense_variant 4116/5919 3929/5469 1310/1822 R/Q cGg/cAg rs750917868,COSM6688274,COSM6688273 1 1 ITGB4 HGNC HGNC:6158 protein_coding YES CCDS11727.1 ENSP00000200181 P16144 A0A024R8T0 UPI00001AE5C0 NM_000213.4 deleterious(0) probably_damaging(0.984) 31/40 Gene3D:2.60.40.10,PIRSF_domain:PIRSF002513,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265,cd00063 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CGG . . 4.085e-06 9.039e-06 75752309 MADCAM1 . GRCh38 chr19 501695 501695 + Missense_Mutation SNP C C T rs77685069 7316-872 BS_ZDBEHEPY C C c.694C>T p.Pro232Ser p.P232S ENST00000215637 4/5 79 62 13 27 25 0 MADCAM1,missense_variant,p.Pro13Ser,ENST00000587541,;MADCAM1,missense_variant,p.Pro232Ser,ENST00000215637,NM_130760.2;MADCAM1,missense_variant,p.Pro256Ser,ENST00000613880,;MADCAM1,missense_variant,p.Pro250Ser,ENST00000617201,;MADCAM1,missense_variant,p.Pro248Ser,ENST00000619333,;MADCAM1,missense_variant,p.Pro240Ser,ENST00000622462,;MADCAM1,missense_variant,p.Pro250Ser,ENST00000621286,;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.1,intron_variant,,ENST00000592413,;MADCAM1,downstream_gene_variant,,ENST00000622449,;,regulatory_region_variant,,ENSR00000286952,; T ENSG00000099866 ENST00000215637 Transcript missense_variant 740/1572 694/1149 232/382 P/S Cct/Tct rs77685069,COSM5509617 1 1 MADCAM1 HGNC HGNC:6765 protein_coding YES CCDS12028.1 ENSP00000215637 Q13477 UPI000013C68F NM_130760.2 tolerated(0.06) benign(0.131) 4/5 hmmpanther:PTHR14162,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 1.361e-05 7.538e-05 7.11e-05 9.799e-06 501695 CYP2A13 . GRCh38 chr19 41091897 41091897 + Missense_Mutation SNP C C T rs145048388 7316-872 BS_ZDBEHEPY C C c.820C>T p.Arg274Cys p.R274C ENST00000330436 5/9 75 56 18 33 32 0 CYP2A13,missense_variant,p.Arg274Cys,ENST00000330436,NM_000766.4; T ENSG00000197838 ENST00000330436 Transcript missense_variant 820/1739 820/1485 274/494 R/C Cgc/Tgc rs145048388,COSM3226590 1 1 CYP2A13 HGNC HGNC:2608 protein_coding YES CCDS12571.1 ENSP00000332679 Q16696 UPI000013E07A NM_000766.4 deleterious(0.01) benign(0.047) 5/9 Gene3D:1.10.630.10,PDB-ENSP_mappings:2p85.A,PDB-ENSP_mappings:2p85.B,PDB-ENSP_mappings:2p85.C,PDB-ENSP_mappings:2p85.D,PDB-ENSP_mappings:2p85.E,PDB-ENSP_mappings:2p85.F,PDB-ENSP_mappings:2pg5.A,PDB-ENSP_mappings:2pg5.B,PDB-ENSP_mappings:2pg5.C,PDB-ENSP_mappings:2pg5.D,PDB-ENSP_mappings:2pg6.A,PDB-ENSP_mappings:2pg6.B,PDB-ENSP_mappings:2pg6.C,PDB-ENSP_mappings:2pg6.D,PDB-ENSP_mappings:2pg7.A,PDB-ENSP_mappings:2pg7.B,PDB-ENSP_mappings:2pg7.C,PDB-ENSP_mappings:2pg7.D,PDB-ENSP_mappings:3t3s.A,PDB-ENSP_mappings:3t3s.B,PDB-ENSP_mappings:3t3s.C,PDB-ENSP_mappings:3t3s.D,PDB-ENSP_mappings:3t3s.E,PDB-ENSP_mappings:3t3s.F,PDB-ENSP_mappings:3t3s.G,PDB-ENSP_mappings:3t3s.H,PDB-ENSP_mappings:4ejg.A,PDB-ENSP_mappings:4ejg.B,PDB-ENSP_mappings:4ejg.C,PDB-ENSP_mappings:4ejg.D,PDB-ENSP_mappings:4ejg.E,PDB-ENSP_mappings:4ejg.F,PDB-ENSP_mappings:4ejg.G,PDB-ENSP_mappings:4ejg.H,PDB-ENSP_mappings:4ejh.A,PDB-ENSP_mappings:4ejh.B,PDB-ENSP_mappings:4ejh.C,PDB-ENSP_mappings:4ejh.D,PDB-ENSP_mappings:4ejh.E,PDB-ENSP_mappings:4ejh.F,PDB-ENSP_mappings:4ejh.G,PDB-ENSP_mappings:4ejh.H,PDB-ENSP_mappings:4eji.A,Pfam_domain:PF00067,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF180,Superfamily_domains:SSF48264 0.0003488 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 0.0001463 0.0005063 0.0008128 8.062e-05 6.499e-05 41091897 LRRC74B . GRCh38 chr22 21049086 21049086 + Missense_Mutation SNP C C A rs28504593 7316-872 BS_ZDBEHEPY C C c.551C>A p.Ala184Asp p.A184D ENST00000442047 4/9 99 84 15 36 36 0 LRRC74B,missense_variant,p.Ala184Asp,ENST00000442047,NM_001291006.1;P2RX6P,upstream_gene_variant,,ENST00000439119,;LRRC74B,non_coding_transcript_exon_variant,,ENST00000497328,;LRRC74B,non_coding_transcript_exon_variant,,ENST00000473769,;P2RX6P,upstream_gene_variant,,ENST00000450626,; A ENSG00000187905 ENST00000442047 Transcript missense_variant 551/1179 551/1179 184/392 A/D gCc/gAc rs28504593,COSM4135196 1 1 LRRC74B HGNC HGNC:34301 protein_coding YES CCDS77654.1 ENSP00000394078 Q6ZQY2 UPI000436DF24 NM_001291006.1 deleterious(0) probably_damaging(0.999) 4/9 Low_complexity_(Seg):seg,hmmpanther:PTHR24114:SF30,hmmpanther:PTHR24114,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047 0.1831 0.1694 0.2176 0.1091 0.2356 0.1994 0,1 MODERATE SNV 5 0,1 PASS GCC . . 0.08627 0.03892 0.02147 0.02321 0.009802 0.3067 0.1055 0.05728 0.02635 21049086 AGRN . GRCh38 chr1 1049712 1049712 + Missense_Mutation SNP T T A novel 7316-2144 BS_AGNSAKZG T T c.4661T>A p.Leu1554Gln p.L1554Q ENST00000379370 26/36 116 108 7 38 37 0 AGRN,missense_variant,p.Leu1416Gln,ENST00000620552,NM_001305275.1;AGRN,missense_variant,p.Leu1554Gln,ENST00000379370,NM_198576.3;AGRN,upstream_gene_variant,,ENST00000419249,;AGRN,upstream_gene_variant,,ENST00000461111,;AGRN,downstream_gene_variant,,ENST00000466223,;AGRN,downstream_gene_variant,,ENST00000478677,;AGRN,downstream_gene_variant,,ENST00000479707,;AGRN,downstream_gene_variant,,ENST00000492947,;,regulatory_region_variant,,ENSR00000000128,; A ENSG00000188157 ENST00000379370 Transcript missense_variant 4711/7323 4661/6138 1554/2045 L/Q cTg/cAg 1 1 AGRN HGNC HGNC:329 protein_coding YES CCDS30551.1 ENSP00000368678 O00468 UPI00001D7C8B NM_198576.3 tolerated(0.82) benign(0.007) 26/36 Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_profiles:PS50026,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF288,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF49899,Superfamily_domains:SSF57196 MODERATE 1 SNV 1 1 PASS CTG . . 1049712 TCHH . GRCh38 chr1 152109162 152109162 + Missense_Mutation SNP G G T rs1437786153 7316-2144 BS_AGNSAKZG G G c.4055C>A p.Pro1352Gln p.P1352Q ENST00000614923 3/3 95 84 7 30 29 0 TCHH,missense_variant,p.Pro1352Gln,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Pro1352Gln,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 4150/6995 4055/5832 1352/1943 P/Q cCg/cAg rs1437786153 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.74) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS CGG . . 152109162 IGFN1 . GRCh38 chr1 201211639 201211639 + Missense_Mutation SNP A A G rs1178151383 7316-2144 BS_AGNSAKZG A A c.6746A>G p.Asp2249Gly p.D2249G ENST00000335211 12/24 87 65 10 50 46 2 IGFN1,missense_variant,p.Asp2249Gly,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6876/11810 6746/11127 2249/3708 D/G gAt/gGt rs1178151383,COSM4764345 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(1) benign(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS GAT . . 2.198e-05 0.0001227 0.0001001 1.795e-05 201211639 HLX . GRCh38 chr1 220882257 220882257 + Missense_Mutation SNP A A C rs1297023453 7316-2144 BS_AGNSAKZG A A c.866A>C p.Lys289Thr p.K289T ENST00000366903 3/4 98 86 12 35 35 0 HLX,missense_variant,p.Lys289Thr,ENST00000366903,NM_021958.3;HLX,missense_variant,p.Lys22Thr,ENST00000427693,;HLX-AS1,upstream_gene_variant,,ENST00000552026,;HLX,non_coding_transcript_exon_variant,,ENST00000549319,; C ENSG00000136630 ENST00000366903 Transcript missense_variant 1324/2280 866/1467 289/488 K/T aAa/aCa rs1297023453 1 1 HLX HGNC HGNC:4978 protein_coding YES CCDS1527.1 ENSP00000355870 Q14774 UPI000006D76F NM_021958.3 deleterious(0) benign(0.41) 3/4 Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF7,SMART_domains:SM00389,Superfamily_domains:SSF46689,cd00086 MODERATE 1 SNV 1 PASS AAA . . 220882257 GDF7 . GRCh38 chr2 20667240 20667240 + Translation_Start_Site SNP A A C novel 7316-2144 BS_AGNSAKZG A A c.1A>C p.Met1? p.M1? ENST00000272224 1/2 36 25 5 29 29 0 GDF7,start_lost,p.Met1?,ENST00000272224,NM_182828.2;,regulatory_region_variant,,ENSR00000113855,; C ENSG00000143869 ENST00000272224 Transcript start_lost 577/9749 1/1353 1/450 M/L Atg/Ctg 1 1 GDF7 HGNC HGNC:4222 protein_coding YES CCDS1701.1 ENSP00000272224 Q7Z4P5 UPI0000208B29 NM_182828.2 deleterious(0) benign(0.019) 1/2 hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF160,Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS CAT . . 20667240 AFF3 . GRCh38 chr2 99601549 99601551 + In_Frame_Del DEL GCT GCT - rs756251519 7316-2144 BS_AGNSAKZG GCT GCT c.1330_1332del p.Ser444del p.S444del ENST00000409579 14/25 123 94 10 36 29 0 AFF3,inframe_deletion,p.Ser419del,ENST00000409236,;AFF3,inframe_deletion,p.Ser419del,ENST00000317233,NM_002285.2;AFF3,inframe_deletion,p.Ser444del,ENST00000409579,NM_001025108.1; - ENSG00000144218 ENST00000409579 Transcript inframe_deletion 1563-1565/4342 1330-1332/3756 444/1251 S/- AGC/- rs756251519,COSM4603728 1 -1 AFF3 HGNC HGNC:6473 protein_coding YES CCDS33258.1 ENSP00000386834 P51826 UPI0000545269 NM_001025108.1 14/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10528:SF16,hmmpanther:PTHR10528,Pfam_domain:PF05110 0.1036 0.1226 0,1 MODERATE 1 deletion 5 0,1 1 PASS CCGCTG . . 0.0122 0.01551 0.008578 0.004451 0.01337 0.01307 0.01489 0.008821 0.008352 99601548 TTN . GRCh38 chr2 178652522 178652522 + Missense_Mutation SNP T T A novel 7316-2144 BS_AGNSAKZG T T c.39063A>T p.Glu13021Asp p.E13021D ENST00000589042 202/363 88 76 7 54 53 0 TTN,missense_variant,p.Glu13021Asp,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Glu11514Asp,ENST00000591111,;TTN,missense_variant,p.Glu11514Asp,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Glu10587Asp,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; A ENSG00000155657 ENST00000589042 Transcript missense_variant 39288/109224 39063/107976 13021/35991 E/D gaA/gaT 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 unknown(0) 202/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS CTT . . 178652522 ERFE . GRCh38 chr2 238159150 238159150 + Missense_Mutation SNP A A C novel 7316-2144 BS_AGNSAKZG A A c.143A>C p.Asn48Thr p.N48T ENST00000546354 1/8 34 26 7 26 26 0 ERFE,missense_variant,p.Asn48Thr,ENST00000546354,NM_001291832.1;KLHL30-AS1,upstream_gene_variant,,ENST00000623136,;ERFE,non_coding_transcript_exon_variant,,ENST00000486834,;ERFE,upstream_gene_variant,,ENST00000473274,;ERFE,upstream_gene_variant,,ENST00000479091,;ERFE,upstream_gene_variant,,ENST00000481917,;,regulatory_region_variant,,ENSR00000132791,; C ENSG00000178752 ENST00000546354 Transcript missense_variant 143/1065 143/1065 48/354 N/T aAc/aCc 1 1 ERFE HGNC HGNC:26727 protein_coding YES CCDS77548.1 ENSP00000442304 Q4G0M1 UPI0000F07B77 NM_001291832.1 tolerated(0.36) unknown(0) 1/8 hmmpanther:PTHR24019,hmmpanther:PTHR24019:SF11,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 238159150 STIMATE . GRCh38 chr3 52897431 52897431 + Missense_Mutation SNP T T G novel 7316-2144 BS_AGNSAKZG T T c.20A>C p.Asn7Thr p.N7T ENST00000355083 1/8 100 89 11 60 58 0 STIMATE,missense_variant,p.Asn7Thr,ENST00000355083,NM_198563.2;TMEM110-MUSTN1,missense_variant,p.Asn7Thr,ENST00000504329,NM_001198974.2;STIMATE,missense_variant,p.Asn7Thr,ENST00000467979,;,regulatory_region_variant,,ENSR00000152611,; G ENSG00000213533 ENST00000355083 Transcript missense_variant 166/4769 20/885 7/294 N/T aAc/aCc 1 -1 STIMATE HGNC HGNC:30526 protein_coding YES CCDS2866.1 ENSP00000347195 Q86TL2 UPI000000DB9A NM_198563.2 tolerated_low_confidence(0.25) benign(0.026) 1/8 hmmpanther:PTHR31735,hmmpanther:PTHR31735:SF2,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 52897431 ZNF717 . GRCh38 chr3 75737961 75737961 + Missense_Mutation SNP G G C rs1272586854 7316-2144 BS_AGNSAKZG G G c.1512C>G p.His504Gln p.H504Q ENST00000478296 4/4 121 104 10 52 52 0 ZNF717,missense_variant,p.His504Gln,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; C ENSG00000227124 ENST00000478296 Transcript missense_variant 1789/3875 1512/2595 504/864 H/Q caC/caG rs1272586854 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS TGT . . 75737961 NPNT . GRCh38 chr4 105940179 105940179 + Missense_Mutation SNP A A C novel 7316-2144 BS_AGNSAKZG A A c.700A>C p.Met234Leu p.M234L ENST00000427316 7/13 89 78 9 35 35 0 NPNT,missense_variant,p.Met204Leu,ENST00000379987,NM_001033047.2;NPNT,missense_variant,p.Met204Leu,ENST00000305572,;NPNT,missense_variant,p.Met234Leu,ENST00000427316,NM_001184691.1;NPNT,missense_variant,p.Met221Leu,ENST00000453617,NM_001184690.1;NPNT,missense_variant,p.Met204Leu,ENST00000514622,NM_001184692.1;NPNT,missense_variant,p.Met234Leu,ENST00000506666,NM_001184693.1;NPNT,missense_variant,p.Met251Leu,ENST00000503451,;NPNT,missense_variant,p.Met181Leu,ENST00000514837,;NPNT,downstream_gene_variant,,ENST00000504304,;NPNT,downstream_gene_variant,,ENST00000505821,;NPNT,downstream_gene_variant,,ENST00000513430,;NPNT,downstream_gene_variant,,ENST00000506056,; C ENSG00000168743 ENST00000427316 Transcript missense_variant 912/2481 700/1788 234/595 M/L Atg/Ctg 1 1 NPNT HGNC HGNC:27405 protein_coding YES CCDS54785.1 ENSP00000389252 Q6UXI9 UPI0001AE758D NM_001184691.1 tolerated(0.1) benign(0.018) 7/13 PROSITE_profiles:PS50026,hmmpanther:PTHR24050,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184 MODERATE 1 SNV 2 PASS CAT . . 105940179 MARCH11 . GRCh38 chr5 16179575 16179575 + Translation_Start_Site SNP T T G novel 7316-2144 BS_AGNSAKZG T T c.1A>C p.Met1? p.M1? ENST00000332432 1/4 41 31 9 28 28 0 MARCH11,start_lost,p.Met1?,ENST00000332432,NM_001102562.1;MARCH11,upstream_gene_variant,,ENST00000507111,;AC092335.1,upstream_gene_variant,,ENST00000509037,;MARCH11,intron_variant,,ENST00000505509,; G ENSG00000183654 ENST00000332432 Transcript start_lost 201/1741 1/1209 1/402 M/L Atg/Ctg 1 -1 MARCH11 HGNC HGNC:33609 protein_coding YES CCDS47192.1 ENSP00000333181 A6NNE9 UPI00015B3D4A NM_001102562.1 deleterious_low_confidence(0) benign(0) 1/4 mobidb-lite HIGH SNV 5 PASS ATG . . 16179575 BDP1 . GRCh38 chr5 71510013 71510013 + Missense_Mutation SNP C C A novel 7316-2144 BS_AGNSAKZG C C c.2921C>A p.Thr974Asn p.T974N ENST00000358731 17/39 90 76 5 56 53 0 BDP1,missense_variant,p.Thr974Asn,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,; A ENSG00000145734 ENST00000358731 Transcript missense_variant 3184/11073 2921/7875 974/2624 T/N aCt/aAt 1 1 BDP1 HGNC HGNC:13652 protein_coding YES CCDS43328.1 ENSP00000351575 A6H8Y1 UPI000020CA90 NM_018429.2 tolerated(0.35) benign(0) 17/39 mobidb-lite,hmmpanther:PTHR22929 MODERATE 1 SNV 1 1 PASS ACT . . 71510013 CAST . GRCh38 chr5 96662494 96662494 + Missense_Mutation SNP T T G novel 7316-2144 BS_AGNSAKZG T T c.72T>G p.His24Gln p.H24Q ENST00000395812 1/30 99 86 10 45 44 0 CAST,missense_variant,p.His24Gln,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Gln,ENST00000508830,;CAST,missense_variant,p.His24Gln,ENST00000510756,;CAST,missense_variant,p.His24Gln,ENST00000511097,;CAST,missense_variant,p.His24Gln,ENST00000421689,;CAST,missense_variant,p.His7Gln,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; G ENSG00000153113 ENST00000395812 Transcript missense_variant 258/4506 72/2253 24/750 H/Q caT/caG 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 tolerated_low_confidence(1) benign(0) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS ATG . . 96662494 MDC1 . GRCh38 chr6 30704586 30704586 + Missense_Mutation SNP C C T rs372525319 7316-2144 BS_AGNSAKZG C C c.4597G>A p.Ala1533Thr p.A1533T ENST00000376406 10/15 80 62 10 40 36 1 MDC1,missense_variant,p.Ala1533Thr,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 5245/7576 4597/6270 1533/2089 A/T Gca/Aca rs372525319,COSM5950854,COSM5950853 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 0,1,1 MODERATE SNV 5 0,1,1 PASS GCG . . 6.374e-05 8.032e-05 9.213e-05 4.123e-05 0.0002353 0.0001962 30704586 FAM120B . GRCh38 chr6 170318615 170318615 + Missense_Mutation SNP C C T rs879137606 7316-2144 BS_AGNSAKZG C C c.1294C>T p.Pro432Ser p.P432S ENST00000537664 2/11 71 49 8 53 48 0 FAM120B,missense_variant,p.Pro409Ser,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Pro421Ser,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Pro432Ser,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; T ENSG00000112584 ENST00000537664 Transcript missense_variant 1379/3212 1294/2802 432/933 P/S Ccc/Tcc rs879137606,COSM5763973,COSM5763972 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(0.62) benign(0) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS ACC . . 170318615 METTL27 . GRCh38 chr7 73840043 73840043 + Missense_Mutation SNP C C A novel 7316-2144 BS_AGNSAKZG C C c.466G>T p.Val156Phe p.V156F ENST00000297873 5/6 120 81 30 29 28 0 METTL27,missense_variant,p.Val156Phe,ENST00000297873,NM_152559.2;METTL27,3_prime_UTR_variant,,ENST00000458679,;METTL27,non_coding_transcript_exon_variant,,ENST00000493174,;,regulatory_region_variant,,ENSR00000326741,; A ENSG00000165171 ENST00000297873 Transcript missense_variant 516/941 466/738 156/245 V/F Gtc/Ttc 1 -1 METTL27 HGNC HGNC:19068 protein_coding YES CCDS5561.1 ENSP00000297873 Q8N6F8 UPI000013E466 NM_152559.2 deleterious(0.01) possibly_damaging(0.596) 5/6 cd02440,hmmpanther:PTHR43591:SF6,hmmpanther:PTHR43591,Gene3D:3.40.50.150,Superfamily_domains:SSF53335 MODERATE 1 SNV 1 PASS ACA . . 73840043 UFSP1 . GRCh38 chr7 100889141 100889141 + Missense_Mutation SNP T T G rs778042515 7316-2144 BS_AGNSAKZG T T c.131A>C p.His44Pro p.H44P ENST00000388761 1/1 146 129 10 33 33 0 UFSP1,missense_variant,p.His44Pro,ENST00000388761,NM_001015072.3;ACHE,downstream_gene_variant,,ENST00000241069,NM_000665.4;ACHE,downstream_gene_variant,,ENST00000302913,NM_015831.2;ACHE,downstream_gene_variant,,ENST00000411582,NM_001302621.1;ACHE,downstream_gene_variant,,ENST00000412389,;ACHE,downstream_gene_variant,,ENST00000419336,NM_001282449.1;ACHE,downstream_gene_variant,,ENST00000426415,;ACHE,downstream_gene_variant,,ENST00000428317,NM_001302622.1;ACHE,downstream_gene_variant,,ENST00000430554,;ACHE,downstream_gene_variant,,ENST00000441605,;SRRT,downstream_gene_variant,,ENST00000448764,;SRRT,downstream_gene_variant,,ENST00000611405,NM_015908.5;SRRT,downstream_gene_variant,,ENST00000614484,NM_001128852.1;SRRT,downstream_gene_variant,,ENST00000618262,NM_001128853.1;SRRT,downstream_gene_variant,,ENST00000618411,NM_001128854.1;SRRT,downstream_gene_variant,,ENST00000423692,;ACHE,downstream_gene_variant,,ENST00000440755,;ACHE,downstream_gene_variant,,ENST00000442452,;SRRT,downstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000449389,;ACHE,downstream_gene_variant,,ENST00000454485,;SRRT,downstream_gene_variant,,ENST00000460194,;SRRT,downstream_gene_variant,,ENST00000466432,;SRRT,downstream_gene_variant,,ENST00000469602,;SRRT,downstream_gene_variant,,ENST00000474896,;SRRT,downstream_gene_variant,,ENST00000477529,;SRRT,downstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000487311,;SRRT,downstream_gene_variant,,ENST00000641476,;,regulatory_region_variant,,ENSR00000215868,; G ENSG00000176125 ENST00000388761 Transcript missense_variant 578/996 131/429 44/142 H/P cAc/cCc rs778042515 1 -1 UFSP1 HGNC HGNC:33821 protein_coding YES CCDS34710.1 ENSP00000373413 Q6NVU6 UPI000006E7EF NM_001015072.3 tolerated(0.34) benign(0.012) 1/1 Pfam_domain:PF07910,hmmpanther:PTHR44770 MODERATE SNV PASS GTG . . 2.068e-05 6.716e-05 8.959e-05 9.241e-06 100889141 MUC17 . GRCh38 chr7 101038666 101038666 + Missense_Mutation SNP A A T rs139220229 7316-2144 BS_AGNSAKZG A A c.7250A>T p.His2417Leu p.H2417L ENST00000306151 3/13 109 97 10 51 49 0 MUC17,missense_variant,p.His2417Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.His2417Leu,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 7314/14247 7250/13482 2417/4493 H/L cAt/cTt rs139220229,COSM4161663 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 1.736e-05 0.0001985 9.3e-06 101038666 MUC17 . GRCh38 chr7 101039898 101039898 + Missense_Mutation SNP G G A rs769140119 7316-2144 BS_AGNSAKZG G G c.8482G>A p.Gly2828Ser p.G2828S ENST00000306151 3/13 134 111 10 51 51 0 MUC17,missense_variant,p.Gly2828Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2828Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 8546/14247 8482/13482 2828/4493 G/S Ggc/Agc rs769140119,COSM3703090 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) probably_damaging(0.934) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS TGG . . 0.0002097 0.0001573 0.0002706 0.0001073 0.0003597 0.0001835 0.0006168 0.0003191 101039898 MUC17 . GRCh38 chr7 101041333 101041333 + Missense_Mutation SNP C C A novel 7316-2144 BS_AGNSAKZG C C c.9917C>A p.Ala3306Asp p.A3306D ENST00000306151 3/13 140 117 10 45 45 0 MUC17,missense_variant,p.Ala3306Asp,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala3306Asp,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 9981/14247 9917/13482 3306/4493 A/D gCt/gAt 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0) possibly_damaging(0.859) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCT . . 101041333 REPIN1 . GRCh38 chr7 150368944 150368944 + Splice_Region SNP A A C novel 7316-2144 BS_AGNSAKZG A A c.-42+3A>C ENST00000489432 94 73 13 26 26 0 REPIN1,splice_region_variant,,ENST00000397281,NM_013400.3;REPIN1,splice_region_variant,,ENST00000444957,NM_001099696.2;REPIN1,splice_region_variant,,ENST00000466559,;REPIN1,splice_region_variant,,ENST00000475514,;AC073111.3,splice_region_variant,,ENST00000478789,;REPIN1,splice_region_variant,,ENST00000482680,;REPIN1,splice_region_variant,,ENST00000488943,;REPIN1,splice_region_variant,,ENST00000489432,NM_001099695.1;REPIN1,synonymous_variant,p.Val14=,ENST00000518514,;REPIN1,intron_variant,,ENST00000479668,;REPIN1,intron_variant,,ENST00000519397,;REPIN1,upstream_gene_variant,,ENST00000425389,NM_014374.3;AC005586.1,intron_variant,,ENST00000488310,;REPIN1,upstream_gene_variant,,ENST00000518462,;REPIN1,splice_region_variant,,ENST00000473391,;REPIN1,synonymous_variant,p.Val14=,ENST00000467980,;REPIN1,synonymous_variant,p.Val14=,ENST00000522266,;REPIN1,non_coding_transcript_exon_variant,,ENST00000469309,;REPIN1,non_coding_transcript_exon_variant,,ENST00000495535,;REPIN1,intron_variant,,ENST00000487455,;REPIN1,upstream_gene_variant,,ENST00000486714,;,regulatory_region_variant,,ENSR00000219696,; C ENSG00000214022 ENST00000489432 Transcript splice_region_variant,intron_variant 1 1 REPIN1 HGNC HGNC:17922 protein_coding YES CCDS47745.1 ENSP00000417291 Q9BWE0 UPI0001596898 NM_001099695.1 1/2 LOW 1 SNV 2 PASS TAC . . 150368944 EPPK1 . GRCh38 chr8 143872994 143872994 + Missense_Mutation SNP A A C novel 7316-2144 BS_AGNSAKZG A A c.260T>G p.Leu87Arg p.L87R ENST00000615648 2/2 82 68 5 44 44 0 EPPK1,missense_variant,p.Leu87Arg,ENST00000615648,NM_031308.3;EPPK1,missense_variant,p.Leu62Arg,ENST00000568225,; C ENSG00000261150 ENST00000615648 Transcript missense_variant 332/16002 260/15267 87/5088 L/R cTc/cGc 1 -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107 UPI0002065B93 NM_031308.3 deleterious(0.01) benign(0.132) 2/2 Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2,SMART_domains:SM00250,Superfamily_domains:SSF75399 MODERATE 1 SNV 5 PASS GAG . . 143872994 PRSS3 . GRCh38 chr9 33798487 33798487 + Splice_Region SNP T T C rs201477447 7316-2144 BS_AGNSAKZG T T c.627T>C p.Ala209= p.A209= ENST00000361005 4/5 92 78 10 38 37 0 PRSS3,splice_region_variant,p.Ala166=,ENST00000342836,NM_001197097.2;PRSS3,splice_region_variant,p.Ala209=,ENST00000361005,NM_007343.3;PRSS3,splice_region_variant,p.Ala152=,ENST00000379405,NM_002771.3;PRSS3,splice_region_variant,p.Ala145=,ENST00000429677,NM_001197098.1;PRSS3,splice_region_variant,p.Ala164=,ENST00000457896,;UBE2R2-AS1,non_coding_transcript_exon_variant,,ENST00000454429,;PRSS3,downstream_gene_variant,,ENST00000468152,;PRSS3,downstream_gene_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,; C ENSG00000010438 ENST00000361005 Transcript splice_region_variant,synonymous_variant 627/966 627/915 209/304 A gcT/gcC rs201477447 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 4/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 LOW 1 SNV 1 PASS CTG . . 3.83e-05 9.789e-05 3.708e-05 0.0001936 3.401e-05 33798487 HPS6 . GRCh38 chr10 102065476 102065476 + Translation_Start_Site SNP T T A novel 7316-2144 BS_AGNSAKZG T T c.2T>A p.Met1? p.M1? ENST00000299238 1/1 102 89 6 44 43 0 HPS6,start_lost,p.Met1?,ENST00000299238,NM_024747.5;,regulatory_region_variant,,ENSR00000032686,; A ENSG00000166189 ENST00000299238 Transcript start_lost 87/2649 2/2328 1/775 M/K aTg/aAg 1 1 HPS6 HGNC HGNC:18817 protein_coding YES CCDS7527.1 ENSP00000299238 Q86YV9 UPI000000D7EB NM_024747.5 deleterious(0) probably_damaging(0.994) 1/1 Pfam_domain:PF15702,PIRSF_domain:PIRSF037476,hmmpanther:PTHR14696 HIGH 1 SNV 1 PASS ATG . . 102065476 CFAP46 . GRCh38 chr10 132918385 132918385 + Splice_Region SNP T T C rs201714283 7316-2144 BS_AGNSAKZG T T c.1986+8A>G ENST00000368586 60 42 11 27 26 0 CFAP46,splice_region_variant,,ENST00000368586,NM_001200049.2;CFAP46,upstream_gene_variant,,ENST00000486104,; C ENSG00000171811 ENST00000368586 Transcript splice_region_variant,intron_variant rs201714283,COSM4175642,COSM4175641 1 -1 CFAP46 HGNC HGNC:25247 protein_coding YES CCDS58101.1 ENSP00000357575 Q8IYW2 UPI0001B79116 NM_001200049.2 16/57 0.0042 0.0083 0.0029 0.002 0.005 0.001 0,1,1 LOW 1 SNV 5 0,1,1 PASS ATG . . 0.00383 0.003147 0.002929 0.001088 0.003704 0.00282 0.004639 0.004212 0.004861 132918385 CDHR5 . GRCh38 chr11 618860 618860 + Missense_Mutation SNP T T C rs756760345 7316-2144 BS_AGNSAKZG T T c.1699A>G p.Ser567Gly p.S567G ENST00000358353 14/16 72 44 12 27 22 1 CDHR5,missense_variant,p.Ser567Gly,ENST00000358353,;CDHR5,missense_variant,p.Ser567Gly,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; C ENSG00000099834 ENST00000358353 Transcript missense_variant 2022/3635 1699/2538 567/845 S/G Agt/Ggt rs756760345,COSM4912302 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(0.45) benign(0) 14/16 mobidb-lite,hmmpanther:PTHR45160 0,1 MODERATE SNV 5 0,1 PASS CTG . . 6.615e-05 7.153e-05 0.0003302 0.0002721 3.602e-05 618860 UBQLN3 . GRCh38 chr11 5508062 5508062 + Missense_Mutation SNP A A C novel 7316-2144 BS_AGNSAKZG A A c.1497T>G p.Asp499Glu p.D499E ENST00000311659 2/2 94 84 8 44 44 0 UBQLN3,missense_variant,p.Asp499Glu,ENST00000311659,NM_017481.2,NM_001347096.1;HBE1,upstream_gene_variant,,ENST00000292896,;HBE1,upstream_gene_variant,,ENST00000380237,;HBG2,upstream_gene_variant,,ENST00000380252,;UBQLN3,downstream_gene_variant,,ENST00000445998,;OR51B5,upstream_gene_variant,,ENST00000415970,;OR51B5,upstream_gene_variant,,ENST00000420465,;OR51B5,upstream_gene_variant,,ENST00000420726,;AC104389.4,intron_variant,,ENST00000380259,;OR51B5,upstream_gene_variant,,ENST00000418729,; C ENSG00000175520 ENST00000311659 Transcript missense_variant 1645/2407 1497/1968 499/655 D/E gaT/gaG 1 -1 UBQLN3 HGNC HGNC:12510 protein_coding YES CCDS7758.1 ENSP00000347997 Q9H347 A0A140VJZ3 UPI000006E3A0 NM_017481.2,NM_001347096.1 tolerated(1) benign(0.005) 2/2 hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF4 MODERATE 1 SNV 1 PASS CAT . . 5508062 ISM2 . GRCh38 chr14 77484534 77484534 + Missense_Mutation SNP C C T rs1043661373 7316-2144 BS_AGNSAKZG C C c.416G>A p.Arg139Lys p.R139K ENST00000342219 3/7 86 74 7 40 39 0 ISM2,missense_variant,p.Arg139Lys,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Arg139Lys,ENST00000493585,NM_182509.3;ISM2,intron_variant,,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,; T ENSG00000100593 ENST00000342219 Transcript missense_variant 473/2971 416/1716 139/571 R/K aGg/aAg rs1043661373 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 tolerated(0.72) benign(0.001) 3/7 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CCT . . 0.0006333 0.0007955 0.0002984 0.0004056 0.001289 9.615e-05 0.0008004 0.0002305 0.0005003 77484534 ISM2 . GRCh38 chr14 77484870 77484870 + Missense_Mutation SNP G G C rs995267805 7316-2144 BS_AGNSAKZG G G c.191C>G p.Pro64Arg p.P64R ENST00000342219 2/7 86 71 14 40 40 0 ISM2,missense_variant,p.Pro64Arg,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Pro64Arg,ENST00000493585,NM_182509.3;ISM2,missense_variant,p.Pro64Arg,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,; C ENSG00000100593 ENST00000342219 Transcript missense_variant 248/2971 191/1716 64/571 P/R cCa/cGa rs995267805 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 deleterious_low_confidence(0.04) benign(0.328) 2/7 hmmpanther:PTHR10239,hmmpanther:PTHR10239:SF28,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TGG . . 0.001371 0.002056 0.002179 0.001284 0.003088 9.756e-05 0.0009434 0.001783 0.001752 77484870 AHNAK2 . GRCh38 chr14 104952976 104952976 + Missense_Mutation SNP C C A rs201734490 7316-2144 BS_AGNSAKZG C C c.2475G>T p.Glu825Asp p.E825D ENST00000333244 7/7 101 86 9 33 31 0 AHNAK2,missense_variant,p.Glu825Asp,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; A ENSG00000185567 ENST00000333244 Transcript missense_variant 2595/18254 2475/17388 825/5795 E/D gaG/gaT rs201734490,COSM5772089 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.79) benign(0.003) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0,1 MODERATE 1 SNV 5 0,1 PASS CCT . . 0.0001532 0.0004862 0.0002561 0.0002095 0.0002502 0.0002731 6.473e-05 0.0001959 3.488e-05 104952976 IGHV4-61 . GRCh38 chr14 106639293 106639293 + Missense_Mutation SNP G G T rs1268152085 7316-2144 BS_AGNSAKZG G G c.182C>A p.Pro61His p.P61H ENST00000390630 2/2 61 44 11 23 23 0 IGHV4-61,missense_variant,p.Pro61His,ENST00000390630,;RNA5SP389,downstream_gene_variant,,ENST00000362610,;,regulatory_region_variant,,ENSR00000073899,;,regulatory_region_variant,,ENSR00000276414,;IGHVII-60-1,upstream_gene_variant,,ENST00000519079,;IGHV3-62,downstream_gene_variant,,ENST00000520057,; T ENSG00000211970 ENST00000390630 Transcript missense_variant 283/457 182/356 61/118 P/H cCc/cAc rs1268152085 1 -1 IGHV4-61 HGNC HGNC:5655 IG_V_gene YES ENSP00000375039 A0A0C4DH41 UPI000011B546 deleterious_low_confidence(0.03) benign(0.027) 2/2 MODERATE 1 SNV PASS GGG . . 4.425e-06 7.464e-05 106639293 GOLGA6L2 . GRCh38 chr15 23440936 23440936 + Missense_Mutation SNP T T C rs1266389897 7316-2144 BS_AGNSAKZG T T c.1539A>G p.Ile513Met p.I513M ENST00000567107 8/8 99 66 7 40 38 0 GOLGA6L2,missense_variant,p.Ile513Met,ENST00000567107,NM_001304388.1;GOLGA6L2,missense_variant,p.Ile240Met,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; C ENSG00000174450 ENST00000567107 Transcript missense_variant 1592/3030 1539/2730 513/909 I/M atA/atG rs1266389897 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 tolerated_low_confidence(1) benign(0.014) 8/8 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21 MODERATE 1 SNV 5 PASS ATA . . 23440936 TSPAN3 . GRCh38 chr15 77070900 77070900 + Missense_Mutation SNP T T G novel 7316-2144 BS_AGNSAKZG T T c.55A>C p.Ile19Leu p.I19L ENST00000267970 1/7 48 40 7 36 36 0 TSPAN3,missense_variant,p.Ile19Leu,ENST00000267970,NM_005724.5;TSPAN3,missense_variant,p.Ile19Leu,ENST00000346495,NM_198902.2;TSPAN3,missense_variant,p.Ile19Leu,ENST00000424443,NM_001168412.1;TSPAN3,missense_variant,p.Ile19Leu,ENST00000559494,;TSPAN3,intron_variant,,ENST00000558745,;TSPAN3,intron_variant,,ENST00000561277,;AC090181.2,upstream_gene_variant,,ENST00000602975,;TSPAN3,non_coding_transcript_exon_variant,,ENST00000558394,;TSPAN3,non_coding_transcript_exon_variant,,ENST00000559373,;TSPAN3,non_coding_transcript_exon_variant,,ENST00000560514,;,regulatory_region_variant,,ENSR00000079565,; G ENSG00000140391 ENST00000267970 Transcript missense_variant 329/6467 55/762 19/253 I/L Atc/Ctc 1 -1 TSPAN3 HGNC HGNC:17752 protein_coding YES CCDS10292.1 ENSP00000267970 O60637 UPI000004BA5D NM_005724.5 tolerated(0.07) benign(0.046) 1/7 Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF48,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS ATG . . 77070900 FADS6 . GRCh38 chr17 74893344 74893344 + Splice_Region SNP T T G novel 7316-2144 BS_AGNSAKZG T T c.244+8A>C ENST00000612771 110 93 14 31 31 0 FADS6,splice_region_variant,,ENST00000612771,NM_178128.5;FADS6,splice_region_variant,,ENST00000614223,;FADS6,splice_region_variant,,ENST00000621859,;,regulatory_region_variant,,ENSR00000098280,; G ENSG00000172782 ENST00000612771 Transcript splice_region_variant,intron_variant 1 -1 FADS6 HGNC HGNC:30459 protein_coding YES CCDS54163.2 ENSP00000481684 A0A087WYB9 UPI0001639CD9 NM_178128.5 1/5 LOW 1 SNV 1 PASS GTT . . 74893344 MFSD12 . GRCh38 chr19 3557402 3557402 + Translation_Start_Site SNP A A C novel 7316-2144 BS_AGNSAKZG A A c.2T>G p.Met1? p.M1? ENST00000355415 1/10 78 67 8 47 47 0 MFSD12,start_lost,p.Met1?,ENST00000355415,NM_174983.4;MFSD12,start_lost,p.Met1?,ENST00000389395,NM_001287529.1;MFSD12,intron_variant,,ENST00000592652,;AC005786.2,upstream_gene_variant,,ENST00000592368,;AC005786.3,intron_variant,,ENST00000589360,;MFSD12,intron_variant,,ENST00000591878,;MFSD12,start_lost,p.Met1?,ENST00000588918,;MFSD12,intron_variant,,ENST00000585814,;MFSD12,intron_variant,,ENST00000588626,;,regulatory_region_variant,,ENSR00000106070,; C ENSG00000161091 ENST00000355415 Transcript start_lost 172/2124 2/1443 1/480 M/R aTg/aGg 1 -1 MFSD12 HGNC HGNC:28299 protein_coding YES CCDS42465.1 ENSP00000347583 Q6NUT3 UPI0000046FA8 NM_174983.4 deleterious_low_confidence(0) benign(0) 1/10 HIGH 1 SNV 1 PASS CAT . . 3557402 PLIN4 . GRCh38 chr19 4512060 4512060 + Missense_Mutation SNP T T A novel 7316-2144 BS_AGNSAKZG T T c.1858A>T p.Ile620Phe p.I620F ENST00000301286 3/6 99 75 9 46 45 0 PLIN4,missense_variant,p.Ile635Phe,ENST00000633942,;PLIN4,missense_variant,p.Ile620Phe,ENST00000301286,NM_001080400.1; A ENSG00000167676 ENST00000301286 Transcript missense_variant 1858/6353 1858/4074 620/1357 I/F Atc/Ttc 1 -1 PLIN4 HGNC HGNC:29393 protein_coding YES CCDS45927.1 ENSP00000301286 Q96Q06 UPI00001D822A NM_001080400.1 deleterious(0) benign(0.025) 3/6 Gene3D:1.20.120.20,hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF31 MODERATE 1 SNV 5 PASS ATG . . 4512060 PLIN4 . GRCh38 chr19 4512933 4512933 + Missense_Mutation SNP C C A 7316-2144 BS_AGNSAKZG C C c.985G>T p.Gly329Cys p.G329C ENST00000301286 3/6 69 48 10 32 31 0 PLIN4,missense_variant,p.Gly344Cys,ENST00000633942,;PLIN4,missense_variant,p.Gly329Cys,ENST00000301286,NM_001080400.1; A ENSG00000167676 ENST00000301286 Transcript missense_variant 985/6353 985/4074 329/1357 G/C Ggt/Tgt COSM1612392,COSM1612391 1 -1 PLIN4 HGNC HGNC:29393 protein_coding YES CCDS45927.1 ENSP00000301286 Q96Q06 UPI00001D822A NM_001080400.1 deleterious(0) probably_damaging(0.987) 3/6 Gene3D:1.20.5.1230,hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF31 1,1 MODERATE 1 SNV 5 1,1 PASS CCA . . 4512933 TUBB4A . GRCh38 chr19 6495907 6495907 + Missense_Mutation SNP C C T novel 7316-2144 BS_AGNSAKZG C C c.592G>A p.Glu198Lys p.E198K ENST00000264071 4/4 108 59 46 47 45 0 TUBB4A,missense_variant,p.Glu198Lys,ENST00000264071,NM_001289129.1,NM_006087.3;TUBB4A,missense_variant,p.Glu128Lys,ENST00000594075,;TUBB4A,missense_variant,p.Glu94Lys,ENST00000594276,;TUBB4A,missense_variant,p.Glu112Lys,ENST00000600216,;TUBB4A,downstream_gene_variant,,ENST00000596291,NM_001289131.1,NM_001289130.1;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000597686,NM_001289127.1;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000598635,NM_001289123.1;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000601640,;AC010503.1,downstream_gene_variant,,ENST00000596027,;AC010503.2,downstream_gene_variant,,ENST00000599292,;TUBB4A,3_prime_UTR_variant,,ENST00000595324,;TUBB4A,downstream_gene_variant,,ENST00000594290,; T ENSG00000104833 ENST00000264071 Transcript missense_variant 964/2552 592/1335 198/444 E/K Gag/Aag 1 -1 TUBB4A HGNC HGNC:20774 protein_coding YES CCDS12168.1 ENSP00000264071 P04350 UPI000005FC27 NM_001289129.1,NM_006087.3 deleterious_low_confidence(0.03) benign(0.039) 4/4 Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF256,SMART_domains:SM00864,Superfamily_domains:SSF52490,cd02187 MODERATE 1 SNV 1 1 PASS TCA . . 6495907 TIMM44 . GRCh38 chr19 7933572 7933572 + Splice_Site SNP T T G rs748989419 7316-2144 BS_AGNSAKZG T T c.684-2A>C p.X228_splice ENST00000270538 81 71 9 29 29 0 TIMM44,splice_acceptor_variant,,ENST00000270538,NM_006351.3;TIMM44,splice_acceptor_variant,,ENST00000597926,;TIMM44,upstream_gene_variant,,ENST00000595565,;TIMM44,upstream_gene_variant,,ENST00000598968,;TIMM44,splice_acceptor_variant,,ENST00000595831,;TIMM44,splice_acceptor_variant,,ENST00000595876,;TIMM44,splice_acceptor_variant,,ENST00000598675,;TIMM44,upstream_gene_variant,,ENST00000598481,;TIMM44,upstream_gene_variant,,ENST00000599650,;TIMM44,upstream_gene_variant,,ENST00000599939,;TIMM44,downstream_gene_variant,,ENST00000600000,;TIMM44,downstream_gene_variant,,ENST00000600748,; G ENSG00000104980 ENST00000270538 Transcript splice_acceptor_variant rs748989419,COSM4288930 1 -1 TIMM44 HGNC HGNC:17316 protein_coding YES CCDS12192.1 ENSP00000270538 O43615 UPI000012D5E2 NM_006351.3 6/12 0,1 HIGH 1 SNV 1 0,1 PASS CTG . . 0.0002002 0.0003974 2.98e-05 0.000102 0.0003436 0.000549 7933572 KRI1 . GRCh38 chr19 10565916 10565916 + Missense_Mutation SNP T T G novel 7316-2144 BS_AGNSAKZG T T c.102A>C p.Glu34Asp p.E34D ENST00000312962 1/19 138 114 19 43 38 0 KRI1,missense_variant,p.Glu34Asp,ENST00000312962,NM_023008.3;KRI1,missense_variant,p.Glu25Asp,ENST00000539027,;KRI1,missense_variant,p.Glu32Asp,ENST00000543682,;KRI1,5_prime_UTR_variant,,ENST00000432197,;CDKN2D,downstream_gene_variant,,ENST00000335766,;CDKN2D,downstream_gene_variant,,ENST00000393599,NM_001800.3,NM_079421.2;KRI1,non_coding_transcript_exon_variant,,ENST00000537964,;KRI1,missense_variant,p.Glu31Asp,ENST00000544397,;KRI1,non_coding_transcript_exon_variant,,ENST00000536689,;KRI1,non_coding_transcript_exon_variant,,ENST00000612875,;KRI1,non_coding_transcript_exon_variant,,ENST00000478863,;KRI1,non_coding_transcript_exon_variant,,ENST00000546063,;,regulatory_region_variant,,ENSR00000287406,; G ENSG00000129347 ENST00000312962 Transcript missense_variant 122/3023 102/2130 34/709 E/D gaA/gaC 1 -1 KRI1 HGNC HGNC:25769 protein_coding YES CCDS12242.1 ENSP00000320917 Q8N9T8 UPI0000246DCC NM_023008.3 deleterious(0.03) probably_damaging(0.967) 1/19 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14490 MODERATE 1 SNV 1 PASS GTT . . 10565916 DNM2 . GRCh38 chr19 10823864 10823864 + Missense_Mutation SNP T T G novel 7316-2144 BS_AGNSAKZG T T c.1858T>G p.Phe620Val p.F620V ENST00000389253 17/21 88 72 13 37 37 0 DNM2,missense_variant,p.Phe616Val,ENST00000359692,NM_004945.3;DNM2,missense_variant,p.Phe620Val,ENST00000389253,NM_001005361.2;DNM2,missense_variant,p.Phe620Val,ENST00000355667,NM_001005360.2;DNM2,missense_variant,p.Phe616Val,ENST00000408974,NM_001005362.2;DNM2,missense_variant,p.Phe620Val,ENST00000585892,NM_001190716.1;DNM2,non_coding_transcript_exon_variant,,ENST00000590806,;DNM2,non_coding_transcript_exon_variant,,ENST00000590787,;DNM2,non_coding_transcript_exon_variant,,ENST00000593203,; G ENSG00000079805 ENST00000389253 Transcript missense_variant 1970/3581 1858/2613 620/870 F/V Ttc/Gtc 1 1 DNM2 HGNC HGNC:2974 protein_coding YES CCDS45969.1 ENSP00000373905 P50570 UPI000049A626 NM_001005361.2 deleterious(0) possibly_damaging(0.878) 17/21 cd01256,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729,PROSITE_profiles:PS50003,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF23 MODERATE 1 SNV 5 1 PASS GTT . . 10823864 CACNA1A . GRCh38 chr19 13207971 13207971 + Missense_Mutation SNP T T G rs1183687892 7316-2144 BS_AGNSAKZG T T c.6881A>C p.Gln2294Pro p.Q2294P ENST00000638029 48/48 49 33 9 30 26 0 CACNA1A,missense_variant,p.Gln2289Pro,ENST00000637769,;CACNA1A,missense_variant,p.Gln2288Pro,ENST00000360228,NM_001127222.1;CACNA1A,missense_variant,p.Gln2294Pro,ENST00000614285,;CACNA1A,missense_variant,p.Gln2242Pro,ENST00000637736,;CACNA1A,missense_variant,p.Gln2294Pro,ENST00000638029,NM_023035.2;CACNA1A,missense_variant,p.Gln2290Pro,ENST00000573710,;CACNA1A,missense_variant,p.Gln2289Pro,ENST00000635727,;CACNA1A,missense_variant,p.Gln2277Pro,ENST00000636012,;CACNA1A,missense_variant,p.Gln763Pro,ENST00000587525,;CACNA1A,missense_variant,p.Gln663Pro,ENST00000585802,;CACNA1A,synonymous_variant,p.Pro2286=,ENST00000636389,;CACNA1A,3_prime_UTR_variant,,ENST00000638009,NM_001127221.1;CACNA1A,3_prime_UTR_variant,,ENST00000635895,;CACNA1A,3_prime_UTR_variant,,ENST00000637432,NM_000068.3;CACNA1A,3_prime_UTR_variant,,ENST00000637276,;CACNA1A,downstream_gene_variant,,ENST00000636473,;CACNA1A,downstream_gene_variant,,ENST00000636549,NM_001174080.1;CACNA1A,downstream_gene_variant,,ENST00000637819,;CACNA1A,downstream_gene_variant,,ENST00000637927,;CACNA1A,downstream_gene_variant,,ENST00000636610,;CACNA1A,downstream_gene_variant,,ENST00000636768,;,regulatory_region_variant,,ENSR00000107393,; G ENSG00000141837 ENST00000638029 Transcript missense_variant 7117/7814 6881/7539 2294/2512 Q/P cAg/cCg rs1183687892,COSM6361437,COSM6361436,COSM6361435 1 -1 CACNA1A HGNC HGNC:1388 protein_coding YES CCDS82300.1 ENSP00000489829 A0A087WW63 UPI000152B4F1 NM_023035.2 tolerated(0.13) benign(0.009) 48/48 mobidb-lite 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 1 PASS CTG . . 13207971 SAMD1 . GRCh38 chr19 14090369 14090369 + Missense_Mutation SNP T T G novel 7316-2144 BS_AGNSAKZG T T c.52A>C p.Thr18Pro p.T18P ENST00000533683 1/5 43 29 9 25 25 0 SAMD1,missense_variant,p.Thr18Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 340/2164 52/1299 18/432 T/P Acg/Ccg 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.063) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090369 ZNF430 . GRCh38 chr19 21057299 21057299 + Missense_Mutation SNP C C A 7316-2144 BS_AGNSAKZG C C c.991C>A p.His331Asn p.H331N ENST00000261560 5/5 88 71 12 41 40 0 ZNF430,missense_variant,p.His331Asn,ENST00000261560,NM_001172671.1,NM_025189.3;ZNF430,upstream_gene_variant,,ENST00000597922,;ZNF430,downstream_gene_variant,,ENST00000599548,; A ENSG00000118620 ENST00000261560 Transcript missense_variant 1172/3923 991/1713 331/570 H/N Cac/Aac COSM6279557 1 1 ZNF430 HGNC HGNC:20808 protein_coding YES CCDS32978.1 ENSP00000261560 Q9H8G1 UPI000020389E NM_001172671.1,NM_025189.3 tolerated(0.58) benign(0.003) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF131,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS ACA . . 21057299 ZNF708 . GRCh38 chr19 21294034 21294034 + Missense_Mutation SNP C C A 7316-2144 BS_AGNSAKZG C C c.932G>T p.Gly311Val p.G311V ENST00000356929 4/4 73 58 7 51 51 0 ZNF708,missense_variant,p.Gly311Val,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; A ENSG00000182141 ENST00000356929 Transcript missense_variant 1130/4004 932/1692 311/563 G/V gGa/gTa COSM394680 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 deleterious(0) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS TCC . . 21294034 ZNF43 . GRCh38 chr19 21807744 21807744 + Nonsense_Mutation SNP T T A 7316-2144 BS_AGNSAKZG T T c.2320A>T p.Lys774Ter p.K774* ENST00000357491 4/4 97 82 10 41 41 0 ZNF43,stop_gained,p.Lys759Ter,ENST00000594012,NM_001256649.1;ZNF43,stop_gained,p.Lys774Ter,ENST00000357491,NM_001256653.1;ZNF43,stop_gained,p.Lys759Ter,ENST00000595461,NM_001256648.1;ZNF43,stop_gained,p.Lys759Ter,ENST00000598381,NM_001256650.1;ZNF43,stop_gained,p.Lys765Ter,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; A ENSG00000198521 ENST00000357491 Transcript stop_gained 2454/5249 2320/2457 774/818 K/* Aaa/Taa COSM1293744 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 HIGH 1 SNV 2 1 PASS TTA . . 21807744 ZNF257 . GRCh38 chr19 22088853 22088853 + Missense_Mutation SNP A A T 7316-2144 BS_AGNSAKZG A A c.1103A>T p.Lys368Ile p.K368I ENST00000594947 4/4 66 50 5 48 46 0 ZNF257,missense_variant,p.Lys368Ile,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; T ENSG00000197134 ENST00000594947 Transcript missense_variant 1247/3874 1103/1692 368/563 K/I aAa/aTa COSM6991452 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 deleterious(0.01) benign(0.024) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:2.30.30.380,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS AAA . . 22088853 GPI . GRCh38 chr19 34366816 34366816 + Missense_Mutation SNP C C T rs983725326 7316-2144 BS_AGNSAKZG C C c.364C>T p.Arg122Trp p.R122W ENST00000588991 4/18 78 35 41 28 28 0 GPI,missense_variant,p.Arg122Trp,ENST00000415930,NM_001289789.1,NM_001329910.1;GPI,missense_variant,p.Arg83Trp,ENST00000644934,NM_001289790.1,NM_000175.3,NM_001329909.1;GPI,missense_variant,p.Arg83Trp,ENST00000356487,;GPI,missense_variant,p.Arg122Trp,ENST00000588991,NM_001184722.1;GPI,missense_variant,p.Arg46Trp,ENST00000586425,;GPI,missense_variant,p.Arg122Trp,ENST00000587384,;GPI,missense_variant,p.Arg122Trp,ENST00000592277,;GPI,missense_variant,p.Arg122Trp,ENST00000642240,;GPI,missense_variant,p.Arg83Trp,ENST00000589399,;GPI,missense_variant,p.Arg83Trp,ENST00000589640,;GPI,missense_variant,p.Arg83Trp,ENST00000591204,;GPI,missense_variant,p.Arg83Trp,ENST00000590375,;GPI,downstream_gene_variant,,ENST00000587521,;GPI,non_coding_transcript_exon_variant,,ENST00000643067,;GPI,missense_variant,p.Arg83Trp,ENST00000647446,;GPI,3_prime_UTR_variant,,ENST00000592144,;GPI,non_coding_transcript_exon_variant,,ENST00000589504,;GPI,downstream_gene_variant,,ENST00000646312,; T ENSG00000105220 ENST00000588991 Transcript missense_variant 481/2036 364/1710 122/569 R/W Cgg/Tgg rs983725326,CM940877,COSM5828844,COSM1392731 1 1 GPI HGNC HGNC:4458 protein_coding YES CCDS54246.1 ENSP00000465858 A0A0A0MTS2 UPI00017A6DE4 NM_001184722.1 deleterious_low_confidence(0.01) possibly_damaging(0.806) 4/18 PROSITE_profiles:PS51463,HAMAP:MF_00473,hmmpanther:PTHR11469,hmmpanther:PTHR11469:SF3,Gene3D:3.40.50.10490,Pfam_domain:PF00342,Superfamily_domains:SSF53697 0,0,1,1 MODERATE 1 SNV 2 0,1,1,1 1 PASS GCG . . 4.061e-06 8.953e-06 34366816 ZNF850 . GRCh38 chr19 36747868 36747868 + Missense_Mutation SNP C C A novel 7316-2144 BS_AGNSAKZG C C c.3172G>T p.Val1058Phe p.V1058F ENST00000591344 5/5 66 55 9 53 53 0 ZNF850,missense_variant,p.Val1058Phe,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Val1026Phe,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; A ENSG00000267041 ENST00000591344 Transcript missense_variant 3331/7714 3172/3273 1058/1090 V/F Gtt/Ttt 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 deleterious(0.03) benign(0.281) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ACA . . 36747868 ZNF808 . GRCh38 chr19 52555297 52555297 + Missense_Mutation SNP C C A novel 7316-2144 BS_AGNSAKZG C C c.2381C>A p.Thr794Lys p.T794K ENST00000359798 5/5 87 76 10 48 47 0 ZNF808,missense_variant,p.Thr794Lys,ENST00000359798,NM_001321424.1,NM_001039886.3,NM_001321425.1;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF701,upstream_gene_variant,,ENST00000611267,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.Thr725Lys,ENST00000487863,; A ENSG00000198482 ENST00000359798 Transcript missense_variant 2561/3600 2381/2712 794/903 T/K aCg/aAg 1 1 ZNF808 HGNC HGNC:33230 protein_coding YES CCDS46167.1 ENSP00000352846 Q8N4W9 UPI000041AA80 NM_001321424.1,NM_001039886.3,NM_001321425.1 tolerated(0.31) benign(0.021) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR43964,hmmpanther:PTHR43964:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS ACG . . 52555297 ZNF600 . GRCh38 chr19 52766687 52766687 + Missense_Mutation SNP T T G rs745505354 7316-2144 BS_AGNSAKZG T T c.1069A>C p.Thr357Pro p.T357P ENST00000338230 3/3 79 71 6 39 38 0 ZNF600,missense_variant,p.Thr357Pro,ENST00000338230,NM_198457.3,NM_001321867.1; G ENSG00000189190 ENST00000338230 Transcript missense_variant 1337/3829 1069/2169 357/722 T/P Act/Cct rs745505354,COSM1271607 1 -1 ZNF600 HGNC HGNC:30951 protein_coding YES CCDS12856.1 ENSP00000344791 Q6ZNG1 UPI0000366E5E NM_198457.3,NM_001321867.1 tolerated(1) benign(0.015) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,hmmpanther:PTHR24376:SF74,Gene3D:2.40.155.10,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GTT . . 4.063e-06 8.959e-06 52766687 ZNF28 . GRCh38 chr19 52800534 52800534 + Missense_Mutation SNP C C A 7316-2144 BS_AGNSAKZG C C c.1311G>T p.Lys437Asn p.K437N ENST00000457749 4/4 79 65 7 48 47 0 ZNF28,missense_variant,p.Lys384Asn,ENST00000438150,;ZNF28,missense_variant,p.Lys437Asn,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Lys384Asn,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000596559,; A ENSG00000198538 ENST00000457749 Transcript missense_variant 1431/4556 1311/2157 437/718 K/N aaG/aaT COSM6829052,COSM6829051,COSM6829050 1 -1 ZNF28 HGNC HGNC:13073 protein_coding YES CCDS33093.2 ENSP00000397693 P17035 UPI00001D8190 NM_006969.3 deleterious(0.02) probably_damaging(0.996) 4/4 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF301,hmmpanther:PTHR24377:SF301,Superfamily_domains:SSF57667 1,1,1 MODERATE 1 SNV 1 1,1,1 PASS GCT . . 52800534 ZNF845 . GRCh38 chr19 53352240 53352240 + Missense_Mutation SNP T T A 7316-2144 BS_AGNSAKZG T T c.1565T>A p.Leu522His p.L522H ENST00000458035 4/4 89 73 10 46 44 0 ZNF845,missense_variant,p.Leu522His,ENST00000458035,NM_138374.2;ZNF845,missense_variant,p.Leu522His,ENST00000595091,NM_001321524.1,NM_001321523.1,NM_001321522.1; A ENSG00000213799 ENST00000458035 Transcript missense_variant 1685/6351 1565/2913 522/970 L/H cTt/cAt COSM1190149 1 1 ZNF845 HGNC HGNC:25112 protein_coding YES CCDS46170.1 ENSP00000388311 Q96IR2 UPI0001662BAC NM_138374.2 deleterious(0) possibly_damaging(0.852) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,hmmpanther:PTHR24376:SF74,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS CTT . . 53352240 ZNF765 . GRCh38 chr19 53408395 53408395 + Missense_Mutation SNP C C A novel 7316-2144 BS_AGNSAKZG C C c.840C>A p.Phe280Leu p.F280L ENST00000396408 4/4 91 71 10 41 41 0 ZNF765,missense_variant,p.Phe280Leu,ENST00000396408,NM_001040185.1,NM_001350495.1;ZNF765,intron_variant,,ENST00000594030,;ZNF765,downstream_gene_variant,,ENST00000505866,;ZNF765,intron_variant,,ENST00000504146,;ZNF765,intron_variant,,ENST00000504235,;ZNF765,intron_variant,,ENST00000507045,;RPL39P36,upstream_gene_variant,,ENST00000490784,; A ENSG00000196417 ENST00000396408 Transcript missense_variant 957/4569 840/1572 280/523 F/L ttC/ttA 1 1 ZNF765 HGNC HGNC:25092 protein_coding YES CCDS46171.1 ENSP00000379689 Q7L2R6 UPI000040C508 NM_001040185.1,NM_001350495.1 deleterious(0.03) probably_damaging(1) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TCA . . 53408395 ZNF761 . GRCh38 chr19 53455883 53455883 + Missense_Mutation SNP G G T rs779549000 7316-2144 BS_AGNSAKZG G G c.1376G>T p.Arg459Leu p.R459L ENST00000432094 5/5 83 71 10 39 38 0 ZNF761,missense_variant,p.Arg459Leu,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.Arg459Leu,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; T ENSG00000160336 ENST00000432094 Transcript missense_variant 1683/4061 1376/2241 459/746 R/L cGt/cTt rs779549000,COSM1293825 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 tolerated(0.42) benign(0.005) 5/5 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,hmmpanther:PTHR24377:SF330,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 8.148e-06 1.795e-05 53455883 LILRB4 . GRCh38 chr19 54664454 54664454 + Missense_Mutation SNP C C G rs768951096 7316-2144 BS_AGNSAKZG C C c.624C>G p.His208Gln p.H208Q ENST00000391736 6/14 90 81 8 28 26 1 LILRB4,missense_variant,p.His208Gln,ENST00000391736,NM_001278426.3;LILRB4,missense_variant,p.His208Gln,ENST00000430952,NM_001278427.3;LILRB4,missense_variant,p.His208Gln,ENST00000391733,NM_001278429.3,NM_001278428.3;LILRB4,missense_variant,p.His208Gln,ENST00000391734,;LILRB4,missense_variant,p.His208Gln,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000270452,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,3_prime_UTR_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000470943,; G ENSG00000186818 ENST00000391736 Transcript missense_variant 939/4002 624/1347 208/448 H/Q caC/caG rs768951096,COSM5507343 1 1 LILRB4 HGNC HGNC:6608 protein_coding YES CCDS12902.1 ENSP00000375616 Q8NHJ6 UPI0000034C02 NM_001278426.3 tolerated(0.47) benign(0.007) 6/14 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF30,Superfamily_domains:SSF48726 0,1 MODERATE 1 SNV 5 0,1 PASS ACC . . 54664454 ZNF343 . GRCh38 chr20 2483386 2483386 + Missense_Mutation SNP T T G novel 7316-2144 BS_AGNSAKZG T T c.1698A>C p.Glu566Asp p.E566D ENST00000612935 8/8 91 64 12 49 46 0 ZNF343,missense_variant,p.Glu566Asp,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Glu525Asp,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Glu435Asp,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; G ENSG00000088876 ENST00000612935 Transcript missense_variant 2112/3675 1698/1923 566/640 E/D gaA/gaC 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 tolerated(0.11) benign(0.191) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS ATT . . 2483386 CCM2L . GRCh38 chr20 32019033 32019033 + Missense_Mutation SNP A A C novel 7316-2144 BS_AGNSAKZG A A c.557A>C p.Lys186Thr p.K186T ENST00000262659 5/9 80 66 10 43 42 0 CCM2L,missense_variant,p.Lys186Thr,ENST00000262659,NM_080625.3;CCM2L,upstream_gene_variant,,ENST00000452892,;,regulatory_region_variant,,ENSR00000136079,; C ENSG00000101331 ENST00000262659 Transcript missense_variant 562/2523 557/1302 186/433 K/T aAg/aCg 1 1 CCM2L HGNC HGNC:16153 protein_coding YES CCDS13195.1 ENSP00000262659 Q9NUG4 UPI0000070921 NM_080625.3 deleterious_low_confidence(0.05) benign(0.031) 5/9 Gene3D:2.30.29.30,hmmpanther:PTHR21642,hmmpanther:PTHR21642:SF2,cd13166,mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 32019033 CSF2RA . GRCh38 chrX 1303256 1303256 + Splice_Region SNP C C G rs111716550 7316-2144 BS_AGNSAKZG C C c.947-5C>G ENST00000417535 64 50 12 25 25 0 CSF2RA,splice_region_variant,,ENST00000417535,NM_001161530.1;CSF2RA,intron_variant,,ENST00000355432,NM_172246.2;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2;CSF2RA,intron_variant,,ENST00000381500,NM_172247.2;CSF2RA,intron_variant,,ENST00000381509,NM_001161531.1;CSF2RA,intron_variant,,ENST00000381524,;CSF2RA,intron_variant,,ENST00000381529,NM_172245.2,NM_006140.4;CSF2RA,intron_variant,,ENST00000432318,NM_001161529.1;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;RNA5SP498,upstream_gene_variant,,ENST00000411342,;CSF2RA,splice_region_variant,,ENST00000498153,;CSF2RA,intron_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000493312,;CSF2RA,intron_variant,,ENST00000486791,; G ENSG00000198223 ENST00000417535 Transcript splice_region_variant,intron_variant rs111716550,COSM5956785 1 1 CSF2RA HGNC HGNC:2435 protein_coding YES CCDS55359.1 ENSP00000394227 P15509 UPI000159C3E4 NM_001161530.1 10/13 0,1 LOW 1 SNV 5 0,1 1 PASS ACA . . 5.162e-05 0.000664 1303256 AC115618.1 . GRCh38 chrX 48568183 48568183 + Splice_Region DEL A A - rs200467629 7316-2144 BS_AGNSAKZG A A n.383-3del ENST00000376775 31 19 7 22 18 0 AC115618.1,splice_region_variant,,ENST00000376775,; - ENSG00000204620 ENST00000376775 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs200467629 1 -1 AC115618.1 Clone_based_ensembl_gene antisense YES 1/1 LOW 1 deletion 3 PASS CTAA . . 48568182 MAGEE1 . GRCh38 chrX 76428913 76428913 + Missense_Mutation SNP T T C rs1285203573 7316-2144 BS_AGNSAKZG T T c.983T>C p.Leu328Pro p.L328P ENST00000361470 1/1 42 22 6 27 26 1 MAGEE1,missense_variant,p.Leu328Pro,ENST00000361470,NM_020932.2;,regulatory_region_variant,,ENSR00000247301,; C ENSG00000198934 ENST00000361470 Transcript missense_variant 1190/3630 983/2874 328/957 L/P cTg/cCg rs1285203573,COSM4656065,COSM4656064 1 1 MAGEE1 HGNC HGNC:24934 protein_coding YES CCDS14433.1 ENSP00000354912 Q9HCI5 UPI000006F138 NM_020932.2 tolerated_low_confidence(0.16) benign(0) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF9,mobidb-lite 0,1,1 MODERATE 1 SNV 0,1,1 PASS CTG . . 76428913 TEX13C . GRCh38 chrX 125321620 125321620 + Missense_Mutation SNP C C A rs868293680 7316-2144 BS_AGNSAKZG C C c.1501C>A p.His501Asn p.H501N ENST00000632600 1/1 39 31 6 18 18 0 TEX13C,missense_variant,p.His501Asn,ENST00000632600,NM_001195272.1; A ENSG00000282815 ENST00000632600 Transcript missense_variant 1501/5095 1501/2982 501/993 H/N Cac/Aac rs868293680,COSM6309100 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.52) benign(0) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28 0,1 MODERATE 1 SNV 0,1 PASS CCA . . 2.931e-05 3.567e-05 9.125e-05 125321620 TEX13C . GRCh38 chrX 125321722 125321722 + Missense_Mutation SNP A A C novel 7316-2144 BS_AGNSAKZG A A c.1603A>C p.Lys535Gln p.K535Q ENST00000632600 1/1 46 31 5 23 22 0 TEX13C,missense_variant,p.Lys535Gln,ENST00000632600,NM_001195272.1; C ENSG00000282815 ENST00000632600 Transcript missense_variant 1603/5095 1603/2982 535/993 K/Q Aag/Cag 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.49) unknown(0) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite MODERATE 1 SNV PASS GAA . . 125321722 ZFP92 . GRCh38 chrX 153420882 153420882 + Missense_Mutation SNP A A G rs921941244 7316-2144 BS_AGNSAKZG A A c.505A>G p.Lys169Glu p.K169E ENST00000338647 4/4 53 45 6 18 18 0 ZFP92,missense_variant,p.Lys169Glu,ENST00000338647,NM_001136273.1; G ENSG00000189420 ENST00000338647 Transcript missense_variant 506/6105 505/1251 169/416 K/E Aag/Gag rs921941244 1 1 ZFP92 HGNC HGNC:12865 protein_coding YES CCDS59177.1 ENSP00000462054 A6NM28 UPI000052B478 NM_001136273.1 deleterious(0.02) benign(0.345) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF634,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS CAA . . 153420882 PRAMEF5 . GRCh38 chr1 13263107 13263107 + Missense_Mutation SNP G G C novel 7316-47 BS_DSPH005J G G c.1427G>C p.Cys476Ser p.C476S ENST00000622421 4/4 44 17 26 21 19 0 PRAMEF5,missense_variant,p.Cys476Ser,ENST00000622421,NM_001013407.2; C ENSG00000270601 ENST00000622421 Transcript missense_variant 1513/1720 1427/1431 476/476 C/S tGt/tCt 1 1 PRAMEF5 HGNC HGNC:27995 protein_coding YES CCDS72708.1 ENSP00000480122 Q5TYX0 UPI0004423C15 NM_001013407.2 deleterious(0) probably_damaging(0.967) 4/4 hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19 MODERATE 1 SNV 1 PASS TGT . . 13263107 LMOD1 . GRCh38 chr1 201900488 201900488 + Missense_Mutation SNP A A C novel 7316-47 BS_DSPH005J A A c.525T>G p.Asp175Glu p.D175E ENST00000367288 2/3 126 108 10 47 46 0 LMOD1,missense_variant,p.Asp175Glu,ENST00000367288,NM_012134.2;LMOD1,missense_variant,p.Asp147Glu,ENST00000616739,;AL513217.1,downstream_gene_variant,,ENST00000414927,;AL513217.1,downstream_gene_variant,,ENST00000458139,; C ENSG00000163431 ENST00000367288 Transcript missense_variant 772/3970 525/1803 175/600 D/E gaT/gaG 1 -1 LMOD1 HGNC HGNC:6647 protein_coding YES CCDS53457.1 ENSP00000356257 P29536 UPI00003665F4 NM_012134.2 tolerated(0.27) benign(0) 2/3 hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF5,mobidb-lite MODERATE 1 SNV 1 1 PASS CAT . . 201900488 PCDHB8 . GRCh38 chr5 141180109 141180109 + Missense_Mutation SNP T T A novel 7316-47 BS_DSPH005J T T c.2075T>A p.Val692Glu p.V692E ENST00000239444 1/1 96 57 34 27 24 0 PCDHB8,missense_variant,p.Val692Glu,ENST00000239444,NM_019120.4;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;AC244517.6,upstream_gene_variant,,ENST00000623884,;PCDHB16,upstream_gene_variant,,ENST00000625044,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,downstream_gene_variant,,ENST00000624089,;AC244517.4,downstream_gene_variant,,ENST00000624549,;AC244517.8,intron_variant,,ENST00000623995,;AC244517.6,upstream_gene_variant,,ENST00000623407,;,regulatory_region_variant,,ENSR00000317579,; A ENSG00000120322 ENST00000239444 Transcript missense_variant 2320/2740 2075/2406 692/801 V/E gTg/gAg 1 1 PCDHB8 HGNC HGNC:8693 protein_coding YES CCDS4250.1 ENSP00000239444 Q9UN66 UPI000192C41A NM_019120.4 deleterious_low_confidence(0) probably_damaging(0.939) 1/1 Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF150,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE SNV PASS GTG . . 141180109 FNDC9 . GRCh38 chr5 157342949 157342949 + Frame_Shift_Del DEL G G - 7316-47 BS_DSPH005J G G c.588del p.Glu197LysfsTer39 p.E197Kfs*39 ENST00000312349 2/2 107 92 6 44 43 0 FNDC9,frameshift_variant,p.Glu197LysfsTer39,ENST00000312349,NM_001001343.3;CYFIP2,intron_variant,,ENST00000435847,;CYFIP2,intron_variant,,ENST00000521420,NM_001291721.1;CYFIP2,intron_variant,,ENST00000522463,;CYFIP2,intron_variant,,ENST00000616178,NM_001291722.1;CYFIP2,intron_variant,,ENST00000618329,NM_014376.3;CYFIP2,intron_variant,,ENST00000620254,NM_001037333.2;FNDC9,downstream_gene_variant,,ENST00000520782,;CYFIP2,downstream_gene_variant,,ENST00000520424,;,regulatory_region_variant,,ENSR00000318141,; - ENSG00000172568 ENST00000312349 Transcript frameshift_variant 776/2125 588/675 196/224 P/X ccC/cc COSM6488623 1 -1 FNDC9 HGNC HGNC:33547 protein_coding YES CCDS4337.1 ENSP00000310594 Q8TBE3 UPI000013F2AC NM_001001343.3 2/2 mobidb-lite,hmmpanther:PTHR37361 1 HIGH 1 deletion 1 1 PASS TCGG . . 157342948 QKI . GRCh38 chr6 163562070 163562070 + Splice_Site SNP G G A rs1351273788 7316-47 BS_DSPH005J G G c.634+1G>A p.X212_splice ENST00000361752 110 71 36 30 29 0 QKI,splice_donor_variant,,ENST00000275262,NM_206854.2;QKI,splice_donor_variant,,ENST00000361195,NM_001301085.1;QKI,splice_donor_variant,,ENST00000361752,NM_006775.2;QKI,splice_donor_variant,,ENST00000392127,NM_206855.2;QKI,splice_donor_variant,,ENST00000424802,;QKI,splice_donor_variant,,ENST00000453779,NM_206853.2;QKI,splice_donor_variant,,ENST00000537041,;QKI,splice_donor_variant,,ENST00000537883,;QKI,splice_donor_variant,,ENST00000544361,;QKI,splice_donor_variant,,ENST00000544823,;QKI,splice_donor_variant,,ENST00000361758,;QKI,splice_donor_variant,,ENST00000540719,;QKI,splice_donor_variant,,ENST00000545607,;QKI,upstream_gene_variant,,ENST00000541696,; A ENSG00000112531 ENST00000361752 Transcript splice_donor_variant rs1351273788 1 1 QKI HGNC HGNC:21100 protein_coding YES CCDS5285.1 ENSP00000355094 Q96PU8 UPI0000029EBD NM_006775.2 5/7 HIGH 1 SNV 1 1 PASS CGT . . 163562070 GNAI1 . GRCh38 chr7 80135285 80135285 + Splice_Region SNP G G T novel 7316-47 BS_DSPH005J G G c.118+7G>T ENST00000351004 111 103 6 33 33 0 GNAI1,splice_region_variant,,ENST00000351004,NM_002069.5;GNAI1,upstream_gene_variant,,ENST00000418742,;GNAI1,downstream_gene_variant,,ENST00000442586,;GNAI1,upstream_gene_variant,,ENST00000457358,NM_001256414.1;GNAI1,splice_region_variant,,ENST00000490206,;,regulatory_region_variant,,ENSR00000214221,; T ENSG00000127955 ENST00000351004 Transcript splice_region_variant,intron_variant 1 1 GNAI1 HGNC HGNC:4384 protein_coding YES CCDS5595.1 ENSP00000343027 P63096 UPI000000124A NM_002069.5 1/7 LOW 1 SNV 1 1 PASS GGC . . 80135285 ANKRD20A1 . GRCh38 chr9 67901012 67901012 + Missense_Mutation SNP G A A rs200972432 7316-47 BS_DSPH005J G G c.2017G>A p.Ala673Thr p.A673T ENST00000562196 15/15 38 7 29 35 28 6 ANKRD20A1,missense_variant,p.Ala673Thr,ENST00000562196,NM_032250.3;ANKRD20A1,downstream_gene_variant,,ENST00000616155,;ANKRD20A1,downstream_gene_variant,,ENST00000622129,;BX649567.1,upstream_gene_variant,,ENST00000642071,; A ENSG00000260691 ENST00000562196 Transcript missense_variant 2297/3379 2017/2472 673/823 A/T Gcc/Acc rs200972432 1 1 ANKRD20A1 HGNC HGNC:23665 protein_coding YES CCDS6620.1 ENSP00000477695 Q5TYW2 UPI0000457755 NM_032250.3 tolerated(0.54) benign(0) 15/15 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1,Pfam_domain:PF14915,Gene3D:1.10.287.620 MODERATE 1 SNV 1 PASS TGC . . 0.2059 0.04658 0.3137 0.1902 0.2683 0.1221 0.2241 0.1879 0.1792 67901012 WDR11 . GRCh38 chr10 120858636 120858636 + Splice_Region SNP G C C rs2241846 7316-47 BS_DSPH005J G G c.199-7G>C ENST00000263461 60 3 56 39 30 9 WDR11,splice_region_variant,,ENST00000263461,NM_018117.11;WDR11,splice_region_variant,,ENST00000604585,;WDR11,splice_region_variant,,ENST00000470052,;WDR11,splice_region_variant,,ENST00000605178,;WDR11,splice_region_variant,,ENST00000605202,;WDR11,intron_variant,,ENST00000605069,;WDR11,upstream_gene_variant,,ENST00000462529,;WDR11,splice_region_variant,,ENST00000497136,;WDR11,intron_variant,,ENST00000605543,; C ENSG00000120008 ENST00000263461 Transcript splice_region_variant,intron_variant rs2241846,COSM147065 1 1 WDR11 HGNC HGNC:13831 protein_coding YES CCDS7619.1 ENSP00000263461 Q9BZH6 UPI0000138ED1 NM_018117.11 2/28 0.1843 0.0257 0.2925 0.3472 0.1571 0.182 0.05084 0.19 0,1 16642439 LOW 1 SNV 1 0,1 1 PASS TGA . . 0.2082 0.05078 0.3942 0.2515 0.3437 0.1181 0.18 0.1964 0.1632 120858636 CENPJ . GRCh38 chr13 24892872 24892873 + Splice_Region INS - - A rs746136069 7316-47 BS_DSPH005J - - c.2992-6dup ENST00000381884 83 54 16 21 16 0 CENPJ,splice_region_variant,,ENST00000381884,NM_018451.4;CENPJ,splice_region_variant,,ENST00000418179,;CENPJ,splice_region_variant,,ENST00000545981,;CENPJ,splice_region_variant,,ENST00000616936,;CENPJ,upstream_gene_variant,,ENST00000471870,; A ENSG00000151849 ENST00000381884 Transcript splice_region_variant,intron_variant rs746136069 1 -1 CENPJ HGNC HGNC:17272 protein_coding YES CCDS9310.1 ENSP00000371308 Q9HC77 UPI000013DC8A NM_018451.4 9/16 uncertain_significance,likely_benign LOW 1 insertion 1 1 1 PASS TCA . . 0.1704 0.2195 0.2543 0.1851 0.3132 0.1331 0.118 0.1779 0.2024 24892872 EPSTI1 . GRCh38 chr13 42964145 42964146 + Splice_Region INS - - A rs148862630 7316-47 BS_DSPH005J - - c.332-7dup ENST00000313640 77 67 5 34 34 0 EPSTI1,splice_region_variant,,ENST00000313624,NM_033255.3;EPSTI1,splice_region_variant,,ENST00000313640,NM_001002264.2;EPSTI1,splice_region_variant,,ENST00000398762,;EPSTI1,splice_region_variant,,ENST00000537828,;EPSTI1,splice_region_variant,,ENST00000476830,;EPSTI1,splice_region_variant,,ENST00000542706,;EPSTI1,upstream_gene_variant,,ENST00000535677,;EPSTI1,splice_region_variant,,ENST00000538562,;EPSTI1,splice_region_variant,,ENST00000540470,; A ENSG00000133106 ENST00000313640 Transcript splice_region_variant,intron_variant rs148862630 1 -1 EPSTI1 HGNC HGNC:16465 protein_coding YES CCDS31964.1 ENSP00000318982 Q96J88 UPI0000074657 NM_001002264.2 3/12 0.0252 0.093 0.0043 0.07837 0.0008483 LOW 1 insertion 1 PASS GGA . . 0.006656 0.0858 0.005046 0.0001351 0.0002923 0.0007146 0.004766 0.0005899 42964145 FCGBP . GRCh38 chr19 39902257 39902257 + Missense_Mutation SNP T T G rs587698183 7316-47 BS_DSPH005J T T c.1174A>C p.Asn392Thr p.N392T ENST00000616721 2/22 69 42 26 26 25 1 FCGBP,missense_variant,p.Asn392Thr,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Asn389Thr,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 1174/9382 1175/9219 392/3072 N/T aAt/aCt rs587698183 1 -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2 UPI000BAD598C NM_003890.2 tolerated(1) benign(0) 2/22 Pfam_domain:PF08742,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF244,SMART_domains:SM00832 0.0010 0.0023 0.001 0.001 MODERATE 1 SNV 1 PASS ATT . . 1.968e-05 0.0001523 0.0001228 1.136e-05 39902257 LILRA1 . GRCh38 chr19 54595789 54595789 + Missense_Mutation SNP C C G rs1006660661 7316-47 BS_DSPH005J C C c.812C>G p.Pro271Arg p.P271R ENST00000251372 6/10 125 102 16 55 54 1 LILRA1,missense_variant,p.Pro271Arg,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; G ENSG00000104974 ENST00000251372 Transcript missense_variant 994/1910 812/1470 271/489 P/R cCa/cGa rs1006660661 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(1) benign(0.001) 6/10 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CCA . . 4.061e-06 8.952e-06 54595789 GATA5 . GRCh38 chr20 62465830 62465830 + Splice_Region SNP G G A rs782687806 7316-47 BS_DSPH005J G G c.913+4C>T ENST00000252997 133 124 6 38 36 0 GATA5,splice_region_variant,,ENST00000252997,NM_080473.4; A ENSG00000130700 ENST00000252997 Transcript splice_region_variant,intron_variant rs782687806 1 -1 GATA5 HGNC HGNC:15802 protein_coding YES CCDS13499.1 ENSP00000252997 Q9BWX5 UPI000012B10C NM_080473.4 5/6 LOW 1 SNV 1 1 PASS CGC . . 2.633e-05 7.175e-05 5.854e-05 0.0001182 62465830 SLFNL1 . GRCh38 chr1 41018134 41018136 + In_Frame_Del DEL TCC TCC - rs766432124 7316-160 BS_Q5ABAC4M TCC TCC c.456_458del p.Glu152del p.E152del ENST00000359345 2/4 105 87 7 47 45 0 SLFNL1,inframe_deletion,p.Glu152del,ENST00000359345,NM_144990.3;SLFNL1,inframe_deletion,p.Glu152del,ENST00000372613,;SLFNL1,inframe_deletion,p.Glu152del,ENST00000439569,NM_001168247.2;SLFNL1,inframe_deletion,p.Glu152del,ENST00000302946,;SLFNL1,intron_variant,,ENST00000372611,NM_001300859.1;SLFNL1-AS1,non_coding_transcript_exon_variant,,ENST00000626479,; - ENSG00000171790 ENST00000359345 Transcript inframe_deletion 3033-3035/4310 456-458/1224 152-153/407 ED/D gaGGAc/gac rs766432124,COSM1288081 1 -1 SLFNL1 HGNC HGNC:26313 protein_coding YES CCDS460.1 ENSP00000352299 Q499Z3 A0A140VJU6 UPI000013E83F NM_144990.3 2/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12155:SF29,hmmpanther:PTHR12155 0.005053 0.01017 0,1 MODERATE 1 deletion 1 0,1 PASS TGTCCT . . 0.006243 0.005643 0.006742 0.006846 0.004798 0.007875 0.00534 0.0064 0.007731 41018133 MUC7 . GRCh38 chr4 70481523 70481523 + Missense_Mutation SNP T T C rs145745951 7316-160 BS_Q5ABAC4M T T c.779T>C p.Val260Ala p.V260A ENST00000413702 4/4 71 58 10 32 30 0 MUC7,missense_variant,p.Val260Ala,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Val260Ala,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Val260Ala,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,; C ENSG00000171195 ENST00000413702 Transcript missense_variant 1067/2540 779/1134 260/377 V/A gTc/gCc rs145745951,COSM226968 1 1 MUC7 HGNC HGNC:7518 protein_coding YES CCDS3541.1 ENSP00000407422 Q8TAX7 UPI000013E9DD NM_001145006.1 tolerated(1) benign(0) 4/4 hmmpanther:PTHR41683,mobidb-lite,Low_complexity_(Seg):seg 0.0032 0.0038 0.0029 0.008 0.001 0,1 MODERATE 1 SNV 4 0,1 1 PASS GTC . . 3.292e-05 6.609e-05 6.324e-05 70481523 PCDHB4 . GRCh38 chr5 141123440 141123440 + Missense_Mutation SNP C C T rs1245332118 7316-160 BS_Q5ABAC4M C C c.1442C>T p.Thr481Ile p.T481I ENST00000194152 1/1 98 85 11 43 43 0 PCDHB4,missense_variant,p.Thr481Ile,ENST00000194152,NM_018938.3;AC244517.1,downstream_gene_variant,,ENST00000606030,;AC244517.2,intron_variant,,ENST00000624802,;AC244517.2,intron_variant,,ENST00000625066,;AC244517.2,intron_variant,,ENST00000625128,;PCDHB4,non_coding_transcript_exon_variant,,ENST00000623478,;,regulatory_region_variant,,ENSR00000317574,; T ENSG00000081818 ENST00000194152 Transcript missense_variant 1642/3825 1442/2388 481/795 T/I aCc/aTc rs1245332118,COSM6244436 1 1 PCDHB4 HGNC HGNC:8689 protein_coding YES CCDS4246.1 ENSP00000194152 Q9Y5E5 UPI00001273DF NM_018938.3 tolerated_low_confidence(0.13) benign(0.01) 1/1 Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 0,1 MODERATE 1 SNV 0,1 PASS ACC . . 141123440 HLA-DRB5 . GRCh38 chr6 32530141 32530141 + Missense_Mutation SNP C C G rs72508462 7316-160 BS_Q5ABAC4M C C c.84G>C p.Leu28Phe p.L28F ENST00000374975 1/6 89 76 11 41 40 0 HLA-DRB5,missense_variant,p.Leu28Phe,ENST00000374975,NM_002125.3; G ENSG00000198502 ENST00000374975 Transcript missense_variant 147/1260 84/801 28/266 L/F ttG/ttC rs72508462,COSM4155185 1 -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154 UPI000008AF56 NM_002125.3 tolerated(0.31) probably_damaging(0.997) 1/6 Gene3D:3.10.320.10,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF84,Superfamily_domains:SSF54452,Cleavage_site_(Signalp):SignalP-noTM 0,1 MODERATE 1 SNV 0,1 PASS CCA . . 0.06331 0.09904 0.03102 0.1179 0.04585 0.03175 0.06081 0.06478 0.1191 32530141 TRBV5-3 . GRCh38 chr7 142389370 142389370 + Splice_Region SNP C C T rs748337645 7316-160 BS_Q5ABAC4M C C c.50-5C>T ENST00000390362 111 91 18 53 52 1 TRBV5-3,splice_region_variant,,ENST00000390362,;TRBV7-3,downstream_gene_variant,,ENST00000390361,;TRBV9,upstream_gene_variant,,ENST00000390363,;TRBV8-2,downstream_gene_variant,,ENST00000475637,; T ENSG00000211715 ENST00000390362 Transcript splice_region_variant,intron_variant rs748337645 1 1 TRBV5-3 HGNC HGNC:12220 TR_V_gene YES ENSP00000374885 A0A0A0MS03 UPI000011DFCC 1/1 LOW 1 SNV PASS CCA . . 142389370 TRBV5-3 . GRCh38 chr7 142389371 142389371 + Splice_Region SNP A A G rs779037578 7316-160 BS_Q5ABAC4M A A c.50-4A>G ENST00000390362 112 89 19 53 52 1 TRBV5-3,splice_region_variant,,ENST00000390362,;TRBV7-3,downstream_gene_variant,,ENST00000390361,;TRBV9,upstream_gene_variant,,ENST00000390363,;TRBV8-2,downstream_gene_variant,,ENST00000475637,; G ENSG00000211715 ENST00000390362 Transcript splice_region_variant,intron_variant rs779037578 1 1 TRBV5-3 HGNC HGNC:12220 TR_V_gene YES ENSP00000374885 A0A0A0MS03 UPI000011DFCC 1/1 LOW 1 SNV PASS CAC . . 142389371 ZNF777 . GRCh38 chr7 149455655 149455655 + Missense_Mutation SNP T T G rs538882557 7316-160 BS_Q5ABAC4M T T c.368A>C p.His123Pro p.H123P ENST00000247930 2/6 70 50 7 33 30 1 ZNF777,missense_variant,p.His123Pro,ENST00000247930,NM_015694.2; G ENSG00000196453 ENST00000247930 Transcript missense_variant 692/3233 368/2496 123/831 H/P cAc/cCc rs538882557,COSM5764431 1 -1 ZNF777 HGNC HGNC:22213 protein_coding YES CCDS43675.1 ENSP00000247930 Q9ULD5 UPI0000E9B152 NM_015694.2 tolerated_low_confidence(0.19) benign(0) 2/6 mobidb-lite,hmmpanther:PTHR44987 0.0018 0.0023 0.0014 0.003 0.002 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.001416 0.000472 0.003982 0.002394 0.002934 0.0003648 0.0006991 0.001842 0.002543 149455655 SPATA31D1 . GRCh38 chr9 81991242 81991242 + Missense_Mutation SNP T T C rs200253689 7316-160 BS_Q5ABAC4M T T c.772T>C p.Ser258Pro p.S258P ENST00000344803 4/4 100 82 15 58 57 1 SPATA31D1,missense_variant,p.Ser258Pro,ENST00000344803,NM_001001670.2;AL162726.3,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,; C ENSG00000214929 ENST00000344803 Transcript missense_variant 819/4833 772/4731 258/1576 S/P Tcc/Ccc rs200253689 1 1 SPATA31D1 HGNC HGNC:37283 protein_coding YES CCDS47986.1 ENSP00000341988 Q6ZQQ2 UPI00001C10A6 NM_001001670.2 tolerated(1) benign(0) 4/4 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF12 MODERATE 1 SNV 2 PASS GTC . . 0.001539 0.0216 0.001646 0.0001743 0.0001841 0.0002283 0.0005622 0.0004598 81991242 DGKZ . GRCh38 chr11 46347688 46347688 + Missense_Mutation SNP C C A rs76656670 7316-160 BS_Q5ABAC4M C C c.29C>A p.Ala10Asp p.A10D ENST00000456247 1/31 105 87 18 31 30 0 DGKZ,missense_variant,p.Ala10Asp,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala10Asp,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 117/3482 29/2787 10/928 A/D gCc/gAc rs76656670,COSM228548 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 tolerated_low_confidence(0.59) probably_damaging(0.991) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS GCC . . 0.3023 0.1359 0.2655 0.3276 0.1687 0.35 0.3649 0.3035 0.2366 46347688 DGKZ . GRCh38 chr11 46347717 46347717 + Missense_Mutation SNP G G A rs114974750 7316-160 BS_Q5ABAC4M G G c.58G>A p.Ala20Thr p.A20T ENST00000456247 1/31 100 85 15 32 30 0 DGKZ,missense_variant,p.Ala20Thr,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala20Thr,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,;,TF_binding_site_variant,,MA0062.2,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 146/3482 58/2787 20/928 A/T Gcc/Acc rs114974750,COSM4145731 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 deleterious_low_confidence(0.03) probably_damaging(0.982) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS CGC . . 0.4767 0.35 0.4856 0.4749 0.4896 0.4884 0.484 0.4752 0.4585 46347717 FOLH1 . GRCh38 chr11 49186767 49186767 + Splice_Region SNP G G A rs79155991 7316-160 BS_Q5ABAC4M G G c.516C>T p.Gly172= p.G172= ENST00000256999 5/19 100 86 12 37 36 0 FOLH1,splice_region_variant,p.Gly157=,ENST00000340334,NM_001193471.1;FOLH1,splice_region_variant,p.Gly172=,ENST00000256999,NM_004476.1,NM_001193473.1;FOLH1,splice_region_variant,p.Gly172=,ENST00000356696,NM_001014986.1;FOLH1,splice_region_variant,p.Gly157=,ENST00000533034,NM_001193472.1;FOLH1,splice_region_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000526226,;FOLH1,upstream_gene_variant,,ENST00000458311,; A ENSG00000086205 ENST00000256999 Transcript splice_region_variant,synonymous_variant 777/2635 516/2253 172/750 G ggC/ggT rs79155991,COSM5050864 1 -1 FOLH1 HGNC HGNC:3788 protein_coding YES CCDS7946.1 ENSP00000256999 Q04609 UPI0000000A01 NM_004476.1,NM_001193473.1 5/19 Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36,Superfamily_domains:SSF52025,cd02121 0.01567 0.005351 benign 0,1 LOW 1 SNV 1 0,1 PASS CGC . . 0.003783 0.01679 0.002774 0.002618 0.0004347 0.004932 0.002839 0.005187 0.002445 49186767 OR5D3P . GRCh38 chr11 55726896 55726896 + Missense_Mutation SNP T T C rs562473412 7316-160 BS_Q5ABAC4M T T c.710T>C p.Met237Thr p.M237T ENST00000641440 2/2 74 65 8 36 36 0 OR5D3P,missense_variant,p.Met237Thr,ENST00000641440,;,regulatory_region_variant,,ENSR00000264014,; C ENSG00000186886 ENST00000641440 Transcript missense_variant 960/3685 710/972 237/323 M/T aTg/aCg rs562473412,COSM6335550 1 1 OR5D3P HGNC HGNC:8336 protein_coding YES ENSP00000493820 UPI000D1913A5 deleterious(0) benign(0.097) 2/2 cd15410,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF210,hmmpanther:PTHR26452 0,1 MODERATE 1 SNV 0,1 PASS ATG . . 55726896 OR5D3P . GRCh38 chr11 55726935 55726935 + Missense_Mutation SNP G G C rs560827049 7316-160 BS_Q5ABAC4M G G c.749G>C p.Cys250Ser p.C250S ENST00000641440 2/2 75 67 8 32 32 0 OR5D3P,missense_variant,p.Cys250Ser,ENST00000641440,;,regulatory_region_variant,,ENSR00000264014,;,TF_binding_site_variant,,MA0281.1,;,TF_binding_site_variant,,MA0281.1,; C ENSG00000186886 ENST00000641440 Transcript missense_variant 999/3685 749/972 250/323 C/S tGt/tCt rs560827049,COSM6335586 1 1 OR5D3P HGNC HGNC:8336 protein_coding YES ENSP00000493820 UPI000D1913A5 deleterious(0.01) possibly_damaging(0.51) 2/2 cd15410,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF210,hmmpanther:PTHR26452,Transmembrane_helices:TMhelix,Prints_domain:PR00245 0.0014 0.0023 0.0014 0.003 0,1 MODERATE 1 SNV 0,1 PASS TGT . . 55726935 ZSCAN29 . GRCh38 chr15 43369817 43369817 + Missense_Mutation SNP G G A 7316-160 BS_Q5ABAC4M G G c.97C>T p.Arg33Trp p.R33W ENST00000396976 1/5 90 82 6 41 41 0 ZSCAN29,missense_variant,p.Arg33Trp,ENST00000396976,NM_152455.3;ZSCAN29,missense_variant,p.Arg32Trp,ENST00000562072,;ZSCAN29,missense_variant,p.Arg32Trp,ENST00000568898,;ZSCAN29,5_prime_UTR_variant,,ENST00000396972,;TUBGCP4,upstream_gene_variant,,ENST00000260383,NM_001286414.2;ZSCAN29,downstream_gene_variant,,ENST00000561661,;TUBGCP4,upstream_gene_variant,,ENST00000564079,NM_014444.4;ZSCAN29,upstream_gene_variant,,ENST00000570181,;TUBGCP4,intron_variant,,ENST00000570081,;ZSCAN29,downstream_gene_variant,,ENST00000563508,;ZSCAN29,missense_variant,p.Arg33Trp,ENST00000566849,;TUBGCP4,upstream_gene_variant,,ENST00000563517,; A ENSG00000140265 ENST00000396976 Transcript missense_variant 232/5595 97/2559 33/852 R/W Cgg/Tgg COSM6834352 1 -1 ZSCAN29 HGNC HGNC:26673 protein_coding YES CCDS10095.2 ENSP00000380174 Q8IWY8 UPI0000DA5AF5 NM_152455.3 deleterious(0) probably_damaging(0.998) 1/5 PROSITE_profiles:PS50804,cd07936,hmmpanther:PTHR44428,hmmpanther:PTHR44428:SF3,Gene3D:1.10.4020.10,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353 1 MODERATE 1 SNV 1 1 PASS CGC . . 43369817 RRN3 . GRCh38 chr16 15084642 15084642 + Missense_Mutation SNP G G A rs76732059 7316-160 BS_Q5ABAC4M G G c.596C>T p.Ser199Leu p.S199L ENST00000198767 7/18 102 86 15 35 35 0 RRN3,missense_variant,p.Ser199Leu,ENST00000198767,NM_018427.4;RRN3,missense_variant,p.Ser169Leu,ENST00000429751,NM_001301064.1;RRN3,missense_variant,p.Ser199Leu,ENST00000563559,;RRN3,missense_variant,p.Ser166Leu,ENST00000327307,;RRN3,missense_variant,p.Ser199Leu,ENST00000564131,;PDXDC1,intron_variant,,ENST00000535621,NM_001324021.1,NM_001324020.1,NM_001285449.1;RRN3,upstream_gene_variant,,ENST00000561685,; A ENSG00000085721 ENST00000198767 Transcript missense_variant,splice_region_variant 680/3762 596/1956 199/651 S/L tCg/tTg rs76732059,COSM3764542 1 -1 RRN3 HGNC HGNC:30346 protein_coding YES CCDS10559.1 ENSP00000198767 Q9NYV6 UPI000006E1BF NM_018427.4 tolerated(0.76) benign(0.099) 7/18 hmmpanther:PTHR12790,Pfam_domain:PF05327,Gene3D:1.25.10.10 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 0.2365 0.4154 0.2115 0.1931 0.2012 0.1897 0.2222 0.2091 0.3093 15084642 MID1 . GRCh38 chrX 10523193 10523194 + Splice_Region INS - - A rs375668839 7316-160 BS_Q5ABAC4M - - c.661-7dup ENST00000317552 50 30 10 23 17 0 MID1,splice_region_variant,,ENST00000317552,NM_000381.3,NM_033289.1;MID1,splice_region_variant,,ENST00000380779,NM_001193277.1;MID1,splice_region_variant,,ENST00000380780,NM_001347733.1;MID1,splice_region_variant,,ENST00000380782,;MID1,splice_region_variant,,ENST00000380785,;MID1,splice_region_variant,,ENST00000380787,NM_033290.3;MID1,splice_region_variant,,ENST00000413894,;MID1,splice_region_variant,,ENST00000453318,NM_001098624.2;MID1,splice_region_variant,,ENST00000610939,NM_001193281.1;MID1,splice_region_variant,,ENST00000616003,NM_001193279.1,NM_001193280.1,NM_001193278.1; A ENSG00000101871 ENST00000317552 Transcript splice_region_variant,intron_variant rs375668839 1 -1 MID1 HGNC HGNC:7095 protein_coding YES CCDS14138.1 ENSP00000312678 O15344 A0A024RBV4 UPI000012F0E6 NM_000381.3,NM_033289.1 2/9 benign 25741868 LOW 1 insertion 1 1 PASS TCA . . 0.1364 0.1859 0.1342 0.1497 0.1694 0.1003 0.1252 0.1315 0.152 10523193 PRAMEF1 . GRCh38 chr1 12795449 12795449 + Missense_Mutation SNP A A T rs200964387 7316-2959 BS_R333SVK1 A A c.878A>T p.Asn293Ile p.N293I ENST00000332296 4/4 43 35 8 25 25 0 PRAMEF1,missense_variant,p.Asn293Ile,ENST00000332296,NM_023013.4;PRAMEF1,non_coding_transcript_exon_variant,,ENST00000400814,NM_001294139.1; T ENSG00000116721 ENST00000332296 Transcript missense_variant 981/2160 878/1425 293/474 N/I aAc/aTc rs200964387 1 1 PRAMEF1 HGNC HGNC:28840 protein_coding YES CCDS148.1 ENSP00000332134 O95521 UPI0004620BB8 NM_023013.4 tolerated(0.07) possibly_damaging(0.474) 4/4 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2,Superfamily_domains:SSF52047 0.0042 0.0099 0.002 0.0092 MODERATE 1 SNV 1 PASS AAC . . 8.7e-05 2.999e-05 0.0002926 9.039e-05 8.26e-05 0.0001851 9.947e-05 12795449 PRAMEF1 . GRCh38 chr1 12795450 12795450 + Missense_Mutation SNP C C G rs201576054 7316-2959 BS_R333SVK1 C C c.879C>G p.Asn293Lys p.N293K ENST00000332296 4/4 43 35 8 25 25 0 PRAMEF1,missense_variant,p.Asn293Lys,ENST00000332296,NM_023013.4;PRAMEF1,non_coding_transcript_exon_variant,,ENST00000400814,NM_001294139.1; G ENSG00000116721 ENST00000332296 Transcript missense_variant 982/2160 879/1425 293/474 N/K aaC/aaG rs201576054 1 1 PRAMEF1 HGNC HGNC:28840 protein_coding YES CCDS148.1 ENSP00000332134 O95521 UPI0004620BB8 NM_023013.4 deleterious(0.04) benign(0.357) 4/4 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2,Superfamily_domains:SSF52047 0.0042 0.0099 0.002 0.0092 MODERATE 1 SNV 1 PASS ACC . . 9.128e-05 3e-05 0.000293 9.054e-05 9.193e-05 0.0001852 9.969e-05 12795450 PRAMEF14 . GRCh38 chr1 13344082 13344082 + Missense_Mutation SNP T T C rs1319937739 7316-2959 BS_R333SVK1 T T c.822A>G p.Ile274Met p.I274M ENST00000334600 3/4 31 26 5 26 26 0 PRAMEF14,missense_variant,p.Ile274Met,ENST00000334600,NM_001024661.2;PRAMEF14,upstream_gene_variant,,ENST00000602491,; C ENSG00000204481 ENST00000334600 Transcript missense_variant 925/1690 822/1425 274/474 I/M atA/atG rs1319937739 1 -1 PRAMEF14 HGNC HGNC:13576 protein_coding YES CCDS76109.1 ENSP00000334410 A6NFR9 UPI000013DEF2 NM_001024661.2 tolerated(0.77) benign(0.003) 3/4 hmmpanther:PTHR14224:SF2,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286,Gene3D:3.80.10.10,Superfamily_domains:SSF52047 MODERATE 1 SNV 5 PASS TTA . . 13344082 RPS6KA1 . GRCh38 chr1 26529958 26529958 + Missense_Mutation SNP T T G novel 7316-2959 BS_R333SVK1 T T c.38T>G p.Met13Arg p.M13R ENST00000374168 1/22 90 75 13 47 44 1 RPS6KA1,missense_variant,p.Met13Arg,ENST00000374168,NM_002953.3;RPS6KA1,missense_variant,p.Met13Arg,ENST00000374166,;RPS6KA1,upstream_gene_variant,,ENST00000526792,;RPS6KA1,upstream_gene_variant,,ENST00000529454,;RPS6KA1,missense_variant,p.Met13Arg,ENST00000525525,;RPS6KA1,missense_variant,p.Met13Arg,ENST00000526040,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000524436,;,regulatory_region_variant,,ENSR00000003562,; G ENSG00000117676 ENST00000374168 Transcript missense_variant 192/3186 38/2208 13/735 M/R aTg/aGg 1 1 RPS6KA1 HGNC HGNC:10430 protein_coding CCDS284.1 ENSP00000363283 Q15418 UPI000012DB2C NM_002953.3 tolerated_low_confidence(0.07) benign(0.005) 1/22 hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF43,PIRSF_domain:PIRSF000606 MODERATE 1 SNV 1 PASS ATG . . 26529958 ZNF697 . GRCh38 chr1 119623350 119623350 + Missense_Mutation SNP A A C novel 7316-2959 BS_R333SVK1 A A c.993T>G p.His331Gln p.H331Q ENST00000421812 3/3 88 70 5 35 34 0 ZNF697,missense_variant,p.His331Gln,ENST00000421812,NM_001080470.1; C ENSG00000143067 ENST00000421812 Transcript missense_variant 1113/5041 993/1638 331/545 H/Q caT/caG 1 -1 ZNF697 HGNC HGNC:32034 protein_coding YES CCDS44202.1 ENSP00000396857 Q5TEC3 UPI0000DD78D7 NM_001080470.1 tolerated(0.29) benign(0.06) 3/3 Gene3D:2.40.155.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44153,hmmpanther:PTHR44153:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667,Low_complexity_(Seg):seg MODERATE 1 SNV 3 PASS GAT . . 119623350 SIX3 . GRCh38 chr2 44942259 44942259 + Missense_Mutation SNP A A C novel 7316-2959 BS_R333SVK1 A A c.155A>C p.Asn52Thr p.N52T ENST00000260653 1/2 88 74 14 48 48 0 SIX3,missense_variant,p.Asn52Thr,ENST00000260653,NM_005413.3;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;LINC01833,upstream_gene_variant,,ENST00000437916,;LINC01833,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;RF02250,downstream_gene_variant,,ENST00000611000,;RF02251,downstream_gene_variant,,ENST00000620790,;RF02252,downstream_gene_variant,,ENST00000621512,;,regulatory_region_variant,,ENSR00000116339,; C ENSG00000138083 ENST00000260653 Transcript missense_variant 362/2523 155/999 52/332 N/T aAc/aCc 1 1 SIX3 HGNC HGNC:10889 protein_coding YES CCDS1821.1 ENSP00000260653 O95343 UPI00001359C4 NM_005413.3 tolerated_low_confidence(0.63) benign(0) 1/2 hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 44942259 B3GNT7 . GRCh38 chr2 231395805 231395805 + Translation_Start_Site SNP T T G novel 7316-2959 BS_R333SVK1 T T c.2T>G p.Met1? p.M1? ENST00000287590 1/2 110 90 13 39 38 0 B3GNT7,start_lost,p.Met1?,ENST00000287590,NM_145236.2;AC017104.1,downstream_gene_variant,,ENST00000415129,;AC017104.1,downstream_gene_variant,,ENST00000454416,;B3GNT7,upstream_gene_variant,,ENST00000479618,;AC017104.1,downstream_gene_variant,,ENST00000418050,;,regulatory_region_variant,,ENSR00000131820,; G ENSG00000156966 ENST00000287590 Transcript start_lost 263/3706 2/1206 1/401 M/R aTg/aGg 1 1 B3GNT7 HGNC HGNC:18811 protein_coding YES CCDS46540.1 ENSP00000287590 Q8NFL0 UPI000006D18A NM_145236.2 deleterious_low_confidence(0) benign(0.059) 1/2 HIGH 1 SNV 1 PASS ATG . . 231395805 TRIM60 . GRCh38 chr4 165041268 165041268 + Nonsense_Mutation SNP C C G novel 7316-2959 BS_R333SVK1 C C c.1196C>G p.Ser399Ter p.S399* ENST00000512596 3/3 78 60 17 55 54 0 TRIM60,stop_gained,p.Ser399Ter,ENST00000512596,NM_152620.2;TRIM60,stop_gained,p.Ser399Ter,ENST00000341062,;TRIM60,stop_gained,p.Ser399Ter,ENST00000508504,NM_001258025.1;TRIM60,downstream_gene_variant,,ENST00000507119,;AC106872.7,upstream_gene_variant,,ENST00000508621,; G ENSG00000176979 ENST00000512596 Transcript stop_gained 1412/1888 1196/1416 399/471 S/* tCa/tGa 1 1 TRIM60 HGNC HGNC:21162 protein_coding YES CCDS3808.1 ENSP00000421142 Q495X7 UPI000006DAAD NM_152620.2 3/3 Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF304,SMART_domains:SM00449,Superfamily_domains:SSF49899,cd15828 HIGH 1 SNV 2 PASS TCA . . 165041268 PRDM9 . GRCh38 chr5 23527195 23527195 + Missense_Mutation SNP T T C rs112981617 7316-2959 BS_R333SVK1 T T c.2107T>C p.Trp703Arg p.W703R ENST00000296682 11/11 32 20 6 26 23 0 PRDM9,missense_variant,p.Trp703Arg,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,;,regulatory_region_variant,,ENSR00000314203,; C ENSG00000164256 ENST00000296682 Transcript missense_variant 2289/3691 2107/2685 703/894 W/R Tgg/Cgg rs112981617 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(0.5) benign(0.005) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CTG . . 5.107e-05 0.000107 0.0001081 0.0001108 3.411e-05 0.0003411 23527195 PRDM9 . GRCh38 chr5 23527226 23527226 + Missense_Mutation SNP C C G rs201504954 7316-2959 BS_R333SVK1 C C c.2138C>G p.Thr713Arg p.T713R ENST00000296682 11/11 34 28 6 27 25 0 PRDM9,missense_variant,p.Thr713Arg,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,;,regulatory_region_variant,,ENSR00000314203,; G ENSG00000164256 ENST00000296682 Transcript missense_variant 2320/3691 2138/2685 713/894 T/R aCa/aGa rs201504954,COSM314410 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 deleterious(0) possibly_damaging(0.447) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ACA . . 0.000189 0.0001803 0.0002502 0.0005424 0.0001813 4.969e-05 0.0002138 0.0002714 4.338e-05 23527226 FBXL17 . GRCh38 chr5 108380946 108380946 + Missense_Mutation SNP T T G novel 7316-2959 BS_R333SVK1 T T c.746A>C p.Gln249Pro p.Q249P ENST00000542267 1/9 111 98 11 47 46 1 FBXL17,missense_variant,p.Gln249Pro,ENST00000542267,NM_001163315.2;FBXL17,5_prime_UTR_variant,,ENST00000359660,;FBXL17,intron_variant,,ENST00000619412,;FBXL17,non_coding_transcript_exon_variant,,ENST00000518486,;,regulatory_region_variant,,ENSR00000184969,; G ENSG00000145743 ENST00000542267 Transcript missense_variant 1153/5188 746/2106 249/701 Q/P cAg/cCg 1 -1 FBXL17 HGNC HGNC:13615 protein_coding YES CCDS54886.1 ENSP00000437464 Q9UF56 UPI00019B21FB NM_001163315.2 tolerated_low_confidence(0.1) benign(0) 1/9 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CTG . . 108380946 PCDHGA5 . GRCh38 chr5 141366069 141366069 + Missense_Mutation SNP G G A rs544928184 7316-2959 BS_R333SVK1 G G c.1739G>A p.Arg580His p.R580H ENST00000518069 1/4 98 82 16 29 29 0 PCDHGA5,missense_variant,p.Arg580His,ENST00000518069,NM_018918.2;PCDHGA5,missense_variant,p.Arg580His,ENST00000611914,NM_032054.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGB3,upstream_gene_variant,,ENST00000576222,NM_018924.4;PCDHGB3,upstream_gene_variant,,ENST00000618934,NM_032097.2;PCDHGB2,downstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGA3,intron_variant,,ENST00000612467,;,regulatory_region_variant,,ENSR00000317593,; A ENSG00000253485 ENST00000518069 Transcript missense_variant 1739/4602 1739/2796 580/931 R/H cGc/cAc rs544928184,COSM3207234 1 1 PCDHGA5 HGNC HGNC:8703 protein_coding YES CCDS54925.1 ENSP00000429834 Q9Y5G8 UPI000006CD9F NM_018918.2 deleterious_low_confidence(0.01) benign(0.344) 1/4 Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Superfamily_domains:SSF49313,cd11304 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 1.218e-05 2.686e-05 141366069 ARID1B . GRCh38 chr6 156778199 156778201 + In_Frame_Del DEL CCA CCA - rs756208522 7316-2959 BS_R333SVK1 CCA CCA c.285_287del p.His96del p.H96del ENST00000346085 1/20 90 77 6 33 32 0 ARID1B,inframe_deletion,p.His96del,ENST00000346085,NM_020732.3;ARID1B,inframe_deletion,p.His96del,ENST00000636930,;ARID1B,inframe_deletion,p.His96del,ENST00000350026,NM_017519.2;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000604082,;MIR4466,downstream_gene_variant,,ENST00000606121,;AL355297.4,intron_variant,,ENST00000603191,;AL355297.2,downstream_gene_variant,,ENST00000604792,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; - ENSG00000049618 ENST00000346085 Transcript inframe_deletion 826-828/10194 270-272/6750 90-91/2249 AH/A gcCCAc/gcc rs756208522 1 1 ARID1B HGNC HGNC:18040 protein_coding YES CCDS55072.1 ENSP00000344546 Q8NFD5 UPI000058E4B2 NM_020732.3 1/20 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:3.40.50.1980 0.02347 0.01749 MODERATE 1 deletion 1 15 1 PASS GCCCAC . . 0.000572 0.004379 0.0005604 0.002095 0.0002394 0.0001381 156778198 ZAN . GRCh38 chr7 100752473 100752473 + Missense_Mutation SNP C C T rs199814972 7316-2959 BS_R333SVK1 C C c.2368C>T p.Pro790Ser p.P790S ENST00000613979 14/48 34 24 6 24 21 0 ZAN,missense_variant,p.Pro790Ser,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Pro790Ser,ENST00000618565,;ZAN,missense_variant,p.Pro790Ser,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Pro790Ser,ENST00000546292,;ZAN,missense_variant,p.Pro790Ser,ENST00000542585,;ZAN,missense_variant,p.Pro790Ser,ENST00000538115,;ZAN,missense_variant,p.Pro790Ser,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,; T ENSG00000146839 ENST00000613979 Transcript missense_variant 2533/8669 2368/8439 790/2812 P/S Ccc/Tcc rs199814972,COSM3630938 1 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 A0A087WU49 UPI000441C79E NM_003386.2 tolerated(0.1) benign(0.268) 14/48 Low_complexity_(Seg):seg,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 100752473 ZNF282 . GRCh38 chr7 149223928 149223928 + Missense_Mutation SNP A A C novel 7316-2959 BS_R333SVK1 A A c.1297A>C p.Ile433Leu p.I433L ENST00000610704 8/8 68 55 11 18 17 0 ZNF282,missense_variant,p.Ile433Leu,ENST00000610704,NM_003575.3;ZNF282,missense_variant,p.Ile433Leu,ENST00000479907,NM_001303481.1;ZNF282,non_coding_transcript_exon_variant,,ENST00000470381,; C ENSG00000170265 ENST00000610704 Transcript missense_variant 1402/3722 1297/2016 433/671 I/L Atc/Ctc 1 1 ZNF282 HGNC HGNC:13076 protein_coding YES CCDS5895.1 ENSP00000477841 Q9UDV7 A0A090N8Y3 UPI000013D255 NM_003575.3 tolerated(0.81) benign(0) 8/8 hmmpanther:PTHR44963,mobidb-lite MODERATE 1 SNV 1 PASS CAT . . 149223928 REPIN1 . GRCh38 chr7 150368944 150368944 + Splice_Region SNP A A C novel 7316-2959 BS_R333SVK1 A A c.-42+3A>C ENST00000489432 97 83 11 35 34 0 REPIN1,splice_region_variant,,ENST00000397281,NM_013400.3;REPIN1,splice_region_variant,,ENST00000444957,NM_001099696.2;REPIN1,splice_region_variant,,ENST00000466559,;REPIN1,splice_region_variant,,ENST00000475514,;AC073111.3,splice_region_variant,,ENST00000478789,;REPIN1,splice_region_variant,,ENST00000482680,;REPIN1,splice_region_variant,,ENST00000488943,;REPIN1,splice_region_variant,,ENST00000489432,NM_001099695.1;REPIN1,synonymous_variant,p.Val14=,ENST00000518514,;REPIN1,intron_variant,,ENST00000479668,;REPIN1,intron_variant,,ENST00000519397,;REPIN1,upstream_gene_variant,,ENST00000425389,NM_014374.3;AC005586.1,intron_variant,,ENST00000488310,;REPIN1,upstream_gene_variant,,ENST00000518462,;REPIN1,splice_region_variant,,ENST00000473391,;REPIN1,synonymous_variant,p.Val14=,ENST00000467980,;REPIN1,synonymous_variant,p.Val14=,ENST00000522266,;REPIN1,non_coding_transcript_exon_variant,,ENST00000469309,;REPIN1,non_coding_transcript_exon_variant,,ENST00000495535,;REPIN1,intron_variant,,ENST00000487455,;REPIN1,upstream_gene_variant,,ENST00000486714,;,regulatory_region_variant,,ENSR00000219696,; C ENSG00000214022 ENST00000489432 Transcript splice_region_variant,intron_variant 1 1 REPIN1 HGNC HGNC:17922 protein_coding YES CCDS47745.1 ENSP00000417291 Q9BWE0 UPI0001596898 NM_001099695.1 1/2 LOW 1 SNV 2 PASS TAC . . 150368944 XKR6 . GRCh38 chr8 11201015 11201015 + Missense_Mutation SNP T T G novel 7316-2959 BS_R333SVK1 T T c.325A>C p.Thr109Pro p.T109P ENST00000416569 1/3 113 98 14 25 24 0 XKR6,missense_variant,p.Thr109Pro,ENST00000416569,NM_173683.3;XKR6,missense_variant,p.Thr109Pro,ENST00000297303,;AF131215.7,upstream_gene_variant,,ENST00000602443,;XKR6,upstream_gene_variant,,ENST00000529336,;,regulatory_region_variant,,ENSR00000221033,; G ENSG00000171044 ENST00000416569 Transcript missense_variant 352/3382 325/1926 109/641 T/P Acg/Ccg 1 -1 XKR6 HGNC HGNC:27806 protein_coding YES CCDS5978.2 ENSP00000416707 Q5GH73 UPI00004C7A9D NM_173683.3 tolerated(0.27) benign(0.207) 1/3 hmmpanther:PTHR16024,hmmpanther:PTHR16024:SF9,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTC . . 11201015 LOXL2 . GRCh38 chr8 23367991 23367991 + Splice_Region SNP G G A rs767757279 7316-2959 BS_R333SVK1 G G c.355+6C>T ENST00000389131 88 72 15 38 37 0 LOXL2,splice_region_variant,,ENST00000389131,NM_002318.2;LOXL2,splice_region_variant,,ENST00000518083,;LOXL2,splice_region_variant,,ENST00000520871,;LOXL2,splice_region_variant,,ENST00000524144,;LOXL2,splice_region_variant,,ENST00000524168,;LOXL2,intron_variant,,ENST00000523833,;LOXL2,downstream_gene_variant,,ENST00000519243,;AC090197.1,downstream_gene_variant,,ENST00000519692,; A ENSG00000134013 ENST00000389131 Transcript splice_region_variant,intron_variant rs767757279 1 -1 LOXL2 HGNC HGNC:6666 protein_coding YES CCDS34864.1 ENSP00000373783 Q9Y4K0 UPI000012E7AB NM_002318.2 2/13 LOW 1 SNV 1 PASS CGT . . 1.255e-05 2.817e-05 23367991 ZNF696 . GRCh38 chr8 143296489 143296489 + Missense_Mutation SNP C C A rs1345415296 7316-2959 BS_R333SVK1 C C c.814C>A p.Gln272Lys p.Q272K ENST00000330143 3/3 133 123 8 36 35 0 ZNF696,missense_variant,p.Gln272Lys,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; A ENSG00000185730 ENST00000330143 Transcript missense_variant 1223/2795 814/1125 272/374 Q/K Cag/Aag rs1345415296 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 tolerated(1) benign(0.001) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CCA . . 143296489 NPDC1 . GRCh38 chr9 137045883 137045883 + Missense_Mutation SNP T T G novel 7316-2959 BS_R333SVK1 T T c.107A>C p.His36Pro p.H36P ENST00000371601 1/9 96 83 13 46 46 0 NPDC1,missense_variant,p.His36Pro,ENST00000371601,NM_015392.3;ENTPD2,downstream_gene_variant,,ENST00000312665,NM_001246.3;ENTPD2,downstream_gene_variant,,ENST00000355097,NM_203468.2;NPDC1,upstream_gene_variant,,ENST00000371600,;ENTPD2,downstream_gene_variant,,ENST00000469106,;NPDC1,non_coding_transcript_exon_variant,,ENST00000488145,;NPDC1,non_coding_transcript_exon_variant,,ENST00000485589,;ENTPD2,downstream_gene_variant,,ENST00000460614,;,regulatory_region_variant,,ENSR00000243127,; G ENSG00000107281 ENST00000371601 Transcript missense_variant 321/1494 107/978 36/325 H/P cAc/cCc 1 -1 NPDC1 HGNC HGNC:7899 protein_coding YES CCDS7024.1 ENSP00000360660 Q9NQX5 UPI00000361E2 NM_015392.3 tolerated(0.21) benign(0.147) 1/9 Pfam_domain:PF06809,hmmpanther:PTHR23352,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 137045883 MUC5AC . GRCh38 chr11 1193542 1193542 + Missense_Mutation SNP G G A novel 7316-2959 BS_R333SVK1 G G c.14638G>A p.Val4880Ile p.V4880I ENST00000621226 33/49 103 74 28 54 54 0 MUC5AC,missense_variant,p.Val4880Ile,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262356,; A ENSG00000215182 ENST00000621226 Transcript missense_variant 14685/17448 14638/16965 4880/5654 V/I Gtc/Atc 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.55) possibly_damaging(0.503) 33/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,SMART_domains:SM00214 MODERATE 1 SNV 5 PASS CGT . . 1193542 PPP6R3 . GRCh38 chr11 68567147 68567147 + Missense_Mutation SNP A A G novel 7316-2959 BS_R333SVK1 A A c.1109A>G p.Asn370Ser p.N370S ENST00000393801 10/25 57 31 26 54 54 0 PPP6R3,missense_variant,p.Asn370Ser,ENST00000393800,NM_001164161.1,NM_001352361.1,NM_001352368.1,NM_001352348.1,NM_001352349.1,NM_001352375.1,NM_001352367.1,NM_001352377.1;PPP6R3,missense_variant,p.Asn370Ser,ENST00000393801,NM_001164160.1,NM_001352370.1,NM_001352372.1,NM_001352364.1,NM_001352379.1;PPP6R3,missense_variant,p.Asn370Ser,ENST00000527403,NM_001352363.1,NM_001352350.1,NM_001352380.1,NM_001352378.1,NM_001352376.1,NM_001352374.1,NM_001352355.1,NM_001352366.1;PPP6R3,missense_variant,p.Asn370Ser,ENST00000265637,;PPP6R3,missense_variant,p.Asn370Ser,ENST00000524904,NM_001164162.1;PPP6R3,missense_variant,p.Asn138Ser,ENST00000534534,;PPP6R3,missense_variant,p.Asn370Ser,ENST00000524845,NM_001164163.1;PPP6R3,missense_variant,p.Asn106Ser,ENST00000534190,;PPP6R3,intron_variant,,ENST00000265636,NM_018312.4;PPP6R3,intron_variant,,ENST00000529710,NM_001164164.1;PPP6R3,non_coding_transcript_exon_variant,,ENST00000526574,;PPP6R3,upstream_gene_variant,,ENST00000525421,;PPP6R3,downstream_gene_variant,,ENST00000531432,; G ENSG00000110075 ENST00000393801 Transcript missense_variant 1324/5069 1109/2640 370/879 N/S aAt/aGt 1 1 PPP6R3 HGNC HGNC:1173 protein_coding YES CCDS53671.1 ENSP00000377390 Q5H9R7 UPI0000688150 NM_001164160.1,NM_001352370.1,NM_001352372.1,NM_001352364.1,NM_001352379.1 tolerated(0.14) benign(0.042) 10/25 Gene3D:1.25.10.10,Pfam_domain:PF04499,hmmpanther:PTHR12634,hmmpanther:PTHR12634:SF12,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS AAT . . 68567147 KLF13 . GRCh38 chr15 31327531 31327531 + Missense_Mutation SNP T T G novel 7316-2959 BS_R333SVK1 T T c.319T>G p.Ser107Ala p.S107A ENST00000307145 1/2 90 67 10 36 35 0 KLF13,missense_variant,p.Ser107Ala,ENST00000307145,NM_015995.3;KLF13,upstream_gene_variant,,ENST00000558921,;,regulatory_region_variant,,ENSR00000074488,; G ENSG00000169926 ENST00000307145 Transcript missense_variant 677/6825 319/867 107/288 S/A Tcc/Gcc 1 1 KLF13 HGNC HGNC:13672 protein_coding YES CCDS10025.1 ENSP00000302456 Q9Y2Y9 X5DNR2 UPI000012DEDC NM_015995.3 tolerated(0.83) benign(0) 1/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTC . . 31327531 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-2959 BS_R333SVK1 A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 114 97 11 35 34 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 PRSS53 . GRCh38 chr16 31086696 31086696 + Missense_Mutation SNP C C T rs769552498 7316-2959 BS_R333SVK1 C C c.445G>A p.Ala149Thr p.A149T ENST00000280606 4/11 118 70 47 42 41 0 PRSS53,missense_variant,p.Ala149Thr,ENST00000280606,NM_001039503.2;ZNF646,downstream_gene_variant,,ENST00000300850,NM_014699.3;VKORC1,downstream_gene_variant,,ENST00000300851,;VKORC1,downstream_gene_variant,,ENST00000319788,NM_001311311.1;VKORC1,downstream_gene_variant,,ENST00000354895,NM_206824.2;VKORC1,downstream_gene_variant,,ENST00000394971,;VKORC1,downstream_gene_variant,,ENST00000394975,NM_024006.5;ZNF646,downstream_gene_variant,,ENST00000394979,;VKORC1,downstream_gene_variant,,ENST00000420057,;VKORC1,downstream_gene_variant,,ENST00000472468,;VKORC1,downstream_gene_variant,,ENST00000498155,;AC135050.2,downstream_gene_variant,,ENST00000529564,;AC135050.2,downstream_gene_variant,,ENST00000532364,;AC135050.2,3_prime_UTR_variant,,ENST00000533518,;PRSS53,non_coding_transcript_exon_variant,,ENST00000486499,;PRSS53,non_coding_transcript_exon_variant,,ENST00000492427,; T ENSG00000151006 ENST00000280606 Transcript missense_variant 599/2181 445/1662 149/553 A/T Gcc/Acc rs769552498,COSM1377583 1 -1 PRSS53 HGNC HGNC:34407 protein_coding YES CCDS42153.1 ENSP00000280606 Q2L4Q9 UPI000059D375 NM_001039503.2 tolerated(0.75) benign(0.001) 4/11 cd00190,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24276,hmmpanther:PTHR24276:SF61 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 2.006e-05 7.531e-05 9.348e-05 31086696 FBXO39 . GRCh38 chr17 6779930 6779930 + Missense_Mutation SNP A A G novel 7316-2959 BS_R333SVK1 A A c.62A>G p.Asp21Gly p.D21G ENST00000321535 2/4 88 66 20 53 52 0 FBXO39,missense_variant,p.Asp21Gly,ENST00000321535,NM_153230.2;XAF1,downstream_gene_variant,,ENST00000361842,NM_017523.3,NM_001353135.1;PRAL,upstream_gene_variant,,ENST00000624952,; G ENSG00000177294 ENST00000321535 Transcript missense_variant 192/1677 62/1329 21/442 D/G gAt/gGt 1 1 FBXO39 HGNC HGNC:28565 protein_coding YES CCDS11082.1 ENSP00000321386 Q8N4B4 UPI000006D9B1 NM_153230.2 tolerated(0.05) probably_damaging(0.997) 2/4 Gene3D:1.20.1280.50,Pfam_domain:PF12937,hmmpanther:PTHR10706,hmmpanther:PTHR10706:SF130,Superfamily_domains:SSF81383 MODERATE 1 SNV 1 PASS GAT . . 6779930 NLGN2 . GRCh38 chr17 7408300 7408300 + Missense_Mutation SNP A A C novel 7316-2959 BS_R333SVK1 A A c.45A>C p.Gln15His p.Q15H ENST00000302926 1/7 144 124 14 47 45 0 NLGN2,missense_variant,p.Gln15His,ENST00000302926,NM_020795.3;NLGN2,missense_variant,p.Gln15His,ENST00000575301,;TMEM256,upstream_gene_variant,,ENST00000302422,NM_152766.3;NLGN2,upstream_gene_variant,,ENST00000570940,;TMEM256,upstream_gene_variant,,ENST00000576017,;NLGN2,intron_variant,,ENST00000572893,;TMEM256-PLSCR3,upstream_gene_variant,,ENST00000570569,;TMEM256-PLSCR3,upstream_gene_variant,,ENST00000570600,;TMEM256-PLSCR3,upstream_gene_variant,,ENST00000571125,;TMEM256-PLSCR3,upstream_gene_variant,,ENST00000573331,;TMEM256,upstream_gene_variant,,ENST00000575427,;,regulatory_region_variant,,ENSR00000090857,; C ENSG00000169992 ENST00000302926 Transcript missense_variant 118/4642 45/2508 15/835 Q/H caA/caC 1 1 NLGN2 HGNC HGNC:14290 protein_coding YES CCDS11103.1 ENSP00000305288 Q8NFZ4 UPI0000049FD2 NM_020795.3 tolerated_low_confidence(1) benign(0.029) 1/7 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 7408300 DUSP14 . GRCh38 chr17 37512775 37512775 + Missense_Mutation SNP A A C novel 7316-2959 BS_R333SVK1 A A c.503A>C p.Lys168Thr p.K168T ENST00000614411 2/2 76 62 11 48 47 1 DUSP14,missense_variant,p.Lys168Thr,ENST00000614411,;DUSP14,missense_variant,p.Lys168Thr,ENST00000613659,;DUSP14,missense_variant,p.Lys168Thr,ENST00000617516,NM_007026.3;SYNRG,downstream_gene_variant,,ENST00000612223,NM_007247.5;SYNRG,downstream_gene_variant,,ENST00000612641,; C ENSG00000276023 ENST00000614411 Transcript missense_variant 1481/2207 503/597 168/198 K/T aAg/aCg 1 1 DUSP14 HGNC HGNC:17007 protein_coding YES CCDS11320.1 ENSP00000477653 O95147 Q6FI36 UPI0000129965 tolerated(0.16) benign(0.209) 2/2 PDB-ENSP_mappings:2wgp.A,PDB-ENSP_mappings:2wgp.B,Gene3D:3.90.190.10,Superfamily_domains:SSF52799,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF338 MODERATE SNV 2 PASS AAG . . 37512775 TMEM200C . GRCh38 chr18 5891120 5891120 + Missense_Mutation SNP G G A novel 7316-2959 BS_R333SVK1 G G c.944C>T p.Pro315Leu p.P315L ENST00000581347 3/3 71 55 14 47 46 0 TMEM200C,missense_variant,p.Pro315Leu,ENST00000581347,;TMEM200C,missense_variant,p.Pro315Leu,ENST00000383490,NM_001080209.1;AP005433.1,intron_variant,,ENST00000577694,;AP005433.1,downstream_gene_variant,,ENST00000580845,;AP005433.1,downstream_gene_variant,,ENST00000582939,; A ENSG00000206432 ENST00000581347 Transcript missense_variant 1590/10638 944/1866 315/621 P/L cCc/cTc 1 -1 TMEM200C HGNC HGNC:37208 protein_coding YES CCDS45825.1 ENSP00000463375 A6NKL6 UPI000020198E deleterious(0.02) benign(0.24) 3/3 hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF2,mobidb-lite MODERATE SNV 5 PASS GGG . . 5891120 TXNDC2 . GRCh38 chr18 9887188 9887188 + Missense_Mutation SNP A A G rs1189639012 7316-2959 BS_R333SVK1 A A c.709A>G p.Ser237Gly p.S237G ENST00000306084 2/2 55 40 8 30 28 1 TXNDC2,missense_variant,p.Ser170Gly,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Ser237Gly,ENST00000611534,;TXNDC2,missense_variant,p.Ser237Gly,ENST00000306084,NM_001098529.1;TXNDC2,intron_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; G ENSG00000168454 ENST00000306084 Transcript missense_variant 908/1873 709/1662 237/553 S/G Agt/Ggt rs1189639012,COSM6281730,COSM6281729 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(0.94) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GAG . . 9887188 ZNF90 . GRCh38 chr19 20118786 20118786 + Missense_Mutation SNP C C A 7316-2959 BS_R333SVK1 C C c.1232C>A p.Thr411Lys p.T411K ENST00000418063 4/4 72 64 8 55 54 0 ZNF90,missense_variant,p.Thr411Lys,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; A ENSG00000213988 ENST00000418063 Transcript missense_variant 1344/2310 1232/1806 411/601 T/K aCa/aAa COSM5950317 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(0.46) benign(0.281) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS ACA . . 20118786 MEGF8 . GRCh38 chr19 42370822 42370822 + Missense_Mutation SNP A A C novel 7316-2959 BS_R333SVK1 A A c.7127A>C p.Lys2376Thr p.K2376T ENST00000251268 40/42 58 43 15 24 24 0 MEGF8,missense_variant,p.Glu14Asp,ENST00000378073,;MEGF8,missense_variant,p.Lys2309Thr,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Lys2376Thr,ENST00000251268,NM_001271938.1;MEGF8,missense_variant,p.Lys129Thr,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,non_coding_transcript_exon_variant,,ENST00000599787,;,regulatory_region_variant,,ENSR00000109804,;,TF_binding_site_variant,,PB0020.1,; C ENSG00000105429 ENST00000251268 Transcript missense_variant 7127/9549 7127/8538 2376/2845 K/T aAg/aCg 1 1 MEGF8 HGNC HGNC:3233 protein_coding YES CCDS62693.1 ENSP00000251268 Q7Z7M0 UPI00005788D1 NM_001271938.1 tolerated(0.13) possibly_damaging(0.782) 40/42 Gene3D:2.10.25.10,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287,SMART_domains:SM00180 MODERATE 1 SNV 5 1 PASS AAG . . 42370822 TPRX1 . GRCh38 chr19 47802463 47802463 + Missense_Mutation SNP T T A rs761558415 7316-2959 BS_R333SVK1 T T c.548A>T p.Asn183Ile p.N183I ENST00000322175 2/2 98 62 17 50 47 1 TPRX1,missense_variant,p.Asn280Ile,ENST00000535759,;TPRX1,missense_variant,p.Asn183Ile,ENST00000322175,NM_198479.2;TPRX1,missense_variant,p.Asn173Ile,ENST00000543508,; A ENSG00000178928 ENST00000322175 Transcript missense_variant 704/1924 548/1236 183/411 N/I aAc/aTc rs761558415,COSM998812,COSM6281637,COSM5037664 1 -1 TPRX1 HGNC HGNC:32174 protein_coding YES CCDS33066.1 ENSP00000323455 Q8N7U7 UPI0000198666 NM_198479.2 tolerated(0.27) benign(0) 2/2 hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF25,mobidb-lite,Low_complexity_(Seg):seg 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS GTT . . 0.0001861 0.0003404 0.0004432 0.0009994 0.0001075 0.0003367 47802463 RALGAPA2 . GRCh38 chr20 20571611 20571611 + Splice_Region SNP C C T rs771924231 7316-2959 BS_R333SVK1 C C c.3003G>A p.Ala1001= p.A1001= ENST00000202677 23/40 98 83 14 42 41 0 RALGAPA2,splice_region_variant,p.Ala818=,ENST00000430436,;RALGAPA2,splice_region_variant,p.Ala1001=,ENST00000202677,NM_020343.3; T ENSG00000188559 ENST00000202677 Transcript splice_region_variant,synonymous_variant 3011/6152 3003/5622 1001/1873 A gcG/gcA rs771924231 1 -1 RALGAPA2 HGNC HGNC:16207 protein_coding YES CCDS46584.1 ENSP00000202677 Q2PPJ7 UPI000040F987 NM_020343.3 23/40 Gene3D:1.25.10.10,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2,Superfamily_domains:SSF48371 LOW 1 SNV 5 PASS CCG . . 1.27e-05 2.809e-05 20571611 KRTAP10-6 . GRCh38 chr21 44592010 44592010 + Missense_Mutation SNP C C T rs233306 7316-2959 BS_R333SVK1 C C c.475G>A p.Val159Ile p.V159I ENST00000400368 1/1 67 53 10 44 43 0 KRTAP10-6,missense_variant,p.Val159Ile,ENST00000400368,NM_198688.3;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000622352,;TSPEAR,intron_variant,,ENST00000642437,; T ENSG00000188155 ENST00000400368 Transcript missense_variant 496/1238 475/1098 159/365 V/I Gtc/Atc rs233306,COSM4593424 1 -1 KRTAP10-6 HGNC HGNC:20523 protein_coding YES CCDS42959.1 ENSP00000383219 P60371 UPI000021C43D NM_198688.3 tolerated(0.15) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF142 0,1 MODERATE SNV 0,1 PASS ACG . . 0.01269 0.04918 0.005982 0.01381 0.03311 0.00438 0.01001 0.01413 0.008758 44592010 MT-ND2 . GRCh38 chrM 4838 4838 + Frame_Shift_Del DEL T T - novel 7316-2959 BS_R333SVK1 T T c.369del p.Leu124Ter p.L124* ENST00000361453 1/1 26313 23074 2032 3313 3286 2 MT-ND2,frameshift_variant,p.Leu124Ter,ENST00000361453,;MT-ND1,downstream_gene_variant,,ENST00000361390,;MT-CO1,upstream_gene_variant,,ENST00000361624,;MT-CO2,upstream_gene_variant,,ENST00000361739,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-CO3,upstream_gene_variant,,ENST00000362079,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-TF,downstream_gene_variant,,ENST00000387314,;MT-TV,downstream_gene_variant,,ENST00000387342,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,downstream_gene_variant,,ENST00000387365,;MT-TQ,upstream_gene_variant,,ENST00000387372,;MT-TM,downstream_gene_variant,,ENST00000387377,;MT-TW,upstream_gene_variant,,ENST00000387382,;MT-TA,downstream_gene_variant,,ENST00000387392,;MT-TN,downstream_gene_variant,,ENST00000387400,;MT-TC,downstream_gene_variant,,ENST00000387405,;MT-TY,downstream_gene_variant,,ENST00000387409,;MT-TS1,downstream_gene_variant,,ENST00000387416,;MT-TD,upstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-RNR1,downstream_gene_variant,,ENST00000389680,;,TF_binding_site_variant,,MA0341.1,;,TF_binding_site_variant,,MA0366.1,;,TF_binding_site_variant,,PB0020.1,; - ENSG00000198763 ENST00000361453 Transcript frameshift_variant 369/1042 369/1042 123/347 P/X ccT/cc 1 1 MT-ND2 HGNC HGNC:7456 protein_coding YES ENSP00000355046 P03891 Q7GXY9 UPI0000000AA2 1/1 PDB-ENSP_mappings:5xtc.i,PDB-ENSP_mappings:5xtd.i,Low_complexity_(Seg):seg,hmmpanther:PTHR22773,hmmpanther:PTHR22773:SF41,Pfam_domain:PF00361 HIGH 1 deletion 1 PASS CCTC . . 4837 MT-ND2 . GRCh38 chrM 4939 4939 + Missense_Mutation SNP T T C novel 7316-2959 BS_R333SVK1 T T c.470T>C p.Leu157Pro p.L157P ENST00000361453 1/1 28372 26456 1716 3613 3563 10 MT-ND2,missense_variant,p.Leu157Pro,ENST00000361453,;MT-ND1,downstream_gene_variant,,ENST00000361390,;MT-CO1,upstream_gene_variant,,ENST00000361624,;MT-CO2,upstream_gene_variant,,ENST00000361739,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-CO3,upstream_gene_variant,,ENST00000362079,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-TF,downstream_gene_variant,,ENST00000387314,;MT-TV,downstream_gene_variant,,ENST00000387342,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,downstream_gene_variant,,ENST00000387365,;MT-TQ,upstream_gene_variant,,ENST00000387372,;MT-TM,downstream_gene_variant,,ENST00000387377,;MT-TW,upstream_gene_variant,,ENST00000387382,;MT-TA,downstream_gene_variant,,ENST00000387392,;MT-TN,downstream_gene_variant,,ENST00000387400,;MT-TC,downstream_gene_variant,,ENST00000387405,;MT-TY,downstream_gene_variant,,ENST00000387409,;MT-TS1,downstream_gene_variant,,ENST00000387416,;MT-TD,upstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-RNR1,downstream_gene_variant,,ENST00000389680,; C ENSG00000198763 ENST00000361453 Transcript missense_variant 470/1042 470/1042 157/347 L/P cTc/cCc 1 1 MT-ND2 HGNC HGNC:7456 protein_coding YES ENSP00000355046 P03891 Q7GXY9 UPI0000000AA2 deleterious(0.03) probably_damaging(0.941) 1/1 PDB-ENSP_mappings:5xtc.i,PDB-ENSP_mappings:5xtd.i,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22773,hmmpanther:PTHR22773:SF41,Pfam_domain:PF00361 MODERATE 1 SNV 1 PASS CTC . . 4939 HES4 . GRCh38 chr1 999123 999123 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.680T>G p.Leu227Arg p.L227R ENST00000428771 3/3 42 32 10 37 37 0 HES4,missense_variant,p.Leu227Arg,ENST00000428771,NM_001142467.1;HES4,missense_variant,p.Leu201Arg,ENST00000304952,NM_021170.3;HES4,missense_variant,p.Leu169Arg,ENST00000484667,;ISG15,upstream_gene_variant,,ENST00000624652,;ISG15,upstream_gene_variant,,ENST00000624697,;AL645608.8,upstream_gene_variant,,ENST00000606034,;HES4,non_coding_transcript_exon_variant,,ENST00000481869,;,regulatory_region_variant,,ENSR00000249807,; C ENSG00000188290 ENST00000428771 Transcript missense_variant 879/1040 680/744 227/247 L/R cTg/cGg 1 -1 HES4 HGNC HGNC:24149 protein_coding YES CCDS44034.1 ENSP00000393198 E9PB28 UPI0001881B51 NM_001142467.1 tolerated(0.37) benign(0) 3/3 hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF125,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CAG . . 999123 COL8A2 . GRCh38 chr1 36099239 36099239 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.442A>C p.Ile148Leu p.I148L ENST00000397799 4/4 47 36 9 37 37 0 COL8A2,missense_variant,p.Ile148Leu,ENST00000397799,NM_005202.3;COL8A2,missense_variant,p.Ile148Leu,ENST00000303143,;COL8A2,missense_variant,p.Ile83Leu,ENST00000481785,NM_001294347.1;,regulatory_region_variant,,ENSR00000004740,; G ENSG00000171812 ENST00000397799 Transcript missense_variant 667/4670 442/2112 148/703 I/L Ata/Cta 1 -1 COL8A2 HGNC HGNC:2216 protein_coding YES CCDS403.1 ENSP00000380901 P25067 UPI00001B2F2D NM_005202.3 tolerated(0.86) benign(0) 4/4 mobidb-lite,hmmpanther:PTHR44057,hmmpanther:PTHR44057:SF3,Pfam_domain:PF01391 MODERATE 1 SNV 5 1 PASS ATT . . 36099239 KLF18 . GRCh38 chr1 44140779 44140779 + Missense_Mutation SNP T T C rs1342991271 7316-1784 BS_Q5ABAC4M T T c.853A>G p.Ser285Gly p.S285G ENST00000634670 1/2 48 32 5 42 37 1 KLF18,missense_variant,p.Ser285Gly,ENST00000634670,NM_001358438.1; C ENSG00000283039 ENST00000634670 Transcript missense_variant 853/3159 853/3159 285/1052 S/G Agt/Ggt rs1342991271 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(1) benign(0) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE 1 SNV 5 PASS CTA . . 44140779 FLG2 . GRCh38 chr1 152351638 152351638 + Missense_Mutation SNP C C A novel 7316-1784 BS_Q5ABAC4M C C c.6148G>T p.Ala2050Ser p.A2050S ENST00000388718 3/3 91 68 10 36 36 0 FLG2,missense_variant,p.Ala2050Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 6221/9124 6148/7176 2050/2391 A/S Gct/Tct 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.67) benign(0.045) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487 MODERATE SNV 5 1 PASS GCG . . 152351638 FLG2 . GRCh38 chr1 152352111 152352111 + Missense_Mutation SNP C C A rs1292844325 7316-1784 BS_Q5ABAC4M C C c.5675G>T p.Gly1892Val p.G1892V ENST00000388718 3/3 100 82 15 44 40 0 FLG2,missense_variant,p.Gly1892Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 5748/9124 5675/7176 1892/2391 G/V gGc/gTc rs1292844325,COSM6264550 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCC . . 152352111 MUC1 . GRCh38 chr1 155191968 155191968 + Missense_Mutation SNP T T C rs1335433500 7316-1784 BS_Q5ABAC4M T T c.401A>G p.Lys134Arg p.K134R ENST00000612778 2/8 96 67 9 30 27 0 MUC1,missense_variant,p.Lys125Arg,ENST00000611571,;MUC1,missense_variant,p.Lys134Arg,ENST00000612778,NM_001204286.1;MUC1,missense_variant,p.Lys125Arg,ENST00000620103,NM_001204285.1;MUC1,intron_variant,,ENST00000337604,NM_001204287.1,NM_002456.5;MUC1,intron_variant,,ENST00000338684,NM_001204291.1,NM_001204289.1;MUC1,intron_variant,,ENST00000342482,;MUC1,intron_variant,,ENST00000343256,NM_001204296.1,NM_001044390.2;MUC1,intron_variant,,ENST00000368389,NM_001204297.1;MUC1,intron_variant,,ENST00000368390,NM_001018017.2;MUC1,intron_variant,,ENST00000368392,NM_001204288.1,NM_001018016.2;MUC1,intron_variant,,ENST00000368393,NM_001204293.1;MUC1,intron_variant,,ENST00000368396,NM_001044391.2,NM_001044392.2;MUC1,intron_variant,,ENST00000368398,NM_001204294.1;MUC1,intron_variant,,ENST00000438413,NM_001204290.1;MUC1,intron_variant,,ENST00000457295,;MUC1,intron_variant,,ENST00000462215,;MUC1,intron_variant,,ENST00000471283,NM_001044393.2;MUC1,intron_variant,,ENST00000610359,NM_001204292.1;MUC1,intron_variant,,ENST00000611577,;MUC1,intron_variant,,ENST00000614519,;MUC1,intron_variant,,ENST00000615517,NM_001204295.1;THBS3,downstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,downstream_gene_variant,,ENST00000457183,NM_001252608.1;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000485118,;THBS3,downstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,downstream_gene_variant,,ENST00000541990,;MIR92B,upstream_gene_variant,,ENST00000607575,;AC234582.1,upstream_gene_variant,,ENST00000447623,;MUC1,downstream_gene_variant,,ENST00000466913,;MUC1,non_coding_transcript_exon_variant,,ENST00000620770,;MUC1,intron_variant,,ENST00000467134,;MUC1,intron_variant,,ENST00000498431,;MUC1,intron_variant,,ENST00000610468,;MUC1,upstream_gene_variant,,ENST00000468978,;THBS3,downstream_gene_variant,,ENST00000469769,;AL713999.1,upstream_gene_variant,,ENST00000473363,;THBS3,downstream_gene_variant,,ENST00000498500,;,regulatory_region_variant,,ENSR00000014040,; C ENSG00000185499 ENST00000612778 Transcript missense_variant 473/1836 401/1455 134/484 K/R aAg/aGg rs1335433500 1 -1 MUC1 HGNC HGNC:7508 protein_coding YES CCDS72933.1 ENSP00000484824 A0A087X2A4 UPI000059C524 NM_001204286.1 tolerated(0.41) benign(0) 2/8 hmmpanther:PTHR10006,mobidb-lite MODERATE SNV 5 1 PASS CTT . . 8.025e-05 8.01e-05 8.429e-05 4.957e-05 0.0002636 0.0002285 155191968 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 79 64 14 44 43 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 NES . GRCh38 chr1 156669819 156669819 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.4369T>G p.Phe1457Val p.F1457V ENST00000368223 4/4 91 81 6 34 34 0 NES,missense_variant,p.Phe1457Val,ENST00000368223,NM_006617.1;,regulatory_region_variant,,ENSR00000014235,; C ENSG00000132688 ENST00000368223 Transcript missense_variant 4502/5558 4369/4866 1457/1621 F/V Ttc/Gtc 1 -1 NES HGNC HGNC:7756 protein_coding YES CCDS1151.1 ENSP00000357206 P48681 UPI0000213DC0 NM_006617.1 tolerated(0.08) benign(0.026) 4/4 mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 156669819 UHMK1 . GRCh38 chr1 162498043 162498043 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.43T>G p.Phe15Val p.F15V ENST00000489294 1/8 126 112 9 32 32 0 UHMK1,missense_variant,p.Phe15Val,ENST00000489294,NM_175866.4;UHMK1,missense_variant,p.Phe15Val,ENST00000538489,NM_144624.2;UHMK1,intron_variant,,ENST00000545294,NM_001184763.1;UHMK1,upstream_gene_variant,,ENST00000282169,;,regulatory_region_variant,,ENSR00000014850,; G ENSG00000152332 ENST00000489294 Transcript missense_variant 201/8478 43/1260 15/419 F/V Ttt/Gtt 1 1 UHMK1 HGNC HGNC:19683 protein_coding YES CCDS1239.1 ENSP00000420270 Q8TAS1 UPI000000DCCA NM_175866.4 tolerated_low_confidence(0.09) possibly_damaging(0.587) 1/8 hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF14,Gene3D:3.30.200.20 MODERATE 1 SNV 1 PASS TTT . . 162498043 NR5A2 . GRCh38 chr1 200048167 200048167 + Splice_Region SNP A A C rs1489721916 7316-1784 BS_Q5ABAC4M A A c.464-5A>C ENST00000367362 81 62 13 35 33 1 NR5A2,splice_region_variant,,ENST00000236914,NM_003822.4;NR5A2,splice_region_variant,,ENST00000367357,;NR5A2,splice_region_variant,,ENST00000367362,NM_205860.2;NR5A2,splice_region_variant,,ENST00000544748,NM_001276464.1;NR5A2,downstream_gene_variant,,ENST00000474307,;,regulatory_region_variant,,ENSR00000017893,; C ENSG00000116833 ENST00000367362 Transcript splice_region_variant,intron_variant rs1489721916 1 1 NR5A2 HGNC HGNC:7984 protein_coding YES CCDS1401.1 ENSP00000356331 O00482 UPI0000130482 NM_205860.2 4/7 LOW 1 SNV 1 PASS CAA . . 4.294e-06 3.256e-05 200048167 IGFN1 . GRCh38 chr1 201211639 201211639 + Missense_Mutation SNP A A G rs1178151383 7316-1784 BS_Q5ABAC4M A A c.6746A>G p.Asp2249Gly p.D2249G ENST00000335211 12/24 99 80 8 49 48 0 IGFN1,missense_variant,p.Asp2249Gly,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6876/11810 6746/11127 2249/3708 D/G gAt/gGt rs1178151383,COSM4764345 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(1) benign(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS GAT . . 2.198e-05 0.0001227 0.0001001 1.795e-05 201211639 CDK18 . GRCh38 chr1 205523620 205523620 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.268A>C p.Met90Leu p.M90L ENST00000506784 3/16 100 83 11 30 30 0 CDK18,start_lost,p.Met1?,ENST00000478560,;CDK18,start_lost,p.Met1?,ENST00000506215,;CDK18,missense_variant,p.Met90Leu,ENST00000360066,NM_212502.2,NM_002596.3;CDK18,missense_variant,p.Met90Leu,ENST00000506784,NM_212503.2;CDK18,missense_variant,p.Met90Leu,ENST00000429964,;CDK18,missense_variant,p.Met90Leu,ENST00000419301,;CDK18,missense_variant,p.Met69Leu,ENST00000443813,;CDK18,non_coding_transcript_exon_variant,,ENST00000505932,;CDK18,non_coding_transcript_exon_variant,,ENST00000507067,;CDK18,upstream_gene_variant,,ENST00000468954,;CDK18,upstream_gene_variant,,ENST00000506489,;CDK18,downstream_gene_variant,,ENST00000507240,;CDK18,3_prime_UTR_variant,,ENST00000515494,;CDK18,3_prime_UTR_variant,,ENST00000504648,;CDK18,3_prime_UTR_variant,,ENST00000512922,;CDK18,3_prime_UTR_variant,,ENST00000462976,;CDK18,non_coding_transcript_exon_variant,,ENST00000476153,;CDK18,upstream_gene_variant,,ENST00000489617,;CDK18,upstream_gene_variant,,ENST00000504162,; C ENSG00000117266 ENST00000506784 Transcript missense_variant 488/2143 268/1515 90/504 M/L Atg/Ctg 1 1 CDK18 HGNC HGNC:8751 protein_coding YES CCDS1454.1 ENSP00000423665 Q07002 A0A024R980 UPI000035030C NM_212503.2 tolerated_low_confidence(0.15) benign(0.055) 3/16 hmmpanther:PTHR24056:SF52,hmmpanther:PTHR24056,Gene3D:3.30.200.20 MODERATE 1 SNV 1 PASS CAT . . 205523620 ITPKB . GRCh38 chr1 226737210 226737210 + Missense_Mutation SNP A A C rs1302937752 7316-1784 BS_Q5ABAC4M A A c.249T>G p.Asn83Lys p.N83K ENST00000429204 2/8 70 56 12 36 36 0 ITPKB,missense_variant,p.Asn83Lys,ENST00000429204,NM_002221.3;ITPKB,missense_variant,p.Asn83Lys,ENST00000272117,;ITPKB,missense_variant,p.Asn83Lys,ENST00000366784,;,regulatory_region_variant,,ENSR00000021143,; C ENSG00000143772 ENST00000429204 Transcript missense_variant 589/6162 249/2841 83/946 N/K aaT/aaG rs1302937752 1 -1 ITPKB HGNC HGNC:6179 protein_coding YES CCDS1555.1 ENSP00000411152 P27987 UPI000013D92B NM_002221.3 deleterious_low_confidence(0.03) benign(0.003) 2/8 hmmpanther:PTHR12400,hmmpanther:PTHR12400:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TAT . . 226737210 RNF187 . GRCh38 chr1 228487551 228487551 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.63A>C p.Glu21Asp p.E21D ENST00000305943 1/4 80 65 11 37 36 1 RNF187,missense_variant,p.Glu21Asp,ENST00000305943,NM_001010858.2;RNF187,missense_variant,p.Glu21Asp,ENST00000639044,;RNF187,upstream_gene_variant,,ENST00000482739,;AL139288.1,upstream_gene_variant,,ENST00000623748,;,regulatory_region_variant,,ENSR00000021317,; C ENSG00000168159 ENST00000305943 Transcript missense_variant 491/3017 63/708 21/235 E/D gaA/gaC 1 1 RNF187 HGNC HGNC:27146 protein_coding YES CCDS76271.1 ENSP00000306396 A0A1X7SBW3 UPI0004E527EC NM_001010858.2 tolerated(1) benign(0) 1/4 PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF558,Pfam_domain:PF00097,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850 MODERATE 1 SNV 1 PASS AAC . . 228487551 C1orf198 . GRCh38 chr1 230868202 230868202 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.311A>C p.Lys104Thr p.K104T ENST00000366663 1/4 72 45 11 38 35 0 C1orf198,missense_variant,p.Lys104Thr,ENST00000366663,NM_032800.2;C1orf198,missense_variant,p.Lys66Thr,ENST00000470540,NM_001136494.1;C1orf198,missense_variant,p.Lys61Thr,ENST00000522201,;C1orf198,intron_variant,,ENST00000427697,;C1orf198,downstream_gene_variant,,ENST00000521263,;,regulatory_region_variant,,ENSR00000021652,; G ENSG00000119280 ENST00000366663 Transcript missense_variant 452/3858 311/984 104/327 K/T aAg/aCg 1 -1 C1orf198 HGNC HGNC:25900 protein_coding YES CCDS1587.1 ENSP00000355623 Q9H425 A0A024R3S1 UPI000006F49A NM_032800.2 deleterious(0.01) possibly_damaging(0.865) 1/4 Pfam_domain:PF15797,hmmpanther:PTHR34394,mobidb-lite MODERATE 1 SNV 1 PASS CTT . . 230868202 EGLN1 . GRCh38 chr1 231421667 231421667 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.222T>G p.His74Gln p.H74Q ENST00000366641 1/5 63 44 10 23 23 0 EGLN1,missense_variant,p.His74Gln,ENST00000366641,NM_022051.2;EGLN1,upstream_gene_variant,,ENST00000476717,;,regulatory_region_variant,,ENSR00000021720,; C ENSG00000135766 ENST00000366641 Transcript missense_variant 3378/7097 222/1281 74/426 H/Q caT/caG 1 -1 EGLN1 HGNC HGNC:1232 protein_coding YES CCDS1595.1 ENSP00000355601 Q9GZT9 R4SCQ0 UPI0000050C90 NM_022051.2 tolerated(0.71) benign(0) 1/5 mobidb-lite,hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF4,Gene3D:3.90.1410.10 MODERATE 1 SNV 1 1 PASS AAT . . 231421667 IRF2BP2 . GRCh38 chr1 234608840 234608840 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.655A>C p.Thr219Pro p.T219P ENST00000366609 1/2 90 62 17 38 38 0 IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366609,NM_182972.2;IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366610,NM_001077397.1;AL160408.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;,regulatory_region_variant,,ENSR00000257385,; G ENSG00000168264 ENST00000366609 Transcript missense_variant 686/4663 655/1764 219/587 T/P Acc/Ccc 1 -1 IRF2BP2 HGNC HGNC:21729 protein_coding YES CCDS1602.1 ENSP00000355568 Q7Z5L9 UPI000004FA32 NM_182972.2 tolerated(0.33) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18 MODERATE 1 SNV 1 1 PASS GTT . . 234608840 OR2T12 . GRCh38 chr1 248295374 248295374 + Missense_Mutation SNP T C C rs6678138 7316-1784 BS_Q5ABAC4M T T c.205A>G p.Met69Val p.M69V ENST00000641276 3/3 79 22 56 34 28 6 OR2T12,missense_variant,p.Met69Val,ENST00000641276,;OR2T12,missense_variant,p.Met69Val,ENST00000317996,NM_001004692.1;,regulatory_region_variant,,ENSR00000257755,; C ENSG00000177201 ENST00000641276 Transcript missense_variant 473/5708 205/963 69/320 M/V Atg/Gtg rs6678138,COSM1600062 1 -1 OR2T12 HGNC HGNC:19592 protein_coding YES CCDS31110.1 ENSP00000493000 Q8NG77 UPI000004B235 tolerated(0.23) benign(0) 3/3 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15421,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 0,1 PASS ATG . . 0.409 0.6652 0.4132 0.2421 0.5383 0.4232 0.344 0.4288 0.4367 248295374 AGBL5 . GRCh38 chr2 27070179 27070179 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.2577T>G p.Asn859Lys p.N859K ENST00000360131 15/15 60 54 6 42 42 0 AGBL5,missense_variant,p.Asn859Lys,ENST00000360131,NM_021831.5;OST4,downstream_gene_variant,,ENST00000429985,;AGBL5,downstream_gene_variant,,ENST00000441931,;OST4,downstream_gene_variant,,ENST00000447619,;OST4,downstream_gene_variant,,ENST00000456793,NM_001134693.1;AGBL5,3_prime_UTR_variant,,ENST00000487078,; G ENSG00000084693 ENST00000360131 Transcript missense_variant 2736/3177 2577/2661 859/886 N/K aaT/aaG 1 1 AGBL5 HGNC HGNC:26147 protein_coding YES CCDS1732.3 ENSP00000353249 Q8NDL9 UPI000006FE54 NM_021831.5 deleterious_low_confidence(0.05) benign(0.007) 15/15 MODERATE 1 SNV 1 1 PASS ATT . . 27070179 C2orf16 . GRCh38 chr2 27582001 27582001 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.5429T>G p.Leu1810Trp p.L1810W ENST00000408964 1/1 57 39 10 35 33 1 C2orf16,missense_variant,p.Leu5214Trp,ENST00000447166,;C2orf16,missense_variant,p.Leu1810Trp,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; G ENSG00000221843 ENST00000408964 Transcript missense_variant 5480/6200 5429/5955 1810/1984 L/W tTg/tGg 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(0.07) benign(0.22) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS TTG . . 27582001 ZFP36L2 . GRCh38 chr2 43224886 43224886 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.918T>G p.Cys306Trp p.C306W ENST00000282388 2/2 62 45 12 39 39 0 ZFP36L2,missense_variant,p.Cys306Trp,ENST00000282388,NM_006887.4;LINC01126,upstream_gene_variant,,ENST00000623515,;AC010883.1,upstream_gene_variant,,ENST00000423354,;,regulatory_region_variant,,ENSR00000116141,; C ENSG00000152518 ENST00000282388 Transcript missense_variant 1212/3696 918/1485 306/494 C/W tgT/tgG 1 -1 ZFP36L2 HGNC HGNC:1108 protein_coding YES CCDS1811.1 ENSP00000282388 P47974 UPI000013DCDA NM_006887.4 deleterious(0.02) possibly_damaging(0.712) 2/2 hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF100,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 43224886 SIX3 . GRCh38 chr2 44942259 44942259 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.155A>C p.Asn52Thr p.N52T ENST00000260653 1/2 56 43 13 45 42 1 SIX3,missense_variant,p.Asn52Thr,ENST00000260653,NM_005413.3;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;LINC01833,upstream_gene_variant,,ENST00000437916,;LINC01833,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;RF02250,downstream_gene_variant,,ENST00000611000,;RF02251,downstream_gene_variant,,ENST00000620790,;RF02252,downstream_gene_variant,,ENST00000621512,;,regulatory_region_variant,,ENSR00000116339,; C ENSG00000138083 ENST00000260653 Transcript missense_variant 362/2523 155/999 52/332 N/T aAc/aCc 1 1 SIX3 HGNC HGNC:10889 protein_coding YES CCDS1821.1 ENSP00000260653 O95343 UPI00001359C4 NM_005413.3 tolerated_low_confidence(0.63) benign(0) 1/2 hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 44942259 RTN4 . GRCh38 chr2 55050002 55050002 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.299T>G p.Val100Gly p.V100G ENST00000337526 1/9 56 45 8 40 38 1 RTN4,missense_variant,p.Val100Gly,ENST00000337526,NM_020532.4;RTN4,missense_variant,p.Val100Gly,ENST00000357732,NM_207520.1;RTN4,missense_variant,p.Val100Gly,ENST00000317610,NM_153828.2;RTN4,missense_variant,p.Val72Gly,ENST00000402434,;RTN4,intron_variant,,ENST00000394611,NM_001321860.1;RTN4,intron_variant,,ENST00000404909,NM_001321859.1;RTN4,intron_variant,,ENST00000427710,;RTN4,upstream_gene_variant,,ENST00000357376,NM_207521.1;RTN4,upstream_gene_variant,,ENST00000405240,NM_001321904.1,NM_001321862.1,NM_001321861.1,NM_001321863.1;RTN4,upstream_gene_variant,,ENST00000438462,;,regulatory_region_variant,,ENSR00000117303,; C ENSG00000115310 ENST00000337526 Transcript missense_variant 543/4790 299/3579 100/1192 V/G gTc/gGc 1 -1 RTN4 HGNC HGNC:14085 protein_coding YES CCDS42684.1 ENSP00000337838 Q9NQC3 UPI000000D81D NM_020532.4 deleterious_low_confidence(0) benign(0.003) 1/9 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAC . . 55050002 SH3RF3 . GRCh38 chr2 109129982 109129982 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.442A>C p.Thr148Pro p.T148P ENST00000309415 1/10 60 45 9 42 41 0 SH3RF3,missense_variant,p.Thr148Pro,ENST00000309415,NM_001099289.2;SH3RF3-AS1,upstream_gene_variant,,ENST00000567491,;,regulatory_region_variant,,ENSR00000121445,; C ENSG00000172985 ENST00000309415 Transcript missense_variant 635/5803 442/2649 148/882 T/P Acg/Ccg 1 1 SH3RF3 HGNC HGNC:24699 protein_coding YES CCDS74557.1 ENSP00000309186 Q8TEJ3 UPI0000DD7AEA NM_001099289.2 tolerated(0.09) benign(0.001) 1/10 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:3.30.40.10,hmmpanther:PTHR44208,hmmpanther:PTHR44208:SF3 MODERATE 1 SNV 5 PASS CAC . . 109129982 EN1 . GRCh38 chr2 118846586 118846586 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.582A>C p.Lys194Asn p.K194N ENST00000295206 1/2 46 33 11 33 32 0 EN1,missense_variant,p.Lys194Asn,ENST00000295206,NM_001426.3;EN1,upstream_gene_variant,,ENST00000546667,; G ENSG00000163064 ENST00000295206 Transcript missense_variant 1093/2457 582/1179 194/392 K/N aaA/aaC 1 -1 EN1 HGNC HGNC:3342 protein_coding YES CCDS2123.1 ENSP00000295206 Q05925 UPI000013E21D NM_001426.3 tolerated(0.13) benign(0.264) 1/2 Gene3D:1.10.10.60,hmmpanther:PTHR24341,hmmpanther:PTHR24341:SF4,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CTT . . 118846586 HOXD9 . GRCh38 chr2 176123144 176123144 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.376T>G p.Phe126Val p.F126V ENST00000249499 1/2 54 40 12 45 43 1 HOXD9,missense_variant,p.Phe126Val,ENST00000249499,NM_014213.3;HOXD10,downstream_gene_variant,,ENST00000249501,NM_002148.3;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD10,downstream_gene_variant,,ENST00000490088,;HOXD10,downstream_gene_variant,,ENST00000549469,;,regulatory_region_variant,,ENSR00000126745,; G ENSG00000128709 ENST00000249499 Transcript missense_variant 425/1870 376/1059 126/352 F/V Ttc/Gtc 1 1 HOXD9 HGNC HGNC:5140 protein_coding YES CCDS2267.2 ENSP00000249499 P28356 UPI000004A10E NM_014213.3 deleterious(0.05) benign(0.103) 1/2 Low_complexity_(Seg):seg,mobidb-lite,Pfam_domain:PF04617,hmmpanther:PTHR24326:SF113,hmmpanther:PTHR24326 MODERATE 1 SNV 1 PASS CTT . . 176123144 THAP4 . GRCh38 chr2 241636983 241636983 + Missense_Mutation SNP T T G 7316-1784 BS_Q5ABAC4M T T c.35A>C p.Asn12Thr p.N12T ENST00000407315 1/6 38 25 5 33 32 1 THAP4,missense_variant,p.Asn12Thr,ENST00000407315,NM_015963.5;ATG4B,upstream_gene_variant,,ENST00000400771,;ATG4B,upstream_gene_variant,,ENST00000402096,;ATG4B,upstream_gene_variant,,ENST00000404914,NM_013325.4;ATG4B,upstream_gene_variant,,ENST00000405546,NM_178326.2;ATG4B,upstream_gene_variant,,ENST00000419606,;ATG4B,upstream_gene_variant,,ENST00000425239,;ATG4B,upstream_gene_variant,,ENST00000430617,;THAP4,upstream_gene_variant,,ENST00000612200,;ATG4B,upstream_gene_variant,,ENST00000625810,;ATG4B,upstream_gene_variant,,ENST00000491867,;ATG4B,upstream_gene_variant,,ENST00000400772,;ATG4B,upstream_gene_variant,,ENST00000415107,;ATG4B,upstream_gene_variant,,ENST00000465399,;ATG4B,upstream_gene_variant,,ENST00000468018,;ATG4B,upstream_gene_variant,,ENST00000475195,;ATG4B,upstream_gene_variant,,ENST00000479554,;ATG4B,upstream_gene_variant,,ENST00000482507,;ATG4B,upstream_gene_variant,,ENST00000483778,;ATG4B,upstream_gene_variant,,ENST00000493618,;ATG4B,upstream_gene_variant,,ENST00000494465,;,regulatory_region_variant,,ENSR00000133303,; G ENSG00000176946 ENST00000407315 Transcript missense_variant 467/2367 35/1734 12/577 N/T aAc/aCc COSM3407761 1 -1 THAP4 HGNC HGNC:23187 protein_coding YES CCDS2551.1 ENSP00000385006 Q8WY91 UPI000018DBC4 NM_015963.5 deleterious_low_confidence(0) possibly_damaging(0.668) 1/6 PROSITE_profiles:PS50950,Pfam_domain:PF05485,SMART_domains:SM00980,Superfamily_domains:SSF57716 1 MODERATE 1 SNV 1 1 PASS GTT . . 241636983 GAL3ST2 . GRCh38 chr2 241803771 241803771 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.802A>C p.Thr268Pro p.T268P ENST00000192314 4/4 41 31 8 35 33 2 GAL3ST2,missense_variant,p.Thr268Pro,ENST00000192314,NM_022134.2;AC131097.3,downstream_gene_variant,,ENST00000413820,;AC131097.1,upstream_gene_variant,,ENST00000437438,;,regulatory_region_variant,,ENSR00000133335,; C ENSG00000154252 ENST00000192314 Transcript missense_variant 933/1370 802/1197 268/398 T/P Acc/Ccc 1 1 GAL3ST2 HGNC HGNC:24869 protein_coding YES CCDS33427.1 ENSP00000192314 Q9H3Q3 UPI000049DF44 NM_022134.2 tolerated(0.09) possibly_damaging(0.828) 4/4 hmmpanther:PTHR14647:SF55,hmmpanther:PTHR14647,Gene3D:3.40.50.300,Pfam_domain:PF06990 MODERATE 1 SNV 1 PASS GAC . . 241803771 HYAL3 . GRCh38 chr3 50295476 50295476 + Missense_Mutation SNP C C T rs1321607025 7316-1784 BS_Q5ABAC4M C C c.127G>A p.Glu43Lys p.E43K ENST00000336307 2/4 76 67 7 30 30 0 HYAL3,missense_variant,p.Glu43Lys,ENST00000336307,NM_003549.3;HYAL3,missense_variant,p.Glu43Lys,ENST00000621157,NM_001200029.1;HYAL3,missense_variant,p.Glu43Lys,ENST00000359051,;HYAL3,missense_variant,p.Glu43Lys,ENST00000450982,NM_001200030.1;HYAL3,missense_variant,p.Glu43Lys,ENST00000435141,;HYAL3,intron_variant,,ENST00000415204,NM_001200031.1;HYAL3,intron_variant,,ENST00000513170,NM_001200032.1;HYAL1,downstream_gene_variant,,ENST00000266031,;HYAL1,downstream_gene_variant,,ENST00000320295,NM_153281.1;NAA80,downstream_gene_variant,,ENST00000354862,NM_012191.3;HYAL1,downstream_gene_variant,,ENST00000395143,NM_153282.2;HYAL1,downstream_gene_variant,,ENST00000395144,NM_033159.3;NAA80,downstream_gene_variant,,ENST00000417393,NM_001200018.1;IFRD2,upstream_gene_variant,,ENST00000417626,NM_006764.4;IFRD2,upstream_gene_variant,,ENST00000436390,;NAA80,downstream_gene_variant,,ENST00000442620,;NAA80,downstream_gene_variant,,ENST00000443094,NM_001200016.1;NAA80,downstream_gene_variant,,ENST00000443842,;NAA80,downstream_gene_variant,,ENST00000450489,;NAA80,downstream_gene_variant,,ENST00000452674,;HYAL1,downstream_gene_variant,,ENST00000618175,;IFRD2,upstream_gene_variant,,ENST00000468737,;IFRD2,upstream_gene_variant,,ENST00000484043,;IFRD2,upstream_gene_variant,,ENST00000414734,;IFRD2,upstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000474556,;IFRD2,upstream_gene_variant,,ENST00000489569,; T ENSG00000186792 ENST00000336307 Transcript missense_variant 400/1942 127/1254 43/417 E/K Gag/Aag rs1321607025,COSM6213567 1 -1 HYAL3 HGNC HGNC:5322 protein_coding YES CCDS2815.1 ENSP00000337425 O43820 A0A024R2Y7 UPI000006E0AC NM_003549.3 tolerated(1) benign(0) 2/4 Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,PIRSF_domain:PIRSF500776,Prints_domain:PR00846,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF19,Superfamily_domains:SSF51445 0,1 MODERATE 1 SNV 1 0,1 PASS TCA . . 50295476 H1FX . GRCh38 chr3 129315854 129315854 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.49A>C p.Met17Leu p.M17L ENST00000333762 1/1 48 35 11 33 33 0 H1FX,missense_variant,p.Met17Leu,ENST00000333762,NM_006026.3;H1FX-AS1,non_coding_transcript_exon_variant,,ENST00000511998,;H1FX-AS1,intron_variant,,ENST00000433902,;H1FX-AS1,upstream_gene_variant,,ENST00000383461,;H1FX-AS1,upstream_gene_variant,,ENST00000502789,;,regulatory_region_variant,,ENSR00000158211,; G ENSG00000184897 ENST00000333762 Transcript missense_variant 424/1507 49/642 17/213 M/L Atg/Ctg 1 -1 H1FX HGNC HGNC:4722 protein_coding YES CCDS3057.1 ENSP00000329662 Q92522 UPI000012BF2F NM_006026.3 tolerated(0.14) benign(0) 1/1 hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF21 MODERATE SNV PASS ATT . . 129315854 PLXND1 . GRCh38 chr3 129606573 129606573 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.67T>G p.Phe23Val p.F23V ENST00000324093 1/36 38 28 8 28 27 0 PLXND1,missense_variant,p.Phe23Val,ENST00000324093,NM_015103.2;,regulatory_region_variant,,ENSR00000158262,; C ENSG00000004399 ENST00000324093 Transcript missense_variant 246/7094 67/5778 23/1925 F/V Ttc/Gtc 1 -1 PLXND1 HGNC HGNC:9107 protein_coding YES CCDS33854.1 ENSP00000317128 Q9Y4D7 UPI00003671AD NM_015103.2 tolerated_low_confidence(0.71) benign(0) 1/36 Cleavage_site_(Signalp):SignalP-noTM,mobidb-lite MODERATE 1 SNV 1 1 PASS AAC . . 129606573 CCDC50 . GRCh38 chr3 191375553 191375553 + Missense_Mutation SNP T T A novel 7316-1784 BS_Q5ABAC4M T T c.940T>A p.Ser314Thr p.S314T ENST00000392455 6/12 55 31 23 43 42 0 CCDC50,missense_variant,p.Ser314Thr,ENST00000392455,NM_178335.2;CCDC50,intron_variant,,ENST00000392456,NM_174908.3; A ENSG00000152492 ENST00000392455 Transcript missense_variant 1538/8957 940/1449 314/482 S/T Tca/Aca 1 1 CCDC50 HGNC HGNC:18111 protein_coding YES CCDS33912.1 ENSP00000376249 Q8IVM0 UPI000018F5EF NM_178335.2 tolerated(0.24) benign(0.423) 6/12 hmmpanther:PTHR22115,hmmpanther:PTHR22115:SF1,mobidb-lite MODERATE 1 SNV 1 1 PASS CTC . . 191375553 TMEM175 . GRCh38 chr4 955442 955442 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.665A>C p.Tyr222Ser p.Y222S ENST00000264771 9/11 59 48 10 38 38 0 TMEM175,missense_variant,p.Tyr106Ser,ENST00000622959,NM_001297427.1,NM_001297426.1;TMEM175,missense_variant,p.Tyr222Ser,ENST00000264771,NM_032326.3;TMEM175,missense_variant,p.Tyr106Ser,ENST00000515740,NM_001297428.1;TMEM175,missense_variant,p.Tyr140Ser,ENST00000508204,NM_001297423.1,NM_001297424.1,NM_001297425.1;TMEM175,missense_variant,p.Tyr140Ser,ENST00000510493,;TMEM175,missense_variant,p.Tyr140Ser,ENST00000515492,;TMEM175,missense_variant,p.Tyr128Ser,ENST00000509508,;DGKQ,downstream_gene_variant,,ENST00000273814,NM_001347.3;TMEM175,downstream_gene_variant,,ENST00000507319,;DGKQ,downstream_gene_variant,,ENST00000509465,;TMEM175,downstream_gene_variant,,ENST00000514453,;TMEM175,downstream_gene_variant,,ENST00000514546,;TMEM175,downstream_gene_variant,,ENST00000504180,;TMEM175,3_prime_UTR_variant,,ENST00000513952,;TMEM175,non_coding_transcript_exon_variant,,ENST00000438836,;TMEM175,non_coding_transcript_exon_variant,,ENST00000452360,;TMEM175,non_coding_transcript_exon_variant,,ENST00000515876,;TMEM175,non_coding_transcript_exon_variant,,ENST00000506669,;TMEM175,downstream_gene_variant,,ENST00000502513,;TMEM175,downstream_gene_variant,,ENST00000504505,;TMEM175,downstream_gene_variant,,ENST00000504744,;TMEM175,downstream_gene_variant,,ENST00000513682,; C ENSG00000127419 ENST00000264771 Transcript missense_variant 850/1860 665/1515 222/504 Y/S tAt/tCt 1 1 TMEM175 HGNC HGNC:28709 protein_coding YES CCDS3341.1 ENSP00000264771 Q9BSA9 UPI000006D921 NM_032326.3 tolerated(0.09) benign(0.157) 9/11 Transmembrane_helices:TMhelix,hmmpanther:PTHR31462 MODERATE 1 SNV 1 PASS TAT . . 955442 IDUA . GRCh38 chr4 1002791 1002791 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.1249A>C p.Thr417Pro p.T417P ENST00000247933 9/14 57 44 6 49 48 0 IDUA,missense_variant,p.Thr417Pro,ENST00000247933,NM_000203.4;IDUA,missense_variant,p.Thr285Pro,ENST00000514224,;IDUA,downstream_gene_variant,,ENST00000502910,;IDUA,downstream_gene_variant,,ENST00000504568,;IDUA,downstream_gene_variant,,ENST00000509948,;IDUA,downstream_gene_variant,,ENST00000514192,;IDUA,non_coding_transcript_exon_variant,,ENST00000514698,;IDUA,non_coding_transcript_exon_variant,,ENST00000502829,;IDUA,downstream_gene_variant,,ENST00000506561,;IDUA,downstream_gene_variant,,ENST00000508168,;IDUA,upstream_gene_variant,,ENST00000514417,;,regulatory_region_variant,,ENSR00000164751,; C ENSG00000127415 ENST00000247933 Transcript missense_variant 1337/2163 1249/1962 417/653 T/P Acg/Ccg 1 1 IDUA HGNC HGNC:5391 protein_coding YES CCDS3343.1 ENSP00000247933 P35475 UPI00004571D0 NM_000203.4 deleterious(0.04) benign(0.1) 9/14 Gene3D:2.60.40.1500,Pfam_domain:PF01229,hmmpanther:PTHR12631,hmmpanther:PTHR12631:SF8,Superfamily_domains:SSF51011 MODERATE 1 SNV 1 1 PASS CAC . . 1002791 SLIT2 . GRCh38 chr4 20596483 20596483 + Missense_Mutation SNP G G C 7316-1784 BS_Q5ABAC4M G G c.3389G>C p.Cys1130Ser p.C1130S ENST00000504154 32/37 61 34 26 35 34 0 SLIT2,missense_variant,p.Cys1130Ser,ENST00000504154,NM_004787.3;SLIT2,missense_variant,p.Cys1040Ser,ENST00000622093,;SLIT2,missense_variant,p.Cys1122Ser,ENST00000503823,NM_001289136.2;SLIT2,missense_variant,p.Cys1143Ser,ENST00000273739,;SLIT2,missense_variant,p.Cys1126Ser,ENST00000503837,NM_001289135.2;SLIT2,upstream_gene_variant,,ENST00000512993,; C ENSG00000145147 ENST00000504154 Transcript missense_variant 3641/6390 3389/4590 1130/1529 C/S tGt/tCt COSM5512009 1 1 SLIT2 HGNC HGNC:11086 protein_coding YES CCDS3426.1 ENSP00000422591 O94813 UPI00000747E4 NM_004787.3 deleterious(0) probably_damaging(1) 32/37 Gene3D:2.10.25.10,Pfam_domain:PF12661,PROSITE_profiles:PS50026,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF107,SMART_domains:SM00179,SMART_domains:SM00181,SMART_domains:SM00274,cd00054 1 MODERATE 1 SNV 1 1 PASS TGT . . 20596483 PCDH7 . GRCh38 chr4 30722057 30722057 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.635A>C p.Asn212Thr p.N212T ENST00000543491 1/1 61 49 10 41 39 1 PCDH7,missense_variant,p.Asn212Thr,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Asn212Thr,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,upstream_gene_variant,,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000507864,;,regulatory_region_variant,,ENSR00000167180,; C ENSG00000169851 ENST00000543491 Transcript missense_variant 1205/4457 635/3219 212/1072 N/T aAc/aCc 1 1 PCDH7 HGNC HGNC:8659 protein_coding YES CCDS75116.1 ENSP00000441802 O60245 UPI00001615DB NM_032456.2 tolerated(0.07) benign(0.006) 1/1 Low_complexity_(Seg):seg,mobidb-lite,cd11304,Gene3D:2.60.40.60,SMART_domains:SM00112,PROSITE_profiles:PS50268,hmmpanther:PTHR43912,hmmpanther:PTHR43912:SF8 MODERATE 1 SNV PASS AAC . . 30722057 SLAIN2 . GRCh38 chr4 48341906 48341906 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.167T>G p.Ile56Ser p.I56S ENST00000264313 1/8 67 58 8 41 41 0 SLAIN2,missense_variant,p.Ile56Ser,ENST00000264313,NM_020846.1;,regulatory_region_variant,,ENSR00000168120,; G ENSG00000109171 ENST00000264313 Transcript missense_variant 585/6299 167/1746 56/581 I/S aTt/aGt 1 1 SLAIN2 HGNC HGNC:29282 protein_coding YES CCDS47051.1 ENSP00000264313 Q9P270 A0A024R9T6 UPI0000074559 NM_020846.1 tolerated(0.6) benign(0) 1/8 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22406,hmmpanther:PTHR22406:SF4 MODERATE 1 SNV 1 PASS ATT . . 48341906 CXCL1 . GRCh38 chr4 73869505 73869505 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.35A>C p.Asn12Thr p.N12T ENST00000395761 1/4 71 58 9 57 55 0 CXCL1,missense_variant,p.Asn12Thr,ENST00000395761,NM_001511.3;CXCL1,non_coding_transcript_exon_variant,,ENST00000509101,;,regulatory_region_variant,,ENSR00000169250,; C ENSG00000163739 ENST00000395761 Transcript missense_variant 102/1097 35/324 12/107 N/T aAt/aCt 1 1 CXCL1 HGNC HGNC:4602 protein_coding YES CCDS47074.1 ENSP00000379110 P09341 UPI0000047AA6 NM_001511.3 tolerated(1) benign(0.024) 1/4 Prints_domain:PR00436,hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF69,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 PASS AAT . . 73869505 CXCL3 . GRCh38 chr4 74038577 74038577 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.35A>C p.Asn12Thr p.N12T ENST00000296026 1/4 75 59 14 37 35 0 CXCL3,missense_variant,p.Asn12Thr,ENST00000296026,NM_002090.2;CXCL3,non_coding_transcript_exon_variant,,ENST00000511669,;CXCL3,non_coding_transcript_exon_variant,,ENST00000510390,;CXCL3,non_coding_transcript_exon_variant,,ENST00000502974,;,regulatory_region_variant,,ENSR00000169278,; G ENSG00000163734 ENST00000296026 Transcript missense_variant 113/1075 35/324 12/107 N/T aAt/aCt 1 -1 CXCL3 HGNC HGNC:4604 protein_coding YES CCDS34007.1 ENSP00000296026 P19876 UPI0000000DFD NM_002090.2 tolerated(1) benign(0.023) 1/4 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF46,Prints_domain:PR00436 MODERATE 1 SNV 1 PASS ATT . . 74038577 PRSS12 . GRCh38 chr4 118352528 118352528 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.193T>G p.Phe65Val p.F65V ENST00000296498 1/13 51 37 12 35 34 0 PRSS12,missense_variant,p.Phe65Val,ENST00000296498,NM_003619.3;,regulatory_region_variant,,ENSR00000172341,; C ENSG00000164099 ENST00000296498 Transcript missense_variant 476/4809 193/2628 65/875 F/V Ttc/Gtc 1 -1 PRSS12 HGNC HGNC:9477 protein_coding YES CCDS3709.1 ENSP00000296498 P56730 UPI000013E34B NM_003619.3 tolerated_low_confidence(1) benign(0) 1/13 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAG . . 118352528 VEGFC . GRCh38 chr4 176792163 176792163 + Splice_Site SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.147+2T>G p.X49_splice ENST00000618562 52 41 10 24 23 0 VEGFC,splice_donor_variant,,ENST00000618562,NM_005429.4;,regulatory_region_variant,,ENSR00000176464,; C ENSG00000150630 ENST00000618562 Transcript splice_donor_variant 1 -1 VEGFC HGNC HGNC:12682 protein_coding YES CCDS43285.1 ENSP00000480043 P49767 UPI0000001C2A NM_005429.4 1/6 HIGH 1 SNV 1 1 PASS TAC . . 176792163 NKD2 . GRCh38 chr5 1009065 1009065 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.8A>C p.Lys3Thr p.K3T ENST00000296849 1/10 50 24 8 38 30 0 NKD2,missense_variant,p.Lys3Thr,ENST00000296849,NM_033120.3;NKD2,missense_variant,p.Lys3Thr,ENST00000274150,NM_001271082.1;AC116351.2,downstream_gene_variant,,ENST00000606540,;,regulatory_region_variant,,ENSR00000177496,; C ENSG00000145506 ENST00000296849 Transcript missense_variant 237/2155 8/1356 3/451 K/T aAa/aCa 1 1 NKD2 HGNC HGNC:17046 protein_coding YES CCDS3859.1 ENSP00000296849 Q969F2 UPI0000073E19 NM_033120.3 deleterious(0) possibly_damaging(0.859) 1/10 mobidb-lite,hmmpanther:PTHR22611:SF1,hmmpanther:PTHR22611 MODERATE 1 SNV 1 PASS AAA . . 1009065 TERT . GRCh38 chr5 1294937 1294937 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.53A>C p.Tyr18Ser p.Y18S ENST00000310581 1/16 63 46 11 30 30 0 TERT,missense_variant,p.Tyr18Ser,ENST00000310581,NM_198253.2;TERT,missense_variant,p.Tyr18Ser,ENST00000334602,NM_001193376.1;TERT,missense_variant,p.Tyr18Ser,ENST00000508104,;TERT,non_coding_transcript_exon_variant,,ENST00000522877,;TERT,missense_variant,p.Tyr18Ser,ENST00000460137,;,regulatory_region_variant,,ENSR00000177539,; G ENSG00000164362 ENST00000310581 Transcript missense_variant 111/4018 53/3399 18/1132 Y/S tAc/tCc 1 -1 TERT HGNC HGNC:11730 protein_coding YES CCDS3861.2 ENSP00000309572 O14746 UPI0000031309 NM_198253.2 deleterious(0) probably_damaging(0.946) 1/16 hmmpanther:PTHR12066 MODERATE 1 SNV 1 1 PASS GTA . . 1294937 PRDM9 . GRCh38 chr5 23526778 23526778 + Missense_Mutation SNP A A C rs557700179 7316-1784 BS_Q5ABAC4M A A c.1690A>C p.Lys564Gln p.K564Q ENST00000296682 11/11 80 57 8 52 49 0 PRDM9,missense_variant,p.Lys564Gln,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,; C ENSG00000164256 ENST00000296682 Transcript missense_variant 1872/3691 1690/2685 564/894 K/Q Aag/Cag rs557700179,COSM6235375 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(0.09) benign(0.111) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,Gene3D:3.30.40.10,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0.0004 0.0015 0,1 MODERATE 1 SNV 1 0,1 PASS GAA . . 2.076e-05 6.327e-05 0.0001207 9.03e-06 23526778 MAP3K1 . GRCh38 chr5 56881946 56881946 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.2746T>G p.Cys916Gly p.C916G ENST00000399503 14/20 68 59 8 48 48 0 MAP3K1,missense_variant,p.Cys916Gly,ENST00000399503,NM_005921.1;MAP3K1,upstream_gene_variant,,ENST00000469188,; G ENSG00000095015 ENST00000399503 Transcript missense_variant 2746/7011 2746/4539 916/1512 C/G Tgt/Ggt 1 1 MAP3K1 HGNC HGNC:6848 protein_coding YES CCDS43318.1 ENSP00000382423 Q13233 UPI000015153B NM_005921.1 tolerated_low_confidence(0.33) benign(0.01) 14/20 hmmpanther:PTHR24361:SF414,hmmpanther:PTHR24361 MODERATE 1 SNV 1 1 PASS ATG . . 56881946 BDP1 . GRCh38 chr5 71510013 71510013 + Missense_Mutation SNP C C A novel 7316-1784 BS_Q5ABAC4M C C c.2921C>A p.Thr974Asn p.T974N ENST00000358731 17/39 69 57 6 34 32 0 BDP1,missense_variant,p.Thr974Asn,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,; A ENSG00000145734 ENST00000358731 Transcript missense_variant 3184/11073 2921/7875 974/2624 T/N aCt/aAt 1 1 BDP1 HGNC HGNC:13652 protein_coding YES CCDS43328.1 ENSP00000351575 A6H8Y1 UPI000020CA90 NM_018429.2 tolerated(0.35) benign(0) 17/39 mobidb-lite,hmmpanther:PTHR22929 MODERATE 1 SNV 1 1 PASS ACT . . 71510013 AC008695.1 . GRCh38 chr5 131796841 131796841 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.81T>G p.Asp27Glu p.D27E ENST00000514667 1/29 53 44 7 31 31 0 AC008695.1,missense_variant,p.Asp27Glu,ENST00000514667,;FNIP1,missense_variant,p.Asp27Glu,ENST00000307968,NM_001008738.2;FNIP1,missense_variant,p.Asp27Glu,ENST00000307954,NM_001346114.1;FNIP1,missense_variant,p.Asp27Glu,ENST00000510461,NM_133372.2;FNIP1,missense_variant,p.Asp27Glu,ENST00000511848,NM_001346113.1;FNIP1,5_prime_UTR_variant,,ENST00000615660,;FNIP1,non_coding_transcript_exon_variant,,ENST00000623690,;AC005593.1,upstream_gene_variant,,ENST00000624894,;,regulatory_region_variant,,ENSR00000186768,; C ENSG00000273217 ENST00000514667 Transcript missense_variant 143/6393 81/4956 27/1651 D/E gaT/gaG 1 -1 AC008695.1 Clone_based_ensembl_gene protein_coding YES ENSP00000426948 E9PCH4 UPI0001D3B6D1 benign(0.005) 1/29 MODERATE SNV 2 PASS AAT . . 131796841 SEPT8 . GRCh38 chr5 132777113 132777113 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.25T>G p.Phe9Val p.F9V ENST00000378719 1/10 53 36 7 40 36 1 SEPT8,missense_variant,p.Phe9Val,ENST00000296873,NM_015146.1,NM_001300799.1;SEPT8,missense_variant,p.Phe9Val,ENST00000620483,;SEPT8,missense_variant,p.Phe9Val,ENST00000378706,;SEPT8,missense_variant,p.Phe9Val,ENST00000378719,NM_001098811.1;SEPT8,missense_variant,p.Phe9Val,ENST00000378701,NM_001300798.1;SEPT8,missense_variant,p.Phe9Val,ENST00000458488,NM_001098812.1;SEPT8,missense_variant,p.Phe9Val,ENST00000378721,;SEPT8,intron_variant,,ENST00000371493,;SEPT8,intron_variant,,ENST00000378699,;SEPT8,intron_variant,,ENST00000414594,;SEPT8,intron_variant,,ENST00000448933,NM_001098813.1;SEPT8,upstream_gene_variant,,ENST00000453480,;SEPT8,non_coding_transcript_exon_variant,,ENST00000492490,;SEPT8,non_coding_transcript_exon_variant,,ENST00000481794,;,regulatory_region_variant,,ENSR00000186892,; C ENSG00000164402 ENST00000378719 Transcript missense_variant 263/2889 25/1452 9/483 F/V Ttc/Gtc 1 -1 SEPT8 HGNC HGNC:16511 protein_coding YES CCDS43358.1 ENSP00000367991 Q92599 UPI00001C1E27 NM_001098811.1 tolerated_low_confidence(0.28) benign(0) 1/10 PIRSF_domain:PIRSF006698,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF54,mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 132777113 SOWAHA . GRCh38 chr5 132813622 132813622 + Translation_Start_Site SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.1A>C p.Met1? p.M1? ENST00000378693 1/1 49 40 7 35 35 0 SOWAHA,start_lost,p.Met1?,ENST00000378693,NM_175873.5;AC004775.1,downstream_gene_variant,,ENST00000607389,;,regulatory_region_variant,,ENSR00000186901,; C ENSG00000198944 ENST00000378693 Transcript start_lost 36/3211 1/1650 1/549 M/L Atg/Ctg 1 1 SOWAHA HGNC HGNC:27033 protein_coding YES CCDS43361.1 ENSP00000367965 Q2M3V2 UPI000156802F NM_175873.5 benign(0.013) 1/1 HIGH 1 SNV PASS CAT . . 132813622 B4GALT7 . GRCh38 chr5 177600214 177600214 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.4T>G p.Phe2Val p.F2V ENST00000029410 1/6 45 33 8 34 34 0 B4GALT7,missense_variant,p.Phe2Val,ENST00000029410,NM_007255.2;B4GALT7,5_prime_UTR_variant,,ENST00000510761,;TMED9,downstream_gene_variant,,ENST00000332598,NM_017510.4;B4GALT7,upstream_gene_variant,,ENST00000505468,;B4GALT7,upstream_gene_variant,,ENST00000507061,;B4GALT7,missense_variant,p.Phe2Val,ENST00000505433,;B4GALT7,non_coding_transcript_exon_variant,,ENST00000502420,;TMED9,downstream_gene_variant,,ENST00000507723,;TMED9,downstream_gene_variant,,ENST00000510499,;TMED9,downstream_gene_variant,,ENST00000513799,;,regulatory_region_variant,,ENSR00000191366,; G ENSG00000027847 ENST00000029410 Transcript missense_variant 115/1747 4/984 2/327 F/V Ttc/Gtc 1 1 B4GALT7 HGNC HGNC:930 protein_coding YES CCDS4429.1 ENSP00000029410 Q9UBV7 UPI00000361E1 NM_007255.2 tolerated_low_confidence(0.23) benign(0.01) 1/6 hmmpanther:PTHR19300:SF30,hmmpanther:PTHR19300 MODERATE 1 SNV 1 1 PASS GTT . . 177600214 FLT4 . GRCh38 chr5 180609040 180609040 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.3821A>C p.Asp1274Ala p.D1274A ENST00000261937 29/30 48 39 7 47 46 1 FLT4,missense_variant,p.Asp1274Ala,ENST00000261937,NM_182925.4;FLT4,missense_variant,p.Asp1274Ala,ENST00000393347,NM_002020.4;FLT4,missense_variant,p.Asp1274Ala,ENST00000502649,NM_001354989.1;FLT4,3_prime_UTR_variant,,ENST00000619105,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,non_coding_transcript_exon_variant,,ENST00000502603,;FLT4,downstream_gene_variant,,ENST00000510000,; G ENSG00000037280 ENST00000261937 Transcript missense_variant 3900/5857 3821/4092 1274/1363 D/A gAc/gCc 1 -1 FLT4 HGNC HGNC:3767 protein_coding YES CCDS4457.1 ENSP00000261937 P35916 UPI00001488E7 NM_182925.4 deleterious(0) probably_damaging(1) 29/30 hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49 MODERATE 1 SNV 1 1 PASS GTC . . 180609040 TRIM39 . GRCh38 chr6 30342214 30342214 + Missense_Mutation SNP G G T novel 7316-1784 BS_Q5ABAC4M G G c.1512G>T p.Lys504Asn p.K504N ENST00000376656 9/9 62 52 8 49 49 0 TRIM39,missense_variant,p.Lys474Asn,ENST00000376659,NM_172016.2;TRIM39,missense_variant,p.Lys504Asn,ENST00000376656,NM_021253.3;TRIM39,missense_variant,p.Lys474Asn,ENST00000396551,;TRIM39,missense_variant,p.Lys474Asn,ENST00000396548,;TRIM39,missense_variant,p.Lys504Asn,ENST00000396547,;TRIM39-RPP21,intron_variant,,ENST00000623385,NM_001199119.1;TRIM39,downstream_gene_variant,,ENST00000420746,;RPP21,upstream_gene_variant,,ENST00000428040,;RPP21,upstream_gene_variant,,ENST00000433076,NM_001199120.1;RPP21,upstream_gene_variant,,ENST00000436442,NM_001199121.1;RPP21,upstream_gene_variant,,ENST00000442966,NM_024839.2;RPP21,upstream_gene_variant,,ENST00000466327,;RPP21,upstream_gene_variant,,ENST00000489124,;RPP21,upstream_gene_variant,,ENST00000491477,;RPP21,upstream_gene_variant,,ENST00000473266,;RPP21,upstream_gene_variant,,ENST00000498414,; T ENSG00000204599 ENST00000376656 Transcript missense_variant 1824/3338 1512/1557 504/518 K/N aaG/aaT 1 1 TRIM39 HGNC HGNC:10065 protein_coding YES CCDS34377.1 ENSP00000365844 Q9HCM9 A0A024RCP5 UPI000013D097 NM_021253.3 tolerated(0.05) possibly_damaging(0.904) 9/9 PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF449,SMART_domains:SM00449,Superfamily_domains:SSF49899,cd13745 MODERATE 1 SNV 2 PASS AGA . . 30342214 MDC1 . GRCh38 chr6 30704867 30704867 + Missense_Mutation SNP C C A rs1329439970 7316-1784 BS_Q5ABAC4M C C c.4316G>T p.Arg1439Met p.R1439M ENST00000376406 10/15 44 35 7 41 37 0 MDC1,missense_variant,p.Arg1439Met,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4964/7576 4316/6270 1439/2089 R/M aGg/aTg rs1329439970,COSM6912800,COSM6912799 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 deleterious(0.04) probably_damaging(0.971) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 0,1,1 MODERATE SNV 5 0,1,1 PASS CCT . . 4.434e-06 9.559e-06 30704867 MUC21 . GRCh38 chr6 30986321 30986321 + Missense_Mutation SNP G G A rs201803580 7316-1784 BS_Q5ABAC4M G G c.146G>A p.Gly49Glu p.G49E ENST00000376296 2/3 73 55 12 39 38 1 MUC21,missense_variant,p.Gly49Glu,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,; A ENSG00000204544 ENST00000376296 Transcript missense_variant 387/3651 146/1701 49/566 G/E gGg/gAg rs201803580 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 tolerated_low_confidence(0.11) benign(0.003) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR39408,Pfam_domain:PF05647 MODERATE 1 SNV 1 PASS GGG . . 6.246e-05 8.718e-05 0.0002685 4.08e-05 0.0004537 0.000115 30986321 HLA-DRB1 . GRCh38 chr6 32580851 32580851 + Missense_Mutation SNP G G A rs34624872 7316-1784 BS_Q5ABAC4M G G c.658C>T p.Arg220Trp p.R220W ENST00000360004 4/6 40 30 9 25 25 0 HLA-DRB1,missense_variant,p.Arg220Trp,ENST00000360004,NM_002124.3; A ENSG00000196126 ENST00000360004 Transcript missense_variant 764/1229 658/801 220/266 R/W Cgg/Tgg rs34624872,COSM4003990,COSM1743500 1 -1 HLA-DRB1 HGNC HGNC:4948 protein_coding YES CCDS47409.1 ENSP00000353099 Q29974,P01911,Q9GIY3,P04229 X5DNQ0,D7RIH8 UPI000008A1F7 NM_002124.3 deleterious(0.01) possibly_damaging(0.773) 4/6 PDB-ENSP_mappings:1bx2.B,PDB-ENSP_mappings:1bx2.E,PDB-ENSP_mappings:1ymm.B,PDB-ENSP_mappings:2wbj.B,PDB-ENSP_mappings:2wbj.F,hmmpanther:PTHR19944:SF84,hmmpanther:PTHR19944 0,1,1 MODERATE 1 SNV 0,1,1 1 PASS CGT . . 0.1013 0.03368 0.1246 0.1299 0.08148 0.126 0.1055 0.09255 0.08345 32580851 HLA-DRB1 . GRCh38 chr6 32580864 32580864 + Splice_Region SNP A A T rs202161934 7316-1784 BS_Q5ABAC4M A A c.653-8T>A ENST00000360004 39 30 7 26 26 0 HLA-DRB1,splice_region_variant,,ENST00000360004,NM_002124.3; T ENSG00000196126 ENST00000360004 Transcript splice_region_variant,intron_variant rs202161934,COSM4422699 1 -1 HLA-DRB1 HGNC HGNC:4948 protein_coding YES CCDS47409.1 ENSP00000353099 Q29974,P01911,Q9GIY3,P04229 X5DNQ0,D7RIH8 UPI000008A1F7 NM_002124.3 3/5 0,1 LOW 1 SNV 0,1 1 PASS GAG . . 0.06316 0.01852 0.08868 0.09856 0.04432 0.0787 0.06384 0.0602 0.04776 32580864 SOBP . GRCh38 chr6 107634532 107634532 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.1688T>G p.Ile563Ser p.I563S ENST00000317357 6/7 32 22 8 33 31 0 SOBP,missense_variant,p.Ile563Ser,ENST00000317357,NM_018013.3;SOBP,upstream_gene_variant,,ENST00000494935,;,regulatory_region_variant,,ENSR00000200728,; G ENSG00000112320 ENST00000317357 Transcript missense_variant 2347/5245 1688/2622 563/873 I/S aTt/aGt 1 1 SOBP HGNC HGNC:29256 protein_coding YES CCDS43488.1 ENSP00000318900 A7XYQ1 UPI0000E6A8ED NM_018013.3 deleterious_low_confidence(0.03) benign(0.046) 6/7 mobidb-lite,hmmpanther:PTHR23186:SF2,hmmpanther:PTHR23186 MODERATE 1 SNV 5 1 PASS ATT . . 107634532 MAP7 . GRCh38 chr6 136361081 136361081 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.1715A>C p.Lys572Thr p.K572T ENST00000617204 12/18 34 29 5 28 28 0 MAP7,missense_variant,p.Lys572Thr,ENST00000617204,NM_001198609.1;MAP7,missense_variant,p.Lys505Thr,ENST00000618822,NM_001198616.1;MAP7,missense_variant,p.Lys396Thr,ENST00000432797,NM_001198619.1,NM_001198618.1;MAP7,missense_variant,p.Lys448Thr,ENST00000616617,NM_001198617.1;MAP7,missense_variant,p.Lys542Thr,ENST00000354570,NM_003980.4;MAP7,missense_variant,p.Lys564Thr,ENST00000454590,NM_001198608.1,NM_001198614.1;MAP7,missense_variant,p.Lys527Thr,ENST00000544465,NM_001198615.1;MAP7,missense_variant,p.Lys527Thr,ENST00000438100,NM_001198611.1;MAP7,missense_variant,p.Lys396Thr,ENST00000611373,;AL023284.3,upstream_gene_variant,,ENST00000571188,;AL023284.3,upstream_gene_variant,,ENST00000407767,; G ENSG00000135525 ENST00000617204 Transcript missense_variant 1964/4536 1715/2340 572/779 K/T aAg/aCg 1 -1 MAP7 HGNC HGNC:6869 protein_coding YES CCDS75527.1 ENSP00000482335 A0A087WZ40 UPI0001E765A0 NM_001198609.1 deleterious(0.02) benign(0.262) 12/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF4,Pfam_domain:PF05672 MODERATE 1 SNV 2 PASS CTT . . 136361081 KIF25 . GRCh38 chr6 168029662 168029662 + Missense_Mutation SNP A A C rs1371181363 7316-1784 BS_Q5ABAC4M A A c.77A>C p.Asp26Ala p.D26A ENST00000643607 6/13 32 22 9 41 38 1 KIF25,missense_variant,p.Asp26Ala,ENST00000643607,;KIF25,missense_variant,p.Asp26Ala,ENST00000443060,;KIF25,missense_variant,p.Asp26Ala,ENST00000354419,NM_030615.2;KIF25,missense_variant,p.Asp26Ala,ENST00000351261,NM_005355.3;KIF25,upstream_gene_variant,,ENST00000496008,;KIF25,downstream_gene_variant,,ENST00000515361,;KIF25,non_coding_transcript_exon_variant,,ENST00000644536,;KIF25,non_coding_transcript_exon_variant,,ENST00000645382,;KIF25,upstream_gene_variant,,ENST00000504593,; C ENSG00000125337 ENST00000643607 Transcript missense_variant 1344/2498 77/1155 26/384 D/A gAt/gCt rs1371181363,COSM5956551 1 1 KIF25 HGNC HGNC:6390 protein_coding YES CCDS5305.1 ENSP00000496229 UPI000012DDAB tolerated(0.55) benign(0.001) 6/13 PROSITE_profiles:PS50067,SMART_domains:SM00129 0,1 MODERATE 1 SNV 0,1 PASS GAT . . 168029662 DACT2 . GRCh38 chr6 168307737 168307737 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.2020T>G p.Phe674Val p.F674V ENST00000366795 4/4 31 20 9 36 34 0 DACT2,missense_variant,p.Phe674Val,ENST00000366795,NM_214462.4;DACT2,missense_variant,p.Phe504Val,ENST00000610183,NM_001286350.1;DACT2,missense_variant,p.Phe266Val,ENST00000607983,;DACT2,intron_variant,,ENST00000366796,NM_001286351.1; C ENSG00000164488 ENST00000366795 Transcript missense_variant 2109/2942 2020/2325 674/774 F/V Ttc/Gtc 1 -1 DACT2 HGNC HGNC:21231 protein_coding YES CCDS47519.1 ENSP00000355760 Q5SW24 UPI00001D8145 NM_214462.4 deleterious(0.01) possibly_damaging(0.891) 4/4 Pfam_domain:PF15268,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF13,mobidb-lite MODERATE 1 SNV 2 PASS AAC . . 168307737 GLI3 . GRCh38 chr7 41966231 41966231 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.2842A>C p.Met948Leu p.M948L ENST00000395925 15/15 77 58 16 50 50 0 GLI3,missense_variant,p.Met948Leu,ENST00000395925,NM_000168.5;GLI3,missense_variant,p.Met889Leu,ENST00000479210,; G ENSG00000106571 ENST00000395925 Transcript missense_variant 2927/8208 2842/4743 948/1580 M/L Atg/Ctg 1 -1 GLI3 HGNC HGNC:4319 protein_coding YES CCDS5465.1 ENSP00000379258 P10071 UPI000020EE4C NM_000168.5 tolerated(0.25) benign(0.145) 15/15 hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF5 MODERATE 1 SNV 5 1 PASS ATG . . 41966231 AEBP1 . GRCh38 chr7 44104667 44104667 + Translation_Start_Site SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.2T>G p.Met1? p.M1? ENST00000223357 1/21 45 36 7 38 37 0 AEBP1,start_lost,p.Met1?,ENST00000223357,NM_001129.4;AEBP1,upstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000453052,;,regulatory_region_variant,,ENSR00000211784,; G ENSG00000106624 ENST00000223357 Transcript start_lost 307/4081 2/3477 1/1158 M/R aTg/aGg 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 deleterious_low_confidence(0) benign(0.284) 1/21 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 44104667 CAMK2B . GRCh38 chr7 44226516 44226516 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.1597T>G p.Ser533Ala p.S533A ENST00000395749 20/24 46 35 8 35 35 0 CAMK2B,missense_variant,p.Ser533Ala,ENST00000395749,NM_001220.4;CAMK2B,intron_variant,,ENST00000258682,NM_172080.2;CAMK2B,intron_variant,,ENST00000346990,NM_172084.2;CAMK2B,intron_variant,,ENST00000347193,NM_172082.2;CAMK2B,intron_variant,,ENST00000350811,NM_001293170.1;CAMK2B,intron_variant,,ENST00000353625,NM_172083.2;CAMK2B,intron_variant,,ENST00000358707,NM_172081.2;CAMK2B,intron_variant,,ENST00000395747,;CAMK2B,intron_variant,,ENST00000433930,;CAMK2B,intron_variant,,ENST00000440254,NM_172078.2;CAMK2B,intron_variant,,ENST00000457475,NM_172079.2;CAMK2B,upstream_gene_variant,,ENST00000425809,;CAMK2B,splice_region_variant,,ENST00000489429,;CAMK2B,intron_variant,,ENST00000497584,;CAMK2B,intron_variant,,ENST00000353185,;CAMK2B,intron_variant,,ENST00000523845,; C ENSG00000058404 ENST00000395749 Transcript missense_variant,splice_region_variant 1674/4447 1597/2001 533/666 S/A Tcc/Gcc 1 -1 CAMK2B HGNC HGNC:1461 protein_coding YES CCDS5483.1 ENSP00000379098 Q13554 A4D2J9 UPI0000164A3E NM_001220.4 tolerated_low_confidence(1) benign(0) 20/24 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR43940,hmmpanther:PTHR43940:SF3,Gene3D:3.10.450.50,Superfamily_domains:SSF54427 MODERATE 1 SNV 1 1 PASS CAT . . 44226516 ZNF727 . GRCh38 chr7 64078399 64078399 + Missense_Mutation SNP G G T 7316-1784 BS_Q5ABAC4M G G c.1350G>T p.Lys450Asn p.K450N ENST00000456806 4/4 59 47 10 42 41 0 ZNF727,missense_variant,p.Lys450Asn,ENST00000456806,NM_001159522.1; T ENSG00000214652 ENST00000456806 Transcript missense_variant 1529/1679 1350/1500 450/499 K/N aaG/aaT COSM1472048 1 1 ZNF727 HGNC HGNC:22785 protein_coding YES CCDS55113.1 ENSP00000485448 A8MUV8 UPI0001A23134 NM_001159522.1 deleterious(0.02) possibly_damaging(0.845) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF98,hmmpanther:PTHR24384:SF98,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS AGC . . 64078399 ZNF680 . GRCh38 chr7 64521564 64521564 + Missense_Mutation SNP A A T novel 7316-1784 BS_Q5ABAC4M A A c.1190T>A p.Met397Lys p.M397K ENST00000309683 4/4 58 46 9 49 49 0 ZNF680,missense_variant,p.Met397Lys,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,downstream_gene_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,; T ENSG00000173041 ENST00000309683 Transcript missense_variant 1342/3022 1190/1593 397/530 M/K aTg/aAg 1 -1 ZNF680 HGNC HGNC:26897 protein_coding YES CCDS34644.1 ENSP00000309330 Q8NEM1 UPI000019980A NM_178558.4 tolerated(1) benign(0.001) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF121,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CAT . . 64521564 BHLHA15 . GRCh38 chr7 98212404 98212404 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.95A>C p.Asn32Thr p.N32T ENST00000609256 2/2 48 37 8 33 33 0 BHLHA15,missense_variant,p.Asn32Thr,ENST00000609256,;BHLHA15,missense_variant,p.Asn32Thr,ENST00000314018,NM_177455.3;LMTK2,downstream_gene_variant,,ENST00000297293,NM_014916.3;TECPR1,downstream_gene_variant,,ENST00000447648,NM_015395.2;TECPR1,downstream_gene_variant,,ENST00000463402,;TECPR1,downstream_gene_variant,,ENST00000485716,;TECPR1,downstream_gene_variant,,ENST00000490842,; C ENSG00000180535 ENST00000609256 Transcript missense_variant 221/796 95/570 32/189 N/T aAc/aCc 1 1 BHLHA15 HGNC HGNC:22265 protein_coding YES CCDS5655.1 ENSP00000476312 Q7RTS1 UPI000013F6EA tolerated_low_confidence(0.51) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF85 MODERATE SNV 3 PASS AAC . . 98212404 TRRAP . GRCh38 chr7 98878640 98878640 + Splice_Region SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.-62+3A>C ENST00000359863 54 45 6 42 41 0 TRRAP,splice_region_variant,,ENST00000355540,NM_003496.3;TRRAP,splice_region_variant,,ENST00000359863,NM_001244580.1;TRRAP,splice_region_variant,,ENST00000628380,;TRRAP,intron_variant,,ENST00000417523,;TRRAP,upstream_gene_variant,,ENST00000446306,;MIR3609,upstream_gene_variant,,ENST00000582661,;,regulatory_region_variant,,ENSR00000215586,; C ENSG00000196367 ENST00000359863 Transcript splice_region_variant,intron_variant 1 1 TRRAP HGNC HGNC:12347 protein_coding YES CCDS59066.1 ENSP00000352925 Q9Y4A5 UPI00004575B4 NM_001244580.1 1/71 LOW 1 SNV 1 1 PASS TAA . . 98878640 PPP1R35 . GRCh38 chr7 100435903 100435903 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.396A>C p.Glu132Asp p.E132D ENST00000292330 2/4 74 56 14 55 54 0 PPP1R35,missense_variant,p.Glu132Asp,ENST00000292330,NM_145030.2;MEPCE,downstream_gene_variant,,ENST00000310512,NM_019606.5;MEPCE,downstream_gene_variant,,ENST00000414441,NM_001194991.1,NM_001194990.1,NM_001194992.1;AC092849.2,intron_variant,,ENST00000492523,;AC092849.1,upstream_gene_variant,,ENST00000475250,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000476185,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000487452,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000491407,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000470295,;MEPCE,downstream_gene_variant,,ENST00000479201,;MEPCE,downstream_gene_variant,,ENST00000497759,;,regulatory_region_variant,,ENSR00000215791,; G ENSG00000160813 ENST00000292330 Transcript missense_variant 587/1031 396/762 132/253 E/D gaA/gaC 1 -1 PPP1R35 HGNC HGNC:28320 protein_coding YES CCDS5694.1 ENSP00000292330 Q8TAP8 UPI000006D9DB NM_145030.2 tolerated(0.1) probably_damaging(0.986) 2/4 hmmpanther:PTHR28625,Pfam_domain:PF15503 MODERATE 1 SNV 1 PASS GTT . . 100435903 MUC17 . GRCh38 chr7 101034616 101034616 + Missense_Mutation SNP C C T rs764782729 7316-1784 BS_Q5ABAC4M C C c.3200C>T p.Ala1067Val p.A1067V ENST00000306151 3/13 82 62 8 38 34 0 MUC17,missense_variant,p.Ala1067Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala1067Val,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 3264/14247 3200/13482 1067/4493 A/V gCt/gTt rs764782729,COSM6337075 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.001) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS GCT . . 101034616 VGF . GRCh38 chr7 101163117 101163117 + Missense_Mutation SNP T T G rs1272061532 7316-1784 BS_Q5ABAC4M T T c.1727A>C p.Tyr576Ser p.Y576S ENST00000249330 2/2 53 34 12 32 31 0 VGF,missense_variant,p.Tyr576Ser,ENST00000249330,NM_003378.3;VGF,missense_variant,p.Tyr576Ser,ENST00000445482,;VGF,intron_variant,,ENST00000611537,;AP1S1,downstream_gene_variant,,ENST00000337619,NM_001283.3;AP1S1,downstream_gene_variant,,ENST00000429457,;AP1S1,downstream_gene_variant,,ENST00000646560,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000643104,;AP1S1,downstream_gene_variant,,ENST00000443943,;AP1S1,downstream_gene_variant,,ENST00000646950,;,regulatory_region_variant,,ENSR00000215902,; G ENSG00000128564 ENST00000249330 Transcript missense_variant 1967/2575 1727/1848 576/615 Y/S tAt/tCt rs1272061532 1 -1 VGF HGNC HGNC:12684 protein_coding YES CCDS5712.1 ENSP00000249330 O15240 UPI000006FC7B NM_003378.3 tolerated_low_confidence(0.19) benign(0.052) 2/2 Gene3D:1.10.601.10,hmmpanther:PTHR15159,mobidb-lite MODERATE 1 SNV 1 PASS ATA . . 4.745e-06 3.582e-05 101163117 MDFIC . GRCh38 chr7 114923035 114923035 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.329T>G p.Met110Arg p.M110R ENST00000257724 2/5 61 49 11 42 41 0 MDFIC,start_lost,p.Met1?,ENST00000393486,NM_001166345.1;MDFIC,start_lost,p.Met1?,ENST00000448022,NM_001166346.1;MDFIC,start_lost,p.Met1?,ENST00000423503,;MDFIC,missense_variant,p.Met110Arg,ENST00000257724,NM_199072.4;MDFIC,missense_variant,p.Met110Arg,ENST00000614186,;MDFIC,upstream_gene_variant,,ENST00000427207,;MDFIC,upstream_gene_variant,,ENST00000431629,;,regulatory_region_variant,,ENSR00000216979,; G ENSG00000135272 ENST00000257724 Transcript missense_variant 592/4598 329/1068 110/355 M/R aTg/aGg 1 1 MDFIC HGNC HGNC:28870 protein_coding YES CCDS34737.1 ENSP00000257724 J3KN13 UPI000013CF80 NM_199072.4 deleterious_low_confidence(0) probably_damaging(0.953) 2/5 mobidb-lite,hmmpanther:PTHR15304:SF0,hmmpanther:PTHR15304 MODERATE 1 SNV 1 PASS ATG . . 114923035 C8orf76 . GRCh38 chr8 123241341 123241341 + Missense_Mutation SNP A A C rs1166415381 7316-1784 BS_Q5ABAC4M A A c.6T>G p.Asp2Glu p.D2E ENST00000276704 1/6 54 42 9 38 37 0 C8orf76,missense_variant,p.Asp2Glu,ENST00000276704,NM_032847.2;ZHX1-C8orf76,intron_variant,,ENST00000357082,NM_001204180.1;ZHX1-C8orf76,intron_variant,,ENST00000622816,;C8orf76,non_coding_transcript_exon_variant,,ENST00000521310,;C8orf76,non_coding_transcript_exon_variant,,ENST00000522477,;C8orf76,upstream_gene_variant,,ENST00000519791,;C8orf76,non_coding_transcript_exon_variant,,ENST00000523726,;C8orf76,upstream_gene_variant,,ENST00000518996,;,regulatory_region_variant,,ENSR00000229972,;UBA52P5,downstream_gene_variant,,ENST00000461723,; C ENSG00000189376 ENST00000276704 Transcript missense_variant 58/1341 6/1143 2/380 D/E gaT/gaG rs1166415381 1 -1 C8orf76 HGNC HGNC:25924 protein_coding YES CCDS6341.1 ENSP00000276704 Q96K31 UPI000006E851 NM_032847.2 tolerated_low_confidence(1) benign(0) 1/6 hmmpanther:PTHR31919 MODERATE 1 SNV 1 PASS AAT . . 1.096e-05 2.324e-05 123241341 FBXO32 . GRCh38 chr8 123541008 123541008 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.7T>G p.Phe3Val p.F3V ENST00000517956 1/9 48 33 12 40 40 0 FBXO32,missense_variant,p.Phe3Val,ENST00000517956,NM_148177.2,NM_058229.3;FBXO32,missense_variant,p.Phe3Val,ENST00000443022,NM_001242463.1;FBXO32,non_coding_transcript_exon_variant,,ENST00000521719,;FBXO32,non_coding_transcript_exon_variant,,ENST00000520511,;,regulatory_region_variant,,ENSR00000333220,; C ENSG00000156804 ENST00000517956 Transcript missense_variant 199/6744 7/1068 3/355 F/V Ttc/Gtc 1 -1 FBXO32 HGNC HGNC:16731 protein_coding YES CCDS6345.1 ENSP00000428205 Q969P5 A0A024R9F3 UPI0000034E28 NM_148177.2,NM_058229.3 deleterious(0) probably_damaging(0.998) 1/9 hmmpanther:PTHR13123:SF6,hmmpanther:PTHR13123 MODERATE 1 SNV 1 PASS AAT . . 123541008 MAPK15 . GRCh38 chr8 143718867 143718867 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.379T>G p.Phe127Val p.F127V ENST00000338033 5/14 65 54 8 30 30 0 MAPK15,missense_variant,p.Phe127Val,ENST00000338033,NM_139021.2;MAPK15,missense_variant,p.Phe144Val,ENST00000395107,;MAPK15,missense_variant,p.Phe127Val,ENST00000395108,;AC105219.2,non_coding_transcript_exon_variant,,ENST00000527908,;ZNF707,downstream_gene_variant,,ENST00000508587,;MAPK15,non_coding_transcript_exon_variant,,ENST00000484654,;MAPK15,upstream_gene_variant,,ENST00000461928,;MAPK15,downstream_gene_variant,,ENST00000475376,;MAPK15,upstream_gene_variant,,ENST00000528175,;MAPK15,upstream_gene_variant,,ENST00000533830,;,regulatory_region_variant,,ENSR00000232131,; G ENSG00000181085 ENST00000338033 Transcript missense_variant 498/1961 379/1635 127/544 F/V Ttc/Gtc 1 1 MAPK15 HGNC HGNC:24667 protein_coding YES CCDS6409.2 ENSP00000337691 Q8TD08 UPI00000496E7 NM_139021.2 deleterious(0) probably_damaging(0.93) 5/14 PROSITE_profiles:PS50011,cd07852,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF79,PROSITE_patterns:PS01351,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 PASS GTT . . 143718867 PRSS3 . GRCh38 chr9 33750632 33750632 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.116A>C p.Gln39Pro p.Q39P ENST00000361005 1/5 57 36 19 45 44 0 PRSS3,missense_variant,p.Gln39Pro,ENST00000361005,NM_007343.3;PRSS3,5_prime_UTR_variant,,ENST00000342836,NM_001197097.2;PRSS3,upstream_gene_variant,,ENST00000429677,NM_001197098.1;PRSS3,upstream_gene_variant,,ENST00000457896,;PRSS3,upstream_gene_variant,,ENST00000468152,; C ENSG00000010438 ENST00000361005 Transcript missense_variant 116/966 116/915 39/304 Q/P cAg/cCg 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 tolerated_low_confidence(0.14) benign(0.006) 1/5 MODERATE 1 SNV 1 PASS CAG . . 33750632 SHB . GRCh38 chr9 38068086 38068086 + Missense_Mutation SNP T T G rs1405092984 7316-1784 BS_Q5ABAC4M T T c.560A>C p.Lys187Thr p.K187T ENST00000377707 1/6 71 58 5 50 50 0 SHB,missense_variant,p.Lys187Thr,ENST00000377707,NM_003028.2;AL138752.2,missense_variant,p.Lys187Thr,ENST00000540557,;,regulatory_region_variant,,ENSR00000234949,; G ENSG00000107338 ENST00000377707 Transcript missense_variant 1126/2783 560/1530 187/509 K/T aAa/aCa rs1405092984 1 -1 SHB HGNC HGNC:10838 protein_coding YES CCDS43806.1 ENSP00000366936 Q15464 UPI000021143B NM_003028.2 deleterious(0) probably_damaging(0.986) 1/6 hmmpanther:PTHR15127:SF31,hmmpanther:PTHR15127 MODERATE 1 SNV 1 PASS TTT . . 38068086 ANKRD20A3 . GRCh38 chr9 66141077 66141080 + Frame_Shift_Del DEL TAAG TAAG - rs1190757672 7316-1784 BS_Q5ABAC4M TAAG TAAG c.775_778del p.Leu259LysfsTer34 p.L259Kfs*34 ENST00000611388 6/15 38 23 9 21 18 0 ANKRD20A3,frameshift_variant,p.Leu259LysfsTer34,ENST00000611388,NM_001012419.2;RNU6-538P,downstream_gene_variant,,ENST00000622329,;ANKRD20A3,3_prime_UTR_variant,,ENST00000614733,; - ENSG00000276203 ENST00000611388 Transcript frameshift_variant 887-890/3964 775-778/2472 259-260/823 LK/X CTTAaa/aa rs1190757672 1 -1 ANKRD20A3 HGNC HGNC:31981 protein_coding YES CCDS35029.1 ENSP00000482325 Q5VUR7 UPI000013CE65 NM_001012419.2 6/15 Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1,SMART_domains:SM00248,Low_complexity_(Seg):seg HIGH 1 deletion 1 PASS TTTAAGT . . 66141076 ENG . GRCh38 chr9 127825692 127825692 + Splice_Region SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.689+3A>C ENST00000373203 55 41 9 32 29 0 ENG,splice_region_variant,,ENST00000344849,NM_000118.3;ENG,splice_region_variant,,ENST00000373203,NM_001114753.2;ENG,splice_region_variant,,ENST00000480266,NM_001278138.1;AL162586.1,downstream_gene_variant,,ENST00000425991,;AL162586.1,downstream_gene_variant,,ENST00000439298,;ENG,downstream_gene_variant,,ENST00000462196,;ENG,upstream_gene_variant,,ENST00000486329,;,regulatory_region_variant,,ENSR00000241756,; G ENSG00000106991 ENST00000373203 Transcript splice_region_variant,intron_variant 1 -1 ENG HGNC HGNC:3349 protein_coding YES CCDS48029.1 ENSP00000362299 P17813 A0A024R878 UPI0000129E00 NM_001114753.2 5/14 LOW 1 SNV 1 1 PASS ATA . . 127825692 MIGA2 . GRCh38 chr9 129070428 129070428 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.1757A>C p.Asn586Thr p.N586T ENST00000358369 16/16 79 65 13 48 48 0 MIGA2,missense_variant,p.Asn586Thr,ENST00000358369,NM_032809.2,NM_001329990.1;MIGA2,downstream_gene_variant,,ENST00000474639,;MIGA2,downstream_gene_variant,,ENST00000495975,;MIGA2,3_prime_UTR_variant,,ENST00000439290,;MIGA2,3_prime_UTR_variant,,ENST00000445183,;MIGA2,non_coding_transcript_exon_variant,,ENST00000483458,;MIGA2,downstream_gene_variant,,ENST00000414342,;MIGA2,downstream_gene_variant,,ENST00000471943,;MIGA2,downstream_gene_variant,,ENST00000492279,; C ENSG00000148343 ENST00000358369 Transcript missense_variant 1983/3637 1757/1782 586/593 N/T aAt/aCt 1 1 MIGA2 HGNC HGNC:23621 protein_coding YES CCDS6917.1 ENSP00000351138 Q7L4E1 UPI00001B4EFD NM_032809.2,NM_001329990.1 tolerated(0.22) benign(0) 16/16 hmmpanther:PTHR21508,hmmpanther:PTHR21508:SF2 MODERATE 1 SNV 1 PASS AAT . . 129070428 GPR158 . GRCh38 chr10 25176055 25176055 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.635A>C p.His212Pro p.H212P ENST00000376351 1/11 60 48 5 27 27 0 GPR158,missense_variant,p.His212Pro,ENST00000376351,NM_020752.2;GPR158-AS1,non_coding_transcript_exon_variant,,ENST00000449643,;,regulatory_region_variant,,ENSR00000258603,; C ENSG00000151025 ENST00000376351 Transcript missense_variant 994/6959 635/3648 212/1215 H/P cAc/cCc 1 1 GPR158 HGNC HGNC:23689 protein_coding YES CCDS31166.1 ENSP00000365529 Q5T848 UPI0000199875 NM_020752.2 deleterious(0.03) benign(0.296) 1/11 hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Gene3D:3.30.450.20 MODERATE 1 SNV 1 PASS CAC . . 25176055 GPR158 . GRCh38 chr10 25176139 25176139 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.719A>C p.Asn240Thr p.N240T ENST00000376351 1/11 63 45 15 34 34 0 GPR158,missense_variant,p.Asn240Thr,ENST00000376351,NM_020752.2;GPR158-AS1,non_coding_transcript_exon_variant,,ENST00000449643,;,regulatory_region_variant,,ENSR00000258603,; C ENSG00000151025 ENST00000376351 Transcript missense_variant 1078/6959 719/3648 240/1215 N/T aAt/aCt 1 1 GPR158 HGNC HGNC:23689 protein_coding YES CCDS31166.1 ENSP00000365529 Q5T848 UPI0000199875 NM_020752.2 tolerated(0.48) benign(0.005) 1/11 hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Gene3D:3.30.450.20 MODERATE 1 SNV 1 PASS AAT . . 25176139 GJD4 . GRCh38 chr10 35608290 35608290 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.777A>C p.Glu259Asp p.E259D ENST00000321660 2/2 57 46 9 37 34 0 GJD4,missense_variant,p.Glu259Asp,ENST00000321660,NM_153368.2;AL121749.1,upstream_gene_variant,,ENST00000609313,;AL121749.1,upstream_gene_variant,,ENST00000635993,;,regulatory_region_variant,,ENSR00000026992,; C ENSG00000177291 ENST00000321660 Transcript missense_variant 935/1580 777/1113 259/370 E/D gaA/gaC 1 1 GJD4 HGNC HGNC:23296 protein_coding YES CCDS7191.1 ENSP00000315070 Q96KN9 UPI000007118B NM_153368.2 tolerated(0.49) benign(0.015) 2/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF3 MODERATE 1 SNV 1 PASS AAG . . 35608290 GPRIN2 . GRCh38 chr10 46550218 46550218 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.519A>C p.Glu173Asp p.E173D ENST00000374317 3/3 182 164 13 112 108 1 GPRIN2,missense_variant,p.Glu173Asp,ENST00000374317,NM_014696.3;GPRIN2,missense_variant,p.Glu173Asp,ENST00000374314,; G ENSG00000204175 ENST00000374317 Transcript missense_variant 792/1966 519/1377 173/458 E/D gaA/gaC 1 -1 GPRIN2 HGNC HGNC:23730 protein_coding YES CCDS73101.1 ENSP00000363436 O60269 UPI000013ECB4 NM_014696.3 tolerated(0.15) benign(0.005) 3/3 hmmpanther:PTHR15718,hmmpanther:PTHR15718:SF5 MODERATE 1 SNV 3 PASS TTT . . 46550218 SPRN . GRCh38 chr10 133423391 133423391 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.291A>C p.Glu97Asp p.E97D ENST00000414069 2/2 42 29 11 40 38 0 SPRN,missense_variant,p.Glu97Asp,ENST00000414069,NM_001012508.3;MTG1,downstream_gene_variant,,ENST00000317502,NM_138384.2;MTG1,downstream_gene_variant,,ENST00000432508,;AL360181.3,downstream_gene_variant,,ENST00000468317,;MTG1,downstream_gene_variant,,ENST00000477902,;MTG1,downstream_gene_variant,,ENST00000460848,;MTG1,downstream_gene_variant,,ENST00000473735,;,regulatory_region_variant,,ENSR00000035555,; G ENSG00000203772 ENST00000414069 Transcript missense_variant 403/3128 291/456 97/151 E/D gaA/gaC 1 -1 SPRN HGNC HGNC:16871 protein_coding YES CCDS53589.1 ENSP00000433712 Q5BIV9 UPI0000251EE8 NM_001012508.3 deleterious(0.05) benign(0.018) 2/2 mobidb-lite,hmmpanther:PTHR28552,Pfam_domain:PF14999 MODERATE 1 SNV 1 PASS GTT . . 133423391 MUC5AC . GRCh38 chr11 1186855 1186855 + Missense_Mutation SNP C C A novel 7316-1784 BS_Q5ABAC4M C C c.8710C>A p.Pro2904Thr p.P2904T ENST00000621226 31/49 53 40 8 54 52 0 MUC5AC,missense_variant,p.Pro2904Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; A ENSG00000215182 ENST00000621226 Transcript missense_variant 8757/17448 8710/16965 2904/5654 P/T Cct/Act 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated_low_confidence(0.23) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TCC . . 1186855 ADM . GRCh38 chr11 10306550 10306550 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.467A>C p.Glu156Ala p.E156A ENST00000528655 3/3 48 31 17 36 36 0 ADM,missense_variant,p.Glu156Ala,ENST00000528655,;ADM,missense_variant,p.Glu156Ala,ENST00000278175,NM_001124.2;ADM,missense_variant,p.Glu88Ala,ENST00000530439,;ADM,missense_variant,p.Glu109Ala,ENST00000534464,;ADM,missense_variant,p.Glu156Ala,ENST00000525063,;ADM,downstream_gene_variant,,ENST00000524948,;ADM,downstream_gene_variant,,ENST00000526492,;ADM,downstream_gene_variant,,ENST00000528544,;AC080023.1,upstream_gene_variant,,ENST00000526906,;AMPD3,upstream_gene_variant,,ENST00000527261,;,regulatory_region_variant,,ENSR00000036712,; C ENSG00000148926 ENST00000528655 Transcript missense_variant 1084/1889 467/558 156/185 E/A gAg/gCg 1 1 ADM HGNC HGNC:259 protein_coding YES CCDS7801.1 ENSP00000436607 P35318 UPI00001255F0 deleterious(0.04) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR23414,hmmpanther:PTHR23414:SF3,Prints_domain:PR00801 MODERATE 1 SNV 1 PASS GAG . . 10306550 FJX1 . GRCh38 chr11 35618893 35618893 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.257T>G p.Leu86Arg p.L86R ENST00000317811 1/1 44 34 9 38 37 0 FJX1,missense_variant,p.Leu86Arg,ENST00000317811,NM_014344.3;FJX1,upstream_gene_variant,,ENST00000532914,;,regulatory_region_variant,,ENSR00000263576,; G ENSG00000179431 ENST00000317811 Transcript missense_variant 475/2450 257/1314 86/437 L/R cTg/cGg 1 1 FJX1 HGNC HGNC:17166 protein_coding YES CCDS44570.1 ENSP00000400223 Q86VR8 UPI0000062321 NM_014344.3 deleterious(0.01) benign(0.33) 1/1 hmmpanther:PTHR13147 MODERATE 1 SNV PASS CTG . . 35618893 LRRC10B . GRCh38 chr11 61509765 61509765 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.767T>G p.Phe256Cys p.F256C ENST00000378075 1/1 49 39 8 44 43 0 LRRC10B,missense_variant,p.Phe256Cys,ENST00000378075,NM_001145077.1;MIR4488,downstream_gene_variant,,ENST00000577388,;,regulatory_region_variant,,ENSR00000040282,; G ENSG00000204950 ENST00000378075 Transcript missense_variant 966/2219 767/879 256/292 F/C tTt/tGt 1 1 LRRC10B HGNC HGNC:37215 protein_coding YES CCDS44621.1 ENSP00000367315 A6NIK2 UPI00006C114B NM_001145077.1 tolerated(0.18) benign(0.053) 1/1 hmmpanther:PTHR45163,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV PASS TTT . . 61509765 SYT7 . GRCh38 chr11 61546232 61546232 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.239A>C p.Lys80Thr p.K80T ENST00000540677 4/10 39 25 9 28 26 0 SYT7,missense_variant,p.Lys124Thr,ENST00000539008,;SYT7,missense_variant,p.Lys80Thr,ENST00000540677,NM_001252065.1;SYT7,missense_variant,p.Lys124Thr,ENST00000535826,;SYT7,intron_variant,,ENST00000263846,NM_004200.3;SYT7,intron_variant,,ENST00000542670,;SYT7,intron_variant,,ENST00000542836,NM_001300773.1;SYT7,intron_variant,,ENST00000545053,;AP003559.1,upstream_gene_variant,,ENST00000540906,;SYT7,3_prime_UTR_variant,,ENST00000539468,;SYT7,intron_variant,,ENST00000539246,; G ENSG00000011347 ENST00000540677 Transcript missense_variant 245/2013 239/1437 80/478 K/T aAa/aCa 1 -1 SYT7 HGNC HGNC:11514 protein_coding YES CCDS58139.1 ENSP00000444201 O43581 UPI0001639ECE NM_001252065.1 tolerated_low_confidence(0.53) benign(0.094) 4/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTT . . 61546232 AHNAK . GRCh38 chr11 62522564 62522564 + Missense_Mutation SNP T T A rs1166145824 7316-1784 BS_Q5ABAC4M T T c.11853A>T p.Glu3951Asp p.E3951D ENST00000378024 5/5 59 49 8 35 33 0 AHNAK,missense_variant,p.Glu3951Asp,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 12128/18787 11853/17673 3951/5890 E/D gaA/gaT rs1166145824 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.81) benign(0.003) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 MODERATE 1 SNV 2 PASS CTT . . 62522564 AHNAK . GRCh38 chr11 62522646 62522646 + Missense_Mutation SNP C C T rs142578457 7316-1784 BS_Q5ABAC4M C C c.11771G>A p.Arg3924Gln p.R3924Q ENST00000378024 5/5 46 37 5 35 34 0 AHNAK,missense_variant,p.Arg3924Gln,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 12046/18787 11771/17673 3924/5890 R/Q cGa/cAa rs142578457,COSM6289522,COSM6289521 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.54) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TCG . . 0.0003531 0.0001402 0.0004824 4.507e-05 0.0001199 0.001812 62522646 AHNAK . GRCh38 chr11 62522785 62522785 + Missense_Mutation SNP T T A rs1358472157 7316-1784 BS_Q5ABAC4M T T c.11632A>T p.Ile3878Phe p.I3878F ENST00000378024 5/5 44 36 7 37 36 0 AHNAK,missense_variant,p.Ile3878Phe,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 11907/18787 11632/17673 3878/5890 I/F Att/Ttt rs1358472157 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.23) benign(0.012) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 MODERATE 1 SNV 2 PASS ATG . . 62522785 AHNAK . GRCh38 chr11 62528863 62528863 + Missense_Mutation SNP C C T rs776951157 7316-1784 BS_Q5ABAC4M C C c.5554G>A p.Ala1852Thr p.A1852T ENST00000378024 5/5 66 52 10 41 41 0 AHNAK,missense_variant,p.Ala1852Thr,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 5829/18787 5554/17673 1852/5890 A/T Gcc/Acc rs776951157,COSM6336839,COSM6336838 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.3) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GCC . . 3.662e-05 0.0001963 0.0001346 2.688e-05 62528863 CDC42BPG . GRCh38 chr11 64844469 64844469 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.101A>C p.His34Pro p.H34P ENST00000342711 1/37 60 49 7 35 34 0 CDC42BPG,missense_variant,p.His34Pro,ENST00000342711,NM_017525.2;,regulatory_region_variant,,ENSR00000040737,;,TF_binding_site_variant,,MA0059.1,; G ENSG00000171219 ENST00000342711 Transcript missense_variant 101/5742 101/4656 34/1551 H/P cAc/cCc 1 -1 CDC42BPG HGNC HGNC:29829 protein_coding YES CCDS31601.1 ENSP00000345133 Q6DT37 UPI000047C9E2 NM_017525.2 deleterious(0.03) benign(0.069) 1/37 Low_complexity_(Seg):seg,hmmpanther:PTHR22988:SF22,hmmpanther:PTHR22988 MODERATE 1 SNV 1 PASS GTG . . 64844469 SART1 . GRCh38 chr11 65961954 65961954 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.174A>C p.Glu58Asp p.E58D ENST00000312397 1/20 68 44 16 35 35 0 SART1,missense_variant,p.Glu58Asp,ENST00000312397,NM_005146.4;TSGA10IP,downstream_gene_variant,,ENST00000532620,NM_152762.2;SART1,non_coding_transcript_exon_variant,,ENST00000528573,;SART1,missense_variant,p.Glu58Asp,ENST00000530251,;SART1,non_coding_transcript_exon_variant,,ENST00000529532,;SART1,non_coding_transcript_exon_variant,,ENST00000532333,;TSGA10IP,downstream_gene_variant,,ENST00000534740,;TSGA10IP,downstream_gene_variant,,ENST00000608857,;,regulatory_region_variant,,ENSR00000040915,; C ENSG00000175467 ENST00000312397 Transcript missense_variant 266/3293 174/2403 58/800 E/D gaA/gaC 1 1 SART1 HGNC HGNC:10538 protein_coding YES CCDS31611.1 ENSP00000310448 O43290 UPI00000732D5 NM_005146.4 tolerated_low_confidence(0.42) possibly_damaging(0.899) 1/20 PDB-ENSP_mappings:5o9z.P,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 65961954 MAP6 . GRCh38 chr11 75667801 75667801 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.569T>G p.Ile190Ser p.I190S ENST00000304771 1/4 60 48 8 44 41 1 MAP6,missense_variant,p.Ile190Ser,ENST00000434603,NM_207577.1;MAP6,missense_variant,p.Ile190Ser,ENST00000304771,NM_033063.1;MAP6,intron_variant,,ENST00000526740,;,regulatory_region_variant,,ENSR00000042185,; C ENSG00000171533 ENST00000304771 Transcript missense_variant 1320/3334 569/2442 190/813 I/S aTt/aGt 1 -1 MAP6 HGNC HGNC:6868 protein_coding YES CCDS31641.1 ENSP00000307093 Q96JE9 UPI0000251E6A NM_033063.1 tolerated_low_confidence(0.33) benign(0.003) 1/4 hmmpanther:PTHR14759,hmmpanther:PTHR14759:SF2,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 75667801 KMT2A . GRCh38 chr11 118436691 118436691 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.179T>G p.Val60Gly p.V60G ENST00000534358 1/36 38 24 7 49 45 1 KMT2A,missense_variant,p.Val60Gly,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Val60Gly,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Val60Gly,ENST00000531904,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000529852,;KMT2A,upstream_gene_variant,,ENST00000532204,;KMT2A,upstream_gene_variant,,ENST00000533790,;AP001267.2,upstream_gene_variant,,ENST00000532619,;,regulatory_region_variant,,ENSR00000045630,; G ENSG00000118058 ENST00000534358 Transcript missense_variant 202/16602 179/11919 60/3972 V/G gTg/gGg 1 1 KMT2A HGNC HGNC:7132 protein_coding YES CCDS55791.1 ENSP00000436786 Q03164 UPI0001E5E732 NM_001197104.1 tolerated_low_confidence(0.53) benign(0) 1/36 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTG . . 118436691 WNT10B . GRCh38 chr12 48966295 48966295 + Missense_Mutation SNP T T G 7316-1784 BS_Q5ABAC4M T T c.970A>C p.Met324Leu p.M324L ENST00000301061 5/5 67 55 10 34 33 1 WNT10B,missense_variant,p.Met324Leu,ENST00000301061,NM_003394.3;WNT10B,3_prime_UTR_variant,,ENST00000403957,;WNT10B,3_prime_UTR_variant,,ENST00000407467,;WNT10B,downstream_gene_variant,,ENST00000413630,;WNT10B,downstream_gene_variant,,ENST00000420388,;WNT10B,downstream_gene_variant,,ENST00000475740,; G ENSG00000169884 ENST00000301061 Transcript missense_variant 1319/2274 970/1170 324/389 M/L Atg/Ctg COSM5811926 1 -1 WNT10B HGNC HGNC:12775 protein_coding YES CCDS8775.1 ENSP00000301061 O00744 UPI0000138F21 NM_003394.3 tolerated(1) benign(0) 5/5 hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF76,Pfam_domain:PF00110,SMART_domains:SM00097 1 MODERATE 1 SNV 1 1 1 PASS ATA . . 48966295 ACAD10 . GRCh38 chr12 111692898 111692898 + Splice_Site SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.187+2T>G p.X63_splice ENST00000455480 54 39 12 59 57 1 ACAD10,splice_donor_variant,,ENST00000313698,NM_025247.5;ACAD10,splice_donor_variant,,ENST00000455480,NM_001136538.1;ACAD10,splice_donor_variant,,ENST00000514615,;ACAD10,splice_donor_variant,,ENST00000549590,;ACAD10,intron_variant,,ENST00000515283,;ACAD10,downstream_gene_variant,,ENST00000552965,;ACAD10,splice_donor_variant,,ENST00000413681,;ACAD10,splice_donor_variant,,ENST00000507135,;ACAD10,splice_donor_variant,,ENST00000509936,;ACAD10,non_coding_transcript_exon_variant,,ENST00000511915,; G ENSG00000111271 ENST00000455480 Transcript splice_donor_variant 1 1 ACAD10 HGNC HGNC:21597 protein_coding YES CCDS44973.1 ENSP00000389813 Q6JQN1 UPI000013F5E7 NM_001136538.1 2/21 HIGH 1 SNV 1 PASS GTG . . 111692898 DDX51 . GRCh38 chr12 132144067 132144067 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.230A>C p.Asn77Thr p.N77T ENST00000397333 1/15 62 50 12 47 47 0 DDX51,missense_variant,p.Asn77Thr,ENST00000397333,NM_175066.3;NOC4L,upstream_gene_variant,,ENST00000330579,NM_024078.2;NOC4L,upstream_gene_variant,,ENST00000541954,;NOC4L,upstream_gene_variant,,ENST00000535343,;DDX51,upstream_gene_variant,,ENST00000329073,;DDX51,upstream_gene_variant,,ENST00000462829,;DDX51,upstream_gene_variant,,ENST00000541489,;DDX51,upstream_gene_variant,,ENST00000545991,;DDX51,upstream_gene_variant,,ENST00000546058,;,regulatory_region_variant,,ENSR00000059463,; G ENSG00000185163 ENST00000397333 Transcript missense_variant 269/4718 230/2001 77/666 N/T aAc/aCc 1 -1 DDX51 HGNC HGNC:20082 protein_coding YES CCDS41865.1 ENSP00000380495 Q8N8A6 UPI000049DD95 NM_175066.3 tolerated(0.61) benign(0.017) 1/15 Gene3D:3.40.50.300,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF68,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 132144067 AMER2 . GRCh38 chr13 25170712 25170712 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.908A>C p.His303Pro p.H303P ENST00000515384 1/1 40 33 6 42 41 0 AMER2,missense_variant,p.His303Pro,ENST00000515384,NM_152704.3;AMER2,intron_variant,,ENST00000357816,NM_199138.2;LINC00463,downstream_gene_variant,,ENST00000413501,;,regulatory_region_variant,,ENSR00000060126,; G ENSG00000165566 ENST00000515384 Transcript missense_variant 1576/3197 908/2016 303/671 H/P cAt/cCt 1 -1 AMER2 HGNC HGNC:26360 protein_coding YES CCDS53859.1 ENSP00000426528 Q8N7J2 UPI0000231C76 NM_152704.3 tolerated(0.31) benign(0.001) 1/1 Pfam_domain:PF09422,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF1,mobidb-lite MODERATE SNV PASS ATG . . 25170712 ZIC5 . GRCh38 chr13 99970738 99970738 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.938A>C p.Tyr313Ser p.Y313S ENST00000267294 1/2 35 22 10 39 39 0 ZIC5,missense_variant,p.Tyr313Ser,ENST00000267294,NM_033132.3;,regulatory_region_variant,,ENSR00000065144,; G ENSG00000139800 ENST00000267294 Transcript missense_variant 1172/4639 938/1992 313/663 Y/S tAc/tCc 1 -1 ZIC5 HGNC HGNC:20322 protein_coding YES CCDS9494.2 ENSP00000267294 Q96T25 UPI0000458928 NM_033132.3 deleterious(0.02) possibly_damaging(0.86) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF69,hmmpanther:PTHR19818 MODERATE 1 SNV 1 PASS GTA . . 99970738 OR4K3 . GRCh38 chr14 19868473 19868473 + Missense_Mutation SNP G G A rs139699273 7316-1784 BS_Q5ABAC4M G G c.671C>T p.Pro224Leu p.P224L ENST00000425829 1/1 109 88 20 82 82 0 OR4K3,missense_variant,p.Pro224Leu,ENST00000425829,; A ENSG00000176290 ENST00000425829 Transcript missense_variant 671/947 671/947 224/315 P/L cCg/cTg rs139699273 1 -1 OR4K3 HGNC HGNC:14731 polymorphic_pseudogene YES ENSP00000493291 deleterious_low_confidence(0.02) unknown(0) 1/1 0.0002 0.0008 MODERATE 1 SNV PASS CGG . . 19868473 FOXG1 . GRCh38 chr14 28767713 28767713 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.434A>C p.Lys145Thr p.K145T ENST00000313071 1/1 46 24 11 30 28 0 FOXG1,missense_variant,p.Lys145Thr,ENST00000313071,NM_005249.4;LINC01551,upstream_gene_variant,,ENST00000399387,;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000637351,;FOXG1,downstream_gene_variant,,ENST00000637817,;,regulatory_region_variant,,ENSR00000067057,; C ENSG00000176165 ENST00000313071 Transcript missense_variant 2326/4890 434/1470 145/489 K/T aAg/aCg 1 1 FOXG1 HGNC HGNC:3811 protein_coding YES CCDS9636.1 ENSP00000339004 P55316 UPI00001AE46C NM_005249.4 tolerated_low_confidence(0.25) benign(0.19) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11829:SF316,hmmpanther:PTHR11829 MODERATE SNV 1 PASS AAG . . 28767713 GCH1 . GRCh38 chr14 54902600 54902600 + Missense_Mutation SNP A A C rs1220614834 7316-1784 BS_Q5ABAC4M A A c.64T>G p.Phe22Val p.F22V ENST00000491895 1/6 51 39 10 49 48 1 GCH1,missense_variant,p.Phe22Val,ENST00000491895,;GCH1,missense_variant,p.Phe22Val,ENST00000622544,NM_000161.2;GCH1,missense_variant,p.Phe22Val,ENST00000395514,NM_001024024.1;GCH1,missense_variant,p.Phe22Val,ENST00000543643,NM_001024070.1;GCH1,missense_variant,p.Phe22Val,ENST00000536224,NM_001024071.1;GCH1,non_coding_transcript_exon_variant,,ENST00000254299,;GCH1,upstream_gene_variant,,ENST00000395521,;,regulatory_region_variant,,ENSR00000068779,; C ENSG00000131979 ENST00000491895 Transcript missense_variant 253/2943 64/753 22/250 F/V Ttc/Gtc rs1220614834 1 -1 GCH1 HGNC HGNC:4193 protein_coding YES CCDS9720.1 ENSP00000419045 P30793 A0A024R642 UPI0000001289 tolerated(0.24) benign(0.01) 1/6 mobidb-lite MODERATE 1 SNV 1 1 PASS AAC . . 1.01e-05 5.669e-05 54902600 SGPP1 . GRCh38 chr14 63727685 63727685 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.260A>C p.Asn87Thr p.N87T ENST00000247225 1/3 54 45 9 42 40 2 SGPP1,missense_variant,p.Asn87Thr,ENST00000247225,NM_030791.3;,regulatory_region_variant,,ENSR00000069545,; G ENSG00000126821 ENST00000247225 Transcript missense_variant 355/3312 260/1326 87/441 N/T aAc/aCc 1 -1 SGPP1 HGNC HGNC:17720 protein_coding YES CCDS9760.1 ENSP00000247225 Q9BX95 UPI000006DEB2 NM_030791.3 tolerated(0.25) benign(0.235) 1/3 mobidb-lite,hmmpanther:PTHR14969,hmmpanther:PTHR14969:SF16,Gene3D:1.20.144.10 MODERATE 1 SNV 1 PASS GTT . . 63727685 ISM2 . GRCh38 chr14 77484483 77484483 + Missense_Mutation SNP A A G rs748013943 7316-1784 BS_Q5ABAC4M A A c.467T>C p.Leu156Pro p.L156P ENST00000342219 3/7 61 52 6 40 39 0 ISM2,missense_variant,p.Leu156Pro,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Leu156Pro,ENST00000493585,NM_182509.3;ISM2,intron_variant,,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,; G ENSG00000100593 ENST00000342219 Transcript missense_variant 524/2971 467/1716 156/571 L/P cTa/cCa rs748013943 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 tolerated(1) benign(0) 3/7 MODERATE 1 SNV 1 PASS TAG . . 0.001381 0.004258 0.001095 0.001037 0.002565 9.23e-05 0.001284 0.001506 0.00124 77484483 ISM2 . GRCh38 chr14 77484837 77484837 + Missense_Mutation SNP G G A rs757150689 7316-1784 BS_Q5ABAC4M G G c.224C>T p.Pro75Leu p.P75L ENST00000342219 2/7 47 39 6 45 43 0 ISM2,missense_variant,p.Pro75Leu,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Pro75Leu,ENST00000493585,NM_182509.3;ISM2,missense_variant,p.Pro75Leu,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,; A ENSG00000100593 ENST00000342219 Transcript missense_variant 281/2971 224/1716 75/571 P/L cCa/cTa rs757150689 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 deleterious_low_confidence(0.02) benign(0.003) 2/7 hmmpanther:PTHR10239,hmmpanther:PTHR10239:SF28 MODERATE 1 SNV 1 PASS TGG . . 0.0003797 0.0006132 0.0003857 0.0007181 4.626e-05 0.0004539 0.0006438 0.0001497 77484837 ISM2 . GRCh38 chr14 77484888 77484888 + Missense_Mutation SNP T T C rs191144361 7316-1784 BS_Q5ABAC4M T T c.173A>G p.Lys58Arg p.K58R ENST00000342219 2/7 52 41 10 44 43 1 ISM2,missense_variant,p.Lys58Arg,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Lys58Arg,ENST00000493585,NM_182509.3;ISM2,missense_variant,p.Lys58Arg,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,; C ENSG00000100593 ENST00000342219 Transcript missense_variant 230/2971 173/1716 58/571 K/R aAg/aGg rs191144361,COSM5950673 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 tolerated_low_confidence(1) benign(0) 2/7 hmmpanther:PTHR10239,hmmpanther:PTHR10239:SF28,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CTT . . 0.001351 0.001287 0.002172 0.001609 0.003138 5.107e-05 0.001114 0.001518 0.001335 77484888 AHNAK2 . GRCh38 chr14 104952324 104952324 + Missense_Mutation SNP T T C rs200259651 7316-1784 BS_Q5ABAC4M T T c.3127A>G p.Thr1043Ala p.T1043A ENST00000333244 7/7 81 67 5 42 41 0 AHNAK2,missense_variant,p.Thr1043Ala,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; C ENSG00000185567 ENST00000333244 Transcript missense_variant 3247/18254 3127/17388 1043/5795 T/A Acc/Gcc rs200259651 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.23) benign(0.001) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS GTC . . 0.00225 0.01164 0.0005607 0.0003087 0.01798 0.0001366 0.001923 0.002699 104952324 TMEM121 . GRCh38 chr14 105529760 105529760 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.926T>G p.Met309Arg p.M309R ENST00000392519 2/2 70 56 11 34 32 0 TMEM121,missense_variant,p.Met309Arg,ENST00000392519,NM_025268.2;TMEM121,missense_variant,p.Met309Arg,ENST00000431372,;TMEM121,downstream_gene_variant,,ENST00000552019,;,TF_binding_site_variant,,PB0010.1,; G ENSG00000184986 ENST00000392519 Transcript missense_variant 1090/1532 926/960 309/319 M/R aTg/aGg 1 1 TMEM121 HGNC HGNC:20511 protein_coding YES CCDS10006.1 ENSP00000376304 Q9BTD3 UPI0000073639 NM_025268.2 tolerated_low_confidence(0.45) benign(0) 2/2 hmmpanther:PTHR31046,hmmpanther:PTHR31046:SF0,mobidb-lite MODERATE 1 SNV 1 PASS ATG . . 105529760 IGHEP1 . GRCh38 chr14 105722201 105722201 + Splice_Region SNP T T G novel 7316-1784 BS_Q5ABAC4M T T n.319+8A>C ENST00000521393 72 63 7 46 45 0 IGHEP1,splice_region_variant,,ENST00000521393,; G ENSG00000253692 ENST00000521393 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 IGHEP1 HGNC HGNC:5523 IG_C_pseudogene YES 1/1 LOW 1 SNV PASS GTG . . 105722201 GOLGA6L2 . GRCh38 chr15 23441371 23441371 + Missense_Mutation SNP T T G 7316-1784 BS_Q5ABAC4M T T c.1104A>C p.Glu368Asp p.E368D ENST00000567107 8/8 56 39 10 30 25 0 GOLGA6L2,missense_variant,p.Glu368Asp,ENST00000567107,NM_001304388.1;GOLGA6L2,missense_variant,p.Glu95Asp,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; G ENSG00000174450 ENST00000567107 Transcript missense_variant 1157/3030 1104/2730 368/909 E/D gaA/gaC COSM6287913,COSM6287912,COSM6287911 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 deleterious_low_confidence(0.03) benign(0.001) 8/8 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21 1,1,1 MODERATE 1 SNV 5 1,1,1 PASS CTT . . 23441371 KLF13 . GRCh38 chr15 31327345 31327345 + Missense_Mutation SNP A A C rs1057070402 7316-1784 BS_Q5ABAC4M A A c.133A>C p.Thr45Pro p.T45P ENST00000307145 1/2 32 24 7 35 33 1 KLF13,missense_variant,p.Thr45Pro,ENST00000307145,NM_015995.3;KLF13,upstream_gene_variant,,ENST00000558921,;,regulatory_region_variant,,ENSR00000074488,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,PB0010.1,; C ENSG00000169926 ENST00000307145 Transcript missense_variant 491/6825 133/867 45/288 T/P Acg/Ccg rs1057070402 1 1 KLF13 HGNC HGNC:13672 protein_coding YES CCDS10025.1 ENSP00000302456 Q9Y2Y9 X5DNR2 UPI000012DEDC NM_015995.3 tolerated(0.27) benign(0) 1/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF21,mobidb-lite MODERATE 1 SNV 1 1 PASS CAC . . 31327345 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 44 24 7 33 33 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 DISP2 . GRCh38 chr15 40368052 40368052 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.1940A>C p.Tyr647Ser p.Y647S ENST00000267889 8/8 62 53 7 43 41 1 DISP2,missense_variant,p.Tyr647Ser,ENST00000267889,NM_033510.2;AC013356.4,downstream_gene_variant,,ENST00000558421,;DISP2,upstream_gene_variant,,ENST00000558623,;DISP2,upstream_gene_variant,,ENST00000561261,;DISP2,downstream_gene_variant,,ENST00000559721,;,regulatory_region_variant,,ENSR00000075508,; C ENSG00000140323 ENST00000267889 Transcript missense_variant 2027/12614 1940/4206 647/1401 Y/S tAc/tCc 1 1 DISP2 HGNC HGNC:19712 protein_coding YES CCDS10056.1 ENSP00000267889 A7MBM2 UPI0000160F9B NM_033510.2 deleterious(0.05) probably_damaging(0.964) 8/8 Gene3D:1.20.1640.10,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF58 MODERATE 1 SNV 1 PASS TAC . . 40368052 MINDY2 . GRCh38 chr15 58771550 58771550 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.155A>C p.Asn52Thr p.N52T ENST00000559228 1/9 67 53 13 44 44 0 MINDY2,missense_variant,p.Asn52Thr,ENST00000559228,NM_001040450.2;MINDY2,missense_variant,p.Asn52Thr,ENST00000450403,NM_001040453.2;AC090515.2,upstream_gene_variant,,ENST00000500929,;MINDY2,missense_variant,p.Asn52Thr,ENST00000316848,;MINDY2,missense_variant,p.Asn52Thr,ENST00000560289,;,regulatory_region_variant,,ENSR00000077260,; C ENSG00000128923 ENST00000559228 Transcript missense_variant 237/9238 155/1866 52/621 N/T aAt/aCt 1 1 MINDY2 HGNC HGNC:26954 protein_coding YES CCDS42046.1 ENSP00000452885 Q8NBR6 UPI0000D74C47 NM_001040450.2 deleterious_low_confidence(0.02) benign(0.021) 1/9 mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 2 PASS AAT . . 58771550 PDCD7 . GRCh38 chr15 65133490 65133490 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.292T>G p.Phe98Val p.F98V ENST00000204549 1/5 65 47 16 47 46 0 PDCD7,missense_variant,p.Phe98Val,ENST00000204549,NM_005707.1;PDCD7,upstream_gene_variant,,ENST00000560313,;,regulatory_region_variant,,ENSR00000078048,; C ENSG00000090470 ENST00000204549 Transcript missense_variant 347/2851 292/1458 98/485 F/V Ttc/Gtc 1 -1 PDCD7 HGNC HGNC:8767 protein_coding YES CCDS10201.1 ENSP00000204549 Q8N8D1 Q6IEG3 UPI00000731D7 NM_005707.1 tolerated(0.07) benign(0.07) 1/5 hmmpanther:PTHR44604,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAG . . 65133490 SKOR1 . GRCh38 chr15 67821965 67821965 + Missense_Mutation SNP A A C rs1287704859 7316-1784 BS_Q5ABAC4M A A c.65A>C p.Lys22Thr p.K22T ENST00000341418 2/15 62 51 9 48 48 0 SKOR1,missense_variant,p.Lys22Thr,ENST00000341418,NM_001258024.1;SKOR1,upstream_gene_variant,,ENST00000380035,;SKOR1,upstream_gene_variant,,ENST00000554054,;SKOR1,upstream_gene_variant,,ENST00000554240,; C ENSG00000188779 ENST00000341418 Transcript missense_variant 65/3332 65/2607 22/868 K/T aAa/aCa rs1287704859 1 1 SKOR1 HGNC HGNC:21326 protein_coding YES CCDS58374.1 ENSP00000343200 P84550 UPI00001987EE NM_001258024.1 deleterious_low_confidence(0) possibly_damaging(0.617) 2/15 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 2.316e-05 0.0003232 1.988e-05 67821965 MCRIP2 . GRCh38 chr16 647870 647870 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.398A>C p.Asn133Thr p.N133T ENST00000307650 4/5 41 28 11 26 25 0 MCRIP2,missense_variant,p.Asn133Thr,ENST00000307650,NM_138418.2;WDR90,upstream_gene_variant,,ENST00000293879,NM_145294.4;WDR90,upstream_gene_variant,,ENST00000549091,;MCRIP2,downstream_gene_variant,,ENST00000629534,;AL022341.1,downstream_gene_variant,,ENST00000455294,;MCRIP2,non_coding_transcript_exon_variant,,ENST00000615744,;MCRIP2,non_coding_transcript_exon_variant,,ENST00000611328,;MCRIP2,3_prime_UTR_variant,,ENST00000491999,;MCRIP2,3_prime_UTR_variant,,ENST00000474840,;MCRIP2,non_coding_transcript_exon_variant,,ENST00000619674,;MCRIP2,non_coding_transcript_exon_variant,,ENST00000575894,;MCRIP2,non_coding_transcript_exon_variant,,ENST00000620462,;WDR90,upstream_gene_variant,,ENST00000420061,;WDR90,upstream_gene_variant,,ENST00000549648,;WDR90,upstream_gene_variant,,ENST00000550593,;WDR90,upstream_gene_variant,,ENST00000552943,; C ENSG00000172366 ENST00000307650 Transcript missense_variant 577/946 398/483 133/160 N/T aAt/aCt 1 1 MCRIP2 HGNC HGNC:14142 protein_coding YES CCDS10415.1 ENSP00000305138 Q9BUT9 UPI0000073123 NM_138418.2 tolerated(0.09) benign(0.055) 4/5 hmmpanther:PTHR19890:SF9,hmmpanther:PTHR19890,Pfam_domain:PF14799 MODERATE 1 SNV 1 PASS AAT . . 647870 C1QTNF8 . GRCh38 chr16 1094807 1094807 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.116A>C p.Tyr39Ser p.Y39S ENST00000328449 3/5 51 40 9 47 47 0 C1QTNF8,missense_variant,p.Tyr39Ser,ENST00000328449,NM_207419.3;C1QTNF8,missense_variant,p.Tyr39Ser,ENST00000621771,;,regulatory_region_variant,,ENSR00000082294,; G ENSG00000184471 ENST00000328449 Transcript missense_variant 390/1627 116/759 39/252 Y/S tAt/tCt 1 -1 C1QTNF8 HGNC HGNC:31374 protein_coding YES CCDS32358.1 ENSP00000330426 P60827 UPI0000049307 NM_207419.3 tolerated(0.37) benign(0.012) 3/5 hmmpanther:PTHR22923,hmmpanther:PTHR22923:SF61 MODERATE 1 SNV 5 PASS ATA . . 1094807 TPSD1 . GRCh38 chr16 1256801 1256801 + Missense_Mutation SNP A A G rs2401930 7316-1784 BS_Q5ABAC4M A A c.259A>G p.Ile87Val p.I87V ENST00000211076 3/5 75 57 14 38 35 1 TPSD1,missense_variant,p.Ile87Val,ENST00000211076,NM_012217.2;TPSD1,missense_variant,p.Ile80Val,ENST00000397534,;AC120498.2,upstream_gene_variant,,ENST00000566997,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,; G ENSG00000095917 ENST00000211076 Transcript missense_variant 407/1499 259/729 87/242 I/V Atc/Gtc rs2401930,COSM3746393 1 1 TPSD1 HGNC HGNC:14118 protein_coding YES CCDS10432.1 ENSP00000211076 Q9BZJ3 UPI000007066B NM_012217.2 tolerated(0.34) benign(0.003) 3/5 cd00190,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF149 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 0.08384 0.03906 0.04493 0.07593 0.1317 0.2402 0.07173 0.08583 0.07917 1256801 TPSD1 . GRCh38 chr16 1256816 1256816 + Missense_Mutation SNP G G A rs3993983 7316-1784 BS_Q5ABAC4M G G c.274G>A p.Ala92Thr p.A92T ENST00000211076 3/5 72 57 15 35 33 1 TPSD1,missense_variant,p.Ala92Thr,ENST00000211076,NM_012217.2;TPSD1,missense_variant,p.Ala85Thr,ENST00000397534,;AC120498.2,upstream_gene_variant,,ENST00000566997,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,; A ENSG00000095917 ENST00000211076 Transcript missense_variant 422/1499 274/729 92/242 A/T Gcc/Acc rs3993983,COSM226769 1 1 TPSD1 HGNC HGNC:14118 protein_coding YES CCDS10432.1 ENSP00000211076 Q9BZJ3 UPI000007066B NM_012217.2 tolerated(0.7) benign(0.005) 3/5 cd00190,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF149 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.1151 0.05762 0.06024 0.09403 0.1901 0.2873 0.104 0.118 0.09926 1256816 HAGH . GRCh38 chr16 1826741 1826741 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.47T>G p.Leu16Arg p.L16R ENST00000397356 1/9 51 37 12 45 43 1 HAGH,missense_variant,p.Leu16Arg,ENST00000397356,NM_005326.4;HAGH,missense_variant,p.Leu16Arg,ENST00000455446,NM_001286249.1;HAGH,5_prime_UTR_variant,,ENST00000397353,NM_001040427.1;HAGH,5_prime_UTR_variant,,ENST00000569339,;HAGH,intron_variant,,ENST00000566709,;FAHD1,upstream_gene_variant,,ENST00000382666,NM_001018104.2;FAHD1,upstream_gene_variant,,ENST00000382668,NM_001142398.1;FAHD1,upstream_gene_variant,,ENST00000427358,NM_031208.3;HAGH,upstream_gene_variant,,ENST00000564445,;FAHD1,upstream_gene_variant,,ENST00000615972,;HAGH,non_coding_transcript_exon_variant,,ENST00000569700,;HAGH,non_coding_transcript_exon_variant,,ENST00000565097,;HAGH,non_coding_transcript_exon_variant,,ENST00000564518,;HAGH,upstream_gene_variant,,ENST00000567190,;,regulatory_region_variant,,ENSR00000082394,; C ENSG00000063854 ENST00000397356 Transcript missense_variant 454/2984 47/927 16/308 L/R cTg/cGg 1 -1 HAGH HGNC HGNC:4805 protein_coding YES CCDS10447.2 ENSP00000380514 Q16775 UPI00001FFAD0 NM_005326.4 deleterious_low_confidence(0.03) benign(0.231) 1/9 Low_complexity_(Seg):seg,hmmpanther:PTHR11935:SF80,hmmpanther:PTHR11935 MODERATE 1 SNV 1 1 PASS CAG . . 1826741 CASKIN1 . GRCh38 chr16 2180100 2180100 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.3268T>G p.Phe1090Val p.F1090V ENST00000343516 18/20 43 32 5 48 47 0 CASKIN1,missense_variant,p.Phe1090Val,ENST00000343516,NM_020764.3;TRAF7,downstream_gene_variant,,ENST00000326181,NM_032271.2;CASKIN1,downstream_gene_variant,,ENST00000564289,;TRAF7,downstream_gene_variant,,ENST00000570169,; C ENSG00000167971 ENST00000343516 Transcript missense_variant 3361/5759 3268/4296 1090/1431 F/V Ttt/Gtt 1 -1 CASKIN1 HGNC HGNC:20879 protein_coding YES CCDS42103.1 ENSP00000345436 Q8WXD9 UPI0000073A3B NM_020764.3 deleterious(0.03) benign(0.003) 18/20 hmmpanther:PTHR24177,hmmpanther:PTHR24177:SF12,mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 2180100 FBRS . GRCh38 chr16 30669301 30669301 + Missense_Mutation SNP T T G rs755792661 7316-1784 BS_Q5ABAC4M T T c.2599T>G p.Phe867Val p.F867V ENST00000356166 18/18 58 47 8 40 40 0 FBRS,missense_variant,p.Phe867Val,ENST00000356166,NM_001105079.2;FBRS,missense_variant,p.Phe347Val,ENST00000287468,;FBRS,downstream_gene_variant,,ENST00000482749,;FBRS,3_prime_UTR_variant,,ENST00000543786,;FBRS,non_coding_transcript_exon_variant,,ENST00000494101,;FBRS,downstream_gene_variant,,ENST00000570170,; G ENSG00000156860 ENST00000356166 Transcript missense_variant 3687/5200 2599/2943 867/980 F/V Ttt/Gtt rs755792661 1 1 FBRS HGNC HGNC:20442 protein_coding YES CCDS45462.2 ENSP00000348489 J3KNZ9 UPI0000E59D83 NM_001105079.2 deleterious_low_confidence(0.01) benign(0.015) 18/18 Low_complexity_(Seg):seg,hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF24 MODERATE 1 SNV 5 PASS GTT . . 30669301 SLC5A2 . GRCh38 chr16 31487392 31487392 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.647T>G p.Met216Arg p.M216R ENST00000330498 6/14 65 52 9 27 27 0 SLC5A2,missense_variant,p.Met216Arg,ENST00000330498,NM_003041.3;C16orf58,downstream_gene_variant,,ENST00000327237,NM_022744.3;C16orf58,downstream_gene_variant,,ENST00000430477,;C16orf58,downstream_gene_variant,,ENST00000567994,;SLC5A2,downstream_gene_variant,,ENST00000569576,;C16orf58,downstream_gene_variant,,ENST00000570164,;AC026471.3,non_coding_transcript_exon_variant,,ENST00000565137,;SLC5A2,upstream_gene_variant,,ENST00000564197,;SLC5A2,upstream_gene_variant,,ENST00000567051,;SLC5A2,missense_variant,p.Met216Arg,ENST00000419665,;SLC5A2,downstream_gene_variant,,ENST00000562006,;SLC5A2,downstream_gene_variant,,ENST00000565446,;SLC5A2,upstream_gene_variant,,ENST00000568188,;C16orf58,downstream_gene_variant,,ENST00000568491,;SLC5A2,upstream_gene_variant,,ENST00000568891,; G ENSG00000140675 ENST00000330498 Transcript missense_variant 666/2271 647/2019 216/672 M/R aTg/aGg 1 1 SLC5A2 HGNC HGNC:11037 protein_coding YES CCDS10714.1 ENSP00000327943 P31639 UPI000004D0A0 NM_003041.3 deleterious(0.01) benign(0.077) 6/14 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,cd11487,hmmpanther:PTHR11819:SF145,hmmpanther:PTHR11819,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474 MODERATE 1 SNV 1 1 PASS ATG . . 31487392 CARMIL2 . GRCh38 chr16 67647924 67647924 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.1037A>C p.Asn346Thr p.N346T ENST00000334583 13/38 63 50 11 39 38 0 CARMIL2,missense_variant,p.Asn346Thr,ENST00000334583,NM_001013838.1;CARMIL2,missense_variant,p.Asn346Thr,ENST00000545661,NM_001317026.1;CARMIL2,non_coding_transcript_exon_variant,,ENST00000602321,;CARMIL2,non_coding_transcript_exon_variant,,ENST00000602742,;CARMIL2,downstream_gene_variant,,ENST00000602467,;CARMIL2,upstream_gene_variant,,ENST00000602562,;CARMIL2,downstream_gene_variant,,ENST00000602563,;CARMIL2,upstream_gene_variant,,ENST00000602633,;CARMIL2,upstream_gene_variant,,ENST00000602931,;,regulatory_region_variant,,ENSR00000087162,; C ENSG00000159753 ENST00000334583 Transcript missense_variant 1365/4687 1037/4308 346/1435 N/T aAt/aCt 1 1 CARMIL2 HGNC HGNC:27089 protein_coding YES CCDS45513.1 ENSP00000334958 Q6F5E8 UPI00005194F2 NM_001013838.1 deleterious(0) probably_damaging(0.989) 13/38 hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF32,Gene3D:3.80.10.10,Superfamily_domains:SSF52047 MODERATE 1 SNV 1 PASS AAT . . 67647924 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 47 36 9 37 37 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 GSE1 . GRCh38 chr16 85654972 85654972 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.778T>G p.Phe260Val p.F260V ENST00000253458 5/16 63 40 13 41 40 0 GSE1,missense_variant,p.Phe260Val,ENST00000253458,NM_014615.3;GSE1,missense_variant,p.Phe187Val,ENST00000393243,NM_001278184.1;GSE1,missense_variant,p.Phe67Val,ENST00000412692,;GSE1,missense_variant,p.Phe156Val,ENST00000405402,NM_001134473.2;GSE1,missense_variant,p.Phe156Val,ENST00000411612,;GSE1,downstream_gene_variant,,ENST00000635906,;RN7SL381P,upstream_gene_variant,,ENST00000577658,; G ENSG00000131149 ENST00000253458 Transcript missense_variant 954/7495 778/3654 260/1217 F/V Ttc/Gtc 1 1 GSE1 HGNC HGNC:28979 protein_coding YES CCDS10952.1 ENSP00000253458 Q14687 UPI0000185F04 NM_014615.3 deleterious(0.04) benign(0.101) 5/16 Gene3D:1.20.1000.10,hmmpanther:PTHR17608 MODERATE 1 SNV 5 PASS CTT . . 85654972 FOXC2 . GRCh38 chr16 86568129 86568129 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.794A>C p.Asn265Thr p.N265T ENST00000320354 1/1 43 34 6 33 33 0 FOXC2,missense_variant,p.Asn265Thr,ENST00000320354,NM_005251.2;FOXC2-AS1,upstream_gene_variant,,ENST00000563280,;,regulatory_region_variant,,ENSR00000089180,; C ENSG00000176692 ENST00000320354 Transcript missense_variant 879/2478 794/1506 265/501 N/T aAc/aCc 1 1 FOXC2 HGNC HGNC:3801 protein_coding YES CCDS10958.1 ENSP00000326371 Q99958 UPI000012ADC6 NM_005251.2 tolerated(0.13) benign(0.026) 1/1 mobidb-lite,hmmpanther:PTHR11829:SF189,hmmpanther:PTHR11829 MODERATE SNV 1 PASS AAC . . 86568129 SHISA6 . GRCh38 chr17 11241621 11241621 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.199A>C p.Ile67Leu p.I67L ENST00000441885 1/6 44 34 8 53 52 0 SHISA6,missense_variant,p.Ile67Leu,ENST00000441885,NM_207386.3;SHISA6,missense_variant,p.Ile67Leu,ENST00000432116,NM_001173462.1;SHISA6,missense_variant,p.Ile67Leu,ENST00000409168,NM_001173461.1;SHISA6,upstream_gene_variant,,ENST00000343478,; C ENSG00000188803 ENST00000441885 Transcript missense_variant 359/7575 199/1656 67/551 I/L Atc/Ctc 1 1 SHISA6 HGNC HGNC:34491 protein_coding YES CCDS45615.1 ENSP00000390084 Q6ZSJ9 UPI000183CBD8 NM_207386.3 tolerated_low_confidence(0.63) benign(0) 1/6 hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0,mobidb-lite MODERATE 1 SNV 5 PASS AAT . . 11241621 KRTAP16-1 . GRCh38 chr17 41308992 41308992 + Missense_Mutation SNP C C A rs765617324 7316-1784 BS_Q5ABAC4M C C c.262G>T p.Gly88Cys p.G88C ENST00000391352 1/1 84 74 7 48 46 0 KRTAP16-1,missense_variant,p.Gly88Cys,ENST00000391352,NM_001146182.1;,regulatory_region_variant,,ENSR00000094210,; A ENSG00000212657 ENST00000391352 Transcript missense_variant 262/1554 262/1554 88/517 G/C Ggc/Tgc rs765617324 1 -1 KRTAP16-1 HGNC HGNC:18916 protein_coding YES CCDS56032.1 ENSP00000375147 A8MUX0 UPI000015FD61 NM_001146182.1 tolerated(1) benign(0) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF55 MODERATE 1 SNV PASS CCG . . 1.402e-05 8.918e-05 41308992 WNK4 . GRCh38 chr17 42784029 42784029 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.884T>G p.Val295Gly p.V295G ENST00000246914 3/19 74 51 19 34 32 0 WNK4,missense_variant,p.Val295Gly,ENST00000246914,NM_001321299.1,NM_032387.4;VPS25,downstream_gene_variant,,ENST00000253794,NM_032353.3;VPS25,downstream_gene_variant,,ENST00000589520,;WNK4,upstream_gene_variant,,ENST00000587705,;WNK4,missense_variant,p.Val295Gly,ENST00000591448,;WNK4,non_coding_transcript_exon_variant,,ENST00000592669,;WNK4,upstream_gene_variant,,ENST00000592072,; G ENSG00000126562 ENST00000246914 Transcript missense_variant 905/4001 884/3732 295/1243 V/G gTt/gGt 1 1 WNK4 HGNC HGNC:14544 protein_coding YES CCDS11439.1 ENSP00000246914 Q96J92 UPI000006FC0F NM_001321299.1,NM_032387.4 deleterious(0) possibly_damaging(0.636) 3/19 PROSITE_profiles:PS50011,cd14033,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF12,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 1 PASS GTT . . 42784029 COPZ2 . GRCh38 chr17 48037664 48037664 + Splice_Region SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.111+3A>C ENST00000621465 46 27 6 39 37 0 COPZ2,splice_region_variant,,ENST00000621465,NM_016429.3;COPZ2,intron_variant,,ENST00000580174,;COPZ2,upstream_gene_variant,,ENST00000579263,;COPZ2,upstream_gene_variant,,ENST00000581756,;MIR152,upstream_gene_variant,,ENST00000385212,;COPZ2,splice_region_variant,,ENST00000612370,;COPZ2,upstream_gene_variant,,ENST00000581637,;COPZ2,upstream_gene_variant,,ENST00000583414,;COPZ2,upstream_gene_variant,,ENST00000584955,;,regulatory_region_variant,,ENSR00000095266,; G ENSG00000005243 ENST00000621465 Transcript splice_region_variant,intron_variant 1 -1 COPZ2 HGNC HGNC:19356 protein_coding YES CCDS74092.1 ENSP00000480707 Q9P299 UPI000012818E NM_016429.3 1/8 LOW 1 SNV 1 PASS GTA . . 48037664 ITGB4 . GRCh38 chr17 75730308 75730308 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.806A>C p.Tyr269Ser p.Y269S ENST00000200181 8/40 57 50 7 37 37 0 ITGB4,missense_variant,p.Tyr269Ser,ENST00000200181,NM_000213.4;ITGB4,missense_variant,p.Tyr269Ser,ENST00000449880,NM_001005619.1;ITGB4,missense_variant,p.Tyr269Ser,ENST00000450894,NM_001005731.2;ITGB4,missense_variant,p.Tyr269Ser,ENST00000579662,NM_001321123.1;ITGB4,intron_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,upstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000580542,; C ENSG00000132470 ENST00000200181 Transcript missense_variant 993/5919 806/5469 269/1822 Y/S tAt/tCt 1 1 ITGB4 HGNC HGNC:6158 protein_coding YES CCDS11727.1 ENSP00000200181 P16144 A0A024R8T0 UPI00001AE5C0 NM_000213.4 deleterious(0.02) probably_damaging(1) 8/40 Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002513,Prints_domain:PR01186,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF42,SMART_domains:SM00187,Superfamily_domains:SSF53300 MODERATE 1 SNV 1 1 PASS TAT . . 75730308 POTEC . GRCh38 chr18 14543040 14543040 + Missense_Mutation SNP T T C rs45570841 7316-1784 BS_Q5ABAC4M T T c.107A>G p.Lys36Arg p.K36R ENST00000358970 1/11 62 49 7 34 33 1 POTEC,missense_variant,p.Lys36Arg,ENST00000620346,;POTEC,missense_variant,p.Lys36Arg,ENST00000358970,NM_001137671.1;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,missense_variant,p.Lys36Arg,ENST00000511306,; C ENSG00000183206 ENST00000358970 Transcript missense_variant 107/1629 107/1629 36/542 K/R aAg/aGg rs45570841,COSM4594500 1 -1 POTEC HGNC HGNC:33894 protein_coding YES CCDS45835.1 ENSP00000351856 B2RU33 UPI0000197B83 NM_001137671.1 tolerated_low_confidence(1) benign(0) 1/11 hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 0,1 MODERATE 1 SNV 1 0,1 PASS CTT . . 0.0009915 0.0002798 0.0005869 0.0004537 0.0004868 0.003907 0.0009696 0.0008214 0.0003689 14543040 MEX3D . GRCh38 chr19 1556233 1556233 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.1286A>C p.Asn429Thr p.N429T ENST00000402693 2/2 59 48 8 49 48 0 MEX3D,missense_variant,p.Asn429Thr,ENST00000402693,NM_203304.3;MEX3D,missense_variant,p.Asn253Thr,ENST00000605173,NM_001174118.1;,regulatory_region_variant,,ENSR00000105712,; G ENSG00000181588 ENST00000402693 Transcript missense_variant 1286/2850 1286/1956 429/651 N/T aAc/aCc 1 -1 MEX3D HGNC HGNC:16734 protein_coding YES CCDS32865.2 ENSP00000384398 Q86XN8 UPI000059D61B NM_203304.3 tolerated(0.27) benign(0.054) 2/2 hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 1556233 PLIN4 . GRCh38 chr19 4511201 4511201 + Missense_Mutation SNP C C G rs758375058 7316-1784 BS_Q5ABAC4M C C c.2717G>C p.Ser906Thr p.S906T ENST00000301286 3/6 70 57 10 63 62 1 PLIN4,missense_variant,p.Ser921Thr,ENST00000633942,;PLIN4,missense_variant,p.Ser906Thr,ENST00000301286,NM_001080400.1; G ENSG00000167676 ENST00000301286 Transcript missense_variant 2717/6353 2717/4074 906/1357 S/T aGc/aCc rs758375058,COSM6292231,COSM6292230 1 -1 PLIN4 HGNC HGNC:29393 protein_coding YES CCDS45927.1 ENSP00000301286 Q96Q06 UPI00001D822A NM_001080400.1 tolerated(1) benign(0) 3/6 Gene3D:1.20.120.20,hmmpanther:PTHR14024,hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF31,hmmpanther:PTHR14024:SF31 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCT . . 3.507e-05 0.0003685 8.394e-05 3.911e-05 4511201 TRIP10 . GRCh38 chr19 6746054 6746054 + Missense_Mutation SNP T T G 7316-1784 BS_Q5ABAC4M T T c.1010T>G p.Leu337Arg p.L337R ENST00000313244 10/15 39 27 6 22 19 0 TRIP10,missense_variant,p.Leu337Arg,ENST00000313244,NM_001288962.1;TRIP10,intron_variant,,ENST00000313285,NM_004240.3;TRIP10,intron_variant,,ENST00000596758,NM_001288963.1;TRIP10,intron_variant,,ENST00000600428,;TRIP10,downstream_gene_variant,,ENST00000596673,;AC008760.1,downstream_gene_variant,,ENST00000594056,;TRIP10,downstream_gene_variant,,ENST00000596543,;TRIP10,downstream_gene_variant,,ENST00000601303,;TRIP10,intron_variant,,ENST00000595305,;TRIP10,intron_variant,,ENST00000600677,;TRIP10,downstream_gene_variant,,ENST00000595319,;TRIP10,downstream_gene_variant,,ENST00000596078,;TRIP10,upstream_gene_variant,,ENST00000598843,;TRIP10,downstream_gene_variant,,ENST00000600491,; G ENSG00000125733 ENST00000313244 Transcript missense_variant 1045/2153 1010/1806 337/601 L/R cTg/cGg COSM6390547 1 1 TRIP10 HGNC HGNC:12304 protein_coding YES CCDS74271.1 ENSP00000320117 Q15642 UPI000006DB86 NM_001288962.1 tolerated(0.41) benign(0.403) 10/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR43990:SF2,hmmpanther:PTHR43990,Gene3D:1.20.58.60 1 MODERATE 1 SNV 1 1 PASS CTG . . 6746054 PIK3R2 . GRCh38 chr19 18161429 18161429 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.749T>G p.Phe250Cys p.F250C ENST00000222254 6/16 56 41 10 33 32 0 PIK3R2,missense_variant,p.Phe250Cys,ENST00000222254,NM_005027.3;PIK3R2,missense_variant,p.Phe250Cys,ENST00000617130,;PIK3R2,missense_variant,p.Phe250Cys,ENST00000617642,;AC007192.1,missense_variant,p.Phe250Cys,ENST00000593731,;PIK3R2,missense_variant,p.Phe250Cys,ENST00000426902,;PIK3R2,non_coding_transcript_exon_variant,,ENST00000474310,;PIK3R2,upstream_gene_variant,,ENST00000464016,;PIK3R2,upstream_gene_variant,,ENST00000600533,;,regulatory_region_variant,,ENSR00000108023,;,TF_binding_site_variant,,MA0139.1,;,TF_binding_site_variant,,MA0531.1,; G ENSG00000105647 ENST00000222254 Transcript missense_variant 1349/4033 749/2187 250/728 F/C tTt/tGt 1 1 PIK3R2 HGNC HGNC:8980 protein_coding YES CCDS12371.1 ENSP00000222254 O00459 UPI000006EF95 NM_005027.3 deleterious(0) possibly_damaging(0.87) 6/16 PDB-ENSP_mappings:2xs6.A,PROSITE_profiles:PS50238,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF1,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350 MODERATE 1 SNV 1 1 PASS TTT . . 18161429 ZNF737 . GRCh38 chr19 20545279 20545279 + Missense_Mutation SNP G G T 7316-1784 BS_Q5ABAC4M G G c.924C>A p.Ser308Arg p.S308R ENST00000427401 4/4 69 52 8 49 48 0 ZNF737,missense_variant,p.Ser308Arg,ENST00000427401,NM_001159293.1;ZNF737,downstream_gene_variant,,ENST00000594419,;ZNF737,upstream_gene_variant,,ENST00000596530,;ZNF737,downstream_gene_variant,,ENST00000597940,; T ENSG00000237440 ENST00000427401 Transcript missense_variant 1019/2867 924/1611 308/536 S/R agC/agA COSM4341781,COSM3102307 1 -1 ZNF737 HGNC HGNC:32468 protein_coding YES CCDS54238.1 ENSP00000395733 O75373 UPI0000198506 NM_001159293.1 deleterious(0) benign(0.381) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,hmmpanther:PTHR24384,Gene3D:2.30.30.380,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 2 1,1 PASS CGC . . 20545279 ZNF430 . GRCh38 chr19 21057737 21057737 + Missense_Mutation SNP G G T 7316-1784 BS_Q5ABAC4M G G c.1429G>T p.Val477Leu p.V477L ENST00000261560 5/5 68 46 11 40 37 0 ZNF430,missense_variant,p.Val477Leu,ENST00000261560,NM_001172671.1,NM_025189.3;ZNF430,upstream_gene_variant,,ENST00000597922,;ZNF430,downstream_gene_variant,,ENST00000599548,; T ENSG00000118620 ENST00000261560 Transcript missense_variant 1610/3923 1429/1713 477/570 V/L Gta/Tta COSM349536 1 1 ZNF430 HGNC HGNC:20808 protein_coding YES CCDS32978.1 ENSP00000261560 Q9H8G1 UPI000020389E NM_001172671.1,NM_025189.3 tolerated(0.16) benign(0.015) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF131,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS GGT . . 21057737 ZNF708 . GRCh38 chr19 21293816 21293816 + Missense_Mutation SNP C C A 7316-1784 BS_Q5ABAC4M C C c.1150G>T p.Val384Leu p.V384L ENST00000356929 4/4 63 45 9 52 51 0 ZNF708,missense_variant,p.Val384Leu,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; A ENSG00000182141 ENST00000356929 Transcript missense_variant 1348/4004 1150/1692 384/563 V/L Gta/Tta COSM1189973 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 tolerated(0.25) benign(0.041) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS ACC . . 21293816 ZNF493 . GRCh38 chr19 21424893 21424893 + Missense_Mutation SNP C C A rs201920955 7316-1784 BS_Q5ABAC4M C C c.2234C>A p.Ala745Glu p.A745E ENST00000392288 4/4 59 48 8 45 44 1 ZNF493,missense_variant,p.Ala745Glu,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.Ala617Glu,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;AC010615.4,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,; A ENSG00000196268 ENST00000392288 Transcript missense_variant 2343/5023 2234/2325 745/774 A/E gCa/gAa rs201920955,COSM1680840,COSM1680839 1 1 ZNF493 HGNC HGNC:23708 protein_coding YES CCDS42536.1 ENSP00000376110 Q6ZR52 UPI000022ABBF NM_001076678.2 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,PIRSF_domain:PIRSF013212,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GCA . . 21424893 ZNF429 . GRCh38 chr19 21537609 21537609 + Missense_Mutation SNP T T A rs878991601 7316-1784 BS_Q5ABAC4M T T c.1556T>A p.Ile519Asn p.I519N ENST00000358491 4/4 68 53 8 41 39 0 ZNF429,missense_variant,p.Ile519Asn,ENST00000358491,NM_001001415.2;ZNF429,missense_variant,p.Ile488Asn,ENST00000618549,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,; A ENSG00000197013 ENST00000358491 Transcript missense_variant 1764/2233 1556/2025 519/674 I/N aTc/aAc rs878991601,COSM5855236 1 1 ZNF429 HGNC HGNC:20817 protein_coding YES CCDS42537.1 ENSP00000351280 Q86V71 UPI000022ABC2 NM_001001415.2 tolerated(1) benign(0.005) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 3 0,1 1 PASS ATC . . 4.091e-06 0.0001835 21537609 ZNF100 . GRCh38 chr19 21726932 21726932 + Missense_Mutation SNP G G T rs533592689 7316-1784 BS_Q5ABAC4M G G c.1380C>A p.Asp460Glu p.D460E ENST00000358296 5/5 54 45 8 44 43 1 ZNF100,missense_variant,p.Asp460Glu,ENST00000358296,NM_173531.3;ZNF100,missense_variant,p.Asp396Glu,ENST00000305570,;ZNF100,missense_variant,p.Asp459Glu,ENST00000608416,;ZNF100,downstream_gene_variant,,ENST00000594401,; T ENSG00000197020 ENST00000358296 Transcript missense_variant 1579/5745 1380/1629 460/542 D/E gaC/gaA rs533592689,COSM5855238 1 -1 ZNF100 HGNC HGNC:12880 protein_coding YES CCDS42538.1 ENSP00000351042 Q8IYN0 UPI00001614AC NM_173531.3 tolerated(1) benign(0) 5/5 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 4.153e-06 0.0001028 21726932 ZNF724 . GRCh38 chr19 23222501 23222501 + Missense_Mutation SNP C C A 7316-1784 BS_Q5ABAC4M C C c.1744G>T p.Val582Leu p.V582L ENST00000418100 4/4 64 51 5 44 43 0 ZNF724,missense_variant,p.Val582Leu,ENST00000418100,NM_001355404.1,NM_001355406.1,NM_001355405.1;ZNF724,downstream_gene_variant,,ENST00000597537,;AC092329.3,downstream_gene_variant,,ENST00000611392,; A ENSG00000196081 ENST00000418100 Transcript missense_variant 1862/2764 1744/1860 582/619 V/L Gta/Tta COSM5571657,COSM5571656 1 -1 ZNF724 HGNC HGNC:32460 protein_coding YES ENSP00000413411 A8MTY0 UPI0000EE61E4 NM_001355404.1,NM_001355406.1,NM_001355405.1 tolerated(0.45) benign(0.052) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 2 1,1 PASS ACC . . 23222501 ZNF724 . GRCh38 chr19 23223605 23223605 + Missense_Mutation SNP A A T novel 7316-1784 BS_Q5ABAC4M A A c.640T>A p.Ser214Thr p.S214T ENST00000418100 4/4 70 59 10 46 46 0 ZNF724,missense_variant,p.Ser214Thr,ENST00000418100,NM_001355404.1,NM_001355406.1,NM_001355405.1;AC092329.3,missense_variant,p.Ser208Thr,ENST00000611392,;ZNF724,downstream_gene_variant,,ENST00000597537,; T ENSG00000196081 ENST00000418100 Transcript missense_variant 758/2764 640/1860 214/619 S/T Tct/Act 1 -1 ZNF724 HGNC HGNC:32460 protein_coding YES ENSP00000413411 A8MTY0 UPI0000EE61E4 NM_001355404.1,NM_001355406.1,NM_001355405.1 tolerated(1) benign(0.189) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GAA . . 23223605 DYRK1B . GRCh38 chr19 39833265 39833265 + Splice_Site SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.-102+2T>G ENST00000593685 48 38 7 38 37 0 DYRK1B,splice_donor_variant,,ENST00000593685,;DYRK1B,intron_variant,,ENST00000323039,NM_004714.2;DYRK1B,intron_variant,,ENST00000348817,NM_006484.2;DYRK1B,intron_variant,,ENST00000430012,NM_006483.2;DYRK1B,intron_variant,,ENST00000600611,;DYRK1B,intron_variant,,ENST00000601972,;FBL,downstream_gene_variant,,ENST00000221801,NM_001436.3;FBL,downstream_gene_variant,,ENST00000595545,;FBL,downstream_gene_variant,,ENST00000597224,;FBL,downstream_gene_variant,,ENST00000597634,;DYRK1B,upstream_gene_variant,,ENST00000597639,;FBL,downstream_gene_variant,,ENST00000598417,;FBL,downstream_gene_variant,,ENST00000601274,;MIR6719,upstream_gene_variant,,ENST00000622428,;FBL,downstream_gene_variant,,ENST00000593503,;FBL,downstream_gene_variant,,ENST00000594443,;FBL,downstream_gene_variant,,ENST00000599159,;DYRK1B,upstream_gene_variant,,ENST00000601696,;,regulatory_region_variant,,ENSR00000109449,; C ENSG00000105204 ENST00000593685 Transcript splice_donor_variant 1 -1 DYRK1B HGNC HGNC:3092 protein_coding YES CCDS12543.1 ENSP00000469863 Q9Y463 A0A024R0I0 UPI0000001059 1/10 HIGH SNV 5 1 PASS TAC . . 39833265 ZNF546 . GRCh38 chr19 40014854 40014854 + Missense_Mutation SNP C C A 7316-1784 BS_Q5ABAC4M C C c.1584C>A p.Asn528Lys p.N528K ENST00000347077 7/7 73 62 9 64 60 0 ZNF546,missense_variant,p.Asn528Lys,ENST00000347077,NM_178544.4;ZNF546,missense_variant,p.Asn502Lys,ENST00000600094,NM_001297763.1;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000599504,;ZNF546,downstream_gene_variant,,ENST00000601138,; A ENSG00000187187 ENST00000347077 Transcript missense_variant 1800/7987 1584/2511 528/836 N/K aaC/aaA COSM4581033 1 1 ZNF546 HGNC HGNC:28671 protein_coding YES CCDS12548.1 ENSP00000339823 Q86UE3 UPI00001984E3 NM_178544.4 tolerated(1) benign(0) 7/7 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS ACG . . 40014854 NPAS1 . GRCh38 chr19 47045607 47045607 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.1729T>G p.Tyr577Asp p.Y577D ENST00000602212 12/12 58 46 10 40 39 0 NPAS1,missense_variant,p.Tyr577Asp,ENST00000602212,NM_002517.3;NPAS1,missense_variant,p.Tyr577Asp,ENST00000449844,;NPAS1,missense_variant,p.Tyr402Asp,ENST00000602189,;NPAS1,3_prime_UTR_variant,,ENST00000439365,NM_001321086.1;TMEM160,downstream_gene_variant,,ENST00000253047,NM_017854.1;NPAS1,downstream_gene_variant,,ENST00000594670,;NPAS1,downstream_gene_variant,,ENST00000594257,;NPAS1,downstream_gene_variant,,ENST00000600352,;NPAS1,downstream_gene_variant,,ENST00000601169,; G ENSG00000130751 ENST00000602212 Transcript missense_variant 1949/2117 1729/1773 577/590 Y/D Tac/Gac 1 1 NPAS1 HGNC HGNC:7894 protein_coding YES CCDS12694.1 ENSP00000469142 Q99742 UPI0000073CD1 NM_002517.3 deleterious_low_confidence(0) benign(0.001) 12/12 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTA . . 47045607 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 48 30 11 41 40 0 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 SHANK1 . GRCh38 chr19 50668398 50668398 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.3562A>C p.Thr1188Pro p.T1188P ENST00000293441 22/23 49 30 12 34 32 0 SHANK1,missense_variant,p.Thr1188Pro,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Thr1196Pro,ENST00000391814,;SHANK1,missense_variant,p.Thr1179Pro,ENST00000359082,;SHANK1,missense_variant,p.Thr575Pro,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,; G ENSG00000161681 ENST00000293441 Transcript missense_variant 3581/6643 3562/6486 1188/2161 T/P Acg/Ccg 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 tolerated(0.28) benign(0) 22/23 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3 MODERATE 1 SNV 1 1 PASS GTG . . 50668398 ZNF534 . GRCh38 chr19 52439054 52439054 + Missense_Mutation SNP C C A 7316-1784 BS_Q5ABAC4M C C c.1633C>A p.Arg545Ser p.R545S ENST00000332323 4/4 59 46 11 40 39 0 ZNF534,missense_variant,p.Arg545Ser,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Arg532Ser,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1; A ENSG00000198633 ENST00000332323 Transcript missense_variant 1694/2086 1633/2025 545/674 R/S Cgt/Agt COSM6003996,COSM1481436,COSM1234220 1 1 ZNF534 HGNC HGNC:26337 protein_coding YES CCDS46165.1 ENSP00000327538 Q76KX8 UPI0000351984 NM_001143939.1 tolerated(1) benign(0.013) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF187,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1,1 MODERATE 1 SNV 1 1,1,1 PASS CCG . . 52439054 ZNF600 . GRCh38 chr19 52766002 52766002 + Missense_Mutation SNP G G T novel 7316-1784 BS_Q5ABAC4M G G c.1754C>A p.Thr585Lys p.T585K ENST00000338230 3/3 57 51 6 48 47 0 ZNF600,missense_variant,p.Thr585Lys,ENST00000338230,NM_198457.3,NM_001321867.1; T ENSG00000189190 ENST00000338230 Transcript missense_variant 2022/3829 1754/2169 585/722 T/K aCg/aAg 1 -1 ZNF600 HGNC HGNC:30951 protein_coding YES CCDS12856.1 ENSP00000344791 Q6ZNG1 UPI0000366E5E NM_198457.3,NM_001321867.1 tolerated(0.08) benign(0.003) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,PROSITE_patterns:PS00028,Gene3D:2.30.30.380,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CGT . . 52766002 PPP6R1 . GRCh38 chr19 55245136 55245136 + Missense_Mutation SNP G G A rs1011277098 7316-1784 BS_Q5ABAC4M G G c.602C>T p.Pro201Leu p.P201L ENST00000412770 5/24 74 59 12 46 46 0 PPP6R1,missense_variant,p.Pro201Leu,ENST00000412770,NM_014931.3;PPP6R1,missense_variant,p.Pro201Leu,ENST00000587283,;PPP6R1,downstream_gene_variant,,ENST00000592242,;MIR6803,downstream_gene_variant,,ENST00000615997,;PPP6R1,upstream_gene_variant,,ENST00000591323,;PPP6R1,upstream_gene_variant,,ENST00000591602,; A ENSG00000105063 ENST00000412770 Transcript missense_variant 1169/3961 602/2646 201/881 P/L cCg/cTg rs1011277098,COSM5856795,COSM5856794 1 -1 PPP6R1 HGNC HGNC:29195 protein_coding YES CCDS46186.1 ENSP00000414202 Q9UPN7 UPI0000202C6D NM_014931.3 deleterious(0) probably_damaging(0.992) 5/24 Pfam_domain:PF04499,hmmpanther:PTHR12634,hmmpanther:PTHR12634:SF13,Superfamily_domains:SSF48371 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGG . . 1.225e-05 8.999e-06 6.545e-05 55245136 ZNF583 . GRCh38 chr19 56423807 56423807 + Missense_Mutation SNP G G T novel 7316-1784 BS_Q5ABAC4M G G c.1149G>T p.Lys383Asn p.K383N ENST00000333201 5/5 62 47 8 37 36 0 ZNF583,missense_variant,p.Lys383Asn,ENST00000333201,NM_001159861.1,NM_152478.2;ZNF583,missense_variant,p.Lys383Asn,ENST00000291598,NM_001159860.1;ZNF583,downstream_gene_variant,,ENST00000391778,;ZNF583,downstream_gene_variant,,ENST00000537943,;ZNF583,splice_region_variant,,ENST00000585612,; T ENSG00000198440 ENST00000333201 Transcript missense_variant 1359/4916 1149/1710 383/569 K/N aaG/aaT 1 1 ZNF583 HGNC HGNC:26427 protein_coding YES CCDS12943.1 ENSP00000388502 Q96ND8 UPI000013E700 NM_001159861.1,NM_152478.2 tolerated(0.53) probably_damaging(0.96) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF637,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS AGG . . 56423807 MZF1 . GRCh38 chr19 58562327 58562327 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.1950A>C p.Glu650Asp p.E650D ENST00000215057 6/6 61 45 7 29 28 0 MZF1,missense_variant,p.Glu650Asp,ENST00000215057,NM_198055.1;MZF1,missense_variant,p.Glu650Asp,ENST00000599369,NM_003422.2;MZF1,3_prime_UTR_variant,,ENST00000594234,NM_001267033.1;UBE2M,upstream_gene_variant,,ENST00000253023,NM_003969.3;UBE2M,upstream_gene_variant,,ENST00000595957,;MZF1-AS1,intron_variant,,ENST00000593642,;MZF1-AS1,intron_variant,,ENST00000600534,;MZF1-AS1,intron_variant,,ENST00000600726,;MZF1,non_coding_transcript_exon_variant,,ENST00000600004,;,regulatory_region_variant,,ENSR00000111892,; G ENSG00000099326 ENST00000215057 Transcript missense_variant 2511/2905 1950/2205 650/734 E/D gaA/gaC 1 -1 MZF1 HGNC HGNC:13108 protein_coding YES CCDS12988.1 ENSP00000215057 P28698 A0A024R4T5 UPI0000072863 NM_198055.1 tolerated(0.05) benign(0.053) 6/6 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF2,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GTT . . 58562327 CPXM1 . GRCh38 chr20 2798266 2798266 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.476A>C p.Tyr159Ser p.Y159S ENST00000380605 4/14 52 45 7 39 37 1 CPXM1,missense_variant,p.Tyr159Ser,ENST00000380605,NM_019609.4,NM_001184699.1; G ENSG00000088882 ENST00000380605 Transcript missense_variant 541/2391 476/2205 159/734 Y/S tAt/tCt 1 -1 CPXM1 HGNC HGNC:15771 protein_coding YES CCDS13033.1 ENSP00000369979 Q96SM3 UPI0000039DD0 NM_019609.4,NM_001184699.1 deleterious(0) benign(0.305) 4/14 Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_profiles:PS50022,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF45,SMART_domains:SM00231,Superfamily_domains:SSF49785,cd00057 MODERATE 1 SNV 1 PASS ATA . . 2798266 NKX2-4 . GRCh38 chr20 21397176 21397176 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.224A>C p.Asn75Thr p.N75T ENST00000351817 1/2 55 46 8 31 29 2 NKX2-4,missense_variant,p.Asn75Thr,ENST00000351817,NM_033176.1;AL158013.1,upstream_gene_variant,,ENST00000419666,;AL158013.1,upstream_gene_variant,,ENST00000552439,;,regulatory_region_variant,,ENSR00000135500,; G ENSG00000125816 ENST00000351817 Transcript missense_variant 853/2238 224/1065 75/354 N/T aAc/aCc 1 -1 NKX2-4 HGNC HGNC:7837 protein_coding YES CCDS42855.1 ENSP00000345147 Q9H2Z4 UPI00001AE6EC NM_033176.1 tolerated(0.32) benign(0.177) 1/2 hmmpanther:PTHR24340:SF40,hmmpanther:PTHR24340 MODERATE 1 SNV 5 PASS GTT . . 21397176 CEBPB . GRCh38 chr20 50191221 50191221 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.188T>G p.Leu63Arg p.L63R ENST00000303004 1/1 54 45 8 46 45 1 CEBPB,missense_variant,p.Leu63Arg,ENST00000303004,NM_005194.3,NM_001285879.1,NM_001285878.1;CEBPB-AS1,intron_variant,,ENST00000613921,;,regulatory_region_variant,,ENSR00000138419,; G ENSG00000172216 ENST00000303004 Transcript missense_variant 488/1956 188/1038 63/345 L/R cTg/cGg 1 1 CEBPB HGNC HGNC:1834 protein_coding YES CCDS13429.1 ENSP00000305422 P17676 UPI000000D8BA NM_005194.3,NM_001285879.1,NM_001285878.1 deleterious(0) possibly_damaging(0.708) 1/1 mobidb-lite,hmmpanther:PTHR23334,hmmpanther:PTHR23334:SF21,PIRSF_domain:PIRSF005879 MODERATE SNV PASS CTG . . 50191221 LIME1 . GRCh38 chr20 63737818 63737818 + Splice_Region SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.99-3A>C ENST00000309546 49 38 8 43 39 0 LIME1,splice_region_variant,,ENST00000309546,NM_017806.3;LIME1,splice_region_variant,,ENST00000444951,;LIME1,splice_region_variant,,ENST00000480139,NM_001305655.1,NM_001305654.1;LIME1,splice_region_variant,,ENST00000487026,;LIME1,splice_region_variant,,ENST00000493265,;AL121845.3,splice_region_variant,,ENST00000632538,;LIME1,intron_variant,,ENST00000476183,;AL121845.3,intron_variant,,ENST00000496820,;SLC2A4RG,upstream_gene_variant,,ENST00000266077,NM_020062.3;ZGPAT,downstream_gene_variant,,ENST00000328969,NM_032527.4;ZGPAT,downstream_gene_variant,,ENST00000355969,NM_001195653.1,NM_181485.2;ZGPAT,downstream_gene_variant,,ENST00000357119,NM_001195654.1;ZGPAT,downstream_gene_variant,,ENST00000369967,;ZGPAT,downstream_gene_variant,,ENST00000448100,NM_001083113.1;AL121845.2,upstream_gene_variant,,ENST00000467211,;ZGPAT,downstream_gene_variant,,ENST00000468235,;ZGPAT,downstream_gene_variant,,ENST00000472711,;SLC2A4RG,upstream_gene_variant,,ENST00000473157,;SLC2A4RG,upstream_gene_variant,,ENST00000474248,;AL121845.2,upstream_gene_variant,,ENST00000476221,;ZGPAT,downstream_gene_variant,,ENST00000478385,;SLC2A4RG,upstream_gene_variant,,ENST00000482718,;SLC2A4RG,upstream_gene_variant,,ENST00000485897,;SLC2A4RG,upstream_gene_variant,,ENST00000491109,;SLC2A4RG,upstream_gene_variant,,ENST00000493772,;LIME1,upstream_gene_variant,,ENST00000494776,;SLC2A4RG,upstream_gene_variant,,ENST00000496425,;LIME1,splice_region_variant,,ENST00000465591,;AL121845.3,splice_region_variant,,ENST00000490623,;LIME1,splice_region_variant,,ENST00000621325,;LIME1,intron_variant,,ENST00000489212,;ZGPAT,downstream_gene_variant,,ENST00000477340,;ZGPAT,downstream_gene_variant,,ENST00000484569,; C ENSG00000203896 ENST00000309546 Transcript splice_region_variant,intron_variant 1 1 LIME1 HGNC HGNC:26016 protein_coding YES CCDS13536.1 ENSP00000309521 Q9H400 UPI000006F9E2 NM_017806.3 2/5 LOW 1 SNV 1 PASS CAA . . 63737818 KRTAP10-5 . GRCh38 chr21 44580186 44580186 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.393T>G p.Cys131Trp p.C131W ENST00000400372 1/1 58 37 5 26 26 0 KRTAP10-5,missense_variant,p.Cys131Trp,ENST00000400372,NM_198694.3;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000622352,;KRTAP10-4,downstream_gene_variant,,ENST00000400374,NM_198687.2;TSPEAR,intron_variant,,ENST00000642437,;,regulatory_region_variant,,ENSR00000300627,; C ENSG00000241123 ENST00000400372 Transcript missense_variant 419/1150 393/816 131/271 C/W tgT/tgG 1 -1 KRTAP10-5 HGNC HGNC:22969 protein_coding YES CCDS42958.1 ENSP00000383223 P60370 UPI00003D4D6F NM_198694.3 deleterious(0.01) probably_damaging(0.97) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF93,hmmpanther:PTHR23262:SF93 MODERATE SNV PASS CAC . . 44580186 KRTAP10-11 . GRCh38 chr21 44647009 44647009 + Missense_Mutation SNP A A C novel 7316-1784 BS_Q5ABAC4M A A c.551A>C p.Tyr184Ser p.Y184S ENST00000334670 1/1 54 33 12 38 36 0 KRTAP10-11,missense_variant,p.Tyr184Ser,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000243489 ENST00000334670 Transcript missense_variant 596/1237 551/897 184/298 Y/S tAc/tCc 1 1 KRTAP10-11 HGNC HGNC:20528 protein_coding YES CCDS42962.1 ENSP00000334197 P60412 UPI000040FC94 NM_198692.2 tolerated(0.12) benign(0) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF125 MODERATE SNV PASS TAC . . 44647009 CSF2RB . GRCh38 chr22 36937585 36937585 + Missense_Mutation SNP T T G novel 7316-1784 BS_Q5ABAC4M T T c.1777T>G p.Tyr593Asp p.Y593D ENST00000403662 14/14 48 40 6 36 36 0 CSF2RB,missense_variant,p.Tyr593Asp,ENST00000403662,NM_000395.2;CSF2RB,missense_variant,p.Tyr593Asp,ENST00000262825,;CSF2RB,missense_variant,p.Tyr599Asp,ENST00000406230,; G ENSG00000100368 ENST00000403662 Transcript missense_variant 1999/4863 1777/2694 593/897 Y/D Tac/Gac 1 1 CSF2RB HGNC HGNC:2436 protein_coding YES CCDS13936.1 ENSP00000384053 P32927 UPI0000128C9F NM_000395.2 deleterious(0) probably_damaging(0.999) 14/14 mobidb-lite,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,PIRSF_domain:PIRSF001956 MODERATE 1 SNV 5 1 PASS CTA . . 36937585 MXRA8 . GRCh38 chr1 1353305 1353306 + Frame_Shift_Ins INS - - C rs566511825 7316-2156 BS_H9813KRS - - c.1348dup p.Ala450GlyfsTer95 p.A450Gfs*95 ENST00000445648 10/10 137 116 9 33 30 0 MXRA8,frameshift_variant,p.Ala450GlyfsTer95,ENST00000445648,NM_001282585.1;MXRA8,3_prime_UTR_variant,,ENST00000477278,NM_001282583.1;MXRA8,3_prime_UTR_variant,,ENST00000309212,NM_001282582.1,NM_032348.3;MXRA8,3_prime_UTR_variant,,ENST00000342753,NM_001282584.1;DVL1,upstream_gene_variant,,ENST00000378888,NM_001330311.1;DVL1,upstream_gene_variant,,ENST00000378891,NM_004421.2;DVL1,upstream_gene_variant,,ENST00000610709,;MXRA8,non_coding_transcript_exon_variant,,ENST00000474033,;MXRA8,non_coding_transcript_exon_variant,,ENST00000473097,;MXRA8,non_coding_transcript_exon_variant,,ENST00000478517,;MXRA8,downstream_gene_variant,,ENST00000460473,;MXRA8,downstream_gene_variant,,ENST00000464351,;DVL1,upstream_gene_variant,,ENST00000472445,;MXRA8,downstream_gene_variant,,ENST00000476718,; C ENSG00000162576 ENST00000445648 Transcript frameshift_variant 1387-1388/2001 1348-1349/1353 450/450 A/GX gcc/gGcc rs566511825 1 -1 MXRA8 HGNC HGNC:7542 protein_coding YES CCDS59951.1 ENSP00000399229 Q9BRK3 UPI0000470B85 NM_001282585.1 10/10 0.0182 0.0673 0.0029 HIGH 1 insertion 2 PASS GGC . . 0.002844 0.05242 0.002277 0.0001311 0.001343 4.431e-05 1353305 ENO1 . GRCh38 chr1 8867115 8867115 + Splice_Site SNP A A G rs878958212 7316-2156 BS_H9813KRS A A c.444+2T>C p.X148_splice ENST00000646539 118 101 11 41 41 0 ENO1,splice_donor_variant,,ENST00000234590,;ENO1,splice_donor_variant,,ENST00000497492,;ENO1,splice_donor_variant,,ENST00000646539,NM_001428.3,NM_001201483.1;ENO1,splice_donor_variant,,ENST00000646660,;ENO1,splice_donor_variant,,ENST00000647408,NM_001353346.2;ENO1,downstream_gene_variant,,ENST00000489867,;ENO1,downstream_gene_variant,,ENST00000643438,;ENO1,downstream_gene_variant,,ENST00000646156,;ENO1,downstream_gene_variant,,ENST00000646906,;MIR6728,upstream_gene_variant,,ENST00000618792,;ENO1,splice_donor_variant,,ENST00000645600,;ENO1,splice_donor_variant,,ENST00000464920,;ENO1,splice_donor_variant,,ENST00000645609,;ENO1,splice_donor_variant,,ENST00000646680,;ENO1,downstream_gene_variant,,ENST00000486051,;ENO1,downstream_gene_variant,,ENST00000492343,;ENO1,downstream_gene_variant,,ENST00000646370,; G ENSG00000074800 ENST00000646539 Transcript splice_donor_variant rs878958212 1 -1 ENO1 HGNC HGNC:3350 protein_coding YES CCDS97.1 ENSP00000493526 A0A024R4F1 UPI000013C9AF NM_001428.3,NM_001201483.1 6/11 HIGH 1 SNV PASS CAC . . 8867115 EIF4G3 . GRCh38 chr1 20973001 20973001 + Splice_Site SNP C C T novel 7316-2156 BS_H9813KRS C C c.423+1G>A p.X141_splice ENST00000400422 112 99 8 44 43 0 EIF4G3,splice_donor_variant,,ENST00000264211,NM_003760.4;EIF4G3,splice_donor_variant,,ENST00000356916,NM_001198803.2;EIF4G3,splice_donor_variant,,ENST00000374935,;EIF4G3,splice_donor_variant,,ENST00000400422,NM_001198801.1;EIF4G3,splice_donor_variant,,ENST00000411888,;EIF4G3,splice_donor_variant,,ENST00000438975,;EIF4G3,splice_donor_variant,,ENST00000602326,NM_001198802.1;EIF4G3,splice_donor_variant,,ENST00000634879,;EIF4G3,downstream_gene_variant,,ENST00000476088,; T ENSG00000075151 ENST00000400422 Transcript splice_donor_variant 1 -1 EIF4G3 HGNC HGNC:3298 protein_coding YES CCDS72723.1 ENSP00000383274 A0A0A0MSA7 UPI0000D4C1EC NM_001198801.1 8/34 HIGH 1 SNV 1 PASS ACA . . 20973001 HSPG2 . GRCh38 chr1 21839494 21839494 + Missense_Mutation SNP G G A rs2291827 7316-2156 BS_H9813KRS G G c.9766C>T p.His3256Tyr p.H3256Y ENST00000374695 73/97 121 111 9 39 37 0 HSPG2,missense_variant,p.His3256Tyr,ENST00000374695,NM_005529.6,NM_001291860.1;HSPG2,upstream_gene_variant,,ENST00000374676,;HSPG2,upstream_gene_variant,,ENST00000471322,; A ENSG00000142798 ENST00000374695 Transcript missense_variant 9846/14327 9766/13176 3256/4391 H/Y Cac/Tac rs2291827,COSM3750891 1 -1 HSPG2 HGNC HGNC:5273 protein_coding YES CCDS30625.1 ENSP00000363827 P98160 UPI0000212778 NM_005529.6,NM_001291860.1 tolerated(0.07) benign(0.194) 73/97 cd00096,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726,PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF273 0.1522 0.0106 0.1484 0.1577 0.1928 0.2986 0.03949 0.1683 benign 0,1 MODERATE 1 SNV 1 1,1 1 PASS TGC . . 0.1708 0.03379 0.1235 0.1673 0.1604 0.2109 0.1711 0.1557 0.2697 21839494 HSPG2 . GRCh38 chr1 21852751 21852751 + Missense_Mutation SNP C C T rs35669711 7316-2156 BS_H9813KRS C C c.6673G>A p.Gly2225Ser p.G2225S ENST00000374695 52/97 158 142 10 44 42 0 HSPG2,missense_variant,p.Gly2225Ser,ENST00000374695,NM_005529.6,NM_001291860.1;HSPG2,intron_variant,,ENST00000493940,;HSPG2,upstream_gene_variant,,ENST00000453796,; T ENSG00000142798 ENST00000374695 Transcript missense_variant 6753/14327 6673/13176 2225/4391 G/S Ggc/Agc rs35669711 1 -1 HSPG2 HGNC HGNC:5273 protein_coding YES CCDS30625.1 ENSP00000363827 P98160 UPI0000212778 NM_005529.6,NM_001291860.1 tolerated(0.09) benign(0.066) 52/97 cd00096,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726,PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF273 0.0347 0.0023 0.0245 0.0487 0.1074 0.009532 0.05709 likely_benign MODERATE 1 SNV 1 1 1 PASS CCG . . 0.04978 0.008264 0.02398 0.04206 0.0001161 0.04433 0.05708 0.04918 0.1064 21852751 KDM1A . GRCh38 chr1 23019694 23019694 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.98A>C p.Asn33Thr p.N33T ENST00000400181 1/21 102 87 13 30 29 0 KDM1A,missense_variant,p.Asn33Thr,ENST00000400181,NM_001009999.2;KDM1A,missense_variant,p.Asn33Thr,ENST00000465864,;KDM1A,missense_variant,p.Asn33Thr,ENST00000356634,NM_015013.3;TEX46,upstream_gene_variant,,ENST00000566855,NM_001242521.1;AL031428.1,downstream_gene_variant,,ENST00000427154,;,regulatory_region_variant,,ENSR00000002985,; C ENSG00000004487 ENST00000400181 Transcript missense_variant 202/3059 98/2631 33/876 N/T aAc/aCc 1 1 KDM1A HGNC HGNC:29079 protein_coding YES CCDS53278.1 ENSP00000383042 O60341 UPI0000403137 NM_001009999.2 tolerated_low_confidence(0.17) possibly_damaging(0.607) 1/21 PIRSF_domain:PIRSF038051,mobidb-lite MODERATE 1 SNV 1 1 PASS AAC . . 23019694 LAPTM5 . GRCh38 chr1 30735268 30735268 + Splice_Region SNP G G T novel 7316-2156 BS_H9813KRS G G c.607-3C>A ENST00000294507 111 101 7 32 32 0 LAPTM5,splice_region_variant,,ENST00000294507,NM_006762.2;MIR4420,downstream_gene_variant,,ENST00000583944,;LAPTM5,splice_region_variant,,ENST00000464569,; T ENSG00000162511 ENST00000294507 Transcript splice_region_variant,intron_variant 1 -1 LAPTM5 HGNC HGNC:29612 protein_coding YES CCDS337.1 ENSP00000294507 Q13571 Q5TBB8 UPI000012E20A NM_006762.2 6/7 LOW 1 SNV 1 PASS TGG . . 30735268 DLGAP3 . GRCh38 chr1 34885470 34885470 + Splice_Region SNP T T G rs768411376 7316-2156 BS_H9813KRS T T c.1914+8A>C ENST00000373347 122 108 11 36 34 0 DLGAP3,splice_region_variant,,ENST00000235180,;DLGAP3,splice_region_variant,,ENST00000373347,NM_001080418.2;,regulatory_region_variant,,ENSR00000004619,; G ENSG00000116544 ENST00000373347 Transcript splice_region_variant,intron_variant rs768411376 1 -1 DLGAP3 HGNC HGNC:30368 protein_coding YES CCDS30670.1 ENSP00000362444 O95886 UPI00003D4D81 NM_001080418.2 7/11 LOW 1 SNV 5 PASS GTT . . 8.756e-06 1.947e-05 34885470 BMP8A . GRCh38 chr1 39492034 39492034 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.43T>G p.Leu15Val p.L15V ENST00000331593 1/7 87 73 11 36 36 0 BMP8A,missense_variant,p.Leu15Val,ENST00000331593,NM_181809.3;MACF1,downstream_gene_variant,,ENST00000564288,;MACF1,downstream_gene_variant,,ENST00000567887,;,regulatory_region_variant,,ENSR00000005065,; G ENSG00000183682 ENST00000331593 Transcript missense_variant 389/1692 43/1209 15/402 L/V Ttg/Gtg 1 1 BMP8A HGNC HGNC:21650 protein_coding YES CCDS437.1 ENSP00000327440 Q7Z5Y6 UPI00002057D6 NM_181809.3 tolerated(0.18) possibly_damaging(0.461) 1/7 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF173 MODERATE 1 SNV 1 PASS GTT . . 39492034 CITED4 . GRCh38 chr1 40862025 40862025 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.103T>G p.Tyr35Asp p.Y35D ENST00000372638 1/1 84 67 11 42 42 0 CITED4,missense_variant,p.Tyr35Asp,ENST00000372638,NM_133467.2;AC119677.1,upstream_gene_variant,,ENST00000414199,;,regulatory_region_variant,,ENSR00000005267,; C ENSG00000179862 ENST00000372638 Transcript missense_variant 342/1316 103/555 35/184 Y/D Tac/Gac 1 -1 CITED4 HGNC HGNC:18696 protein_coding YES CCDS458.1 ENSP00000361721 Q96RK1 UPI000004241F NM_133467.2 deleterious(0) probably_damaging(0.939) 1/1 mobidb-lite,hmmpanther:PTHR17045:SF5,hmmpanther:PTHR17045 MODERATE SNV PASS TAC . . 40862025 ARTN . GRCh38 chr1 43936398 43936398 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.320T>G p.Leu107Arg p.L107R ENST00000414809 5/5 77 60 13 38 38 0 ARTN,missense_variant,p.Leu107Arg,ENST00000414809,NM_057090.2;ARTN,missense_variant,p.Leu99Arg,ENST00000372359,NM_057091.2;ARTN,missense_variant,p.Leu107Arg,ENST00000498139,NM_001136215.1;ARTN,missense_variant,p.Leu99Arg,ENST00000372354,;ARTN,missense_variant,p.Leu116Arg,ENST00000438616,;ARTN,downstream_gene_variant,,ENST00000471394,;ARTN,downstream_gene_variant,,ENST00000472435,;ARTN,downstream_gene_variant,,ENST00000474592,;ARTN,downstream_gene_variant,,ENST00000477048,;ARTN,downstream_gene_variant,,ENST00000479128,;ARTN,downstream_gene_variant,,ENST00000491846,;,regulatory_region_variant,,ENSR00000251520,; G ENSG00000117407 ENST00000414809 Transcript missense_variant 1102/1943 320/687 107/228 L/R cTt/cGt 1 1 ARTN HGNC HGNC:727 protein_coding YES CCDS502.1 ENSP00000387435 Q5T4W7 UPI00001AFA84 NM_057090.2 tolerated(0.61) benign(0.001) 5/5 hmmpanther:PTHR12173,hmmpanther:PTHR12173:SF9,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 3 PASS CTT . . 43936398 ZSWIM5 . GRCh38 chr1 45205884 45205884 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.467T>G p.Val156Gly p.V156G ENST00000359600 1/14 61 53 7 22 22 0 ZSWIM5,missense_variant,p.Val156Gly,ENST00000359600,NM_020883.1;ZSWIM5,intron_variant,,ENST00000464588,;,regulatory_region_variant,,ENSR00000005837,; C ENSG00000162415 ENST00000359600 Transcript missense_variant 673/5819 467/3558 156/1185 V/G gTc/gGc 1 -1 ZSWIM5 HGNC HGNC:29299 protein_coding YES CCDS41319.1 ENSP00000352614 Q9P217 UPI00001C1D76 NM_020883.1 tolerated(0.51) benign(0) 1/14 Low_complexity_(Seg):seg,hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF2 MODERATE 1 SNV 1 PASS GAC . . 45205884 DMBX1 . GRCh38 chr1 46512113 46512113 + Nonsense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.753T>G p.Tyr251Ter p.Y251* ENST00000360032 4/4 98 85 11 31 31 0 DMBX1,stop_gained,p.Tyr256Ter,ENST00000371956,NM_147192.2;DMBX1,stop_gained,p.Tyr251Ter,ENST00000360032,NM_172225.1; G ENSG00000197587 ENST00000360032 Transcript stop_gained 767/2880 753/1134 251/377 Y/* taT/taG 1 1 DMBX1 HGNC HGNC:19026 protein_coding YES CCDS536.1 ENSP00000353132 Q8NFW5 UPI0000070B63 NM_172225.1 4/4 Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF319,hmmpanther:PTHR24329 HIGH 1 SNV 1 PASS ATT . . 46512113 FOXE3 . GRCh38 chr1 47416475 47416475 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.160A>C p.Thr54Pro p.T54P ENST00000335071 1/1 98 83 8 31 30 1 FOXE3,missense_variant,p.Thr54Pro,ENST00000335071,NM_012186.2; C ENSG00000186790 ENST00000335071 Transcript missense_variant 404/1981 160/960 54/319 T/P Acg/Ccg 1 1 FOXE3 HGNC HGNC:3808 protein_coding YES CCDS550.1 ENSP00000334472 Q13461 A0A0A1EII5 UPI000012ADD3 NM_012186.2 tolerated(0.29) benign(0) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF311,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 47416475 FOXE3 . GRCh38 chr1 47416878 47416878 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.563A>C p.Tyr188Ser p.Y188S ENST00000335071 1/1 99 85 10 34 32 0 FOXE3,missense_variant,p.Tyr188Ser,ENST00000335071,NM_012186.2;,regulatory_region_variant,,ENSR00000006051,; C ENSG00000186790 ENST00000335071 Transcript missense_variant 807/1981 563/960 188/319 Y/S tAc/tCc 1 1 FOXE3 HGNC HGNC:3808 protein_coding YES CCDS550.1 ENSP00000334472 Q13461 A0A0A1EII5 UPI000012ADD3 NM_012186.2 tolerated(0.4) benign(0.017) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF311,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAC . . 47416878 LRRC7 . GRCh38 chr1 69568641 69568641 + Translation_Start_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2T>G p.Met1? p.M1? ENST00000370958 1/8 94 72 11 28 27 0 LRRC7,start_lost,p.Met1?,ENST00000370958,;LRRC7,splice_region_variant,,ENST00000310961,NM_001350216.1; G ENSG00000033122 ENST00000370958 Transcript start_lost,splice_region_variant 192/2375 2/654 1/217 M/R aTg/aGg 1 1 LRRC7 HGNC HGNC:18531 protein_coding ENSP00000359997 B1AKT2 UPI000018DB0D deleterious_low_confidence(0.03) benign(0.006) 1/8 HIGH 1 SNV 1 PASS ATG . . 69568641 SYDE2 . GRCh38 chr1 85200881 85200881 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.116A>C p.Tyr39Ser p.Y39S ENST00000341460 1/7 101 86 9 44 43 0 SYDE2,missense_variant,p.Tyr39Ser,ENST00000341460,NM_032184.1;SYDE2,upstream_gene_variant,,ENST00000234668,;,regulatory_region_variant,,ENSR00000009186,; G ENSG00000097096 ENST00000341460 Transcript missense_variant 166/5512 116/3585 39/1194 Y/S tAc/tCc 1 -1 SYDE2 HGNC HGNC:25841 protein_coding YES CCDS44169.1 ENSP00000340594 Q5VT97 UPI0001553B04 NM_032184.1 tolerated_low_confidence(0.57) benign(0) 1/7 mobidb-lite MODERATE 1 SNV 5 PASS GTA . . 85200881 ODF2L . GRCh38 chr1 86354796 86354796 + Missense_Mutation SNP G G T novel 7316-2156 BS_H9813KRS G G c.1582C>A p.Leu528Met p.L528M ENST00000359242 15/18 119 111 5 40 40 0 ODF2L,missense_variant,p.Leu528Met,ENST00000359242,;ODF2L,missense_variant,p.Leu528Met,ENST00000317336,NM_001007022.2;ODF2L,missense_variant,p.Leu512Met,ENST00000294678,NM_020729.2;ODF2L,missense_variant,p.Leu446Met,ENST00000370566,NM_001184765.1,NM_001184766.1;ODF2L,missense_variant,p.Leu375Met,ENST00000460698,;ODF2L,missense_variant,p.Leu35Met,ENST00000462648,;ODF2L,downstream_gene_variant,,ENST00000479890,;MIR7856,downstream_gene_variant,,ENST00000618009,;ODF2L,downstream_gene_variant,,ENST00000463933,;ODF2L,downstream_gene_variant,,ENST00000524695,;ODF2L,3_prime_UTR_variant,,ENST00000531412,;ODF2L,non_coding_transcript_exon_variant,,ENST00000476054,;ODF2L,non_coding_transcript_exon_variant,,ENST00000473792,;ODF2L,downstream_gene_variant,,ENST00000472144,;ODF2L,downstream_gene_variant,,ENST00000488879,;ODF2L,downstream_gene_variant,,ENST00000496592,;ODF2L,downstream_gene_variant,,ENST00000534092,; T ENSG00000122417 ENST00000359242 Transcript missense_variant 1864/7560 1582/1911 528/636 L/M Ctg/Atg 1 -1 ODF2L HGNC HGNC:29225 protein_coding YES CCDS41354.2 ENSP00000359600 Q9ULJ1 UPI00001C1D6A tolerated(0.16) probably_damaging(0.992) 15/18 hmmpanther:PTHR23162:SF7,hmmpanther:PTHR23162 MODERATE 1 SNV 1 PASS AGC . . 86354796 RBMXL1 . GRCh38 chr1 88983046 88983046 + Missense_Mutation SNP C C T rs137876119 7316-2156 BS_H9813KRS C C c.781G>A p.Gly261Ser p.G261S ENST00000399794 3/3 116 107 6 47 46 0 RBMXL1,missense_variant,p.Gly261Ser,ENST00000399794,NM_001162536.2;RBMXL1,missense_variant,p.Gly261Ser,ENST00000321792,NM_019610.5;KYAT3,intron_variant,,ENST00000260508,NM_001008661.2,NM_001349448.1;KYAT3,intron_variant,,ENST00000370486,;KYAT3,intron_variant,,ENST00000370491,NM_001008662.2,NM_001349447.1;RBMXL1,downstream_gene_variant,,ENST00000413769,;KYAT3,intron_variant,,ENST00000446900,; T ENSG00000213516 ENST00000399794 Transcript missense_variant 1497/5084 781/1173 261/390 G/S Ggc/Agc rs137876119,COSM3977947 1 -1 RBMXL1 HGNC HGNC:25073 protein_coding YES CCDS716.1 ENSP00000446099 Q96E39 UPI000006DA18 NM_001162536.2 tolerated(1) benign(0.001) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF4,hmmpanther:PTHR44345 0.0008 0.003 0,1 MODERATE SNV 2 0,1 PASS CCA . . 9.341e-05 0.001177 5.956e-05 8.955e-06 0.0001823 3.249e-05 88983046 RBMXL1 . GRCh38 chr1 88992587 88992587 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.-343T>G ENST00000399794 1/3 104 84 13 28 28 0 RBMXL1,splice_region_variant,,ENST00000399794,NM_001162536.2;RBMXL1,splice_region_variant,,ENST00000321792,NM_019610.5;KYAT3,splice_region_variant,,ENST00000260508,NM_001008661.2,NM_001349448.1;KYAT3,splice_region_variant,,ENST00000370491,NM_001008662.2,NM_001349447.1;KYAT3,splice_region_variant,,ENST00000370486,;RBMXL1,splice_region_variant,,ENST00000413769,;KYAT3,upstream_gene_variant,,ENST00000446900,;,regulatory_region_variant,,ENSR00000009513,; C ENSG00000213516 ENST00000399794 Transcript splice_region_variant,5_prime_UTR_variant 374/5084 1 -1 RBMXL1 HGNC HGNC:25073 protein_coding YES CCDS716.1 ENSP00000446099 Q96E39 UPI000006DA18 NM_001162536.2 1/3 LOW SNV 2 PASS TAT . . 88992587 RPAP2 . GRCh38 chr1 92299075 92299075 + Translation_Start_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2T>G p.Met1? p.M1? ENST00000610020 1/13 104 87 14 39 38 0 RPAP2,start_lost,p.Met1?,ENST00000610020,NM_024813.2;GLMN,upstream_gene_variant,,ENST00000370360,NM_001319683.1,NM_053274.2;RPAP2,upstream_gene_variant,,ENST00000484158,;GLMN,upstream_gene_variant,,ENST00000487911,;GLMN,upstream_gene_variant,,ENST00000495106,;,regulatory_region_variant,,ENSR00000009821,; G ENSG00000122484 ENST00000610020 Transcript start_lost 111/16993 2/1839 1/612 M/R aTg/aGg 1 1 RPAP2 HGNC HGNC:25791 protein_coding YES CCDS740.1 ENSP00000476948 Q8IXW5 UPI0000074323 NM_024813.2 deleterious_low_confidence(0) probably_damaging(0.944) 1/13 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 92299075 SLC25A24 . GRCh38 chr1 108200038 108200038 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.101A>C p.Asn34Thr p.N34T ENST00000565488 1/10 123 105 15 30 30 0 SLC25A24,missense_variant,p.Asn34Thr,ENST00000565488,NM_013386.4;SLC25A24,missense_variant,p.Asn34Thr,ENST00000569674,;AL359258.2,non_coding_transcript_exon_variant,,ENST00000564063,;AL359258.3,upstream_gene_variant,,ENST00000622910,;SLC25A24,missense_variant,p.Asn34Thr,ENST00000264128,;,regulatory_region_variant,,ENSR00000010962,; G ENSG00000085491 ENST00000565488 Transcript missense_variant 321/4271 101/1434 34/477 N/T aAt/aCt 1 -1 SLC25A24 HGNC HGNC:20662 protein_coding YES CCDS41361.1 ENSP00000457733 Q6NUK1 UPI0000206111 NM_013386.4 deleterious(0) benign(0.2) 1/10 PROSITE_profiles:PS50222,PROSITE_patterns:PS00018,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473 MODERATE 1 SNV 1 1 PASS ATT . . 108200038 CSF1 . GRCh38 chr1 109911060 109911060 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.37A>C p.Thr13Pro p.T13P ENST00000329608 1/9 84 68 12 19 19 0 CSF1,missense_variant,p.Thr13Pro,ENST00000329608,NM_000757.5;CSF1,missense_variant,p.Thr13Pro,ENST00000369802,NM_172212.2;CSF1,missense_variant,p.Thr13Pro,ENST00000369801,NM_172210.2;CSF1,missense_variant,p.Thr13Pro,ENST00000420111,NM_172211.3;CSF1,missense_variant,p.Thr13Pro,ENST00000488198,;CSF1,missense_variant,p.Thr13Pro,ENST00000357302,;CSF1,intron_variant,,ENST00000525659,;CSF1,intron_variant,,ENST00000527192,;CSF1,upstream_gene_variant,,ENST00000526001,;,regulatory_region_variant,,ENSR00000011183,; C ENSG00000184371 ENST00000329608 Transcript missense_variant,splice_region_variant 428/4210 37/1665 13/554 T/P Acg/Ccg 1 1 CSF1 HGNC HGNC:2432 protein_coding YES CCDS816.1 ENSP00000327513 P09603 UPI00001AFA6F NM_000757.5 deleterious_low_confidence(0.02) benign(0.377) 1/9 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10058,PIRSF_domain:PIRSF001948 MODERATE 1 SNV 1 PASS CAC . . 109911060 AHCYL1 . GRCh38 chr1 109985053 109985053 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1A>C p.Met1? p.M1? ENST00000369799 1/17 104 82 16 37 36 0 AHCYL1,start_lost,p.Met1?,ENST00000369799,NM_006621.5;AHCYL1,5_prime_UTR_variant,,ENST00000393614,NM_001242674.1,NM_001242673.1;AHCYL1,non_coding_transcript_exon_variant,,ENST00000475081,;,regulatory_region_variant,,ENSR00000011199,; C ENSG00000168710 ENST00000369799 Transcript start_lost 368/4015 1/1593 1/530 M/L Atg/Ctg 1 1 AHCYL1 HGNC HGNC:344 protein_coding YES CCDS818.1 ENSP00000358814 O43865 A0A024R0A8 UPI00000022AC NM_006621.5 deleterious_low_confidence(0) benign(0) 1/17 HIGH 1 SNV 1 PASS AAT . . 109985053 TCHH . GRCh38 chr1 152109821 152109821 + Missense_Mutation SNP C C G novel 7316-2156 BS_H9813KRS C C c.3396G>C p.Arg1132Ser p.R1132S ENST00000614923 3/3 53 39 5 30 27 0 TCHH,missense_variant,p.Arg1132Ser,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg1132Ser,ENST00000368804,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 3491/6995 3396/5832 1132/1943 R/S agG/agC 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 deleterious_low_confidence(0.02) benign(0.118) 3/3 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS GCC . . 152109821 TCHH . GRCh38 chr1 152111874 152111874 + Missense_Mutation SNP T T G 7316-2156 BS_H9813KRS T T c.1343A>C p.Lys448Thr p.K448T ENST00000614923 3/3 68 46 7 31 28 0 TCHH,missense_variant,p.Lys448Thr,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Lys448Thr,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 1438/6995 1343/5832 448/1943 K/T aAg/aCg COSM6334847 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 benign(0.135) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,Gene3D:1.10.238.10 1 MODERATE 1 SNV 5 1 1 PASS CTT . . 152111874 TCHH . GRCh38 chr1 152111880 152111880 + Missense_Mutation SNP C C A 7316-2156 BS_H9813KRS C C c.1337G>T p.Arg446Leu p.R446L ENST00000614923 3/3 73 49 8 30 28 0 TCHH,missense_variant,p.Arg446Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg446Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 1432/6995 1337/5832 446/1943 R/L cGg/cTg COSM5956933 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 benign(0.4) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,Gene3D:1.10.238.10 1 MODERATE 1 SNV 5 1 1 PASS CCG . . 152111880 FLG2 . GRCh38 chr1 152351932 152351932 + Nonsense_Mutation SNP C C A rs1403594309 7316-2156 BS_H9813KRS C C c.5854G>T p.Gly1952Ter p.G1952* ENST00000388718 3/3 126 98 11 47 47 0 FLG2,stop_gained,p.Gly1952Ter,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript stop_gained 5927/9124 5854/7176 1952/2391 G/* Gga/Tga rs1403594309,COSM6285886 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 HIGH SNV 5 0,1 1 PASS CCC . . 152351932 FLG2 . GRCh38 chr1 152353644 152353644 + Missense_Mutation SNP T T C rs867888333 7316-2156 BS_H9813KRS T T c.4142A>G p.Glu1381Gly p.E1381G ENST00000388718 3/3 96 75 13 38 37 0 FLG2,missense_variant,p.Glu1381Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 4215/9124 4142/7176 1381/2391 E/G gAa/gGa rs867888333 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS TTC . . 152353644 S100A6 . GRCh38 chr1 153535362 153535362 + Splice_Site SNP T T G rs111984299 7316-2156 BS_H9813KRS T T c.-21-2A>C ENST00000368720 135 124 8 29 29 0 S100A6,splice_acceptor_variant,,ENST00000368719,NM_014624.3;S100A6,splice_acceptor_variant,,ENST00000368720,;S100A6,splice_acceptor_variant,,ENST00000462776,;S100A6,5_prime_UTR_variant,,ENST00000496817,;S100A5,downstream_gene_variant,,ENST00000368717,;S100A5,downstream_gene_variant,,ENST00000368718,NM_002962.1;BX470102.1,downstream_gene_variant,,ENST00000420695,;S100A6,splice_acceptor_variant,,ENST00000462951,;,regulatory_region_variant,,ENSR00000013803,; G ENSG00000197956 ENST00000368720 Transcript splice_acceptor_variant rs111984299 1 -1 S100A6 HGNC HGNC:10496 protein_coding YES CCDS1040.1 ENSP00000357709 P06703 UPI000003417F 2/3 HIGH SNV 3 PASS CTG . . 153535362 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 131 105 17 27 27 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 HDGF . GRCh38 chr1 156743766 156743766 + Missense_Mutation SNP G G A rs4399146 7316-2156 BS_H9813KRS G G c.650C>T p.Pro217Leu p.P217L ENST00000368206 5/6 119 107 6 32 32 0 HDGF,missense_variant,p.Pro201Leu,ENST00000357325,NM_004494.2;HDGF,missense_variant,p.Pro194Leu,ENST00000368209,NM_001126051.1;HDGF,missense_variant,p.Pro201Leu,ENST00000537739,NM_001319188.1,NM_001319187.1;HDGF,missense_variant,p.Pro217Leu,ENST00000368206,NM_001126050.1,NM_001319186.1;MRPL24,upstream_gene_variant,,ENST00000361531,;MRPL24,upstream_gene_variant,,ENST00000368211,NM_145729.2,NM_024540.3;MRPL24,upstream_gene_variant,,ENST00000412846,;MRPL24,upstream_gene_variant,,ENST00000420938,;MRPL24,upstream_gene_variant,,ENST00000434558,;HDGF,non_coding_transcript_exon_variant,,ENST00000465180,;HDGF,non_coding_transcript_exon_variant,,ENST00000482651,;HDGF,non_coding_transcript_exon_variant,,ENST00000469145,;HDGF,non_coding_transcript_exon_variant,,ENST00000477306,;HDGF,downstream_gene_variant,,ENST00000471377,;HDGF,downstream_gene_variant,,ENST00000495212,; A ENSG00000143321 ENST00000368206 Transcript missense_variant 735/960 650/771 217/256 P/L cCc/cTc rs4399146,COSM3750438,COSM3750437,COSM3750436 1 -1 HDGF HGNC HGNC:4856 protein_coding YES CCDS44247.1 ENSP00000357189 P51858 UPI00004701A4 NM_001126050.1,NM_001319186.1 deleterious_low_confidence(0) benign(0) 5/6 mobidb-lite,hmmpanther:PTHR12550,hmmpanther:PTHR12550:SF41 0.1921 0.0666 0.2219 0.125 0.334 0.2638 0.1133 0.3449 0,1,1,1 MODERATE SNV 5 0,1,1,1 PASS GGG . . 0.2736 0.09825 0.1581 0.3044 0.1068 0.3414 0.3456 0.3147 0.2632 156743766 HDGF . GRCh38 chr1 156745375 156745375 + Splice_Site SNP T T C rs113650736 7316-2156 BS_H9813KRS T T c.136-2A>G p.X46_splice ENST00000368206 133 122 7 39 39 0 HDGF,splice_acceptor_variant,,ENST00000357325,NM_004494.2;HDGF,splice_acceptor_variant,,ENST00000368206,NM_001126050.1,NM_001319186.1;HDGF,splice_acceptor_variant,,ENST00000368209,NM_001126051.1;HDGF,splice_acceptor_variant,,ENST00000537739,NM_001319188.1,NM_001319187.1;MRPL24,upstream_gene_variant,,ENST00000361531,;MRPL24,upstream_gene_variant,,ENST00000368211,NM_145729.2,NM_024540.3;MRPL24,upstream_gene_variant,,ENST00000412846,;MRPL24,upstream_gene_variant,,ENST00000420938,;MRPL24,upstream_gene_variant,,ENST00000434558,;HDGF,splice_acceptor_variant,,ENST00000465180,;HDGF,splice_acceptor_variant,,ENST00000469145,;HDGF,splice_acceptor_variant,,ENST00000471377,;HDGF,splice_acceptor_variant,,ENST00000482651,;HDGF,splice_acceptor_variant,,ENST00000495212,;HDGF,upstream_gene_variant,,ENST00000477306,; C ENSG00000143321 ENST00000368206 Transcript splice_acceptor_variant rs113650736 1 -1 HDGF HGNC HGNC:4856 protein_coding YES CCDS44247.1 ENSP00000357189 P51858 UPI00004701A4 NM_001126050.1,NM_001319186.1 1/5 HIGH SNV 5 PASS CTG . . 156745375 TSTD1 . GRCh38 chr1 161038549 161038549 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.133+2T>G p.X45_splice ENST00000423014 109 88 20 40 40 0 TSTD1,splice_donor_variant,,ENST00000318289,NM_001113205.1;TSTD1,splice_donor_variant,,ENST00000368023,;TSTD1,splice_donor_variant,,ENST00000423014,NM_001113207.1;TSTD1,splice_donor_variant,,ENST00000466967,;TSTD1,intron_variant,,ENST00000368024,NM_001113206.1;USF1,downstream_gene_variant,,ENST00000368019,;USF1,downstream_gene_variant,,ENST00000368020,NM_001276373.1;USF1,downstream_gene_variant,,ENST00000368021,NM_007122.4;USF1,downstream_gene_variant,,ENST00000528768,NM_207005.2;USF1,downstream_gene_variant,,ENST00000531842,;USF1,downstream_gene_variant,,ENST00000534633,;TSTD1,non_coding_transcript_exon_variant,,ENST00000486084,;AL591806.3,intron_variant,,ENST00000289779,;AL591806.3,intron_variant,,ENST00000470694,;TSTD1,upstream_gene_variant,,ENST00000462952,;USF1,downstream_gene_variant,,ENST00000472217,;USF1,downstream_gene_variant,,ENST00000473969,;USF1,downstream_gene_variant,,ENST00000491629,;USF1,downstream_gene_variant,,ENST00000496363,;USF1,downstream_gene_variant,,ENST00000529476,;,regulatory_region_variant,,ENSR00000014624,;AL591806.2,downstream_gene_variant,,ENST00000433122,; C ENSG00000215845 ENST00000423014 Transcript splice_donor_variant 1 -1 TSTD1 HGNC HGNC:35410 protein_coding YES CCDS53400.1 ENSP00000388293 Q8NFU3 UPI000007148A NM_001113207.1 2/3 HIGH SNV 2 PASS TAC . . 161038549 APOA2 . GRCh38 chr1 161223053 161223053 + Splice_Region SNP G G T rs113746270 7316-2156 BS_H9813KRS G G c.53-3C>A ENST00000367990 183 99 47 42 40 0 APOA2,splice_region_variant,,ENST00000367990,NM_001643.1;APOA2,splice_region_variant,,ENST00000463273,;APOA2,splice_region_variant,,ENST00000463812,;APOA2,splice_region_variant,,ENST00000464492,;APOA2,splice_region_variant,,ENST00000469730,;APOA2,splice_region_variant,,ENST00000470459,;APOA2,intron_variant,,ENST00000468465,;APOA2,intron_variant,,ENST00000491350,;FCER1G,downstream_gene_variant,,ENST00000289902,NM_004106.1;TOMM40L,upstream_gene_variant,,ENST00000367987,;TOMM40L,upstream_gene_variant,,ENST00000367988,NM_032174.5;FCER1G,downstream_gene_variant,,ENST00000367992,;TOMM40L,upstream_gene_variant,,ENST00000545897,NM_001286374.1,NM_001286373.1;MIR5187,upstream_gene_variant,,ENST00000583479,;TOMM40L,upstream_gene_variant,,ENST00000465512,;TOMM40L,upstream_gene_variant,,ENST00000468803,;TOMM40L,upstream_gene_variant,,ENST00000470426,;TOMM40L,upstream_gene_variant,,ENST00000474486,;FCER1G,downstream_gene_variant,,ENST00000490414,;TOMM40L,upstream_gene_variant,,ENST00000492482,;APOA2,3_prime_UTR_variant,,ENST00000481511,;APOA2,non_coding_transcript_exon_variant,,ENST00000481413,; T ENSG00000158874 ENST00000367990 Transcript splice_region_variant,intron_variant rs113746270 1 -1 APOA2 HGNC HGNC:601 protein_coding YES CCDS1226.1 ENSP00000356969 P02652 UPI0000125BE4 NM_001643.1 2/3 LOW 1 SNV 1 1 PASS TGC . . 161223053 APOA2 . GRCh38 chr1 161223055 161223055 + Splice_Region SNP C C A rs1032889410 7316-2156 BS_H9813KRS C C c.53-5G>T ENST00000367990 183 96 50 42 40 0 APOA2,splice_region_variant,,ENST00000367990,NM_001643.1;APOA2,splice_region_variant,,ENST00000463273,;APOA2,splice_region_variant,,ENST00000463812,;APOA2,splice_region_variant,,ENST00000464492,;APOA2,splice_region_variant,,ENST00000469730,;APOA2,splice_region_variant,,ENST00000470459,;APOA2,intron_variant,,ENST00000468465,;APOA2,intron_variant,,ENST00000491350,;FCER1G,downstream_gene_variant,,ENST00000289902,NM_004106.1;TOMM40L,upstream_gene_variant,,ENST00000367987,;TOMM40L,upstream_gene_variant,,ENST00000367988,NM_032174.5;FCER1G,downstream_gene_variant,,ENST00000367992,;TOMM40L,upstream_gene_variant,,ENST00000545897,NM_001286374.1,NM_001286373.1;MIR5187,upstream_gene_variant,,ENST00000583479,;TOMM40L,upstream_gene_variant,,ENST00000465512,;TOMM40L,upstream_gene_variant,,ENST00000468803,;TOMM40L,upstream_gene_variant,,ENST00000470426,;TOMM40L,upstream_gene_variant,,ENST00000474486,;FCER1G,downstream_gene_variant,,ENST00000490414,;TOMM40L,upstream_gene_variant,,ENST00000492482,;APOA2,3_prime_UTR_variant,,ENST00000481511,;APOA2,non_coding_transcript_exon_variant,,ENST00000481413,; A ENSG00000158874 ENST00000367990 Transcript splice_region_variant,intron_variant rs1032889410 1 -1 APOA2 HGNC HGNC:601 protein_coding YES CCDS1226.1 ENSP00000356969 P02652 UPI0000125BE4 NM_001643.1 2/3 LOW 1 SNV 1 1 PASS CCC . . 161223055 OLFML2B . GRCh38 chr1 161998037 161998037 + Missense_Mutation SNP A A G rs892938814 7316-2156 BS_H9813KRS A A c.1265T>C p.Val422Ala p.V422A ENST00000367940 6/8 128 114 10 38 37 0 OLFML2B,missense_variant,p.Val421Ala,ENST00000294794,NM_015441.2;OLFML2B,missense_variant,p.Val422Ala,ENST00000367940,NM_001297713.1; G ENSG00000162745 ENST00000367940 Transcript missense_variant 1475/2685 1265/2256 422/751 V/A gTg/gCg rs892938814 1 -1 OLFML2B HGNC HGNC:24558 protein_coding YES CCDS72966.1 ENSP00000356917 F2Z3N3 UPI0001AE79B2 NM_001297713.1 tolerated(0.37) benign(0.039) 6/8 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23192:SF37,hmmpanther:PTHR23192 MODERATE 1 SNV 2 PASS CAC . . 161998037 ILDR2 . GRCh38 chr1 166920894 166920894 + Missense_Mutation SNP T T G 7316-2156 BS_H9813KRS T T c.1697A>C p.Tyr566Ser p.Y566S ENST00000271417 9/10 107 94 10 47 46 1 ILDR2,missense_variant,p.Tyr566Ser,ENST00000271417,NM_199351.2;ILDR2,missense_variant,p.Tyr547Ser,ENST00000529071,;ILDR2,missense_variant,p.Tyr507Ser,ENST00000528703,;ILDR2,missense_variant,p.Tyr458Ser,ENST00000526687,;ILDR2,missense_variant,p.Tyr439Ser,ENST00000525740,;ILDR2,intron_variant,,ENST00000469934,;ILDR2,intron_variant,,ENST00000529387,;ILDR2,upstream_gene_variant,,ENST00000614979,;,regulatory_region_variant,,ENSR00000015179,; G ENSG00000143195 ENST00000271417 Transcript missense_variant 1753/13140 1697/1920 566/639 Y/S tAc/tCc COSM6503740 1 -1 ILDR2 HGNC HGNC:18131 protein_coding YES CCDS1256.1 ENSP00000271417 Q71H61 UPI00002317DF NM_199351.2 deleterious(0.05) probably_damaging(0.996) 9/10 hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS GTA . . 166920894 FMO3 . GRCh38 chr1 171107825 171107825 + Missense_Mutation SNP G G A rs2266782 7316-2156 BS_H9813KRS G G c.472G>A p.Glu158Lys p.E158K ENST00000367755 4/9 116 105 5 49 48 0 FMO3,missense_variant,p.Glu158Lys,ENST00000367755,NM_001319174.1,NM_001002294.2,NM_001319173.1,NM_006894.5;FMO3,splice_region_variant,,ENST00000479749,;FMO3,downstream_gene_variant,,ENST00000478457,;FMO3,downstream_gene_variant,,ENST00000472784,; A ENSG00000007933 ENST00000367755 Transcript missense_variant 583/2087 472/1599 158/532 E/K Gag/Aag rs2266782,CM992884,COSM5618417 1 1 FMO3 HGNC HGNC:3771 protein_coding YES CCDS1292.1 ENSP00000356729 P31513 A0A024R8Z4 UPI000016A103 NM_001319174.1,NM_001002294.2,NM_001319173.1,NM_006894.5 tolerated(0.35) benign(0.023) 4/9 Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF44,Superfamily_domains:SSF51905 0.3478 0.4955 0.3199 0.1905 0.3668 0.3108 0.4653 0.4105 benign 0,0,1 25741868,20056567,24895604,18565990,18180394,20423962,22824134,23820649,26081749,15858076,24165757,27513517,10479479,10485731,10896299,11809920,9536088,19321370,23266626,28134761,28196478,25243081,28471432,28178031 MODERATE 1 SNV 1 1,1,1 1 PASS AGA . . 0.3749 0.4644 0.3057 0.3137 0.2002 0.4416 0.4155 0.3666 0.3299 171107825 NPHS2 . GRCh38 chr1 179575863 179575863 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.2T>G p.Met1? p.M1? ENST00000367615 1/8 95 78 12 38 38 0 NPHS2,start_lost,p.Met1?,ENST00000367615,NM_014625.3;NPHS2,start_lost,p.Met1?,ENST00000367616,NM_001297575.1;RNU5F-2P,upstream_gene_variant,,ENST00000516066,;,regulatory_region_variant,,ENSR00000016471,; C ENSG00000116218 ENST00000367615 Transcript start_lost 71/1855 2/1152 1/383 M/R aTg/aGg 1 -1 NPHS2 HGNC HGNC:13394 protein_coding YES CCDS1331.1 ENSP00000356587 Q9NP85 UPI000003F549 NM_014625.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/8 mobidb-lite HIGH 1 SNV 1 1 PASS CAT . . 179575863 SHCBP1L . GRCh38 chr1 182952964 182952964 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.170T>G p.Val57Gly p.V57G ENST00000367547 1/10 124 112 6 30 30 0 SHCBP1L,missense_variant,p.Val57Gly,ENST00000367547,NM_030933.2;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000497549,;SHCBP1L,upstream_gene_variant,,ENST00000467208,;AL450304.1,downstream_gene_variant,,ENST00000418657,; C ENSG00000157060 ENST00000367547 Transcript missense_variant 407/2317 170/1962 57/653 V/G gTg/gGg 1 -1 SHCBP1L HGNC HGNC:16788 protein_coding YES CCDS30955.1 ENSP00000356518 Q9BZQ2 UPI000006F7B9 NM_030933.2 tolerated_low_confidence(0.09) benign(0.003) 1/10 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14695,hmmpanther:PTHR14695:SF7 MODERATE 1 SNV 1 PASS CAC . . 182952964 LAMC1 . GRCh38 chr1 183023718 183023718 + Translation_Start_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2T>G p.Met1? p.M1? ENST00000258341 1/28 107 87 11 28 28 0 LAMC1,start_lost,p.Met1?,ENST00000258341,NM_002293.3;,regulatory_region_variant,,ENSR00000016778,; G ENSG00000135862 ENST00000258341 Transcript start_lost 259/7889 2/4830 1/1609 M/R aTg/aGg 1 1 LAMC1 HGNC HGNC:6492 protein_coding YES CCDS1351.1 ENSP00000258341 P11047 UPI000013CFC7 NM_002293.3 deleterious_low_confidence(0) benign(0) 1/28 Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257 HIGH 1 SNV 1 PASS ATG . . 183023718 CFH . GRCh38 chr1 196673103 196673103 + Missense_Mutation SNP G G A rs800292 7316-2156 BS_H9813KRS G G c.184G>A p.Val62Ile p.V62I ENST00000367429 2/22 128 115 8 47 47 0 CFH,missense_variant,p.Val62Ile,ENST00000367429,NM_000186.3;CFH,missense_variant,p.Val62Ile,ENST00000630130,NM_001014975.2;CFH,missense_variant,p.Val62Ile,ENST00000359637,;CFH,non_coding_transcript_exon_variant,,ENST00000496761,;CFH,upstream_gene_variant,,ENST00000466229,; A ENSG00000000971 ENST00000367429 Transcript missense_variant 424/4127 184/3696 62/1231 V/I Gta/Ata rs800292,CM062505,COSM146716 1 1 CFH HGNC HGNC:4883 protein_coding YES CCDS1385.1 ENSP00000356399 P08603 A0A024R962 UPI000013C4D1 NM_000186.3 tolerated(1) benign(0.001) 2/22 Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF373,SMART_domains:SM00032,Superfamily_domains:SSF57535,cd00033 0.4681 0.7912 0.4193 0.4067 0.2604 0.3425 0.7079 0.222 not_provided,benign,risk_factor 0,0,1 24120328,25205864,26648684,27730450,18162041,18787502,25537509,27252648,22509112,24860613,20161815,25558172,23381943,19961953,18541031,20385819,19861685,20203157,26559391,22666427,24675670,22174912,21394116,23919682,26171855,25388911,23577725,16080115,17314151,19259132,25883802,18043728,19796758,22035603,22059990,26152901,27239600,21637784,23873044,22534080,25132797,27257685,24453474,24692129,17167412,19026761,19958499,20181037,20961462,22618592,25276841,22936692,19825847,20157618,24865191,26861912,27832277,23620142,24069533,22714898,23864767,19556007,20157352,21609242,25732348,26217379,18421087,23289807,21555552,24865190,27241480,27258093,17591627,20132989,20678803,21811649,22046503,8072530,15870199,16299065,17022693,17877809,17947292,17962488,18316707,18515590,19187823,19823576,19933189,20538655,20581873,20689796,21397333,21784901,21850184,21856016,21896867,21899915,21909106,22019782,22065918,22065928,22536038,22558131,22876110,23103884,23111182,23233260,23289808,23687431,24365176,24393350,24403817,24520367 MODERATE 1 SNV 1 1,1,1 1 PASS TGT . . 0.3161 0.7265 0.3761 0.2672 0.4197 0.3012 0.2353 0.2735 0.3139 196673103 IGFN1 . GRCh38 chr1 201211236 201211236 + Missense_Mutation SNP G G A rs372410920 7316-2156 BS_H9813KRS G G c.6343G>A p.Gly2115Arg p.G2115R ENST00000335211 12/24 111 89 8 39 38 0 IGFN1,missense_variant,p.Gly2115Arg,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; A ENSG00000163395 ENST00000335211 Transcript missense_variant 6473/11810 6343/11127 2115/3708 G/R Gga/Aga rs372410920,COSM5956563 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.46) benign(0.44) 12/24 mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 6.584e-05 0.0008793 4.217e-05 1.78e-05 4.393e-05 201211236 KCNH1 . GRCh38 chr1 210684142 210684143 + Splice_Region DEL GA GA - rs796744833 7316-2156 BS_H9813KRS GA GA c.2113-5_2113-4del ENST00000271751 116 93 9 33 26 0 KCNH1,splice_region_variant,,ENST00000271751,NM_172362.2;KCNH1,splice_region_variant,,ENST00000367007,;KCNH1,splice_region_variant,,ENST00000638357,;KCNH1,splice_region_variant,,ENST00000638498,;KCNH1,splice_region_variant,,ENST00000639952,NM_002238.3;KCNH1,splice_region_variant,,ENST00000640044,;KCNH1,splice_region_variant,,ENST00000640566,;KCNH1,upstream_gene_variant,,ENST00000640625,;AC096636.1,downstream_gene_variant,,ENST00000625140,;KCNH1,splice_region_variant,,ENST00000638960,;KCNH1,splice_region_variant,,ENST00000640243,;KCNH1,splice_region_variant,,ENST00000640528,;KCNH1,splice_region_variant,,ENST00000640710,; - ENSG00000143473 ENST00000271751 Transcript splice_region_variant,intron_variant rs796744833,COSM1736013 1 -1 KCNH1 HGNC HGNC:6250 protein_coding YES CCDS1496.1 ENSP00000271751 O95259 UPI000003230D NM_172362.2 10/10 0,1 LOW 1 deletion 2 0,1 1 PASS TGGAG . . 0.02736 0.03112 0.03525 0.01923 0.03662 0.0273 0.0226 0.03121 0.0342 210684141 INTS7 . GRCh38 chr1 211968714 211968714 + Splice_Region SNP A A G rs771587547 7316-2156 BS_H9813KRS A A c.1816-7T>C ENST00000366994 83 66 6 39 34 0 INTS7,splice_region_variant,,ENST00000366992,NM_001199812.1;INTS7,splice_region_variant,,ENST00000366993,NM_001199811.1;INTS7,splice_region_variant,,ENST00000366994,NM_015434.3;INTS7,splice_region_variant,,ENST00000440600,NM_001199809.1;INTS7,upstream_gene_variant,,ENST00000612340,;INTS7,splice_region_variant,,ENST00000461212,;INTS7,splice_region_variant,,ENST00000469606,;INTS7,intron_variant,,ENST00000475798,;INTS7,upstream_gene_variant,,ENST00000462910,; G ENSG00000143493 ENST00000366994 Transcript splice_region_variant,intron_variant rs771587547,COSM3771621 1 -1 INTS7 HGNC HGNC:24484 protein_coding YES CCDS1501.1 ENSP00000355961 Q9NVH2 UPI000006FE2E NM_015434.3 13/19 0,1 LOW 1 SNV 1 0,1 PASS AAA . . 0.003265 0.006039 0.0036 0.00167 0.0001436 0.0005399 0.003545 0.003435 0.005666 211968714 ZC3H11B . GRCh38 chr1 219609953 219609955 + In_Frame_Del DEL CAT CAT - rs1374540842 7316-2156 BS_H9813KRS CAT CAT c.2108_2110del p.Asp703del p.D703del ENST00000636126 2/2 115 95 11 37 36 0 ZC3H11B,inframe_deletion,p.Asp703del,ENST00000636126,;ZC3H11B,inframe_deletion,p.Asp703del,ENST00000367211,;,regulatory_region_variant,,ENSR00000020323,; - ENSG00000215817 ENST00000636126 Transcript inframe_deletion 2824-2826/4432 2108-2110/2418 703-704/805 DA/A gATGct/gct rs1374540842 1 -1 ZC3H11B HGNC HGNC:25659 protein_coding YES ENSP00000489836 A0A1B0GTU1 UPI000013E86C 2/2 Low_complexity_(Seg):seg,hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2 MODERATE 1 deletion 2 PASS AGCATC . . 219609952 IRF2BP2 . GRCh38 chr1 234608840 234608840 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.655A>C p.Thr219Pro p.T219P ENST00000366609 1/2 108 89 13 38 36 2 IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366609,NM_182972.2;IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366610,NM_001077397.1;AL160408.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;,regulatory_region_variant,,ENSR00000257385,; G ENSG00000168264 ENST00000366609 Transcript missense_variant 686/4663 655/1764 219/587 T/P Acc/Ccc 1 -1 IRF2BP2 HGNC HGNC:21729 protein_coding YES CCDS1602.1 ENSP00000355568 Q7Z5L9 UPI000004FA32 NM_182972.2 tolerated(0.33) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18 MODERATE 1 SNV 1 1 PASS GTT . . 234608840 APOB . GRCh38 chr2 21005955 21005955 + Missense_Mutation SNP C C T rs1801701 7316-2156 BS_H9813KRS C C c.10913G>A p.Arg3638Gln p.R3638Q ENST00000233242 26/29 126 116 6 40 38 0 APOB,missense_variant,p.Arg3638Gln,ENST00000233242,NM_000384.2; T ENSG00000084674 ENST00000233242 Transcript missense_variant 11041/14121 10913/13692 3638/4563 R/Q cGg/cAg rs1801701,COSM3757925,COSM1178298 1 -1 APOB HGNC HGNC:603 protein_coding YES CCDS1703.1 ENSP00000233242 P04114 UPI0004620B75 NM_000384.2 tolerated(1) benign(0.001) 26/29 hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1 0.0385 0.0113 0.0994 0.001 0.0915 0.0164 0.02247 0.08977 likely_benign 0,1,1 25741868,21862702,24033266,22353362,25292352,15453913,29382324 MODERATE 1 SNV 1 1,1,1 1 PASS CCG . . 0.07025 0.02042 0.09858 0.05127 0.0003488 0.07206 0.09249 0.07753 0.02649 21005955 APOB . GRCh38 chr2 21011127 21011127 + Missense_Mutation SNP T T C rs1801699 7316-2156 BS_H9813KRS T T c.5741A>G p.Asn1914Ser p.N1914S ENST00000233242 26/29 153 137 6 40 40 0 APOB,missense_variant,p.Asn1914Ser,ENST00000233242,NM_000384.2; C ENSG00000084674 ENST00000233242 Transcript missense_variant 5869/14121 5741/13692 1914/4563 N/S aAt/aGt rs1801699,CM980091,COSM3695240 1 -1 APOB HGNC HGNC:603 protein_coding YES CCDS1703.1 ENSP00000233242 P04114 UPI0004620B75 NM_000384.2 deleterious(0.01) possibly_damaging(0.535) 26/29 hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1 0.0112 0.0447 0.001 0.0209 0.0031 0.004312 0.01802 benign 0,0,1 25741868,8960785,9490296,8889592 MODERATE 1 SNV 1 1,1,1 1 PASS ATT . . 0.02242 0.004379 0.06552 0.01574 0.000116 0.02736 0.0194 0.02537 0.005815 21011127 APOB . GRCh38 chr2 21019722 21019722 + Splice_Site SNP C C T novel 7316-2156 BS_H9813KRS C C c.2999+1G>A p.X1000_splice ENST00000233242 140 110 28 39 39 0 APOB,splice_donor_variant,,ENST00000233242,NM_000384.2;APOB,downstream_gene_variant,,ENST00000399256,;AC010872.1,upstream_gene_variant,,ENST00000624225,; T ENSG00000084674 ENST00000233242 Transcript splice_donor_variant 1 -1 APOB HGNC HGNC:603 protein_coding YES CCDS1703.1 ENSP00000233242 P04114 UPI0004620B75 NM_000384.2 19/28 HIGH 1 SNV 1 1 PASS ACC . . 21019722 DTNB . GRCh38 chr2 25388265 25388265 + Missense_Mutation SNP T T G rs1189548613 7316-2156 BS_H9813KRS T T c.1672A>C p.Thr558Pro p.T558P ENST00000406818 17/21 132 111 13 28 28 0 DTNB,missense_variant,p.Thr558Pro,ENST00000406818,NM_001320934.1,NM_021907.4;DTNB,missense_variant,p.Thr551Pro,ENST00000288642,NM_001256303.1;DTNB,missense_variant,p.Thr558Pro,ENST00000407661,NM_001320936.1,NM_001256304.1,NM_183360.2;DTNB,missense_variant,p.Thr558Pro,ENST00000404103,NM_033147.3;DTNB,missense_variant,p.Thr494Pro,ENST00000496972,NM_001320935.1,NM_001256308.2,NM_001320932.1;DTNB,missense_variant,p.Thr528Pro,ENST00000407038,NM_033148.3,NM_001351383.1;DTNB,missense_variant,p.Thr521Pro,ENST00000407186,NM_001320933.1;DTNB,missense_variant,p.Thr521Pro,ENST00000405222,NM_183361.2;DTNB,downstream_gene_variant,,ENST00000481841,;DTNB,upstream_gene_variant,,ENST00000497476,;DTNB,3_prime_UTR_variant,,ENST00000398951,;DTNB,3_prime_UTR_variant,,ENST00000356599,;DTNB,non_coding_transcript_exon_variant,,ENST00000479898,;DTNB,non_coding_transcript_exon_variant,,ENST00000489949,;DTNB,non_coding_transcript_exon_variant,,ENST00000482145,;DTNB,non_coding_transcript_exon_variant,,ENST00000498437,; G ENSG00000138101 ENST00000406818 Transcript missense_variant 1922/2474 1672/1884 558/627 T/P Acc/Ccc rs1189548613 1 -1 DTNB HGNC HGNC:3058 protein_coding YES CCDS46237.1 ENSP00000384084 O60941 UPI0000129949 NM_001320934.1,NM_021907.4 deleterious(0.03) possibly_damaging(0.709) 17/21 Gene3D:3.40.50.300,PIRSF_domain:PIRSF038204,hmmpanther:PTHR44075,hmmpanther:PTHR44075:SF2,mobidb-lite MODERATE 1 SNV 1 PASS GTG . . 1.721e-05 9.932e-05 1.898e-05 25388265 ASXL2 . GRCh38 chr2 25878221 25878221 + Translation_Start_Site SNP A A C 7316-2156 BS_H9813KRS A A c.2T>G p.Met1? p.M1? ENST00000435504 1/13 121 94 13 36 36 0 ASXL2,start_lost,p.Met1?,ENST00000435504,NM_018263.4;ASXL2,5_prime_UTR_variant,,ENST00000336112,;,regulatory_region_variant,,ENSR00000114223,; C ENSG00000143970 ENST00000435504 Transcript start_lost 296/12878 2/4308 1/1435 M/R aTg/aGg COSM4093301 1 -1 ASXL2 HGNC HGNC:23805 protein_coding ENSP00000391447 Q76L83 UPI00001DFBE8 NM_018263.4 deleterious(0) probably_damaging(0.944) 1/13 1 HIGH SNV 5 1 1 PASS CAT . . 25878221 GAREM2 . GRCh38 chr2 26187624 26187624 + Nonsense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.1992T>G p.Tyr664Ter p.Y664* ENST00000401533 6/6 98 83 10 43 43 0 GAREM2,stop_gained,p.Tyr664Ter,ENST00000401533,NM_001168241.1;GAREM2,intron_variant,,ENST00000407684,NM_001191033.1;HADHA,downstream_gene_variant,,ENST00000380649,NM_000182.4;HADHA,downstream_gene_variant,,ENST00000492433,;HADHA,downstream_gene_variant,,ENST00000645274,;GAREM2,downstream_gene_variant,,ENST00000496070,;HADHA,downstream_gene_variant,,ENST00000643057,;HADHA,downstream_gene_variant,,ENST00000643063,;HADHA,downstream_gene_variant,,ENST00000643233,;HADHA,downstream_gene_variant,,ENST00000644428,;HADHA,downstream_gene_variant,,ENST00000646031,;HADHA,downstream_gene_variant,,ENST00000646483,; G ENSG00000157833 ENST00000401533 Transcript stop_gained 2122/4161 1992/2625 664/874 Y/* taT/taG 1 1 GAREM2 HGNC HGNC:27172 protein_coding YES CCDS54336.1 ENSP00000384593 Q75VX8 UPI0000237273 NM_001168241.1 6/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF5 HIGH 1 SNV 1 PASS ATT . . 26187624 LTBP1 . GRCh38 chr2 32947715 32947715 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.391T>G p.Phe131Val p.F131V ENST00000404816 1/34 88 72 10 26 26 0 LTBP1,missense_variant,p.Phe131Val,ENST00000404816,NM_206943.2;RF00019,upstream_gene_variant,,ENST00000384224,;,regulatory_region_variant,,ENSR00000115043,; G ENSG00000049323 ENST00000404816 Transcript missense_variant 744/6333 391/5166 131/1721 F/V Ttc/Gtc 1 1 LTBP1 HGNC HGNC:6714 protein_coding YES CCDS33177.2 ENSP00000386043 Q14766 UPI000173A4A4 NM_206943.2 tolerated(0.19) benign(0.026) 1/34 mobidb-lite,hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,PIRSF_domain:PIRSF036312 MODERATE 1 SNV 5 PASS GTT . . 32947715 SIX3 . GRCh38 chr2 44942259 44942259 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.155A>C p.Asn52Thr p.N52T ENST00000260653 1/2 86 69 12 26 26 0 SIX3,missense_variant,p.Asn52Thr,ENST00000260653,NM_005413.3;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;LINC01833,upstream_gene_variant,,ENST00000437916,;LINC01833,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;RF02250,downstream_gene_variant,,ENST00000611000,;RF02251,downstream_gene_variant,,ENST00000620790,;RF02252,downstream_gene_variant,,ENST00000621512,;,regulatory_region_variant,,ENSR00000116339,; C ENSG00000138083 ENST00000260653 Transcript missense_variant 362/2523 155/999 52/332 N/T aAc/aCc 1 1 SIX3 HGNC HGNC:10889 protein_coding YES CCDS1821.1 ENSP00000260653 O95343 UPI00001359C4 NM_005413.3 tolerated_low_confidence(0.63) benign(0) 1/2 hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 44942259 EPCAM . GRCh38 chr2 47373967 47373967 + Missense_Mutation SNP T T C rs1126497 7316-2156 BS_H9813KRS T T c.344T>C p.Met115Thr p.M115T ENST00000263735 3/9 120 106 9 39 39 0 EPCAM,missense_variant,p.Met115Thr,ENST00000263735,NM_002354.2;EPCAM,missense_variant,p.Met143Thr,ENST00000405271,;EPCAM,missense_variant,p.Met191Thr,ENST00000419334,;MIR559,upstream_gene_variant,,ENST00000385188,;EPCAM,missense_variant,p.Met143Thr,ENST00000456133,;EPCAM,non_coding_transcript_exon_variant,,ENST00000490733,;EPCAM,non_coding_transcript_exon_variant,,ENST00000474691,;,regulatory_region_variant,,ENSR00000116834,;,regulatory_region_variant,,ENSR00000290805,; C ENSG00000119888 ENST00000263735 Transcript missense_variant 702/1724 344/945 115/314 M/T aTg/aCg rs1126497,CM1110060,COSM3927762 1 1 EPCAM HGNC HGNC:11529 protein_coding YES CCDS1833.1 ENSP00000263735 P16422 UPI000013D450 NM_002354.2 tolerated(1) benign(0) 3/9 PDB-ENSP_mappings:4mzv.A,PROSITE_profiles:PS51162,cd00191,hmmpanther:PTHR14168:SF2,hmmpanther:PTHR14168,PROSITE_patterns:PS00484,Gene3D:4.10.800.10,Pfam_domain:PF00086,SMART_domains:SM00211,Superfamily_domains:SSF57610 0.6661 0.8888 0.5159 0.8323 0.4692 0.5031 0.8282 0.4328 benign,likely_benign 0,0,1 25741868,22938532,26318430,20683652,22322561,26115884,27900359,24304228,22781090,24718422,29458332 MODERATE 1 SNV 1 1,1,1 1 PASS ATG . . 0.5124 0.8448 0.4716 0.3658 0.8317 0.598 0.4363 0.4717 0.4807 47373967 NRXN1 . GRCh38 chr2 51027791 51027791 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.483A>C p.Glu161Asp p.E161D ENST00000404971 2/24 100 88 9 26 24 0 NRXN1,missense_variant,p.Glu161Asp,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Glu161Asp,ENST00000625672,;NRXN1,missense_variant,p.Glu161Asp,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Glu161Asp,ENST00000401669,;NRXN1,missense_variant,p.Glu161Asp,ENST00000405472,;NRXN1,missense_variant,p.Glu161Asp,ENST00000405581,NM_001330079.1,NM_001330081.1;NRXN1,missense_variant,p.Glu161Asp,ENST00000630543,;NRXN1,missense_variant,p.Glu161Asp,ENST00000637511,;NRXN1,missense_variant,p.Glu161Asp,ENST00000628515,;NRXN1,missense_variant,p.Glu14Asp,ENST00000636066,;NRXN1,missense_variant,p.Glu161Asp,ENST00000626899,;NRXN1,missense_variant,p.Glu3Asp,ENST00000496792,;NRXN1,upstream_gene_variant,,ENST00000627198,;AC007402.1,upstream_gene_variant,,ENST00000440698,;NRXN1,downstream_gene_variant,,ENST00000635126,;NRXN1,downstream_gene_variant,,ENST00000635310,;NRXN1,downstream_gene_variant,,ENST00000636599,;NRXN1,downstream_gene_variant,,ENST00000637006,;NRXN1,upstream_gene_variant,,ENST00000637679,;NRXN1,downstream_gene_variant,,ENST00000638060,;,regulatory_region_variant,,ENSR00000290894,; G ENSG00000179915 ENST00000404971 Transcript missense_variant 1823/7578 483/4644 161/1547 E/D gaA/gaC 1 -1 NRXN1 HGNC HGNC:8008 protein_coding YES CCDS46282.1 ENSP00000385142 Q9ULB1 UPI00015A218A NM_001135659.1 tolerated(1) benign(0.014) 2/24 PROSITE_profiles:PS50025,cd00110,hmmpanther:PTHR44287,hmmpanther:PTHR44287:SF2,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899 MODERATE 1 SNV 1 1 PASS GTT . . 51027791 ALMS1 . GRCh38 chr2 73450434 73450434 + Missense_Mutation SNP A A G rs763425515 7316-2156 BS_H9813KRS A A c.3907A>G p.Ser1303Gly p.S1303G ENST00000613296 8/23 103 85 8 40 38 0 ALMS1,missense_variant,p.Ser1303Gly,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Ser1261Gly,ENST00000484298,;ALMS1,missense_variant,p.Ser1303Gly,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; G ENSG00000116127 ENST00000613296 Transcript missense_variant 4018/12925 3907/12507 1303/4168 S/G Agt/Ggt rs763425515 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 tolerated(0.21) benign(0) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS AAG . . 8.135e-06 2.98e-05 8.976e-06 73450434 TET3 . GRCh38 chr2 74101071 74101071 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.4283A>C p.Asn1428Thr p.N1428T ENST00000409262 11/11 107 90 11 37 36 0 TET3,missense_variant,p.Asn1428Thr,ENST00000409262,NM_001287491.1;TET3,missense_variant,p.Asn1335Thr,ENST00000305799,; C ENSG00000187605 ENST00000409262 Transcript missense_variant 4283/11388 4283/5388 1428/1795 N/T aAt/aCt 1 1 TET3 HGNC HGNC:28313 protein_coding YES CCDS46339.2 ENSP00000386869 O43151 UPI0002A87FCB NM_001287491.1 tolerated(0.29) benign(0.155) 11/11 Pfam_domain:PF12851,hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4,SMART_domains:SM01333,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 74101071 BOLA3 . GRCh38 chr2 74147829 74147829 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.46A>C p.Ile16Leu p.I16L ENST00000327428 1/4 111 94 11 28 28 0 BOLA3,missense_variant,p.Ile16Leu,ENST00000327428,NM_212552.2;BOLA3,missense_variant,p.Ile16Leu,ENST00000295326,NM_001035505.1;MOB1A,downstream_gene_variant,,ENST00000396049,NM_001317112.1,NM_018221.4,NM_001317110.1,NM_001317111.1;BOLA3-AS1,upstream_gene_variant,,ENST00000423477,;BOLA3-AS1,upstream_gene_variant,,ENST00000529783,;BOLA3-AS1,upstream_gene_variant,,ENST00000533563,;BOLA3,non_coding_transcript_exon_variant,,ENST00000469676,;BOLA3,non_coding_transcript_exon_variant,,ENST00000484655,;BOLA3,upstream_gene_variant,,ENST00000477685,;,regulatory_region_variant,,ENSR00000119130,; G ENSG00000163170 ENST00000327428 Transcript missense_variant 166/639 46/324 16/107 I/L Atc/Ctc 1 -1 BOLA3 HGNC HGNC:24415 protein_coding YES CCDS33225.1 ENSP00000331369 Q53S33 UPI00001D7CD7 NM_212552.2 tolerated(0.78) benign(0) 1/4 Superfamily_domains:SSF82657 MODERATE 1 SNV 1 1 PASS ATC . . 74147829 INO80B . GRCh38 chr2 74457373 74457373 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.580A>C p.Met194Leu p.M194L ENST00000233331 5/5 105 90 11 43 42 0 INO80B,missense_variant,p.Met194Leu,ENST00000233331,NM_031288.3;INO80B,missense_variant,p.Met199Leu,ENST00000409493,;INO80B,intron_variant,,ENST00000409917,;WBP1,upstream_gene_variant,,ENST00000233615,NM_012477.3;MOGS,downstream_gene_variant,,ENST00000233616,NM_006302.2;WBP1,upstream_gene_variant,,ENST00000393972,;MOGS,downstream_gene_variant,,ENST00000409065,;WBP1,upstream_gene_variant,,ENST00000409737,;WBP1,upstream_gene_variant,,ENST00000428943,;INO80B,downstream_gene_variant,,ENST00000431187,;MOGS,downstream_gene_variant,,ENST00000448666,;MOGS,downstream_gene_variant,,ENST00000452063,NM_001146158.1;INO80B,non_coding_transcript_exon_variant,,ENST00000469849,;INO80B,non_coding_transcript_exon_variant,,ENST00000494986,;WBP1,upstream_gene_variant,,ENST00000464774,;WBP1,upstream_gene_variant,,ENST00000466835,;WBP1,upstream_gene_variant,,ENST00000470536,;WBP1,upstream_gene_variant,,ENST00000474185,;WBP1,upstream_gene_variant,,ENST00000494741,;INO80B-WBP1,missense_variant,p.Met194Leu,ENST00000452361,;INO80B-WBP1,missense_variant,p.Met194Leu,ENST00000441673,;INO80B,3_prime_UTR_variant,,ENST00000455562,;INO80B,non_coding_transcript_exon_variant,,ENST00000473618,;MOGS,downstream_gene_variant,,ENST00000462189,;WBP1,upstream_gene_variant,,ENST00000466303,;INO80B,downstream_gene_variant,,ENST00000471577,;WBP1,upstream_gene_variant,,ENST00000473467,;WBP1,upstream_gene_variant,,ENST00000484744,;WBP1,upstream_gene_variant,,ENST00000490120,;WBP1,upstream_gene_variant,,ENST00000492047,; C ENSG00000115274 ENST00000233331 Transcript missense_variant 674/1261 580/1071 194/356 M/L Atg/Ctg 1 1 INO80B HGNC HGNC:13324 protein_coding YES CCDS1942.2 ENSP00000233331 Q9C086 UPI0000456DE1 NM_031288.3 tolerated(1) benign(0) 5/5 hmmpanther:PTHR21561,hmmpanther:PTHR21561:SF12 MODERATE 1 SNV 1 PASS TAT . . 74457373 CCDC142 . GRCh38 chr2 74482772 74482772 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.66A>C p.Gln22His p.Q22H ENST00000290418 1/9 113 96 14 23 23 0 CCDC142,missense_variant,p.Gln22His,ENST00000393965,;CCDC142,missense_variant,p.Gln22His,ENST00000290418,NM_032779.3;TTC31,upstream_gene_variant,,ENST00000233623,NM_022492.4;TTC31,upstream_gene_variant,,ENST00000410003,;TTC31,upstream_gene_variant,,ENST00000442235,;CCDC142,intron_variant,,ENST00000471713,;CCDC142,intron_variant,,ENST00000474681,;TTC31,upstream_gene_variant,,ENST00000463189,;TTC31,upstream_gene_variant,,ENST00000424122,;TTC31,upstream_gene_variant,,ENST00000449459,;CCDC142,upstream_gene_variant,,ENST00000454193,;TTC31,upstream_gene_variant,,ENST00000459957,;TTC31,upstream_gene_variant,,ENST00000463704,;TTC31,upstream_gene_variant,,ENST00000464241,;CCDC142,upstream_gene_variant,,ENST00000472962,;TTC31,upstream_gene_variant,,ENST00000489152,;TTC31,upstream_gene_variant,,ENST00000491252,;CCDC142,upstream_gene_variant,,ENST00000497232,;,regulatory_region_variant,,ENSR00000119170,; G ENSG00000135637 ENST00000290418 Transcript missense_variant 225/2835 66/2232 22/743 Q/H caA/caC 1 -1 CCDC142 HGNC HGNC:25889 protein_coding YES CCDS1945.1 ENSP00000290418 Q17RM4 UPI000013CFB5 NM_032779.3 tolerated_low_confidence(0.16) benign(0.005) 1/9 mobidb-lite,hmmpanther:PTHR21436 MODERATE SNV 2 PASS GTT . . 74482772 TMSB10 . GRCh38 chr2 84906118 84906118 + Splice_Site SNP G G C novel 7316-2156 BS_H9813KRS G G c.100+1G>C p.X34_splice ENST00000233143 127 115 8 29 29 0 TMSB10,splice_donor_variant,,ENST00000233143,NM_021103.3;TRABD2A,intron_variant,,ENST00000474298,;TRABD2A,intron_variant,,ENST00000489999,;,regulatory_region_variant,,ENSR00000119485,; C ENSG00000034510 ENST00000233143 Transcript splice_donor_variant 1 1 TMSB10 HGNC HGNC:11879 protein_coding YES CCDS1970.1 ENSP00000233143 P63313 UPI0000001110 NM_021103.3 2/2 HIGH 1 SNV 1 PASS AGT . . 84906118 TCF7L1 . GRCh38 chr2 85303933 85303933 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.697T>G p.Tyr233Asp p.Y233D ENST00000282111 6/12 117 100 10 35 33 0 TCF7L1,missense_variant,p.Tyr233Asp,ENST00000282111,NM_031283.2;TCF7L1,downstream_gene_variant,,ENST00000442813,;TCF7L1,non_coding_transcript_exon_variant,,ENST00000490744,; G ENSG00000152284 ENST00000282111 Transcript missense_variant 972/2968 697/1767 233/588 Y/D Tat/Gat 1 1 TCF7L1 HGNC HGNC:11640 protein_coding YES CCDS1971.1 ENSP00000282111 Q9HCS4 UPI0000136846 NM_031283.2 deleterious(0) probably_damaging(0.999) 6/12 Pfam_domain:PF08347,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF25,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTA . . 85303933 IGKV4-1 . GRCh38 chr2 88885935 88885935 + Missense_Mutation SNP G G C rs138603647 7316-2156 BS_H9813KRS G G c.145G>C p.Val49Leu p.V49L ENST00000390243 2/2 138 121 6 32 32 0 IGKV4-1,missense_variant,p.Val49Leu,ENST00000390243,; C ENSG00000211598 ENST00000390243 Transcript missense_variant 320/538 145/363 49/121 V/L Gtt/Ctt rs138603647 1 1 IGKV4-1 HGNC HGNC:5834 IG_V_gene YES ENSP00000374778 P06312 UPI0000113B70 tolerated(1) benign(0) 2/2 PDB-ENSP_mappings:1eeq.A,PDB-ENSP_mappings:1eeq.B,PDB-ENSP_mappings:1eeu.A,PDB-ENSP_mappings:1eeu.B,PDB-ENSP_mappings:1efq.A,PDB-ENSP_mappings:1ek3.A,PDB-ENSP_mappings:1ek3.B,PDB-ENSP_mappings:1lve.A,PDB-ENSP_mappings:1qac.A,PDB-ENSP_mappings:1qac.B,PDB-ENSP_mappings:2lve.A,PDB-ENSP_mappings:3lve.A,PDB-ENSP_mappings:4lve.A,PDB-ENSP_mappings:4lve.B,PDB-ENSP_mappings:5lve.A MODERATE 1 SNV PASS TGT . . 8.695e-05 6.638e-05 0.00012 0.0002105 5.832e-05 0.0001203 88885935 IGKV1-5 . GRCh38 chr2 88947419 88947419 + Missense_Mutation SNP C C T rs533620047 7316-2156 BS_H9813KRS C C c.233G>A p.Ser78Asn p.S78N ENST00000496168 2/2 141 121 6 35 35 0 IGKV1-5,missense_variant,p.Ser78Asn,ENST00000496168,; T ENSG00000243466 ENST00000496168 Transcript missense_variant 414/532 233/351 78/117 S/N aGt/aAt rs533620047 1 -1 IGKV1-5 HGNC HGNC:5741 IG_V_gene YES ENSP00000420436 P01602 UPI0000140AA1 deleterious(0.02) benign(0.147) 2/2 0.0006 0.0015 0.001 MODERATE 1 SNV PASS ACT . . 2.062e-05 0.0001319 1.843e-05 0.000184 88947419 IGKV1-5 . GRCh38 chr2 88947494 88947494 + Missense_Mutation SNP C C T rs146302149 7316-2156 BS_H9813KRS C C c.158G>A p.Ser53Asn p.S53N ENST00000496168 2/2 127 112 6 38 38 0 IGKV1-5,missense_variant,p.Ser53Asn,ENST00000496168,; T ENSG00000243466 ENST00000496168 Transcript missense_variant 339/532 158/351 53/117 S/N aGc/aAc rs146302149 1 -1 IGKV1-5 HGNC HGNC:5741 IG_V_gene YES ENSP00000420436 P01602 UPI0000140AA1 tolerated(0.95) benign(0) 2/2 0.0002596 0.0001212 MODERATE 1 SNV PASS GCT . . 0.0002064 0.0007268 0.0001496 0.0003128 0.0001163 0.0002306 0.0001842 9.757e-05 88947494 IGKV3-20 . GRCh38 chr2 89142710 89142710 + Missense_Mutation SNP C C G rs1134775 7316-2156 BS_H9813KRS C C c.212G>C p.Gly71Ala p.G71A ENST00000492167 2/2 198 153 25 33 33 0 IGKV3-20,missense_variant,p.Gly71Ala,ENST00000492167,; G ENSG00000239951 ENST00000492167 Transcript missense_variant 264/400 212/348 71/116 G/A gGt/gCt rs1134775 1 -1 IGKV3-20 HGNC HGNC:5817 IG_V_gene YES ENSP00000418649 P01619 UPI0000113B59 tolerated(0.62) benign(0.007) 2/2 PDB-ENSP_mappings:4lrn.L,PDB-ENSP_mappings:4m62.L,PDB-ENSP_mappings:4m62.M,PDB-ENSP_mappings:4m8q.B,PDB-ENSP_mappings:4m8q.L,PDB-ENSP_mappings:4ob5.L,PDB-ENSP_mappings:4odx.B,PDB-ENSP_mappings:4odx.L 0.0008 0.0015 0.0014 0.001 MODERATE 1 SNV PASS ACC . . 3.297e-05 6.787e-05 2.982e-05 0.0002042 2.757e-05 0.0001837 89142710 POTEE . GRCh38 chr2 131263862 131263862 + Missense_Mutation SNP A A G rs759642148 7316-2156 BS_H9813KRS A A c.2407A>G p.Ile803Val p.I803V ENST00000356920 15/15 168 110 53 32 32 0 POTEE,missense_variant,p.Ile803Val,ENST00000356920,NM_001083538.1;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,downstream_gene_variant,,ENST00000613282,;POTEE,downstream_gene_variant,,ENST00000626191,;POTEE,downstream_gene_variant,,ENST00000358087,;POTEE,downstream_gene_variant,,ENST00000514256,;,regulatory_region_variant,,ENSR00000293575,; G ENSG00000188219 ENST00000356920 Transcript missense_variant 2743/4159 2407/3228 803/1075 I/V Atc/Gtc rs759642148,COSM5621569 1 1 POTEE HGNC HGNC:33895 protein_coding YES CCDS46414.1 ENSP00000439189 Q6S8J3 UPI0000F58EC8 NM_001083538.1 tolerated_low_confidence(1) benign(0.009) 15/15 cd00012,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 3.276e-05 8.933e-05 0.000116 0.0001345 131263862 POTEE . GRCh38 chr2 131263864 131263864 + Missense_Mutation SNP C C G rs558694824 7316-2156 BS_H9813KRS C C c.2409C>G p.Ile803Met p.I803M ENST00000356920 15/15 168 111 53 34 34 0 POTEE,missense_variant,p.Ile803Met,ENST00000356920,NM_001083538.1;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,downstream_gene_variant,,ENST00000613282,;POTEE,downstream_gene_variant,,ENST00000626191,;POTEE,downstream_gene_variant,,ENST00000358087,;POTEE,downstream_gene_variant,,ENST00000514256,;,regulatory_region_variant,,ENSR00000293575,; G ENSG00000188219 ENST00000356920 Transcript missense_variant 2745/4159 2409/3228 803/1075 I/M atC/atG rs558694824,COSM5621570,COSM3894760 1 1 POTEE HGNC HGNC:33895 protein_coding YES CCDS46414.1 ENSP00000439189 Q6S8J3 UPI0000F58EC8 NM_001083538.1 tolerated_low_confidence(0.2) benign(0.075) 15/15 cd00012,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067 0.0002 0.0008 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TCC . . 4.095e-06 6.854e-05 131263864 LRP1B . GRCh38 chr2 140702222 140702222 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.6221A>C p.Asn2074Thr p.N2074T ENST00000389484 39/91 115 94 14 58 58 0 LRP1B,missense_variant,p.Asn2074Thr,ENST00000389484,NM_018557.2; G ENSG00000168702 ENST00000389484 Transcript missense_variant 7193/16535 6221/13800 2074/4599 N/T aAt/aCt 1 -1 LRP1B HGNC HGNC:6693 protein_coding YES CCDS2182.1 ENSP00000374135 Q9NZR2 UPI00001B045B NM_018557.2 deleterious(0.01) benign(0.014) 39/91 Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR44025,hmmpanther:PTHR44025:SF7,SMART_domains:SM00135,Superfamily_domains:SSF63825 MODERATE 1 SNV 1 1 PASS ATT . . 140702222 AGPS . GRCh38 chr2 177436993 177436993 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.576T>G p.His192Gln p.H192Q ENST00000264167 5/20 105 93 11 36 34 0 AGPS,missense_variant,p.His192Gln,ENST00000264167,NM_003659.3;AGPS,missense_variant,p.His76Gln,ENST00000642466,;AGPS,missense_variant,p.His106Gln,ENST00000637633,;AGPS,intron_variant,,ENST00000409888,;AGPS,non_coding_transcript_exon_variant,,ENST00000460342,; G ENSG00000018510 ENST00000264167 Transcript missense_variant 722/7764 576/1977 192/658 H/Q caT/caG 1 1 AGPS HGNC HGNC:327 protein_coding YES CCDS2275.1 ENSP00000264167 O00116 UPI00001254E8 NM_003659.3 tolerated(0.22) benign(0.082) 5/20 hmmpanther:PTHR11748,hmmpanther:PTHR11748:SF3,Gene3D:3.30.43.10,Superfamily_domains:SSF56176 MODERATE 1 SNV 1 1 PASS ATG . . 177436993 TTN . GRCh38 chr2 178562809 178562809 + Missense_Mutation SNP T T C rs3829746 7316-2156 BS_H9813KRS T T c.83323A>G p.Ile27775Val p.I27775V ENST00000589042 326/363 107 96 8 51 50 0 TTN,missense_variant,p.Ile27775Val,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ile26134Val,ENST00000591111,;TTN,missense_variant,p.Ile26134Val,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ile25207Val,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Ile18710Val,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ile18902Val,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Ile18835Val,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000630096,;AC009948.5,downstream_gene_variant,,ENST00000624360,; C ENSG00000155657 ENST00000589042 Transcript missense_variant 83548/109224 83323/107976 27775/35991 I/V Ata/Gta rs3829746 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 benign(0) 326/363 Gene3D:2.20.25.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 0.5084 0.5658 0.4078 0.7153 0.2535 0.5511 0.5317 0.2229 benign,likely_benign 25741868,24033266,23757202,18414213,23861362,27681629,29367538 MODERATE SNV 5 1 1 PASS ATG . . 0.3519 0.5448 0.4277 0.2814 0.7027 0.2782 0.2261 0.3101 0.5153 178562809 TTN . GRCh38 chr2 178652698 178652698 + Missense_Mutation SNP C C T rs777877044 7316-2156 BS_H9813KRS C C c.38998G>A p.Val13000Met p.V13000M ENST00000589042 201/363 100 78 7 40 38 0 TTN,missense_variant,p.Val13000Met,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; T ENSG00000155657 ENST00000589042 Transcript missense_variant 39223/109224 38998/107976 13000/35991 V/M Gtg/Atg rs777877044 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 unknown(0) 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ACT . . 8.207e-06 1.819e-05 178652698 TTN . GRCh38 chr2 178652735 178652735 + Splice_Region SNP T T A novel 7316-2156 BS_H9813KRS T T c.38961A>T p.Val12987= p.V12987= ENST00000589042 201/363 102 70 17 36 33 0 TTN,splice_region_variant,p.Val12987=,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; A ENSG00000155657 ENST00000589042 Transcript splice_region_variant,synonymous_variant 39186/109224 38961/107976 12987/35991 V gtA/gtT 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg LOW 1 SNV 5 1 PASS GTA . . 178652735 COL3A1 . GRCh38 chr2 188990095 188990095 + Splice_Site SNP G G T novel 7316-2156 BS_H9813KRS G G c.691-1G>T p.X231_splice ENST00000304636 109 97 9 38 36 0 COL3A1,splice_acceptor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_acceptor_variant,,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000450867,;COL3A1,downstream_gene_variant,,ENST00000470167,; T ENSG00000168542 ENST00000304636 Transcript splice_acceptor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 8/50 HIGH 1 SNV 1 1 PASS AGG . . 188990095 COL3A1 . GRCh38 chr2 188991059 188991059 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.852+2T>G p.X284_splice ENST00000304636 116 108 7 48 47 0 COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_donor_variant,,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000450867,;MIR3606,upstream_gene_variant,,ENST00000637672,; G ENSG00000168542 ENST00000304636 Transcript splice_donor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 11/50 HIGH 1 SNV 1 1 PASS GTA . . 188991059 COL3A1 . GRCh38 chr2 188991724 188991724 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.951+2T>G p.X317_splice ENST00000304636 116 104 7 39 39 0 COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_donor_variant,,ENST00000317840,;COL3A1,splice_donor_variant,,ENST00000450867,;MIR3606,upstream_gene_variant,,ENST00000637672,; G ENSG00000168542 ENST00000304636 Transcript splice_donor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 13/50 HIGH 1 SNV 1 1 PASS GTG . . 188991724 COL3A1 . GRCh38 chr2 188992942 188992942 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.1050+2T>G p.X350_splice ENST00000304636 127 118 7 39 39 0 COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_donor_variant,,ENST00000317840,;COL3A1,splice_donor_variant,,ENST00000450867,;MIR3606,upstream_gene_variant,,ENST00000637672,; G ENSG00000168542 ENST00000304636 Transcript splice_donor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 15/50 HIGH 1 SNV 1 1 PASS GTA . . 188992942 COL3A1 . GRCh38 chr2 188994833 188994833 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.1455+2T>G p.X485_splice ENST00000304636 147 99 17 47 46 0 COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_donor_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;MIR3606,upstream_gene_variant,,ENST00000637672,; G ENSG00000168542 ENST00000304636 Transcript splice_donor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 20/50 HIGH 1 SNV 1 1 PASS GTA . . 188994833 COL3A1 . GRCh38 chr2 188995044 188995044 + Splice_Site SNP A A G novel 7316-2156 BS_H9813KRS A A c.1456-2A>G p.X486_splice ENST00000304636 130 120 8 45 44 0 COL3A1,splice_acceptor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_acceptor_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;MIR3606,upstream_gene_variant,,ENST00000637672,; G ENSG00000168542 ENST00000304636 Transcript splice_acceptor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 20/50 HIGH 1 SNV 1 1 PASS CAG . . 188995044 COL3A1 . GRCh38 chr2 188995101 188995101 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.1509+2T>G p.X503_splice ENST00000304636 132 115 13 41 40 0 COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_donor_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;MIR3606,upstream_gene_variant,,ENST00000637672,; G ENSG00000168542 ENST00000304636 Transcript splice_donor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 21/50 HIGH 1 SNV 1 1 PASS GTA . . 188995101 COL3A1 . GRCh38 chr2 188997333 188997333 + Splice_Region SNP T T C novel 7316-2156 BS_H9813KRS T T c.1816-3T>C ENST00000304636 116 101 8 31 31 0 COL3A1,splice_region_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_region_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;MIR3606,downstream_gene_variant,,ENST00000637672,;,regulatory_region_variant,,ENSR00000127673,; C ENSG00000168542 ENST00000304636 Transcript splice_region_variant,intron_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 25/50 LOW 1 SNV 1 1 PASS TTA . . 188997333 COL3A1 . GRCh38 chr2 188998720 188998720 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2022+2T>G p.X674_splice ENST00000304636 203 96 10 40 40 0 COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_donor_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;MIR3606,downstream_gene_variant,,ENST00000637672,;COL3A1,upstream_gene_variant,,ENST00000467886,; G ENSG00000168542 ENST00000304636 Transcript splice_donor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 29/50 HIGH 1 SNV 1 1 PASS GTA . . 188998720 COL3A1 . GRCh38 chr2 189001452 189001452 + Splice_Site SNP T T G 7316-2156 BS_H9813KRS T T c.2337+2T>G p.X779_splice ENST00000304636 125 109 14 45 44 0 COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_donor_variant,,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000467886,; G ENSG00000168542 ENST00000304636 Transcript splice_donor_variant CS971687 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 33/50 HIGH 1 SNV 1 1 1 PASS GTA . . 189001452 COL3A1 . GRCh38 chr2 189003789 189003789 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2661+2T>G p.X887_splice ENST00000304636 126 117 6 40 38 0 COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,non_coding_transcript_exon_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,; G ENSG00000168542 ENST00000304636 Transcript splice_donor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 38/50 HIGH 1 SNV 1 1 PASS GTA . . 189003789 COL3A1 . GRCh38 chr2 189003981 189003981 + Splice_Site SNP G G T novel 7316-2156 BS_H9813KRS G G c.2662-1G>T p.X888_splice ENST00000304636 132 97 31 37 37 0 COL3A1,splice_acceptor_variant,,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,; T ENSG00000168542 ENST00000304636 Transcript splice_acceptor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 38/50 HIGH 1 SNV 1 1 PASS AGG . . 189003981 COL3A1 . GRCh38 chr2 189004145 189004145 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2823+2T>G p.X941_splice ENST00000304636 91 81 7 32 32 0 COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,; G ENSG00000168542 ENST00000304636 Transcript splice_donor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 39/50 HIGH 1 SNV 1 1 PASS GTA . . 189004145 COL3A1 . GRCh38 chr2 189004256 189004256 + Splice_Site SNP G G A rs587779617 7316-2156 BS_H9813KRS G G c.2824-1G>A p.X942_splice ENST00000304636 107 96 6 39 38 0 COL3A1,splice_acceptor_variant,,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,; A ENSG00000168542 ENST00000304636 Transcript splice_acceptor_variant rs587779617,CS116431 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 39/50 pathogenic 21637106 HIGH 1 SNV 1 1,1 1 PASS AGG . . 189004256 COL3A1 . GRCh38 chr2 189004351 189004351 + Missense_Mutation SNP C C T rs543104831 7316-2156 BS_H9813KRS C C c.2918C>T p.Pro973Leu p.P973L ENST00000304636 40/51 336 212 117 40 40 0 COL3A1,missense_variant,p.Pro973Leu,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,; T ENSG00000168542 ENST00000304636 Transcript missense_variant 3088/5543 2918/4401 973/1466 P/L cCt/cTt rs543104831 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 tolerated(1) benign(0.011) 40/51 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604,Pfam_domain:PF01391,Gene3D:2.160.20.50 0.0002 0.0014 MODERATE 1 SNV 1 1 PASS CCT . . 4.669e-06 3.326e-05 189004351 COL3A1 . GRCh38 chr2 189004366 189004366 + Splice_Site SNP T T G 7316-2156 BS_H9813KRS T T c.2931+2T>G p.X977_splice ENST00000304636 122 110 8 40 40 0 COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,; G ENSG00000168542 ENST00000304636 Transcript splice_donor_variant CS105934 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 40/50 HIGH 1 SNV 1 1 1 PASS GTG . . 189004366 COL3A1 . GRCh38 chr2 189006205 189006205 + Splice_Site SNP G G T rs112883329 7316-2156 BS_H9813KRS G G c.3040-1G>T p.X1014_splice ENST00000304636 109 92 14 39 39 0 COL3A1,splice_acceptor_variant,,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,; T ENSG00000168542 ENST00000304636 Transcript splice_acceptor_variant rs112883329 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 41/50 HIGH 1 SNV 1 1 PASS AGG . . 189006205 COL3A1 . GRCh38 chr2 189006384 189006384 + Missense_Mutation SNP G G A rs149722210 7316-2156 BS_H9813KRS G G c.3133G>A p.Ala1045Thr p.A1045T ENST00000304636 43/51 343 302 27 38 36 0 COL3A1,missense_variant,p.Ala1045Thr,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,; A ENSG00000168542 ENST00000304636 Transcript missense_variant 3303/5543 3133/4401 1045/1466 A/T Gct/Act rs149722210,CM122890 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 tolerated(0.09) possibly_damaging(0.772) 43/51 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604 0.0018 0.0069 0.001 0.001 0.0004539 uncertain_significance,benign 25637381 MODERATE 1 SNV 1 1,1 1 PASS CGC . . 0.0005687 0.000196 5.956e-05 0.0001016 0.005455 8.958e-05 0.0001823 0.0009421 189006384 COL3A1 . GRCh38 chr2 189010644 189010644 + Splice_Region SNP A A T rs1201168065 7316-2156 BS_H9813KRS A A c.4012-4A>T ENST00000304636 129 115 9 36 36 0 COL3A1,splice_region_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_region_variant,,ENST00000317840,;COL3A1,non_coding_transcript_exon_variant,,ENST00000487010,; T ENSG00000168542 ENST00000304636 Transcript splice_region_variant,intron_variant rs1201168065 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 49/50 LOW 1 SNV 1 1 PASS TAC . . 189010644 COL3A1 . GRCh38 chr2 189011626 189011626 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.4255-2A>C p.X1419_splice ENST00000304636 106 98 6 36 36 0 COL3A1,splice_acceptor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_acceptor_variant,,ENST00000317840,;COL3A1,splice_acceptor_variant,,ENST00000487010,; C ENSG00000168542 ENST00000304636 Transcript splice_acceptor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 50/50 HIGH 1 SNV 1 1 PASS CAG . . 189011626 FN1 . GRCh38 chr2 215375395 215375395 + Splice_Site SNP T T A rs112585506 7316-2156 BS_H9813KRS T T c.5978-2A>T p.X1993_splice ENST00000354785 209 103 8 47 45 0 FN1,splice_acceptor_variant,,ENST00000323926,NM_001306129.1;FN1,splice_acceptor_variant,,ENST00000336916,NM_002026.3;FN1,splice_acceptor_variant,,ENST00000354785,NM_212482.2;FN1,splice_acceptor_variant,,ENST00000356005,NM_212476.2;FN1,splice_acceptor_variant,,ENST00000357867,NM_212474.2;FN1,splice_acceptor_variant,,ENST00000359671,;FN1,splice_acceptor_variant,,ENST00000421182,NM_001306132.1;FN1,splice_acceptor_variant,,ENST00000432072,NM_001306130.1;FN1,splice_acceptor_variant,,ENST00000438981,;FN1,splice_acceptor_variant,,ENST00000443816,NM_001306131.1;FN1,splice_acceptor_variant,,ENST00000446046,NM_212478.2;FN1,splice_acceptor_variant,,ENST00000456923,;FN1,downstream_gene_variant,,ENST00000490833,;FN1,splice_acceptor_variant,,ENST00000460217,;FN1,splice_acceptor_variant,,ENST00000492816,;FN1,upstream_gene_variant,,ENST00000461974,;FN1,downstream_gene_variant,,ENST00000474036,;FN1,upstream_gene_variant,,ENST00000480024,;FN1,upstream_gene_variant,,ENST00000485567,; A ENSG00000115414 ENST00000354785 Transcript splice_acceptor_variant rs112585506 1 -1 FN1 HGNC HGNC:3778 protein_coding YES CCDS42814.1 ENSP00000346839 P02751 UPI0000E5A2B5 NM_212482.2 37/45 HIGH 1 SNV 1 1 PASS CTG . . 215375395 FN1 . GRCh38 chr2 215409932 215409932 + Splice_Site SNP A A G rs111499007 7316-2156 BS_H9813KRS A A c.2122+2T>C p.X708_splice ENST00000354785 120 100 13 37 36 1 FN1,splice_donor_variant,,ENST00000323926,NM_001306129.1;FN1,splice_donor_variant,,ENST00000336916,NM_002026.3;FN1,splice_donor_variant,,ENST00000354785,NM_212482.2;FN1,splice_donor_variant,,ENST00000356005,NM_212476.2;FN1,splice_donor_variant,,ENST00000357867,NM_212474.2;FN1,splice_donor_variant,,ENST00000359671,;FN1,splice_donor_variant,,ENST00000421182,NM_001306132.1;FN1,splice_donor_variant,,ENST00000432072,NM_001306130.1;FN1,splice_donor_variant,,ENST00000443816,NM_001306131.1;FN1,splice_donor_variant,,ENST00000446046,NM_212478.2;FN1,downstream_gene_variant,,ENST00000426059,NM_054034.2;FN1,non_coding_transcript_exon_variant,,ENST00000471193,; G ENSG00000115414 ENST00000354785 Transcript splice_donor_variant rs111499007,COSM6665708,COSM6665707 1 -1 FN1 HGNC HGNC:3778 protein_coding YES CCDS42814.1 ENSP00000346839 P02751 UPI0000E5A2B5 NM_212482.2 14/45 0,1,1 HIGH 1 SNV 1 0,1,1 1 PASS TAC . . 215409932 FN1 . GRCh38 chr2 215414959 215414959 + Splice_Site SNP C C T novel 7316-2156 BS_H9813KRS C C c.1820-1G>A p.X607_splice ENST00000354785 106 93 8 33 33 0 FN1,splice_acceptor_variant,,ENST00000323926,NM_001306129.1;FN1,splice_acceptor_variant,,ENST00000336916,NM_002026.3;FN1,splice_acceptor_variant,,ENST00000354785,NM_212482.2;FN1,splice_acceptor_variant,,ENST00000356005,NM_212476.2;FN1,splice_acceptor_variant,,ENST00000357867,NM_212474.2;FN1,splice_acceptor_variant,,ENST00000359671,;FN1,splice_acceptor_variant,,ENST00000421182,NM_001306132.1;FN1,splice_acceptor_variant,,ENST00000426059,NM_054034.2;FN1,splice_acceptor_variant,,ENST00000432072,NM_001306130.1;FN1,splice_acceptor_variant,,ENST00000443816,NM_001306131.1;FN1,splice_acceptor_variant,,ENST00000446046,NM_212478.2;FN1,downstream_gene_variant,,ENST00000496542,; T ENSG00000115414 ENST00000354785 Transcript splice_acceptor_variant 1 -1 FN1 HGNC HGNC:3778 protein_coding YES CCDS42814.1 ENSP00000346839 P02751 UPI0000E5A2B5 NM_212482.2 12/45 HIGH 1 SNV 1 1 PASS CCT . . 215414959 FN1 . GRCh38 chr2 215422245 215422245 + Splice_Site SNP T T A novel 7316-2156 BS_H9813KRS T T c.1394-2A>T p.X465_splice ENST00000354785 106 99 6 33 32 0 FN1,splice_acceptor_variant,,ENST00000323926,NM_001306129.1;FN1,splice_acceptor_variant,,ENST00000336916,NM_002026.3;FN1,splice_acceptor_variant,,ENST00000354785,NM_212482.2;FN1,splice_acceptor_variant,,ENST00000356005,NM_212476.2;FN1,splice_acceptor_variant,,ENST00000357867,NM_212474.2;FN1,splice_acceptor_variant,,ENST00000359671,;FN1,splice_acceptor_variant,,ENST00000421182,NM_001306132.1;FN1,splice_acceptor_variant,,ENST00000426059,NM_054034.2;FN1,splice_acceptor_variant,,ENST00000432072,NM_001306130.1;FN1,splice_acceptor_variant,,ENST00000443816,NM_001306131.1;FN1,splice_acceptor_variant,,ENST00000446046,NM_212478.2;FN1,upstream_gene_variant,,ENST00000496542,; A ENSG00000115414 ENST00000354785 Transcript splice_acceptor_variant 1 -1 FN1 HGNC HGNC:3778 protein_coding YES CCDS42814.1 ENSP00000346839 P02751 UPI0000E5A2B5 NM_212482.2 9/45 HIGH 1 SNV 1 1 PASS CTG . . 215422245 IGFBP2 . GRCh38 chr2 216660692 216660692 + Missense_Mutation SNP A A G novel 7316-2156 BS_H9813KRS A A c.578A>G p.Glu193Gly p.E193G ENST00000233809 2/4 102 93 5 40 37 0 IGFBP2,missense_variant,p.Glu193Gly,ENST00000233809,NM_000597.2,NM_001313992.1,NM_001313993.1;IGFBP2,missense_variant,p.Glu49Gly,ENST00000456764,NM_001313990.1;IGFBP2,missense_variant,p.Glu27Gly,ENST00000434997,;IGFBP2,upstream_gene_variant,,ENST00000436812,;IGFBP2,non_coding_transcript_exon_variant,,ENST00000490362,; G ENSG00000115457 ENST00000233809 Transcript missense_variant 707/1439 578/978 193/325 E/G gAg/gGg 1 1 IGFBP2 HGNC HGNC:5471 protein_coding YES CCDS42815.1 ENSP00000233809 P18065 UPI000013C98D NM_000597.2,NM_001313992.1,NM_001313993.1 deleterious(0.01) possibly_damaging(0.681) 2/4 hmmpanther:PTHR11551:SF5,hmmpanther:PTHR11551 MODERATE 1 SNV 1 PASS GAG . . 216660692 CDK5R2 . GRCh38 chr2 218959821 218959821 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1A>C p.Met1? p.M1? ENST00000302625 1/1 94 80 6 33 31 0 CDK5R2,start_lost,p.Met1?,ENST00000302625,NM_003936.4;AC097468.2,intron_variant,,ENST00000429343,;,regulatory_region_variant,,ENSR00000130480,; C ENSG00000171450 ENST00000302625 Transcript start_lost 167/2508 1/1104 1/367 M/L Atg/Ctg 1 1 CDK5R2 HGNC HGNC:1776 protein_coding YES CCDS2427.1 ENSP00000304250 Q13319 UPI000012738F NM_003936.4 deleterious(0) benign(0.179) 1/1 PIRSF_domain:PIRSF009324,hmmpanther:PTHR23401,hmmpanther:PTHR23401:SF3,mobidb-lite HIGH SNV PASS GAT . . 218959821 WDFY1 . GRCh38 chr2 223945182 223945182 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.103A>C p.Lys35Gln p.K35Q ENST00000233055 1/12 106 90 13 35 34 0 WDFY1,missense_variant,p.Lys35Gln,ENST00000233055,NM_020830.4;WDFY1,missense_variant,p.Lys35Gln,ENST00000429915,;WDFY1,non_coding_transcript_exon_variant,,ENST00000483061,;,regulatory_region_variant,,ENSR00000131015,; G ENSG00000085449 ENST00000233055 Transcript missense_variant 206/4660 103/1233 35/410 K/Q Aag/Cag 1 -1 WDFY1 HGNC HGNC:20451 protein_coding YES CCDS33387.1 ENSP00000233055 Q8IWB7 A0A024R488 UPI0000049887 NM_020830.4 tolerated(0.29) benign(0.245) 1/12 Gene3D:2.80.10.50,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF6,SMART_domains:SM00320,Superfamily_domains:SSF50978 MODERATE 1 SNV 1 PASS TTG . . 223945182 SCYGR2 . GRCh38 chr2 227598894 227598894 + Translation_Start_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2T>G p.Met1? p.M1? ENST00000641394 1/1 110 89 8 49 49 0 SCYGR2,start_lost,p.Met1?,ENST00000641394,; G ENSG00000284643 ENST00000641394 Transcript start_lost 2/363 2/363 1/120 M/R aTg/aGg 1 1 SCYGR2 HGNC HGNC:34220 protein_coding YES ENSP00000493300 A0A286YFB4 UPI000BAD59B2 unknown(0) 1/1 HIGH 1 SNV PASS ATG . . 227598894 NCL . GRCh38 chr2 231464334 231464334 + Splice_Site SNP A A G novel 7316-2156 BS_H9813KRS A A c.18+2T>C p.X6_splice ENST00000322723 116 106 6 34 34 0 NCL,splice_donor_variant,,ENST00000322723,NM_005381.2;NCL,upstream_gene_variant,,ENST00000417652,;NCL,upstream_gene_variant,,ENST00000436894,;NCL,upstream_gene_variant,,ENST00000453992,;NCL,upstream_gene_variant,,ENST00000454824,;SNORD82,upstream_gene_variant,,ENST00000365530,;NCL,splice_donor_variant,,ENST00000484328,;NCL,intron_variant,,ENST00000461347,;NCL,upstream_gene_variant,,ENST00000494618,;,regulatory_region_variant,,ENSR00000131827,; G ENSG00000115053 ENST00000322723 Transcript splice_donor_variant 1 -1 NCL HGNC HGNC:7667 protein_coding YES CCDS33397.1 ENSP00000318195 P19338 A0A024R4A0 UPI0000456F25 NM_005381.2 1/13 HIGH 1 SNV 2 PASS TAC . . 231464334 COL6A3 . GRCh38 chr2 237336134 237336134 + Splice_Site SNP C C A rs995147980 7316-2156 BS_H9813KRS C C c.8965+1G>T p.X2989_splice ENST00000295550 142 107 11 36 36 0 COL6A3,splice_donor_variant,,ENST00000347401,;COL6A3,splice_donor_variant,,ENST00000295550,NM_004369.3;COL6A3,splice_donor_variant,,ENST00000353578,NM_057167.3;COL6A3,splice_donor_variant,,ENST00000409809,;COL6A3,splice_donor_variant,,ENST00000472056,NM_057166.4;COL6A3,upstream_gene_variant,,ENST00000493608,;COL6A3,splice_donor_variant,,ENST00000491769,;COL6A3,downstream_gene_variant,,ENST00000468792,; A ENSG00000163359 ENST00000295550 Transcript splice_donor_variant rs995147980 1 -1 COL6A3 HGNC HGNC:2213 protein_coding YES CCDS33412.1 ENSP00000295550 P12111 D9ZGF2 UPI0000456F39 NM_004369.3 40/43 likely_pathogenic HIGH 1 SNV 1 1 PASS ACC . . 237336134 COL6A3 . GRCh38 chr2 237336278 237336278 + Missense_Mutation SNP G G A rs11903206 7316-2156 BS_H9813KRS G G c.8822C>T p.Ala2941Val p.A2941V ENST00000295550 40/44 166 148 10 32 32 0 COL6A3,missense_variant,p.Ala2941Val,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Ala2735Val,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Ala2735Val,ENST00000409809,;COL6A3,missense_variant,p.Ala2334Val,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Ala2333Val,ENST00000347401,;COL6A3,upstream_gene_variant,,ENST00000493608,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,downstream_gene_variant,,ENST00000468792,; A ENSG00000163359 ENST00000295550 Transcript missense_variant 9275/10749 8822/9534 2941/3177 A/V gCa/gTa rs11903206,CM050237 1 -1 COL6A3 HGNC HGNC:2213 protein_coding YES CCDS33412.1 ENSP00000295550 P12111 D9ZGF2 UPI0000456F39 NM_004369.3 tolerated(0.23) benign(0.001) 40/44 hmmpanther:PTHR44105,hmmpanther:PTHR44105:SF2,Low_complexity_(Seg):seg 0.0162 0.0605 0.0014 0.04182 0.0006977 benign,likely_benign 25741868,23757202 MODERATE 1 SNV 1 1,1 1 PASS TGC . . 0.003819 0.04642 0.00396 0.0001799 0.000591 0.004376 0.0001299 237336278 COL6A3 . GRCh38 chr2 237351194 237351194 + Splice_Site SNP T T C novel 7316-2156 BS_H9813KRS T T c.6754-2A>G p.X2252_splice ENST00000295550 117 109 6 50 49 0 COL6A3,splice_acceptor_variant,,ENST00000347401,;COL6A3,splice_acceptor_variant,,ENST00000295550,NM_004369.3;COL6A3,splice_acceptor_variant,,ENST00000353578,NM_057167.3;COL6A3,splice_acceptor_variant,,ENST00000409809,;COL6A3,splice_acceptor_variant,,ENST00000472056,NM_057166.4;COL6A3,splice_acceptor_variant,,ENST00000491769,; C ENSG00000163359 ENST00000295550 Transcript splice_acceptor_variant 1 -1 COL6A3 HGNC HGNC:2213 protein_coding YES CCDS33412.1 ENSP00000295550 P12111 D9ZGF2 UPI0000456F39 NM_004369.3 26/43 HIGH 1 SNV 1 1 PASS CTG . . 237351194 COL6A3 . GRCh38 chr2 237374829 237374829 + Missense_Mutation SNP T T G rs11896521 7316-2156 BS_H9813KRS T T c.3262A>C p.Lys1088Gln p.K1088Q ENST00000295550 8/44 157 132 21 26 26 0 COL6A3,missense_variant,p.Lys1088Gln,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Lys882Gln,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Lys882Gln,ENST00000409809,;COL6A3,missense_variant,p.Lys481Gln,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Lys481Gln,ENST00000347401,;COL6A3,missense_variant,p.Lys882Gln,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Lys681Gln,ENST00000392003,NM_057164.4;COL6A3,downstream_gene_variant,,ENST00000433762,; G ENSG00000163359 ENST00000295550 Transcript missense_variant 3715/10749 3262/9534 1088/3177 K/Q Aag/Cag rs11896521,COSM3682578,COSM3682577 1 -1 COL6A3 HGNC HGNC:2213 protein_coding YES CCDS33412.1 ENSP00000295550 P12111 D9ZGF2 UPI0000456F39 NM_004369.3 tolerated(0.67) benign(0.011) 8/44 Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR44105,hmmpanther:PTHR44105:SF2,SMART_domains:SM00327,Superfamily_domains:SSF53300 0.0749 0.1755 0.0778 0.0446 0.003 0.0419 0.1384 0.001512 benign 0,1,1 25741868,23757202,18414213 MODERATE 1 SNV 1 1,1,1 1 PASS TTG . . 0.03723 0.1502 0.1213 0.0008123 0.04302 0.02882 0.001776 0.02535 0.03457 237374829 SCLY . GRCh38 chr2 238061131 238061131 + Missense_Mutation SNP A A C rs1211969636 7316-2156 BS_H9813KRS A A c.101A>C p.Asn34Thr p.N34T ENST00000254663 1/12 102 91 8 36 36 0 SCLY,missense_variant,p.Asn34Thr,ENST00000254663,NM_016510.5;SCLY,missense_variant,p.Asn26Thr,ENST00000409736,;SCLY,missense_variant,p.Asn14Thr,ENST00000416757,;SCLY,missense_variant,p.Asn27Thr,ENST00000412508,;SCLY,missense_variant,p.Asn34Thr,ENST00000413463,;SCLY,upstream_gene_variant,,ENST00000480859,;SCLY,missense_variant,p.Asn17Thr,ENST00000443532,;SCLY,missense_variant,p.Asn26Thr,ENST00000423324,;SCLY,missense_variant,p.Asn26Thr,ENST00000446202,;SCLY,non_coding_transcript_exon_variant,,ENST00000480357,;SCLY,non_coding_transcript_exon_variant,,ENST00000487197,;SCLY,non_coding_transcript_exon_variant,,ENST00000497256,;UBE2F-SCLY,intron_variant,,ENST00000449191,;UBE2F-SCLY,intron_variant,,ENST00000449891,;SCLY,upstream_gene_variant,,ENST00000482031,;,regulatory_region_variant,,ENSR00000132772,; C ENSG00000132330 ENST00000254663 Transcript missense_variant 243/2562 101/1362 34/453 N/T aAc/aCc rs1211969636 1 1 SCLY HGNC HGNC:18161 protein_coding YES CCDS2524.2 ENSP00000254663 A0A0A0MQU4 UPI0000EE3842 NM_016510.5 tolerated_low_confidence(0.14) benign(0.005) 1/12 mobidb-lite,hmmpanther:PTHR11601,hmmpanther:PTHR11601:SF52,Gene3D:3.40.640.10 MODERATE 1 SNV 1 PASS AAC . . 238061131 HDLBP . GRCh38 chr2 241253433 241253433 + Missense_Mutation SNP T T C rs7578199 7316-2156 BS_H9813KRS T T c.1253A>G p.Asn418Ser p.N418S ENST00000391975 10/28 105 93 8 29 29 0 HDLBP,missense_variant,p.Asn418Ser,ENST00000391975,NM_203346.4,NM_001320967.1,NM_001320966.1;HDLBP,missense_variant,p.Asn385Ser,ENST00000427183,NM_001243900.2;HDLBP,missense_variant,p.Asn418Ser,ENST00000310931,NM_005336.5;HDLBP,missense_variant,p.Asn418Ser,ENST00000391976,NM_001320965.1;HDLBP,missense_variant,p.Asn227Ser,ENST00000373292,;HDLBP,missense_variant,p.Asn296Ser,ENST00000453141,;HDLBP,downstream_gene_variant,,ENST00000422933,;HDLBP,downstream_gene_variant,,ENST00000428482,;HDLBP,downstream_gene_variant,,ENST00000442714,;HDLBP,downstream_gene_variant,,ENST00000452065,;HDLBP,upstream_gene_variant,,ENST00000452931,;HDLBP,intron_variant,,ENST00000477477,;HDLBP,upstream_gene_variant,,ENST00000476807,;HDLBP,non_coding_transcript_exon_variant,,ENST00000467435,;HDLBP,intron_variant,,ENST00000498595,;HDLBP,downstream_gene_variant,,ENST00000470710,;HDLBP,upstream_gene_variant,,ENST00000487169,; C ENSG00000115677 ENST00000391975 Transcript missense_variant 1481/6372 1253/3807 418/1268 N/S aAt/aGt rs7578199,COSM3736254,COSM3736253 1 -1 HDLBP HGNC HGNC:4857 protein_coding YES CCDS2547.1 ENSP00000375836 A0A024R4E5 UPI0000000C28 NM_203346.4,NM_001320967.1,NM_001320966.1 tolerated(0.27) benign(0.001) 10/28 Gene3D:3.30.1370.10,Pfam_domain:PF00013,PROSITE_profiles:PS50084,hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF34,SMART_domains:SM00322,Superfamily_domains:SSF54791,cd02394 0.1378 0.1785 0.1916 0.001 0.2684 0.0511 0.1827 0.2463 0,1,1 17952073,20442750,23770605 MODERATE 1 SNV 1 1,1,1 PASS ATT . . 0.1859 0.1766 0.1318 0.3012 0.001044 0.2037 0.2479 0.227 0.07157 241253433 RPL32 . GRCh38 chr3 12836224 12836224 + Splice_Site SNP C C T rs879106911 7316-2156 BS_H9813KRS C C c.279-1G>A p.X93_splice ENST00000429711 94 81 10 35 34 0 RPL32,splice_acceptor_variant,,ENST00000273223,;RPL32,splice_acceptor_variant,,ENST00000396953,;RPL32,splice_acceptor_variant,,ENST00000396957,NM_001007073.1,NM_001007074.1;RPL32,splice_acceptor_variant,,ENST00000429711,NM_000994.3;RPL32,splice_acceptor_variant,,ENST00000435983,;RPL32,splice_acceptor_variant,,ENST00000457131,;CAND2,intron_variant,,ENST00000454887,;CAND2,downstream_gene_variant,,ENST00000295989,NM_012298.2;RPL32,downstream_gene_variant,,ENST00000434963,;CAND2,downstream_gene_variant,,ENST00000456430,NM_001162499.1;SNORA7A,downstream_gene_variant,,ENST00000384765,;AC034198.2,upstream_gene_variant,,ENST00000606447,;RPL32,downstream_gene_variant,,ENST00000452606,; T ENSG00000144713 ENST00000429711 Transcript splice_acceptor_variant rs879106911 1 -1 RPL32 HGNC HGNC:10336 protein_coding YES CCDS2614.1 ENSP00000416429 P62910 A0A024R2G7 UPI0000001684 NM_000994.3 3/3 HIGH 1 SNV 1 PASS TCT . . 12836224 SLC6A6 . GRCh38 chr3 14402732 14402732 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.139A>C p.Lys47Gln p.K47Q ENST00000613060 1/15 122 107 9 40 38 0 SLC6A6,missense_variant,p.Lys47Gln,ENST00000613060,NM_001134367.3;SLC6A6,5_prime_UTR_variant,,ENST00000622186,NM_003043.5;SLC6A6,5_prime_UTR_variant,,ENST00000621751,NM_001134368.3;SLC6A6,non_coding_transcript_exon_variant,,ENST00000615188,;SLC6A6,non_coding_transcript_exon_variant,,ENST00000622810,;SLC6A6,missense_variant,p.Lys47Gln,ENST00000618278,;SLC6A6,missense_variant,p.Lys47Gln,ENST00000610642,;SLC6A6,missense_variant,p.Lys37Gln,ENST00000622176,;SLC6A6,non_coding_transcript_exon_variant,,ENST00000613930,;,regulatory_region_variant,,ENSR00000148935,; C ENSG00000131389 ENST00000613060 Transcript missense_variant 157/6526 139/2166 47/721 K/Q Aag/Cag 1 1 SLC6A6 HGNC HGNC:11052 protein_coding YES CCDS77704.1 ENSP00000481625 A0A087WY96 UPI0004449BB2 NM_001134367.3 deleterious_low_confidence(0) benign(0) 1/15 MODERATE 1 SNV 1 PASS CAA . . 14402732 MYD88 . GRCh38 chr3 38138662 38138662 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1A>C p.Met1? p.M1? ENST00000417037 1/5 93 85 7 34 34 0 MYD88,start_lost,p.Met1?,ENST00000417037,NM_001172567.1;MYD88,start_lost,p.Met1?,ENST00000396334,NM_002468.4;MYD88,start_lost,p.Met1?,ENST00000424893,NM_001172568.1;MYD88,start_lost,p.Met1?,ENST00000495303,NM_001172566.1;MYD88,start_lost,p.Met1?,ENST00000443433,NM_001172569.1;ACAA1,upstream_gene_variant,,ENST00000301810,NM_001130410.1;ACAA1,upstream_gene_variant,,ENST00000333167,NM_001607.3;ACAA1,upstream_gene_variant,,ENST00000421218,;MYD88,upstream_gene_variant,,ENST00000421516,;ACAA1,upstream_gene_variant,,ENST00000450296,;ACAA1,upstream_gene_variant,,ENST00000625927,;ACAA1,upstream_gene_variant,,ENST00000627515,;MYD88,upstream_gene_variant,,ENST00000463956,;MYD88,upstream_gene_variant,,ENST00000481122,;MYD88,non_coding_transcript_exon_variant,,ENST00000416282,;MYD88,non_coding_transcript_exon_variant,,ENST00000460295,;ACAA1,upstream_gene_variant,,ENST00000411549,;ACAA1,upstream_gene_variant,,ENST00000418880,;ACAA1,upstream_gene_variant,,ENST00000423611,;ACAA1,upstream_gene_variant,,ENST00000440176,;ACAA1,upstream_gene_variant,,ENST00000447223,;ACAA1,upstream_gene_variant,,ENST00000460424,;ACAA1,upstream_gene_variant,,ENST00000465181,;ACAA1,upstream_gene_variant,,ENST00000484284,;MYD88,upstream_gene_variant,,ENST00000484513,;ACAA1,upstream_gene_variant,,ENST00000489559,;,regulatory_region_variant,,ENSR00000150975,; C ENSG00000172936 ENST00000417037 Transcript start_lost 185/2871 1/954 1/317 M/L Atg/Ctg 1 1 MYD88 HGNC HGNC:7562 protein_coding YES CCDS54565.1 ENSP00000401399 A0A0A0MST0 UPI0000E5A580 NM_001172567.1 deleterious_low_confidence(0) benign(0) 1/5 mobidb-lite HIGH 1 SNV 1 1 PASS AAT . . 38138662 KLHL40 . GRCh38 chr3 42686181 42686181 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.563T>G p.Val188Gly p.V188G ENST00000287777 1/6 107 90 7 36 35 0 KLHL40,missense_variant,p.Val188Gly,ENST00000287777,NM_152393.3;,regulatory_region_variant,,ENSR00000151390,; G ENSG00000157119 ENST00000287777 Transcript missense_variant 663/2517 563/1866 188/621 V/G gTg/gGg 1 1 KLHL40 HGNC HGNC:30372 protein_coding YES CCDS2703.1 ENSP00000287777 Q2TBA0 UPI000000D866 NM_152393.3 deleterious(0) probably_damaging(0.954) 1/6 Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF22,SMART_domains:SM00875 MODERATE 1 SNV 1 1 PASS GTG . . 42686181 COL7A1 . GRCh38 chr3 48583951 48583951 + Splice_Region SNP A A G rs1279957760 7316-2156 BS_H9813KRS A A c.4227T>C p.Gly1409= p.G1409= ENST00000328333 38/118 107 96 5 39 39 0 COL7A1,splice_region_variant,p.Gly1409=,ENST00000328333,NM_000094.3;MIR711,upstream_gene_variant,,ENST00000390201,;COL7A1,splice_region_variant,,ENST00000487017,; G ENSG00000114270 ENST00000328333 Transcript splice_region_variant,synonymous_variant 4335/9276 4227/8835 1409/2944 G ggT/ggC rs1279957760 1 -1 COL7A1 HGNC HGNC:2214 protein_coding YES CCDS2773.1 ENSP00000332371 Q02388 UPI0000126D20 NM_000094.3 38/118 hmmpanther:PTHR24020,hmmpanther:PTHR24020:SF4,mobidb-lite,Low_complexity_(Seg):seg LOW 1 SNV 1 1 PASS GAC . . 48583951 CELSR3 . GRCh38 chr3 48662556 48662556 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.79T>G p.Phe27Val p.F27V ENST00000164024 1/35 100 86 9 28 27 0 CELSR3,missense_variant,p.Phe27Val,ENST00000164024,NM_001407.2;LINC02585,upstream_gene_variant,,ENST00000421275,; C ENSG00000008300 ENST00000164024 Transcript missense_variant 360/11956 79/9939 27/3312 F/V Ttc/Gtc 1 -1 CELSR3 HGNC HGNC:3230 protein_coding YES CCDS2775.1 ENSP00000164024 Q9NYQ7 UPI00001AE5A6 NM_001407.2 deleterious_low_confidence(0.02) benign(0.057) 1/35 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 PASS AAC . . 48662556 SEMA3F . GRCh38 chr3 50174087 50174087 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.309A>C p.Glu103Asp p.E103D ENST00000002829 4/19 93 80 11 28 28 0 SEMA3F,missense_variant,p.Glu103Asp,ENST00000002829,NM_004186.4;SEMA3F,missense_variant,p.Glu103Asp,ENST00000434342,NM_001318800.1;SEMA3F,missense_variant,p.Glu35Asp,ENST00000413852,NM_001318798.1;SEMA3F,missense_variant,p.Glu103Asp,ENST00000450338,;SEMA3F,missense_variant,p.Glu103Asp,ENST00000414301,;SEMA3F,missense_variant,p.Glu61Asp,ENST00000420831,;SEMA3F,downstream_gene_variant,,ENST00000426511,;MIR566,downstream_gene_variant,,ENST00000385187,; C ENSG00000001617 ENST00000002829 Transcript missense_variant 793/3802 309/2358 103/785 E/D gaA/gaC 1 1 SEMA3F HGNC HGNC:10728 protein_coding YES CCDS2811.1 ENSP00000002829 Q13275 UPI0000135A69 NM_004186.4 deleterious(0.03) probably_damaging(0.999) 4/19 Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF27,SMART_domains:SM00630,Superfamily_domains:SSF101912,cd11254 MODERATE 1 SNV 1 PASS AAT . . 50174087 SEMA3B . GRCh38 chr3 50270456 50270456 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.291A>C p.Glu97Asp p.E97D ENST00000611067 3/17 137 119 13 31 31 0 SEMA3B,missense_variant,p.Glu97Asp,ENST00000616701,NM_001290060.1;SEMA3B,missense_variant,p.Glu97Asp,ENST00000618865,NM_004636.3;SEMA3B,missense_variant,p.Glu97Asp,ENST00000433753,NM_001005914.2;SEMA3B,missense_variant,p.Glu97Asp,ENST00000611067,NM_001290061.1;SEMA3B,missense_variant,p.Glu97Asp,ENST00000621029,;SEMA3B,upstream_gene_variant,,ENST00000418576,;SEMA3B,upstream_gene_variant,,ENST00000456560,NM_001290062.1,NM_001290063.1;MIR6872,upstream_gene_variant,,ENST00000612981,;SEMA3B-AS1,upstream_gene_variant,,ENST00000421735,;SEMA3B,upstream_gene_variant,,ENST00000456210,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000619119,;SEMA3B,intron_variant,,ENST00000612509,;SEMA3B,upstream_gene_variant,,ENST00000416295,;SEMA3B,upstream_gene_variant,,ENST00000419007,;SEMA3B,upstream_gene_variant,,ENST00000434030,;SEMA3B,upstream_gene_variant,,ENST00000439487,;SEMA3B,upstream_gene_variant,,ENST00000441915,;,regulatory_region_variant,,ENSR00000152334,; C ENSG00000012171 ENST00000611067 Transcript missense_variant 318/2292 291/2265 97/754 E/D gaA/gaC 1 1 SEMA3B HGNC HGNC:10724 protein_coding YES CCDS77743.1 ENSP00000480680 A0A0C4DGV8 UPI000007272A NM_001290061.1 tolerated(0.43) benign(0.071) 3/17 Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF37,SMART_domains:SM00630,Superfamily_domains:SSF101912 MODERATE 1 SNV 1 PASS AAT . . 50270456 FLNB . GRCh38 chr3 58123435 58123435 + Missense_Mutation SNP G G A rs1131356 7316-2156 BS_H9813KRS G G c.3469G>A p.Asp1157Asn p.D1157N ENST00000490882 21/47 105 98 5 25 25 0 FLNB,missense_variant,p.Asp1157Asn,ENST00000295956,NM_001457.3;FLNB,missense_variant,p.Asp1157Asn,ENST00000429972,NM_001164318.1;FLNB,missense_variant,p.Asp1157Asn,ENST00000358537,NM_001164319.1;FLNB,missense_variant,p.Asp1157Asn,ENST00000490882,NM_001164317.1;FLNB,missense_variant,p.Asp988Asn,ENST00000493452,; A ENSG00000136068 ENST00000490882 Transcript missense_variant 3634/8079 3469/7902 1157/2633 D/N Gac/Aac rs1131356,COSM4158258,COSM4158257,COSM4158256 1 1 FLNB HGNC HGNC:3755 protein_coding YES CCDS54599.1 ENSP00000420213 O75369 UPI0001765F91 NM_001164317.1 deleterious(0.03) probably_damaging(0.918) 21/47 Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR43998,hmmpanther:PTHR43998:SF3,SMART_domains:SM00557,Superfamily_domains:SSF81296 0.5461 0.4758 0.4726 0.9187 0.2803 0.5828 0.4115 0.2438 benign,likely_benign 0,1,1,1 25741868,25519409,19727905,25519380,19054571 MODERATE 1 SNV 1 1,1,1,1 1 PASS CGA . . 0.3749 0.4195 0.5392 0.2397 0.9146 0.2577 0.2463 0.3223 0.473 58123435 ADCY5 . GRCh38 chr3 123447525 123447525 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.1021A>C p.Thr341Pro p.T341P ENST00000462833 1/21 133 121 5 45 44 0 ADCY5,missense_variant,p.Thr341Pro,ENST00000462833,NM_183357.2; G ENSG00000173175 ENST00000462833 Transcript missense_variant 2234/7311 1021/3786 341/1261 T/P Acg/Ccg 1 -1 ADCY5 HGNC HGNC:236 protein_coding YES CCDS3022.1 ENSP00000419361 O95622 UPI000015E262 NM_183357.2 deleterious(0) probably_damaging(0.947) 1/21 Pfam_domain:PF16214,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF332,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS GTG . . 123447525 RUVBL1 . GRCh38 chr3 128123594 128123594 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.131A>C p.Asn44Thr p.N44T ENST00000322623 1/11 124 104 13 33 32 1 RUVBL1,missense_variant,p.Asn44Thr,ENST00000322623,NM_003707.2,NM_001319084.1;RUVBL1,intron_variant,,ENST00000464873,NM_001319086.1;,regulatory_region_variant,,ENSR00000158057,; G ENSG00000175792 ENST00000322623 Transcript missense_variant 231/1761 131/1371 44/456 N/T aAc/aCc 1 -1 RUVBL1 HGNC HGNC:10474 protein_coding YES CCDS3047.1 ENSP00000318297 Q9Y265 UPI0000044739 NM_003707.2,NM_001319084.1 tolerated(0.35) benign(0) 1/11 cd00009,hmmpanther:PTHR11093:SF6,hmmpanther:PTHR11093,Pfam_domain:PF06068,Gene3D:3.40.50.300,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS GTT . . 128123594 TF . GRCh38 chr3 133775510 133775510 + Missense_Mutation SNP C C T rs1049296 7316-2156 BS_H9813KRS C C c.1765C>T p.Pro589Ser p.P589S ENST00000402696 15/17 164 150 12 39 39 0 TF,missense_variant,p.Pro589Ser,ENST00000402696,NM_001063.3;TF,3_prime_UTR_variant,,ENST00000461695,;TF,non_coding_transcript_exon_variant,,ENST00000467842,;TF,downstream_gene_variant,,ENST00000462495,; T ENSG00000091513 ENST00000402696 Transcript missense_variant 2250/20602 1765/2097 589/698 P/S Cct/Tct rs1049296,CM033984,COSM3759771 1 1 TF HGNC HGNC:11740 protein_coding YES CCDS3080.1 ENSP00000385834 P02787 UPI000013D5A6 NM_001063.3 tolerated(0.13) benign(0.018) 15/17 PDB-ENSP_mappings:2hau.A,PDB-ENSP_mappings:2hau.B,PDB-ENSP_mappings:2hav.A,PDB-ENSP_mappings:2hav.B,PDB-ENSP_mappings:3qyt.A,PDB-ENSP_mappings:3s9l.C,PDB-ENSP_mappings:3s9l.D,PDB-ENSP_mappings:3s9m.C,PDB-ENSP_mappings:3s9m.D,PDB-ENSP_mappings:3s9n.C,PDB-ENSP_mappings:3s9n.D,PDB-ENSP_mappings:3skp.A,PDB-ENSP_mappings:3v83.A,PDB-ENSP_mappings:3v83.B,PDB-ENSP_mappings:3v83.C,PDB-ENSP_mappings:3v83.D,PDB-ENSP_mappings:3v83.E,PDB-ENSP_mappings:3v83.F,PDB-ENSP_mappings:3v89.B,PDB-ENSP_mappings:3v8x.B,PDB-ENSP_mappings:3ve1.B,PDB-ENSP_mappings:3ve1.D,PDB-ENSP_mappings:4h0w.A,PDB-ENSP_mappings:4x1b.A,PDB-ENSP_mappings:4x1d.A,PDB-ENSP_mappings:4x1d.B,PDB-ENSP_mappings:5dyh.A,PDB-ENSP_mappings:5dyh.B,PDB-ENSP_mappings:5h52.A,PDB-ENSP_mappings:5wtd.A,cd13617,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,SMART_domains:SM00094,Superfamily_domains:SSF53850,PROSITE_profiles:PS51408,hmmpanther:PTHR11485:SF31,hmmpanther:PTHR11485,PROSITE_patterns:PS00207 0.1564 0.0605 0.121 0.256 0.1382 0.227 0.07694 0.1579 benign,risk_factor,association 0,0,1 18779388,17601350,27437086,23386860,18813964,18830724,21537449,23573206,23820649,21665994,25887915,20534741,20574532,25649863,19084216,17357082,19673882,23996192,24391736,25144566,24121126,9272172,14757931,15060098,18795173,19165391,19879291,20029940,20659343,22074419,23732512,23935582,23968943,25071582,25287020,27255824,21912686,21479240,19501718,29201641 MODERATE 1 SNV 1 1,1,1 1 PASS ACC . . 0.1601 0.07109 0.1198 0.2122 0.2593 0.1066 0.1606 0.1663 0.2122 133775510 SIAH2 . GRCh38 chr3 150762737 150762737 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.113T>G p.Ile38Ser p.I38S ENST00000312960 1/2 55 46 6 31 30 0 SIAH2,missense_variant,p.Ile38Ser,ENST00000312960,NM_005067.5;SIAH2,intron_variant,,ENST00000482706,;SIAH2-AS1,downstream_gene_variant,,ENST00000461943,;SIAH2,intron_variant,,ENST00000472885,;,regulatory_region_variant,,ENSR00000306890,; C ENSG00000181788 ENST00000312960 Transcript missense_variant 641/2517 113/975 38/324 I/S aTc/aGc 1 -1 SIAH2 HGNC HGNC:10858 protein_coding YES CCDS3152.1 ENSP00000322457 O43255 UPI0000071280 NM_005067.5 tolerated(0.86) benign(0) 1/2 hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF11,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAT . . 150762737 GMPS . GRCh38 chr3 155916172 155916172 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1192A>C p.Ile398Leu p.I398L ENST00000496455 9/16 97 88 9 43 43 0 GMPS,missense_variant,p.Ile398Leu,ENST00000496455,NM_003875.2;GMPS,missense_variant,p.Ile299Leu,ENST00000295920,; C ENSG00000163655 ENST00000496455 Transcript missense_variant 1527/8751 1192/2082 398/693 I/L Atc/Ctc 1 1 GMPS HGNC HGNC:4378 protein_coding YES CCDS46941.1 ENSP00000419851 P49915 A0A140VJK6 UPI0000000CC6 NM_003875.2 deleterious(0.03) benign(0.062) 9/16 Gene3D:3.40.50.620,PROSITE_profiles:PS51553,hmmpanther:PTHR11922,hmmpanther:PTHR11922:SF2,Superfamily_domains:SSF52402,cd01997 MODERATE 1 SNV 1 1 PASS CAT . . 155916172 SHOX2 . GRCh38 chr3 158105876 158105876 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.149A>C p.Asp50Ala p.D50A ENST00000389589 1/6 87 76 9 28 28 0 SHOX2,missense_variant,p.Asp50Ala,ENST00000441443,NM_006884.3;SHOX2,missense_variant,p.Asp50Ala,ENST00000389589,NM_003030.4;SHOX2,missense_variant,p.Asp50Ala,ENST00000483851,NM_001163678.1;RSRC1,5_prime_UTR_variant,,ENST00000480820,;RSRC1,upstream_gene_variant,,ENST00000295930,NM_016625.3;RSRC1,upstream_gene_variant,,ENST00000312179,NM_001271834.1;SHOX2,upstream_gene_variant,,ENST00000425436,;RSRC1,upstream_gene_variant,,ENST00000464171,;RSRC1,upstream_gene_variant,,ENST00000471994,;RSRC1,upstream_gene_variant,,ENST00000475278,;RSRC1,upstream_gene_variant,,ENST00000476899,;RSRC1,upstream_gene_variant,,ENST00000494002,;SHOX2,upstream_gene_variant,,ENST00000554685,;RSRC1,upstream_gene_variant,,ENST00000611884,NM_001271838.1;RSRC1,upstream_gene_variant,,ENST00000468344,;RSRC1,upstream_gene_variant,,ENST00000471911,;RSRC1,upstream_gene_variant,,ENST00000480119,;SHOX2,upstream_gene_variant,,ENST00000490689,;,regulatory_region_variant,,ENSR00000160989,; G ENSG00000168779 ENST00000389589 Transcript missense_variant 285/2072 149/1068 50/355 D/A gAc/gCc 1 -1 SHOX2 HGNC HGNC:10854 protein_coding YES CCDS33884.2 ENSP00000374240 O60902 UPI0000169EC9 NM_003030.4 deleterious_low_confidence(0.01) benign(0.019) 1/6 hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF290,mobidb-lite MODERATE 1 SNV 1 PASS GTC . . 158105876 MAP6D1 . GRCh38 chr3 183825316 183825316 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.232A>C p.Thr78Pro p.T78P ENST00000318631 1/3 96 79 7 33 33 0 MAP6D1,missense_variant,p.Thr78Pro,ENST00000318631,NM_024871.2;MAP6D1,missense_variant,p.Thr78Pro,ENST00000431348,;AC131160.1,intron_variant,,ENST00000639401,;PARL,downstream_gene_variant,,ENST00000311101,NM_001037639.2;PARL,downstream_gene_variant,,ENST00000317096,NM_001324438.1,NM_001324436.1,NM_018622.6;PARL,downstream_gene_variant,,ENST00000417784,;PARL,downstream_gene_variant,,ENST00000418450,;PARL,downstream_gene_variant,,ENST00000435888,NM_001324437.1;PARL,downstream_gene_variant,,ENST00000450375,;PARL,downstream_gene_variant,,ENST00000639100,;MAP6D1,upstream_gene_variant,,ENST00000463801,;MAP6D1,missense_variant,p.Thr70Pro,ENST00000445426,;PARL,downstream_gene_variant,,ENST00000421484,;PARL,downstream_gene_variant,,ENST00000638817,;PARL,downstream_gene_variant,,ENST00000639900,;,regulatory_region_variant,,ENSR00000162852,; G ENSG00000180834 ENST00000318631 Transcript missense_variant 263/2111 232/600 78/199 T/P Acg/Ccg 1 -1 MAP6D1 HGNC HGNC:25753 protein_coding YES CCDS3247.1 ENSP00000314560 Q9H9H5 UPI000007273D NM_024871.2 tolerated(0.11) benign(0) 1/3 mobidb-lite,hmmpanther:PTHR14759,hmmpanther:PTHR14759:SF9 MODERATE 1 SNV 1 PASS GTG . . 183825316 DVL3 . GRCh38 chr3 184170223 184170223 + Splice_Site SNP T T G rs1038626309 7316-2156 BS_H9813KRS T T c.1714+2T>G p.X572_splice ENST00000313143 103 90 5 30 30 0 DVL3,splice_donor_variant,,ENST00000313143,NM_004423.3;DVL3,splice_donor_variant,,ENST00000431765,;AP2M1,upstream_gene_variant,,ENST00000292807,NM_004068.3;AP2M1,upstream_gene_variant,,ENST00000382456,NM_001025205.1;AP2M1,upstream_gene_variant,,ENST00000411763,NM_001311198.1;DVL3,downstream_gene_variant,,ENST00000423300,;AP2M1,upstream_gene_variant,,ENST00000427072,;AP2M1,upstream_gene_variant,,ENST00000448139,;AP2M1,upstream_gene_variant,,ENST00000455925,;AP2M1,upstream_gene_variant,,ENST00000460862,;DVL3,splice_donor_variant,,ENST00000478247,;AP2M1,upstream_gene_variant,,ENST00000466598,;DVL3,downstream_gene_variant,,ENST00000467873,;DVL3,downstream_gene_variant,,ENST00000478639,;AP2M1,upstream_gene_variant,,ENST00000484469,;AP2M1,upstream_gene_variant,,ENST00000487958,; G ENSG00000161202 ENST00000313143 Transcript splice_donor_variant rs1038626309 1 1 DVL3 HGNC HGNC:3087 protein_coding YES CCDS3253.1 ENSP00000316054 Q92997 UPI00001299A9 NM_004423.3 14/14 HIGH 1 SNV 1 1 PASS GTA . . 184170223 VWA5B2 . GRCh38 chr3 184230643 184230643 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.115A>C p.Asn39His p.N39H ENST00000426955 1/19 108 95 9 28 28 0 VWA5B2,missense_variant,p.Asn39His,ENST00000426955,NM_138345.2;VWA5B2,upstream_gene_variant,,ENST00000273794,NM_001320373.1;VWA5B2,upstream_gene_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000474580,;VWA5B2,upstream_gene_variant,,ENST00000497229,;,regulatory_region_variant,,ENSR00000162897,; C ENSG00000145198 ENST00000426955 Transcript missense_variant 215/4120 115/3729 39/1242 N/H Aac/Cac 1 1 VWA5B2 HGNC HGNC:25144 protein_coding YES CCDS54686.1 ENSP00000398688 Q8N398 UPI0000412DE9 NM_138345.2 deleterious(0) probably_damaging(0.999) 1/19 Pfam_domain:PF13757,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107 MODERATE 1 SNV 1 PASS CAA . . 184230643 VWA5B2 . GRCh38 chr3 184230644 184230644 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.116A>C p.Asn39Thr p.N39T ENST00000426955 1/19 109 94 11 27 27 0 VWA5B2,missense_variant,p.Asn39Thr,ENST00000426955,NM_138345.2;VWA5B2,upstream_gene_variant,,ENST00000273794,NM_001320373.1;VWA5B2,upstream_gene_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000474580,;VWA5B2,upstream_gene_variant,,ENST00000497229,;,regulatory_region_variant,,ENSR00000162897,; C ENSG00000145198 ENST00000426955 Transcript missense_variant 216/4120 116/3729 39/1242 N/T aAc/aCc 1 1 VWA5B2 HGNC HGNC:25144 protein_coding YES CCDS54686.1 ENSP00000398688 Q8N398 UPI0000412DE9 NM_138345.2 deleterious(0) probably_damaging(0.998) 1/19 Pfam_domain:PF13757,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107 MODERATE 1 SNV 1 PASS AAC . . 184230644 MUC4 . GRCh38 chr3 195762853 195762853 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.14344+2T>G p.X4782_splice ENST00000463781 114 100 9 39 39 0 MUC4,splice_donor_variant,,ENST00000346145,NM_004532.5;MUC4,splice_donor_variant,,ENST00000349607,NM_138297.4;MUC4,splice_donor_variant,,ENST00000463781,NM_018406.6;MUC4,splice_donor_variant,,ENST00000475231,;MUC4,downstream_gene_variant,,ENST00000486425,;MUC4,splice_donor_variant,,ENST00000308466,;MUC4,splice_donor_variant,,ENST00000339251,;MUC4,splice_donor_variant,,ENST00000392407,;MUC4,splice_donor_variant,,ENST00000415455,;MUC4,splice_donor_variant,,ENST00000448861,;MUC4,splice_donor_variant,,ENST00000462323,;MUC4,splice_donor_variant,,ENST00000466475,;MUC4,splice_donor_variant,,ENST00000470451,;MUC4,splice_donor_variant,,ENST00000477086,;MUC4,splice_donor_variant,,ENST00000477756,;MUC4,splice_donor_variant,,ENST00000478156,;MUC4,splice_donor_variant,,ENST00000479406,;MUC4,splice_donor_variant,,ENST00000480843,;,regulatory_region_variant,,ENSR00000164309,; C ENSG00000145113 ENST00000463781 Transcript splice_donor_variant 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 13/24 HIGH 1 SNV 5 1 PASS TAC . . 195762853 MUC4 . GRCh38 chr3 195782722 195782722 + Missense_Mutation SNP G G A rs868504550 7316-2156 BS_H9813KRS G G c.8858C>T p.Ala2953Val p.A2953V ENST00000463781 2/25 37 26 6 24 22 0 MUC4,missense_variant,p.Ala2953Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala2953Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala2953Val,ENST00000478156,;MUC4,missense_variant,p.Ala2953Val,ENST00000466475,;MUC4,missense_variant,p.Ala2953Val,ENST00000477756,;MUC4,missense_variant,p.Ala2953Val,ENST00000477086,;MUC4,missense_variant,p.Ala2953Val,ENST00000480843,;MUC4,missense_variant,p.Ala2953Val,ENST00000462323,;MUC4,missense_variant,p.Ala2953Val,ENST00000470451,;MUC4,missense_variant,p.Ala2953Val,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 9318/17110 8858/16239 2953/5412 A/V gCa/gTa rs868504550,COSM4597966 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(1) possibly_damaging(0.494) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TGC . . 0.0001303 0.002572 8.642e-05 0.0001327 195782722 MUC4 . GRCh38 chr3 195785266 195785266 + Missense_Mutation SNP A A G rs766863695 7316-2156 BS_H9813KRS A A c.6314T>C p.Val2105Ala p.V2105A ENST00000463781 2/25 59 46 6 24 22 0 MUC4,missense_variant,p.Val2105Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Val2105Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Val2105Ala,ENST00000478156,;MUC4,missense_variant,p.Val2105Ala,ENST00000466475,;MUC4,missense_variant,p.Val2105Ala,ENST00000477756,;MUC4,missense_variant,p.Val2105Ala,ENST00000477086,;MUC4,missense_variant,p.Val2105Ala,ENST00000480843,;MUC4,missense_variant,p.Val2105Ala,ENST00000462323,;MUC4,missense_variant,p.Val2105Ala,ENST00000470451,;MUC4,missense_variant,p.Val2105Ala,ENST00000479406,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 6774/17110 6314/16239 2105/5412 V/A gTa/gCa rs766863695 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.19) benign(0.159) 2/25 hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS TAC . . 7.568e-05 0.0003698 4.744e-05 0.0002453 0.0002182 195785266 MUC4 . GRCh38 chr3 195785696 195785696 + Missense_Mutation SNP G G C 7316-2156 BS_H9813KRS G G c.5884C>G p.Pro1962Ala p.P1962A ENST00000463781 2/25 46 29 5 34 26 0 MUC4,missense_variant,p.Pro1962Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro1962Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro1962Ala,ENST00000478156,;MUC4,missense_variant,p.Pro1962Ala,ENST00000466475,;MUC4,missense_variant,p.Pro1962Ala,ENST00000477756,;MUC4,missense_variant,p.Pro1962Ala,ENST00000477086,;MUC4,missense_variant,p.Pro1962Ala,ENST00000480843,;MUC4,missense_variant,p.Pro1962Ala,ENST00000462323,;MUC4,missense_variant,p.Pro1962Ala,ENST00000470451,;MUC4,missense_variant,p.Pro1962Ala,ENST00000479406,;,regulatory_region_variant,,ENSR00000308218,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 6344/17110 5884/16239 1962/5412 P/A Ccc/Gcc COSM1042913 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.14) benign(0.164) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS GGT . . 195785696 TNK2 . GRCh38 chr3 195867362 195867362 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.3125T>G p.Met1042Arg p.M1042R ENST00000381916 13/15 116 103 10 30 27 0 TNK2,missense_variant,p.Met964Arg,ENST00000333602,NM_005781.4;TNK2,missense_variant,p.Met996Arg,ENST00000428187,NM_001308046.1;TNK2,missense_variant,p.Met1042Arg,ENST00000381916,NM_001010938.1;TNK2,missense_variant,p.Met531Arg,ENST00000416152,;TNK2,downstream_gene_variant,,ENST00000411741,;TNK2,downstream_gene_variant,,ENST00000424563,;TNK2,downstream_gene_variant,,ENST00000478623,;TNK2,downstream_gene_variant,,ENST00000486523,;TNK2,downstream_gene_variant,,ENST00000495247,;TNK2,splice_region_variant,,ENST00000420716,;TNK2,downstream_gene_variant,,ENST00000439230,;TNK2,downstream_gene_variant,,ENST00000464041,;TNK2,downstream_gene_variant,,ENST00000468680,;TNK2,downstream_gene_variant,,ENST00000478715,;TNK2,downstream_gene_variant,,ENST00000481865,;TNK2,downstream_gene_variant,,ENST00000489628,; C ENSG00000061938 ENST00000381916 Transcript missense_variant,splice_region_variant 3270/4223 3125/3261 1042/1086 M/R aTg/aGg 1 -1 TNK2 HGNC HGNC:19297 protein_coding YES CCDS33927.1 ENSP00000371341 Q07912 UPI00004C9B08 NM_001010938.1 deleterious_low_confidence(0.03) benign(0.271) 13/15 Gene3D:1.10.8.10,hmmpanther:PTHR14254,hmmpanther:PTHR14254:SF4,cd14328 MODERATE 1 SNV 2 1 PASS CAT . . 195867362 TNK2 . GRCh38 chr3 195884906 195884906 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.551T>G p.Ile184Ser p.I184S ENST00000381916 4/15 109 93 13 20 19 1 TNK2,missense_variant,p.Ile121Ser,ENST00000333602,NM_005781.4;TNK2,missense_variant,p.Ile153Ser,ENST00000428187,NM_001308046.1;TNK2,missense_variant,p.Ile184Ser,ENST00000381916,NM_001010938.1;TNK2,intron_variant,,ENST00000438207,;TNK2,downstream_gene_variant,,ENST00000427576,;TNK2,downstream_gene_variant,,ENST00000433111,;MIR6829,upstream_gene_variant,,ENST00000620375,;TNK2,non_coding_transcript_exon_variant,,ENST00000468819,;TNK2,intron_variant,,ENST00000486523,;TNK2,missense_variant,p.Ile121Ser,ENST00000439230,;TNK2,missense_variant,p.Ile43Ser,ENST00000430929,;TNK2,3_prime_UTR_variant,,ENST00000447060,;TNK2,non_coding_transcript_exon_variant,,ENST00000481865,;TNK2,non_coding_transcript_exon_variant,,ENST00000464041,; C ENSG00000061938 ENST00000381916 Transcript missense_variant 696/4223 551/3261 184/1086 I/S aTt/aGt 1 -1 TNK2 HGNC HGNC:19297 protein_coding YES CCDS33927.1 ENSP00000371341 Q07912 UPI00004C9B08 NM_001010938.1 deleterious(0) probably_damaging(0.914) 4/15 Gene3D:3.30.200.20,Superfamily_domains:SSF56112 MODERATE 1 SNV 2 1 PASS AAT . . 195884906 RUBCN . GRCh38 chr3 197736698 197736698 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.22A>C p.Met8Leu p.M8L ENST00000296343 1/20 102 82 16 37 37 0 RUBCN,missense_variant,p.Met8Leu,ENST00000296343,NM_014687.2;RUBCN,missense_variant,p.Met8Leu,ENST00000449205,;RUBCN,5_prime_UTR_variant,,ENST00000474214,;RUBCN,intron_variant,,ENST00000273582,NM_001145642.3;FYTTD1,upstream_gene_variant,,ENST00000428738,;RUBCN,intron_variant,,ENST00000467303,;,regulatory_region_variant,,ENSR00000164602,; G ENSG00000145016 ENST00000296343 Transcript missense_variant 22/2919 22/2919 8/972 M/L Atg/Ctg 1 -1 RUBCN HGNC HGNC:28991 protein_coding YES CCDS43195.1 ENSP00000296343 Q92622 UPI00001C1DE4 NM_014687.2 tolerated_low_confidence(0.14) benign(0.003) 1/20 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS ATT . . 197736698 ZNF721 . GRCh38 chr4 442385 442385 + Missense_Mutation SNP T T A 7316-2156 BS_H9813KRS T T c.2082A>T p.Glu694Asp p.E694D ENST00000511833 3/3 114 90 10 43 41 0 ZNF721,missense_variant,p.Glu682Asp,ENST00000338977,;ZNF721,missense_variant,p.Glu694Asp,ENST00000511833,NM_133474.3;ZNF721,intron_variant,,ENST00000506646,;ZNF721,downstream_gene_variant,,ENST00000505900,;AC092574.2,intron_variant,,ENST00000631198,;ABCA11P,intron_variant,,ENST00000451020,;ZNF721,intron_variant,,ENST00000507078,;ABCA11P,intron_variant,,ENST00000507854,;ABCA11P,intron_variant,,ENST00000514396,;ZNF721,intron_variant,,ENST00000515578,; A ENSG00000182903 ENST00000511833 Transcript missense_variant 2276/2966 2082/2772 694/923 E/D gaA/gaT COSM1294141,COSM1294140 1 -1 ZNF721 HGNC HGNC:29425 protein_coding YES CCDS46991.1 ENSP00000428878 Q8TF20 UPI0000E9B4A9 NM_133474.3 deleterious(0.04) benign(0.029) 3/3 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF60,hmmpanther:PTHR24376:SF60,Superfamily_domains:SSF57667 1,1 MODERATE SNV 4 1,1 PASS TTT . . 442385 DGKQ . GRCh38 chr4 973482 973482 + Translation_Start_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.1A>C p.Met1? p.M1? ENST00000273814 1/23 71 57 11 30 30 0 DGKQ,start_lost,p.Met1?,ENST00000273814,NM_001347.3;DGKQ,intron_variant,,ENST00000510286,;DGKQ,upstream_gene_variant,,ENST00000509465,;,regulatory_region_variant,,ENSR00000164745,; G ENSG00000145214 ENST00000273814 Transcript start_lost 75/4636 1/2829 1/942 M/L Atg/Ctg 1 -1 DGKQ HGNC HGNC:2856 protein_coding YES CCDS3342.1 ENSP00000273814 P52824 A0A140VKC1 UPI00001AE9B4 NM_001347.3 deleterious_low_confidence(0) benign(0.013) 1/23 mobidb-lite HIGH 1 SNV 1 PASS ATT . . 973482 MRFAP1 . GRCh38 chr4 6640904 6640904 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.42A>C p.Glu14Asp p.E14D ENST00000320912 2/3 142 124 12 30 30 0 MRFAP1,missense_variant,p.Glu14Asp,ENST00000617365,;MRFAP1,missense_variant,p.Glu14Asp,ENST00000320912,NM_033296.2,NM_001272054.1,NM_001272053.1;MRFAP1,missense_variant,p.Glu14Asp,ENST00000382581,;MRFAP1,missense_variant,p.Glu14Asp,ENST00000507420,;MRFAP1,non_coding_transcript_exon_variant,,ENST00000512914,;,regulatory_region_variant,,ENSR00000165440,; C ENSG00000179010 ENST00000320912 Transcript missense_variant 695/2049 42/384 14/127 E/D gaA/gaC 1 1 MRFAP1 HGNC HGNC:24549 protein_coding YES CCDS3389.1 ENSP00000318352 Q9Y605 UPI000006F0BC NM_033296.2,NM_001272054.1,NM_001272053.1 tolerated(0.08) probably_damaging(0.978) 2/3 Pfam_domain:PF15155,hmmpanther:PTHR31324,hmmpanther:PTHR31324:SF1,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS AAG . . 6640904 CCDC96 . GRCh38 chr4 7042582 7042582 + Missense_Mutation SNP T T G rs769192799 7316-2156 BS_H9813KRS T T c.357A>C p.Glu119Asp p.E119D ENST00000310085 1/1 96 78 15 32 32 0 CCDC96,missense_variant,p.Glu119Asp,ENST00000310085,NM_153376.2;TADA2B,intron_variant,,ENST00000506692,;TADA2B,upstream_gene_variant,,ENST00000310074,NM_152293.2;TADA2B,upstream_gene_variant,,ENST00000512388,;AC097382.2,intron_variant,,ENST00000500031,;,regulatory_region_variant,,ENSR00000165515,; G ENSG00000173013 ENST00000310085 Transcript missense_variant 358/2091 357/1668 119/555 E/D gaA/gaC rs769192799 1 -1 CCDC96 HGNC HGNC:26900 protein_coding YES CCDS3395.1 ENSP00000309285 Q2M329 UPI00000705C9 NM_153376.2 deleterious_low_confidence(0.05) benign(0.007) 1/1 hmmpanther:PTHR15654,hmmpanther:PTHR15654:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS GTT . . 5.384e-06 3.735e-05 7042582 BEND4 . GRCh38 chr4 42151806 42151806 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.338T>G p.Leu113Trp p.L113W ENST00000502486 2/6 94 71 11 33 33 0 BEND4,missense_variant,p.Leu113Trp,ENST00000502486,NM_207406.3;BEND4,missense_variant,p.Leu109Trp,ENST00000504360,NM_001159547.1;BEND4,intron_variant,,ENST00000611697,;AC111006.1,intron_variant,,ENST00000645181,; C ENSG00000188848 ENST00000502486 Transcript missense_variant 918/8765 338/1605 113/534 L/W tTg/tGg 1 -1 BEND4 HGNC HGNC:23815 protein_coding YES CCDS47048.1 ENSP00000421169 Q6ZU67 UPI00015386AF NM_207406.3 tolerated_low_confidence(0.18) benign(0.406) 2/6 mobidb-lite,hmmpanther:PTHR35082 MODERATE 1 SNV 1 PASS CAA . . 42151806 IGFBP7 . GRCh38 chr4 57110068 57110068 + Missense_Mutation SNP T T C rs1133243 7316-2156 BS_H9813KRS T T c.284A>G p.Lys95Arg p.K95R ENST00000295666 1/5 145 126 15 53 50 0 IGFBP7,missense_variant,p.Lys95Arg,ENST00000295666,NM_001553.2;IGFBP7,missense_variant,p.Lys95Arg,ENST00000514062,NM_001253835.1;IGFBP7-AS1,intron_variant,,ENST00000499667,;IGFBP7-AS1,intron_variant,,ENST00000508328,;,regulatory_region_variant,,ENSR00000168735,; C ENSG00000163453 ENST00000295666 Transcript missense_variant 318/1427 284/849 95/282 K/R aAg/aGg rs1133243 1 -1 IGFBP7 HGNC HGNC:5476 protein_coding YES CCDS3512.1 ENSP00000295666 Q16270 UPI00000422D2 NM_001553.2 tolerated(0.21) benign(0.001) 1/5 Low_complexity_(Seg):seg,PROSITE_profiles:PS51323,hmmpanther:PTHR14186:SF15,hmmpanther:PTHR14186,Gene3D:3.30.60.30,PIRSF_domain:PIRSF018239,SMART_domains:SM00121,Superfamily_domains:SSF57184 16100382,15731336 MODERATE 1 SNV 1 1 PASS CTT . . 6.26e-06 1.494e-05 57110068 IGFBP7 . GRCh38 chr4 57110168 57110168 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.184A>C p.Met62Leu p.M62L ENST00000295666 1/5 128 105 16 49 49 0 IGFBP7,missense_variant,p.Met62Leu,ENST00000295666,NM_001553.2;IGFBP7,missense_variant,p.Met62Leu,ENST00000514062,NM_001253835.1;IGFBP7-AS1,intron_variant,,ENST00000499667,;IGFBP7-AS1,intron_variant,,ENST00000508328,;,regulatory_region_variant,,ENSR00000168735,; G ENSG00000163453 ENST00000295666 Transcript missense_variant 218/1427 184/849 62/282 M/L Atg/Ctg 1 -1 IGFBP7 HGNC HGNC:5476 protein_coding YES CCDS3512.1 ENSP00000295666 Q16270 UPI00000422D2 NM_001553.2 tolerated(0.63) benign(0) 1/5 PROSITE_profiles:PS51323,hmmpanther:PTHR14186:SF15,hmmpanther:PTHR14186,Pfam_domain:PF00219,PIRSF_domain:PIRSF018239,SMART_domains:SM00121,Superfamily_domains:SSF57184 MODERATE 1 SNV 1 1 PASS ATA . . 57110168 ALB . GRCh38 chr4 73408806 73408806 + Splice_Site SNP G G A rs17853494 7316-2156 BS_H9813KRS G G c.482+1G>A p.X161_splice ENST00000295897 123 113 9 31 31 0 ALB,splice_donor_variant,,ENST00000295897,NM_000477.5;ALB,splice_donor_variant,,ENST00000441319,;ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000621085,;ALB,splice_donor_variant,,ENST00000621628,;ALB,intron_variant,,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,intron_variant,,ENST00000503124,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000505649,;ALB,splice_donor_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000507673,; A ENSG00000163631 ENST00000295897 Transcript splice_donor_variant rs17853494 1 1 ALB HGNC HGNC:399 protein_coding YES CCDS3555.1 ENSP00000295897 P02768 UPI000002C1AC NM_000477.5 4/14 HIGH 1 SNV 1 1 PASS AGT . . 73408806 ALB . GRCh38 chr4 73412127 73412127 + Splice_Site SNP T T C rs75882921 7316-2156 BS_H9813KRS T T c.843+2T>C p.X281_splice ENST00000295897 131 119 8 37 37 0 ALB,splice_donor_variant,,ENST00000295897,NM_000477.5;ALB,splice_donor_variant,,ENST00000401494,;ALB,splice_donor_variant,,ENST00000415165,;ALB,splice_donor_variant,,ENST00000503124,;ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000511370,;ALB,intron_variant,,ENST00000621085,;ALB,intron_variant,,ENST00000621628,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,splice_donor_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,splice_donor_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,; C ENSG00000163631 ENST00000295897 Transcript splice_donor_variant rs75882921 1 1 ALB HGNC HGNC:399 protein_coding YES CCDS3555.1 ENSP00000295897 P02768 UPI000002C1AC NM_000477.5 7/14 HIGH 1 SNV 1 1 PASS GTA . . 73412127 ALB . GRCh38 chr4 73416355 73416355 + Splice_Site SNP T T C rs77232890 7316-2156 BS_H9813KRS T T c.1289+2T>C p.X430_splice ENST00000295897 124 112 9 44 43 0 ALB,splice_donor_variant,,ENST00000295897,NM_000477.5;ALB,splice_donor_variant,,ENST00000401494,;ALB,splice_donor_variant,,ENST00000415165,;ALB,splice_donor_variant,,ENST00000503124,;ALB,splice_donor_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000621085,;ALB,splice_donor_variant,,ENST00000621628,;ALB,splice_donor_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,splice_donor_variant,,ENST00000476441,;ALB,splice_donor_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000508932,; C ENSG00000163631 ENST00000295897 Transcript splice_donor_variant rs77232890 1 1 ALB HGNC HGNC:399 protein_coding YES CCDS3555.1 ENSP00000295897 P02768 UPI000002C1AC NM_000477.5 10/14 HIGH 1 SNV 1 1 PASS GTA . . 73416355 ALB . GRCh38 chr4 73418087 73418087 + Splice_Site SNP G G T rs77256214 7316-2156 BS_H9813KRS G G c.1429-1G>T p.X477_splice ENST00000295897 130 118 10 46 46 0 ALB,splice_acceptor_variant,,ENST00000295897,NM_000477.5;ALB,splice_acceptor_variant,,ENST00000401494,;ALB,splice_acceptor_variant,,ENST00000415165,;ALB,splice_acceptor_variant,,ENST00000503124,;ALB,splice_acceptor_variant,,ENST00000509063,;ALB,splice_acceptor_variant,,ENST00000511370,;ALB,splice_acceptor_variant,,ENST00000621085,;ALB,splice_acceptor_variant,,ENST00000621628,;ALB,splice_acceptor_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,splice_acceptor_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000508932,;,TF_binding_site_variant,,MA0138.2,; T ENSG00000163631 ENST00000295897 Transcript splice_acceptor_variant rs77256214,COSM3702635 1 1 ALB HGNC HGNC:399 protein_coding YES CCDS3555.1 ENSP00000295897 P02768 UPI000002C1AC NM_000477.5 11/14 0,1 HIGH 1 SNV 1 0,1 1 PASS AGC . . 73418087 ALB . GRCh38 chr4 73419504 73419504 + Splice_Region SNP C C A novel 7316-2156 BS_H9813KRS C C c.1653-3C>A ENST00000295897 200 96 8 40 39 0 ALB,splice_region_variant,,ENST00000295897,NM_000477.5;ALB,splice_region_variant,,ENST00000401494,;ALB,splice_region_variant,,ENST00000415165,;ALB,splice_region_variant,,ENST00000503124,;ALB,splice_region_variant,,ENST00000509063,;ALB,splice_region_variant,,ENST00000511370,;ALB,splice_region_variant,,ENST00000621085,;ALB,splice_region_variant,,ENST00000621628,;ALB,splice_region_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,splice_region_variant,,ENST00000476441,;ALB,splice_region_variant,,ENST00000486939,;ALB,intron_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,; A ENSG00000163631 ENST00000295897 Transcript splice_region_variant,intron_variant 1 1 ALB HGNC HGNC:399 protein_coding YES CCDS3555.1 ENSP00000295897 P02768 UPI000002C1AC NM_000477.5 12/14 LOW 1 SNV 1 1 PASS TCA . . 73419504 ALB . GRCh38 chr4 73419506 73419506 + Splice_Site SNP G G C rs78501144 7316-2156 BS_H9813KRS G G c.1653-1G>C p.X551_splice ENST00000295897 205 95 14 40 38 0 ALB,splice_acceptor_variant,,ENST00000295897,NM_000477.5;ALB,splice_acceptor_variant,,ENST00000401494,;ALB,splice_acceptor_variant,,ENST00000415165,;ALB,splice_acceptor_variant,,ENST00000503124,;ALB,splice_acceptor_variant,,ENST00000509063,;ALB,splice_acceptor_variant,,ENST00000511370,;ALB,splice_acceptor_variant,,ENST00000621085,;ALB,splice_acceptor_variant,,ENST00000621628,;ALB,splice_acceptor_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,splice_acceptor_variant,,ENST00000476441,;ALB,splice_acceptor_variant,,ENST00000486939,;ALB,intron_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,; C ENSG00000163631 ENST00000295897 Transcript splice_acceptor_variant rs78501144 1 1 ALB HGNC HGNC:399 protein_coding YES CCDS3555.1 ENSP00000295897 P02768 UPI000002C1AC NM_000477.5 12/14 HIGH 1 SNV 1 1 PASS AGT . . 73419506 ALB . GRCh38 chr4 73420322 73420322 + Splice_Site SNP G G C novel 7316-2156 BS_H9813KRS G G c.*23+1G>C ENST00000295897 131 123 6 40 38 0 ALB,splice_donor_variant,,ENST00000295897,NM_000477.5;ALB,splice_donor_variant,,ENST00000401494,;ALB,splice_donor_variant,,ENST00000415165,;ALB,splice_donor_variant,,ENST00000503124,;ALB,splice_donor_variant,,ENST00000511370,;ALB,splice_donor_variant,,ENST00000621085,;ALB,splice_donor_variant,,ENST00000621628,;ALB,intron_variant,,ENST00000509063,;ALB,splice_donor_variant,,ENST00000495173,;ALB,splice_donor_variant,,ENST00000505649,;ALB,splice_donor_variant,,ENST00000476441,;ALB,splice_donor_variant,,ENST00000508932,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000504043,; C ENSG00000163631 ENST00000295897 Transcript splice_donor_variant 1 1 ALB HGNC HGNC:399 protein_coding YES CCDS3555.1 ENSP00000295897 P02768 UPI000002C1AC NM_000477.5 14/14 HIGH 1 SNV 1 1 PASS GGT . . 73420322 PKD2 . GRCh38 chr4 88008005 88008005 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.272A>C p.Asn91Thr p.N91T ENST00000237596 1/15 93 79 10 28 28 0 PKD2,missense_variant,p.Asn91Thr,ENST00000237596,NM_000297.3;PKD2,upstream_gene_variant,,ENST00000506727,;,regulatory_region_variant,,ENSR00000170535,; C ENSG00000118762 ENST00000237596 Transcript missense_variant 338/5056 272/2907 91/968 N/T aAc/aCc 1 1 PKD2 HGNC HGNC:9009 protein_coding YES CCDS3627.1 ENSP00000237596 Q13563 UPI000013CA1D NM_000297.3 deleterious_low_confidence(0) benign(0.003) 1/15 hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF114,mobidb-lite MODERATE 1 SNV 1 1 PASS AAC . . 88008005 SEC24B . GRCh38 chr4 109434000 109434000 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.131A>C p.Asn44Thr p.N44T ENST00000504968 1/25 84 68 11 36 36 0 SEC24B,missense_variant,p.Asn44Thr,ENST00000265175,NM_006323.4,NM_001318085.1;SEC24B,missense_variant,p.Asn44Thr,ENST00000504968,NM_001300813.2;SEC24B,missense_variant,p.Asn44Thr,ENST00000399100,NM_001318086.1,NM_001042734.3;SEC24B-AS1,upstream_gene_variant,,ENST00000499359,;SEC24B-AS1,upstream_gene_variant,,ENST00000505895,;SEC24B-AS1,upstream_gene_variant,,ENST00000510971,;,regulatory_region_variant,,ENSR00000171830,; C ENSG00000138802 ENST00000504968 Transcript missense_variant,splice_region_variant 229/4066 131/3897 44/1298 N/T aAc/aCc 1 1 SEC24B HGNC HGNC:10704 protein_coding YES CCDS75179.1 ENSP00000428564 O95487 UPI000189A7A7 NM_001300813.2 deleterious_low_confidence(0.01) possibly_damaging(0.727) 1/25 Prints_domain:PR02045,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 109434000 FAM241A . GRCh38 chr4 112145625 112145625 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.45A>C p.Glu15Asp p.E15D ENST00000309733 1/2 114 98 15 38 37 0 FAM241A,missense_variant,p.Glu15Asp,ENST00000309733,NM_152400.2;,regulatory_region_variant,,ENSR00000172038,; C ENSG00000174749 ENST00000309733 Transcript missense_variant 229/8901 45/399 15/132 E/D gaA/gaC 1 1 FAM241A HGNC HGNC:26813 protein_coding YES CCDS3695.1 ENSP00000310182 Q8N8J7 UPI000013EF13 NM_152400.2 tolerated_low_confidence(0.52) benign(0.001) 1/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR33690,hmmpanther:PTHR33690:SF1 MODERATE 1 SNV 1 PASS AAC . . 112145625 TRIO . GRCh38 chr5 14487494 14487494 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.6866A>C p.Asn2289Thr p.N2289T ENST00000344204 48/57 92 76 10 23 22 0 TRIO,missense_variant,p.Asn2289Thr,ENST00000344204,NM_007118.3;TRIO,missense_variant,p.Asn2022Thr,ENST00000513206,;TRIO,intron_variant,,ENST00000620511,;TRIO,upstream_gene_variant,,ENST00000344135,;TRIO,missense_variant,p.Asn2230Thr,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;TRIO,non_coding_transcript_exon_variant,,ENST00000510281,;TRIO,upstream_gene_variant,,ENST00000503399,;,regulatory_region_variant,,ENSR00000178354,; C ENSG00000038382 ENST00000344204 Transcript missense_variant 6890/11100 6866/9294 2289/3097 N/T aAc/aCc 1 1 TRIO HGNC HGNC:12303 protein_coding YES CCDS3883.1 ENSP00000339299 O75962 UPI000034ECE6 NM_007118.3 tolerated(0.18) benign(0.13) 48/57 hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF104,mobidb-lite MODERATE 1 SNV 1 1 PASS AAC . . 14487494 MARCH11 . GRCh38 chr5 16179370 16179370 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.206T>G p.Leu69Arg p.L69R ENST00000332432 1/4 59 36 16 29 27 0 MARCH11,missense_variant,p.Leu69Arg,ENST00000332432,NM_001102562.1;MARCH11,upstream_gene_variant,,ENST00000507111,;AC092335.1,upstream_gene_variant,,ENST00000509037,;MARCH11,intron_variant,,ENST00000505509,; C ENSG00000183654 ENST00000332432 Transcript missense_variant 406/1741 206/1209 69/402 L/R cTa/cGa 1 -1 MARCH11 HGNC HGNC:33609 protein_coding YES CCDS47192.1 ENSP00000333181 A6NNE9 UPI00015B3D4A NM_001102562.1 tolerated_low_confidence(0.25) benign(0) 1/4 hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF67,mobidb-lite MODERATE SNV 5 PASS TAG . . 16179370 PJA2 . GRCh38 chr5 109362836 109362836 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.1652+4T>G ENST00000361189 126 116 8 39 39 0 PJA2,splice_region_variant,,ENST00000361189,NM_014819.4;PJA2,splice_region_variant,,ENST00000361557,; C ENSG00000198961 ENST00000361189 Transcript splice_region_variant,intron_variant 1 -1 PJA2 HGNC HGNC:17481 protein_coding YES CCDS4099.1 ENSP00000354775 O43164 UPI000013D192 NM_014819.4 6/9 LOW 1 SNV 1 PASS CAT . . 109362836 TGFBI . GRCh38 chr5 136053020 136053020 + Missense_Mutation SNP A A G rs35920018 7316-2156 BS_H9813KRS A A c.1027A>G p.Met343Val p.M343V ENST00000442011 8/17 173 122 49 36 36 0 TGFBI,missense_variant,p.Met343Val,ENST00000442011,NM_000358.2;TGFBI,missense_variant,p.Met61Val,ENST00000514554,;TGFBI,missense_variant,p.Met87Val,ENST00000604555,;TGFBI,missense_variant,p.Met82Val,ENST00000508767,;TGFBI,3_prime_UTR_variant,,ENST00000507018,;TGFBI,non_coding_transcript_exon_variant,,ENST00000515433,;TGFBI,non_coding_transcript_exon_variant,,ENST00000506699,;TGFBI,upstream_gene_variant,,ENST00000509485,;TGFBI,downstream_gene_variant,,ENST00000509749,;TGFBI,upstream_gene_variant,,ENST00000514242,; G ENSG00000120708 ENST00000442011 Transcript missense_variant 1188/2804 1027/2052 343/683 M/V Atg/Gtg rs35920018 1 1 TGFBI HGNC HGNC:11771 protein_coding YES CCDS47266.1 ENSP00000416330 Q15582 A0A0S2Z4Q2 UPI0000000C6A NM_000358.2 tolerated(0.14) benign(0.001) 8/17 Gene3D:2.30.180.10,PDB-ENSP_mappings:5nv6.A,PDB-ENSP_mappings:5nv6.B,Pfam_domain:PF02469,PIRSF_domain:PIRSF016553,PROSITE_profiles:PS50213,hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF82,SMART_domains:SM00554,Superfamily_domains:SSF82153 0.0068 0.025 0.0014 0.02169 likely_benign MODERATE 1 SNV 1 1 1 PASS CAT . . 0.001743 0.02465 0.001072 5.373e-05 0.001825 136053020 TCOF1 . GRCh38 chr5 150379687 150379687 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.2814A>C p.Glu938Asp p.E938D ENST00000377797 17/27 121 104 14 40 40 0 TCOF1,missense_variant,p.Glu938Asp,ENST00000377797,NM_001135243.1;TCOF1,missense_variant,p.Glu938Asp,ENST00000642994,;TCOF1,missense_variant,p.Glu938Asp,ENST00000643257,;TCOF1,missense_variant,p.Glu861Asp,ENST00000323668,NM_000356.3;TCOF1,missense_variant,p.Glu861Asp,ENST00000445265,NM_001135245.1;TCOF1,missense_variant,p.Glu938Asp,ENST00000427724,NM_001195141.1;TCOF1,missense_variant,p.Glu938Asp,ENST00000513346,;TCOF1,missense_variant,p.Glu938Asp,ENST00000439160,NM_001135244.1;TCOF1,missense_variant,p.Glu938Asp,ENST00000504761,;TCOF1,missense_variant,p.Glu938Asp,ENST00000513538,;TCOF1,missense_variant,p.Glu938Asp,ENST00000394269,NM_001008657.2;TCOF1,intron_variant,,ENST00000515516,;TCOF1,downstream_gene_variant,,ENST00000646961,;TCOF1,downstream_gene_variant,,ENST00000506063,;TCOF1,missense_variant,p.Glu97Asp,ENST00000506767,;TCOF1,non_coding_transcript_exon_variant,,ENST00000515035,;TCOF1,non_coding_transcript_exon_variant,,ENST00000514442,; C ENSG00000070814 ENST00000377797 Transcript missense_variant 2922/5095 2814/4467 938/1488 E/D gaA/gaC 1 1 TCOF1 HGNC HGNC:11654 protein_coding YES CCDS54936.1 ENSP00000367028 Q13428 UPI0000EE3736 NM_001135243.1 tolerated(0.07) benign(0.191) 17/27 Pfam_domain:PF03546,hmmpanther:PTHR20787,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS AAT . . 150379687 SPARC . GRCh38 chr5 151664237 151664237 + Splice_Site SNP T T C novel 7316-2156 BS_H9813KRS T T c.735-2A>G p.X245_splice ENST00000231061 110 96 11 47 45 0 SPARC,splice_acceptor_variant,,ENST00000231061,NM_001309443.1,NM_003118.3,NM_001309444.1;SPARC,downstream_gene_variant,,ENST00000521569,;SPARC,downstream_gene_variant,,ENST00000538026,;SPARC,downstream_gene_variant,,ENST00000537849,;SPARC,splice_acceptor_variant,,ENST00000520687,;SPARC,downstream_gene_variant,,ENST00000524277,;,regulatory_region_variant,,ENSR00000189153,; C ENSG00000113140 ENST00000231061 Transcript splice_acceptor_variant 1 -1 SPARC HGNC HGNC:11219 protein_coding YES CCDS4318.1 ENSP00000231061 P09486 UPI0000040638 NM_001309443.1,NM_003118.3,NM_001309444.1 8/9 HIGH 1 SNV 1 1 PASS CTG . . 151664237 SPARC . GRCh38 chr5 151667464 151667464 + Splice_Region SNP T T C novel 7316-2156 BS_H9813KRS T T c.585+3A>G ENST00000231061 115 101 8 27 27 0 SPARC,splice_region_variant,,ENST00000231061,NM_001309443.1,NM_003118.3,NM_001309444.1;SPARC,splice_region_variant,,ENST00000521569,;SPARC,splice_region_variant,,ENST00000538026,;SPARC,downstream_gene_variant,,ENST00000539687,;SPARC,splice_region_variant,,ENST00000537849,;SPARC,splice_region_variant,,ENST00000520687,;SPARC,downstream_gene_variant,,ENST00000524277,; C ENSG00000113140 ENST00000231061 Transcript splice_region_variant,intron_variant 1 -1 SPARC HGNC HGNC:11219 protein_coding YES CCDS4318.1 ENSP00000231061 P09486 UPI0000040638 NM_001309443.1,NM_003118.3,NM_001309444.1 7/9 LOW 1 SNV 1 1 PASS TTA . . 151667464 LSM11 . GRCh38 chr5 157743751 157743751 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1A>C p.Met1? p.M1? ENST00000286307 1/4 104 89 11 43 43 0 LSM11,start_lost,p.Met1?,ENST00000286307,NM_173491.3;THG1L,downstream_gene_variant,,ENST00000231198,NM_001317826.1,NM_001317824.1,NM_001317825.1,NM_017872.4;THG1L,downstream_gene_variant,,ENST00000521655,;THG1L,downstream_gene_variant,,ENST00000523575,;,regulatory_region_variant,,ENSR00000189604,;AC026407.1,downstream_gene_variant,,ENST00000518369,; C ENSG00000155858 ENST00000286307 Transcript start_lost 57/6584 1/1083 1/360 M/L Atg/Ctg 1 1 LSM11 HGNC HGNC:30860 protein_coding YES CCDS4342.1 ENSP00000286307 P83369 UPI0000072830 NM_173491.3 deleterious_low_confidence(0) benign(0.052) 1/4 mobidb-lite HIGH 1 SNV 1 PASS CAT . . 157743751 SLIT3 . GRCh38 chr5 169300709 169300709 + Translation_Start_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.1A>C p.Met1? p.M1? ENST00000332966 1/36 122 105 8 33 32 1 SLIT3,start_lost,p.Met1?,ENST00000519560,NM_003062.3;SLIT3,start_lost,p.Met1?,ENST00000332966,NM_001271946.1;SLIT3,non_coding_transcript_exon_variant,,ENST00000521130,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,;,regulatory_region_variant,,ENSR00000190427,; G ENSG00000184347 ENST00000332966 Transcript start_lost 74/4895 1/4593 1/1530 M/L Atg/Ctg 1 -1 SLIT3 HGNC HGNC:11087 protein_coding YES CCDS64311.1 ENSP00000332164 O75094 UPI0001E8F75D NM_001271946.1 tolerated_low_confidence(0.58) benign(0.003) 1/36 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 169300709 RNF44 . GRCh38 chr5 176530898 176530898 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.589A>C p.Met197Leu p.M197L ENST00000274811 5/11 74 59 10 28 27 0 RNF44,missense_variant,p.Met197Leu,ENST00000274811,NM_014901.4;RNF44,upstream_gene_variant,,ENST00000506378,;RNF44,downstream_gene_variant,,ENST00000509404,;RNF44,3_prime_UTR_variant,,ENST00000513029,;RNF44,downstream_gene_variant,,ENST00000504160,;RNF44,downstream_gene_variant,,ENST00000504434,;RNF44,upstream_gene_variant,,ENST00000508478,;RNF44,upstream_gene_variant,,ENST00000515051,; G ENSG00000146083 ENST00000274811 Transcript missense_variant 1114/4155 589/1299 197/432 M/L Atg/Ctg 1 -1 RNF44 HGNC HGNC:19180 protein_coding YES CCDS4404.1 ENSP00000274811 Q7L0R7 A0A024R7Q1 UPI0000073CDA NM_014901.4 tolerated(1) benign(0) 5/11 hmmpanther:PTHR14155,hmmpanther:PTHR14155:SF79 MODERATE 1 SNV 1 PASS ATG . . 176530898 PDLIM7 . GRCh38 chr5 177489480 177489480 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.782T>G p.Ile261Ser p.I261S ENST00000355841 9/13 107 94 9 49 49 0 PDLIM7,missense_variant,p.Ile261Ser,ENST00000355841,NM_005451.4;PDLIM7,missense_variant,p.Ile227Ser,ENST00000359895,NM_203352.2;PDLIM7,missense_variant,p.His240Gln,ENST00000393551,;PDLIM7,downstream_gene_variant,,ENST00000355572,NM_213636.2;PDLIM7,downstream_gene_variant,,ENST00000393546,;PDLIM7,downstream_gene_variant,,ENST00000505074,;PDLIM7,downstream_gene_variant,,ENST00000506161,;PDLIM7,downstream_gene_variant,,ENST00000506537,;PDLIM7,upstream_gene_variant,,ENST00000505746,;PDLIM7,3_prime_UTR_variant,,ENST00000486828,;PDLIM7,3_prime_UTR_variant,,ENST00000493815,;PDLIM7,downstream_gene_variant,,ENST00000463411,;PDLIM7,downstream_gene_variant,,ENST00000503346,;PDLIM7,downstream_gene_variant,,ENST00000503827,;PDLIM7,downstream_gene_variant,,ENST00000504318,; C ENSG00000196923 ENST00000355841 Transcript missense_variant 849/1689 782/1374 261/457 I/S aTt/aGt 1 -1 PDLIM7 HGNC HGNC:22958 protein_coding YES CCDS4422.1 ENSP00000348099 Q9NR12 UPI0000073DEF NM_005451.4 tolerated(0.06) benign(0.367) 9/13 hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF0 MODERATE 1 SNV 1 PASS AAT . . 177489480 COL23A1 . GRCh38 chr5 178590148 178590148 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.50A>C p.Asn17Thr p.N17T ENST00000390654 1/29 146 124 18 44 43 0 COL23A1,missense_variant,p.Asn17Thr,ENST00000390654,NM_173465.3;,regulatory_region_variant,,ENSR00000191480,; G ENSG00000050767 ENST00000390654 Transcript missense_variant 408/3061 50/1623 17/540 N/T aAt/aCt 1 -1 COL23A1 HGNC HGNC:22990 protein_coding YES CCDS4436.1 ENSP00000375069 Q86Y22 UPI0000062274 NM_173465.3 tolerated_low_confidence(0.05) benign(0.001) 1/29 hmmpanther:PTHR45108,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATT . . 178590148 COL23A1 . GRCh38 chr5 178590196 178590196 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.2T>G p.Met1? p.M1? ENST00000390654 1/29 145 119 13 46 45 0 COL23A1,start_lost,p.Met1?,ENST00000390654,NM_173465.3;,regulatory_region_variant,,ENSR00000191480,; C ENSG00000050767 ENST00000390654 Transcript start_lost 360/3061 2/1623 1/540 M/R aTg/aGg 1 -1 COL23A1 HGNC HGNC:22990 protein_coding YES CCDS4436.1 ENSP00000375069 Q86Y22 UPI0000062274 NM_173465.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/29 mobidb-lite HIGH 1 SNV 5 PASS CAT . . 178590196 ADAMTS2 . GRCh38 chr5 179113974 179113974 + Missense_Mutation SNP G G A rs1054480 7316-2156 BS_H9813KRS G G c.3529C>T p.Pro1177Ser p.P1177S ENST00000251582 22/22 103 96 5 30 29 0 ADAMTS2,missense_variant,p.Pro1177Ser,ENST00000251582,NM_014244.4;ADAMTS2,downstream_gene_variant,,ENST00000522937,;ADAMTS2,downstream_gene_variant,,ENST00000523450,; A ENSG00000087116 ENST00000251582 Transcript missense_variant 3631/6754 3529/3636 1177/1211 P/S Ccc/Tcc rs1054480,COSM3761149 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 tolerated_low_confidence(0.71) benign(0.084) 22/22 mobidb-lite 0.2638 0.0401 0.3833 0.3105 0.2952 0.4008 0.08103 0.2938 benign 0,1 23491141,18790654,28523640 MODERATE 1 SNV 1 1,1 1 PASS GGT . . 0.3089 0.07325 0.4086 0.3095 0.3207 0.2929 0.2952 0.3181 0.3705 179113974 RUFY1 . GRCh38 chr5 179550796 179550796 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.227A>C p.Asn76Thr p.N76T ENST00000319449 1/18 108 92 12 27 26 0 RUFY1,missense_variant,p.Asn76Thr,ENST00000319449,NM_025158.4;RUFY1,upstream_gene_variant,,ENST00000502984,;RUFY1,upstream_gene_variant,,ENST00000393448,;,regulatory_region_variant,,ENSR00000191561,; C ENSG00000176783 ENST00000319449 Transcript missense_variant 239/2646 227/2127 76/708 N/T aAc/aCc 1 1 RUFY1 HGNC HGNC:19760 protein_coding YES CCDS4445.2 ENSP00000325594 Q96T51 UPI0000D74C3F NM_025158.4 tolerated_low_confidence(1) benign(0) 1/18 hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF84 MODERATE 1 SNV 1 PASS AAC . . 179550796 SQSTM1 . GRCh38 chr5 179821099 179821099 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.163T>G p.Phe55Val p.F55V ENST00000389805 1/8 140 125 13 36 36 0 SQSTM1,missense_variant,p.Phe55Val,ENST00000389805,NM_003900.4;SQSTM1,missense_variant,p.Phe55Val,ENST00000510187,;SQSTM1,missense_variant,p.Phe55Val,ENST00000504627,;SQSTM1,missense_variant,p.Phe55Val,ENST00000626660,;SQSTM1,intron_variant,,ENST00000422245,;SQSTM1,intron_variant,,ENST00000514093,;SQSTM1,upstream_gene_variant,,ENST00000360718,NM_001142299.1,NM_001142298.1;SQSTM1,intron_variant,,ENST00000464493,;SQSTM1,intron_variant,,ENST00000481335,;SQSTM1,missense_variant,p.Phe55Val,ENST00000508284,;SQSTM1,missense_variant,p.Phe55Val,ENST00000453046,;SQSTM1,upstream_gene_variant,,ENST00000466342,;SQSTM1,upstream_gene_variant,,ENST00000485412,;,regulatory_region_variant,,ENSR00000191597,; G ENSG00000161011 ENST00000389805 Transcript missense_variant 341/2986 163/1323 55/440 F/V Ttc/Gtc 1 1 SQSTM1 HGNC HGNC:11280 protein_coding YES CCDS34317.1 ENSP00000374455 Q13501 UPI0000071099 NM_003900.4 deleterious(0) probably_damaging(0.988) 1/8 PROSITE_profiles:PS51745,cd06402,hmmpanther:PTHR15090,Pfam_domain:PF00564,Gene3D:3.10.20.90,SMART_domains:SM00666,Superfamily_domains:SSF54277 MODERATE 1 SNV 1 1 PASS GTT . . 179821099 SQSTM1 . GRCh38 chr5 179833030 179833030 + Splice_Site SNP A A G rs111688869 7316-2156 BS_H9813KRS A A c.755-2A>G p.X252_splice ENST00000389805 104 88 11 30 28 0 SQSTM1,splice_acceptor_variant,,ENST00000360718,NM_001142299.1,NM_001142298.1;SQSTM1,splice_acceptor_variant,,ENST00000389805,NM_003900.4;SQSTM1,splice_acceptor_variant,,ENST00000510187,;MRNIP,downstream_gene_variant,,ENST00000292586,NM_016175.3;MRNIP,downstream_gene_variant,,ENST00000376931,NM_001017987.2;MRNIP,downstream_gene_variant,,ENST00000518219,;MRNIP,downstream_gene_variant,,ENST00000518235,;MRNIP,downstream_gene_variant,,ENST00000520698,;MRNIP,downstream_gene_variant,,ENST00000521333,;MRNIP,downstream_gene_variant,,ENST00000523084,;MRNIP,downstream_gene_variant,,ENST00000610475,;MRNIP,downstream_gene_variant,,ENST00000523267,;SQSTM1,splice_acceptor_variant,,ENST00000466342,;MRNIP,downstream_gene_variant,,ENST00000518950,;MRNIP,downstream_gene_variant,,ENST00000521299,;MRNIP,downstream_gene_variant,,ENST00000522663,; G ENSG00000161011 ENST00000389805 Transcript splice_acceptor_variant rs111688869 1 1 SQSTM1 HGNC HGNC:11280 protein_coding YES CCDS34317.1 ENSP00000374455 Q13501 UPI0000071099 NM_003900.4 5/7 HIGH 1 SNV 1 1 PASS TAG . . 179833030 MGAT1 . GRCh38 chr5 180791668 180791668 + Missense_Mutation SNP A A G rs634501 7316-2156 BS_H9813KRS A A c.1304T>C p.Leu435Pro p.L435P ENST00000333055 3/3 119 105 13 30 30 0 MGAT1,missense_variant,p.Leu435Pro,ENST00000333055,;MGAT1,missense_variant,p.Leu435Pro,ENST00000446023,NM_001114618.1;MGAT1,missense_variant,p.Leu435Pro,ENST00000393340,NM_001114617.1;MGAT1,missense_variant,p.Leu435Pro,ENST00000307826,NM_002406.3;MGAT1,missense_variant,p.Leu435Pro,ENST00000427865,NM_001114619.1,NM_001114620.1;MGAT1,downstream_gene_variant,,ENST00000502678,;MGAT1,downstream_gene_variant,,ENST00000504671,;MGAT1,downstream_gene_variant,,ENST00000506269,;MGAT1,downstream_gene_variant,,ENST00000506889,;MGAT1,downstream_gene_variant,,ENST00000507384,;MGAT1,downstream_gene_variant,,ENST00000512695,;MGAT1,downstream_gene_variant,,ENST00000513431,;MGAT1,downstream_gene_variant,,ENST00000514283,;MGAT1,downstream_gene_variant,,ENST00000514438,;MGAT1,downstream_gene_variant,,ENST00000504385,;MGAT1,downstream_gene_variant,,ENST00000505682,;MGAT1,downstream_gene_variant,,ENST00000514760,; G ENSG00000131446 ENST00000333055 Transcript missense_variant 1977/8863 1304/1338 435/445 L/P cTg/cCg rs634501,COSM449473 1 -1 MGAT1 HGNC HGNC:7044 protein_coding YES CCDS4458.1 ENSP00000332073 P26572 UPI000013CDF1 benign(0.003) 3/3 hmmpanther:PTHR10468:SF0,hmmpanther:PTHR10468,Pfam_domain:PF03071,Gene3D:3.10.180.20,Superfamily_domains:SSF53448 0.733 0.879 0.5576 0.5526 0.7455 0.8333 0.8382 0.7319 0,1 21629267 MODERATE 1 SNV 2 0,1 PASS CAG . . 0.7141 0.8496 0.5318 0.6512 0.5386 0.7851 0.7412 0.6959 0.8183 180791668 DSP . GRCh38 chr6 7567450 7567450 + Splice_Site SNP G G T rs1022430372 7316-2156 BS_H9813KRS G G c.1140+1G>T p.X380_splice ENST00000379802 119 112 7 58 58 0 DSP,splice_donor_variant,,ENST00000379802,NM_004415.3;DSP,splice_donor_variant,,ENST00000418664,NM_001319034.1,NM_001008844.2;DSP,downstream_gene_variant,,ENST00000506617,; T ENSG00000096696 ENST00000379802 Transcript splice_donor_variant rs1022430372 1 1 DSP HGNC HGNC:3052 protein_coding YES CCDS4501.1 ENSP00000369129 P15924 UPI000013C67F NM_004415.3 9/23 HIGH 1 SNV 1 1 PASS GGT . . 7567450 TXNDC5 . GRCh38 chr6 7889492 7889492 + Splice_Region SNP T T C rs368842506 7316-2156 BS_H9813KRS T T c.819+3A>G ENST00000379757 111 102 7 43 42 0 TXNDC5,splice_region_variant,,ENST00000379757,NM_030810.3;TXNDC5,splice_region_variant,,ENST00000473453,NM_001145549.2;BLOC1S5-TXNDC5,splice_region_variant,,ENST00000439343,;TXNDC5,upstream_gene_variant,,ENST00000460138,;TXNDC5,upstream_gene_variant,,ENST00000475802,; C ENSG00000239264 ENST00000379757 Transcript splice_region_variant,intron_variant rs368842506 1 -1 TXNDC5 HGNC HGNC:21073 protein_coding YES CCDS4505.1 ENSP00000369081 Q8NBS9 UPI0000048EC3 NM_030810.3 6/9 0.000227 LOW 1 SNV 1 PASS GTA . . 8.124e-06 6.538e-05 8.954e-06 7889492 GMPR . GRCh38 chr6 16238695 16238695 + Translation_Start_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2T>G p.Met1? p.M1? ENST00000259727 1/9 110 93 14 41 40 0 GMPR,start_lost,p.Met1?,ENST00000259727,NM_006877.3;,regulatory_region_variant,,ENSR00000193942,; G ENSG00000137198 ENST00000259727 Transcript start_lost 116/1515 2/1038 1/345 M/R aTg/aGg 1 1 GMPR HGNC HGNC:4376 protein_coding YES CCDS4537.1 ENSP00000259727 P36959 UPI000012B8B2 NM_006877.3 deleterious_low_confidence(0) probably_damaging(0.998) 1/9 PDB-ENSP_mappings:2ble.A,PDB-ENSP_mappings:2bwg.A,PDB-ENSP_mappings:2bwg.B,PDB-ENSP_mappings:2bwg.C,PDB-ENSP_mappings:2bwg.D,hmmpanther:PTHR43170:SF3,hmmpanther:PTHR43170,PIRSF_domain:PIRSF000235 HIGH 1 SNV 1 PASS ATG . . 16238695 HIST1H1E . GRCh38 chr6 26156891 26156892 + Frame_Shift_Ins INS - - A rs1168919760 7316-2156 BS_H9813KRS - - c.507dup p.Ala170SerfsTer26 p.A170Sfs*26 ENST00000304218 1/1 160 126 19 40 38 0 HIST1H1E,frameshift_variant,p.Ala170SerfsTer26,ENST00000304218,NM_005321.2;HIST1H2BD,upstream_gene_variant,,ENST00000289316,NM_138720.2;HIST1H2BD,upstream_gene_variant,,ENST00000377777,NM_021063.3;AL353759.1,downstream_gene_variant,,ENST00000635439,;,regulatory_region_variant,,ENSR00000194991,; A ENSG00000168298 ENST00000304218 Transcript frameshift_variant 538-539/754 501-502/660 167-168/219 -/X -/A rs1168919760 1 1 HIST1H1E HGNC HGNC:4718 protein_coding YES CCDS4586.1 ENSP00000307705 P10412 A3R0T8 UPI0000000DB9 NM_005321.2 1/1 Prints_domain:PR00624,hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF57,mobidb-lite,Low_complexity_(Seg):seg HIGH insertion 6 1 PASS CCA . . 26156891 HLA-A . GRCh38 chr6 29942921 29942921 + Missense_Mutation SNP G G A rs1059449 7316-2156 BS_H9813KRS G G c.238G>A p.Gly80Arg p.G80R ENST00000396634 4/10 133 111 12 28 28 0 HLA-A,missense_variant,p.Gly80Arg,ENST00000396634,;HLA-A,missense_variant,p.Gly80Arg,ENST00000376806,;HLA-A,missense_variant,p.Gly80Arg,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.Gly80Arg,ENST00000376802,;HLA-A,missense_variant,p.Gly80Arg,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;HLA-A,intron_variant,,ENST00000496081,;,regulatory_region_variant,,ENSR00000195346,;AL671277.1,non_coding_transcript_exon_variant,,ENST00000429656,; A ENSG00000206503 ENST00000396634 Transcript missense_variant 579/1868 238/1098 80/365 G/R Ggg/Agg rs1059449,COSM5019430,COSM5019429 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D deleterious_low_confidence(0.04) possibly_damaging(0.886) 4/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.0809 0.1528 0.0908 0.0506 0.0537 0.0358 0.1382 0.04919 0,1,1 25940993 MODERATE 1 SNV 0,1,1 1 PASS GGG . . 0.06103 0.1465 0.0939 0.05491 0.04765 0.03958 0.04873 0.07041 0.05078 29942921 HLA-A . GRCh38 chr6 29944600 29944600 + Missense_Mutation SNP G G T rs1443531825 7316-2156 BS_H9813KRS G G c.996G>T p.Trp332Cys p.W332C ENST00000396634 7/10 187 125 56 13 13 0 HLA-A,missense_variant,p.Trp332Cys,ENST00000396634,;HLA-A,missense_variant,p.Trp332Cys,ENST00000376806,;HLA-A,missense_variant,p.Trp332Cys,ENST00000376809,NM_002116.7;HLA-A,intron_variant,,ENST00000376802,;HLA-A,intron_variant,,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;AL671277.1,upstream_gene_variant,,ENST00000429656,; T ENSG00000206503 ENST00000396634 Transcript missense_variant 1337/1868 996/1098 332/365 W/C tgG/tgT rs1443531825 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D tolerated_low_confidence(0.06) possibly_damaging(0.806) 7/10 PDB-ENSP_mappings:6eny.F,Gene3D:1.20.5.100,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 MODERATE 1 SNV 1 PASS GGA . . 29944600 MDC1 . GRCh38 chr6 30704353 30704353 + Missense_Mutation SNP C C A 7316-2156 BS_H9813KRS C C c.4830G>T p.Glu1610Asp p.E1610D ENST00000376406 10/15 101 75 7 38 37 0 MDC1,missense_variant,p.Glu1610Asp,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 5478/7576 4830/6270 1610/2089 E/D gaG/gaT COSM5956249,COSM5956248 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(0.13) probably_damaging(0.97) 10/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 1,1 MODERATE SNV 5 1,1 PASS GCT . . 30704353 MDC1 . GRCh38 chr6 30705336 30705336 + Missense_Mutation SNP G G T rs79216909 7316-2156 BS_H9813KRS G G c.3847C>A p.Pro1283Thr p.P1283T ENST00000376406 10/15 105 81 22 42 39 0 MDC1,missense_variant,p.Pro1283Thr,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 4495/7576 3847/6270 1283/2089 P/T Cca/Aca rs79216909,COSM1235523,COSM1235522 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(0.06) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 0.0457 0.0295 0.0231 0.0635 0.0239 0.0879 0.02678 0.02047 0,1,1 MODERATE SNV 5 0,1,1 PASS GGT . . 0.01363 0.004301 0.007925 0.02249 0.04023 0.005426 0.007551 0.01843 0.03559 30705336 MDC1 . GRCh38 chr6 30705362 30705362 + Missense_Mutation SNP T T A 7316-2156 BS_H9813KRS T T c.3821A>T p.Asn1274Ile p.N1274I ENST00000376406 10/15 85 66 9 47 43 0 MDC1,missense_variant,p.Asn1274Ile,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4469/7576 3821/6270 1274/2089 N/I aAt/aTt COSM3830020,COSM3830019 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(0.3) benign(0.059) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 1,1 MODERATE SNV 5 1,1 PASS ATT . . 30705362 HLA-DPA1 . GRCh38 chr6 33069222 33069222 + Missense_Mutation SNP T T C rs1042190 7316-2156 BS_H9813KRS T T c.425A>G p.Lys142Arg p.K142R ENST00000419277 4/6 167 151 12 31 31 0 HLA-DPA1,missense_variant,p.Lys142Arg,ENST00000419277,NM_033554.3,NM_001242524.1,NM_001242525.1;HLA-DPA1,missense_variant,p.Lys10Arg,ENST00000437811,;HLA-DPA1,missense_variant,p.Lys142Arg,ENST00000453337,;HLA-DPA1,downstream_gene_variant,,ENST00000417724,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000463066,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000476642,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000479107,; C ENSG00000231389 ENST00000419277 Transcript missense_variant 555/1704 425/783 142/260 K/R aAg/aGg rs1042190,COSM3761975 1 -1 HLA-DPA1 HGNC HGNC:4938 protein_coding YES CCDS4764.1 ENSP00000393566 P20036 X5CKE2 UPI000012C03B NM_033554.3,NM_001242524.1,NM_001242525.1 tolerated(0.1) benign(0.153) 4/6 PDB-ENSP_mappings:3lqz.A,PDB-ENSP_mappings:4p4k.A,PDB-ENSP_mappings:4p4k.E,PDB-ENSP_mappings:4p4r.A,PDB-ENSP_mappings:4p4r.C,PDB-ENSP_mappings:4p57.A,PDB-ENSP_mappings:4p57.C,PDB-ENSP_mappings:4p5k.A,PDB-ENSP_mappings:4p5k.D,PDB-ENSP_mappings:4p5m.A,PDB-ENSP_mappings:4p5m.C,PDB-ENSP_mappings:4p5m.E,PDB-ENSP_mappings:4p5m.G,PROSITE_profiles:PS50835,cd05767,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF64,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726 0.4309 0.5772 0.2824 0.6508 0.1889 0.3609 0.4592 0.1762 0,1 MODERATE 1 SNV 0,1 PASS CTT . . 0.2381 0.5057 0.1723 0.183 0.6559 0.1016 0.171 0.204 0.3127 33069222 HLA-DPA1 . GRCh38 chr6 33069745 33069745 + Missense_Mutation SNP T T C rs1042178 7316-2156 BS_H9813KRS T T c.242A>G p.Gln81Arg p.Q81R ENST00000419277 3/6 164 152 11 35 35 0 HLA-DPA1,missense_variant,p.Gln81Arg,ENST00000419277,NM_033554.3,NM_001242524.1,NM_001242525.1;HLA-DPA1,missense_variant,p.Gln81Arg,ENST00000453337,;HLA-DPA1,downstream_gene_variant,,ENST00000417724,;HLA-DPA1,upstream_gene_variant,,ENST00000437811,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000463066,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000476642,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000479107,; C ENSG00000231389 ENST00000419277 Transcript missense_variant 372/1704 242/783 81/260 Q/R cAa/cGa rs1042178,COSM3761977 1 -1 HLA-DPA1 HGNC HGNC:4938 protein_coding YES CCDS4764.1 ENSP00000393566 P20036 X5CKE2 UPI000012C03B NM_033554.3,NM_001242524.1,NM_001242525.1 tolerated(0.76) benign(0) 3/6 PDB-ENSP_mappings:3lqz.A,PDB-ENSP_mappings:4p4k.A,PDB-ENSP_mappings:4p4k.E,PDB-ENSP_mappings:4p4r.A,PDB-ENSP_mappings:4p4r.C,PDB-ENSP_mappings:4p57.A,PDB-ENSP_mappings:4p57.C,PDB-ENSP_mappings:4p5k.A,PDB-ENSP_mappings:4p5k.D,PDB-ENSP_mappings:4p5m.A,PDB-ENSP_mappings:4p5m.C,PDB-ENSP_mappings:4p5m.E,PDB-ENSP_mappings:4p5m.G,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF64,Pfam_domain:PF00993,Gene3D:3.10.320.10,SMART_domains:SM00920,Superfamily_domains:SSF54452 0.4385 0.5809 0.281 0.6796 0.1869 0.3681 0.4672 0.1759 0,1 23805179 MODERATE 1 SNV 0,1 PASS TTG . . 0.2404 0.5119 0.1717 0.1828 0.6826 0.1016 0.1694 0.2053 0.3194 33069745 HLA-DPA1 . GRCh38 chr6 33069802 33069802 + Missense_Mutation SNP A A T rs2308912 7316-2156 BS_H9813KRS A A c.185T>A p.Met62Lys p.M62K ENST00000419277 3/6 138 124 9 56 54 0 HLA-DPA1,missense_variant,p.Met62Lys,ENST00000419277,NM_033554.3,NM_001242524.1,NM_001242525.1;HLA-DPA1,missense_variant,p.Met62Lys,ENST00000453337,;HLA-DPA1,downstream_gene_variant,,ENST00000417724,;HLA-DPA1,upstream_gene_variant,,ENST00000437811,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000463066,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000476642,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000479107,; T ENSG00000231389 ENST00000419277 Transcript missense_variant 315/1704 185/783 62/260 M/K aTg/aAg rs2308912,COSM3761979 1 -1 HLA-DPA1 HGNC HGNC:4938 protein_coding YES CCDS4764.1 ENSP00000393566 P20036 X5CKE2 UPI000012C03B NM_033554.3,NM_001242524.1,NM_001242525.1 tolerated(0.06) benign(0.343) 3/6 PDB-ENSP_mappings:3lqz.A,PDB-ENSP_mappings:4p4k.A,PDB-ENSP_mappings:4p4k.E,PDB-ENSP_mappings:4p4r.A,PDB-ENSP_mappings:4p4r.C,PDB-ENSP_mappings:4p57.A,PDB-ENSP_mappings:4p57.C,PDB-ENSP_mappings:4p5k.A,PDB-ENSP_mappings:4p5k.D,PDB-ENSP_mappings:4p5m.A,PDB-ENSP_mappings:4p5m.C,PDB-ENSP_mappings:4p5m.E,PDB-ENSP_mappings:4p5m.G,Low_complexity_(Seg):seg,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF64,Pfam_domain:PF00993,Gene3D:3.10.320.10,SMART_domains:SM00920,Superfamily_domains:SSF54452 0.4311 0.5794 0.2795 0.6508 0.1869 0.363 0.01755 0.001661 0,1 23441825 MODERATE 1 SNV 0,1 PASS CAT . . 0.2301 0.5012 0.1627 0.1674 0.6536 0.09814 0.1622 0.1944 0.3033 33069802 HLA-DPA1 . GRCh38 chr6 33069803 33069803 + Missense_Mutation SNP T T G rs2308911 7316-2156 BS_H9813KRS T T c.184A>C p.Met62Leu p.M62L ENST00000419277 3/6 142 128 11 56 54 0 HLA-DPA1,missense_variant,p.Met62Leu,ENST00000419277,NM_033554.3,NM_001242524.1,NM_001242525.1;HLA-DPA1,missense_variant,p.Met62Leu,ENST00000453337,;HLA-DPA1,downstream_gene_variant,,ENST00000417724,;HLA-DPA1,upstream_gene_variant,,ENST00000437811,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000463066,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000476642,;HLA-DPA1,non_coding_transcript_exon_variant,,ENST00000479107,; G ENSG00000231389 ENST00000419277 Transcript missense_variant 314/1704 184/783 62/260 M/L Atg/Ctg rs2308911,COSM3761980 1 -1 HLA-DPA1 HGNC HGNC:4938 protein_coding YES CCDS4764.1 ENSP00000393566 P20036 X5CKE2 UPI000012C03B NM_033554.3,NM_001242524.1,NM_001242525.1 tolerated(1) benign(0) 3/6 PDB-ENSP_mappings:3lqz.A,PDB-ENSP_mappings:4p4k.A,PDB-ENSP_mappings:4p4k.E,PDB-ENSP_mappings:4p4r.A,PDB-ENSP_mappings:4p4r.C,PDB-ENSP_mappings:4p57.A,PDB-ENSP_mappings:4p57.C,PDB-ENSP_mappings:4p5k.A,PDB-ENSP_mappings:4p5k.D,PDB-ENSP_mappings:4p5m.A,PDB-ENSP_mappings:4p5m.C,PDB-ENSP_mappings:4p5m.E,PDB-ENSP_mappings:4p5m.G,Low_complexity_(Seg):seg,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF64,Pfam_domain:PF00993,Gene3D:3.10.320.10,SMART_domains:SM00920,Superfamily_domains:SSF54452 0.4311 0.5794 0.2795 0.6508 0.1869 0.363 0.0149 0.001292 0,1 23441825 MODERATE 1 SNV 0,1 PASS ATC . . 0.23 0.5011 0.1627 0.1668 0.6537 0.09803 0.1623 0.1943 0.3031 33069803 BYSL . GRCh38 chr6 41921642 41921642 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.80A>C p.Asn27Thr p.N27T ENST00000230340 1/7 128 113 10 22 22 0 BYSL,missense_variant,p.Asn27Thr,ENST00000230340,NM_004053.3;MED20,upstream_gene_variant,,ENST00000265350,NM_001305455.1,NM_004275.4;MED20,upstream_gene_variant,,ENST00000394251,;MED20,upstream_gene_variant,,ENST00000409060,;MED20,upstream_gene_variant,,ENST00000409312,NM_001305457.1;MED20,upstream_gene_variant,,ENST00000434077,;RF00019,upstream_gene_variant,,ENST00000384641,;MED20,upstream_gene_variant,,ENST00000467535,NM_001305456.1;MED20,upstream_gene_variant,,ENST00000482361,;BYSL,missense_variant,p.Asn27Thr,ENST00000489290,;BYSL,non_coding_transcript_exon_variant,,ENST00000475702,;BYSL,non_coding_transcript_exon_variant,,ENST00000494032,;,regulatory_region_variant,,ENSR00000196897,; C ENSG00000112578 ENST00000230340 Transcript missense_variant 455/2029 80/1314 27/437 N/T aAt/aCt 1 1 BYSL HGNC HGNC:1157 protein_coding YES CCDS34450.1 ENSP00000230340 Q13895 UPI0000034CC4 NM_004053.3 tolerated(0.38) benign(0.006) 1/7 mobidb-lite,hmmpanther:PTHR12821 MODERATE 1 SNV 1 PASS AAT . . 41921642 BYSL . GRCh38 chr6 41931488 41931488 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.797A>C p.Lys266Thr p.K266T ENST00000230340 5/7 119 105 8 34 34 0 BYSL,missense_variant,p.Lys266Thr,ENST00000230340,NM_004053.3;CCND3,downstream_gene_variant,,ENST00000372987,NM_001287427.1;CCND3,downstream_gene_variant,,ENST00000372988,NM_001136017.3;CCND3,downstream_gene_variant,,ENST00000372991,NM_001760.4;CCND3,downstream_gene_variant,,ENST00000414200,NM_001136125.2;CCND3,downstream_gene_variant,,ENST00000415497,NM_001136126.2;CCND3,downstream_gene_variant,,ENST00000510503,;CCND3,downstream_gene_variant,,ENST00000511642,;CCND3,downstream_gene_variant,,ENST00000512426,;CCND3,downstream_gene_variant,,ENST00000616010,NM_001287434.1;CCND3,downstream_gene_variant,,ENST00000511686,;CCND3,downstream_gene_variant,,ENST00000513956,;BYSL,missense_variant,p.Lys157Thr,ENST00000372996,;BYSL,3_prime_UTR_variant,,ENST00000489290,;BYSL,downstream_gene_variant,,ENST00000475702,;BYSL,downstream_gene_variant,,ENST00000494032,; C ENSG00000112578 ENST00000230340 Transcript missense_variant 1172/2029 797/1314 266/437 K/T aAa/aCa 1 1 BYSL HGNC HGNC:1157 protein_coding YES CCDS34450.1 ENSP00000230340 Q13895 UPI0000034CC4 NM_004053.3 deleterious(0) probably_damaging(0.995) 5/7 hmmpanther:PTHR12821,Pfam_domain:PF05291 MODERATE 1 SNV 1 PASS AAA . . 41931488 CENPQ . GRCh38 chr6 49472092 49472092 + Nonsense_Mutation SNP G G T 7316-2156 BS_H9813KRS G G c.187G>T p.Gly63Ter p.G63* ENST00000335783 4/9 110 102 6 46 45 0 CENPQ,stop_gained,p.Gly63Ter,ENST00000335783,NM_018132.3; T ENSG00000031691 ENST00000335783 Transcript stop_gained 281/1733 187/807 63/268 G/* Gga/Tga COSM4155246 1 1 CENPQ HGNC HGNC:21347 protein_coding YES CCDS4925.1 ENSP00000337289 Q7L2Z9 UPI000020DE7B NM_018132.3 4/9 mobidb-lite,hmmpanther:PTHR31345 1 HIGH 1 SNV 1 1 PASS CGG . . 49472092 FKBP1C . GRCh38 chr6 63211593 63211593 + Missense_Mutation SNP T T G rs778891458 7316-2156 BS_H9813KRS T T c.37T>G p.Trp13Gly p.W13G ENST00000370659 1/1 118 105 8 37 36 0 FKBP1C,missense_variant,p.Trp13Gly,ENST00000370659,; G ENSG00000198225 ENST00000370659 Transcript missense_variant 148/1579 37/327 13/108 W/G Tgg/Ggg rs778891458,COSM5620815,COSM5620814 1 1 FKBP1C HGNC HGNC:21376 protein_coding YES ENSP00000359693 Q5VVH2 UPI00001AF3DB tolerated(1) benign(0) 1/1 hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF301,Gene3D:3.10.50.40,Superfamily_domains:SSF54534 0,1,1 MODERATE 1 SNV 0,1,1 PASS CTG . . 1.655e-05 0.0001343 1.835e-05 63211593 FKBP1C . GRCh38 chr6 63211750 63211750 + Missense_Mutation SNP T T C rs767763148 7316-2156 BS_H9813KRS T T c.194T>C p.Val65Ala p.V65A ENST00000370659 1/1 119 95 21 38 37 0 FKBP1C,missense_variant,p.Val65Ala,ENST00000370659,; C ENSG00000198225 ENST00000370659 Transcript missense_variant 305/1579 194/327 65/108 V/A gTc/gCc rs767763148,COSM597357,COSM597356 1 1 FKBP1C HGNC HGNC:21376 protein_coding YES ENSP00000359693 Q5VVH2 UPI00001AF3DB tolerated(1) benign(0) 1/1 PROSITE_profiles:PS50059,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF301,Gene3D:3.10.50.40,Pfam_domain:PF00254,Superfamily_domains:SSF54534 0,1,1 MODERATE 1 SNV 0,1,1 PASS GTC . . 2.032e-05 0.0001307 1.794e-05 3.249e-05 63211750 CGAS . GRCh38 chr6 73445623 73445623 + Missense_Mutation SNP G G T rs610913 7316-2156 BS_H9813KRS G G c.782C>A p.Pro261His p.P261H ENST00000370315 2/5 86 79 6 37 37 0 CGAS,missense_variant,p.Pro261His,ENST00000370315,NM_138441.2;CGAS,missense_variant,p.Pro261His,ENST00000370318,;CGAS,non_coding_transcript_exon_variant,,ENST00000459924,; T ENSG00000164430 ENST00000370315 Transcript missense_variant 877/3182 782/1569 261/522 P/H cCt/cAt rs610913,COSM4004120 1 -1 CGAS HGNC HGNC:21367 protein_coding YES CCDS4978.1 ENSP00000359339 Q8N884 UPI00001AEC2D NM_138441.2 tolerated(0.07) probably_damaging(0.988) 2/5 Pfam_domain:PF03281,hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF35,SMART_domains:SM01265 0.3691 0.389 0.502 0.6441 0.6196 0.4016 0.6213 0,1 MODERATE 1 SNV 1 1,1 PASS AGG . . 0.5512 0.3951 0.3359 0.555 0.5037 0.5774 0.618 0.5478 0.6285 73445623 CGAS . GRCh38 chr6 73451727 73451727 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.455T>G p.Ile152Ser p.I152S ENST00000370315 1/5 117 101 15 44 43 0 CGAS,missense_variant,p.Ile152Ser,ENST00000370315,NM_138441.2;CGAS,missense_variant,p.Ile152Ser,ENST00000370318,;,regulatory_region_variant,,ENSR00000198842,; C ENSG00000164430 ENST00000370315 Transcript missense_variant 550/3182 455/1569 152/522 I/S aTt/aGt 1 -1 CGAS HGNC HGNC:21367 protein_coding YES CCDS4978.1 ENSP00000359339 Q8N884 UPI00001AEC2D NM_138441.2 tolerated(0.8) benign(0) 1/5 hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF35 MODERATE 1 SNV 1 PASS AAT . . 73451727 EEF1A1 . GRCh38 chr6 73518849 73518849 + Splice_Site SNP C C G 7316-2156 BS_H9813KRS C C c.622-1G>C p.X208_splice ENST00000316292 122 106 11 36 35 0 EEF1A1,splice_acceptor_variant,,ENST00000615060,;EEF1A1,splice_acceptor_variant,,ENST00000309268,;EEF1A1,splice_acceptor_variant,,ENST00000316292,NM_001402.5;EEF1A1,splice_acceptor_variant,,ENST00000331523,;EEF1A1,splice_acceptor_variant,,ENST00000610520,;EEF1A1,downstream_gene_variant,,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;AL121972.1,upstream_gene_variant,,ENST00000429386,;AL121972.1,upstream_gene_variant,,ENST00000431108,;EEF1A1,intron_variant,,ENST00000491404,;EEF1A1,splice_acceptor_variant,,ENST00000490569,;EEF1A1,splice_acceptor_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000488500,;,regulatory_region_variant,,ENSR00000321439,; G ENSG00000156508 ENST00000316292 Transcript splice_acceptor_variant COSM3734078 1 -1 EEF1A1 HGNC HGNC:3189 protein_coding YES CCDS4980.1 ENSP00000339063 P68104 Q6IPS9 UPI00000012CA NM_001402.5 3/6 1 HIGH 1 SNV 1 1 PASS TCT . . 73518849 PM20D2 . GRCh38 chr6 89146605 89146605 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.461T>G p.Val154Gly p.V154G ENST00000275072 1/7 93 81 7 29 29 0 PM20D2,missense_variant,p.Val154Gly,ENST00000275072,NM_001010853.2;,regulatory_region_variant,,ENSR00000199871,; G ENSG00000146281 ENST00000275072 Transcript missense_variant 556/4708 461/1311 154/436 V/G gTg/gGg 1 1 PM20D2 HGNC HGNC:21408 protein_coding YES CCDS34499.1 ENSP00000275072 Q8IYS1 UPI0000160C07 NM_001010853.2 tolerated(0.27) benign(0.013) 1/7 Gene3D:3.40.630.10,Pfam_domain:PF01546,PIRSF_domain:PIRSF037226,hmmpanther:PTHR30575,hmmpanther:PTHR30575:SF0,Superfamily_domains:SSF53187,cd05672,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 89146605 MDN1 . GRCh38 chr6 89692763 89692763 + Missense_Mutation SNP G G A rs9294445 7316-2156 BS_H9813KRS G G c.10267C>T p.His3423Tyr p.H3423Y ENST00000369393 63/102 104 95 7 31 30 0 MDN1,missense_variant,p.His3423Tyr,ENST00000369393,NM_014611.2;MDN1,missense_variant,p.His3423Tyr,ENST00000629399,; A ENSG00000112159 ENST00000369393 Transcript missense_variant 10383/18413 10267/16791 3423/5596 H/Y Cac/Tac rs9294445,COSM3762221 1 -1 MDN1 HGNC HGNC:18302 protein_coding YES CCDS5024.1 ENSP00000358400 Q9NU22 UPI000013C4B8 NM_014611.2 tolerated(0.69) benign(0) 63/102 PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF72 0.6044 0.5998 0.6988 0.9077 0.4602 0.3793 0.6024 0.467 0,1 MODERATE 1 SNV 1 0,1 PASS TGG . . 0.5357 0.6061 0.7089 0.5223 0.8941 0.4776 0.4731 0.5325 0.3842 89692763 GPR6 . GRCh38 chr6 109979209 109979209 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.142A>C p.Thr48Pro p.T48P ENST00000414000 3/3 105 91 10 24 24 0 GPR6,missense_variant,p.Thr48Pro,ENST00000414000,NM_001286099.1;GPR6,missense_variant,p.Thr33Pro,ENST00000275169,NM_005284.4;,regulatory_region_variant,,ENSR00000322481,; C ENSG00000146360 ENST00000414000 Transcript missense_variant 436/1945 142/1134 48/377 T/P Acg/Ccg 1 1 GPR6 HGNC HGNC:4515 protein_coding YES CCDS69172.1 ENSP00000406986 P46095 UPI0001AE72E0 NM_001286099.1 tolerated_low_confidence(0.21) benign(0) 3/3 hmmpanther:PTHR22750:SF19,hmmpanther:PTHR22750,Prints_domain:PR00649 MODERATE 1 SNV 2 PASS CAC . . 109979209 TSPYL1 . GRCh38 chr6 116279647 116279647 + Missense_Mutation SNP G G A rs3828743 7316-2156 BS_H9813KRS G G c.184C>T p.Pro62Ser p.P62S ENST00000368608 1/1 112 103 6 32 32 0 TSPYL1,missense_variant,p.Pro62Ser,ENST00000368608,NM_003309.3;DSE,intron_variant,,ENST00000430252,;DSE,intron_variant,,ENST00000647244,;DSE,upstream_gene_variant,,ENST00000452085,NM_001080976.2;DSE,upstream_gene_variant,,ENST00000643175,;DSE,upstream_gene_variant,,ENST00000449314,;DSE,upstream_gene_variant,,ENST00000453463,;DSE,upstream_gene_variant,,ENST00000642434,;DSE,upstream_gene_variant,,ENST00000645959,;DSE,non_coding_transcript_exon_variant,,ENST00000607094,;,regulatory_region_variant,,ENSR00000322656,; A ENSG00000189241 ENST00000368608 Transcript missense_variant 257/3326 184/1314 62/437 P/S Cca/Tca rs3828743,COSM4160139 1 -1 TSPYL1 HGNC HGNC:12382 protein_coding YES CCDS34518.1 ENSP00000357597 Q9H0U9 UPI000006EE16 NM_003309.3 tolerated(0.2) benign(0.003) 1/1 Low_complexity_(Seg):seg,mobidb-lite 0.3498 0.0643 0.3458 0.6319 0.2614 0.5389 0.0785 0.2465 0,1 19463995 MODERATE 1 SNV 0,1 1 PASS GGA . . 0.3249 0.07229 0.3847 0.237 0.6625 0.243 0.2612 0.2927 0.495 116279647 CTGF . GRCh38 chr6 131950162 131950162 + Splice_Site SNP T T C rs1385747051 7316-2156 BS_H9813KRS T T c.542-2A>G p.X181_splice ENST00000367976 124 106 16 32 31 0 CTGF,splice_acceptor_variant,,ENST00000367976,NM_001901.2;AL133346.1,upstream_gene_variant,,ENST00000435287,;,regulatory_region_variant,,ENSR00000202899,; C ENSG00000118523 ENST00000367976 Transcript splice_acceptor_variant rs1385747051 1 -1 CTGF HGNC HGNC:2500 protein_coding YES CCDS5151.1 ENSP00000356954 P29279 UPI000013CA11 NM_001901.2 3/4 HIGH 1 SNV 1 1 PASS CTG . . 131950162 VNN3 . GRCh38 chr6 132726714 132726714 + Splice_Region SNP T T G novel 7316-2156 BS_H9813KRS T T c.*3+8A>C ENST00000367927 112 101 10 41 41 0 VNN3,splice_region_variant,,ENST00000367927,;VNN3,splice_region_variant,,ENST00000392393,;VNN3,splice_region_variant,,ENST00000414302,;VNN3,splice_region_variant,,ENST00000425515,;VNN3,splice_region_variant,,ENST00000450865,;VNN3,splice_region_variant,,ENST00000519686,;VNN3,intron_variant,,ENST00000275223,;VNN3,intron_variant,,ENST00000417437,;VNN3,intron_variant,,ENST00000423615,NM_001291702.1,NM_001291703.1;VNN3,intron_variant,,ENST00000427187,;VNN3,intron_variant,,ENST00000509351,;VNN3,downstream_gene_variant,,ENST00000544102,;VNN3,downstream_gene_variant,,ENST00000580813,; G ENSG00000093134 ENST00000367927 Transcript splice_region_variant,intron_variant 1 -1 VNN3 HGNC HGNC:16431 protein_coding YES ENSP00000438024 Q9NY84 UPI0000072390 4/6 LOW 1 SNV 1 PASS GTG . . 132726714 SAMD5 . GRCh38 chr6 147509202 147509202 + Missense_Mutation SNP A A C rs535026861 7316-2156 BS_H9813KRS A A c.274A>C p.Thr92Pro p.T92P ENST00000367474 1/2 79 66 10 39 38 1 SAMD5,missense_variant,p.Thr92Pro,ENST00000367474,NM_001030060.2;SAMD5,upstream_gene_variant,,ENST00000566741,;,regulatory_region_variant,,ENSR00000323616,; C ENSG00000203727 ENST00000367474 Transcript missense_variant 276/6089 274/522 92/173 T/P Acc/Ccc rs535026861 1 1 SAMD5 HGNC HGNC:21180 protein_coding YES CCDS34548.1 ENSP00000356444 Q5TGI4 UPI000022CCF8 NM_001030060.2 tolerated(0.31) benign(0) 1/2 mobidb-lite 0.0164 0.031 0.0101 0.002 0.0139 0.0184 MODERATE 1 SNV 2 PASS CAC . . 0.0003088 0.001881 147509202 TULP4 . GRCh38 chr6 158493570 158493570 + Splice_Region SNP C C A novel 7316-2156 BS_H9813KRS C C c.1632-3C>A ENST00000367097 100 89 7 26 26 0 TULP4,splice_region_variant,,ENST00000367094,NM_001007466.2;TULP4,splice_region_variant,,ENST00000367097,NM_020245.4;TULP4,splice_region_variant,,ENST00000613390,; A ENSG00000130338 ENST00000367097 Transcript splice_region_variant,intron_variant 1 1 TULP4 HGNC HGNC:15530 protein_coding YES CCDS34561.1 ENSP00000356064 Q9NRJ4 UPI000013CD76 NM_020245.4 9/13 LOW 1 SNV 1 PASS CCA . . 158493570 PRR18 . GRCh38 chr6 166307481 166307481 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.662T>G p.Val221Gly p.V221G ENST00000322583 1/1 91 69 14 37 36 0 PRR18,missense_variant,p.Val221Gly,ENST00000322583,NM_175922.3;PRR18,downstream_gene_variant,,ENST00000529616,; C ENSG00000176381 ENST00000322583 Transcript missense_variant 903/3084 662/888 221/295 V/G gTt/gGt 1 -1 PRR18 HGNC HGNC:28574 protein_coding YES CCDS5291.1 ENSP00000319590 Q8N4B5 UPI0000140E82 NM_175922.3 tolerated_low_confidence(0.36) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR10994:SF127,hmmpanther:PTHR10994,Pfam_domain:PF15671 MODERATE 1 SNV PASS AAC . . 166307481 EIF3B . GRCh38 chr7 2355312 2355312 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.391A>C p.Asn131His p.N131H ENST00000360876 1/19 126 109 12 54 53 0 EIF3B,missense_variant,p.Asn131His,ENST00000360876,NM_001037283.1;EIF3B,missense_variant,p.Asn131His,ENST00000397011,NM_003751.3;EIF3B,missense_variant,p.Asn92His,ENST00000413917,;EIF3B,5_prime_UTR_variant,,ENST00000431643,;SNX8,upstream_gene_variant,,ENST00000435336,;SNX8,upstream_gene_variant,,ENST00000447136,;,regulatory_region_variant,,ENSR00000207760,; C ENSG00000106263 ENST00000360876 Transcript missense_variant 447/3055 391/2445 131/814 N/H Aac/Cac 1 1 EIF3B HGNC HGNC:3280 protein_coding YES CCDS5332.1 ENSP00000354125 P55884 A0A024R821 UPI000013F934 NM_001037283.1 tolerated_low_confidence(0.21) benign(0.018) 1/19 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14068,PIRSF_domain:PIRSF036424 MODERATE 1 SNV 1 PASS AAA . . 2355312 RADIL . GRCh38 chr7 4803543 4803543 + Splice_Region SNP T T G 7316-2156 BS_H9813KRS T T c.2499+3A>C ENST00000399583 99 70 13 53 51 0 RADIL,splice_region_variant,,ENST00000399583,NM_018059.4;RADIL,splice_region_variant,,ENST00000445392,;RADIL,splice_region_variant,,ENST00000472999,;RADIL,splice_region_variant,,ENST00000473130,;RADIL,downstream_gene_variant,,ENST00000469399,; G ENSG00000157927 ENST00000399583 Transcript splice_region_variant,intron_variant COSM5662312 1 -1 RADIL HGNC HGNC:22226 protein_coding YES CCDS43544.1 ENSP00000382492 Q96JH8 UPI0000E0A787 NM_018059.4 11/14 1 LOW 1 SNV 5 1 PASS GTA . . 4803543 PAPOLB . GRCh38 chr7 4860711 4860711 + Missense_Mutation SNP C C T rs1324909602 7316-2156 BS_H9813KRS C C c.1100G>A p.Ser367Asn p.S367N ENST00000404991 1/1 118 109 6 49 49 0 PAPOLB,missense_variant,p.Ser367Asn,ENST00000404991,NM_020144.4;RADIL,intron_variant,,ENST00000399583,NM_018059.4;RADIL,intron_variant,,ENST00000445392,;RPL22P16,downstream_gene_variant,,ENST00000454916,; T ENSG00000218823 ENST00000404991 Transcript missense_variant 1284/4262 1100/1914 367/637 S/N aGc/aAc rs1324909602,COSM1597026,COSM1597025 1 -1 PAPOLB HGNC HGNC:15970 protein_coding YES CCDS78202.1 ENSP00000384700 Q9NRJ5 A4D1Z6 UPI00005CE292 NM_020144.4 tolerated(1) benign(0.003) 1/1 Gene3D:3.30.70.590,Pfam_domain:PF04926,PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Superfamily_domains:SSF55003 0,1,1 MODERATE SNV 0,1,1 PASS GCT . . 4860711 ACTB . GRCh38 chr7 5528003 5528003 + Splice_Site SNP C C T rs878948364 7316-2156 BS_H9813KRS C C c.984+1G>A p.X328_splice ENST00000331789 151 104 14 32 32 0 ACTB,splice_donor_variant,,ENST00000331789,;ACTB,splice_donor_variant,,ENST00000464611,;ACTB,splice_donor_variant,,ENST00000493945,;ACTB,splice_donor_variant,,ENST00000646664,NM_001101.3;ACTB,downstream_gene_variant,,ENST00000414620,;ACTB,downstream_gene_variant,,ENST00000417101,;ACTB,downstream_gene_variant,,ENST00000432588,;ACTB,downstream_gene_variant,,ENST00000443528,;ACTB,downstream_gene_variant,,ENST00000642480,;ACTB,downstream_gene_variant,,ENST00000645576,;ACTB,downstream_gene_variant,,ENST00000647275,;ACTB,downstream_gene_variant,,ENST00000473257,;ACTB,downstream_gene_variant,,ENST00000484841,;ACTB,splice_donor_variant,,ENST00000425660,;ACTB,splice_donor_variant,,ENST00000462494,;ACTB,downstream_gene_variant,,ENST00000477812,;ACTB,downstream_gene_variant,,ENST00000480301,;ACTB,downstream_gene_variant,,ENST00000645025,;,regulatory_region_variant,,ENSR00000208099,; T ENSG00000075624 ENST00000331789 Transcript splice_donor_variant rs878948364 1 -1 ACTB HGNC HGNC:132 protein_coding YES CCDS5341.1 ENSP00000349960 P60709 Q1KLZ0 UPI000000082D 5/5 HIGH 1 SNV 1 1 PASS ACC . . 5528003 ACTB . GRCh38 chr7 5528187 5528187 + Splice_Site SNP T T C rs879226771 7316-2156 BS_H9813KRS T T c.803-2A>G p.X268_splice ENST00000331789 158 100 17 36 36 0 ACTB,splice_acceptor_variant,,ENST00000331789,;ACTB,splice_acceptor_variant,,ENST00000493945,;ACTB,splice_acceptor_variant,,ENST00000645576,;ACTB,splice_acceptor_variant,,ENST00000646664,NM_001101.3;ACTB,splice_acceptor_variant,,ENST00000647275,;ACTB,downstream_gene_variant,,ENST00000414620,;ACTB,downstream_gene_variant,,ENST00000417101,;ACTB,downstream_gene_variant,,ENST00000432588,;ACTB,downstream_gene_variant,,ENST00000443528,;ACTB,upstream_gene_variant,,ENST00000464611,;ACTB,downstream_gene_variant,,ENST00000642480,;ACTB,splice_acceptor_variant,,ENST00000473257,;ACTB,downstream_gene_variant,,ENST00000484841,;ACTB,splice_acceptor_variant,,ENST00000425660,;ACTB,splice_acceptor_variant,,ENST00000462494,;ACTB,downstream_gene_variant,,ENST00000477812,;ACTB,downstream_gene_variant,,ENST00000480301,;ACTB,downstream_gene_variant,,ENST00000645025,;,regulatory_region_variant,,ENSR00000208099,; C ENSG00000075624 ENST00000331789 Transcript splice_acceptor_variant rs879226771 1 -1 ACTB HGNC HGNC:132 protein_coding YES CCDS5341.1 ENSP00000349960 P60709 Q1KLZ0 UPI000000082D 4/5 HIGH 1 SNV 1 1 PASS CTG . . 5528187 ACTB . GRCh38 chr7 5528279 5528279 + Splice_Site SNP A A G rs879102499 7316-2156 BS_H9813KRS A A c.802+2T>C p.X268_splice ENST00000331789 119 111 7 46 45 0 ACTB,splice_donor_variant,,ENST00000331789,;ACTB,splice_donor_variant,,ENST00000493945,;ACTB,splice_donor_variant,,ENST00000645576,;ACTB,splice_donor_variant,,ENST00000646664,NM_001101.3;ACTB,splice_donor_variant,,ENST00000647275,;ACTB,downstream_gene_variant,,ENST00000414620,;ACTB,downstream_gene_variant,,ENST00000417101,;ACTB,downstream_gene_variant,,ENST00000432588,;ACTB,downstream_gene_variant,,ENST00000443528,;ACTB,upstream_gene_variant,,ENST00000464611,;ACTB,downstream_gene_variant,,ENST00000642480,;ACTB,splice_donor_variant,,ENST00000473257,;ACTB,downstream_gene_variant,,ENST00000484841,;ACTB,splice_donor_variant,,ENST00000425660,;ACTB,splice_donor_variant,,ENST00000462494,;ACTB,downstream_gene_variant,,ENST00000477812,;ACTB,downstream_gene_variant,,ENST00000480301,;ACTB,downstream_gene_variant,,ENST00000645025,;,regulatory_region_variant,,ENSR00000208099,; G ENSG00000075624 ENST00000331789 Transcript splice_donor_variant rs879102499 1 -1 ACTB HGNC HGNC:132 protein_coding YES CCDS5341.1 ENSP00000349960 P60709 Q1KLZ0 UPI000000082D 4/5 HIGH 1 SNV 1 1 PASS CAC . . 5528279 ACTB . GRCh38 chr7 5529533 5529533 + Splice_Site SNP A A C rs878940851 7316-2156 BS_H9813KRS A A c.123+2T>G p.X41_splice ENST00000331789 121 101 13 49 48 0 ACTB,splice_donor_variant,,ENST00000331789,;ACTB,splice_donor_variant,,ENST00000414620,;ACTB,splice_donor_variant,,ENST00000417101,;ACTB,splice_donor_variant,,ENST00000432588,;ACTB,splice_donor_variant,,ENST00000443528,;ACTB,splice_donor_variant,,ENST00000493945,;ACTB,splice_donor_variant,,ENST00000642480,;ACTB,splice_donor_variant,,ENST00000645576,;ACTB,splice_donor_variant,,ENST00000646664,NM_001101.3;ACTB,intron_variant,,ENST00000647275,;ACTB,upstream_gene_variant,,ENST00000464611,;ACTB,splice_donor_variant,,ENST00000484841,;ACTB,intron_variant,,ENST00000473257,;ACTB,splice_donor_variant,,ENST00000425660,;ACTB,splice_donor_variant,,ENST00000462494,;ACTB,splice_donor_variant,,ENST00000645025,;ACTB,non_coding_transcript_exon_variant,,ENST00000477812,;ACTB,non_coding_transcript_exon_variant,,ENST00000480301,;,regulatory_region_variant,,ENSR00000208099,; C ENSG00000075624 ENST00000331789 Transcript splice_donor_variant rs878940851 1 -1 ACTB HGNC HGNC:132 protein_coding YES CCDS5341.1 ENSP00000349960 P60709 Q1KLZ0 UPI000000082D 2/5 HIGH 1 SNV 1 1 PASS TAC . . 5529533 EVX1 . GRCh38 chr7 27243152 27243152 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.122A>C p.Lys41Thr p.K41T ENST00000496902 1/3 99 91 8 40 38 0 EVX1,missense_variant,p.Lys41Thr,ENST00000496902,NM_001989.4,NM_001304519.1,NM_001304520.1;EVX1,missense_variant,p.Lys41Thr,ENST00000222761,;EVX1,upstream_gene_variant,,ENST00000580535,;AC004080.1,upstream_gene_variant,,ENST00000523608,;EVX1-AS,intron_variant,,ENST00000517726,;EVX1-AS,intron_variant,,ENST00000519218,;EVX1-AS,upstream_gene_variant,,ENST00000519050,;EVX1,upstream_gene_variant,,ENST00000518886,;,regulatory_region_variant,,ENSR00000209871,; C ENSG00000106038 ENST00000496902 Transcript missense_variant 453/2955 122/1224 41/407 K/T aAa/aCa 1 1 EVX1 HGNC HGNC:3506 protein_coding YES CCDS5413.1 ENSP00000419266 P49640 UPI000012A2AD NM_001989.4,NM_001304519.1,NM_001304520.1 deleterious(0.03) benign(0.276) 1/3 hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF246,mobidb-lite MODERATE 1 SNV 1 PASS AAA . . 27243152 WIPF3 . GRCh38 chr7 29884273 29884273 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.779T>G p.Ile260Ser p.I260S ENST00000242140 5/9 37 29 6 17 17 0 WIPF3,missense_variant,p.Ile260Ser,ENST00000242140,NM_001080529.2;WIPF3,missense_variant,p.Ile260Ser,ENST00000409290,;WIPF3,missense_variant,p.Ile260Ser,ENST00000409123,;,regulatory_region_variant,,ENSR00000210284,;,TF_binding_site_variant,,MA0162.2,; G ENSG00000122574 ENST00000242140 Transcript missense_variant 961/4184 779/1452 260/483 I/S aTc/aGc 1 1 WIPF3 HGNC HGNC:22004 protein_coding YES CCDS56472.1 ENSP00000242140 A6NGB9 UPI00006C0B79 NM_001080529.2 deleterious_low_confidence(0) benign(0.012) 5/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF31 MODERATE 1 SNV 5 PASS ATC . . 29884273 CDK13 . GRCh38 chr7 39951161 39951161 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.520A>C p.Thr174Pro p.T174P ENST00000181839 1/14 110 93 13 48 48 0 CDK13,missense_variant,p.Thr174Pro,ENST00000181839,NM_003718.4;CDK13,missense_variant,p.Thr174Pro,ENST00000340829,NM_031267.3;CDK13,missense_variant,p.Thr49Pro,ENST00000643868,;CDK13,5_prime_UTR_variant,,ENST00000613626,;CDK13,upstream_gene_variant,,ENST00000611390,;CDK13,upstream_gene_variant,,ENST00000643859,;CDK13,upstream_gene_variant,,ENST00000646039,;AC072061.1,upstream_gene_variant,,ENST00000569710,;,regulatory_region_variant,,ENSR00000211251,; C ENSG00000065883 ENST00000181839 Transcript missense_variant 1516/10135 520/4539 174/1512 T/P Acg/Ccg 1 1 CDK13 HGNC HGNC:1733 protein_coding YES CCDS5461.1 ENSP00000181839 Q14004 A0A024RA85 UPI000013C5E3 NM_003718.4 tolerated_low_confidence(0.18) benign(0.021) 1/14 hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 39951161 MRPS24 . GRCh38 chr7 43869378 43869378 + Splice_Site SNP T T C novel 7316-2156 BS_H9813KRS T T c.40-2A>G p.X14_splice ENST00000317534 92 78 6 36 34 0 MRPS24,splice_acceptor_variant,,ENST00000317534,NM_032014.2;URGCP-MRPS24,splice_acceptor_variant,,ENST00000603700,NM_001204871.1;MRPS24,5_prime_UTR_variant,,ENST00000418740,;MRPS24,splice_acceptor_variant,,ENST00000467084,;MRPS24,non_coding_transcript_exon_variant,,ENST00000414932,;MRPS24,upstream_gene_variant,,ENST00000483330,;,regulatory_region_variant,,ENSR00000211752,; C ENSG00000062582 ENST00000317534 Transcript splice_acceptor_variant 1 -1 MRPS24 HGNC HGNC:14510 protein_coding YES CCDS5473.1 ENSP00000318158 Q96EL2 UPI000006F034 NM_032014.2 1/3 HIGH 1 SNV 1 PASS CTG . . 43869378 SPDYE1 . GRCh38 chr7 44007335 44007335 + Missense_Mutation SNP G G A rs200388629 7316-2156 BS_H9813KRS G G c.700G>A p.Gly234Arg p.G234R ENST00000258704 5/7 107 90 14 47 47 0 SPDYE1,missense_variant,p.Gly234Arg,ENST00000258704,NM_175064.2;AC004951.1,splice_region_variant,,ENST00000447643,;POLR2J4,intron_variant,,ENST00000422304,;POLR2J4,intron_variant,,ENST00000427076,;AC004951.4,intron_variant,,ENST00000454572,; A ENSG00000136206 ENST00000258704 Transcript missense_variant 837/2649 700/1011 234/336 G/R Ggg/Agg rs200388629,COSM328576 1 1 SPDYE1 HGNC HGNC:16408 protein_coding YES CCDS5475.1 ENSP00000258704 Q8NFV5 UPI000013CFF7 NM_175064.2 deleterious(0.05) benign(0.098) 5/7 Pfam_domain:PF11357,hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF15 0,1 MODERATE 1 SNV 1 0,1 PASS TGG . . 0.01525 0.006014 0.06102 0.03249 0.005968 0.002914 0.006801 0.01783 0.02354 44007335 AEBP1 . GRCh38 chr7 44104666 44104666 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1A>C p.Met1? p.M1? ENST00000223357 1/21 127 110 14 44 43 1 AEBP1,start_lost,p.Met1?,ENST00000223357,NM_001129.4;AEBP1,upstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000453052,;,regulatory_region_variant,,ENSR00000211784,; C ENSG00000106624 ENST00000223357 Transcript start_lost 306/4081 1/3477 1/1158 M/L Atg/Ctg 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 deleterious_low_confidence(0) benign(0.019) 1/21 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS CAT . . 44104666 AEBP1 . GRCh38 chr7 44104667 44104667 + Translation_Start_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2T>G p.Met1? p.M1? ENST00000223357 1/21 127 109 16 44 44 0 AEBP1,start_lost,p.Met1?,ENST00000223357,NM_001129.4;AEBP1,upstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000453052,;,regulatory_region_variant,,ENSR00000211784,; G ENSG00000106624 ENST00000223357 Transcript start_lost 307/4081 2/3477 1/1158 M/R aTg/aGg 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 deleterious_low_confidence(0) benign(0.284) 1/21 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 44104667 AEBP1 . GRCh38 chr7 44107701 44107701 + Splice_Site SNP G G T rs111934840 7316-2156 BS_H9813KRS G G c.739+1G>T p.X247_splice ENST00000223357 113 100 12 31 31 0 AEBP1,splice_donor_variant,,ENST00000223357,NM_001129.4;AEBP1,intron_variant,,ENST00000455443,;AEBP1,downstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000450684,;MIR4649,upstream_gene_variant,,ENST00000582839,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;AEBP1,upstream_gene_variant,,ENST00000434445,;AEBP1,upstream_gene_variant,,ENST00000453052,; T ENSG00000106624 ENST00000223357 Transcript splice_donor_variant rs111934840,COSM3768382 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 4/20 0,1 HIGH 1 SNV 1 0,1 PASS TGT . . 44107701 AUTS2 . GRCh38 chr7 70766332 70766332 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1687A>C p.Met563Leu p.M563L ENST00000342771 9/19 123 104 9 26 26 0 AUTS2,missense_variant,p.Met562Leu,ENST00000644939,;AUTS2,missense_variant,p.Met563Leu,ENST00000342771,NM_015570.3;AUTS2,missense_variant,p.Met563Leu,ENST00000406775,NM_001127231.2;AUTS2,missense_variant,p.Met105Leu,ENST00000644506,;AUTS2,missense_variant,p.Met315Leu,ENST00000611706,;AUTS2,missense_variant,p.Met315Leu,ENST00000615871,;AUTS2,missense_variant,p.Met105Leu,ENST00000644359,;AUTS2,missense_variant,p.Met178Leu,ENST00000647140,;AUTS2,missense_variant,p.Met8Leu,ENST00000443672,;AUTS2,missense_variant,p.Met34Leu,ENST00000644949,;AUTS2,downstream_gene_variant,,ENST00000416482,;AUTS2,upstream_gene_variant,,ENST00000483297,;AUTS2,splice_region_variant,,ENST00000481994,; C ENSG00000158321 ENST00000342771 Transcript missense_variant,splice_region_variant 2008/6600 1687/3780 563/1259 M/L Atg/Ctg 1 1 AUTS2 HGNC HGNC:14262 protein_coding YES CCDS5539.1 ENSP00000344087 Q8WXX7 UPI0000126665 NM_015570.3 tolerated(0.36) benign(0.036) 9/19 hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF5,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAT . . 70766332 MDH2 . GRCh38 chr7 76048186 76048186 + Missense_Mutation SNP C C T rs6720 7316-2156 BS_H9813KRS C C c.26C>T p.Ala9Val p.A9V ENST00000315758 1/9 127 117 8 39 38 0 MDH2,missense_variant,p.Ala9Val,ENST00000315758,NM_005918.3;MDH2,missense_variant,p.Ala9Val,ENST00000432020,NM_001282403.1;MDH2,missense_variant,p.Ala9Val,ENST00000461263,;MDH2,5_prime_UTR_variant,,ENST00000443006,NM_001282404.1;STYXL1,upstream_gene_variant,,ENST00000248600,NM_016086.2,NM_001317786.1,NM_001317785.1;STYXL1,upstream_gene_variant,,ENST00000340062,NM_001317788.1,NM_001317787.1;STYXL1,upstream_gene_variant,,ENST00000359697,;STYXL1,upstream_gene_variant,,ENST00000360591,NM_001317789.1;STYXL1,upstream_gene_variant,,ENST00000431581,;STYXL1,upstream_gene_variant,,ENST00000451157,;MDH2,non_coding_transcript_exon_variant,,ENST00000490105,;STYXL1,upstream_gene_variant,,ENST00000460184,;AC006330.1,upstream_gene_variant,,ENST00000624598,;MDH2,non_coding_transcript_exon_variant,,ENST00000461665,;STYXL1,upstream_gene_variant,,ENST00000474328,;,regulatory_region_variant,,ENSR00000213855,; T ENSG00000146701 ENST00000315758 Transcript missense_variant 120/2209 26/1017 9/338 A/V gCc/gTc rs6720,COSM453397 1 1 MDH2 HGNC HGNC:6971 protein_coding YES CCDS5581.1 ENSP00000327070 P40926 A0A024R4K3 UPI000013DA68 NM_005918.3 tolerated(0.09) benign(0) 1/9 Low_complexity_(Seg):seg,Superfamily_domains:SSF51735 0.5222 0.7073 0.4164 0.6071 0.327 0.4601 0.5945 0.2868 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCC . . 0.4002 0.6585 0.4799 0.2549 0.5932 0.4117 0.2996 0.3462 0.4488 76048186 SRRM3 . GRCh38 chr7 76281495 76281495 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1063A>C p.Thr355Pro p.T355P ENST00000611745 12/15 31 22 7 13 13 0 SRRM3,missense_variant,p.Thr355Pro,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,downstream_gene_variant,,ENST00000479284,;SRRM3,upstream_gene_variant,,ENST00000612155,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 1270/3612 1063/1962 355/653 T/P Acg/Ccg 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 tolerated(0.09) probably_damaging(0.934) 12/15 hmmpanther:PTHR45041,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAC . . 76281495 HSPB1 . GRCh38 chr7 76303983 76303983 + Splice_Site SNP G G C rs878909287 7316-2156 BS_H9813KRS G G c.429-1G>C p.X143_splice ENST00000248553 120 110 8 35 35 0 HSPB1,splice_acceptor_variant,,ENST00000248553,NM_001540.3;HSPB1,splice_acceptor_variant,,ENST00000429938,;HSPB1,splice_acceptor_variant,,ENST00000447574,;,regulatory_region_variant,,ENSR00000213898,; C ENSG00000106211 ENST00000248553 Transcript splice_acceptor_variant rs878909287 1 1 HSPB1 HGNC HGNC:5246 protein_coding YES CCDS5583.1 ENSP00000248553 P04792 V9HW43 UPI000004D118 NM_001540.3 2/2 HIGH 1 SNV 1 1 PASS AGG . . 76303983 COL1A2 . GRCh38 chr7 94400194 94400194 + Splice_Site SNP A A G rs113180440 7316-2156 BS_H9813KRS A A c.133-2A>G p.X45_splice ENST00000297268 115 99 10 35 35 0 COL1A2,splice_acceptor_variant,,ENST00000620463,;COL1A2,splice_acceptor_variant,,ENST00000297268,NM_000089.3;AC002074.1,upstream_gene_variant,,ENST00000644739,; G ENSG00000164692 ENST00000297268 Transcript splice_acceptor_variant rs113180440,COSM1496710 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 4/51 0,1 HIGH 1 SNV 1 0,1 1 PASS CAG . . 94400194 COL1A2 . GRCh38 chr7 94405728 94405728 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.540+2T>G p.X180_splice ENST00000297268 115 97 11 47 47 0 COL1A2,splice_donor_variant,,ENST00000620463,;COL1A2,splice_donor_variant,,ENST00000297268,NM_000089.3; G ENSG00000164692 ENST00000297268 Transcript splice_donor_variant 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 11/51 HIGH 1 SNV 1 1 PASS GTG . . 94405728 COL1A2 . GRCh38 chr7 94407844 94407844 + Splice_Region SNP T T A rs72656374 7316-2156 BS_H9813KRS T T c.595-3T>A ENST00000297268 108 98 6 52 52 0 COL1A2,splice_region_variant,,ENST00000620463,;COL1A2,splice_region_variant,,ENST00000297268,NM_000089.3; A ENSG00000164692 ENST00000297268 Transcript splice_region_variant,intron_variant rs72656374,CS011531 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 12/51 LOW 1 SNV 1 0,1 1 PASS GTA . . 94407844 COL1A2 . GRCh38 chr7 94408825 94408825 + Splice_Site SNP T T G 7316-2156 BS_H9813KRS T T c.792+2T>G p.X264_splice ENST00000297268 114 106 6 42 40 2 COL1A2,splice_donor_variant,,ENST00000620463,;COL1A2,splice_donor_variant,,ENST00000297268,NM_000089.3;COL1A2,upstream_gene_variant,,ENST00000488298,; G ENSG00000164692 ENST00000297268 Transcript splice_donor_variant CS071194,CS951382 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 16/51 HIGH 1 SNV 1 1,1 1 PASS GTA . . 94408825 COL1A2 . GRCh38 chr7 94414277 94414277 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.1719+2T>G p.X573_splice ENST00000297268 111 102 9 40 40 0 COL1A2,splice_donor_variant,,ENST00000620463,;COL1A2,splice_donor_variant,,ENST00000297268,NM_000089.3;COL1A2,splice_donor_variant,,ENST00000473573,;COL1A2,splice_donor_variant,,ENST00000488298,;COL1A2,upstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000497316,; G ENSG00000164692 ENST00000297268 Transcript splice_donor_variant 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 29/51 HIGH 1 SNV 1 1 PASS GTG . . 94414277 COL1A2 . GRCh38 chr7 94415224 94415224 + Splice_Site SNP A A G rs112769218 7316-2156 BS_H9813KRS A A c.1720-2A>G p.X574_splice ENST00000297268 108 96 10 58 58 0 COL1A2,splice_acceptor_variant,,ENST00000620463,;COL1A2,splice_acceptor_variant,,ENST00000297268,NM_000089.3;COL1A2,splice_acceptor_variant,,ENST00000473573,;COL1A2,splice_acceptor_variant,,ENST00000488298,;COL1A2,upstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000467931,;COL1A2,upstream_gene_variant,,ENST00000497316,; G ENSG00000164692 ENST00000297268 Transcript splice_acceptor_variant rs112769218,CS090286,COSM6632750 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 29/51 0,0,1 HIGH 1 SNV 1 0,1,1 1 PASS TAG . . 94415224 COL1A2 . GRCh38 chr7 94416505 94416505 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.1863+2T>G p.X621_splice ENST00000297268 103 91 6 50 49 0 COL1A2,splice_donor_variant,,ENST00000620463,;COL1A2,splice_donor_variant,,ENST00000297268,NM_000089.3;COL1A2,splice_donor_variant,,ENST00000473573,;COL1A2,non_coding_transcript_exon_variant,,ENST00000488298,;COL1A2,upstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000467931,;COL1A2,upstream_gene_variant,,ENST00000497316,; G ENSG00000164692 ENST00000297268 Transcript splice_donor_variant 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 31/51 HIGH 1 SNV 1 1 PASS GTA . . 94416505 COL1A2 . GRCh38 chr7 94417833 94417833 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.1971+2T>G p.X657_splice ENST00000297268 135 104 28 49 47 0 COL1A2,splice_donor_variant,,ENST00000620463,;COL1A2,splice_donor_variant,,ENST00000297268,NM_000089.3;COL1A2,splice_donor_variant,,ENST00000461525,;COL1A2,splice_donor_variant,,ENST00000473573,;COL1A2,splice_donor_variant,,ENST00000497316,;COL1A2,upstream_gene_variant,,ENST00000467931,;COL1A2,upstream_gene_variant,,ENST00000481570,;COL1A2,downstream_gene_variant,,ENST00000488298,;,regulatory_region_variant,,ENSR00000215289,; G ENSG00000164692 ENST00000297268 Transcript splice_donor_variant 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 32/51 HIGH 1 SNV 1 1 PASS GTA . . 94417833 COL1A2 . GRCh38 chr7 94418554 94418554 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2025+2T>G p.X675_splice ENST00000297268 143 87 6 42 41 0 COL1A2,splice_donor_variant,,ENST00000620463,;COL1A2,splice_donor_variant,,ENST00000297268,NM_000089.3;COL1A2,splice_donor_variant,,ENST00000461525,;COL1A2,splice_donor_variant,,ENST00000473573,;COL1A2,splice_donor_variant,,ENST00000497316,;COL1A2,upstream_gene_variant,,ENST00000467931,;COL1A2,upstream_gene_variant,,ENST00000481570,;COL1A2,downstream_gene_variant,,ENST00000488298,; G ENSG00000164692 ENST00000297268 Transcript splice_donor_variant 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 33/51 HIGH 1 SNV 1 1 PASS GTG . . 94418554 COL1A2 . GRCh38 chr7 94423120 94423120 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2565+2T>G p.X855_splice ENST00000297268 109 103 5 38 38 0 COL1A2,splice_donor_variant,,ENST00000620463,;COL1A2,splice_donor_variant,,ENST00000297268,NM_000089.3;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,downstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000467931,;COL1A2,upstream_gene_variant,,ENST00000469732,;COL1A2,downstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000478215,;COL1A2,upstream_gene_variant,,ENST00000488121,;COL1A2,upstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000497316,; G ENSG00000164692 ENST00000297268 Transcript splice_donor_variant 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 40/51 HIGH 1 SNV 1 1 PASS GTA . . 94423120 COL1A2 . GRCh38 chr7 94424445 94424445 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2673+2T>G p.X891_splice ENST00000297268 135 120 11 35 34 0 COL1A2,splice_donor_variant,,ENST00000620463,;COL1A2,splice_donor_variant,,ENST00000297268,NM_000089.3;COL1A2,splice_donor_variant,,ENST00000469732,;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,downstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000467931,;COL1A2,downstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000478215,;COL1A2,upstream_gene_variant,,ENST00000488121,;COL1A2,upstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000497316,;,regulatory_region_variant,,ENSR00000215290,; G ENSG00000164692 ENST00000297268 Transcript splice_donor_variant 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 41/51 HIGH 1 SNV 1 1 PASS GTG . . 94424445 COL1A2 . GRCh38 chr7 94425226 94425226 + Splice_Site SNP T T G rs113412728 7316-2156 BS_H9813KRS T T c.2781+2T>G p.X927_splice ENST00000297268 344 100 27 24 24 0 COL1A2,splice_donor_variant,,ENST00000620463,;COL1A2,splice_donor_variant,,ENST00000297268,NM_000089.3;COL1A2,splice_donor_variant,,ENST00000469732,;COL1A2,splice_donor_variant,,ENST00000481570,;COL1A2,downstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000467931,;COL1A2,downstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000478215,;COL1A2,upstream_gene_variant,,ENST00000488121,;COL1A2,upstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000497316,; G ENSG00000164692 ENST00000297268 Transcript splice_donor_variant rs113412728 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 42/51 HIGH 1 SNV 1 1 PASS GTG . . 94425226 COL1A2 . GRCh38 chr7 94425227 94425227 + Splice_Region SNP G G C novel 7316-2156 BS_H9813KRS G G c.2781+3G>C ENST00000297268 334 99 18 24 24 0 COL1A2,splice_region_variant,,ENST00000620463,;COL1A2,splice_region_variant,,ENST00000297268,NM_000089.3;COL1A2,splice_region_variant,,ENST00000469732,;COL1A2,splice_region_variant,,ENST00000481570,;COL1A2,downstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000467931,;COL1A2,downstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000478215,;COL1A2,upstream_gene_variant,,ENST00000488121,;COL1A2,upstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000497316,; C ENSG00000164692 ENST00000297268 Transcript splice_region_variant,intron_variant 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 42/51 LOW 1 SNV 1 1 PASS TGA . . 94425227 COL1A2 . GRCh38 chr7 94425609 94425609 + Splice_Site SNP G G T 7316-2156 BS_H9813KRS G G c.2782-1G>T p.X928_splice ENST00000297268 110 99 7 42 42 0 COL1A2,splice_acceptor_variant,,ENST00000620463,;COL1A2,splice_acceptor_variant,,ENST00000297268,NM_000089.3;COL1A2,splice_acceptor_variant,,ENST00000469732,;COL1A2,splice_acceptor_variant,,ENST00000481570,;COL1A2,non_coding_transcript_exon_variant,,ENST00000478215,;COL1A2,downstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000467931,;COL1A2,downstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000488121,;COL1A2,upstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000497316,; T ENSG00000164692 ENST00000297268 Transcript splice_acceptor_variant COSM334799,COSM3924263 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 42/51 1,1 HIGH 1 SNV 1 1,1 1 PASS AGG . . 94425609 COL1A2 . GRCh38 chr7 94430246 94430246 + Splice_Site SNP G G T rs113507489 7316-2156 BS_H9813KRS G G c.3955-1G>T p.X1319_splice ENST00000297268 185 89 8 53 51 0 COL1A2,splice_acceptor_variant,,ENST00000620463,;COL1A2,splice_acceptor_variant,,ENST00000297268,NM_000089.3;COL1A2,splice_acceptor_variant,,ENST00000464916,;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,downstream_gene_variant,,ENST00000469732,;COL1A2,downstream_gene_variant,,ENST00000478215,;COL1A2,downstream_gene_variant,,ENST00000488121,;COL1A2,downstream_gene_variant,,ENST00000492110,; T ENSG00000164692 ENST00000297268 Transcript splice_acceptor_variant rs113507489,COSM389627 1 1 COL1A2 HGNC HGNC:2198 protein_coding YES CCDS34682.1 ENSP00000297268 P08123 A0A0S2Z3H5 UPI00003B0CFC NM_000089.3 51/51 0,1 HIGH 1 SNV 1 0,1 1 PASS AGA . . 94430246 ZNF3 . GRCh38 chr7 100071452 100071452 + Missense_Mutation SNP T T A 7316-2156 BS_H9813KRS T T c.1032A>T p.Glu344Asp p.E344D ENST00000303915 5/5 123 101 5 41 39 0 ZNF3,missense_variant,p.Glu344Asp,ENST00000303915,;ZNF3,missense_variant,p.Glu344Asp,ENST00000299667,NM_032924.4,NM_001278284.1,NM_001278287.1,NM_001318135.1;ZNF3,missense_variant,p.Glu344Asp,ENST00000424697,NM_001278290.1,NM_001318136.1;ZNF3,intron_variant,,ENST00000413658,NM_017715.3,NM_001318137.1;ZNF3,downstream_gene_variant,,ENST00000292393,;ZNF3,downstream_gene_variant,,ENST00000412947,NM_001278292.1,NM_001278291.1;ZNF3,downstream_gene_variant,,ENST00000415068,;ZNF3,downstream_gene_variant,,ENST00000428683,;ZNF3,downstream_gene_variant,,ENST00000441298,;ZNF3,downstream_gene_variant,,ENST00000449785,;ZNF3,non_coding_transcript_exon_variant,,ENST00000487620,;ZNF3,downstream_gene_variant,,ENST00000460331,;ZNF3,downstream_gene_variant,,ENST00000466121,;ZNF3,downstream_gene_variant,,ENST00000485892,; A ENSG00000166526 ENST00000303915 Transcript missense_variant 2000/3473 1032/1341 344/446 E/D gaA/gaT COSM3267586 1 -1 ZNF3 HGNC HGNC:13089 protein_coding YES CCDS43619.1 ENSP00000306372 P17036 UPI000000D9B2 tolerated(0.06) benign(0.111) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF189,hmmpanther:PTHR24377:SF189,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 5 1 PASS ATT . . 100071452 MBLAC1 . GRCh38 chr7 100127645 100127645 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.250A>C p.Thr84Pro p.T84P ENST00000398075 2/2 109 94 12 26 25 0 MBLAC1,missense_variant,p.Thr84Pro,ENST00000398075,NM_203397.2;MBLAC1,missense_variant,p.Thr84Pro,ENST00000421390,;CNPY4,downstream_gene_variant,,ENST00000262932,NM_152755.1;CNPY4,downstream_gene_variant,,ENST00000483756,;AC073842.1,upstream_gene_variant,,ENST00000376482,;AC073842.2,upstream_gene_variant,,ENST00000494221,;CNPY4,downstream_gene_variant,,ENST00000480692,;CNPY4,downstream_gene_variant,,ENST00000462193,;,regulatory_region_variant,,ENSR00000215742,; C ENSG00000214309 ENST00000398075 Transcript missense_variant 649/1502 250/801 84/266 T/P Acc/Ccc 1 1 MBLAC1 HGNC HGNC:22180 protein_coding YES CCDS43620.1 ENSP00000381150 A4D2B0 UPI000013FF40 NM_203397.2 deleterious(0) probably_damaging(0.999) 2/2 Gene3D:3.60.15.10,PDB-ENSP_mappings:4v0h.A,PDB-ENSP_mappings:4v0h.B,PDB-ENSP_mappings:4v0h.C,PDB-ENSP_mappings:4v0h.D,Pfam_domain:PF00753,hmmpanther:PTHR23200,hmmpanther:PTHR23200:SF48,SMART_domains:SM00849,Superfamily_domains:SSF56281,cd07711 MODERATE 1 SNV 1 PASS CAC . . 100127645 MUC17 . GRCh38 chr7 101034616 101034616 + Missense_Mutation SNP C C T rs764782729 7316-2156 BS_H9813KRS C C c.3200C>T p.Ala1067Val p.A1067V ENST00000306151 3/13 115 88 7 56 53 0 MUC17,missense_variant,p.Ala1067Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala1067Val,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 3264/14247 3200/13482 1067/4493 A/V gCt/gTt rs764782729,COSM6337075 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.001) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS GCT . . 101034616 MUC17 . GRCh38 chr7 101037152 101037152 + Missense_Mutation SNP C C A 7316-2156 BS_H9813KRS C C c.5736C>A p.Asp1912Glu p.D1912E ENST00000306151 3/13 139 110 12 36 36 0 MUC17,missense_variant,p.Asp1912Glu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asp1912Glu,ENST00000379439,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 5800/14247 5736/13482 1912/4493 D/E gaC/gaA COSM598157 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS ACG . . 101037152 MUC17 . GRCh38 chr7 101038440 101038440 + Missense_Mutation SNP C C A 7316-2156 BS_H9813KRS C C c.7024C>A p.Arg2342Ser p.R2342S ENST00000306151 3/13 107 87 10 34 33 0 MUC17,missense_variant,p.Arg2342Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Arg2342Ser,ENST00000379439,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 7088/14247 7024/13482 2342/4493 R/S Cgt/Agt COSM6265008,COSM199611 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.86) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 1,1 MODERATE 1 SNV 1 1,1 PASS ACG . . 101038440 MUC17 . GRCh38 chr7 101039224 101039224 + Missense_Mutation SNP T T G 7316-2156 BS_H9813KRS T T c.7808T>G p.Ile2603Arg p.I2603R ENST00000306151 3/13 115 91 9 57 53 1 MUC17,missense_variant,p.Ile2603Arg,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile2603Arg,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 7872/14247 7808/13482 2603/4493 I/R aTa/aGa COSM6278725 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0) benign(0.093) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS ATA . . 101039224 MUC17 . GRCh38 chr7 101039898 101039898 + Missense_Mutation SNP G G T 7316-2156 BS_H9813KRS G G c.8482G>T p.Gly2828Cys p.G2828C ENST00000306151 3/13 97 78 9 54 52 0 MUC17,missense_variant,p.Gly2828Cys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2828Cys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 8546/14247 8482/13482 2828/4493 G/C Ggc/Tgc COSM3703090 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.01) probably_damaging(0.979) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS TGG . . 101039898 MUC17 . GRCh38 chr7 101042332 101042332 + Missense_Mutation SNP T T A novel 7316-2156 BS_H9813KRS T T c.10916T>A p.Ile3639Asn p.I3639N ENST00000306151 3/13 94 82 7 42 38 0 MUC17,missense_variant,p.Ile3639Asn,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile3639Asn,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 10980/14247 10916/13482 3639/4493 I/N aTt/aAt 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.06) possibly_damaging(0.573) 3/13 hmmpanther:PTHR37999 MODERATE 1 SNV 1 PASS ATT . . 101042332 VGF . GRCh38 chr7 101163948 101163948 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.896A>C p.Gln299Pro p.Q299P ENST00000249330 2/2 111 93 11 39 39 0 VGF,missense_variant,p.Gln299Pro,ENST00000249330,NM_003378.3;VGF,missense_variant,p.Gln299Pro,ENST00000445482,;VGF,missense_variant,p.Gln299Pro,ENST00000611537,;AP1S1,downstream_gene_variant,,ENST00000337619,NM_001283.3;AP1S1,downstream_gene_variant,,ENST00000429457,;AP1S1,downstream_gene_variant,,ENST00000646560,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000643104,;AP1S1,downstream_gene_variant,,ENST00000443943,;AP1S1,downstream_gene_variant,,ENST00000646950,;,regulatory_region_variant,,ENSR00000215902,; G ENSG00000128564 ENST00000249330 Transcript missense_variant 1136/2575 896/1848 299/615 Q/P cAa/cCa 1 -1 VGF HGNC HGNC:12684 protein_coding YES CCDS5712.1 ENSP00000249330 O15240 UPI000006FC7B NM_003378.3 deleterious_low_confidence(0) possibly_damaging(0.644) 2/2 Gene3D:1.10.601.10,hmmpanther:PTHR15159 MODERATE 1 SNV 1 PASS TTG . . 101163948 ARMC10 . GRCh38 chr7 103075413 103075413 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.139+2T>G p.X47_splice ENST00000323716 106 93 7 26 26 0 ARMC10,splice_donor_variant,,ENST00000323716,NM_031905.4;ARMC10,splice_donor_variant,,ENST00000425331,NM_001161011.2;ARMC10,splice_donor_variant,,ENST00000428183,NM_001161010.2;ARMC10,splice_donor_variant,,ENST00000434153,;ARMC10,splice_donor_variant,,ENST00000441711,NM_001161009.2;ARMC10,splice_donor_variant,,ENST00000454559,NM_001161012.2;ARMC10,splice_donor_variant,,ENST00000541300,NM_001161013.2;FBXL13,upstream_gene_variant,,ENST00000313221,NM_145032.3;FBXL13,upstream_gene_variant,,ENST00000379305,NM_001287150.1;FBXL13,upstream_gene_variant,,ENST00000379308,;FBXL13,upstream_gene_variant,,ENST00000440067,;FBXL13,upstream_gene_variant,,ENST00000455112,NM_001111038.1;FBXL13,upstream_gene_variant,,ENST00000456695,;FBXL13,upstream_gene_variant,,ENST00000471074,;ARMC10,splice_donor_variant,,ENST00000306450,;ARMC10,splice_donor_variant,,ENST00000323735,;FBXL13,upstream_gene_variant,,ENST00000448002,;,regulatory_region_variant,,ENSR00000216192,; G ENSG00000170632 ENST00000323716 Transcript splice_donor_variant 1 1 ARMC10 HGNC HGNC:21706 protein_coding YES CCDS5728.1 ENSP00000319412 Q8N2F6 UPI0000039E55 NM_031905.4 1/6 HIGH 1 SNV 1 PASS GTG . . 103075413 KCP . GRCh38 chr7 128893236 128893236 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1267+2T>G p.X423_splice ENST00000610776 102 90 8 41 41 0 KCP,splice_donor_variant,,ENST00000610776,;KCP,splice_donor_variant,,ENST00000613019,;KCP,splice_donor_variant,,ENST00000620378,NM_001135914.1;KCP,splice_donor_variant,,ENST00000612224,NM_199349.2;KCP,splice_donor_variant,,ENST00000611280,;KCP,splice_donor_variant,,ENST00000616669,; C ENSG00000135253 ENST00000610776 Transcript splice_donor_variant 1 -1 KCP HGNC HGNC:17585 protein_coding YES ENSP00000479679 A0A087WVT8 UPI0004620CE8 13/39 HIGH 1 SNV 5 PASS CAC . . 128893236 AC011005.1 . GRCh38 chr7 129127260 129127260 + Missense_Mutation SNP T T A rs975749228 7316-2156 BS_H9813KRS T T c.743T>A p.Val248Asp p.V248D ENST00000467614 1/2 106 98 6 30 30 0 AC011005.1,missense_variant,p.Val248Asp,ENST00000467614,;,regulatory_region_variant,,ENSR00000217822,;,regulatory_region_variant,,ENSR00000328310,; A ENSG00000230626 ENST00000467614 Transcript missense_variant 743/1263 743/1218 248/405 V/D gTc/gAc rs975749228 1 1 AC011005.1 Clone_based_ensembl_gene protein_coding YES ENSP00000490163 A0A1B0GUL7 UPI0007E52AE8 tolerated(1) benign(0) 1/2 PROSITE_profiles:PS50011,cd06615,hmmpanther:PTHR24361:SF314,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112 MODERATE 1 SNV 3 PASS GTC . . 129127260 AC011005.1 . GRCh38 chr7 129127495 129127495 + Missense_Mutation SNP A A C rs902136151 7316-2156 BS_H9813KRS A A c.978A>C p.Lys326Asn p.K326N ENST00000467614 1/2 115 99 9 22 21 0 AC011005.1,missense_variant,p.Lys326Asn,ENST00000467614,; C ENSG00000230626 ENST00000467614 Transcript missense_variant 978/1263 978/1218 326/405 K/N aaA/aaC rs902136151 1 1 AC011005.1 Clone_based_ensembl_gene protein_coding YES ENSP00000490163 A0A1B0GUL7 UPI0007E52AE8 tolerated(1) benign(0) 1/2 PROSITE_profiles:PS50011,cd06615,hmmpanther:PTHR24361:SF314,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112 MODERATE 1 SNV 3 PASS AAG . . 129127495 AC011005.1 . GRCh38 chr7 129127577 129127577 + Missense_Mutation SNP A A G rs534020220 7316-2156 BS_H9813KRS A A c.1060A>G p.Thr354Ala p.T354A ENST00000467614 1/2 120 105 8 29 29 0 AC011005.1,missense_variant,p.Thr354Ala,ENST00000467614,; G ENSG00000230626 ENST00000467614 Transcript missense_variant 1060/1263 1060/1218 354/405 T/A Acg/Gcg rs534020220 1 1 AC011005.1 Clone_based_ensembl_gene protein_coding YES ENSP00000490163 A0A1B0GUL7 UPI0007E52AE8 tolerated(1) benign(0) 1/2 PROSITE_profiles:PS50011,cd06615,hmmpanther:PTHR24361:SF314,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112 0.0002 0.0014 MODERATE 1 SNV 3 PASS AAC . . 129127577 TRIM24 . GRCh38 chr7 138460910 138460910 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.362A>C p.Gln121Pro p.Q121P ENST00000343526 1/19 91 72 12 43 41 0 TRIM24,missense_variant,p.Gln121Pro,ENST00000343526,NM_015905.2;TRIM24,missense_variant,p.Gln121Pro,ENST00000415680,NM_003852.3;TRIM24,upstream_gene_variant,,ENST00000497516,;,regulatory_region_variant,,ENSR00000218861,; C ENSG00000122779 ENST00000343526 Transcript missense_variant,splice_region_variant 577/8410 362/3153 121/1050 Q/P cAa/cCa 1 1 TRIM24 HGNC HGNC:11812 protein_coding YES CCDS5847.1 ENSP00000340507 O15164 UPI00000012CB NM_015905.2 tolerated(0.49) benign(0) 1/19 cd16764,Gene3D:3.30.40.10,SMART_domains:SM00184,PROSITE_profiles:PS50089 MODERATE 1 SNV 1 1 PASS CAA . . 138460910 TRBV7-4 . GRCh38 chr7 142455559 142455559 + Missense_Mutation SNP A A G rs1173337964 7316-2156 BS_H9813KRS A A c.271A>G p.Arg91Gly p.R91G ENST00000390369 2/2 116 94 15 34 32 0 TRBV7-4,missense_variant,p.Arg91Gly,ENST00000390369,;TRBV6-5,downstream_gene_variant,,ENST00000390368,;,regulatory_region_variant,,ENSR00000219246,; G ENSG00000253409 ENST00000390369 Transcript missense_variant 271/347 271/347 91/115 R/G Aga/Gga rs1173337964 1 1 TRBV7-4 HGNC HGNC:12238 TR_V_gene YES ENSP00000374892 A0A1B0GX95 UPI00053BD5AB tolerated(1) benign(0) 2/2 MODERATE 1 SNV PASS GAG . . 142455559 ZYX . GRCh38 chr7 143381759 143381759 + Missense_Mutation SNP T T G rs201850974 7316-2156 BS_H9813KRS T T c.188T>G p.Ile63Ser p.I63S ENST00000322764 2/10 105 90 13 25 25 0 ZYX,missense_variant,p.Ile63Ser,ENST00000322764,NM_003461.4,NM_001010972.1;ZYX,missense_variant,p.Ile62Ser,ENST00000354434,;ZYX,missense_variant,p.Ile63Ser,ENST00000457235,;ZYX,intron_variant,,ENST00000449630,;ZYX,upstream_gene_variant,,ENST00000392910,;ZYX,upstream_gene_variant,,ENST00000446634,;MIR6892,upstream_gene_variant,,ENST00000612346,;AC093673.1,upstream_gene_variant,,ENST00000429630,;ZYX,upstream_gene_variant,,ENST00000477373,;ZYX,non_coding_transcript_exon_variant,,ENST00000468083,;ZYX,upstream_gene_variant,,ENST00000436448,;,regulatory_region_variant,,ENSR00000219365,; G ENSG00000159840 ENST00000322764 Transcript missense_variant 533/2493 188/1719 63/572 I/S aTt/aGt rs201850974 1 1 ZYX HGNC HGNC:13200 protein_coding YES CCDS5883.1 ENSP00000324422 Q15942 UPI00000424F2 NM_003461.4,NM_001010972.1 deleterious(0.01) benign(0.218) 2/10 hmmpanther:PTHR24212,hmmpanther:PTHR24212:SF1,mobidb-lite 0.0084 0.0257 0.0072 0.003 0.01441 0.001073 MODERATE 1 SNV 1 PASS ATT . . 0.002385 0.02186 0.003993 0.004975 0.0008808 0.004817 3.741e-05 143381759 ZNF775 . GRCh38 chr7 150398079 150398079 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1598A>C p.Lys533Thr p.K533T ENST00000329630 3/3 104 79 12 32 32 0 ZNF775,missense_variant,p.Lys533Thr,ENST00000329630,NM_173680.3;AC073111.3,downstream_gene_variant,,ENST00000478789,;ZNF775,downstream_gene_variant,,ENST00000490973,;AC073111.4,intron_variant,,ENST00000483664,;AC073111.4,intron_variant,,ENST00000486297,;AC073111.5,upstream_gene_variant,,ENST00000641330,; C ENSG00000196456 ENST00000329630 Transcript missense_variant 1705/2257 1598/1614 533/537 K/T aAg/aCg 1 1 ZNF775 HGNC HGNC:28501 protein_coding YES CCDS43678.1 ENSP00000330838 Q96BV0 UPI00001BDA25 NM_173680.3 deleterious_low_confidence(0.04) benign(0.026) 3/3 MODERATE 1 SNV 1 PASS AAG . . 150398079 TMEM176A . GRCh38 chr7 150804367 150804367 + Missense_Mutation SNP G G T rs10378 7316-2156 BS_H9813KRS G G c.561G>T p.Leu187Phe p.L187F ENST00000484928 6/7 104 92 7 43 43 0 TMEM176A,missense_variant,p.Leu187Phe,ENST00000484928,;TMEM176A,missense_variant,p.Leu187Phe,ENST00000004103,NM_018487.2;TMEM176A,missense_variant,p.Leu139Phe,ENST00000475536,;TMEM176A,missense_variant,p.Leu128Phe,ENST00000461345,;TMEM176B,upstream_gene_variant,,ENST00000326442,;TMEM176B,upstream_gene_variant,,ENST00000434545,NM_001101311.1,NM_001101312.1;TMEM176B,upstream_gene_variant,,ENST00000447204,NM_014020.3;TMEM176B,upstream_gene_variant,,ENST00000450753,NM_001101314.1;TMEM176A,downstream_gene_variant,,ENST00000468689,;TMEM176B,upstream_gene_variant,,ENST00000492607,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000494349,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000475007,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000474166,;TMEM176A,intron_variant,,ENST00000462826,;TMEM176A,intron_variant,,ENST00000481305,;TMEM176A,downstream_gene_variant,,ENST00000475710,; T ENSG00000002933 ENST00000484928 Transcript missense_variant 1142/1530 561/708 187/235 L/F ttG/ttT rs10378 1 1 TMEM176A HGNC HGNC:24930 protein_coding YES CCDS5909.1 ENSP00000417626 Q96HP8 A0A090N8H6 UPI000006E9AA deleterious(0) probably_damaging(0.999) 6/7 Pfam_domain:PF04103,hmmpanther:PTHR15756,hmmpanther:PTHR15756:SF6 0.1278 0.1694 0.1354 0.0397 0.172 0.1115 0.1636 0.171 MODERATE SNV 5 PASS TGT . . 0.1392 0.1619 0.0996 0.1455 0.03305 0.1213 0.173 0.1489 0.117 150804367 KCNH2 . GRCh38 chr7 150947329 150947329 + Splice_Region SNP T T G 7316-2156 BS_H9813KRS T T c.3151A>C p.Arg1051= p.R1051= ENST00000262186 13/15 100 73 15 32 29 0 KCNH2,splice_region_variant,p.Arg1051=,ENST00000262186,NM_000238.3;KCNH2,splice_region_variant,p.Arg711=,ENST00000330883,NM_172057.2;KCNH2,downstream_gene_variant,,ENST00000430723,NM_172056.2;KCNH2,downstream_gene_variant,,ENST00000461280,NM_001204798.1;KCNH2,downstream_gene_variant,,ENST00000473610,;KCNH2,downstream_gene_variant,,ENST00000532957,;,regulatory_region_variant,,ENSR00000219754,; G ENSG00000055118 ENST00000262186 Transcript splice_region_variant,synonymous_variant 3553/4286 3151/3480 1051/1159 R Agg/Cgg COSM6497249,COSM6497248 1 -1 KCNH2 HGNC HGNC:6251 protein_coding YES CCDS5910.1 ENSP00000262186 Q12809 A0A090N8Q0 UPI0000062255 NM_000238.3 13/15 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506 1,1 LOW 1 SNV 1 1,1 1 PASS CTG . . 150947329 INSIG1 . GRCh38 chr7 155297962 155297962 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.-28+3A>C ENST00000340368 94 76 11 42 42 0 INSIG1,splice_region_variant,,ENST00000340368,NM_005542.4,NM_001346592.1;INSIG1,splice_region_variant,,ENST00000342407,NM_198337.2;INSIG1,splice_region_variant,,ENST00000344756,NM_198336.2;INSIG1,5_prime_UTR_variant,,ENST00000425172,;INSIG1,upstream_gene_variant,,ENST00000476756,;AC144652.1,upstream_gene_variant,,ENST00000609974,;INSIG1,upstream_gene_variant,,ENST00000468307,;,regulatory_region_variant,,ENSR00000220058,; C ENSG00000186480 ENST00000340368 Transcript splice_region_variant,intron_variant 1 1 INSIG1 HGNC HGNC:6083 protein_coding YES CCDS5938.1 ENSP00000344741 O15503 A0A024RD68 UPI00000015DE NM_005542.4,NM_001346592.1 1/5 LOW 1 SNV 1 PASS TAC . . 155297962 SHH . GRCh38 chr7 155803376 155803376 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.913T>G p.Phe305Val p.F305V ENST00000297261 3/3 101 90 9 29 29 0 SHH,missense_variant,p.Phe305Val,ENST00000297261,NM_000193.3;SHH,intron_variant,,ENST00000430104,NM_001310462.1;SHH,downstream_gene_variant,,ENST00000472308,;SHH,intron_variant,,ENST00000435425,;SHH,intron_variant,,ENST00000441114,;,regulatory_region_variant,,ENSR00000220120,; C ENSG00000164690 ENST00000297261 Transcript missense_variant 1064/4454 913/1389 305/462 F/V Ttc/Gtc 1 -1 SHH HGNC HGNC:10848 protein_coding YES CCDS5942.1 ENSP00000297261 Q15465 UPI0000135942 NM_000193.3 deleterious(0) possibly_damaging(0.714) 3/3 cd00081,hmmpanther:PTHR11889,hmmpanther:PTHR11889:SF36,PIRSF_domain:PIRSF009400,Gene3D:2.170.16.10,Pfam_domain:PF01079,SMART_domains:SM00306,Superfamily_domains:SSF51294 MODERATE 1 SNV 1 1 PASS AAC . . 155803376 XKR6 . GRCh38 chr8 11201022 11201022 + Missense_Mutation SNP T T G rs933596769 7316-2156 BS_H9813KRS T T c.318A>C p.Gln106His p.Q106H ENST00000416569 1/3 99 83 13 25 24 0 XKR6,missense_variant,p.Gln106His,ENST00000416569,NM_173683.3;XKR6,missense_variant,p.Gln106His,ENST00000297303,;AF131215.7,upstream_gene_variant,,ENST00000602443,;XKR6,upstream_gene_variant,,ENST00000529336,;,regulatory_region_variant,,ENSR00000221033,; G ENSG00000171044 ENST00000416569 Transcript missense_variant 345/3382 318/1926 106/641 Q/H caA/caC rs933596769 1 -1 XKR6 HGNC HGNC:27806 protein_coding YES CCDS5978.2 ENSP00000416707 Q5GH73 UPI00004C7A9D NM_173683.3 tolerated(0.09) benign(0) 1/3 hmmpanther:PTHR16024,hmmpanther:PTHR16024:SF9,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 11201022 CTSB . GRCh38 chr8 11853379 11853379 + Missense_Mutation SNP G G C rs12338 7316-2156 BS_H9813KRS G G c.76C>G p.Leu26Val p.L26V ENST00000353047 2/10 200 163 30 43 43 0 CTSB,missense_variant,p.Leu26Val,ENST00000353047,NM_001908.4;CTSB,missense_variant,p.Leu26Val,ENST00000345125,NM_147781.3;CTSB,missense_variant,p.Leu26Val,ENST00000453527,NM_147783.3;CTSB,missense_variant,p.Leu26Val,ENST00000533455,NM_147780.3,NM_147782.3,NM_001317237.1;CTSB,missense_variant,p.Leu26Val,ENST00000534510,;CTSB,missense_variant,p.Leu26Val,ENST00000531089,;CTSB,missense_variant,p.Leu26Val,ENST00000530640,;CTSB,missense_variant,p.Leu26Val,ENST00000533572,;CTSB,missense_variant,p.Leu26Val,ENST00000534382,;CTSB,missense_variant,p.Leu26Val,ENST00000534636,;CTSB,missense_variant,p.Leu26Val,ENST00000527243,;CTSB,missense_variant,p.Leu26Val,ENST00000524500,;CTSB,missense_variant,p.Leu26Val,ENST00000532656,;CTSB,missense_variant,p.Leu26Val,ENST00000530296,;CTSB,missense_variant,p.Leu26Val,ENST00000526195,;CTSB,missense_variant,p.Leu26Val,ENST00000526645,;CTSB,missense_variant,p.Leu26Val,ENST00000531502,;CTSB,missense_variant,p.Leu26Val,ENST00000528965,;CTSB,missense_variant,p.Leu26Val,ENST00000527215,;CTSB,missense_variant,p.Leu26Val,ENST00000505496,;CTSB,missense_variant,p.Leu26Val,ENST00000534149,;CTSB,missense_variant,p.Leu26Val,ENST00000524654,;CTSB,downstream_gene_variant,,ENST00000532392,;CTSB,non_coding_transcript_exon_variant,,ENST00000525076,;CTSB,upstream_gene_variant,,ENST00000530290,;CTSB,upstream_gene_variant,,ENST00000530624,;CTSB,upstream_gene_variant,,ENST00000533110,;CTSB,missense_variant,p.Leu26Val,ENST00000531551,;CTSB,non_coding_transcript_exon_variant,,ENST00000532370,;CTSB,non_coding_transcript_exon_variant,,ENST00000525315,;CTSB,upstream_gene_variant,,ENST00000420692,;CTSB,upstream_gene_variant,,ENST00000532409,;,regulatory_region_variant,,ENSR00000221126,; C ENSG00000164733 ENST00000353047 Transcript missense_variant 330/3875 76/1020 26/339 L/V Ctg/Gtg rs12338,CM066015,COSM3763011 1 -1 CTSB HGNC HGNC:2527 protein_coding YES CCDS5986.1 ENSP00000345672 P07858 A0A024R374 UPI000013E3F0 NM_001908.4 deleterious(0) benign(0.048) 2/10 PDB-ENSP_mappings:1pbh.A,PDB-ENSP_mappings:2pbh.A,PDB-ENSP_mappings:3pbh.A,Pfam_domain:PF08127,Superfamily_domains:SSF54001 0.3960 0.3298 0.3905 0.5149 0.3827 0.3804 0.3384 0.3747 0,0,1 22851129,17698872 MODERATE 1 SNV 1 0,1,1 1 PASS AGG . . 0.3778 0.3275 0.3491 0.2836 0.5023 0.4023 0.3834 0.3788 0.3563 11853379 FGL1 . GRCh38 chr8 17882130 17882130 + Missense_Mutation SNP C C A rs78484373 7316-2156 BS_H9813KRS C C c.113G>T p.Arg38Leu p.R38L ENST00000398056 5/10 136 126 6 42 40 0 FGL1,missense_variant,p.Arg38Leu,ENST00000398056,;FGL1,missense_variant,p.Arg38Leu,ENST00000398054,NM_201553.1;FGL1,missense_variant,p.Arg38Leu,ENST00000381841,NM_201552.1;FGL1,missense_variant,p.Arg38Leu,ENST00000522444,;FGL1,missense_variant,p.Arg38Leu,ENST00000381840,NM_147203.2;FGL1,missense_variant,p.Arg38Leu,ENST00000427924,NM_004467.3;FGL1,missense_variant,p.Arg38Leu,ENST00000518650,;AC087273.1,non_coding_transcript_exon_variant,,ENST00000519368,;FGL1,non_coding_transcript_exon_variant,,ENST00000523097,;FGL1,downstream_gene_variant,,ENST00000518769,; A ENSG00000104760 ENST00000398056 Transcript missense_variant 929/1967 113/939 38/312 R/L cGc/cTc rs78484373,COSM3698995 1 -1 FGL1 HGNC HGNC:3695 protein_coding YES CCDS6004.1 ENSP00000381133 Q08830 UPI0000169E8B tolerated(0.06) benign(0.096) 5/10 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF263,Gene3D:3.90.215.10 0.0212 0.0076 0.0173 0.0378 0.047 0.005901 0.02256 0,1 MODERATE 1 SNV 2 0,1 PASS GCG . . 0.02646 0.006142 0.01341 0.04939 0.0008118 0.0357 0.02735 0.03359 0.04662 17882130 PDLIM2 . GRCh38 chr8 22579318 22579318 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.539T>G p.Val180Gly p.V180G ENST00000308354 1/10 70 62 6 32 32 0 PDLIM2,missense_variant,p.Val180Gly,ENST00000308354,NM_021630.5;PDLIM2,missense_variant,p.Val180Gly,ENST00000339162,;PDLIM2,5_prime_UTR_variant,,ENST00000397760,;PDLIM2,intron_variant,,ENST00000397761,;PDLIM2,intron_variant,,ENST00000452226,;PDLIM2,intron_variant,,ENST00000456545,;SORBS3,downstream_gene_variant,,ENST00000240123,NM_005775.4;PDLIM2,upstream_gene_variant,,ENST00000265810,NM_176871.3;PDLIM2,upstream_gene_variant,,ENST00000409141,NM_198042.3;PDLIM2,upstream_gene_variant,,ENST00000409417,;PDLIM2,upstream_gene_variant,,ENST00000426493,;PDLIM2,upstream_gene_variant,,ENST00000429812,;PDLIM2,upstream_gene_variant,,ENST00000436754,;SORBS3,downstream_gene_variant,,ENST00000517962,;SORBS3,downstream_gene_variant,,ENST00000523965,NM_001018003.2;PDLIM2,upstream_gene_variant,,ENST00000616289,;PDLIM2,upstream_gene_variant,,ENST00000622702,;SORBS3,downstream_gene_variant,,ENST00000519127,;PDLIM2,upstream_gene_variant,,ENST00000416159,;SORBS3,downstream_gene_variant,,ENST00000517535,;SORBS3,downstream_gene_variant,,ENST00000520207,;,regulatory_region_variant,,ENSR00000222078,; G ENSG00000120913 ENST00000308354 Transcript missense_variant 578/2236 539/1809 180/602 V/G gTc/gGc 1 1 PDLIM2 HGNC HGNC:13992 protein_coding YES CCDS6032.2 ENSP00000312634 Q96JY6 UPI0000E5AE4E NM_021630.5 deleterious_low_confidence(0.02) benign(0.145) 1/10 MODERATE 1 SNV 1 PASS GTC . . 22579318 CLU . GRCh38 chr8 27604359 27604359 + Missense_Mutation SNP C C A 7316-2156 BS_H9813KRS C C c.866G>T p.Arg289Leu p.R289L ENST00000316403 6/9 175 162 6 38 38 0 CLU,missense_variant,p.Arg289Leu,ENST00000316403,NM_001831.3;CLU,missense_variant,p.Arg289Leu,ENST00000523500,;CLU,missense_variant,p.Arg289Leu,ENST00000405140,;CLU,missense_variant,p.Arg255Leu,ENST00000523589,;CLU,missense_variant,p.Arg152Leu,ENST00000522098,;CLU,downstream_gene_variant,,ENST00000519472,;CLU,downstream_gene_variant,,ENST00000519742,;CLU,downstream_gene_variant,,ENST00000520491,;CLU,downstream_gene_variant,,ENST00000520796,;CLU,upstream_gene_variant,,ENST00000521770,;CLU,downstream_gene_variant,,ENST00000522413,;CLU,downstream_gene_variant,,ENST00000523396,;CLU,downstream_gene_variant,,ENST00000560566,;CLU,non_coding_transcript_exon_variant,,ENST00000522299,;CLU,non_coding_transcript_exon_variant,,ENST00000522502,;CLU,downstream_gene_variant,,ENST00000518050,; A ENSG00000120885 ENST00000316403 Transcript missense_variant 1272/3080 866/1350 289/449 R/L cGc/cTc COSM5485011 1 -1 CLU HGNC HGNC:2095 protein_coding YES CCDS47832.1 ENSP00000315130 P10909 UPI0000127BA6 NM_001831.3 deleterious(0) probably_damaging(0.999) 6/9 Gene3D:1.20.58.60,Pfam_domain:PF01093,PIRSF_domain:PIRSF002368,hmmpanther:PTHR10970,hmmpanther:PTHR10970:SF1,SMART_domains:SM00035 1 MODERATE 1 SNV 1 1 PASS GCG . . 27604359 CLU . GRCh38 chr8 27604398 27604398 + Splice_Region SNP G G C novel 7316-2156 BS_H9813KRS G G c.830-3C>G ENST00000316403 110 99 7 35 35 0 CLU,splice_region_variant,,ENST00000316403,NM_001831.3;CLU,splice_region_variant,,ENST00000405140,;CLU,splice_region_variant,,ENST00000522098,;CLU,splice_region_variant,,ENST00000523500,;CLU,splice_region_variant,,ENST00000523589,;CLU,splice_region_variant,,ENST00000560566,;CLU,downstream_gene_variant,,ENST00000519472,;CLU,downstream_gene_variant,,ENST00000519742,;CLU,downstream_gene_variant,,ENST00000520491,;CLU,downstream_gene_variant,,ENST00000520796,;CLU,upstream_gene_variant,,ENST00000521770,;CLU,downstream_gene_variant,,ENST00000522413,;CLU,downstream_gene_variant,,ENST00000523396,;CLU,splice_region_variant,,ENST00000522299,;CLU,splice_region_variant,,ENST00000522502,;CLU,downstream_gene_variant,,ENST00000518050,; C ENSG00000120885 ENST00000316403 Transcript splice_region_variant,intron_variant 1 -1 CLU HGNC HGNC:2095 protein_coding YES CCDS47832.1 ENSP00000315130 P10909 UPI0000127BA6 NM_001831.3 5/8 LOW 1 SNV 1 PASS TGG . . 27604398 ANK1 . GRCh38 chr8 41668323 41668323 + Nonsense_Mutation SNP G G A novel 7316-2156 BS_H9813KRS G G c.5461C>T p.Gln1821Ter p.Q1821* ENST00000265709 40/43 103 85 13 34 34 0 ANK1,stop_gained,p.Gln1821Ter,ENST00000265709,NM_001142446.1;ANK1,stop_gained,p.Gln1780Ter,ENST00000289734,NM_000037.3;ANK1,stop_gained,p.Gln1780Ter,ENST00000347528,NM_020477.2,NM_020475.2,NM_020476.2;ANK1,stop_gained,p.Gln940Ter,ENST00000520299,;ANK1,stop_gained,p.Gln452Ter,ENST00000645531,;ANK1,upstream_gene_variant,,ENST00000314214,NM_020478.4;ANK1,upstream_gene_variant,,ENST00000335651,;ANK1,upstream_gene_variant,,ENST00000348036,NM_020480.4;ANK1,upstream_gene_variant,,ENST00000522231,;ANK1,upstream_gene_variant,,ENST00000522543,NM_001142445.1;AC113133.1,downstream_gene_variant,,ENST00000520418,;AC113133.1,downstream_gene_variant,,ENST00000522388,;AC113133.1,downstream_gene_variant,,ENST00000585088,;ANK1,upstream_gene_variant,,ENST00000518715,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,downstream_gene_variant,,ENST00000518061,; A ENSG00000029534 ENST00000265709 Transcript stop_gained 5743/8478 5461/5694 1821/1897 Q/* Caa/Taa 1 -1 ANK1 HGNC HGNC:492 protein_coding YES CCDS47849.1 ENSP00000265709 P16157 UPI0000E4453A NM_001142446.1 40/43 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44564 HIGH 1 SNV 1 1 PASS TGC . . 41668323 RP1 . GRCh38 chr8 54621391 54621391 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.425T>G p.Val142Gly p.V142G ENST00000220676 2/4 122 106 14 36 34 1 RP1,missense_variant,p.Val142Gly,ENST00000220676,NM_006269.1;RP1,missense_variant,p.Val142Gly,ENST00000637698,;RP1,missense_variant,p.Val142Gly,ENST00000636932,; G ENSG00000104237 ENST00000220676 Transcript missense_variant 573/7100 425/6471 142/2156 V/G gTa/gGa 1 1 RP1 HGNC HGNC:10263 protein_coding YES CCDS6160.1 ENSP00000220676 P56715 UPI000013455B NM_006269.1 tolerated(0.07) benign(0.007) 2/4 hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF4,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTA . . 54621391 FAM110B . GRCh38 chr8 57994809 57994809 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.-628+3A>C ENST00000361488 83 65 12 33 33 0 FAM110B,splice_region_variant,,ENST00000361488,NM_147189.2;FAM110B,splice_region_variant,,ENST00000519262,;FAM110B,splice_region_variant,,ENST00000520369,;,regulatory_region_variant,,ENSR00000224869,; C ENSG00000169122 ENST00000361488 Transcript splice_region_variant,intron_variant 1 1 FAM110B HGNC HGNC:28587 protein_coding YES CCDS6170.1 ENSP00000355204 Q8TC76 A0A024R7V5 UPI000006E853 NM_147189.2 1/4 LOW 1 SNV 2 PASS TAA . . 57994809 TCF24 . GRCh38 chr8 66962331 66962331 + Splice_Region SNP T T G novel 7316-2156 BS_H9813KRS T T c.-137A>C ENST00000563496 1/4 149 125 17 28 27 0 TCF24,splice_region_variant,,ENST00000563496,NM_001193502.1;PPP1R42,downstream_gene_variant,,ENST00000522909,;PPP1R42,downstream_gene_variant,,ENST00000519987,;PPP1R42,downstream_gene_variant,,ENST00000521040,;PPP1R42,downstream_gene_variant,,ENST00000521410,;PPP1R42,downstream_gene_variant,,ENST00000521998,;PPP1R42,downstream_gene_variant,,ENST00000522331,;,regulatory_region_variant,,ENSR00000225454,; G ENSG00000261787 ENST00000563496 Transcript splice_region_variant,5_prime_UTR_variant 260/2450 1 -1 TCF24 HGNC HGNC:32275 protein_coding YES CCDS59103.1 ENSP00000455444 Q7RTU0 UPI0001A5E6AB NM_001193502.1 1/4 LOW 1 SNV 5 PASS TTT . . 66962331 HEY1 . GRCh38 chr8 79767578 79767578 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.86A>C p.Asn29Thr p.N29T ENST00000337919 1/5 87 73 12 25 25 0 HEY1,missense_variant,p.Asn29Thr,ENST00000337919,NM_001040708.1;HEY1,missense_variant,p.Asn29Thr,ENST00000354724,NM_012258.3;HEY1,upstream_gene_variant,,ENST00000518733,;HEY1,upstream_gene_variant,,ENST00000523976,NM_001282851.1;AC036214.1,downstream_gene_variant,,ENST00000502766,;LINC01607,upstream_gene_variant,,ENST00000607172,;HEY1,upstream_gene_variant,,ENST00000435063,;HEY1,non_coding_transcript_exon_variant,,ENST00000519075,;HEY1,non_coding_transcript_exon_variant,,ENST00000521111,;HEY1,non_coding_transcript_exon_variant,,ENST00000523531,;,regulatory_region_variant,,ENSR00000331906,; G ENSG00000164683 ENST00000337919 Transcript missense_variant 280/2296 86/927 29/308 N/T aAt/aCt 1 -1 HEY1 HGNC HGNC:4880 protein_coding YES CCDS43749.1 ENSP00000338272 Q9Y5J3 UPI000014195F NM_001040708.1 tolerated(0.14) possibly_damaging(0.492) 1/5 mobidb-lite,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF78 MODERATE 1 SNV 1 1 PASS ATT . . 79767578 TP53INP1 . GRCh38 chr8 94949152 94949152 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.-151+2T>G ENST00000342697 86 57 11 48 45 0 TP53INP1,splice_donor_variant,,ENST00000342697,NM_033285.3;TP53INP1,splice_donor_variant,,ENST00000448464,NM_001135733.1;NDUFAF6,intron_variant,,ENST00000396113,;NDUFAF6,intron_variant,,ENST00000519136,;NDUFAF6,intron_variant,,ENST00000523378,;AC087752.3,upstream_gene_variant,,ENST00000519034,;AC087752.3,upstream_gene_variant,,ENST00000523905,;,regulatory_region_variant,,ENSR00000227234,; C ENSG00000164938 ENST00000342697 Transcript splice_donor_variant 1 -1 TP53INP1 HGNC HGNC:18022 protein_coding YES CCDS6265.1 ENSP00000344215 Q96A56 A0A024R9C8 UPI00000725F8 NM_033285.3 1/3 HIGH 1 SNV 1 PASS TAC . . 94949152 TRAPPC9 . GRCh38 chr8 139731150 139731150 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.3652T>G p.Phe1218Val p.F1218V ENST00000389328 23/23 124 115 6 41 41 0 TRAPPC9,missense_variant,p.Phe1218Val,ENST00000389328,NM_031466.7;TRAPPC9,missense_variant,p.Phe1120Val,ENST00000438773,NM_001160372.3;TRAPPC9,missense_variant,p.Phe964Val,ENST00000520857,NM_001321646.1;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000521667,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000522504,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000519482,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000521700,;TRAPPC9,downstream_gene_variant,,ENST00000523777,;TRAPPC9,downstream_gene_variant,,ENST00000524162,; C ENSG00000167632 ENST00000389328 Transcript missense_variant 3667/4474 3652/3741 1218/1246 F/V Ttc/Gtc 1 -1 TRAPPC9 HGNC HGNC:30832 protein_coding YES CCDS34946.1 ENSP00000373979 Q96Q05 UPI0000DBEF2B NM_031466.7 tolerated(1) benign(0.298) 23/23 hmmpanther:PTHR21512 MODERATE 1 SNV 2 1 PASS AAC . . 139731150 ZNF696 . GRCh38 chr8 143296489 143296489 + Missense_Mutation SNP C C A rs1345415296 7316-2156 BS_H9813KRS C C c.814C>A p.Gln272Lys p.Q272K ENST00000330143 3/3 119 98 14 45 43 0 ZNF696,missense_variant,p.Gln272Lys,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; A ENSG00000185730 ENST00000330143 Transcript missense_variant 1223/2795 814/1125 272/374 Q/K Cag/Aag rs1345415296 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 tolerated(1) benign(0.001) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CCA . . 143296489 PLEC . GRCh38 chr8 143921326 143921326 + Missense_Mutation SNP C C T rs6558407 7316-2156 BS_H9813KRS C C c.8906G>A p.Arg2969His p.R2969H ENST00000322810 32/32 137 122 11 45 45 0 PLEC,missense_variant,p.Arg2969His,ENST00000322810,NM_201380.3;PLEC,missense_variant,p.Arg2832His,ENST00000345136,NM_201384.2;PLEC,missense_variant,p.Arg2859His,ENST00000436759,NM_000445.4;PLEC,missense_variant,p.Arg2810His,ENST00000354958,NM_201379.2;PLEC,missense_variant,p.Arg2832His,ENST00000354589,NM_201382.3;PLEC,missense_variant,p.Arg2836His,ENST00000357649,NM_201383.2;PLEC,missense_variant,p.Arg2818His,ENST00000356346,NM_201378.3;PLEC,missense_variant,p.Arg2800His,ENST00000398774,NM_201381.2;PLEC,missense_variant,p.Arg2855His,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;,regulatory_region_variant,,ENSR00000232169,; T ENSG00000178209 ENST00000322810 Transcript missense_variant 9076/15249 8906/14055 2969/4684 R/H cGc/cAc rs6558407,COSM3763125,COSM3763126,COSM3763127,COSM3763128,COSM3763129,COSM3763130,COSM4785191 1 -1 PLEC HGNC HGNC:9069 protein_coding YES CCDS43772.1 ENSP00000323856 Q15149 UPI0000233FCD NM_201380.3 tolerated(0.06) benign(0.007) 32/32 Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2,SMART_domains:SM00250,Superfamily_domains:SSF75399 0.2306 0.028 0.2939 0.1419 0.4294 0.3466 0.09232 0.4117 0,1,1,1,1,1,1,1 25741868,24033266,23757202,21935354 MODERATE 1 SNV 1 1,1,1,1,1,1,1,1 1 PASS GCG . . 0.3458 0.07443 0.2423 0.4624 0.144 0.4032 0.4178 0.3916 0.3581 143921326 PLEC . GRCh38 chr8 143921861 143921861 + Missense_Mutation SNP A A G rs7833924 7316-2156 BS_H9813KRS A A c.8371T>C p.Ser2791Pro p.S2791P ENST00000322810 32/32 172 146 22 39 36 0 PLEC,missense_variant,p.Ser2791Pro,ENST00000322810,NM_201380.3;PLEC,missense_variant,p.Ser2654Pro,ENST00000345136,NM_201384.2;PLEC,missense_variant,p.Ser2681Pro,ENST00000436759,NM_000445.4;PLEC,missense_variant,p.Ser2632Pro,ENST00000354958,NM_201379.2;PLEC,missense_variant,p.Ser2654Pro,ENST00000354589,NM_201382.3;PLEC,missense_variant,p.Ser2658Pro,ENST00000357649,NM_201383.2;PLEC,missense_variant,p.Ser2640Pro,ENST00000356346,NM_201378.3;PLEC,missense_variant,p.Ser2622Pro,ENST00000398774,NM_201381.2;PLEC,missense_variant,p.Ser2677Pro,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;,regulatory_region_variant,,ENSR00000232169,; G ENSG00000178209 ENST00000322810 Transcript missense_variant 8541/15249 8371/14055 2791/4684 S/P Tca/Cca rs7833924,COSM1489102,COSM3750078,COSM3750079,COSM3750080,COSM454186,COSM454187,COSM4785156 1 -1 PLEC HGNC HGNC:9069 protein_coding YES CCDS43772.1 ENSP00000323856 Q15149 UPI0000233FCD NM_201380.3 tolerated(1) benign(0) 32/32 Gene3D:3.90.1290.10,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2,Superfamily_domains:SSF75399 0.4667 0.8775 0.3674 0.1429 0.4354 0.3476 0.826 0.4309 0,1,1,1,1,1,1,1 25741868,24033266,23757202 MODERATE 1 SNV 1 1,1,1,1,1,1,1,1 1 PASS GAC . . 0.3982 0.835 0.2797 0.4725 0.1435 0.4038 0.4224 0.4262 0.3592 143921861 PLEC . GRCh38 chr8 143926863 143926863 + Missense_Mutation SNP T T C rs55895668 7316-2156 BS_H9813KRS T T c.4376A>G p.His1459Arg p.H1459R ENST00000322810 30/32 140 124 8 34 34 0 PLEC,missense_variant,p.His1459Arg,ENST00000322810,NM_201380.3;PLEC,missense_variant,p.His1322Arg,ENST00000345136,NM_201384.2;PLEC,missense_variant,p.His1349Arg,ENST00000436759,NM_000445.4;PLEC,missense_variant,p.His1300Arg,ENST00000354958,NM_201379.2;PLEC,missense_variant,p.His1322Arg,ENST00000354589,NM_201382.3;PLEC,missense_variant,p.His1326Arg,ENST00000357649,NM_201383.2;PLEC,missense_variant,p.His1308Arg,ENST00000356346,NM_201378.3;PLEC,missense_variant,p.His1290Arg,ENST00000398774,NM_201381.2;PLEC,missense_variant,p.His1345Arg,ENST00000527096,;PLEC,missense_variant,p.His19Arg,ENST00000527303,;,regulatory_region_variant,,ENSR00000232169,; C ENSG00000178209 ENST00000322810 Transcript missense_variant 4546/15249 4376/14055 1459/4684 H/R cAc/cGc rs55895668,COSM150562,COSM150563,COSM3763170,COSM3763171,COSM3763172,COSM3763173,COSM4785121 1 -1 PLEC HGNC HGNC:9069 protein_coding YES CCDS43772.1 ENSP00000323856 Q15149 UPI0000233FCD NM_201380.3 tolerated(1) benign(0) 30/32 Gene3D:1.20.58.60,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2,SMART_domains:SM00150,Superfamily_domains:SSF46966 0.4667 0.8782 0.3674 0.1429 0.4344 0.3476 0.8228 0.4294 0,1,1,1,1,1,1,1 25741868,24033266 MODERATE 1 SNV 1 0,1,1,1,1,1,1,1 1 PASS GTG . . 0.4026 0.8351 0.2802 0.4717 0.145 0.4052 0.4244 0.4304 0.3585 143926863 PLEC . GRCh38 chr8 143927420 143927420 + Missense_Mutation SNP C C T rs11136334 7316-2156 BS_H9813KRS C C c.4157G>A p.Arg1386Gln p.R1386Q ENST00000322810 27/32 119 107 6 39 39 0 PLEC,missense_variant,p.Arg1386Gln,ENST00000322810,NM_201380.3;PLEC,missense_variant,p.Arg1249Gln,ENST00000345136,NM_201384.2;PLEC,missense_variant,p.Arg1276Gln,ENST00000436759,NM_000445.4;PLEC,missense_variant,p.Arg1227Gln,ENST00000354958,NM_201379.2;PLEC,missense_variant,p.Arg1249Gln,ENST00000354589,NM_201382.3;PLEC,missense_variant,p.Arg1253Gln,ENST00000357649,NM_201383.2;PLEC,missense_variant,p.Arg1235Gln,ENST00000356346,NM_201378.3;PLEC,missense_variant,p.Arg1217Gln,ENST00000398774,NM_201381.2;PLEC,missense_variant,p.Arg1272Gln,ENST00000527096,;PLEC,upstream_gene_variant,,ENST00000527303,;PLEC,downstream_gene_variant,,ENST00000528025,;,regulatory_region_variant,,ENSR00000232169,; T ENSG00000178209 ENST00000322810 Transcript missense_variant 4327/15249 4157/14055 1386/4684 R/Q cGg/cAg rs11136334,COSM1489106,COSM3750111,COSM3750112,COSM3750113,COSM454196,COSM454197,COSM4767693 1 -1 PLEC HGNC HGNC:9069 protein_coding YES CCDS43772.1 ENSP00000323856 Q15149 UPI0000233FCD NM_201380.3 tolerated(0.27) benign(0) 27/32 Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2,SMART_domains:SM00150,Superfamily_domains:SSF46966,cd00176,Low_complexity_(Seg):seg 0.2308 0.028 0.2954 0.1429 0.4274 0.3476 0.09552 0.4113 0,1,1,1,1,1,1,1 25741868,24033266,23757202 MODERATE 1 SNV 1 0,1,1,1,1,1,1,1 1 PASS CCG . . 0.3432 0.0757 0.24 0.4639 0.1452 0.4129 0.4171 0.3885 0.358 143927420 PLEC . GRCh38 chr8 143933019 143933019 + Missense_Mutation SNP G G A rs11136336 7316-2156 BS_H9813KRS G G c.1922C>T p.Ala641Val p.A641V ENST00000322810 14/32 161 145 8 49 48 0 PLEC,missense_variant,p.Ala641Val,ENST00000322810,NM_201380.3;PLEC,missense_variant,p.Ala504Val,ENST00000345136,NM_201384.2;PLEC,missense_variant,p.Ala531Val,ENST00000436759,NM_000445.4;PLEC,missense_variant,p.Ala482Val,ENST00000354958,NM_201379.2;PLEC,missense_variant,p.Ala504Val,ENST00000354589,NM_201382.3;PLEC,missense_variant,p.Ala508Val,ENST00000357649,NM_201383.2;PLEC,missense_variant,p.Ala490Val,ENST00000356346,NM_201378.3;PLEC,missense_variant,p.Ala472Val,ENST00000398774,NM_201381.2;PLEC,missense_variant,p.Ala527Val,ENST00000527096,;PLEC,missense_variant,p.Ala548Val,ENST00000528025,;PLEC,downstream_gene_variant,,ENST00000526416,;PLEC,downstream_gene_variant,,ENST00000527816,;PLEC,downstream_gene_variant,,ENST00000528131,;PLEC,downstream_gene_variant,,ENST00000532346,;,regulatory_region_variant,,ENSR00000232170,; A ENSG00000178209 ENST00000322810 Transcript missense_variant 2092/15249 1922/14055 641/4684 A/V gCc/gTc rs11136336,COSM3763174,COSM3763175,COSM3763176,COSM3763177,COSM3763178,COSM3763179,COSM4785220 1 -1 PLEC HGNC HGNC:9069 protein_coding YES CCDS43772.1 ENSP00000323856 Q15149 UPI0000233FCD NM_201380.3 tolerated(0.25) benign(0) 14/32 Gene3D:1.20.58.60,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2,Low_complexity_(Seg):seg 0.2314 0.0605 0.2867 0.1399 0.4066 0.3374 0.1029 0.3791 0,1,1,1,1,1,1,1 25741868,24033266,20482829 MODERATE 1 SNV 1 0,1,1,1,1,1,1,1 1 PASS GGC . . 0.3318 0.09214 0.233 0.4621 0.1527 0.3937 0.3937 0.3742 0.3432 143933019 RPL8 . GRCh38 chr8 144792144 144792144 + Splice_Region SNP G G T rs539526118 7316-2156 BS_H9813KRS G G c.-11-4C>A ENST00000262584 128 119 7 29 28 0 RPL8,splice_region_variant,,ENST00000262584,NM_000973.4;RPL8,splice_region_variant,,ENST00000394920,NM_001317771.1,NM_033301.2;RPL8,splice_region_variant,,ENST00000527914,;RPL8,splice_region_variant,,ENST00000532702,;RPL8,5_prime_UTR_variant,,ENST00000528957,NM_001317782.1;RPL8,5_prime_UTR_variant,,ENST00000533397,;ZNF34,upstream_gene_variant,,ENST00000343459,NM_030580.4;ZNF34,upstream_gene_variant,,ENST00000429371,NM_001286769.1;ZNF34,upstream_gene_variant,,ENST00000534445,NM_001286770.1;MIR6850,upstream_gene_variant,,ENST00000612162,;RPL8,intron_variant,,ENST00000529163,;RPL8,upstream_gene_variant,,ENST00000528296,;RPL8,splice_region_variant,,ENST00000525232,;RPL8,splice_region_variant,,ENST00000531767,;RPL8,upstream_gene_variant,,ENST00000526668,;ZNF34,upstream_gene_variant,,ENST00000527740,;RPL8,upstream_gene_variant,,ENST00000529920,;RPL8,upstream_gene_variant,,ENST00000531975,;RPL8,upstream_gene_variant,,ENST00000534781,;,regulatory_region_variant,,ENSR00000232292,; T ENSG00000161016 ENST00000262584 Transcript splice_region_variant,intron_variant rs539526118 1 -1 RPL8 HGNC HGNC:10368 protein_coding YES CCDS6433.1 ENSP00000262584 P62917 UPI000000419E NM_000973.4 1/5 LOW 1 SNV 1 PASS GGG . . 144792144 RPS6 . GRCh38 chr9 19378921 19378921 + Splice_Region SNP G G T rs879094654 7316-2156 BS_H9813KRS G G c.139-3C>A ENST00000380394 146 100 22 33 31 0 RPS6,splice_region_variant,,ENST00000315377,;RPS6,splice_region_variant,,ENST00000380384,;RPS6,splice_region_variant,,ENST00000380394,NM_001010.2;RPS6,3_prime_UTR_variant,,ENST00000380381,;AL391834.2,downstream_gene_variant,,ENST00000609982,;RPS6,upstream_gene_variant,,ENST00000498815,;,regulatory_region_variant,,ENSR00000233731,;NDUFA5P3,downstream_gene_variant,,ENST00000449348,; T ENSG00000137154 ENST00000380394 Transcript splice_region_variant,intron_variant rs879094654 1 -1 RPS6 HGNC HGNC:10429 protein_coding YES CCDS6492.1 ENSP00000369757 P62753 A2A3R6 UPI00000018E3 NM_001010.2 2/5 LOW 1 SNV 1 PASS TGC . . 19378921 VCP . GRCh38 chr9 35059649 35059650 + Frame_Shift_Ins INS - - T rs751290466 7316-2156 BS_H9813KRS - - c.1847dup p.Asn616LysfsTer12 p.N616Kfs*12 ENST00000358901 14/17 115 99 8 47 44 0 VCP,frameshift_variant,p.Asn616LysfsTer12,ENST00000358901,NM_007126.3;VCP,downstream_gene_variant,,ENST00000448530,;VCP,non_coding_transcript_exon_variant,,ENST00000493886,;VCP,non_coding_transcript_exon_variant,,ENST00000479300,;VCP,upstream_gene_variant,,ENST00000466100,;VCP,downstream_gene_variant,,ENST00000480327,; T ENSG00000165280 ENST00000358901 Transcript frameshift_variant 2743-2744/4370 1847-1848/2421 616/806 N/KX aat/aaAt rs751290466 1 -1 VCP HGNC HGNC:12666 protein_coding YES CCDS6573.1 ENSP00000351777 P55072 V9HW80 UPI000005FB2E NM_007126.3 14/17 PDB-ENSP_mappings:5c18.A,PDB-ENSP_mappings:5c18.B,PDB-ENSP_mappings:5c18.C,PDB-ENSP_mappings:5c18.D,PDB-ENSP_mappings:5c18.E,PDB-ENSP_mappings:5c18.F,PDB-ENSP_mappings:5c19.A,PDB-ENSP_mappings:5c19.B,PDB-ENSP_mappings:5c19.C,PDB-ENSP_mappings:5c19.D,PDB-ENSP_mappings:5c19.E,PDB-ENSP_mappings:5c19.F,PDB-ENSP_mappings:5c1a.A,PDB-ENSP_mappings:5c1a.B,PDB-ENSP_mappings:5c1a.C,PDB-ENSP_mappings:5c1a.D,PDB-ENSP_mappings:5c1a.E,PDB-ENSP_mappings:5c1a.F,PDB-ENSP_mappings:5c1a.G,PDB-ENSP_mappings:5c1a.H,PDB-ENSP_mappings:5c1a.I,PDB-ENSP_mappings:5c1a.J,PDB-ENSP_mappings:5c1a.K,PDB-ENSP_mappings:5c1a.L,PDB-ENSP_mappings:5c1b.A,PDB-ENSP_mappings:5c1b.B,PDB-ENSP_mappings:5c1b.C,PDB-ENSP_mappings:5c1b.D,PDB-ENSP_mappings:5c1b.E,PDB-ENSP_mappings:5c1b.F,PDB-ENSP_mappings:5ftj.A,PDB-ENSP_mappings:5ftj.B,PDB-ENSP_mappings:5ftj.C,PDB-ENSP_mappings:5ftj.D,PDB-ENSP_mappings:5ftj.E,PDB-ENSP_mappings:5ftj.F,PDB-ENSP_mappings:5ftk.A,PDB-ENSP_mappings:5ftk.B,PDB-ENSP_mappings:5ftk.C,PDB-ENSP_mappings:5ftk.D,PDB-ENSP_mappings:5ftk.E,PDB-ENSP_mappings:5ftk.F,PDB-ENSP_mappings:5ftl.A,PDB-ENSP_mappings:5ftl.B,PDB-ENSP_mappings:5ftl.C,PDB-ENSP_mappings:5ftl.D,PDB-ENSP_mappings:5ftl.E,PDB-ENSP_mappings:5ftl.F,PDB-ENSP_mappings:5ftm.A,PDB-ENSP_mappings:5ftm.B,PDB-ENSP_mappings:5ftm.C,PDB-ENSP_mappings:5ftm.D,PDB-ENSP_mappings:5ftm.E,PDB-ENSP_mappings:5ftm.F,PDB-ENSP_mappings:5ftn.A,PDB-ENSP_mappings:5ftn.B,PDB-ENSP_mappings:5ftn.C,PDB-ENSP_mappings:5ftn.D,PDB-ENSP_mappings:5ftn.E,PDB-ENSP_mappings:5ftn.F,PDB-ENSP_mappings:5ifw.B,cd00009,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF69,TIGRFAM_domain:TIGR01243,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540 HIGH 1 insertion 1 1 PASS CAT . . 4.428e-06 4.86e-05 35059649 SECISBP2 . GRCh38 chr9 89318615 89318615 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.36+3A>C ENST00000375807 117 99 14 36 36 0 SECISBP2,splice_region_variant,,ENST00000339901,NM_001282689.1;SECISBP2,splice_region_variant,,ENST00000375807,NM_024077.4,NM_001282688.1;CKS2,downstream_gene_variant,,ENST00000314355,NM_001827.2;SECISBP2,upstream_gene_variant,,ENST00000534113,NM_001282690.1;SECISBP2,upstream_gene_variant,,ENST00000470305,;,regulatory_region_variant,,ENSR00000237493,; C ENSG00000187742 ENST00000375807 Transcript splice_region_variant,intron_variant 1 1 SECISBP2 HGNC HGNC:30972 protein_coding YES CCDS6683.1 ENSP00000364965 Q96T21 UPI00001AEA0A NM_024077.4,NM_001282688.1 1/16 LOW 1 SNV 1 1 PASS TAA . . 89318615 BICD2 . GRCh38 chr9 92719467 92719467 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.1178A>C p.Asn393Thr p.N393T ENST00000356884 5/7 113 97 13 30 29 0 BICD2,missense_variant,p.Asn393Thr,ENST00000356884,NM_001003800.1;BICD2,missense_variant,p.Asn393Thr,ENST00000375512,NM_015250.3; G ENSG00000185963 ENST00000356884 Transcript missense_variant 1246/6427 1178/2568 393/855 N/T aAt/aCt 1 -1 BICD2 HGNC HGNC:17208 protein_coding YES CCDS35064.1 ENSP00000349351 Q8TD16 UPI00001BBAF1 NM_001003800.1 tolerated(0.14) benign(0.012) 5/7 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31233:SF7,hmmpanther:PTHR31233,Pfam_domain:PF09730,Gene3D:1.20.140.50 MODERATE 1 SNV 1 1 PASS ATT . . 92719467 FRRS1L . GRCh38 chr9 109166951 109166951 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.341A>C p.Tyr114Ser p.Y114S ENST00000561981 1/5 66 56 9 22 21 0 FRRS1L,missense_variant,p.Tyr114Ser,ENST00000561981,NM_014334.2;FRRS1L,missense_variant,p.Tyr18Ser,ENST00000644747,;FRRS1L,upstream_gene_variant,,ENST00000642299,; G ENSG00000260230 ENST00000561981 Transcript missense_variant 345/8201 341/1035 114/344 Y/S tAc/tCc 1 -1 FRRS1L HGNC HGNC:1362 protein_coding YES CCDS35098.1 ENSP00000477141 Q9P0K9 UPI000013D040 NM_014334.2 deleterious_low_confidence(0.04) possibly_damaging(0.86) 1/5 hmmpanther:PTHR23130,hmmpanther:PTHR23130:SF65 MODERATE 1 SNV 1 1 PASS GTA . . 109166951 SUSD1 . GRCh38 chr9 112175135 112175135 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.101A>C p.Asp34Ala p.D34A ENST00000374264 1/18 68 55 9 38 38 0 SUSD1,missense_variant,p.Asp34Ala,ENST00000374270,NM_022486.4;SUSD1,missense_variant,p.Asp34Ala,ENST00000374263,NM_001282643.1;SUSD1,missense_variant,p.Asp18Ala,ENST00000355396,;SUSD1,missense_variant,p.Asp34Ala,ENST00000374264,NM_001282640.1;,regulatory_region_variant,,ENSR00000239933,;AL158824.1,upstream_gene_variant,,ENST00000451825,; G ENSG00000106868 ENST00000374264 Transcript missense_variant,splice_region_variant 133/2754 101/2274 34/757 D/A gAc/gCc 1 -1 SUSD1 HGNC HGNC:25413 protein_coding YES CCDS65106.1 ENSP00000363382 Q6UWL2 UPI0000D618EE NM_001282640.1 deleterious(0.02) benign(0) 1/18 hmmpanther:PTHR24051,hmmpanther:PTHR24051:SF5,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTC . . 112175135 RGS3 . GRCh38 chr9 113594533 113594533 + Splice_Site SNP T T C rs1375191481 7316-2156 BS_H9813KRS T T c.3182+2T>C p.X1061_splice ENST00000374140 99 80 6 38 37 0 RGS3,splice_donor_variant,,ENST00000342620,NM_001276262.1,NM_134427.2;RGS3,splice_donor_variant,,ENST00000343817,NM_130795.3;RGS3,splice_donor_variant,,ENST00000350696,NM_001282923.1;RGS3,splice_donor_variant,,ENST00000374134,NM_001282922.1;RGS3,splice_donor_variant,,ENST00000374140,NM_144488.5;RGS3,splice_donor_variant,,ENST00000394646,NM_001276261.1;RGS3,splice_donor_variant,,ENST00000462143,NM_001322215.1,NM_001276260.1;RGS3,splice_donor_variant,,ENST00000462403,;RGS3,splice_donor_variant,,ENST00000467805,;RGS3,splice_donor_variant,,ENST00000613049,NM_144489.3;RGS3,splice_donor_variant,,ENST00000620489,;AL162727.2,upstream_gene_variant,,ENST00000428429,;RGS3,splice_donor_variant,,ENST00000496275,;RGS3,splice_donor_variant,,ENST00000478599,;RGS3,splice_donor_variant,,ENST00000487344,;RGS3,splice_donor_variant,,ENST00000497435,;RGS3,downstream_gene_variant,,ENST00000485822,;RGS3,downstream_gene_variant,,ENST00000488620,;RGS3,upstream_gene_variant,,ENST00000490241,;,regulatory_region_variant,,ENSR00000240129,; C ENSG00000138835 ENST00000374140 Transcript splice_donor_variant rs1375191481 1 1 RGS3 HGNC HGNC:9999 protein_coding YES CCDS43869.1 ENSP00000363255 P49796 UPI00001C0F58 NM_144488.5 23/25 HIGH 1 SNV 2 PASS GTA . . 4.075e-06 2.982e-05 113594533 AMBP . GRCh38 chr9 114069748 114069748 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.557-3T>G ENST00000265132 103 92 10 42 42 0 AMBP,splice_region_variant,,ENST00000265132,NM_001633.3;AMBP,splice_region_variant,,ENST00000466610,;AMBP,stop_lost,p.Ter239GluextTer14,ENST00000603230,;AMBP,splice_region_variant,,ENST00000540645,; C ENSG00000106927 ENST00000265132 Transcript splice_region_variant,intron_variant 1 -1 AMBP HGNC HGNC:453 protein_coding YES CCDS6800.1 ENSP00000265132 P02760 UPI000000D9AF NM_001633.3 5/9 LOW 1 SNV 1 PASS TAG . . 114069748 COL27A1 . GRCh38 chr9 114169165 114169165 + Missense_Mutation SNP T T C rs2808770 7316-2156 BS_H9813KRS T T c.1610T>C p.Ile537Thr p.I537T ENST00000356083 3/61 111 100 6 39 39 0 COL27A1,missense_variant,p.Ile537Thr,ENST00000356083,NM_032888.3;COL27A1,missense_variant,p.Ile484Thr,ENST00000451716,;COL27A1,missense_variant,p.Ile187Thr,ENST00000494090,; C ENSG00000196739 ENST00000356083 Transcript missense_variant 2001/7790 1610/5583 537/1860 I/T aTt/aCt rs2808770 1 1 COL27A1 HGNC HGNC:22986 protein_coding YES CCDS6802.1 ENSP00000348385 Q8IZC6 UPI0000062271 NM_032888.3 benign(0) 3/61 mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF844 0.2179 0.3048 0.183 0.1339 0.2992 0.1278 0.3103 0.2801 MODERATE 1 SNV 1 1 PASS ATT . . 0.2391 0.3134 0.1479 0.4375 0.1604 0.2461 0.2708 0.2738 0.1562 114169165 TNC . GRCh38 chr9 115046506 115046506 + Missense_Mutation SNP T T A rs2104772 7316-2156 BS_H9813KRS T T c.5029A>T p.Ile1677Leu p.I1677L ENST00000350763 17/28 112 97 6 41 41 0 TNC,missense_variant,p.Ile1677Leu,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Ile1314Leu,ENST00000535648,;TNC,missense_variant,p.Ile1495Leu,ENST00000341037,;TNC,missense_variant,p.Ile1314Leu,ENST00000542877,;TNC,missense_variant,p.Ile240Leu,ENST00000544972,;TNC,intron_variant,,ENST00000423613,;TNC,intron_variant,,ENST00000537320,;TNC,downstream_gene_variant,,ENST00000635336,;TNC,non_coding_transcript_exon_variant,,ENST00000473855,;TNC,intron_variant,,ENST00000476680,;TNC,intron_variant,,ENST00000498724,;TNC,downstream_gene_variant,,ENST00000481475,; A ENSG00000041982 ENST00000350763 Transcript missense_variant 5441/7641 5029/6606 1677/2201 I/L Ata/Tta rs2104772,CM053428,COSM3763573 1 -1 TNC HGNC HGNC:5318 protein_coding YES CCDS6811.1 ENSP00000265131 P24821 UPI000013D5BD NM_002160.3 tolerated(0.88) benign(0.031) 17/28 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF38,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 0.4810 0.6006 0.4755 0.4514 0.4503 0.3855 0.5633 0.4308 0,0,1 23890452,21298289,23192621,24324885,28523640,28856171,29311951,29616222 MODERATE 1 SNV 1 0,1,1 1 PASS ATG . . 0.4366 0.5614 0.4171 0.4152 0.4324 0.4734 0.4295 0.4513 0.4016 115046506 MEGF9 . GRCh38 chr9 120714240 120714240 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.119A>C p.Asn40Thr p.N40T ENST00000373930 1/6 83 66 11 41 38 0 MEGF9,missense_variant,p.Asn40Thr,ENST00000373930,NM_001080497.2;,regulatory_region_variant,,ENSR00000240796,; G ENSG00000106780 ENST00000373930 Transcript missense_variant 231/6298 119/1809 40/602 N/T aAt/aCt 1 -1 MEGF9 HGNC HGNC:3234 protein_coding YES CCDS48010.2 ENSP00000363040 Q9H1U4 UPI000045779F NM_001080497.2 deleterious_low_confidence(0) benign(0.221) 1/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF298 MODERATE 1 SNV 2 PASS ATT . . 120714240 FBXW2 . GRCh38 chr9 120771507 120771507 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.917T>G p.Ile306Ser p.I306S ENST00000608872 7/8 108 98 9 38 37 0 FBXW2,missense_variant,p.Ile306Ser,ENST00000608872,NM_012164.3;FBXW2,missense_variant,p.Ile177Ser,ENST00000453291,;FBXW2,non_coding_transcript_exon_variant,,ENST00000493559,;FBXW2,downstream_gene_variant,,ENST00000474117,; C ENSG00000119402 ENST00000608872 Transcript missense_variant 1105/9138 917/1365 306/454 I/S aTt/aGt 1 -1 FBXW2 HGNC HGNC:13608 protein_coding YES CCDS43872.1 ENSP00000476369 Q9UKT8 UPI000006FE3A NM_012164.3 tolerated(0.13) benign(0.137) 7/8 cd00200,Gene3D:2.130.10.10,Superfamily_domains:SSF50978,PROSITE_profiles:PS50294,hmmpanther:PTHR44436 MODERATE 1 SNV 1 PASS AAT . . 120771507 TTLL11 . GRCh38 chr9 122092999 122092999 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.420A>C p.Glu140Asp p.E140D ENST00000321582 1/9 145 123 17 39 38 0 TTLL11,missense_variant,p.Glu140Asp,ENST00000321582,NM_001139442.1;TTLL11,missense_variant,p.Glu140Asp,ENST00000373776,NM_194252.2;TTLL11,upstream_gene_variant,,ENST00000487468,;TTLL11,missense_variant,p.Glu96Asp,ENST00000474723,;TTLL11,upstream_gene_variant,,ENST00000373778,;,regulatory_region_variant,,ENSR00000241010,; G ENSG00000175764 ENST00000321582 Transcript missense_variant 608/3250 420/2403 140/800 E/D gaA/gaC 1 -1 TTLL11 HGNC HGNC:18113 protein_coding YES CCDS48012.1 ENSP00000321346 Q8NHH1 UPI0000E0BF7B NM_001139442.1 tolerated_low_confidence(0.21) benign(0.006) 1/9 mobidb-lite,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF149 MODERATE 1 SNV 5 PASS GTT . . 122092999 TTLL11 . GRCh38 chr9 122093253 122093253 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.166A>C p.Thr56Pro p.T56P ENST00000321582 1/9 125 104 17 35 34 0 TTLL11,missense_variant,p.Thr56Pro,ENST00000321582,NM_001139442.1;TTLL11,missense_variant,p.Thr56Pro,ENST00000373776,NM_194252.2;TTLL11,upstream_gene_variant,,ENST00000487468,;TTLL11,missense_variant,p.Thr12Pro,ENST00000474723,;TTLL11,upstream_gene_variant,,ENST00000373778,;,regulatory_region_variant,,ENSR00000241010,; G ENSG00000175764 ENST00000321582 Transcript missense_variant 354/3250 166/2403 56/800 T/P Acg/Ccg 1 -1 TTLL11 HGNC HGNC:18113 protein_coding YES CCDS48012.1 ENSP00000321346 Q8NHH1 UPI0000E0BF7B NM_001139442.1 deleterious_low_confidence(0) benign(0.029) 1/9 Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTT . . 122093253 RPL12 . GRCh38 chr9 127451280 127451280 + Splice_Site SNP C C A novel 7316-2156 BS_H9813KRS C C c.37+1G>T p.X13_splice ENST00000361436 124 112 6 30 30 0 RPL12,splice_donor_variant,,ENST00000361436,NM_000976.3;RPL12,splice_donor_variant,,ENST00000536368,;LRSAM1,upstream_gene_variant,,ENST00000300417,NM_001005373.3;LRSAM1,upstream_gene_variant,,ENST00000323301,NM_138361.5;LRSAM1,upstream_gene_variant,,ENST00000373322,NM_001005374.3;LRSAM1,upstream_gene_variant,,ENST00000373324,NM_001190723.2;SNORA65,upstream_gene_variant,,ENST00000364432,;RPL12,non_coding_transcript_exon_variant,,ENST00000497322,;RPL12,non_coding_transcript_exon_variant,,ENST00000497825,;RPL12,upstream_gene_variant,,ENST00000483598,;LRSAM1,upstream_gene_variant,,ENST00000485704,;LRSAM1,upstream_gene_variant,,ENST00000486587,;,regulatory_region_variant,,ENSR00000241693,; A ENSG00000197958 ENST00000361436 Transcript splice_donor_variant 1 -1 RPL12 HGNC HGNC:10302 protein_coding YES CCDS6872.1 ENSP00000354739 P30050 UPI0000133BA8 NM_000976.3 1/6 HIGH 1 SNV 1 PASS ACC . . 127451280 FAM102A . GRCh38 chr9 127979990 127979990 + Splice_Site SNP A A C rs879181717 7316-2156 BS_H9813KRS A A c.146+2T>G p.X49_splice ENST00000373095 115 106 6 42 40 0 FAM102A,splice_donor_variant,,ENST00000373095,NM_001035254.2;FAM102A,splice_donor_variant,,ENST00000493175,;FAM102A,splice_donor_variant,,ENST00000494606,;,regulatory_region_variant,,ENSR00000241788,; C ENSG00000167106 ENST00000373095 Transcript splice_donor_variant rs879181717 1 -1 FAM102A HGNC HGNC:31419 protein_coding YES CCDS35150.1 ENSP00000362187 Q5T9C2 UPI00005D3C96 NM_001035254.2 1/10 HIGH 1 SNV 5 PASS TAC . . 127979990 SH3GLB2 . GRCh38 chr9 129012258 129012258 + Missense_Mutation SNP A A C 7316-2156 BS_H9813KRS A A c.614T>G p.Ile205Ser p.I205S ENST00000372554 7/13 94 76 14 34 31 0 SH3GLB2,missense_variant,p.Ile201Ser,ENST00000372564,NM_020145.3,NM_001287046.1;SH3GLB2,missense_variant,p.Ile205Ser,ENST00000372554,NM_001287045.1;SH3GLB2,missense_variant,p.Ile201Ser,ENST00000417224,;SH3GLB2,missense_variant,p.Ile201Ser,ENST00000372559,;SH3GLB2,intron_variant,,ENST00000416629,;SH3GLB2,3_prime_UTR_variant,,ENST00000455407,;SH3GLB2,3_prime_UTR_variant,,ENST00000425236,;SH3GLB2,non_coding_transcript_exon_variant,,ENST00000461811,;SH3GLB2,non_coding_transcript_exon_variant,,ENST00000483980,;SH3GLB2,non_coding_transcript_exon_variant,,ENST00000477165,;SH3GLB2,downstream_gene_variant,,ENST00000416230,;SH3GLB2,upstream_gene_variant,,ENST00000479237,; C ENSG00000148341 ENST00000372554 Transcript missense_variant 739/1985 614/1215 205/404 I/S aTt/aGt COSM1105802,COSM4874519 1 -1 SH3GLB2 HGNC HGNC:10834 protein_coding YES CCDS69680.1 ENSP00000361634 Q9NR46 UPI000004A0D5 NM_001287045.1 deleterious(0.04) possibly_damaging(0.65) 7/13 Gene3D:1.20.1270.60,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR44071,hmmpanther:PTHR44071:SF2,SMART_domains:SM00721,cd07617 1,1 MODERATE 1 SNV 1 1,1 PASS AAT . . 129012258 IER5L . GRCh38 chr9 129177151 129177151 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.902A>C p.Lys301Thr p.K301T ENST00000372491 1/1 81 56 15 30 29 0 IER5L,missense_variant,p.Lys301Thr,ENST00000372491,NM_203434.2;AL158151.1,intron_variant,,ENST00000372490,;AL158151.3,intron_variant,,ENST00000599172,;,regulatory_region_variant,,ENSR00000241963,; G ENSG00000188483 ENST00000372491 Transcript missense_variant 1112/2711 902/1215 301/404 K/T aAg/aCg 1 -1 IER5L HGNC HGNC:23679 protein_coding YES CCDS43888.1 ENSP00000361569 Q5T953 UPI0000160E13 NM_203434.2 deleterious_low_confidence(0) probably_damaging(0.979) 1/1 hmmpanther:PTHR15895,hmmpanther:PTHR15895:SF11,Gene3D:2.130.10.10,Pfam_domain:PF05760 MODERATE SNV PASS CTT . . 129177151 GPR107 . GRCh38 chr9 130054008 130054008 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.76A>C p.Met26Leu p.M26L ENST00000372406 1/20 136 114 15 51 50 0 GPR107,missense_variant,p.Met26Leu,ENST00000372406,NM_001136557.1;GPR107,missense_variant,p.Met26Leu,ENST00000347136,NM_001287346.1,NM_020960.4;GPR107,missense_variant,p.Met26Leu,ENST00000372410,NM_001136558.1;GPR107,missense_variant,p.Met26Leu,ENST00000610997,;GPR107,missense_variant,p.Met26Leu,ENST00000493417,;,regulatory_region_variant,,ENSR00000242146,; C ENSG00000148358 ENST00000372406 Transcript missense_variant 583/7353 76/1803 26/600 M/L Atg/Ctg 1 1 GPR107 HGNC HGNC:17830 protein_coding YES CCDS48041.1 ENSP00000361483 Q5VW38 UPI00004589E0 NM_001136557.1 tolerated(1) benign(0) 1/20 hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF12,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAT . . 130054008 HMCN2 . GRCh38 chr9 130392120 130392120 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.10133+2T>G p.X3378_splice ENST00000624552 103 86 11 39 39 0 HMCN2,splice_donor_variant,,ENST00000624552,NM_001291815.1;HMCN2,splice_donor_variant,,ENST00000487727,; G ENSG00000148357 ENST00000624552 Transcript splice_donor_variant 1 1 HMCN2 HGNC HGNC:21293 protein_coding YES ENSP00000485357 Q8NDA2 UPI0004F23675 NM_001291815.1 66/97 HIGH 1 SNV 5 PASS GTA . . 130392120 ASS1 . GRCh38 chr9 130458591 130458591 + Splice_Site SNP T T G rs878870338 7316-2156 BS_H9813KRS T T c.363+2T>G p.X121_splice ENST00000372394 113 104 7 45 45 0 ASS1,splice_donor_variant,,ENST00000352480,NM_054012.3;ASS1,splice_donor_variant,,ENST00000372393,NM_000050.4;ASS1,splice_donor_variant,,ENST00000372394,;ASS1,splice_donor_variant,,ENST00000422569,;ASS1,splice_donor_variant,,ENST00000443588,;ASS1,splice_donor_variant,,ENST00000467695,; G ENSG00000130707 ENST00000372394 Transcript splice_donor_variant rs878870338 1 1 ASS1 HGNC HGNC:758 protein_coding YES CCDS6933.1 ENSP00000361471 P00966 Q5T6L4 UPI00000015D6 5/15 HIGH 1 SNV 2 1 PASS GTG . . 130458591 PRRC2B . GRCh38 chr9 131475956 131475956 + Missense_Mutation SNP C C T rs11243403 7316-2156 BS_H9813KRS C C c.3827C>T p.Ala1276Val p.A1276V ENST00000357304 15/31 137 126 10 39 38 0 PRRC2B,missense_variant,p.Ala1276Val,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Ala10Val,ENST00000451855,;PRRC2B,intron_variant,,ENST00000405995,;PRRC2B,downstream_gene_variant,,ENST00000456307,; T ENSG00000130723 ENST00000357304 Transcript missense_variant 3882/11042 3827/6690 1276/2229 A/V gCg/gTg rs11243403,COSM4163439,COSM4163440 1 1 PRRC2B HGNC HGNC:28121 protein_coding YES CCDS48044.1 ENSP00000349856 Q5JSZ5 UPI00002374A3 NM_013318.3 tolerated(0.58) benign(0) 15/31 mobidb-lite,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038 0.3357 0.3707 0.3228 0.1161 0.5586 0.2945 0.4187 0.5875 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCG . . 0.4674 0.3936 0.2928 0.4992 0.11 0.5998 0.5917 0.4883 0.342 131475956 UCK1 . GRCh38 chr9 131531098 131531098 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.77T>G p.Ile26Arg p.I26R ENST00000372211 1/7 111 92 14 36 36 0 UCK1,missense_variant,p.Ile26Arg,ENST00000372215,NM_001318519.1,NM_031432.3;UCK1,missense_variant,p.Ile26Arg,ENST00000372211,NM_001261451.2;UCK1,missense_variant,p.Ile26Arg,ENST00000372208,NM_001135954.2;UCK1,missense_variant,p.Ile26Arg,ENST00000372210,NM_001261450.2;UCK1,non_coding_transcript_exon_variant,,ENST00000459858,;UCK1,non_coding_transcript_exon_variant,,ENST00000494584,;UCK1,upstream_gene_variant,,ENST00000482398,;UCK1,upstream_gene_variant,,ENST00000484876,;UCK1,missense_variant,p.Ile26Arg,ENST00000491309,;,regulatory_region_variant,,ENSR00000242350,; C ENSG00000130717 ENST00000372211 Transcript missense_variant 103/2114 77/849 26/282 I/R aTa/aGa 1 -1 UCK1 HGNC HGNC:14859 protein_coding YES CCDS59152.1 ENSP00000361285 Q9HA47 UPI00004A2DB7 NM_001261451.2 deleterious(0) benign(0.33) 1/7 hmmpanther:PTHR10285:SF66,hmmpanther:PTHR10285 MODERATE 1 SNV 3 PASS TAT . . 131531098 COL5A1 . GRCh38 chr9 134730233 134730233 + Splice_Region SNP C C G novel 7316-2156 BS_H9813KRS C C c.925-3C>G ENST00000371817 105 92 12 29 29 0 COL5A1,splice_region_variant,,ENST00000371817,NM_000093.4;COL5A1,splice_region_variant,,ENST00000618395,NM_001278074.1;COL5A1,upstream_gene_variant,,ENST00000469093,; G ENSG00000130635 ENST00000371817 Transcript splice_region_variant,intron_variant 1 1 COL5A1 HGNC HGNC:2209 protein_coding YES CCDS6982.1 ENSP00000360882 P20908 A0A024R8E5 UPI0000210EE3 NM_000093.4 6/65 LOW 1 SNV 1 1 PASS CCA . . 134730233 COL5A1 . GRCh38 chr9 134782722 134782722 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2484+2T>G p.X828_splice ENST00000371817 102 79 8 39 35 0 COL5A1,splice_donor_variant,,ENST00000371817,NM_000093.4;COL5A1,splice_donor_variant,,ENST00000618395,NM_001278074.1; G ENSG00000130635 ENST00000371817 Transcript splice_donor_variant 1 1 COL5A1 HGNC HGNC:2209 protein_coding YES CCDS6982.1 ENSP00000360882 P20908 A0A024R8E5 UPI0000210EE3 NM_000093.4 29/65 HIGH 1 SNV 1 1 PASS GTG . . 134782722 COL5A1 . GRCh38 chr9 134796846 134796846 + Splice_Site SNP A A G 7316-2156 BS_H9813KRS A A c.2845-2A>G p.X949_splice ENST00000371817 131 100 11 39 37 0 COL5A1,splice_acceptor_variant,,ENST00000371817,NM_000093.4;COL5A1,splice_acceptor_variant,,ENST00000618395,NM_001278074.1; G ENSG00000130635 ENST00000371817 Transcript splice_acceptor_variant CS093853 1 1 COL5A1 HGNC HGNC:2209 protein_coding YES CCDS6982.1 ENSP00000360882 P20908 A0A024R8E5 UPI0000210EE3 NM_000093.4 35/65 HIGH 1 SNV 1 1 1 PASS CAG . . 134796846 COL5A1 . GRCh38 chr9 134814795 134814795 + Splice_Site SNP A A C 7316-2156 BS_H9813KRS A A c.3907-2A>C p.X1303_splice ENST00000371817 105 91 11 28 27 0 COL5A1,splice_acceptor_variant,,ENST00000371817,NM_000093.4;COL5A1,splice_acceptor_variant,,ENST00000618395,NM_001278074.1;COL5A1,downstream_gene_variant,,ENST00000463925,;,regulatory_region_variant,,ENSR00000242836,; C ENSG00000130635 ENST00000371817 Transcript splice_acceptor_variant CS128990 1 1 COL5A1 HGNC HGNC:2209 protein_coding YES CCDS6982.1 ENSP00000360882 P20908 A0A024R8E5 UPI0000210EE3 NM_000093.4 49/65 HIGH 1 SNV 1 1 1 PASS CAG . . 134814795 COL5A1 . GRCh38 chr9 134824598 134824598 + Splice_Site SNP A A C rs1327714949 7316-2156 BS_H9813KRS A A c.4699-2A>C p.X1567_splice ENST00000371817 163 109 47 41 41 0 COL5A1,splice_acceptor_variant,,ENST00000371817,NM_000093.4;COL5A1,splice_acceptor_variant,,ENST00000618395,NM_001278074.1;COL5A1,upstream_gene_variant,,ENST00000371820,;COL5A1,splice_acceptor_variant,,ENST00000460264,;COL5A1,upstream_gene_variant,,ENST00000465877,; C ENSG00000130635 ENST00000371817 Transcript splice_acceptor_variant rs1327714949 1 1 COL5A1 HGNC HGNC:2209 protein_coding YES CCDS6982.1 ENSP00000360882 P20908 A0A024R8E5 UPI0000210EE3 NM_000093.4 61/65 HIGH 1 SNV 1 1 PASS CAG . . 134824598 TMEM250 . GRCh38 chr9 136116884 136116884 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.17T>G p.Ile6Ser p.I6S ENST00000418388 2/2 125 100 18 32 31 0 TMEM250,missense_variant,p.Ile6Ser,ENST00000418388,NM_152833.2;TMEM250,missense_variant,p.Ile6Ser,ENST00000561457,NM_001256526.1;TMEM250,missense_variant,p.Ile6Ser,ENST00000447934,;TMEM250,missense_variant,p.Ile6Ser,ENST00000448040,;TMEM250,missense_variant,p.Ile6Ser,ENST00000557985,; C ENSG00000238227 ENST00000418388 Transcript missense_variant 520/2823 17/420 6/139 I/S aTt/aGt 1 -1 TMEM250 HGNC HGNC:31009 protein_coding YES CCDS59155.1 ENSP00000453019 H0YL14 UPI0000210F31 NM_152833.2 deleterious(0) benign(0.082) 2/2 hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF108 MODERATE 1 SNV 1 PASS AAT . . 136116884 NELFB . GRCh38 chr9 137255461 137255461 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.96A>C p.Glu32Asp p.E32D ENST00000343053 1/13 105 87 16 23 22 0 NELFB,missense_variant,p.Glu32Asp,ENST00000343053,NM_015456.4;NELFB,missense_variant,p.Glu32Asp,ENST00000634710,;STPG3,downstream_gene_variant,,ENST00000388931,NM_001256699.1;STPG3,downstream_gene_variant,,ENST00000412566,NM_001004353.3;STPG3,downstream_gene_variant,,ENST00000611378,NM_001256700.1;STPG3,downstream_gene_variant,,ENST00000620243,NM_001256701.1;STPG3-AS1,upstream_gene_variant,,ENST00000612170,;STPG3,downstream_gene_variant,,ENST00000610325,;STPG3,downstream_gene_variant,,ENST00000620716,;STPG3,downstream_gene_variant,,ENST00000622761,;,regulatory_region_variant,,ENSR00000243170,; C ENSG00000188986 ENST00000343053 Transcript missense_variant 289/2698 96/1887 32/628 E/D gaA/gaC 1 1 NELFB HGNC HGNC:24324 protein_coding YES CCDS7040.2 ENSP00000339495 A0A0X1KG71 UPI000719A1CA NM_015456.4 tolerated_low_confidence(0.3) benign(0.067) 1/13 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 137255461 NOXA1 . GRCh38 chr9 137423656 137423656 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.127A>C p.Asn43His p.N43H ENST00000341349 1/14 96 82 9 44 43 0 NOXA1,missense_variant,p.Asn43His,ENST00000341349,NM_006647.1,NM_001256067.1;NOXA1,missense_variant,p.Asn43His,ENST00000392815,NM_001256068.1;EXD3,upstream_gene_variant,,ENST00000340951,NM_017820.4;EXD3,upstream_gene_variant,,ENST00000465160,;EXD3,upstream_gene_variant,,ENST00000479452,NM_001286823.1;EXD3,upstream_gene_variant,,ENST00000475006,;EXD3,upstream_gene_variant,,ENST00000460390,;,regulatory_region_variant,,ENSR00000243196,; C ENSG00000188747 ENST00000341349 Transcript missense_variant 307/1678 127/1452 43/483 N/H Aac/Cac 1 1 NOXA1 HGNC HGNC:10668 protein_coding YES CCDS7042.1 ENSP00000342848 Q86UR1 UPI0000074717 NM_006647.1,NM_001256067.1 deleterious(0) probably_damaging(0.972) 1/14 PROSITE_profiles:PS50293,hmmpanther:PTHR15175,hmmpanther:PTHR15175:SF4,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452 MODERATE 1 SNV 1 PASS CAA . . 137423656 TUBB8 . GRCh38 chr10 49237 49237 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.2T>G p.Met1? p.M1? ENST00000568584 1/4 116 100 9 43 43 0 TUBB8,start_lost,p.Met1?,ENST00000568584,NM_177987.2;TUBB8,start_lost,p.Met1?,ENST00000561967,;TUBB8,start_lost,p.Met1?,ENST00000568866,;TUBB8,start_lost,p.Met1?,ENST00000562809,;TUBB8,intron_variant,,ENST00000564130,;TUBB8,non_coding_transcript_exon_variant,,ENST00000563456,;TUBB8,intron_variant,,ENST00000567466,;AL713922.1,downstream_gene_variant,,ENST00000416477,; C ENSG00000261456 ENST00000568584 Transcript start_lost 353/1790 2/1335 1/444 M/R aTg/aGg 1 -1 TUBB8 HGNC HGNC:20773 protein_coding YES CCDS7051.1 ENSP00000456206 Q3ZCM7 UPI000007238E NM_177987.2 deleterious_low_confidence(0) possibly_damaging(0.616) 1/4 PROSITE_patterns:PS00228,Gene3D:3.40.50.1440,Superfamily_domains:SSF52490 HIGH 1 SNV 1 1 PASS CAT . . 49237 NET1 . GRCh38 chr10 5456274 5456274 + Splice_Site SNP G G C rs1393967206 7316-2156 BS_H9813KRS G G c.1384+1G>C p.X462_splice ENST00000355029 113 105 6 43 42 0 NET1,splice_donor_variant,,ENST00000355029,NM_001047160.2;NET1,splice_donor_variant,,ENST00000380359,NM_005863.4;NET1,downstream_gene_variant,,ENST00000449083,;NET1,non_coding_transcript_exon_variant,,ENST00000484741,;NET1,downstream_gene_variant,,ENST00000465087,;NET1,downstream_gene_variant,,ENST00000486354,; C ENSG00000173848 ENST00000355029 Transcript splice_donor_variant rs1393967206 1 1 NET1 HGNC HGNC:14592 protein_coding YES CCDS41483.1 ENSP00000347134 Q7Z628 Q5SQI5 UPI00001A9465 NM_001047160.2 11/11 HIGH 1 SNV 1 PASS GGT . . 5456274 UPF2 . GRCh38 chr10 12042912 12042912 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.-19+2T>G ENST00000397053 91 74 6 35 35 0 UPF2,splice_donor_variant,,ENST00000397053,NM_080599.2;UPF2,upstream_gene_variant,,ENST00000357604,NM_015542.3;UPF2,splice_donor_variant,,ENST00000460569,;,regulatory_region_variant,,ENSR00000024501,; C ENSG00000151461 ENST00000397053 Transcript splice_donor_variant 1 -1 UPF2 HGNC HGNC:17854 protein_coding CCDS7086.1 ENSP00000380244 Q9HAU5 UPI0000070D5E NM_080599.2 1/21 HIGH SNV 5 PASS CAC . . 12042912 GPR158 . GRCh38 chr10 25176139 25176139 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.719A>C p.Asn240Thr p.N240T ENST00000376351 1/11 110 90 14 38 38 0 GPR158,missense_variant,p.Asn240Thr,ENST00000376351,NM_020752.2;GPR158-AS1,non_coding_transcript_exon_variant,,ENST00000449643,;,regulatory_region_variant,,ENSR00000258603,; C ENSG00000151025 ENST00000376351 Transcript missense_variant 1078/6959 719/3648 240/1215 N/T aAt/aCt 1 1 GPR158 HGNC HGNC:23689 protein_coding YES CCDS31166.1 ENSP00000365529 Q5T848 UPI0000199875 NM_020752.2 tolerated(0.48) benign(0.005) 1/11 hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Gene3D:3.30.450.20 MODERATE 1 SNV 1 PASS AAT . . 25176139 APBB1IP . GRCh38 chr10 26567325 26567325 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.1838T>G p.Val613Gly p.V613G ENST00000376236 15/15 117 101 12 21 21 0 APBB1IP,missense_variant,p.Val613Gly,ENST00000376236,NM_019043.3;APBB1IP,downstream_gene_variant,,ENST00000493857,;,regulatory_region_variant,,ENSR00000025803,;,regulatory_region_variant,,ENSR00000025804,; G ENSG00000077420 ENST00000376236 Transcript missense_variant 2293/2771 1838/2001 613/666 V/G gTc/gGc 1 1 APBB1IP HGNC HGNC:17379 protein_coding YES CCDS31167.1 ENSP00000365411 Q7Z5R6 UPI00001AF165 NM_019043.3 deleterious_low_confidence(0.04) benign(0) 15/15 hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTC . . 26567325 MKX . GRCh38 chr10 27743406 27743406 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.10A>C p.Ile4Leu p.I4L ENST00000375790 2/7 128 101 13 43 42 0 MKX,missense_variant,p.Ile4Leu,ENST00000375790,;MKX,missense_variant,p.Ile4Leu,ENST00000419761,NM_001242702.1,NM_173576.2;MKX,missense_variant,p.Ile4Leu,ENST00000460919,;MKX,missense_variant,p.Ile4Leu,ENST00000561227,;MKX-AS1,upstream_gene_variant,,ENST00000419777,; G ENSG00000150051 ENST00000375790 Transcript missense_variant 443/3846 10/1059 4/352 I/L Atc/Ctc 1 -1 MKX HGNC HGNC:23729 protein_coding YES CCDS7156.1 ENSP00000364946 Q8IYA7 UPI0000161911 deleterious_low_confidence(0.01) benign(0.239) 2/7 hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF3 MODERATE 1 SNV 1 PASS ATG . . 27743406 ZNF248 . GRCh38 chr10 37831746 37831746 + Nonsense_Mutation SNP T T A novel 7316-2156 BS_H9813KRS T T c.1609A>T p.Lys537Ter p.K537* ENST00000395867 6/6 113 90 8 43 42 0 ZNF248,stop_gained,p.Lys537Ter,ENST00000395867,NM_021045.2;ZNF248,stop_gained,p.Lys537Ter,ENST00000357328,NM_001267597.1,NM_001352482.1,NM_001352474.1,NM_001352473.1,NM_001352484.1,NM_001352483.1,NM_001352470.1,NM_001352471.1,NM_001352469.1,NM_001352491.1;ZNF248,intron_variant,,ENST00000374648,;ZNF248,intron_variant,,ENST00000611278,NM_001267605.1,NM_001267606.1;ZNF248,intron_variant,,ENST00000615949,NM_001267607.1;ZNF248,downstream_gene_variant,,ENST00000395873,;ZNF248,intron_variant,,ENST00000494133,;ZNF248,intron_variant,,ENST00000485560,; A ENSG00000198105 ENST00000395867 Transcript stop_gained 2160/5141 1609/1740 537/579 K/* Aaa/Taa 1 -1 ZNF248 HGNC HGNC:13041 protein_coding YES CCDS7194.1 ENSP00000379208 Q8NDW4 A2RUI7 UPI000006CF12 NM_021045.2 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF68,SMART_domains:SM00355,Superfamily_domains:SSF57667 HIGH 1 SNV 1 PASS TTA . . 37831746 AL356056.3 . GRCh38 chr10 46635105 46635105 + Splice_Region SNP T T G rs7070988 7316-2156 BS_H9813KRS T T n.444+5T>G ENST00000605984 61 49 11 24 24 0 AL356056.3,splice_region_variant,,ENST00000605984,;FAM35BP,non_coding_transcript_exon_variant,,ENST00000475914,;,regulatory_region_variant,,ENSR00000027595,;RHEBP1,non_coding_transcript_exon_variant,,ENST00000448647,;FAM35BP,intron_variant,,ENST00000497389,; G ENSG00000272430 ENST00000605984 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs7070988 1 1 AL356056.3 Clone_based_ensembl_gene lincRNA YES 3/3 0.1216 0.211 0.0821 0.0546 0.1193 0.1002 LOW 1 SNV 3 PASS TTT . . 46635105 BICC1 . GRCh38 chr10 58828793 58828793 + Missense_Mutation SNP T T C rs4948550 7316-2156 BS_H9813KRS T T c.2827T>C p.Ser943Pro p.S943P ENST00000373886 21/21 119 108 8 41 41 0 BICC1,missense_variant,p.Ser943Pro,ENST00000373886,NM_001080512.2; C ENSG00000122870 ENST00000373886 Transcript missense_variant 2831/5475 2827/2925 943/974 S/P Tcg/Ccg rs4948550,COSM4144771 1 1 BICC1 HGNC HGNC:19351 protein_coding YES CCDS31206.1 ENSP00000362993 Q9H694 UPI000059D156 NM_001080512.2 tolerated(1) benign(0) 21/21 hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF46 0.6074 0.3759 0.7334 0.7292 0.6909 0.6196 0.441 0.7124 0,1 16385451 MODERATE 1 SNV 1 1,1 1 PASS ATC . . 0.7075 0.4247 0.7889 0.6227 0.7426 0.7214 0.7314 0.7028 0.6721 58828793 RBP4 . GRCh38 chr10 93601048 93601048 + Splice_Site SNP T T A novel 7316-2156 BS_H9813KRS T T c.-18-2A>T ENST00000371467 120 104 12 23 23 0 RBP4,splice_acceptor_variant,,ENST00000371464,NM_006744.3;RBP4,splice_acceptor_variant,,ENST00000371467,NM_001323517.1;RBP4,intron_variant,,ENST00000371469,NM_001323518.1;FFAR4,intron_variant,,ENST00000604414,;RBP4,intron_variant,,ENST00000629763,;,regulatory_region_variant,,ENSR00000031787,; A ENSG00000138207 ENST00000371467 Transcript splice_acceptor_variant 1 -1 RBP4 HGNC HGNC:9922 protein_coding YES CCDS31249.1 ENSP00000360522 P02753 UPI0000044958 NM_001323517.1 1/5 HIGH 1 SNV 5 1 PASS CTG . . 93601048 RBP4 . GRCh38 chr10 93601049 93601049 + Splice_Region SNP G G C rs1157556996 7316-2156 BS_H9813KRS G G c.-18-3C>G ENST00000371467 121 106 11 23 23 0 RBP4,splice_region_variant,,ENST00000371464,NM_006744.3;RBP4,splice_region_variant,,ENST00000371467,NM_001323517.1;RBP4,intron_variant,,ENST00000371469,NM_001323518.1;FFAR4,intron_variant,,ENST00000604414,;RBP4,intron_variant,,ENST00000629763,;,regulatory_region_variant,,ENSR00000031787,; C ENSG00000138207 ENST00000371467 Transcript splice_region_variant,intron_variant rs1157556996 1 -1 RBP4 HGNC HGNC:9922 protein_coding YES CCDS31249.1 ENSP00000360522 P02753 UPI0000044958 NM_001323517.1 1/5 LOW 1 SNV 5 1 PASS TGC . . 8.722e-06 1.919e-05 93601049 NEURL1 . GRCh38 chr10 103494470 103494470 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.83A>C p.Lys28Thr p.K28T ENST00000369780 1/6 111 90 16 41 41 0 NEURL1,missense_variant,p.Lys28Thr,ENST00000369780,NM_004210.4;NEURL1-AS1,intron_variant,,ENST00000453753,; C ENSG00000107954 ENST00000369780 Transcript missense_variant,splice_region_variant 492/4314 83/1725 28/574 K/T aAa/aCa 1 1 NEURL1 HGNC HGNC:7761 protein_coding YES CCDS7551.1 ENSP00000358795 O76050 UPI0000073F46 NM_004210.4 tolerated_low_confidence(0.56) benign(0.003) 1/6 mobidb-lite,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF13 MODERATE 1 SNV 1 PASS AAA . . 103494470 HTRA1 . GRCh38 chr10 122461768 122461768 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.116A>C p.Asp39Ala p.D39A ENST00000368984 1/9 96 86 9 38 37 0 HTRA1,missense_variant,p.Asp39Ala,ENST00000368984,NM_002775.4;ARMS2,downstream_gene_variant,,ENST00000528446,NM_001099667.1;,regulatory_region_variant,,ENSR00000034579,; C ENSG00000166033 ENST00000368984 Transcript missense_variant 244/2120 116/1443 39/480 D/A gAc/gCc 1 1 HTRA1 HGNC HGNC:9476 protein_coding YES CCDS7630.1 ENSP00000357980 Q92743 UPI0000114888 NM_002775.4 tolerated(0.98) benign(0.003) 1/9 PDB-ENSP_mappings:3tjq.A,Pfam_domain:PF00219,PROSITE_profiles:PS51323,SMART_domains:SM00121,Superfamily_domains:SSF57184 MODERATE 1 SNV 1 1 PASS GAC . . 122461768 MKI67 . GRCh38 chr10 128107430 128107430 + Missense_Mutation SNP C C A rs1439060541 7316-2156 BS_H9813KRS C C c.4410G>T p.Leu1470Phe p.L1470F ENST00000368654 13/15 115 102 10 39 39 0 MKI67,missense_variant,p.Leu1470Phe,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Leu1110Phe,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;MKI67,downstream_gene_variant,,ENST00000484853,; A ENSG00000148773 ENST00000368654 Transcript missense_variant 4786/12678 4410/9771 1470/3256 L/F ttG/ttT rs1439060541 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 tolerated(1) benign(0) 13/15 Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295,mobidb-lite MODERATE 1 SNV 2 PASS TCA . . 8.124e-06 5.956e-05 128107430 TCERG1L . GRCh38 chr10 131311463 131311463 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.173T>G p.Val58Gly p.V58G ENST00000368642 1/12 89 73 11 34 31 0 TCERG1L,missense_variant,p.Val58Gly,ENST00000368642,NM_174937.3;,regulatory_region_variant,,ENSR00000035314,; C ENSG00000176769 ENST00000368642 Transcript missense_variant 259/2618 173/1761 58/586 V/G gTt/gGt 1 -1 TCERG1L HGNC HGNC:23533 protein_coding YES CCDS7662.2 ENSP00000357631 Q5VWI1 UPI00004589C8 NM_174937.3 tolerated_low_confidence(0.15) benign(0) 1/12 hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF5,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 131311463 STK32C . GRCh38 chr10 132307608 132307608 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.226A>C p.Thr76Pro p.T76P ENST00000298630 1/12 83 71 11 26 26 0 STK32C,missense_variant,p.Thr76Pro,ENST00000298630,NM_001318878.1,NM_173575.3;STK32C,intron_variant,,ENST00000368620,;STK32C,upstream_gene_variant,,ENST00000368622,NM_001318879.1;,regulatory_region_variant,,ENSR00000035385,; G ENSG00000165752 ENST00000298630 Transcript missense_variant 333/2086 226/1461 76/486 T/P Acc/Ccc 1 -1 STK32C HGNC HGNC:21332 protein_coding YES CCDS7666.1 ENSP00000298630 Q86UX6 A0A140VJW0 UPI0000192113 NM_001318878.1,NM_173575.3 tolerated(0.08) benign(0.084) 1/12 Gene3D:3.30.200.20,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF153 MODERATE 1 SNV 1 PASS GTG . . 132307608 UTF1 . GRCh38 chr10 133230340 133230340 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.52T>G p.Ser18Ala p.S18A ENST00000304477 1/2 72 53 15 47 46 0 UTF1,missense_variant,p.Ser18Ala,ENST00000304477,NM_003577.2;KNDC1,downstream_gene_variant,,ENST00000304613,NM_152643.6; G ENSG00000171794 ENST00000304477 Transcript missense_variant 67/1157 52/1026 18/341 S/A Tcg/Gcg 1 1 UTF1 HGNC HGNC:12634 protein_coding YES CCDS31318.1 ENSP00000305906 Q5T230 UPI000013E984 NM_003577.2 deleterious_low_confidence(0) benign(0.208) 1/2 hmmpanther:PTHR21654,hmmpanther:PTHR21654:SF16,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTC . . 133230340 LRRC56 . GRCh38 chr11 552221 552221 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1170A>C p.Glu390Asp p.E390D ENST00000270115 12/14 127 114 12 41 39 1 LRRC56,missense_variant,p.Glu390Asp,ENST00000270115,NM_198075.3;LMNTD2,downstream_gene_variant,,ENST00000329451,NM_173573.2;LMNTD2,downstream_gene_variant,,ENST00000441853,;LMNTD2,downstream_gene_variant,,ENST00000469990,; C ENSG00000161328 ENST00000270115 Transcript missense_variant 1670/2769 1170/1629 390/542 E/D gaA/gaC 1 1 LRRC56 HGNC HGNC:25430 protein_coding YES CCDS7700.1 ENSP00000270115 Q8IYG6 UPI000007425F NM_198075.3 tolerated(0.05) possibly_damaging(0.49) 12/14 hmmpanther:PTHR22708 MODERATE 1 SNV 1 PASS AAC . . 552221 PHRF1 . GRCh38 chr11 610497 610497 + Splice_Region SNP C C T rs763767805 7316-2156 BS_H9813KRS C C c.4417-4C>T ENST00000264555 129 120 6 46 46 0 PHRF1,splice_region_variant,,ENST00000264555,NM_001286581.1;PHRF1,splice_region_variant,,ENST00000413872,NM_001286582.1;PHRF1,splice_region_variant,,ENST00000416188,NM_020901.3;PHRF1,splice_region_variant,,ENST00000533464,NM_001286583.1;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,downstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,downstream_gene_variant,,ENST00000397570,;IRF7,downstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,downstream_gene_variant,,ENST00000525445,;PHRF1,intron_variant,,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000525750,;IRF7,downstream_gene_variant,,ENST00000527160,;IRF7,downstream_gene_variant,,ENST00000528413,;IRF7,downstream_gene_variant,,ENST00000531912,;IRF7,downstream_gene_variant,,ENST00000532096,;IRF7,downstream_gene_variant,,ENST00000532326,;PHRF1,downstream_gene_variant,,ENST00000532550,;IRF7,downstream_gene_variant,,ENST00000532788,;IRF7,downstream_gene_variant,,ENST00000533182,;IRF7,downstream_gene_variant,,ENST00000533190,; T ENSG00000070047 ENST00000264555 Transcript splice_region_variant,intron_variant rs763767805 1 1 PHRF1 HGNC HGNC:24351 protein_coding YES CCDS65988.1 ENSP00000264555 Q9P1Y6 A0A024RCA1 UPI000041A715 NM_001286581.1 15/17 LOW 1 SNV 1 PASS CCC . . 4.3e-06 5.878e-05 610497 MUC5AC . GRCh38 chr11 1190678 1190678 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.12533T>G p.Ile4178Ser p.I4178S ENST00000621226 31/49 91 59 8 41 37 0 MUC5AC,missense_variant,p.Ile4178Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; G ENSG00000215182 ENST00000621226 Transcript missense_variant 12580/17448 12533/16965 4178/5654 I/S aTc/aGc 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.77) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 1190678 MUC5AC . GRCh38 chr11 1191554 1191554 + Missense_Mutation SNP T T C rs1440897833 7316-2156 BS_H9813KRS T T c.13409T>C p.Ile4470Thr p.I4470T ENST00000621226 31/49 56 44 6 41 36 0 MUC5AC,missense_variant,p.Ile4470Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 13456/17448 13409/16965 4470/5654 I/T aTa/aCa rs1440897833 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.55) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATA . . 1191554 MUC5B . GRCh38 chr11 1226761 1226761 + Missense_Mutation SNP G G A rs373686293 7316-2156 BS_H9813KRS G G c.346G>A p.Val116Ile p.V116I ENST00000529681 4/49 129 62 57 42 40 0 MUC5B,missense_variant,p.Val116Ile,ENST00000529681,NM_002458.2;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;MUC5B,upstream_gene_variant,,ENST00000531082,; A ENSG00000117983 ENST00000529681 Transcript missense_variant 404/17911 346/17289 116/5762 V/I Gtc/Atc rs373686293 1 1 MUC5B HGNC HGNC:7516 protein_coding YES CCDS44515.2 ENSP00000436812 Q9HC84 UPI0001DD21C7 NM_002458.2 tolerated(0.72) benign(0.075) 4/49 Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,SMART_domains:SM00216 0.0002354 MODERATE 1 SNV 5 1 PASS CGT . . 2.449e-05 0.000132 5.961e-05 0.000102 3.253e-05 1226761 MUC5B . GRCh38 chr11 1229686 1229686 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.1103-4A>C ENST00000529681 114 108 6 37 36 0 MUC5B,splice_region_variant,,ENST00000529681,NM_002458.2;MUC5B,splice_region_variant,,ENST00000525715,;MUC5B,splice_region_variant,,ENST00000531082,; C ENSG00000117983 ENST00000529681 Transcript splice_region_variant,intron_variant 1 1 MUC5B HGNC HGNC:7516 protein_coding YES CCDS44515.2 ENSP00000436812 Q9HC84 UPI0001DD21C7 NM_002458.2 9/48 LOW 1 SNV 5 1 PASS CAC . . 1229686 KRTAP5-3 . GRCh38 chr11 1607787 1607787 + Missense_Mutation SNP C C A novel 7316-2156 BS_H9813KRS C C c.599G>T p.Cys200Phe p.C200F ENST00000399685 1/1 114 88 10 40 39 0 KRTAP5-3,missense_variant,p.Cys200Phe,ENST00000399685,NM_001012708.2;,regulatory_region_variant,,ENSR00000035812,; A ENSG00000196224 ENST00000399685 Transcript missense_variant 677/899 599/717 200/238 C/F tGt/tTt 1 -1 KRTAP5-3 HGNC HGNC:23598 protein_coding YES CCDS41591.1 ENSP00000382592 Q6L8H2 UPI000037605E NM_001012708.2 deleterious(0.01) benign(0.255) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF134,hmmpanther:PTHR23262:SF134,Low_complexity_(Seg):seg MODERATE 1 SNV PASS ACA . . 1607787 AC068580.4 . GRCh38 chr11 1753865 1753865 + Missense_Mutation SNP C C T rs147800688 7316-2156 BS_H9813KRS C C c.1009G>A p.Ala337Thr p.A337T ENST00000636397 8/10 161 149 5 45 45 0 AC068580.4,missense_variant,p.Ala337Thr,ENST00000636397,;AC068580.4,missense_variant,p.Ala337Thr,ENST00000636615,;CTSD,missense_variant,p.Ala337Thr,ENST00000236671,NM_001909.4;CTSD,missense_variant,p.Ala331Thr,ENST00000637815,;CTSD,missense_variant,p.Ala337Thr,ENST00000637915,;CTSD,missense_variant,p.Ala330Thr,ENST00000636571,;CTSD,missense_variant,p.Ala330Thr,ENST00000637387,;CTSD,missense_variant,p.Ala335Thr,ENST00000636843,;AC068580.4,missense_variant,p.Ala146Thr,ENST00000427721,;CTSD,missense_variant,p.Ala114Thr,ENST00000429746,;AC068580.4,missense_variant,p.Ala4Thr,ENST00000636579,;IFITM10,upstream_gene_variant,,ENST00000340134,NM_001170820.3;CTSD,downstream_gene_variant,,ENST00000367196,;CTSD,downstream_gene_variant,,ENST00000438213,;CTSD,non_coding_transcript_exon_variant,,ENST00000637937,;CTSD,non_coding_transcript_exon_variant,,ENST00000637158,;IFITM10,upstream_gene_variant,,ENST00000482459,;CTSD,3_prime_UTR_variant,,ENST00000433655,;CTSD,non_coding_transcript_exon_variant,,ENST00000497544,;IFITM10,upstream_gene_variant,,ENST00000382123,;IFITM10,upstream_gene_variant,,ENST00000486852,; T ENSG00000250644 ENST00000636397 Transcript missense_variant 1082/4038 1009/1749 337/582 A/T Gcg/Acg rs147800688 1 -1 AC068580.4 Clone_based_ensembl_gene protein_coding YES ENSP00000489910 A0A1B0GU03 UPI0007E52B17 tolerated_low_confidence(0.66) benign(0.05) 8/10 Gene3D:2.40.70.10,Pfam_domain:PF00026,PROSITE_profiles:PS51767,hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF230,Superfamily_domains:SSF50630 0.0006 0.002 0.001 0.0006812 uncertain_significance,likely_benign MODERATE SNV 5 1 PASS GCG . . 0.0002444 0.0002618 0.002901 9.004e-06 0.0007315 3.252e-05 1753865 HBB . GRCh38 chr11 5226928 5226928 + Splice_Site SNP A A G rs33956879 7316-2156 BS_H9813KRS A A c.92+2T>C p.X31_splice ENST00000647020 137 119 15 47 44 0 HBB,splice_donor_variant,,ENST00000335295,NM_000518.4;HBB,splice_donor_variant,,ENST00000380315,;HBB,splice_donor_variant,,ENST00000485743,;HBB,splice_donor_variant,,ENST00000647020,;RF00621,upstream_gene_variant,,ENST00000408104,;AC104389.6,upstream_gene_variant,,ENST00000644706,;HBB,intron_variant,,ENST00000633227,;HBB,upstream_gene_variant,,ENST00000475226,; G ENSG00000244734 ENST00000647020 Transcript splice_donor_variant rs33956879,CS890124,CS880071,CS900252,HbVar.820 1 -1 HBB HGNC HGNC:4827 protein_coding YES CCDS7753.1 ENSP00000494175 D9YZU5 UPI00000015C9 1/2 pathogenic 27351925,14576320,3422218,2393712,20406103,2917118,8037197,15108284 HIGH 1 SNV 1,1,1,1,0 1 PASS AAC . . 1.626e-05 3.588e-05 5226928 FAM160A2 . GRCh38 chr11 6224042 6224042 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.345A>C p.Gln115His p.Q115H ENST00000265978 3/12 135 110 13 22 22 0 FAM160A2,missense_variant,p.Gln115His,ENST00000265978,NM_032127.3;FAM160A2,missense_variant,p.Gln115His,ENST00000449352,NM_001098794.1;FAM160A2,missense_variant,p.Gln115His,ENST00000524416,; G ENSG00000051009 ENST00000265978 Transcript missense_variant 704/3481 345/2961 115/986 Q/H caA/caC 1 -1 FAM160A2 HGNC HGNC:25378 protein_coding YES CCDS7760.1 ENSP00000265978 Q8N612 UPI000013D6B5 NM_032127.3 deleterious(0) possibly_damaging(0.769) 3/12 Pfam_domain:PF10257,hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF4 MODERATE 1 SNV 1 PASS ATT . . 6224042 EIF3F . GRCh38 chr11 7987387 7987387 + Missense_Mutation SNP C C T rs61734576 7316-2156 BS_H9813KRS C C c.35C>T p.Pro12Leu p.P12L ENST00000533626 3/10 137 123 10 29 28 0 EIF3F,missense_variant,p.Pro12Leu,ENST00000533626,;EIF3F,missense_variant,p.Pro12Leu,ENST00000309828,NM_003754.2;EIF3F,missense_variant,p.Pro12Leu,ENST00000640290,;EIF3F,missense_variant,p.Pro12Leu,ENST00000531329,;EIF3F,non_coding_transcript_exon_variant,,ENST00000528653,;EIF3F,upstream_gene_variant,,ENST00000530219,;EIF3F,upstream_gene_variant,,ENST00000532882,;,regulatory_region_variant,,ENSR00000036414,; T ENSG00000175390 ENST00000533626 Transcript missense_variant 661/7540 35/1074 12/357 P/L cCg/cTg rs61734576 1 1 EIF3F HGNC HGNC:3275 protein_coding YES CCDS7785.1 ENSP00000431800 O00303 UPI000012D301 deleterious_low_confidence(0.02) benign(0.038) 3/10 PDB-ENSP_mappings:3j8b.F,PDB-ENSP_mappings:3j8c.F,Low_complexity_(Seg):seg,mobidb-lite 0.0377 0.0053 0.1542 0.001 0.0616 0.0123 0.008767 0.04172 MODERATE 1 SNV 2 PASS CCG . . 0.06481 0.009184 0.2237 0.0312 0.0004154 0.09069 0.045 0.05992 0.01975 7987387 SAA2 . GRCh38 chr11 18245480 18245480 + Missense_Mutation SNP C C T rs2468844 7316-2156 BS_H9813KRS C C c.266G>A p.Arg89His p.R89H ENST00000526900 4/4 143 121 18 32 32 0 SAA2,missense_variant,p.Arg89His,ENST00000526900,;SAA2,missense_variant,p.Arg89His,ENST00000529528,;SAA2,missense_variant,p.Arg89His,ENST00000256733,NM_030754.4;SAA2,intron_variant,,ENST00000414546,NM_001127380.2;SAA2-SAA4,intron_variant,,ENST00000524555,NM_001199744.1;SAA2,intron_variant,,ENST00000528349,;SAA2,intron_variant,,ENST00000530400,;RNA5SP333,downstream_gene_variant,,ENST00000363466,; T ENSG00000134339 ENST00000526900 Transcript missense_variant 450/687 266/369 89/122 R/H cGt/cAt rs2468844,CM1010098 1 -1 SAA2 HGNC HGNC:10514 protein_coding YES CCDS7833.1 ENSP00000436126 P0DJI9 UPI000016A553 tolerated(0.55) benign(0) 4/4 mobidb-lite,hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PIRSF_domain:PIRSF002472,Pfam_domain:PF00277,SMART_domains:SM00197 0.6089 0.7839 0.9276 0.8857 0.7014 0.683 0.8598 17601350,27900359,21103356,19729864,25206497,23437051 MODERATE 1 SNV 2 0,1 PASS ACG . . 0.8354 0.6519 0.7703 0.8411 0.9403 0.9287 0.8709 0.832 0.7414 18245480 TNKS1BP1 . GRCh38 chr11 57313723 57313723 + Missense_Mutation SNP G G C rs4939134 7316-2156 BS_H9813KRS G G c.965C>G p.Thr322Ser p.T322S ENST00000532437 4/11 156 143 7 43 42 0 TNKS1BP1,missense_variant,p.Thr322Ser,ENST00000532437,;TNKS1BP1,missense_variant,p.Thr322Ser,ENST00000358252,NM_033396.2;TNKS1BP1,upstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,; C ENSG00000149115 ENST00000532437 Transcript missense_variant 1277/5952 965/5190 322/1729 T/S aCt/aGt rs4939134,COSM3752503 1 -1 TNKS1BP1 HGNC HGNC:19081 protein_coding YES CCDS7951.1 ENSP00000437271 Q9C0C2 A0A024R542 UPI000013DB72 tolerated(1) benign(0) 4/11 hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF2,mobidb-lite 0.4868 0.0711 0.6268 0.7063 0.5457 0.6626 0.1475 0.5272 0,1 MODERATE 1 SNV 1 0,1 PASS AGT . . 0.561 0.1283 0.6796 0.5561 0.7127 0.586 0.5338 0.547 0.63 57313723 GLYAT . GRCh38 chr11 58715366 58715366 + Missense_Mutation SNP C C A 7316-2156 BS_H9813KRS C C c.139G>T p.Val47Leu p.V47L ENST00000611865 2/5 172 149 10 50 47 0 GLYAT,missense_variant,p.Val47Leu,ENST00000611865,;GLYAT,missense_variant,p.Val47Leu,ENST00000344743,NM_201648.2;GLYAT,missense_variant,p.Val47Leu,ENST00000278400,NM_005838.3;GLYAT,missense_variant,p.Val47Leu,ENST00000529732,;GLYAT,upstream_gene_variant,,ENST00000586098,; A ENSG00000149124 ENST00000611865 Transcript missense_variant 139/1899 139/891 47/296 V/L Gtg/Ttg COSM6204742 1 -1 GLYAT HGNC HGNC:13734 protein_coding YES CCDS7970.1 ENSP00000484592 Q6IB77 UPI00003667C7 deleterious(0) probably_damaging(1) 2/5 hmmpanther:PTHR15298:SF9,hmmpanther:PTHR15298,Gene3D:3.40.630.30,Pfam_domain:PF06021,Superfamily_domains:SSF55729 1 MODERATE 1 SNV 3 1 PASS ACC . . 58715366 OSBP . GRCh38 chr11 59615520 59615520 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.145A>C p.Thr49Pro p.T49P ENST00000263847 1/14 151 131 12 32 30 0 OSBP,missense_variant,p.Thr49Pro,ENST00000263847,NM_002556.2;AP000442.2,upstream_gene_variant,,ENST00000531108,;AP000442.2,upstream_gene_variant,,ENST00000531311,;,regulatory_region_variant,,ENSR00000040063,; G ENSG00000110048 ENST00000263847 Transcript missense_variant 625/5083 145/2424 49/807 T/P Acg/Ccg 1 -1 OSBP HGNC HGNC:8503 protein_coding YES CCDS7974.1 ENSP00000263847 P22059 UPI0000130EAF NM_002556.2 tolerated_low_confidence(0.31) benign(0) 1/14 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTC . . 59615520 PTGDR2 . GRCh38 chr11 60852637 60852637 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.1086A>C p.Glu362Asp p.E362D ENST00000332539 2/2 139 116 16 33 33 0 PTGDR2,missense_variant,p.Glu362Asp,ENST00000332539,NM_004778.2;CCDC86,downstream_gene_variant,,ENST00000227520,NM_024098.3;CCDC86,downstream_gene_variant,,ENST00000545580,;AP000777.3,upstream_gene_variant,,ENST00000538705,;CCDC86,downstream_gene_variant,,ENST00000535217,;,regulatory_region_variant,,ENSR00000040152,; G ENSG00000183134 ENST00000332539 Transcript missense_variant 1198/2895 1086/1188 362/395 E/D gaA/gaC 1 -1 PTGDR2 HGNC HGNC:4502 protein_coding YES CCDS7994.1 ENSP00000332812 Q9Y5Y4 UPI00001B011A NM_004778.2 tolerated_low_confidence(0.62) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR24229:SF8,hmmpanther:PTHR24229 MODERATE 1 SNV 1 PASS GTT . . 60852637 DDB1 . GRCh38 chr11 61314489 61314489 + Splice_Region SNP A A G rs771879203 7316-2156 BS_H9813KRS A A c.1411-3T>C ENST00000301764 108 100 6 29 29 0 DDB1,splice_region_variant,,ENST00000301764,NM_001923.4;DDB1,intron_variant,,ENST00000543658,;DDB1,splice_region_variant,,ENST00000538280,;DDB1,splice_region_variant,,ENST00000545930,;DDB1,splice_region_variant,,ENST00000535967,;DDB1,splice_region_variant,,ENST00000537877,;DDB1,splice_region_variant,,ENST00000539739,;DDB1,splice_region_variant,,ENST00000540166,;DDB1,splice_region_variant,,ENST00000540784,;DDB1,non_coding_transcript_exon_variant,,ENST00000535147,;DDB1,non_coding_transcript_exon_variant,,ENST00000414411,;DDB1,downstream_gene_variant,,ENST00000535174,;DDB1,upstream_gene_variant,,ENST00000539332,; G ENSG00000167986 ENST00000301764 Transcript splice_region_variant,intron_variant rs771879203 1 -1 DDB1 HGNC HGNC:2717 protein_coding YES CCDS31576.1 ENSP00000301764 Q16531 UPI0000000CB7 NM_001923.4 12/26 LOW 1 SNV 1 PASS TAG . . 1.686e-05 0.0001369 61314489 MYRF . GRCh38 chr11 61766223 61766223 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.398+2T>G p.X133_splice ENST00000278836 107 93 8 30 28 0 MYRF,splice_donor_variant,,ENST00000265460,NM_013279.3;MYRF,splice_donor_variant,,ENST00000278836,NM_001127392.2;TMEM258,downstream_gene_variant,,ENST00000535042,;MYRF,non_coding_transcript_exon_variant,,ENST00000537766,; G ENSG00000124920 ENST00000278836 Transcript splice_donor_variant 1 1 MYRF HGNC HGNC:1181 protein_coding YES CCDS44622.1 ENSP00000278836 Q9Y2G1 UPI0000D45F7B NM_001127392.2 3/26 HIGH 1 SNV 1 PASS GTG . . 61766223 FADS2 . GRCh38 chr11 61863072 61863072 + Splice_Region SNP G G T rs747819760 7316-2156 BS_H9813KRS G G c.980+3G>T ENST00000278840 118 110 7 40 40 0 FADS2,missense_variant,p.Cys94Phe,ENST00000521571,;FADS2,splice_region_variant,,ENST00000257261,NM_001281501.1;FADS2,splice_region_variant,,ENST00000278840,NM_004265.3;FADS2,splice_region_variant,,ENST00000355484,;FADS2,splice_region_variant,,ENST00000521849,;FADS2,splice_region_variant,,ENST00000522056,NM_001281502.1;FADS2,splice_region_variant,,ENST00000523235,;FADS2,non_coding_transcript_exon_variant,,ENST00000522359,; T ENSG00000134824 ENST00000278840 Transcript splice_region_variant,intron_variant rs747819760 1 1 FADS2 HGNC HGNC:3575 protein_coding YES CCDS8012.1 ENSP00000278840 O95864 UPI000003405E NM_004265.3 8/11 LOW 1 SNV 1 PASS TGC . . 4.061e-06 2.978e-05 61863072 AHNAK . GRCh38 chr11 62527876 62527876 + Missense_Mutation SNP T T A 7316-2156 BS_H9813KRS T T c.6541A>T p.Thr2181Ser p.T2181S ENST00000378024 5/5 117 97 8 34 34 0 AHNAK,missense_variant,p.Thr2181Ser,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 6816/18787 6541/17673 2181/5890 T/S Acc/Tcc COSM6238589,COSM6238588 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.21) benign(0.017) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 1,1 MODERATE 1 SNV 2 1,1 PASS GTC . . 62527876 EHD1 . GRCh38 chr11 64878358 64878358 + Missense_Mutation SNP A A C rs527316623 7316-2156 BS_H9813KRS A A c.149T>G p.Leu50Arg p.L50R ENST00000621096 2/6 142 130 5 35 34 0 EHD1,missense_variant,p.Leu36Arg,ENST00000320631,NM_006795.3;EHD1,missense_variant,p.Leu36Arg,ENST00000359393,NM_001282444.1;EHD1,missense_variant,p.Leu50Arg,ENST00000621096,NM_001282445.1;EHD1,missense_variant,p.Leu50Arg,ENST00000433803,;EHD1,missense_variant,p.Leu36Arg,ENST00000411683,;EHD1,missense_variant,p.Leu36Arg,ENST00000457202,;EHD1,upstream_gene_variant,,ENST00000421510,;EHD1,upstream_gene_variant,,ENST00000455148,;EHD1,non_coding_transcript_exon_variant,,ENST00000466015,;EHD1,downstream_gene_variant,,ENST00000489379,;,regulatory_region_variant,,ENSR00000040741,;AP001187.1,upstream_gene_variant,,ENST00000428947,; C ENSG00000110047 ENST00000621096 Transcript missense_variant 232/3336 149/1647 50/548 L/R cTg/cGg rs527316623 1 -1 EHD1 HGNC HGNC:3242 protein_coding YES CCDS73315.1 ENSP00000479153 A0A024R571 UPI0000EE46CF NM_001282445.1 deleterious(0) probably_damaging(0.999) 2/6 hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Pfam_domain:PF16880,Gene3D:3.40.50.300 0.0002 0.001 MODERATE 1 SNV 5 PASS CAG . . 4.069e-06 5.802e-05 64878358 NAALADL1 . GRCh38 chr11 65045417 65045417 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.2077T>G p.Phe693Val p.F693V ENST00000358658 18/18 99 85 11 32 32 0 NAALADL1,missense_variant,p.Phe693Val,ENST00000358658,NM_005468.2;NAALADL1,missense_variant,p.Phe744Val,ENST00000340252,;NAALADL1,missense_variant,p.Phe658Val,ENST00000356632,;NAALADL1,missense_variant,p.Phe652Val,ENST00000355721,;NAALADL1,missense_variant,p.Phe40Val,ENST00000526799,;NAALADL1,missense_variant,p.Phe40Val,ENST00000530995,;NAALADL1,missense_variant,p.Phe40Val,ENST00000526516,;NAALADL1,missense_variant,p.Phe40Val,ENST00000532802,;NAALADL1,intron_variant,,ENST00000533753,;SNX15,downstream_gene_variant,,ENST00000377244,NM_013306.4;SAC3D1,downstream_gene_variant,,ENST00000398846,NM_013299.3;NAALADL1,downstream_gene_variant,,ENST00000528884,;SAC3D1,downstream_gene_variant,,ENST00000529996,;NAALADL1,downstream_gene_variant,,ENST00000530139,;SAC3D1,downstream_gene_variant,,ENST00000531072,;NAALADL1,downstream_gene_variant,,ENST00000533340,;NAALADL1,downstream_gene_variant,,ENST00000533842,;SAC3D1,downstream_gene_variant,,ENST00000528109,;SAC3D1,downstream_gene_variant,,ENST00000530213,;SAC3D1,downstream_gene_variant,,ENST00000533017,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529274,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000528977,;NAALADL1,intron_variant,,ENST00000532450,;ARL2-SNX15,downstream_gene_variant,,ENST00000301886,;NAALADL1,downstream_gene_variant,,ENST00000524445,;SNX15,downstream_gene_variant,,ENST00000526702,;NAALADL1,downstream_gene_variant,,ENST00000529685,;NAALADL1,downstream_gene_variant,,ENST00000531174,;NAALADL1,downstream_gene_variant,,ENST00000531746,;NAALADL1,downstream_gene_variant,,ENST00000532432,;NAALADL1,downstream_gene_variant,,ENST00000534568,; C ENSG00000168060 ENST00000358658 Transcript missense_variant 2105/2699 2077/2223 693/740 F/V Ttc/Gtc 1 -1 NAALADL1 HGNC HGNC:23536 protein_coding YES CCDS31604.1 ENSP00000351484 Q9UQQ1 UPI000013E761 NM_005468.2 deleterious(0) probably_damaging(0.999) 18/18 hmmpanther:PTHR10404:SF50,hmmpanther:PTHR10404,Pfam_domain:PF04253,Gene3D:1.20.930.40,Superfamily_domains:SSF47672 MODERATE 1 SNV 1 PASS AAT . . 65045417 LTBP3 . GRCh38 chr11 65557919 65557919 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.41A>C p.Glu14Ala p.E14A ENST00000301873 1/28 139 115 12 39 38 0 LTBP3,missense_variant,p.Glu14Ala,ENST00000301873,NM_001130144.2;LTBP3,missense_variant,p.Glu14Ala,ENST00000322147,NM_021070.4,NM_001164266.1;LTBP3,intron_variant,,ENST00000530866,;LTBP3,upstream_gene_variant,,ENST00000526927,;LTBP3,upstream_gene_variant,,ENST00000530426,;AP001362.1,upstream_gene_variant,,ENST00000625165,;LTBP3,missense_variant,p.Glu14Ala,ENST00000528516,;LTBP3,upstream_gene_variant,,ENST00000524798,;LTBP3,upstream_gene_variant,,ENST00000526825,;LTBP3,upstream_gene_variant,,ENST00000527792,;,regulatory_region_variant,,ENSR00000040853,; G ENSG00000168056 ENST00000301873 Transcript missense_variant 310/4443 41/3912 14/1303 E/A gAg/gCg 1 -1 LTBP3 HGNC HGNC:6716 protein_coding YES CCDS44647.1 ENSP00000301873 Q9NS15 UPI00003667EB NM_001130144.2 tolerated_low_confidence(0.5) benign(0) 1/28 Cleavage_site_(Signalp):SignalP-TM MODERATE 1 SNV 2 1 PASS CTC . . 65557919 RBM14 . GRCh38 chr11 66625245 66625245 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1369A>C p.Met457Leu p.M457L ENST00000310137 2/3 104 84 13 35 34 0 RBM14,missense_variant,p.Met457Leu,ENST00000310137,NM_006328.3;RBM14,intron_variant,,ENST00000393979,NM_001198836.1;RBM14,intron_variant,,ENST00000409738,NM_001198837.1;RBM14-RBM4,intron_variant,,ENST00000412278,NM_001198845.1;RBM14-RBM4,intron_variant,,ENST00000500635,NM_001198846.1;RBM14,downstream_gene_variant,,ENST00000409372,;RBM14,downstream_gene_variant,,ENST00000443702,;RBM14-RBM4,intron_variant,,ENST00000511114,;RBM14,downstream_gene_variant,,ENST00000461478,;RBM14,downstream_gene_variant,,ENST00000496694,;RBM14-RBM4,intron_variant,,ENST00000421355,; C ENSG00000239306 ENST00000310137 Transcript missense_variant 1508/2828 1369/2010 457/669 M/L Atg/Ctg 1 1 RBM14 HGNC HGNC:14219 protein_coding YES CCDS8147.1 ENSP00000311747 Q96PK6 A0A0S2Z4Z0 UPI0000073D46 NM_006328.3 tolerated(1) benign(0) 2/3 Low_complexity_(Seg):seg,hmmpanther:PTHR45254 MODERATE 1 SNV 1 PASS AAT . . 66625245 GRK2 . GRCh38 chr11 67283950 67283950 + Splice_Site SNP G G T rs1243661829 7316-2156 BS_H9813KRS G G c.1491+1G>T p.X497_splice ENST00000308595 110 96 10 34 33 0 GRK2,splice_donor_variant,,ENST00000308595,NM_001619.3;GRK2,intron_variant,,ENST00000526285,;ANKRD13D,upstream_gene_variant,,ENST00000447274,;GRK2,splice_donor_variant,,ENST00000527176,;GRK2,splice_donor_variant,,ENST00000532099,;GRK2,intron_variant,,ENST00000529738,;GRK2,upstream_gene_variant,,ENST00000524899,;GRK2,downstream_gene_variant,,ENST00000530291,;GRK2,splice_donor_variant,,ENST00000416281,;GRK2,splice_donor_variant,,ENST00000532611,;GRK2,non_coding_transcript_exon_variant,,ENST00000533077,;GRK2,non_coding_transcript_exon_variant,,ENST00000526572,;GRK2,non_coding_transcript_exon_variant,,ENST00000531390,;GRK2,downstream_gene_variant,,ENST00000529815,;GRK2,downstream_gene_variant,,ENST00000534651,; T ENSG00000173020 ENST00000308595 Transcript splice_donor_variant rs1243661829 1 1 GRK2 HGNC HGNC:289 protein_coding YES CCDS8156.1 ENSP00000312262 P25098 A0A0S2Z392 UPI0000001C68 NM_001619.3 17/20 HIGH 1 SNV 1 PASS GGT . . 67283950 PHOX2A . GRCh38 chr11 72239969 72239969 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.635T>G p.Val212Gly p.V212G ENST00000298231 3/3 93 81 9 44 43 1 PHOX2A,missense_variant,p.Val212Gly,ENST00000298231,NM_005169.3;PHOX2A,intron_variant,,ENST00000546310,;INPPL1,downstream_gene_variant,,ENST00000298229,NM_001567.3;INPPL1,downstream_gene_variant,,ENST00000320683,;INPPL1,downstream_gene_variant,,ENST00000538751,;INPPL1,downstream_gene_variant,,ENST00000541752,;INPPL1,downstream_gene_variant,,ENST00000541756,;PHOX2A,non_coding_transcript_exon_variant,,ENST00000544057,;INPPL1,downstream_gene_variant,,ENST00000535985,;INPPL1,downstream_gene_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000545355,;,regulatory_region_variant,,ENSR00000041675,; C ENSG00000165462 ENST00000298231 Transcript missense_variant 807/1699 635/855 212/284 V/G gTc/gGc 1 -1 PHOX2A HGNC HGNC:691 protein_coding YES CCDS8214.1 ENSP00000298231 O14813 UPI0000074593 NM_005169.3 tolerated(0.45) benign(0) 3/3 hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF303,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GAC . . 72239969 RPS3 . GRCh38 chr11 75404870 75404870 + Splice_Site SNP T T G rs879020583 7316-2156 BS_H9813KRS T T c.*3+2T>G ENST00000278572 112 98 10 28 28 0 RPS3,splice_donor_variant,,ENST00000278572,NM_001260506.1;RPS3,splice_donor_variant,,ENST00000422465,NM_001260507.1;RPS3,splice_donor_variant,,ENST00000527446,NM_001256802.1;RPS3,splice_donor_variant,,ENST00000531188,NM_001005.4;RPS3,splice_donor_variant,,ENST00000534440,;RPS3,3_prime_UTR_variant,,ENST00000525933,;RPS3,3_prime_UTR_variant,,ENST00000524851,;RPS3,downstream_gene_variant,,ENST00000526608,;RPS3,downstream_gene_variant,,ENST00000527273,;RPS3,downstream_gene_variant,,ENST00000528847,;RPS3,downstream_gene_variant,,ENST00000530164,;SNORD15A,downstream_gene_variant,,ENST00000384214,;SNORD15B,downstream_gene_variant,,ENST00000384714,;RPS3,downstream_gene_variant,,ENST00000529285,;RPS3,downstream_gene_variant,,ENST00000534555,;RPS3,splice_donor_variant,,ENST00000525690,;RPS3,splice_donor_variant,,ENST00000526248,;RPS3,splice_donor_variant,,ENST00000528439,;RPS3,splice_donor_variant,,ENST00000530170,;RPS3,splice_donor_variant,,ENST00000530721,;RPS3,splice_donor_variant,,ENST00000532872,;RPS3,downstream_gene_variant,,ENST00000529173,; G ENSG00000149273 ENST00000278572 Transcript splice_donor_variant rs879020583 1 1 RPS3 HGNC HGNC:10420 protein_coding YES CCDS58161.1 ENSP00000278572 P23396 UPI0001EE4B77 NM_001260506.1 6/6 HIGH 1 SNV 3 PASS GTA . . 75404870 KMT2A . GRCh38 chr11 118436649 118436649 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.137T>G p.Val46Gly p.V46G ENST00000534358 1/36 75 63 6 49 46 1 KMT2A,missense_variant,p.Val46Gly,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Val46Gly,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Val46Gly,ENST00000531904,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000529852,;KMT2A,upstream_gene_variant,,ENST00000532204,;KMT2A,upstream_gene_variant,,ENST00000533790,;AP001267.2,upstream_gene_variant,,ENST00000532619,;,regulatory_region_variant,,ENSR00000045630,; G ENSG00000118058 ENST00000534358 Transcript missense_variant 160/16602 137/11919 46/3972 V/G gTc/gGc 1 1 KMT2A HGNC HGNC:7132 protein_coding YES CCDS55791.1 ENSP00000436786 Q03164 UPI0001E5E732 NM_001197104.1 deleterious_low_confidence(0.01) benign(0) 1/36 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTC . . 118436649 MCAM . GRCh38 chr11 119314487 119314487 + Splice_Site SNP A A C 7316-2156 BS_H9813KRS A A c.559+2T>G p.X187_splice ENST00000264036 86 77 8 29 29 0 MCAM,splice_donor_variant,,ENST00000264036,NM_006500.2;CBL,downstream_gene_variant,,ENST00000637974,;MIR6756,upstream_gene_variant,,ENST00000616240,;MCAM,splice_donor_variant,,ENST00000530706,;MCAM,upstream_gene_variant,,ENST00000524940,;MCAM,downstream_gene_variant,,ENST00000525555,;MCAM,downstream_gene_variant,,ENST00000526992,;MCAM,downstream_gene_variant,,ENST00000528502,;MCAM,upstream_gene_variant,,ENST00000528976,;MCAM,downstream_gene_variant,,ENST00000529257,;MCAM,downstream_gene_variant,,ENST00000529295,;MCAM,downstream_gene_variant,,ENST00000529686,;MCAM,downstream_gene_variant,,ENST00000530144,;MCAM,downstream_gene_variant,,ENST00000534522,;MCAM,splice_donor_variant,,ENST00000528533,;MCAM,non_coding_transcript_exon_variant,,ENST00000525586,;MCAM,downstream_gene_variant,,ENST00000526190,;MCAM,downstream_gene_variant,,ENST00000530006,;MCAM,downstream_gene_variant,,ENST00000530937,; C ENSG00000076706 ENST00000264036 Transcript splice_donor_variant COSM1604200 1 -1 MCAM HGNC HGNC:6934 protein_coding YES CCDS31690.1 ENSP00000264036 P43121 A0A024R3I5 UPI000013D4A8 NM_006500.2 5/15 1 HIGH 1 SNV 1 1 PASS CAC . . 119314487 OAF . GRCh38 chr11 120228970 120228970 + Missense_Mutation SNP G G A rs2508490 7316-2156 BS_H9813KRS G G c.650G>A p.Arg217His p.R217H ENST00000328965 4/4 95 86 7 34 34 0 OAF,missense_variant,p.Arg217His,ENST00000328965,NM_178507.2;OAF,missense_variant,p.Arg101His,ENST00000531220,; A ENSG00000184232 ENST00000328965 Transcript missense_variant 1163/2525 650/822 217/273 R/H cGc/cAc rs2508490,COSM4145403 1 1 OAF HGNC HGNC:28752 protein_coding YES CCDS8430.1 ENSP00000332613 Q86UD1 UPI000000DC44 NM_178507.2 tolerated(0.51) benign(0) 4/4 hmmpanther:PTHR13423,Pfam_domain:PF14941 0.4892 0.4879 0.5951 0.1359 0.7922 0.4683 0.5356 0.7929 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.6589 0.5181 0.5161 0.7311 0.1355 0.7827 0.7992 0.7238 0.5502 120228970 FGF23 . GRCh38 chr12 4370429 4370429 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.670T>G p.Leu224Val p.L224V ENST00000237837 3/3 87 73 11 23 23 0 FGF23,missense_variant,p.Leu224Val,ENST00000237837,NM_020638.2; C ENSG00000118972 ENST00000237837 Transcript missense_variant 816/3018 670/756 224/251 L/V Tta/Gta 1 -1 FGF23 HGNC HGNC:3680 protein_coding YES CCDS8526.1 ENSP00000237837 Q9GZV9 UPI000003ED58 NM_020638.2 tolerated_low_confidence(0.07) benign(0.098) 3/3 hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF69 MODERATE 1 SNV 1 1 PASS AAT . . 4370429 VWF . GRCh38 chr12 6044368 6044368 + Missense_Mutation SNP T T C rs1063856 7316-2156 BS_H9813KRS T T c.2365A>G p.Thr789Ala p.T789A ENST00000261405 18/52 111 104 6 33 33 0 VWF,missense_variant,p.Thr789Ala,ENST00000261405,NM_000552.4;VWF,intron_variant,,ENST00000538635,; C ENSG00000110799 ENST00000261405 Transcript missense_variant 2620/8838 2365/8442 789/2813 T/A Acc/Gcc rs1063856,CM093840,CM107283,COSM3753433 1 -1 VWF HGNC HGNC:12726 protein_coding YES CCDS8539.1 ENSP00000261405 P04275 UPI00001AE7EE NM_000552.4 tolerated(1) benign(0) 18/52 Gene3D:2.10.25.10,Pfam_domain:PF01826,PIRSF_domain:PIRSF002495,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF361,Superfamily_domains:SSF57567 0.3363 0.6377 0.2406 0.0913 0.3668 0.2178 0.5683 0.3574 not_provided,benign,likely_benign 0,0,0,1 20565774,22024213,19379518,25741868,21810271,20346360,22133274,21163921,22858724,21980494,21289515,20492463,22568520,25779970,26047609,20231535,21534939,25646961,23267103,20696945,24504737,22493754,18848323,27359253,29334895 MODERATE 1 SNV 1 1,1,1,1 1 PASS GTA . . 0.3121 0.5852 0.1734 0.2965 0.06956 0.3603 0.3622 0.327 0.2495 6044368 C1R . GRCh38 chr12 7089703 7089703 + Missense_Mutation SNP G G A rs1801046 7316-2156 BS_H9813KRS G G c.455C>T p.Ser152Leu p.S152L ENST00000542285 4/11 161 140 12 27 27 0 C1R,missense_variant,p.Ser152Leu,ENST00000542285,NM_001733.4,NM_001354346.1;C1R,missense_variant,p.Ser166Leu,ENST00000536053,;C1R,missense_variant,p.Ser118Leu,ENST00000535233,;C1R,missense_variant,p.Ser47Leu,ENST00000541042,;C1R,missense_variant,p.Ser47Leu,ENST00000538050,;C1R,missense_variant,p.Ser127Leu,ENST00000543835,;C1R,missense_variant,p.Ser47Leu,ENST00000540610,;C1R,splice_region_variant,,ENST00000540242,;C1RL,downstream_gene_variant,,ENST00000266542,NM_001297640.1,NM_016546.3;C1RL,downstream_gene_variant,,ENST00000545280,;C1RL,3_prime_UTR_variant,,ENST00000539803,;C1R,3_prime_UTR_variant,,ENST00000543362,;C1R,non_coding_transcript_exon_variant,,ENST00000540394,;C1R,non_coding_transcript_exon_variant,,ENST00000543851,;C1R,downstream_gene_variant,,ENST00000536092,;C1R,downstream_gene_variant,,ENST00000545466,;C1R,upstream_gene_variant,,ENST00000602298,; A ENSG00000159403 ENST00000542285 Transcript missense_variant 674/2660 455/2118 152/705 S/L tCa/tTa rs1801046,COSM4997861 1 -1 C1R HGNC HGNC:1246 protein_coding YES CCDS81658.1 ENSP00000438615 P00736 UPI00000422ED NM_001733.4,NM_001354346.1 tolerated(0.18) benign(0.003) 4/11 cd00054,PIRSF_domain:PIRSF001155,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196,hmmpanther:PTHR45206,PROSITE_patterns:PS01187 0.1657 0.2315 0,1 MODERATE 1 SNV 1 0,1 1 PASS TGA . . 0.2313 0.1823 0.1337 0.1847 0.3724 0.312 0.2369 0.2327 0.2187 7089703 CLSTN3 . GRCh38 chr12 7157687 7157687 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.2726T>G p.Met909Arg p.M909R ENST00000266546 17/18 102 83 13 29 29 0 CLSTN3,missense_variant,p.Met921Arg,ENST00000537408,;CLSTN3,missense_variant,p.Met909Arg,ENST00000266546,NM_014718.3;CLSTN3,non_coding_transcript_exon_variant,,ENST00000331148,;CLSTN3,non_coding_transcript_exon_variant,,ENST00000535313,; G ENSG00000139182 ENST00000266546 Transcript missense_variant 3176/4185 2726/2871 909/956 M/R aTg/aGg 1 1 CLSTN3 HGNC HGNC:18371 protein_coding YES CCDS8575.1 ENSP00000266546 Q9BQT9 UPI0000049E7C NM_014718.3 deleterious(0) probably_damaging(0.998) 17/18 hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5 MODERATE 1 SNV 1 PASS ATG . . 7157687 ZNF705A . GRCh38 chr12 8175287 8175287 + Missense_Mutation SNP C C T rs201454011 7316-2156 BS_H9813KRS C C c.199C>T p.Arg67Trp p.R67W ENST00000359286 3/5 132 104 23 47 45 1 ZNF705A,missense_variant,p.Arg67Trp,ENST00000359286,NM_001004328.2;ZNF705A,missense_variant,p.Arg67Trp,ENST00000610508,;ZNF705A,missense_variant,p.Arg67Trp,ENST00000396570,;ZNF705A,upstream_gene_variant,,ENST00000398526,;FAM66C,upstream_gene_variant,,ENST00000454799,;FAM66C,upstream_gene_variant,,ENST00000456135,;FAM66C,upstream_gene_variant,,ENST00000541558,;FAM66C,upstream_gene_variant,,ENST00000544214,;AC092111.3,3_prime_UTR_variant,,ENST00000402465,; T ENSG00000196946 ENST00000359286 Transcript missense_variant 288/3455 199/903 67/300 R/W Cgg/Tgg rs201454011,COSM3733520 1 1 ZNF705A HGNC HGNC:32281 protein_coding YES CCDS31737.1 ENSP00000352233 Q6ZN79 UPI000035E780 NM_001004328.2 deleterious(0) benign(0.061) 3/5 PROSITE_profiles:PS50805,hmmpanther:PTHR24381:SF239,hmmpanther:PTHR24381,SMART_domains:SM00349 0,1 MODERATE SNV 2 0,1 PASS GCG . . 0.006 0.001869 0.01587 0.00218 0.0129 0.002025 0.003352 0.007842 0.004214 8175287 A2M . GRCh38 chr12 9068739 9068739 + Splice_Site SNP C C T rs111819233 7316-2156 BS_H9813KRS C C c.4366+1G>A p.X1456_splice ENST00000318602 120 107 7 58 56 0 A2M,splice_donor_variant,,ENST00000318602,NM_000014.4,NM_001347423.1;A2M-AS1,downstream_gene_variant,,ENST00000499762,;A2M,intron_variant,,ENST00000543436,;LINC00612,upstream_gene_variant,,ENST00000538094,;A2M,downstream_gene_variant,,ENST00000545828,;A2M,splice_donor_variant,,ENST00000495442,;A2M,splice_donor_variant,,ENST00000495709,; T ENSG00000175899 ENST00000318602 Transcript splice_donor_variant rs111819233 1 -1 A2M HGNC HGNC:7 protein_coding YES CCDS44827.1 ENSP00000323929 P01023 UPI000014038F NM_000014.4,NM_001347423.1 34/35 HIGH 1 SNV 1 1 PASS ACC . . 9068739 EIF2S3B . GRCh38 chr12 10506276 10506276 + Missense_Mutation SNP G G A rs2230568 7316-2156 BS_H9813KRS G G c.374G>A p.Arg125Lys p.R125K ENST00000538173 1/1 140 129 10 37 37 0 EIF2S3B,missense_variant,p.Arg125Lys,ENST00000322446,;EIF2S3B,missense_variant,p.Arg125Lys,ENST00000538173,; A ENSG00000180574 ENST00000538173 Transcript missense_variant 387/1602 374/1419 125/472 R/K aGa/aAa rs2230568 1 1 EIF2S3B HGNC HGNC:43863 protein_coding YES ENSP00000445077 Q2VIR3 UPI0000140E1D tolerated(1) benign(0) 1/1 PROSITE_profiles:PS51722,cd01888,hmmpanther:PTHR42854:SF5,hmmpanther:PTHR42854,Gene3D:3.40.50.300,Pfam_domain:PF00009 MODERATE 1 SNV PASS AGA . . 0.0001056 0.0001307 0.0004766 2.685e-05 0.0007297 3.249e-05 10506276 H3F3C . GRCh38 chr12 31791855 31791855 + Missense_Mutation SNP C C G rs765335762 7316-2156 BS_H9813KRS C C c.312G>C p.Leu104Phe p.L104F ENST00000340398 1/1 130 94 33 35 35 0 H3F3C,missense_variant,p.Leu104Phe,ENST00000340398,NM_001013699.2;,regulatory_region_variant,,ENSR00000050615,; G ENSG00000188375 ENST00000340398 Transcript missense_variant 387/1057 312/408 104/135 L/F ttG/ttC rs765335762,COSM5799135 1 -1 H3F3C HGNC HGNC:33164 protein_coding YES CCDS31769.1 ENSP00000339835 Q6NXT2 UPI0000185FBF NM_001013699.2 tolerated_low_confidence(1) benign(0) 1/1 PDB-ENSP_mappings:4z5t.A,PDB-ENSP_mappings:4z5t.E,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622 0,1 MODERATE 1 SNV 0,1 PASS CCA . . 31791855 H3F3C . GRCh38 chr12 31791902 31791902 + Missense_Mutation SNP C C T rs148314204 7316-2156 BS_H9813KRS C C c.265G>A p.Val89Ile p.V89I ENST00000340398 1/1 136 94 39 29 29 0 H3F3C,missense_variant,p.Val89Ile,ENST00000340398,NM_001013699.2;,regulatory_region_variant,,ENSR00000050615,; T ENSG00000188375 ENST00000340398 Transcript missense_variant 340/1057 265/408 89/135 V/I Gtc/Atc rs148314204,COSM693346 1 -1 H3F3C HGNC HGNC:33164 protein_coding YES CCDS31769.1 ENSP00000339835 Q6NXT2 UPI0000185FBF NM_001013699.2 tolerated_low_confidence(1) benign(0) 1/1 PDB-ENSP_mappings:4z5t.A,PDB-ENSP_mappings:4z5t.E,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622 0.000227 0,1 MODERATE 1 SNV 0,1 PASS ACG . . 2.03e-05 0.0003267 31791902 H3F3C . GRCh38 chr12 31791930 31791930 + Missense_Mutation SNP G G T rs768711923 7316-2156 BS_H9813KRS G G c.237C>A p.Asn79Lys p.N79K ENST00000340398 1/1 117 93 20 35 34 0 H3F3C,missense_variant,p.Asn79Lys,ENST00000340398,NM_001013699.2;,regulatory_region_variant,,ENSR00000050615,; T ENSG00000188375 ENST00000340398 Transcript missense_variant 312/1057 237/408 79/135 N/K aaC/aaA rs768711923,COSM5620926 1 -1 H3F3C HGNC HGNC:33164 protein_coding YES CCDS31769.1 ENSP00000339835 Q6NXT2 UPI0000185FBF NM_001013699.2 tolerated_low_confidence(1) benign(0) 1/1 PDB-ENSP_mappings:4z5t.A,PDB-ENSP_mappings:4z5t.E,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622 0,1 MODERATE 1 SNV 0,1 PASS TGT . . 31791930 H3F3C . GRCh38 chr12 31792055 31792056 + In_Frame_Ins INS - - CTT rs879122881 7316-2156 BS_H9813KRS - - c.109_111dup p.Lys37dup p.K37dup ENST00000340398 1/1 127 94 19 44 42 0 H3F3C,inframe_insertion,p.Lys37dup,ENST00000340398,NM_001013699.2;,regulatory_region_variant,,ENSR00000050615,; CTT ENSG00000188375 ENST00000340398 Transcript inframe_insertion 186-187/1057 111-112/408 37-38/135 -/K -/AAG rs879122881 1 -1 H3F3C HGNC HGNC:33164 protein_coding YES CCDS31769.1 ENSP00000339835 Q6NXT2 UPI0000185FBF NM_001013699.2 1/1 PDB-ENSP_mappings:4z5t.A,PDB-ENSP_mappings:4z5t.E,mobidb-lite,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622 MODERATE 1 insertion PASS GGC . . 31792055 KMT2D . GRCh38 chr12 49041040 49041040 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.6730T>G p.Phe2244Val p.F2244V ENST00000301067 31/54 102 85 11 34 33 0 KMT2D,missense_variant,p.Phe2244Val,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,; C ENSG00000167548 ENST00000301067 Transcript missense_variant 6730/19419 6730/16614 2244/5537 F/V Ttc/Gtc 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 deleterious(0) possibly_damaging(0.815) 31/54 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,mobidb-lite MODERATE 1 SNV 5 1 PASS AAT . . 49041040 C1QL4 . GRCh38 chr12 49336309 49336309 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.169A>C p.Lys57Gln p.K57Q ENST00000334221 1/2 96 85 7 44 43 0 C1QL4,missense_variant,p.Lys57Gln,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000257909,NM_005480.3;TROAP,downstream_gene_variant,,ENST00000547923,;TROAP,downstream_gene_variant,,ENST00000551245,;,regulatory_region_variant,,ENSR00000051609,; G ENSG00000186897 ENST00000334221 Transcript missense_variant 880/2071 169/717 57/238 K/Q Aag/Cag 1 -1 C1QL4 HGNC HGNC:31416 protein_coding YES CCDS31793.1 ENSP00000335285 Q86Z23 UPI00000033B3 NM_001008223.1 tolerated(0.25) benign(0) 1/2 hmmpanther:PTHR22923,hmmpanther:PTHR22923:SF67,mobidb-lite MODERATE 1 SNV 1 PASS TTG . . 49336309 NCKAP5L . GRCh38 chr12 49794844 49794844 + Missense_Mutation SNP T T G rs1224256772 7316-2156 BS_H9813KRS T T c.3016A>C p.Thr1006Pro p.T1006P ENST00000335999 8/13 101 92 7 35 35 0 NCKAP5L,missense_variant,p.Thr1006Pro,ENST00000335999,NM_001037806.3;NCKAP5L,missense_variant,p.Thr721Pro,ENST00000433948,; G ENSG00000167566 ENST00000335999 Transcript missense_variant 3218/4900 3016/4005 1006/1334 T/P Acg/Ccg rs1224256772 1 -1 NCKAP5L HGNC HGNC:29321 protein_coding YES CCDS41781.2 ENSP00000337998 Q9HCH0 UPI00006C1298 NM_001037806.3 tolerated(0.2) benign(0) 8/13 Pfam_domain:PF15246,hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF3,mobidb-lite MODERATE 1 SNV 5 PASS GTG . . 7.866e-06 1.915e-05 49794844 FAM186A . GRCh38 chr12 50353288 50353288 + Missense_Mutation SNP G G T rs1336929421 7316-2156 BS_H9813KRS G G c.3544C>A p.Pro1182Thr p.P1182T ENST00000327337 4/8 82 49 19 41 38 0 FAM186A,missense_variant,p.Pro1182Thr,ENST00000543111,;FAM186A,missense_variant,p.Pro1182Thr,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; T ENSG00000185958 ENST00000327337 Transcript missense_variant 3544/7127 3544/7056 1182/2351 P/T Cct/Act rs1336929421,COSM940343 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0.047) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 8.101e-06 6.425e-05 50353288 COQ10A . GRCh38 chr12 56267248 56267248 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.130A>C p.Met44Leu p.M44L ENST00000308197 1/5 91 74 7 44 43 0 COQ10A,missense_variant,p.Met44Leu,ENST00000308197,NM_144576.3;CS,downstream_gene_variant,,ENST00000351328,NM_004077.2;COQ10A,upstream_gene_variant,,ENST00000433805,NM_001099337.1;COQ10A,upstream_gene_variant,,ENST00000546544,;CS,downstream_gene_variant,,ENST00000548567,;CS,downstream_gene_variant,,ENST00000548746,;COQ10A,upstream_gene_variant,,ENST00000551814,;COQ10A,upstream_gene_variant,,ENST00000553234,;AC073896.5,downstream_gene_variant,,ENST00000546464,;COQ10A,non_coding_transcript_exon_variant,,ENST00000551911,;COQ10A,non_coding_transcript_exon_variant,,ENST00000551566,;COQ10A,upstream_gene_variant,,ENST00000546614,;CS,downstream_gene_variant,,ENST00000549143,;COQ10A,upstream_gene_variant,,ENST00000549545,;COQ10A,upstream_gene_variant,,ENST00000550071,;,regulatory_region_variant,,ENSR00000052497,; C ENSG00000135469 ENST00000308197 Transcript missense_variant 391/1652 130/744 44/247 M/L Atg/Ctg 1 1 COQ10A HGNC HGNC:26515 protein_coding YES CCDS41796.1 ENSP00000312587 Q96MF6 UPI000013CF99 NM_144576.3 tolerated(0.34) benign(0) 1/5 hmmpanther:PTHR12901,hmmpanther:PTHR12901:SF8 MODERATE 1 SNV 1 PASS AAT . . 56267248 LRP1 . GRCh38 chr12 57156774 57156774 + Splice_Region SNP C C G novel 7316-2156 BS_H9813KRS C C c.1418-3C>G ENST00000243077 122 109 6 37 35 0 LRP1,splice_region_variant,,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000554174,; G ENSG00000123384 ENST00000243077 Transcript splice_region_variant,intron_variant 1 1 LRP1 HGNC HGNC:6692 protein_coding YES CCDS8932.1 ENSP00000243077 Q07954 UPI00001B044F NM_002332.2 9/88 LOW 1 SNV 1 1 PASS CCA . . 57156774 LRP1 . GRCh38 chr12 57200536 57200536 + Splice_Site SNP G G C rs1419032209 7316-2156 BS_H9813KRS G G c.10108+1G>C p.X3370_splice ENST00000243077 116 90 22 36 36 0 LRP1,splice_donor_variant,,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000555124,;LRP1,splice_donor_variant,,ENST00000555941,;LRP1,upstream_gene_variant,,ENST00000451724,;LRP1,upstream_gene_variant,,ENST00000556247,;LRP1,upstream_gene_variant,,ENST00000556356,; C ENSG00000123384 ENST00000243077 Transcript splice_donor_variant rs1419032209,COSM3931702 1 1 LRP1 HGNC HGNC:6692 protein_coding YES CCDS8932.1 ENSP00000243077 Q07954 UPI00001B044F NM_002332.2 63/88 0,1 HIGH 1 SNV 1 0,1 1 PASS CGT . . 57200536 LRP1 . GRCh38 chr12 57210482 57210482 + Splice_Site SNP T T C rs1309576495 7316-2156 BS_H9813KRS T T c.12754+2T>C p.X4252_splice ENST00000243077 124 99 18 38 36 0 LRP1,splice_donor_variant,,ENST00000243077,NM_002332.2;LRP1,splice_donor_variant,,ENST00000556356,;LRP1,downstream_gene_variant,,ENST00000451724,; C ENSG00000123384 ENST00000243077 Transcript splice_donor_variant rs1309576495 1 1 LRP1 HGNC HGNC:6692 protein_coding YES CCDS8932.1 ENSP00000243077 Q07954 UPI00001B044F NM_002332.2 82/88 HIGH 1 SNV 1 1 PASS GTA . . 57210482 LRP1 . GRCh38 chr12 57211486 57211486 + Splice_Site SNP G G A rs879128061 7316-2156 BS_H9813KRS G G c.13092-1G>A p.X4364_splice ENST00000243077 134 110 20 28 28 0 LRP1,splice_acceptor_variant,,ENST00000243077,NM_002332.2;LRP1,splice_acceptor_variant,,ENST00000556356,; A ENSG00000123384 ENST00000243077 Transcript splice_acceptor_variant rs879128061 1 1 LRP1 HGNC HGNC:6692 protein_coding YES CCDS8932.1 ENSP00000243077 Q07954 UPI00001B044F NM_002332.2 84/88 HIGH 1 SNV 1 1 PASS AGC . . 57211486 HCFC2 . GRCh38 chr12 104064673 104064673 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.113T>G p.Phe38Cys p.F38C ENST00000229330 1/15 97 81 11 36 35 0 HCFC2,missense_variant,p.Phe38Cys,ENST00000229330,NM_013320.2;GLT8D2,upstream_gene_variant,,ENST00000548660,NM_001316967.1;HCFC2,upstream_gene_variant,,ENST00000550444,;HCFC2,missense_variant,p.Phe38Cys,ENST00000544223,;,regulatory_region_variant,,ENSR00000056493,; G ENSG00000111727 ENST00000229330 Transcript missense_variant 217/5734 113/2379 38/792 F/C tTt/tGt 1 1 HCFC2 HGNC HGNC:24972 protein_coding YES CCDS9097.1 ENSP00000229330 Q9Y5Z7 UPI000006CF31 NM_013320.2 deleterious(0) benign(0.371) 1/15 Gene3D:2.120.10.80,Pfam_domain:PF01344,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF325,Superfamily_domains:SSF50965 MODERATE 1 SNV 1 PASS TTT . . 104064673 ISCU . GRCh38 chr12 108562657 108562657 + Missense_Mutation SNP C C T rs2287555 7316-2156 BS_H9813KRS C C c.35C>T p.Ala12Val p.A12V ENST00000311893 1/5 116 104 7 34 34 0 ISCU,missense_variant,p.Ala12Val,ENST00000535729,NM_001320042.1;ISCU,missense_variant,p.Ala12Val,ENST00000539593,;ISCU,missense_variant,p.Ala12Val,ENST00000311893,NM_213595.3;ISCU,missense_variant,p.Ala12Val,ENST00000431221,NM_001301141.1;ISCU,missense_variant,p.Ala12Val,ENST00000547005,NM_001301140.1;ISCU,5_prime_UTR_variant,,ENST00000392807,NM_014301.4;SART3,upstream_gene_variant,,ENST00000228284,NM_014706.3;SART3,upstream_gene_variant,,ENST00000431469,;SART3,upstream_gene_variant,,ENST00000546611,;SART3,upstream_gene_variant,,ENST00000546815,;SART3,upstream_gene_variant,,ENST00000552221,;ISCU,missense_variant,p.Ala12Val,ENST00000539580,;ISCU,non_coding_transcript_exon_variant,,ENST00000545932,;ISCU,non_coding_transcript_exon_variant,,ENST00000535405,;ISCU,non_coding_transcript_exon_variant,,ENST00000552072,;ISCU,upstream_gene_variant,,ENST00000544493,;SART3,upstream_gene_variant,,ENST00000546728,;SART3,upstream_gene_variant,,ENST00000547528,;,regulatory_region_variant,,ENSR00000057052,; T ENSG00000136003 ENST00000311893 Transcript missense_variant 57/994 35/504 12/167 A/V gCg/gTg rs2287555,COSM4146517,COSM1605524 1 1 ISCU HGNC HGNC:29882 protein_coding YES CCDS44966.1 ENSP00000310623 Q9H1K1 UPI000021CA9A NM_213595.3 tolerated_low_confidence(0.31) possibly_damaging(0.75) 1/5 Low_complexity_(Seg):seg 0.292 0.4265 0.5546 0.6799 0.6309 0.461 0.6896 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS GCG . . 0.5866 0.2707 0.3979 0.6563 0.6357 0.6744 0.6581 0.6189 0.6204 108562657 SVOP . GRCh38 chr12 108912582 108912582 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.1600A>C p.Met534Leu p.M534L ENST00000610966 16/16 110 95 13 30 29 0 SVOP,missense_variant,p.Met534Leu,ENST00000610966,NM_018711.4; G ENSG00000166111 ENST00000610966 Transcript missense_variant 1972/6813 1600/1647 534/548 M/L Atg/Ctg 1 -1 SVOP HGNC HGNC:25417 protein_coding YES CCDS73520.1 ENSP00000479104 Q8N4V2 UPI000006E50F NM_018711.4 tolerated_low_confidence(0.16) benign(0.003) 16/16 MODERATE 1 SNV 1 PASS ATT . . 108912582 FOXN4 . GRCh38 chr12 109285312 109285312 + Missense_Mutation SNP G G C rs749741599 7316-2156 BS_H9813KRS G G c.893C>G p.Ala298Gly p.A298G ENST00000299162 8/10 85 66 7 37 35 0 FOXN4,missense_variant,p.Ala298Gly,ENST00000299162,NM_213596.2;FOXN4,missense_variant,p.Ala118Gly,ENST00000355216,;FOXN4,intron_variant,,ENST00000468516,;FOXN4,synonymous_variant,p.Gly216=,ENST00000423960,; C ENSG00000139445 ENST00000299162 Transcript missense_variant 998/3350 893/1554 298/517 A/G gCc/gGc rs749741599,COSM6213515,COSM6213514 1 -1 FOXN4 HGNC HGNC:21399 protein_coding YES CCDS9126.2 ENSP00000299162 Q96NZ1 UPI0000551BEE NM_213596.2 deleterious(0) probably_damaging(0.98) 8/10 hmmpanther:PTHR13962,hmmpanther:PTHR13962:SF17 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGC . . 109285312 RASAL1 . GRCh38 chr12 113105860 113105860 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1687T>G p.Phe563Val p.F563V ENST00000546530 17/22 114 97 15 37 36 0 RASAL1,missense_variant,p.Phe563Val,ENST00000546530,NM_001193520.1;RASAL1,missense_variant,p.Phe561Val,ENST00000261729,NM_004658.2;RASAL1,missense_variant,p.Phe561Val,ENST00000446861,NM_001193521.1;RASAL1,missense_variant,p.Phe562Val,ENST00000548055,NM_001301202.1;RASAL1,non_coding_transcript_exon_variant,,ENST00000418411,;RASAL1,downstream_gene_variant,,ENST00000548972,;RASAL1,upstream_gene_variant,,ENST00000549444,;RASAL1,non_coding_transcript_exon_variant,,ENST00000551051,;RASAL1,non_coding_transcript_exon_variant,,ENST00000546727,; C ENSG00000111344 ENST00000546530 Transcript missense_variant 1973/3817 1687/2421 563/806 F/V Ttc/Gtc 1 -1 RASAL1 HGNC HGNC:9873 protein_coding YES CCDS55889.1 ENSP00000450244 O95294 UPI0001DD37FE NM_001193520.1 tolerated(0.62) benign(0.003) 17/22 hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF3,Gene3D:2.30.29.30,SMART_domains:SM00323,Superfamily_domains:SSF48350 MODERATE 1 SNV 1 PASS AAC . . 113105860 CFAP73 . GRCh38 chr12 113153227 113153227 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.287A>C p.Asn96Thr p.N96T ENST00000335621 4/8 110 92 16 35 34 0 CFAP73,missense_variant,p.Asn96Thr,ENST00000335621,NM_001144872.1;DDX54,downstream_gene_variant,,ENST00000306014,NM_024072.3;DDX54,downstream_gene_variant,,ENST00000314045,NM_001111322.1;CFAP73,upstream_gene_variant,,ENST00000550918,;RF00019,downstream_gene_variant,,ENST00000363029,;CFAP73,non_coding_transcript_exon_variant,,ENST00000551256,;,regulatory_region_variant,,ENSR00000057588,; C ENSG00000186710 ENST00000335621 Transcript missense_variant 287/1514 287/927 96/308 N/T aAt/aCt 1 1 CFAP73 HGNC HGNC:37100 protein_coding YES CCDS44983.1 ENSP00000333915 A6NFT4 UPI000192950B NM_001144872.1 tolerated(0.22) benign(0.026) 4/8 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21683,hmmpanther:PTHR21683:SF9,Pfam_domain:PF13863 MODERATE SNV 5 PASS AAT . . 113153227 SPPL3 . GRCh38 chr12 120903846 120903846 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.22T>G p.Trp8Gly p.W8G ENST00000353487 1/11 112 83 9 35 32 0 SPPL3,missense_variant,p.Trp8Gly,ENST00000353487,NM_139015.4;SPPL3,upstream_gene_variant,,ENST00000536996,;SPPL3,upstream_gene_variant,,ENST00000543608,;SPPL3,upstream_gene_variant,,ENST00000543854,;,regulatory_region_variant,,ENSR00000058371,; C ENSG00000157837 ENST00000353487 Transcript missense_variant,splice_region_variant 526/4148 22/1155 8/384 W/G Tgg/Ggg 1 -1 SPPL3 HGNC HGNC:30424 protein_coding YES CCDS9208.1 ENSP00000288680 Q8TCT6 UPI0000013590 NM_139015.4 deleterious(0.02) benign(0.095) 1/11 hmmpanther:PTHR12174:SF22,hmmpanther:PTHR12174 MODERATE 1 SNV 1 PASS CAC . . 120903846 NCOR2 . GRCh38 chr12 124567306 124567306 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.-165+2T>G ENST00000458234 91 80 6 24 23 0 NCOR2,splice_donor_variant,,ENST00000458234,;NCOR2,splice_donor_variant,,ENST00000542565,;,regulatory_region_variant,,ENSR00000058911,; C ENSG00000196498 ENST00000458234 Transcript splice_donor_variant 1 -1 NCOR2 HGNC HGNC:7673 protein_coding ENSP00000402808 C9JQE8 UPI00016113C9 1/32 HIGH 1 SNV 1 1 PASS CAC . . 124567306 EP400 . GRCh38 chr12 131982246 131982246 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.1697T>G p.Val566Gly p.V566G ENST00000389562 4/52 127 115 10 42 42 0 EP400,missense_variant,p.Val566Gly,ENST00000389562,;EP400,missense_variant,p.Val566Gly,ENST00000389561,NM_015409.4;EP400,missense_variant,p.Val602Gly,ENST00000333577,;EP400,missense_variant,p.Val529Gly,ENST00000332482,; G ENSG00000183495 ENST00000389562 Transcript missense_variant 1732/12836 1697/9372 566/3123 V/G gTt/gGt 1 1 EP400 HGNC HGNC:11958 protein_coding YES CCDS31929.2 ENSP00000374213 Q96L91 UPI00004566BC deleterious_low_confidence(0.03) benign(0.124) 4/52 hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF599 MODERATE 1 SNV 1 PASS GTT . . 131982246 GOLGA3 . GRCh38 chr12 132808278 132808278 + Missense_Mutation SNP G G A rs3741486 7316-2156 BS_H9813KRS G G c.791C>T p.Pro264Leu p.P264L ENST00000204726 5/24 117 109 6 42 40 0 GOLGA3,missense_variant,p.Pro264Leu,ENST00000204726,NM_005895.3;GOLGA3,missense_variant,p.Pro264Leu,ENST00000450791,;GOLGA3,missense_variant,p.Pro264Leu,ENST00000456883,;GOLGA3,missense_variant,p.Pro264Leu,ENST00000545875,NM_001172557.1; A ENSG00000090615 ENST00000204726 Transcript missense_variant 1350/9252 791/4497 264/1498 P/L cCg/cTg rs3741486,COSM4418635,COSM4418634,COSM4418633 1 -1 GOLGA3 HGNC HGNC:4426 protein_coding YES CCDS9281.1 ENSP00000204726 Q08378 UPI0000190979 NM_005895.3 tolerated_low_confidence(0.55) benign(0) 5/24 hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF26,mobidb-lite 0.1420 0.0106 0.1571 0.1736 0.2813 0.1329 0.05107 0.2976 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS CGG . . 0.2249 0.04286 0.118 0.2625 0.1874 0.2484 0.3039 0.2352 0.1358 132808278 PDX1 . GRCh38 chr13 27920286 27920286 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.148T>G p.Phe50Val p.F50V ENST00000381033 1/2 101 82 16 41 41 0 PDX1,missense_variant,p.Phe50Val,ENST00000381033,NM_000209.3;PLUT,upstream_gene_variant,,ENST00000499662,; G ENSG00000139515 ENST00000381033 Transcript missense_variant 267/2501 148/852 50/283 F/V Ttc/Gtc 1 1 PDX1 HGNC HGNC:6107 protein_coding YES CCDS9327.1 ENSP00000370421 P52945 UPI000012D7D9 NM_000209.3 tolerated(0.23) benign(0.007) 1/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24326:SF36,hmmpanther:PTHR24326 MODERATE 1 SNV 1 1 PASS GTT . . 27920286 CSNK1A1L . GRCh38 chr13 37104445 37104445 + Missense_Mutation SNP A A G rs878993666 7316-2156 BS_H9813KRS A A c.812T>C p.Val271Ala p.V271A ENST00000379800 1/1 124 113 8 49 49 0 CSNK1A1L,missense_variant,p.Val271Ala,ENST00000379800,NM_145203.5; G ENSG00000180138 ENST00000379800 Transcript missense_variant 1220/2406 812/1014 271/337 V/A gTc/gCc rs878993666 1 -1 CSNK1A1L HGNC HGNC:20289 protein_coding YES CCDS9363.1 ENSP00000369126 Q8N752 UPI000003C95C NM_145203.5 tolerated_low_confidence(0.72) benign(0) 1/1 PROSITE_profiles:PS50011,cd14128,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF139,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112 MODERATE 1 SNV PASS GAC . . 37104445 TPT1 . GRCh38 chr13 45340187 45340187 + Splice_Region SNP G G T rs111635028 7316-2156 BS_H9813KRS G G c.103-3C>A ENST00000616577 121 109 10 37 37 0 TPT1,splice_region_variant,,ENST00000309246,;TPT1,splice_region_variant,,ENST00000379055,;TPT1,splice_region_variant,,ENST00000379056,NM_001286273.1;TPT1,splice_region_variant,,ENST00000379060,;TPT1,splice_region_variant,,ENST00000527226,;TPT1,splice_region_variant,,ENST00000530705,NM_003295.3;TPT1,splice_region_variant,,ENST00000616577,NM_001286272.1;TPT1,upstream_gene_variant,,ENST00000528619,;TPT1,upstream_gene_variant,,ENST00000530245,;SNORA31,upstream_gene_variant,,ENST00000362607,;RF00322,upstream_gene_variant,,ENST00000517242,;AL138963.3,non_coding_transcript_exon_variant,,ENST00000610057,;TPT1-AS1,upstream_gene_variant,,ENST00000412946,;TPT1-AS1,upstream_gene_variant,,ENST00000517509,;TPT1-AS1,upstream_gene_variant,,ENST00000520310,;TPT1-AS1,upstream_gene_variant,,ENST00000520590,;TPT1-AS1,upstream_gene_variant,,ENST00000520622,;TPT1-AS1,upstream_gene_variant,,ENST00000521336,;TPT1-AS1,upstream_gene_variant,,ENST00000521507,;TPT1-AS1,upstream_gene_variant,,ENST00000523445,;TPT1-AS1,upstream_gene_variant,,ENST00000523506,;TPT1-AS1,upstream_gene_variant,,ENST00000618947,;TPT1,splice_region_variant,,ENST00000529421,;TPT1,splice_region_variant,,ENST00000490277,;TPT1,non_coding_transcript_exon_variant,,ENST00000442760,;TPT1,non_coding_transcript_exon_variant,,ENST00000533567,;TPT1,upstream_gene_variant,,ENST00000484604,;TPT1-AS1,upstream_gene_variant,,ENST00000520924,;TPT1-AS1,upstream_gene_variant,,ENST00000522859,;TPT1-AS1,upstream_gene_variant,,ENST00000524062,;,regulatory_region_variant,,ENSR00000062295,; T ENSG00000133112 ENST00000616577 Transcript splice_region_variant,intron_variant rs111635028 1 -1 TPT1 HGNC HGNC:12022 protein_coding YES CCDS73566.1 ENSP00000477781 A0A0B4J2C3 UPI000004A048 NM_001286272.1 2/5 LOW SNV 3 PASS TGC . . 45340187 LRCH1 . GRCh38 chr13 46553511 46553511 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.115A>C p.Thr39Pro p.T39P ENST00000389797 1/20 102 86 10 28 27 0 LRCH1,missense_variant,p.Thr39Pro,ENST00000311191,NM_001164213.1;LRCH1,missense_variant,p.Thr39Pro,ENST00000389798,NM_015116.2;LRCH1,missense_variant,p.Thr39Pro,ENST00000389797,NM_001164211.1;LRCH1,non_coding_transcript_exon_variant,,ENST00000443945,;,regulatory_region_variant,,ENSR00000062417,; C ENSG00000136141 ENST00000389797 Transcript missense_variant 252/3314 115/2292 39/763 T/P Acc/Ccc 1 1 LRCH1 HGNC HGNC:20309 protein_coding YES CCDS53865.1 ENSP00000374447 Q9Y2L9 UPI00015DFE06 NM_001164211.1 tolerated_low_confidence(0.33) benign(0.095) 1/20 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44283,hmmpanther:PTHR44283:SF2 MODERATE 1 SNV 1 PASS AAC . . 46553511 NDFIP2 . GRCh38 chr13 79481376 79481376 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.173A>C p.Asn58Thr p.N58T ENST00000612570 1/8 123 102 14 32 31 0 NDFIP2,missense_variant,p.Asn58Thr,ENST00000612570,NM_001161407.1,NM_019080.2;NDFIP2,missense_variant,p.Asn58Thr,ENST00000218652,;NDFIP2,upstream_gene_variant,,ENST00000487865,;NDFIP2,upstream_gene_variant,,ENST00000620924,;NDFIP2-AS1,upstream_gene_variant,,ENST00000457171,;NDFIP2,upstream_gene_variant,,ENST00000465762,;,regulatory_region_variant,,ENSR00000064127,; C ENSG00000102471 ENST00000612570 Transcript missense_variant 253/4648 173/1011 58/336 N/T aAc/aCc 1 1 NDFIP2 HGNC HGNC:18537 protein_coding YES CCDS31998.1 ENSP00000480798 Q9NV92 UPI000015F962 NM_001161407.1,NM_019080.2 tolerated_low_confidence(0.08) benign(0) 1/8 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 79481376 ARGLU1 . GRCh38 chr13 106567733 106567733 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.187A>C p.Thr63Pro p.T63P ENST00000400198 1/4 105 87 12 43 40 1 ARGLU1,missense_variant,p.Thr63Pro,ENST00000400198,NM_018011.3;ARGLU1,upstream_gene_variant,,ENST00000360629,;,regulatory_region_variant,,ENSR00000065521,; G ENSG00000134884 ENST00000400198 Transcript missense_variant 432/3390 187/822 63/273 T/P Acg/Ccg 1 -1 ARGLU1 HGNC HGNC:25482 protein_coding YES CCDS41906.1 ENSP00000383059 Q9NWB6 A0A024RDW4 UPI00000373ED NM_018011.3 tolerated(0.22) benign(0.009) 1/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR31711:SF1,hmmpanther:PTHR31711 MODERATE 1 SNV 1 PASS GTG . . 106567733 COL4A1 . GRCh38 chr13 110307009 110307009 + Missense_Mutation SNP C C G rs9515185 7316-2156 BS_H9813KRS C C c.19G>C p.Val7Leu p.V7L ENST00000375820 1/52 131 117 10 34 34 0 COL4A1,missense_variant,p.Val7Leu,ENST00000375820,NM_001845.5;COL4A1,missense_variant,p.Val7Leu,ENST00000543140,NM_001303110.1;COL4A2,intron_variant,,ENST00000400163,;COL4A2,upstream_gene_variant,,ENST00000360467,NM_001846.2;COL4A2,upstream_gene_variant,,ENST00000480771,;,regulatory_region_variant,,ENSR00000065805,; G ENSG00000187498 ENST00000375820 Transcript missense_variant 141/6532 19/5010 7/1669 V/L Gtc/Ctc rs9515185,COSM3753578,COSM3753577 1 -1 COL4A1 HGNC HGNC:2202 protein_coding YES CCDS9511.1 ENSP00000364979 P02462 UPI000004981D NM_001845.5 tolerated(1) benign(0.001) 1/52 Cleavage_site_(Signalp):SignalP-noTM 0.4241 0.233 0.4063 0.6161 0.4235 0.498 benign 0,1,1 25741868,21527998 MODERATE 1 SNV 1 1,1,1 1 PASS ACG . . 0.4357 0.257 0.3939 0.5534 0.6334 0.2835 0.4172 0.4658 0.4661 110307009 COL4A2 . GRCh38 chr13 110458888 110458888 + Missense_Mutation SNP G G A rs7990383 7316-2156 BS_H9813KRS G G c.1550G>A p.Arg517Lys p.R517K ENST00000360467 22/48 121 102 12 41 40 0 COL4A2,missense_variant,p.Arg517Lys,ENST00000360467,NM_001846.2;COL4A2,coding_sequence_variant,p.Ter1=,ENST00000617564,;COL4A2-AS2,intron_variant,,ENST00000458403,NM_001267044.1;COL4A2,upstream_gene_variant,,ENST00000478681,; A ENSG00000134871 ENST00000360467 Transcript missense_variant 1856/6281 1550/5139 517/1712 R/K aGa/aAa rs7990383,COSM3931786 1 1 COL4A2 HGNC HGNC:2203 protein_coding YES CCDS41907.1 ENSP00000353654 P08572 A0A024RDW8 UPI000041C713 NM_001846.2 tolerated(0.99) benign(0) 22/48 mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF588,Gene3D:2.160.20.50,Pfam_domain:PF01391 0.5092 0.7171 0.5 0.2232 0.5964 0.4397 0.6942 0.6068 benign 0,1 21527998,26982741 MODERATE SNV 5 1,1 1 PASS AGA . . 0.5238 0.6899 0.3871 0.6654 0.2306 0.4439 0.6023 0.5458 0.4808 110458888 COL4A2 . GRCh38 chr13 110495338 110495338 + Splice_Region SNP A A C rs536636278 7316-2156 BS_H9813KRS A A c.3635-4A>C ENST00000360467 88 82 6 36 36 0 COL4A2,splice_region_variant,,ENST00000360467,NM_001846.2; C ENSG00000134871 ENST00000360467 Transcript splice_region_variant,intron_variant rs536636278 1 1 COL4A2 HGNC HGNC:2203 protein_coding YES CCDS41907.1 ENSP00000353654 P08572 A0A024RDW8 UPI000041C713 NM_001846.2 39/47 0.0002 0.001 LOW 1 SNV 5 1 PASS CAC . . 0.0001518 0.0001309 2.978e-05 4.486e-05 0.0002929 0.0001831 110495338 CHAMP1 . GRCh38 chr13 114314645 114314645 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.-179+2T>G ENST00000361283 76 65 8 40 39 1 CHAMP1,splice_donor_variant,,ENST00000361283,NM_001164145.1,NM_032436.2,NM_001164144.1;CHAMP1,splice_donor_variant,,ENST00000463003,;CHAMP1,splice_donor_variant,,ENST00000644294,;CHAMP1,splice_donor_variant,,ENST00000645174,;CHAMP1,splice_donor_variant,,ENST00000478022,;CHAMP1,splice_donor_variant,,ENST00000646155,;CHAMP1,splice_donor_variant,,ENST00000646956,;,regulatory_region_variant,,ENSR00000066304,; G ENSG00000198824 ENST00000361283 Transcript splice_donor_variant 1 1 CHAMP1 HGNC HGNC:20311 protein_coding CCDS9545.1 ENSP00000354730 Q96JM3 UPI00001C1F5B NM_001164145.1,NM_032436.2,NM_001164144.1 1/2 HIGH 1 SNV 1 1 PASS GTG . . 114314645 MMP14 . GRCh38 chr14 22843385 22843385 + Missense_Mutation SNP G G A rs1042704 7316-2156 BS_H9813KRS G G c.817G>A p.Asp273Asn p.D273N ENST00000311852 5/10 145 133 8 46 45 0 MMP14,missense_variant,p.Asp273Asn,ENST00000311852,NM_004995.3;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,non_coding_transcript_exon_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547074,;MMP14,downstream_gene_variant,,ENST00000547596,; A ENSG00000157227 ENST00000311852 Transcript missense_variant 1078/3732 817/1749 273/582 D/N Gat/Aat rs1042704,COSM3753885 1 1 MMP14 HGNC HGNC:7160 protein_coding YES CCDS9577.1 ENSP00000308208 P50281 UPI0000048136 NM_004995.3 tolerated(0.18) benign(0.006) 5/10 PDB-ENSP_mappings:1bqq.M,PDB-ENSP_mappings:1buv.M,PDB-ENSP_mappings:3ma2.A,PDB-ENSP_mappings:3ma2.D,PDB-ENSP_mappings:5h0u.A,cd04278,Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF24,Prints_domain:PR00138 0.1098 0.0091 0.1311 0.0258 0.1988 0.226 0.04471 0.2031 0,1 18784838,20660624,29138529,28886342 MODERATE 1 SNV 1 1,1 1 PASS CGA . . 0.1648 0.03425 0.1052 0.1416 0.01861 0.2077 0.2008 0.1499 0.225 22843385 LRP10 . GRCh38 chr14 22877373 22877373 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.1988T>G p.Leu663Trp p.L663W ENST00000359591 7/7 133 116 6 33 33 0 LRP10,missense_variant,p.Leu663Trp,ENST00000359591,NM_014045.3;LRP10,intron_variant,,ENST00000546834,;LRP10,intron_variant,,ENST00000551466,;LRP10,intron_variant,,ENST00000470660,;LRP10,downstream_gene_variant,,ENST00000553002,; G ENSG00000197324 ENST00000359591 Transcript missense_variant 2679/6886 1988/2142 663/713 L/W tTg/tGg 1 1 LRP10 HGNC HGNC:14553 protein_coding YES CCDS9578.1 ENSP00000352601 Q7Z4F1 UPI000000CC06 NM_014045.3 deleterious(0.01) possibly_damaging(0.533) 7/7 Low_complexity_(Seg):seg,hmmpanther:PTHR44062:SF3,hmmpanther:PTHR44062 MODERATE 1 SNV 1 PASS TTG . . 22877373 AL136295.3 . GRCh38 chr14 24131562 24131562 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.583A>C p.Asn195Thr p.N195T ENST00000558325 4/4 115 85 15 41 40 0 AL136295.3,missense_variant,p.Asn195Thr,ENST00000558325,;FITM1,5_prime_UTR_variant,,ENST00000267426,NM_203402.2;PSME1,upstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;PSME1,upstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,upstream_gene_variant,,ENST00000559123,;FITM1,upstream_gene_variant,,ENST00000559294,;PSME1,upstream_gene_variant,,ENST00000561435,NM_001281528.1;PSME1,upstream_gene_variant,,ENST00000470718,;PSME1,upstream_gene_variant,,ENST00000561059,;PSME1,upstream_gene_variant,,ENST00000561142,;,regulatory_region_variant,,ENSR00000066829,; C ENSG00000259371 ENST00000558325 Transcript missense_variant 583/850 584/851 195/283 N/T aAc/aCc 1 1 AL136295.3 Clone_based_ensembl_gene protein_coding YES ENSP00000453089 H0YL77 UPI0004620A05 deleterious_low_confidence(0.01) benign(0.024) 4/4 MODERATE SNV 5 PASS AAC . . 24131562 ADCY4 . GRCh38 chr14 24334591 24334591 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.62A>C p.Tyr21Ser p.Y21S ENST00000310677 2/26 110 97 9 24 23 0 ADCY4,missense_variant,p.Tyr21Ser,ENST00000310677,NM_139247.3,NM_001198568.1,NM_001198592.1;ADCY4,missense_variant,p.Tyr21Ser,ENST00000554068,;ADCY4,missense_variant,p.Tyr21Ser,ENST00000418030,;ADCY4,missense_variant,p.Tyr21Ser,ENST00000561138,;ADCY4,5_prime_UTR_variant,,ENST00000559167,;AL096870.1,intron_variant,,ENST00000555591,;RIPK3,downstream_gene_variant,,ENST00000216274,NM_006871.3;RIPK3,downstream_gene_variant,,ENST00000554569,;ADCY4,non_coding_transcript_exon_variant,,ENST00000558563,;ADCY4,non_coding_transcript_exon_variant,,ENST00000558125,;RIPK3,downstream_gene_variant,,ENST00000554338,;ADCY4,missense_variant,p.Tyr21Ser,ENST00000554781,;ADCY4,non_coding_transcript_exon_variant,,ENST00000557099,;ADCY4,intron_variant,,ENST00000557056,;ADCY4,upstream_gene_variant,,ENST00000545213,;ADCY4,upstream_gene_variant,,ENST00000554577,;ADCY4,upstream_gene_variant,,ENST00000554674,;RIPK3,downstream_gene_variant,,ENST00000554756,;RIPK3,downstream_gene_variant,,ENST00000557253,;RIPK3,downstream_gene_variant,,ENST00000557624,;RIPK3,downstream_gene_variant,,ENST00000557662,; G ENSG00000129467 ENST00000310677 Transcript missense_variant 176/3415 62/3234 21/1077 Y/S tAc/tCc 1 -1 ADCY4 HGNC HGNC:235 protein_coding YES CCDS9627.1 ENSP00000312126 Q8NFM4 UPI00000398CC NM_139247.3,NM_001198568.1,NM_001198592.1 tolerated(0.36) possibly_damaging(0.858) 2/26 hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF286,Pfam_domain:PF16214,PIRSF_domain:PIRSF039050 MODERATE SNV 2 PASS GTA . . 24334591 NYNRIN . GRCh38 chr14 24417066 24417066 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.5317T>G p.Trp1773Gly p.W1773G ENST00000382554 9/9 112 103 8 41 39 0 NYNRIN,missense_variant,p.Trp1773Gly,ENST00000382554,NM_025081.2;NYNRIN,downstream_gene_variant,,ENST00000554505,; G ENSG00000205978 ENST00000382554 Transcript missense_variant 5635/7857 5317/5697 1773/1898 W/G Tgg/Ggg 1 1 NYNRIN HGNC HGNC:20165 protein_coding YES CCDS45090.1 ENSP00000371994 Q9P2P1 UPI0000251E63 NM_025081.2 deleterious_low_confidence(0) probably_damaging(0.987) 9/9 hmmpanther:PTHR12876:SF2,hmmpanther:PTHR12876,Gene3D:3.30.420.10 MODERATE 1 SNV 5 PASS GTG . . 24417066 STRN3 . GRCh38 chr14 31026082 31026082 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.104A>C p.Asn35Thr p.N35T ENST00000357479 1/18 95 77 12 49 48 0 STRN3,missense_variant,p.Asn35Thr,ENST00000355683,NM_014574.3;STRN3,missense_variant,p.Asn35Thr,ENST00000357479,NM_001083893.1;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.2;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,missense_variant,p.Asn35Thr,ENST00000555358,;,regulatory_region_variant,,ENSR00000067178,; G ENSG00000196792 ENST00000357479 Transcript missense_variant 301/2799 104/2394 35/797 N/T aAc/aCc 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 tolerated_low_confidence(0.88) benign(0) 1/18 hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS GTT . . 31026082 STRN3 . GRCh38 chr14 31026185 31026185 + Translation_Start_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.1A>C p.Met1? p.M1? ENST00000357479 1/18 94 65 15 36 34 0 STRN3,start_lost,p.Met1?,ENST00000355683,NM_014574.3;STRN3,start_lost,p.Met1?,ENST00000357479,NM_001083893.1;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.2;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,start_lost,p.Met1?,ENST00000555358,;,regulatory_region_variant,,ENSR00000067178,; G ENSG00000196792 ENST00000357479 Transcript start_lost 198/2799 1/2394 1/797 M/L Atg/Ctg 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 deleterious_low_confidence(0) benign(0.007) 1/18 hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,mobidb-lite HIGH SNV 5 PASS ATT . . 31026185 NPAS3 . GRCh38 chr14 33800592 33800592 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.2285A>C p.Asn762Thr p.N762T ENST00000356141 12/12 93 76 14 26 25 0 NPAS3,missense_variant,p.Asn730Thr,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Asn732Thr,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Asn767Thr,ENST00000551492,;NPAS3,missense_variant,p.Asn762Thr,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Asn749Thr,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Asn736Thr,ENST00000551634,; C ENSG00000151322 ENST00000356141 Transcript missense_variant 2285/2802 2285/2802 762/933 N/T aAc/aCc 1 1 NPAS3 HGNC HGNC:19311 protein_coding YES CCDS53891.1 ENSP00000348460 Q8IXF0 X5D2Q4 UPI00000743C2 NM_001164749.1 tolerated_low_confidence(1) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF30 MODERATE 1 SNV 1 PASS AAC . . 33800592 BAZ1A . GRCh38 chr14 34874665 34874665 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.-58-3T>G ENST00000360310 70 58 8 34 31 1 BAZ1A,splice_region_variant,,ENST00000358716,NM_182648.1;BAZ1A,splice_region_variant,,ENST00000360310,NM_013448.2;BAZ1A,5_prime_UTR_variant,,ENST00000382422,;AL121603.2,non_coding_transcript_exon_variant,,ENST00000557373,;,regulatory_region_variant,,ENSR00000067609,; C ENSG00000198604 ENST00000360310 Transcript splice_region_variant,intron_variant 1 -1 BAZ1A HGNC HGNC:960 protein_coding YES CCDS9651.1 ENSP00000353458 Q9NRL2 UPI00001584D3 NM_013448.2 1/26 LOW 1 SNV 1 1 PASS TAT . . 34874665 GPR135 . GRCh38 chr14 59465066 59465066 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.161A>C p.Asn54Thr p.N54T ENST00000395116 1/1 110 89 13 40 40 0 GPR135,missense_variant,p.Asn54Thr,ENST00000395116,NM_022571.5;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,missense_variant,p.Asn54Thr,ENST00000481661,;,regulatory_region_variant,,ENSR00000069182,; G ENSG00000181619 ENST00000395116 Transcript missense_variant 277/4578 161/1485 54/494 N/T aAc/aCc 1 -1 GPR135 HGNC HGNC:19991 protein_coding YES CCDS9738.1 ENSP00000378548 Q8IZ08 UPI0000046D5B NM_022571.5 tolerated_low_confidence(0.07) benign(0.001) 1/1 hmmpanther:PTHR22752:SF3,hmmpanther:PTHR22752 MODERATE 1 SNV PASS GTT . . 59465066 SERPINA1 . GRCh38 chr14 94380925 94380925 + Missense_Mutation SNP T T A rs17580 7316-2156 BS_H9813KRS T T c.863A>T p.Glu288Val p.E288V ENST00000448921 5/7 311 208 94 37 35 0 SERPINA1,missense_variant,p.Glu288Val,ENST00000448921,NM_001127701.1,NM_001002236.2,NM_001127705.1,NM_001127703.1,NM_001127704.1;SERPINA1,missense_variant,p.Glu288Val,ENST00000437397,NM_001127707.1,NM_001127702.1,NM_001127706.1;SERPINA1,missense_variant,p.Glu288Val,ENST00000355814,NM_001002235.2,NM_001127700.1;SERPINA1,missense_variant,p.Glu288Val,ENST00000440909,;SERPINA1,missense_variant,p.Glu288Val,ENST00000393088,;SERPINA1,missense_variant,p.Glu288Val,ENST00000404814,;SERPINA1,missense_variant,p.Glu288Val,ENST00000393087,NM_000295.4;SERPINA1,missense_variant,p.Glu288Val,ENST00000449399,;SERPINA1,missense_variant,p.Glu288Val,ENST00000636712,;SERPINA1,missense_variant,p.Glu288Val,ENST00000402629,;SERPINA1,downstream_gene_variant,,ENST00000553327,;SERPINA1,downstream_gene_variant,,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000556091,;SERPINA1,downstream_gene_variant,,ENST00000556955,;SERPINA1,downstream_gene_variant,,ENST00000557118,;SERPINA1,downstream_gene_variant,,ENST00000557492,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,missense_variant,p.Glu288Val,ENST00000489769,; A ENSG00000197249 ENST00000448921 Transcript missense_variant 1436/3532 863/1257 288/418 E/V gAa/gTa rs17580,CM890097,COSM4988717 1 -1 SERPINA1 HGNC HGNC:8941 protein_coding YES CCDS9925.1 ENSP00000416066 P01009 E9KL23 UPI000000CBEC NM_001127701.1,NM_001002236.2,NM_001127705.1,NM_001127703.1,NM_001127704.1 deleterious(0) probably_damaging(0.996) 5/7 cd02056,hmmpanther:PTHR11461:SF165,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574 0.0196 0.0008 0.0576 0.0567 0.009532 0.0414 pathogenic,other 0,0,1 24895604,26174136,21067581,21625484,22426792,26304913,16608528,301355,1082356,2567291,6093867,6602622,8970361,10194472,15711957,15978931,15994391,18565211,19956452,20170533,20301692,21138453,23837941,24055113,25454901,26141072,26672964,26831755,2539391,22912729,23990791,28289587,28546746,25306238,22993338,18164971,29090095,24603877 MODERATE 1 SNV 1 1,1,1 1 PASS TTC . . 0.02299 0.007514 0.02939 0.01381 5.798e-05 0.008251 0.03632 0.03299 94380925 SERPINA1 . GRCh38 chr14 94383242 94383242 + Splice_Site SNP C C G rs111758929 7316-2156 BS_H9813KRS C C c.-4-1G>C ENST00000448921 127 106 19 23 23 0 SERPINA1,splice_acceptor_variant,,ENST00000355814,NM_001002235.2,NM_001127700.1;SERPINA1,splice_acceptor_variant,,ENST00000393087,NM_000295.4;SERPINA1,splice_acceptor_variant,,ENST00000393088,;SERPINA1,splice_acceptor_variant,,ENST00000402629,;SERPINA1,splice_acceptor_variant,,ENST00000404814,;SERPINA1,splice_acceptor_variant,,ENST00000437397,NM_001127707.1,NM_001127702.1,NM_001127706.1;SERPINA1,splice_acceptor_variant,,ENST00000440909,;SERPINA1,splice_acceptor_variant,,ENST00000448921,NM_001127701.1,NM_001002236.2,NM_001127705.1,NM_001127703.1,NM_001127704.1;SERPINA1,splice_acceptor_variant,,ENST00000449399,;SERPINA1,splice_acceptor_variant,,ENST00000553327,;SERPINA1,splice_acceptor_variant,,ENST00000556955,;SERPINA1,splice_acceptor_variant,,ENST00000557118,;SERPINA1,splice_acceptor_variant,,ENST00000557492,;SERPINA1,splice_acceptor_variant,,ENST00000636712,;SERPINA1,5_prime_UTR_variant,,ENST00000556091,;SERPINA1,intron_variant,,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,5_prime_UTR_variant,,ENST00000489769,; G ENSG00000197249 ENST00000448921 Transcript splice_acceptor_variant rs111758929 1 -1 SERPINA1 HGNC HGNC:8941 protein_coding YES CCDS9925.1 ENSP00000416066 P01009 E9KL23 UPI000000CBEC NM_001127701.1,NM_001002236.2,NM_001127705.1,NM_001127703.1,NM_001127704.1 3/6 HIGH 1 SNV 1 1 PASS CCT . . 94383242 ANKRD9 . GRCh38 chr14 102507607 102507607 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.283T>G p.Phe95Val p.F95V ENST00000286918 4/4 95 77 12 49 47 0 ANKRD9,missense_variant,p.Phe95Val,ENST00000286918,NM_152326.2;ANKRD9,missense_variant,p.Phe95Val,ENST00000559404,;ANKRD9,missense_variant,p.Phe95Val,ENST00000559651,;ANKRD9,missense_variant,p.Phe95Val,ENST00000560748,;ANKRD9,missense_variant,p.Phe95Val,ENST00000557902,; C ENSG00000156381 ENST00000286918 Transcript missense_variant 880/6727 283/954 95/317 F/V Ttc/Gtc 1 -1 ANKRD9 HGNC HGNC:20096 protein_coding YES CCDS9973.1 ENSP00000286918 Q96BM1 UPI000000CC75 NM_152326.2 deleterious(0.01) benign(0.281) 4/4 hmmpanther:PTHR24133,hmmpanther:PTHR24133:SF16,Gene3D:1.25.40.20 MODERATE 1 SNV 1 PASS AAC . . 102507607 TRAF3 . GRCh38 chr14 102886271 102886271 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.651+2T>G p.X217_splice ENST00000560371 95 82 8 33 32 0 TRAF3,splice_donor_variant,,ENST00000347662,NM_145726.2;TRAF3,splice_donor_variant,,ENST00000351691,;TRAF3,splice_donor_variant,,ENST00000392745,;TRAF3,splice_donor_variant,,ENST00000560371,NM_145725.2,NM_003300.3;TRAF3,intron_variant,,ENST00000539721,NM_001199427.1;TRAF3,intron_variant,,ENST00000559734,;TRAF3,splice_donor_variant,,ENST00000558700,; G ENSG00000131323 ENST00000560371 Transcript splice_donor_variant 1 1 TRAF3 HGNC HGNC:12033 protein_coding YES CCDS9975.1 ENSP00000454207 Q13114 UPI000000CBF9 NM_145725.2,NM_003300.3 6/10 HIGH 1 SNV 1 1 PASS GTA . . 102886271 AHNAK2 . GRCh38 chr14 104951557 104951557 + Missense_Mutation SNP C C G rs2819440 7316-2156 BS_H9813KRS C C c.3894G>C p.Met1298Ile p.M1298I ENST00000333244 7/7 52 43 6 20 20 0 AHNAK2,missense_variant,p.Met1298Ile,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 4014/18254 3894/17388 1298/5795 M/I atG/atC rs2819440,COSM3720759,COSM3677830 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.68) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348,hmmpanther:PTHR23348 0.7835 0.9909 0.6758 0.5982 0.7694 0.7853 0.9569 0.7372 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCA . . 0.7029 0.9657 0.5939 0.7218 0.5895 0.6604 0.7203 0.709 0.7313 104951557 IGHA1 . GRCh38 chr14 105707924 105707924 + Missense_Mutation SNP C C G rs1407 7316-2156 BS_H9813KRS C C c.528G>C p.Glu176Asp p.E176D ENST00000641837 2/5 233 189 39 36 35 0 IGHA1,missense_variant,p.Glu176Asp,ENST00000641837,;IGHA1,missense_variant,p.Glu176Asp,ENST00000390547,; G ENSG00000211895 ENST00000641837 Transcript missense_variant 528/1310 528/1197 176/398 E/D gaG/gaC rs1407 1 -1 IGHA1 HGNC HGNC:5478 IG_C_gene YES ENSP00000493114 A0A286YEY1 UPI000BAD5963 tolerated(0.34) benign(0.343) 2/5 0.3301 0.146 0.513 0.3304 0.2833 0.4969 0.1767 0.2669 MODERATE 1 SNV PASS GCT . . 0.3299 0.1773 0.5914 0.2112 0.3415 0.312 0.2665 0.3179 0.3868 105707924 IGHV3-7 . GRCh38 chr14 106062341 106062341 + Missense_Mutation SNP C C G rs568333982 7316-2156 BS_H9813KRS C C c.161G>C p.Ser54Thr p.S54T ENST00000390598 2/2 123 106 9 37 37 0 IGHV3-7,missense_variant,p.Ser54Thr,ENST00000390598,;,regulatory_region_variant,,ENSR00000276364,; G ENSG00000211938 ENST00000390598 Transcript missense_variant 240/430 161/351 54/117 S/T aGc/aCc rs568333982 1 -1 IGHV3-7 HGNC HGNC:5620 IG_V_gene YES ENSP00000375007 P01780 UPI0000115FF4 tolerated_low_confidence(0.32) benign(0) 2/2 0.0026 0.003 0.003 0.003 0.0031 MODERATE 1 SNV PASS GCT . . 0.0001193 0.0001972 2.981e-05 0.0002049 0.0004062 0.0001377 3.25e-05 106062341 IGHV3-7 . GRCh38 chr14 106062353 106062353 + Missense_Mutation SNP C C T rs185538237 7316-2156 BS_H9813KRS C C c.149G>A p.Ser50Asn p.S50N ENST00000390598 2/2 127 107 9 39 39 0 IGHV3-7,missense_variant,p.Ser50Asn,ENST00000390598,;,regulatory_region_variant,,ENSR00000276364,; T ENSG00000211938 ENST00000390598 Transcript missense_variant 228/430 149/351 50/117 S/N aGc/aAc rs185538237 1 -1 IGHV3-7 HGNC HGNC:5620 IG_V_gene YES ENSP00000375007 P01780 UPI0000115FF4 tolerated_low_confidence(0.32) benign(0) 2/2 0.0008 0.001 0.001 MODERATE 1 SNV PASS GCT . . 7.816e-05 0.0001193 0.0001026 5.804e-05 0.0001011 6.499e-05 106062353 IGHV3-11 . GRCh38 chr14 106116789 106116789 + Missense_Mutation SNP C C T rs782451918 7316-2156 BS_H9813KRS C C c.199G>A p.Val67Ile p.V67I ENST00000390601 2/2 64 35 12 21 21 0 IGHV3-11,missense_variant,p.Val67Ile,ENST00000390601,;,regulatory_region_variant,,ENSR00000073874,;,regulatory_region_variant,,ENSR00000276368,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; T ENSG00000211941 ENST00000390601 Transcript missense_variant 319/473 199/353 67/117 V/I Gtt/Att rs782451918 1 -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762 UPI0002C6D522 tolerated_low_confidence(0.13) benign(0.352) 2/2 MODERATE 1 SNV PASS ACC . . 3.699e-05 0.0001021 7.343e-05 106116789 IGHV3-11 . GRCh38 chr14 106116813 106116813 + Missense_Mutation SNP C C G novel 7316-2156 BS_H9813KRS C C c.175G>C p.Ala59Pro p.A59P ENST00000390601 2/2 82 60 14 25 25 0 IGHV3-11,missense_variant,p.Ala59Pro,ENST00000390601,;,regulatory_region_variant,,ENSR00000073874,;,regulatory_region_variant,,ENSR00000276368,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; G ENSG00000211941 ENST00000390601 Transcript missense_variant 295/473 175/353 59/117 A/P Gct/Cct 1 -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762 UPI0002C6D522 deleterious_low_confidence(0.02) possibly_damaging(0.603) 2/2 MODERATE 1 SNV PASS GCC . . 106116813 IGHV3-11 . GRCh38 chr14 106116836 106116836 + Missense_Mutation SNP T T C rs373385146 7316-2156 BS_H9813KRS T T c.152A>G p.Tyr51Cys p.Y51C ENST00000390601 2/2 109 75 15 30 30 0 IGHV3-11,missense_variant,p.Tyr51Cys,ENST00000390601,;,regulatory_region_variant,,ENSR00000073874,;,regulatory_region_variant,,ENSR00000276368,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; C ENSG00000211941 ENST00000390601 Transcript missense_variant 272/473 152/353 51/117 Y/C tAc/tGc rs373385146 1 -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762 UPI0002C6D522 deleterious_low_confidence(0.01) probably_damaging(0.952) 2/2 MODERATE 1 SNV PASS GTA . . 1.233e-05 1.835e-05 3.252e-05 106116836 IGHV3-11 . GRCh38 chr14 106116863 106116863 + Missense_Mutation SNP G G A rs546159056 7316-2156 BS_H9813KRS G G c.125C>T p.Ala42Val p.A42V ENST00000390601 2/2 107 89 11 32 32 0 IGHV3-11,missense_variant,p.Ala42Val,ENST00000390601,;,regulatory_region_variant,,ENSR00000073874,;,regulatory_region_variant,,ENSR00000276368,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; A ENSG00000211941 ENST00000390601 Transcript missense_variant 245/473 125/353 42/117 A/V gCa/gTa rs546159056 1 -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762 UPI0002C6D522 tolerated_low_confidence(0.21) benign(0.038) 2/2 0.0006 0.0008 0.002 MODERATE 1 SNV PASS TGC . . 2.467e-05 6.563e-05 4.591e-05 106116863 IGHV4-34 . GRCh38 chr14 106373711 106373711 + Missense_Mutation SNP C C G rs780971935 7316-2156 BS_H9813KRS C C c.321G>C p.Lys107Asn p.K107N ENST00000390616 2/2 106 91 6 29 29 0 IGHV4-34,missense_variant,p.Lys107Asn,ENST00000390616,;,regulatory_region_variant,,ENSR00000073889,;,regulatory_region_variant,,ENSR00000276389,;IGHV3-33-2,upstream_gene_variant,,ENST00000517703,;IGHV7-34-1,downstream_gene_variant,,ENST00000519200,; G ENSG00000211956 ENST00000390616 Transcript missense_variant 352/400 321/369 107/123 K/N aaG/aaC rs780971935 1 -1 IGHV4-34 HGNC HGNC:5650 IG_V_gene YES ENSP00000375025 P06331 UPI000173A6AA tolerated(0.06) benign(0.048) 2/2 MODERATE 1 SNV 1 PASS GCT . . 4.108e-06 9.18e-06 106373711 IGHV4-39 . GRCh38 chr14 106421758 106421758 + Missense_Mutation SNP G G T novel 7316-2156 BS_H9813KRS G G c.328C>A p.Leu110Met p.L110M ENST00000390619 2/2 142 82 38 23 23 0 IGHV4-39,missense_variant,p.Leu110Met,ENST00000390619,;,regulatory_region_variant,,ENSR00000276393,;IGHV7-40,downstream_gene_variant,,ENST00000520963,;IGHVIII-38-1,upstream_gene_variant,,ENST00000521454,; T ENSG00000211959 ENST00000390619 Transcript missense_variant 378/425 328/375 110/125 L/M Ctg/Atg 1 -1 IGHV4-39 HGNC HGNC:5651 IG_V_gene YES ENSP00000375028 P01824 UPI000173A6AB deleterious(0.04) possibly_damaging(0.587) 2/2 MODERATE 1 SNV PASS AGC . . 106421758 IGHV4-39 . GRCh38 chr14 106421830 106421830 + Missense_Mutation SNP A A G rs752269904 7316-2156 BS_H9813KRS A A c.256T>C p.Tyr86His p.Y86H ENST00000390619 2/2 153 95 35 21 21 0 IGHV4-39,missense_variant,p.Tyr86His,ENST00000390619,;,regulatory_region_variant,,ENSR00000276393,;IGHV7-40,downstream_gene_variant,,ENST00000520963,;IGHVIII-38-1,upstream_gene_variant,,ENST00000521454,; G ENSG00000211959 ENST00000390619 Transcript missense_variant 306/425 256/375 86/125 Y/H Tac/Cac rs752269904 1 -1 IGHV4-39 HGNC HGNC:5651 IG_V_gene YES ENSP00000375028 P01824 UPI000173A6AB tolerated(0.38) benign(0.012) 2/2 MODERATE 1 SNV PASS TAG . . 106421830 IGHV3-43 . GRCh38 chr14 106470404 106470404 + Missense_Mutation SNP A A C rs61999676 7316-2156 BS_H9813KRS A A c.214T>G p.Trp72Gly p.W72G ENST00000434710 2/2 133 103 23 42 38 0 IGHV3-43,missense_variant,p.Trp72Gly,ENST00000434710,;IGHVII-43-1,downstream_gene_variant,,ENST00000636814,; C ENSG00000232216 ENST00000434710 Transcript missense_variant 294/434 214/354 72/118 W/G Tgg/Ggg rs61999676 1 -1 IGHV3-43 HGNC HGNC:5604 IG_V_gene YES ENSP00000399826 A0A0B4J1X8 UPI000011AACC tolerated_low_confidence(0.56) benign(0) 2/2 0.1256 0.0303 0.1225 0.3304 0.0398 0.1339 0.02254 0.06165 MODERATE 1 SNV PASS CAA . . 0.09992 0.02864 0.1176 0.07041 0.3792 0.05785 0.06005 0.07921 0.1448 106470404 IGHV1-46 . GRCh38 chr14 106511191 106511191 + Missense_Mutation SNP T T C novel 7316-2156 BS_H9813KRS T T c.277A>G p.Thr93Ala p.T93A ENST00000390622 2/2 129 100 14 34 33 0 IGHV1-46,missense_variant,p.Thr93Ala,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000619530,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,; C ENSG00000211962 ENST00000390622 Transcript missense_variant 581/655 277/351 93/117 T/A Acg/Gcg 1 -1 IGHV1-46 HGNC HGNC:5554 IG_V_gene YES ENSP00000375031 P01743 UPI0000113ACE tolerated(0.07) benign(0.052) 2/2 MODERATE 1 SNV PASS GTG . . 106511191 IGHV1-46 . GRCh38 chr14 106511309 106511309 + Missense_Mutation SNP C C T rs144704015 7316-2156 BS_H9813KRS C C c.159G>A p.Met53Ile p.M53I ENST00000390622 2/2 131 97 12 33 32 0 IGHV1-46,missense_variant,p.Met53Ile,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000619530,;,regulatory_region_variant,,ENSR00000073893,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,; T ENSG00000211962 ENST00000390622 Transcript missense_variant 463/655 159/351 53/117 M/I atG/atA rs144704015 1 -1 IGHV1-46 HGNC HGNC:5554 IG_V_gene YES ENSP00000375031 P01743 UPI0000113ACE tolerated(0.44) benign(0.001) 2/2 0.0008 0.0023 0.001 0.0001211 MODERATE 1 SNV PASS GCA . . 4.104e-05 6.547e-05 2.978e-05 0.0001017 6.412e-05 106511309 IGHV1-46 . GRCh38 chr14 106511317 106511317 + Missense_Mutation SNP A A T rs182132309 7316-2156 BS_H9813KRS A A c.151T>A p.Tyr51Asn p.Y51N ENST00000390622 2/2 129 93 13 34 33 0 IGHV1-46,missense_variant,p.Tyr51Asn,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000619530,;,regulatory_region_variant,,ENSR00000073893,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,; T ENSG00000211962 ENST00000390622 Transcript missense_variant 455/655 151/351 51/117 Y/N Tac/Aac rs182132309 1 -1 IGHV1-46 HGNC HGNC:5554 IG_V_gene YES ENSP00000375031 P01743 UPI0000113ACE tolerated(0.08) benign(0.045) 2/2 0.0002 0.001 MODERATE 1 SNV PASS TAG . . 4.104e-06 5.798e-05 106511317 IGHV1-46 . GRCh38 chr14 106511374 106511374 + Missense_Mutation SNP T T C rs188566927 7316-2156 BS_H9813KRS T T c.94A>G p.Lys32Glu p.K32E ENST00000390622 2/2 133 121 9 41 40 0 IGHV1-46,missense_variant,p.Lys32Glu,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000619530,;,regulatory_region_variant,,ENSR00000073893,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,; C ENSG00000211962 ENST00000390622 Transcript missense_variant 398/655 94/351 32/117 K/E Aag/Gag rs188566927 1 -1 IGHV1-46 HGNC HGNC:5554 IG_V_gene YES ENSP00000375031 P01743 UPI0000113ACE deleterious(0) possibly_damaging(0.608) 2/2 MODERATE 1 SNV PASS TTC . . 4.104e-06 9.16e-06 106511374 IGHV3-49 . GRCh38 chr14 106557168 106557168 + Missense_Mutation SNP C C T rs369856985 7316-2156 BS_H9813KRS C C c.127G>A p.Ala43Thr p.A43T ENST00000390625 2/2 146 129 10 35 33 0 IGHV3-49,missense_variant,p.Ala43Thr,ENST00000390625,;,regulatory_region_variant,,ENSR00000276406,; T ENSG00000211965 ENST00000390625 Transcript missense_variant 207/439 127/359 43/119 A/T Gct/Act rs369856985 1 -1 IGHV3-49 HGNC HGNC:5607 IG_V_gene YES ENSP00000375034 A0A0A0MS15 UPI00034F23BF tolerated_low_confidence(0.09) possibly_damaging(0.793) 2/2 0.0001217 MODERATE 1 SNV PASS GCT . . 3.284e-05 6.547e-05 0.0001018 5.8e-05 4.581e-05 106557168 IGHV5-51 . GRCh38 chr14 106578867 106578867 + Missense_Mutation SNP A A T rs377378008 7316-2156 BS_H9813KRS A A c.228T>A p.Asp76Glu p.D76E ENST00000390626 2/2 136 102 25 35 33 0 IGHV5-51,missense_variant,p.Asp76Glu,ENST00000390626,;IGHVIII-51-1,downstream_gene_variant,,ENST00000519403,; T ENSG00000211966 ENST00000390626 Transcript missense_variant 287/410 228/351 76/117 D/E gaT/gaA rs377378008 1 -1 IGHV5-51 HGNC HGNC:5659 IG_V_gene YES ENSP00000375035 A0A0C4DH38 UPI000011AAC8 tolerated(0.52) benign(0.001) 2/2 0.0001184 MODERATE 1 SNV PASS TAT . . 8.209e-06 1.832e-05 106578867 IGHV5-51 . GRCh38 chr14 106578889 106578889 + Missense_Mutation SNP A A G rs200764115 7316-2156 BS_H9813KRS A A c.206T>C p.Ile69Thr p.I69T ENST00000390626 2/2 118 98 10 36 34 0 IGHV5-51,missense_variant,p.Ile69Thr,ENST00000390626,;IGHVIII-51-1,downstream_gene_variant,,ENST00000519403,; G ENSG00000211966 ENST00000390626 Transcript missense_variant 265/410 206/351 69/117 I/T aTc/aCc rs200764115 1 -1 IGHV5-51 HGNC HGNC:5659 IG_V_gene YES ENSP00000375035 A0A0C4DH38 UPI000011AAC8 tolerated(0.4) benign(0) 2/2 MODERATE 1 SNV PASS GAT . . 1.833e-05 4.229e-05 106578889 IGHV5-51 . GRCh38 chr14 106578890 106578890 + Missense_Mutation SNP T T A rs547927935 7316-2156 BS_H9813KRS T T c.205A>T p.Ile69Phe p.I69F ENST00000390626 2/2 120 99 10 36 34 0 IGHV5-51,missense_variant,p.Ile69Phe,ENST00000390626,;IGHVIII-51-1,downstream_gene_variant,,ENST00000519403,; A ENSG00000211966 ENST00000390626 Transcript missense_variant 264/410 205/351 69/117 I/F Atc/Ttc rs547927935 1 -1 IGHV5-51 HGNC HGNC:5659 IG_V_gene YES ENSP00000375035 A0A0C4DH38 UPI000011AAC8 tolerated(0.69) benign(0) 2/2 MODERATE 1 SNV PASS ATC . . 106578890 GJD2 . GRCh38 chr15 34753325 34753325 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.119T>G p.Ile40Ser p.I40S ENST00000290374 2/2 95 78 12 42 40 1 GJD2,missense_variant,p.Ile40Ser,ENST00000290374,NM_020660.2;AC087457.1,upstream_gene_variant,,ENST00000503496,;AC087457.1,upstream_gene_variant,,ENST00000558707,;,regulatory_region_variant,,ENSR00000074831,; C ENSG00000159248 ENST00000290374 Transcript missense_variant 596/2889 119/966 40/321 I/S aTt/aGt 1 -1 GJD2 HGNC HGNC:19154 protein_coding YES CCDS10040.1 ENSP00000290374 Q9UKL4 UPI00001287E3 NM_020660.2 deleterious(0) possibly_damaging(0.542) 2/2 Transmembrane_helices:TMhelix,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF32,Pfam_domain:PF00029,Gene3D:1.20.1440.80,Prints_domain:PR00206 MODERATE 1 SNV 1 PASS AAT . . 34753325 B2M . GRCh38 chr15 44715422 44715423 + Frame_Shift_Ins INS - - C rs878943546 7316-2156 BS_H9813KRS - - c.68-1_68insC p.Arg23ProfsTer34 p.R23Pfs*34 ENST00000558401 180 97 27 51 50 0 B2M,frameshift_variant,p.Arg23ProfsTer34,ENST00000558401,NM_004048.2;B2M,frameshift_variant,p.Arg23ProfsTer34,ENST00000559916,;B2M,frameshift_variant,p.Arg23ProfsTer16,ENST00000544417,;B2M,splice_region_variant,,ENST00000559907,;B2M,intron_variant,,ENST00000559220,;PATL2,upstream_gene_variant,,ENST00000558573,;B2M,upstream_gene_variant,,ENST00000560556,;B2M,frameshift_variant,p.Arg23ProfsTer34,ENST00000561424,;B2M,splice_region_variant,,ENST00000559720,;B2M,splice_region_variant,,ENST00000560681,;B2M,intron_variant,,ENST00000349264,;B2M,intron_variant,,ENST00000557901,;B2M,upstream_gene_variant,,ENST00000561139,;B2M,upstream_gene_variant,,ENST00000623550,;B2M,downstream_gene_variant,,ENST00000632133,; C ENSG00000166710 ENST00000558401 Transcript frameshift_variant,splice_region_variant 137-138/1715 67-68/360 23/119 R/PX cgt/cCgt rs878943546 1 1 B2M HGNC HGNC:914 protein_coding YES CCDS10113.1 ENSP00000452780 P61769 UPI000000D892 NM_004048.2 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HIGH 1 insertion 1 1 PASS AGG . . 44715422 B2M . GRCh38 chr15 44715702 44715702 + Splice_Site SNP G G A rs111352556 7316-2156 BS_H9813KRS G G c.346+1G>A p.X116_splice ENST00000558401 142 123 9 39 39 0 B2M,splice_donor_variant,,ENST00000544417,;B2M,splice_donor_variant,,ENST00000558401,NM_004048.2;B2M,splice_donor_variant,,ENST00000559916,;B2M,splice_donor_variant,,ENST00000559907,;B2M,intron_variant,,ENST00000559220,;PATL2,upstream_gene_variant,,ENST00000558573,;B2M,upstream_gene_variant,,ENST00000560556,;B2M,splice_donor_variant,,ENST00000349264,;B2M,splice_donor_variant,,ENST00000557901,;B2M,splice_donor_variant,,ENST00000560681,;B2M,splice_donor_variant,,ENST00000561139,;B2M,splice_donor_variant,,ENST00000561424,;B2M,non_coding_transcript_exon_variant,,ENST00000559720,;B2M,upstream_gene_variant,,ENST00000623550,;B2M,downstream_gene_variant,,ENST00000632133,; A ENSG00000166710 ENST00000558401 Transcript splice_donor_variant rs111352556,COSM6926563,COSM6926562,COSM5006760,COSM5006759 1 1 B2M HGNC HGNC:914 protein_coding YES CCDS10113.1 ENSP00000452780 P61769 UPI000000D892 NM_004048.2 2/3 0,1,1,1,1 HIGH 1 SNV 1 0,1,1,1,1 1 PASS GGT . . 44715702 FBN1 . GRCh38 chr15 48463081 48463081 + Splice_Site SNP C C T novel 7316-2156 BS_H9813KRS C C c.5224+1G>A p.X1742_splice ENST00000316623 121 99 16 41 41 0 FBN1,splice_donor_variant,,ENST00000316623,NM_000138.4;FBN1,splice_donor_variant,,ENST00000537463,;FBN1,splice_donor_variant,,ENST00000559133,; T ENSG00000166147 ENST00000316623 Transcript splice_donor_variant 1 -1 FBN1 HGNC HGNC:3603 protein_coding YES CCDS32232.1 ENSP00000325527 P35555 UPI0000EE4EBC NM_000138.4 42/65 HIGH 1 SNV 1 1 PASS ACC . . 48463081 LYSMD2 . GRCh38 chr15 51737414 51737414 + Missense_Mutation SNP T T G rs1185627513 7316-2156 BS_H9813KRS T T c.209A>C p.His70Pro p.H70P ENST00000267838 1/3 78 66 8 33 33 0 LYSMD2,missense_variant,p.His70Pro,ENST00000267838,NM_153374.2;LYSMD2,intron_variant,,ENST00000454181,NM_001143917.1;LYSMD2,intron_variant,,ENST00000558126,;LYSMD2,intron_variant,,ENST00000560491,;,regulatory_region_variant,,ENSR00000076616,; G ENSG00000140280 ENST00000267838 Transcript missense_variant 724/1759 209/648 70/215 H/P cAt/cCt rs1185627513 1 -1 LYSMD2 HGNC HGNC:28571 protein_coding YES CCDS10143.1 ENSP00000267838 Q8IV50 UPI000007469F NM_153374.2 tolerated(0.12) benign(0.129) 1/3 hmmpanther:PTHR20932,hmmpanther:PTHR20932:SF4,Gene3D:3.10.350.10 MODERATE 1 SNV 1 PASS ATG . . 1.528e-05 6.791e-05 51737414 C2CD4B . GRCh38 chr15 62164368 62164368 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.617A>C p.Asn206Thr p.N206T ENST00000380392 2/2 103 74 11 45 43 0 C2CD4B,missense_variant,p.Asn206Thr,ENST00000380392,NM_001007595.2;,regulatory_region_variant,,ENSR00000077574,; G ENSG00000205502 ENST00000380392 Transcript missense_variant 746/1579 617/1095 206/364 N/T aAc/aCc 1 -1 C2CD4B HGNC HGNC:33628 protein_coding YES CCDS32259.1 ENSP00000369755 A6NLJ0 UPI0000161A38 NM_001007595.2 tolerated(0.16) benign(0.047) 2/2 hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF343,mobidb-lite MODERATE 1 SNV 2 PASS GTT . . 62164368 RBPMS2 . GRCh38 chr15 64775318 64775318 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.2T>G p.Met1? p.M1? ENST00000300069 1/8 82 66 10 25 25 0 RBPMS2,start_lost,p.Met1?,ENST00000300069,NM_194272.1;,regulatory_region_variant,,ENSR00000077989,; C ENSG00000166831 ENST00000300069 Transcript start_lost 270/2008 2/630 1/209 M/R aTg/aGg 1 -1 RBPMS2 HGNC HGNC:19098 protein_coding YES CCDS32271.1 ENSP00000300069 Q6ZRY4 UPI00001AECD1 NM_194272.1 deleterious_low_confidence(0) benign(0.227) 1/8 hmmpanther:PTHR45539,hmmpanther:PTHR45539:SF2,mobidb-lite HIGH 1 SNV 1 PASS CAT . . 64775318 RPL4 . GRCh38 chr15 66499491 66499492 + Frame_Shift_Ins INS - - T rs769086340 7316-2156 BS_H9813KRS - - c.1199dup p.Ala401GlyfsTer10 p.A401Gfs*10 ENST00000307961 10/10 163 120 18 30 30 0 RPL4,frameshift_variant,p.Ala401GlyfsTer10,ENST00000307961,NM_000968.3;RPL4,frameshift_variant,p.Ala307GlyfsTer10,ENST00000568588,;SNAPC5,upstream_gene_variant,,ENST00000307979,;SNAPC5,upstream_gene_variant,,ENST00000316634,;SNAPC5,upstream_gene_variant,,ENST00000395589,NM_006049.2;SNAPC5,upstream_gene_variant,,ENST00000563480,;SNAPC5,upstream_gene_variant,,ENST00000566658,;RPL4,downstream_gene_variant,,ENST00000569438,;RPL4,downstream_gene_variant,,ENST00000569696,;SNORD18C,downstream_gene_variant,,ENST00000362704,;SNORD16,downstream_gene_variant,,ENST00000362803,;SNORD18A,downstream_gene_variant,,ENST00000363753,;SNORD18B,downstream_gene_variant,,ENST00000365659,;MIR4512,upstream_gene_variant,,ENST00000583257,;RF01159,downstream_gene_variant,,ENST00000629629,;RPL4,non_coding_transcript_exon_variant,,ENST00000565723,;RPL4,downstream_gene_variant,,ENST00000563473,;RPL4,non_coding_transcript_exon_variant,,ENST00000567229,;RPL4,non_coding_transcript_exon_variant,,ENST00000561775,;RPL4,downstream_gene_variant,,ENST00000561554,;SNAPC5,upstream_gene_variant,,ENST00000562411,;RPL4,downstream_gene_variant,,ENST00000564439,;RPL4,downstream_gene_variant,,ENST00000564647,;RPL4,downstream_gene_variant,,ENST00000564744,;SNAPC5,upstream_gene_variant,,ENST00000565465,;RPL4,downstream_gene_variant,,ENST00000566039,;RPL4,downstream_gene_variant,,ENST00000566491,;RPL4,downstream_gene_variant,,ENST00000566622,;RPL4,downstream_gene_variant,,ENST00000566624,;SNAPC5,upstream_gene_variant,,ENST00000568875,; T ENSG00000174444 ENST00000307961 Transcript frameshift_variant 1292-1293/2769 1199-1200/1284 400/427 K/KX aag/aaAg rs769086340 1 -1 RPL4 HGNC HGNC:10353 protein_coding YES CCDS10218.1 ENSP00000311430 P36578 UPI00001340F1 NM_000968.3 10/10 PDB-ENSP_mappings:4ug0.LC,PDB-ENSP_mappings:4v6x.CC,PDB-ENSP_mappings:5a8l.H,PDB-ENSP_mappings:5aj0.AC,PDB-ENSP_mappings:5lks.LC,PDB-ENSP_mappings:5t2c.F,mobidb-lite,Low_complexity_(Seg):seg HIGH 1 insertion 1 PASS CCT . . 3.265e-05 0.0002087 0.0001834 66499491 NPTN . GRCh38 chr15 73633127 73633127 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.89A>C p.Asn30Thr p.N30T ENST00000345330 1/9 116 92 12 49 47 1 NPTN,missense_variant,p.Asn30Thr,ENST00000351217,NM_017455.3;NPTN,missense_variant,p.Asn30Thr,ENST00000345330,NM_012428.3;NPTN,missense_variant,p.Asn30Thr,ENST00000563691,NM_001161363.1;NPTN,missense_variant,p.Asn30Thr,ENST00000562924,NM_001161364.1;NPTN,missense_variant,p.Asn30Thr,ENST00000565325,;NPTN,upstream_gene_variant,,ENST00000565282,;NPTN,upstream_gene_variant,,ENST00000567198,;NPTN,splice_region_variant,,ENST00000564551,;NPTN,splice_region_variant,,ENST00000563753,;,regulatory_region_variant,,ENSR00000079121,; G ENSG00000156642 ENST00000345330 Transcript missense_variant,splice_region_variant 287/2444 89/1197 30/398 N/T aAc/aCc 1 -1 NPTN HGNC HGNC:17867 protein_coding YES CCDS10249.1 ENSP00000290401 Q9Y639 UPI0000072D5C NM_012428.3 tolerated(1) benign(0.025) 1/9 PROSITE_profiles:PS50835,hmmpanther:PTHR10075:SF5,hmmpanther:PTHR10075,PIRSF_domain:PIRSF000615,Gene3D:2.60.40.10 MODERATE 1 SNV 1 PASS GTT . . 73633127 CD276 . GRCh38 chr15 73703725 73703725 + Missense_Mutation SNP G G A rs11574483 7316-2156 BS_H9813KRS G G c.800G>A p.Arg267His p.R267H ENST00000318443 5/10 100 87 7 33 33 0 CD276,missense_variant,p.Arg267His,ENST00000318443,NM_001024736.1;CD276,missense_variant,p.Arg267His,ENST00000561213,;CD276,missense_variant,p.Arg121His,ENST00000537340,;CD276,intron_variant,,ENST00000318424,NM_025240.2,NM_001329628.1;CD276,intron_variant,,ENST00000564751,;CD276,downstream_gene_variant,,ENST00000558689,;CD276,downstream_gene_variant,,ENST00000560786,;CD276,downstream_gene_variant,,ENST00000560995,;CD276,upstream_gene_variant,,ENST00000561176,;CD276,downstream_gene_variant,,ENST00000561260,;CD276,downstream_gene_variant,,ENST00000561416,;CD276,downstream_gene_variant,,ENST00000563584,;CD276,downstream_gene_variant,,ENST00000567189,;CD276,3_prime_UTR_variant,,ENST00000560928,;CD276,upstream_gene_variant,,ENST00000557951,;CD276,upstream_gene_variant,,ENST00000559073,;CD276,downstream_gene_variant,,ENST00000567582,; A ENSG00000103855 ENST00000318443 Transcript missense_variant 1102/3469 800/1605 267/534 R/H cGc/cAc rs11574483,COSM434258 1 1 CD276 HGNC HGNC:19137 protein_coding YES CCDS32288.1 ENSP00000320084 Q5ZPR3 UPI0000034C25 NM_001024736.1 tolerated(0.27) benign(0.006) 5/10 Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF2,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 0.1210 0.1467 0.0793 0.127 0.0944 0.137 0.1463 0.09623 0,1 27331016 MODERATE 1 SNV 2 0,1 PASS CGC . . 0.1086 0.1517 0.09663 0.1211 0.1119 0.1304 0.09575 0.1062 0.1257 73703725 CD276 . GRCh38 chr15 73703760 73703760 + Missense_Mutation SNP G G A rs10083681 7316-2156 BS_H9813KRS G G c.835G>A p.Ala279Thr p.A279T ENST00000318443 5/10 121 105 7 32 32 0 CD276,missense_variant,p.Ala279Thr,ENST00000318443,NM_001024736.1;CD276,missense_variant,p.Ala279Thr,ENST00000561213,;CD276,missense_variant,p.Ala133Thr,ENST00000537340,;CD276,intron_variant,,ENST00000318424,NM_025240.2,NM_001329628.1;CD276,intron_variant,,ENST00000564751,;CD276,downstream_gene_variant,,ENST00000558689,;CD276,downstream_gene_variant,,ENST00000560786,;CD276,downstream_gene_variant,,ENST00000560995,;CD276,upstream_gene_variant,,ENST00000561176,;CD276,downstream_gene_variant,,ENST00000561260,;CD276,downstream_gene_variant,,ENST00000561416,;CD276,downstream_gene_variant,,ENST00000563584,;CD276,downstream_gene_variant,,ENST00000567189,;CD276,3_prime_UTR_variant,,ENST00000560928,;CD276,upstream_gene_variant,,ENST00000557951,;CD276,upstream_gene_variant,,ENST00000559073,;CD276,downstream_gene_variant,,ENST00000567582,; A ENSG00000103855 ENST00000318443 Transcript missense_variant 1137/3469 835/1605 279/534 A/T Gca/Aca rs10083681 1 1 CD276 HGNC HGNC:19137 protein_coding YES CCDS32288.1 ENSP00000320084 Q5ZPR3 UPI0000034C25 NM_001024736.1 tolerated(0.37) benign(0.005) 5/10 Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF2,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 0.1979 0.4281 0.0965 0.127 0.0964 0.136 0.3867 0.09774 MODERATE 1 SNV 2 PASS GGC . . 0.1265 0.3985 0.1093 0.1243 0.1117 0.1306 0.09672 0.1172 0.1262 73703760 ACAN . GRCh38 chr15 88836197 88836197 + Splice_Region SNP C C A novel 7316-2156 BS_H9813KRS C C c.-7-3C>A ENST00000439576 107 99 6 39 38 0 ACAN,splice_region_variant,,ENST00000352105,NM_001135.3;ACAN,splice_region_variant,,ENST00000439576,NM_013227.3;ACAN,splice_region_variant,,ENST00000558207,;ACAN,splice_region_variant,,ENST00000559004,;ACAN,splice_region_variant,,ENST00000560601,;ACAN,splice_region_variant,,ENST00000617301,;ACAN,upstream_gene_variant,,ENST00000561243,; A ENSG00000157766 ENST00000439576 Transcript splice_region_variant,intron_variant 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 1/17 LOW 1 SNV 5 1 PASS CCA . . 88836197 MESP1 . GRCh38 chr15 89751026 89751026 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.206T>G p.Val69Gly p.V69G ENST00000300057 1/2 115 99 11 38 38 0 MESP1,missense_variant,p.Val69Gly,ENST00000300057,NM_018670.3;MESP1,splice_region_variant,,ENST00000559894,;,regulatory_region_variant,,ENSR00000080949,;MRPL15P1,upstream_gene_variant,,ENST00000559543,; C ENSG00000166823 ENST00000300057 Transcript missense_variant 285/2369 206/807 69/268 V/G gTa/gGa 1 -1 MESP1 HGNC HGNC:29658 protein_coding YES CCDS10355.1 ENSP00000300057 Q9BRJ9 UPI0000070E08 NM_018670.3 tolerated(0.16) benign(0) 1/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR20937,hmmpanther:PTHR20937:SF6,Gene3D:4.10.280.10 MODERATE 1 SNV 1 PASS TAC . . 89751026 HDDC3 . GRCh38 chr15 90932437 90932437 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.104A>C p.His35Pro p.H35P ENST00000394272 1/4 84 70 9 29 29 0 HDDC3,missense_variant,p.His35Pro,ENST00000394272,NM_001286451.1;HDDC3,missense_variant,p.His35Pro,ENST00000646620,;HDDC3,missense_variant,p.His35Pro,ENST00000330334,NM_198527.3;HDDC3,missense_variant,p.His35Pro,ENST00000559898,;HDDC3,missense_variant,p.Thr14Pro,ENST00000561036,;UNC45A,intron_variant,,ENST00000394275,NM_001323621.1,NM_001039675.1;UNC45A,upstream_gene_variant,,ENST00000418476,NM_018671.4,NM_001323620.1,NM_001323619.1;UNC45A,upstream_gene_variant,,ENST00000639885,;HDDC3,intron_variant,,ENST00000448987,;UNC45A,intron_variant,,ENST00000461266,;UNC45A,intron_variant,,ENST00000480470,;HDDC3,downstream_gene_variant,,ENST00000438890,;UNC45A,upstream_gene_variant,,ENST00000553671,;UNC45A,downstream_gene_variant,,ENST00000556319,;UNC45A,upstream_gene_variant,,ENST00000556482,;HDDC3,non_coding_transcript_exon_variant,,ENST00000643068,;HDDC3,non_coding_transcript_exon_variant,,ENST00000494993,;HDDC3,non_coding_transcript_exon_variant,,ENST00000559834,;UNC45A,upstream_gene_variant,,ENST00000486253,;UNC45A,upstream_gene_variant,,ENST00000495068,;UNC45A,upstream_gene_variant,,ENST00000497152,;UNC45A,upstream_gene_variant,,ENST00000557212,;,regulatory_region_variant,,ENSR00000278966,; G ENSG00000184508 ENST00000394272 Transcript missense_variant 133/1880 104/540 35/179 H/P cAc/cCc 1 -1 HDDC3 HGNC HGNC:30522 protein_coding YES CCDS66866.1 ENSP00000377814 Q8N4P3 UPI0000161A91 NM_001286451.1 deleterious(0) probably_damaging(1) 1/4 Gene3D:1.10.3210.10,Pfam_domain:PF13328,PROSITE_profiles:PS51831,hmmpanther:PTHR21262,hmmpanther:PTHR21262:SF27,SMART_domains:SM00471,Superfamily_domains:SSF109604,cd00077 MODERATE SNV 2 PASS GTG . . 90932437 AC107976.1 . GRCh38 chr15 94855769 94855770 + Splice_Region INS - - GACA rs878919417 7316-2156 BS_H9813KRS - - n.294-3_294-2insTGTC ENST00000602330 130 95 20 30 30 0 AC107976.1,splice_region_variant,,ENST00000602330,;AC087633.2,intron_variant,,ENST00000618611,;AC087633.2,upstream_gene_variant,,ENST00000614581,;AC087633.2,upstream_gene_variant,,ENST00000615751,;AC087633.2,upstream_gene_variant,,ENST00000618377,;AC087633.2,upstream_gene_variant,,ENST00000621842,;,regulatory_region_variant,,ENSR00000081466,;AC087633.2,non_coding_transcript_exon_variant,,ENST00000565166,; GACA ENSG00000270017 ENST00000602330 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs878919417 1 -1 AC107976.1 Clone_based_ensembl_gene lincRNA YES 1/1 LOW 1 insertion 5 PASS CTA . . 94855769 RAB40C . GRCh38 chr16 627591 627591 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.815A>C p.Asn272Thr p.N272T ENST00000535977 7/7 142 122 12 30 30 0 RAB40C,missense_variant,p.Asn272Thr,ENST00000535977,NM_001172663.1;RAB40C,missense_variant,p.Asn272Thr,ENST00000248139,NM_021168.4;RAB40C,missense_variant,p.Asn272Thr,ENST00000539661,NM_001172664.1;RAB40C,missense_variant,p.Asn272Thr,ENST00000538492,NM_001172665.1,NM_001172666.1;WFIKKN1,upstream_gene_variant,,ENST00000319070,NM_053284.2;RAB40C,downstream_gene_variant,,ENST00000563109,;RAB40C,downstream_gene_variant,,ENST00000564703,;RAB40C,downstream_gene_variant,,ENST00000566290,;RAB40C,downstream_gene_variant,,ENST00000568586,;RAB40C,downstream_gene_variant,,ENST00000569575,;RAB40C,non_coding_transcript_exon_variant,,ENST00000561781,;RAB40C,downstream_gene_variant,,ENST00000509637,;RAB40C,downstream_gene_variant,,ENST00000565511,;WFIKKN1,upstream_gene_variant,,ENST00000573440,;,regulatory_region_variant,,ENSR00000082216,; C ENSG00000197562 ENST00000535977 Transcript missense_variant 1037/2717 815/846 272/281 N/T aAc/aCc 1 1 RAB40C HGNC HGNC:18285 protein_coding YES CCDS10413.1 ENSP00000438492 Q96S21 UPI0000133002 NM_001172663.1 tolerated_low_confidence(0.05) benign(0.063) 7/7 mobidb-lite,PROSITE_profiles:PS51419,cd04121,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF365 MODERATE SNV 5 PASS AAC . . 627591 RPS2 . GRCh38 chr16 1964629 1964629 + Splice_Site SNP C C G novel 7316-2156 BS_H9813KRS C C c.-3-1G>C ENST00000343262 137 107 26 35 35 0 RPS2,splice_acceptor_variant,,ENST00000343262,NM_002952.3;RPS2,splice_acceptor_variant,,ENST00000527302,;RPS2,5_prime_UTR_variant,,ENST00000529806,;RPS2,5_prime_UTR_variant,,ENST00000526522,;RPS2,5_prime_UTR_variant,,ENST00000530225,;RPS2,intron_variant,,ENST00000563194,;NDUFB10,downstream_gene_variant,,ENST00000268668,NM_004548.2;RNF151,upstream_gene_variant,,ENST00000321392,;RPS2,upstream_gene_variant,,ENST00000526586,;RPS2,upstream_gene_variant,,ENST00000533186,;NDUFB10,downstream_gene_variant,,ENST00000543683,;NDUFB10,downstream_gene_variant,,ENST00000569148,;RNF151,upstream_gene_variant,,ENST00000569210,NM_001348711.1;RNF151,upstream_gene_variant,,ENST00000569714,NM_174903.4;NDUFB10,downstream_gene_variant,,ENST00000570172,;SNORA10,upstream_gene_variant,,ENST00000384084,;SNORA64,upstream_gene_variant,,ENST00000384674,;SNORA78,upstream_gene_variant,,ENST00000459373,;SNHG9,upstream_gene_variant,,ENST00000531523,;SNHG9,upstream_gene_variant,,ENST00000564014,;RPS2,non_coding_transcript_exon_variant,,ENST00000531065,;RPS2,non_coding_transcript_exon_variant,,ENST00000527871,;RPS2,non_coding_transcript_exon_variant,,ENST00000533161,;RPS2,non_coding_transcript_exon_variant,,ENST00000527109,;RPS2,non_coding_transcript_exon_variant,,ENST00000527826,;RPS2,upstream_gene_variant,,ENST00000526908,;RPS2,upstream_gene_variant,,ENST00000532746,;RPS2,upstream_gene_variant,,ENST00000533872,;RPS2,upstream_gene_variant,,ENST00000534461,;NDUFB10,downstream_gene_variant,,ENST00000565031,;,regulatory_region_variant,,ENSR00000082416,;AC005363.1,upstream_gene_variant,,ENST00000530779,; G ENSG00000140988 ENST00000343262 Transcript splice_acceptor_variant 1 -1 RPS2 HGNC HGNC:10404 protein_coding YES CCDS10452.1 ENSP00000341885 P15880 UPI000000128D NM_002952.3 1/6 HIGH 1 SNV 1 PASS GCT . . 1964629 ZNF598 . GRCh38 chr16 1999639 1999639 + Missense_Mutation SNP A A G rs2286469 7316-2156 BS_H9813KRS A A c.1745T>C p.Met582Thr p.M582T ENST00000563630 9/12 119 107 9 45 42 2 ZNF598,missense_variant,p.Met582Thr,ENST00000563630,NM_178167.3;ZNF598,missense_variant,p.Met582Thr,ENST00000562103,;AC005606.1,downstream_gene_variant,,ENST00000567515,;ZNF598,missense_variant,p.Met145Thr,ENST00000564556,;ZNF598,non_coding_transcript_exon_variant,,ENST00000565396,;ZNF598,non_coding_transcript_exon_variant,,ENST00000562988,;ZNF598,non_coding_transcript_exon_variant,,ENST00000564824,;ZNF598,downstream_gene_variant,,ENST00000561787,;ZNF598,upstream_gene_variant,,ENST00000567008,;ZNF598,downstream_gene_variant,,ENST00000567625,; G ENSG00000167962 ENST00000563630 Transcript missense_variant 1988/3371 1745/2550 582/849 M/T aTg/aCg rs2286469,COSM434801 1 -1 ZNF598 HGNC HGNC:28079 protein_coding YES ENSP00000455882 H3BQQ2 UPI0000197460 NM_178167.3 tolerated(0.84) benign(0) 9/12 mobidb-lite,hmmpanther:PTHR22938:SF0,hmmpanther:PTHR22938,Gene3D:3.30.40.10 0.8533 0.5202 0.371 0.5616 0.4652 0.8154 0.565 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 0.5361 0.8253 0.447 0.5317 0.4064 0.5896 0.5573 0.5362 0.4647 1999639 HMOX2 . GRCh38 chr16 4483743 4483743 + Splice_Region SNP G G C rs1359684911 7316-2156 BS_H9813KRS G G c.-42+5G>C ENST00000572812 99 90 7 43 43 0 HMOX2,splice_region_variant,,ENST00000572812,;HMOX2,5_prime_UTR_variant,,ENST00000458134,NM_001127204.1;HMOX2,5_prime_UTR_variant,,ENST00000570445,;HMOX2,intron_variant,,ENST00000219700,;HMOX2,intron_variant,,ENST00000406590,NM_001127206.2;HMOX2,intron_variant,,ENST00000570646,;HMOX2,intron_variant,,ENST00000574466,;HMOX2,intron_variant,,ENST00000575051,;HMOX2,intron_variant,,ENST00000575120,NM_001286271.1;HMOX2,intron_variant,,ENST00000576827,;HMOX2,intron_variant,,ENST00000619528,NM_001286269.1;HMOX2,intron_variant,,ENST00000619913,NM_001286268.1,NM_002134.3;HMOX2,non_coding_transcript_exon_variant,,ENST00000574594,;NMRAL1,intron_variant,,ENST00000572559,; C ENSG00000103415 ENST00000572812 Transcript splice_region_variant,intron_variant rs1359684911 1 1 HMOX2 HGNC HGNC:5014 protein_coding ENSP00000459445 I3L276 UPI00025A2F7E 2/4 LOW SNV 4 PASS GGT . . 4483743 SH2B1 . GRCh38 chr16 28871920 28871920 + Missense_Mutation SNP A A G rs7498665 7316-2156 BS_H9813KRS A A c.1450A>G p.Thr484Ala p.T484A ENST00000322610 8/11 76 61 7 29 24 0 SH2B1,missense_variant,p.Thr484Ala,ENST00000337120,NM_015503.2,NM_001145812.1,NM_001145796.1;SH2B1,missense_variant,p.Thr484Ala,ENST00000322610,NM_001308293.1;SH2B1,missense_variant,p.Thr484Ala,ENST00000359285,NM_001145797.1;SH2B1,missense_variant,p.Thr484Ala,ENST00000618521,NM_001145795.1;SH2B1,missense_variant,p.Thr484Ala,ENST00000395532,;SH2B1,missense_variant,p.Thr148Ala,ENST00000538342,NM_001308294.1;SH2B1,missense_variant,p.Thr174Ala,ENST00000545570,;SH2B1,missense_variant,p.Thr171Ala,ENST00000566176,;SH2B1,downstream_gene_variant,,ENST00000561629,;SH2B1,downstream_gene_variant,,ENST00000567536,;SH2B1,upstream_gene_variant,,ENST00000568868,;SH2B1,upstream_gene_variant,,ENST00000569651,;SH2B1,intron_variant,,ENST00000563674,;SH2B1,non_coding_transcript_exon_variant,,ENST00000569471,; G ENSG00000178188 ENST00000322610 Transcript missense_variant 1889/3095 1450/2271 484/756 T/A Aca/Gca rs7498665,CM0910248,COSM3754833,COSM3754832,COSM148065 1 1 SH2B1 HGNC HGNC:30417 protein_coding YES CCDS53996.1 ENSP00000321221 Q9NRF2 A0A024QZD2 UPI00001AF36C NM_001308293.1 tolerated(1) benign(0) 8/11 mobidb-lite,hmmpanther:PTHR10872,hmmpanther:PTHR10872:SF3 0.2614 0.2277 0.4856 0.126 0.329 0.2178 0.2704 0.3814 0,0,1,1,1 24392269,26543368,20816195,26833246,19526209,20816152,20712903,21357383,19079261,20110568,21750520,19164386,20616199,19079260,19478790,20127379,20966902,21466928,21976109,22051089,23339409,24278702,20397748,19553259,21912638,25269698,23563607,26480920,25126397,25955518,21552555,20369022,20824172,21267540,21773002,22384102,20421936,21152014,23712987,23640704,24528214,27465381,21283731,22513296,23270367,25093408,26075635,19910641,19910938,20386550,20725061,22029802,22083549,23861046,26495240,17228025,21907990,27530450,26263223,23950976,22791748,23393431,26912320,23526194,23628854,24971614,24498077,24560518,23431394,26449484,24548628,25825681,19324104,28774272,24621099,27605733,24860936,25969149 MODERATE 1 SNV 2 1,1,1,1,1 1 PASS AAC . . 0.3522 0.2675 0.4878 0.2755 0.102 0.4251 0.3882 0.3541 0.229 28871920 AC093512.2 . GRCh38 chr16 30069675 30069675 + Splice_Site SNP T T G rs113222518 7316-2156 BS_H9813KRS T T c.811+2T>G p.X271_splice ENST00000627059 110 95 11 30 30 0 AC093512.2,splice_donor_variant,,ENST00000338110,;ALDOA,splice_donor_variant,,ENST00000395240,;AC093512.2,splice_donor_variant,,ENST00000395248,;ALDOA,splice_donor_variant,,ENST00000412304,NM_001127617.2;ALDOA,splice_donor_variant,,ENST00000563060,NM_184043.2,NM_000034.3;ALDOA,splice_donor_variant,,ENST00000564546,NM_184041.2;ALDOA,splice_donor_variant,,ENST00000564595,NM_001243177.1;ALDOA,splice_donor_variant,,ENST00000564688,;ALDOA,splice_donor_variant,,ENST00000565355,;AC093512.2,splice_donor_variant,,ENST00000566897,NM_001355562.1;ALDOA,splice_donor_variant,,ENST00000569545,;ALDOA,splice_donor_variant,,ENST00000569798,;AC093512.2,splice_donor_variant,,ENST00000627059,;ALDOA,splice_donor_variant,,ENST00000642816,;ALDOA,splice_donor_variant,,ENST00000643777,;ALDOA,downstream_gene_variant,,ENST00000562168,;ALDOA,downstream_gene_variant,,ENST00000562679,;ALDOA,downstream_gene_variant,,ENST00000563987,;ALDOA,downstream_gene_variant,,ENST00000566846,;AC093512.2,downstream_gene_variant,,ENST00000568435,;AC093512.1,upstream_gene_variant,,ENST00000617969,;ALDOA,downstream_gene_variant,,ENST00000566012,;ALDOA,splice_donor_variant,,ENST00000564521,;ALDOA,splice_donor_variant,,ENST00000566130,;ALDOA,downstream_gene_variant,,ENST00000562302,;ALDOA,downstream_gene_variant,,ENST00000566146,;ALDOA,downstream_gene_variant,,ENST00000567555,; G ENSG00000285043 ENST00000627059 Transcript splice_donor_variant rs113222518 1 1 AC093512.2 Clone_based_ensembl_gene protein_coding YES ENSP00000485952 J3KPS3 UPI0000D4C623 12/13 HIGH SNV 5 1 PASS GTG . . 30069675 FUS . GRCh38 chr16 31184003 31184003 + Splice_Site SNP G G T rs1199295385 7316-2156 BS_H9813KRS G G c.335+1G>T p.X112_splice ENST00000254108 105 90 14 25 25 0 FUS,splice_donor_variant,,ENST00000254108,NM_004960.3,NM_001170937.1;FUS,splice_donor_variant,,ENST00000380244,NM_001170634.1;FUS,splice_donor_variant,,ENST00000568685,;AC009088.2,upstream_gene_variant,,ENST00000564743,;FUS,upstream_gene_variant,,ENST00000474990,;FUS,splice_donor_variant,,ENST00000487509,;FUS,splice_donor_variant,,ENST00000487974,;FUS,splice_donor_variant,,ENST00000566605,;FUS,downstream_gene_variant,,ENST00000487045,;FUS,upstream_gene_variant,,ENST00000564766,;FUS,upstream_gene_variant,,ENST00000568901,;FUS,upstream_gene_variant,,ENST00000570090,; T ENSG00000089280 ENST00000254108 Transcript splice_donor_variant rs1199295385 1 1 FUS HGNC HGNC:4010 protein_coding YES CCDS10707.1 ENSP00000254108 P35637 Q6IBQ5 UPI000012AD9A NM_004960.3,NM_001170937.1 4/14 HIGH 1 SNV 1 1 PASS GGT . . 31184003 CDH11 . GRCh38 chr16 64991815 64991815 + Missense_Mutation SNP G G A rs35195 7316-2156 BS_H9813KRS G G c.764C>T p.Thr255Met p.T255M ENST00000268603 6/13 118 107 10 45 45 0 CDH11,missense_variant,p.Thr255Met,ENST00000394156,NM_001308392.1;CDH11,missense_variant,p.Thr255Met,ENST00000268603,NM_001797.3;CDH11,missense_variant,p.Thr129Met,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000567934,;CDH11,upstream_gene_variant,,ENST00000619158,;CDH11,non_coding_transcript_exon_variant,,ENST00000569128,; A ENSG00000140937 ENST00000268603 Transcript missense_variant 1380/6857 764/2391 255/796 T/M aCg/aTg rs35195,COSM4129166,COSM4129165 1 -1 CDH11 HGNC HGNC:1750 protein_coding YES CCDS10803.1 ENSP00000268603 P55287 UPI000013D7C5 NM_001797.3 deleterious(0.02) possibly_damaging(0.849) 6/13 Gene3D:2.60.350.10,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 0.1815 0.0234 0.2075 0.2044 0.331 0.1994 0.07286 0.356 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CGT . . 0.2712 0.0638 0.171 0.3264 0.21 0.2533 0.3527 0.295 0.2134 64991815 HP . GRCh38 chr16 72056157 72056157 + Splice_Region SNP G G T novel 7316-2156 BS_H9813KRS G G c.6-4G>T ENST00000355906 305 101 10 34 34 0 HP,splice_region_variant,,ENST00000228226,;HP,splice_region_variant,,ENST00000355906,NM_005143.4;HP,splice_region_variant,,ENST00000357763,;HP,splice_region_variant,,ENST00000398131,NM_001126102.2;HP,splice_region_variant,,ENST00000562526,;HP,splice_region_variant,,ENST00000564499,;HP,splice_region_variant,,ENST00000565574,NM_001318138.1;HP,splice_region_variant,,ENST00000568417,;HP,splice_region_variant,,ENST00000569639,;HP,splice_region_variant,,ENST00000570083,;HP,splice_region_variant,,ENST00000613898,;TXNL4B,intron_variant,,ENST00000562153,;HP,upstream_gene_variant,,ENST00000567185,;HP,upstream_gene_variant,,ENST00000567612,;HP,upstream_gene_variant,,ENST00000576168,;HP,splice_region_variant,,ENST00000562488,;HP,splice_region_variant,,ENST00000565807,;HP,non_coding_transcript_exon_variant,,ENST00000566821,;HP,upstream_gene_variant,,ENST00000561927,; T ENSG00000257017 ENST00000355906 Transcript splice_region_variant,intron_variant 1 1 HP HGNC HGNC:5141 protein_coding YES CCDS45524.1 ENSP00000348170 P00738 UPI000012CB71 NM_005143.4 1/6 LOW 1 SNV 1 1 PASS TGC . . 72056157 HP . GRCh38 chr16 72056158 72056158 + Splice_Region SNP C C G rs111523298 7316-2156 BS_H9813KRS C C c.6-3C>G ENST00000355906 314 100 17 33 33 0 HP,splice_region_variant,,ENST00000228226,;HP,splice_region_variant,,ENST00000355906,NM_005143.4;HP,splice_region_variant,,ENST00000357763,;HP,splice_region_variant,,ENST00000398131,NM_001126102.2;HP,splice_region_variant,,ENST00000562526,;HP,splice_region_variant,,ENST00000564499,;HP,splice_region_variant,,ENST00000565574,NM_001318138.1;HP,splice_region_variant,,ENST00000568417,;HP,splice_region_variant,,ENST00000569639,;HP,splice_region_variant,,ENST00000570083,;HP,splice_region_variant,,ENST00000613898,;TXNL4B,intron_variant,,ENST00000562153,;HP,upstream_gene_variant,,ENST00000567185,;HP,upstream_gene_variant,,ENST00000567612,;HP,upstream_gene_variant,,ENST00000576168,;HP,splice_region_variant,,ENST00000562488,;HP,splice_region_variant,,ENST00000565807,;HP,non_coding_transcript_exon_variant,,ENST00000566821,;HP,upstream_gene_variant,,ENST00000561927,; G ENSG00000257017 ENST00000355906 Transcript splice_region_variant,intron_variant rs111523298 1 1 HP HGNC HGNC:5141 protein_coding YES CCDS45524.1 ENSP00000348170 P00738 UPI000012CB71 NM_005143.4 1/6 LOW 1 SNV 1 1 PASS GCA . . 72056158 HP . GRCh38 chr16 72059111 72059111 + Splice_Region SNP C C A novel 7316-2156 BS_H9813KRS C C c.368-3C>A ENST00000355906 105 64 10 27 27 0 HP,splice_region_variant,,ENST00000355906,NM_005143.4;HP,splice_region_variant,,ENST00000357763,;HP,splice_region_variant,,ENST00000398131,NM_001126102.2;HP,splice_region_variant,,ENST00000562526,;HP,splice_region_variant,,ENST00000564499,;HP,splice_region_variant,,ENST00000567185,;HP,splice_region_variant,,ENST00000567612,;HP,splice_region_variant,,ENST00000568417,;HP,splice_region_variant,,ENST00000569639,;HP,splice_region_variant,,ENST00000570083,;HP,splice_region_variant,,ENST00000576168,;HP,intron_variant,,ENST00000228226,;TXNL4B,intron_variant,,ENST00000562153,;HP,intron_variant,,ENST00000565574,NM_001318138.1;HP,intron_variant,,ENST00000613898,;HPR,upstream_gene_variant,,ENST00000356967,;HPR,upstream_gene_variant,,ENST00000540303,NM_020995.3;HPR,upstream_gene_variant,,ENST00000561690,;HP,splice_region_variant,,ENST00000566821,;HP,downstream_gene_variant,,ENST00000561927,;HP,downstream_gene_variant,,ENST00000562488,;HP,downstream_gene_variant,,ENST00000565807,;HPR,upstream_gene_variant,,ENST00000566168,; A ENSG00000257017 ENST00000355906 Transcript splice_region_variant,intron_variant 1 1 HP HGNC HGNC:5141 protein_coding YES CCDS45524.1 ENSP00000348170 P00738 UPI000012CB71 NM_005143.4 5/6 LOW 1 SNV 1 1 PASS TCA . . 72059111 HP . GRCh38 chr16 72059112 72059112 + Splice_Site SNP A A T 7316-2156 BS_H9813KRS A A c.368-2A>T p.X123_splice ENST00000355906 107 66 10 26 26 0 HP,splice_acceptor_variant,,ENST00000355906,NM_005143.4;HP,splice_acceptor_variant,,ENST00000357763,;HP,splice_acceptor_variant,,ENST00000398131,NM_001126102.2;HP,splice_acceptor_variant,,ENST00000562526,;HP,splice_acceptor_variant,,ENST00000564499,;HP,splice_acceptor_variant,,ENST00000567612,;HP,splice_acceptor_variant,,ENST00000568417,;HP,splice_acceptor_variant,,ENST00000569639,;HP,splice_acceptor_variant,,ENST00000570083,;HP,splice_acceptor_variant,,ENST00000576168,;HP,splice_region_variant,,ENST00000567185,;HP,intron_variant,,ENST00000228226,;TXNL4B,intron_variant,,ENST00000562153,;HP,intron_variant,,ENST00000565574,NM_001318138.1;HP,intron_variant,,ENST00000613898,;HPR,upstream_gene_variant,,ENST00000356967,;HPR,upstream_gene_variant,,ENST00000540303,NM_020995.3;HPR,upstream_gene_variant,,ENST00000561690,;HP,splice_acceptor_variant,,ENST00000566821,;HP,downstream_gene_variant,,ENST00000561927,;HP,downstream_gene_variant,,ENST00000562488,;HP,downstream_gene_variant,,ENST00000565807,;HPR,upstream_gene_variant,,ENST00000566168,; T ENSG00000257017 ENST00000355906 Transcript splice_acceptor_variant COSM1629981 1 1 HP HGNC HGNC:5141 protein_coding YES CCDS45524.1 ENSP00000348170 P00738 UPI000012CB71 NM_005143.4 5/6 1 HIGH 1 SNV 1 1 1 PASS CAG . . 72059112 CYBA . GRCh38 chr16 88646828 88646828 + Missense_Mutation SNP A A G rs4673 7316-2156 BS_H9813KRS A A c.214T>C p.Tyr72His p.Y72H ENST00000261623 4/6 118 94 17 44 43 0 CYBA,missense_variant,p.Tyr72His,ENST00000569359,;CYBA,missense_variant,p.Tyr72His,ENST00000567174,;CYBA,missense_variant,p.Tyr72His,ENST00000261623,NM_000101.3;CYBA,missense_variant,p.Tyr72His,ENST00000568278,;CYBA,missense_variant,p.Val68Ala,ENST00000566229,;CYBA,upstream_gene_variant,,ENST00000565588,;CYBA,downstream_gene_variant,,ENST00000561972,;CYBA,non_coding_transcript_exon_variant,,ENST00000563526,;CYBA,non_coding_transcript_exon_variant,,ENST00000566534,;CYBA,non_coding_transcript_exon_variant,,ENST00000562209,; G ENSG00000051523 ENST00000261623 Transcript missense_variant 353/797 214/588 72/195 Y/H Tac/Cac rs4673,CM983302,COSM3755197 1 -1 CYBA HGNC HGNC:2577 protein_coding YES CCDS32504.1 ENSP00000261623 P13498 UPI000013D1BE NM_000101.3 tolerated(0.28) probably_damaging(0.999) 4/6 Pfam_domain:PF05038,PIRSF_domain:PIRSF019635,hmmpanther:PTHR15168 0.6643 0.4917 0.6931 0.9157 0.6581 0.6247 0.5532 0.6565 benign 0,0,1 20565774,22024213,19379518,22879966,27277665,25741868,24562334,24895604,26648684,16595073,26627480,20581851,21963893,18182569,27618304,3368442,9445163,10440830,16330681,16608528,17825092,19388116,19423521,19448608,20100625,21048526,21902598,21962117,22199011,22410402,22470385,22919264,23560644,23725037,23821607,24156725,25168315,26660092,26862503,27314008,27901128,27926811,21935354,18413200,20598694,17214994,17437735,16018837,19126404,19486980,20080081 MODERATE 1 SNV 1 1,1,1 1 PASS TAC . . 0.6975 0.5494 0.771 0.5677 0.9139 0.8211 0.6678 0.671 0.6347 88646828 CBFA2T3 . GRCh38 chr16 88886022 88886022 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.832A>C p.Ile278Leu p.I278L ENST00000268679 6/12 87 71 12 33 33 0 CBFA2T3,missense_variant,p.Ile278Leu,ENST00000268679,NM_005187.5;CBFA2T3,missense_variant,p.Ile192Leu,ENST00000327483,NM_175931.2;CBFA2T3,missense_variant,p.Ile217Leu,ENST00000569464,;AC092384.2,non_coding_transcript_exon_variant,,ENST00000565053,;AC092384.2,downstream_gene_variant,,ENST00000562405,;AC092384.2,downstream_gene_variant,,ENST00000562574,;AC092384.2,downstream_gene_variant,,ENST00000569249,;CBFA2T3,upstream_gene_variant,,ENST00000563856,;CBFA2T3,upstream_gene_variant,,ENST00000566868,; G ENSG00000129993 ENST00000268679 Transcript missense_variant 1229/4477 832/1962 278/653 I/L Atc/Ctc 1 -1 CBFA2T3 HGNC HGNC:1537 protein_coding YES CCDS10972.1 ENSP00000268679 O75081 UPI0000167F93 NM_005187.5 tolerated(0.78) benign(0) 6/12 hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6 MODERATE 1 SNV 1 1 PASS ATG . . 88886022 WDR81 . GRCh38 chr17 1726914 1726914 + Missense_Mutation SNP C C T rs57207396 7316-2156 BS_H9813KRS C C c.1955C>T p.Pro652Leu p.P652L ENST00000409644 1/10 116 103 6 30 30 0 WDR81,missense_variant,p.Pro652Leu,ENST00000409644,NM_001163809.1;WDR81,intron_variant,,ENST00000309182,NM_152348.3;WDR81,intron_variant,,ENST00000418841,;WDR81,intron_variant,,ENST00000419248,NM_001163811.1;WDR81,intron_variant,,ENST00000437219,NM_001163673.1;WDR81,intron_variant,,ENST00000446363,;WDR81,intron_variant,,ENST00000455636,;WDR81,intron_variant,,ENST00000468539,;WDR81,upstream_gene_variant,,ENST00000575206,;AC130343.1,intron_variant,,ENST00000576540,;WDR81,intron_variant,,ENST00000492901,;WDR81,upstream_gene_variant,,ENST00000464528,;WDR81,upstream_gene_variant,,ENST00000474958,;WDR81,upstream_gene_variant,,ENST00000479966,;WDR81,upstream_gene_variant,,ENST00000495411,; T ENSG00000167716 ENST00000409644 Transcript missense_variant 1955/6733 1955/5826 652/1941 P/L cCg/cTg rs57207396,COSM4129616 1 1 WDR81 HGNC HGNC:26600 protein_coding YES CCDS54062.1 ENSP00000386609 Q562E7 UPI0001881A85 NM_001163809.1 deleterious(0.03) benign(0.003) 1/10 hmmpanther:PTHR44662 0.2332 0.0303 0.1988 0.4821 0.2604 0.2474 likely_benign 0,1 MODERATE 1 SNV 1 0,1 1 PASS CCG . . 0.2561 0.0497 0.1706 0.2981 0.5013 0.2765 0.2635 0.242 0.2553 1726914 ENO3 . GRCh38 chr17 4956885 4956885 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1231A>C p.Met411Leu p.M411L ENST00000323997 11/12 102 88 9 44 43 0 ENO3,missense_variant,p.Met411Leu,ENST00000323997,NM_001976.4,NM_053013.3;ENO3,missense_variant,p.Met411Leu,ENST00000518175,;ENO3,missense_variant,p.Met368Leu,ENST00000519584,NM_001193503.1;SPAG7,downstream_gene_variant,,ENST00000206020,NM_004890.2;ENO3,downstream_gene_variant,,ENST00000519266,;ENO3,downstream_gene_variant,,ENST00000519602,;ENO3,downstream_gene_variant,,ENST00000520221,;ENO3,downstream_gene_variant,,ENST00000521811,;ENO3,downstream_gene_variant,,ENST00000522249,;ENO3,downstream_gene_variant,,ENST00000522301,;ENO3,downstream_gene_variant,,ENST00000522798,;SPAG7,downstream_gene_variant,,ENST00000573366,;SPAG7,downstream_gene_variant,,ENST00000575142,;ENO3,non_coding_transcript_exon_variant,,ENST00000522954,;ENO3,non_coding_transcript_exon_variant,,ENST00000522425,;ENO3,downstream_gene_variant,,ENST00000518972,;ENO3,downstream_gene_variant,,ENST00000519300,;ENO3,downstream_gene_variant,,ENST00000519834,;ENO3,downstream_gene_variant,,ENST00000521659,;ENO3,downstream_gene_variant,,ENST00000571235,;SPAG7,downstream_gene_variant,,ENST00000572148,;SPAG7,downstream_gene_variant,,ENST00000573805,;SPAG7,downstream_gene_variant,,ENST00000575784,;,regulatory_region_variant,,ENSR00000282182,; C ENSG00000108515 ENST00000323997 Transcript missense_variant 1363/1521 1231/1305 411/434 M/L Atg/Ctg 1 1 ENO3 HGNC HGNC:3354 protein_coding YES CCDS11062.1 ENSP00000324105 P13929 UPI000016A894 NM_001976.4,NM_053013.3 tolerated_low_confidence(1) benign(0) 11/12 SFLDS00001,SFLDG00178,SFLDF00002,cd03313,PIRSF_domain:PIRSF001400,Gene3D:3.20.20.120,TIGRFAM_domain:TIGR01060,Pfam_domain:PF00113,SMART_domains:SM01192,Superfamily_domains:SSF51604,HAMAP:MF_00318,hmmpanther:PTHR11902:SF5,hmmpanther:PTHR11902 MODERATE SNV 5 1 PASS CAT . . 4956885 BORCS6 . GRCh38 chr17 8189383 8189383 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.758T>G p.Ile253Ser p.I253S ENST00000389017 1/1 111 84 18 41 40 0 BORCS6,missense_variant,p.Ile253Ser,ENST00000389017,NM_017622.2;MIR4521,downstream_gene_variant,,ENST00000635897,;AC129492.7,non_coding_transcript_exon_variant,,ENST00000622992,;,regulatory_region_variant,,ENSR00000090970,; C ENSG00000196544 ENST00000389017 Transcript missense_variant 1525/2575 758/1074 253/357 I/S aTt/aGt 1 -1 BORCS6 HGNC HGNC:25939 protein_coding YES CCDS11133.2 ENSP00000373669 Q96GS4 UPI000022A2C3 NM_017622.2 deleterious(0.05) probably_damaging(0.994) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13440,Pfam_domain:PF10157 MODERATE 1 SNV PASS AAT . . 8189383 AKAP10 . GRCh38 chr17 19977612 19977612 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.68T>G p.Met23Arg p.M23R ENST00000225737 1/15 127 108 11 37 37 0 AKAP10,missense_variant,p.Met23Arg,ENST00000225737,NM_007202.3;AKAP10,missense_variant,p.Met23Arg,ENST00000395536,;AKAP10,missense_variant,p.Met23Arg,ENST00000576896,;AKAP10,intron_variant,,ENST00000572155,;AKAP10,missense_variant,p.Met23Arg,ENST00000582611,;AKAP10,missense_variant,p.Met23Arg,ENST00000571858,;AKAP10,missense_variant,p.Met23Arg,ENST00000572341,;,regulatory_region_variant,,ENSR00000092303,; C ENSG00000108599 ENST00000225737 Transcript missense_variant 226/4072 68/1989 23/662 M/R aTg/aGg 1 -1 AKAP10 HGNC HGNC:368 protein_coding YES CCDS11214.1 ENSP00000225737 O43572 A0A0S2Z4Z7 UPI000006E08E NM_007202.3 deleterious_low_confidence(0) benign(0.068) 1/15 mobidb-lite MODERATE 1 SNV 1 1 PASS CAT . . 19977612 AC138207.8 . GRCh38 chr17 31008805 31008805 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T n.307+2T>G ENST00000579692 104 88 8 34 33 0 AC138207.8,splice_donor_variant,,ENST00000579692,;AC138207.8,splice_donor_variant,,ENST00000580190,;AC138207.8,splice_donor_variant,,ENST00000582483,;,regulatory_region_variant,,ENSR00000093050,;AC138207.8,splice_donor_variant,,ENST00000579588,;AC138207.3,upstream_gene_variant,,ENST00000585289,;,TF_binding_site_variant,,MA0103.2,; G ENSG00000266865 ENST00000579692 Transcript splice_donor_variant,non_coding_transcript_variant 1 1 AC138207.8 Clone_based_ensembl_gene processed_transcript YES 1/1 HIGH 1 SNV 3 PASS GTG . . 31008805 SRCIN1 . GRCh38 chr17 38561905 38561905 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1258T>G p.Tyr420Asp p.Y420D ENST00000617146 7/19 71 58 9 34 33 0 SRCIN1,missense_variant,p.Tyr420Asp,ENST00000617146,NM_025248.2;SRCIN1,missense_variant,p.Tyr454Asp,ENST00000621492,;SRCIN1,missense_variant,p.Tyr208Asp,ENST00000622190,;SRCIN1,downstream_gene_variant,,ENST00000612431,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000621763,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000622519,;SRCIN1,upstream_gene_variant,,ENST00000612208,; C ENSG00000277363 ENST00000617146 Transcript missense_variant 1483/7058 1258/3552 420/1183 Y/D Tac/Gac 1 -1 SRCIN1 HGNC HGNC:29506 protein_coding YES CCDS45660.1 ENSP00000484715 Q9C0H9 UPI0000E27F82 NM_025248.2 tolerated(0.17) benign(0.031) 7/19 hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF5 MODERATE 1 SNV 1 PASS TAG . . 38561905 RPL23 . GRCh38 chr17 38853020 38853020 + Splice_Site SNP A A T rs112538197 7316-2156 BS_H9813KRS A A c.97+2T>A p.X33_splice ENST00000479035 114 101 12 45 45 0 RPL23,splice_donor_variant,,ENST00000245857,;RPL23,splice_donor_variant,,ENST00000378096,;RPL23,splice_donor_variant,,ENST00000394332,;RPL23,splice_donor_variant,,ENST00000394333,;RPL23,splice_donor_variant,,ENST00000470646,;RPL23,splice_donor_variant,,ENST00000479035,NM_000978.3;RPL23,splice_donor_variant,,ENST00000577407,;SNORA21,upstream_gene_variant,,ENST00000362423,;SNORA21B,upstream_gene_variant,,ENST00000516890,;RPL23,splice_donor_variant,,ENST00000584912,;RPL23,non_coding_transcript_exon_variant,,ENST00000577760,;RPL23,non_coding_transcript_exon_variant,,ENST00000584056,;RPL23,upstream_gene_variant,,ENST00000584583,;,regulatory_region_variant,,ENSR00000093824,;AC110749.1,upstream_gene_variant,,ENST00000462007,; T ENSG00000125691 ENST00000479035 Transcript splice_donor_variant rs112538197 1 -1 RPL23 HGNC HGNC:10316 protein_coding YES CCDS11330.1 ENSP00000420311 P62829 A0A024R1Q8 UPI0000006BF5 NM_000978.3 2/4 HIGH 1 SNV 1 PASS CAC . . 38853020 FBXL20 . GRCh38 chr17 39401401 39401401 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.2T>G p.Met1? p.M1? ENST00000264658 1/15 79 64 8 32 32 0 FBXL20,start_lost,p.Met1?,ENST00000264658,NM_032875.2;FBXL20,start_lost,p.Met1?,ENST00000394294,NM_001184906.1;FBXL20,start_lost,p.Met1?,ENST00000583610,;FBXL20,intron_variant,,ENST00000577399,;FBXL20,intron_variant,,ENST00000647139,;MED1,downstream_gene_variant,,ENST00000394287,;AC005288.1,upstream_gene_variant,,ENST00000582842,;,regulatory_region_variant,,ENSR00000093927,; C ENSG00000108306 ENST00000264658 Transcript start_lost 263/10388 2/1311 1/436 M/R aTg/aGg 1 -1 FBXL20 HGNC HGNC:24679 protein_coding YES CCDS32640.1 ENSP00000264658 Q96IG2 UPI000000D932 NM_032875.2 deleterious_low_confidence(0) benign(0) 1/15 hmmpanther:PTHR44001,hmmpanther:PTHR44001:SF3 HIGH 1 SNV 1 PASS CAT . . 39401401 CASC3 . GRCh38 chr17 40140599 40140599 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.51A>C p.Glu17Asp p.E17D ENST00000264645 1/14 94 73 14 19 18 0 CASC3,missense_variant,p.Glu17Asp,ENST00000264645,NM_007359.4;MSL1,downstream_gene_variant,,ENST00000398532,;CASC3,upstream_gene_variant,,ENST00000584997,;CASC3,non_coding_transcript_exon_variant,,ENST00000418132,;CASC3,non_coding_transcript_exon_variant,,ENST00000581849,;CASC3,non_coding_transcript_exon_variant,,ENST00000583649,;MSL1,downstream_gene_variant,,ENST00000339569,;MSL1,downstream_gene_variant,,ENST00000580086,;,regulatory_region_variant,,ENSR00000094037,; C ENSG00000108349 ENST00000264645 Transcript missense_variant 277/4116 51/2112 17/703 E/D gaA/gaC 1 1 CASC3 HGNC HGNC:17040 protein_coding YES CCDS11362.1 ENSP00000264645 O15234 UPI000000DAAA NM_007359.4 tolerated_low_confidence(0.73) benign(0.012) 1/14 PDB-ENSP_mappings:5xjc.x,hmmpanther:PTHR13434,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAT . . 40140599 GJD3 . GRCh38 chr17 40363814 40363814 + Translation_Start_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.2T>G p.Met1? p.M1? ENST00000578689 1/1 105 89 12 37 37 0 GJD3,start_lost,p.Met1?,ENST00000578689,NM_152219.3;AC080112.1,non_coding_transcript_exon_variant,,ENST00000578774,;PPIAP54,upstream_gene_variant,,ENST00000583752,; C ENSG00000183153 ENST00000578689 Transcript start_lost 2/885 2/885 1/294 M/R aTg/aGg 1 -1 GJD3 HGNC HGNC:19147 protein_coding YES CCDS58547.1 ENSP00000463752 Q8N144 UPI0000072C0F NM_152219.3 deleterious(0) probably_damaging(0.998) 1/1 hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF5 HIGH SNV PASS CAT . . 40363814 C17orf113 . GRCh38 chr17 42039860 42039860 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1873T>G p.Trp625Gly p.W625G ENST00000587304 3/3 109 88 12 30 30 0 C17orf113,missense_variant,p.Trp625Gly,ENST00000587304,;ZNF385C,intron_variant,,ENST00000436535,;ZNF385C,upstream_gene_variant,,ENST00000618554,NM_001242704.1; C ENSG00000267221 ENST00000587304 Transcript missense_variant 2118/3746 1873/2028 625/675 W/G Tgg/Ggg 1 -1 C17orf113 HGNC HGNC:53437 protein_coding YES ENSP00000490245 A0A1B0GUU1 UPI00021AECEB tolerated(0.17) benign(0) 3/3 hmmpanther:PTHR11697:SF183,hmmpanther:PTHR11697 MODERATE 1 SNV 5 PASS CAC . . 42039860 KAT2A . GRCh38 chr17 42121189 42121189 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.116T>G p.Ile39Ser p.I39S ENST00000225916 1/18 114 86 13 48 45 0 KAT2A,missense_variant,p.Ile39Ser,ENST00000225916,NM_021078.2;AC099811.2,intron_variant,,ENST00000592574,;RAB5C,downstream_gene_variant,,ENST00000346213,NM_004583.3,NM_201434.2;RAB5C,downstream_gene_variant,,ENST00000393860,;RAB5C,downstream_gene_variant,,ENST00000547517,NM_001252039.1;HSPB9,upstream_gene_variant,,ENST00000565659,NM_033194.2;AC099811.2,intron_variant,,ENST00000585562,;AC099811.2,intron_variant,,ENST00000592248,;KAT2A,upstream_gene_variant,,ENST00000465682,;KAT2A,upstream_gene_variant,,ENST00000592310,;,regulatory_region_variant,,ENSR00000094340,; C ENSG00000108773 ENST00000225916 Transcript missense_variant 170/3109 116/2514 39/837 I/S aTt/aGt 1 -1 KAT2A HGNC HGNC:4201 protein_coding YES CCDS11417.1 ENSP00000225916 Q92830 UPI000000D978 NM_021078.2 tolerated_low_confidence(0.75) benign(0) 1/18 PIRSF_domain:PIRSF003048,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAT . . 42121189 CAVIN1 . GRCh38 chr17 42423077 42423077 + Nonsense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.21T>G p.Tyr7Ter p.Y7* ENST00000357037 1/2 149 124 14 34 34 0 CAVIN1,stop_gained,p.Tyr7Ter,ENST00000357037,NM_012232.5;,regulatory_region_variant,,ENSR00000094399,; C ENSG00000177469 ENST00000357037 Transcript stop_gained 441/3828 21/1173 7/390 Y/* taT/taG 1 -1 CAVIN1 HGNC HGNC:9688 protein_coding YES CCDS11425.1 ENSP00000349541 Q6NZI2 UPI00001AF3C2 NM_012232.5 1/2 hmmpanther:PTHR15240,hmmpanther:PTHR15240:SF3,mobidb-lite HIGH 1 SNV 1 1 PASS TAT . . 42423077 COL1A1 . GRCh38 chr17 50185650 50185650 + Splice_Site SNP T T G rs113187869 7316-2156 BS_H9813KRS T T c.4249-2A>C p.X1417_splice ENST00000225964 91 76 14 41 38 2 COL1A1,splice_acceptor_variant,,ENST00000225964,;HILS1,upstream_gene_variant,,ENST00000504307,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; G ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant rs113187869 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 50/50 HIGH 1 SNV 1 1 PASS CTG . . 50185650 COL1A1 . GRCh38 chr17 50186024 50186024 + Splice_Region SNP C C G rs1187267573 7316-2156 BS_H9813KRS C C c.4006-4G>C ENST00000225964 163 113 48 25 23 0 COL1A1,splice_region_variant,,ENST00000225964,;HILS1,upstream_gene_variant,,ENST00000504307,;COL1A1,non_coding_transcript_exon_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; G ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant rs1187267573 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 49/50 LOW 1 SNV 1 1 PASS GCA . . 50186024 COL1A1 . GRCh38 chr17 50186509 50186509 + Splice_Site SNP T T A novel 7316-2156 BS_H9813KRS T T c.3815-2A>T p.X1272_splice ENST00000225964 134 94 11 33 32 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,splice_acceptor_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; A ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 48/50 HIGH 1 SNV 1 1 PASS CTG . . 50186509 COL1A1 . GRCh38 chr17 50186510 50186510 + Splice_Region SNP G G C novel 7316-2156 BS_H9813KRS G G c.3815-3C>G ENST00000225964 131 96 7 33 32 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,splice_region_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 48/50 LOW 1 SNV 1 1 PASS TGT . . 50186510 COL1A1 . GRCh38 chr17 50186638 50186638 + Splice_Site SNP A A T rs112830882 7316-2156 BS_H9813KRS A A c.3814+2T>A p.X1272_splice ENST00000225964 533 94 10 31 29 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,splice_donor_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; T ENSG00000108821 ENST00000225964 Transcript splice_donor_variant rs112830882 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 48/50 HIGH 1 SNV 1 1 PASS CAC . . 50186638 COL1A1 . GRCh38 chr17 50186923 50186923 + Splice_Site SNP C C A 7316-2156 BS_H9813KRS C C c.3532-1G>T p.X1178_splice ENST00000225964 572 100 16 39 35 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,non_coding_transcript_exon_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; A ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant CD063485 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 47/50 HIGH 1 SNV 1 1 1 PASS CCT . . 50186923 COL1A1 . GRCh38 chr17 50186924 50186924 + Splice_Site SNP T T A 7316-2156 BS_H9813KRS T T c.3532-2A>T p.X1178_splice ENST00000225964 570 99 14 39 35 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,non_coding_transcript_exon_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; A ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant CS119805 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 47/50 HIGH 1 SNV 1 1 1 PASS CTG . . 50186924 COL1A1 . GRCh38 chr17 50186925 50186925 + Splice_Region SNP G G C novel 7316-2156 BS_H9813KRS G G c.3532-3C>G ENST00000225964 568 99 11 40 35 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,non_coding_transcript_exon_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 47/50 LOW 1 SNV 1 1 PASS TGC . . 50186925 COL1A1 . GRCh38 chr17 50188094 50188094 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.3261+2T>G p.X1087_splice ENST00000225964 106 88 13 29 29 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,splice_donor_variant,,ENST00000486572,;COL1A1,non_coding_transcript_exon_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 44/50 HIGH 1 SNV 1 1 PASS TAC . . 50188094 COL1A1 . GRCh38 chr17 50188526 50188526 + Splice_Region SNP T T G novel 7316-2156 BS_H9813KRS T T c.3207+4A>C ENST00000225964 530 94 8 38 38 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,non_coding_transcript_exon_variant,,ENST00000486572,;COL1A1,non_coding_transcript_exon_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;,regulatory_region_variant,,ENSR00000095623,; G ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 43/50 LOW 1 SNV 1 1 PASS CTT . . 50188526 COL1A1 . GRCh38 chr17 50188527 50188527 + Splice_Region SNP T T A novel 7316-2156 BS_H9813KRS T T c.3207+3A>T ENST00000225964 538 93 13 37 37 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,non_coding_transcript_exon_variant,,ENST00000486572,;COL1A1,non_coding_transcript_exon_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;,regulatory_region_variant,,ENSR00000095623,; A ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 43/50 LOW 1 SNV 1 1 PASS TTA . . 50188527 COL1A1 . GRCh38 chr17 50188528 50188528 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.3207+2T>G p.X1069_splice ENST00000225964 543 94 20 37 37 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,non_coding_transcript_exon_variant,,ENST00000486572,;COL1A1,non_coding_transcript_exon_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 43/50 HIGH 1 SNV 1 1 PASS TAC . . 50188528 COL1A1 . GRCh38 chr17 50188898 50188898 + Splice_Region SNP C C G novel 7316-2156 BS_H9813KRS C C c.3045+5G>C ENST00000225964 403 71 16 36 33 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; G ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 41/50 LOW 1 SNV 1 1 PASS GCT . . 50188898 COL1A1 . GRCh38 chr17 50188899 50188899 + Splice_Region SNP T T C novel 7316-2156 BS_H9813KRS T T c.3045+4A>G ENST00000225964 413 67 25 35 32 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 41/50 LOW 1 SNV 1 1 PASS CTC . . 50188899 COL1A1 . GRCh38 chr17 50188901 50188901 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.3045+2T>G p.X1015_splice ENST00000225964 442 72 50 38 35 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 41/50 HIGH 1 SNV 1 1 PASS CAC . . 50188901 COL1A1 . GRCh38 chr17 50189011 50189011 + Splice_Site SNP C C A novel 7316-2156 BS_H9813KRS C C c.2938-1G>T p.X980_splice ENST00000225964 446 77 43 34 32 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; A ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 40/50 HIGH 1 SNV 1 1 PASS CCT . . 50189011 COL1A1 . GRCh38 chr17 50189012 50189012 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2938-2A>C p.X980_splice ENST00000225964 444 77 40 34 32 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; G ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 40/50 HIGH 1 SNV 1 1 PASS CTA . . 50189012 COL1A1 . GRCh38 chr17 50189014 50189014 + Splice_Region SNP A A G novel 7316-2156 BS_H9813KRS A A c.2938-4T>C ENST00000225964 439 77 35 34 31 1 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; G ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 40/50 LOW 1 SNV 1 1 PASS AAG . . 50189014 COL1A1 . GRCh38 chr17 50189373 50189373 + Splice_Region SNP T T C novel 7316-2156 BS_H9813KRS T T c.2829+4A>G ENST00000225964 613 74 11 40 37 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 39/50 LOW 1 SNV 1 1 PASS CTT . . 50189373 COL1A1 . GRCh38 chr17 50189374 50189374 + Splice_Region SNP T T A 7316-2156 BS_H9813KRS T T c.2829+3A>T ENST00000225964 631 76 19 40 37 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; A ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant CS042155 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 39/50 LOW 1 SNV 1 1 1 PASS TTA . . 50189374 COL1A1 . GRCh38 chr17 50189375 50189375 + Splice_Site SNP A A C rs113739104 7316-2156 BS_H9813KRS A A c.2829+2T>G p.X943_splice ENST00000225964 639 77 31 40 36 1 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant rs113739104,COSM706973 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 39/50 0,1 HIGH 1 SNV 1 0,1 1 PASS TAC . . 50189375 COL1A1 . GRCh38 chr17 50189377 50189377 + Splice_Region SNP A A G novel 7316-2156 BS_H9813KRS A A c.2829T>C p.Ala943= p.A943= ENST00000225964 39/51 662 117 9 40 37 0 COL1A1,splice_region_variant,p.Ala943=,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; G ENSG00000108821 ENST00000225964 Transcript splice_region_variant,synonymous_variant 2948/6727 2829/4395 943/1464 A gcT/gcC 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 39/51 hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF569,mobidb-lite,Low_complexity_(Seg):seg LOW 1 SNV 1 1 PASS CAG . . 50189377 COL1A1 . GRCh38 chr17 50189539 50189539 + Splice_Site SNP C C A novel 7316-2156 BS_H9813KRS C C c.2668-1G>T p.X890_splice ENST00000225964 459 72 71 48 44 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; A ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 38/50 HIGH 1 SNV 1 1 PASS CCT . . 50189539 COL1A1 . GRCh38 chr17 50189540 50189540 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2668-2A>C p.X890_splice ENST00000225964 442 71 56 48 43 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; G ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 38/50 HIGH 1 SNV 1 1 PASS CTG . . 50189540 COL1A1 . GRCh38 chr17 50189541 50189541 + Splice_Region SNP G G A novel 7316-2156 BS_H9813KRS G G c.2668-3C>T ENST00000225964 421 70 39 49 45 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; A ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 38/50 LOW 1 SNV 1 1 PASS TGG . . 50189541 COL1A1 . GRCh38 chr17 50189913 50189913 + Splice_Site SNP C C A rs72653139 7316-2156 BS_H9813KRS C C c.2560-1G>T p.X854_splice ENST00000225964 122 110 7 38 34 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; A ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant rs72653139,CS071179 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 36/50 HIGH 1 SNV 1 0,1 1 PASS CCT . . 50189913 COL1A1 . GRCh38 chr17 50190110 50190110 + Splice_Site SNP T T G 7316-2156 BS_H9813KRS T T c.2452-2A>C p.X818_splice ENST00000225964 103 87 13 41 39 1 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; G ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant CS063265 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 35/50 HIGH 1 SNV 1 1 1 PASS CTG . . 50190110 COL1A1 . GRCh38 chr17 50190325 50190325 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.2451+2T>G p.X817_splice ENST00000225964 96 80 10 41 39 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,non_coding_transcript_exon_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 35/50 HIGH 1 SNV 1 1 PASS CAC . . 50190325 COL1A1 . GRCh38 chr17 50190541 50190541 + Splice_Site SNP A A C rs112262314 7316-2156 BS_H9813KRS A A c.2397+2T>G p.X799_splice ENST00000225964 99 82 15 36 36 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,non_coding_transcript_exon_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant rs112262314 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 34/50 HIGH 1 SNV 1 1 PASS TAC . . 50190541 COL1A1 . GRCh38 chr17 50190815 50190815 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.2343+2T>G p.X781_splice ENST00000225964 140 107 26 33 33 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,splice_donor_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 33/50 HIGH 1 SNV 1 1 PASS CAC . . 50190815 COL1A1 . GRCh38 chr17 50190925 50190925 + Splice_Site SNP C C T novel 7316-2156 BS_H9813KRS C C c.2236-1G>A p.X746_splice ENST00000225964 109 95 12 34 34 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,splice_acceptor_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; T ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 32/50 HIGH 1 SNV 1 1 PASS CCT . . 50190925 COL1A1 . GRCh38 chr17 50191786 50191786 + Splice_Site SNP A A C rs72651644 7316-2156 BS_H9813KRS A A c.2127+2T>G p.X709_splice ENST00000225964 101 85 11 38 37 1 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,splice_donor_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant rs72651644,CS042153,CS1210075 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 31/50 HIGH 1 SNV 1 0,1,1 1 PASS CAC . . 50191786 COL1A1 . GRCh38 chr17 50192028 50192028 + Splice_Region SNP A A T novel 7316-2156 BS_H9813KRS A A c.1984-4T>A ENST00000225964 130 119 8 50 50 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,splice_region_variant,,ENST00000476387,;COL1A1,non_coding_transcript_exon_variant,,ENST00000504289,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; T ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 29/50 LOW 1 SNV 1 1 PASS GAG . . 50192028 COL1A1 . GRCh38 chr17 50192473 50192473 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1983+2T>G p.X661_splice ENST00000225964 115 103 7 42 41 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,splice_donor_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000511732,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 29/50 HIGH 1 SNV 1 1 PASS TAC . . 50192473 COL1A1 . GRCh38 chr17 50192532 50192532 + Splice_Region SNP T T G novel 7316-2156 BS_H9813KRS T T c.1930-4A>C ENST00000225964 131 94 28 46 45 1 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,splice_region_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000511732,; G ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 28/50 LOW 1 SNV 1 1 PASS GTA . . 50192532 COL1A1 . GRCh38 chr17 50192851 50192851 + Splice_Site SNP C C G novel 7316-2156 BS_H9813KRS C C c.1822-1G>C p.X608_splice ENST00000225964 129 115 8 35 35 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,splice_acceptor_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000511732,; G ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 26/50 HIGH 1 SNV 1 1 PASS CCT . . 50192851 COL1A1 . GRCh38 chr17 50193936 50193936 + Splice_Region SNP T T C novel 7316-2156 BS_H9813KRS T T c.1767+7A>G ENST00000225964 578 95 10 27 27 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,splice_region_variant,,ENST00000476387,;COL1A1,non_coding_transcript_exon_variant,,ENST00000471344,;COL1A1,non_coding_transcript_exon_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,; C ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 25/50 LOW 1 SNV 1 1 PASS ATA . . 50193936 COL1A1 . GRCh38 chr17 50193937 50193937 + Splice_Region SNP A A T novel 7316-2156 BS_H9813KRS A A c.1767+6T>A ENST00000225964 583 101 10 27 27 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,splice_region_variant,,ENST00000476387,;COL1A1,non_coding_transcript_exon_variant,,ENST00000471344,;COL1A1,non_coding_transcript_exon_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,; T ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 25/50 LOW 1 SNV 1 1 PASS TAC . . 50193937 COL1A1 . GRCh38 chr17 50194042 50194042 + Splice_Site SNP C C A 7316-2156 BS_H9813KRS C C c.1669-1G>T p.X557_splice ENST00000225964 725 96 42 34 34 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,splice_acceptor_variant,,ENST00000463440,;COL1A1,non_coding_transcript_exon_variant,,ENST00000471344,;COL1A1,non_coding_transcript_exon_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,; A ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant CS1211674 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 24/50 HIGH 1 SNV 1 1 1 PASS CCT . . 50194042 COL1A1 . GRCh38 chr17 50194043 50194043 + Splice_Site SNP T T G 7316-2156 BS_H9813KRS T T c.1669-2A>C p.X557_splice ENST00000225964 719 93 39 34 33 1 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,splice_acceptor_variant,,ENST00000463440,;COL1A1,non_coding_transcript_exon_variant,,ENST00000471344,;COL1A1,non_coding_transcript_exon_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,; G ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant CS063262 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 24/50 HIGH 1 SNV 1 1 1 PASS CTA . . 50194043 COL1A1 . GRCh38 chr17 50194044 50194044 + Splice_Region SNP A A G novel 7316-2156 BS_H9813KRS A A c.1669-3T>C ENST00000225964 704 90 27 35 34 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,splice_region_variant,,ENST00000463440,;COL1A1,non_coding_transcript_exon_variant,,ENST00000471344,;COL1A1,non_coding_transcript_exon_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,; G ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 24/50 LOW 1 SNV 1 1 PASS TAA . . 50194044 COL1A1 . GRCh38 chr17 50194186 50194186 + Splice_Region SNP A A T novel 7316-2156 BS_H9813KRS A A c.1615-3T>A ENST00000225964 109 77 23 37 36 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,splice_region_variant,,ENST00000463440,;COL1A1,splice_region_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; T ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 23/50 LOW 1 SNV 1 1 PASS TAG . . 50194186 COL1A1 . GRCh38 chr17 50194450 50194450 + Splice_Region SNP G G T rs905691208 7316-2156 BS_H9813KRS G G c.1516-3C>A ENST00000225964 153 113 37 33 31 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_region_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; T ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant rs905691208 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 22/50 LOW 1 SNV 1 1 PASS TGG . . 50194450 COL1A1 . GRCh38 chr17 50194719 50194719 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1461+2T>G p.X487_splice ENST00000225964 455 92 26 39 38 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_donor_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 21/50 HIGH 1 SNV 1 1 PASS TAC . . 50194719 COL1A1 . GRCh38 chr17 50194829 50194829 + Splice_Site SNP C C A rs112101899 7316-2156 BS_H9813KRS C C c.1354-1G>T p.X452_splice ENST00000225964 591 96 39 41 39 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_acceptor_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; A ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant rs112101899 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 20/50 HIGH 1 SNV 1 1 PASS CCT . . 50194829 COL1A1 . GRCh38 chr17 50194830 50194830 + Splice_Site SNP T T G 7316-2156 BS_H9813KRS T T c.1354-2A>C p.X452_splice ENST00000225964 586 90 39 41 40 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_acceptor_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; G ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant CS033496 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 20/50 HIGH 1 SNV 1 1 1 PASS CTG . . 50194830 COL1A1 . GRCh38 chr17 50194832 50194832 + Splice_Region SNP G G C novel 7316-2156 BS_H9813KRS G G c.1354-4C>G ENST00000225964 572 94 24 39 39 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_region_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; C ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 20/50 LOW 1 SNV 1 1 PASS GGA . . 50194832 COL1A1 . GRCh38 chr17 50195043 50195043 + Splice_Region SNP T T G novel 7316-2156 BS_H9813KRS T T c.1353+4A>C ENST00000225964 286 100 9 39 39 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_region_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; G ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 20/50 LOW 1 SNV 1 1 PASS CTT . . 50195043 COL1A1 . GRCh38 chr17 50195044 50195044 + Splice_Region SNP T T G novel 7316-2156 BS_H9813KRS T T c.1353+3A>C ENST00000225964 287 99 11 40 40 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_region_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; G ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 20/50 LOW 1 SNV 1 1 PASS TTA . . 50195044 COL1A1 . GRCh38 chr17 50195045 50195045 + Splice_Site SNP A A C rs72648335 7316-2156 BS_H9813KRS A A c.1353+2T>G p.X451_splice ENST00000225964 292 97 14 39 39 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_donor_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant rs72648335,CS015379 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 20/50 HIGH 1 SNV 1 0,1 1 PASS TAC . . 50195045 COL1A1 . GRCh38 chr17 50195230 50195230 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1299+2T>G p.X433_splice ENST00000225964 127 100 21 26 25 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_donor_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 19/50 HIGH 1 SNV 1 1 PASS CAC . . 50195230 COL1A1 . GRCh38 chr17 50195331 50195331 + Splice_Site SNP C C A rs72648321 7316-2156 BS_H9813KRS C C c.1201-1G>T p.X401_splice ENST00000225964 140 117 20 36 35 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_acceptor_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; A ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant rs72648321,CS982123 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 18/50 HIGH 1 SNV 1 0,1 1 PASS CCT . . 50195331 COL1A1 . GRCh38 chr17 50195565 50195565 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1155+2T>G p.X385_splice ENST00000225964 129 101 19 37 37 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_donor_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 17/50 HIGH 1 SNV 1 1 PASS TAC . . 50195565 COL1A1 . GRCh38 chr17 50195668 50195668 + Splice_Region SNP G G T novel 7316-2156 BS_H9813KRS G G c.1057-3C>A ENST00000225964 137 117 17 43 43 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,upstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;,regulatory_region_variant,,ENSR00000095624,; T ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 16/50 LOW 1 SNV 1 1 PASS TGA . . 50195668 COL1A1 . GRCh38 chr17 50197008 50197008 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.804+2T>G p.X268_splice ENST00000225964 117 91 22 49 49 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_donor_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,upstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000504289,;,TF_binding_site_variant,,MA0491.1,;,TF_binding_site_variant,,MA0491.1,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 11/50 HIGH 1 SNV 1 1 PASS CAC . . 50197008 COL1A1 . GRCh38 chr17 50197730 50197730 + Splice_Site SNP A A C rs72645313 7316-2156 BS_H9813KRS A A c.696+2T>G p.X232_splice ENST00000225964 101 81 16 40 38 0 COL1A1,splice_donor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_donor_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,upstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000485870,; C ENSG00000108821 ENST00000225964 Transcript splice_donor_variant rs72645313,CS071188 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 9/50 HIGH 1 SNV 1 0,1 1 PASS TAC . . 50197730 COL1A1 . GRCh38 chr17 50198207 50198207 + Splice_Site SNP T T A novel 7316-2156 BS_H9813KRS T T c.544-2A>T p.X182_splice ENST00000225964 78 70 5 30 30 0 COL1A1,splice_acceptor_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,splice_acceptor_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,upstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000485870,;,regulatory_region_variant,,ENSR00000283691,; A ENSG00000108821 ENST00000225964 Transcript splice_acceptor_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 6/50 HIGH 1 SNV 1 1 PASS CTA . . 50198207 COL1A1 . GRCh38 chr17 50199330 50199330 + Splice_Region SNP G G T novel 7316-2156 BS_H9813KRS G G c.370-3C>A ENST00000225964 738 109 23 25 24 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,splice_region_variant,,ENST00000507689,;COL1A1,splice_region_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,upstream_gene_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000495677,;,regulatory_region_variant,,ENSR00000095625,; T ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 4/50 LOW 1 SNV 1 1 PASS TGC . . 50199330 XYLT2 . GRCh38 chr17 50354055 50354055 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.561T>G p.Asn187Lys p.N187K ENST00000017003 2/11 91 78 8 34 32 0 XYLT2,missense_variant,p.Asn187Lys,ENST00000017003,NM_022167.3;XYLT2,missense_variant,p.Asn187Lys,ENST00000507602,;XYLT2,downstream_gene_variant,,ENST00000509778,;XYLT2,upstream_gene_variant,,ENST00000574840,;XYLT2,missense_variant,p.Asn187Lys,ENST00000376550,;XYLT2,upstream_gene_variant,,ENST00000511654,;XYLT2,upstream_gene_variant,,ENST00000571021,; G ENSG00000015532 ENST00000017003 Transcript missense_variant 610/3507 561/2598 187/865 N/K aaT/aaG 1 1 XYLT2 HGNC HGNC:15517 protein_coding YES CCDS11563.1 ENSP00000017003 Q9H1B5 UPI000013C536 NM_022167.3 tolerated(0.19) benign(0.074) 2/11 hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF176 MODERATE 1 SNV 1 1 PASS ATG . . 50354055 PPM1E . GRCh38 chr17 58756192 58756192 + Missense_Mutation SNP A A C rs745942068 7316-2156 BS_H9813KRS A A c.195A>C p.Glu65Asp p.E65D ENST00000308249 1/7 103 73 21 27 27 0 PPM1E,missense_variant,p.Glu65Asp,ENST00000308249,NM_014906.4;,regulatory_region_variant,,ENSR00000096303,; C ENSG00000175175 ENST00000308249 Transcript missense_variant 324/6542 195/2268 65/755 E/D gaA/gaC rs745942068 1 1 PPM1E HGNC HGNC:19322 protein_coding YES CCDS11613.1 ENSP00000312411 Q8WY54 UPI000013ECF6 NM_014906.4 tolerated_low_confidence(0.2) benign(0) 1/7 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 6.396e-06 4.176e-05 58756192 NACA2 . GRCh38 chr17 61590538 61590538 + Missense_Mutation SNP C C T rs878942093 7316-2156 BS_H9813KRS C C c.643G>A p.Val215Met p.V215M ENST00000521764 1/1 117 101 6 33 33 0 NACA2,missense_variant,p.Val215Met,ENST00000521764,NM_199290.3; T ENSG00000253506 ENST00000521764 Transcript missense_variant 665/777 643/648 215/215 V/M Gtg/Atg rs878942093,COSM5621327 1 -1 NACA2 HGNC HGNC:23290 protein_coding YES CCDS11630.1 ENSP00000427802 Q9H009 UPI0000070B04 NM_199290.3 tolerated(1) benign(0) 1/1 hmmpanther:PTHR21713:SF2,hmmpanther:PTHR21713,PIRSF_domain:PIRSF015901 0,1 MODERATE 1 SNV 0,1 PASS ACT . . 61590538 NACA2 . GRCh38 chr17 61590924 61590924 + Missense_Mutation SNP A A C rs879180895 7316-2156 BS_H9813KRS A A c.257T>G p.Leu86Arg p.L86R ENST00000521764 1/1 113 91 18 43 43 0 NACA2,missense_variant,p.Leu86Arg,ENST00000521764,NM_199290.3; C ENSG00000253506 ENST00000521764 Transcript missense_variant 279/777 257/648 86/215 L/R cTa/cGa rs879180895,COSM6232284 1 -1 NACA2 HGNC HGNC:23290 protein_coding YES CCDS11630.1 ENSP00000427802 Q9H009 UPI0000070B04 NM_199290.3 tolerated(0.72) benign(0.001) 1/1 PROSITE_profiles:PS51151,hmmpanther:PTHR21713:SF2,hmmpanther:PTHR21713,Pfam_domain:PF01849,PIRSF_domain:PIRSF015901,SMART_domains:SM01407 0,1 MODERATE 1 SNV 0,1 PASS TAG . . 61590924 NACA2 . GRCh38 chr17 61590957 61590957 + Missense_Mutation SNP C C T rs781145461 7316-2156 BS_H9813KRS C C c.224G>A p.Arg75Lys p.R75K ENST00000521764 1/1 124 100 20 40 39 0 NACA2,missense_variant,p.Arg75Lys,ENST00000521764,NM_199290.3; T ENSG00000253506 ENST00000521764 Transcript missense_variant 246/777 224/648 75/215 R/K aGg/aAg rs781145461,COSM5621328 1 -1 NACA2 HGNC HGNC:23290 protein_coding YES CCDS11630.1 ENSP00000427802 Q9H009 UPI0000070B04 NM_199290.3 tolerated(1) benign(0) 1/1 PROSITE_profiles:PS51151,hmmpanther:PTHR21713:SF2,hmmpanther:PTHR21713,Pfam_domain:PF01849,PIRSF_domain:PIRSF015901,SMART_domains:SM01407 0,1 MODERATE 1 SNV 0,1 PASS CCT . . 61590957 NACA2 . GRCh38 chr17 61590988 61590988 + Missense_Mutation SNP C C T rs879107397 7316-2156 BS_H9813KRS C C c.193G>A p.Gly65Ser p.G65S ENST00000521764 1/1 115 94 16 44 43 0 NACA2,missense_variant,p.Gly65Ser,ENST00000521764,NM_199290.3; T ENSG00000253506 ENST00000521764 Transcript missense_variant 215/777 193/648 65/215 G/S Ggt/Agt rs879107397,COSM6293796 1 -1 NACA2 HGNC HGNC:23290 protein_coding YES CCDS11630.1 ENSP00000427802 Q9H009 UPI0000070B04 NM_199290.3 tolerated(1) benign(0) 1/1 hmmpanther:PTHR21713:SF2,hmmpanther:PTHR21713,PIRSF_domain:PIRSF015901 0,1 MODERATE 1 SNV 0,1 PASS CCG . . 4.061e-06 8.954e-06 61590988 MYO15B . GRCh38 chr17 75616376 75616376 + Missense_Mutation SNP A A C rs1174196082 7316-2156 BS_H9813KRS A A c.6075A>C p.Glu2025Asp p.E2025D ENST00000610510 38/63 84 58 18 27 26 0 MYO15B,missense_variant,p.Glu2025Asp,ENST00000610510,NM_001309242.1;MYO15B,missense_variant,p.Glu999Asp,ENST00000633867,;MYO15B,missense_variant,p.Glu561Asp,ENST00000642007,;MYO15B,upstream_gene_variant,,ENST00000578220,;MYO15B,upstream_gene_variant,,ENST00000583140,;MYO15B,downstream_gene_variant,,ENST00000578462,;MYO15B,3_prime_UTR_variant,,ENST00000584516,;MYO15B,3_prime_UTR_variant,,ENST00000584723,;MYO15B,non_coding_transcript_exon_variant,,ENST00000610429,;MYO15B,intron_variant,,ENST00000612587,;MYO15B,intron_variant,,ENST00000619501,;MYO15B,intron_variant,,ENST00000621743,;MYO15B,upstream_gene_variant,,ENST00000577296,;MYO15B,upstream_gene_variant,,ENST00000577342,;MYO15B,upstream_gene_variant,,ENST00000577613,;MYO15B,upstream_gene_variant,,ENST00000577785,;MYO15B,upstream_gene_variant,,ENST00000578005,;MYO15B,upstream_gene_variant,,ENST00000578300,;MYO15B,upstream_gene_variant,,ENST00000578960,;MYO15B,upstream_gene_variant,,ENST00000579048,;MYO15B,upstream_gene_variant,,ENST00000579052,;MYO15B,upstream_gene_variant,,ENST00000580096,;MYO15B,upstream_gene_variant,,ENST00000582597,; C ENSG00000266714 ENST00000610510 Transcript missense_variant 6075/9195 6075/9195 2025/3064 E/D gaA/gaC rs1174196082 1 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000488624 A0A0J9YY01 UPI00064546F0 NM_001309242.1 tolerated(0.14) probably_damaging(0.92) 38/63 Gene3D:3.40.50.300,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22692,hmmpanther:PTHR22692:SF16,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AAG . . 75616376 ACTG1 . GRCh38 chr17 81510926 81510926 + Splice_Site SNP C C T novel 7316-2156 BS_H9813KRS C C c.984+1G>A p.X328_splice ENST00000575842 121 111 8 31 30 0 ACTG1,splice_donor_variant,,ENST00000331925,NM_001614.3;ACTG1,splice_donor_variant,,ENST00000573283,;ACTG1,splice_donor_variant,,ENST00000575087,NM_001199954.1;ACTG1,splice_donor_variant,,ENST00000575842,;ACTG1,splice_donor_variant,,ENST00000615544,;ACTG1,splice_donor_variant,,ENST00000644774,;ACTG1,downstream_gene_variant,,ENST00000570382,;ACTG1,downstream_gene_variant,,ENST00000571691,;ACTG1,downstream_gene_variant,,ENST00000571721,;ACTG1,downstream_gene_variant,,ENST00000575659,;ACTG1,downstream_gene_variant,,ENST00000575994,;AC139149.1,upstream_gene_variant,,ENST00000430912,;ACTG1,splice_donor_variant,,ENST00000572105,;ACTG1,splice_donor_variant,,ENST00000574671,;ACTG1,splice_donor_variant,,ENST00000576209,;ACTG1,splice_donor_variant,,ENST00000576544,;ACTG1,splice_donor_variant,,ENST00000576917,;ACTG1,downstream_gene_variant,,ENST00000576214,;,regulatory_region_variant,,ENSR00000284713,; T ENSG00000184009 ENST00000575842 Transcript splice_donor_variant 1 -1 ACTG1 HGNC HGNC:144 protein_coding YES CCDS11782.1 ENSP00000458162 P63261 UPI0000000C38 4/4 HIGH 1 SNV 1 1 PASS ACC . . 81510926 FASN . GRCh38 chr17 82085159 82085159 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.4288-3T>G ENST00000306749 106 87 8 48 45 0 FASN,splice_region_variant,,ENST00000306749,NM_004104.4;FASN,splice_region_variant,,ENST00000634990,;FASN,non_coding_transcript_exon_variant,,ENST00000579410,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000580382,; C ENSG00000169710 ENST00000306749 Transcript splice_region_variant,intron_variant 1 -1 FASN HGNC HGNC:3594 protein_coding YES CCDS11801.1 ENSP00000304592 P49327 UPI000013EB82 NM_004104.4 24/42 LOW 1 SNV 1 1 PASS TAC . . 82085159 RAB40B . GRCh38 chr17 82658511 82658511 + Missense_Mutation SNP C C T rs1473854610 7316-2156 BS_H9813KRS C C c.545G>A p.Arg182Gln p.R182Q ENST00000571995 5/6 98 79 14 24 23 0 RAB40B,missense_variant,p.Arg182Gln,ENST00000571995,NM_006822.2;RAB40B,missense_variant,p.Arg3Gln,ENST00000269347,;RAB40B,missense_variant,p.Gly132Ser,ENST00000538809,;RAB40B,intron_variant,,ENST00000576148,;RAB40B,downstream_gene_variant,,ENST00000571554,;RAB40B,upstream_gene_variant,,ENST00000571880,;RAB40B,downstream_gene_variant,,ENST00000572603,;RAB40B,non_coding_transcript_exon_variant,,ENST00000576359,;RAB40B,non_coding_transcript_exon_variant,,ENST00000570676,;RAB40B,non_coding_transcript_exon_variant,,ENST00000574132,;RAB40B,non_coding_transcript_exon_variant,,ENST00000573395,; T ENSG00000141542 ENST00000571995 Transcript missense_variant 677/3859 545/837 182/278 R/Q cGg/cAg rs1473854610 1 -1 RAB40B HGNC HGNC:18284 protein_coding YES CCDS11816.1 ENSP00000461785 Q12829 UPI0000133001 NM_006822.2 deleterious(0.05) benign(0.208) 5/6 PROSITE_profiles:PS50225,PROSITE_profiles:PS51419,cd04121,hmmpanther:PTHR24073:SF344,hmmpanther:PTHR24073,SMART_domains:SM00176 MODERATE 1 SNV 1 PASS CCG . . 4.067e-06 3.249e-05 82658511 PTPRM . GRCh38 chr18 7567820 7567820 + Translation_Start_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.2T>G p.Met1? p.M1? ENST00000580170 1/33 108 92 12 42 41 0 PTPRM,start_lost,p.Met1?,ENST00000332175,NM_002845.3;PTPRM,start_lost,p.Met1?,ENST00000580170,NM_001105244.1;,regulatory_region_variant,,ENSR00000100289,; G ENSG00000173482 ENST00000580170 Transcript start_lost 1039/5941 2/4398 1/1465 M/R aTg/aGg 1 1 PTPRM HGNC HGNC:9675 protein_coding YES CCDS58613.1 ENSP00000463325 P28827 UPI00015CFC03 NM_001105244.1 deleterious_low_confidence(0) benign(0.009) 1/33 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 7567820 EEF2 . GRCh38 chr19 3977351 3977351 + Splice_Region SNP C C G novel 7316-2156 BS_H9813KRS C C c.2251-4G>C ENST00000309311 124 112 9 50 49 0 EEF2,splice_region_variant,,ENST00000309311,NM_001961.3;EEF2,intron_variant,,ENST00000600794,;EEF2,downstream_gene_variant,,ENST00000596417,;EEF2,downstream_gene_variant,,ENST00000598182,;EEF2,downstream_gene_variant,,ENST00000598436,; G ENSG00000167658 ENST00000309311 Transcript splice_region_variant,intron_variant 1 -1 EEF2 HGNC HGNC:3214 protein_coding YES CCDS12117.1 ENSP00000307940 P13639 UPI00001649F3 NM_001961.3 13/14 LOW 1 SNV 5 1 PASS GCC . . 3977351 C3 . GRCh38 chr19 6697648 6697648 + Splice_Region SNP C C T novel 7316-2156 BS_H9813KRS C C c.2583+4G>A ENST00000245907 128 92 8 33 30 0 C3,splice_region_variant,,ENST00000245907,NM_000064.3;C3,non_coding_transcript_exon_variant,,ENST00000594005,;C3,upstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000602053,; T ENSG00000125730 ENST00000245907 Transcript splice_region_variant,intron_variant 1 -1 C3 HGNC HGNC:1318 protein_coding YES CCDS32883.1 ENSP00000245907 P01024 V9HWA9 UPI000013EC9B NM_000064.3 20/40 LOW 1 SNV 1 1 PASS CCC . . 6697648 C3 . GRCh38 chr19 6713251 6713251 + Missense_Mutation SNP G G A rs1047286 7316-2156 BS_H9813KRS G G c.941C>T p.Pro314Leu p.P314L ENST00000245907 9/41 198 137 58 42 42 0 C3,missense_variant,p.Pro314Leu,ENST00000245907,NM_000064.3;C3,downstream_gene_variant,,ENST00000600744,;AC008760.2,downstream_gene_variant,,ENST00000614781,;C3,non_coding_transcript_exon_variant,,ENST00000597442,;C3,non_coding_transcript_exon_variant,,ENST00000594270,;C3,non_coding_transcript_exon_variant,,ENST00000595577,;C3,downstream_gene_variant,,ENST00000594936,;C3,upstream_gene_variant,,ENST00000600763,; A ENSG00000125730 ENST00000245907 Transcript missense_variant 1034/5263 941/4992 314/1663 P/L cCc/cTc rs1047286,CM099911,COSM6851234 1 -1 C3 HGNC HGNC:1318 protein_coding YES CCDS32883.1 ENSP00000245907 P01024 V9HWA9 UPI000013EC9B NM_000064.3 tolerated(0.13) benign(0.138) 9/41 PDB-ENSP_mappings:2a73.A,PDB-ENSP_mappings:2a74.A,PDB-ENSP_mappings:2a74.D,PDB-ENSP_mappings:2i07.A,PDB-ENSP_mappings:2ice.A,PDB-ENSP_mappings:2ice.D,PDB-ENSP_mappings:2icf.A,PDB-ENSP_mappings:2qki.A,PDB-ENSP_mappings:2qki.D,PDB-ENSP_mappings:2wii.A,PDB-ENSP_mappings:2win.A,PDB-ENSP_mappings:2win.C,PDB-ENSP_mappings:2win.E,PDB-ENSP_mappings:2win.G,PDB-ENSP_mappings:2xwb.A,PDB-ENSP_mappings:2xwb.C,PDB-ENSP_mappings:2xwj.A,PDB-ENSP_mappings:2xwj.C,PDB-ENSP_mappings:2xwj.E,PDB-ENSP_mappings:2xwj.G,PDB-ENSP_mappings:3g6j.A,PDB-ENSP_mappings:3g6j.C,PDB-ENSP_mappings:3l3o.A,PDB-ENSP_mappings:3l3o.D,PDB-ENSP_mappings:3l5n.A,PDB-ENSP_mappings:3nms.A,PDB-ENSP_mappings:3ohx.A,PDB-ENSP_mappings:3ohx.D,PDB-ENSP_mappings:3t4a.A,PDB-ENSP_mappings:3t4a.D,PDB-ENSP_mappings:5fo7.A,PDB-ENSP_mappings:5fo8.A,PDB-ENSP_mappings:5fo9.A,PDB-ENSP_mappings:5fo9.D,PDB-ENSP_mappings:5foa.A,PDB-ENSP_mappings:5foa.C,PDB-ENSP_mappings:5fob.A,PDB-ENSP_mappings:5m6w.A,PDB-ENSP_mappings:5m6w.G,PDB-ENSP_mappings:5o32.A,PDB-ENSP_mappings:5o32.E,PDB-ENSP_mappings:5o35.A,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81 0.0699 0.0091 0.0865 0.003 0.2048 0.0706 0.04017 0.2047 benign 0,0,1 24860613,20664795,21045241,27239555,21197116,22324898,19828715,25883802,27257685,24453474,26269006,20157618,19399715,22273503,27258093,21784901,20090210,1976733,17634448,18325906,19168221,19234341,19850835,23068452,24736606,25688879,26305563,23487758,20212207,22591901,25213188,27156982 MODERATE 1 SNV 1 1,1,1 1 PASS GGG . . 0.1423 0.03284 0.07467 0.2117 0.0006379 0.1686 0.2 0.1496 0.09892 6713251 C3 . GRCh38 chr19 6714351 6714351 + Splice_Site SNP C C G novel 7316-2156 BS_H9813KRS C C c.599+1G>C p.X200_splice ENST00000245907 98 91 7 27 27 0 C3,splice_donor_variant,,ENST00000245907,NM_000064.3;C3,downstream_gene_variant,,ENST00000600744,;AC008760.2,downstream_gene_variant,,ENST00000614781,;C3,upstream_gene_variant,,ENST00000594270,;C3,upstream_gene_variant,,ENST00000597442,;C3,non_coding_transcript_exon_variant,,ENST00000595577,;C3,downstream_gene_variant,,ENST00000594936,;C3,upstream_gene_variant,,ENST00000600763,; G ENSG00000125730 ENST00000245907 Transcript splice_donor_variant 1 -1 C3 HGNC HGNC:1318 protein_coding YES CCDS32883.1 ENSP00000245907 P01024 V9HWA9 UPI000013EC9B NM_000064.3 5/40 HIGH 1 SNV 1 1 PASS ACT . . 6714351 C3 . GRCh38 chr19 6718376 6718376 + Missense_Mutation SNP G G C rs2230199 7316-2156 BS_H9813KRS G G c.304C>G p.Arg102Gly p.R102G ENST00000245907 3/41 172 154 14 42 42 0 C3,missense_variant,p.Arg102Gly,ENST00000245907,NM_000064.3;C3,missense_variant,p.Arg61Gly,ENST00000600744,;AC008760.2,upstream_gene_variant,,ENST00000614781,;C3,upstream_gene_variant,,ENST00000597442,;C3,non_coding_transcript_exon_variant,,ENST00000594936,;C3,upstream_gene_variant,,ENST00000595577,;,regulatory_region_variant,,ENSR00000106574,; C ENSG00000125730 ENST00000245907 Transcript missense_variant 397/5263 304/4992 102/1663 R/G Cgc/Ggc rs2230199,CM940211,COSM3757395 1 -1 C3 HGNC HGNC:1318 protein_coding YES CCDS32883.1 ENSP00000245907 P01024 V9HWA9 UPI000013EC9B NM_000064.3 tolerated(0.32) benign(0) 3/41 PDB-ENSP_mappings:2a73.A,PDB-ENSP_mappings:2a74.A,PDB-ENSP_mappings:2a74.D,PDB-ENSP_mappings:2i07.A,PDB-ENSP_mappings:2ice.A,PDB-ENSP_mappings:2ice.D,PDB-ENSP_mappings:2icf.A,PDB-ENSP_mappings:2qki.A,PDB-ENSP_mappings:2qki.D,PDB-ENSP_mappings:2wii.A,PDB-ENSP_mappings:2win.A,PDB-ENSP_mappings:2win.C,PDB-ENSP_mappings:2win.E,PDB-ENSP_mappings:2win.G,PDB-ENSP_mappings:2xwb.A,PDB-ENSP_mappings:2xwb.C,PDB-ENSP_mappings:2xwj.A,PDB-ENSP_mappings:2xwj.C,PDB-ENSP_mappings:2xwj.E,PDB-ENSP_mappings:2xwj.G,PDB-ENSP_mappings:3g6j.A,PDB-ENSP_mappings:3g6j.C,PDB-ENSP_mappings:3l3o.A,PDB-ENSP_mappings:3l3o.D,PDB-ENSP_mappings:3l5n.A,PDB-ENSP_mappings:3nms.A,PDB-ENSP_mappings:3ohx.A,PDB-ENSP_mappings:3ohx.D,PDB-ENSP_mappings:3t4a.A,PDB-ENSP_mappings:3t4a.D,PDB-ENSP_mappings:5fo7.A,PDB-ENSP_mappings:5fo8.A,PDB-ENSP_mappings:5fo9.A,PDB-ENSP_mappings:5fo9.D,PDB-ENSP_mappings:5foa.A,PDB-ENSP_mappings:5foa.C,PDB-ENSP_mappings:5fob.A,PDB-ENSP_mappings:5m6w.A,PDB-ENSP_mappings:5m6w.G,PDB-ENSP_mappings:5o32.A,PDB-ENSP_mappings:5o32.E,PDB-ENSP_mappings:5o35.A,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81 0.0873 0.0333 0.0965 0.003 0.2207 0.1033 0.04812 0.2094 benign,risk_factor 0,0,1 24120328,19131662,19263529,21407270,21424820,15726497,19330901,19559392,21992066,21609220,26691988,25478207,26154559,24860613,19169411,20664795,25558172,23209669,20385819,22957248,23326517,20381870,21045241,21906714,22247473,22666427,22678500,22694956,22933840,23713713,24675670,27239555,20385826,22174912,27306948,21197116,21394116,23919682,25388911,20022638,21493888,21871809,22324898,24289920,19381347,22705344,19828715,19899988,19259132,21122828,25883802,19043567,24498017,25132797,23455636,27257685,20862287,24453474,25276841,21807600,23523162,26269006,19825847,26493033,20157618,20861866,25893111,27832277,24036949,24369445,26255974,19399715,20157352,22273503,19117936,19661236,20888482,21139980,21402993,21447678,21455292,21555552,21620475,21665990,21797996,21959373,23112567,23481534,27241480,27258093,24652518,27116510,19823576,21784901,23233260,24403817,21762495,24287500,1976733,17634448,19168221,19234341,19850835,23068452,24736606,25688879,26305563,27374485,19202148,19797206,22699975,23337555,23562679,23706946 MODERATE 1 SNV 1 1,1,1 1 PASS CGC . . 0.1515 0.04273 0.08248 0.2064 0.0007537 0.1779 0.2065 0.1593 0.1275 6718376 SAMD1 . GRCh38 chr19 14090369 14090369 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.52A>C p.Thr18Pro p.T18P ENST00000533683 1/5 45 30 9 23 22 1 SAMD1,missense_variant,p.Thr18Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 340/2164 52/1299 18/432 T/P Acg/Ccg 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.063) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090369 MAST3 . GRCh38 chr19 18144549 18144549 + Missense_Mutation SNP G G A rs8108738 7316-2156 BS_H9813KRS G G c.2581G>A p.Gly861Ser p.G861S ENST00000262811 22/27 127 120 6 29 29 0 MAST3,missense_variant,p.Gly861Ser,ENST00000262811,NM_015016.1;AC007192.2,non_coding_transcript_exon_variant,,ENST00000600364,;MAST3,upstream_gene_variant,,ENST00000609076,;MAST3,downstream_gene_variant,,ENST00000609494,; A ENSG00000099308 ENST00000262811 Transcript missense_variant 2581/5896 2581/3930 861/1309 G/S Ggc/Agc rs8108738,COSM3756492,COSM3756491 1 1 MAST3 HGNC HGNC:19036 protein_coding YES CCDS46014.1 ENSP00000262811 O60307 UPI00001D8275 NM_015016.1 tolerated_low_confidence(0.33) benign(0.001) 22/27 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24356:SF140,hmmpanther:PTHR24356,Gene3D:2.30.42.10 0.5321 0.3215 0.5245 0.6806 0.502 0.7004 0.3415 0.5214 0,1,1 18650832 MODERATE 1 SNV 1 0,1,1 PASS CGG . . 0.5347 0.3407 0.5158 0.4476 0.6926 0.5042 0.5252 0.5192 0.6445 18144549 MAST3 . GRCh38 chr19 18147579 18147579 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.3349A>C p.Ser1117Arg p.S1117R ENST00000262811 26/27 106 81 10 32 32 0 MAST3,missense_variant,p.Ser1117Arg,ENST00000262811,NM_015016.1;AC007192.2,intron_variant,,ENST00000600364,;MAST3,downstream_gene_variant,,ENST00000609076,;MAST3,downstream_gene_variant,,ENST00000609494,; C ENSG00000099308 ENST00000262811 Transcript missense_variant 3349/5896 3349/3930 1117/1309 S/R Agc/Cgc 1 1 MAST3 HGNC HGNC:19036 protein_coding YES CCDS46014.1 ENSP00000262811 O60307 UPI00001D8275 NM_015016.1 tolerated(0.28) benign(0.003) 26/27 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24356:SF140,hmmpanther:PTHR24356 MODERATE 1 SNV 1 PASS CAG . . 18147579 FKBP8 . GRCh38 chr19 18541711 18541711 + Missense_Mutation SNP G G A rs11574806 7316-2156 BS_H9813KRS G G c.260C>T p.Ala87Val p.A87V ENST00000608443 2/9 133 122 6 36 33 0 FKBP8,missense_variant,p.Ala87Val,ENST00000608443,;FKBP8,missense_variant,p.Ala87Val,ENST00000597960,NM_012181.4;FKBP8,missense_variant,p.Ala87Val,ENST00000596558,;FKBP8,missense_variant,p.Ala87Val,ENST00000222308,NM_001308373.1;FKBP8,missense_variant,p.Ala87Val,ENST00000544835,;FKBP8,missense_variant,p.Ala87Val,ENST00000599540,;FKBP8,missense_variant,p.Ala87Val,ENST00000597611,;FKBP8,missense_variant,p.Ala87Val,ENST00000594844,;FKBP8,missense_variant,p.Ala87Val,ENST00000597547,;FKBP8,upstream_gene_variant,,ENST00000596015,;FKBP8,upstream_gene_variant,,ENST00000606531,;FKBP8,downstream_gene_variant,,ENST00000609656,;FKBP8,missense_variant,p.Ala87Val,ENST00000601844,;FKBP8,upstream_gene_variant,,ENST00000596494,;,regulatory_region_variant,,ENSR00000108102,; A ENSG00000105701 ENST00000608443 Transcript missense_variant 460/1849 260/1242 87/413 A/V gCc/gTc rs11574806 1 -1 FKBP8 HGNC HGNC:3724 protein_coding YES CCDS32961.1 ENSP00000476767 Q14318 UPI000020376E tolerated(0.1) benign(0.012) 2/9 Low_complexity_(Seg):seg,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF271,Gene3D:3.10.50.40 0.0982 0.3495 0.0317 0.008 0.2854 0.007334 MODERATE 1 SNV 1 PASS GGC . . 0.02737 0.3138 0.01774 0.01518 0.006245 0.008295 0.01641 0.000848 18541711 COPE . GRCh38 chr19 18907053 18907053 + Missense_Mutation SNP G G A rs10330 7316-2156 BS_H9813KRS G G c.350C>T p.Thr117Ile p.T117I ENST00000600932 4/11 117 110 6 42 41 0 COPE,missense_variant,p.Thr117Ile,ENST00000600932,NM_001330469.1;COPE,missense_variant,p.Thr117Ile,ENST00000262812,NM_007263.3;COPE,missense_variant,p.Thr117Ile,ENST00000349893,NM_199444.1;COPE,intron_variant,,ENST00000351079,NM_199442.1;COPE,intron_variant,,ENST00000598969,;COPE,upstream_gene_variant,,ENST00000595984,;COPE,downstream_gene_variant,,ENST00000597646,;COPE,downstream_gene_variant,,ENST00000599964,;AC002985.1,3_prime_UTR_variant,,ENST00000596918,;AC002985.1,3_prime_UTR_variant,,ENST00000593484,;COPE,non_coding_transcript_exon_variant,,ENST00000597026,;COPE,intron_variant,,ENST00000593827,; A ENSG00000105669 ENST00000600932 Transcript missense_variant 382/1144 350/996 117/331 T/I aCc/aTc rs10330 1 -1 COPE HGNC HGNC:2234 protein_coding YES CCDS82321.1 ENSP00000469035 M0QXB4 UPI0000D4C920 NM_001330469.1 tolerated(0.23) benign(0.02) 4/11 Gene3D:1.25.40.10,Pfam_domain:PF04733,PIRSF_domain:PIRSF016478,hmmpanther:PTHR10805,hmmpanther:PTHR10805:SF0 0.2079 0.413 0.1239 0.0754 0.1332 0.2035 0.3576 0.1168 MODERATE 1 SNV 5 PASS GGT . . 0.1312 0.3621 0.1109 0.1071 0.06411 0.06578 0.118 0.1239 0.1847 18907053 ZNF714 . GRCh38 chr19 21117429 21117429 + Missense_Mutation SNP G G T novel 7316-2156 BS_H9813KRS G G c.765G>T p.Lys255Asn p.K255N ENST00000456283 5/5 89 74 8 57 57 0 ZNF714,missense_variant,p.Lys255Asn,ENST00000456283,NM_182515.3;ZNF714,3_prime_UTR_variant,,ENST00000425625,;ZNF714,3_prime_UTR_variant,,ENST00000620627,;ZNF714,intron_variant,,ENST00000596053,;ZNF714,downstream_gene_variant,,ENST00000616183,;ZNF714,downstream_gene_variant,,ENST00000618008,;ZNF714,downstream_gene_variant,,ENST00000618422,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,missense_variant,p.Lys255Asn,ENST00000610902,;ZNF714,3_prime_UTR_variant,,ENST00000613286,;,regulatory_region_variant,,ENSR00000108327,; T ENSG00000160352 ENST00000456283 Transcript missense_variant 1090/6812 765/1668 255/555 K/N aaG/aaT 1 1 ZNF714 HGNC HGNC:27124 protein_coding YES CCDS54239.1 ENSP00000478345 A0A087WU35 UPI0001278283 NM_182515.3 deleterious(0.02) probably_damaging(0.999) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF104,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS AGC . . 21117429 EID2 . GRCh38 chr19 39540030 39540030 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.50A>C p.Asn17Thr p.N17T ENST00000390658 1/1 136 116 14 38 38 0 EID2,missense_variant,p.Asn17Thr,ENST00000390658,NM_153232.3;,regulatory_region_variant,,ENSR00000109440,; G ENSG00000176396 ENST00000390658 Transcript missense_variant 304/1629 50/711 17/236 N/T aAt/aCt 1 -1 EID2 HGNC HGNC:28292 protein_coding YES CCDS12540.2 ENSP00000375073 Q8N6I1 UPI00001E052F NM_153232.3 deleterious(0.03) benign(0.01) 1/1 hmmpanther:PTHR15556,hmmpanther:PTHR15556:SF3,mobidb-lite MODERATE 1 SNV PASS ATT . . 39540030 MEGF8 . GRCh38 chr19 42353663 42353663 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.3749A>C p.Tyr1250Ser p.Y1250S ENST00000251268 21/42 94 79 9 43 42 0 MEGF8,missense_variant,p.Tyr1183Ser,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Tyr1250Ser,ENST00000251268,NM_001271938.1;MEGF8,5_prime_UTR_variant,,ENST00000378073,;MIR8077,downstream_gene_variant,,ENST00000618566,;MEGF8,non_coding_transcript_exon_variant,,ENST00000593840,; C ENSG00000105429 ENST00000251268 Transcript missense_variant 3749/9549 3749/8538 1250/2845 Y/S tAt/tCt 1 1 MEGF8 HGNC HGNC:3233 protein_coding YES CCDS62693.1 ENSP00000251268 Q7Z7M0 UPI00005788D1 NM_001271938.1 deleterious(0.02) probably_damaging(0.999) 21/42 Gene3D:2.60.120.290,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196,cd00055 MODERATE 1 SNV 5 1 PASS TAT . . 42353663 LIPE . GRCh38 chr19 42407363 42407363 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1948T>G p.Phe650Val p.F650V ENST00000244289 6/10 108 85 15 26 25 0 LIPE,missense_variant,p.Phe650Val,ENST00000244289,NM_005357.3;LIPE,downstream_gene_variant,,ENST00000597001,;LIPE,upstream_gene_variant,,ENST00000597620,;LIPE,downstream_gene_variant,,ENST00000599211,;LIPE,downstream_gene_variant,,ENST00000599783,;LIPE,upstream_gene_variant,,ENST00000599918,;LIPE,downstream_gene_variant,,ENST00000601189,;LIPE-AS1,intron_variant,,ENST00000593491,;LIPE-AS1,intron_variant,,ENST00000594624,;LIPE-AS1,intron_variant,,ENST00000597203,;LIPE-AS1,intron_variant,,ENST00000599276,;LIPE,downstream_gene_variant,,ENST00000602000,;LIPE,upstream_gene_variant,,ENST00000600224,; C ENSG00000079435 ENST00000244289 Transcript missense_variant 2225/3813 1948/3231 650/1076 F/V Ttc/Gtc 1 -1 LIPE HGNC HGNC:6621 protein_coding YES CCDS12607.1 ENSP00000244289 Q05469 UPI000013CB66 NM_005357.3 tolerated(0.08) benign(0.037) 6/10 Gene3D:3.40.50.1820,Pfam_domain:PF07859,PROSITE_patterns:PS01173,hmmpanther:PTHR23025,hmmpanther:PTHR23025:SF1,Superfamily_domains:SSF53474 MODERATE 1 SNV 1 1 PASS AAG . . 42407363 APOE . GRCh38 chr19 44907756 44907756 + Splice_Region SNP A A G novel 7316-2156 BS_H9813KRS A A c.44-4A>G ENST00000252486 176 107 7 24 24 0 APOE,splice_region_variant,,ENST00000252486,NM_001302690.1,NM_001302689.1,NM_000041.3,NM_001302691.1;APOE,splice_region_variant,,ENST00000425718,;APOE,splice_region_variant,,ENST00000434152,NM_001302688.1;APOE,splice_region_variant,,ENST00000446996,;TOMM40,downstream_gene_variant,,ENST00000252487,NM_006114.2;TOMM40,downstream_gene_variant,,ENST00000405636,NM_001128916.1;TOMM40,downstream_gene_variant,,ENST00000426677,NM_001128917.1;TOMM40,downstream_gene_variant,,ENST00000592434,;AC011481.3,upstream_gene_variant,,ENST00000623895,;APOE,downstream_gene_variant,,ENST00000485628,;TOMM40,downstream_gene_variant,,ENST00000592041,; G ENSG00000130203 ENST00000252486 Transcript splice_region_variant,intron_variant 1 1 APOE HGNC HGNC:613 protein_coding YES CCDS12647.1 ENSP00000252486 P02649 A0A0S2Z3D5 UPI0000044948 NM_001302690.1,NM_001302689.1,NM_000041.3,NM_001302691.1 2/3 LOW 1 SNV 1 1 PASS CAC . . 44907756 PRKD2 . GRCh38 chr19 46716370 46716370 + Translation_Start_Site SNP T T G rs1217529762 7316-2156 BS_H9813KRS T T c.1A>C p.Met1? p.M1? ENST00000433867 2/19 77 57 8 29 28 0 PRKD2,start_lost,p.Met1?,ENST00000433867,NM_001079880.1,NM_001079881.1,NM_016457.4;PRKD2,start_lost,p.Met1?,ENST00000291281,;PRKD2,start_lost,p.Met1?,ENST00000595515,;PRKD2,start_lost,p.Met1?,ENST00000593363,;PRKD2,intron_variant,,ENST00000598633,;PRKD2,intron_variant,,ENST00000601806,;STRN4,downstream_gene_variant,,ENST00000263280,NM_013403.2;STRN4,downstream_gene_variant,,ENST00000391910,NM_001039877.1;STRN4,downstream_gene_variant,,ENST00000539396,;PRKD2,upstream_gene_variant,,ENST00000595132,;PRKD2,upstream_gene_variant,,ENST00000600194,NM_001079882.1;STRN4,downstream_gene_variant,,ENST00000600615,;PRKD2,upstream_gene_variant,,ENST00000601605,;STRN4,downstream_gene_variant,,ENST00000594581,;STRN4,downstream_gene_variant,,ENST00000595357,;PRKD2,upstream_gene_variant,,ENST00000597088,;PRKD2,upstream_gene_variant,,ENST00000597641,;STRN4,downstream_gene_variant,,ENST00000601869,;,regulatory_region_variant,,ENSR00000110412,; G ENSG00000105287 ENST00000433867 Transcript start_lost 479/3321 1/2637 1/878 M/L Atg/Ctg rs1217529762,COSM6380716 1 -1 PRKD2 HGNC HGNC:17293 protein_coding YES CCDS12689.1 ENSP00000393978 Q9BZL6 UPI0000049BFA NM_001079880.1,NM_001079881.1,NM_016457.4 deleterious_low_confidence(0) benign(0.006) 2/19 PIRSF_domain:PIRSF000552,mobidb-lite 0,1 HIGH 1 SNV 5 0,1 PASS ATG . . 46716370 LMTK3 . GRCh38 chr19 48498489 48498489 + Missense_Mutation SNP T T G rs1376155320 7316-2156 BS_H9813KRS T T c.2667A>C p.Glu889Asp p.E889D ENST00000270238 12/16 71 48 12 24 23 0 LMTK3,missense_variant,p.Glu860Asp,ENST00000600059,;LMTK3,missense_variant,p.Glu889Asp,ENST00000270238,NM_001080434.1; G ENSG00000142235 ENST00000270238 Transcript missense_variant 2667/4972 2667/4470 889/1489 E/D gaA/gaC rs1376155320 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.031) 12/16 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS GTT . . 4.59e-06 6.38e-05 48498489 LMTK3 . GRCh38 chr19 48499330 48499330 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1826T>G p.Val609Gly p.V609G ENST00000270238 12/16 81 54 11 37 31 0 LMTK3,missense_variant,p.Val580Gly,ENST00000600059,;LMTK3,missense_variant,p.Val609Gly,ENST00000270238,NM_001080434.1; C ENSG00000142235 ENST00000270238 Transcript missense_variant 1826/4972 1826/4470 609/1489 V/G gTg/gGg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) possibly_damaging(0.451) 12/16 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48499330 FTL . GRCh38 chr19 48965611 48965611 + Splice_Site SNP T T G rs879022011 7316-2156 BS_H9813KRS T T c.102+2T>G p.X34_splice ENST00000331825 143 113 24 29 29 0 FTL,splice_donor_variant,,ENST00000331825,NM_000146.3;GYS1,downstream_gene_variant,,ENST00000263276,NM_001161587.1;BAX,downstream_gene_variant,,ENST00000293288,NM_004324.3;GYS1,downstream_gene_variant,,ENST00000323798,NM_002103.4;BAX,downstream_gene_variant,,ENST00000345358,NM_001291428.1,NM_138761.3;BAX,downstream_gene_variant,,ENST00000354470,NM_138763.3;BAX,downstream_gene_variant,,ENST00000391871,;BAX,downstream_gene_variant,,ENST00000415969,NM_138764.4;BAX,downstream_gene_variant,,ENST00000506183,NM_001291431.1;BAX,downstream_gene_variant,,ENST00000539787,NM_001291429.1,NM_001291430.1;GYS1,downstream_gene_variant,,ENST00000594220,;AC026803.2,downstream_gene_variant,,ENST00000594305,;AC026803.2,downstream_gene_variant,,ENST00000599784,;BAX,downstream_gene_variant,,ENST00000356483,;BAX,downstream_gene_variant,,ENST00000502487,;BAX,downstream_gene_variant,,ENST00000503726,;BAX,downstream_gene_variant,,ENST00000513217,;BAX,downstream_gene_variant,,ENST00000513545,;,regulatory_region_variant,,ENSR00000110810,; G ENSG00000087086 ENST00000331825 Transcript splice_donor_variant rs879022011 1 1 FTL HGNC HGNC:3999 protein_coding YES CCDS33070.1 ENSP00000366525 P02792 UPI0000161F61 NM_000146.3 1/3 HIGH 1 SNV 1 1 PASS GTG . . 48965611 ZNF845 . GRCh38 chr19 53353512 53353512 + Missense_Mutation SNP A A G rs1488087463 7316-2156 BS_H9813KRS A A c.2837A>G p.Asn946Ser p.N946S ENST00000458035 4/4 98 83 5 49 48 0 ZNF845,missense_variant,p.Asn946Ser,ENST00000458035,NM_138374.2;ZNF845,missense_variant,p.Asn946Ser,ENST00000595091,NM_001321524.1,NM_001321523.1,NM_001321522.1; G ENSG00000213799 ENST00000458035 Transcript missense_variant 2957/6351 2837/2913 946/970 N/S aAt/aGt rs1488087463 1 1 ZNF845 HGNC HGNC:25112 protein_coding YES CCDS46170.1 ENSP00000388311 Q96IR2 UPI0001662BAC NM_138374.2 tolerated(0.26) possibly_damaging(0.788) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS AAT . . 4.086e-06 9.03e-06 53353512 KIR2DL1 . GRCh38 chr19 54778656 54778656 + Missense_Mutation SNP A A G rs75232650 7316-2156 BS_H9813KRS A A c.709A>G p.Lys237Glu p.K237E ENST00000336077 5/8 118 97 14 33 33 0 KIR2DL1,missense_variant,p.Lys237Glu,ENST00000336077,NM_014218.2;KIR2DL1,missense_variant,p.Lys237Glu,ENST00000291633,;AC245128.1,intron_variant,,ENST00000400864,; G ENSG00000125498 ENST00000336077 Transcript missense_variant 749/1596 709/1047 237/348 K/E Aaa/Gaa rs75232650,COSM4132538 1 1 KIR2DL1 HGNC HGNC:6329 protein_coding YES CCDS12904.1 ENSP00000336769 Q6H2H3 UPI00001195F7 NM_014218.2 tolerated(0.17) benign(0.01) 5/8 mobidb-lite,hmmpanther:PTHR11738:SF124,hmmpanther:PTHR11738 0.0002 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS CAA . . 9.533e-05 6.45e-05 0.0007103 4.845e-05 2.992e-05 0.00012 54778656 RPL28 . GRCh38 chr19 55387928 55387928 + Splice_Site SNP A A C rs112744759 7316-2156 BS_H9813KRS A A c.206-2A>C p.X69_splice ENST00000558815 132 122 8 35 35 0 RPL28,splice_acceptor_variant,,ENST00000344063,NM_000991.4;RPL28,splice_acceptor_variant,,ENST00000558131,;RPL28,splice_acceptor_variant,,ENST00000558815,NM_001136135.1;RPL28,splice_acceptor_variant,,ENST00000559463,;RPL28,splice_acceptor_variant,,ENST00000560055,;RPL28,splice_acceptor_variant,,ENST00000560583,NM_001136134.1;RPL28,downstream_gene_variant,,ENST00000428193,NM_001136137.1;RPL28,downstream_gene_variant,,ENST00000431533,NM_001136136.1;TMEM238,upstream_gene_variant,,ENST00000444469,NM_001190764.1;RPL28,downstream_gene_variant,,ENST00000558752,;MIR6805,upstream_gene_variant,,ENST00000615055,;RPL28,non_coding_transcript_exon_variant,,ENST00000426763,;RPL28,non_coding_transcript_exon_variant,,ENST00000560881,; C ENSG00000108107 ENST00000558815 Transcript splice_acceptor_variant rs112744759 1 1 RPL28 HGNC HGNC:10330 protein_coding YES CCDS46189.1 ENSP00000452909 P46779 UPI0001824648 NM_001136135.1 3/4 HIGH SNV 2 PASS CAG . . 55387928 ZNF776 . GRCh38 chr19 57754560 57754560 + Missense_Mutation SNP G G T rs773147023 7316-2156 BS_H9813KRS G G c.1430G>T p.Arg477Leu p.R477L ENST00000317178 3/3 107 87 13 46 45 0 ZNF776,missense_variant,p.Arg477Leu,ENST00000317178,NM_173632.3;ZNF776,intron_variant,,ENST00000451849,;ZNF776,downstream_gene_variant,,ENST00000431353,;AC003006.1,downstream_gene_variant,,ENST00000594684,;ZNF776,non_coding_transcript_exon_variant,,ENST00000489376,;ZNF776,downstream_gene_variant,,ENST00000473585,; T ENSG00000152443 ENST00000317178 Transcript missense_variant 1693/5292 1430/1557 477/518 R/L cGa/cTa rs773147023,COSM193794,COSM1305209 1 1 ZNF776 HGNC HGNC:26765 protein_coding YES CCDS12962.2 ENSP00000321812 Q68DI1 UPI000022AA12 NM_173632.3 tolerated(0.3) benign(0.191) 3/3 Gene3D:2.20.28.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF725,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGA . . 57754560 TRIB3 . GRCh38 chr20 388261 388261 + Missense_Mutation SNP A A G rs2295490 7316-2156 BS_H9813KRS A A c.332A>G p.Gln111Arg p.Q111R ENST00000422053 3/5 136 127 6 45 44 1 TRIB3,missense_variant,p.Gln84Arg,ENST00000217233,NM_001301193.1,NM_001301190.1,NM_001301188.1,NM_001301196.1,NM_021158.4;TRIB3,missense_variant,p.Gln111Arg,ENST00000422053,NM_001301201.1;TRIB3,missense_variant,p.Gln84Arg,ENST00000449710,;TRIB3,missense_variant,p.Gln84Arg,ENST00000615226,; G ENSG00000101255 ENST00000422053 Transcript missense_variant 649/1533 332/1158 111/385 Q/R cAg/cGg rs2295490,CM052928,COSM3723968 1 1 TRIB3 HGNC HGNC:16228 protein_coding YES CCDS77554.1 ENSP00000415416 J3KR25 UPI0001AE6542 NM_001301201.1 tolerated(1) benign(0) 3/5 Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF14,SMART_domains:SM00220,Superfamily_domains:SSF56112,cd14024 0.1991 0.1641 0.0836 0.1865 0.1441 0.3978 0.1602 0.1552 0,0,1 23107043,23633196,18984671,19139803,20393693,25447894,26253791,25463099,23762820,27793583,22577090,29190990,29025897,29382897 MODERATE 1 SNV 2 0,1,1 PASS CAG . . 0.1785 0.1622 0.07765 0.222 0.1923 0.182 0.1484 0.1634 0.3829 388261 EBF4 . GRCh38 chr20 2752228 2752228 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.1304T>G p.Ile435Ser p.I435S ENST00000380648 14/18 103 90 8 42 40 0 EBF4,missense_variant,p.Ile435Ser,ENST00000380648,NM_001110514.1;EBF4,missense_variant,p.Ile458Ser,ENST00000342725,;EBF4,missense_variant,p.Ile439Ser,ENST00000609451,;EBF4,intron_variant,,ENST00000463145,;EBF4,non_coding_transcript_exon_variant,,ENST00000491472,;EBF4,downstream_gene_variant,,ENST00000469215,;EBF4,upstream_gene_variant,,ENST00000477287,;EBF4,upstream_gene_variant,,ENST00000481662,;EBF4,missense_variant,p.Ile435Ser,ENST00000449079,;EBF4,non_coding_transcript_exon_variant,,ENST00000609967,;,regulatory_region_variant,,ENSR00000133694,; G ENSG00000088881 ENST00000380648 Transcript missense_variant 1572/2910 1304/1797 435/598 I/S aTc/aGc 1 1 EBF4 HGNC HGNC:29278 protein_coding YES CCDS46573.1 ENSP00000370022 E9PEI2 UPI00001C2038 NM_001110514.1 deleterious_low_confidence(0.05) benign(0.322) 14/18 hmmpanther:PTHR10747:SF36,hmmpanther:PTHR10747 MODERATE 1 SNV 5 PASS ATC . . 2752228 PRNP . GRCh38 chr20 4699605 4699605 + Missense_Mutation SNP A A G rs1799990 7316-2156 BS_H9813KRS A A c.385A>G p.Met129Val p.M129V ENST00000379440 2/2 127 116 8 39 37 0 PRNP,missense_variant,p.Met129Val,ENST00000379440,NM_001080123.1,NM_001271561.1,NM_000311.3,NM_001080121.1,NM_001080122.1,NM_183079.2;PRNP,missense_variant,p.Met129Val,ENST00000430350,;PRNP,missense_variant,p.Met129Val,ENST00000457586,;PRNP,missense_variant,p.Met129Val,ENST00000424424,; G ENSG00000171867 ENST00000379440 Transcript missense_variant 672/2657 385/762 129/253 M/V Atg/Gtg rs1799990,CM890104,COSM42856 1 1 PRNP HGNC HGNC:9449 protein_coding YES CCDS13080.1 ENSP00000368752 P04156 Q53YK7 UPI0000033C27 NM_001080123.1,NM_001271561.1,NM_000311.3,NM_001080121.1,NM_001080122.1,NM_183079.2 tolerated(0.1) benign(0.028) 2/2 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10502:SF134,hmmpanther:PTHR10502,Gene3D:1.10.790.10,SMART_domains:SM00157,Superfamily_domains:SSF54098,Prints_domain:PR00341 0.2666 0.3525 0.4063 0.0248 0.325 0.2403 0.3414 0.3359 benign,likely_benign,risk_factor 0,0,1 18779388,19474294,18813964,18830724,21537449,23820649,21302343,27716216,20574532,21799773,22210626,25897833,16023289,19081515,27600024,1353341,1353342,1353344,1439789,1469441,1671440,1671983,1675319,1677164,1682813,1684756,1971924,2378641,2783132,3014653,7709737,7845623,7908444,8137139,9643750,9748018,9751723,9789072,10581230,10953203,11488277,11506406,11506411,11749972,11840201,12205650,12601712,12690204,12867116,12891686,14520676,14970845,15277640,15539564,15987701,16217673,16227536,16315279,16565881,16969862,17202849,18955686,19038218,19923577,20301407,23399523,25104557,25918841,24028506,27217717,27793473,25765185,26462233,21426368,21479240,19501718,16009550,25812849,24760020,22952813 MODERATE 1 SNV 1 1,1,1 1 PASS CAT . . 0.3097 0.3391 0.4128 0.2736 0.02441 0.2992 0.3388 0.3201 0.2542 4699605 RRBP1 . GRCh38 chr20 17627502 17627502 + Splice_Site SNP A A G rs1393583385 7316-2156 BS_H9813KRS A A c.1629+2T>C p.X543_splice ENST00000377807 130 117 12 33 33 0 RRBP1,splice_donor_variant,,ENST00000246043,;RRBP1,splice_donor_variant,,ENST00000360807,NM_004587.2;RRBP1,splice_donor_variant,,ENST00000377807,NM_001042576.1;RRBP1,splice_donor_variant,,ENST00000377813,;RRBP1,splice_donor_variant,,ENST00000455029,;RRBP1,splice_donor_variant,,ENST00000610403,;RRBP1,upstream_gene_variant,,ENST00000470422,;RRBP1,splice_donor_variant,,ENST00000495501,; G ENSG00000125844 ENST00000377807 Transcript splice_donor_variant rs1393583385 1 -1 RRBP1 HGNC HGNC:10448 protein_coding YES CCDS13128.1 ENSP00000367038 Q9P2E9 UPI000002B2C0 NM_001042576.1 11/25 HIGH 1 SNV 5 PASS GAC . . 17627502 CST3 . GRCh38 chr20 23637790 23637790 + Missense_Mutation SNP C C T rs1064039 7316-2156 BS_H9813KRS C C c.73G>A p.Ala25Thr p.A25T ENST00000398411 1/4 202 147 38 30 29 0 CST3,missense_variant,p.Ala25Thr,ENST00000398411,NM_001288614.1;CST3,missense_variant,p.Ala25Thr,ENST00000376925,NM_000099.3;CST3,missense_variant,p.Ala25Thr,ENST00000398409,;,regulatory_region_variant,,ENSR00000135699,; T ENSG00000101439 ENST00000398411 Transcript missense_variant 156/3286 73/441 25/146 A/T Gcc/Acc rs1064039,COSM3749695 1 -1 CST3 HGNC HGNC:2475 protein_coding YES CCDS13158.1 ENSP00000381448 P01034 A0A0K0K1J1 UPI000002B9AD NM_001288614.1 tolerated(0.58) benign(0.003) 1/4 hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF42,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg 0.2123 0.1997 0.1326 0.123 0.2256 0.364 0.1841 0.1748 pathogenic 0,1 18779388,21547229,22191060,18830724,20534741,11815350,22435454,25893795,18631747,20080314,28781776 MODERATE 1 SNV 1 1,1 1 PASS GCC . . 0.2013 0.2445 0.09367 0.1629 0.1326 0.2314 0.2135 0.1776 0.2968 23637790 EMILIN3 . GRCh38 chr20 41366465 41366465 + Splice_Region SNP T T G novel 7316-2156 BS_H9813KRS T T c.167+3A>C ENST00000332312 73 58 9 23 22 0 EMILIN3,splice_region_variant,,ENST00000332312,NM_052846.1;,regulatory_region_variant,,ENSR00000137307,; G ENSG00000183798 ENST00000332312 Transcript splice_region_variant,intron_variant 1 -1 EMILIN3 HGNC HGNC:16123 protein_coding YES CCDS13316.1 ENSP00000332806 Q9NT22 UPI00001D82E8 NM_052846.1 1/3 LOW 1 SNV 1 PASS TTA . . 41366465 TOX2 . GRCh38 chr20 43914926 43914926 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.35T>G p.Val12Gly p.V12G ENST00000341197 1/9 73 59 10 37 35 0 TOX2,missense_variant,p.Val12Gly,ENST00000341197,NM_001098797.1;TOX2,upstream_gene_variant,,ENST00000372999,NM_032883.2;TOX2,upstream_gene_variant,,ENST00000423191,NM_001098796.1;,regulatory_region_variant,,ENSR00000137430,; G ENSG00000124191 ENST00000341197 Transcript missense_variant 63/1880 35/1521 12/506 V/G gTg/gGg 1 1 TOX2 HGNC HGNC:16095 protein_coding YES CCDS46603.1 ENSP00000344724 Q96NM4 UPI000040F535 NM_001098797.1 tolerated(0.52) possibly_damaging(0.851) 1/9 MODERATE 1 SNV 2 PASS GTG . . 43914926 SLPI . GRCh38 chr20 45253152 45253152 + Splice_Site SNP C C T rs113904719 7316-2156 BS_H9813KRS C C c.245-1G>A p.X82_splice ENST00000338380 120 103 15 31 31 0 SLPI,splice_acceptor_variant,,ENST00000338380,NM_003064.3;,regulatory_region_variant,,ENSR00000137645,; T ENSG00000124107 ENST00000338380 Transcript splice_acceptor_variant rs113904719 1 -1 SLPI HGNC HGNC:11092 protein_coding YES CCDS13347.1 ENSP00000342082 P03973 UPI0000036BB4 NM_003064.3 2/3 HIGH 1 SNV 1 PASS GCT . . 45253152 WFDC2 . GRCh38 chr20 45469859 45469859 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.78A>C p.Ser26= p.S26= ENST00000372676 1/4 111 96 6 32 32 0 WFDC2,splice_region_variant,p.Ser26=,ENST00000372676,NM_006103.3;WFDC2,splice_region_variant,p.Ser26=,ENST00000339946,;WFDC2,splice_region_variant,p.Ser26=,ENST00000217425,;WFDC2,upstream_gene_variant,,ENST00000462062,;WFDC2,splice_region_variant,p.Ser26=,ENST00000447118,;,regulatory_region_variant,,ENSR00000137674,; C ENSG00000101443 ENST00000372676 Transcript splice_region_variant,synonymous_variant 154/614 78/375 26/124 S tcA/tcC 1 1 WFDC2 HGNC HGNC:15939 protein_coding YES CCDS35501.1 ENSP00000361761 Q14508 UPI000000D8F6 NM_006103.3 1/4 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19441:SF34,hmmpanther:PTHR19441 LOW 1 SNV 1 PASS CAG . . 45469859 MMP9 . GRCh38 chr20 46009039 46009039 + Missense_Mutation SNP A A G rs41427445 7316-2156 BS_H9813KRS A A c.113A>G p.Asn38Ser p.N38S ENST00000372330 1/13 135 116 11 47 46 1 MMP9,missense_variant,p.Asn38Ser,ENST00000372330,NM_004994.2;SLC12A5-AS1,downstream_gene_variant,,ENST00000535913,;,regulatory_region_variant,,ENSR00000137738,; G ENSG00000100985 ENST00000372330 Transcript missense_variant 132/2336 113/2124 38/707 N/S aAt/aGt rs41427445 1 1 MMP9 HGNC HGNC:7176 protein_coding YES CCDS13390.1 ENSP00000361405 P14780 UPI000013C712 NM_004994.2 tolerated(0.38) benign(0.033) 1/13 PDB-ENSP_mappings:1l6j.A,PDB-ENSP_mappings:5ue3.A,PDB-ENSP_mappings:5ue3.B,PDB-ENSP_mappings:5ue4.A,PDB-ENSP_mappings:5ue4.B,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF30,Superfamily_domains:SSF47090 0.0080 0.0076 0.0072 0.004 0.0149 0.0061 0.009532 0.01198 24627221,26207422,20605480 MODERATE 1 SNV 1 1 PASS AAT . . 0.009203 0.009347 0.005965 0.04695 0.001278 0.002891 0.0105 0.01336 0.004137 46009039 GNAS . GRCh38 chr20 58909948 58909948 + Splice_Region SNP T T C novel 7316-2156 BS_H9813KRS T T c.2769-3T>C ENST00000371100 103 95 8 39 39 0 GNAS,splice_region_variant,,ENST00000265620,NM_001077489.3;GNAS,splice_region_variant,,ENST00000306090,;GNAS,splice_region_variant,,ENST00000313949,NM_001309840.1,NM_001309861.1;GNAS,splice_region_variant,,ENST00000354359,NM_001077488.3;GNAS,splice_region_variant,,ENST00000371075,NM_016592.3;GNAS,splice_region_variant,,ENST00000371085,NM_000516.5;GNAS,splice_region_variant,,ENST00000371095,NM_080426.3;GNAS,splice_region_variant,,ENST00000371100,NM_080425.3;GNAS,splice_region_variant,,ENST00000371102,;GNAS,downstream_gene_variant,,ENST00000349036,;GNAS,downstream_gene_variant,,ENST00000419558,;GNAS,downstream_gene_variant,,ENST00000450130,;GNAS,downstream_gene_variant,,ENST00000603546,;GNAS,downstream_gene_variant,,ENST00000604005,;GNAS,splice_region_variant,,ENST00000464624,;GNAS,splice_region_variant,,ENST00000477931,;GNAS,splice_region_variant,,ENST00000480232,;GNAS,splice_region_variant,,ENST00000480975,;GNAS,splice_region_variant,,ENST00000488546,;GNAS,splice_region_variant,,ENST00000488652,;GNAS,splice_region_variant,,ENST00000494081,;GNAS,downstream_gene_variant,,ENST00000464788,;GNAS,downstream_gene_variant,,ENST00000467227,;GNAS,downstream_gene_variant,,ENST00000467321,;GNAS,downstream_gene_variant,,ENST00000468895,;GNAS,downstream_gene_variant,,ENST00000469431,;GNAS,downstream_gene_variant,,ENST00000470512,;GNAS,downstream_gene_variant,,ENST00000472183,;GNAS,downstream_gene_variant,,ENST00000476935,;GNAS,downstream_gene_variant,,ENST00000478585,;GNAS,downstream_gene_variant,,ENST00000481039,;GNAS,downstream_gene_variant,,ENST00000482112,;GNAS,downstream_gene_variant,,ENST00000485673,;GNAS,downstream_gene_variant,,ENST00000490374,;GNAS,downstream_gene_variant,,ENST00000492907,;GNAS,downstream_gene_variant,,ENST00000493958,;GNAS,splice_region_variant,,ENST00000476196,;GNAS,splice_region_variant,,ENST00000487862,;GNAS,splice_region_variant,,ENST00000496934,;GNAS,upstream_gene_variant,,ENST00000475610,;GNAS,downstream_gene_variant,,ENST00000479025,;GNAS,downstream_gene_variant,,ENST00000487981,; C ENSG00000087460 ENST00000371100 Transcript splice_region_variant,intron_variant 1 1 GNAS HGNC HGNC:4392 protein_coding YES CCDS46622.1 ENSP00000360141 Q5JWF2 UPI0000E444AE NM_080425.3 10/12 LOW 1 SNV 5 1 PASS GTA . . 58909948 RTEL1 . GRCh38 chr20 63695140 63695140 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.3418T>G p.Tyr1140Asp p.Y1140D ENST00000360203 33/35 101 90 9 49 49 0 RTEL1,missense_variant,p.Tyr1140Asp,ENST00000370018,NM_016434.3;RTEL1,missense_variant,p.Tyr1140Asp,ENST00000360203,NM_001283009.1;RTEL1,missense_variant,p.Tyr1164Asp,ENST00000508582,NM_032957.4;RTEL1,missense_variant,p.Tyr917Asp,ENST00000318100,NM_001283010.1;TNFRSF6B,upstream_gene_variant,,ENST00000369996,NM_003823.3;RTEL1,downstream_gene_variant,,ENST00000425905,;ARFRP1,downstream_gene_variant,,ENST00000607873,NM_001267546.2;ARFRP1,downstream_gene_variant,,ENST00000612157,NM_001267544.2,NM_001134758.3,NM_001267549.2;ARFRP1,downstream_gene_variant,,ENST00000612256,;ARFRP1,downstream_gene_variant,,ENST00000614942,NM_001267545.2;ARFRP1,downstream_gene_variant,,ENST00000618838,;ARFRP1,downstream_gene_variant,,ENST00000619493,NM_001267548.2;ARFRP1,downstream_gene_variant,,ENST00000622789,NM_001267547.2,NM_003224.5;ARFRP1,downstream_gene_variant,,ENST00000609188,;ARFRP1,downstream_gene_variant,,ENST00000610414,;ARFRP1,downstream_gene_variant,,ENST00000612772,;RTEL1-TNFRSF6B,3_prime_UTR_variant,,ENST00000492259,;RTEL1,3_prime_UTR_variant,,ENST00000496816,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000496281,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000480273,;RTEL1,non_coding_transcript_exon_variant,,ENST00000370003,;RTEL1,downstream_gene_variant,,ENST00000482936,;ARFRP1,downstream_gene_variant,,ENST00000610774,;ARFRP1,downstream_gene_variant,,ENST00000618568,;,regulatory_region_variant,,ENSR00000139941,; G ENSG00000258366 ENST00000360203 Transcript missense_variant 3761/4630 3418/3903 1140/1300 Y/D Tac/Gac 1 1 RTEL1 HGNC HGNC:15888 protein_coding YES CCDS63331.1 ENSP00000353332 Q9NZ71 UPI00002063E3 NM_001283009.1 tolerated_low_confidence(0.28) benign(0.006) 33/35 mobidb-lite MODERATE SNV 5 1 PASS CTA . . 63695140 PAXBP1 . GRCh38 chr21 32771603 32771603 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.66A>C p.Glu22Asp p.E22D ENST00000331923 1/18 99 86 9 25 23 0 PAXBP1,missense_variant,p.Glu22Asp,ENST00000331923,NM_016631.3;PAXBP1,missense_variant,p.Glu22Asp,ENST00000290178,NM_013329.3;C21orf62-AS1,upstream_gene_variant,,ENST00000382375,;C21orf62-AS1,upstream_gene_variant,,ENST00000382377,;C21orf62-AS1,upstream_gene_variant,,ENST00000382378,;C21orf62-AS1,upstream_gene_variant,,ENST00000454365,;C21orf62-AS1,upstream_gene_variant,,ENST00000477513,;C21orf62-AS1,upstream_gene_variant,,ENST00000491756,;C21orf62-AS1,upstream_gene_variant,,ENST00000612326,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000472588,;PAXBP1,missense_variant,p.Glu22Asp,ENST00000443785,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000464256,;,regulatory_region_variant,,ENSR00000141464,; G ENSG00000159086 ENST00000331923 Transcript missense_variant 256/3995 66/2754 22/917 E/D gaA/gaC 1 -1 PAXBP1 HGNC HGNC:13579 protein_coding YES CCDS13619.1 ENSP00000328992 Q9Y5B6 UPI000012B294 NM_016631.3 tolerated_low_confidence(0.31) benign(0.123) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12214,hmmpanther:PTHR12214:SF2 MODERATE 1 SNV 1 PASS GTT . . 32771603 OLIG1 . GRCh38 chr21 33070445 33070445 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.199A>C p.Lys67Gln p.K67Q ENST00000382348 1/1 82 61 12 36 36 0 OLIG1,missense_variant,p.Lys67Gln,ENST00000382348,NM_138983.2;OLIG1,upstream_gene_variant,,ENST00000426947,;AP000282.1,intron_variant,,ENST00000454622,;OLIG1,upstream_gene_variant,,ENST00000498799,;,regulatory_region_variant,,ENSR00000141504,; C ENSG00000184221 ENST00000382348 Transcript missense_variant 302/2277 199/816 67/271 K/Q Aag/Cag 1 1 OLIG1 HGNC HGNC:16983 protein_coding YES CCDS42920.2 ENSP00000371785 Q8TAK6 UPI0000130C80 NM_138983.2 deleterious_low_confidence(0) benign(0.067) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR19290:SF7,hmmpanther:PTHR19290 MODERATE SNV PASS CAA . . 33070445 KRTAP10-9 . GRCh38 chr21 44627663 44627663 + Missense_Mutation SNP A A C 7316-2156 BS_H9813KRS A A c.492A>C p.Gln164His p.Q164H ENST00000397911 1/1 116 93 7 30 27 0 KRTAP10-4,missense_variant,p.Gln257His,ENST00000622352,;KRTAP10-9,missense_variant,p.Gln164His,ENST00000397911,NM_198690.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-9,intron_variant,,ENST00000616529,;KRTAP10-9,intron_variant,,ENST00000484861,;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000221837 ENST00000397911 Transcript missense_variant 541/1171 492/879 164/292 Q/H caA/caC COSM6285995 1 1 KRTAP10-9 HGNC HGNC:22971 protein_coding YES CCDS42961.1 ENSP00000381009 P60411 UPI000036709D NM_198690.2 deleterious(0) benign(0) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF142,Low_complexity_(Seg):seg 1 MODERATE SNV 1 PASS AAC . . 44627663 COL18A1 . GRCh38 chr21 45490296 45490296 + Missense_Mutation SNP G G A rs62000962 7316-2156 BS_H9813KRS G G c.3226G>A p.Val1076Ile p.V1076I ENST00000359759 19/41 142 114 22 39 39 0 COL18A1,missense_variant,p.Val1076Ile,ENST00000359759,NM_130444.2;COL18A1,missense_variant,p.Val841Ile,ENST00000355480,NM_030582.3;COL18A1,missense_variant,p.Val661Ile,ENST00000400337,NM_130445.3;COL18A1,missense_variant,p.Val8Ile,ENST00000342220,;SLC19A1,downstream_gene_variant,,ENST00000417954,;COL18A1,upstream_gene_variant,,ENST00000459895,;,regulatory_region_variant,,ENSR00000143247,; A ENSG00000182871 ENST00000359759 Transcript missense_variant 3226/6586 3226/5265 1076/1754 V/I Gtc/Atc rs62000962,COSM3766673,COSM3766672 1 1 COL18A1 HGNC HGNC:2195 protein_coding YES CCDS77643.1 ENSP00000352798 P39060 UPI0001838820 NM_130444.2 tolerated(0.2) benign(0.025) 19/41 mobidb-lite,hmmpanther:PTHR45362,Pfam_domain:PF01391,Pfam_domain:PF01391 0.1156 0.1483 0.0821 0.0129 0.1322 0.184 0.1488 0.1117 benign 0,1,1 25741868 MODERATE 1 SNV 5 1,1,1 1 PASS AGT . . 0.1162 0.1471 0.07085 0.1113 0.01772 0.1614 0.1241 0.1155 0.1518 45490296 SLC19A1 . GRCh38 chr21 45537767 45537767 + Splice_Region SNP A A C novel 7316-2156 BS_H9813KRS A A c.189+4T>G ENST00000311124 118 73 15 33 23 0 SLC19A1,splice_region_variant,,ENST00000311124,NM_194255.2;SLC19A1,splice_region_variant,,ENST00000380010,NM_001205206.1;SLC19A1,splice_region_variant,,ENST00000427839,;SLC19A1,splice_region_variant,,ENST00000443742,;SLC19A1,splice_region_variant,,ENST00000567670,;SLC19A1,upstream_gene_variant,,ENST00000485649,NM_001205207.1;SLC19A1,downstream_gene_variant,,ENST00000528477,;SLC19A1,splice_region_variant,,ENST00000486303,; C ENSG00000173638 ENST00000311124 Transcript splice_region_variant,intron_variant 1 -1 SLC19A1 HGNC HGNC:10937 protein_coding YES CCDS13725.1 ENSP00000308895 P41440 UPI000012AA0F NM_194255.2 2/5 LOW 1 SNV 1 1 PASS CAT . . 45537767 COL6A1 . GRCh38 chr21 45984265 45984265 + Splice_Region SNP G G A novel 7316-2156 BS_H9813KRS G G c.228-4G>A ENST00000361866 118 104 8 35 35 0 COL6A1,splice_region_variant,,ENST00000361866,NM_001848.2;COL6A1,splice_region_variant,,ENST00000612273,;COL6A1,upstream_gene_variant,,ENST00000492851,; A ENSG00000142156 ENST00000361866 Transcript splice_region_variant,intron_variant 1 1 COL6A1 HGNC HGNC:2211 protein_coding YES CCDS13727.1 ENSP00000355180 P12109 UPI000019B179 NM_001848.2 2/34 LOW 1 SNV 1 1 PASS GGC . . 45984265 COL6A1 . GRCh38 chr21 45986942 45986942 + Splice_Site SNP A A T rs113510334 7316-2156 BS_H9813KRS A A c.589-2A>T p.X197_splice ENST00000361866 104 88 9 38 36 0 COL6A1,splice_acceptor_variant,,ENST00000361866,NM_001848.2;COL6A1,splice_acceptor_variant,,ENST00000612273,;COL6A1,upstream_gene_variant,,ENST00000492851,; T ENSG00000142156 ENST00000361866 Transcript splice_acceptor_variant rs113510334 1 1 COL6A1 HGNC HGNC:2211 protein_coding YES CCDS13727.1 ENSP00000355180 P12109 UPI000019B179 NM_001848.2 4/34 HIGH 1 SNV 1 1 PASS CAG . . 45986942 COL6A1 . GRCh38 chr21 45990828 45990828 + Splice_Site SNP T T G 7316-2156 BS_H9813KRS T T c.1056+2T>G p.X352_splice ENST00000361866 96 89 6 21 21 0 COL6A1,splice_donor_variant,,ENST00000361866,NM_001848.2;COL6A1,splice_donor_variant,,ENST00000612273,;COL6A1,downstream_gene_variant,,ENST00000492851,;,regulatory_region_variant,,ENSR00000143317,; G ENSG00000142156 ENST00000361866 Transcript splice_donor_variant CS991355 1 1 COL6A1 HGNC HGNC:2211 protein_coding YES CCDS13727.1 ENSP00000355180 P12109 UPI000019B179 NM_001848.2 14/34 HIGH 1 SNV 1 1 1 PASS GTA . . 45990828 COL6A1 . GRCh38 chr21 45997697 45997697 + Splice_Region SNP C C G rs113787729 7316-2156 BS_H9813KRS C C c.1462-3C>G ENST00000361866 172 94 7 36 36 0 COL6A1,splice_region_variant,,ENST00000361866,NM_001848.2;COL6A1,splice_region_variant,,ENST00000612273,;COL6A1,upstream_gene_variant,,ENST00000463060,;COL6A1,upstream_gene_variant,,ENST00000486023,;COL6A1,upstream_gene_variant,,ENST00000498614,;COL6A1,upstream_gene_variant,,ENST00000466285,; G ENSG00000142156 ENST00000361866 Transcript splice_region_variant,intron_variant rs113787729 1 1 COL6A1 HGNC HGNC:2211 protein_coding YES CCDS13727.1 ENSP00000355180 P12109 UPI000019B179 NM_001848.2 21/34 LOW 1 SNV 1 1 PASS TCA . . 45997697 COL6A1 . GRCh38 chr21 45998896 45998896 + Splice_Site SNP G G C rs112667801 7316-2156 BS_H9813KRS G G c.1612-1G>C p.X538_splice ENST00000361866 122 103 10 39 38 0 COL6A1,splice_acceptor_variant,,ENST00000361866,NM_001848.2;COL6A1,splice_acceptor_variant,,ENST00000612273,;COL6A1,upstream_gene_variant,,ENST00000463060,;COL6A1,upstream_gene_variant,,ENST00000486023,;COL6A1,upstream_gene_variant,,ENST00000498614,;COL6A1,upstream_gene_variant,,ENST00000466285,;,regulatory_region_variant,,ENSR00000143321,; C ENSG00000142156 ENST00000361866 Transcript splice_acceptor_variant rs112667801 1 1 COL6A1 HGNC HGNC:2211 protein_coding YES CCDS13727.1 ENSP00000355180 P12109 UPI000019B179 NM_001848.2 24/34 HIGH 1 SNV 1 1 PASS AGG . . 45998896 COL6A1 . GRCh38 chr21 46003540 46003540 + Missense_Mutation SNP C C T rs368561027 7316-2156 BS_H9813KRS C C c.2614C>T p.Arg872Trp p.R872W ENST00000361866 35/35 238 167 62 35 35 0 COL6A1,missense_variant,p.Arg872Trp,ENST00000361866,NM_001848.2;COL6A1,missense_variant,p.Arg870Trp,ENST00000612273,;COL6A1,non_coding_transcript_exon_variant,,ENST00000498614,;COL6A1,non_coding_transcript_exon_variant,,ENST00000486023,;COL6A1,downstream_gene_variant,,ENST00000463060,;COL6A1,downstream_gene_variant,,ENST00000466285,;,regulatory_region_variant,,ENSR00000143322,; T ENSG00000142156 ENST00000361866 Transcript missense_variant 2728/4238 2614/3087 872/1028 R/W Cgg/Tgg rs368561027,CM1211772 1 1 COL6A1 HGNC HGNC:2211 protein_coding YES CCDS13727.1 ENSP00000355180 P12109 UPI000019B179 NM_001848.2 deleterious(0) probably_damaging(0.991) 35/35 Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR44172,hmmpanther:PTHR44172:SF3,SMART_domains:SM00327,Superfamily_domains:SSF53300,cd01480 0.0008 0.0023 0.001 0.0002289 uncertain_significance 23757202 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 8.726e-05 0.0007566 0.0002393 1.854e-05 46003540 COL6A2 . GRCh38 chr21 46117872 46117872 + Splice_Site SNP A A G rs886044023 7316-2156 BS_H9813KRS A A c.1054-2A>G p.X352_splice ENST00000300527 98 80 8 35 34 0 COL6A2,splice_acceptor_variant,,ENST00000300527,NM_001849.3;COL6A2,splice_acceptor_variant,,ENST00000310645,NM_058175.2;COL6A2,splice_acceptor_variant,,ENST00000397763,NM_058174.2;COL6A2,splice_acceptor_variant,,ENST00000409416,;COL6A2,upstream_gene_variant,,ENST00000413758,;COL6A2,downstream_gene_variant,,ENST00000460886,;COL6A2,downstream_gene_variant,,ENST00000485591,; G ENSG00000142173 ENST00000300527 Transcript splice_acceptor_variant rs886044023,COSM1616176,COSM1616175,COSM1616174 1 1 COL6A2 HGNC HGNC:2212 protein_coding YES CCDS13728.1 ENSP00000300527 P12110 UPI00001AECE0 NM_001849.3 11/27 pathogenic 0,1,1,1 HIGH 1 SNV 1 1,1,1,1 1 PASS CAG . . 46117872 COL6A2 . GRCh38 chr21 46118678 46118678 + Splice_Site SNP T T G novel 7316-2156 BS_H9813KRS T T c.1179+2T>G p.X393_splice ENST00000300527 133 116 10 35 33 1 COL6A2,splice_donor_variant,,ENST00000300527,NM_001849.3;COL6A2,splice_donor_variant,,ENST00000310645,NM_058175.2;COL6A2,splice_donor_variant,,ENST00000397763,NM_058174.2;COL6A2,splice_donor_variant,,ENST00000409416,;COL6A2,upstream_gene_variant,,ENST00000413758,;COL6A2,downstream_gene_variant,,ENST00000485591,; G ENSG00000142173 ENST00000300527 Transcript splice_donor_variant 1 1 COL6A2 HGNC HGNC:2212 protein_coding YES CCDS13728.1 ENSP00000300527 P12110 UPI00001AECE0 NM_001849.3 13/27 HIGH 1 SNV 1 1 PASS GTG . . 46118678 COL6A2 . GRCh38 chr21 46119046 46119046 + Missense_Mutation SNP G G A rs2839110 7316-2156 BS_H9813KRS G G c.1196G>A p.Ser399Asn p.S399N ENST00000300527 14/28 149 106 40 29 29 0 COL6A2,missense_variant,p.Ser399Asn,ENST00000300527,NM_001849.3;COL6A2,missense_variant,p.Ser399Asn,ENST00000310645,NM_058175.2;COL6A2,missense_variant,p.Ser399Asn,ENST00000409416,;COL6A2,missense_variant,p.Ser399Asn,ENST00000397763,NM_058174.2;COL6A2,upstream_gene_variant,,ENST00000413758,;COL6A2,downstream_gene_variant,,ENST00000485591,; A ENSG00000142173 ENST00000300527 Transcript missense_variant 1300/3461 1196/3060 399/1019 S/N aGt/aAt rs2839110,COSM3758960,COSM3758959,COSM3758958 1 1 COL6A2 HGNC HGNC:2212 protein_coding YES CCDS13728.1 ENSP00000300527 P12110 UPI00001AECE0 NM_001849.3 tolerated(0.91) benign(0) 14/28 Gene3D:2.160.20.50,hmmpanther:PTHR44172,hmmpanther:PTHR44172:SF1,mobidb-lite 0.5045 0.8804 0.874 0.83 0.5501 0.5366 0.8279 benign 0,1,1,1 25741868,23757202,18414213 MODERATE 1 SNV 1 1,1,1,1 1 PASS AGT . . 0.7844 0.5312 0.8961 0.7896 0.8682 0.8067 0.8224 0.8173 0.5802 46119046 COL6A2 . GRCh38 chr21 46119786 46119786 + Splice_Site SNP A A C novel 7316-2156 BS_H9813KRS A A c.1270-2A>C p.X424_splice ENST00000300527 121 109 9 26 26 0 COL6A2,splice_acceptor_variant,,ENST00000300527,NM_001849.3;COL6A2,splice_acceptor_variant,,ENST00000310645,NM_058175.2;COL6A2,splice_acceptor_variant,,ENST00000397763,NM_058174.2;COL6A2,splice_acceptor_variant,,ENST00000409416,;COL6A2,upstream_gene_variant,,ENST00000413758,;COL6A2,downstream_gene_variant,,ENST00000485591,; C ENSG00000142173 ENST00000300527 Transcript splice_acceptor_variant 1 1 COL6A2 HGNC HGNC:2212 protein_coding YES CCDS13728.1 ENSP00000300527 P12110 UPI00001AECE0 NM_001849.3 14/27 HIGH 1 SNV 1 1 PASS CAG . . 46119786 COL6A2 . GRCh38 chr21 46125854 46125854 + Missense_Mutation SNP G G A rs1042917 7316-2156 BS_H9813KRS G G c.2039G>A p.Arg680His p.R680H ENST00000300527 26/28 194 163 26 31 31 0 COL6A2,missense_variant,p.Arg680His,ENST00000300527,NM_001849.3;COL6A2,missense_variant,p.Arg680His,ENST00000310645,NM_058175.2;COL6A2,missense_variant,p.Arg680His,ENST00000409416,;COL6A2,missense_variant,p.Arg680His,ENST00000397763,NM_058174.2;COL6A2,missense_variant,p.Arg237His,ENST00000413758,; A ENSG00000142173 ENST00000300527 Transcript missense_variant 2143/3461 2039/3060 680/1019 R/H cGt/cAt rs1042917,COSM3758963,COSM3758962,COSM3758961 1 1 COL6A2 HGNC HGNC:2212 protein_coding YES CCDS13728.1 ENSP00000300527 P12110 UPI00001AECE0 NM_001849.3 tolerated(0.1) probably_damaging(0.982) 26/28 Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR44172,hmmpanther:PTHR44172:SF1,SMART_domains:SM00327,Superfamily_domains:SSF53300,cd01480 0.3940 0.208 0.6398 0.4306 0.5099 0.3139 0.2408 0.5012 benign 0,1,1,1 25741868,23757202,18414213,20466643,27923400 MODERATE 1 SNV 1 1,1,1,1 1 PASS CGT . . 0.4921 0.2392 0.6518 0.5195 0.4402 0.6222 0.502 0.5274 0.3272 46125854 COL6A2 . GRCh38 chr21 46132535 46132535 + Missense_Mutation SNP A A C rs11910483 7316-2156 BS_H9813KRS A A c.3043A>C p.Ile1015Leu p.I1015L ENST00000300527 28/28 279 188 85 30 29 0 COL6A2,missense_variant,p.Ile1015Leu,ENST00000300527,NM_001849.3;FTCD,downstream_gene_variant,,ENST00000291670,NM_006657.2;COL6A2,downstream_gene_variant,,ENST00000310645,NM_058175.2;FTCD,downstream_gene_variant,,ENST00000397743,;FTCD,downstream_gene_variant,,ENST00000397746,NM_206965.1;FTCD,downstream_gene_variant,,ENST00000397748,NM_001320412.1;COL6A2,downstream_gene_variant,,ENST00000397763,NM_058174.2;COL6A2,downstream_gene_variant,,ENST00000409416,;FTCD,downstream_gene_variant,,ENST00000446405,;FTCD,downstream_gene_variant,,ENST00000460011,;FTCD,downstream_gene_variant,,ENST00000483568,;FTCD,downstream_gene_variant,,ENST00000494498,;FTCD,downstream_gene_variant,,ENST00000498355,;,regulatory_region_variant,,ENSR00000143355,; C ENSG00000142173 ENST00000300527 Transcript missense_variant 3147/3461 3043/3060 1015/1019 I/L Atc/Ctc rs11910483 1 1 COL6A2 HGNC HGNC:2212 protein_coding YES CCDS13728.1 ENSP00000300527 P12110 UPI00001AECE0 NM_001849.3 tolerated(0.17) possibly_damaging(0.481) 28/28 Gene3D:3.40.50.410,hmmpanther:PTHR44172,hmmpanther:PTHR44172:SF1,Superfamily_domains:SSF53300 0.0212 0.0756 0.0072 0.001 0.06392 0.0004653 benign,likely_benign 25741868,23757202 MODERATE 1 SNV 1 1 1 PASS CAT . . 0.00539 0.06937 0.004581 0.0005902 0.005605 6.609e-05 46132535 SCARF2 . GRCh38 chr22 20426171 20426171 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1820T>G p.Leu607Arg p.L607R ENST00000623402 11/11 82 69 6 29 29 0 SCARF2,missense_variant,p.Leu607Arg,ENST00000623402,NM_153334.6;SCARF2,missense_variant,p.Leu602Arg,ENST00000622235,NM_182895.4;SCARF2,non_coding_transcript_exon_variant,,ENST00000494535,;AC007731.5,downstream_gene_variant,,ENST00000429594,; C ENSG00000244486 ENST00000623402 Transcript missense_variant 1892/3248 1820/2616 607/871 L/R cTc/cGc 1 -1 SCARF2 HGNC HGNC:19869 protein_coding YES CCDS13779.2 ENSP00000485276 A0A096LNX8 UPI0000EE7ADB NM_153334.6 tolerated(0.23) possibly_damaging(0.857) 11/11 hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF5,mobidb-lite MODERATE 1 SNV 1 1 PASS GAG . . 20426171 IGLV4-69 . GRCh38 chr22 22031287 22031287 + Missense_Mutation SNP G G T novel 7316-2156 BS_H9813KRS G G c.174G>T p.Gln58His p.Q58H ENST00000390282 2/2 130 111 16 40 40 0 IGLV4-69,missense_variant,p.Gln58His,ENST00000390282,;PRAMENP,intron_variant,,ENST00000337471,;PRAMENP,intron_variant,,ENST00000419303,;,regulatory_region_variant,,ENSR00000144084,;IGLVI-68,upstream_gene_variant,,ENST00000519525,;IGLVI-70,downstream_gene_variant,,ENST00000523272,; T ENSG00000211637 ENST00000390282 Transcript missense_variant 234/419 174/359 58/119 Q/H caG/caT 1 1 IGLV4-69 HGNC HGNC:5921 IG_V_gene YES ENSP00000374817 A0A075B6H9 UPI0000F30329 deleterious(0) possibly_damaging(0.753) 2/2 MODERATE SNV PASS AGC . . 22031287 IGLV1-51 . GRCh38 chr22 22322812 22322812 + Missense_Mutation SNP C C G rs563818863 7316-2156 BS_H9813KRS C C c.196C>G p.Leu66Val p.L66V ENST00000390290 2/2 124 94 16 37 37 0 IGLV1-51,missense_variant,p.Leu66Val,ENST00000390290,;IGLV5-52,downstream_gene_variant,,ENST00000390289,;IGLV1-50,upstream_gene_variant,,ENST00000390291,; G ENSG00000211644 ENST00000390290 Transcript missense_variant 232/389 196/353 66/117 L/V Ctc/Gtc rs563818863 1 1 IGLV1-51 HGNC HGNC:5882 IG_V_gene YES ENSP00000374825 P01701 UPI000011717C deleterious(0.05) benign(0.09) 2/2 0.0002 0.0008 MODERATE 1 SNV PASS ACT . . 1.219e-05 6.578e-05 0.0001016 0.0001826 22322812 IGLV1-40 . GRCh38 chr22 22410068 22410068 + Missense_Mutation SNP A A T rs187953594 7316-2156 BS_H9813KRS A A c.142A>T p.Ile48Phe p.I48F ENST00000390299 2/2 180 139 28 41 41 0 IGLV1-40,missense_variant,p.Ile48Phe,ENST00000390299,; T ENSG00000211653 ENST00000390299 Transcript missense_variant 193/407 142/356 48/118 I/F Atc/Ttc rs187953594 1 1 IGLV1-40 HGNC HGNC:5877 IG_V_gene YES ENSP00000374834 P01703 UPI000011DFB1 deleterious_low_confidence(0) benign(0.168) 2/2 0.0004 0.002 MODERATE 1 SNV PASS CAT . . 1.219e-05 2.687e-05 22410068 IGLV1-40 . GRCh38 chr22 22410210 22410210 + Missense_Mutation SNP C C T novel 7316-2156 BS_H9813KRS C C c.284C>T p.Ala95Val p.A95V ENST00000390299 2/2 167 134 26 46 45 0 IGLV1-40,missense_variant,p.Ala95Val,ENST00000390299,;,regulatory_region_variant,,ENSR00000144118,; T ENSG00000211653 ENST00000390299 Transcript missense_variant 335/407 284/356 95/118 A/V gCc/gTc 1 1 IGLV1-40 HGNC HGNC:5877 IG_V_gene YES ENSP00000374834 P01703 UPI000011DFB1 deleterious_low_confidence(0.01) benign(0.014) 2/2 MODERATE 1 SNV PASS GCC . . 22410210 IGLV1-40 . GRCh38 chr22 22410242 22410242 + Missense_Mutation SNP G G A rs547836185 7316-2156 BS_H9813KRS G G c.316G>A p.Asp106Asn p.D106N ENST00000390299 2/2 162 149 8 46 46 0 IGLV1-40,missense_variant,p.Asp106Asn,ENST00000390299,;,regulatory_region_variant,,ENSR00000144118,; A ENSG00000211653 ENST00000390299 Transcript missense_variant 367/407 316/356 106/118 D/N Gat/Aat rs547836185 1 1 IGLV1-40 HGNC HGNC:5877 IG_V_gene YES ENSP00000374834 P01703 UPI000011DFB1 deleterious_low_confidence(0.02) possibly_damaging(0.852) 2/2 MODERATE 1 SNV PASS TGA . . 22410242 IGLV3-25 . GRCh38 chr22 22687073 22687073 + Missense_Mutation SNP C C G rs182727015 7316-2156 BS_H9813KRS C C c.139C>G p.Pro47Ala p.P47A ENST00000390305 2/2 123 84 28 31 31 0 IGLV3-25,missense_variant,p.Pro47Ala,ENST00000390305,;AC244250.2,upstream_gene_variant,,ENST00000418731,; G ENSG00000211659 ENST00000390305 Transcript missense_variant 182/380 139/337 47/112 P/A Cca/Gca rs182727015 1 1 IGLV3-25 HGNC HGNC:5908 IG_V_gene YES ENSP00000374840 P01717 UPI0004620D1D tolerated(0.12) benign(0) 2/2 MODERATE 1 SNV PASS GCC . . 1.642e-05 6.545e-05 2.979e-05 1.832e-05 22687073 IGLV3-25 . GRCh38 chr22 22687124 22687124 + Missense_Mutation SNP C C G rs5751507 7316-2156 BS_H9813KRS C C c.190C>G p.Leu64Val p.L64V ENST00000390305 2/2 92 62 17 33 32 0 IGLV3-25,missense_variant,p.Leu64Val,ENST00000390305,;AC244250.2,upstream_gene_variant,,ENST00000418731,; G ENSG00000211659 ENST00000390305 Transcript missense_variant 233/380 190/337 64/112 L/V Ctg/Gtg rs5751507 1 1 IGLV3-25 HGNC HGNC:5908 IG_V_gene YES ENSP00000374840 P01717 UPI0004620D1D deleterious(0.04) benign(0.097) 2/2 0.0076 0.0014 0.001 0.006 MODERATE 1 SNV PASS GCT . . 0.0001356 0.0002623 8.943e-05 0.0003063 5.803e-05 0.0001833 0.0001833 3.249e-05 22687124 IGLV2-23 . GRCh38 chr22 22698245 22698245 + Missense_Mutation SNP C C A rs540956404 7316-2156 BS_H9813KRS C C c.178C>A p.His60Asn p.H60N ENST00000390306 2/2 102 89 5 39 38 0 IGLV2-23,missense_variant,p.His60Asn,ENST00000390306,;AC244250.1,upstream_gene_variant,,ENST00000438185,;IGLV3-24,downstream_gene_variant,,ENST00000517477,;IGLVVI-22-1,upstream_gene_variant,,ENST00000521183,; A ENSG00000211660 ENST00000390306 Transcript missense_variant 340/502 178/340 60/113 H/N Cac/Aac rs540956404 1 1 IGLV2-23 HGNC HGNC:5890 IG_V_gene YES ENSP00000374841 P01705 UPI000173A2CA tolerated_low_confidence(0.24) benign(0.005) 2/2 MODERATE SNV PASS GCA . . 4.102e-06 6.585e-05 22698245 IGLV3-19 . GRCh38 chr22 22720921 22720921 + Missense_Mutation SNP G G A rs193091235 7316-2156 BS_H9813KRS G G c.113G>A p.Arg38Lys p.R38K ENST00000390309 2/2 102 95 6 32 31 0 IGLV3-19,missense_variant,p.Arg38Lys,ENST00000390309,;,regulatory_region_variant,,ENSR00000144151,; A ENSG00000211663 ENST00000390309 Transcript missense_variant 153/377 113/337 38/112 R/K aGg/aAg rs193091235 1 1 IGLV3-19 HGNC HGNC:5903 IG_V_gene YES ENSP00000374844 P01714 UPI000173A2CD tolerated(0.41) benign(0.024) 2/2 MODERATE 1 SNV PASS AGG . . 4.124e-06 6.647e-05 22720921 IGLV2-8 . GRCh38 chr22 22823153 22823153 + Missense_Mutation SNP G G C rs11558646 7316-2156 BS_H9813KRS G G c.218G>C p.Ser73Thr p.S73T ENST00000620395 2/2 125 109 9 44 44 0 IGLV2-8,missense_variant,p.Ser73Thr,ENST00000620395,;IGLV3-9,downstream_gene_variant,,ENST00000390316,;MIR650,downstream_gene_variant,,ENST00000385101,;,regulatory_region_variant,,ENSR00000144162,; C ENSG00000278196 ENST00000620395 Transcript missense_variant 381/517 218/354 73/118 S/T aGt/aCt rs11558646 1 1 IGLV2-8 HGNC HGNC:5895 IG_V_gene YES ENSP00000482937 P01709 UPI0000F30346 tolerated_low_confidence(0.15) benign(0.007) 2/2 0.0022 0.0023 0.0043 0.001 0.003 0.001 MODERATE 1 SNV PASS AGT . . 5.329e-05 6.555e-05 5.958e-05 0.0001019 6.39e-05 6.498e-05 22823153 IGLV3-1 . GRCh38 chr22 22881259 22881259 + Missense_Mutation SNP G G A rs61731685 7316-2156 BS_H9813KRS G G c.209G>A p.Ser70Asn p.S70N ENST00000390319 2/2 218 96 80 37 37 0 IGLV3-1,missense_variant,p.Ser70Asn,ENST00000390319,; A ENSG00000211673 ENST00000390319 Transcript missense_variant 261/398 209/346 70/115 S/N aGc/aAc rs61731685 1 1 IGLV3-1 HGNC HGNC:5896 IG_V_gene YES ENSP00000374854 P01715 UPI000173A2D0 tolerated(0.39) benign(0.018) 2/2 0.001033 0.002911 MODERATE 1 SNV PASS AGC . . 0.0007949 0.001658 0.001201 0.002323 0.0004667 0.0001346 0.0008413 0.000186 6.512e-05 22881259 IGLV3-1 . GRCh38 chr22 22881277 22881277 + Missense_Mutation SNP T T C rs573464772 7316-2156 BS_H9813KRS T T c.227T>C p.Ile76Thr p.I76T ENST00000390319 2/2 208 124 68 36 36 0 IGLV3-1,missense_variant,p.Ile76Thr,ENST00000390319,;MIR5571,upstream_gene_variant,,ENST00000577998,; C ENSG00000211673 ENST00000390319 Transcript missense_variant 279/398 227/346 76/115 I/T aTc/aCc rs573464772 1 1 IGLV3-1 HGNC HGNC:5896 IG_V_gene YES ENSP00000374854 P01715 UPI000173A2D0 deleterious(0.02) possibly_damaging(0.749) 2/2 0.0014 0.0023 0.001 0.0031 MODERATE 1 SNV PASS ATC . . 8.215e-06 5.805e-05 3.25e-05 22881277 SEZ6L . GRCh38 chr22 26169718 26169718 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.49T>G p.Phe17Val p.F17V ENST00000248933 1/17 95 73 17 33 33 0 SEZ6L,missense_variant,p.Phe17Val,ENST00000529632,NM_001184775.1;SEZ6L,missense_variant,p.Phe17Val,ENST00000360929,NM_001184776.1;SEZ6L,missense_variant,p.Phe17Val,ENST00000404234,NM_001184773.1;SEZ6L,missense_variant,p.Phe17Val,ENST00000248933,NM_021115.4;SEZ6L,missense_variant,p.Phe17Val,ENST00000629590,NM_001184774.1;SEZ6L,missense_variant,p.Phe17Val,ENST00000343706,NM_001184777.1;,regulatory_region_variant,,ENSR00000144585,; G ENSG00000100095 ENST00000248933 Transcript missense_variant 144/3248 49/3075 17/1024 F/V Ttc/Gtc 1 1 SEZ6L HGNC HGNC:10763 protein_coding YES CCDS13833.1 ENSP00000248933 Q9BYH1 UPI0000136779 NM_021115.4 tolerated_low_confidence(0.1) benign(0.011) 1/17 Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 26169718 SMTN . GRCh38 chr22 31095309 31095309 + Missense_Mutation SNP G G C rs3205187 7316-2156 BS_H9813KRS G G c.1894G>C p.Ala632Pro p.A632P ENST00000619644 13/21 124 113 8 33 33 0 SMTN,missense_variant,p.Ala603Pro,ENST00000612341,NM_001207018.1;SMTN,missense_variant,p.Ala547Pro,ENST00000333137,NM_134269.2;SMTN,missense_variant,p.Ala632Pro,ENST00000619644,NM_001207017.1;SMTN,missense_variant,p.Ala547Pro,ENST00000358743,NM_134270.2;SMTN,missense_variant,p.Ala547Pro,ENST00000347557,NM_006932.4;SMTN,missense_variant,p.Ala146Pro,ENST00000404574,;SMTN,missense_variant,p.Ala24Pro,ENST00000455608,;SMTN,upstream_gene_variant,,ENST00000624247,;SMTN,non_coding_transcript_exon_variant,,ENST00000460658,;SMTN,non_coding_transcript_exon_variant,,ENST00000489337,;SMTN,non_coding_transcript_exon_variant,,ENST00000493335,;SMTN,downstream_gene_variant,,ENST00000466272,;SMTN,upstream_gene_variant,,ENST00000472911,; C ENSG00000183963 ENST00000619644 Transcript missense_variant 1955/3227 1894/3009 632/1002 A/P Gca/Cca rs3205187,COSM4416748,COSM4416747,COSM4416746 1 1 SMTN HGNC HGNC:11126 protein_coding YES CCDS74845.1 ENSP00000484398 A0A087X1R1 UPI00020D8FA0 NM_001207017.1 tolerated(1) benign(0) 13/21 hmmpanther:PTHR45105,mobidb-lite,Low_complexity_(Seg):seg 0.4916 0.5159 0.5159 0.123 0.672 0.636 0.497 0.6636 0,1,1,1 25537509 MODERATE 1 SNV 2 0,1,1,1 PASS AGC . . 0.575 0.4993 0.475 0.6647 0.1126 0.5737 0.6645 0.6181 0.6215 31095309 RFPL3 . GRCh38 chr22 32360665 32360665 + Missense_Mutation SNP A A G rs201161881 7316-2156 BS_H9813KRS A A c.787A>G p.Ser263Gly p.S263G ENST00000249007 2/2 90 77 12 39 39 0 RFPL3,missense_variant,p.Ser263Gly,ENST00000249007,NM_001098535.1;RFPL3,missense_variant,p.Ser234Gly,ENST00000397468,NM_006604.2;RFPL3S,non_coding_transcript_exon_variant,,ENST00000400234,;RFPL3S,non_coding_transcript_exon_variant,,ENST00000382084,;RFPL3S,non_coding_transcript_exon_variant,,ENST00000461833,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,upstream_gene_variant,,ENST00000621921,;RF02171,upstream_gene_variant,,ENST00000617561,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,; G ENSG00000128276 ENST00000249007 Transcript missense_variant 992/1488 787/954 263/317 S/G Agt/Ggt rs201161881,COSM229391,COSM229390 1 1 RFPL3 HGNC HGNC:9980 protein_coding YES CCDS43011.1 ENSP00000249007 O75679 UPI000013CC68 NM_001098535.1 tolerated(0.21) benign(0) 2/2 PROSITE_profiles:PS50188,cd15821,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF240,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAG . . 0.005613 0.01596 0.002067 0.007698 0.0002381 0.006536 0.00687 0.003534 0.003811 32360665 RFPL3 . GRCh38 chr22 32360716 32360716 + Missense_Mutation SNP C C T rs73166367 7316-2156 BS_H9813KRS C C c.838C>T p.Arg280Cys p.R280C ENST00000249007 2/2 101 83 15 42 42 0 RFPL3,missense_variant,p.Arg280Cys,ENST00000249007,NM_001098535.1;RFPL3,missense_variant,p.Arg251Cys,ENST00000397468,NM_006604.2;RFPL3S,non_coding_transcript_exon_variant,,ENST00000400234,;RFPL3S,non_coding_transcript_exon_variant,,ENST00000382084,;RFPL3S,non_coding_transcript_exon_variant,,ENST00000461833,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,upstream_gene_variant,,ENST00000621921,;RF02171,upstream_gene_variant,,ENST00000617561,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,; T ENSG00000128276 ENST00000249007 Transcript missense_variant 1043/1488 838/954 280/317 R/C Cgc/Tgc rs73166367,COSM78412,COSM1415947 1 1 RFPL3 HGNC HGNC:9980 protein_coding YES CCDS43011.1 ENSP00000249007 O75679 UPI000013CC68 NM_001098535.1 tolerated(0.12) possibly_damaging(0.822) 2/2 PROSITE_profiles:PS50188,cd15821,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF240,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GCG . . 0.1621 0.2881 0.08538 0.1866 0.02736 0.1704 0.206 0.1454 0.1098 32360716 RPL3 . GRCh38 chr22 39317459 39317459 + Splice_Site SNP A A G rs879097107 7316-2156 BS_H9813KRS A A c.365+2T>C p.X122_splice ENST00000216146 124 101 17 42 40 1 RPL3,splice_donor_variant,,ENST00000216146,NM_001033853.1,NM_000967.3;RPL3,splice_donor_variant,,ENST00000401609,;RPL3,splice_donor_variant,,ENST00000402527,;RPL3,splice_donor_variant,,ENST00000427905,;RPL3,splice_donor_variant,,ENST00000453303,;SNORD83B,upstream_gene_variant,,ENST00000386745,;SNORD83A,upstream_gene_variant,,ENST00000386747,;SNORD43,downstream_gene_variant,,ENST00000583861,;RPL3,splice_donor_variant,,ENST00000465618,;RPL3,downstream_gene_variant,,ENST00000459859,;RPL3,upstream_gene_variant,,ENST00000471290,;RPL3,splice_donor_variant,,ENST00000420536,;RPL3,non_coding_transcript_exon_variant,,ENST00000484615,;RPL3,non_coding_transcript_exon_variant,,ENST00000460589,;RPL3,downstream_gene_variant,,ENST00000461967,;RPL3,upstream_gene_variant,,ENST00000464182,;RPL3,upstream_gene_variant,,ENST00000467105,;RPL3,upstream_gene_variant,,ENST00000473638,;RPL3,upstream_gene_variant,,ENST00000481985,;RPL3,upstream_gene_variant,,ENST00000484358,;RPL3,downstream_gene_variant,,ENST00000498462,; G ENSG00000100316 ENST00000216146 Transcript splice_donor_variant rs879097107 1 -1 RPL3 HGNC HGNC:10332 protein_coding YES CCDS13988.1 ENSP00000346001 P39023 UPI0000167B7E NM_001033853.1,NM_000967.3 3/9 HIGH 1 SNV 1 PASS TAC . . 39317459 CHADL . GRCh38 chr22 41238143 41238143 + Missense_Mutation SNP T T G novel 7316-2156 BS_H9813KRS T T c.929A>C p.Asn310Thr p.N310T ENST00000216241 3/6 83 65 14 26 26 0 CHADL,missense_variant,p.Asn310Thr,ENST00000216241,NM_138481.1;CHADL,missense_variant,p.Asn308Thr,ENST00000417999,;CHADL,intron_variant,,ENST00000455425,;,regulatory_region_variant,,ENSR00000146604,; G ENSG00000100399 ENST00000216241 Transcript missense_variant 982/2533 929/2289 310/762 N/T aAt/aCt 1 -1 CHADL HGNC HGNC:25165 protein_coding YES CCDS46715.1 ENSP00000216241 Q6NUI6 UPI00001C2057 NM_138481.1 deleterious(0) probably_damaging(1) 3/6 Gene3D:3.80.10.10,Pfam_domain:PF13855,PIRSF_domain:PIRSF037595,hmmpanther:PTHR44753,SMART_domains:SM00082,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS ATT . . 41238143 WBP2NL . GRCh38 chr22 42026818 42026818 + Nonsense_Mutation SNP C C A 7316-2156 BS_H9813KRS C C c.567C>A p.Tyr189Ter p.Y189* ENST00000328823 6/6 101 76 13 33 32 1 WBP2NL,stop_gained,p.Tyr189Ter,ENST00000328823,NM_152613.2;WBP2NL,stop_gained,p.Tyr115Ter,ENST00000543212,;WBP2NL,non_coding_transcript_exon_variant,,ENST00000475341,;WBP2NL,upstream_gene_variant,,ENST00000487176,;WBP2NL,stop_gained,p.Tyr189Ter,ENST00000329620,;WBP2NL,stop_gained,p.Tyr153Ter,ENST00000412113,;WBP2NL,stop_gained,p.Tyr189Ter,ENST00000436265,;WBP2NL,downstream_gene_variant,,ENST00000445185,;WBP2NL,upstream_gene_variant,,ENST00000470812,; A ENSG00000183066 ENST00000328823 Transcript stop_gained 598/2255 567/930 189/309 Y/* taC/taA COSM6233880 1 1 WBP2NL HGNC HGNC:28389 protein_coding YES CCDS14029.1 ENSP00000332983 Q6ICG8 UPI00001AF89A NM_152613.2 6/6 hmmpanther:PTHR31606,hmmpanther:PTHR31606:SF2,Low_complexity_(Seg):seg 1 HIGH 1 SNV 1 1 PASS ACG . . 42026818 CYP2D6 . GRCh38 chr22 42126611 42126611 + Missense_Mutation SNP C C G rs1135840 7316-2156 BS_H9813KRS C C c.1457G>C p.Ser486Thr p.S486T ENST00000360608 9/9 112 103 7 28 27 0 CYP2D6,missense_variant,p.Ser483Thr,ENST00000389970,;CYP2D6,missense_variant,p.Ser486Thr,ENST00000360608,;CYP2D6,missense_variant,p.Ser486Thr,ENST00000645508,NM_000106.5;CYP2D6,missense_variant,p.Ser486Thr,ENST00000645361,;CYP2D6,missense_variant,p.Ser435Thr,ENST00000359033,NM_001025161.2;NDUFA6-DT,intron_variant,,ENST00000439129,;NDUFA6-DT,downstream_gene_variant,,ENST00000417327,;NDUFA6-DT,downstream_gene_variant,,ENST00000434834,;NDUFA6-DT,downstream_gene_variant,,ENST00000451451,;NDUFA6-DT,downstream_gene_variant,,ENST00000536447,;NDUFA6-DT,downstream_gene_variant,,ENST00000595777,;NDUFA6-DT,downstream_gene_variant,,ENST00000600968,;NDUFA6-DT,downstream_gene_variant,,ENST00000610250,;NDUFA6-DT,downstream_gene_variant,,ENST00000617396,;CYP2D6,3_prime_UTR_variant,,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-DT,downstream_gene_variant,,ENST00000547929,;NDUFA6-DT,downstream_gene_variant,,ENST00000608643,;NDUFA6-DT,downstream_gene_variant,,ENST00000609499,;NDUFA6-DT,downstream_gene_variant,,ENST00000609833,; G ENSG00000100197 ENST00000360608 Transcript missense_variant 1572/1684 1457/1494 486/497 S/T aGc/aCc rs1135840,CM931123 1 -1 CYP2D6 HGNC HGNC:2625 protein_coding YES CCDS46721.1 ENSP00000353820 P10635 C1ID52 UPI000015772B tolerated(1) benign(0) 9/9 hmmpanther:PTHR24300:SF1,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264 0.5988 0.6762 0.4755 0.7044 0.5457 0.5276 benign,likely_benign 22424094,24944790,26858644,22552919,27110117,18698231,25419701,23133420,22482072,7903454,7927337,21790905,23207012,23985325,24798984,24868171,26793106,27636550,27785397,27228982,20548328,26316040,21154707,22722500,24357089,22395644,28018217,24786236,22718526,22395643,28046094,18632250,28378927,27904136,29263831,29390987 MODERATE 1 SNV 1 1,1 1 PASS GCT . . 42126611 MXRA5 . GRCh38 chrX 3317683 3317683 + Missense_Mutation SNP C C T rs1635242 7316-2156 BS_H9813KRS C C c.5998G>A p.Gly2000Ser p.G2000S ENST00000217939 6/7 67 56 10 11 11 0 MXRA5,missense_variant,p.Gly2000Ser,ENST00000217939,NM_015419.3;,regulatory_region_variant,,ENSR00000339518,; T ENSG00000101825 ENST00000217939 Transcript missense_variant 6153/9793 5998/8487 2000/2828 G/S Ggc/Agc rs1635242,COSM3759481,COSM3759480 1 -1 MXRA5 HGNC HGNC:7539 protein_coding YES CCDS14124.1 ENSP00000217939 Q9NR99 UPI000013C73B NM_015419.3 tolerated(0.4) benign(0.164) 6/7 Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR45546,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 0.6948 0.7099 0.6679 0.7382 0.6906 0.6518 0.6973 0.6452 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CCC . . 0.6707 0.6968 0.6901 0.6531 0.7692 0.6574 0.6499 0.6544 0.6651 3317683 MXRA5 . GRCh38 chrX 3322302 3322302 + Missense_Mutation SNP G G A rs1635246 7316-2156 BS_H9813KRS G G c.3383C>T p.Ala1128Val p.A1128V ENST00000217939 5/7 78 65 10 20 20 0 MXRA5,missense_variant,p.Ala1128Val,ENST00000217939,NM_015419.3; A ENSG00000101825 ENST00000217939 Transcript missense_variant 3538/9793 3383/8487 1128/2828 A/V gCa/gTa rs1635246,COSM3759484,COSM3759483 1 -1 MXRA5 HGNC HGNC:7539 protein_coding YES CCDS14124.1 ENSP00000217939 Q9NR99 UPI000013C73B NM_015419.3 tolerated(0.2) benign(0.001) 5/7 hmmpanther:PTHR45546,mobidb-lite,Low_complexity_(Seg):seg 0.5203 0.5892 0.5496 0.3599 0.6044 0.4833 0.5838 0.5718 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TGC . . 0.5428 0.5895 0.5236 0.547 0.3839 0.5345 0.5764 0.5344 0.5134 3322302 MXRA5 . GRCh38 chrX 3323215 3323215 + Missense_Mutation SNP T T C rs5983119 7316-2156 BS_H9813KRS T T c.2470A>G p.Ile824Val p.I824V ENST00000217939 5/7 71 62 7 12 12 0 MXRA5,missense_variant,p.Ile824Val,ENST00000217939,NM_015419.3; C ENSG00000101825 ENST00000217939 Transcript missense_variant 2625/9793 2470/8487 824/2828 I/V Att/Gtt rs5983119,COSM1467657,COSM1467656 1 -1 MXRA5 HGNC HGNC:7539 protein_coding YES CCDS14124.1 ENSP00000217939 Q9NR99 UPI000013C73B NM_015419.3 tolerated(1) benign(0) 5/7 hmmpanther:PTHR45546,Low_complexity_(Seg):seg 0.7499 0.9033 0.6908 0.7382 0.6945 0.6504 0.8761 0.6449 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ATA . . 0.6824 0.8794 0.6976 0.6411 0.7694 0.6563 0.6488 0.6639 0.6595 3323215 VCX3A . GRCh38 chrX 6533828 6533828 + Missense_Mutation SNP C C T rs35874450 7316-2156 BS_H9813KRS C C c.478G>A p.Val160Met p.V160M ENST00000381089 3/3 31 16 6 14 14 0 VCX3A,missense_variant,p.Val160Met,ENST00000381089,NM_016379.3;VCX3A,missense_variant,p.Val140Met,ENST00000398729,;VCX3A,intron_variant,,ENST00000612369,;,regulatory_region_variant,,ENSR00000339555,; T ENSG00000169059 ENST00000381089 Transcript missense_variant 785/995 478/561 160/186 V/M Gtg/Atg rs35874450,COSM4156972 1 -1 VCX3A HGNC HGNC:18159 protein_coding YES CCDS35199.1 ENSP00000370479 Q9NNX9 UPI0000138292 NM_016379.3 tolerated(0.19) benign(0.151) 3/3 Pfam_domain:PF15231,hmmpanther:PTHR15251,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF2,hmmpanther:PTHR15251:SF2,mobidb-lite,Low_complexity_(Seg):seg 0.1219 0.1615 0.1069 0.1073 0.0809 0.1365 benign 0,1 MODERATE 1 SNV 1 0,1 PASS ACC . . 0.02175 0.05493 0.005253 0.005122 0.01584 0.06304 0.02094 0.01499 0.00483 6533828 NR0B1 . GRCh38 chrX 30309153 30309153 + Missense_Mutation SNP T T C rs1337699275 7316-2156 BS_H9813KRS T T c.211A>G p.Lys71Glu p.K71E ENST00000378970 1/2 43 30 9 14 13 0 NR0B1,missense_variant,p.Lys71Glu,ENST00000378970,NM_000475.4;NR0B1,upstream_gene_variant,,ENST00000378963,; C ENSG00000169297 ENST00000378970 Transcript missense_variant 446/2021 211/1413 71/470 K/E Aaa/Gaa rs1337699275,COSM6287149,COSM6287148 1 -1 NR0B1 HGNC HGNC:7960 protein_coding YES CCDS14223.1 ENSP00000368253 P51843 F1D8P4 UPI0000128ED4 NM_000475.4 tolerated_low_confidence(1) benign(0) 1/2 hmmpanther:PTHR24081:SF1,hmmpanther:PTHR24081,Pfam_domain:PF14046 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS TTA . . 30309153 NR0B1 . GRCh38 chrX 30309157 30309157 + Nonsense_Mutation SNP G G T 7316-2156 BS_H9813KRS G G c.207C>A p.Cys69Ter p.C69* ENST00000378970 1/2 42 28 7 14 13 0 NR0B1,stop_gained,p.Cys69Ter,ENST00000378970,NM_000475.4;NR0B1,upstream_gene_variant,,ENST00000378963,; T ENSG00000169297 ENST00000378970 Transcript stop_gained 442/2021 207/1413 69/470 C/* tgC/tgA COSM6294040,COSM6294039,COSM5030506,COSM5030505 1 -1 NR0B1 HGNC HGNC:7960 protein_coding YES CCDS14223.1 ENSP00000368253 P51843 F1D8P4 UPI0000128ED4 NM_000475.4 1/2 hmmpanther:PTHR24081:SF1,hmmpanther:PTHR24081,Pfam_domain:PF14046 1,1,1,1 HIGH 1 SNV 1 1,1,1,1 1 PASS CGC . . 30309157 FAM47C . GRCh38 chrX 37009886 37009886 + Missense_Mutation SNP C C G rs1210447750 7316-2156 BS_H9813KRS C C c.1476C>G p.Asp492Glu p.D492E ENST00000358047 1/1 41 28 9 16 14 0 FAM47C,missense_variant,p.Asp492Glu,ENST00000358047,NM_001013736.2;,regulatory_region_variant,,ENSR00000340352,; G ENSG00000198173 ENST00000358047 Transcript missense_variant 1490/3270 1476/3108 492/1035 D/E gaC/gaG rs1210447750 1 1 FAM47C HGNC HGNC:25301 protein_coding YES CCDS35227.1 ENSP00000367913 Q5HY64 UPI000041ABF8 NM_001013736.2 tolerated_low_confidence(1) benign(0.005) 1/1 mobidb-lite,hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642,Pfam_domain:PF14642 MODERATE 1 SNV 1 PASS ACA . . 6.144e-06 6.009e-05 37009886 RPGR . GRCh38 chrX 38327338 38327338 + Splice_Site SNP A A C 7316-2156 BS_H9813KRS A A c.28+2T>G p.X10_splice ENST00000378505 69 59 6 14 14 0 RPGR,splice_donor_variant,,ENST00000318842,;RPGR,splice_donor_variant,,ENST00000339363,;RPGR,splice_donor_variant,,ENST00000378505,NM_001034853.1;RPGR,splice_donor_variant,,ENST00000642395,NM_000328.2;RPGR,splice_donor_variant,,ENST00000642558,;RPGR,splice_donor_variant,,ENST00000644238,;RPGR,splice_donor_variant,,ENST00000644337,;RPGR,splice_donor_variant,,ENST00000645032,;RPGR,splice_donor_variant,,ENST00000647261,;AF241726.2,intron_variant,,ENST00000465127,;RPGR,upstream_gene_variant,,ENST00000642170,;RPGR,splice_donor_variant,,ENST00000474584,;RPGR,splice_donor_variant,,ENST00000482855,;RPGR,splice_donor_variant,,ENST00000642373,;RPGR,splice_donor_variant,,ENST00000642739,;RPGR,splice_donor_variant,,ENST00000645124,;RPGR,splice_donor_variant,,ENST00000646020,;,regulatory_region_variant,,ENSR00000245722,; C ENSG00000156313 ENST00000378505 Transcript splice_donor_variant CS1212409 1 -1 RPGR HGNC HGNC:10295 protein_coding YES CCDS35229.1 ENSP00000367766 Q92834 UPI00005D3C95 NM_001034853.1 1/14 HIGH 1 SNV 5 1 1 PASS CAC . . 38327338 TIMP1 . GRCh38 chrX 47583405 47583405 + Splice_Region SNP C C G rs113800762 7316-2156 BS_H9813KRS C C c.-8-3C>G ENST00000218388 61 46 14 14 14 0 TIMP1,splice_region_variant,,ENST00000218388,NM_003254.2;TIMP1,splice_region_variant,,ENST00000441738,;TIMP1,splice_region_variant,,ENST00000456754,;SYN1,intron_variant,,ENST00000295987,NM_006950.3;SYN1,intron_variant,,ENST00000340666,NM_133499.2;TIMP1,intron_variant,,ENST00000377017,;TIMP1,upstream_gene_variant,,ENST00000445623,;MIR4769,upstream_gene_variant,,ENST00000584126,;,regulatory_region_variant,,ENSR00000246427,; G ENSG00000102265 ENST00000218388 Transcript splice_region_variant,intron_variant rs113800762 1 1 TIMP1 HGNC HGNC:11820 protein_coding YES CCDS14281.1 ENSP00000218388 P01033 Q6FGX5 UPI00001135B1 NM_003254.2 1/5 LOW 1 SNV 1 PASS ACA . . 47583405 CCNB3 . GRCh38 chrX 50311262 50311262 + Missense_Mutation SNP G G T 7316-2156 BS_H9813KRS G G c.3093G>T p.Leu1031Phe p.L1031F ENST00000376042 6/13 61 48 7 16 16 0 CCNB3,missense_variant,p.Leu1031Phe,ENST00000376042,;CCNB3,missense_variant,p.Leu1031Phe,ENST00000276014,NM_033031.2;CCNB3,intron_variant,,ENST00000348603,NM_033670.2;CCNB3,intron_variant,,ENST00000376038,;CCNB3,intron_variant,,ENST00000476167,; T ENSG00000147082 ENST00000376042 Transcript missense_variant 3391/4693 3093/4188 1031/1395 L/F ttG/ttT COSM3562158 1 1 CCNB3 HGNC HGNC:18709 protein_coding YES CCDS14331.1 ENSP00000365210 Q8WWL7 UPI000022DC76 deleterious(0.02) possibly_damaging(0.831) 6/13 hmmpanther:PTHR10177:SF214,hmmpanther:PTHR10177 1 MODERATE 1 SNV 2 1 PASS TGG . . 50311262 AR . GRCh38 chrX 67546297 67546297 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.1151A>C p.His384Pro p.H384P ENST00000374690 1/8 66 55 7 21 21 0 AR,missense_variant,p.His194Pro,ENST00000612452,;AR,missense_variant,p.His384Pro,ENST00000374690,NM_000044.3;AR,missense_variant,p.His384Pro,ENST00000396044,;AR,missense_variant,p.His384Pro,ENST00000612010,;AR,missense_variant,p.His384Pro,ENST00000504326,NM_001348061.1;AR,missense_variant,p.His384Pro,ENST00000613054,NM_001348064.1;AR,non_coding_transcript_exon_variant,,ENST00000513847,;AR,missense_variant,p.His384Pro,ENST00000514029,;,regulatory_region_variant,,ENSR00000246918,; C ENSG00000169083 ENST00000374690 Transcript missense_variant 2262/10652 1151/2763 384/920 H/P cAc/cCc 1 1 AR HGNC HGNC:644 protein_coding YES CCDS14387.1 ENSP00000363822 P10275 UPI0000167B08 NM_000044.3 tolerated_low_confidence(0.15) possibly_damaging(0.761) 1/8 Gene3D:2.130.10.10,Pfam_domain:PF02166,Prints_domain:PR00521,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF6,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAC . . 67546297 COL4A6 . GRCh38 chrX 108164695 108164695 + Missense_Mutation SNP A A C novel 7316-2156 BS_H9813KRS A A c.4025T>G p.Met1342Arg p.M1342R ENST00000394872 41/46 55 47 6 23 23 0 COL4A6,missense_variant,p.Met1342Arg,ENST00000394872,NM_001287758.1;COL4A6,missense_variant,p.Met1325Arg,ENST00000334504,NM_033641.3;COL4A6,missense_variant,p.Met1301Arg,ENST00000621266,NM_001287759.1;COL4A6,missense_variant,p.Met1326Arg,ENST00000372216,NM_001847.3;COL4A6,missense_variant,p.Met1313Arg,ENST00000545689,;COL4A6,intron_variant,,ENST00000538570,NM_001287760.1;COL4A6,upstream_gene_variant,,ENST00000487645,; C ENSG00000197565 ENST00000394872 Transcript missense_variant 4259/6750 4025/5124 1342/1707 M/R aTg/aGg 1 -1 COL4A6 HGNC HGNC:2208 protein_coding YES CCDS76010.1 ENSP00000378340 A8MXH5 UPI000387C996 NM_001287758.1 tolerated(0.35) possibly_damaging(0.777) 41/46 Gene3D:2.160.20.50,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF533,mobidb-lite MODERATE 1 SNV 5 1 PASS CAT . . 108164695 RBMXL3 . GRCh38 chrX 115192020 115192020 + Missense_Mutation SNP A A G 7316-2156 BS_H9813KRS A A c.2579A>G p.His860Arg p.H860R ENST00000424776 1/1 54 36 6 17 15 0 RBMXL3,missense_variant,p.His860Arg,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1; G ENSG00000175718 ENST00000424776 Transcript missense_variant 2594/3442 2579/3204 860/1067 H/R cAc/cGc COSM6209403 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.76) benign(0.01) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 1 MODERATE SNV 1 PASS CAC . . 115192020 GLUD2 . GRCh38 chrX 121048339 121048339 + Missense_Mutation SNP G G A rs770086797 7316-2156 BS_H9813KRS G G c.655G>A p.Val219Ile p.V219I ENST00000328078 1/1 67 54 11 15 15 0 GLUD2,missense_variant,p.Val219Ile,ENST00000328078,NM_012084.3; A ENSG00000182890 ENST00000328078 Transcript missense_variant 752/2493 655/1677 219/558 V/I Gtt/Att rs770086797,COSM4106281 1 1 GLUD2 HGNC HGNC:4336 protein_coding YES CCDS14603.1 ENSP00000327589 P49448 A0A140VK14 UPI0000129301 NM_012084.3 tolerated(1) benign(0.003) 1/1 hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,Gene3D:3.40.50.10860,Pfam_domain:PF02812,Superfamily_domains:SSF53223 0,1 MODERATE 1 SNV 0,1 1 PASS CGT . . 5.593e-06 3.762e-05 121048339 GLUD2 . GRCh38 chrX 121048364 121048364 + Missense_Mutation SNP A A G rs879031179 7316-2156 BS_H9813KRS A A c.680A>G p.Asn227Ser p.N227S ENST00000328078 1/1 64 50 11 15 15 0 GLUD2,missense_variant,p.Asn227Ser,ENST00000328078,NM_012084.3; G ENSG00000182890 ENST00000328078 Transcript missense_variant 777/2493 680/1677 227/558 N/S aAc/aGc rs879031179,COSM5620890 1 1 GLUD2 HGNC HGNC:4336 protein_coding YES CCDS14603.1 ENSP00000327589 P49448 A0A140VK14 UPI0000129301 NM_012084.3 tolerated(0.58) benign(0.006) 1/1 hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,Gene3D:3.40.50.10860,Pfam_domain:PF02812,Superfamily_domains:SSF53223 0,1 MODERATE 1 SNV 0,1 1 PASS AAC . . 121048364 GLUD2 . GRCh38 chrX 121048835 121048835 + Missense_Mutation SNP C C G rs878888756 7316-2156 BS_H9813KRS C C c.1151C>G p.Thr384Ser p.T384S ENST00000328078 1/1 75 56 17 15 15 0 GLUD2,missense_variant,p.Thr384Ser,ENST00000328078,NM_012084.3; G ENSG00000182890 ENST00000328078 Transcript missense_variant 1248/2493 1151/1677 384/558 T/S aCt/aGt rs878888756,COSM5620891 1 1 GLUD2 HGNC HGNC:4336 protein_coding YES CCDS14603.1 ENSP00000327589 P49448 A0A140VK14 UPI0000129301 NM_012084.3 tolerated(0.84) benign(0.009) 1/1 cd01076,hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,Pfam_domain:PF00208,Gene3D:3.40.50.720,SMART_domains:SM00839,Superfamily_domains:SSF51735 0,1 MODERATE 1 SNV 0,1 1 PASS ACT . . 121048835 GLUD2 . GRCh38 chrX 121048951 121048951 + Missense_Mutation SNP T T A rs1205814938 7316-2156 BS_H9813KRS T T c.1267T>A p.Leu423Met p.L423M ENST00000328078 1/1 75 66 8 15 15 0 GLUD2,missense_variant,p.Leu423Met,ENST00000328078,NM_012084.3; A ENSG00000182890 ENST00000328078 Transcript missense_variant 1364/2493 1267/1677 423/558 L/M Ttg/Atg rs1205814938,COSM5620892 1 1 GLUD2 HGNC HGNC:4336 protein_coding YES CCDS14603.1 ENSP00000327589 P49448 A0A140VK14 UPI0000129301 NM_012084.3 tolerated(0.26) benign(0.394) 1/1 cd01076,hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,Pfam_domain:PF00208,Gene3D:3.40.50.720,SMART_domains:SM00839,Superfamily_domains:SSF51735 0,1 MODERATE 1 SNV 0,1 1 PASS TTT . . 121048951 GLUD2 . GRCh38 chrX 121049086 121049086 + Missense_Mutation SNP C C A rs879144657 7316-2156 BS_H9813KRS C C c.1402C>A p.Leu468Met p.L468M ENST00000328078 1/1 60 54 5 21 21 0 GLUD2,missense_variant,p.Leu468Met,ENST00000328078,NM_012084.3; A ENSG00000182890 ENST00000328078 Transcript missense_variant 1499/2493 1402/1677 468/558 L/M Ctg/Atg rs879144657,COSM5620893 1 1 GLUD2 HGNC HGNC:4336 protein_coding YES CCDS14603.1 ENSP00000327589 P49448 A0A140VK14 UPI0000129301 NM_012084.3 tolerated(0.12) benign(0) 1/1 cd01076,hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,Gene3D:3.40.50.720,SMART_domains:SM00839,Superfamily_domains:SSF51735 0,1 MODERATE 1 SNV 0,1 1 PASS CCT . . 121049086 GLUD2 . GRCh38 chrX 121049172 121049172 + Missense_Mutation SNP T T G rs767002346 7316-2156 BS_H9813KRS T T c.1488T>G p.Ser496Arg p.S496R ENST00000328078 1/1 56 43 12 13 13 0 GLUD2,missense_variant,p.Ser496Arg,ENST00000328078,NM_012084.3; G ENSG00000182890 ENST00000328078 Transcript missense_variant 1585/2493 1488/1677 496/558 S/R agT/agG rs767002346,COSM5620894 1 1 GLUD2 HGNC HGNC:4336 protein_coding YES CCDS14603.1 ENSP00000327589 P49448 A0A140VK14 UPI0000129301 NM_012084.3 tolerated(1) benign(0) 1/1 cd01076,hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,Gene3D:3.40.50.720,SMART_domains:SM00839,Superfamily_domains:SSF51735 0,1 MODERATE 1 SNV 0,1 1 PASS GTA . . 121049172 GLUD2 . GRCh38 chrX 121049210 121049210 + Missense_Mutation SNP C C G rs1131121 7316-2156 BS_H9813KRS C C c.1526C>G p.Ala509Gly p.A509G ENST00000328078 1/1 62 44 14 15 14 0 GLUD2,missense_variant,p.Ala509Gly,ENST00000328078,NM_012084.3; G ENSG00000182890 ENST00000328078 Transcript missense_variant 1623/2493 1526/1677 509/558 A/G gCc/gGc rs1131121 1 1 GLUD2 HGNC HGNC:4336 protein_coding YES CCDS14603.1 ENSP00000327589 P49448 A0A140VK14 UPI0000129301 NM_012084.3 tolerated(1) benign(0) 1/1 cd01076,hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,Gene3D:3.40.50.720,SMART_domains:SM00839,Superfamily_domains:SSF51735 MODERATE 1 SNV 1 PASS GCC . . 121049210 GLUD2 . GRCh38 chrX 121049252 121049252 + Missense_Mutation SNP A A G rs778620218 7316-2156 BS_H9813KRS A A c.1568A>G p.His523Arg p.H523R ENST00000328078 1/1 59 48 9 15 15 0 GLUD2,missense_variant,p.His523Arg,ENST00000328078,NM_012084.3; G ENSG00000182890 ENST00000328078 Transcript missense_variant 1665/2493 1568/1677 523/558 H/R cAc/cGc rs778620218,COSM5620895 1 1 GLUD2 HGNC HGNC:4336 protein_coding YES CCDS14603.1 ENSP00000327589 P49448 A0A140VK14 UPI0000129301 NM_012084.3 tolerated(1) benign(0) 1/1 cd01076,hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,Gene3D:3.40.50.720,SMART_domains:SM00839,Superfamily_domains:SSF51735 0,1 MODERATE 1 SNV 0,1 1 PASS CAC . . 5.593e-06 5.224e-05 121049252 CT45A9 . GRCh38 chrX 135867898 135867898 + Missense_Mutation SNP T T G rs1233785396 7316-2156 BS_H9813KRS T T c.164A>C p.Glu55Ala p.E55A ENST00000620704 2/5 30 19 11 16 16 0 CT45A9,missense_variant,p.Glu55Ala,ENST00000620704,NM_001291540.2,NM_001321271.1;CT45A9,missense_variant,p.Glu55Ala,ENST00000604569,; G ENSG00000270946 ENST00000620704 Transcript missense_variant 409/1010 164/570 55/189 E/A gAa/gCa rs1233785396 1 -1 CT45A9 HGNC HGNC:51262 protein_coding YES CCDS76034.1 ENSP00000483637 P0DMV2 UPI000292EE09 NM_001291540.2,NM_001321271.1 tolerated(0.08) benign(0.186) 2/5 hmmpanther:PTHR12957,hmmpanther:PTHR12957:SF22 MODERATE 1 SNV 5 PASS TTC . . 135867898 FLNA . GRCh38 chrX 154350029 154350029 + Splice_Site SNP A A C rs112288356 7316-2156 BS_H9813KRS A A c.7333+2T>G p.X2445_splice ENST00000369850 47 41 6 16 16 0 FLNA,splice_donor_variant,,ENST00000360319,;FLNA,splice_donor_variant,,ENST00000369850,NM_001110556.1;FLNA,splice_donor_variant,,ENST00000369856,;FLNA,splice_donor_variant,,ENST00000422373,NM_001456.3;FLNA,splice_donor_variant,,ENST00000610817,;FLNA,downstream_gene_variant,,ENST00000438732,;FLNA,downstream_gene_variant,,ENST00000444578,;FLNA,splice_donor_variant,,ENST00000498491,;FLNA,intron_variant,,ENST00000498411,;FLNA,splice_donor_variant,,ENST00000420627,;FLNA,splice_donor_variant,,ENST00000490936,;FLNA,non_coding_transcript_exon_variant,,ENST00000462590,;FLNA,downstream_gene_variant,,ENST00000415241,;FLNA,downstream_gene_variant,,ENST00000466325,;FLNA,downstream_gene_variant,,ENST00000474072,;FLNA,downstream_gene_variant,,ENST00000474358,; C ENSG00000196924 ENST00000369850 Transcript splice_donor_variant rs112288356 1 -1 FLNA HGNC HGNC:3754 protein_coding YES CCDS48194.1 ENSP00000358866 P21333 UPI000013C596 NM_001110556.1 45/47 HIGH 1 SNV 1 1 PASS TAC . . 154350029 MT-ND5 . GRCh38 chrM 13018 13018 + Missense_Mutation SNP G G A novel 7316-2156 BS_H9813KRS G G c.682G>A p.Gly228Ser p.G228S ENST00000361567 1/1 23428 22049 491 5540 5424 5 MT-ND5,missense_variant,p.Gly228Ser,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,; A ENSG00000198786 ENST00000361567 Transcript missense_variant 682/1812 682/1812 228/603 G/S Ggt/Agt 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D deleterious_low_confidence(0.03) probably_damaging(0.999) 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF00361,Prints_domain:PR01434,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AGG . . 13018 SLC35E2A . GRCh38 chr1 1734736 1734736 + Missense_Mutation SNP C C T rs61777509 7316-111 BS_63JFFF51 C C c.686G>A p.Arg229His p.R229H ENST00000643905 5/6 51 43 8 28 27 0 SLC35E2A,missense_variant,p.Arg229His,ENST00000643905,NM_182838.2;SLC35E2A,missense_variant,p.Arg229His,ENST00000355439,NM_001199787.1;AL031282.2,non_coding_transcript_exon_variant,,ENST00000598846,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000647043,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000246421,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000475229,;AL031282.1,intron_variant,,ENST00000424604,;AL031282.1,intron_variant,,ENST00000577672,;AL031282.1,downstream_gene_variant,,ENST00000417099,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000643943,;AL031282.1,upstream_gene_variant,,ENST00000418950,; T ENSG00000215790 ENST00000643905 Transcript missense_variant 1109/6293 686/801 229/266 R/H cGt/cAt rs61777509,COSM4142977 1 -1 SLC35E2A HGNC HGNC:20863 protein_coding YES CCDS33.1 ENSP00000495949 UPI000006FA83 NM_182838.2 tolerated_low_confidence(0.23) possibly_damaging(0.477) 5/6 mobidb-lite,hmmpanther:PTHR44413,hmmpanther:PTHR44413:SF1 0,1 MODERATE SNV 0,1 PASS ACG . . 0.3075 0.08801 0.2931 0.3425 0.1221 0.4248 0.3581 0.3075 0.2544 1734736 LINC01356 . GRCh38 chr1 112840585 112840585 + Splice_Region SNP A A C rs34867834 7316-111 BS_63JFFF51 A A n.1062-5T>G ENST00000401018 55 40 8 15 15 0 LINC01356,splice_region_variant,,ENST00000401018,;LINC01356,splice_region_variant,,ENST00000449572,;LINC01356,intron_variant,,ENST00000433505,; C ENSG00000215866 ENST00000401018 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs34867834 1 -1 LINC01356 HGNC HGNC:50587 lincRNA YES 2/6 0.1130 0.2496 0.0677 0.0208 0.0845 0.0849 LOW 1 SNV 2 PASS CAA . . 112840585 PRG4 . GRCh38 chr1 186307262 186307262 + Missense_Mutation SNP T T G rs201070519 7316-111 BS_63JFFF51 T T c.1543T>G p.Ser515Ala p.S515A ENST00000445192 7/13 55 41 8 19 17 0 PRG4,missense_variant,p.Ser515Ala,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Ser474Ala,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Ser472Ala,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Ser422Ala,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Ser381Ala,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,; G ENSG00000116690 ENST00000445192 Transcript missense_variant 1588/5044 1543/4215 515/1404 S/A Tca/Gca rs201070519,COSM125576 1 1 PRG4 HGNC HGNC:9364 protein_coding YES CCDS1369.1 ENSP00000399679 Q92954 UPI0004620CBB NM_005807.4 tolerated(1) benign(0) 7/13 hmmpanther:PTHR22917,hmmpanther:PTHR22917,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,hmmpanther:PTHR22917:SF1,hmmpanther:PTHR22917:SF1,mobidb-lite,Low_complexity_(Seg):seg 0.0014 0.003 0.0041 0,1 MODERATE SNV 5 0,1 1 PASS TTC . . 0.001073 0.0008112 0.002454 0.0005819 0.001203 0.0001995 0.0003779 0.00217 0.003105 186307262 SLC41A3 . GRCh38 chr3 126006426 126006429 + Frame_Shift_Del DEL AACA - - rs111477552 7316-111 BS_63JFFF51 AACA AACA c.1502_1505del p.Leu501Ter p.L501* ENST00000315891 12/12 45 0 43 31 25 6 SLC41A3,frameshift_variant,p.Leu501Ter,ENST00000315891,NM_001008485.1;SLC41A3,frameshift_variant,p.Leu465Ter,ENST00000346785,NM_001008486.1;SLC41A3,3_prime_UTR_variant,,ENST00000383598,NM_001008487.1;SLC41A3,3_prime_UTR_variant,,ENST00000360370,NM_017836.3;SLC41A3,downstream_gene_variant,,ENST00000508835,NM_001164475.1;SLC41A3,non_coding_transcript_exon_variant,,ENST00000504118,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000512557,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000506102,; - ENSG00000114544 ENST00000315891 Transcript frameshift_variant 1741-1744/1797 1502-1505/1524 501-502/507 LL/X tTGTTa/ta rs111477552,COSM1579666 1 -1 SLC41A3 HGNC HGNC:31046 protein_coding YES CCDS33843.1 ENSP00000326070 Q96GZ6 UPI000013D523 NM_001008485.1 12/12 0.1715 0.1241 0.1326 0.1458 0.2187 0.2413 0.1245 0.2157 0,1 HIGH 1 deletion 1 0,1 PASS CTAACAA . . 0.1764 0.1323 0.1074 0.24 0.1464 0.1192 0.2012 0.1897 0.2196 126006425 EIF2A . GRCh38 chr3 150562658 150562658 + Missense_Mutation SNP C G G rs1132979 7316-111 BS_63JFFF51 C C c.290C>G p.Thr97Ser p.T97S ENST00000460851 4/14 39 1 38 29 24 3 EIF2A,missense_variant,p.Thr97Ser,ENST00000460851,NM_032025.4;EIF2A,missense_variant,p.Thr92Ser,ENST00000273435,NM_001319045.1;EIF2A,missense_variant,p.Thr72Ser,ENST00000487799,NM_001319043.1;EIF2A,missense_variant,p.Thr97Ser,ENST00000406576,NM_001319044.1;EIF2A,missense_variant,p.Thr97Ser,ENST00000482093,;SERP1,intron_variant,,ENST00000479209,;SERP1,intron_variant,,ENST00000491195,;SERP1,downstream_gene_variant,,ENST00000463647,;SERP1,downstream_gene_variant,,ENST00000484608,;SERP1,downstream_gene_variant,,ENST00000490945,;EIF2A,missense_variant,p.Thr89Ser,ENST00000477551,;EIF2A,splice_region_variant,,ENST00000474505,;EIF2A,splice_region_variant,,ENST00000462221,;EIF2A,splice_region_variant,,ENST00000490505,;EIF2A,non_coding_transcript_exon_variant,,ENST00000469331,;EIF2A,intron_variant,,ENST00000494558,;EIF2A,downstream_gene_variant,,ENST00000463863,;EIF2A,upstream_gene_variant,,ENST00000472926,; G ENSG00000144895 ENST00000460851 Transcript missense_variant,splice_region_variant 399/2198 290/1758 97/585 T/S aCt/aGt rs1132979,COSM4002486,COSM149497 1 1 EIF2A HGNC HGNC:3254 protein_coding YES CCDS46935.1 ENSP00000417229 Q9BY44 UPI00000473DB NM_032025.4 tolerated(0.4) benign(0.003) 4/14 Gene3D:2.130.10.10,PIRSF_domain:PIRSF017222,hmmpanther:PTHR13227,Superfamily_domains:SSF50978 0.3542 0.1611 0.3631 0.4861 0.3588 0.4683 0.169 0.3494 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ACT . . 0.3672 0.1659 0.3679 0.3595 0.4772 0.3495 0.3581 0.385 0.449 150562658 AC119751.7 . GRCh38 chr4 49548761 49548761 + Splice_Region SNP C C T rs201615934 7316-111 BS_63JFFF51 C C n.95G>A ENST00000600494 1/2 53 32 20 30 28 2 AC119751.7,splice_region_variant,,ENST00000600494,;MTCO3P42,downstream_gene_variant,,ENST00000509488,;AC119751.1,upstream_gene_variant,,ENST00000513357,; T ENSG00000268967 ENST00000600494 Transcript splice_region_variant,non_coding_transcript_exon_variant 95/245 rs201615934 1 -1 AC119751.7 Clone_based_ensembl_gene processed_pseudogene YES 1/2 LOW 1 SNV PASS ACA . . 49548761 AFP . GRCh38 chr4 73452403 73452403 + Splice_Region SNP T T A novel 7316-111 BS_63JFFF51 T T c.1431T>A p.Ala477= p.A477= ENST00000395792 12/15 105 56 45 46 45 0 AFP,splice_region_variant,p.Ala477=,ENST00000395792,NM_001134.2;AFP,splice_region_variant,p.Ala477=,ENST00000226359,;AFP,upstream_gene_variant,,ENST00000506820,;AFP,splice_region_variant,,ENST00000508838,;AFP,non_coding_transcript_exon_variant,,ENST00000514279,;,regulatory_region_variant,,ENSR00000169187,; A ENSG00000081051 ENST00000395792 Transcript splice_region_variant,synonymous_variant 1531/2484 1431/1830 477/609 A gcT/gcA 1 1 AFP HGNC HGNC:317 protein_coding YES CCDS3556.1 ENSP00000379138 P02771 UPI00000012A9 NM_001134.2 12/15 cd00015,Gene3D:1.10.246.10,PIRSF_domain:PIRSF002520,Pfam_domain:PF00273,SMART_domains:SM00103,Superfamily_domains:SSF48552,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF7 LOW 1 SNV 1 1 PASS CTG . . 73452403 FAM241A . GRCh38 chr4 112186689 112186689 + Splice_Region SNP A A T rs1290241001 7316-111 BS_63JFFF51 A A c.154-4A>T ENST00000309733 88 79 8 26 26 0 FAM241A,splice_region_variant,,ENST00000309733,NM_152400.2; T ENSG00000174749 ENST00000309733 Transcript splice_region_variant,intron_variant rs1290241001,COSM4328804 1 1 FAM241A HGNC HGNC:26813 protein_coding YES CCDS3695.1 ENSP00000310182 Q8N8J7 UPI000013EF13 NM_152400.2 1/1 0,1 LOW 1 SNV 1 0,1 PASS TAA . . 0.0006098 0.000741 0.001199 0.0007714 0.0008845 0.0001152 0.000561 0.0008762 0.0003499 112186689 MAP1B . GRCh38 chr5 72195454 72195454 + Missense_Mutation SNP T T A novel 7316-111 BS_63JFFF51 T T c.2099T>A p.Val700Asp p.V700D ENST00000296755 5/7 79 69 7 42 40 0 MAP1B,missense_variant,p.Val700Asp,ENST00000296755,NM_001324255.1,NM_005909.4;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,; A ENSG00000131711 ENST00000296755 Transcript missense_variant 2397/12036 2099/7407 700/2468 V/D gTt/gAt 1 1 MAP1B HGNC HGNC:6836 protein_coding YES CCDS4012.1 ENSP00000296755 P46821 UPI000013E382 NM_001324255.1,NM_005909.4 deleterious(0.01) benign(0.168) 5/7 hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 72195454 CMYA5 . GRCh38 chr5 79730924 79730924 + Missense_Mutation SNP C C T rs755372513 7316-111 BS_63JFFF51 C C c.2159C>T p.Pro720Leu p.P720L ENST00000446378 2/13 83 44 39 34 33 0 CMYA5,missense_variant,p.Pro720Leu,ENST00000446378,NM_153610.4; T ENSG00000164309 ENST00000446378 Transcript missense_variant 2190/12847 2159/12210 720/4069 P/L cCg/cTg rs755372513 1 1 CMYA5 HGNC HGNC:14305 protein_coding YES CCDS47238.1 ENSP00000394770 Q8N3K9 UPI00004F9478 NM_153610.4 deleterious(0.03) benign(0.01) 2/13 hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7 MODERATE 1 SNV 5 PASS CCG . . 2.849e-05 8.987e-06 0.0001949 79730924 C5orf60 . GRCh38 chr5 179643456 179643457 + Frame_Shift_Del DEL AA AA - rs1380176864 7316-111 BS_63JFFF51 AA AA c.314_315del p.Leu105ArgfsTer16 p.L105Rfs*16 ENST00000625191 3/6 77 58 13 35 35 0 C5orf60,frameshift_variant,p.Leu105ArgfsTer16,ENST00000625191,NM_001305388.1,NM_001142306.2;C5orf60,non_coding_transcript_exon_variant,,ENST00000506142,;C5orf60,frameshift_variant,p.Leu105ArgfsTer16,ENST00000512899,;C5orf60,3_prime_UTR_variant,,ENST00000513845,;C5orf60,non_coding_transcript_exon_variant,,ENST00000514664,;C5orf60,non_coding_transcript_exon_variant,,ENST00000511063,;C5orf60,downstream_gene_variant,,ENST00000503358,;C5orf60,downstream_gene_variant,,ENST00000513142,; - ENSG00000204661 ENST00000625191 Transcript frameshift_variant 340-341/1208 314-315/834 105/277 L/X cTT/c rs1380176864 1 -1 C5orf60 HGNC HGNC:27753 protein_coding YES ENSP00000493173 A6NFR6 UPI00004191D3 NM_001305388.1,NM_001142306.2 3/6 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF23 HIGH 1 deletion 1 PASS TCAAG . . 179643455 C5orf60 . GRCh38 chr5 179643460 179643461 + Frame_Shift_Ins INS - - GG rs1412986680 7316-111 BS_63JFFF51 - - c.310_311insCC p.Asn104ThrfsTer14 p.N104Tfs*14 ENST00000625191 3/6 78 59 13 36 35 0 C5orf60,frameshift_variant,p.Asn104ThrfsTer14,ENST00000625191,NM_001305388.1,NM_001142306.2;C5orf60,non_coding_transcript_exon_variant,,ENST00000506142,;C5orf60,frameshift_variant,p.Asn104ThrfsTer14,ENST00000512899,;C5orf60,3_prime_UTR_variant,,ENST00000513845,;C5orf60,non_coding_transcript_exon_variant,,ENST00000514664,;C5orf60,non_coding_transcript_exon_variant,,ENST00000511063,;C5orf60,downstream_gene_variant,,ENST00000503358,;C5orf60,downstream_gene_variant,,ENST00000513142,; GG ENSG00000204661 ENST00000625191 Transcript frameshift_variant 336-337/1208 310-311/834 104/277 N/TX aac/aCCac rs1412986680 1 -1 C5orf60 HGNC HGNC:27753 protein_coding YES ENSP00000493173 A6NFR6 UPI00004191D3 NM_001305388.1,NM_001142306.2 3/6 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF23 HIGH 1 insertion 1 PASS GTT . . 179643460 AL138720.1 . GRCh38 chr6 14997475 14997475 + Splice_Region SNP T C C rs6459385 7316-111 BS_63JFFF51 T T n.427A>G ENST00000437648 3/4 33 1 32 26 20 6 AL138720.1,splice_region_variant,,ENST00000437648,;AL138720.1,splice_region_variant,,ENST00000629853,; C ENSG00000234261 ENST00000437648 Transcript splice_region_variant,non_coding_transcript_exon_variant 427/1017 rs6459385 1 -1 AL138720.1 Clone_based_ensembl_gene lincRNA YES 3/4 0.7061 0.5968 0.6499 0.8413 0.6928 0.7679 LOW 1 SNV 5 PASS ATC . . 14997475 MUCL3 . GRCh38 chr6 30950611 30950611 + Missense_Mutation SNP T T C rs763365425 7316-111 BS_63JFFF51 T T c.2147T>C p.Leu716Pro p.L716P ENST00000462446 2/3 31 19 10 34 29 0 MUCL3,missense_variant,p.Leu783Pro,ENST00000636043,;MUCL3,missense_variant,p.Leu716Pro,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; C ENSG00000168631 ENST00000462446 Transcript missense_variant 2175/5314 2147/4182 716/1393 L/P cTa/cCa rs763365425,COSM5956822 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.16) benign(0) 2/3 mobidb-lite,hmmpanther:PTHR22094 0,1 MODERATE SNV 5 0,1 1 PASS CTA . . 5.148e-05 0.0003106 5.1e-05 5.586e-05 4.882e-05 30950611 PKHD1 . GRCh38 chr6 51856074 51856074 + Splice_Region SNP A G G rs7452724 7316-111 BS_63JFFF51 A A c.7734-4T>C ENST00000371117 41 1 40 31 23 7 PKHD1,splice_region_variant,,ENST00000340994,NM_170724.2;PKHD1,splice_region_variant,,ENST00000371117,NM_138694.3; G ENSG00000170927 ENST00000371117 Transcript splice_region_variant,intron_variant rs7452724 1 -1 PKHD1 HGNC HGNC:9016 protein_coding YES CCDS4935.1 ENSP00000360158 P08F94 UPI000013C4C0 NM_138694.3 48/66 0.5397 0.4539 0.5634 0.8393 0.3201 0.5562 0.424 0.3052 benign 25741868,23757202,26695994 LOW 1 SNV 1 1 1 PASS AAG . . 0.4445 0.4361 0.6571 0.2542 0.8698 0.4486 0.3149 0.3805 0.5174 51856074 RGS20 . GRCh38 chr8 53939673 53939673 + Missense_Mutation SNP G G A rs1201058709 7316-111 BS_63JFFF51 G G c.608G>A p.Arg203His p.R203H ENST00000297313 3/6 76 67 9 32 32 0 RGS20,missense_variant,p.Arg203His,ENST00000297313,NM_170587.3;RGS20,missense_variant,p.Arg88His,ENST00000344277,NM_001286673.1,NM_001286675.1;RGS20,missense_variant,p.Arg56His,ENST00000276500,NM_003702.4;RGS20,intron_variant,,ENST00000522225,NM_001286674.1;RGS20,non_coding_transcript_exon_variant,,ENST00000523414,;RGS20,non_coding_transcript_exon_variant,,ENST00000518286,;RGS20,intron_variant,,ENST00000517659,;RGS20,intron_variant,,ENST00000523280,; A ENSG00000147509 ENST00000297313 Transcript missense_variant 700/2104 608/1167 203/388 R/H cGc/cAc rs1201058709 1 1 RGS20 HGNC HGNC:14600 protein_coding YES CCDS6155.1 ENSP00000297313 O76081 UPI000013383C NM_170587.3 deleterious(0.05) benign(0.01) 3/6 hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF175 MODERATE 1 SNV 1 PASS CGC . . 5.451e-06 7.368e-05 53939673 PLEC . GRCh38 chr8 143927690 143927690 + Missense_Mutation SNP A A C 7316-111 BS_63JFFF51 A A c.3887T>G p.Val1296Gly p.V1296G ENST00000322810 27/32 97 85 8 52 52 0 PLEC,missense_variant,p.Val1296Gly,ENST00000322810,NM_201380.3;PLEC,missense_variant,p.Val1159Gly,ENST00000345136,NM_201384.2;PLEC,missense_variant,p.Val1186Gly,ENST00000436759,NM_000445.4;PLEC,missense_variant,p.Val1137Gly,ENST00000354958,NM_201379.2;PLEC,missense_variant,p.Val1159Gly,ENST00000354589,NM_201382.3;PLEC,missense_variant,p.Val1163Gly,ENST00000357649,NM_201383.2;PLEC,missense_variant,p.Val1145Gly,ENST00000356346,NM_201378.3;PLEC,missense_variant,p.Val1127Gly,ENST00000398774,NM_201381.2;PLEC,missense_variant,p.Val1182Gly,ENST00000527096,;PLEC,upstream_gene_variant,,ENST00000527303,;PLEC,downstream_gene_variant,,ENST00000528025,;,regulatory_region_variant,,ENSR00000232169,; C ENSG00000178209 ENST00000322810 Transcript missense_variant 4057/15249 3887/14055 1296/4684 V/G gTg/gGg COSM4388336,COSM4388337,COSM4388338,COSM4388339,COSM4388340,COSM4388341,COSM4946623 1 -1 PLEC HGNC HGNC:9069 protein_coding YES CCDS43772.1 ENSP00000323856 Q15149 UPI0000233FCD NM_201380.3 deleterious(0) possibly_damaging(0.674) 27/32 Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2,SMART_domains:SM00150,Superfamily_domains:SSF46966,cd00176 1,1,1,1,1,1,1 MODERATE 1 SNV 1 1,1,1,1,1,1,1 1 PASS CAC . . 143927690 PRSS3 . GRCh38 chr9 33796705 33796705 + Missense_Mutation SNP C C G rs149026348 7316-111 BS_63JFFF51 C C c.274C>G p.Leu92Val p.L92V ENST00000361005 2/5 58 41 17 58 56 2 PRSS3,missense_variant,p.Leu49Val,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Leu92Val,ENST00000361005,NM_007343.3;PRSS3,missense_variant,p.Leu35Val,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Leu28Val,ENST00000429677,NM_001197098.1;PRSS3,missense_variant,p.Leu47Val,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00000334924,; G ENSG00000010438 ENST00000361005 Transcript missense_variant 274/966 274/915 92/304 L/V Ctc/Gtc rs149026348,COSM4381953,COSM4381954,COSM4381955,COSM4381956 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 tolerated(1) benign(0.02) 2/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS TCT . . 33796705 ANKRD20A1 . GRCh38 chr9 67901012 67901012 + Missense_Mutation SNP G G A rs200972432 7316-111 BS_63JFFF51 G G c.2017G>A p.Ala673Thr p.A673T ENST00000562196 15/15 55 26 28 24 23 1 ANKRD20A1,missense_variant,p.Ala673Thr,ENST00000562196,NM_032250.3;ANKRD20A1,downstream_gene_variant,,ENST00000616155,;ANKRD20A1,downstream_gene_variant,,ENST00000622129,;BX649567.1,upstream_gene_variant,,ENST00000642071,; A ENSG00000260691 ENST00000562196 Transcript missense_variant 2297/3379 2017/2472 673/823 A/T Gcc/Acc rs200972432 1 1 ANKRD20A1 HGNC HGNC:23665 protein_coding YES CCDS6620.1 ENSP00000477695 Q5TYW2 UPI0000457755 NM_032250.3 tolerated(0.54) benign(0) 15/15 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1,Pfam_domain:PF14915,Gene3D:1.10.287.620 MODERATE 1 SNV 1 PASS TGC . . 0.2059 0.04658 0.3137 0.1902 0.2683 0.1221 0.2241 0.1879 0.1792 67901012 DGKZ . GRCh38 chr11 46347688 46347688 + Missense_Mutation SNP C C A rs76656670 7316-111 BS_63JFFF51 C C c.29C>A p.Ala10Asp p.A10D ENST00000456247 1/31 93 70 23 25 25 0 DGKZ,missense_variant,p.Ala10Asp,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala10Asp,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 117/3482 29/2787 10/928 A/D gCc/gAc rs76656670,COSM228548 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 tolerated_low_confidence(0.59) probably_damaging(0.991) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS GCC . . 0.3023 0.1359 0.2655 0.3276 0.1687 0.35 0.3649 0.3035 0.2366 46347688 DGKZ . GRCh38 chr11 46347717 46347717 + Missense_Mutation SNP G G A rs114974750 7316-111 BS_63JFFF51 G G c.58G>A p.Ala20Thr p.A20T ENST00000456247 1/31 97 79 17 25 25 0 DGKZ,missense_variant,p.Ala20Thr,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala20Thr,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,;,TF_binding_site_variant,,MA0062.2,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 146/3482 58/2787 20/928 A/T Gcc/Acc rs114974750,COSM4145731 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 deleterious_low_confidence(0.03) probably_damaging(0.982) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS CGC . . 0.4767 0.35 0.4856 0.4749 0.4896 0.4884 0.484 0.4752 0.4585 46347717 FRMD8 . GRCh38 chr11 65387104 65387104 + Missense_Mutation SNP C C A novel 7316-111 BS_63JFFF51 C C c.68C>A p.Ser23Tyr p.S23Y ENST00000317568 2/11 80 41 37 43 42 0 FRMD8,missense_variant,p.Ser23Tyr,ENST00000317568,NM_031904.3;FRMD8,missense_variant,p.Ser23Tyr,ENST00000355991,NM_001300832.1;FRMD8,missense_variant,p.Ser23Tyr,ENST00000416776,NM_001300833.1;FRMD8,missense_variant,p.Ser23Tyr,ENST00000533782,;FRMD8,missense_variant,p.Ser23Tyr,ENST00000526201,;FRMD8,missense_variant,p.Ser23Tyr,ENST00000525156,;FRMD8,missense_variant,p.Ser23Tyr,ENST00000531296,;SLC25A45,upstream_gene_variant,,ENST00000294187,NM_001278251.2,NM_001077241.2;SLC25A45,upstream_gene_variant,,ENST00000398802,NM_182556.3;SLC25A45,upstream_gene_variant,,ENST00000530936,;SLC25A45,upstream_gene_variant,,ENST00000534028,NM_001278250.2;FRMD8,non_coding_transcript_exon_variant,,ENST00000528854,;SLC25A45,upstream_gene_variant,,ENST00000524438,;SLC25A45,upstream_gene_variant,,ENST00000526898,;SLC25A45,upstream_gene_variant,,ENST00000529431,;SLC25A45,upstream_gene_variant,,ENST00000529962,;SLC25A45,upstream_gene_variant,,ENST00000531791,;SLC25A45,upstream_gene_variant,,ENST00000533629,;,regulatory_region_variant,,ENSR00000040827,; A ENSG00000126391 ENST00000317568 Transcript missense_variant 231/3723 68/1395 23/464 S/Y tCc/tAc 1 1 FRMD8 HGNC HGNC:25462 protein_coding YES CCDS8102.1 ENSP00000319726 Q9BZ67 UPI000000DAAC NM_031904.3 deleterious(0) probably_damaging(0.986) 2/11 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TCC . . 65387104 LRP5 . GRCh38 chr11 68312747 68312749 + In_Frame_Del DEL GCT GCT - rs1211056897 7316-111 BS_63JFFF51 GCT GCT c.58_60del p.Leu20del p.L20del ENST00000294304 1/23 65 47 7 6 4 0 LRP5,inframe_deletion,p.Leu20del,ENST00000294304,NM_001291902.1,NM_002335.3;LRP5,inframe_deletion,p.Leu20del,ENST00000529993,;,regulatory_region_variant,,ENSR00000041212,; - ENSG00000162337 ENST00000294304 Transcript inframe_deletion 139-141/5159 33-35/4848 11-12/1615 PL/P ccGCTg/ccg rs1211056897,TMP_ESP_11_68080215_68080217,COSM1719399 1 1 LRP5 HGNC HGNC:6697 protein_coding YES CCDS8181.1 ENSP00000294304 O75197 UPI0000073246 NM_001291902.1,NM_002335.3 1/23 PIRSF_domain:PIRSF036314,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0.02632 0.04598 0,0,1 MODERATE 1 deletion 1 25 0,0,1 1 PASS CCGCTG . . 0.05897 0.03774 0.05026 0.0596 0.0875 0.06601 0.05965 0.05037 0.06325 68312746 KRT80 . GRCh38 chr12 52171721 52171721 + Splice_Region SNP T T G rs1172668590 7316-111 BS_63JFFF51 T T c.1179-8A>C ENST00000394815 60 47 7 19 17 0 KRT80,splice_region_variant,,ENST00000313234,NM_001081492.1;KRT80,splice_region_variant,,ENST00000394815,NM_182507.2;LINC00592,intron_variant,,ENST00000640420,;KRT80,splice_region_variant,,ENST00000466011,; G ENSG00000167767 ENST00000394815 Transcript splice_region_variant,intron_variant rs1172668590 1 -1 KRT80 HGNC HGNC:27056 protein_coding YES CCDS8821.2 ENSP00000378292 Q6KB66 UPI0000160118 NM_182507.2 7/8 LOW 1 SNV 1 PASS GTG . . 0.002626 0.001727 0.005994 0.001057 0.003565 0.005141 0.002081 0.005566 0.001328 52171721 LRRIQ1 . GRCh38 chr12 85055798 85055798 + Missense_Mutation SNP T T A 7316-111 BS_63JFFF51 T T c.1005T>A p.Asn335Lys p.N335K ENST00000393217 8/27 75 64 7 28 28 0 LRRIQ1,missense_variant,p.Asn335Lys,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,; A ENSG00000133640 ENST00000393217 Transcript missense_variant 1066/5394 1005/5169 335/1722 N/K aaT/aaA COSM6377568,COSM6377567 1 1 LRRIQ1 HGNC HGNC:25708 protein_coding YES CCDS41816.1 ENSP00000376910 Q96JM4 A0A140VJN5 UPI0000ED4E82 NM_001079910.1 tolerated(1) benign(0) 8/27 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR45596,Gene3D:3.80.10.10 1,1 MODERATE 1 SNV 1 1,1 PASS ATC . . 85055798 CHD8 . GRCh38 chr14 21385866 21385866 + Missense_Mutation SNP T T G rs1174920611 7316-111 BS_63JFFF51 T T c.7493A>C p.His2498Pro p.H2498P ENST00000646647 38/38 53 36 13 21 19 0 CHD8,missense_variant,p.His2498Pro,ENST00000646647,;CHD8,missense_variant,p.His2498Pro,ENST00000643469,;CHD8,missense_variant,p.His2498Pro,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.His2498Pro,ENST00000557364,;CHD8,missense_variant,p.His2219Pro,ENST00000430710,NM_020920.3;CHD8,missense_variant,p.His2219Pro,ENST00000645929,;CHD8,missense_variant,p.His1732Pro,ENST00000555935,;CHD8,missense_variant,p.His289Pro,ENST00000553870,;SUPT16H,upstream_gene_variant,,ENST00000216297,NM_007192.3;SUPT16H,upstream_gene_variant,,ENST00000555943,;AL135744.1,downstream_gene_variant,,ENST00000565098,;CHD8,non_coding_transcript_exon_variant,,ENST00000645206,;CHD8,non_coding_transcript_exon_variant,,ENST00000557727,;SUPT16H,upstream_gene_variant,,ENST00000555752,;SUPT16H,upstream_gene_variant,,ENST00000556217,;SUPT16H,upstream_gene_variant,,ENST00000556309,;SUPT16H,upstream_gene_variant,,ENST00000557652,; G ENSG00000100888 ENST00000646647 Transcript missense_variant 7803/8471 7493/7746 2498/2581 H/P cAc/cCc rs1174920611,COSM6403148,COSM6403147 1 -1 CHD8 HGNC HGNC:20153 protein_coding YES CCDS53885.1 ENSP00000495240 UPI00002375B9 tolerated_low_confidence(0.19) probably_damaging(0.924) 38/38 mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE SNV 0,1,1 1 PASS GTG . . 2.081e-05 1.81e-05 9.077e-05 21385866 G2E3 . GRCh38 chr14 30608077 30608077 + Splice_Region SNP A A G rs779226700 7316-111 BS_63JFFF51 A A c.1500+8A>G ENST00000206595 71 21 49 30 30 0 G2E3,splice_region_variant,,ENST00000206595,NM_017769.4;G2E3,splice_region_variant,,ENST00000438909,NM_001308097.1;G2E3,splice_region_variant,,ENST00000553504,;G2E3,downstream_gene_variant,,ENST00000552515,;G2E3,downstream_gene_variant,,ENST00000544007,;G2E3,downstream_gene_variant,,ENST00000547638,;G2E3,intron_variant,,ENST00000548934,;G2E3,upstream_gene_variant,,ENST00000549159,; G ENSG00000092140 ENST00000206595 Transcript splice_region_variant,intron_variant rs779226700 1 1 G2E3 HGNC HGNC:20338 protein_coding YES CCDS9638.1 ENSP00000206595 Q7L622 UPI000013F3A8 NM_017769.4 12/14 LOW 1 SNV 1 PASS AAT . . 5.358e-06 7.389e-05 30608077 TTC6 . GRCh38 chr14 37739008 37739008 + Missense_Mutation SNP T T G novel 7316-111 BS_63JFFF51 T T c.2216T>G p.Leu739Trp p.L739W ENST00000553443 10/31 94 52 41 30 30 0 TTC6,missense_variant,p.Leu739Trp,ENST00000553443,NM_001310135.1;TTC6,3_prime_UTR_variant,,ENST00000533625,; G ENSG00000139865 ENST00000553443 Transcript missense_variant 2216/5833 2216/5661 739/1886 L/W tTg/tGg 1 1 TTC6 HGNC HGNC:19739 protein_coding ENSP00000451131 G3V3A5 UPI00021CF1B4 NM_001310135.1 deleterious(0.02) possibly_damaging(0.842) 10/31 MODERATE SNV 5 PASS TTG . . 37739008 TTC6 . GRCh38 chr14 37739046 37739046 + Missense_Mutation SNP T T C novel 7316-111 BS_63JFFF51 T T c.2254T>C p.Tyr752His p.Y752H ENST00000553443 10/31 103 59 44 30 30 0 TTC6,missense_variant,p.Tyr752His,ENST00000553443,NM_001310135.1;TTC6,3_prime_UTR_variant,,ENST00000533625,; C ENSG00000139865 ENST00000553443 Transcript missense_variant 2254/5833 2254/5661 752/1886 Y/H Tac/Cac 1 1 TTC6 HGNC HGNC:19739 protein_coding ENSP00000451131 G3V3A5 UPI00021CF1B4 NM_001310135.1 tolerated(0.07) possibly_damaging(0.815) 10/31 MODERATE SNV 5 PASS TTA . . 37739046 GOLGA6L6 . GRCh38 chr15 20535442 20535442 + Missense_Mutation SNP A A T rs1368007214 7316-111 BS_63JFFF51 A A c.992T>A p.Met331Lys p.M331K ENST00000619213 8/9 105 83 16 37 35 0 GOLGA6L6,missense_variant,p.Met331Lys,ENST00000619213,NM_001145004.2; T ENSG00000277322 ENST00000619213 Transcript missense_variant 1083/4013 992/2175 331/724 M/K aTg/aAg rs1368007214 1 -1 GOLGA6L6 HGNC HGNC:37225 protein_coding YES CCDS45184.1 ENSP00000480376 A8MZA4 UPI000442CF04 NM_001145004.2 tolerated(0.93) benign(0) 8/9 mobidb-lite,Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF20 MODERATE 1 SNV 5 PASS CAT . . 0.3649 0.2632 0.4583 0.5 0.4167 0.3462 0.5 0.3889 20535442 MYO5A . GRCh38 chr15 52336517 52336517 + Missense_Mutation SNP G G A rs370782709 7316-111 BS_63JFFF51 G G c.4279C>T p.Arg1427Cys p.R1427C ENST00000399231 33/41 95 51 44 31 31 0 MYO5A,missense_variant,p.Arg1427Cys,ENST00000399231,NM_000259.3;MYO5A,missense_variant,p.Arg1427Cys,ENST00000358212,;MYO5A,missense_variant,p.Arg1427Cys,ENST00000399233,;MYO5A,missense_variant,p.Arg1400Cys,ENST00000613858,;MYO5A,missense_variant,p.Arg1400Cys,ENST00000356338,NM_001142495.1;MYO5A,missense_variant,p.Arg1425Cys,ENST00000553916,;MYO5A,missense_variant,p.Arg157Cys,ENST00000399229,;MYO5A,downstream_gene_variant,,ENST00000399228,;MYO5A,downstream_gene_variant,,ENST00000568914,; A ENSG00000197535 ENST00000399231 Transcript missense_variant 4523/12225 4279/5568 1427/1855 R/C Cgt/Tgt rs370782709 1 -1 MYO5A HGNC HGNC:7602 protein_coding YES CCDS42037.1 ENSP00000382177 Q9Y4I1 UPI0000E445E1 NM_000259.3 deleterious(0) probably_damaging(0.973) 33/41 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF273,hmmpanther:PTHR13140,Gene3D:1.20.5.50 0.0001231 MODERATE 1 SNV 1 1 PASS CGG . . 2.097e-05 4.676e-05 52336517 SULT1A1 . GRCh38 chr16 28608704 28608704 + Splice_Region SNP T T C rs12924616 7316-111 BS_63JFFF51 T T c.148+4A>G ENST00000395609 40 32 7 21 21 0 SULT1A1,splice_region_variant,,ENST00000314752,NM_001055.3,NM_177529.2;SULT1A1,splice_region_variant,,ENST00000395607,NM_177534.2,NM_177530.2;SULT1A1,splice_region_variant,,ENST00000395609,;SULT1A1,splice_region_variant,,ENST00000566189,;SULT1A1,splice_region_variant,,ENST00000567512,;SULT1A1,splice_region_variant,,ENST00000569554,;SULT1A1,intron_variant,,ENST00000350842,NM_177536.3;SULT1A1,splice_region_variant,,ENST00000562058,;SULT1A1,splice_region_variant,,ENST00000563493,;SULT1A1,splice_region_variant,,ENST00000564818,;SULT1A1,non_coding_transcript_exon_variant,,ENST00000567998,;AC020765.4,downstream_gene_variant,,ENST00000621738,;AC020765.5,downstream_gene_variant,,ENST00000645962,; C ENSG00000196502 ENST00000395609 Transcript splice_region_variant,intron_variant rs12924616,COSM5019228 1 -1 SULT1A1 HGNC HGNC:11453 protein_coding YES CCDS32420.1 ENSP00000378972 P50225 UPI000013EA41 4/9 0,1 LOW 1 SNV 1 0,1 PASS CTT . . 0.008063 0.0008 0.008016 0.03101 0.0007002 0.01029 0.009266 0.01103 0.003497 28608704 TRIM72 . GRCh38 chr16 31222819 31222819 + Splice_Region SNP A A C rs778799895 7316-111 BS_63JFFF51 A A c.741-8A>C ENST00000322122 53 34 12 16 14 0 TRIM72,splice_region_variant,,ENST00000322122,NM_001008274.3;TRIM72,splice_region_variant,,ENST00000613872,; C ENSG00000177238 ENST00000322122 Transcript splice_region_variant,intron_variant rs778799895 1 1 TRIM72 HGNC HGNC:32671 protein_coding YES CCDS32437.1 ENSP00000312675 Q6ZMU5 UPI00001FFF74 NM_001008274.3 5/6 LOW 1 SNV 2 PASS CAC . . 0.04382 0.0336 0.05259 0.034 0.02584 0.102 0.03074 0.04184 0.05097 31222819 CES1 . GRCh38 chr16 55819569 55819569 + Missense_Mutation SNP G G A rs202001817 7316-111 BS_63JFFF51 G G c.872C>T p.Thr291Met p.T291M ENST00000360526 7/14 67 61 6 35 35 0 CES1,missense_variant,p.Thr290Met,ENST00000422046,NM_001266.4;CES1,missense_variant,p.Thr291Met,ENST00000360526,NM_001025195.1;CES1,missense_variant,p.Thr290Met,ENST00000361503,NM_001025194.1;CES1,downstream_gene_variant,,ENST00000566555,;CES1,missense_variant,p.Thr5Met,ENST00000569260,;CES1,downstream_gene_variant,,ENST00000563005,;CES1,downstream_gene_variant,,ENST00000565403,; A ENSG00000198848 ENST00000360526 Transcript missense_variant 975/2006 872/1707 291/568 T/M aCg/aTg rs202001817,COSM4129124 1 -1 CES1 HGNC HGNC:1863 protein_coding YES CCDS32450.1 ENSP00000353720 P23141 UPI000054B390 NM_001025195.1 deleterious(0.03) possibly_damaging(0.466) 7/14 Low_complexity_(Seg):seg,cd00312,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF361,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474 0.0134 0.0121 0.0187 0.001 0.0089 0.0286 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 0.0003822 0.000332 2.986e-05 0.0001025 0.0001162 0.00039 0.0002303 0.001628 55819569 GINS3 . GRCh38 chr16 58395096 58395096 + Splice_Region SNP A A T novel 7316-111 BS_63JFFF51 A A c.187-6A>T ENST00000426538 66 48 7 40 37 0 GINS3,splice_region_variant,,ENST00000426538,NM_001126129.1;GINS3,intron_variant,,ENST00000318129,NM_022770.3;GINS3,intron_variant,,ENST00000328514,NM_001126130.1;AC009118.2,upstream_gene_variant,,ENST00000613275,;GINS3,downstream_gene_variant,,ENST00000564814,;GINS3,downstream_gene_variant,,ENST00000567909,; T ENSG00000181938 ENST00000426538 Transcript splice_region_variant,intron_variant 1 1 GINS3 HGNC HGNC:25851 protein_coding YES CCDS45498.1 ENSP00000401018 Q9BRX5 A0A0S2Z5P2 UPI00001FF2F1 NM_001126129.1 1/3 LOW 1 SNV 1 PASS GAG . . 58395096 KRTAP4-16 . GRCh38 chr17 41101746 41101746 + Missense_Mutation SNP T T G rs1215386394 7316-111 BS_63JFFF51 T T c.464A>C p.His155Pro p.H155P ENST00000440582 1/1 61 43 14 21 20 0 KRTAP4-16,missense_variant,p.His155Pro,ENST00000440582,;KRTAP4-8,upstream_gene_variant,,ENST00000318329,;KRTAP4-8,upstream_gene_variant,,ENST00000333822,NM_031960.2;KRTAP4-9,upstream_gene_variant,,ENST00000391415,NM_001146041.1;KRTAP4-9,upstream_gene_variant,,ENST00000617453,; G ENSG00000241241 ENST00000440582 Transcript missense_variant 464/708 464/708 155/235 H/P cAc/cCc rs1215386394 1 -1 KRTAP4-16 HGNC HGNC:18921 protein_coding YES ENSP00000411198 G5E9R7 UPI0000E59F68 deleterious(0) unknown(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF37 MODERATE 1 SNV PASS GTG . . 2.656e-05 9.984e-05 3.454e-05 4.383e-05 41101746 SKOR2 . GRCh38 chr18 47247181 47247181 + Missense_Mutation SNP T T G rs996299085 7316-111 BS_63JFFF51 T T c.2003A>C p.His668Pro p.H668P ENST00000425639 2/9 61 43 13 29 28 1 SKOR2,missense_variant,p.His668Pro,ENST00000425639,;SKOR2,missense_variant,p.His668Pro,ENST00000620245,NM_001278063.1;SKOR2,intron_variant,,ENST00000400404,NM_001037802.1; G ENSG00000215474 ENST00000425639 Transcript missense_variant 2280/3899 2003/3048 668/1015 H/P cAc/cCc rs996299085 1 -1 SKOR2 HGNC HGNC:32695 protein_coding YES CCDS74222.1 ENSP00000414750 A0A087X0E6 UPI0002742DD5 tolerated_low_confidence(0.17) benign(0) 2/9 hmmpanther:PTHR10005,hmmpanther:PTHR10005:SF7,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 0.0002923 0.008547 0.0003726 47247181 LILRB3 . GRCh38 chr19 54221229 54221229 + Missense_Mutation SNP T T C rs1344882806 7316-111 BS_63JFFF51 T T c.809A>G p.Gln270Arg p.Q270R ENST00000245620 5/13 70 60 9 61 61 0 LILRB3,missense_variant,p.Gln270Arg,ENST00000391750,NM_001320960.1,NM_006864.3;LILRB3,missense_variant,p.Gln270Arg,ENST00000346401,;LILRB3,missense_variant,p.Gln270Arg,ENST00000245620,NM_001081450.2;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,;,regulatory_region_variant,,ENSR00000111471,; C ENSG00000204577 ENST00000245620 Transcript missense_variant 811/2066 809/1899 270/632 Q/R cAg/cGg rs1344882806 1 -1 LILRB3 HGNC HGNC:6607 protein_coding YES CCDS46175.1 ENSP00000245620 O75022 UPI00034F2393 NM_001081450.2 tolerated(1) benign(0) 5/13 Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CTG . . 54221229 LILRB3 . GRCh38 chr19 54221256 54221256 + Missense_Mutation SNP T T C rs1292929626 7316-111 BS_63JFFF51 T T c.782A>G p.Glu261Gly p.E261G ENST00000245620 5/13 73 62 9 59 59 0 LILRB3,missense_variant,p.Glu261Gly,ENST00000391750,NM_001320960.1,NM_006864.3;LILRB3,missense_variant,p.Glu261Gly,ENST00000346401,;LILRB3,missense_variant,p.Glu261Gly,ENST00000245620,NM_001081450.2;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,;,regulatory_region_variant,,ENSR00000111471,; C ENSG00000204577 ENST00000245620 Transcript missense_variant 784/2066 782/1899 261/632 E/G gAa/gGa rs1292929626 1 -1 LILRB3 HGNC HGNC:6607 protein_coding YES CCDS46175.1 ENSP00000245620 O75022 UPI00034F2393 NM_001081450.2 tolerated(1) benign(0) 5/13 Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS TTC . . 54221256 PCED1A . GRCh38 chr20 2839089 2839089 + Splice_Region SNP A A C rs916407862 7316-111 BS_63JFFF51 A A c.205-7T>G ENST00000360652 64 29 9 32 15 0 PCED1A,splice_region_variant,,ENST00000360652,NM_022760.4;PCED1A,splice_region_variant,,ENST00000439542,;PCED1A,intron_variant,,ENST00000356872,NM_001271168.1;PCED1A,intron_variant,,ENST00000448755,;VPS16,upstream_gene_variant,,ENST00000380445,NM_022575.3;VPS16,upstream_gene_variant,,ENST00000380469,NM_080413.2;VPS16,upstream_gene_variant,,ENST00000417508,;VPS16,upstream_gene_variant,,ENST00000453689,;PCED1A,upstream_gene_variant,,ENST00000474714,;PCED1A,upstream_gene_variant,,ENST00000487501,; C ENSG00000132635 ENST00000360652 Transcript splice_region_variant,intron_variant rs916407862,COSM1615430 1 -1 PCED1A HGNC HGNC:16212 protein_coding YES CCDS13035.1 ENSP00000353868 Q9H1Q7 UPI00001285EE NM_022760.4 3/7 0,1 LOW 1 SNV 1 0,1 PASS CAC . . 0.03093 0.01541 0.005497 0.009191 0.00998 0.07959 0.0461 0.02417 0.005153 2839089 GRIK1 . GRCh38 chr21 29689871 29689871 + Missense_Mutation SNP C C T rs750056676 7316-111 BS_63JFFF51 C C c.401G>A p.Arg134His p.R134H ENST00000327783 3/18 64 37 27 28 28 0 GRIK1,missense_variant,p.Arg134His,ENST00000399914,NM_001330993.1;GRIK1,missense_variant,p.Arg134His,ENST00000399907,NM_000830.4;GRIK1,missense_variant,p.Arg134His,ENST00000399909,;GRIK1,missense_variant,p.Arg134His,ENST00000399913,NM_001320616.1;GRIK1,missense_variant,p.Arg134His,ENST00000327783,;GRIK1,missense_variant,p.Arg134His,ENST00000389125,NM_001320618.1,NM_001320621.1,NM_175611.2;GRIK1,missense_variant,p.Arg134His,ENST00000389124,;GRIK1,non_coding_transcript_exon_variant,,ENST00000472429,NM_001320630.1; T ENSG00000171189 ENST00000327783 Transcript missense_variant 433/3179 401/2850 134/949 R/H cGc/cAc rs750056676,COSM4971261,COSM4971260,COSM4971259 1 -1 GRIK1 HGNC HGNC:4579 protein_coding YES CCDS82659.1 ENSP00000327687 E7ENK3 UPI0000E5A39C tolerated(0.13) benign(0.015) 3/18 Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36,Superfamily_domains:SSF53822 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS GCG . . 2.437e-05 0.0001307 3.583e-05 29689871 IGLV5-45 . GRCh38 chr22 22376250 22376250 + Missense_Mutation SNP T T A rs61731379 7316-111 BS_63JFFF51 T T c.114T>A p.Ser38Arg p.S38R ENST00000390296 2/2 56 39 15 39 36 2 IGLV5-45,missense_variant,p.Ser38Arg,ENST00000390296,;IGLV1-44,upstream_gene_variant,,ENST00000390297,; A ENSG00000211650 ENST00000390296 Transcript missense_variant 142/397 114/369 38/123 S/R agT/agA rs61731379 1 1 IGLV5-45 HGNC HGNC:5924 IG_V_gene YES ENSP00000374831 A0A087WSX0 UPI0004620A24 tolerated(1) benign(0) 2/2 MODERATE 1 SNV PASS GTC . . 0.169 0.06662 0.1856 0.2732 0.08747 0.1402 0.2032 0.1773 0.1332 22376250 IGLV5-45 . GRCh38 chr22 22376251 22376251 + Missense_Mutation SNP C C T rs79280084 7316-111 BS_63JFFF51 C C c.115C>T p.Leu39Phe p.L39F ENST00000390296 2/2 56 39 16 40 37 2 IGLV5-45,missense_variant,p.Leu39Phe,ENST00000390296,;IGLV1-44,upstream_gene_variant,,ENST00000390297,; T ENSG00000211650 ENST00000390296 Transcript missense_variant 143/397 115/369 39/123 L/F Ctc/Ttc rs79280084 1 1 IGLV5-45 HGNC HGNC:5924 IG_V_gene YES ENSP00000374831 A0A087WSX0 UPI0004620A24 deleterious(0.02) possibly_damaging(0.48) 2/2 MODERATE 1 SNV PASS TCT . . 0.1413 0.04876 0.17 0.2436 0.07274 0.09909 0.1696 0.1522 0.1118 22376251 RFPL3 . GRCh38 chr22 32360716 32360716 + Missense_Mutation SNP C C T rs73166367 7316-111 BS_63JFFF51 C C c.838C>T p.Arg280Cys p.R280C ENST00000249007 2/2 47 38 7 41 41 0 RFPL3,missense_variant,p.Arg280Cys,ENST00000249007,NM_001098535.1;RFPL3,missense_variant,p.Arg251Cys,ENST00000397468,NM_006604.2;RFPL3S,non_coding_transcript_exon_variant,,ENST00000400234,;RFPL3S,non_coding_transcript_exon_variant,,ENST00000382084,;RFPL3S,non_coding_transcript_exon_variant,,ENST00000461833,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,upstream_gene_variant,,ENST00000621921,;RF02171,upstream_gene_variant,,ENST00000617561,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,; T ENSG00000128276 ENST00000249007 Transcript missense_variant 1043/1488 838/954 280/317 R/C Cgc/Tgc rs73166367,COSM78412,COSM1415947 1 1 RFPL3 HGNC HGNC:9980 protein_coding YES CCDS43011.1 ENSP00000249007 O75679 UPI000013CC68 NM_001098535.1 tolerated(0.12) possibly_damaging(0.822) 2/2 PROSITE_profiles:PS50188,cd15821,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF240,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GCG . . 0.1621 0.2881 0.08538 0.1866 0.02736 0.1704 0.206 0.1454 0.1098 32360716 RPL10 . GRCh38 chrX 154400837 154400837 + Missense_Mutation SNP C C T rs979369776 7316-111 BS_63JFFF51 C C c.628C>T p.Arg210Trp p.R210W ENST00000424325 7/7 58 51 6 40 40 0 RPL10,missense_variant,p.Arg210Trp,ENST00000424325,NM_001303625.1,NM_006013.4;RPL10,missense_variant,p.Arg210Trp,ENST00000344746,NM_001303626.1,NM_001303624.1;RPL10,missense_variant,p.Arg174Trp,ENST00000618723,NM_001256580.2;RPL10,missense_variant,p.Arg210Trp,ENST00000369817,;RPL10,missense_variant,p.Arg159Trp,ENST00000406022,;RPL10,synonymous_variant,p.Gly155=,ENST00000458500,NM_001256577.2;RPL10,intron_variant,,ENST00000427682,;RPL10,intron_variant,,ENST00000428169,;RPL10,intron_variant,,ENST00000449494,;RPL10,intron_variant,,ENST00000451365,;DNASE1L1,downstream_gene_variant,,ENST00000014935,;DNASE1L1,downstream_gene_variant,,ENST00000309585,NM_001009933.2;DNASE1L1,downstream_gene_variant,,ENST00000369807,NM_001303620.1;DNASE1L1,downstream_gene_variant,,ENST00000369808,NM_006730.3;DNASE1L1,downstream_gene_variant,,ENST00000369809,NM_001009932.2;DNASE1L1,downstream_gene_variant,,ENST00000393638,NM_001009934.2;DNASE1L1,downstream_gene_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000424626,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000436473,;DNASE1L1,downstream_gene_variant,,ENST00000447892,;DNASE1L1,downstream_gene_variant,,ENST00000451865,;SNORA70,downstream_gene_variant,,ENST00000384436,;AC245140.2,upstream_gene_variant,,ENST00000624054,;RPL10,downstream_gene_variant,,ENST00000479366,;RPL10,non_coding_transcript_exon_variant,,ENST00000482732,;RPL10,non_coding_transcript_exon_variant,,ENST00000492572,;RPL10,non_coding_transcript_exon_variant,,ENST00000489200,;RPL10,non_coding_transcript_exon_variant,,ENST00000491035,;RPL10,non_coding_transcript_exon_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000485196,;DNASE1L1,downstream_gene_variant,,ENST00000497242,; T ENSG00000147403 ENST00000424325 Transcript missense_variant 816/2318 628/645 210/214 R/W Cgg/Tgg rs979369776,COSM5793483 1 1 RPL10 HGNC HGNC:10298 protein_coding YES CCDS14746.1 ENSP00000413436 P27635 X5D2T3 UPI0000144CE2 NM_001303625.1,NM_006013.4 tolerated(0.31) benign(0) 7/7 hmmpanther:PTHR11726,hmmpanther:PTHR11726:SF11 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 154400837 MT-ND1 . GRCh38 chrM 3688 3688 + Missense_Mutation SNP G G A 7316-111 BS_63JFFF51 G G c.382G>A p.Ala128Thr p.A128T ENST00000361390 1/1 24001 22776 728 3278 3177 1 MT-ND1,missense_variant,p.Ala128Thr,ENST00000361390,;MT-ND2,upstream_gene_variant,,ENST00000361453,;MT-CO1,upstream_gene_variant,,ENST00000361624,;MT-CO2,upstream_gene_variant,,ENST00000361739,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-TF,downstream_gene_variant,,ENST00000387314,;MT-TV,downstream_gene_variant,,ENST00000387342,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,upstream_gene_variant,,ENST00000387365,;MT-TQ,downstream_gene_variant,,ENST00000387372,;MT-TM,upstream_gene_variant,,ENST00000387377,;MT-TW,upstream_gene_variant,,ENST00000387382,;MT-TA,downstream_gene_variant,,ENST00000387392,;MT-TN,downstream_gene_variant,,ENST00000387400,;MT-TC,downstream_gene_variant,,ENST00000387405,;MT-TY,downstream_gene_variant,,ENST00000387409,;MT-TS1,downstream_gene_variant,,ENST00000387416,;MT-TD,upstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-RNR1,downstream_gene_variant,,ENST00000389680,;,TF_binding_site_variant,,PB0161.1,; A ENSG00000198888 ENST00000361390 Transcript missense_variant 382/956 382/956 128/318 A/T Gcc/Acc COSM6188313,COSM6188312 1 1 MT-ND1 HGNC HGNC:7455 protein_coding YES ENSP00000354687 P03886 U5Z754 UPI0000000AA1 deleterious_low_confidence(0) probably_damaging(1) 1/1 PDB-ENSP_mappings:5xtc.s,PDB-ENSP_mappings:5xtd.s,HAMAP:MF_01350,hmmpanther:PTHR11432:SF3,hmmpanther:PTHR11432,Pfam_domain:PF00146 1,1 MODERATE 1 SNV 1,1 1 PASS CGC . . 3688 MT-CYB . GRCh38 chrM 15524 15524 + Missense_Mutation SNP A A G novel 7316-111 BS_63JFFF51 A A c.778A>G p.Asn260Asp p.N260D ENST00000361789 1/1 23216 22230 514 2974 2949 0 MT-CYB,missense_variant,p.Asn260Asp,ENST00000361789,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND5,downstream_gene_variant,,ENST00000361567,;MT-ND6,upstream_gene_variant,,ENST00000361681,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,upstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339372,; G ENSG00000198727 ENST00000361789 Transcript missense_variant 778/1141 778/1141 260/380 N/D Aac/Gac 1 1 MT-CYB HGNC HGNC:7427 protein_coding YES ENSP00000354554 P00156 Q0ZFD6 UPI0000DA7DCA deleterious_low_confidence(0.03) probably_damaging(0.99) 1/1 PDB-ENSP_mappings:5xte.J,PDB-ENSP_mappings:5xte.V,PDB-ENSP_mappings:5xth.AJ,PDB-ENSP_mappings:5xth.AV,PDB-ENSP_mappings:5xti.AJ,PDB-ENSP_mappings:5xti.AV,PROSITE_profiles:PS51003,cd00290,hmmpanther:PTHR19271,Pfam_domain:PF00032,Gene3D:1.20.810.10,PIRSF_domain:PIRSF038885,Superfamily_domains:SSF81342 MODERATE 1 SNV 1 PASS CAA . . 15524 FLG2 . GRCh38 chr1 152355996 152355996 + Missense_Mutation SNP C C A rs1397952364 7316-3069 BS_GSF4J5DP C C c.1790G>T p.Gly597Val p.G597V ENST00000388718 3/3 75 62 11 32 31 0 FLG2,missense_variant,p.Gly597Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 1863/9124 1790/7176 597/2391 G/V gGg/gTg rs1397952364,COSM1293198 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 deleterious(0.02) probably_damaging(0.923) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS CCC . . 4.062e-06 8.955e-06 152355996 GPR25 . GRCh38 chr1 200873213 200873213 + Missense_Mutation SNP T T G novel 7316-3069 BS_GSF4J5DP T T c.176T>G p.Phe59Cys p.F59C ENST00000304244 1/1 90 76 10 37 34 1 GPR25,missense_variant,p.Phe59Cys,ENST00000304244,NM_005298.3;,regulatory_region_variant,,ENSR00000018003,; G ENSG00000170128 ENST00000304244 Transcript missense_variant 259/1224 176/1086 59/361 F/C tTt/tGt 1 1 GPR25 HGNC HGNC:4480 protein_coding YES CCDS1405.1 ENSP00000301917 O00155 UPI000013E957 NM_005298.3 deleterious(0.04) probably_damaging(0.962) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15193,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF9,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237 MODERATE 1 SNV PASS TTT . . 200873213 RNF187 . GRCh38 chr1 228487551 228487551 + Missense_Mutation SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.63A>C p.Glu21Asp p.E21D ENST00000305943 1/4 80 66 12 27 26 1 RNF187,missense_variant,p.Glu21Asp,ENST00000305943,NM_001010858.2;RNF187,missense_variant,p.Glu21Asp,ENST00000639044,;RNF187,upstream_gene_variant,,ENST00000482739,;AL139288.1,upstream_gene_variant,,ENST00000623748,;,regulatory_region_variant,,ENSR00000021317,; C ENSG00000168159 ENST00000305943 Transcript missense_variant 491/3017 63/708 21/235 E/D gaA/gaC 1 1 RNF187 HGNC HGNC:27146 protein_coding YES CCDS76271.1 ENSP00000306396 A0A1X7SBW3 UPI0004E527EC NM_001010858.2 tolerated(1) benign(0) 1/4 PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF558,Pfam_domain:PF00097,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850 MODERATE 1 SNV 1 PASS AAC . . 228487551 LINC01918 . GRCh38 chr2 105144178 105144178 + Splice_Region SNP A A C novel 7316-3069 BS_GSF4J5DP A A n.63+3A>C ENST00000436841 52 35 9 24 21 1 LINC01918,splice_region_variant,,ENST00000436841,;LINC01918,splice_region_variant,,ENST00000438148,;LINC01918,splice_region_variant,,ENST00000452037,;,regulatory_region_variant,,ENSR00000121138,; C ENSG00000226508 ENST00000436841 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 LINC01918 HGNC HGNC:52737 lincRNA YES 1/1 LOW 1 SNV 2 PASS TAA . . 105144178 SH3RF3 . GRCh38 chr2 109130111 109130111 + Missense_Mutation SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.571A>C p.Lys191Gln p.K191Q ENST00000309415 1/10 54 43 8 26 25 0 SH3RF3,missense_variant,p.Lys191Gln,ENST00000309415,NM_001099289.2;SH3RF3-AS1,upstream_gene_variant,,ENST00000567491,;,regulatory_region_variant,,ENSR00000121445,; C ENSG00000172985 ENST00000309415 Transcript missense_variant,splice_region_variant 764/5803 571/2649 191/882 K/Q Aag/Cag 1 1 SH3RF3 HGNC HGNC:24699 protein_coding YES CCDS74557.1 ENSP00000309186 Q8TEJ3 UPI0000DD7AEA NM_001099289.2 tolerated(0.33) benign(0.014) 1/10 Gene3D:2.30.30.40,hmmpanther:PTHR44208,hmmpanther:PTHR44208:SF3 MODERATE 1 SNV 5 PASS AAA . . 109130111 RETREG2 . GRCh38 chr2 219178353 219178353 + Translation_Start_Site SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.1A>C p.Met1? p.M1? ENST00000430297 1/9 81 65 11 18 16 0 RETREG2,start_lost,p.Met1?,ENST00000430297,NM_024293.5;RETREG2,intron_variant,,ENST00000443757,;RETREG2,intron_variant,,ENST00000458520,NM_001321110.1,NM_001321109.1;CNPPD1,upstream_gene_variant,,ENST00000360507,NM_001321390.1,NM_015680.5,NM_001321391.1;CNPPD1,upstream_gene_variant,,ENST00000409789,NM_001321389.1;RETREG2,upstream_gene_variant,,ENST00000420189,;RETREG2,upstream_gene_variant,,ENST00000430747,;CNPPD1,upstream_gene_variant,,ENST00000451647,;RETREG2,upstream_gene_variant,,ENST00000452022,;CNPPD1,upstream_gene_variant,,ENST00000453038,;RETREG2,start_lost,p.Met1?,ENST00000273048,;RETREG2,start_lost,p.Met1?,ENST00000452293,;RETREG2,upstream_gene_variant,,ENST00000465672,;RETREG2,upstream_gene_variant,,ENST00000481925,;,regulatory_region_variant,,ENSR00000130512,; C ENSG00000144567 ENST00000430297 Transcript start_lost 137/4618 1/1632 1/543 M/L Atg/Ctg 1 1 RETREG2 HGNC HGNC:28450 protein_coding YES CCDS2434.1 ENSP00000395249 Q8NC44 UPI000013D996 NM_024293.5 deleterious_low_confidence(0) benign(0.088) 1/9 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS TAT . . 219178353 OBSL1 . GRCh38 chr2 219551753 219551753 + Missense_Mutation SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.5459T>G p.Val1820Gly p.V1820G ENST00000404537 20/21 100 87 12 20 18 2 OBSL1,missense_variant,p.Val1820Gly,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Val1728Gly,ENST00000373876,;TMEM198,downstream_gene_variant,,ENST00000344458,NM_001303098.1;TMEM198,downstream_gene_variant,,ENST00000373883,NM_001005209.2;TMEM198,downstream_gene_variant,,ENST00000421791,;TMEM198,downstream_gene_variant,,ENST00000451952,;OBSL1,downstream_gene_variant,,ENST00000456147,;OBSL1,downstream_gene_variant,,ENST00000603926,NM_001173431.1;OBSL1,downstream_gene_variant,,ENST00000604031,;MIR3132,upstream_gene_variant,,ENST00000581997,;AC009955.3,upstream_gene_variant,,ENST00000596829,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,non_coding_transcript_exon_variant,,ENST00000489804,;OBSL1,non_coding_transcript_exon_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000472388,;OBSL1,downstream_gene_variant,,ENST00000596474,; C ENSG00000124006 ENST00000404537 Transcript missense_variant 5516/5841 5459/5691 1820/1896 V/G gTt/gGt 1 -1 OBSL1 HGNC HGNC:29092 protein_coding YES CCDS46520.1 ENSP00000385636 O75147 UPI0000E07EA0 NM_015311.2 tolerated(0.25) probably_damaging(0.928) 20/21 PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF30,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 1 PASS AAC . . 219551753 SGPP2 . GRCh38 chr2 222424632 222424632 + Missense_Mutation SNP T T G novel 7316-3069 BS_GSF4J5DP T T c.30T>G p.Asp10Glu p.D10E ENST00000321276 1/5 81 67 12 28 25 2 SGPP2,missense_variant,p.Asp10Glu,ENST00000321276,NM_001320833.1,NM_152386.3,NM_001320834.1;,regulatory_region_variant,,ENSR00000130805,; G ENSG00000163082 ENST00000321276 Transcript missense_variant 116/3336 30/1200 10/399 D/E gaT/gaG 1 1 SGPP2 HGNC HGNC:19953 protein_coding YES CCDS2453.1 ENSP00000315137 Q8IWX5 UPI000004A1E3 NM_001320833.1,NM_152386.3,NM_001320834.1 deleterious(0.01) possibly_damaging(0.714) 1/5 hmmpanther:PTHR14969:SF14,hmmpanther:PTHR14969 MODERATE 1 SNV 1 PASS ATT . . 222424632 SGPP2 . GRCh38 chr2 222424686 222424686 + Missense_Mutation SNP T T G novel 7316-3069 BS_GSF4J5DP T T c.84T>G p.Asp28Glu p.D28E ENST00000321276 1/5 79 69 7 31 30 0 SGPP2,missense_variant,p.Asp28Glu,ENST00000321276,NM_001320833.1,NM_152386.3,NM_001320834.1;,regulatory_region_variant,,ENSR00000130805,; G ENSG00000163082 ENST00000321276 Transcript missense_variant 170/3336 84/1200 28/399 D/E gaT/gaG 1 1 SGPP2 HGNC HGNC:19953 protein_coding YES CCDS2453.1 ENSP00000315137 Q8IWX5 UPI000004A1E3 NM_001320833.1,NM_152386.3,NM_001320834.1 tolerated(0.67) benign(0) 1/5 hmmpanther:PTHR14969:SF14,hmmpanther:PTHR14969 MODERATE 1 SNV 1 PASS ATG . . 222424686 CUL3 . GRCh38 chr2 224584964 224584964 + Missense_Mutation SNP T T G novel 7316-3069 BS_GSF4J5DP T T c.46A>C p.Met16Leu p.M16L ENST00000264414 1/16 63 54 7 25 25 0 CUL3,missense_variant,p.Met16Leu,ENST00000264414,NM_003590.4;CUL3,missense_variant,p.Met16Leu,ENST00000344951,NM_001257197.1;,regulatory_region_variant,,ENSR00000131107,; G ENSG00000036257 ENST00000264414 Transcript missense_variant 385/6741 46/2307 16/768 M/L Atg/Ctg 1 -1 CUL3 HGNC HGNC:2553 protein_coding YES CCDS2462.1 ENSP00000264414 Q13618 A0A024R475 UPI0000001C83 NM_003590.4 tolerated(0.17) benign(0.003) 1/16 hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF126 MODERATE 1 SNV 1 1 PASS ATC . . 224584964 PLXNA1 . GRCh38 chr3 127022325 127022325 + Missense_Mutation SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.4279A>C p.Lys1427Gln p.K1427Q ENST00000393409 21/31 107 95 8 32 31 0 PLXNA1,missense_variant,p.Lys1427Gln,ENST00000393409,NM_032242.3;PLXNA1,upstream_gene_variant,,ENST00000503234,; C ENSG00000114554 ENST00000393409 Transcript missense_variant 4279/9066 4279/5691 1427/1896 K/Q Aag/Cag 1 1 PLXNA1 HGNC HGNC:9099 protein_coding YES CCDS33847.2 ENSP00000377061 Q9UIW2 UPI00001A7983 NM_032242.3 tolerated(0.06) probably_damaging(0.988) 21/31 cd12790,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF08337,Gene3D:1.10.506.10,Superfamily_domains:SSF48350 MODERATE 1 SNV 1 PASS CAA . . 127022325 ERICH6 . GRCh38 chr3 150703732 150703732 + Missense_Mutation SNP A A T rs573303855 7316-3069 BS_GSF4J5DP A A c.167T>A p.Val56Glu p.V56E ENST00000295910 1/14 78 61 7 25 25 0 ERICH6,missense_variant,p.Val56Glu,ENST00000295910,NM_152394.4;ERICH6,splice_region_variant,,ENST00000474463,;ERICH6,intron_variant,,ENST00000491361,NM_001308234.1;ERICH6,intron_variant,,ENST00000498386,;ERICH6-AS1,intron_variant,,ENST00000471093,;ERICH6-AS1,upstream_gene_variant,,ENST00000463755,;ERICH6-AS1,upstream_gene_variant,,ENST00000475393,;,regulatory_region_variant,,ENSR00000160157,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; T ENSG00000163645 ENST00000295910 Transcript missense_variant 220/2052 167/1992 56/663 V/E gTg/gAg rs573303855,COSM1039882 1 -1 ERICH6 HGNC HGNC:28602 protein_coding YES CCDS3151.2 ENSP00000295910 Q7L0X2 UPI000023281A NM_152394.4 tolerated_low_confidence(0.62) benign(0) 1/14 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF11,mobidb-lite,Low_complexity_(Seg):seg 0.0082 0.0091 0.0144 0.0069 0.0089 0.0031 0,1 MODERATE 1 SNV 1 0,1 PASS CAC . . 1.775e-05 3.724e-05 150703732 OTULIN . GRCh38 chr5 14664964 14664964 + Missense_Mutation SNP T T G novel 7316-3069 BS_GSF4J5DP T T c.139T>G p.Cys47Gly p.C47G ENST00000284274 1/7 89 73 10 30 28 0 OTULIN,missense_variant,p.Cys47Gly,ENST00000284274,NM_138348.4;AC010491.1,upstream_gene_variant,,ENST00000563101,;AC010491.1,upstream_gene_variant,,ENST00000564167,;AC010491.1,upstream_gene_variant,,ENST00000567048,;OTULIN,missense_variant,p.Cys47Gly,ENST00000503023,;OTULIN,non_coding_transcript_exon_variant,,ENST00000507335,;,regulatory_region_variant,,ENSR00000178378,; G ENSG00000154124 ENST00000284274 Transcript missense_variant 217/7800 139/1059 47/352 C/G Tgc/Ggc 1 1 OTULIN HGNC HGNC:25118 protein_coding YES CCDS43302.1 ENSP00000284274 Q96BN8 UPI0000374C00 NM_138348.4 tolerated(0.43) benign(0) 1/7 Prints_domain:PR02057,hmmpanther:PTHR33662,hmmpanther:PTHR33662:SF2,mobidb-lite MODERATE 1 SNV 1 1 PASS GTG . . 14664964 MAP3K7 . GRCh38 chr6 90586882 90586882 + Translation_Start_Site SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.2T>G p.Met1? p.M1? ENST00000369329 1/17 57 51 6 31 30 0 MAP3K7,start_lost,p.Met1?,ENST00000369329,NM_145331.2;MAP3K7,start_lost,p.Met1?,ENST00000369332,NM_003188.3;MAP3K7,start_lost,p.Met1?,ENST00000369325,NM_145332.2;MAP3K7,start_lost,p.Met1?,ENST00000369327,NM_145333.2;,regulatory_region_variant,,ENSR00000200040,; C ENSG00000135341 ENST00000369329 Transcript start_lost 164/4911 2/1821 1/606 M/R aTg/aGg 1 -1 MAP3K7 HGNC HGNC:6859 protein_coding YES CCDS5028.1 ENSP00000358335 O43318 UPI000012EAD6 NM_145331.2 deleterious_low_confidence(0.01) benign(0.042) 1/17 HIGH 1 SNV 1 1 PASS CAT . . 90586882 ZPBP . GRCh38 chr7 50089625 50089625 + Splice_Region SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.208+4T>G ENST00000046087 74 65 7 38 38 0 ZPBP,splice_region_variant,,ENST00000046087,NM_007009.2;ZPBP,splice_region_variant,,ENST00000419417,NM_001159878.1;ZPBP,splice_region_variant,,ENST00000450231,;ZPBP,splice_region_variant,,ENST00000413331,; C ENSG00000042813 ENST00000046087 Transcript splice_region_variant,intron_variant 1 -1 ZPBP HGNC HGNC:15662 protein_coding YES CCDS5509.1 ENSP00000046087 Q9BS86 UPI0000073BD0 NM_007009.2 2/7 LOW 1 SNV 1 PASS AAT . . 50089625 MUC17 . GRCh38 chr7 101039697 101039697 + Missense_Mutation SNP C C A novel 7316-3069 BS_GSF4J5DP C C c.8281C>A p.Leu2761Met p.L2761M ENST00000306151 3/13 79 63 11 29 26 0 MUC17,missense_variant,p.Leu2761Met,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Leu2761Met,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 8345/14247 8281/13482 2761/4493 L/M Ctg/Atg 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0) possibly_damaging(0.86) 3/13 hmmpanther:PTHR37999 MODERATE 1 SNV 1 PASS CCT . . 101039697 KIF13B . GRCh38 chr8 29071902 29071902 + Missense_Mutation SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.4936T>G p.Phe1646Val p.F1646V ENST00000524189 39/40 83 69 13 25 23 2 KIF13B,missense_variant,p.Phe1646Val,ENST00000524189,NM_015254.3;KIF13B,missense_variant,p.Phe238Val,ENST00000523130,;AC108449.3,downstream_gene_variant,,ENST00000560714,;,regulatory_region_variant,,ENSR00000222845,; C ENSG00000197892 ENST00000524189 Transcript missense_variant 4975/8745 4936/5481 1646/1826 F/V Ttc/Gtc 1 -1 KIF13B HGNC HGNC:14405 protein_coding YES CCDS55217.1 ENSP00000427900 Q9NQT8 UPI000035B257 NM_015254.3 deleterious_low_confidence(0.04) possibly_damaging(0.6) 39/40 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 29071902 UTP23 . GRCh38 chr8 116766764 116766764 + Missense_Mutation SNP T T G rs537971398 7316-3069 BS_GSF4J5DP T T c.161T>G p.Met54Arg p.M54R ENST00000309822 1/3 88 75 12 35 32 2 UTP23,missense_variant,p.Met54Arg,ENST00000309822,NM_032334.2;UTP23,missense_variant,p.Met54Arg,ENST00000517820,;UTP23,missense_variant,p.Met54Arg,ENST00000517814,;EIF3H,5_prime_UTR_variant,,ENST00000520813,;EIF3H,upstream_gene_variant,,ENST00000276682,;UTP23,upstream_gene_variant,,ENST00000520733,;UTP23,missense_variant,p.Met54Arg,ENST00000521703,;UTP23,missense_variant,p.Met54Arg,ENST00000521071,;UTP23,non_coding_transcript_exon_variant,,ENST00000519443,;UTP23,upstream_gene_variant,,ENST00000521974,;UTP23,upstream_gene_variant,,ENST00000524128,;,regulatory_region_variant,,ENSR00000229070,; G ENSG00000147679 ENST00000309822 Transcript missense_variant 262/3699 161/750 54/249 M/R aTg/aGg rs537971398,COSM1454434 1 1 UTP23 HGNC HGNC:28224 protein_coding YES CCDS6320.1 ENSP00000308332 Q9BRU9 UPI000013EF3A NM_032334.2 tolerated(0.35) benign(0.41) 1/3 cd09866,hmmpanther:PTHR12416:SF3,hmmpanther:PTHR12416,Pfam_domain:PF04900,Gene3D:3.40.50.1010,Superfamily_domains:SSF88723 0.0002 0.0008 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 3.756e-05 9.69e-05 3.773e-05 6.37e-05 116766764 INPP5E . GRCh38 chr9 136439211 136439211 + Missense_Mutation SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.209T>G p.Ile70Ser p.I70S ENST00000371712 1/10 91 82 9 23 23 0 INPP5E,missense_variant,p.Ile70Ser,ENST00000371712,NM_001318502.1,NM_019892.5;SEC16A,downstream_gene_variant,,ENST00000277537,;SEC16A,downstream_gene_variant,,ENST00000290037,NM_001276418.1;SEC16A,downstream_gene_variant,,ENST00000313050,NM_014866.1;SEC16A,downstream_gene_variant,,ENST00000313084,;SEC16A,downstream_gene_variant,,ENST00000371706,;SEC16A,downstream_gene_variant,,ENST00000431893,;SEC16A,downstream_gene_variant,,ENST00000453963,;INPP5E,non_coding_transcript_exon_variant,,ENST00000635815,;SEC16A,downstream_gene_variant,,ENST00000467838,;,regulatory_region_variant,,ENSR00000243016,; C ENSG00000148384 ENST00000371712 Transcript missense_variant 612/3394 209/1935 70/644 I/S aTc/aGc 1 -1 INPP5E HGNC HGNC:21474 protein_coding YES CCDS7000.1 ENSP00000360777 Q9NRR6 UPI000014053C NM_001318502.1,NM_019892.5 tolerated_low_confidence(0.1) benign(0.018) 1/10 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GAT . . 136439211 HNRNPF . GRCh38 chr10 43394690 43394691 + Splice_Region INS - - A rs561733644 7316-3069 BS_GSF4J5DP - - c.-111-3dup ENST00000443950 68 56 8 21 21 0 HNRNPF,splice_region_variant,,ENST00000337970,NM_001098204.1,NM_004966.3;HNRNPF,splice_region_variant,,ENST00000356053,NM_001098205.1;HNRNPF,splice_region_variant,,ENST00000357065,NM_001098206.1;HNRNPF,splice_region_variant,,ENST00000443950,NM_001098208.1;HNRNPF,splice_region_variant,,ENST00000477108,;HNRNPF,splice_region_variant,,ENST00000544000,NM_001098207.1;HNRNPF,splice_region_variant,,ENST00000498176,; A ENSG00000169813 ENST00000443950 Transcript splice_region_variant,intron_variant rs561733644 1 -1 HNRNPF HGNC HGNC:5039 protein_coding YES CCDS7204.1 ENSP00000400433 P52597 A0A024R7T3 UPI0000000C5C NM_001098208.1 1/2 LOW 1 insertion 1 PASS CTA . . 43394690 AHNAK . GRCh38 chr11 62523443 62523443 + Missense_Mutation SNP C C G 7316-3069 BS_GSF4J5DP C C c.10974G>C p.Lys3658Asn p.K3658N ENST00000378024 5/5 88 72 7 26 25 0 AHNAK,missense_variant,p.Lys3658Asn,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; G ENSG00000124942 ENST00000378024 Transcript missense_variant 11249/18787 10974/17673 3658/5890 K/N aaG/aaC COSM6337837,COSM6337836 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 deleterious(0) possibly_damaging(0.526) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 1,1 MODERATE 1 SNV 2 1,1 PASS ACT . . 62523443 CUL5 . GRCh38 chr11 108072467 108072468 + Splice_Region INS - - T rs781729952 7316-3069 BS_GSF4J5DP - - c.1005+13dup ENST00000393094 82 69 6 28 28 0 CUL5,splice_region_variant,,ENST00000393094,NM_003478.3;CUL5,upstream_gene_variant,,ENST00000531843,;CUL5,splice_region_variant,,ENST00000531427,; T ENSG00000166266 ENST00000393094 Transcript splice_region_variant,intron_variant rs781729952 1 1 CUL5 HGNC HGNC:2556 protein_coding YES CCDS31668.1 ENSP00000376808 Q93034 UPI00001380B0 NM_003478.3 9/18 0.0009381 LOW 1 insertion 1 8 PASS AGT . . 0.0001095 0.001016 0.0001395 0.0001113 9.419e-06 0.0001492 108072467 ZIC2 . GRCh38 chr13 99985438 99985438 + Missense_Mutation SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.1355A>C p.Asn452Thr p.N452T ENST00000376335 3/3 55 38 10 25 25 0 ZIC2,missense_variant,p.Asn452Thr,ENST00000376335,NM_007129.3;ZIC2,non_coding_transcript_exon_variant,,ENST00000477213,;ZIC2,non_coding_transcript_exon_variant,,ENST00000490085,;ZIC2,non_coding_transcript_exon_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000481565,;,regulatory_region_variant,,ENSR00000065147,; C ENSG00000043355 ENST00000376335 Transcript missense_variant 1648/2983 1355/1599 452/532 N/T aAc/aCc 1 1 ZIC2 HGNC HGNC:12873 protein_coding YES CCDS9495.1 ENSP00000365514 O95409 A0A024RDY6 UPI000013C3DC NM_007129.3 tolerated(0.4) benign(0.001) 3/3 mobidb-lite,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27,Gene3D:3.30.160.60 MODERATE 1 SNV 1 1 PASS AAC . . 99985438 BCL2L2 . GRCh38 chr14 23306896 23306896 + Splice_Site SNP T T G novel 7316-3069 BS_GSF4J5DP T T c.-97+2T>G ENST00000250405 94 76 9 27 27 0 BCL2L2,splice_donor_variant,,ENST00000250405,NM_001199839.1,NM_004050.4;BCL2L2-PABPN1,splice_donor_variant,,ENST00000553781,NM_001199864.1;BCL2L2,5_prime_UTR_variant,,ENST00000557236,;BCL2L2,5_prime_UTR_variant,,ENST00000557579,;BCL2L2,intron_variant,,ENST00000553824,;PPP1R3E,upstream_gene_variant,,ENST00000452015,NM_001276318.1;BCL2L2,upstream_gene_variant,,ENST00000554635,;BCL2L2,upstream_gene_variant,,ENST00000556599,;BCL2L2-PABPN1,upstream_gene_variant,,ENST00000557008,;BCL2L2-PABPN1,splice_donor_variant,,ENST00000556100,;,regulatory_region_variant,,ENSR00000066725,; G ENSG00000129473 ENST00000250405 Transcript splice_donor_variant 1 1 BCL2L2 HGNC HGNC:995 protein_coding YES CCDS9591.1 ENSP00000250405 Q92843 UPI000013CCB8 NM_001199839.1,NM_004050.4 1/3 HIGH 1 SNV 1 PASS GTG . . 23306896 ISM2 . GRCh38 chr14 77484327 77484327 + Missense_Mutation SNP T T G rs1010830412 7316-3069 BS_GSF4J5DP T T c.623A>C p.Asn208Thr p.N208T ENST00000342219 3/7 109 89 15 36 36 0 ISM2,missense_variant,p.Asn208Thr,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Asn208Thr,ENST00000493585,NM_182509.3;ISM2,intron_variant,,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,downstream_gene_variant,,ENST00000480979,;ISM2,upstream_gene_variant,,ENST00000487738,; G ENSG00000100593 ENST00000342219 Transcript missense_variant 680/2971 623/1716 208/571 N/T aAc/aCc rs1010830412 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 deleterious(0) benign(0.003) 3/7 hmmpanther:PTHR10239,hmmpanther:PTHR10239:SF28 MODERATE 1 SNV 1 PASS GTT . . 1.256e-05 3.085e-05 0.0001077 9.242e-06 77484327 AHNAK2 . GRCh38 chr14 104952392 104952392 + Missense_Mutation SNP A A G rs573718762 7316-3069 BS_GSF4J5DP A A c.3059T>C p.Leu1020Ser p.L1020S ENST00000333244 7/7 79 68 7 27 26 0 AHNAK2,missense_variant,p.Leu1020Ser,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 3179/18254 3059/17388 1020/5795 L/S tTg/tCg rs573718762 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.0002 0.0008 MODERATE 1 SNV 5 PASS CAA . . 0.0002973 0.0002634 0.0002391 5.802e-05 4.492e-05 0.0002424 0.0007345 0.0009106 104952392 GOLGA6L6 . GRCh38 chr15 20534993 20534993 + Missense_Mutation SNP T T C rs756554667 7316-3069 BS_GSF4J5DP T T c.1441A>G p.Lys481Glu p.K481E ENST00000619213 8/9 65 48 8 26 21 0 GOLGA6L6,missense_variant,p.Lys481Glu,ENST00000619213,NM_001145004.2; C ENSG00000277322 ENST00000619213 Transcript missense_variant 1532/4013 1441/2175 481/724 K/E Aag/Gag rs756554667 1 -1 GOLGA6L6 HGNC HGNC:37225 protein_coding YES CCDS45184.1 ENSP00000480376 A8MZA4 UPI000442CF04 NM_001145004.2 tolerated(1) benign(0) 8/9 Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF20 MODERATE 1 SNV 5 PASS TTC . . 0.0005084 0.002308 0.0007415 0.0001252 6.832e-05 0.0005046 0.0005464 0.0004045 20534993 TLN2 . GRCh38 chr15 62686675 62686675 + Missense_Mutation SNP G G A rs745713228 7316-3069 BS_GSF4J5DP G G c.992G>A p.Arg331His p.R331H ENST00000561311 11/58 67 34 30 23 22 0 TLN2,missense_variant,p.Arg331His,ENST00000561311,NM_015059.2;TLN2,intron_variant,,ENST00000636159,;AC100839.2,intron_variant,,ENST00000559589,; A ENSG00000171914 ENST00000561311 Transcript missense_variant 1222/11880 992/7629 331/2542 R/H cGc/cAc rs745713228 1 1 TLN2 HGNC HGNC:15447 protein_coding YES CCDS32261.1 ENSP00000453508 Q9Y4G6 UPI00001FE5FC NM_015059.2 deleterious(0) probably_damaging(0.999) 11/58 Gene3D:2.30.29.30,PROSITE_profiles:PS50057,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF1,SMART_domains:SM01244,Superfamily_domains:SSF50729,cd10569 MODERATE SNV 5 PASS CGC . . 8.143e-06 1.796e-05 62686675 RHBDF1 . GRCh38 chr16 58419 58419 + Missense_Mutation SNP T T G novel 7316-3069 BS_GSF4J5DP T T c.2489A>C p.Glu830Ala p.E830A ENST00000262316 18/18 80 73 6 25 25 0 RHBDF1,missense_variant,p.Glu830Ala,ENST00000262316,NM_022450.3;RHBDF1,missense_variant,p.Glu207Ala,ENST00000448893,;POLR3K,upstream_gene_variant,,ENST00000293860,NM_016310.4;SNRNP25,downstream_gene_variant,,ENST00000293861,;SNRNP25,downstream_gene_variant,,ENST00000383018,NM_024571.3;SNRNP25,downstream_gene_variant,,ENST00000417493,;RHBDF1,downstream_gene_variant,,ENST00000450643,;SNRNP25,downstream_gene_variant,,ENST00000493672,;RHBDF1,3_prime_UTR_variant,,ENST00000428730,;SNRNP25,downstream_gene_variant,,ENST00000397876,;RHBDF1,downstream_gene_variant,,ENST00000417043,;SNRNP25,downstream_gene_variant,,ENST00000466183,;SNRNP25,downstream_gene_variant,,ENST00000481947,;RHBDF1,downstream_gene_variant,,ENST00000482904,;RHBDF1,downstream_gene_variant,,ENST00000486045,;RHBDF1,downstream_gene_variant,,ENST00000487201,;RHBDF1,downstream_gene_variant,,ENST00000493647,; G ENSG00000007384 ENST00000262316 Transcript missense_variant 2632/2992 2489/2568 830/855 E/A gAg/gCg 1 -1 RHBDF1 HGNC HGNC:20561 protein_coding YES CCDS32344.1 ENSP00000262316 Q96CC6 UPI00001A5206 NM_022450.3 tolerated(0.27) benign(0.003) 18/18 hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF26 MODERATE 1 SNV 1 PASS CTC . . 58419 TCF25 . GRCh38 chr16 89873693 89873693 + Missense_Mutation SNP T T G novel 7316-3069 BS_GSF4J5DP T T c.26T>G p.Leu9Arg p.L9R ENST00000263346 1/18 89 68 13 20 19 1 TCF25,missense_variant,p.Leu9Arg,ENST00000263346,NM_014972.2;TCF25,missense_variant,p.Leu9Arg,ENST00000614813,;TCF25,missense_variant,p.Leu9Arg,ENST00000568412,;TCF25,missense_variant,p.Leu9Arg,ENST00000561958,;TCF25,missense_variant,p.Leu9Arg,ENST00000565196,;TCF25,5_prime_UTR_variant,,ENST00000263347,;SPIRE2,downstream_gene_variant,,ENST00000378247,NM_032451.1;SPIRE2,downstream_gene_variant,,ENST00000393062,;TCF25,non_coding_transcript_exon_variant,,ENST00000563032,;TCF25,upstream_gene_variant,,ENST00000563406,;TCF25,missense_variant,p.Leu9Arg,ENST00000640279,;TCF25,missense_variant,p.Leu9Arg,ENST00000564652,;TCF25,non_coding_transcript_exon_variant,,ENST00000561585,;SPIRE2,downstream_gene_variant,,ENST00000562029,;SPIRE2,downstream_gene_variant,,ENST00000565628,;SPIRE2,downstream_gene_variant,,ENST00000569108,;,regulatory_region_variant,,ENSR00000089791,; G ENSG00000141002 ENST00000263346 Transcript missense_variant 82/2233 26/2031 9/676 L/R cTg/cGg 1 1 TCF25 HGNC HGNC:29181 protein_coding YES CCDS10987.1 ENSP00000263346 Q9BQ70 UPI000012A80B NM_014972.2 deleterious(0) probably_damaging(0.997) 1/18 hmmpanther:PTHR22684,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTG . . 89873693 MFSD12 . GRCh38 chr19 3557403 3557403 + Translation_Start_Site SNP T T G novel 7316-3069 BS_GSF4J5DP T T c.1A>C p.Met1? p.M1? ENST00000355415 1/10 68 50 7 21 18 0 MFSD12,start_lost,p.Met1?,ENST00000355415,NM_174983.4;MFSD12,start_lost,p.Met1?,ENST00000389395,NM_001287529.1;MFSD12,intron_variant,,ENST00000592652,;AC005786.2,upstream_gene_variant,,ENST00000592368,;AC005786.3,intron_variant,,ENST00000589360,;MFSD12,intron_variant,,ENST00000591878,;MFSD12,start_lost,p.Met1?,ENST00000588918,;MFSD12,intron_variant,,ENST00000585814,;MFSD12,intron_variant,,ENST00000588626,;,regulatory_region_variant,,ENSR00000106070,; G ENSG00000161091 ENST00000355415 Transcript start_lost 171/2124 1/1443 1/480 M/L Atg/Ctg 1 -1 MFSD12 HGNC HGNC:28299 protein_coding YES CCDS42465.1 ENSP00000347583 Q6NUT3 UPI0000046FA8 NM_174983.4 deleterious_low_confidence(0.05) benign(0.003) 1/10 HIGH 1 SNV 1 PASS ATC . . 3557403 MUC16 . GRCh38 chr19 8937978 8937978 + Missense_Mutation SNP C C A novel 7316-3069 BS_GSF4J5DP C C c.32977G>T p.Ala10993Ser p.A10993S ENST00000397910 5/84 72 57 5 24 23 0 MUC16,missense_variant,p.Ala10993Ser,ENST00000397910,NM_024690.2; A ENSG00000181143 ENST00000397910 Transcript missense_variant 33181/43816 32977/43524 10993/14507 A/S Gct/Tct 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0.025) 5/84 hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 MODERATE 1 SNV 5 1 PASS GCA . . 8937978 ZNF878 . GRCh38 chr19 12044176 12044176 + Missense_Mutation SNP C C T rs932526113 7316-3069 BS_GSF4J5DP C C c.1225G>A p.Val409Ile p.V409I ENST00000547628 4/4 56 45 5 31 29 0 ZNF878,missense_variant,p.Val409Ile,ENST00000547628,NM_001080404.2;ZNF433-AS1,intron_variant,,ENST00000476474,;ZNF433-AS1,intron_variant,,ENST00000591838,;ZNF433-AS1,intron_variant,,ENST00000591898,;AC008770.1,intron_variant,,ENST00000547473,; T ENSG00000257446 ENST00000547628 Transcript missense_variant 1363/1734 1225/1596 409/531 V/I Gtc/Atc rs932526113 1 -1 ZNF878 HGNC HGNC:37246 protein_coding YES CCDS45984.2 ENSP00000447931 C9JN71 UPI00001D8268 NM_001080404.2 tolerated(0.19) benign(0) 4/4 Gene3D:2.40.155.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF45,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS ACT . . 12044176 CYP4F2 . GRCh38 chr19 15878920 15878920 + Missense_Mutation SNP T T C rs4020346 7316-3069 BS_GSF4J5DP T T c.1414A>G p.Thr472Ala p.T472A ENST00000221700 13/13 74 64 8 32 31 0 CYP4F2,missense_variant,p.Thr472Ala,ENST00000221700,NM_001082.4;CYP4F2,missense_variant,p.Thr472Ala,ENST00000011989,;CYP4F2,synonymous_variant,p.Arg68=,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,; C ENSG00000186115 ENST00000221700 Transcript missense_variant 1510/2407 1414/1563 472/520 T/A Acg/Gcg rs4020346,COSM230368 1 -1 CYP4F2 HGNC HGNC:2645 protein_coding YES CCDS12336.1 ENSP00000221700 P78329 UPI0000052BE6 NM_001082.4 tolerated(0.29) benign(0.007) 13/13 hmmpanther:PTHR24291:SF112,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTC . . 0.2375 0.3167 0.2927 0.1846 0.2909 0.2938 0.2256 0.2207 0.1307 15878920 ZNF43 . GRCh38 chr19 21808336 21808336 + Missense_Mutation SNP C C A 7316-3069 BS_GSF4J5DP C C c.1728G>T p.Lys576Asn p.K576N ENST00000357491 4/4 85 61 7 28 26 0 ZNF43,missense_variant,p.Lys561Asn,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Lys576Asn,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Lys561Asn,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Lys561Asn,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Lys567Asn,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; A ENSG00000198521 ENST00000357491 Transcript missense_variant 1862/5249 1728/2457 576/818 K/N aaG/aaT COSM4743822 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 deleterious(0.02) probably_damaging(0.989) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS ACT . . 21808336 ZNF676 . GRCh38 chr19 22180051 22180051 + Missense_Mutation SNP T T C rs562609664 7316-3069 BS_GSF4J5DP T T c.1666A>G p.Thr556Ala p.T556A ENST00000397121 3/3 64 51 7 20 19 0 ZNF676,missense_variant,p.Thr556Ala,ENST00000397121,NM_001001411.2;VN1R85P,upstream_gene_variant,,ENST00000601587,; C ENSG00000196109 ENST00000397121 Transcript missense_variant 1984/2944 1666/1767 556/588 T/A Act/Gct rs562609664 1 -1 ZNF676 HGNC HGNC:20429 protein_coding YES CCDS42539.1 ENSP00000380310 Q8N7Q3 UPI00002376EC NM_001001411.2 deleterious(0.04) benign(0.003) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0.0002 0.0014 MODERATE 1 SNV 2 PASS GTA . . 22180051 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 83 55 15 32 28 3 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 CACNG8 . GRCh38 chr19 53982784 53982784 + Missense_Mutation SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.1213A>C p.Thr405Pro p.T405P ENST00000270458 4/4 43 35 5 22 21 0 CACNG8,missense_variant,p.Thr405Pro,ENST00000270458,NM_031895.5;CACNG8,missense_variant,p.Thr405Pro,ENST00000638874,;MIR935,downstream_gene_variant,,ENST00000401179,;,regulatory_region_variant,,ENSR00000111434,; C ENSG00000142408 ENST00000270458 Transcript missense_variant 1316/8747 1213/1278 405/425 T/P Acc/Ccc 1 1 CACNG8 HGNC HGNC:13628 protein_coding YES CCDS33104.1 ENSP00000270458 A0A1X7SBR8 UPI000013D88B NM_031895.5 deleterious_low_confidence(0) possibly_damaging(0.549) 4/4 hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAC . . 53982784 MAGEB6B . GRCh38 chrX 26160994 26160994 + Missense_Mutation SNP A A T novel 7316-3069 BS_GSF4J5DP A A c.394A>T p.Asn132Tyr p.N132Y ENST00000416929 1/1 41 30 6 17 14 0 MAGEB6B,missense_variant,p.Asn132Tyr,ENST00000416929,; T ENSG00000232030 ENST00000416929 Transcript missense_variant 394/1224 394/1224 132/407 N/Y Aat/Tat 1 1 MAGEB6B HGNC HGNC:28824 protein_coding YES ENSP00000488257 A0A0J9YX57 UPI0000237759 deleterious(0.03) possibly_damaging(0.552) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67,hmmpanther:PTHR11736:SF67,SMART_domains:SM01392,mobidb-lite MODERATE 1 SNV PASS AAA . . 26160994 ARMCX4 . GRCh38 chrX 101494065 101494065 + Missense_Mutation SNP G G A novel 7316-3069 BS_GSF4J5DP G G c.5476G>A p.Gly1826Arg p.G1826R ENST00000423738 2/2 61 25 8 28 16 0 ARMCX4,missense_variant,p.Gly1826Arg,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; A ENSG00000196440 ENST00000423738 Transcript missense_variant 5678/7424 5476/6873 1826/2290 G/R Ggg/Agg 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.55) benign(0.18) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TGG . . 101494065 FLNA . GRCh38 chrX 154366324 154366324 + Missense_Mutation SNP A A C novel 7316-3069 BS_GSF4J5DP A A c.1212T>G p.Phe404Leu p.F404L ENST00000369850 8/48 59 50 8 17 16 0 FLNA,missense_variant,p.Phe404Leu,ENST00000369850,NM_001110556.1;FLNA,missense_variant,p.Phe404Leu,ENST00000422373,NM_001456.3;FLNA,missense_variant,p.Phe404Leu,ENST00000360319,;FLNA,missense_variant,p.Phe377Leu,ENST00000369856,;FLNA,missense_variant,p.Phe377Leu,ENST00000610817,;FLNA,missense_variant,p.Phe390Leu,ENST00000420627,;FLNA,upstream_gene_variant,,ENST00000465144,; C ENSG00000196924 ENST00000369850 Transcript missense_variant 1461/8516 1212/7944 404/2647 F/L ttT/ttG 1 -1 FLNA HGNC HGNC:3754 protein_coding YES CCDS48194.1 ENSP00000358866 P21333 UPI000013C596 NM_001110556.1 deleterious(0) benign(0.091) 8/48 Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR43998,hmmpanther:PTHR43998:SF6,SMART_domains:SM00557,Superfamily_domains:SSF81296 MODERATE 1 SNV 1 1 PASS CAA . . 154366324 PRRC2C . GRCh38 chr1 171532758 171532758 + Missense_Mutation SNP T T A novel 7316-384 BS_GSKG0MB0 T T c.1664T>A p.Met555Lys p.M555K ENST00000338920 12/34 112 95 7 32 32 0 PRRC2C,missense_variant,p.Met557Lys,ENST00000367742,;PRRC2C,missense_variant,p.Met555Lys,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Met555Lys,ENST00000426496,;PRRC2C,3_prime_UTR_variant,,ENST00000392078,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000476522,; A ENSG00000117523 ENST00000338920 Transcript missense_variant 1901/10355 1664/8454 555/2817 M/K aTg/aAg 1 1 PRRC2C HGNC HGNC:24903 protein_coding YES CCDS1296.2 ENSP00000343629 Q9Y520 UPI0000E265EC NM_015172.3 tolerated_low_confidence(0.05) benign(0.014) 12/34 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14038:SF6,hmmpanther:PTHR14038 MODERATE 1 SNV 5 PASS ATG . . 171532758 AC073311.1 . GRCh38 chr7 123069516 123069517 + Splice_Region INS - - A novel 7316-384 BS_GSKG0MB0 - - n.241-4dup ENST00000420146 51 35 11 29 25 0 AC073311.1,splice_region_variant,,ENST00000420146,; A ENSG00000226680 ENST00000420146 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AC073311.1 Clone_based_ensembl_gene lincRNA YES 3/3 LOW 1 insertion 5 PASS TGA . . 123069516 PRSS3P1 . GRCh38 chr7 142761635 142761635 + Splice_Site SNP G G A rs1042595433 7316-384 BS_GSKG0MB0 G G n.200+1G>A ENST00000503996 105 89 11 34 31 0 PRSS2,intron_variant,,ENST00000632998,;,regulatory_region_variant,,ENSR00000219298,;PRSS3P1,splice_donor_variant,,ENST00000503996,; A ENSG00000250591 ENST00000503996 Transcript splice_donor_variant,non_coding_transcript_variant rs1042595433 1 1 PRSS3P1 HGNC HGNC:43787 unprocessed_pseudogene YES 2/4 HIGH 1 SNV PASS AGT . . 142761635 DEFB104A . GRCh38 chr8 7841081 7841081 + Missense_Mutation SNP C C T rs144325550 7316-384 BS_GSKG0MB0 C C c.106C>T p.Arg36Cys p.R36C ENST00000314265 2/2 97 76 19 30 29 0 DEFB104A,missense_variant,p.Arg36Cys,ENST00000314265,NM_080389.2;,regulatory_region_variant,,ENSR00000329725,; T ENSG00000176782 ENST00000314265 Transcript missense_variant 120/281 106/219 36/72 R/C Cgt/Tgt rs144325550 1 1 DEFB104A HGNC HGNC:18115 protein_coding YES CCDS34834.1 ENSP00000320813 Q8WTQ1 UPI000013F79C NM_080389.2 deleterious(0.02) possibly_damaging(0.89) 2/2 PDB-ENSP_mappings:5ki9.A,blastprodom:PD505125,Pfam_domain:PF13841,hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF13 0.0009087 0.001988 MODERATE 1 SNV 1 PASS CCG . . 0.04478 0.02416 0.03418 0.0682 5.827e-05 0.07567 0.06098 0.0574 0.00755 7841081 JPH1 . GRCh38 chr8 74244688 74244695 + Frame_Shift_Del DEL GTGCACCA GTGCACCA - novel 7316-384 BS_GSKG0MB0 GTGCACCA GTGCACCA c.1739_1746del p.Leu580GlnfsTer5 p.L580Qfs*5 ENST00000342232 4/6 110 77 32 36 36 0 JPH1,frameshift_variant,p.Leu580GlnfsTer5,ENST00000342232,NM_020647.3,NM_001317830.1;JPH1,non_coding_transcript_exon_variant,,ENST00000518195,;JPH1,3_prime_UTR_variant,,ENST00000519947,; - ENSG00000104369 ENST00000342232 Transcript frameshift_variant 1780-1787/4378 1739-1746/1986 580-582/661 LVH/X cTGGTGCAC/c 1 -1 JPH1 HGNC HGNC:14201 protein_coding YES CCDS6217.1 ENSP00000344488 Q9HDC5 UPI000012DAC0 NM_020647.3,NM_001317830.1 4/6 mobidb-lite,hmmpanther:PTHR23085:SF6,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387 HIGH 1 deletion 1 1 PASS TTGTGCACCAG . . 74244687 AIF1L . GRCh38 chr9 131106242 131106242 + Missense_Mutation SNP T T C rs2315075 7316-384 BS_GSKG0MB0 T T c.148T>C p.Cys50Arg p.C50R ENST00000372309 3/7 110 37 72 35 30 5 AIF1L,missense_variant,p.Cys50Arg,ENST00000372309,NM_001185095.1;AIF1L,intron_variant,,ENST00000247291,NM_031426.3;AIF1L,intron_variant,,ENST00000372297,;AIF1L,intron_variant,,ENST00000372298,;AIF1L,intron_variant,,ENST00000372300,NM_001185096.1;AIF1L,intron_variant,,ENST00000372302,;AIF1L,intron_variant,,ENST00000472942,;AIF1L,intron_variant,,ENST00000372314,;AIF1L,intron_variant,,ENST00000478257,; C ENSG00000126878 ENST00000372309 Transcript missense_variant 302/3515 148/531 50/176 C/R Tgc/Cgc rs2315075,COSM329122 1 1 AIF1L HGNC HGNC:28904 protein_coding YES CCDS55348.1 ENSP00000361383 Q9BQI0 UPI00001C1012 NM_001185095.1 tolerated_low_confidence(0.52) benign(0) 3/7 hmmpanther:PTHR10356:SF5,hmmpanther:PTHR10356,Gene3D:1.10.238.10 0.2606 0.3033 0.3429 0.3323 0.16 0.1738 0,1 MODERATE 1 SNV 2 0,1 PASS CTG . . 0.2172 0.2921 0.3362 0.1299 0.3208 0.1429 0.181 0.2089 0.1612 131106242 JMJD1C . GRCh38 chr10 63197523 63197531 + In_Frame_Del DEL CTCCCGGAC CTCCCGGAC - novel 7316-384 BS_GSKG0MB0 CTCCCGGAC CTCCCGGAC c.5524_5532del p.Val1842_Glu1844del p.V1842_E1844del ENST00000399262 13/26 75 41 34 44 44 0 JMJD1C,inframe_deletion,p.Val1842_Glu1844del,ENST00000399262,NM_001322252.1,NM_032776.2;JMJD1C,inframe_deletion,p.Val1660_Glu1662del,ENST00000542921,NM_001322258.1,NM_001282948.1,NM_001318153.1,NM_001318154.1,NM_001322254.1;JMJD1C,inframe_deletion,p.Val1660_Glu1662del,ENST00000639129,;JMJD1C,inframe_deletion,p.Val389_Glu391del,ENST00000327520,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000402544,;JMJD1C,upstream_gene_variant,,ENST00000483298,;JMJD1C,upstream_gene_variant,,ENST00000490669,;JMJD1C,upstream_gene_variant,,ENST00000497922,;,regulatory_region_variant,,ENSR00000028920,; - ENSG00000171988 ENST00000399262 Transcript inframe_deletion 5743-5751/8666 5524-5532/7623 1842-1844/2540 VRE/- GTCCGGGAG/- 1 -1 JMJD1C HGNC HGNC:12313 protein_coding YES CCDS41532.1 ENSP00000382204 Q15652 UPI0000198BEF NM_001322252.1,NM_032776.2 13/26 hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6 MODERATE 1 deletion 5 1 PASS ATCTCCCGGACT . . 63197522 MKI67 . GRCh38 chr10 128106848 128106849 + Frame_Shift_Del DEL TG TG - rs145960091 7316-384 BS_GSKG0MB0 TG TG c.4991_4992del p.Thr1664ArgfsTer7 p.T1664Rfs*7 ENST00000368654 13/15 76 64 6 39 36 0 MKI67,frameshift_variant,p.Thr1664ArgfsTer7,ENST00000368654,NM_002417.4;MKI67,frameshift_variant,p.Thr1304ArgfsTer7,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;MKI67,downstream_gene_variant,,ENST00000484853,; - ENSG00000148773 ENST00000368654 Transcript frameshift_variant 5367-5368/12678 4991-4992/9771 1664/3256 T/X aCA/a rs145960091,COSM916119,COSM1579635 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 13/15 Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 HIGH 1 deletion 2 0,1,1 PASS TCTGT . . 0.0001637 0.0002609 0.000287 0.0002111 3.866e-05 128106847 SAA2 . GRCh38 chr11 18245931 18245931 + Missense_Mutation SNP G G A rs79620496 7316-384 BS_GSKG0MB0 G G c.209C>T p.Ala70Val p.A70V ENST00000526900 3/4 113 93 18 25 25 0 SAA2,missense_variant,p.Ala70Val,ENST00000414546,NM_001127380.2;SAA2,missense_variant,p.Ala70Val,ENST00000528349,;SAA2-SAA4,missense_variant,p.Ala70Val,ENST00000524555,NM_001199744.1;SAA2,missense_variant,p.Ala70Val,ENST00000526900,;SAA2,missense_variant,p.Ala70Val,ENST00000529528,;SAA2,missense_variant,p.Ala70Val,ENST00000256733,NM_030754.4;SAA2,missense_variant,p.Ala70Val,ENST00000530400,;RNA5SP333,downstream_gene_variant,,ENST00000363466,; A ENSG00000134339 ENST00000526900 Transcript missense_variant 393/687 209/369 70/122 A/V gCc/gTc rs79620496,COSM304951 1 -1 SAA2 HGNC HGNC:10514 protein_coding YES CCDS7833.1 ENSP00000436126 P0DJI9 UPI000016A553 tolerated(0.53) benign(0.003) 3/4 hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PROSITE_patterns:PS00992,PIRSF_domain:PIRSF002472,Pfam_domain:PF00277,SMART_domains:SM00197,Prints_domain:PR00306 0,1 MODERATE 1 SNV 2 0,1 PASS GGC . . 0.253 0.1924 0.1953 0.1803 0.09288 0.3457 0.3184 0.2376 0.1726 18245931 SNX15 . GRCh38 chr11 65035128 65035128 + Missense_Mutation SNP A A C rs1264440961 7316-384 BS_GSKG0MB0 A A c.442A>C p.Thr148Pro p.T148P ENST00000377244 5/8 117 96 15 38 36 1 SNX15,missense_variant,p.Thr148Pro,ENST00000377244,NM_013306.4;SNX15,missense_variant,p.Thr148Pro,ENST00000352068,NM_147777.3;SNX15,missense_variant,p.Thr144Pro,ENST00000534637,;SNX15,missense_variant,p.Thr136Pro,ENST00000524831,;SNX15,downstream_gene_variant,,ENST00000525648,;ARL2-SNX15,3_prime_UTR_variant,,ENST00000301886,;SNX15,non_coding_transcript_exon_variant,,ENST00000526702,;SNX15,downstream_gene_variant,,ENST00000529673,; C ENSG00000110025 ENST00000377244 Transcript missense_variant 572/1939 442/1029 148/342 T/P Acc/Ccc rs1264440961 1 1 SNX15 HGNC HGNC:14978 protein_coding YES CCDS8089.1 ENSP00000366452 Q9NRS6 E5KQS5 UPI0000135B4B NM_013306.4 tolerated(0.35) benign(0.406) 5/8 Low_complexity_(Seg):seg,hmmpanther:PTHR15508,hmmpanther:PTHR15508:SF7 MODERATE 1 SNV 1 PASS CAC . . 3.785e-05 0.0001175 0.0002926 3.695e-05 65035128 CCER1 . GRCh38 chr12 90954292 90954292 + Missense_Mutation SNP G G A 7316-384 BS_GSKG0MB0 G G c.451C>T p.Arg151Cys p.R151C ENST00000358859 1/1 95 90 5 35 34 0 CCER1,missense_variant,p.Arg151Cys,ENST00000358859,NM_152638.3;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;,regulatory_region_variant,,ENSR00000269528,; A ENSG00000197651 ENST00000358859 Transcript missense_variant 885/2962 451/1221 151/406 R/C Cgc/Tgc COSM5342240 1 -1 CCER1 HGNC HGNC:28373 protein_coding YES CCDS9036.1 ENSP00000351727 Q8TC90 UPI000006EE70 NM_152638.3 deleterious(0) probably_damaging(0.983) 1/1 Pfam_domain:PF15482,hmmpanther:PTHR37337,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 PASS CGC . . 90954292 TDG . GRCh38 chr12 103979950 103979951 + Frame_Shift_Ins INS - - A rs151041931 7316-384 BS_GSKG0MB0 - - c.292dup p.Ile98AsnfsTer6 p.I98Nfs*6 ENST00000392872 3/10 69 58 9 37 35 0 TDG,frameshift_variant,p.Ile98AsnfsTer6,ENST00000392872,NM_003211.4;TDG,frameshift_variant,p.Ile94AsnfsTer6,ENST00000266775,;TDG,frameshift_variant,p.Ile98AsnfsTer6,ENST00000537100,;TDG,frameshift_variant,p.Ile73AsnfsTer6,ENST00000436021,;TDG,5_prime_UTR_variant,,ENST00000544861,;TDG,non_coding_transcript_exon_variant,,ENST00000542926,;TDG,non_coding_transcript_exon_variant,,ENST00000544060,;TDG,non_coding_transcript_exon_variant,,ENST00000545698,;TDG,upstream_gene_variant,,ENST00000540956,; A ENSG00000139372 ENST00000392872 Transcript frameshift_variant 520-521/3251 286-287/1233 96/410 E/EX gaa/gAaa rs151041931 1 1 TDG HGNC HGNC:11700 protein_coding YES CCDS9095.1 ENSP00000376611 Q13569 UPI00000740E5 NM_003211.4 3/10 PDB-ENSP_mappings:5ff8.A,PDB-ENSP_mappings:5hf7.A,PDB-ENSP_mappings:5t2w.A,Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12159,hmmpanther:PTHR12159:SF11,TIGRFAM_domain:TIGR00584 0.4722 0.4947 0.4597 0.4802 0.4324 0.4836 0.4894 0.4221 HIGH 1 insertion 1 6 PASS AGA . . 0.4401 0.4916 0.4785 0.4537 0.4788 0.433 0.4073 0.433 0.4642 103979950 GOLGA6L2 . GRCh38 chr15 23447153 23447153 + Missense_Mutation SNP T T G rs1458792678 7316-384 BS_GSKG0MB0 T T c.29A>C p.His10Pro p.H10P ENST00000567107 1/8 64 46 13 34 31 0 GOLGA6L2,missense_variant,p.His10Pro,ENST00000567107,NM_001304388.1;GOLGA6L2,5_prime_UTR_variant,,ENST00000345070,;GOLGA6L2,5_prime_UTR_variant,,ENST00000312015,;GOLGA6L2,missense_variant,p.His10Pro,ENST00000566571,; G ENSG00000174450 ENST00000567107 Transcript missense_variant 82/3030 29/2730 10/909 H/P cAc/cCc rs1458792678,COSM6340013,COSM6340012,COSM6340011 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 deleterious_low_confidence(0) probably_damaging(0.932) 1/8 mobidb-lite,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS GTG . . 3.974e-05 7.474e-05 0.0001657 1.93e-05 3.466e-05 23447153 LINC02002 . GRCh38 chr17 22244736 22244737 + Splice_Region INS - - A novel 7316-384 BS_GSKG0MB0 - - n.612-4dup ENST00000578977 84 69 7 29 28 0 LINC02002,splice_region_variant,,ENST00000578977,;LINC02002,intron_variant,,ENST00000580507,;LINC02002,downstream_gene_variant,,ENST00000579836,; A ENSG00000263609 ENST00000578977 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 LINC02002 HGNC HGNC:52837 lincRNA YES 4/7 LOW 1 insertion 2 PASS TGA . . 22244736 ERN1 . GRCh38 chr17 64057905 64057905 + Missense_Mutation SNP C C T rs778878997 7316-384 BS_GSKG0MB0 C C c.1295G>A p.Arg432Gln p.R432Q ENST00000433197 12/22 64 42 22 28 27 0 ERN1,missense_variant,p.Arg432Gln,ENST00000433197,NM_001433.3;ERN1,upstream_gene_variant,,ENST00000583077,;ERN1,downstream_gene_variant,,ENST00000583896,; T ENSG00000178607 ENST00000433197 Transcript missense_variant 1391/7876 1295/2934 432/977 R/Q cGg/cAg rs778878997 1 -1 ERN1 HGNC HGNC:3449 protein_coding YES CCDS45762.1 ENSP00000401445 O75460 UPI0000201263 NM_001433.3 tolerated(0.58) benign(0.015) 12/22 hmmpanther:PTHR13954,hmmpanther:PTHR13954:SF17,mobidb-lite MODERATE 1 SNV 1 PASS CCG . . 2.053e-05 2.998e-05 5.843e-05 2.72e-05 64057905 AATK . GRCh38 chr17 81120325 81120325 + Missense_Mutation SNP G G A rs1338608572 7316-384 BS_GSKG0MB0 G G c.3611C>T p.Ala1204Val p.A1204V ENST00000326724 11/14 70 36 34 33 32 0 AATK,missense_variant,p.Ala1204Val,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Ala1101Val,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;MIR657,downstream_gene_variant,,ENST00000385003,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,3_prime_UTR_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,; A ENSG00000181409 ENST00000326724 Transcript missense_variant 3636/5257 3611/4125 1204/1374 A/V gCg/gTg rs1338608572 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 deleterious(0.02) possibly_damaging(0.824) 11/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,Low_complexity_(Seg):seg MODERATE SNV 5 PASS CGC . . 1.691e-05 8.986e-05 3.266e-05 81120325 THOC1 . GRCh38 chr18 265533 265533 + Splice_Region DEL A A - rs747944573 7316-384 BS_GSKG0MB0 A A c.55-3del ENST00000261600 77 65 5 34 29 0 THOC1,splice_region_variant,,ENST00000261600,NM_005131.2;THOC1,splice_region_variant,,ENST00000616322,;THOC1,splice_region_variant,,ENST00000631280,;THOC1,coding_sequence_variant,,ENST00000621904,;AP000845.1,upstream_gene_variant,,ENST00000581677,;THOC1,splice_region_variant,,ENST00000582313,;THOC1,splice_region_variant,,ENST00000578224,;THOC1,splice_region_variant,,ENST00000579232,;THOC1,splice_region_variant,,ENST00000580038,;THOC1,splice_region_variant,,ENST00000580544,;THOC1,splice_region_variant,,ENST00000580870,;THOC1,splice_region_variant,,ENST00000581116,;THOC1,splice_region_variant,,ENST00000581269,;THOC1,upstream_gene_variant,,ENST00000578529,; - ENSG00000079134 ENST00000261600 Transcript splice_region_variant,intron_variant rs747944573,COSM5548219 1 -1 THOC1 HGNC HGNC:19070 protein_coding YES CCDS45820.1 ENSP00000261600 Q96FV9 UPI0000071782 NM_005131.2 1/20 0,1 LOW 1 deletion 1 0,1 PASS CTAA . . 0.0007069 0.0006017 0.001782 0.0008378 0.0005341 0.0001632 0.0005675 0.001395 0.0006353 265532 GFY . GRCh38 chr19 49427089 49427089 + Missense_Mutation SNP A A C novel 7316-384 BS_GSKG0MB0 A A c.659A>C p.Asn220Thr p.N220T ENST00000576655 3/5 75 62 6 30 29 0 GFY,missense_variant,p.Asn220Thr,ENST00000576655,;GFY,missense_variant,p.Asn220Thr,ENST00000610896,NM_001195256.1;SLC17A7,downstream_gene_variant,,ENST00000221485,NM_020309.3;PTH2,upstream_gene_variant,,ENST00000270631,NM_178449.3;SLC17A7,downstream_gene_variant,,ENST00000600601,;SLC17A7,downstream_gene_variant,,ENST00000600672,; C ENSG00000261949 ENST00000576655 Transcript missense_variant 978/1876 659/1557 220/518 N/T aAc/aCc 1 1 GFY HGNC HGNC:44663 protein_coding YES CCDS58672.1 ENSP00000459439 I3L273 UPI000153482F tolerated(0.31) benign(0) 3/5 mobidb-lite MODERATE SNV 5 PASS AAC . . 49427089 BFSP1 . GRCh38 chr20 17541201 17541202 + Splice_Region INS - - A rs1187457114 7316-384 BS_GSKG0MB0 - - c.-175-3dup ENST00000536626 68 50 10 44 40 0 BFSP1,splice_region_variant,,ENST00000536626,NM_001278607.1,NM_001278606.1,NM_001278608.1;BFSP1,intron_variant,,ENST00000377868,NM_001161705.1;BFSP1,intron_variant,,ENST00000473415,; A ENSG00000125864 ENST00000536626 Transcript splice_region_variant,intron_variant rs1187457114 1 -1 BFSP1 HGNC HGNC:1040 protein_coding CCDS63229.1 ENSP00000442522 Q12934 UPI0000E0649F NM_001278607.1,NM_001278606.1,NM_001278608.1 1/8 LOW insertion 2 1 PASS CTA . . 17541201 RIMS4 . GRCh38 chr20 44758155 44758155 + Missense_Mutation SNP G G A 7316-384 BS_GSKG0MB0 G G c.269C>T p.Ser90Leu p.S90L ENST00000541604 3/6 64 36 27 26 26 0 RIMS4,missense_variant,p.Ser89Leu,ENST00000372851,NM_182970.3;RIMS4,missense_variant,p.Ser90Leu,ENST00000541604,NM_001205317.1; A ENSG00000101098 ENST00000541604 Transcript missense_variant 269/1036 269/813 90/270 S/L tCg/tTg COSM4440606 1 -1 RIMS4 HGNC HGNC:16183 protein_coding YES CCDS56191.1 ENSP00000439287 Q9H426 UPI0000367043 NM_001205317.1 deleterious_low_confidence(0) benign(0.115) 3/6 hmmpanther:PTHR12157:SF17,hmmpanther:PTHR12157 1 MODERATE 1 SNV 1 1 PASS CGA . . 44758155 MMEL1 . GRCh38 chr1 2629520 2629520 + Splice_Region SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.-36T>G ENST00000378412 2/24 61 48 13 47 44 3 MMEL1,splice_region_variant,,ENST00000378412,NM_033467.3;MMEL1,upstream_gene_variant,,ENST00000502556,;AL831784.1,upstream_gene_variant,,ENST00000427302,;MMEL1,downstream_gene_variant,,ENST00000511099,;MMEL1,upstream_gene_variant,,ENST00000504800,;,regulatory_region_variant,,ENSR00000000377,; C ENSG00000142606 ENST00000378412 Transcript splice_region_variant,5_prime_UTR_variant 127/2849 1 -1 MMEL1 HGNC HGNC:14668 protein_coding YES CCDS30569.2 ENSP00000367668 Q495T6 UPI0000047596 NM_033467.3 2/24 LOW 1 SNV 2 1 PASS AAC . . 2629520 IQCC . GRCh38 chr1 32207296 32207296 + Missense_Mutation SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.855A>C p.Glu285Asp p.E285D ENST00000537469 5/5 43 35 7 43 43 0 IQCC,missense_variant,p.Glu285Asp,ENST00000537469,NM_001160042.1;IQCC,missense_variant,p.Glu205Asp,ENST00000291358,NM_018134.2;CCDC28B,downstream_gene_variant,,ENST00000373602,NM_024296.4;DCDC2B,upstream_gene_variant,,ENST00000409358,NM_001099434.1;CCDC28B,downstream_gene_variant,,ENST00000421922,NM_001301011.1;AL049795.1,upstream_gene_variant,,ENST00000373604,;AL049795.1,upstream_gene_variant,,ENST00000421616,;CCDC28B,downstream_gene_variant,,ENST00000483009,;IQCC,non_coding_transcript_exon_variant,,ENST00000617816,;CCDC28B,downstream_gene_variant,,ENST00000461819,;CCDC28B,downstream_gene_variant,,ENST00000469003,;DCDC2B,upstream_gene_variant,,ENST00000487056,; C ENSG00000160051 ENST00000537469 Transcript missense_variant 866/2252 855/1641 285/546 E/D gaA/gaC 1 1 IQCC HGNC HGNC:25545 protein_coding YES CCDS53293.1 ENSP00000442291 Q4KMZ1 UPI0001A42065 NM_001160042.1 tolerated(0.22) benign(0.003) 5/5 hmmpanther:PTHR16049 MODERATE 1 SNV 1 PASS AAC . . 32207296 RPAP2 . GRCh38 chr1 92299074 92299074 + Translation_Start_Site SNP A A C rs1242428174 7316-2757 BS_P2QCH2SY A A c.1A>C p.Met1? p.M1? ENST00000610020 1/13 42 30 6 54 50 3 RPAP2,start_lost,p.Met1?,ENST00000610020,NM_024813.2;GLMN,upstream_gene_variant,,ENST00000370360,NM_001319683.1,NM_053274.2;RPAP2,upstream_gene_variant,,ENST00000484158,;GLMN,upstream_gene_variant,,ENST00000487911,;GLMN,upstream_gene_variant,,ENST00000495106,;,regulatory_region_variant,,ENSR00000009821,; C ENSG00000122484 ENST00000610020 Transcript start_lost 110/16993 1/1839 1/612 M/L Atg/Ctg rs1242428174 1 1 RPAP2 HGNC HGNC:25791 protein_coding YES CCDS740.1 ENSP00000476948 Q8IXW5 UPI0000074323 NM_024813.2 deleterious_low_confidence(0) possibly_damaging(0.661) 1/13 mobidb-lite HIGH 1 SNV 1 PASS CAT . . 92299074 ZNF697 . GRCh38 chr1 119623115 119623115 + Missense_Mutation SNP T T G rs1299632821 7316-2757 BS_P2QCH2SY T T c.1228A>C p.Met410Leu p.M410L ENST00000421812 3/3 78 62 11 43 41 0 ZNF697,missense_variant,p.Met410Leu,ENST00000421812,NM_001080470.1; G ENSG00000143067 ENST00000421812 Transcript missense_variant 1348/5041 1228/1638 410/545 M/L Atg/Ctg rs1299632821 1 -1 ZNF697 HGNC HGNC:32034 protein_coding YES CCDS44202.1 ENSP00000396857 Q5TEC3 UPI0000DD78D7 NM_001080470.1 tolerated(0.17) benign(0.294) 3/3 Gene3D:2.20.28.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR44153,hmmpanther:PTHR44153:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS ATG . . 119623115 FLG2 . GRCh38 chr1 152352104 152352104 + Missense_Mutation SNP A A C rs779449581 7316-2757 BS_P2QCH2SY A A c.5682T>G p.His1894Gln p.H1894Q ENST00000388718 3/3 79 64 5 45 44 1 FLG2,missense_variant,p.His1894Gln,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 5755/9124 5682/7176 1894/2391 H/Q caT/caG rs779449581,COSM6263567 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) possibly_damaging(0.879) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS TAT . . 8.269e-06 1.808e-05 152352104 FLG2 . GRCh38 chr1 152352577 152352577 + Missense_Mutation SNP A A G rs1331865211 7316-2757 BS_P2QCH2SY A A c.5209T>C p.Tyr1737His p.Y1737H ENST00000388718 3/3 67 51 7 55 54 0 FLG2,missense_variant,p.Tyr1737His,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 5282/9124 5209/7176 1737/2391 Y/H Tac/Cac rs1331865211,COSM6287230 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487 0,1 MODERATE SNV 5 0,1 1 PASS TAC . . 152352577 F5 . GRCh38 chr1 169541053 169541053 + Missense_Mutation SNP G G C novel 7316-2757 BS_P2QCH2SY G G c.4037C>G p.Thr1346Arg p.T1346R ENST00000367797 13/25 50 37 7 28 28 0 F5,missense_variant,p.Thr1351Arg,ENST00000367796,;F5,missense_variant,p.Thr1346Arg,ENST00000367797,NM_000130.4; C ENSG00000198734 ENST00000367797 Transcript missense_variant 4239/7024 4037/6675 1346/2224 T/R aCa/aGa 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(0.22) benign(0.039) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199,mobidb-lite MODERATE 1 SNV 1 1 PASS TGT . . 169541053 IGFN1 . GRCh38 chr1 201211573 201211573 + Missense_Mutation SNP G G A rs1212936908 7316-2757 BS_P2QCH2SY G G c.6680G>A p.Gly2227Glu p.G2227E ENST00000335211 12/24 39 27 6 44 43 0 IGFN1,missense_variant,p.Gly2227Glu,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,; A ENSG00000163395 ENST00000335211 Transcript missense_variant 6810/11810 6680/11127 2227/3708 G/E gGg/gAg rs1212936908,COSM5956823 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.06) benign(0.015) 12/24 mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 2.199e-05 0.0001245 3.58e-05 201211573 ITPKB . GRCh38 chr1 226736382 226736382 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.1077A>C p.Glu359Asp p.E359D ENST00000429204 2/8 54 45 9 53 51 2 ITPKB,missense_variant,p.Glu359Asp,ENST00000429204,NM_002221.3;ITPKB,missense_variant,p.Glu359Asp,ENST00000272117,;ITPKB,missense_variant,p.Glu359Asp,ENST00000366784,; G ENSG00000143772 ENST00000429204 Transcript missense_variant 1417/6162 1077/2841 359/946 E/D gaA/gaC 1 -1 ITPKB HGNC HGNC:6179 protein_coding YES CCDS1555.1 ENSP00000411152 P27987 UPI000013D92B NM_002221.3 tolerated_low_confidence(0.08) benign(0.012) 2/8 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TTT . . 226736382 ZNF678 . GRCh38 chr1 227654718 227654718 + Missense_Mutation SNP C C A 7316-2757 BS_P2QCH2SY C C c.468C>A p.Asp156Glu p.D156E ENST00000343776 4/4 76 66 9 34 32 1 ZNF678,missense_variant,p.Asp156Glu,ENST00000343776,;ZNF678,missense_variant,p.Asp156Glu,ENST00000397097,;ZNF678,missense_variant,p.Asp211Glu,ENST00000440339,NM_178549.3;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000465266,; A ENSG00000181450 ENST00000343776 Transcript missense_variant 813/8556 468/1578 156/525 D/E gaC/gaA COSM904888,COSM3396148,COSM3396147,COSM1151987 1 1 ZNF678 HGNC HGNC:28652 protein_coding YES ENSP00000344828 Q5SXM1 UPI000019862A tolerated(1) benign(0.012) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF714,hmmpanther:PTHR24377:SF714,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1,1,1 MODERATE 1 SNV 1 1,1,1,1 PASS ACG . . 227654718 FOXI3 . GRCh38 chr2 88452261 88452261 + Missense_Mutation SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.275T>G p.Phe92Cys p.F92C ENST00000428390 1/2 51 35 11 13 13 0 FOXI3,missense_variant,p.Phe92Cys,ENST00000428390,NM_001135649.1;,regulatory_region_variant,,ENSR00000119961,; C ENSG00000214336 ENST00000428390 Transcript missense_variant 396/2804 275/1263 92/420 F/C tTt/tGt 1 -1 FOXI3 HGNC HGNC:35123 protein_coding YES CCDS77433.1 ENSP00000478384 A8MTJ6 UPI0001812296 NM_001135649.1 deleterious(0) benign(0.431) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF137 MODERATE 1 SNV 3 PASS AAA . . 88452261 NEB . GRCh38 chr2 151592126 151592126 + Missense_Mutation SNP T T C rs10909569 7316-2757 BS_P2QCH2SY T T c.14734A>G p.Asn4912Asp p.N4912D ENST00000618972 95/183 81 64 15 43 42 1 NEB,missense_variant,p.Asn4912Asp,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Asn4912Asp,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Asn4912Asp,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Asn4912Asp,ENST00000603639,;NEB,missense_variant,p.Asn4912Asp,ENST00000604864,;NEB,intron_variant,,ENST00000172853,;NEB,intron_variant,,ENST00000409198,NM_004543.4;,regulatory_region_variant,,ENSR00000294126,; C ENSG00000183091 ENST00000618972 Transcript missense_variant 14937/26307 14734/25683 4912/8560 N/D Aat/Gat rs10909569,COSM4001216,COSM4001215 1 -1 NEB HGNC HGNC:7720 protein_coding YES CCDS74588.1 ENSP00000484342 A0A087X1N7 UPI0004E4CCB0 NM_001271208.1 tolerated(0.09) benign(0.249) 95/183 Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227 benign 0,1,1 25741868 MODERATE 1 SNV 5 0,1,1 1 PASS TTG . . 0.1233 0.02082 0.1446 0.08333 0.1206 0.1185 0.1625 0.1276 0.07249 151592126 RETREG2 . GRCh38 chr2 219178353 219178353 + Translation_Start_Site SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.1A>C p.Met1? p.M1? ENST00000430297 1/9 65 49 10 60 58 2 RETREG2,start_lost,p.Met1?,ENST00000430297,NM_024293.5;RETREG2,intron_variant,,ENST00000443757,;RETREG2,intron_variant,,ENST00000458520,NM_001321110.1,NM_001321109.1;CNPPD1,upstream_gene_variant,,ENST00000360507,NM_001321390.1,NM_015680.5,NM_001321391.1;CNPPD1,upstream_gene_variant,,ENST00000409789,NM_001321389.1;RETREG2,upstream_gene_variant,,ENST00000420189,;RETREG2,upstream_gene_variant,,ENST00000430747,;CNPPD1,upstream_gene_variant,,ENST00000451647,;RETREG2,upstream_gene_variant,,ENST00000452022,;CNPPD1,upstream_gene_variant,,ENST00000453038,;RETREG2,start_lost,p.Met1?,ENST00000273048,;RETREG2,start_lost,p.Met1?,ENST00000452293,;RETREG2,upstream_gene_variant,,ENST00000465672,;RETREG2,upstream_gene_variant,,ENST00000481925,;,regulatory_region_variant,,ENSR00000130512,; C ENSG00000144567 ENST00000430297 Transcript start_lost 137/4618 1/1632 1/543 M/L Atg/Ctg 1 1 RETREG2 HGNC HGNC:28450 protein_coding YES CCDS2434.1 ENSP00000395249 Q8NC44 UPI000013D996 NM_024293.5 deleterious_low_confidence(0) benign(0.088) 1/9 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS TAT . . 219178353 RUVBL1 . GRCh38 chr3 128123594 128123594 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.131A>C p.Asn44Thr p.N44T ENST00000322623 1/11 81 66 15 53 52 0 RUVBL1,missense_variant,p.Asn44Thr,ENST00000322623,NM_003707.2,NM_001319084.1;RUVBL1,intron_variant,,ENST00000464873,NM_001319086.1;,regulatory_region_variant,,ENSR00000158057,; G ENSG00000175792 ENST00000322623 Transcript missense_variant 231/1761 131/1371 44/456 N/T aAc/aCc 1 -1 RUVBL1 HGNC HGNC:10474 protein_coding YES CCDS3047.1 ENSP00000318297 Q9Y265 UPI0000044739 NM_003707.2,NM_001319084.1 tolerated(0.35) benign(0) 1/11 cd00009,hmmpanther:PTHR11093:SF6,hmmpanther:PTHR11093,Pfam_domain:PF06068,Gene3D:3.40.50.300,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS GTT . . 128123594 SIAH2 . GRCh38 chr3 150762738 150762738 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.112A>C p.Ile38Leu p.I38L ENST00000312960 1/2 47 38 7 21 20 1 SIAH2,missense_variant,p.Ile38Leu,ENST00000312960,NM_005067.5;SIAH2,intron_variant,,ENST00000482706,;SIAH2-AS1,downstream_gene_variant,,ENST00000461943,;SIAH2,intron_variant,,ENST00000472885,;,regulatory_region_variant,,ENSR00000306890,; G ENSG00000181788 ENST00000312960 Transcript missense_variant 640/2517 112/975 38/324 I/L Atc/Ctc 1 -1 SIAH2 HGNC HGNC:10858 protein_coding YES CCDS3152.1 ENSP00000322457 O43255 UPI0000071280 NM_005067.5 tolerated(0.59) benign(0) 1/2 hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF11,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATG . . 150762738 MUC4 . GRCh38 chr3 195785165 195785165 + Missense_Mutation SNP T T A rs1471617501 7316-2757 BS_P2QCH2SY T T c.6415A>T p.Thr2139Ser p.T2139S ENST00000463781 2/25 57 40 10 43 40 0 MUC4,missense_variant,p.Thr2139Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr2139Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr2139Ser,ENST00000478156,;MUC4,missense_variant,p.Thr2139Ser,ENST00000466475,;MUC4,missense_variant,p.Thr2139Ser,ENST00000477756,;MUC4,missense_variant,p.Thr2139Ser,ENST00000477086,;MUC4,missense_variant,p.Thr2139Ser,ENST00000480843,;MUC4,missense_variant,p.Thr2139Ser,ENST00000462323,;MUC4,missense_variant,p.Thr2139Ser,ENST00000470451,;MUC4,missense_variant,p.Thr2139Ser,ENST00000479406,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 6875/17110 6415/16239 2139/5412 T/S Aca/Tca rs1471617501 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.02) benign(0.301) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS GTG . . 195785165 MUC4 . GRCh38 chr3 195788323 195788323 + Missense_Mutation SNP G G C rs201370057 7316-2757 BS_P2QCH2SY G G c.3257C>G p.Thr1086Ser p.T1086S ENST00000463781 2/25 47 33 9 55 48 1 MUC4,missense_variant,p.Thr1086Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr1086Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr1086Ser,ENST00000478156,;MUC4,missense_variant,p.Thr1086Ser,ENST00000466475,;MUC4,missense_variant,p.Thr1086Ser,ENST00000477756,;MUC4,missense_variant,p.Thr1086Ser,ENST00000477086,;MUC4,missense_variant,p.Thr1086Ser,ENST00000480843,;MUC4,missense_variant,p.Thr1086Ser,ENST00000462323,;MUC4,missense_variant,p.Thr1086Ser,ENST00000470451,;MUC4,missense_variant,p.Thr1086Ser,ENST00000479406,;,regulatory_region_variant,,ENSR00000308220,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 3717/17110 3257/16239 1086/5412 T/S aCc/aGc rs201370057,COSM1042945 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.54) possibly_damaging(0.768) 2/25 mobidb-lite,hmmpanther:PTHR42668 0.0218 0.0582 0.0072 0.0159 0.0099 0.001 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGT . . 0.0006471 0.002006 0.0002605 0.0001247 0.0003137 0.001252 0.0009207 0.0001353 195788323 PYURF . GRCh38 chr4 88523655 88523655 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.46A>C p.Thr16Pro p.T16P ENST00000273968 1/2 67 56 11 81 81 0 PYURF,missense_variant,p.Thr16Pro,ENST00000273968,NM_032906.4;AC098582.1,upstream_gene_variant,,ENST00000513325,;PIGY,upstream_gene_variant,,ENST00000527353,NM_001042616.2;AC083829.2,upstream_gene_variant,,ENST00000597259,;AC083829.2,upstream_gene_variant,,ENST00000598772,;,regulatory_region_variant,,ENSR00000170580,;AC083829.1,upstream_gene_variant,,ENST00000503756,; G ENSG00000145337 ENST00000273968 Transcript missense_variant 159/1361 46/345 16/114 T/P Acg/Ccg 1 -1 PYURF HGNC HGNC:44317 protein_coding YES CCDS3631.1 ENSP00000273968 Q96I23 UPI0000070EC8 NM_032906.4 tolerated(0.45) benign(0) 1/2 mobidb-lite,hmmpanther:PTHR33505 MODERATE 1 SNV 1 PASS GTT . . 88523655 ADAM29 . GRCh38 chr4 174977937 174977937 + Missense_Mutation SNP G G T rs146933346 7316-2757 BS_P2QCH2SY G G c.2412G>T p.Arg804Ser p.R804S ENST00000615367 6/6 68 52 8 40 39 0 ADAM29,missense_variant,p.Arg804Ser,ENST00000615367,NM_001278125.1;ADAM29,missense_variant,p.Arg804Ser,ENST00000359240,NM_014269.4,NM_001278126.1;ADAM29,missense_variant,p.Arg804Ser,ENST00000445694,NM_001130703.1;ADAM29,missense_variant,p.Arg804Ser,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Arg804Ser,ENST00000514159,NM_001130705.1;ADAM29,missense_variant,p.Arg804Ser,ENST00000618444,NM_001278127.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;AC105914.2,intron_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,; T ENSG00000168594 ENST00000615367 Transcript missense_variant 3143/3386 2412/2463 804/820 R/S agG/agT rs146933346,COSM3337044,COSM1671444 1 1 ADAM29 HGNC HGNC:207 protein_coding YES CCDS3823.1 ENSP00000484862 Q9UKF5 A0A140VJD8 UPI000013E9DE NM_001278125.1 tolerated_low_confidence(0.25) benign(0) 6/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11905:SF34,hmmpanther:PTHR11905 0.0056 0.0014 0.0099 0.0109 0.0061 0,1,1 MODERATE SNV 5 0,1,1 PASS GGC . . 0.001321 0.0004655 0.0008676 0.003554 0.0001519 0.00067 0.001685 0.002121 0.001371 174977937 PRDM9 . GRCh38 chr5 23526740 23526740 + Missense_Mutation SNP T T C rs201513541 7316-2757 BS_P2QCH2SY T T c.1652T>C p.Leu551Pro p.L551P ENST00000296682 11/11 98 79 12 46 43 0 PRDM9,missense_variant,p.Leu551Pro,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,; C ENSG00000164256 ENST00000296682 Transcript missense_variant 1834/3691 1652/2685 551/894 L/P cTc/cCc rs201513541,COSM6209586 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(1) benign(0.001) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,Gene3D:2.30.30.380,PIRSF_domain:PIRSF013212,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CTC . . 2.848e-05 2.979e-05 0.0001951 23526740 TCOF1 . GRCh38 chr5 150374984 150374984 + Missense_Mutation SNP A A G rs1426165570 7316-2757 BS_P2QCH2SY A A c.1309A>G p.Arg437Gly p.R437G ENST00000377797 10/27 84 69 10 63 60 1 TCOF1,missense_variant,p.Arg437Gly,ENST00000377797,NM_001135243.1;TCOF1,missense_variant,p.Arg437Gly,ENST00000642994,;TCOF1,missense_variant,p.Arg437Gly,ENST00000643257,;TCOF1,missense_variant,p.Arg360Gly,ENST00000323668,NM_000356.3;TCOF1,missense_variant,p.Arg360Gly,ENST00000445265,NM_001135245.1;TCOF1,missense_variant,p.Arg437Gly,ENST00000427724,NM_001195141.1;TCOF1,missense_variant,p.Arg437Gly,ENST00000513346,;TCOF1,missense_variant,p.Arg437Gly,ENST00000439160,NM_001135244.1;TCOF1,missense_variant,p.Arg437Gly,ENST00000504761,;TCOF1,missense_variant,p.Arg437Gly,ENST00000513538,;TCOF1,missense_variant,p.Arg437Gly,ENST00000394269,NM_001008657.2;TCOF1,missense_variant,p.Arg289Gly,ENST00000646961,;TCOF1,intron_variant,,ENST00000515516,;TCOF1,upstream_gene_variant,,ENST00000506063,;TCOF1,non_coding_transcript_exon_variant,,ENST00000515035,;TCOF1,non_coding_transcript_exon_variant,,ENST00000514442,;TCOF1,upstream_gene_variant,,ENST00000506767,;TCOF1,downstream_gene_variant,,ENST00000643812,; G ENSG00000070814 ENST00000377797 Transcript missense_variant 1417/5095 1309/4467 437/1488 R/G Aga/Gga rs1426165570 1 1 TCOF1 HGNC HGNC:11654 protein_coding YES CCDS54936.1 ENSP00000367028 Q13428 UPI0000EE3736 NM_001135243.1 deleterious(0.04) possibly_damaging(0.481) 10/27 Pfam_domain:PF03546,hmmpanther:PTHR20787,mobidb-lite MODERATE 1 SNV 5 1 PASS CAG . . 150374984 TCOF1 . GRCh38 chr5 150375087 150375087 + Missense_Mutation SNP A A G rs1441430438 7316-2757 BS_P2QCH2SY A A c.1412A>G p.Gln471Arg p.Q471R ENST00000377797 10/27 75 55 10 77 71 1 TCOF1,missense_variant,p.Gln471Arg,ENST00000377797,NM_001135243.1;TCOF1,missense_variant,p.Gln471Arg,ENST00000642994,;TCOF1,missense_variant,p.Gln471Arg,ENST00000643257,;TCOF1,missense_variant,p.Gln394Arg,ENST00000323668,NM_000356.3;TCOF1,missense_variant,p.Gln394Arg,ENST00000445265,NM_001135245.1;TCOF1,missense_variant,p.Gln471Arg,ENST00000427724,NM_001195141.1;TCOF1,missense_variant,p.Gln471Arg,ENST00000513346,;TCOF1,missense_variant,p.Gln471Arg,ENST00000439160,NM_001135244.1;TCOF1,missense_variant,p.Gln471Arg,ENST00000504761,;TCOF1,missense_variant,p.Gln471Arg,ENST00000513538,;TCOF1,missense_variant,p.Gln471Arg,ENST00000394269,NM_001008657.2;TCOF1,intron_variant,,ENST00000515516,;TCOF1,downstream_gene_variant,,ENST00000646961,;TCOF1,upstream_gene_variant,,ENST00000506063,;TCOF1,non_coding_transcript_exon_variant,,ENST00000515035,;TCOF1,non_coding_transcript_exon_variant,,ENST00000514442,;TCOF1,upstream_gene_variant,,ENST00000506767,;TCOF1,downstream_gene_variant,,ENST00000643812,; G ENSG00000070814 ENST00000377797 Transcript missense_variant 1520/5095 1412/4467 471/1488 Q/R cAg/cGg rs1441430438 1 1 TCOF1 HGNC HGNC:11654 protein_coding YES CCDS54936.1 ENSP00000367028 Q13428 UPI0000EE3736 NM_001135243.1 tolerated(0.54) benign(0) 10/27 Pfam_domain:PF03546,hmmpanther:PTHR20787,mobidb-lite MODERATE 1 SNV 5 1 PASS CAG . . 150375087 NEURL1B . GRCh38 chr5 172683617 172683617 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.776T>G p.Ile259Ser p.I259S ENST00000369800 3/5 49 38 11 12 12 0 NEURL1B,missense_variant,p.Ile259Ser,ENST00000369800,NM_001142651.2;NEURL1B,missense_variant,p.Ile77Ser,ENST00000522853,NM_001308177.1;NEURL1B,intron_variant,,ENST00000520919,NM_001308178.1;,regulatory_region_variant,,ENSR00000190803,; G ENSG00000214357 ENST00000369800 Transcript missense_variant 917/6424 776/1668 259/555 I/S aTt/aGt 1 1 NEURL1B HGNC HGNC:35422 protein_coding YES CCDS47342.1 ENSP00000358815 A8MQ27 UPI0000D6E5EA NM_001142651.2 tolerated(0.11) possibly_damaging(0.719) 3/5 Low_complexity_(Seg):seg,hmmpanther:PTHR12429:SF10,hmmpanther:PTHR12429,Gene3D:1.10.1170.10 MODERATE 1 SNV 1 PASS ATT . . 172683617 ADAMTS2 . GRCh38 chr5 179125085 179125085 + Missense_Mutation SNP T T G rs376054177 7316-2757 BS_P2QCH2SY T T c.2846A>C p.Asn949Thr p.N949T ENST00000251582 19/22 76 61 13 43 42 1 ADAMTS2,missense_variant,p.Asn949Thr,ENST00000251582,NM_014244.4;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;ADAMTS2,upstream_gene_variant,,ENST00000523450,; G ENSG00000087116 ENST00000251582 Transcript missense_variant 2948/6754 2846/3636 949/1211 N/T aAc/aCc rs376054177,COSM1721135 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 tolerated(0.08) possibly_damaging(0.798) 19/22 Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,SMART_domains:SM00209,Superfamily_domains:SSF82895 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTT . . 3.39e-05 0.0001338 4.525e-05 3.682e-05 0.000192 179125085 ADAMTS2 . GRCh38 chr5 179125089 179125089 + Missense_Mutation SNP C C T rs758419331 7316-2757 BS_P2QCH2SY C C c.2842G>A p.Asp948Asn p.D948N ENST00000251582 19/22 79 67 5 42 42 0 ADAMTS2,missense_variant,p.Asp948Asn,ENST00000251582,NM_014244.4;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;ADAMTS2,upstream_gene_variant,,ENST00000523450,; T ENSG00000087116 ENST00000251582 Transcript missense_variant 2944/6754 2842/3636 948/1211 D/N Gac/Aac rs758419331,COSM1436475 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 tolerated(0.78) benign(0.04) 19/22 Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,SMART_domains:SM00209,Superfamily_domains:SSF82895 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCG . . 179125089 PNPLA1 . GRCh38 chr6 36293116 36293116 + Missense_Mutation SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.494A>C p.Tyr165Ser p.Y165S ENST00000394571 3/8 84 70 13 46 42 3 PNPLA1,missense_variant,p.Tyr70Ser,ENST00000388715,NM_173676.2;PNPLA1,missense_variant,p.Tyr74Ser,ENST00000636260,;PNPLA1,missense_variant,p.Tyr166Ser,ENST00000457797,;PNPLA1,missense_variant,p.Tyr165Ser,ENST00000394571,NM_001145717.1;PNPLA1,missense_variant,p.Tyr70Ser,ENST00000312917,NM_001145716.2; C ENSG00000180316 ENST00000394571 Transcript missense_variant 494/1599 494/1599 165/532 Y/S tAc/tCc 1 1 PNPLA1 HGNC HGNC:21246 protein_coding YES CCDS54997.1 ENSP00000378072 Q8N8W4 B8XXQ3 UPI000189560E NM_001145717.1 deleterious(0) probably_damaging(0.973) 3/8 PROSITE_profiles:PS51635,cd07219,hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF23,Gene3D:3.40.1090.10,Superfamily_domains:SSF52151 MODERATE 1 SNV 1 1 PASS TAC . . 36293116 FAM120B . GRCh38 chr6 170318478 170318478 + Missense_Mutation SNP G G A rs753893816 7316-2757 BS_P2QCH2SY G G c.1157G>A p.Arg386Gln p.R386Q ENST00000537664 2/11 60 44 8 29 25 1 FAM120B,missense_variant,p.Arg363Gln,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Arg375Gln,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Arg386Gln,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; A ENSG00000112584 ENST00000537664 Transcript missense_variant 1242/3212 1157/2802 386/933 R/Q cGa/cAa rs753893816,COSM741061,COSM6658221,COSM6658220 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(1) benign(0) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 0,1,1,1 MODERATE 1 SNV 2 0,1,1,1 PASS CGA . . 2.041e-05 6.59e-05 0.000131 170318478 DNAAF5 . GRCh38 chr7 726925 726925 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.205T>G p.Phe69Val p.F69V ENST00000297440 1/13 55 43 10 24 24 0 DNAAF5,missense_variant,p.Phe69Val,ENST00000297440,NM_017802.3;PRKAR1B,intron_variant,,ENST00000403562,NM_001164758.1;PRKAR1B,intron_variant,,ENST00000417852,;PRKAR1B,intron_variant,,ENST00000537384,NM_001164760.1;DNAAF5,upstream_gene_variant,,ENST00000437419,;DNAAF5,upstream_gene_variant,,ENST00000440747,;PRKAR1B,non_coding_transcript_exon_variant,,ENST00000478198,;PRKAR1B,intron_variant,,ENST00000488474,;DNAAF5,upstream_gene_variant,,ENST00000438961,;,regulatory_region_variant,,ENSR00000207477,; G ENSG00000164818 ENST00000297440 Transcript missense_variant 225/3410 205/2568 69/855 F/V Ttc/Gtc 1 1 DNAAF5 HGNC HGNC:26013 protein_coding YES CCDS34580.1 ENSP00000297440 Q86Y56 UPI0000D61BE2 NM_017802.3 tolerated(0.05) benign(0.081) 1/13 hmmpanther:PTHR16216,hmmpanther:PTHR16216:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 1 PASS TTT . . 726925 GNA12 . GRCh38 chr7 2844070 2844070 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.92A>C p.Asp31Ala p.D31A ENST00000275364 1/4 32 26 6 10 10 0 GNA12,missense_variant,p.Asp31Ala,ENST00000275364,NM_007353.2,NM_001293092.1;,regulatory_region_variant,,ENSR00000207862,; G ENSG00000146535 ENST00000275364 Transcript missense_variant 255/4378 92/1146 31/381 D/A gAc/gCc 1 -1 GNA12 HGNC HGNC:4380 protein_coding YES CCDS5335.1 ENSP00000275364 Q03113 UPI000013DA5B NM_007353.2,NM_001293092.1 tolerated(0.43) benign(0) 1/4 Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTC . . 2844070 MUC3A . GRCh38 chr7 100955552 100955552 + Missense_Mutation SNP C C A rs1419847066 7316-2757 BS_P2QCH2SY C C c.3773C>A p.Thr1258Asn p.T1258N ENST00000379458 2/12 91 74 17 80 77 2 MUC3A,missense_variant,p.Thr1258Asn,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Thr1258Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 3843/11226 3773/9972 1258/3323 T/N aCc/aAc rs1419847066 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 tolerated_low_confidence(0.08) unknown(0) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22 MODERATE 1 SNV 5 PASS ACC . . 100955552 MUC17 . GRCh38 chr7 101033137 101033137 + Missense_Mutation SNP A A G rs1192457625 7316-2757 BS_P2QCH2SY A A c.1721A>G p.Asn574Ser p.N574S ENST00000306151 3/13 71 53 5 32 30 0 MUC17,missense_variant,p.Asn574Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn574Ser,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 1785/14247 1721/13482 574/4493 N/S aAc/aGc rs1192457625,COSM4166561 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 101033137 MUC17 . GRCh38 chr7 101038504 101038504 + Missense_Mutation SNP C C T novel 7316-2757 BS_P2QCH2SY C C c.7088C>T p.Ala2363Val p.A2363V ENST00000306151 3/13 48 36 6 31 29 0 MUC17,missense_variant,p.Ala2363Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala2363Val,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 7152/14247 7088/13482 2363/4493 A/V gCt/gTt 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.001) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCT . . 101038504 MUC17 . GRCh38 chr7 101040524 101040524 + Missense_Mutation SNP A A G rs746877522 7316-2757 BS_P2QCH2SY A A c.9108A>G p.Ile3036Met p.I3036M ENST00000306151 3/13 56 42 5 35 33 0 MUC17,missense_variant,p.Ile3036Met,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile3036Met,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 9172/14247 9108/13482 3036/4493 I/M atA/atG rs746877522,COSM6717648,COSM3784029 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.177) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TAC . . 1.279e-05 6.845e-05 9.178e-06 3.532e-05 101040524 MUC17 . GRCh38 chr7 101041663 101041663 + Missense_Mutation SNP T T A 7316-2757 BS_P2QCH2SY T T c.10247T>A p.Val3416Asp p.V3416D ENST00000306151 3/13 63 47 5 37 36 1 MUC17,missense_variant,p.Val3416Asp,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Val3416Asp,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 10311/14247 10247/13482 3416/4493 V/D gTt/gAt COSM6292972 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.11) possibly_damaging(0.841) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS GTT . . 101041663 ATG9B . GRCh38 chr7 151016689 151016689 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.2422A>C p.Ser808Arg p.S808R ENST00000639579 10/17 62 41 11 46 42 2 ATG9B,missense_variant,p.Ser808Arg,ENST00000639579,;ATG9B,missense_variant,p.Ser808Arg,ENST00000469530,NM_001317056.1;NOS3,downstream_gene_variant,,ENST00000297494,NM_000603.4;NOS3,downstream_gene_variant,,ENST00000461406,;NOS3,downstream_gene_variant,,ENST00000475017,;ATG9B,splice_region_variant,,ENST00000617967,;ATG9B,splice_region_variant,,ENST00000611177,;ATG9B,downstream_gene_variant,,ENST00000466157,;NOS3,downstream_gene_variant,,ENST00000468293,;ATG9B,downstream_gene_variant,,ENST00000473409,;ATG9B,upstream_gene_variant,,ENST00000476282,;NOS3,downstream_gene_variant,,ENST00000477227,;ATG9B,upstream_gene_variant,,ENST00000498521,;ATG9B,missense_variant,p.Ser808Arg,ENST00000605952,;ATG9B,upstream_gene_variant,,ENST00000404733,;ATG9B,upstream_gene_variant,,ENST00000471797,;ATG9B,downstream_gene_variant,,ENST00000473134,;NOS3,downstream_gene_variant,,ENST00000475454,; G ENSG00000181652 ENST00000639579 Transcript missense_variant,splice_region_variant 2498/4539 2422/2775 808/924 S/R Agc/Cgc 1 -1 ATG9B HGNC HGNC:21899 protein_coding YES CCDS83242.1 ENSP00000491504 Q674R7 UPI00004286C0 tolerated(0.09) possibly_damaging(0.731) 10/17 hmmpanther:PTHR13038,hmmpanther:PTHR13038:SF14 MODERATE 1 SNV 1 PASS CTG . . 151016689 ZBTB10 . GRCh38 chr8 80487014 80487014 + Missense_Mutation SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.204A>C p.Glu68Asp p.E68D ENST00000430430 2/7 62 49 9 45 44 0 ZBTB10,missense_variant,p.Glu68Asp,ENST00000430430,;ZBTB10,missense_variant,p.Glu68Asp,ENST00000426744,NM_023929.4;ZBTB10,missense_variant,p.Glu68Asp,ENST00000455036,NM_001105539.2;ZBTB10,intron_variant,,ENST00000379091,NM_001277145.1;ZBTB10,intron_variant,,ENST00000610895,;AC034114.2,downstream_gene_variant,,ENST00000644465,;RF00019,upstream_gene_variant,,ENST00000516058,;AC009812.1,upstream_gene_variant,,ENST00000605948,;,regulatory_region_variant,,ENSR00000226302,; C ENSG00000205189 ENST00000430430 Transcript missense_variant 983/10132 204/2616 68/871 E/D gaA/gaC 1 1 ZBTB10 HGNC HGNC:30953 protein_coding YES CCDS47880.1 ENSP00000387462 Q96DT7 UPI0000E5AEF3 deleterious_low_confidence(0) benign(0.089) 2/7 mobidb-lite MODERATE 1 SNV 5 PASS AAT . . 80487014 UTP23 . GRCh38 chr8 116766764 116766764 + Missense_Mutation SNP T T G rs537971398 7316-2757 BS_P2QCH2SY T T c.161T>G p.Met54Arg p.M54R ENST00000309822 1/3 64 51 12 58 57 1 UTP23,missense_variant,p.Met54Arg,ENST00000309822,NM_032334.2;UTP23,missense_variant,p.Met54Arg,ENST00000517820,;UTP23,missense_variant,p.Met54Arg,ENST00000517814,;EIF3H,5_prime_UTR_variant,,ENST00000520813,;EIF3H,upstream_gene_variant,,ENST00000276682,;UTP23,upstream_gene_variant,,ENST00000520733,;UTP23,missense_variant,p.Met54Arg,ENST00000521703,;UTP23,missense_variant,p.Met54Arg,ENST00000521071,;UTP23,non_coding_transcript_exon_variant,,ENST00000519443,;UTP23,upstream_gene_variant,,ENST00000521974,;UTP23,upstream_gene_variant,,ENST00000524128,;,regulatory_region_variant,,ENSR00000229070,; G ENSG00000147679 ENST00000309822 Transcript missense_variant 262/3699 161/750 54/249 M/R aTg/aGg rs537971398,COSM1454434 1 1 UTP23 HGNC HGNC:28224 protein_coding YES CCDS6320.1 ENSP00000308332 Q9BRU9 UPI000013EF3A NM_032334.2 tolerated(0.35) benign(0.41) 1/3 cd09866,hmmpanther:PTHR12416:SF3,hmmpanther:PTHR12416,Pfam_domain:PF04900,Gene3D:3.40.50.1010,Superfamily_domains:SSF88723 0.0002 0.0008 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 3.756e-05 9.69e-05 3.773e-05 6.37e-05 116766764 COL22A1 . GRCh38 chr8 138594082 138594082 + Missense_Mutation SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.4550T>G p.Met1517Arg p.M1517R ENST00000303045 63/65 48 37 11 45 43 1 COL22A1,missense_variant,p.Met1517Arg,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Met1210Arg,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,; C ENSG00000169436 ENST00000303045 Transcript missense_variant 4997/6346 4550/4881 1517/1626 M/R aTg/aGg 1 -1 COL22A1 HGNC HGNC:22989 protein_coding YES CCDS6376.1 ENSP00000303153 Q8NFW1 UPI00001C1EA1 NM_152888.2 tolerated(0.24) benign(0.14) 63/65 mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF845,Pfam_domain:PF01391,Gene3D:2.160.20.50 MODERATE 1 SNV 1 PASS CAT . . 138594082 C9orf85 . GRCh38 chr9 71982781 71982781 + Missense_Mutation SNP G G A rs140727570 7316-2757 BS_P2QCH2SY G G c.448G>A p.Ala150Thr p.A150T ENST00000377031 4/4 59 50 6 34 33 0 C9orf85,missense_variant,p.Ala150Thr,ENST00000377031,;C9orf85,intron_variant,,ENST00000486911,; A ENSG00000155621 ENST00000377031 Transcript missense_variant 638/1107 448/540 150/179 A/T Gca/Aca rs140727570 1 1 C9orf85 HGNC HGNC:28784 protein_coding ENSP00000366230 Q96MD7 UPI00000721E2 tolerated_low_confidence(0.43) benign(0) 4/4 MODERATE 1 SNV 3 PASS CGC . . 0.0003644 0.0007728 0.001005 0.0004617 71982781 MEGF9 . GRCh38 chr9 120714240 120714240 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.119A>C p.Asn40Thr p.N40T ENST00000373930 1/6 63 51 9 56 50 5 MEGF9,missense_variant,p.Asn40Thr,ENST00000373930,NM_001080497.2;,regulatory_region_variant,,ENSR00000240796,; G ENSG00000106780 ENST00000373930 Transcript missense_variant 231/6298 119/1809 40/602 N/T aAt/aCt 1 -1 MEGF9 HGNC HGNC:3234 protein_coding YES CCDS48010.2 ENSP00000363040 Q9H1U4 UPI000045779F NM_001080497.2 deleterious_low_confidence(0) benign(0.221) 1/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF298 MODERATE 1 SNV 2 PASS ATT . . 120714240 DPP7 . GRCh38 chr9 137112206 137112206 + Missense_Mutation SNP G G C novel 7316-2757 BS_P2QCH2SY G G c.956C>G p.Ser319Cys p.S319C ENST00000371579 9/13 73 64 5 51 51 0 DPP7,missense_variant,p.Ser319Cys,ENST00000371579,NM_013379.2;DPP7,intron_variant,,ENST00000463619,;MAN1B1,downstream_gene_variant,,ENST00000371589,NM_016219.4;MAN1B1,downstream_gene_variant,,ENST00000475449,;DPP7,downstream_gene_variant,,ENST00000497375,;MAN1B1,downstream_gene_variant,,ENST00000535144,;MAN1B1,downstream_gene_variant,,ENST00000550113,;DPP7,downstream_gene_variant,,ENST00000473703,;MAN1B1,downstream_gene_variant,,ENST00000474902,;DPP7,missense_variant,p.Ser4Cys,ENST00000470766,;DPP7,3_prime_UTR_variant,,ENST00000473532,;DPP7,3_prime_UTR_variant,,ENST00000472306,;DPP7,non_coding_transcript_exon_variant,,ENST00000485456,;DPP7,non_coding_transcript_exon_variant,,ENST00000483783,;DPP7,downstream_gene_variant,,ENST00000460830,;DPP7,downstream_gene_variant,,ENST00000478597,;MAN1B1,downstream_gene_variant,,ENST00000480100,;DPP7,downstream_gene_variant,,ENST00000482088,;DPP7,downstream_gene_variant,,ENST00000491807,;MAN1B1,downstream_gene_variant,,ENST00000535028,;MAN1B1,downstream_gene_variant,,ENST00000536268,;MAN1B1,downstream_gene_variant,,ENST00000536349,;MAN1B1,downstream_gene_variant,,ENST00000540391,;MAN1B1,downstream_gene_variant,,ENST00000544448,; C ENSG00000176978 ENST00000371579 Transcript missense_variant 961/1590 956/1479 319/492 S/C tCc/tGc 1 -1 DPP7 HGNC HGNC:14892 protein_coding YES CCDS7030.1 ENSP00000360635 Q9UHL4 UPI00001AF169 NM_013379.2 deleterious(0.03) possibly_damaging(0.758) 9/13 Gene3D:3.40.50.1820,PDB-ENSP_mappings:3jyh.A,PDB-ENSP_mappings:3jyh.B,PDB-ENSP_mappings:3jyh.C,PDB-ENSP_mappings:3jyh.D,PDB-ENSP_mappings:3n0t.A,PDB-ENSP_mappings:3n0t.B,PDB-ENSP_mappings:3n0t.C,PDB-ENSP_mappings:3n0t.D,PDB-ENSP_mappings:4ebb.A,PDB-ENSP_mappings:4ebb.B,Pfam_domain:PF05577,hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF53,Superfamily_domains:SSF53474 MODERATE 1 SNV 1 PASS GGA . . 137112206 TRPM5 . GRCh38 chr11 2407133 2407133 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.3104A>C p.Lys1035Thr p.K1035T ENST00000155858 20/24 74 61 9 53 52 1 TRPM5,missense_variant,p.Lys1035Thr,ENST00000155858,NM_014555.3;TRPM5,missense_variant,p.Lys1029Thr,ENST00000533881,;TRPM5,missense_variant,p.Lys1035Thr,ENST00000533060,;TRPM5,missense_variant,p.Lys1035Thr,ENST00000528453,;TSSC4,downstream_gene_variant,,ENST00000333256,NM_001297660.1,NM_005706.3,NM_001297658.1;TSSC4,downstream_gene_variant,,ENST00000380992,;TSSC4,downstream_gene_variant,,ENST00000380996,NM_001297661.1;TSSC4,downstream_gene_variant,,ENST00000435795,;TSSC4,downstream_gene_variant,,ENST00000437110,;TSSC4,downstream_gene_variant,,ENST00000440813,;TSSC4,downstream_gene_variant,,ENST00000451491,NM_001297659.1;TSSC4,downstream_gene_variant,,ENST00000485682,;TSSC4,downstream_gene_variant,,ENST00000496468,;AC124057.1,intron_variant,,ENST00000433035,;TSSC4,downstream_gene_variant,,ENST00000467308,; G ENSG00000070985 ENST00000155858 Transcript missense_variant 3113/3929 3104/3498 1035/1165 K/T aAg/aCg 1 -1 TRPM5 HGNC HGNC:14323 protein_coding YES CCDS31340.1 ENSP00000155858 Q9NZQ8 UPI000003B069 NM_014555.3 tolerated(0.09) benign(0.124) 20/24 hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5 MODERATE 1 SNV 1 PASS CTT . . 2407133 AHNAK . GRCh38 chr11 62525650 62525650 + Missense_Mutation SNP C C G 7316-2757 BS_P2QCH2SY C C c.8767G>C p.Val2923Leu p.V2923L ENST00000378024 5/5 75 63 5 44 43 1 AHNAK,missense_variant,p.Val2923Leu,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; G ENSG00000124942 ENST00000378024 Transcript missense_variant 9042/18787 8767/17673 2923/5890 V/L Gtt/Ctt COSM6596742,COSM6596741,COSM383059 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.25) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,mobidb-lite 1,1,1 MODERATE 1 SNV 2 1,1,1 PASS ACG . . 62525650 AP000944.1 . GRCh38 chr11 65367920 65367920 + Splice_Region SNP T T G novel 7316-2757 BS_P2QCH2SY T T n.379-7T>G ENST00000533886 61 50 8 34 34 0 AP000944.1,splice_region_variant,,ENST00000533886,; G ENSG00000255478 ENST00000533886 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 AP000944.1 Clone_based_ensembl_gene antisense YES 1/2 LOW 1 SNV 4 PASS TTG . . 65367920 KMT2A . GRCh38 chr11 118436691 118436691 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.179T>G p.Val60Gly p.V60G ENST00000534358 1/36 49 33 11 27 23 1 KMT2A,missense_variant,p.Val60Gly,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Val60Gly,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Val60Gly,ENST00000531904,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000529852,;KMT2A,upstream_gene_variant,,ENST00000532204,;KMT2A,upstream_gene_variant,,ENST00000533790,;AP001267.2,upstream_gene_variant,,ENST00000532619,;,regulatory_region_variant,,ENSR00000045630,; G ENSG00000118058 ENST00000534358 Transcript missense_variant 202/16602 179/11919 60/3972 V/G gTg/gGg 1 1 KMT2A HGNC HGNC:7132 protein_coding YES CCDS55791.1 ENSP00000436786 Q03164 UPI0001E5E732 NM_001197104.1 tolerated_low_confidence(0.53) benign(0) 1/36 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTG . . 118436691 UBASH3B . GRCh38 chr11 122656214 122656214 + Splice_Region SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.161+4A>C ENST00000284273 54 40 7 47 45 1 UBASH3B,splice_region_variant,,ENST00000284273,NM_032873.4;UBASH3B,splice_region_variant,,ENST00000525711,;,regulatory_region_variant,,ENSR00000046214,; C ENSG00000154127 ENST00000284273 Transcript splice_region_variant,intron_variant 1 1 UBASH3B HGNC HGNC:29884 protein_coding YES CCDS31694.1 ENSP00000284273 Q8TF42 UPI0000047471 NM_032873.4 1/13 LOW 1 SNV 1 PASS AAG . . 122656214 TROAP . GRCh38 chr12 49330629 49330629 + Missense_Mutation SNP T T G 7316-2757 BS_P2QCH2SY T T c.1784T>G p.Ile595Ser p.I595S ENST00000257909 13/15 63 50 10 48 43 1 TROAP,missense_variant,p.Ile595Ser,ENST00000551245,;TROAP,missense_variant,p.Ile595Ser,ENST00000257909,NM_005480.3;TROAP,intron_variant,,ENST00000547923,;C1QL4,downstream_gene_variant,,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000548817,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000551192,; G ENSG00000135451 ENST00000257909 Transcript missense_variant 1860/2527 1784/2337 595/778 I/S aTt/aGt COSM6302225 1 1 TROAP HGNC HGNC:12327 protein_coding YES CCDS8784.1 ENSP00000257909 Q12815 UPI000007108A NM_005480.3 tolerated_low_confidence(0.99) benign(0) 13/15 hmmpanther:PTHR15289 1 MODERATE 1 SNV 1 1 PASS ATT . . 49330629 MYO1H . GRCh38 chr12 109439712 109439712 + Nonsense_Mutation SNP C C A novel 7316-2757 BS_P2QCH2SY C C c.2328C>A p.Tyr776Ter p.Y776* ENST00000431443 23/31 83 53 29 55 55 0 MYO1H,stop_gained,p.Tyr792Ter,ENST00000310903,;MYO1H,stop_gained,p.Tyr776Ter,ENST00000431443,NM_001101421.3;MYO1H,non_coding_transcript_exon_variant,,ENST00000542268,;MYO1H,upstream_gene_variant,,ENST00000457826,;MYO1H,upstream_gene_variant,,ENST00000543960,; A ENSG00000174527 ENST00000431443 Transcript stop_gained 2328/4258 2328/3069 776/1022 Y/* taC/taA 1 1 MYO1H HGNC HGNC:13879 protein_coding YES CCDS53826.1 ENSP00000444076 Q8N1T3 UPI0001AFF951 NM_001101421.3 23/31 hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF353 HIGH 1 SNV 5 1 PASS ACA . . 109439712 UBC . GRCh38 chr12 124913172 124913172 + Missense_Mutation SNP T T A novel 7316-2757 BS_P2QCH2SY T T c.600A>T p.Lys200Asn p.K200N ENST00000536769 1/1 69 52 9 33 32 1 UBC,missense_variant,p.Lys200Asn,ENST00000536769,;UBC,missense_variant,p.Lys200Asn,ENST00000339647,NM_021009.6;UBC,missense_variant,p.Lys124Asn,ENST00000541272,;UBC,intron_variant,,ENST00000538617,;UBC,intron_variant,,ENST00000546120,;UBC,downstream_gene_variant,,ENST00000535131,;UBC,downstream_gene_variant,,ENST00000535859,;UBC,downstream_gene_variant,,ENST00000540351,;UBC,downstream_gene_variant,,ENST00000540700,;UBC,downstream_gene_variant,,ENST00000541645,;UBC,downstream_gene_variant,,ENST00000542416,;UBC,downstream_gene_variant,,ENST00000546271,;MIR5188,upstream_gene_variant,,ENST00000583467,;UBC,downstream_gene_variant,,ENST00000536661,;UBC,downstream_gene_variant,,ENST00000544481,; A ENSG00000150991 ENST00000536769 Transcript missense_variant 2177/3745 600/2058 200/685 K/N aaA/aaT 1 -1 UBC HGNC HGNC:12468 protein_coding YES CCDS9260.1 ENSP00000441543 P0CG48 UPI000000D74D tolerated(0.08) possibly_damaging(0.707) 1/1 Gene3D:3.10.20.90,Pfam_domain:PF00240,PROSITE_patterns:PS00299,PROSITE_profiles:PS50053,hmmpanther:PTHR45095,hmmpanther:PTHR45095,hmmpanther:PTHR45095:SF2,hmmpanther:PTHR45095:SF2,SMART_domains:SM00213,Superfamily_domains:SSF54236,cd01803 MODERATE 1 SNV PASS GTT . . 124913172 CCDC168 . GRCh38 chr13 102737351 102737351 + Missense_Mutation SNP T T A novel 7316-2757 BS_P2QCH2SY T T c.13346A>T p.Lys4449Ile p.K4449I ENST00000322527 4/4 74 67 6 39 39 0 CCDC168,missense_variant,p.Lys4449Ile,ENST00000322527,NM_001146197.1; A ENSG00000175820 ENST00000322527 Transcript missense_variant 13484/21466 13346/21246 4449/7081 K/I aAa/aTa 1 -1 CCDC168 HGNC HGNC:26851 protein_coding YES CCDS73596.1 ENSP00000320232 Q8NDH2 UPI0001991308 NM_001146197.1 tolerated(0.81) benign(0) 4/4 Pfam_domain:PF15804,hmmpanther:PTHR35542 MODERATE 1 SNV 3 PASS TTT . . 102737351 FSCB . GRCh38 chr14 44505570 44505570 + Missense_Mutation SNP T T G rs1412534929 7316-2757 BS_P2QCH2SY T T c.1418A>C p.Glu473Ala p.E473A ENST00000340446 1/1 82 71 9 51 51 0 FSCB,missense_variant,p.Glu473Ala,ENST00000340446,NM_032135.3;AL356022.1,upstream_gene_variant,,ENST00000555433,;AL356022.1,upstream_gene_variant,,ENST00000556228,;AL356022.1,upstream_gene_variant,,ENST00000557465,; G ENSG00000189139 ENST00000340446 Transcript missense_variant 1710/2938 1418/2478 473/825 E/A gAa/gCa rs1412534929 1 -1 FSCB HGNC HGNC:20494 protein_coding YES CCDS9679.1 ENSP00000344579 Q5H9T9 UPI00001FD466 NM_032135.3 tolerated(0.09) possibly_damaging(0.88) 1/1 mobidb-lite,hmmpanther:PTHR36135 MODERATE SNV PASS TTC . . 44505570 NIPA1 . GRCh38 chr15 22786657 22786657 + Translation_Start_Site SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.1A>C p.Met1? p.M1? ENST00000337435 1/5 44 28 11 21 21 0 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; C ENSG00000170113 ENST00000337435 Transcript start_lost 26/6567 1/990 1/329 M/L Atg/Ctg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS AAT . . 22786657 GOLGA6L7 . GRCh38 chr15 28847134 28847134 + Missense_Mutation SNP T T G rs746304899 7316-2757 BS_P2QCH2SY T T c.110A>C p.Lys37Thr p.K37T ENST00000567390 2/9 69 56 10 47 47 0 GOLGA6L7,missense_variant,p.Lys37Thr,ENST00000567390,;PDCD6IPP2,intron_variant,,ENST00000564604,;PDCD6IPP2,intron_variant,,ENST00000566178,;GOLGA6L7,non_coding_transcript_exon_variant,,ENST00000569815,; G ENSG00000261649 ENST00000567390 Transcript missense_variant 236/2397 110/1869 37/622 K/T aAa/aCa rs746304899 1 -1 GOLGA6L7 HGNC HGNC:37442 protein_coding YES ENSP00000490318 A0A1B0GV03 UPI0007E52AB8 deleterious(0) possibly_damaging(0.899) 2/9 hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,mobidb-lite MODERATE 1 SNV 5 PASS TTT . . 0.0004967 0.01102 3.239e-05 28847134 SPTBN5 . GRCh38 chr15 41882382 41882382 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.2134A>C p.Thr712Pro p.T712P ENST00000320955 11/68 60 47 8 54 51 2 SPTBN5,missense_variant,p.Thr712Pro,ENST00000320955,NM_016642.3;,regulatory_region_variant,,ENSR00000075690,; G ENSG00000137877 ENST00000320955 Transcript missense_variant 2362/11725 2134/11025 712/3674 T/P Acg/Ccg 1 -1 SPTBN5 HGNC HGNC:15680 protein_coding YES CCDS61599.1 ENSP00000317790 Q9NRC6 UPI0000E59BE4 NM_016642.3 tolerated(0.14) possibly_damaging(0.894) 11/68 cd00176,hmmpanther:PTHR44979,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966 MODERATE 1 SNV 1 PASS GTT . . 41882382 TAOK2 . GRCh38 chr16 29983210 29983212 + In_Frame_Del DEL GAG GAG - rs368747234 7316-2757 BS_P2QCH2SY GAG GAG c.1155_1157del p.Glu392del p.E392del ENST00000308893 12/16 61 50 5 32 31 0 TAOK2,inframe_deletion,p.Glu392del,ENST00000308893,NM_016151.3;TAOK2,inframe_deletion,p.Glu219del,ENST00000416441,;TAOK2,inframe_deletion,p.Glu392del,ENST00000279394,NM_004783.3;TAOK2,inframe_deletion,p.Glu392del,ENST00000543033,NM_001252043.1;TAOK2,upstream_gene_variant,,ENST00000566552,; - ENSG00000149930 ENST00000308893 Transcript inframe_deletion 2181-2183/5169 1138-1140/3708 380/1235 E/- GAG/- rs368747234,TMP_ESP_16_29994531_29994542,COSM5850692,COSM5850691,COSM5850690 1 1 TAOK2 HGNC HGNC:16835 protein_coding YES CCDS10663.1 ENSP00000310094 Q9UL54 UPI000013EDDA NM_016151.3 12/16 Gene3D:1.10.510.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF188,mobidb-lite,Low_complexity_(Seg):seg 0.01032 0.01405 0,0,1,1,1 MODERATE 1 deletion 1 17 0,0,1,1,1 PASS AAGAGG . . 0.0006098 0.001401 6.124e-05 0.0001047 0.0002378 0.003579 0.0003385 0.0003772 0.0001662 29983209 IRX5 . GRCh38 chr16 54933375 54933375 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.954T>G p.His318Gln p.H318Q ENST00000394636 3/3 66 53 10 39 37 1 IRX5,missense_variant,p.His318Gln,ENST00000394636,NM_005853.5;IRX5,missense_variant,p.His317Gln,ENST00000320990,NM_001252197.1;IRX5,intron_variant,,ENST00000560154,;IRX5,intron_variant,,ENST00000620085,;CRNDE,upstream_gene_variant,,ENST00000501177,NM_001308963.1;CRNDE,upstream_gene_variant,,ENST00000502066,;CRNDE,upstream_gene_variant,,ENST00000557792,;AC106738.2,downstream_gene_variant,,ENST00000558156,;CRNDE,upstream_gene_variant,,ENST00000558952,;CRNDE,upstream_gene_variant,,ENST00000559432,;CRNDE,upstream_gene_variant,,ENST00000559598,;AC106738.2,downstream_gene_variant,,ENST00000559802,;CRNDE,upstream_gene_variant,,ENST00000560208,;AC106738.1,upstream_gene_variant,,ENST00000560487,;CRNDE,upstream_gene_variant,,ENST00000560912,;IRX5,non_coding_transcript_exon_variant,,ENST00000558597,; G ENSG00000176842 ENST00000394636 Transcript missense_variant 1291/2401 954/1452 318/483 H/Q caT/caG 1 1 IRX5 HGNC HGNC:14361 protein_coding YES CCDS10751.1 ENSP00000378132 P78411 UPI00001FF1CD NM_005853.5 tolerated(0.59) benign(0.425) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11211:SF17,hmmpanther:PTHR11211 MODERATE 1 SNV 3 1 PASS ATT . . 54933375 DNAAF1 . GRCh38 chr16 84170213 84170213 + Missense_Mutation SNP A A C 7316-2757 BS_P2QCH2SY A A c.1385A>C p.Gln462Pro p.Q462P ENST00000378553 8/12 57 43 11 46 44 0 DNAAF1,missense_variant,p.Gln462Pro,ENST00000378553,NM_178452.5;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,NM_001318756.1;DNAAF1,downstream_gene_variant,,ENST00000567666,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;DNAAF1,intron_variant,,ENST00000563093,; C ENSG00000154099 ENST00000378553 Transcript missense_variant 1509/2379 1385/2178 462/725 Q/P cAa/cCa COSM6233804,COSM2694226 1 1 DNAAF1 HGNC HGNC:30539 protein_coding YES CCDS10943.2 ENSP00000367815 Q8NEP3 A0A140VJN4 UPI000059D3C9 NM_178452.5 tolerated(0.11) benign(0.005) 8/12 mobidb-lite 1,1 MODERATE 1 SNV 1 1,1 1 PASS CAA . . 84170213 VPS9D1 . GRCh38 chr16 89711933 89711933 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.696A>C p.Glu232Asp p.E232D ENST00000389386 8/15 62 51 11 59 54 3 VPS9D1,missense_variant,p.Glu162Asp,ENST00000561976,;VPS9D1,missense_variant,p.Glu232Asp,ENST00000389386,NM_004913.2;VPS9D1,upstream_gene_variant,,ENST00000565023,;VPS9D1-AS1,non_coding_transcript_exon_variant,,ENST00000562866,;VPS9D1-AS1,upstream_gene_variant,,ENST00000562298,;VPS9D1,upstream_gene_variant,,ENST00000565452,;VPS9D1,3_prime_UTR_variant,,ENST00000563798,;VPS9D1,non_coding_transcript_exon_variant,,ENST00000568691,;VPS9D1,non_coding_transcript_exon_variant,,ENST00000567379,;,regulatory_region_variant,,ENSR00000089772,; G ENSG00000075399 ENST00000389386 Transcript missense_variant 821/2748 696/1896 232/631 E/D gaA/gaC 1 -1 VPS9D1 HGNC HGNC:13526 protein_coding YES CCDS42220.1 ENSP00000374037 Q9Y2B5 UPI00001FF749 NM_004913.2 deleterious(0.04) possibly_damaging(0.76) 8/15 hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF98 MODERATE 1 SNV 1 PASS GTT . . 89711933 CASC3 . GRCh38 chr17 40140599 40140599 + Missense_Mutation SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.51A>C p.Glu17Asp p.E17D ENST00000264645 1/14 45 35 8 44 42 2 CASC3,missense_variant,p.Glu17Asp,ENST00000264645,NM_007359.4;MSL1,downstream_gene_variant,,ENST00000398532,;CASC3,upstream_gene_variant,,ENST00000584997,;CASC3,non_coding_transcript_exon_variant,,ENST00000418132,;CASC3,non_coding_transcript_exon_variant,,ENST00000581849,;CASC3,non_coding_transcript_exon_variant,,ENST00000583649,;MSL1,downstream_gene_variant,,ENST00000339569,;MSL1,downstream_gene_variant,,ENST00000580086,;,regulatory_region_variant,,ENSR00000094037,; C ENSG00000108349 ENST00000264645 Transcript missense_variant 277/4116 51/2112 17/703 E/D gaA/gaC 1 1 CASC3 HGNC HGNC:17040 protein_coding YES CCDS11362.1 ENSP00000264645 O15234 UPI000000DAAA NM_007359.4 tolerated_low_confidence(0.73) benign(0.012) 1/14 PDB-ENSP_mappings:5xjc.x,hmmpanther:PTHR13434,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAT . . 40140599 MAP2K2 . GRCh38 chr19 4123803 4123803 + Missense_Mutation SNP T T G rs1161407396 7316-2757 BS_P2QCH2SY T T c.73A>C p.Thr25Pro p.T25P ENST00000262948 1/11 64 48 10 44 43 0 MAP2K2,missense_variant,p.Thr25Pro,ENST00000262948,NM_030662.3;MAP2K2,5_prime_UTR_variant,,ENST00000394867,;RF00017,upstream_gene_variant,,ENST00000619020,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000599345,;,regulatory_region_variant,,ENSR00000106161,; G ENSG00000126934 ENST00000262948 Transcript missense_variant 327/1734 73/1203 25/400 T/P Acc/Ccc rs1161407396 1 -1 MAP2K2 HGNC HGNC:6842 protein_coding YES CCDS12120.1 ENSP00000262948 P36507 UPI000012F489 NM_030662.3 tolerated(0.22) benign(0) 1/11 hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF314 MODERATE 1 SNV 1 1 PASS GTA . . 5.589e-06 1.245e-05 4123803 ZNF491 . GRCh38 chr19 11807164 11807164 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.1211T>G p.Ile404Ser p.I404S ENST00000323169 3/3 75 64 6 37 37 0 ZNF491,missense_variant,p.Ile404Ser,ENST00000323169,NM_152356.3;ZNF491,downstream_gene_variant,,ENST00000450087,;ZNF491,intron_variant,,ENST00000492230,; G ENSG00000177599 ENST00000323169 Transcript missense_variant 1542/2471 1211/1314 404/437 I/S aTt/aGt 1 1 ZNF491 HGNC HGNC:23706 protein_coding YES CCDS12267.1 ENSP00000313443 Q8N8L2 UPI000006D12C NM_152356.3 tolerated(0.12) benign(0.029) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF674,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS ATT . . 11807164 ZNF700 . GRCh38 chr19 11949119 11949119 + Missense_Mutation SNP G G T rs1403056557 7316-2757 BS_P2QCH2SY G G c.1104G>T p.Lys368Asn p.K368N ENST00000622593 4/4 67 58 5 49 47 0 ZNF700,missense_variant,p.Lys347Asn,ENST00000482090,;ZNF700,missense_variant,p.Lys368Asn,ENST00000622593,NM_001271848.1;ZNF700,missense_variant,p.Lys365Asn,ENST00000254321,NM_144566.2;AC008770.2,intron_variant,,ENST00000590798,;AC008770.2,intron_variant,,ENST00000591944,;AC008770.3,intron_variant,,ENST00000586394,;AC008770.2,intron_variant,,ENST00000591441,;AC008770.2,upstream_gene_variant,,ENST00000586354,; T ENSG00000196757 ENST00000622593 Transcript missense_variant 1247/2901 1104/2238 368/745 K/N aaG/aaT rs1403056557 1 1 ZNF700 HGNC HGNC:25292 protein_coding YES CCDS74289.1 ENSP00000479449 A0A087WVH9 UPI0002A097BD NM_001271848.1 tolerated(0.06) possibly_damaging(0.615) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.40.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE SNV 4 PASS AGA . . 1.637e-05 3.598e-05 11949119 ZNF878 . GRCh38 chr19 12044301 12044301 + Missense_Mutation SNP A A T rs1432172415 7316-2757 BS_P2QCH2SY A A c.1100T>A p.Phe367Tyr p.F367Y ENST00000547628 4/4 79 66 9 46 46 0 ZNF878,missense_variant,p.Phe367Tyr,ENST00000547628,NM_001080404.2;ZNF433-AS1,intron_variant,,ENST00000476474,;ZNF433-AS1,intron_variant,,ENST00000591838,;ZNF433-AS1,intron_variant,,ENST00000591898,;AC008770.1,intron_variant,,ENST00000547473,; T ENSG00000257446 ENST00000547628 Transcript missense_variant 1238/1734 1100/1596 367/531 F/Y tTt/tAt rs1432172415 1 -1 ZNF878 HGNC HGNC:37246 protein_coding YES CCDS45984.2 ENSP00000447931 C9JN71 UPI00001D8268 NM_001080404.2 tolerated(1) benign(0) 4/4 Gene3D:2.20.28.10,Pfam_domain:PF13894,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF45,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS AAA . . 12044301 JUND . GRCh38 chr19 18281118 18281118 + Missense_Mutation SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.367T>G p.Phe123Val p.F123V ENST00000252818 1/1 42 30 11 30 27 0 JUND,missense_variant,p.Phe123Val,ENST00000252818,NM_005354.5,NM_001286968.1;JUND,upstream_gene_variant,,ENST00000600972,;MIR3188,upstream_gene_variant,,ENST00000583494,;,regulatory_region_variant,,ENSR00000108040,;RPL39P38,downstream_gene_variant,,ENST00000467018,; C ENSG00000130522 ENST00000252818 Transcript missense_variant 505/1863 367/1044 123/347 F/V Ttc/Gtc 1 -1 JUND HGNC HGNC:6206 protein_coding YES CCDS32959.1 ENSP00000252818 P17535 UPI00001AE750 NM_005354.5,NM_001286968.1 deleterious(0) benign(0.35) 1/1 Pfam_domain:PF03957,hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF7 MODERATE 1 SNV PASS AAC . . 18281118 ZNF90 . GRCh38 chr19 20118900 20118900 + Missense_Mutation SNP G G T novel 7316-2757 BS_P2QCH2SY G G c.1346G>T p.Gly449Val p.G449V ENST00000418063 4/4 55 43 6 56 52 1 ZNF90,missense_variant,p.Gly449Val,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; T ENSG00000213988 ENST00000418063 Transcript missense_variant 1458/2310 1346/1806 449/601 G/V gGa/gTa 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 deleterious(0.02) probably_damaging(0.998) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GGA . . 20118900 ZNF493 . GRCh38 chr19 21424893 21424893 + Missense_Mutation SNP C C A rs201920955 7316-2757 BS_P2QCH2SY C C c.2234C>A p.Ala745Glu p.A745E ENST00000392288 4/4 60 47 9 31 31 0 ZNF493,missense_variant,p.Ala745Glu,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.Ala617Glu,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;AC010615.4,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,; A ENSG00000196268 ENST00000392288 Transcript missense_variant 2343/5023 2234/2325 745/774 A/E gCa/gAa rs201920955,COSM1680840,COSM1680839 1 1 ZNF493 HGNC HGNC:23708 protein_coding YES CCDS42536.1 ENSP00000376110 Q6ZR52 UPI000022ABBF NM_001076678.2 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,PIRSF_domain:PIRSF013212,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GCA . . 21424893 ZNF257 . GRCh38 chr19 22089223 22089223 + Missense_Mutation SNP A A T 7316-2757 BS_P2QCH2SY A A c.1473A>T p.Glu491Asp p.E491D ENST00000594947 4/4 60 47 8 58 55 1 ZNF257,missense_variant,p.Glu491Asp,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; T ENSG00000197134 ENST00000594947 Transcript missense_variant 1617/3874 1473/1692 491/563 E/D gaA/gaT COSM4076330 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 deleterious(0.03) benign(0.025) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS AAT . . 22089223 ZNF99 . GRCh38 chr19 22758647 22758647 + Missense_Mutation SNP G G C rs1352846094 7316-2757 BS_P2QCH2SY G G c.1262C>G p.Ala421Gly p.A421G ENST00000596209 4/4 55 42 6 32 31 0 ZNF99,missense_variant,p.Ala421Gly,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Ala330Gly,ENST00000397104,; C ENSG00000213973 ENST00000596209 Transcript missense_variant 1353/7817 1262/2595 421/864 A/G gCa/gGa rs1352846094,COSM6277919 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 tolerated(1) benign(0.001) 4/4 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 5 0,1 PASS TGC . . 4.09e-06 9.03e-06 22758647 SRRM5 . GRCh38 chr19 43613761 43613761 + Missense_Mutation SNP A A T novel 7316-2757 BS_P2QCH2SY A A c.1640A>T p.Gln547Leu p.Q547L ENST00000607544 3/3 62 41 7 26 25 0 SRRM5,missense_variant,p.Gln547Leu,ENST00000607544,;SRRM5,missense_variant,p.Gln547Leu,ENST00000417606,NM_001145641.1;ZNF428,intron_variant,,ENST00000300811,NM_182498.3;ZNF428,intron_variant,,ENST00000598676,;ZNF428,downstream_gene_variant,,ENST00000595304,; T ENSG00000226763 ENST00000607544 Transcript missense_variant 1962/2698 1640/2148 547/715 Q/L cAa/cTa 1 1 SRRM5 HGNC HGNC:37248 protein_coding YES CCDS46095.1 ENSP00000476253 B3KS81 UPI000059D73E tolerated(0.12) benign(0.086) 3/3 hmmpanther:PTHR39414,hmmpanther:PTHR39414,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 2 PASS CAA . . 43613761 BCL3 . GRCh38 chr19 44749011 44749011 + Missense_Mutation SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.221A>C p.His74Pro p.H74P ENST00000164227 1/9 44 33 7 32 32 0 BCL3,missense_variant,p.His74Pro,ENST00000164227,NM_005178.4;BCL3,upstream_gene_variant,,ENST00000444487,;BCL3,downstream_gene_variant,,ENST00000487394,;BCL3,intron_variant,,ENST00000403534,;,regulatory_region_variant,,ENSR00000288650,; C ENSG00000069399 ENST00000164227 Transcript missense_variant 465/2038 221/1365 74/454 H/P cAc/cCc 1 1 BCL3 HGNC HGNC:998 protein_coding YES CCDS12642.2 ENSP00000164227 P20749 UPI0000D4AF29 NM_005178.4 deleterious_low_confidence(0.01) benign(0.272) 1/9 hmmpanther:PTHR24118:SF51,hmmpanther:PTHR24118 MODERATE 1 SNV 1 1 PASS CAC . . 44749011 SCAF1 . GRCh38 chr19 49653661 49653661 + Missense_Mutation SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.3272A>C p.Asn1091Thr p.N1091T ENST00000360565 7/11 79 70 7 40 40 0 SCAF1,missense_variant,p.Asn1091Thr,ENST00000360565,NM_021228.2;SCAF1,downstream_gene_variant,,ENST00000598359,; C ENSG00000126461 ENST00000360565 Transcript missense_variant 3396/4306 3272/3939 1091/1312 N/T aAt/aCt 1 1 SCAF1 HGNC HGNC:30403 protein_coding YES CCDS33074.1 ENSP00000353769 Q9H7N4 UPI0000071891 NM_021228.2 deleterious_low_confidence(0) benign(0.133) 7/11 Low_complexity_(Seg):seg,hmmpanther:PTHR12618,hmmpanther:PTHR12618:SF24 MODERATE 1 SNV 2 PASS AAT . . 49653661 VSIG10L . GRCh38 chr19 51340065 51340065 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.1424A>C p.Asn475Thr p.N475T ENST00000335624 4/10 62 50 10 62 58 3 VSIG10L,missense_variant,p.Asn475Thr,ENST00000335624,NM_001163922.1;AC008750.3,upstream_gene_variant,,ENST00000594311,;AC008750.3,upstream_gene_variant,,ENST00000601148,;VSIG10L,upstream_gene_variant,,ENST00000600663,;,regulatory_region_variant,,ENSR00000111162,; G ENSG00000186806 ENST00000335624 Transcript missense_variant 1424/3397 1424/2604 475/867 N/T aAc/aCc 1 -1 VSIG10L HGNC HGNC:27111 protein_coding YES CCDS54300.1 ENSP00000335623 Q86VR7 UPI00001D8188 NM_001163922.1 deleterious(0.02) benign(0.324) 4/10 Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR45259,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd00096 MODERATE 1 SNV 5 PASS GTT . . 51340065 ZNF888 . GRCh38 chr19 52906253 52906253 + Missense_Mutation SNP A A T novel 7316-2757 BS_P2QCH2SY A A c.2069T>A p.Phe690Tyr p.F690Y ENST00000638862 5/5 69 62 6 53 52 0 ZNF888,missense_variant,p.Phe690Tyr,ENST00000638862,NM_001310127.1;AC010487.3,intron_variant,,ENST00000634278,;ZNF888,downstream_gene_variant,,ENST00000596623,; T ENSG00000213793 ENST00000638862 Transcript missense_variant 2359/4195 2069/2157 690/718 F/Y tTc/tAc 1 -1 ZNF888 HGNC HGNC:38695 protein_coding YES ENSP00000491567 P0CJ79 UPI0002742DD9 NM_001310127.1 tolerated(1) benign(0) 5/5 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE SNV 5 PASS GAA . . 52906253 ZNF813 . GRCh38 chr19 53491296 53491296 + Missense_Mutation SNP T T A rs879249441 7316-2757 BS_P2QCH2SY T T c.1064T>A p.Phe355Tyr p.F355Y ENST00000396403 4/4 78 65 11 51 50 1 ZNF813,missense_variant,p.Phe355Tyr,ENST00000396403,NM_001004301.3;ZNF813,downstream_gene_variant,,ENST00000468450,;ZNF813,downstream_gene_variant,,ENST00000490956,;AC022137.1,upstream_gene_variant,,ENST00000483735,; A ENSG00000198346 ENST00000396403 Transcript missense_variant 1192/6151 1064/1854 355/617 F/Y tTc/tAc rs879249441,COSM4745067 1 1 ZNF813 HGNC HGNC:33257 protein_coding YES CCDS46172.1 ENSP00000379684 Q6ZN06 UPI000040C511 NM_001004301.3 tolerated(1) benign(0) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 3 0,1 PASS TTC . . 53491296 ZNF835 . GRCh38 chr19 56664280 56664280 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.919A>C p.Thr307Pro p.T307P ENST00000537055 2/2 76 56 9 62 58 2 ZNF835,missense_variant,p.Thr307Pro,ENST00000537055,NM_001005850.2;ZNF835,downstream_gene_variant,,ENST00000601659,; G ENSG00000127903 ENST00000537055 Transcript missense_variant 1151/3450 919/1614 307/537 T/P Acg/Ccg 1 -1 ZNF835 HGNC HGNC:34332 protein_coding YES CCDS56105.1 ENSP00000444747 Q9Y2P0 UPI0000EE7244 NM_001005850.2 tolerated(0.19) benign(0.266) 2/2 PROSITE_profiles:PS50157,hmmpanther:PTHR44153,hmmpanther:PTHR44153:SF4,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GTG . . 56664280 ZNF460 . GRCh38 chr19 57291580 57291580 + Missense_Mutation SNP T T C rs1398857331 7316-2757 BS_P2QCH2SY T T c.1039T>C p.Cys347Arg p.C347R ENST00000360338 3/3 83 67 10 55 53 1 ZNF460,missense_variant,p.Cys347Arg,ENST00000360338,NM_006635.3;ZNF460,missense_variant,p.Cys306Arg,ENST00000537645,;ZNF460,downstream_gene_variant,,ENST00000599602,;AC005261.5,downstream_gene_variant,,ENST00000623072,; C ENSG00000197714 ENST00000360338 Transcript missense_variant 1361/3350 1039/1689 347/562 C/R Tgc/Cgc rs1398857331 1 1 ZNF460 HGNC HGNC:21628 protein_coding YES CCDS12949.1 ENSP00000353491 Q14592 UPI0000202D11 NM_006635.3 tolerated(0.71) benign(0) 3/3 Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF15,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CTG . . 57291580 ZIK1 . GRCh38 chr19 57590787 57590787 + Missense_Mutation SNP A A G rs868405036 7316-2757 BS_P2QCH2SY A A c.976A>G p.Ser326Gly p.S326G ENST00000597850 4/4 74 65 5 48 48 0 ZIK1,missense_variant,p.Ser326Gly,ENST00000597850,NM_001010879.3;ZIK1,missense_variant,p.Ser313Gly,ENST00000536878,NM_001321145.1;ZIK1,missense_variant,p.Ser271Gly,ENST00000599456,NM_001321146.1;ZIK1,3_prime_UTR_variant,,ENST00000307468,;ZIK1,downstream_gene_variant,,ENST00000597219,;ZIK1,downstream_gene_variant,,ENST00000598689,;ZIK1,downstream_gene_variant,,ENST00000600053,;ZIK1,downstream_gene_variant,,ENST00000598726,; G ENSG00000171649 ENST00000597850 Transcript missense_variant 1191/4181 976/1464 326/487 S/G Agc/Ggc rs868405036,COSM4742827 1 1 ZIK1 HGNC HGNC:33104 protein_coding YES CCDS33135.1 ENSP00000472867 Q3SY52 UPI00001609B2 NM_001010879.3 tolerated(0.64) benign(0) 4/4 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF617,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS TAG . . 4.061e-06 8.954e-06 57590787 ZNF586 . GRCh38 chr19 57779301 57779301 + Missense_Mutation SNP A A C rs778736735 7316-2757 BS_P2QCH2SY A A c.714A>C p.Glu238Asp p.E238D ENST00000396154 3/3 59 49 9 41 38 0 ZNF586,missense_variant,p.Glu195Asp,ENST00000391702,NM_001204814.1;ZNF586,missense_variant,p.Glu238Asp,ENST00000396154,NM_017652.3;ZNF586,missense_variant,p.Asn196Thr,ENST00000396150,NM_001077426.2;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000598885,;ZNF586,intron_variant,,ENST00000599802,; C ENSG00000083828 ENST00000396154 Transcript missense_variant 887/2163 714/1209 238/402 E/D gaA/gaC rs778736735 1 1 ZNF586 HGNC HGNC:25949 protein_coding YES CCDS42640.1 ENSP00000379458 Q9NXT0 UPI0000202D48 NM_017652.3 deleterious(0.04) benign(0.144) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF708,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAT . . 4.061e-06 8.953e-06 57779301 ZNF586 . GRCh38 chr19 57779309 57779309 + Missense_Mutation SNP G G A rs1164778148 7316-2757 BS_P2QCH2SY G G c.722G>A p.Arg241Lys p.R241K ENST00000396154 3/3 55 44 7 40 38 0 ZNF586,missense_variant,p.Arg198Lys,ENST00000391702,NM_001204814.1;ZNF586,missense_variant,p.Arg241Lys,ENST00000396154,NM_017652.3;ZNF586,missense_variant,p.Asp199Asn,ENST00000396150,NM_001077426.2;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000598885,;ZNF586,intron_variant,,ENST00000599802,; A ENSG00000083828 ENST00000396154 Transcript missense_variant 895/2163 722/1209 241/402 R/K aGa/aAa rs1164778148 1 1 ZNF586 HGNC HGNC:25949 protein_coding YES CCDS42640.1 ENSP00000379458 Q9NXT0 UPI0000202D48 NM_017652.3 tolerated(1) benign(0) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF708,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGA . . 57779309 CD93 . GRCh38 chr20 23084322 23084322 + Missense_Mutation SNP G G A rs201836966 7316-2757 BS_P2QCH2SY G G c.1871C>T p.Ala624Val p.A624V ENST00000246006 1/2 67 30 32 55 55 0 CD93,missense_variant,p.Ala624Val,ENST00000246006,NM_012072.3;,regulatory_region_variant,,ENSR00000297762,; A ENSG00000125810 ENST00000246006 Transcript missense_variant 2019/6708 1871/1959 624/652 A/V gCg/gTg rs201836966,COSM183321 1 -1 CD93 HGNC HGNC:15855 protein_coding YES CCDS13149.1 ENSP00000246006 Q9NPY3 UPI00001273BC NM_012072.3 tolerated(0.06) possibly_damaging(0.77) 1/2 mobidb-lite,hmmpanther:PTHR44470:SF2,hmmpanther:PTHR44470 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 4.881e-05 0.0002084 0.000116 8.978e-06 6.497e-05 23084322 NPEPL1 . GRCh38 chr20 58692922 58692922 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.22T>G p.Phe8Val p.F8V ENST00000356091 1/12 43 33 7 11 11 0 NPEPL1,missense_variant,p.Phe8Val,ENST00000356091,NM_024663.3;NPEPL1,intron_variant,,ENST00000525817,NM_001204873.1;NPEPL1,intron_variant,,ENST00000525967,NM_001204872.1;STX16-NPEPL1,intron_variant,,ENST00000530122,;STX16-NPEPL1,downstream_gene_variant,,ENST00000413559,;NPEPL1,upstream_gene_variant,,ENST00000527587,;NPEPL1,upstream_gene_variant,,ENST00000529976,;NPEPL1,upstream_gene_variant,,ENST00000533788,;,regulatory_region_variant,,ENSR00000139430,; G ENSG00000215440 ENST00000356091 Transcript missense_variant 310/2378 22/1572 8/523 F/V Ttc/Gtc 1 1 NPEPL1 HGNC HGNC:16244 protein_coding YES CCDS46621.1 ENSP00000348395 Q8NDH3 UPI000036789E NM_024663.3 deleterious(0) benign(0.092) 1/12 hmmpanther:PTHR11963,hmmpanther:PTHR11963:SF4,Gene3D:3.40.50.10590 MODERATE 1 SNV 1 PASS GTT . . 58692922 MAPK8IP2 . GRCh38 chr22 50605644 50605644 + Missense_Mutation SNP T T G novel 7316-2757 BS_P2QCH2SY T T c.1924T>G p.Phe642Val p.F642V ENST00000329492 7/12 79 64 8 50 50 0 MAPK8IP2,missense_variant,p.Phe642Val,ENST00000329492,NM_012324.4;CHKB,upstream_gene_variant,,ENST00000463053,;MAPK8IP2,non_coding_transcript_exon_variant,,ENST00000008876,; G ENSG00000008735 ENST00000329492 Transcript missense_variant 2058/3381 1924/2475 642/824 F/V Ttc/Gtc 1 1 MAPK8IP2 HGNC HGNC:6883 protein_coding YES CCDS74886.1 ENSP00000330572 Q13387 UPI000012DAB7 NM_012324.4 deleterious(0.02) benign(0.136) 7/12 PROSITE_profiles:PS50002,cd11942,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF41,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50729 MODERATE 1 SNV 1 PASS GTT . . 50605644 CXorf67 . GRCh38 chrX 51407578 51407578 + Missense_Mutation SNP G C C novel 7316-2757 BS_P2QCH2SY G G c.562G>C p.Gly188Arg p.G188R ENST00000342995 1/1 37 5 32 19 18 0 CXorf67,missense_variant,p.Gly188Arg,ENST00000342995,NM_203407.2;AL158055.1,intron_variant,,ENST00000455931,; C ENSG00000187690 ENST00000342995 Transcript missense_variant 664/1929 562/1512 188/503 G/R Ggg/Cgg 1 1 CXorf67 HGNC HGNC:33738 protein_coding YES CCDS78485.1 ENSP00000342680 Q86X51 UPI000000DB6D NM_203407.2 tolerated(0.93) benign(0) 1/1 hmmpanther:PTHR22467,mobidb-lite MODERATE 1 SNV PASS CGG . . 51407578 RBMXL3 . GRCh38 chrX 115190054 115190054 + Missense_Mutation SNP A A C novel 7316-2757 BS_P2QCH2SY A A c.613A>C p.Lys205Gln p.K205Q ENST00000424776 1/1 33 25 8 29 27 1 RBMXL3,missense_variant,p.Lys205Gln,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343011,; C ENSG00000175718 ENST00000424776 Transcript missense_variant 628/3442 613/3204 205/1067 K/Q Aag/Cag 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 deleterious_low_confidence(0.01) benign(0.092) 1/1 hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 MODERATE SNV PASS CAA . . 115190054 FAM3D . GRCh38 chr3 58645540 58645540 + Missense_Mutation SNP C C A 7316-3319 BS_83YQS965 C C c.232G>T p.Val78Leu p.V78L ENST00000358781 5/10 63 29 33 43 43 0 FAM3D,missense_variant,p.Val78Leu,ENST00000358781,NM_138805.2;FAM3D,missense_variant,p.Val77Leu,ENST00000483787,;FAM3D,missense_variant,p.Val41Leu,ENST00000489857,;FAM3D,missense_variant,p.Val78Leu,ENST00000498347,;FAM3D,3_prime_UTR_variant,,ENST00000482623,; A ENSG00000198643 ENST00000358781 Transcript missense_variant 543/1319 232/675 78/224 V/L Gtg/Ttg COSM1251869 1 -1 FAM3D HGNC HGNC:18665 protein_coding YES CCDS2893.1 ENSP00000351632 Q96BQ1 A0A0A8K9B4 UPI00000015C6 NM_138805.2 deleterious(0.01) benign(0.213) 5/10 hmmpanther:PTHR14592,hmmpanther:PTHR14592:SF9,cd13940 1 MODERATE 1 SNV 1 1 PASS ACG . . 58645540 ARSB . GRCh38 chr5 78985245 78985245 + Missense_Mutation SNP C C A novel 7316-3319 BS_83YQS965 C C c.4G>T p.Gly2Cys p.G2C ENST00000264914 1/8 63 39 24 38 37 0 ARSB,missense_variant,p.Gly2Cys,ENST00000264914,NM_000046.3;ARSB,missense_variant,p.Gly2Cys,ENST00000565165,;ARSB,missense_variant,p.Gly2Cys,ENST00000396151,NM_198709.2;ARSB,missense_variant,p.Gly2Cys,ENST00000521117,;,regulatory_region_variant,,ENSR00000183042,; A ENSG00000113273 ENST00000264914 Transcript missense_variant 543/5329 4/1602 2/533 G/C Ggt/Tgt 1 -1 ARSB HGNC HGNC:714 protein_coding YES CCDS4043.1 ENSP00000264914 P15848 A0A024RAJ9 UPI00001260A3 NM_000046.3 deleterious_low_confidence(0.02) benign(0.001) 1/8 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS CCC . . 78985245 AC090502.3 . GRCh38 chr12 74248845 74248845 + Splice_Region SNP A A T novel 7316-3319 BS_83YQS965 A A n.321T>A ENST00000552046 4/4 46 29 15 46 46 0 AC090502.3,splice_region_variant,,ENST00000552046,;AC090502.1,intron_variant,,ENST00000515416,;AC090502.1,intron_variant,,ENST00000549905,; T ENSG00000257183 ENST00000552046 Transcript splice_region_variant,non_coding_transcript_exon_variant 321/529 1 -1 AC090502.3 Clone_based_ensembl_gene lincRNA YES 4/4 LOW SNV 3 PASS TAC . . 74248845 RORA . GRCh38 chr15 60511568 60511568 + Missense_Mutation SNP C C T novel 7316-3319 BS_83YQS965 C C c.577G>A p.Val193Ile p.V193I ENST00000261523 6/12 59 39 18 40 39 0 RORA,missense_variant,p.Val160Ile,ENST00000335670,NM_134261.2;RORA,missense_variant,p.Val193Ile,ENST00000261523,NM_134260.2;RORA,missense_variant,p.Val185Ile,ENST00000309157,NM_002943.3;RORA,missense_variant,p.Val105Ile,ENST00000449337,NM_134262.2;RORA,downstream_gene_variant,,ENST00000559343,;RORA-AS1,intron_variant,,ENST00000501579,;RORA-AS1,intron_variant,,ENST00000558140,;RORA-AS1,intron_variant,,ENST00000558235,;RORA-AS1,intron_variant,,ENST00000559824,;RORA-AS1,intron_variant,,ENST00000559902,;RORA,non_coding_transcript_exon_variant,,ENST00000560004,;RORA,non_coding_transcript_exon_variant,,ENST00000559587,;RORA,3_prime_UTR_variant,,ENST00000551975,; T ENSG00000069667 ENST00000261523 Transcript missense_variant 666/1951 577/1671 193/556 V/I Gta/Ata 1 -1 RORA HGNC HGNC:10258 protein_coding YES CCDS10179.1 ENSP00000261523 P35398 UPI0000134548 NM_134260.2 deleterious(0) possibly_damaging(0.881) 6/12 Gene3D:1.10.565.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF311,cd06968,mobidb-lite MODERATE 1 SNV 1 PASS ACT . . 60511568 ATP2A1 . GRCh38 chr16 28902318 28902319 + Frame_Shift_Ins INS - - C rs751365374 7316-3319 BS_83YQS965 - - c.2464dup p.Arg822ProfsTer39 p.R822Pfs*39 ENST00000357084 17/22 45 11 28 42 38 0 ATP2A1,frameshift_variant,p.Arg822ProfsTer39,ENST00000395503,NM_004320.4;ATP2A1,frameshift_variant,p.Arg822ProfsTer39,ENST00000357084,NM_173201.3;ATP2A1,frameshift_variant,p.Arg697ProfsTer39,ENST00000536376,NM_001286075.1;RABEP2,downstream_gene_variant,,ENST00000357573,;RABEP2,downstream_gene_variant,,ENST00000358201,NM_024816.2;RABEP2,downstream_gene_variant,,ENST00000544477,;ATP2A1,upstream_gene_variant,,ENST00000564112,;ATP2A1,downstream_gene_variant,,ENST00000564732,; C ENSG00000196296 ENST00000357084 Transcript frameshift_variant 2723-2724/3532 2456-2457/3006 819/1001 R/RX cgc/cgCc rs751365374,TMP_ESP_16_28913640_28913640 1 1 ATP2A1 HGNC HGNC:811 protein_coding YES CCDS10643.1 ENSP00000349595 O14983 UPI000003B461 NM_173201.3 17/22 cd02083,Pfam_domain:PF00689,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01116,Superfamily_domains:SSF81665,hmmpanther:PTHR42861,hmmpanther:PTHR42861:SF18 0.0129 0.006665 HIGH insertion 2 8 1 PASS CGC . . 0.0001677 0.0004627 2.986e-05 0.0003079 5.805e-05 4.51e-05 0.0002534 28902318 ARHGAP23P1 . GRCh38 chr16 33919909 33919909 + Splice_Region SNP G G A rs200672630 7316-3319 BS_83YQS965 G G n.1382C>T ENST00000562773 10/15 36 24 11 29 28 0 ARHGAP23P1,splice_region_variant,,ENST00000562773,; A ENSG00000260781 ENST00000562773 Transcript splice_region_variant,non_coding_transcript_exon_variant 1382/1937 rs200672630 1 -1 ARHGAP23P1 HGNC HGNC:45039 transcribed_unprocessed_pseudogene YES 10/15 0.0004 0.0015 LOW 1 SNV PASS CGC . . 33919909 DNM2 . GRCh38 chr19 10797473 10797474 + Frame_Shift_Ins INS - - G rs1304183440 7316-3319 BS_83YQS965 - - c.1291dup p.Val431GlyfsTer52 p.V431Gfs*52 ENST00000389253 10/21 49 39 6 39 37 0 DNM2,frameshift_variant,p.Val431GlyfsTer52,ENST00000389253,NM_001005361.2;DNM2,frameshift_variant,p.Val431GlyfsTer52,ENST00000408974,NM_001005362.2;DNM2,frameshift_variant,p.Val183GlyfsTer52,ENST00000587830,;DNM2,intron_variant,,ENST00000355667,NM_001005360.2;DNM2,intron_variant,,ENST00000359692,NM_004945.3;DNM2,intron_variant,,ENST00000585892,NM_001190716.1;DNM2,downstream_gene_variant,,ENST00000587485,;DNM2,intron_variant,,ENST00000593220,;DNM2,upstream_gene_variant,,ENST00000587329,;DNM2,downstream_gene_variant,,ENST00000591701,; G ENSG00000079805 ENST00000389253 Transcript frameshift_variant 1402-1403/3581 1290-1291/2613 430-431/870 -/X -/G rs1304183440 1 1 DNM2 HGNC HGNC:2974 protein_coding YES CCDS45969.1 ENSP00000373905 P50570 UPI000049A626 NM_001005361.2 10/21 Pfam_domain:PF01031,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF23 HIGH 1 insertion 5 1 1 PASS TCG . . 0.0002157 6.692e-05 0.000869 0.0001028 0.0002409 7.259e-05 0.0007579 0.0002012 10797473 SUSD2 . GRCh38 chr22 24183081 24183081 + Missense_Mutation SNP G G A rs62231981 7316-3319 BS_83YQS965 G G c.101G>A p.Arg34His p.R34H ENST00000358321 2/15 50 41 8 46 42 0 SUSD2,missense_variant,p.Arg34His,ENST00000358321,NM_019601.3;CABIN1,downstream_gene_variant,,ENST00000263119,NM_012295.3;CABIN1,downstream_gene_variant,,ENST00000337989,;CABIN1,downstream_gene_variant,,ENST00000398319,NM_001199281.1;CABIN1,downstream_gene_variant,,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000617531,NM_001201429.1;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,; A ENSG00000099994 ENST00000358321 Transcript missense_variant 362/3404 101/2469 34/822 R/H cGc/cAc rs62231981,COSM1178084 1 1 SUSD2 HGNC HGNC:30667 protein_coding YES CCDS13824.1 ENSP00000351075 Q9UGT4 A0A140VJW3 UPI000006CC92 NM_019601.3 tolerated(0.08) benign(0.133) 2/15 PROSITE_profiles:PS50958,hmmpanther:PTHR13802:SF43,hmmpanther:PTHR13802,Pfam_domain:PF01033,Superfamily_domains:SSF90188 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.4722 0.3229 0.4827 0.4869 0.4767 0.4939 0.4844 0.4738 0.4554 24183081 FAAH2 . GRCh38 chrX 57488787 57488787 + Frame_Shift_Del DEL C C - novel 7316-3319 BS_83YQS965 C C c.1456del p.Gln486AsnfsTer6 p.Q486Nfs*6 ENST00000374900 11/11 63 29 28 47 47 0 FAAH2,frameshift_variant,p.Gln486AsnfsTer6,ENST00000374900,NM_174912.3;FAAH2,non_coding_transcript_exon_variant,,ENST00000491179,; - ENSG00000165591 ENST00000374900 Transcript frameshift_variant 1574/1983 1454/1599 485/532 T/X aCc/ac 1 1 FAAH2 HGNC HGNC:26440 protein_coding YES CCDS14375.1 ENSP00000364035 Q6GMR7 B2C6G4 UPI000004CC6F NM_174912.3 11/11 hmmpanther:PTHR43372,Pfam_domain:PF01425,PIRSF_domain:PIRSF001221,Gene3D:3.90.1300.10,Superfamily_domains:SSF75304 HIGH 1 deletion 1 2 PASS GACC . . 57488786 NAP1L2 . GRCh38 chrX 73213828 73213830 + In_Frame_Del DEL TCC TCC - rs369450592 7316-3319 BS_83YQS965 TCC TCC c.663_665del p.Glu221del p.E221del ENST00000373517 1/1 58 45 6 29 25 0 NAP1L2,inframe_deletion,p.Glu221del,ENST00000373517,NM_021963.3;,regulatory_region_variant,,ENSR00000247233,; - ENSG00000186462 ENST00000373517 Transcript inframe_deletion 1019-1021/2550 663-665/1383 221-222/460 ED/D gaGGAc/gac rs369450592,COSM1125153 1 -1 NAP1L2 HGNC HGNC:7638 protein_coding YES CCDS14423.1 ENSP00000362616 Q9ULW6 UPI00001303E8 NM_021963.3 1/1 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF36,Pfam_domain:PF00956,Superfamily_domains:SSF143113 0.0252 0.0359 0.0229 0.0092 0.0117 0.0432 0,1 MODERATE 1 deletion 0,1 PASS CGTCCT . . 0.01275 0.03101 0.01251 0.01257 0.01274 0.009125 0.01166 0.01045 0.008629 73213827 MAGEC1 . GRCh38 chrX 141906534 141906534 + Missense_Mutation SNP G G T rs7063168 7316-3319 BS_83YQS965 G G c.1130G>T p.Gly377Val p.G377V ENST00000285879 4/4 74 59 11 27 26 0 MAGEC1,missense_variant,p.Gly377Val,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; T ENSG00000155495 ENST00000285879 Transcript missense_variant 1416/4270 1130/3429 377/1142 G/V gGg/gTg rs7063168,COSM4600089 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(0.33) benign(0) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 0.0305 0.0728 0.0229 0.0105 0.0209 0.0084 0,1 MODERATE 1 SNV 1 0,1 PASS GGG . . 0.009643 0.08491 0.008775 0.003692 0.01256 0.0008155 0.003607 0.01125 0.004013 141906534 KLF18 . GRCh38 chr1 44139407 44139408 + In_Frame_Ins INS - - TAT rs201287482 7316-496 BS_83YQS965 - - c.2224_2225insATA p.Gln741_Met742insAsn p.Q741_M742insN ENST00000634670 1/2 74 51 13 40 38 0 KLF18,inframe_insertion,p.Gln741_Met742insAsn,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; TAT ENSG00000283039 ENST00000634670 Transcript inframe_insertion 2224-2225/3159 2224-2225/3159 742/1052 M/NM atg/aATAtg rs201287482 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 1/2 hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE insertion 5 PASS CAT . . 44139407 KLF18 . GRCh38 chr1 44139426 44139426 + Missense_Mutation SNP T T C rs144562521 7316-496 BS_83YQS965 T T c.2206A>G p.Thr736Ala p.T736A ENST00000634670 1/2 70 47 12 38 33 0 KLF18,missense_variant,p.Thr736Ala,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; C ENSG00000283039 ENST00000634670 Transcript missense_variant 2206/3159 2206/3159 736/1052 T/A Acc/Gcc rs144562521 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.52) unknown(0) 1/2 hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GTC . . 44139426 AL355388.1 . GRCh38 chr1 155991515 155991516 + Splice_Region DEL GT GT - rs796904230 7316-496 BS_83YQS965 GT GT n.121+22_121+23del ENST00000415726 77 62 7 39 38 0 ARHGEF2,intron_variant,,ENST00000423422,;ARHGEF2,upstream_gene_variant,,ENST00000462460,;ARHGEF2,upstream_gene_variant,,ENST00000495070,;AL355388.1,splice_region_variant,,ENST00000415726,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,upstream_gene_variant,,ENST00000609126,;,regulatory_region_variant,,ENSR00000014127,; - ENSG00000224276 ENST00000415726 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs796904230 1 1 AL355388.1 Clone_based_ensembl_gene antisense YES 1/1 LOW 1 deletion 2 17 PASS GAGTG . . 155991514 MST1 . GRCh38 chr3 49688595 49688595 + Splice_Region SNP T T C rs62262685 7316-496 BS_83YQS965 T T c.94+3A>G ENST00000449682 87 76 11 44 43 0 MST1,splice_region_variant,,ENST00000449682,NM_020998.3;APEH,downstream_gene_variant,,ENST00000296456,NM_001640.3;RNF123,upstream_gene_variant,,ENST00000327697,NM_022064.4;RNF123,upstream_gene_variant,,ENST00000432042,;MST1,upstream_gene_variant,,ENST00000448220,;RNF123,upstream_gene_variant,,ENST00000454491,;RNF123,upstream_gene_variant,,ENST00000629802,;MST1,splice_region_variant,,ENST00000494828,;MST1,intron_variant,,ENST00000491943,;MST1,splice_region_variant,,ENST00000484673,;MST1,splice_region_variant,,ENST00000490966,;MST1,splice_region_variant,,ENST00000492370,;MST1,non_coding_transcript_exon_variant,,ENST00000488350,;RNF123,upstream_gene_variant,,ENST00000443204,;RNF123,upstream_gene_variant,,ENST00000457726,;MST1,upstream_gene_variant,,ENST00000468847,;MST1,upstream_gene_variant,,ENST00000479115,;MST1,upstream_gene_variant,,ENST00000480268,;MST1,upstream_gene_variant,,ENST00000481055,;MST1,upstream_gene_variant,,ENST00000481930,;MST1,upstream_gene_variant,,ENST00000484144,;MST1,upstream_gene_variant,,ENST00000484269,;RNF123,upstream_gene_variant,,ENST00000486102,;RNF123,upstream_gene_variant,,ENST00000487805,;MST1,upstream_gene_variant,,ENST00000489007,;MST1,upstream_gene_variant,,ENST00000492329,;MST1,upstream_gene_variant,,ENST00000493836,;MST1,upstream_gene_variant,,ENST00000494809,;MST1,upstream_gene_variant,,ENST00000497359,;MST1,upstream_gene_variant,,ENST00000498021,;AC099668.1,upstream_gene_variant,,ENST00000563780,; C ENSG00000173531 ENST00000449682 Transcript splice_region_variant,intron_variant rs62262685 1 -1 MST1 HGNC HGNC:7380 protein_coding YES CCDS33757.2 ENSP00000414287 G3XAK1 UPI0000EE2A31 NM_020998.3 1/17 LOW 1 SNV 1 1 PASS TTA . . 0.3989 0.4337 0.4006 0.3224 0.4195 0.4555 0.3947 0.3691 0.3491 49688595 MST1 . GRCh38 chr3 49688637 49688637 + Missense_Mutation SNP G G A rs62262686 7316-496 BS_83YQS965 G G c.55C>T p.Pro19Ser p.P19S ENST00000449682 1/18 84 73 10 51 51 0 MST1,missense_variant,p.Pro19Ser,ENST00000449682,NM_020998.3;APEH,downstream_gene_variant,,ENST00000296456,NM_001640.3;RNF123,upstream_gene_variant,,ENST00000327697,NM_022064.4;RNF123,upstream_gene_variant,,ENST00000432042,;MST1,upstream_gene_variant,,ENST00000448220,;RNF123,upstream_gene_variant,,ENST00000454491,;RNF123,upstream_gene_variant,,ENST00000629802,;MST1,non_coding_transcript_exon_variant,,ENST00000494828,;MST1,intron_variant,,ENST00000491943,;MST1,non_coding_transcript_exon_variant,,ENST00000488350,;MST1,non_coding_transcript_exon_variant,,ENST00000492370,;MST1,non_coding_transcript_exon_variant,,ENST00000484673,;MST1,non_coding_transcript_exon_variant,,ENST00000490966,;RNF123,upstream_gene_variant,,ENST00000443204,;RNF123,upstream_gene_variant,,ENST00000457726,;MST1,upstream_gene_variant,,ENST00000468847,;MST1,upstream_gene_variant,,ENST00000479115,;MST1,upstream_gene_variant,,ENST00000480268,;MST1,upstream_gene_variant,,ENST00000481055,;MST1,upstream_gene_variant,,ENST00000481930,;MST1,upstream_gene_variant,,ENST00000484144,;MST1,upstream_gene_variant,,ENST00000484269,;RNF123,upstream_gene_variant,,ENST00000486102,;RNF123,upstream_gene_variant,,ENST00000487805,;MST1,upstream_gene_variant,,ENST00000489007,;MST1,upstream_gene_variant,,ENST00000492329,;MST1,upstream_gene_variant,,ENST00000493836,;MST1,upstream_gene_variant,,ENST00000494809,;MST1,upstream_gene_variant,,ENST00000497359,;MST1,upstream_gene_variant,,ENST00000498021,;AC099668.1,upstream_gene_variant,,ENST00000563780,; A ENSG00000173531 ENST00000449682 Transcript missense_variant 417/2621 55/2178 19/725 P/S Cca/Tca rs62262686,COSM3733861 1 -1 MST1 HGNC HGNC:7380 protein_coding YES CCDS33757.2 ENSP00000414287 G3XAK1 UPI0000EE2A31 NM_020998.3 tolerated(0.35) possibly_damaging(0.555) 1/18 PIRSF_domain:PIRSF001152,PIRSF_domain:PIRSF500185,hmmpanther:PTHR44106,hmmpanther:PTHR44106:SF5,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg not_provided 0,1 MODERATE 1 SNV 1 0,1 1 PASS GGG . . 0.2567 0.3393 0.2436 0.1331 0.3153 0.3602 0.2442 0.2001 0.1981 49688637 FAM3D . GRCh38 chr3 58645540 58645540 + Missense_Mutation SNP C C A 7316-496 BS_83YQS965 C C c.232G>T p.Val78Leu p.V78L ENST00000358781 5/10 62 54 8 43 43 0 FAM3D,missense_variant,p.Val78Leu,ENST00000358781,NM_138805.2;FAM3D,missense_variant,p.Val77Leu,ENST00000483787,;FAM3D,missense_variant,p.Val41Leu,ENST00000489857,;FAM3D,missense_variant,p.Val78Leu,ENST00000498347,;FAM3D,3_prime_UTR_variant,,ENST00000482623,; A ENSG00000198643 ENST00000358781 Transcript missense_variant 543/1319 232/675 78/224 V/L Gtg/Ttg COSM1251869 1 -1 FAM3D HGNC HGNC:18665 protein_coding YES CCDS2893.1 ENSP00000351632 Q96BQ1 A0A0A8K9B4 UPI00000015C6 NM_138805.2 deleterious(0.01) benign(0.213) 5/10 hmmpanther:PTHR14592,hmmpanther:PTHR14592:SF9,cd13940 1 MODERATE 1 SNV 1 1 PASS ACG . . 58645540 NSUN2 . GRCh38 chr5 6609927 6609928 + Splice_Region DEL AT AT - rs774155983 7316-496 BS_83YQS965 AT AT c.1227-6_1227-5del ENST00000264670 72 62 6 34 28 0 NSUN2,splice_region_variant,,ENST00000264670,NM_017755.5;NSUN2,splice_region_variant,,ENST00000506139,NM_001193455.1;NSUN2,splice_region_variant,,ENST00000504374,;NSUN2,splice_region_variant,,ENST00000505892,;NSUN2,upstream_gene_variant,,ENST00000507888,;NSUN2,upstream_gene_variant,,ENST00000514127,; - ENSG00000037474 ENST00000264670 Transcript splice_region_variant,intron_variant rs774155983 1 -1 NSUN2 HGNC HGNC:25994 protein_coding YES CCDS3869.1 ENSP00000264670 Q08J23 UPI000020BF2B NM_017755.5 11/18 LOW 1 deletion 1 1 PASS AAATA . . 0.0002392 0.0006216 0.0003443 0.000509 0.000191 0.0001884 6609926 ARSB . GRCh38 chr5 78985245 78985245 + Missense_Mutation SNP C C A novel 7316-496 BS_83YQS965 C C c.4G>T p.Gly2Cys p.G2C ENST00000264914 1/8 93 70 19 38 37 0 ARSB,missense_variant,p.Gly2Cys,ENST00000264914,NM_000046.3;ARSB,missense_variant,p.Gly2Cys,ENST00000565165,;ARSB,missense_variant,p.Gly2Cys,ENST00000396151,NM_198709.2;ARSB,missense_variant,p.Gly2Cys,ENST00000521117,;,regulatory_region_variant,,ENSR00000183042,; A ENSG00000113273 ENST00000264914 Transcript missense_variant 543/5329 4/1602 2/533 G/C Ggt/Tgt 1 -1 ARSB HGNC HGNC:714 protein_coding YES CCDS4043.1 ENSP00000264914 P15848 A0A024RAJ9 UPI00001260A3 NM_000046.3 deleterious_low_confidence(0.02) benign(0.001) 1/8 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS CCC . . 78985245 ZNF696 . GRCh38 chr8 143296520 143296520 + Missense_Mutation SNP A A G rs1191916261 7316-496 BS_83YQS965 A A c.845A>G p.Gln282Arg p.Q282R ENST00000330143 3/3 80 68 10 43 42 1 ZNF696,missense_variant,p.Gln282Arg,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; G ENSG00000185730 ENST00000330143 Transcript missense_variant 1254/2795 845/1125 282/374 Q/R cAg/cGg rs1191916261,COSM6332675 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 deleterious(0.04) benign(0.055) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CAG . . 4.306e-06 9.57e-06 143296520 TPRN . GRCh38 chr9 137199933 137199933 + Missense_Mutation SNP T T G rs867073404 7316-496 BS_83YQS965 T T c.779A>C p.His260Pro p.H260P ENST00000409012 1/4 53 30 17 14 13 0 TPRN,missense_variant,p.His260Pro,ENST00000409012,NM_001128228.2;TPRN,missense_variant,p.His58Pro,ENST00000333046,;TMEM203,downstream_gene_variant,,ENST00000343666,NM_053045.1;TPRN,intron_variant,,ENST00000541945,;TPRN,upstream_gene_variant,,ENST00000477345,;,regulatory_region_variant,,ENSR00000243156,; G ENSG00000176058 ENST00000409012 Transcript missense_variant 809/2661 779/2136 260/711 H/P cAc/cCc rs867073404,COSM4389458 1 -1 TPRN HGNC HGNC:26894 protein_coding YES CCDS56594.1 ENSP00000387100 Q4KMQ1 UPI0001722188 NM_001128228.2 deleterious(0.03) benign(0.36) 1/4 hmmpanther:PTHR21685,hmmpanther:PTHR21685:SF1,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTG . . 0.003633 0.001022 0.004609 0.002732 0.006716 0.001297 0.00421 0.003727 0.002263 137199933 KRTAP5-10 . GRCh38 chr11 71565679 71565679 + Missense_Mutation SNP A A G rs201471375 7316-496 BS_83YQS965 A A c.92A>G p.Tyr31Cys p.Y31C ENST00000398531 1/1 67 50 10 23 21 0 KRTAP5-10,missense_variant,p.Tyr31Cys,ENST00000398531,NM_001012710.1;AP000867.1,upstream_gene_variant,,ENST00000511464,; G ENSG00000204572 ENST00000398531 Transcript missense_variant 117/1176 92/609 31/202 Y/C tAt/tGt rs201471375,COSM4146278,COSM4146277 1 1 KRTAP5-10 HGNC HGNC:23605 protein_coding YES CCDS41684.1 ENSP00000381542 Q6L8G5 UPI0000376062 NM_001012710.1 benign(0) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF63,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 0,1,1 PASS TAT . . 0.0001067 0.001165 6.896e-05 0.0001419 3.824e-05 3.424e-05 71565679 PDE8A . GRCh38 chr15 85089338 85089338 + Missense_Mutation SNP G G T novel 7316-496 BS_83YQS965 G G c.636G>T p.Arg212Ser p.R212S ENST00000310298 8/23 93 84 5 49 49 0 PDE8A,missense_variant,p.Arg212Ser,ENST00000310298,;PDE8A,missense_variant,p.Arg212Ser,ENST00000394553,NM_002605.2;PDE8A,missense_variant,p.Arg140Ser,ENST00000557957,NM_001243137.1;PDE8A,missense_variant,p.Arg212Ser,ENST00000339708,NM_173454.1;PDE8A,intron_variant,,ENST00000557819,;PDE8A,missense_variant,p.Arg212Ser,ENST00000485596,;PDE8A,intron_variant,,ENST00000478717,;PDE8A,intron_variant,,ENST00000559086,;PDE8A,intron_variant,,ENST00000559742,;PDE8A,intron_variant,,ENST00000560789,; T ENSG00000073417 ENST00000310298 Transcript missense_variant,splice_region_variant 888/3984 636/2490 212/829 R/S agG/agT 1 1 PDE8A HGNC HGNC:8793 protein_coding YES CCDS10336.1 ENSP00000311453 O60658 UPI0000127C00 tolerated(0.06) probably_damaging(0.994) 8/23 Gene3D:3.30.450.20,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF85 MODERATE 1 SNV 1 PASS GGG . . 85089338 ARHGAP23P1 . GRCh38 chr16 33919909 33919909 + Splice_Region SNP G G A rs200672630 7316-496 BS_83YQS965 G G n.1382C>T ENST00000562773 10/15 46 35 11 29 28 0 ARHGAP23P1,splice_region_variant,,ENST00000562773,; A ENSG00000260781 ENST00000562773 Transcript splice_region_variant,non_coding_transcript_exon_variant 1382/1937 rs200672630 1 -1 ARHGAP23P1 HGNC HGNC:45039 transcribed_unprocessed_pseudogene YES 10/15 0.0004 0.0015 LOW 1 SNV PASS CGC . . 33919909 ZNF329 . GRCh38 chr19 58132679 58132679 + Splice_Region SNP G G A rs1476692511 7316-496 BS_83YQS965 G G c.-443-3C>T ENST00000597186 69 57 7 31 29 0 ZNF329,splice_region_variant,,ENST00000597186,;ZNF329,intron_variant,,ENST00000358067,;ZNF329,intron_variant,,ENST00000598312,NM_024620.3;ZNF329,intron_variant,,ENST00000601887,;ZNF329,intron_variant,,ENST00000500161,;AC008751.1,upstream_gene_variant,,ENST00000600438,; A ENSG00000181894 ENST00000597186 Transcript splice_region_variant,intron_variant rs1476692511 1 -1 ZNF329 HGNC HGNC:14209 protein_coding YES CCDS12972.1 ENSP00000470323 Q86UD4 A0A024R4Q4 UPI0000246E79 3/4 LOW 1 SNV 5 PASS TGA . . 58132679 TXLNG . GRCh38 chrX 16832726 16832727 + Frame_Shift_Del DEL AG AG - rs746161961 7316-496 BS_83YQS965 AG AG c.980_981del p.Glu327ValfsTer33 p.E327Vfs*33 ENST00000380122 6/10 74 65 5 36 35 0 TXLNG,frameshift_variant,p.Glu327ValfsTer33,ENST00000380122,NM_018360.2;TXLNG,frameshift_variant,p.Glu195ValfsTer33,ENST00000398155,NM_001168683.1; - ENSG00000086712 ENST00000380122 Transcript frameshift_variant 1029-1030/4401 968-969/1587 323/528 Q/X cAG/c rs746161961,COSM1118548 1 1 TXLNG HGNC HGNC:18578 protein_coding YES CCDS14178.1 ENSP00000369465 Q9NUQ3 UPI00001AE847 NM_018360.2 6/10 Pfam_domain:PF09728,hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF14 0,1 HIGH 1 deletion 1 12 0,1 PASS TCAGA . . 0.0009733 0.001032 0.001196 0.001651 0.0008745 0.001081 0.0008388 0.0009372 0.0009745 16832725 HMGN5 . GRCh38 chrX 81114934 81114934 + Missense_Mutation SNP A A T novel 7316-496 BS_83YQS965 A A c.564T>A p.Asp188Glu p.D188E ENST00000358130 7/7 79 66 6 37 36 1 HMGN5,missense_variant,p.Asp188Glu,ENST00000358130,NM_030763.2;HMGN5,missense_variant,p.Asp168Glu,ENST00000447319,;HMGN5,downstream_gene_variant,,ENST00000373250,;HMGN5,downstream_gene_variant,,ENST00000430960,;HMGN5,downstream_gene_variant,,ENST00000436386,;HMGN5,downstream_gene_variant,,ENST00000451455,;HMGN5,downstream_gene_variant,,ENST00000491275,; T ENSG00000198157 ENST00000358130 Transcript missense_variant 893/2126 564/849 188/282 D/E gaT/gaA 1 -1 HMGN5 HGNC HGNC:8013 protein_coding YES CCDS14448.1 ENSP00000350848 P82970 UPI0000130542 NM_030763.2 deleterious(0.05) benign(0.099) 7/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23087 MODERATE 1 SNV 2 PASS CAT . . 81114934 DMRTB1 . GRCh38 chr1 53459863 53459863 + Missense_Mutation SNP T T G novel 7316-2758 BS_W4ZEEWZA T T c.410T>G p.Val137Gly p.V137G ENST00000371445 1/4 112 101 10 31 31 0 DMRTB1,missense_variant,p.Val137Gly,ENST00000371445,NM_033067.2;DMRTB1,upstream_gene_variant,,ENST00000463126,; G ENSG00000143006 ENST00000371445 Transcript missense_variant 465/1910 410/1029 137/342 V/G gTt/gGt 1 1 DMRTB1 HGNC HGNC:13913 protein_coding YES CCDS581.1 ENSP00000360500 Q96MA1 UPI000006FF4C NM_033067.2 tolerated(0.31) benign(0.007) 1/4 hmmpanther:PTHR12322:SF66,hmmpanther:PTHR12322 MODERATE 1 SNV 1 PASS GTT . . 53459863 RPTN . GRCh38 chr1 152156009 152156009 + Missense_Mutation SNP C C T rs532048394 7316-2758 BS_W4ZEEWZA C C c.1090G>A p.Gly364Ser p.G364S ENST00000316073 3/3 75 66 6 37 37 0 RPTN,missense_variant,p.Gly364Ser,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; T ENSG00000215853 ENST00000316073 Transcript missense_variant 1155/3569 1090/2355 364/784 G/S Ggt/Agt rs532048394 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0.0004 0.0015 MODERATE 1 SNV 1 PASS CCC . . 8.137e-06 1.796e-05 152156009 FLG2 . GRCh38 chr1 152351494 152351494 + Missense_Mutation SNP C C G 7316-2758 BS_W4ZEEWZA C C c.6292G>C p.Ala2098Pro p.A2098P ENST00000388718 3/3 80 62 5 30 29 0 FLG2,missense_variant,p.Ala2098Pro,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 6365/9124 6292/7176 2098/2391 A/P Gct/Cct COSM1491714 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.16) benign(0.133) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS GCT . . 152351494 FLG2 . GRCh38 chr1 152352111 152352111 + Missense_Mutation SNP C C A rs1292844325 7316-2758 BS_W4ZEEWZA C C c.5675G>T p.Gly1892Val p.G1892V ENST00000388718 3/3 92 77 12 41 41 0 FLG2,missense_variant,p.Gly1892Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 5748/9124 5675/7176 1892/2391 G/V gGc/gTc rs1292844325,COSM6264550 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCC . . 152352111 SLAMF1 . GRCh38 chr1 160619810 160619811 + Frame_Shift_Ins INS - - T rs751442558 7316-2758 BS_W4ZEEWZA - - c.912dup p.Ala305SerfsTer? p.A305Sfs*? ENST00000538290 6/8 78 66 6 34 30 0 SLAMF1,frameshift_variant,p.Ser277LysfsTer19,ENST00000302035,NM_003037.3;SLAMF1,frameshift_variant,p.Ala305SerfsTer?,ENST00000538290,;SLAMF1,intron_variant,,ENST00000235739,; T ENSG00000117090 ENST00000538290 Transcript frameshift_variant 925-926/1087 912-913/1074 304-305/357 -/X -/A rs751442558 1 -1 SLAMF1 HGNC HGNC:10903 protein_coding YES CCDS81389.1 ENSP00000438406 Q13291 UPI0003E1547F 6/8 HIGH 1 insertion 1 PASS GCT . . 2.482e-05 4.547e-05 0.0001866 160619810 OR2T33 . GRCh38 chr1 248273507 248273507 + Missense_Mutation SNP G G A rs61832700 7316-2758 BS_W4ZEEWZA G G c.308C>T p.Pro103Leu p.P103L ENST00000641220 2/2 85 71 14 24 24 0 OR2T33,missense_variant,p.Pro103Leu,ENST00000641220,;OR2T33,missense_variant,p.Pro103Leu,ENST00000318021,NM_001004695.1; A ENSG00000177212 ENST00000641220 Transcript missense_variant 528/4118 308/963 103/320 P/L cCc/cTc rs61832700,COSM3997408 1 -1 OR2T33 HGNC HGNC:31255 protein_coding YES CCDS31109.1 ENSP00000493437 Q8NG76 UPI000004B237 tolerated(1) benign(0) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15421 0,1 MODERATE 1 SNV 0,1 PASS GGG . . 0.3462 0.276 0.3136 0.3866 0.1906 0.4418 0.3907 0.3286 0.258 248273507 CYS1 . GRCh38 chr2 10080223 10080223 + Translation_Start_Site SNP T T G novel 7316-2758 BS_W4ZEEWZA T T c.1A>C p.Met1? p.M1? ENST00000381813 1/3 100 80 11 31 28 1 CYS1,start_lost,p.Met1?,ENST00000381813,NM_001037160.2;AC104794.1,upstream_gene_variant,,ENST00000425235,;CYS1,intron_variant,,ENST00000477304,;,regulatory_region_variant,,ENSR00000112720,; G ENSG00000205795 ENST00000381813 Transcript start_lost 189/2738 1/477 1/158 M/L Atg/Ctg 1 -1 CYS1 HGNC HGNC:18525 protein_coding YES CCDS33145.1 ENSP00000371234 Q717R9 UPI00001D6281 NM_001037160.2 deleterious(0) benign(0.274) 1/3 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 10080223 TTC21A . GRCh38 chr3 39137063 39137063 + Splice_Region SNP A A G rs1194216726 7316-2758 BS_W4ZEEWZA A A c.3278+3A>G ENST00000431162 108 95 7 36 34 1 TTC21A,splice_region_variant,,ENST00000431162,NM_145755.2;TTC21A,splice_region_variant,,ENST00000440121,NM_001105513.2;CSRNP1,downstream_gene_variant,,ENST00000273153,NM_033027.3,NM_001320559.1;MIR6822,upstream_gene_variant,,ENST00000621888,;TTC21A,splice_region_variant,,ENST00000472866,;TTC21A,splice_region_variant,,ENST00000490245,;TTC21A,splice_region_variant,,ENST00000493856,;TTC21A,downstream_gene_variant,,ENST00000465962,;TTC21A,downstream_gene_variant,,ENST00000481734,;TTC21A,splice_region_variant,,ENST00000430597,;TTC21A,upstream_gene_variant,,ENST00000460460,;TTC21A,downstream_gene_variant,,ENST00000473587,;,regulatory_region_variant,,ENSR00000151058,; G ENSG00000168026 ENST00000431162 Transcript splice_region_variant,intron_variant rs1194216726 1 1 TTC21A HGNC HGNC:30761 protein_coding YES CCDS46800.1 ENSP00000398211 Q8NDW8 UPI00015D46B9 NM_145755.2 24/28 LOW 1 SNV 1 PASS TAA . . 39137063 MUC4 . GRCh38 chr3 195779039 195779039 + Missense_Mutation SNP T T C rs558861219 7316-2758 BS_W4ZEEWZA T T c.12541A>G p.Ser4181Gly p.S4181G ENST00000463781 2/25 59 40 9 25 21 0 MUC4,missense_variant,p.Ser4181Gly,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser4181Gly,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser4181Gly,ENST00000478156,;MUC4,missense_variant,p.Ser4181Gly,ENST00000466475,;MUC4,missense_variant,p.Ser4181Gly,ENST00000477756,;MUC4,missense_variant,p.Ser4181Gly,ENST00000477086,;MUC4,missense_variant,p.Ser4181Gly,ENST00000480843,;MUC4,missense_variant,p.Ser4181Gly,ENST00000462323,;MUC4,missense_variant,p.Ser4181Gly,ENST00000470451,;MUC4,missense_variant,p.Ser4181Gly,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 13001/17110 12541/16239 4181/5412 S/G Agc/Ggc rs558861219,COSM4157539 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.01) possibly_damaging(0.593) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0.0262 0.0189 0.0202 0.0268 0.0298 0.0358 0,1 MODERATE 1 SNV 5 0,1 1 PASS CTG . . 0.002541 0.005993 0.001663 0.002524 0.004466 0.003276 0.002776 0.003353 0.0004627 195779039 MUC4 . GRCh38 chr3 195780350 195780350 + Missense_Mutation SNP G G A rs200315207 7316-2758 BS_W4ZEEWZA G G c.11230C>T p.Pro3744Ser p.P3744S ENST00000463781 2/25 50 25 6 26 23 0 MUC4,missense_variant,p.Pro3744Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro3744Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro3744Ser,ENST00000478156,;MUC4,missense_variant,p.Pro3744Ser,ENST00000466475,;MUC4,missense_variant,p.Pro3744Ser,ENST00000477756,;MUC4,missense_variant,p.Pro3744Ser,ENST00000477086,;MUC4,missense_variant,p.Pro3744Ser,ENST00000480843,;MUC4,missense_variant,p.Pro3744Ser,ENST00000462323,;MUC4,missense_variant,p.Pro3744Ser,ENST00000470451,;MUC4,missense_variant,p.Pro3744Ser,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 11690/17110 11230/16239 3744/5412 P/S Cct/Tct rs200315207,COSM4594678 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.07) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGG . . 0.01079 0.06317 0.005458 0.01514 0.01674 0.005366 0.008091 0.01298 0.007662 195780350 MUC4 . GRCh38 chr3 195784025 195784025 + Missense_Mutation SNP G G A rs747010184 7316-2758 BS_W4ZEEWZA G G c.7555C>T p.Pro2519Ser p.P2519S ENST00000463781 2/25 71 57 6 39 38 0 MUC4,missense_variant,p.Pro2519Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2519Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2519Ser,ENST00000478156,;MUC4,missense_variant,p.Pro2519Ser,ENST00000466475,;MUC4,missense_variant,p.Pro2519Ser,ENST00000477756,;MUC4,missense_variant,p.Pro2519Ser,ENST00000477086,;MUC4,missense_variant,p.Pro2519Ser,ENST00000480843,;MUC4,missense_variant,p.Pro2519Ser,ENST00000462323,;MUC4,missense_variant,p.Pro2519Ser,ENST00000470451,;MUC4,missense_variant,p.Pro2519Ser,ENST00000479406,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 8015/17110 7555/16239 2519/5412 P/S Ccc/Tcc rs747010184,COSM2945417 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.84) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGA . . 6.895e-05 0.000185 0.0001196 0.000533 4.383e-05 5.42e-05 195784025 MUC4 . GRCh38 chr3 195784231 195784231 + Missense_Mutation SNP G G T 7316-2758 BS_W4ZEEWZA G G c.7349C>A p.Pro2450His p.P2450H ENST00000463781 2/25 33 23 6 26 25 0 MUC4,missense_variant,p.Pro2450His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2450His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2450His,ENST00000478156,;MUC4,missense_variant,p.Pro2450His,ENST00000466475,;MUC4,missense_variant,p.Pro2450His,ENST00000477756,;MUC4,missense_variant,p.Pro2450His,ENST00000477086,;MUC4,missense_variant,p.Pro2450His,ENST00000480843,;MUC4,missense_variant,p.Pro2450His,ENST00000462323,;MUC4,missense_variant,p.Pro2450His,ENST00000470451,;MUC4,missense_variant,p.Pro2450His,ENST00000479406,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 7809/17110 7349/16239 2450/5412 P/H cCt/cAt COSM4157758 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.14) possibly_damaging(0.897) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS AGG . . 195784231 CXXC4 . GRCh38 chr4 104491484 104491484 + Missense_Mutation SNP T T G novel 7316-2758 BS_W4ZEEWZA T T c.319A>C p.Ser107Arg p.S107R ENST00000394767 2/3 49 30 10 29 27 0 CXXC4,missense_variant,p.Ser107Arg,ENST00000394767,NM_025212.3;CXXC4-AS1,intron_variant,,ENST00000500179,;CXXC4,intron_variant,,ENST00000466963,;,regulatory_region_variant,,ENSR00000171402,; G ENSG00000168772 ENST00000394767 Transcript missense_variant 770/5565 319/1104 107/367 S/R Agc/Cgc 1 -1 CXXC4 HGNC HGNC:24593 protein_coding YES CCDS3665.2 ENSP00000378248 J9JIF5 UPI0000E5AC2D NM_025212.3 deleterious_low_confidence(0) unknown(0) 2/3 Low_complexity_(Seg):seg MODERATE SNV 5 PASS CTG . . 104491484 LINC02101 . GRCh38 chr5 58108417 58108418 + Splice_Region INS - - A rs1260608109 7316-2758 BS_W4ZEEWZA - - n.392-3dup ENST00000505861 68 49 11 35 31 0 LINC02101,splice_region_variant,,ENST00000505861,; A ENSG00000248132 ENST00000505861 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1260608109 1 -1 LINC02101 HGNC HGNC:52956 lincRNA YES 4/4 LOW 1 insertion 4 PASS CTA . . 58108417 SOX4 . GRCh38 chr6 21595032 21595032 + Missense_Mutation SNP T T G novel 7316-2758 BS_W4ZEEWZA T T c.498T>G p.His166Gln p.H166Q ENST00000244745 1/1 97 82 8 30 28 1 SOX4,missense_variant,p.His166Gln,ENST00000244745,NM_003107.2;AL512380.2,intron_variant,,ENST00000637901,;,regulatory_region_variant,,ENSR00000194547,;,TF_binding_site_variant,,MA0162.2,; G ENSG00000124766 ENST00000244745 Transcript missense_variant 2265/5852 498/1425 166/474 H/Q caT/caG 1 1 SOX4 HGNC HGNC:11200 protein_coding YES CCDS4547.1 ENSP00000244745 Q06945 UPI0000047FA0 NM_003107.2 tolerated_low_confidence(0.62) benign(0.014) 1/1 Gene3D:1.10.30.10,PIRSF_domain:PIRSF038098,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF27,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS ATG . . 21595032 MUCL3 . GRCh38 chr6 30951324 30951324 + Missense_Mutation SNP G G T novel 7316-2758 BS_W4ZEEWZA G G c.2860G>T p.Ala954Ser p.A954S ENST00000462446 2/3 63 43 7 23 21 0 MUCL3,missense_variant,p.Ala1021Ser,ENST00000636043,;MUCL3,missense_variant,p.Ala954Ser,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320203,; T ENSG00000168631 ENST00000462446 Transcript missense_variant 2888/5314 2860/4182 954/1393 A/S Gcc/Tcc 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.52) possibly_damaging(0.451) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS GGC . . 30951324 HLA-DQB2 . GRCh38 chr6 32757790 32757790 + Missense_Mutation SNP C C T rs77504727 7316-2758 BS_W4ZEEWZA C C c.740G>A p.Arg247His p.R247H ENST00000437316 4/6 75 68 7 39 39 0 HLA-DQB2,missense_variant,p.Arg247His,ENST00000435145,;HLA-DQB2,missense_variant,p.Arg247His,ENST00000437316,NM_001300790.1;HLA-DQB2,intron_variant,,ENST00000411527,NM_001198858.1;HLA-DQB2,intron_variant,,ENST00000427449,; T ENSG00000232629 ENST00000437316 Transcript missense_variant 804/1214 740/795 247/264 R/H cGt/cAt rs77504727,COSM3830234 1 -1 HLA-DQB2 HGNC HGNC:4945 protein_coding YES CCDS78128.1 ENSP00000396330 Q5SR05 UPI00001AF359 NM_001300790.1 tolerated(1) benign(0.005) 4/6 hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF68 0,1 MODERATE 1 SNV 0,1 PASS ACG . . 0.1007 0.05716 0.1337 0.1474 0.05338 0.07654 0.108 0.08825 0.1012 32757790 ZFAND3 . GRCh38 chr6 37820012 37820012 + Missense_Mutation SNP T T G novel 7316-2758 BS_W4ZEEWZA T T c.67T>G p.Trp23Gly p.W23G ENST00000287218 1/6 109 90 11 28 28 0 ZFAND3,missense_variant,p.Trp23Gly,ENST00000287218,NM_021943.2;ZFAND3,missense_variant,p.Trp23Gly,ENST00000373391,;ZFAND3,missense_variant,p.Trp23Gly,ENST00000474522,;AL121574.1,upstream_gene_variant,,ENST00000415890,;,regulatory_region_variant,,ENSR00000196459,; G ENSG00000156639 ENST00000287218 Transcript missense_variant 514/3366 67/684 23/227 W/G Tgg/Ggg 1 1 ZFAND3 HGNC HGNC:18019 protein_coding YES CCDS4836.1 ENSP00000287218 Q9H8U3 A0A024RD12 UPI000006E3A4 NM_021943.2 deleterious(0.01) possibly_damaging(0.534) 1/6 Pfam_domain:PF01754,PROSITE_profiles:PS51036,hmmpanther:PTHR10634,hmmpanther:PTHR10634:SF5,SMART_domains:SM00259,Superfamily_domains:SSF57716 MODERATE 1 SNV 1 PASS CTG . . 37820012 RADIL . GRCh38 chr7 4803543 4803543 + Splice_Region SNP T T G 7316-2758 BS_W4ZEEWZA T T c.2499+3A>C ENST00000399583 120 99 11 31 28 0 RADIL,splice_region_variant,,ENST00000399583,NM_018059.4;RADIL,splice_region_variant,,ENST00000445392,;RADIL,splice_region_variant,,ENST00000472999,;RADIL,splice_region_variant,,ENST00000473130,;RADIL,downstream_gene_variant,,ENST00000469399,; G ENSG00000157927 ENST00000399583 Transcript splice_region_variant,intron_variant COSM5662312 1 -1 RADIL HGNC HGNC:22226 protein_coding YES CCDS43544.1 ENSP00000382492 Q96JH8 UPI0000E0A787 NM_018059.4 11/14 1 LOW 1 SNV 5 1 PASS GTA . . 4803543 CCZ1B . GRCh38 chr7 6799284 6799284 + Splice_Region SNP A A G rs80105188 7316-2758 BS_W4ZEEWZA A A c.1394-5T>C ENST00000316731 63 52 11 33 33 0 CCZ1B,splice_region_variant,,ENST00000316731,NM_198097.3;CCZ1B,splice_region_variant,,ENST00000626257,;RSPH10B2,downstream_gene_variant,,ENST00000297186,;RSPH10B2,downstream_gene_variant,,ENST00000403107,;RSPH10B2,downstream_gene_variant,,ENST00000404077,NM_001099697.1;CCZ1B,splice_region_variant,,ENST00000472464,;CCZ1B,splice_region_variant,,ENST00000481830,;CCZ1B,upstream_gene_variant,,ENST00000429267,;RSPH10B2,downstream_gene_variant,,ENST00000463354,;CCZ1B,upstream_gene_variant,,ENST00000597208,;CCZ1B,splice_region_variant,,ENST00000467004,;CCZ1B,splice_region_variant,,ENST00000468078,;RSPH10B2,3_prime_UTR_variant,,ENST00000485920,; G ENSG00000146574 ENST00000316731 Transcript splice_region_variant,intron_variant rs80105188,COSM3982253 1 -1 CCZ1B HGNC HGNC:21717 protein_coding YES CCDS5354.1 ENSP00000314544 P86790 UPI000006CEFF NM_198097.3 14/14 0,1 LOW 1 SNV 1 0,1 PASS CAA . . 0.0275 0.03227 0.04575 0.03848 0.02904 0.02331 0.02121 0.03399 0.04851 6799284 NACAD . GRCh38 chr7 45083467 45083467 + Missense_Mutation SNP G G T rs756470140 7316-2758 BS_W4ZEEWZA G G c.2713C>A p.Pro905Thr p.P905T ENST00000490531 2/8 66 53 12 25 25 0 NACAD,missense_variant,p.Pro905Thr,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,; T ENSG00000136274 ENST00000490531 Transcript missense_variant 2733/4780 2713/4689 905/1562 P/T Cct/Act rs756470140,COSM4162235 1 -1 NACAD HGNC HGNC:22196 protein_coding YES CCDS47582.1 ENSP00000420477 O15069 UPI00001D747D NM_001146334.1 tolerated(0.2) benign(0.001) 2/8 hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF1,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS GGC . . 8.396e-05 0.0005556 0.0001187 8.902e-05 6.068e-05 5.457e-05 45083467 TRBV7-4 . GRCh38 chr7 142455559 142455559 + Missense_Mutation SNP A A G rs1173337964 7316-2758 BS_W4ZEEWZA A A c.271A>G p.Arg91Gly p.R91G ENST00000390369 2/2 85 73 12 33 31 0 TRBV7-4,missense_variant,p.Arg91Gly,ENST00000390369,;TRBV6-5,downstream_gene_variant,,ENST00000390368,;,regulatory_region_variant,,ENSR00000219246,; G ENSG00000253409 ENST00000390369 Transcript missense_variant 271/347 271/347 91/115 R/G Aga/Gga rs1173337964 1 1 TRBV7-4 HGNC HGNC:12238 TR_V_gene YES ENSP00000374892 A0A1B0GX95 UPI00053BD5AB tolerated(1) benign(0) 2/2 MODERATE 1 SNV PASS GAG . . 142455559 MAFA . GRCh38 chr8 143429787 143429787 + Missense_Mutation SNP T T G novel 7316-2758 BS_W4ZEEWZA T T c.620A>C p.His207Pro p.H207P ENST00000333480 1/1 71 47 11 16 16 0 MAFA,missense_variant,p.His207Pro,ENST00000333480,NM_201589.3;MAFA,non_coding_transcript_exon_variant,,ENST00000528185,; G ENSG00000182759 ENST00000333480 Transcript missense_variant 620/2347 620/1062 207/353 H/P cAc/cCc 1 -1 MAFA HGNC HGNC:23145 protein_coding YES CCDS34955.1 ENSP00000328364 Q8NHW3 UPI00001B0366 NM_201589.3 tolerated(0.36) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10129,hmmpanther:PTHR10129:SF30,Gene3D:1.10.880.10 MODERATE 1 SNV 1 PASS GTG . . 143429787 MCU . GRCh38 chr10 72692251 72692251 + Missense_Mutation SNP T T G novel 7316-2758 BS_W4ZEEWZA T T c.100T>G p.Phe34Val p.F34V ENST00000373053 1/8 90 79 11 37 37 0 MCU,missense_variant,p.Phe34Val,ENST00000373053,NM_138357.2;MCU,missense_variant,p.Phe34Val,ENST00000357157,NM_001270679.1;MCU,upstream_gene_variant,,ENST00000536019,NM_001270680.1;MCU,missense_variant,p.Phe34Val,ENST00000604679,;MCU,missense_variant,p.Phe34Val,ENST00000604372,;MCU,missense_variant,p.Phe34Val,ENST00000603649,;MCU,upstream_gene_variant,,ENST00000605597,;,regulatory_region_variant,,ENSR00000029749,; G ENSG00000156026 ENST00000373053 Transcript missense_variant 121/2949 100/1056 34/351 F/V Ttc/Gtc 1 1 MCU HGNC HGNC:23526 protein_coding YES CCDS7317.1 ENSP00000362144 Q8NE86 UPI000006F233 NM_138357.2 tolerated(0.51) benign(0.007) 1/8 hmmpanther:PTHR13462,hmmpanther:PTHR13462:SF16,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS CTT . . 72692251 DRD4 . GRCh38 chr11 639988 639988 + Missense_Mutation SNP A A C rs1259678547 7316-2758 BS_W4ZEEWZA A A c.739A>C p.Thr247Pro p.T247P ENST00000176183 3/4 111 76 20 18 15 0 DRD4,missense_variant,p.Thr247Pro,ENST00000176183,NM_000797.3;DEAF1,downstream_gene_variant,,ENST00000382409,NM_021008.3,NM_001293634.1;DEAF1,downstream_gene_variant,,ENST00000527658,;DRD4,downstream_gene_variant,,ENST00000528733,;DEAF1,downstream_gene_variant,,ENST00000527170,;,regulatory_region_variant,,ENSR00000035666,; C ENSG00000069696 ENST00000176183 Transcript missense_variant 751/1375 739/1260 247/419 T/P Acg/Ccg rs1259678547 1 1 DRD4 HGNC HGNC:3025 protein_coding YES CCDS7710.1 ENSP00000176183 P21917 UPI000011F17B NM_000797.3 tolerated(0.35) benign(0.007) 3/4 Low_complexity_(Seg):seg,mobidb-lite,cd15308,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,PROSITE_profiles:PS50262,hmmpanther:PTHR44250,hmmpanther:PTHR44250:SF1 MODERATE 1 SNV 1 1 PASS CAC . . 639988 MUC5AC . GRCh38 chr11 1189301 1189301 + Missense_Mutation SNP C C G rs1388322920 7316-2758 BS_W4ZEEWZA C C c.11156C>G p.Thr3719Ser p.T3719S ENST00000621226 31/49 61 52 6 27 25 0 MUC5AC,missense_variant,p.Thr3719Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; G ENSG00000215182 ENST00000621226 Transcript missense_variant 11203/17448 11156/16965 3719/5654 T/S aCc/aGc rs1388322920 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.84) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ACC . . 1189301 TNKS1BP1 . GRCh38 chr11 57302775 57302775 + Missense_Mutation SNP A A C novel 7316-2758 BS_W4ZEEWZA A A c.4367T>G p.Leu1456Arg p.L1456R ENST00000532437 6/11 96 83 10 27 27 0 TNKS1BP1,missense_variant,p.Leu1456Arg,ENST00000532437,;TNKS1BP1,missense_variant,p.Leu1456Arg,ENST00000358252,NM_033396.2;TNKS1BP1,non_coding_transcript_exon_variant,,ENST00000427750,;TNKS1BP1,intron_variant,,ENST00000528882,;TNKS1BP1,upstream_gene_variant,,ENST00000532273,; C ENSG00000149115 ENST00000532437 Transcript missense_variant 4679/5952 4367/5190 1456/1729 L/R cTg/cGg 1 -1 TNKS1BP1 HGNC HGNC:19081 protein_coding YES CCDS7951.1 ENSP00000437271 Q9C0C2 A0A024R542 UPI000013DB72 deleterious(0.02) possibly_damaging(0.899) 6/11 hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF2,mobidb-lite MODERATE 1 SNV 1 PASS CAG . . 57302775 AHNAK . GRCh38 chr11 62526050 62526050 + Missense_Mutation SNP G G C rs1471922470 7316-2758 BS_W4ZEEWZA G G c.8367C>G p.Asn2789Lys p.N2789K ENST00000378024 5/5 104 91 8 31 31 0 AHNAK,missense_variant,p.Asn2789Lys,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; C ENSG00000124942 ENST00000378024 Transcript missense_variant 8642/18787 8367/17673 2789/5890 N/K aaC/aaG rs1471922470 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.31) benign(0.014) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 MODERATE 1 SNV 2 PASS GGT . . 62526050 SLCO1A2 . GRCh38 chr12 21304581 21304581 + Splice_Region DEL A A - rs3833795 7316-2758 BS_W4ZEEWZA A A c.443-8del ENST00000307378 80 71 5 39 36 0 SLCO1A2,splice_region_variant,,ENST00000307378,NM_134431.3,NM_021094.3;SLCO1A2,splice_region_variant,,ENST00000413682,;SLCO1A2,splice_region_variant,,ENST00000458504,;SLCO1A2,downstream_gene_variant,,ENST00000422327,;SLCO1A2,downstream_gene_variant,,ENST00000453443,;SLCO1A2,splice_region_variant,,ENST00000463718,;SLCO1A2,splice_region_variant,,ENST00000480394,;SLCO1A2,splice_region_variant,,ENST00000544020,;SLCO1A2,splice_region_variant,,ENST00000544290,; - ENSG00000084453 ENST00000307378 Transcript splice_region_variant,intron_variant rs3833795,TMP_ESP_12_21457515_21457515 1 -1 SLCO1A2 HGNC HGNC:10956 protein_coding YES CCDS8686.1 ENSP00000305974 P46721 A0A024RAT5 UPI0000037575 NM_134431.3,NM_021094.3 6/15 0.3416 0.5703 0.1686 0.372 0.1819 0.2791 0.5164 0.1866 LOW 1 deletion 1 PASS TTAA . . 0.313 0.5709 0.2447 0.3505 0.4533 0.2487 0.2601 0.3146 0.3578 21304580 FAM186A . GRCh38 chr12 50353336 50353336 + Nonsense_Mutation SNP T T A 7316-2758 BS_W4ZEEWZA T T c.3496A>T p.Lys1166Ter p.K1166* ENST00000327337 4/8 69 48 7 38 32 0 FAM186A,stop_gained,p.Lys1166Ter,ENST00000543111,;FAM186A,stop_gained,p.Lys1166Ter,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; A ENSG00000185958 ENST00000327337 Transcript stop_gained 3496/7127 3496/7056 1166/2351 K/* Aaa/Taa COSM6277847 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 1 HIGH 1 SNV 5 1 PASS TTC . . 50353336 HIP1R . GRCh38 chr12 122855907 122855908 + Splice_Region INS - - G rs3215146 7316-2758 BS_W4ZEEWZA - - c.1128+8dup ENST00000253083 105 68 17 28 28 0 HIP1R,splice_region_variant,,ENST00000253083,NM_003959.2;HIP1R,upstream_gene_variant,,ENST00000535012,;HIP1R,splice_region_variant,,ENST00000452196,NM_001303097.1;HIP1R,splice_region_variant,,ENST00000535831,NM_001303099.1;HIP1R,splice_region_variant,,ENST00000536847,;HIP1R,upstream_gene_variant,,ENST00000536617,;HIP1R,downstream_gene_variant,,ENST00000536772,;HIP1R,upstream_gene_variant,,ENST00000538236,;HIP1R,upstream_gene_variant,,ENST00000541712,; G ENSG00000130787 ENST00000253083 Transcript splice_region_variant,intron_variant rs3215146 1 1 HIP1R HGNC HGNC:18415 protein_coding YES CCDS31922.1 ENSP00000253083 O75146 UPI000012C72C NM_003959.2 13/31 LOW 1 insertion 1 4 PASS GCG . . 122855907 ARGLU1 . GRCh38 chr13 106567726 106567726 + Missense_Mutation SNP A A C novel 7316-2758 BS_W4ZEEWZA A A c.194T>G p.Val65Gly p.V65G ENST00000400198 1/4 92 65 17 23 21 0 ARGLU1,missense_variant,p.Val65Gly,ENST00000400198,NM_018011.3;ARGLU1,upstream_gene_variant,,ENST00000360629,;,regulatory_region_variant,,ENSR00000065521,; C ENSG00000134884 ENST00000400198 Transcript missense_variant 439/3390 194/822 65/273 V/G gTg/gGg 1 -1 ARGLU1 HGNC HGNC:25482 protein_coding YES CCDS41906.1 ENSP00000383059 Q9NWB6 A0A024RDW4 UPI00000373ED NM_018011.3 tolerated(0.25) benign(0) 1/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR31711:SF1,hmmpanther:PTHR31711 MODERATE 1 SNV 1 PASS CAC . . 106567726 PSMB11 . GRCh38 chr14 23042638 23042638 + Missense_Mutation SNP A A C novel 7316-2758 BS_W4ZEEWZA A A c.413A>C p.Gln138Pro p.Q138P ENST00000408907 1/1 87 81 6 33 33 0 PSMB11,missense_variant,p.Gln138Pro,ENST00000408907,NM_001099780.1;CDH24,downstream_gene_variant,,ENST00000397359,NM_022478.3;CDH24,downstream_gene_variant,,ENST00000487137,NM_144985.3;CDH24,downstream_gene_variant,,ENST00000610348,;CDH24,downstream_gene_variant,,ENST00000485922,; C ENSG00000222028 ENST00000408907 Transcript missense_variant 472/2110 413/903 138/300 Q/P cAa/cCa 1 1 PSMB11 HGNC HGNC:31963 protein_coding YES CCDS41923.1 ENSP00000386212 A5LHX3 UPI00001D7B85 NM_001099780.1 tolerated(0.33) benign(0) 1/1 PROSITE_profiles:PS51476,cd03761,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF48,Gene3D:3.60.20.10,Pfam_domain:PF00227,Superfamily_domains:SSF56235 MODERATE SNV PASS CAA . . 23042638 COCH . GRCh38 chr14 30877583 30877583 + Missense_Mutation SNP A A C novel 7316-2758 BS_W4ZEEWZA A A c.94A>C p.Ile32Leu p.I32L ENST00000644874 3/11 82 75 7 35 35 0 COCH,missense_variant,p.Ile32Leu,ENST00000644874,NM_001135058.1;COCH,missense_variant,p.Ile97Leu,ENST00000216361,;COCH,missense_variant,p.Ile32Leu,ENST00000396618,NM_004086.2;COCH,missense_variant,p.Ile32Leu,ENST00000475087,;COCH,missense_variant,p.Ile32Leu,ENST00000555117,;COCH,missense_variant,p.Ile32Leu,ENST00000643575,;COCH,missense_variant,p.Ile16Leu,ENST00000556908,;COCH,5_prime_UTR_variant,,ENST00000460581,;COCH,intron_variant,,ENST00000555881,;COCH,upstream_gene_variant,,ENST00000468826,;AL049830.3,intron_variant,,ENST00000555108,;COCH,non_coding_transcript_exon_variant,,ENST00000643697,;COCH,missense_variant,p.Ile4Leu,ENST00000557065,;COCH,missense_variant,p.Ile32Leu,ENST00000553772,;COCH,non_coding_transcript_exon_variant,,ENST00000553833,; C ENSG00000100473 ENST00000644874 Transcript missense_variant 498/2884 94/1653 32/550 I/L Atc/Ctc 1 1 COCH HGNC HGNC:2180 protein_coding YES CCDS9640.1 ENSP00000496360 UPI0000048EBB NM_001135058.1 deleterious(0.03) benign(0.267) 3/11 Gene3D:2.170.130.20,PROSITE_profiles:PS50820,hmmpanther:PTHR44729,SMART_domains:SM00603,Superfamily_domains:SSF69848 MODERATE SNV 1 PASS TAT . . 30877583 OTUB2 . GRCh38 chr14 94026539 94026539 + Translation_Start_Site SNP T T G rs1205018327 7316-2758 BS_W4ZEEWZA T T c.2T>G p.Met1? p.M1? ENST00000203664 1/6 92 78 9 38 38 0 OTUB2,start_lost,p.Met1?,ENST00000203664,NM_023112.3;OTUB2,start_lost,p.Met1?,ENST00000553723,;,regulatory_region_variant,,ENSR00000072465,; G ENSG00000089723 ENST00000203664 Transcript start_lost,splice_region_variant 211/3922 2/705 1/234 M/R aTg/aGg rs1205018327 1 1 OTUB2 HGNC HGNC:20351 protein_coding YES CCDS9917.1 ENSP00000203664 Q96DC9 UPI000000D869 NM_023112.3 deleterious_low_confidence(0.03) possibly_damaging(0.537) 1/6 PIRSF_domain:PIRSF013503,hmmpanther:PTHR12931,hmmpanther:PTHR12931:SF3 HIGH 1 SNV 1 PASS ATG . . 94026539 GOLGA6L2 . GRCh38 chr15 23441555 23441555 + Missense_Mutation SNP C C A novel 7316-2758 BS_W4ZEEWZA C C c.920G>T p.Gly307Val p.G307V ENST00000567107 8/8 81 66 7 33 33 0 GOLGA6L2,missense_variant,p.Gly307Val,ENST00000567107,NM_001304388.1;GOLGA6L2,missense_variant,p.Gly34Val,ENST00000345070,;GOLGA6L2,missense_variant,p.Gly295Val,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; A ENSG00000174450 ENST00000567107 Transcript missense_variant 973/3030 920/2730 307/909 G/V gGg/gTg 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 tolerated_low_confidence(0.21) benign(0.003) 8/8 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21 MODERATE 1 SNV 5 PASS CCC . . 23441555 CHST14 . GRCh38 chr15 40471251 40471251 + Missense_Mutation SNP A A C novel 7316-2758 BS_W4ZEEWZA A A c.38A>C p.Asn13Thr p.N13T ENST00000306243 1/1 76 65 9 26 25 0 CHST14,missense_variant,p.Asn13Thr,ENST00000306243,NM_130468.3;CHST14,missense_variant,p.Asn13Thr,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000416165,NM_014952.4;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000561234,NM_001301132.1;AC013356.2,upstream_gene_variant,,ENST00000559730,;,regulatory_region_variant,,ENSR00000075526,; C ENSG00000169105 ENST00000306243 Transcript missense_variant 254/3574 38/1131 13/376 N/T aAt/aCt 1 1 CHST14 HGNC HGNC:24464 protein_coding YES CCDS10059.1 ENSP00000307297 Q8NCH0 UPI000004616D NM_130468.3 tolerated_low_confidence(0.6) benign(0.006) 1/1 MODERATE SNV 1 PASS AAT . . 40471251 SEMA4B . GRCh38 chr15 90201624 90201624 + Missense_Mutation SNP T T G novel 7316-2758 BS_W4ZEEWZA T T c.46T>G p.Trp16Gly p.W16G ENST00000411539 1/14 82 73 9 21 21 0 SEMA4B,missense_variant,p.Trp16Gly,ENST00000411539,NM_001324032.1,NM_001324034.1,NM_001324033.1,NM_198925.2,NM_001324031.1;SEMA4B,missense_variant,p.Trp16Gly,ENST00000332496,NM_001324030.1,NM_001324029.1,NM_020210.3;SEMA4B,missense_variant,p.Trp16Gly,ENST00000559792,;SEMA4B,missense_variant,p.Trp16Gly,ENST00000559322,;SEMA4B,missense_variant,p.Trp16Gly,ENST00000558895,;SEMA4B,intron_variant,,ENST00000561085,;SEMA4B,non_coding_transcript_exon_variant,,ENST00000558051,;SEMA4B,missense_variant,p.Trp16Gly,ENST00000560089,;SEMA4B,intron_variant,,ENST00000559300,;,regulatory_region_variant,,ENSR00000081022,;RPS12P26,upstream_gene_variant,,ENST00000492017,; G ENSG00000185033 ENST00000411539 Transcript missense_variant 306/3807 46/2514 16/837 W/G Tgg/Ggg 1 1 SEMA4B HGNC HGNC:10730 protein_coding YES CCDS45347.1 ENSP00000394720 J3KNP4 UPI0000197391 NM_001324032.1,NM_001324034.1,NM_001324033.1,NM_198925.2,NM_001324031.1 deleterious_low_confidence(0.01) benign(0) 1/14 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 PASS ATG . . 90201624 TPSAB1 . GRCh38 chr16 1241453 1241453 + Missense_Mutation SNP G G A rs201351744 7316-2758 BS_W4ZEEWZA G G c.253G>A p.Ala85Thr p.A85T ENST00000338844 4/6 77 50 26 24 23 1 TPSAB1,missense_variant,p.Ala92Thr,ENST00000461509,;TPSAB1,missense_variant,p.Ala85Thr,ENST00000338844,NM_003294.3;TPSAB1,splice_region_variant,,ENST00000561736,;TPSAB1,non_coding_transcript_exon_variant,,ENST00000562432,; A ENSG00000172236 ENST00000338844 Transcript missense_variant 286/1175 253/828 85/275 A/T Gcc/Acc rs201351744,COSM1478520 1 1 TPSAB1 HGNC HGNC:12019 protein_coding YES CCDS10431.1 ENSP00000343577 Q15661 UPI0000137302 NM_003294.3 tolerated(0.73) benign(0) 4/6 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF149,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.08839 0.03824 0.04415 0.06577 0.1097 0.1579 0.1019 0.07669 0.08683 1241453 NPIPB11 . GRCh38 chr16 29383148 29383148 + Missense_Mutation SNP C C G rs573087874 7316-2758 BS_W4ZEEWZA C C c.1784G>C p.Arg595Pro p.R595P ENST00000524087 8/8 58 47 10 41 36 0 NPIPB11,missense_variant,p.Arg595Pro,ENST00000524087,NM_001310137.1;NPIPB11,downstream_gene_variant,,ENST00000614927,;AC025279.3,downstream_gene_variant,,ENST00000622398,; G ENSG00000254206 ENST00000524087 Transcript missense_variant 1859/3653 1784/3486 595/1161 R/P cGg/cCg rs573087874 1 -1 NPIPB11 HGNC HGNC:37453 protein_coding YES ENSP00000430853 E5RHQ5 UPI0001E8F094 NM_001310137.1 deleterious_low_confidence(0.01) benign(0.003) 8/8 hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF5 0.0022 0.0083 MODERATE 1 SNV 5 PASS CCG . . 4.123e-06 9.111e-06 29383148 ACSF3 . GRCh38 chr16 89112086 89112086 + Splice_Region SNP T T C rs76096111 7316-2758 BS_W4ZEEWZA T T c.823-6T>C ENST00000614302 56 50 6 28 28 0 ACSF3,splice_region_variant,,ENST00000317447,;ACSF3,splice_region_variant,,ENST00000378345,NM_001284316.1;ACSF3,splice_region_variant,,ENST00000406948,;ACSF3,splice_region_variant,,ENST00000537895,;ACSF3,splice_region_variant,,ENST00000538340,;ACSF3,splice_region_variant,,ENST00000540697,;ACSF3,splice_region_variant,,ENST00000543676,;ACSF3,splice_region_variant,,ENST00000544543,;ACSF3,splice_region_variant,,ENST00000614302,NM_001127214.3,NM_001243279.2,NM_174917.4;AC135782.3,downstream_gene_variant,,ENST00000562782,;ACSF3,upstream_gene_variant,,ENST00000562204,;ACSF3,splice_region_variant,,ENST00000542688,; C ENSG00000176715 ENST00000614302 Transcript splice_region_variant,intron_variant rs76096111,COSM1609786 1 1 ACSF3 HGNC HGNC:27288 protein_coding YES CCDS10974.1 ENSP00000479130 Q4G176 UPI00001AF19E NM_001127214.3,NM_001243279.2,NM_174917.4 4/10 benign 0,1 LOW 1 SNV 5 0,1 1 PASS TTC . . 5.824e-06 0.000118 89112086 MBD2 . GRCh38 chr18 54224085 54224085 + Missense_Mutation SNP A A C novel 7316-2758 BS_W4ZEEWZA A A c.475T>G p.Trp159Gly p.W159G ENST00000256429 1/7 40 35 5 38 34 0 MBD2,missense_variant,p.Trp159Gly,ENST00000256429,NM_003927.4;MBD2,missense_variant,p.Trp159Gly,ENST00000398398,;MBD2,missense_variant,p.Trp159Gly,ENST00000583046,NM_015832.4;SNORA37,upstream_gene_variant,,ENST00000384504,;,regulatory_region_variant,,ENSR00000103437,; C ENSG00000134046 ENST00000256429 Transcript missense_variant 704/5188 475/1236 159/411 W/G Tgg/Ggg 1 -1 MBD2 HGNC HGNC:6917 protein_coding YES CCDS11953.1 ENSP00000256429 Q9UBB5 UPI000003166A NM_003927.4 deleterious(0) probably_damaging(0.999) 1/7 PROSITE_profiles:PS50982,cd01396,hmmpanther:PTHR12396:SF5,hmmpanther:PTHR12396,Gene3D:3.30.890.10,Pfam_domain:PF01429,SMART_domains:SM00391,Superfamily_domains:SSF54171 MODERATE 1 SNV 1 PASS CAT . . 54224085 SAMD1 . GRCh38 chr19 14090369 14090369 + Missense_Mutation SNP T T G novel 7316-2758 BS_W4ZEEWZA T T c.52A>C p.Thr18Pro p.T18P ENST00000533683 1/5 57 39 14 17 17 0 SAMD1,missense_variant,p.Thr18Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 340/2164 52/1299 18/432 T/P Acg/Ccg 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.063) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090369 SBSN . GRCh38 chr19 35527289 35527289 + Missense_Mutation SNP C C A 7316-2758 BS_W4ZEEWZA C C c.993G>T p.Arg331Ser p.R331S ENST00000452271 1/4 93 72 6 37 33 0 SBSN,missense_variant,p.Arg331Ser,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; A ENSG00000189001 ENST00000452271 Transcript missense_variant 1022/1945 993/1773 331/590 R/S agG/agT COSM5956591 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 deleterious(0.01) benign(0.039) 1/4 hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS ACC . . 35527289 ZNF534 . GRCh38 chr19 52439054 52439054 + Missense_Mutation SNP C C A 7316-2758 BS_W4ZEEWZA C C c.1633C>A p.Arg545Ser p.R545S ENST00000332323 4/4 91 81 9 40 38 0 ZNF534,missense_variant,p.Arg545Ser,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Arg532Ser,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1; A ENSG00000198633 ENST00000332323 Transcript missense_variant 1694/2086 1633/2025 545/674 R/S Cgt/Agt COSM6003996,COSM1481436,COSM1234220 1 1 ZNF534 HGNC HGNC:26337 protein_coding YES CCDS46165.1 ENSP00000327538 Q76KX8 UPI0000351984 NM_001143939.1 tolerated(1) benign(0.013) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF187,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1,1 MODERATE 1 SNV 1 1,1,1 PASS CCG . . 52439054 CST3 . GRCh38 chr20 23637849 23637849 + Missense_Mutation SNP A A C novel 7316-2758 BS_W4ZEEWZA A A c.14T>G p.Leu5Arg p.L5R ENST00000398411 1/4 113 95 10 31 30 0 CST3,missense_variant,p.Leu5Arg,ENST00000398411,NM_001288614.1;CST3,missense_variant,p.Leu5Arg,ENST00000376925,NM_000099.3;CST3,missense_variant,p.Leu5Arg,ENST00000398409,;,regulatory_region_variant,,ENSR00000135699,; C ENSG00000101439 ENST00000398411 Transcript missense_variant 97/3286 14/441 5/146 L/R cTg/cGg 1 -1 CST3 HGNC HGNC:2475 protein_coding YES CCDS13158.1 ENSP00000381448 P01034 A0A0K0K1J1 UPI000002B9AD NM_001288614.1 tolerated(0.05) benign(0.031) 1/4 hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF42,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAG . . 23637849 TUBGCP6 . GRCh38 chr22 50221042 50221042 + Missense_Mutation SNP A A G rs750362287 7316-2758 BS_W4ZEEWZA A A c.3317T>C p.Ile1106Thr p.I1106T ENST00000248846 16/25 116 87 6 34 31 0 TUBGCP6,missense_variant,p.Ile1106Thr,ENST00000439308,;TUBGCP6,missense_variant,p.Ile1106Thr,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; G ENSG00000128159 ENST00000248846 Transcript missense_variant 3422/5612 3317/5460 1106/1819 I/T aTc/aCc rs750362287 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 tolerated(0.08) benign(0.119) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 MODERATE 1 SNV 1 1 PASS GAT . . 50221042 TEX13C . GRCh38 chrX 125321899 125321899 + Missense_Mutation SNP A A C novel 7316-2758 BS_W4ZEEWZA A A c.1780A>C p.Met594Leu p.M594L ENST00000632600 1/1 38 26 6 12 12 0 TEX13C,missense_variant,p.Met594Leu,ENST00000632600,NM_001195272.1;AL627231.1,downstream_gene_variant,,ENST00000394467,; C ENSG00000282815 ENST00000632600 Transcript missense_variant 1780/5095 1780/2982 594/993 M/L Atg/Ctg 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.51) benign(0) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28 MODERATE 1 SNV PASS AAT . . 125321899 SLC2A7 . GRCh38 chr1 9026329 9026329 + Missense_Mutation SNP G G A rs150973958 7316-319 BS_79FBVAB7 G G c.17C>T p.Ala6Val p.A6V ENST00000400906 1/12 62 45 17 18 18 0 SLC2A7,missense_variant,p.Ala6Val,ENST00000400906,NM_207420.2; A ENSG00000197241 ENST00000400906 Transcript missense_variant 17/1539 17/1539 6/512 A/V gCg/gTg rs150973958 1 -1 SLC2A7 HGNC HGNC:13445 protein_coding YES CCDS98.2 ENSP00000383698 Q6PXP3 UPI00001A73A8 NM_207420.2 tolerated(0.28) benign(0) 1/12 0.0024 0.0083 0.0014 0.006582 MODERATE 1 SNV 1 PASS CGC . . 0.000489 0.006479 0.0004263 4.657e-05 0.000103 9026329 C1orf61 . GRCh38 chr1 156416833 156416834 + In_Frame_Ins INS - - GAACATGCCAGA novel 7316-319 BS_79FBVAB7 - - c.-6_6dup p.Phe2_Leu3insSerGlyMetPhe p.F2_L3insSGMF ENST00000368243 3/7 73 55 8 30 27 0 C1orf61,inframe_insertion,p.Phe2_Leu3insSerGlyMetPhe,ENST00000368243,NM_001320453.1,NM_006365.2;C1orf61,inframe_insertion,p.Phe2_Leu3insSerGlyMetPhe,ENST00000615748,;C1orf61,intron_variant,,ENST00000310027,;C1orf61,intron_variant,,ENST00000357975,;C1orf61,intron_variant,,ENST00000368242,;C1orf61,intron_variant,,ENST00000400991,;MIR9-1,downstream_gene_variant,,ENST00000385198,;C1orf61,non_coding_transcript_exon_variant,,ENST00000462458,;C1orf61,non_coding_transcript_exon_variant,,ENST00000464203,;C1orf61,intron_variant,,ENST00000463309,;C1orf61,intron_variant,,ENST00000465270,;C1orf61,intron_variant,,ENST00000471156,;C1orf61,intron_variant,,ENST00000476966,;C1orf61,intron_variant,,ENST00000482932,;C1orf61,intron_variant,,ENST00000484428,;C1orf61,intron_variant,,ENST00000486517,NM_001320455.1;C1orf61,intron_variant,,ENST00000489877,;C1orf61,intron_variant,,ENST00000489918,;C1orf61,intron_variant,,ENST00000492750,;C1orf61,intron_variant,,ENST00000497822,;C1orf61,intron_variant,,ENST00000497824,;C1orf61,upstream_gene_variant,,ENST00000464238,;C1orf61,upstream_gene_variant,,ENST00000465570,;C1orf61,non_coding_transcript_exon_variant,,ENST00000608007,; GAACATGCCAGA ENSG00000125462 ENST00000368243 Transcript inframe_insertion 123-124/879 6-7/471 2-3/156 -/SGMF -/TCTGGCATGTTC 1 -1 C1orf61 HGNC HGNC:30780 protein_coding YES CCDS1142.1 ENSP00000357226 Q13536 UPI000006E362 NM_001320453.1,NM_006365.2 3/7 MODERATE 1 insertion 1 PASS AGG . . 156416833 UBXN2A . GRCh38 chr2 23999706 23999706 + Nonsense_Mutation SNP C C T novel 7316-319 BS_79FBVAB7 C C c.619C>T p.Gln207Ter p.Q207* ENST00000309033 7/7 78 52 26 32 32 0 UBXN2A,stop_gained,p.Gln207Ter,ENST00000309033,NM_181713.3;UBXN2A,stop_gained,p.Gln207Ter,ENST00000404924,;RN7SL610P,upstream_gene_variant,,ENST00000463845,;UBXN2A,non_coding_transcript_exon_variant,,ENST00000446425,; T ENSG00000173960 ENST00000309033 Transcript stop_gained 863/6066 619/780 207/259 Q/* Caa/Taa 1 1 UBXN2A HGNC HGNC:27265 protein_coding YES CCDS1704.1 ENSP00000312107 P68543 UPI00001616AE NM_181713.3 7/7 Gene3D:3.10.20.90,Pfam_domain:PF00789,PROSITE_profiles:PS50033,hmmpanther:PTHR23333,hmmpanther:PTHR23333:SF16,SMART_domains:SM00166,Superfamily_domains:SSF54236,cd01770 HIGH 1 SNV 1 PASS CCA . . 23999706 IDH1 . GRCh38 chr2 208248388 208248388 + Missense_Mutation SNP C C T rs121913500 7316-319 BS_79FBVAB7 C C c.395G>A p.Arg132His p.R132H ENST00000415913 4/10 83 58 24 22 21 0 IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.3;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,; T ENSG00000138413 ENST00000415913 Transcript missense_variant 777/2441 395/1245 132/414 R/H cGt/cAt rs121913500,CM1310533,COSM28750,COSM28746 1 -1 IDH1 HGNC HGNC:5382 protein_coding YES CCDS2381.1 ENSP00000390265 O75874 V9HWJ2 UPI000012D1B4 NM_001282387.1 deleterious_low_confidence(0.01) benign(0.047) 4/10 PDB-ENSP_mappings:1t09.A,PDB-ENSP_mappings:1t09.B,PDB-ENSP_mappings:1t0l.A,PDB-ENSP_mappings:1t0l.B,PDB-ENSP_mappings:1t0l.C,PDB-ENSP_mappings:1t0l.D,Gene3D:3.40.718.10,PDB-ENSP_mappings:3inm.A,PDB-ENSP_mappings:3inm.B,PDB-ENSP_mappings:3inm.C,PDB-ENSP_mappings:3map.A,PDB-ENSP_mappings:3map.B,PDB-ENSP_mappings:3mar.A,PDB-ENSP_mappings:3mar.B,PDB-ENSP_mappings:3mas.A,PDB-ENSP_mappings:3mas.B,PDB-ENSP_mappings:4i3k.A,PDB-ENSP_mappings:4i3k.B,PDB-ENSP_mappings:4i3l.A,PDB-ENSP_mappings:4i3l.B,PDB-ENSP_mappings:4kzo.A,PDB-ENSP_mappings:4kzo.B,PDB-ENSP_mappings:4kzo.C,PDB-ENSP_mappings:4l03.A,PDB-ENSP_mappings:4l03.B,PDB-ENSP_mappings:4l03.C,PDB-ENSP_mappings:4l04.A,PDB-ENSP_mappings:4l04.B,PDB-ENSP_mappings:4l04.C,PDB-ENSP_mappings:4l04.D,PDB-ENSP_mappings:4l04.E,PDB-ENSP_mappings:4l04.F,PDB-ENSP_mappings:4l06.A,PDB-ENSP_mappings:4l06.B,PDB-ENSP_mappings:4l06.C,PDB-ENSP_mappings:4l06.D,PDB-ENSP_mappings:4l06.E,PDB-ENSP_mappings:4l06.F,PDB-ENSP_mappings:4umx.A,PDB-ENSP_mappings:4umx.B,PDB-ENSP_mappings:4umy.A,PDB-ENSP_mappings:4umy.B,PDB-ENSP_mappings:4xrx.A,PDB-ENSP_mappings:4xrx.B,PDB-ENSP_mappings:4xs3.A,PDB-ENSP_mappings:4xs3.B,PDB-ENSP_mappings:5de1.A,PDB-ENSP_mappings:5de1.B,PDB-ENSP_mappings:5gir.C,PDB-ENSP_mappings:5gir.D,PDB-ENSP_mappings:5k10.A,PDB-ENSP_mappings:5k10.B,PDB-ENSP_mappings:5k11.A,PDB-ENSP_mappings:5k11.B,PDB-ENSP_mappings:5l57.A,PDB-ENSP_mappings:5l58.A,PDB-ENSP_mappings:5lge.A,PDB-ENSP_mappings:5lge.B,PDB-ENSP_mappings:5lge.C,PDB-ENSP_mappings:5lge.D,PDB-ENSP_mappings:5sun.A,PDB-ENSP_mappings:5sun.B,PDB-ENSP_mappings:5svf.A,PDB-ENSP_mappings:5svf.B,PDB-ENSP_mappings:5svf.C,PDB-ENSP_mappings:5svf.D,PDB-ENSP_mappings:5tqh.A,PDB-ENSP_mappings:5tqh.B,PDB-ENSP_mappings:5tqh.C,PDB-ENSP_mappings:5tqh.D,PDB-ENSP_mappings:5yfm.A,PDB-ENSP_mappings:5yfm.B,PDB-ENSP_mappings:5yfm.C,PDB-ENSP_mappings:5yfn.A,PDB-ENSP_mappings:5yfn.B,PDB-ENSP_mappings:6b0z.A,PDB-ENSP_mappings:6b0z.B,PDB-ENSP_mappings:6b0z.C,PDB-ENSP_mappings:6b0z.D,Pfam_domain:PF00180,PIRSF_domain:PIRSF000108,hmmpanther:PTHR11822,hmmpanther:PTHR11822:SF21,SMART_domains:SM01329,Superfamily_domains:SSF53659,TIGRFAM_domain:TIGR00127 not_provided,likely_pathogenic,pathogenic 0,0,1,1 18772396,21446021,25043048 MODERATE 1 SNV 1 1,1,1,1 1 PASS ACG . . 208248388 VILL . GRCh38 chr3 37997607 37997607 + Missense_Mutation SNP G G A rs765249257 7316-319 BS_79FBVAB7 G G c.686G>A p.Arg229His p.R229H ENST00000283713 7/20 76 59 16 24 21 0 VILL,missense_variant,p.Arg229His,ENST00000283713,;VILL,missense_variant,p.Arg229His,ENST00000383759,NM_015873.3;VILL,intron_variant,,ENST00000465644,;VILL,downstream_gene_variant,,ENST00000416303,;VILL,downstream_gene_variant,,ENST00000492491,;VILL,non_coding_transcript_exon_variant,,ENST00000484717,;VILL,upstream_gene_variant,,ENST00000412008,;VILL,downstream_gene_variant,,ENST00000460040,;VILL,upstream_gene_variant,,ENST00000463080,;VILL,upstream_gene_variant,,ENST00000486616,; A ENSG00000136059 ENST00000283713 Transcript missense_variant 952/2970 686/2571 229/856 R/H cGc/cAc rs765249257 1 1 VILL HGNC HGNC:30906 protein_coding YES CCDS2670.2 ENSP00000283713 O15195 UPI000022BFB0 tolerated(0.11) benign(0.03) 7/20 hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF30,Superfamily_domains:SSF82754 MODERATE 1 SNV 1 PASS CGC . . 2.449e-05 8.937e-05 2.702e-05 37997607 GAK . GRCh38 chr4 904641 904641 + Missense_Mutation SNP A A T rs185238939 7316-319 BS_79FBVAB7 A A c.521T>A p.Leu174His p.L174H ENST00000314167 5/28 97 82 14 34 33 0 GAK,missense_variant,p.Leu174His,ENST00000314167,NM_005255.3;GAK,missense_variant,p.Leu95His,ENST00000511163,NM_001318134.1;GAK,intron_variant,,ENST00000502656,;GAK,intron_variant,,ENST00000618573,;GAK,downstream_gene_variant,,ENST00000511229,;GAK,downstream_gene_variant,,ENST00000510022,;GAK,3_prime_UTR_variant,,ENST00000505819,;GAK,3_prime_UTR_variant,,ENST00000512325,;GAK,non_coding_transcript_exon_variant,,ENST00000507991,;GAK,intron_variant,,ENST00000507580,; T ENSG00000178950 ENST00000314167 Transcript missense_variant 632/4442 521/3936 174/1311 L/H cTc/cAc rs185238939,COSM6205902 1 -1 GAK HGNC HGNC:4113 protein_coding YES CCDS3340.1 ENSP00000314499 O14976 UPI000012B04A NM_005255.3 deleterious(0) probably_damaging(0.998) 5/28 PROSITE_profiles:PS50011,cd14036,hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF34,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 3.535e-05 6.844e-05 6.488e-05 0.0001248 4.713e-05 1.934e-05 904641 PRDM8 . GRCh38 chr4 80202201 80202201 + Missense_Mutation SNP T T G novel 7316-319 BS_79FBVAB7 T T c.739T>G p.Ser247Ala p.S247A ENST00000339711 10/10 54 43 6 20 16 0 PRDM8,missense_variant,p.Ser247Ala,ENST00000339711,NM_020226.3;PRDM8,missense_variant,p.Ser247Ala,ENST00000504452,;PRDM8,missense_variant,p.Ser247Ala,ENST00000415738,NM_001099403.1;PRDM8,missense_variant,p.Ser247Ala,ENST00000515013,;,regulatory_region_variant,,ENSR00000169856,; G ENSG00000152784 ENST00000339711 Transcript missense_variant 1970/4095 739/2070 247/689 S/A Tcc/Gcc 1 1 PRDM8 HGNC HGNC:13993 protein_coding YES CCDS43243.1 ENSP00000339764 Q9NQV8 A0A024RDC4 UPI0000422A1D NM_020226.3 tolerated_low_confidence(0.54) benign(0) 10/10 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF7,Gene3D:3.30.160.60 MODERATE 1 SNV 1 1 PASS ATC . . 80202201 DSPP . GRCh38 chr4 87614663 87614665 + In_Frame_Del DEL TAG TAG - rs745344342 7316-319 BS_79FBVAB7 TAG TAG c.2005_2007del p.Ser669del p.S669del ENST00000399271 5/5 80 43 24 38 31 0 DSPP,inframe_deletion,p.Ser669del,ENST00000399271,NM_014208.3;DSPP,inframe_deletion,p.Ser669del,ENST00000282478,;AC093895.1,intron_variant,,ENST00000506480,; - ENSG00000152591 ENST00000399271 Transcript inframe_deletion 2121-2123/4331 2001-2003/3906 667-668/1301 DS/D gaTAGt/gat rs745344342 1 1 DSPP HGNC HGNC:3054 protein_coding YES CCDS43248.1 ENSP00000382213 Q9NZW4 UPI00006BFF57 NM_014208.3 5/5 Low_complexity_(Seg):seg,mobidb-lite 0.000913 0.004846 MODERATE deletion 5 4 1 PASS GATAGT . . 3.431e-05 4.194e-05 7.371e-05 87614662 FREM3 . GRCh38 chr4 143697380 143697380 + Missense_Mutation SNP T T C novel 7316-319 BS_79FBVAB7 T T c.3296A>G p.Asp1099Gly p.D1099G ENST00000329798 1/8 80 51 29 31 31 0 FREM3,missense_variant,p.Asp1099Gly,ENST00000329798,NM_001168235.1;AC139713.2,intron_variant,,ENST00000641328,;AC139713.2,upstream_gene_variant,,ENST00000499587,;AC139713.2,upstream_gene_variant,,ENST00000641556,; C ENSG00000183090 ENST00000329798 Transcript missense_variant 3296/6729 3296/6420 1099/2139 D/G gAc/gGc 1 -1 FREM3 HGNC HGNC:25172 protein_coding YES CCDS54808.1 ENSP00000332886 P0C091 UPI0000D615C2 NM_001168235.1 deleterious(0) probably_damaging(1) 1/8 Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31 MODERATE 1 SNV 5 PASS GTC . . 143697380 FTMT . GRCh38 chr5 121852224 121852224 + Missense_Mutation SNP G G T novel 7316-319 BS_79FBVAB7 G G c.261G>T p.Glu87Asp p.E87D ENST00000321339 1/1 83 78 5 28 26 0 FTMT,missense_variant,p.Glu87Asp,ENST00000321339,NM_177478.1; T ENSG00000181867 ENST00000321339 Transcript missense_variant 270/879 261/729 87/242 E/D gaG/gaT 1 1 FTMT HGNC HGNC:17345 protein_coding YES CCDS4128.1 ENSP00000313691 Q8N4E7 UPI000006F87E NM_177478.1 deleterious(0.02) possibly_damaging(0.572) 1/1 PDB-ENSP_mappings:1r03.A,PROSITE_profiles:PS50905,cd01056,hmmpanther:PTHR11431:SF30,hmmpanther:PTHR11431,Pfam_domain:PF00210,Gene3D:1.20.1260.10,Superfamily_domains:SSF47240 MODERATE 1 SNV PASS AGC . . 121852224 INTS10 . GRCh38 chr8 19842884 19842884 + Missense_Mutation SNP C C T novel 7316-319 BS_79FBVAB7 C C c.1676C>T p.Ala559Val p.A559V ENST00000397977 14/17 98 68 27 26 22 0 INTS10,missense_variant,p.Ala559Val,ENST00000397977,NM_018142.2,NM_001353510.1;INTS10,missense_variant,p.Ala49Val,ENST00000520670,;INTS10,intron_variant,,ENST00000518799,;INTS10,upstream_gene_variant,,ENST00000523772,;INTS10,3_prime_UTR_variant,,ENST00000521357,;INTS10,3_prime_UTR_variant,,ENST00000521008,;INTS10,upstream_gene_variant,,ENST00000520827,;INTS10,upstream_gene_variant,,ENST00000607660,; T ENSG00000104613 ENST00000397977 Transcript missense_variant 2074/2804 1676/2133 559/710 A/V gCt/gTt 1 1 INTS10 HGNC HGNC:25548 protein_coding YES CCDS6011.2 ENSP00000381064 Q9NVR2 UPI0000210A61 NM_018142.2,NM_001353510.1 tolerated(0.17) benign(0.12) 14/17 hmmpanther:PTHR16055 MODERATE 1 SNV 2 PASS GCT . . 19842884 ZC2HC1A . GRCh38 chr8 78715333 78715333 + Splice_Region SNP G G T novel 7316-319 BS_79FBVAB7 G G c.812+5G>T ENST00000263849 61 41 20 34 34 0 ZC2HC1A,splice_region_variant,,ENST00000263849,NM_016010.2;ZC2HC1A,splice_region_variant,,ENST00000519307,;IL7,intron_variant,,ENST00000523959,;IL7,downstream_gene_variant,,ENST00000519833,; T ENSG00000104427 ENST00000263849 Transcript splice_region_variant,intron_variant 1 1 ZC2HC1A HGNC HGNC:24277 protein_coding YES CCDS6223.1 ENSP00000263849 Q96GY0 UPI000013D475 NM_016010.2 8/8 LOW 1 SNV 1 PASS TGT . . 78715333 MROH6 . GRCh38 chr8 143569806 143569806 + Missense_Mutation SNP C C T novel 7316-319 BS_79FBVAB7 C C c.1193G>A p.Arg398Gln p.R398Q ENST00000398882 8/14 141 117 23 40 40 0 MROH6,missense_variant,p.Arg398Gln,ENST00000398882,NM_001100878.1;MROH6,synonymous_variant,p.Ala410=,ENST00000529971,;NAPRT,downstream_gene_variant,,ENST00000426292,NM_001286829.1;NAPRT,downstream_gene_variant,,ENST00000435154,;NAPRT,downstream_gene_variant,,ENST00000449291,NM_145201.5;MROH6,upstream_gene_variant,,ENST00000524906,;MROH6,upstream_gene_variant,,ENST00000532862,;MROH6,upstream_gene_variant,,ENST00000533679,;MROH6,upstream_gene_variant,,ENST00000534459,;AC067930.5,upstream_gene_variant,,ENST00000531730,;MROH6,upstream_gene_variant,,ENST00000532704,;MROH6,upstream_gene_variant,,ENST00000533582,;NAPRT,downstream_gene_variant,,ENST00000340490,;NAPRT,downstream_gene_variant,,ENST00000460623,;NAPRT,downstream_gene_variant,,ENST00000464332,;NAPRT,downstream_gene_variant,,ENST00000498076,;NAPRT,downstream_gene_variant,,ENST00000529179,;MROH6,upstream_gene_variant,,ENST00000533083,;MROH6,upstream_gene_variant,,ENST00000533120,;MROH6,upstream_gene_variant,,ENST00000533210,; T ENSG00000204839 ENST00000398882 Transcript missense_variant 1450/3469 1193/2160 398/719 R/Q cGg/cAg 1 -1 MROH6 HGNC HGNC:27814 protein_coding YES CCDS47928.1 ENSP00000381857 A6NGR9 UPI0000DD7EFB NM_001100878.1 tolerated(0.3) benign(0.027) 8/14 Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF40,Superfamily_domains:SSF48371,Low_complexity_(Seg):seg MODERATE SNV 5 PASS CCG . . 143569806 TIGD5 . GRCh38 chr8 143598613 143598613 + Missense_Mutation SNP A A C novel 7316-319 BS_79FBVAB7 A A c.710A>C p.Tyr237Ser p.Y237S ENST00000504548 1/1 105 77 10 18 16 0 TIGD5,missense_variant,p.Tyr237Ser,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; C ENSG00000179886 ENST00000504548 Transcript missense_variant 779/5390 710/1929 237/642 Y/S tAc/tCc 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 deleterious(0) probably_damaging(0.997) 1/1 hmmpanther:PTHR45428 MODERATE SNV PASS TAC . . 143598613 EHMT1 . GRCh38 chr9 137778016 137778016 + Missense_Mutation SNP A A C novel 7316-319 BS_79FBVAB7 A A c.2153A>C p.Glu718Ala p.E718A ENST00000460843 13/27 91 58 32 20 20 0 EHMT1,missense_variant,p.Glu718Ala,ENST00000460843,NM_024757.4,NM_001354263.1;EHMT1,missense_variant,p.Glu687Ala,ENST00000637161,;EHMT1,missense_variant,p.Glu680Ala,ENST00000636027,;EHMT1,missense_variant,p.Glu718Ala,ENST00000462484,NM_001145527.1;EHMT1,downstream_gene_variant,,ENST00000465566,;EHMT1,downstream_gene_variant,,ENST00000640639,;AL590627.1,intron_variant,,ENST00000626603,;EHMT1,missense_variant,p.Glu337Ala,ENST00000462942,;EHMT1,missense_variant,p.Glu16Ala,ENST00000637891,;EHMT1,3_prime_UTR_variant,,ENST00000637261,;EHMT1,3_prime_UTR_variant,,ENST00000371394,;EHMT1,upstream_gene_variant,,ENST00000637949,;EHMT1,downstream_gene_variant,,ENST00000638071,; C ENSG00000181090 ENST00000460843 Transcript missense_variant 2219/5137 2153/3897 718/1298 E/A gAa/gCa 1 1 EHMT1 HGNC HGNC:24650 protein_coding YES CCDS7050.2 ENSP00000417980 Q9H9B1 UPI000194EC2D NM_024757.4,NM_001354263.1 tolerated(0.07) benign(0.348) 13/27 Gene3D:1.25.40.20,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF364 MODERATE 1 SNV 5 1 PASS GAA . . 137778016 GPR158 . GRCh38 chr10 25176305 25176305 + Missense_Mutation SNP C C A novel 7316-319 BS_79FBVAB7 C C c.885C>A p.Asn295Lys p.N295K ENST00000376351 1/11 129 86 36 39 38 0 GPR158,missense_variant,p.Asn295Lys,ENST00000376351,NM_020752.2;GPR158-AS1,upstream_gene_variant,,ENST00000449643,; A ENSG00000151025 ENST00000376351 Transcript missense_variant 1244/6959 885/3648 295/1215 N/K aaC/aaA 1 1 GPR158 HGNC HGNC:23689 protein_coding YES CCDS31166.1 ENSP00000365529 Q5T848 UPI0000199875 NM_020752.2 deleterious(0.04) benign(0.17) 1/11 hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Gene3D:3.30.450.20 MODERATE 1 SNV 1 PASS ACC . . 25176305 LRIT1 . GRCh38 chr10 84241399 84241399 + Missense_Mutation SNP G G A rs773093905 7316-319 BS_79FBVAB7 G G c.41C>T p.Ala14Val p.A14V ENST00000372105 1/4 104 97 5 37 37 0 LRIT1,missense_variant,p.Ala14Val,ENST00000372105,NM_015613.2;RGR,upstream_gene_variant,,ENST00000358110,NM_001012722.1;RGR,upstream_gene_variant,,ENST00000359452,NM_001012720.1,NM_002921.3;RGR,upstream_gene_variant,,ENST00000372092,;RGR,upstream_gene_variant,,ENST00000469446,;RGR,upstream_gene_variant,,ENST00000478727,;RGR,upstream_gene_variant,,ENST00000483660,;RGR,upstream_gene_variant,,ENST00000483771,; A ENSG00000148602 ENST00000372105 Transcript missense_variant 63/2228 41/1872 14/623 A/V gCg/gTg rs773093905 1 -1 LRIT1 HGNC HGNC:23404 protein_coding YES CCDS7373.1 ENSP00000361177 Q9P2V4 UPI000006F66C NM_015613.2 tolerated(0.41) benign(0) 1/4 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR44569,hmmpanther:PTHR44569:SF1 MODERATE 1 SNV 1 PASS CGC . . 2.53e-05 6.091e-05 5.953e-05 2.817e-05 84241399 IGF2 . GRCh38 chr11 2147784 2147784 + Missense_Mutation SNP A G G rs10770125 7316-319 BS_79FBVAB7 A A c.278T>C p.Leu93Pro p.L93P ENST00000643349 2/5 58 12 46 20 17 3 IGF2,missense_variant,p.Leu93Pro,ENST00000643349,NM_001007139.5;INS-IGF2,missense_variant,p.Leu144Pro,ENST00000397270,NM_001042376.2;IGF2,5_prime_UTR_variant,,ENST00000641326,;IGF2-AS,non_coding_transcript_exon_variant,,ENST00000381361,;IGF2-AS,non_coding_transcript_exon_variant,,ENST00000445504,;IGF2-AS,non_coding_transcript_exon_variant,,ENST00000381363,;IGF2,non_coding_transcript_exon_variant,,ENST00000481781,;INS-IGF2,missense_variant,p.Leu144Pro,ENST00000356578,;IGF2,downstream_gene_variant,,ENST00000476874,; G ENSG00000284779 ENST00000643349 Transcript missense_variant 502/5144 278/450 93/149 L/P cTt/cCt rs10770125,COSM6309728 1 -1 IGF2 EntrezGene HGNC:5466 protein_coding YES ENSP00000495715 UPI000D197C35 NM_001007139.5 deleterious_low_confidence(0) benign(0.166) 2/5 hmmpanther:PTHR11454:SF9,hmmpanther:PTHR11454 0.3478 0.1233 0.5778 0.3958 0.4563 0.3272 0.167 0.4305 0,1 21926269,18769151,20093482,16750516,28392167 MODERATE SNV 0,1 1 PASS AAG . . 0.4904 0.1689 0.5772 0.4947 0.4016 0.5824 0.4718 0.456 0.3102 2147784 PDZRN4 . GRCh38 chr12 41188456 41188456 + Translation_Start_Site SNP A A C novel 7316-319 BS_79FBVAB7 A A c.1A>C p.Met1? p.M1? ENST00000402685 1/10 100 91 7 23 22 0 PDZRN4,start_lost,p.Met1?,ENST00000402685,NM_001164595.1;,regulatory_region_variant,,ENSR00000050874,; C ENSG00000165966 ENST00000402685 Transcript start_lost 9/3347 1/3111 1/1036 M/L Atg/Ctg 1 1 PDZRN4 HGNC HGNC:30552 protein_coding YES CCDS53777.1 ENSP00000384197 Q6ZMN7 UPI0000D621D0 NM_001164595.1 deleterious_low_confidence(0) unknown(0) 1/10 HIGH 1 SNV 2 PASS CAT . . 41188456 FAM186A . GRCh38 chr12 50352973 50352973 + Missense_Mutation SNP A A C 7316-319 BS_79FBVAB7 A A c.3859T>G p.Leu1287Val p.L1287V ENST00000327337 4/8 52 39 8 20 20 0 FAM186A,missense_variant,p.Leu1287Val,ENST00000543111,;FAM186A,missense_variant,p.Leu1287Val,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; C ENSG00000185958 ENST00000327337 Transcript missense_variant 3859/7127 3859/7056 1287/2351 L/V Ttg/Gtg COSM5468725 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.33) possibly_damaging(0.879) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 1 MODERATE 1 SNV 5 1 PASS AAT . . 50352973 PABPC3 . GRCh38 chr13 25096815 25096815 + Missense_Mutation SNP G G A rs74040928 7316-319 BS_79FBVAB7 G G c.617G>A p.Arg206His p.R206H ENST00000281589 1/1 106 67 34 37 33 1 PABPC3,missense_variant,p.Arg206His,ENST00000281589,NM_030979.2; A ENSG00000151846 ENST00000281589 Transcript missense_variant 948/3387 617/1896 206/631 R/H cGc/cAc rs74040928,COSM4591481 1 1 PABPC3 HGNC HGNC:8556 protein_coding YES CCDS9311.1 ENSP00000281589 Q9H361 Q5VX58 UPI00001311AB NM_030979.2 tolerated(0.24) benign(0.043) 1/1 Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628,cd12380 0.0092 0.0234 0.0101 0.001 0.002 0.0051 0,1 MODERATE 1 SNV 0,1 PASS CGC . . 0.0008964 0.01196 0.0004809 0.0001177 0.0007386 0.0001661 25096815 SLITRK6 . GRCh38 chr13 85795859 85795859 + Missense_Mutation SNP T T C rs1369480907 7316-319 BS_79FBVAB7 T T c.650A>G p.Asp217Gly p.D217G ENST00000400286 2/2 75 50 25 31 31 0 SLITRK6,missense_variant,p.Asp217Gly,ENST00000400286,;SLITRK6,missense_variant,p.Asp217Gly,ENST00000647374,NM_032229.2;SLITRK6,missense_variant,p.Asp217Gly,ENST00000643778,;SLITRK6,downstream_gene_variant,,ENST00000645642,; C ENSG00000184564 ENST00000400286 Transcript missense_variant 1249/4321 650/2526 217/841 D/G gAc/gGc rs1369480907 1 -1 SLITRK6 HGNC HGNC:23503 protein_coding YES CCDS41903.1 ENSP00000383143 Q9H5Y7 UPI000004C9D6 deleterious(0) probably_damaging(0.96) 2/2 Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF5,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 1 PASS GTC . . 85795859 OR6S1 . GRCh38 chr14 20641353 20641353 + Missense_Mutation SNP C C A novel 7316-319 BS_79FBVAB7 C C c.339G>T p.Glu113Asp p.E113D ENST00000320704 1/1 89 67 22 34 34 0 OR6S1,missense_variant,p.Glu113Asp,ENST00000320704,NM_001001968.1; A ENSG00000181803 ENST00000320704 Transcript missense_variant 339/996 339/996 113/331 E/D gaG/gaT 1 -1 OR6S1 HGNC HGNC:15363 protein_coding YES CCDS32038.1 ENSP00000313110 Q8NH40 UPI000003FE0D NM_001001968.1 tolerated(0.14) benign(0.011) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15912 MODERATE 1 SNV PASS ACT . . 20641353 ZNF280D . GRCh38 chr15 56654505 56654506 + Splice_Region INS - - A rs750524613 7316-319 BS_79FBVAB7 - - c.2058-3dup ENST00000267807 75 60 9 23 19 0 ZNF280D,splice_region_variant,,ENST00000267807,NM_017661.3,NM_001288588.1;AC090517.4,splice_region_variant,,ENST00000559000,;ZNF280D,splice_region_variant,,ENST00000559237,NM_001002843.2;ZNF280D,splice_region_variant,,ENST00000558067,;ZNF280D,splice_region_variant,,ENST00000560002,; A ENSG00000137871 ENST00000267807 Transcript splice_region_variant,intron_variant rs750524613 1 -1 ZNF280D HGNC HGNC:25953 protein_coding YES CCDS32245.1 ENSP00000267807 Q6N043 UPI00003FF962 NM_017661.3,NM_001288588.1 17/21 LOW 1 insertion 1 PASS CTA . . 0.019 0.01346 0.02968 0.04005 0.02093 0.009473 0.0152 0.02282 0.03629 56654505 KIAA0753 . GRCh38 chr17 6610154 6610154 + Missense_Mutation SNP G G A rs370311617 7316-319 BS_79FBVAB7 G G c.1552C>T p.Arg518Cys p.R518C ENST00000361413 9/19 75 68 7 35 34 0 KIAA0753,missense_variant,p.Arg518Cys,ENST00000361413,NM_014804.2;KIAA0753,missense_variant,p.Arg219Cys,ENST00000572370,;KIAA0753,upstream_gene_variant,,ENST00000575027,;KIAA0753,missense_variant,p.Pro43Leu,ENST00000542826,;KIAA0753,3_prime_UTR_variant,,ENST00000570790,;,regulatory_region_variant,,ENSR00000090737,; A ENSG00000198920 ENST00000361413 Transcript missense_variant 1911/4859 1552/2904 518/967 R/C Cgc/Tgc rs370311617,COSM170644 1 -1 KIAA0753 HGNC HGNC:29110 protein_coding YES CCDS42247.1 ENSP00000355250 Q2KHM9 UPI000013D2BF NM_014804.2 tolerated(0.18) benign(0.319) 9/19 Pfam_domain:PF15718,hmmpanther:PTHR15732,mobidb-lite 0.0001213 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGG . . 8.939e-05 6.543e-05 0.0006959 8.062e-05 6610154 TP53 . GRCh38 chr17 7676162 7676168 + Frame_Shift_Del DEL AGCCTCT AGCCTCT - novel 7316-319 BS_79FBVAB7 AGCCTCT AGCCTCT c.201_207del p.Glu68LeufsTer53 p.E68Lfs*53 ENST00000269305 4/11 86 25 57 28 28 0 TP53,frameshift_variant,p.Glu68LeufsTer53,ENST00000617185,NM_001126114.2;TP53,frameshift_variant,p.Glu68LeufsTer53,ENST00000420246,;TP53,frameshift_variant,p.Glu29LeufsTer53,ENST00000622645,NM_001276696.1;TP53,frameshift_variant,p.Glu29LeufsTer53,ENST00000610292,NM_001126118.1;TP53,frameshift_variant,p.Glu68LeufsTer53,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Glu29LeufsTer53,ENST00000610538,;TP53,frameshift_variant,p.Glu68LeufsTer53,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,frameshift_variant,p.Glu29LeufsTer53,ENST00000620739,;TP53,frameshift_variant,p.Glu68LeufsTer53,ENST00000445888,;TP53,frameshift_variant,p.Glu29LeufsTer53,ENST00000619485,;TP53,frameshift_variant,p.Glu68LeufsTer53,ENST00000359597,;TP53,frameshift_variant,p.Glu68LeufsTer89,ENST00000615910,;TP53,frameshift_variant,p.Glu68LeufsTer53,ENST00000413465,;TP53,frameshift_variant,p.Glu68LeufsTer53,ENST00000508793,;TP53,frameshift_variant,p.Glu68LeufsTer53,ENST00000604348,;TP53,frameshift_variant,p.Glu68LeufsTer53,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,upstream_gene_variant,,ENST00000618944,;TP53,upstream_gene_variant,,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,upstream_gene_variant,,ENST00000574684,;TP53,frameshift_variant,p.Glu29LeufsTer53,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,; - ENSG00000141510 ENST00000269305 Transcript frameshift_variant 391-397/2579 201-207/1182 67-69/393 PEA/X ccAGAGGCT/cc 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 4/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447 HIGH 1 deletion 1 1 PASS GCAGCCTCTG . . 7676161 TP53 . GRCh38 chr17 7676170 7676170 + Missense_Mutation SNP G C C 7316-319 BS_79FBVAB7 G G c.199C>G p.Pro67Ala p.P67A ENST00000269305 4/11 82 21 58 27 27 0 TP53,missense_variant,p.Pro67Ala,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Pro67Ala,ENST00000420246,;TP53,missense_variant,p.Pro28Ala,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Pro28Ala,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Pro67Ala,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Pro28Ala,ENST00000610538,;TP53,missense_variant,p.Pro67Ala,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,missense_variant,p.Pro28Ala,ENST00000620739,;TP53,missense_variant,p.Pro67Ala,ENST00000445888,;TP53,missense_variant,p.Pro28Ala,ENST00000619485,;TP53,missense_variant,p.Pro67Ala,ENST00000359597,;TP53,missense_variant,p.Pro67Ala,ENST00000615910,;TP53,missense_variant,p.Pro67Ala,ENST00000413465,;TP53,missense_variant,p.Pro67Ala,ENST00000508793,;TP53,missense_variant,p.Pro67Ala,ENST00000604348,;TP53,missense_variant,p.Pro67Ala,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;TP53,upstream_gene_variant,,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,upstream_gene_variant,,ENST00000618944,;TP53,upstream_gene_variant,,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Pro28Ala,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,; C ENSG00000141510 ENST00000269305 Transcript missense_variant 389/2579 199/1182 67/393 P/A Cca/Gca COSM46345,COSM44199 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 tolerated(0.72) benign(0.001) 4/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447 1,1 MODERATE 1 SNV 1 1,1 1 PASS GGC . . 7676170 KRTAP4-12 . GRCh38 chr17 41123955 41123955 + Nonsense_Mutation SNP A A T 7316-319 BS_79FBVAB7 A A c.168T>A p.Cys56Ter p.C56* ENST00000394014 1/1 75 57 6 22 22 0 KRTAP4-12,stop_gained,p.Cys56Ter,ENST00000394014,NM_031854.2;,regulatory_region_variant,,ENSR00000094198,; T ENSG00000213416 ENST00000394014 Transcript stop_gained 213/1077 168/606 56/201 C/* tgT/tgA COSM5459550 1 -1 KRTAP4-12 HGNC HGNC:16776 protein_coding YES CCDS32649.1 ENSP00000377582 Q9BQ66 UPI0000072F19 NM_031854.2 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF37,hmmpanther:PTHR23262:SF37,Low_complexity_(Seg):seg 1 HIGH 1 SNV 1 PASS GAC . . 41123955 CASKIN2 . GRCh38 chr17 75502454 75502454 + Missense_Mutation SNP T T G rs1287196975 7316-319 BS_79FBVAB7 T T c.2620A>C p.Lys874Gln p.K874Q ENST00000321617 18/20 71 55 11 23 21 0 CASKIN2,missense_variant,p.Lys874Gln,ENST00000321617,NM_020753.4;CASKIN2,missense_variant,p.Lys792Gln,ENST00000433559,NM_001142643.2;TMEM94,downstream_gene_variant,,ENST00000314256,NM_014738.5,NM_001321149.1;TMEM94,downstream_gene_variant,,ENST00000375248,NM_001321148.1;TMEM94,downstream_gene_variant,,ENST00000577245,;TMEM94,downstream_gene_variant,,ENST00000577247,;TMEM94,downstream_gene_variant,,ENST00000579208,;CASKIN2,downstream_gene_variant,,ENST00000581870,;TMEM94,downstream_gene_variant,,ENST00000584694,;MIR6785,downstream_gene_variant,,ENST00000618984,;TMEM94,downstream_gene_variant,,ENST00000577194,;TMEM94,downstream_gene_variant,,ENST00000579898,;CASKIN2,downstream_gene_variant,,ENST00000580021,;TMEM94,downstream_gene_variant,,ENST00000581085,;TMEM94,downstream_gene_variant,,ENST00000581453,;CASKIN2,downstream_gene_variant,,ENST00000583246,;CASKIN2,downstream_gene_variant,,ENST00000583258,;TMEM94,downstream_gene_variant,,ENST00000585105,; G ENSG00000177303 ENST00000321617 Transcript missense_variant 3207/5015 2620/3609 874/1202 K/Q Aag/Cag rs1287196975 1 -1 CASKIN2 HGNC HGNC:18200 protein_coding YES CCDS11723.1 ENSP00000325355 Q8WXE0 UPI0000140BCB NM_020753.4 deleterious(0.01) benign(0.255) 18/20 Pfam_domain:PF16907,hmmpanther:PTHR24177,hmmpanther:PTHR24177:SF37,mobidb-lite MODERATE 1 SNV 1 PASS TTG . . 0.0002087 0.001357 0.0002104 0.0004892 75502454 PRPSAP1 . GRCh38 chr17 76330654 76330655 + Frame_Shift_Ins INS - - TG novel 7316-319 BS_79FBVAB7 - - c.474_475dup p.Ile159ThrfsTer46 p.I159Tfs*46 ENST00000446526 5/10 84 53 28 31 31 0 PRPSAP1,frameshift_variant,p.Ile159ThrfsTer46,ENST00000446526,NM_002766.2;PRPSAP1,frameshift_variant,p.Ile56ThrfsTer46,ENST00000324684,;PRPSAP1,frameshift_variant,p.Ile56ThrfsTer46,ENST00000436498,;PRPSAP1,frameshift_variant,p.Ile56ThrfsTer46,ENST00000435555,;PRPSAP1,frameshift_variant,p.Ile56ThrfsTer?,ENST00000423915,;PRPSAP1,downstream_gene_variant,,ENST00000442767,;PRPSAP1,non_coding_transcript_exon_variant,,ENST00000494662,;PRPSAP1,upstream_gene_variant,,ENST00000472686,;PRPSAP1,upstream_gene_variant,,ENST00000488339,;PRPSAP1,upstream_gene_variant,,ENST00000586137,; TG ENSG00000161542 ENST00000446526 Transcript frameshift_variant 921-922/3660 475-476/1158 159/385 I/TX att/aCAtt 1 -1 PRPSAP1 HGNC HGNC:9466 protein_coding YES CCDS11743.2 ENSP00000414624 Q14558 UPI0000D4D88C NM_002766.2 5/10 hmmpanther:PTHR10210:SF28,hmmpanther:PTHR10210,TIGRFAM_domain:TIGR01251,Gene3D:3.40.50.2020,Superfamily_domains:SSF53271 HIGH 1 insertion 1 PASS AAT . . 76330654 ZNF461 . GRCh38 chr19 36639154 36639154 + Missense_Mutation SNP G G T novel 7316-319 BS_79FBVAB7 G G c.1191C>A p.His397Gln p.H397Q ENST00000588268 6/6 86 69 7 23 20 0 ZNF461,missense_variant,p.His397Gln,ENST00000588268,NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1;ZNF461,missense_variant,p.His374Gln,ENST00000360357,NM_001322827.1,NM_001322826.1,NM_001297623.2;ZNF461,missense_variant,p.His397Gln,ENST00000614133,;ZNF461,missense_variant,p.His128Gln,ENST00000618437,;ZNF461,downstream_gene_variant,,ENST00000591370,NM_001322828.1;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000588844,;ZNF461,downstream_gene_variant,,ENST00000590361,; T ENSG00000197808 ENST00000588268 Transcript missense_variant 1419/2584 1191/1692 397/563 H/Q caC/caA 1 -1 ZNF461 HGNC HGNC:21629 protein_coding YES CCDS54257.1 ENSP00000467931 Q8TAF7 UPI00002021CA NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1 tolerated(0.21) benign(0.003) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF277,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGT . . 36639154 CIC . GRCh38 chr19 42289883 42289883 + Missense_Mutation SNP A A C novel 7316-319 BS_79FBVAB7 A A c.1396A>C p.Lys466Gln p.K466Q ENST00000575354 9/20 77 63 13 26 25 0 CIC,missense_variant,p.Lys1375Gln,ENST00000572681,NM_001304815.1;CIC,missense_variant,p.Lys466Gln,ENST00000160740,;CIC,missense_variant,p.Lys466Gln,ENST00000575354,NM_015125.4;CIC,upstream_gene_variant,,ENST00000573349,;CIC,upstream_gene_variant,,ENST00000576505,;CIC,downstream_gene_variant,,ENST00000575839,;CIC,upstream_gene_variant,,ENST00000571033,;CIC,upstream_gene_variant,,ENST00000575287,; C ENSG00000079432 ENST00000575354 Transcript missense_variant 1436/5473 1396/4827 466/1608 K/Q Aag/Cag 1 1 CIC HGNC HGNC:14214 protein_coding YES CCDS12601.1 ENSP00000458663 Q96RK0 UPI000013C5A0 NM_015125.4 deleterious_low_confidence(0) probably_damaging(0.991) 9/20 hmmpanther:PTHR13059,hmmpanther:PTHR13059:SF13 MODERATE 1 SNV 1 1 PASS CAA . . 42289883 MZF1 . GRCh38 chr19 58562311 58562311 + Missense_Mutation SNP G G C rs1485224095 7316-319 BS_79FBVAB7 G G c.1966C>G p.Pro656Ala p.P656A ENST00000215057 6/6 78 64 10 34 34 0 MZF1,missense_variant,p.Pro656Ala,ENST00000215057,NM_198055.1;MZF1,missense_variant,p.Pro656Ala,ENST00000599369,NM_003422.2;MZF1,3_prime_UTR_variant,,ENST00000594234,NM_001267033.1;UBE2M,upstream_gene_variant,,ENST00000253023,NM_003969.3;UBE2M,upstream_gene_variant,,ENST00000595957,;MZF1-AS1,intron_variant,,ENST00000593642,;MZF1-AS1,intron_variant,,ENST00000600534,;MZF1-AS1,intron_variant,,ENST00000600726,;MZF1,non_coding_transcript_exon_variant,,ENST00000600004,;,regulatory_region_variant,,ENSR00000111892,; C ENSG00000099326 ENST00000215057 Transcript missense_variant 2527/2905 1966/2205 656/734 P/A Ccc/Gcc rs1485224095,COSM6205495 1 -1 MZF1 HGNC HGNC:13108 protein_coding YES CCDS12988.1 ENSP00000215057 P28698 A0A024R4T5 UPI0000072863 NM_198055.1 tolerated(0.31) benign(0) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF2,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GGG . . 58562311 RAB5IF . GRCh38 chr20 36612066 36612066 + Missense_Mutation SNP C C T novel 7316-319 BS_79FBVAB7 C C c.275C>T p.Pro92Leu p.P92L ENST00000342422 3/3 76 52 24 39 39 0 RAB5IF,missense_variant,p.Pro92Leu,ENST00000342422,NM_199483.2;RAB5IF,3_prime_UTR_variant,,ENST00000344795,NM_018840.4;RAB5IF,3_prime_UTR_variant,,ENST00000373852,NM_001199534.1;TGIF2-RAB5IF,3_prime_UTR_variant,,ENST00000558530,NM_001199535.1;SLA2,downstream_gene_variant,,ENST00000262866,NM_032214.3;SLA2,downstream_gene_variant,,ENST00000360672,NM_175077.2;RAB5IF,downstream_gene_variant,,ENST00000639924,;RAB5IF,3_prime_UTR_variant,,ENST00000483815,;RAB5IF,3_prime_UTR_variant,,ENST00000492721,;RAB5IF,non_coding_transcript_exon_variant,,ENST00000494506,;RAB5IF,downstream_gene_variant,,ENST00000491113,; T ENSG00000101084 ENST00000342422 Transcript missense_variant 405/896 275/432 92/143 P/L cCa/cTa 1 1 RAB5IF HGNC HGNC:15870 protein_coding YES CCDS13279.1 ENSP00000341213 Q9BUV8 UPI00002371AB NM_199483.2 tolerated_low_confidence(0.1) benign(0.003) 3/3 MODERATE SNV 2 PASS CCA . . 36612066 PTPRT . GRCh38 chr20 42082003 42082003 + Missense_Mutation SNP C C T rs151076965 7316-319 BS_79FBVAB7 C C c.4208G>A p.Arg1403His p.R1403H ENST00000373198 31/32 83 59 24 37 36 0 PTPRT,missense_variant,p.Arg1403His,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Arg1406His,ENST00000373193,;PTPRT,missense_variant,p.Arg1374His,ENST00000373201,;PTPRT,missense_variant,p.Arg1383His,ENST00000373190,;PTPRT,missense_variant,p.Arg1394His,ENST00000373184,;PTPRT,missense_variant,p.Arg1393His,ENST00000356100,;PTPRT,missense_variant,p.Arg1384His,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Arg1002His,ENST00000612229,;PTPRT,missense_variant,p.Arg1019His,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,; T ENSG00000196090 ENST00000373198 Transcript missense_variant 4444/12746 4208/4383 1403/1460 R/H cGt/cAt rs151076965 1 -1 PTPRT HGNC HGNC:9682 protein_coding YES CCDS68127.1 ENSP00000362294 A0A075B6H0 UPI00001AF6FA NM_133170.3 deleterious(0) probably_damaging(0.993) 31/32 Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_patterns:PS00383,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799,cd00047 0.0022 0.0109 0.001444 0.004977 MODERATE 1 SNV 1 1 PASS ACG . . 0.006034 0.001112 0.0005659 0.0002031 0.02346 0.007831 0.006934 0.0003899 42082003 NLGN3 . GRCh38 chrX 71169864 71169864 + Missense_Mutation SNP C C A novel 7316-319 BS_79FBVAB7 C C c.2314C>A p.His772Asn p.H772N ENST00000358741 8/8 76 48 28 44 44 0 NLGN3,missense_variant,p.His752Asn,ENST00000374051,NM_001321276.1,NM_018977.3;NLGN3,missense_variant,p.His732Asn,ENST00000536169,NM_001166660.1;NLGN3,missense_variant,p.His772Asn,ENST00000358741,NM_181303.1;NLGN3,3_prime_UTR_variant,,ENST00000612180,;NLGN3,downstream_gene_variant,,ENST00000395855,;NLGN3,non_coding_transcript_exon_variant,,ENST00000476589,; A ENSG00000196338 ENST00000358741 Transcript missense_variant 2617/3046 2314/2547 772/848 H/N Cac/Aac 1 1 NLGN3 HGNC HGNC:14289 protein_coding YES CCDS55441.1 ENSP00000351591 Q9NZ94 X5DNV3 UPI000006FCBB NM_181303.1 tolerated_low_confidence(0.07) benign(0.005) 8/8 hmmpanther:PTHR43903,hmmpanther:PTHR43903:SF4 MODERATE 1 SNV 5 1 PASS CCA . . 71169864 ATRX . GRCh38 chrX 77654139 77654139 + Nonsense_Mutation SNP G G A rs919106518 7316-319 BS_79FBVAB7 G G c.4276C>T p.Arg1426Ter p.R1426* ENST00000373344 14/35 59 42 17 24 23 0 ATRX,stop_gained,p.Arg1426Ter,ENST00000373344,NM_000489.4;ATRX,stop_gained,p.Arg1388Ter,ENST00000395603,NM_138270.3;ATRX,downstream_gene_variant,,ENST00000624166,;ATRX,3_prime_UTR_variant,,ENST00000480283,;ATRX,upstream_gene_variant,,ENST00000460639,;ATRX,upstream_gene_variant,,ENST00000623242,; A ENSG00000085224 ENST00000373344 Transcript stop_gained 4544/11220 4276/7479 1426/2492 R/* Cga/Tga rs919106518,COSM144223,COSM1125447 1 -1 ATRX HGNC HGNC:886 protein_coding YES CCDS14434.1 ENSP00000362441 P46100 A4LAA3 UPI00001B644E NM_000489.4 14/35 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10799:SF843,hmmpanther:PTHR10799 0,1,1 HIGH 1 SNV 1 0,1,1 1 PASS CGC . . 77654139 UTP14A . GRCh38 chrX 129921254 129921254 + Missense_Mutation SNP G G A novel 7316-319 BS_79FBVAB7 G G c.1015G>A p.Val339Ile p.V339I ENST00000394422 11/15 56 36 20 18 18 0 UTP14A,missense_variant,p.Val339Ile,ENST00000394422,NM_006649.3;UTP14A,missense_variant,p.Val287Ile,ENST00000425117,NM_001166221.1;UTP14A,missense_variant,p.Val171Ile,ENST00000427972,;AL034405.1,intron_variant,,ENST00000432062,;UTP14A,non_coding_transcript_exon_variant,,ENST00000498179,; A ENSG00000156697 ENST00000394422 Transcript missense_variant 1043/2488 1015/2316 339/771 V/I Gta/Ata 1 1 UTP14A HGNC HGNC:10665 protein_coding YES CCDS14615.1 ENSP00000377944 Q9BVJ6 UPI0000072A7B NM_006649.3 deleterious(0.04) benign(0.063) 11/15 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF04615,hmmpanther:PTHR14150,hmmpanther:PTHR14150:SF14,mobidb-lite MODERATE 1 SNV 1 PASS GGT . . 129921254 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 44 29 11 23 22 0 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 SLC44A5 . GRCh38 chr1 75213784 75213784 + Missense_Mutation SNP G G T novel 7316-101 BS_C4BTBM7G G G c.1883C>A p.Ala628Asp p.A628D ENST00000370855 22/24 75 67 8 43 42 0 SLC44A5,missense_variant,p.Ala628Asp,ENST00000370855,NM_152697.4,NM_001320283.1;SLC44A5,missense_variant,p.Ala628Asp,ENST00000370859,NM_001320285.1,NM_001320287.1,NM_001130058.1; T ENSG00000137968 ENST00000370855 Transcript missense_variant 1997/4406 1883/2160 628/719 A/D gCc/gAc 1 -1 SLC44A5 HGNC HGNC:28524 protein_coding YES CCDS667.1 ENSP00000359892 A0A0A0MRP1 UPI000013E195 NM_152697.4,NM_001320283.1 deleterious(0) possibly_damaging(0.857) 22/24 Pfam_domain:PF04515,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF42,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS GGC . . 75213784 TCHH . GRCh38 chr1 152108526 152108526 + Missense_Mutation SNP C C A rs879174342 7316-101 BS_C4BTBM7G C C c.4691G>T p.Arg1564Leu p.R1564L ENST00000614923 3/3 52 37 9 37 34 0 TCHH,missense_variant,p.Arg1564Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg1564Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,;,TF_binding_site_variant,,MA0139.1,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 4786/6995 4691/5832 1564/1943 R/L cGc/cTc rs879174342,COSM6507740,COSM3740655 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.78) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GCG . . 152108526 FLG2 . GRCh38 chr1 152354993 152354993 + Missense_Mutation SNP C C G 7316-101 BS_C4BTBM7G C C c.2793G>C p.Gln931His p.Q931H ENST00000388718 3/3 84 70 5 40 39 0 FLG2,missense_variant,p.Gln931His,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 2866/9124 2793/7176 931/2391 Q/H caG/caC COSM3996948 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 deleterious(0.01) probably_damaging(0.927) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS ACT . . 152354993 ATP8B2 . GRCh38 chr1 154343277 154343277 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.1717A>C p.Ile573Leu p.I573L ENST00000368489 16/28 64 53 8 33 33 0 ATP8B2,missense_variant,p.Ile573Leu,ENST00000368489,NM_020452.3;RNU7-57P,downstream_gene_variant,,ENST00000459540,;ATP8B2,downstream_gene_variant,,ENST00000426445,;ATP8B2,upstream_gene_variant,,ENST00000505882,;,regulatory_region_variant,,ENSR00000013902,; C ENSG00000143515 ENST00000368489 Transcript missense_variant 1717/5861 1717/3672 573/1223 I/L Atc/Ctc 1 1 ATP8B2 HGNC HGNC:13534 protein_coding YES CCDS1066.1 ENSP00000357475 P98198 UPI00001B92AB NM_020452.3 tolerated(0.13) benign(0.124) 16/28 Gene3D:3.40.1110.10,Pfam_domain:PF13246,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF46,SFLDF00027,SFLDG00002,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01652,cd02073 MODERATE 1 SNV 1 PASS CAT . . 154343277 IGSF9 . GRCh38 chr1 159932561 159932561 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.1196A>C p.Asn399Thr p.N399T ENST00000368094 10/21 56 47 8 41 41 0 IGSF9,missense_variant,p.Asn399Thr,ENST00000368094,NM_001135050.1;IGSF9,missense_variant,p.Asn383Thr,ENST00000361509,NM_020789.3;IGSF9,missense_variant,p.Asn399Thr,ENST00000611023,;IGSF9,non_coding_transcript_exon_variant,,ENST00000493195,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,;IGSF9,upstream_gene_variant,,ENST00000496645,; G ENSG00000085552 ENST00000368094 Transcript missense_variant 1394/4044 1196/3540 399/1179 N/T aAc/aCc 1 -1 IGSF9 HGNC HGNC:18132 protein_coding YES CCDS44254.1 ENSP00000357073 Q9P2J2 UPI000004A10B NM_001135050.1 deleterious(0) probably_damaging(1) 10/21 PROSITE_profiles:PS50835,hmmpanther:PTHR44248,hmmpanther:PTHR44248:SF2,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS GTT . . 159932561 F5 . GRCh38 chr1 169541055 169541055 + Missense_Mutation SNP T T A 7316-101 BS_C4BTBM7G T T c.4035A>T p.Gln1345His p.Q1345H ENST00000367797 13/25 43 33 6 37 34 0 F5,missense_variant,p.Gln1350His,ENST00000367796,;F5,missense_variant,p.Gln1345His,ENST00000367797,NM_000130.4; A ENSG00000198734 ENST00000367797 Transcript missense_variant 4237/7024 4035/6675 1345/2224 Q/H caA/caT COSM3802773 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(0.11) benign(0) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199,mobidb-lite 1 MODERATE 1 SNV 1 1 1 PASS TTT . . 169541055 EGLN1 . GRCh38 chr1 231421667 231421667 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.222T>G p.His74Gln p.H74Q ENST00000366641 1/5 74 57 13 37 36 0 EGLN1,missense_variant,p.His74Gln,ENST00000366641,NM_022051.2;EGLN1,upstream_gene_variant,,ENST00000476717,;,regulatory_region_variant,,ENSR00000021720,; C ENSG00000135766 ENST00000366641 Transcript missense_variant 3378/7097 222/1281 74/426 H/Q caT/caG 1 -1 EGLN1 HGNC HGNC:1232 protein_coding YES CCDS1595.1 ENSP00000355601 Q9GZT9 R4SCQ0 UPI0000050C90 NM_022051.2 tolerated(0.71) benign(0) 1/5 mobidb-lite,hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF4,Gene3D:3.90.1410.10 MODERATE 1 SNV 1 1 PASS AAT . . 231421667 TARBP1 . GRCh38 chr1 234479103 234479103 + Translation_Start_Site SNP T T G novel 7316-101 BS_C4BTBM7G T T c.1A>C p.Met1? p.M1? ENST00000040877 1/30 66 55 8 36 35 0 TARBP1,start_lost,p.Met1?,ENST00000040877,NM_005646.3;,regulatory_region_variant,,ENSR00000022073,; G ENSG00000059588 ENST00000040877 Transcript start_lost 1/5130 1/4866 1/1621 M/L Atg/Ctg 1 -1 TARBP1 HGNC HGNC:11568 protein_coding YES CCDS1601.1 ENSP00000040877 Q13395 UPI000006DB0F NM_005646.3 deleterious(0) benign(0.076) 1/30 PROSITE_profiles:PS51624 HIGH 1 SNV 1 PASS ATT . . 234479103 IRF2BP2 . GRCh38 chr1 234608840 234608840 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.655A>C p.Thr219Pro p.T219P ENST00000366609 1/2 69 52 12 46 43 1 IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366609,NM_182972.2;IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366610,NM_001077397.1;AL160408.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;,regulatory_region_variant,,ENSR00000257385,; G ENSG00000168264 ENST00000366609 Transcript missense_variant 686/4663 655/1764 219/587 T/P Acc/Ccc 1 -1 IRF2BP2 HGNC HGNC:21729 protein_coding YES CCDS1602.1 ENSP00000355568 Q7Z5L9 UPI000004FA32 NM_182972.2 tolerated(0.33) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18 MODERATE 1 SNV 1 1 PASS GTT . . 234608840 PPM1G . GRCh38 chr2 27409308 27409308 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.115A>C p.Met39Leu p.M39L ENST00000344034 1/10 99 82 10 45 45 0 PPM1G,missense_variant,p.Met39Leu,ENST00000344034,NM_177983.2;PPM1G,non_coding_transcript_exon_variant,,ENST00000472077,;PPM1G,non_coding_transcript_exon_variant,,ENST00000484925,;,regulatory_region_variant,,ENSR00000114421,; G ENSG00000115241 ENST00000344034 Transcript missense_variant 380/2311 115/1641 39/546 M/L Atg/Ctg 1 -1 PPM1G HGNC HGNC:9278 protein_coding YES CCDS1752.1 ENSP00000342778 O15355 Q6IAU5 UPI000000106E NM_177983.2 tolerated(0.46) possibly_damaging(0.59) 1/10 Gene3D:3.60.40.10,Pfam_domain:PF00481,PROSITE_profiles:PS51746,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF544,SMART_domains:SM00332,Superfamily_domains:SSF81606,cd00143 MODERATE 1 SNV 1 PASS ATG . . 27409308 TGOLN2 . GRCh38 chr2 85327274 85327274 + Missense_Mutation SNP C C T rs201124506 7316-101 BS_C4BTBM7G C C c.458G>A p.Arg153Lys p.R153K ENST00000409232 2/4 64 50 6 36 35 1 TGOLN2,missense_variant,p.Arg153Lys,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Arg153Lys,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Arg153Lys,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Arg153Lys,ENST00000409015,;TGOLN2,missense_variant,p.Arg153Lys,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Arg153Lys,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; T ENSG00000152291 ENST00000409232 Transcript missense_variant 520/2235 458/1362 153/453 R/K aGg/aAg rs201124506,COSM5950301,COSM5950300 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(1) benign(0.001) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCT . . 4.082e-06 3.269e-05 85327274 EVX2 . GRCh38 chr2 176080397 176080397 + Missense_Mutation SNP T T G rs1477849960 7316-101 BS_C4BTBM7G T T c.1141A>C p.Ser381Arg p.S381R ENST00000308618 3/3 40 27 10 27 26 0 EVX2,missense_variant,p.Ser381Arg,ENST00000308618,NM_001080458.1;,regulatory_region_variant,,ENSR00000126735,;,TF_binding_site_variant,,MA0139.1,; G ENSG00000174279 ENST00000308618 Transcript missense_variant 1278/4203 1141/1431 381/476 S/R Agc/Cgc rs1477849960 1 -1 EVX2 HGNC HGNC:3507 protein_coding YES CCDS33333.1 ENSP00000312385 Q03828 UPI000012A2AF NM_001080458.1 deleterious_low_confidence(0.01) benign(0.001) 3/3 hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF404,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTG . . 176080397 OBSL1 . GRCh38 chr2 219551753 219551753 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.5459T>G p.Val1820Gly p.V1820G ENST00000404537 20/21 86 76 10 43 43 0 OBSL1,missense_variant,p.Val1820Gly,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Val1728Gly,ENST00000373876,;TMEM198,downstream_gene_variant,,ENST00000344458,NM_001303098.1;TMEM198,downstream_gene_variant,,ENST00000373883,NM_001005209.2;TMEM198,downstream_gene_variant,,ENST00000421791,;TMEM198,downstream_gene_variant,,ENST00000451952,;OBSL1,downstream_gene_variant,,ENST00000456147,;OBSL1,downstream_gene_variant,,ENST00000603926,NM_001173431.1;OBSL1,downstream_gene_variant,,ENST00000604031,;MIR3132,upstream_gene_variant,,ENST00000581997,;AC009955.3,upstream_gene_variant,,ENST00000596829,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,non_coding_transcript_exon_variant,,ENST00000489804,;OBSL1,non_coding_transcript_exon_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000472388,;OBSL1,downstream_gene_variant,,ENST00000596474,; C ENSG00000124006 ENST00000404537 Transcript missense_variant 5516/5841 5459/5691 1820/1896 V/G gTt/gGt 1 -1 OBSL1 HGNC HGNC:29092 protein_coding YES CCDS46520.1 ENSP00000385636 O75147 UPI0000E07EA0 NM_015311.2 tolerated(0.25) probably_damaging(0.928) 20/21 PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF30,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 1 PASS AAC . . 219551753 CROCC2 . GRCh38 chr2 240918884 240918884 + Splice_Region SNP T T G novel 7316-101 BS_C4BTBM7G T T c.229+8T>G ENST00000443866 86 68 9 36 36 0 CROCC2,splice_region_variant,,ENST00000443866,NM_001351305.1; G ENSG00000226321 ENST00000443866 Transcript splice_region_variant,intron_variant 1 1 CROCC2 HGNC HGNC:51677 protein_coding YES ENSP00000397968 H7BZ55 UPI0004F2364A NM_001351305.1 2/31 LOW 1 SNV 5 PASS GTG . . 240918884 SRGAP3 . GRCh38 chr3 8985650 8985650 + Missense_Mutation SNP T T G rs1220945618 7316-101 BS_C4BTBM7G T T c.3169A>C p.Met1057Leu p.M1057L ENST00000383836 22/22 101 88 11 30 29 1 SRGAP3,missense_variant,p.Met1057Leu,ENST00000383836,NM_014850.3;SRGAP3,missense_variant,p.Met1033Leu,ENST00000360413,NM_001033117.2; G ENSG00000196220 ENST00000383836 Transcript missense_variant 3597/8656 3169/3300 1057/1099 M/L Atg/Ctg rs1220945618 1 -1 SRGAP3 HGNC HGNC:19744 protein_coding YES CCDS2572.1 ENSP00000373347 O43295 UPI0000074099 NM_014850.3 tolerated_low_confidence(1) benign(0) 22/22 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15 MODERATE 1 SNV 1 1 PASS ATG . . 8985650 ATXN7 . GRCh38 chr3 63912821 63912821 + Missense_Mutation SNP A A C 7316-101 BS_C4BTBM7G A A c.223A>C p.Met75Leu p.M75L ENST00000295900 3/13 54 45 9 29 28 0 ATXN7,missense_variant,p.Met75Leu,ENST00000295900,NM_000333.3;ATXN7,missense_variant,p.Met75Leu,ENST00000538065,NM_001177387.1;ATXN7,missense_variant,p.Met75Leu,ENST00000487717,;ATXN7,missense_variant,p.Met75Leu,ENST00000474112,;ATXN7,missense_variant,p.Met75Leu,ENST00000522345,;ATXN7,downstream_gene_variant,,ENST00000474513,;SCAANT1,upstream_gene_variant,,ENST00000626439,;,regulatory_region_variant,,ENSR00000153622,; C ENSG00000285258 ENST00000295900 Transcript missense_variant 773/7224 223/2679 75/892 M/L Atg/Ctg COSM4913948,COSM4913947 1 1 ATXN7 HGNC HGNC:10560 protein_coding YES CCDS43102.1 ENSP00000295900 O15265 UPI0000126640 NM_000333.3 tolerated(0.08) possibly_damaging(0.892) 3/13 Gene3D:1.10.565.10,hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF2,Low_complexity_(Seg):seg 1,1 MODERATE SNV 1 1,1 1 PASS AAT . . 63912821 VWA5B2 . GRCh38 chr3 184230644 184230644 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.116A>C p.Asn39Thr p.N39T ENST00000426955 1/19 98 73 15 41 40 0 VWA5B2,missense_variant,p.Asn39Thr,ENST00000426955,NM_138345.2;VWA5B2,upstream_gene_variant,,ENST00000273794,NM_001320373.1;VWA5B2,upstream_gene_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000474580,;VWA5B2,upstream_gene_variant,,ENST00000497229,;,regulatory_region_variant,,ENSR00000162897,; C ENSG00000145198 ENST00000426955 Transcript missense_variant 216/4120 116/3729 39/1242 N/T aAc/aCc 1 1 VWA5B2 HGNC HGNC:25144 protein_coding YES CCDS54686.1 ENSP00000398688 Q8N398 UPI0000412DE9 NM_138345.2 deleterious(0) probably_damaging(0.998) 1/19 Pfam_domain:PF13757,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107 MODERATE 1 SNV 1 PASS AAC . . 184230644 TERT . GRCh38 chr5 1294510 1294510 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.376A>C p.Thr126Pro p.T126P ENST00000310581 2/16 86 75 8 45 45 0 TERT,missense_variant,p.Thr126Pro,ENST00000310581,NM_198253.2;TERT,missense_variant,p.Thr126Pro,ENST00000334602,NM_001193376.1;TERT,missense_variant,p.Thr126Pro,ENST00000508104,;TERT,downstream_gene_variant,,ENST00000522877,;TERT,missense_variant,p.Thr126Pro,ENST00000460137,;,regulatory_region_variant,,ENSR00000177539,; G ENSG00000164362 ENST00000310581 Transcript missense_variant 434/4018 376/3399 126/1132 T/P Acg/Ccg 1 -1 TERT HGNC HGNC:11730 protein_coding YES CCDS3861.2 ENSP00000309572 O14746 UPI0000031309 NM_198253.2 tolerated(0.06) possibly_damaging(0.68) 2/16 hmmpanther:PTHR12066 MODERATE 1 SNV 1 1 PASS GTG . . 1294510 FOXQ1 . GRCh38 chr6 1313890 1313890 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.1186T>G p.Tyr396Asp p.Y396D ENST00000296839 1/1 78 70 6 27 27 0 FOXQ1,missense_variant,p.Tyr396Asp,ENST00000296839,NM_033260.3; G ENSG00000164379 ENST00000296839 Transcript missense_variant 1451/2309 1186/1212 396/403 Y/D Tac/Gac 1 1 FOXQ1 HGNC HGNC:20951 protein_coding YES CCDS4471.1 ENSP00000296839 Q9C009 UPI000013E397 NM_033260.3 tolerated_low_confidence(0.17) possibly_damaging(0.503) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF206 MODERATE 1 SNV PASS GTA . . 1313890 MUC21 . GRCh38 chr6 30986977 30986977 + Missense_Mutation SNP G G T 7316-101 BS_C4BTBM7G G G c.802G>T p.Gly268Cys p.G268C ENST00000376296 2/3 44 29 6 44 41 0 MUC21,missense_variant,p.Gly268Cys,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,; T ENSG00000204544 ENST00000376296 Transcript missense_variant 1043/3651 802/1701 268/566 G/C Ggc/Tgc COSM451188 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 deleterious(0) possibly_damaging(0.574) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR39408,hmmpanther:PTHR39408,Pfam_domain:PF05647 1 MODERATE 1 SNV 1 1 PASS CGG . . 30986977 C6orf141 . GRCh38 chr6 49550935 49550935 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.143A>C p.Asn48Thr p.N48T ENST00000529246 1/1 82 67 11 37 36 0 C6orf141,missense_variant,p.Asn48Thr,ENST00000529246,NM_001145652.1;C6orf141,upstream_gene_variant,,ENST00000424426,;C6orf141,missense_variant,p.Asn48Thr,ENST00000371194,;C6orf141,missense_variant,p.Asn48Thr,ENST00000414696,;C6orf141,upstream_gene_variant,,ENST00000415078,;C6orf141,upstream_gene_variant,,ENST00000526429,;C6orf141,upstream_gene_variant,,ENST00000530382,;,regulatory_region_variant,,ENSR00000197764,; C ENSG00000197261 ENST00000529246 Transcript missense_variant 290/1450 143/735 48/244 N/T aAt/aCt 1 1 C6orf141 HGNC HGNC:21351 protein_coding YES CCDS55018.1 ENSP00000434602 Q5SZD1 UPI000013E9DC NM_001145652.1 tolerated(0.17) benign(0.038) 1/1 mobidb-lite,hmmpanther:PTHR36880 MODERATE 1 SNV PASS AAT . . 49550935 NCOA7 . GRCh38 chr6 125791065 125791065 + Splice_Region SNP T T G novel 7316-101 BS_C4BTBM7G T T c.-67T>G ENST00000392477 1/16 68 59 8 46 45 0 NCOA7,splice_region_variant,,ENST00000392477,NM_001122842.2,NM_181782.4;NCOA7,splice_region_variant,,ENST00000229634,NM_001199621.1;NCOA7,splice_region_variant,,ENST00000417494,;NCOA7,splice_region_variant,,ENST00000453302,;NCOA7,intron_variant,,ENST00000368357,NM_001199620.1,NM_001199619.1;,regulatory_region_variant,,ENSR00000202245,; G ENSG00000111912 ENST00000392477 Transcript splice_region_variant,5_prime_UTR_variant 303/6457 1 1 NCOA7 HGNC HGNC:21081 protein_coding YES CCDS5132.1 ENSP00000376269 Q8NI08 UPI00001AE66D NM_001122842.2,NM_181782.4 1/16 LOW 1 SNV 1 PASS GTA . . 125791065 MYB . GRCh38 chr6 135181539 135181539 + Splice_Region SNP A A C novel 7316-101 BS_C4BTBM7G A A c.23+3A>C ENST00000341911 67 56 10 41 41 0 MYB,splice_region_variant,,ENST00000316528,;MYB,splice_region_variant,,ENST00000341911,NM_001130173.1;MYB,splice_region_variant,,ENST00000367814,NM_005375.3;MYB,splice_region_variant,,ENST00000420123,;MYB,splice_region_variant,,ENST00000442647,NM_001130172.1;MYB,splice_region_variant,,ENST00000525369,NM_001161657.1;MYB,splice_region_variant,,ENST00000527615,;MYB,splice_region_variant,,ENST00000528774,NM_001161656.1;MYB,splice_region_variant,,ENST00000533624,NM_001161660.1;MYB,splice_region_variant,,ENST00000534044,NM_001161659.1;MYB,splice_region_variant,,ENST00000534121,NM_001161658.1;MYB,splice_region_variant,,ENST00000616088,;MYB,splice_region_variant,,ENST00000618728,;MYB,upstream_gene_variant,,ENST00000430686,;MYB,upstream_gene_variant,,ENST00000531845,;MYB,splice_region_variant,,ENST00000339290,;MYB,splice_region_variant,,ENST00000367812,;MYB,splice_region_variant,,ENST00000438901,;MYB,splice_region_variant,,ENST00000463282,;MYB,splice_region_variant,,ENST00000524588,;MYB,splice_region_variant,,ENST00000525002,;MYB,splice_region_variant,,ENST00000525477,;MYB,splice_region_variant,,ENST00000525514,;MYB,splice_region_variant,,ENST00000525940,;MYB,splice_region_variant,,ENST00000526187,;MYB,splice_region_variant,,ENST00000526320,;MYB,splice_region_variant,,ENST00000526565,;MYB,splice_region_variant,,ENST00000526889,;MYB,splice_region_variant,,ENST00000528015,;MYB,splice_region_variant,,ENST00000528140,;MYB,splice_region_variant,,ENST00000528343,;MYB,splice_region_variant,,ENST00000528345,;MYB,splice_region_variant,,ENST00000529262,;MYB,splice_region_variant,,ENST00000529586,;MYB,splice_region_variant,,ENST00000531519,;MYB,splice_region_variant,,ENST00000531634,;MYB,splice_region_variant,,ENST00000531737,;MYB,splice_region_variant,,ENST00000533384,;MYB,splice_region_variant,,ENST00000533808,;MYB,splice_region_variant,,ENST00000533837,;,regulatory_region_variant,,ENSR00000203343,; C ENSG00000118513 ENST00000341911 Transcript splice_region_variant,intron_variant 1 1 MYB HGNC HGNC:7545 protein_coding YES CCDS47481.1 ENSP00000339992 P10242 UPI000002AE9A NM_001130173.1 1/15 LOW 1 SNV 1 1 PASS TAA . . 135181539 MYB . GRCh38 chr6 135181540 135181540 + Splice_Region SNP A A C novel 7316-101 BS_C4BTBM7G A A c.23+4A>C ENST00000341911 67 59 7 40 40 0 MYB,splice_region_variant,,ENST00000316528,;MYB,splice_region_variant,,ENST00000341911,NM_001130173.1;MYB,splice_region_variant,,ENST00000367814,NM_005375.3;MYB,splice_region_variant,,ENST00000420123,;MYB,splice_region_variant,,ENST00000442647,NM_001130172.1;MYB,splice_region_variant,,ENST00000525369,NM_001161657.1;MYB,splice_region_variant,,ENST00000527615,;MYB,splice_region_variant,,ENST00000528774,NM_001161656.1;MYB,splice_region_variant,,ENST00000533624,NM_001161660.1;MYB,splice_region_variant,,ENST00000534044,NM_001161659.1;MYB,splice_region_variant,,ENST00000534121,NM_001161658.1;MYB,splice_region_variant,,ENST00000616088,;MYB,splice_region_variant,,ENST00000618728,;MYB,upstream_gene_variant,,ENST00000430686,;MYB,upstream_gene_variant,,ENST00000531845,;MYB,splice_region_variant,,ENST00000339290,;MYB,splice_region_variant,,ENST00000367812,;MYB,splice_region_variant,,ENST00000438901,;MYB,splice_region_variant,,ENST00000463282,;MYB,splice_region_variant,,ENST00000524588,;MYB,splice_region_variant,,ENST00000525002,;MYB,splice_region_variant,,ENST00000525477,;MYB,splice_region_variant,,ENST00000525514,;MYB,splice_region_variant,,ENST00000525940,;MYB,splice_region_variant,,ENST00000526187,;MYB,splice_region_variant,,ENST00000526320,;MYB,splice_region_variant,,ENST00000526565,;MYB,splice_region_variant,,ENST00000526889,;MYB,splice_region_variant,,ENST00000528015,;MYB,splice_region_variant,,ENST00000528140,;MYB,splice_region_variant,,ENST00000528343,;MYB,splice_region_variant,,ENST00000528345,;MYB,splice_region_variant,,ENST00000529262,;MYB,splice_region_variant,,ENST00000529586,;MYB,splice_region_variant,,ENST00000531519,;MYB,splice_region_variant,,ENST00000531634,;MYB,splice_region_variant,,ENST00000531737,;MYB,splice_region_variant,,ENST00000533384,;MYB,splice_region_variant,,ENST00000533808,;MYB,splice_region_variant,,ENST00000533837,;,regulatory_region_variant,,ENSR00000203343,; C ENSG00000118513 ENST00000341911 Transcript splice_region_variant,intron_variant 1 1 MYB HGNC HGNC:7545 protein_coding YES CCDS47481.1 ENSP00000339992 P10242 UPI000002AE9A NM_001130173.1 1/15 LOW 1 SNV 1 1 PASS AAC . . 135181540 AEBP1 . GRCh38 chr7 44104667 44104667 + Translation_Start_Site SNP T T G novel 7316-101 BS_C4BTBM7G T T c.2T>G p.Met1? p.M1? ENST00000223357 1/21 68 54 12 37 35 0 AEBP1,start_lost,p.Met1?,ENST00000223357,NM_001129.4;AEBP1,upstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000453052,;,regulatory_region_variant,,ENSR00000211784,; G ENSG00000106624 ENST00000223357 Transcript start_lost 307/4081 2/3477 1/1158 M/R aTg/aGg 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 deleterious_low_confidence(0) benign(0.284) 1/21 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 44104667 ZPBP . GRCh38 chr7 50089625 50089625 + Splice_Region SNP A A C novel 7316-101 BS_C4BTBM7G A A c.208+4T>G ENST00000046087 49 43 6 39 39 0 ZPBP,splice_region_variant,,ENST00000046087,NM_007009.2;ZPBP,splice_region_variant,,ENST00000419417,NM_001159878.1;ZPBP,splice_region_variant,,ENST00000450231,;ZPBP,splice_region_variant,,ENST00000413331,; C ENSG00000042813 ENST00000046087 Transcript splice_region_variant,intron_variant 1 -1 ZPBP HGNC HGNC:15662 protein_coding YES CCDS5509.1 ENSP00000046087 Q9BS86 UPI0000073BD0 NM_007009.2 2/7 LOW 1 SNV 1 PASS AAT . . 50089625 UFSP1 . GRCh38 chr7 100889165 100889165 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.107A>C p.His36Pro p.H36P ENST00000388761 1/1 77 64 8 37 36 0 UFSP1,missense_variant,p.His36Pro,ENST00000388761,NM_001015072.3;ACHE,downstream_gene_variant,,ENST00000241069,NM_000665.4;ACHE,downstream_gene_variant,,ENST00000302913,NM_015831.2;ACHE,downstream_gene_variant,,ENST00000411582,NM_001302621.1;ACHE,downstream_gene_variant,,ENST00000412389,;ACHE,downstream_gene_variant,,ENST00000419336,NM_001282449.1;ACHE,downstream_gene_variant,,ENST00000426415,;ACHE,downstream_gene_variant,,ENST00000428317,NM_001302622.1;ACHE,downstream_gene_variant,,ENST00000430554,;ACHE,downstream_gene_variant,,ENST00000441605,;ACHE,downstream_gene_variant,,ENST00000445236,;SRRT,downstream_gene_variant,,ENST00000448764,;SRRT,downstream_gene_variant,,ENST00000611405,NM_015908.5;SRRT,downstream_gene_variant,,ENST00000614484,NM_001128852.1;SRRT,downstream_gene_variant,,ENST00000618262,NM_001128853.1;SRRT,downstream_gene_variant,,ENST00000618411,NM_001128854.1;SRRT,downstream_gene_variant,,ENST00000423692,;ACHE,downstream_gene_variant,,ENST00000440755,;ACHE,downstream_gene_variant,,ENST00000442452,;SRRT,downstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000449389,;ACHE,downstream_gene_variant,,ENST00000454485,;SRRT,downstream_gene_variant,,ENST00000460194,;SRRT,downstream_gene_variant,,ENST00000466432,;SRRT,downstream_gene_variant,,ENST00000469602,;SRRT,downstream_gene_variant,,ENST00000474896,;SRRT,downstream_gene_variant,,ENST00000477529,;SRRT,downstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000487311,;SRRT,downstream_gene_variant,,ENST00000641476,;,regulatory_region_variant,,ENSR00000215868,; G ENSG00000176125 ENST00000388761 Transcript missense_variant 554/996 107/429 36/142 H/P cAc/cCc 1 -1 UFSP1 HGNC HGNC:33821 protein_coding YES CCDS34710.1 ENSP00000373413 Q6NVU6 UPI000006E7EF NM_001015072.3 deleterious(0) probably_damaging(0.995) 1/1 Pfam_domain:PF07910,hmmpanther:PTHR44770 MODERATE SNV PASS GTG . . 100889165 CCDC71L . GRCh38 chr7 106660523 106660523 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.374T>G p.Val125Gly p.V125G ENST00000523505 1/1 89 78 10 28 28 0 CCDC71L,missense_variant,p.Val125Gly,ENST00000523505,NM_175884.4;CCDC71L,synonymous_variant,p.Gly109=,ENST00000315965,;AC004917.1,intron_variant,,ENST00000490856,;AC004917.1,intron_variant,,ENST00000592441,;,regulatory_region_variant,,ENSR00000216494,; C ENSG00000253276 ENST00000523505 Transcript missense_variant 474/4232 374/708 125/235 V/G gTt/gGt 1 -1 CCDC71L HGNC HGNC:26685 protein_coding YES CCDS55151.1 ENSP00000430897 Q8N9Z2 UPI00003CF1DF NM_175884.4 tolerated(0.47) benign(0) 1/1 Pfam_domain:PF15374,hmmpanther:PTHR14484,hmmpanther:PTHR14484:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV PASS AAC . . 106660523 PODXL . GRCh38 chr7 131556262 131556262 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.98A>C p.Asn33Thr p.N33T ENST00000378555 1/9 101 88 12 34 34 0 PODXL,missense_variant,p.Asn33Thr,ENST00000378555,NM_001018111.2;PODXL,missense_variant,p.Asn33Thr,ENST00000322985,NM_005397.3;PODXL,intron_variant,,ENST00000465001,;PODXL,missense_variant,p.Asn33Thr,ENST00000446198,;,regulatory_region_variant,,ENSR00000218164,; G ENSG00000128567 ENST00000378555 Transcript missense_variant,splice_region_variant 346/2105 98/1677 33/558 N/T aAt/aCt 1 -1 PODXL HGNC HGNC:9171 protein_coding YES CCDS34755.1 ENSP00000367817 O00592 UPI000042467C NM_001018111.2 tolerated_low_confidence(0.31) benign(0.031) 1/9 mobidb-lite,hmmpanther:PTHR12067,PIRSF_domain:PIRSF038143 MODERATE 1 SNV 1 1 PASS ATT . . 131556262 NUP205 . GRCh38 chr7 135646155 135646155 + Splice_Region SNP T T G novel 7316-101 BS_C4BTBM7G T T c.5813-3T>G ENST00000285968 74 66 7 39 38 0 NUP205,splice_region_variant,,ENST00000285968,NM_015135.2,NM_001329434.1;NUP205,splice_region_variant,,ENST00000461255,;NUP205,splice_region_variant,,ENST00000477620,;NUP205,splice_region_variant,,ENST00000490439,;NUP205,splice_region_variant,,ENST00000607647,;NUP205,non_coding_transcript_exon_variant,,ENST00000491089,;AC093107.2,upstream_gene_variant,,ENST00000603668,; G ENSG00000155561 ENST00000285968 Transcript splice_region_variant,intron_variant 1 1 NUP205 HGNC HGNC:18658 protein_coding YES CCDS34759.1 ENSP00000285968 Q92621 UPI00001D74D8 NM_015135.2,NM_001329434.1 41/42 LOW 1 SNV 1 1 PASS CTA . . 135646155 SMARCD3 . GRCh38 chr7 151245673 151245673 + Splice_Site SNP T T G novel 7316-101 BS_C4BTBM7G T T c.79-2A>C p.X27_splice ENST00000262188 79 58 14 41 37 1 SMARCD3,splice_acceptor_variant,,ENST00000262188,NM_001003801.1;SMARCD3,splice_acceptor_variant,,ENST00000356800,NM_001003802.1;SMARCD3,splice_acceptor_variant,,ENST00000392811,NM_003078.3;SMARCD3,splice_acceptor_variant,,ENST00000491651,;AC005486.1,upstream_gene_variant,,ENST00000466775,;AC021097.1,downstream_gene_variant,,ENST00000607902,;SMARCD3,splice_acceptor_variant,,ENST00000460431,;SMARCD3,splice_acceptor_variant,,ENST00000477169,;SMARCD3,upstream_gene_variant,,ENST00000489503,;SMARCD3,splice_acceptor_variant,,ENST00000472988,;SMARCD3,splice_acceptor_variant,,ENST00000485610,;SMARCD3,intron_variant,,ENST00000469154,;SMARCD3,upstream_gene_variant,,ENST00000470588,;SMARCD3,upstream_gene_variant,,ENST00000472103,;SMARCD3,upstream_gene_variant,,ENST00000485592,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,PB0010.1,; G ENSG00000082014 ENST00000262188 Transcript splice_acceptor_variant 1 -1 SMARCD3 HGNC HGNC:11108 protein_coding YES CCDS34780.1 ENSP00000262188 Q6STE5 UPI000022D4B4 NM_001003801.1 1/12 HIGH 1 SNV 1 PASS CTG . . 151245673 PRKAG2 . GRCh38 chr7 151781296 151781296 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.322T>G p.Phe108Val p.F108V ENST00000287878 3/16 66 54 10 34 32 0 PRKAG2,missense_variant,p.Phe108Val,ENST00000287878,NM_016203.3;PRKAG2,missense_variant,p.Phe64Val,ENST00000392801,NM_001040633.1;PRKAG2,non_coding_transcript_exon_variant,,ENST00000461529,;PRKAG2,missense_variant,p.Phe108Val,ENST00000488258,;PRKAG2,non_coding_transcript_exon_variant,,ENST00000481434,; C ENSG00000106617 ENST00000287878 Transcript missense_variant 827/3305 322/1710 108/569 F/V Ttc/Gtc 1 -1 PRKAG2 HGNC HGNC:9386 protein_coding YES CCDS5928.1 ENSP00000287878 Q9UGJ0 A0A090N8Q6 UPI00001250B5 NM_016203.3 tolerated_low_confidence(0.3) benign(0.236) 3/16 mobidb-lite MODERATE 1 SNV 1 1 PASS AAC . . 151781296 NOM1 . GRCh38 chr7 156950273 156950273 + Missense_Mutation SNP A A C 7316-101 BS_C4BTBM7G A A c.536A>C p.Asn179Thr p.N179T ENST00000275820 1/11 91 77 13 40 39 0 NOM1,missense_variant,p.Asn179Thr,ENST00000275820,NM_138400.1,NM_001353366.1;AC006357.1,downstream_gene_variant,,ENST00000427073,;NOM1,upstream_gene_variant,,ENST00000460332,;,regulatory_region_variant,,ENSR00000220172,; C ENSG00000146909 ENST00000275820 Transcript missense_variant 551/6077 536/2583 179/860 N/T aAc/aCc COSM6109443 1 1 NOM1 HGNC HGNC:13244 protein_coding YES CCDS34787.1 ENSP00000275820 Q5C9Z4 UPI000020E71F NM_138400.1,NM_001353366.1 deleterious(0) probably_damaging(0.996) 1/11 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18034,hmmpanther:PTHR18034:SF4 1 MODERATE 1 SNV 1 1 PASS AAC . . 156950273 DMTN . GRCh38 chr8 22066881 22066881 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.6A>C p.Glu2Asp p.E2D ENST00000523266 2/16 64 47 11 32 32 0 DMTN,missense_variant,p.Glu2Asp,ENST00000358242,;DMTN,missense_variant,p.Glu2Asp,ENST00000523266,NM_001323394.1,NM_001978.4,NM_001323392.1;DMTN,missense_variant,p.Glu2Asp,ENST00000519907,NM_001302816.2;DMTN,missense_variant,p.Glu2Asp,ENST00000381470,NM_001323385.1,NM_001323384.1,NM_001114137.3;DMTN,missense_variant,p.Glu2Asp,ENST00000265800,NM_001323381.1,NM_001323396.1,NM_001114135.4,NM_001323380.1,NM_001323395.1,NM_001323393.1,NM_001323389.1,NM_001323390.1,NM_001114136.2,NM_001323378.1,NM_001323391.1,NM_001323397.1,NM_001323382.1;DMTN,missense_variant,p.Glu2Asp,ENST00000517305,;DMTN,missense_variant,p.Glu2Asp,ENST00000432128,;DMTN,missense_variant,p.Glu2Asp,ENST00000443491,NM_001323400.1,NM_001323401.1,NM_001323387.1,NM_001323398.1,NM_001114139.3;DMTN,missense_variant,p.Glu2Asp,ENST00000415253,NM_001114138.2,NM_001323383.1;DMTN,missense_variant,p.Glu2Asp,ENST00000523782,NM_001323399.1;DMTN,missense_variant,p.Glu2Asp,ENST00000517600,NM_001302817.2,NM_001323388.1;DMTN,missense_variant,p.Glu2Asp,ENST00000520174,;DMTN,missense_variant,p.Glu2Asp,ENST00000517418,;DMTN,missense_variant,p.Glu2Asp,ENST00000517804,;DMTN,missense_variant,p.Glu2Asp,ENST00000522148,;DMTN,missense_variant,p.Glu2Asp,ENST00000523300,;DMTN,missense_variant,p.Glu2Asp,ENST00000522340,;DMTN,missense_variant,p.Glu2Asp,ENST00000519850,;DMTN,missense_variant,p.Glu2Asp,ENST00000523623,;DMTN,missense_variant,p.Glu2Asp,ENST00000519333,;DMTN,non_coding_transcript_exon_variant,,ENST00000518816,;DMTN,non_coding_transcript_exon_variant,,ENST00000520856,;DMTN,downstream_gene_variant,,ENST00000519959,;,regulatory_region_variant,,ENSR00000221992,; C ENSG00000158856 ENST00000523266 Transcript missense_variant 468/2735 6/1218 2/405 E/D gaA/gaC 1 1 DMTN HGNC HGNC:3382 protein_coding YES CCDS6020.1 ENSP00000427866 Q08495 UPI0000129189 NM_001323394.1,NM_001978.4,NM_001323392.1 deleterious(0.03) probably_damaging(0.935) 2/16 mobidb-lite MODERATE 1 SNV 5 PASS AAC . . 22066881 LY6E . GRCh38 chr8 143018588 143018588 + Splice_Site SNP T T G novel 7316-101 BS_C4BTBM7G T T c.-345+2T>G ENST00000520466 74 65 6 47 47 0 LY6E,splice_donor_variant,,ENST00000292494,NM_002346.2;LY6E,splice_donor_variant,,ENST00000429120,NM_001127213.1;LY6E,splice_donor_variant,,ENST00000519546,;LY6E,splice_donor_variant,,ENST00000519611,;LY6E,splice_donor_variant,,ENST00000520466,;LY6E,splice_donor_variant,,ENST00000520531,;LY6E,splice_donor_variant,,ENST00000521003,;LY6E,splice_donor_variant,,ENST00000521182,;LY6E,splice_donor_variant,,ENST00000521699,;LY6E,splice_donor_variant,,ENST00000522024,;LY6E,splice_donor_variant,,ENST00000522528,;LY6E,splice_donor_variant,,ENST00000522971,;LY6E,splice_donor_variant,,ENST00000523847,;LY6E,intron_variant,,ENST00000517503,;LY6E-DT,upstream_gene_variant,,ENST00000502167,;LY6E-DT,upstream_gene_variant,,ENST00000517833,;LY6E-DT,upstream_gene_variant,,ENST00000518831,;LY6E-DT,upstream_gene_variant,,ENST00000522060,;LY6E,upstream_gene_variant,,ENST00000519615,;,regulatory_region_variant,,ENSR00000232015,; G ENSG00000160932 ENST00000520466 Transcript splice_donor_variant 1 1 LY6E HGNC HGNC:6727 protein_coding YES CCDS6394.1 ENSP00000428572 Q16553 UPI00000374A7 1/4 HIGH SNV 2 PASS GTG . . 143018588 RABL6 . GRCh38 chr9 136840491 136840491 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.2162A>C p.His721Pro p.H721P ENST00000371663 15/15 72 58 10 32 32 0 RABL6,missense_variant,p.His720Pro,ENST00000311502,NM_024718.4;RABL6,missense_variant,p.His721Pro,ENST00000371663,NM_001173988.1;RABL6,synonymous_variant,p.Pro362=,ENST00000357466,;AJM1,upstream_gene_variant,,ENST00000436881,NM_001080482.2;RABL6,downstream_gene_variant,,ENST00000629216,;RABL6,downstream_gene_variant,,ENST00000461992,;RABL6,3_prime_UTR_variant,,ENST00000464941,;RABL6,3_prime_UTR_variant,,ENST00000484471,;RABL6,downstream_gene_variant,,ENST00000435930,;RABL6,downstream_gene_variant,,ENST00000466096,; C ENSG00000196642 ENST00000371663 Transcript missense_variant 2392/3078 2162/2193 721/730 H/P cAc/cCc 1 1 RABL6 HGNC HGNC:24703 protein_coding YES CCDS55352.1 ENSP00000360727 Q3YEC7 H0Y4Z8 UPI0000E0C208 NM_001173988.1 tolerated_low_confidence(0.23) benign(0.136) 15/15 hmmpanther:PTHR14932,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAC . . 136840491 ST8SIA6 . GRCh38 chr10 17454195 17454197 + In_Frame_Del DEL GCA GCA - rs756965327 7316-101 BS_C4BTBM7G GCA GCA c.59_61del p.Leu20del p.L20del ENST00000377602 1/8 76 64 5 55 47 0 ST8SIA6,inframe_deletion,p.Leu20del,ENST00000377602,NM_001004470.1;,regulatory_region_variant,,ENSR00000025109,; - ENSG00000148488 ENST00000377602 Transcript inframe_deletion 134-136/2276 59-61/1197 20-21/398 LR/R cTGCgc/cgc rs756965327 1 -1 ST8SIA6 HGNC HGNC:23317 protein_coding YES CCDS31158.1 ENSP00000366827 P61647 UPI0000359594 NM_001004470.1 1/8 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11987:SF29,hmmpanther:PTHR11987 0.04317 0.02811 MODERATE 1 deletion 1 PASS GCGCAG . . 0.03509 0.02273 0.03886 0.02804 0.04808 0.02446 0.02703 0.05579 17454194 AC068580.4 . GRCh38 chr11 1747668 1747668 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.1523A>C p.Lys508Thr p.K508T ENST00000636397 9/10 90 69 19 38 36 1 AC068580.4,missense_variant,p.Lys508Thr,ENST00000636397,;IFITM10,missense_variant,p.Lys179Thr,ENST00000340134,NM_001170820.3;AC068580.4,missense_variant,p.Lys508Thr,ENST00000636615,;AC068580.4,intron_variant,,ENST00000636579,;AC068580.4,downstream_gene_variant,,ENST00000427721,;IFITM10,intron_variant,,ENST00000482459,;IFITM10,splice_region_variant,,ENST00000382123,;IFITM10,downstream_gene_variant,,ENST00000486852,; G ENSG00000250644 ENST00000636397 Transcript missense_variant,splice_region_variant 1596/4038 1523/1749 508/582 K/T aAa/aCa 1 -1 AC068580.4 Clone_based_ensembl_gene protein_coding YES ENSP00000489910 A0A1B0GU03 UPI0007E52B17 deleterious_low_confidence(0) unknown(0) 9/10 Pfam_domain:PF04505 MODERATE SNV 5 PASS TTT . . 1747668 CD81 . GRCh38 chr11 2377551 2377551 + Translation_Start_Site SNP T T G novel 7316-101 BS_C4BTBM7G T T c.2T>G p.Met1? p.M1? ENST00000263645 1/8 37 29 8 22 21 0 CD81,start_lost,p.Met1?,ENST00000263645,NM_004356.3;CD81,intron_variant,,ENST00000475945,;CD81,intron_variant,,ENST00000530648,;CD81,upstream_gene_variant,,ENST00000492627,;CD81,upstream_gene_variant,,ENST00000533417,;CD81-AS1,intron_variant,,ENST00000413483,;CD81-AS1,intron_variant,,ENST00000427151,;RF00019,downstream_gene_variant,,ENST00000362680,;,regulatory_region_variant,,ENSR00000035933,; G ENSG00000110651 ENST00000263645 Transcript start_lost 258/1520 2/711 1/236 M/R aTg/aGg 1 1 CD81 HGNC HGNC:1701 protein_coding YES CCDS7734.1 ENSP00000263645 P60033 A0A024RCB7 UPI0000047033 NM_004356.3 deleterious(0) possibly_damaging(0.897) 1/8 PIRSF_domain:PIRSF002419 HIGH 1 SNV 1 1 PASS ATG . . 2377551 LARGE2 . GRCh38 chr11 45922911 45922911 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.29T>G p.Leu10Arg p.L10R ENST00000531526 2/14 87 69 13 38 38 0 LARGE2,missense_variant,p.Leu10Arg,ENST00000531526,NM_152312.4;LARGE2,missense_variant,p.Leu10Arg,ENST00000325468,;LARGE2,missense_variant,p.Leu10Arg,ENST00000401752,NM_001300721.1;LARGE2,missense_variant,p.Leu10Arg,ENST00000529052,NM_001300722.1;PEX16,upstream_gene_variant,,ENST00000378750,NM_004813.2;PEX16,upstream_gene_variant,,ENST00000525192,;PEX16,upstream_gene_variant,,ENST00000532681,;LARGE2,upstream_gene_variant,,ENST00000534410,;LARGE2,upstream_gene_variant,,ENST00000414027,;LARGE2,upstream_gene_variant,,ENST00000525609,;LARGE2,upstream_gene_variant,,ENST00000528236,;PEX16,upstream_gene_variant,,ENST00000528674,;PEX16,upstream_gene_variant,,ENST00000529030,;LARGE2,upstream_gene_variant,,ENST00000530437,;,regulatory_region_variant,,ENSR00000039462,; G ENSG00000165905 ENST00000531526 Transcript missense_variant 140/2528 29/2166 10/721 L/R cTg/cGg 1 1 LARGE2 HGNC HGNC:16522 protein_coding YES CCDS31473.1 ENSP00000432869 Q8N3Y3 UPI000004B639 NM_152312.4 deleterious_low_confidence(0) benign(0.145) 2/14 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12270:SF23,hmmpanther:PTHR12270 MODERATE 1 SNV 2 PASS CTG . . 45922911 AHNAK . GRCh38 chr11 62530264 62530264 + Missense_Mutation SNP C C T rs758807301 7316-101 BS_C4BTBM7G C C c.4153G>A p.Val1385Met p.V1385M ENST00000378024 5/5 64 47 7 44 40 1 AHNAK,missense_variant,p.Val1385Met,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000528508,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000531324,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 4428/18787 4153/17673 1385/5890 V/M Gtg/Atg rs758807301,COSM6596788,COSM6596787 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.7) benign(0.007) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS ACC . . 8.196e-06 3.055e-05 8.977e-06 62530264 DSCAML1 . GRCh38 chr11 117797259 117797259 + Translation_Start_Site SNP T T G novel 7316-101 BS_C4BTBM7G T T c.1A>C p.Met1? p.M1? ENST00000321322 1/33 90 80 8 36 36 0 DSCAML1,start_lost,p.Met1?,ENST00000321322,NM_020693.3;DSCAML1,intron_variant,,ENST00000525836,;DSCAML1,upstream_gene_variant,,ENST00000527706,;FXYD2,downstream_gene_variant,,ENST00000532119,;FXYD2,downstream_gene_variant,,ENST00000514385,;,regulatory_region_variant,,ENSR00000045531,; G ENSG00000177103 ENST00000321322 Transcript start_lost 3/6899 1/6342 1/2113 M/L Atg/Ctg 1 -1 DSCAML1 HGNC HGNC:14656 protein_coding YES CCDS8384.1 ENSP00000315465 Q8TD84 UPI00000726E2 NM_020693.3 deleterious_low_confidence(0) benign(0.051) 1/33 mobidb-lite HIGH 1 SNV 1 PASS ATC . . 117797259 KMT2A . GRCh38 chr11 118436649 118436649 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.137T>G p.Val46Gly p.V46G ENST00000534358 1/36 59 48 9 26 24 2 KMT2A,missense_variant,p.Val46Gly,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Val46Gly,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Val46Gly,ENST00000531904,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000529852,;KMT2A,upstream_gene_variant,,ENST00000532204,;KMT2A,upstream_gene_variant,,ENST00000533790,;AP001267.2,upstream_gene_variant,,ENST00000532619,;,regulatory_region_variant,,ENSR00000045630,; G ENSG00000118058 ENST00000534358 Transcript missense_variant 160/16602 137/11919 46/3972 V/G gTc/gGc 1 1 KMT2A HGNC HGNC:7132 protein_coding YES CCDS55791.1 ENSP00000436786 Q03164 UPI0001E5E732 NM_001197104.1 deleterious_low_confidence(0.01) benign(0) 1/36 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTC . . 118436649 SLC2A13 . GRCh38 chr12 40105786 40105786 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.23A>C p.Asn8Thr p.N8T ENST00000280871 1/10 76 64 7 36 36 0 SLC2A13,missense_variant,p.Asn8Thr,ENST00000280871,NM_052885.3;SLC2A13,missense_variant,p.Asn8Thr,ENST00000380858,;,regulatory_region_variant,,ENSR00000050827,; G ENSG00000151229 ENST00000280871 Transcript missense_variant 74/7003 23/1947 8/648 N/T aAt/aCt 1 -1 SLC2A13 HGNC HGNC:15956 protein_coding YES CCDS8736.2 ENSP00000280871 Q96QE2 UPI000066D913 NM_052885.3 tolerated_low_confidence(0.06) benign(0.011) 1/10 MODERATE 1 SNV 1 PASS ATT . . 40105786 FAM186A . GRCh38 chr12 50352649 50352649 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.4183T>G p.Leu1395Val p.L1395V ENST00000327337 4/8 32 15 8 30 28 1 FAM186A,missense_variant,p.Leu1395Val,ENST00000543111,;FAM186A,missense_variant,p.Leu1395Val,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; C ENSG00000185958 ENST00000327337 Transcript missense_variant 4183/7127 4183/7056 1395/2351 L/V Ttg/Gtg 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.38) benign(0.215) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 MODERATE 1 SNV 5 PASS AAG . . 50352649 C12orf45 . GRCh38 chr12 104986409 104986409 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.57T>G p.Asp19Glu p.D19E ENST00000552951 1/4 86 73 9 41 41 0 C12orf45,missense_variant,p.Asp19Glu,ENST00000552951,NM_152318.2;C12orf45,missense_variant,p.Asp19Glu,ENST00000637147,;C12orf45,missense_variant,p.Asp19Glu,ENST00000622317,;C12orf45,missense_variant,p.Asp19Glu,ENST00000280749,;C12orf45,missense_variant,p.Asp19Glu,ENST00000547750,;,regulatory_region_variant,,ENSR00000056648,; G ENSG00000151131 ENST00000552951 Transcript missense_variant 100/23529 57/558 19/185 D/E gaT/gaG 1 1 C12orf45 HGNC HGNC:28628 protein_coding YES CCDS41825.1 ENSP00000447057 Q8N5I9 UPI000013DC37 NM_152318.2 tolerated_low_confidence(0.41) benign(0.006) 1/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR28674 MODERATE 1 SNV 1 PASS ATT . . 104986409 SETD1B . GRCh38 chr12 121817632 121817634 + In_Frame_Del DEL GGA GGA - rs750120084 7316-101 BS_C4BTBM7G GGA GGA c.3258_3260del p.Glu1087del p.E1087del ENST00000604567 9/17 81 67 7 39 32 0 SETD1B,inframe_deletion,p.Glu1061del,ENST00000542440,NM_015048.1;SETD1B,inframe_deletion,p.Glu1087del,ENST00000604567,;SETD1B,inframe_deletion,p.Glu1087del,ENST00000619791,;SETD1B,inframe_deletion,p.Glu1061del,ENST00000267197,; - ENSG00000139718 ENST00000604567 Transcript inframe_deletion 3308-3310/5969 3240-3242/5901 1080-1081/1966 AE/A gcGGAg/gcg rs750120084,TMP_ESP_12_122255538_122255540,COSM6458541 1 1 SETD1B HGNC HGNC:29187 protein_coding YES ENSP00000474253 Q9UPS6 UPI00021188EB 9/17 Gene3D:2.170.270.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF475,mobidb-lite,Low_complexity_(Seg):seg 0.01773 0.01676 0,0,1 MODERATE 1 deletion 5 18 0,0,1 1 PASS GCGGAG . . 0.001126 0.0004387 0.0003691 0.0009196 0.0001116 0.002059 0.001664 0.001144 0.0007603 121817631 PAN3 . GRCh38 chr13 28138737 28138737 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.80T>G p.Val27Gly p.V27G ENST00000380958 1/19 36 23 8 30 28 1 PAN3,missense_variant,p.Val27Gly,ENST00000380958,NM_175854.7;PAN3,upstream_gene_variant,,ENST00000399613,;PAN3-AS1,upstream_gene_variant,,ENST00000563843,;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;,regulatory_region_variant,,ENSR00000060397,; G ENSG00000152520 ENST00000380958 Transcript missense_variant 232/2833 80/2664 27/887 V/G gTg/gGg 1 1 PAN3 HGNC HGNC:29991 protein_coding YES CCDS9329.2 ENSP00000370345 Q58A45 UPI0001BE8112 NM_175854.7 tolerated_low_confidence(0.16) benign(0.005) 1/19 Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 28138737 FLT1 . GRCh38 chr13 28494781 28494781 + Splice_Region SNP T T G novel 7316-101 BS_C4BTBM7G T T c.63A>C p.Thr21= p.T21= ENST00000282397 1/30 88 74 10 44 42 0 FLT1,splice_region_variant,p.Thr21=,ENST00000282397,NM_002019.4;FLT1,splice_region_variant,p.Thr21=,ENST00000615840,NM_001159920.1;FLT1,splice_region_variant,p.Thr21=,ENST00000639477,;FLT1,splice_region_variant,p.Thr21=,ENST00000541932,NM_001160030.1;FLT1,splice_region_variant,p.Thr21=,ENST00000539099,NM_001160031.1;AL139005.1,upstream_gene_variant,,ENST00000623899,;,regulatory_region_variant,,ENSR00000060438,; G ENSG00000102755 ENST00000282397 Transcript splice_region_variant,synonymous_variant 315/7092 63/4017 21/1338 T acA/acC 1 -1 FLT1 HGNC HGNC:3763 protein_coding YES CCDS9330.1 ENSP00000282397 P17948 L7RSL3 UPI000013DCDD NM_002019.4 1/30 PIRSF_domain:PIRSF000615,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg LOW 1 SNV 1 1 PASS CTG . . 28494781 ZIC2 . GRCh38 chr13 99982754 99982756 + In_Frame_Del DEL CCA CCA - rs768295483 7316-101 BS_C4BTBM7G CCA CCA c.716_718del p.His239del p.H239del ENST00000376335 1/3 83 50 7 28 27 0 ZIC2,inframe_deletion,p.His239del,ENST00000376335,NM_007129.3;ZIC2,upstream_gene_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000477213,;ZIC2,upstream_gene_variant,,ENST00000481565,;ZIC2,upstream_gene_variant,,ENST00000490085,; - ENSG00000043355 ENST00000376335 Transcript inframe_deletion 983-985/2983 690-692/1599 230-231/532 AH/A gcCCAc/gcc rs768295483,COSM432052 1 1 ZIC2 HGNC HGNC:12873 protein_coding YES CCDS9495.1 ENSP00000365514 O95409 A0A024RDY6 UPI000013C3DC NM_007129.3 1/3 Low_complexity_(Seg):seg,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27 0,1 MODERATE 1 deletion 1 26 0,1 1 PASS GCCCAC . . 0.002607 0.003738 0.001189 0.001039 0.001974 0.006203 0.003037 0.001771 0.001699 99982753 IRS2 . GRCh38 chr13 109782740 109782740 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.3314T>G p.Val1105Gly p.V1105G ENST00000375856 1/2 82 71 6 45 44 0 IRS2,missense_variant,p.Val1105Gly,ENST00000375856,NM_003749.2;AL162497.1,upstream_gene_variant,,ENST00000615635,; C ENSG00000185950 ENST00000375856 Transcript missense_variant 3829/8138 3314/4017 1105/1338 V/G gTg/gGg 1 -1 IRS2 HGNC HGNC:6126 protein_coding YES CCDS9510.1 ENSP00000365016 Q9Y4H2 UPI000006E4A8 NM_003749.2 deleterious(0) benign(0.261) 1/2 PDB-ENSP_mappings:3fqw.C,PDB-ENSP_mappings:3fqx.C,hmmpanther:PTHR10614:SF7,hmmpanther:PTHR10614 MODERATE 1 SNV 1 1 PASS CAC . . 109782740 SOX1 . GRCh38 chr13 112068548 112068548 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.890T>G p.Val297Gly p.V297G ENST00000330949 1/1 30 18 7 35 32 0 SOX1,missense_variant,p.Val297Gly,ENST00000330949,NM_005986.2; G ENSG00000182968 ENST00000330949 Transcript missense_variant 902/2842 890/1176 297/391 V/G gTg/gGg 1 1 SOX1 HGNC HGNC:11189 protein_coding YES CCDS9523.1 ENSP00000330218 O00570 UPI0000190FB0 NM_005986.2 tolerated(0.42) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF40,Gene3D:1.10.30.10 MODERATE 1 SNV PASS GTG . . 112068548 MCF2L . GRCh38 chr13 113076155 113076155 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.1498A>C p.Met500Leu p.M500L ENST00000535094 12/30 83 73 9 37 37 0 MCF2L,missense_variant,p.Met533Leu,ENST00000397030,;MCF2L,missense_variant,p.Met498Leu,ENST00000375604,NM_024979.4,NM_001320815.1,NM_001320816.1;MCF2L,missense_variant,p.Met161Leu,ENST00000397017,;MCF2L,missense_variant,p.Met500Leu,ENST00000535094,NM_001112732.2;MCF2L,missense_variant,p.Met530Leu,ENST00000375608,;MCF2L,missense_variant,p.Met504Leu,ENST00000421756,;MCF2L,missense_variant,p.Met498Leu,ENST00000375597,NM_001320817.1;MCF2L,downstream_gene_variant,,ENST00000475524,; C ENSG00000126217 ENST00000535094 Transcript missense_variant,splice_region_variant 1657/3752 1498/3378 500/1125 M/L Atg/Ctg 1 1 MCF2L HGNC HGNC:14576 protein_coding YES CCDS45070.2 ENSP00000440374 O15068 UPI0001CE935F NM_001112732.2 tolerated(0.14) benign(0) 12/30 Gene3D:1.20.58.60,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115,cd00176 MODERATE 1 SNV 2 PASS CAT . . 113076155 AL136295.3 . GRCh38 chr14 24131562 24131562 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.583A>C p.Asn195Thr p.N195T ENST00000558325 4/4 82 61 13 47 45 0 AL136295.3,missense_variant,p.Asn195Thr,ENST00000558325,;FITM1,5_prime_UTR_variant,,ENST00000267426,NM_203402.2;PSME1,upstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;PSME1,upstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,upstream_gene_variant,,ENST00000559123,;FITM1,upstream_gene_variant,,ENST00000559294,;PSME1,upstream_gene_variant,,ENST00000561435,NM_001281528.1;PSME1,upstream_gene_variant,,ENST00000470718,;PSME1,upstream_gene_variant,,ENST00000561059,;PSME1,upstream_gene_variant,,ENST00000561142,;,regulatory_region_variant,,ENSR00000066829,; C ENSG00000259371 ENST00000558325 Transcript missense_variant 583/850 584/851 195/283 N/T aAc/aCc 1 1 AL136295.3 Clone_based_ensembl_gene protein_coding YES ENSP00000453089 H0YL77 UPI0004620A05 deleterious_low_confidence(0.01) benign(0.024) 4/4 MODERATE SNV 5 PASS AAC . . 24131562 NPAS3 . GRCh38 chr14 33800592 33800592 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.2285A>C p.Asn762Thr p.N762T ENST00000356141 12/12 65 52 12 40 38 0 NPAS3,missense_variant,p.Asn730Thr,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Asn732Thr,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Asn767Thr,ENST00000551492,;NPAS3,missense_variant,p.Asn762Thr,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Asn749Thr,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Asn736Thr,ENST00000551634,; C ENSG00000151322 ENST00000356141 Transcript missense_variant 2285/2802 2285/2802 762/933 N/T aAc/aCc 1 1 NPAS3 HGNC HGNC:19311 protein_coding YES CCDS53891.1 ENSP00000348460 Q8IXF0 X5D2Q4 UPI00000743C2 NM_001164749.1 tolerated_low_confidence(1) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF30 MODERATE 1 SNV 1 PASS AAC . . 33800592 TTC9 . GRCh38 chr14 70642130 70642130 + Translation_Start_Site SNP A A C novel 7316-101 BS_C4BTBM7G A A c.1A>C p.Met1? p.M1? ENST00000256367 1/3 62 49 8 42 40 0 TTC9,start_lost,p.Met1?,ENST00000256367,NM_015351.1;AL357153.1,upstream_gene_variant,,ENST00000500016,;AL357153.3,upstream_gene_variant,,ENST00000553982,;,regulatory_region_variant,,ENSR00000070323,; C ENSG00000133985 ENST00000256367 Transcript start_lost 344/5217 1/669 1/222 M/L Atg/Ctg 1 1 TTC9 HGNC HGNC:20267 protein_coding YES CCDS45132.1 ENSP00000256367 Q92623 A0A024R6B1 UPI00001C1F60 NM_015351.1 deleterious_low_confidence(0) benign(0.067) 1/3 mobidb-lite,hmmpanther:PTHR43811,hmmpanther:PTHR43811:SF2 HIGH 1 SNV 1 PASS AAT . . 70642130 IRF2BPL . GRCh38 chr14 77026223 77026223 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.1570A>C p.Thr524Pro p.T524P ENST00000238647 1/1 78 71 7 21 21 0 IRF2BPL,missense_variant,p.Thr524Pro,ENST00000238647,NM_024496.3;AC007686.3,upstream_gene_variant,,ENST00000619017,;,regulatory_region_variant,,ENSR00000071100,; G ENSG00000119669 ENST00000238647 Transcript missense_variant 2477/4157 1570/2391 524/796 T/P Acc/Ccc 1 -1 IRF2BPL HGNC HGNC:14282 protein_coding YES CCDS9854.1 ENSP00000238647 Q9H1B7 UPI00000738BA NM_024496.3 tolerated(0.41) possibly_damaging(0.534) 1/1 Gene3D:2.130.10.10,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF14,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV PASS GTC . . 77026223 BEGAIN . GRCh38 chr14 100546668 100546668 + Splice_Region SNP A A C novel 7316-101 BS_C4BTBM7G A A c.15-6T>G ENST00000443071 79 65 8 38 37 0 BEGAIN,splice_region_variant,,ENST00000355173,NM_020836.3;BEGAIN,splice_region_variant,,ENST00000443071,NM_001159531.1;BEGAIN,splice_region_variant,,ENST00000553553,;BEGAIN,splice_region_variant,,ENST00000554140,;BEGAIN,splice_region_variant,,ENST00000554356,;BEGAIN,splice_region_variant,,ENST00000556188,;BEGAIN,splice_region_variant,,ENST00000557378,;BEGAIN,splice_region_variant,,ENST00000637646,;BEGAIN,splice_region_variant,,ENST00000637716,;BEGAIN,splice_region_variant,,ENST00000554747,;BEGAIN,non_coding_transcript_exon_variant,,ENST00000556751,;BEGAIN,upstream_gene_variant,,ENST00000554274,;,regulatory_region_variant,,ENSR00000073150,; C ENSG00000183092 ENST00000443071 Transcript splice_region_variant,intron_variant 1 -1 BEGAIN HGNC HGNC:24163 protein_coding YES CCDS9962.1 ENSP00000411124 Q9BUH8 UPI00000710B1 NM_001159531.1 1/5 LOW 1 SNV 1 PASS AAC . . 100546668 DYNC1H1 . GRCh38 chr14 102048015 102048015 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.13205T>G p.Val4402Gly p.V4402G ENST00000360184 73/78 66 54 9 42 41 1 DYNC1H1,missense_variant,p.Val4402Gly,ENST00000360184,NM_001376.4;DYNC1H1,missense_variant,p.Val1698Gly,ENST00000645149,;DYNC1H1,missense_variant,p.Val1274Gly,ENST00000644881,;DYNC1H1,missense_variant,p.Val806Gly,ENST00000647204,;AL118558.1,intron_variant,,ENST00000553701,;AL118558.1,intron_variant,,ENST00000557242,;DYNC1H1,downstream_gene_variant,,ENST00000555102,;AL118558.1,upstream_gene_variant,,ENST00000557551,;DYNC1H1,missense_variant,p.Val243Gly,ENST00000645978,;DYNC1H1,3_prime_UTR_variant,,ENST00000645039,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000647366,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000644794,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000643437,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000643829,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000643591,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000643729,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000647143,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000645085,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000644239,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000555062,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000556229,;DYNC1H1,downstream_gene_variant,,ENST00000642716,;DYNC1H1,downstream_gene_variant,,ENST00000645697,;DYNC1H1,downstream_gene_variant,,ENST00000646418,;AL118558.1,downstream_gene_variant,,ENST00000646837,; G ENSG00000197102 ENST00000360184 Transcript missense_variant 13387/20003 13205/13941 4402/4646 V/G gTg/gGg 1 1 DYNC1H1 HGNC HGNC:2961 protein_coding YES CCDS9966.1 ENSP00000348965 Q14204 UPI00001B515A NM_001376.4 tolerated(0.36) benign(0.438) 73/78 PDB-ENSP_mappings:5nug.A,PDB-ENSP_mappings:5nug.B,Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF314 MODERATE 1 SNV 1 1 PASS GTG . . 102048015 AHNAK2 . GRCh38 chr14 104944467 104944467 + Missense_Mutation SNP C C G rs1202092878 7316-101 BS_C4BTBM7G C C c.10984G>C p.Asp3662His p.D3662H ENST00000333244 7/7 67 57 7 37 36 0 AHNAK2,missense_variant,p.Asp3662His,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 11104/18254 10984/17388 3662/5795 D/H Gat/Cat rs1202092878 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 deleterious(0) benign(0.099) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS TCC . . 104944467 KLF13 . GRCh38 chr15 31327544 31327544 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.332A>C p.Glu111Ala p.E111A ENST00000307145 1/2 65 46 5 25 24 0 KLF13,missense_variant,p.Glu111Ala,ENST00000307145,NM_015995.3;KLF13,upstream_gene_variant,,ENST00000558921,;,regulatory_region_variant,,ENSR00000074488,; C ENSG00000169926 ENST00000307145 Transcript missense_variant 690/6825 332/867 111/288 E/A gAa/gCa 1 1 KLF13 HGNC HGNC:13672 protein_coding YES CCDS10025.1 ENSP00000302456 Q9Y2Y9 X5DNR2 UPI000012DEDC NM_015995.3 tolerated(0.41) benign(0) 1/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GAA . . 31327544 PDCD7 . GRCh38 chr15 65133639 65133639 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.143T>G p.Phe48Cys p.F48C ENST00000204549 1/5 96 76 13 34 33 0 PDCD7,missense_variant,p.Phe48Cys,ENST00000204549,NM_005707.1;PDCD7,upstream_gene_variant,,ENST00000560313,;,regulatory_region_variant,,ENSR00000078048,; C ENSG00000090470 ENST00000204549 Transcript missense_variant 198/2851 143/1458 48/485 F/C tTt/tGt 1 -1 PDCD7 HGNC HGNC:8767 protein_coding YES CCDS10201.1 ENSP00000204549 Q8N8D1 Q6IEG3 UPI00000731D7 NM_005707.1 deleterious(0) benign(0.007) 1/5 hmmpanther:PTHR44604,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 65133639 IGDCC3 . GRCh38 chr15 65334748 65334748 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.803T>G p.Ile268Ser p.I268S ENST00000327987 5/14 67 57 9 35 34 0 IGDCC3,missense_variant,p.Ile268Ser,ENST00000327987,NM_004884.3;IGDCC3,missense_variant,p.Ile131Ser,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559058,;IGDCC3,upstream_gene_variant,,ENST00000559231,;,regulatory_region_variant,,ENSR00000078074,; C ENSG00000174498 ENST00000327987 Transcript missense_variant 1055/4479 803/2445 268/814 I/S aTt/aGt 1 -1 IGDCC3 HGNC HGNC:9700 protein_coding YES CCDS10205.1 ENSP00000332773 Q8IVU1 UPI000019908F NM_004884.3 deleterious(0) probably_damaging(0.91) 5/14 Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR44433,hmmpanther:PTHR44433:SF3,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd00096 MODERATE 1 SNV 1 PASS AAT . . 65334748 MCRIP2 . GRCh38 chr16 642216 642216 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.149T>G p.Phe50Cys p.F50C ENST00000307650 2/5 102 90 11 44 44 0 MCRIP2,missense_variant,p.Phe50Cys,ENST00000307650,NM_138418.2;MCRIP2,missense_variant,p.Phe50Cys,ENST00000629534,;MCRIP2,intron_variant,,ENST00000611328,;MCRIP2,upstream_gene_variant,,ENST00000615744,;MCRIP2,downstream_gene_variant,,ENST00000619114,;MCRIP2,downstream_gene_variant,,ENST00000619377,;MCRIP2,missense_variant,p.Phe50Cys,ENST00000491999,;MCRIP2,missense_variant,p.Phe50Cys,ENST00000474840,;MCRIP2,upstream_gene_variant,,ENST00000575894,;MCRIP2,upstream_gene_variant,,ENST00000619674,;MCRIP2,upstream_gene_variant,,ENST00000620462,;,regulatory_region_variant,,ENSR00000082219,; G ENSG00000172366 ENST00000307650 Transcript missense_variant 328/946 149/483 50/160 F/C tTt/tGt 1 1 MCRIP2 HGNC HGNC:14142 protein_coding YES CCDS10415.1 ENSP00000305138 Q9BUT9 UPI0000073123 NM_138418.2 tolerated(0.18) benign(0.028) 2/5 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR19890:SF9,hmmpanther:PTHR19890 MODERATE 1 SNV 1 PASS TTT . . 642216 CASKIN1 . GRCh38 chr16 2196431 2196431 + Translation_Start_Site SNP A A C novel 7316-101 BS_C4BTBM7G A A c.2T>G p.Met1? p.M1? ENST00000343516 1/20 40 24 14 31 29 0 CASKIN1,start_lost,p.Met1?,ENST00000343516,NM_020764.3;,regulatory_region_variant,,ENSR00000082453,; C ENSG00000167971 ENST00000343516 Transcript start_lost 95/5759 2/4296 1/1431 M/R aTg/aGg 1 -1 CASKIN1 HGNC HGNC:20879 protein_coding YES CCDS42103.1 ENSP00000345436 Q8WXD9 UPI0000073A3B NM_020764.3 deleterious(0) possibly_damaging(0.841) 1/20 Gene3D:1.25.40.20 HIGH 1 SNV 1 PASS CAT . . 2196431 NTN3 . GRCh38 chr16 2473936 2473936 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.1574A>C p.Tyr525Ser p.Y525S ENST00000293973 6/6 102 90 12 33 32 0 NTN3,missense_variant,p.Tyr525Ser,ENST00000293973,NM_006181.2;TBC1D24,upstream_gene_variant,,ENST00000293970,;TBC1D24,upstream_gene_variant,,ENST00000567020,NM_020705.2;TBC1D24,upstream_gene_variant,,ENST00000646147,NM_001199107.1;AC106820.4,upstream_gene_variant,,ENST00000561847,;TBC1D24,upstream_gene_variant,,ENST00000569874,;TBC1D24,upstream_gene_variant,,ENST00000630263,;,regulatory_region_variant,,ENSR00000279447,;,TF_binding_site_variant,,MA0139.1,; C ENSG00000162068 ENST00000293973 Transcript missense_variant 1777/1986 1574/1743 525/580 Y/S tAc/tCc 1 1 NTN3 HGNC HGNC:8030 protein_coding YES CCDS10469.1 ENSP00000293973 O00634 UPI000006ED30 NM_006181.2 deleterious(0) benign(0.212) 6/6 Low_complexity_(Seg):seg,PROSITE_profiles:PS50189,cd03579,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF292,Gene3D:2.40.50.120,Pfam_domain:PF01759,SMART_domains:SM00643,Superfamily_domains:SSF50242 MODERATE 1 SNV 1 PASS TAC . . 2473936 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-101 BS_C4BTBM7G T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 86 73 12 32 31 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 LINC00974 . GRCh38 chr17 41550870 41550870 + Splice_Region DEL A A - rs370635505 7316-101 BS_C4BTBM7G A A n.882-5del ENST00000456403 49 35 9 37 31 0 LINC00974,splice_region_variant,,ENST00000456403,; - ENSG00000226629 ENST00000456403 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs370635505 1 -1 LINC00974 HGNC HGNC:27105 lincRNA YES 2/2 LOW 1 deletion 2 PASS GCAA . . 41550869 SKOR2 . GRCh38 chr18 47247410 47247410 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.1774T>G p.Ser592Ala p.S592A ENST00000425639 2/9 52 43 8 31 31 0 SKOR2,missense_variant,p.Ser592Ala,ENST00000425639,;SKOR2,missense_variant,p.Ser592Ala,ENST00000620245,NM_001278063.1;SKOR2,intron_variant,,ENST00000400404,NM_001037802.1;,regulatory_region_variant,,ENSR00000102953,; C ENSG00000215474 ENST00000425639 Transcript missense_variant 2051/3899 1774/3048 592/1015 S/A Tct/Gct 1 -1 SKOR2 HGNC HGNC:32695 protein_coding YES CCDS74222.1 ENSP00000414750 A0A087X0E6 UPI0002742DD5 tolerated_low_confidence(0.56) benign(0) 2/9 hmmpanther:PTHR10005,hmmpanther:PTHR10005:SF7,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GAC . . 47247410 ZBTB7C . GRCh38 chr18 48040713 48040713 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.395A>C p.Asp132Ala p.D132A ENST00000588982 3/4 72 58 11 34 34 0 ZBTB7C,missense_variant,p.Asp132Ala,ENST00000588982,;ZBTB7C,missense_variant,p.Asp132Ala,ENST00000590800,NM_001318841.1;ZBTB7C,missense_variant,p.Asp132Ala,ENST00000586438,;ZBTB7C,missense_variant,p.Asp132Ala,ENST00000535628,NM_001039360.2;ZBTB7C,downstream_gene_variant,,ENST00000585404,;ZBTB7C,downstream_gene_variant,,ENST00000586047,;ZBTB7C,downstream_gene_variant,,ENST00000586525,;ZBTB7C,downstream_gene_variant,,ENST00000586743,;ZBTB7C,downstream_gene_variant,,ENST00000587107,;ZBTB7C,downstream_gene_variant,,ENST00000588028,;ZBTB7C,downstream_gene_variant,,ENST00000588053,;ZBTB7C,downstream_gene_variant,,ENST00000588149,;ZBTB7C,downstream_gene_variant,,ENST00000588566,;ZBTB7C,downstream_gene_variant,,ENST00000588970,;ZBTB7C,downstream_gene_variant,,ENST00000589077,;ZBTB7C,downstream_gene_variant,,ENST00000589170,;ZBTB7C,downstream_gene_variant,,ENST00000589194,;ZBTB7C,downstream_gene_variant,,ENST00000589619,;ZBTB7C,downstream_gene_variant,,ENST00000590178,;ZBTB7C,downstream_gene_variant,,ENST00000590374,;ZBTB7C,downstream_gene_variant,,ENST00000590437,;ZBTB7C,downstream_gene_variant,,ENST00000590855,;ZBTB7C,downstream_gene_variant,,ENST00000591279,;ZBTB7C,downstream_gene_variant,,ENST00000591405,;ZBTB7C,downstream_gene_variant,,ENST00000591526,;ZBTB7C,downstream_gene_variant,,ENST00000592387,;ZBTB7C,downstream_gene_variant,,ENST00000592656,;ZBTB7C,downstream_gene_variant,,ENST00000593159,; G ENSG00000184828 ENST00000588982 Transcript missense_variant 897/4949 395/1860 132/619 D/A gAc/gCc 1 -1 ZBTB7C HGNC HGNC:31700 protein_coding YES CCDS32830.1 ENSP00000468782 A1YPR0 B2RG49 UPI0000073FE3 tolerated(0.2) benign(0) 3/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44670,Gene3D:3.30.70.330,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS GTC . . 48040713 MLLT1 . GRCh38 chr19 6213931 6213931 + Splice_Region SNP A A C novel 7316-101 BS_C4BTBM7G A A c.1407+8T>G ENST00000252674 69 50 13 38 37 0 MLLT1,splice_region_variant,,ENST00000252674,NM_005934.3;MLLT1,splice_region_variant,,ENST00000585588,;MLLT1,upstream_gene_variant,,ENST00000587473,; C ENSG00000130382 ENST00000252674 Transcript splice_region_variant,intron_variant 1 -1 MLLT1 HGNC HGNC:7134 protein_coding YES CCDS12160.1 ENSP00000252674 Q03111 UPI000006F7B3 NM_005934.3 9/11 LOW 1 SNV 1 1 PASS CAG . . 6213931 MAN2B1 . GRCh38 chr19 12648200 12648200 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.2639A>C p.Asn880Thr p.N880T ENST00000456935 21/24 76 61 14 44 44 0 MAN2B1,missense_variant,p.Asn880Thr,ENST00000456935,NM_000528.3;MAN2B1,missense_variant,p.Asn879Thr,ENST00000221363,NM_001173498.1;MAN2B1,downstream_gene_variant,,ENST00000433513,;MAN2B1,upstream_gene_variant,,ENST00000480851,;MAN2B1,downstream_gene_variant,,ENST00000595880,;AC010422.3,missense_variant,p.Asn67Thr,ENST00000597692,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000466794,;MAN2B1,upstream_gene_variant,,ENST00000469423,;MAN2B1,upstream_gene_variant,,ENST00000493218,;MAN2B1,downstream_gene_variant,,ENST00000593686,;MAN2B1,downstream_gene_variant,,ENST00000596591,;,regulatory_region_variant,,ENSR00000107281,;RPL10P16,upstream_gene_variant,,ENST00000325000,; G ENSG00000104774 ENST00000456935 Transcript missense_variant 2680/3184 2639/3036 880/1011 N/T aAt/aCt 1 -1 MAN2B1 HGNC HGNC:6826 protein_coding YES CCDS32919.1 ENSP00000395473 O00754 UPI00000559EC NM_000528.3 tolerated(0.61) benign(0.009) 21/24 Pfam_domain:PF07748,hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF3,Superfamily_domains:SSF74650 MODERATE 1 SNV 1 1 PASS ATT . . 12648200 ZNF626 . GRCh38 chr19 20624947 20624947 + Missense_Mutation SNP T T A 7316-101 BS_C4BTBM7G T T c.930A>T p.Glu310Asp p.E310D ENST00000601440 4/4 56 43 6 49 45 0 ZNF626,missense_variant,p.Glu310Asp,ENST00000601440,NM_001076675.2;ZNF626,missense_variant,p.Glu310Asp,ENST00000612591,;ZNF626,downstream_gene_variant,,ENST00000595405,;AC010636.2,intron_variant,,ENST00000595094,; A ENSG00000188171 ENST00000601440 Transcript missense_variant 1077/5963 930/1587 310/528 E/D gaA/gaT COSM4744479 1 -1 ZNF626 HGNC HGNC:30461 protein_coding YES CCDS42535.1 ENSP00000469958 Q68DY1 UPI000035E843 NM_001076675.2 deleterious(0.04) benign(0.105) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF129,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS TTT . . 20624947 ZNF761 . GRCh38 chr19 53455686 53455686 + Missense_Mutation SNP C C G rs1412878137 7316-101 BS_C4BTBM7G C C c.1179C>G p.His393Gln p.H393Q ENST00000432094 5/5 52 42 8 46 44 0 ZNF761,missense_variant,p.His393Gln,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.His393Gln,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; G ENSG00000160336 ENST00000432094 Transcript missense_variant 1486/4061 1179/2241 393/746 H/Q caC/caG rs1412878137 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 tolerated(1) benign(0.003) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,hmmpanther:PTHR24377:SF330,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ACA . . 53455686 EBF4 . GRCh38 chr20 2693147 2693147 + Translation_Start_Site SNP T T G novel 7316-101 BS_C4BTBM7G T T c.2T>G p.Met1? p.M1? ENST00000380648 1/18 34 25 6 32 28 0 EBF4,start_lost,p.Met1?,ENST00000380648,NM_001110514.1;EBF4,intron_variant,,ENST00000342725,;EBF4,upstream_gene_variant,,ENST00000609451,;EBF4,intron_variant,,ENST00000497450,;EBF4,upstream_gene_variant,,ENST00000469215,;EBF4,start_lost,p.Met1?,ENST00000449079,;EBF4,upstream_gene_variant,,ENST00000609967,;,regulatory_region_variant,,ENSR00000133690,; G ENSG00000088881 ENST00000380648 Transcript start_lost,splice_region_variant 270/2910 2/1797 1/598 M/R aTg/aGg 1 1 EBF4 HGNC HGNC:29278 protein_coding YES CCDS46573.1 ENSP00000370022 E9PEI2 UPI00001C2038 NM_001110514.1 deleterious_low_confidence(0.03) benign(0) 1/18 HIGH 1 SNV 5 PASS ATG . . 2693147 ATRN . GRCh38 chr20 3471407 3471407 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.300A>C p.Glu100Asp p.E100D ENST00000262919 1/29 85 76 9 47 47 0 ATRN,missense_variant,p.Glu100Asp,ENST00000262919,NM_139321.2;ATRN,missense_variant,p.Glu100Asp,ENST00000446916,NM_139322.3,NM_001323332.1,NM_001207047.2;,regulatory_region_variant,,ENSR00000133777,; C ENSG00000088812 ENST00000262919 Transcript missense_variant 368/8633 300/4290 100/1429 E/D gaA/gaC 1 1 ATRN HGNC HGNC:885 protein_coding YES CCDS13053.1 ENSP00000262919 O75882 UPI000012661C NM_139321.2 tolerated(0.33) benign(0.003) 1/29 Gene3D:2.10.25.10,PROSITE_profiles:PS50026,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF223,SMART_domains:SM00181,cd00055 MODERATE 1 SNV 5 PASS AAT . . 3471407 GATA5 . GRCh38 chr20 62475239 62475239 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.283T>G p.Phe95Val p.F95V ENST00000252997 2/7 85 69 14 35 35 0 GATA5,missense_variant,p.Phe95Val,ENST00000252997,NM_080473.4;AL499627.2,upstream_gene_variant,,ENST00000606283,;,regulatory_region_variant,,ENSR00000139724,; C ENSG00000130700 ENST00000252997 Transcript missense_variant 345/2595 283/1194 95/397 F/V Ttc/Gtc 1 -1 GATA5 HGNC HGNC:15802 protein_coding YES CCDS13499.1 ENSP00000252997 Q9BWX5 UPI000012B10C NM_080473.4 tolerated(0.06) benign(0.182) 2/7 Low_complexity_(Seg):seg,mobidb-lite,Pfam_domain:PF05349,PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071:SF289,hmmpanther:PTHR10071 MODERATE 1 SNV 1 1 PASS AAA . . 62475239 GTPBP6 . GRCh38 chrX 318651 318651 + Missense_Mutation SNP T T G novel 7316-101 BS_C4BTBM7G T T c.137A>C p.Asn46Thr p.N46T ENST00000326153 1/10 76 51 18 38 38 0 GTPBP6,missense_variant,p.Asn46Thr,ENST00000326153,NM_012227.3;LINC00685,upstream_gene_variant,,ENST00000391707,;,regulatory_region_variant,,ENSR00000243689,; G ENSG00000178605 ENST00000326153 Transcript missense_variant 169/1907 137/1551 46/516 N/T aAt/aCt 1 -1 GTPBP6 HGNC HGNC:30189 protein_coding YES CCDS75943.1 ENSP00000316598 O43824 UPI00043B9035 NM_012227.3 tolerated(0.6) unknown(0) 1/10 mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 318651 MT-ND5 . GRCh38 chrM 13050 13050 + Missense_Mutation SNP A A C novel 7316-101 BS_C4BTBM7G A A c.714A>C p.Glu238Asp p.E238D ENST00000361567 1/1 92 65 22 3856 3773 18 MT-ND5,missense_variant,p.Glu238Asp,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,; C ENSG00000198786 ENST00000361567 Transcript missense_variant 714/1812 714/1812 238/603 E/D gaA/gaC 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D deleterious_low_confidence(0) probably_damaging(0.994) 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF00361,Prints_domain:PR01434,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974 MODERATE 1 SNV 1 PASS AAG . . 13050 PRAMEF1 . GRCh38 chr1 12795861 12795861 + Missense_Mutation SNP C C G rs61775053 7316-359 BS_6Y9AK5F8 C C c.1290C>G p.Phe430Leu p.F430L ENST00000332296 4/4 80 61 18 33 33 0 PRAMEF1,missense_variant,p.Phe430Leu,ENST00000332296,NM_023013.4;PRAMEF1,non_coding_transcript_exon_variant,,ENST00000400814,NM_001294139.1; G ENSG00000116721 ENST00000332296 Transcript missense_variant 1393/2160 1290/1425 430/474 F/L ttC/ttG rs61775053,COSM4142322,COSM4142321,COSM4142320 1 1 PRAMEF1 HGNC HGNC:28840 protein_coding YES CCDS148.1 ENSP00000332134 O95521 UPI0004620BB8 NM_023013.4 tolerated(1) probably_damaging(0.99) 4/4 PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS TCA . . 0.4442 0.1595 0.4632 0.4606 0.4793 0.4923 0.459 0.4425 0.4293 12795861 RPS6KA1 . GRCh38 chr1 26558848 26558848 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.1153T>G p.Phe385Val p.F385V ENST00000531382 13/21 77 59 16 31 30 0 RPS6KA1,missense_variant,p.Phe376Val,ENST00000374168,NM_002953.3;RPS6KA1,missense_variant,p.Phe365Val,ENST00000374166,;RPS6KA1,missense_variant,p.Phe360Val,ENST00000530003,NM_001330441.1;RPS6KA1,missense_variant,p.Phe284Val,ENST00000526792,;RPS6KA1,missense_variant,p.Phe385Val,ENST00000531382,NM_001006665.1;RPS6KA1,missense_variant,p.Phe34Val,ENST00000403732,;RPS6KA1,downstream_gene_variant,,ENST00000529454,;MIR1976,downstream_gene_variant,,ENST00000459548,;RPS6KA1,downstream_gene_variant,,ENST00000488985,;RPS6KA1,3_prime_UTR_variant,,ENST00000374163,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000531113,;RPS6KA1,downstream_gene_variant,,ENST00000474934,;RPS6KA1,downstream_gene_variant,,ENST00000527264,; G ENSG00000117676 ENST00000531382 Transcript missense_variant 1202/2359 1153/2235 385/744 F/V Ttc/Gtc 1 1 RPS6KA1 HGNC HGNC:10430 protein_coding YES CCDS30649.1 ENSP00000435412 Q15418 UPI000046D37A NM_001006665.1 deleterious(0) probably_damaging(0.969) 13/21 Pfam_domain:PF00433,PIRSF_domain:PIRSF000606,PROSITE_profiles:PS51285,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF43,SMART_domains:SM00133,Superfamily_domains:SSF56112,cd05582 MODERATE 1 SNV 2 PASS GTT . . 26558848 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 58 35 16 19 19 0 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 LRP8 . GRCh38 chr1 53327842 53327842 + Missense_Mutation SNP A A C rs1240872831 7316-359 BS_6Y9AK5F8 A A c.71T>G p.Leu24Arg p.L24R ENST00000306052 1/19 56 48 5 29 28 0 LRP8,missense_variant,p.Leu24Arg,ENST00000306052,NM_004631.4;LRP8,missense_variant,p.Leu24Arg,ENST00000371454,NM_001018054.2;LRP8,missense_variant,p.Leu24Arg,ENST00000354412,NM_017522.4;LRP8,missense_variant,p.Leu24Arg,ENST00000347547,NM_033300.3;LRP8,upstream_gene_variant,,ENST00000465675,;LINC01771,upstream_gene_variant,,ENST00000445039,;LRP8,missense_variant,p.Leu24Arg,ENST00000480045,;LRP8,upstream_gene_variant,,ENST00000496580,;,regulatory_region_variant,,ENSR00000006507,; C ENSG00000157193 ENST00000306052 Transcript missense_variant 173/7648 71/2892 24/963 L/R cTg/cGg rs1240872831 1 -1 LRP8 HGNC HGNC:6700 protein_coding YES CCDS578.1 ENSP00000303634 Q14114 UPI00001AF338 NM_004631.4 tolerated_low_confidence(0.07) benign(0) 1/19 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS CAG . . 1.335e-05 0.0002464 53327842 FOXD3 . GRCh38 chr1 63323092 63323092 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.34A>C p.Met12Leu p.M12L ENST00000371116 1/1 104 82 13 32 31 1 FOXD3,missense_variant,p.Met12Leu,ENST00000371116,NM_012183.2;MIR6068,downstream_gene_variant,,ENST00000615405,;FOXD3-AS1,intron_variant,,ENST00000427268,;FOXD3-AS1,intron_variant,,ENST00000431294,;FOXD3-AS1,upstream_gene_variant,,ENST00000418244,;FOXD3-AS1,upstream_gene_variant,,ENST00000426393,;FOXD3-AS1,upstream_gene_variant,,ENST00000449386,;,regulatory_region_variant,,ENSR00000007676,; C ENSG00000187140 ENST00000371116 Transcript missense_variant 52/2086 34/1437 12/478 M/L Atg/Ctg 1 1 FOXD3 HGNC HGNC:3804 protein_coding YES CCDS624.1 ENSP00000360157 Q9UJU5 UPI000012ADCB NM_012183.2 deleterious(0) benign(0.003) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF162,mobidb-lite MODERATE SNV 1 PASS CAT . . 63323092 CACNA1E . GRCh38 chr1 181413575 181413575 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.429A>C p.Glu143Asp p.E143D ENST00000524607 2/12 69 50 14 33 33 0 CACNA1E,missense_variant,p.Glu143Asp,ENST00000524607,; C ENSG00000198216 ENST00000524607 Transcript missense_variant 877/2198 429/1750 143/583 E/D gaA/gaC 1 1 CACNA1E HGNC HGNC:1392 protein_coding ENSP00000432038 E9PIE8 UPI000D1980C4 deleterious_low_confidence(0.01) probably_damaging(0.99) 2/12 MODERATE 1 SNV 5 PASS AAT . . 181413575 RHOU . GRCh38 chr1 228735770 228735770 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.28T>G p.Phe10Val p.F10V ENST00000366691 1/3 79 64 12 35 35 0 RHOU,missense_variant,p.Phe10Val,ENST00000366691,NM_021205.5;,regulatory_region_variant,,ENSR00000021350,; G ENSG00000116574 ENST00000366691 Transcript missense_variant 694/4372 28/777 10/258 F/V Ttc/Gtc 1 1 RHOU HGNC HGNC:17794 protein_coding YES CCDS1575.1 ENSP00000355652 Q7L0Q8 A0A024R3Q7 UPI0000073CDF NM_021205.5 tolerated_low_confidence(0.45) benign(0) 1/3 mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 228735770 IRF2BP2 . GRCh38 chr1 234608840 234608840 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.655A>C p.Thr219Pro p.T219P ENST00000366609 1/2 79 66 9 28 27 1 IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366609,NM_182972.2;IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366610,NM_001077397.1;AL160408.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;,regulatory_region_variant,,ENSR00000257385,; G ENSG00000168264 ENST00000366609 Transcript missense_variant 686/4663 655/1764 219/587 T/P Acc/Ccc 1 -1 IRF2BP2 HGNC HGNC:21729 protein_coding YES CCDS1602.1 ENSP00000355568 Q7Z5L9 UPI000004FA32 NM_182972.2 tolerated(0.33) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18 MODERATE 1 SNV 1 1 PASS GTT . . 234608840 MYCN . GRCh38 chr2 15942462 15942462 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.398A>C p.Lys133Thr p.K133T ENST00000281043 2/3 94 83 9 33 32 0 MYCN,missense_variant,p.Lys133Thr,ENST00000281043,NM_001293233.1,NM_001293228.1,NM_005378.5;MYCN,intron_variant,,ENST00000638417,NM_001293231.1;MYCNOS,upstream_gene_variant,,ENST00000419083,;MYCNOS,upstream_gene_variant,,ENST00000641263,;MYCNOS,upstream_gene_variant,,ENST00000641387,;MYCNOS,upstream_gene_variant,,ENST00000641534,;MYCNOS,upstream_gene_variant,,ENST00000641950,;,regulatory_region_variant,,ENSR00000289888,; C ENSG00000134323 ENST00000281043 Transcript missense_variant 695/2602 398/1395 133/464 K/T aAg/aCg 1 1 MYCN HGNC HGNC:7559 protein_coding YES CCDS1687.1 ENSP00000281043 P04198 UPI000012FAF8 NM_001293233.1,NM_001293228.1,NM_005378.5 deleterious(0) probably_damaging(0.975) 2/3 mobidb-lite,hmmpanther:PTHR11514,hmmpanther:PTHR11514:SF3,Pfam_domain:PF01056,PIRSF_domain:PIRSF001705 MODERATE SNV 5 1 PASS AAG . . 15942462 KIAA1211L . GRCh38 chr2 98822652 98822652 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.1621A>C p.Lys541Gln p.K541Q ENST00000397899 7/10 100 89 8 29 25 0 KIAA1211L,missense_variant,p.Lys541Gln,ENST00000397899,NM_207362.2;KIAA1211L,downstream_gene_variant,,ENST00000423771,;KIAA1211L,downstream_gene_variant,,ENST00000462314,;KIAA1211L,upstream_gene_variant,,ENST00000464413,;,regulatory_region_variant,,ENSR00000120511,; G ENSG00000196872 ENST00000397899 Transcript missense_variant 1953/3907 1621/2889 541/962 K/Q Aag/Cag 1 -1 KIAA1211L HGNC HGNC:33454 protein_coding YES CCDS42720.1 ENSP00000380996 Q6NV74 UPI0000E59245 NM_207362.2 tolerated(0.33) benign(0.219) 7/10 hmmpanther:PTHR45017,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTG . . 98822652 TBC1D8 . GRCh38 chr2 101151153 101151153 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.101A>C p.His34Pro p.H34P ENST00000409318 1/20 67 55 10 26 25 0 TBC1D8,missense_variant,p.His34Pro,ENST00000409318,;TBC1D8,missense_variant,p.His34Pro,ENST00000376840,NM_001102426.1;TBC1D8-AS1,upstream_gene_variant,,ENST00000610202,;TBC1D8,intron_variant,,ENST00000463469,;,regulatory_region_variant,,ENSR00000120770,; G ENSG00000204634 ENST00000409318 Transcript missense_variant 232/3803 101/3468 34/1155 H/P cAc/cCc 1 -1 TBC1D8 HGNC HGNC:17791 protein_coding YES CCDS82486.1 ENSP00000386856 J3KQ40 UPI0001E8F205 deleterious(0) benign(0.33) 1/20 Low_complexity_(Seg):seg MODERATE SNV 5 PASS GTG . . 101151153 EVX2 . GRCh38 chr2 176080397 176080397 + Missense_Mutation SNP T T G rs1477849960 7316-359 BS_6Y9AK5F8 T T c.1141A>C p.Ser381Arg p.S381R ENST00000308618 3/3 47 36 10 21 20 0 EVX2,missense_variant,p.Ser381Arg,ENST00000308618,NM_001080458.1;,regulatory_region_variant,,ENSR00000126735,;,TF_binding_site_variant,,MA0139.1,; G ENSG00000174279 ENST00000308618 Transcript missense_variant 1278/4203 1141/1431 381/476 S/R Agc/Cgc rs1477849960 1 -1 EVX2 HGNC HGNC:3507 protein_coding YES CCDS33333.1 ENSP00000312385 Q03828 UPI000012A2AF NM_001080458.1 deleterious_low_confidence(0.01) benign(0.001) 3/3 hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF404,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTG . . 176080397 RUBCN . GRCh38 chr3 197736698 197736698 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.22A>C p.Met8Leu p.M8L ENST00000296343 1/20 74 57 13 27 26 0 RUBCN,missense_variant,p.Met8Leu,ENST00000296343,NM_014687.2;RUBCN,missense_variant,p.Met8Leu,ENST00000449205,;RUBCN,5_prime_UTR_variant,,ENST00000474214,;RUBCN,intron_variant,,ENST00000273582,NM_001145642.3;FYTTD1,upstream_gene_variant,,ENST00000428738,;RUBCN,intron_variant,,ENST00000467303,;,regulatory_region_variant,,ENSR00000164602,; G ENSG00000145016 ENST00000296343 Transcript missense_variant 22/2919 22/2919 8/972 M/L Atg/Ctg 1 -1 RUBCN HGNC HGNC:28991 protein_coding YES CCDS43195.1 ENSP00000296343 Q92622 UPI00001C1DE4 NM_014687.2 tolerated_low_confidence(0.14) benign(0.003) 1/20 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS ATT . . 197736698 SH3BP2 . GRCh38 chr4 2818372 2818372 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.149T>G p.Met50Arg p.M50R ENST00000503393 1/13 76 64 9 35 33 1 SH3BP2,missense_variant,p.Met50Arg,ENST00000503393,NM_001145856.1;SH3BP2,5_prime_UTR_variant,,ENST00000511747,;SH3BP2,intron_variant,,ENST00000435136,;SH3BP2,intron_variant,,ENST00000442312,NM_001145855.1;SH3BP2,intron_variant,,ENST00000452765,NM_001122681.1;SH3BP2,intron_variant,,ENST00000502260,;SH3BP2,intron_variant,,ENST00000503219,;SH3BP2,intron_variant,,ENST00000504294,;SH3BP2,intron_variant,,ENST00000508385,;SH3BP2,intron_variant,,ENST00000512014,;SH3BP2,intron_variant,,ENST00000513095,;SH3BP2,upstream_gene_variant,,ENST00000356331,NM_003023.4;SH3BP2,downstream_gene_variant,,ENST00000508338,;SH3BP2,intron_variant,,ENST00000510074,;SH3BP2,intron_variant,,ENST00000511185,;SH3BP2,intron_variant,,ENST00000511237,;SH3BP2,intron_variant,,ENST00000511663,;SH3BP2,intron_variant,,ENST00000512131,;SH3BP2,intron_variant,,ENST00000513020,;SH3BP2,upstream_gene_variant,,ENST00000506932,;SH3BP2,upstream_gene_variant,,ENST00000509677,;SH3BP2,upstream_gene_variant,,ENST00000515737,;,regulatory_region_variant,,ENSR00000165000,; G ENSG00000087266 ENST00000503393 Transcript missense_variant 188/9158 149/1857 50/618 M/R aTg/aGg 1 1 SH3BP2 HGNC HGNC:10825 protein_coding YES CCDS54716.1 ENSP00000422168 P78314 UPI00019638E3 NM_001145856.1 tolerated_low_confidence(0.07) benign(0.003) 1/13 MODERATE 1 SNV 1 1 PASS ATG . . 2818372 IRX1 . GRCh38 chr5 3596164 3596164 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.59A>C p.Tyr20Ser p.Y20S ENST00000302006 1/4 66 56 10 22 21 0 IRX1,missense_variant,p.Tyr20Ser,ENST00000302006,NM_024337.3;AC016595.1,downstream_gene_variant,,ENST00000559410,; C ENSG00000170549 ENST00000302006 Transcript missense_variant 111/1858 59/1443 20/480 Y/S tAc/tCc 1 1 IRX1 HGNC HGNC:14358 protein_coding YES CCDS34132.1 ENSP00000305244 P78414 UPI00001B6455 NM_024337.3 deleterious(0.01) probably_damaging(0.991) 1/4 hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211 MODERATE 1 SNV 1 PASS TAC . . 3596164 FBXL17 . GRCh38 chr5 108381012 108381014 + In_Frame_Del DEL CCG CCG - rs906102490 7316-359 BS_6Y9AK5F8 CCG CCG c.678_680del p.Gly231del p.G231del ENST00000542267 1/9 67 51 5 27 23 0 FBXL17,inframe_deletion,p.Gly231del,ENST00000542267,NM_001163315.2;FBXL17,5_prime_UTR_variant,,ENST00000359660,;FBXL17,intron_variant,,ENST00000619412,;FBXL17,upstream_gene_variant,,ENST00000518486,;,regulatory_region_variant,,ENSR00000184969,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0162.2,; - ENSG00000145743 ENST00000542267 Transcript inframe_deletion 1085-1087/5188 678-680/2106 226-227/701 GG/G ggCGGt/ggt rs906102490 1 -1 FBXL17 HGNC HGNC:13615 protein_coding YES CCDS54886.1 ENSP00000437464 Q9UF56 UPI00019B21FB NM_001163315.2 1/9 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 deletion 1 PASS CACCGC . . 108381011 RAD50 . GRCh38 chr5 132595760 132595760 + Frame_Shift_Del DEL A A - rs772667708 7316-359 BS_6Y9AK5F8 A A c.2165del p.Lys722ArgfsTer14 p.K722Rfs*14 ENST00000378823 13/25 69 61 5 33 31 0 RAD50,frameshift_variant,p.Lys722ArgfsTer14,ENST00000378823,NM_005732.3;AC116366.3,frameshift_variant,p.Lys623ArgfsTer14,ENST00000640655,;AC116366.3,frameshift_variant,p.Lys623ArgfsTer14,ENST00000638568,;AC116366.3,frameshift_variant,p.Lys623ArgfsTer14,ENST00000638452,;RAD50,frameshift_variant,,ENST00000453394,;RAD50,downstream_gene_variant,,ENST00000434288,;AC116366.3,non_coding_transcript_exon_variant,,ENST00000638504,;RAD50,non_coding_transcript_exon_variant,,ENST00000496204,;RAD50,3_prime_UTR_variant,,ENST00000533482,;RAD50,3_prime_UTR_variant,,ENST00000423956,;AC116366.3,non_coding_transcript_exon_variant,,ENST00000639899,; - ENSG00000113522 ENST00000378823 Transcript frameshift_variant 2544/8306 2157/3939 719/1312 L/X ctA/ct rs772667708,COSM163909,COSM1433046,COSM1433045 1 1 RAD50 HGNC HGNC:9816 protein_coding YES CCDS34233.1 ENSP00000368100 Q92878 UPI000006E9ED NM_005732.3 13/25 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51131,hmmpanther:PTHR18867,TIGRFAM_domain:TIGR00606,Gene3D:1.10.287.510,Superfamily_domains:SSF75712 0,1,1,1 HIGH 1 deletion 1 8 0,1,1,1 1 PASS CTAA . . 0.0001362 0.0001045 0.0001211 0.0005871 0.0001496 0.0001929 132595759 FOXC1 . GRCh38 chr6 1611312 1611312 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.867T>G p.Asp289Glu p.D289E ENST00000380874 1/1 69 57 10 35 31 0 FOXC1,missense_variant,p.Asp289Glu,ENST00000380874,;FOXC1,missense_variant,p.Asp289Glu,ENST00000645831,NM_001453.2;,regulatory_region_variant,,ENSR00000191970,; G ENSG00000054598 ENST00000380874 Transcript missense_variant 1341/3926 867/1662 289/553 D/E gaT/gaG 1 1 FOXC1 HGNC HGNC:3800 protein_coding YES CCDS4473.1 ENSP00000370256 Q12948 W6CJ52 UPI000012ADC5 tolerated(1) benign(0) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF166,mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 1611312 SRF . GRCh38 chr6 43171796 43171796 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.140A>C p.Asn47Thr p.N47T ENST00000265354 1/7 72 62 9 27 25 1 SRF,missense_variant,p.Asn47Thr,ENST00000265354,NM_001292001.1,NM_003131.3;,regulatory_region_variant,,ENSR00000197100,; C ENSG00000112658 ENST00000265354 Transcript missense_variant 498/4202 140/1527 47/508 N/T aAt/aCt 1 1 SRF HGNC HGNC:11291 protein_coding YES CCDS4889.1 ENSP00000265354 P11831 A0A024RD16 UPI0000135F3B NM_001292001.1,NM_003131.3 deleterious_low_confidence(0) benign(0.007) 1/7 mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 43171796 SEC63 . GRCh38 chr6 107921916 107921918 + Splice_Region DEL AAA AAA - rs565045172 7316-359 BS_6Y9AK5F8 AAA AAA c.340-9_340-7del ENST00000369002 57 43 10 44 35 0 SEC63,splice_region_variant,,ENST00000369002,NM_007214.4;SEC63,splice_region_variant,,ENST00000429168,;SEC63,splice_region_variant,,ENST00000484803,;SEC63,downstream_gene_variant,,ENST00000446496,; - ENSG00000025796 ENST00000369002 Transcript splice_region_variant,intron_variant rs565045172 1 -1 SEC63 HGNC HGNC:21082 protein_coding YES CCDS5061.1 ENSP00000357998 Q9UGP8 A0A0S2Z5M1 UPI000000DBBB NM_007214.4 3/20 0.1220 0.0756 0.1643 0.1091 0.1362 0.1534 benign LOW 1 deletion 1 1 1 PASS GGAAAA . . 107921915 METTL24 . GRCh38 chr6 110358049 110358049 + Missense_Mutation SNP T T G rs1374526306 7316-359 BS_6Y9AK5F8 T T c.224A>C p.Tyr75Ser p.Y75S ENST00000338882 1/5 76 64 8 24 24 0 METTL24,missense_variant,p.Tyr75Ser,ENST00000338882,NM_001123364.1;METTL24,upstream_gene_variant,,ENST00000490043,;,regulatory_region_variant,,ENSR00000201042,; G ENSG00000053328 ENST00000338882 Transcript missense_variant 224/1119 224/1101 75/366 Y/S tAc/tCc rs1374526306 1 -1 METTL24 HGNC HGNC:21566 protein_coding YES CCDS43489.1 ENSP00000344071 Q5JXM2 UPI0000470C21 NM_001123364.1 tolerated(0.18) possibly_damaging(0.829) 1/5 hmmpanther:PTHR32026,hmmpanther:PTHR32026:SF10,mobidb-lite MODERATE 1 SNV 5 PASS GTA . . 110358049 SLC35F1 . GRCh38 chr6 117907887 117907887 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.161A>C p.Lys54Thr p.K54T ENST00000360388 1/8 87 72 9 29 29 0 SLC35F1,missense_variant,p.Lys54Thr,ENST00000360388,NM_001029858.3;,regulatory_region_variant,,ENSR00000201767,; C ENSG00000196376 ENST00000360388 Transcript missense_variant 362/4852 161/1227 54/408 K/T aAa/aCa 1 1 SLC35F1 HGNC HGNC:21483 protein_coding YES CCDS34524.1 ENSP00000353557 Q5T1Q4 UPI00001609C1 NM_001029858.3 tolerated(0.13) benign(0.265) 1/8 hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF10 MODERATE 1 SNV 1 PASS AAA . . 117907887 ARID1B . GRCh38 chr6 156778104 156778104 + Missense_Mutation SNP A A C rs1392648169 7316-359 BS_6Y9AK5F8 A A c.175A>C p.Met59Leu p.M59L ENST00000346085 1/20 63 49 10 36 32 1 ARID1B,missense_variant,p.Met59Leu,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Met59Leu,ENST00000636930,;ARID1B,missense_variant,p.Met59Leu,ENST00000350026,NM_017519.2;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000604082,;MIR4466,downstream_gene_variant,,ENST00000606121,;AL355297.4,intron_variant,,ENST00000603191,;AL355297.2,downstream_gene_variant,,ENST00000604792,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; C ENSG00000049618 ENST00000346085 Transcript missense_variant 731/10194 175/6750 59/2249 M/L Atg/Ctg rs1392648169 1 1 ARID1B HGNC HGNC:18040 protein_coding YES CCDS55072.1 ENSP00000344546 Q8NFD5 UPI000058E4B2 NM_020732.3 deleterious_low_confidence(0) possibly_damaging(0.658) 1/20 mobidb-lite,hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:3.40.50.1980 MODERATE 1 SNV 1 1 PASS CAT . . 2.272e-05 0.0001262 156778104 PRR18 . GRCh38 chr6 166307545 166307545 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.598A>C p.Thr200Pro p.T200P ENST00000322583 1/1 87 75 12 36 35 1 PRR18,missense_variant,p.Thr200Pro,ENST00000322583,NM_175922.3;PRR18,downstream_gene_variant,,ENST00000529616,; G ENSG00000176381 ENST00000322583 Transcript missense_variant 839/3084 598/888 200/295 T/P Acc/Ccc 1 -1 PRR18 HGNC HGNC:28574 protein_coding YES CCDS5291.1 ENSP00000319590 Q8N4B5 UPI0000140E82 NM_175922.3 tolerated(0.16) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR10994:SF127,hmmpanther:PTHR10994,Pfam_domain:PF15671 MODERATE 1 SNV PASS GTG . . 166307545 EIF3B . GRCh38 chr7 2355077 2355077 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.156T>G p.Ser52Arg p.S52R ENST00000360876 1/19 78 62 9 36 32 0 EIF3B,missense_variant,p.Ser52Arg,ENST00000360876,NM_001037283.1;EIF3B,missense_variant,p.Ser52Arg,ENST00000397011,NM_003751.3;EIF3B,missense_variant,p.Ser52Arg,ENST00000413917,;EIF3B,intron_variant,,ENST00000431643,;SNX8,upstream_gene_variant,,ENST00000435336,;SNX8,upstream_gene_variant,,ENST00000447136,;,regulatory_region_variant,,ENSR00000207760,; G ENSG00000106263 ENST00000360876 Transcript missense_variant 212/3055 156/2445 52/814 S/R agT/agG 1 1 EIF3B HGNC HGNC:3280 protein_coding YES CCDS5332.1 ENSP00000354125 P55884 A0A024R821 UPI000013F934 NM_001037283.1 deleterious_low_confidence(0.04) benign(0) 1/19 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS GTG . . 2355077 SRRM3 . GRCh38 chr7 76281495 76281495 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.1063A>C p.Thr355Pro p.T355P ENST00000611745 12/15 37 27 8 33 33 0 SRRM3,missense_variant,p.Thr355Pro,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,downstream_gene_variant,,ENST00000479284,;SRRM3,upstream_gene_variant,,ENST00000612155,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 1270/3612 1063/1962 355/653 T/P Acg/Ccg 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 tolerated(0.09) probably_damaging(0.934) 12/15 hmmpanther:PTHR45041,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAC . . 76281495 CCDC71L . GRCh38 chr7 106660317 106660317 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.580A>C p.Ile194Leu p.I194L ENST00000523505 1/1 62 46 13 30 30 0 CCDC71L,missense_variant,p.Ile194Leu,ENST00000523505,NM_175884.4;CCDC71L,missense_variant,p.His178Pro,ENST00000315965,;AC004917.1,intron_variant,,ENST00000490856,;AC004917.1,intron_variant,,ENST00000592441,;,regulatory_region_variant,,ENSR00000216494,; G ENSG00000253276 ENST00000523505 Transcript missense_variant 680/4232 580/708 194/235 I/L Atc/Ctc 1 -1 CCDC71L HGNC HGNC:26685 protein_coding YES CCDS55151.1 ENSP00000430897 Q8N9Z2 UPI00003CF1DF NM_175884.4 deleterious_low_confidence(0.01) benign(0.091) 1/1 hmmpanther:PTHR14484,hmmpanther:PTHR14484:SF1 MODERATE 1 SNV PASS ATG . . 106660317 CCDC71L . GRCh38 chr7 106660383 106660383 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.514T>G p.Phe172Val p.F172V ENST00000523505 1/1 66 51 10 29 27 0 CCDC71L,missense_variant,p.Phe172Val,ENST00000523505,NM_175884.4;CCDC71L,missense_variant,p.Leu156Arg,ENST00000315965,;AC004917.1,intron_variant,,ENST00000490856,;AC004917.1,intron_variant,,ENST00000592441,;,regulatory_region_variant,,ENSR00000216494,; C ENSG00000253276 ENST00000523505 Transcript missense_variant 614/4232 514/708 172/235 F/V Ttc/Gtc 1 -1 CCDC71L HGNC HGNC:26685 protein_coding YES CCDS55151.1 ENSP00000430897 Q8N9Z2 UPI00003CF1DF NM_175884.4 deleterious_low_confidence(0) probably_damaging(0.917) 1/1 hmmpanther:PTHR14484,hmmpanther:PTHR14484:SF1 MODERATE 1 SNV PASS AAG . . 106660383 PAX4 . GRCh38 chr7 127611679 127611679 + Splice_Region DEL A A - rs772936097 7316-359 BS_6Y9AK5F8 A A c.748-3del ENST00000341640 58 44 7 38 32 0 PAX4,splice_region_variant,,ENST00000338516,;PAX4,splice_region_variant,,ENST00000341640,NM_006193.2;PAX4,splice_region_variant,,ENST00000378740,;PAX4,splice_region_variant,,ENST00000463946,;PAX4,splice_region_variant,,ENST00000639438,;PAX4,downstream_gene_variant,,ENST00000611453,;PAX4,3_prime_UTR_variant,,ENST00000483494,;PAX4,downstream_gene_variant,,ENST00000477423,; - ENSG00000106331 ENST00000341640 Transcript splice_region_variant,intron_variant rs772936097,TMP_ESP_7_127251733_127251733,COSM4430576,COSM1580374 1 -1 PAX4 HGNC HGNC:8618 protein_coding YES CCDS5797.1 ENSP00000339906 O43316 UPI000013C824 NM_006193.2 7/8 0.1495 0.1694 uncertain_significance 0,0,1,1 LOW 1 deletion 1 1,0,1,1 1 PASS CTAA . . 0.1214 0.06287 0.1566 0.1731 0.1085 0.111 0.1149 0.135 0.1528 127611678 PSKH2 . GRCh38 chr8 86069622 86069622 + Translation_Start_Site SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.1A>C p.Met1? p.M1? ENST00000276616 1/3 96 81 10 44 43 0 PSKH2,start_lost,p.Met1?,ENST00000276616,NM_033126.1;ATP6V0D2,intron_variant,,ENST00000521564,;ATP6V0D2,upstream_gene_variant,,ENST00000523635,;PSKH2,intron_variant,,ENST00000517981,;PSKH2,intron_variant,,ENST00000523010,;,regulatory_region_variant,,ENSR00000226609,; G ENSG00000147613 ENST00000276616 Transcript start_lost 76/1322 1/1158 1/385 M/L Atg/Ctg 1 -1 PSKH2 HGNC HGNC:18997 protein_coding YES CCDS6240.1 ENSP00000276616 Q96QS6 UPI000006F951 NM_033126.1 deleterious_low_confidence(0) benign(0.001) 1/3 HIGH 1 SNV 1 PASS ATA . . 86069622 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 87 71 14 32 31 0 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 GRINA . GRCh38 chr8 143991557 143991557 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.334A>C p.Asn112His p.N112H ENST00000313269 2/7 82 54 11 37 35 1 GRINA,missense_variant,p.Asn112His,ENST00000313269,NM_000837.1;GRINA,missense_variant,p.Asn112His,ENST00000395068,NM_001009184.1;GRINA,missense_variant,p.Asn112His,ENST00000529301,;GRINA,missense_variant,p.Asn36His,ENST00000534791,;GRINA,missense_variant,p.Asn2His,ENST00000533044,;PARP10,intron_variant,,ENST00000530478,;PARP10,upstream_gene_variant,,ENST00000525486,;PARP10,upstream_gene_variant,,ENST00000525879,;GRINA,upstream_gene_variant,,ENST00000527194,;PARP10,upstream_gene_variant,,ENST00000528136,;PARP10,upstream_gene_variant,,ENST00000528625,;PARP10,upstream_gene_variant,,ENST00000528914,;PARP10,upstream_gene_variant,,ENST00000529311,;PARP10,upstream_gene_variant,,ENST00000529842,;GRINA,downstream_gene_variant,,ENST00000530898,;PARP10,upstream_gene_variant,,ENST00000531537,;PARP10,upstream_gene_variant,,ENST00000531707,;PARP10,upstream_gene_variant,,ENST00000532311,;PARP10,upstream_gene_variant,,ENST00000532660,;PARP10,upstream_gene_variant,,ENST00000534737,;GRINA,non_coding_transcript_exon_variant,,ENST00000525513,;GRINA,non_coding_transcript_exon_variant,,ENST00000531992,;GRINA,upstream_gene_variant,,ENST00000533377,; C ENSG00000178719 ENST00000313269 Transcript missense_variant 612/1968 334/1116 112/371 N/H Aac/Cac 1 1 GRINA HGNC HGNC:4589 protein_coding YES CCDS34961.1 ENSP00000314380 Q7Z429 UPI000015A99B NM_000837.1 tolerated(0.18) probably_damaging(0.995) 2/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23291:SF16,hmmpanther:PTHR23291 MODERATE 1 SNV 5 PASS CAA . . 143991557 PAX5 . GRCh38 chr9 36923363 36923363 + Missense_Mutation SNP A A C 7316-359 BS_6Y9AK5F8 A A c.902T>G p.Ile301Ser p.I301S ENST00000358127 7/10 79 68 9 34 34 0 PAX5,missense_variant,p.Ile301Ser,ENST00000358127,NM_016734.2;PAX5,missense_variant,p.Ile301Ser,ENST00000377853,NM_001280548.1;PAX5,missense_variant,p.Ile301Ser,ENST00000377852,NM_001280547.1;PAX5,missense_variant,p.Ile258Ser,ENST00000414447,NM_001280554.1;PAX5,missense_variant,p.Ile193Ser,ENST00000522003,NM_001280556.1;PAX5,missense_variant,p.Ile301Ser,ENST00000377847,NM_001280552.1;PAX5,missense_variant,p.Ile258Ser,ENST00000520281,NM_001280553.1;PAX5,missense_variant,p.Ile235Ser,ENST00000446742,NM_001280555.1;PAX5,missense_variant,p.Ile193Ser,ENST00000523145,NM_001280551.1;PAX5,missense_variant,p.Ile128Ser,ENST00000524340,;PAX5,intron_variant,,ENST00000520154,NM_001280550.1;PAX5,intron_variant,,ENST00000522932,;PAX5,intron_variant,,ENST00000523241,NM_001280549.1;PAX5,non_coding_transcript_exon_variant,,ENST00000520083,;PAX5,intron_variant,,ENST00000377840,;PAX5,intron_variant,,ENST00000523493,; C ENSG00000196092 ENST00000358127 Transcript missense_variant 1056/8615 902/1176 301/391 I/S aTt/aGt COSM303865 1 -1 PAX5 HGNC HGNC:8619 protein_coding YES CCDS6607.1 ENSP00000350844 Q02548 UPI000013136C NM_016734.2 deleterious(0) benign(0.096) 7/10 Pfam_domain:PF12403,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF378 1 MODERATE 1 SNV 1 1 1 PASS AAT . . 36923363 GAS1 . GRCh38 chr9 86946778 86946778 + Translation_Start_Site SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.2T>G p.Met1? p.M1? ENST00000298743 1/1 87 66 15 34 33 0 GAS1,start_lost,p.Met1?,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;,regulatory_region_variant,,ENSR00000237164,; C ENSG00000180447 ENST00000298743 Transcript start_lost 412/2827 2/1038 1/345 M/R aTg/aGg 1 -1 GAS1 HGNC HGNC:4165 protein_coding YES CCDS6674.1 ENSP00000298743 P54826 UPI0000140B67 NM_002048.2 tolerated_low_confidence(0.07) benign(0.127) 1/1 Cleavage_site_(Signalp):SignalP-noTM HIGH SNV 1 PASS CAT . . 86946778 NELFB . GRCh38 chr9 137255461 137255461 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.96A>C p.Glu32Asp p.E32D ENST00000343053 1/13 74 57 16 30 27 1 NELFB,missense_variant,p.Glu32Asp,ENST00000343053,NM_015456.4;NELFB,missense_variant,p.Glu32Asp,ENST00000634710,;STPG3,downstream_gene_variant,,ENST00000388931,NM_001256699.1;STPG3,downstream_gene_variant,,ENST00000412566,NM_001004353.3;STPG3,downstream_gene_variant,,ENST00000611378,NM_001256700.1;STPG3,downstream_gene_variant,,ENST00000620243,NM_001256701.1;STPG3-AS1,upstream_gene_variant,,ENST00000612170,;STPG3,downstream_gene_variant,,ENST00000610325,;STPG3,downstream_gene_variant,,ENST00000620716,;STPG3,downstream_gene_variant,,ENST00000622761,;,regulatory_region_variant,,ENSR00000243170,; C ENSG00000188986 ENST00000343053 Transcript missense_variant 289/2698 96/1887 32/628 E/D gaA/gaC 1 1 NELFB HGNC HGNC:24324 protein_coding YES CCDS7040.2 ENSP00000339495 A0A0X1KG71 UPI000719A1CA NM_015456.4 tolerated_low_confidence(0.3) benign(0.067) 1/13 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 137255461 SLC18A3 . GRCh38 chr10 49610746 49610746 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.6A>C p.Glu2Asp p.E2D ENST00000374115 1/1 99 80 16 30 29 1 SLC18A3,missense_variant,p.Glu2Asp,ENST00000374115,NM_003055.2;CHAT,intron_variant,,ENST00000339797,NM_020984.3;CHAT,upstream_gene_variant,,ENST00000337653,NM_020549.4;CHAT,upstream_gene_variant,,ENST00000351556,NM_001142929.1,NM_001142934.1,NM_020985.3;CHAT,upstream_gene_variant,,ENST00000395559,NM_020986.3;CHAT,upstream_gene_variant,,ENST00000395562,NM_001142933.1;CHAT,upstream_gene_variant,,ENST00000460699,;CHAT,upstream_gene_variant,,ENST00000481336,;CHAT,upstream_gene_variant,,ENST00000466590,;,regulatory_region_variant,,ENSR00000027914,; C ENSG00000187714 ENST00000374115 Transcript missense_variant 446/2420 6/1599 2/532 E/D gaA/gaC 1 1 SLC18A3 HGNC HGNC:10936 protein_coding YES CCDS7231.1 ENSP00000363229 Q16572 UPI00001F98C1 NM_003055.2 tolerated_low_confidence(0.43) benign(0.074) 1/1 MODERATE SNV 1 PASS AAT . . 49610746 RTKN2 . GRCh38 chr10 62262824 62262824 + Splice_Region DEL A A - rs781147984 7316-359 BS_6Y9AK5F8 A A c.61-3del ENST00000373789 73 59 6 32 29 0 RTKN2,splice_region_variant,,ENST00000373789,NM_145307.3;RTKN2,splice_region_variant,,ENST00000395260,NM_001282941.1; - ENSG00000182010 ENST00000373789 Transcript splice_region_variant,intron_variant rs781147984,TMP_ESP_10_64022583_64022583,COSM5359802,COSM1580338 1 -1 RTKN2 HGNC HGNC:19364 protein_coding YES CCDS7263.1 ENSP00000362894 Q8IZC4 UPI000007413A NM_145307.3 1/11 0.03664 0.03769 0,0,1,1 LOW 1 deletion 1 0,0,1,1 PASS CTAA . . 0.02933 0.01694 0.05265 0.04137 0.02835 0.01449 0.02504 0.03441 0.04592 62262823 RIC8A . GRCh38 chr11 208856 208856 + Translation_Start_Site SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.2T>G p.Met1? p.M1? ENST00000325207 1/10 73 64 8 30 27 1 RIC8A,start_lost,p.Met1?,ENST00000526104,NM_001286134.1;RIC8A,start_lost,p.Met1?,ENST00000325207,NM_021932.5;RIC8A,start_lost,p.Met1?,ENST00000530889,;RIC8A,start_lost,p.Met1?,ENST00000528357,;RIC8A,start_lost,p.Met1?,ENST00000626818,;BET1L,upstream_gene_variant,,ENST00000325147,NM_016526.4;BET1L,upstream_gene_variant,,ENST00000332865,;BET1L,upstream_gene_variant,,ENST00000382762,NM_001098787.1;BET1L,upstream_gene_variant,,ENST00000410108,;BET1L,upstream_gene_variant,,ENST00000486280,;RIC8A,upstream_gene_variant,,ENST00000524854,;RIC8A,upstream_gene_variant,,ENST00000527468,;RIC8A,upstream_gene_variant,,ENST00000527696,;RIC8A,upstream_gene_variant,,ENST00000527728,;RIC8A,upstream_gene_variant,,ENST00000529275,;BET1L,upstream_gene_variant,,ENST00000529614,;MIR6743,upstream_gene_variant,,ENST00000611346,;AC069287.2,downstream_gene_variant,,ENST00000526963,;RIC8A,upstream_gene_variant,,ENST00000531541,;RIC8A,start_lost,p.Met1?,ENST00000526982,;RIC8A,non_coding_transcript_exon_variant,,ENST00000532373,;BET1L,upstream_gene_variant,,ENST00000479463,;RIC8A,upstream_gene_variant,,ENST00000526557,;RIC8A,upstream_gene_variant,,ENST00000527039,;RIC8A,upstream_gene_variant,,ENST00000530149,;RIC8A,upstream_gene_variant,,ENST00000532241,;,regulatory_region_variant,,ENSR00000035588,; G ENSG00000177963 ENST00000325207 Transcript start_lost 327/2702 2/1614 1/537 M/R aTg/aGg 1 1 RIC8A HGNC HGNC:29550 protein_coding YES CCDS7690.1 ENSP00000325941 Q9NPQ8 UPI0000037C19 NM_021932.5 deleterious(0) probably_damaging(0.988) 1/10 hmmpanther:PTHR12425,hmmpanther:PTHR12425:SF4 HIGH 1 SNV 1 PASS ATG . . 208856 ADM . GRCh38 chr11 10306550 10306550 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.467A>C p.Glu156Ala p.E156A ENST00000528655 3/3 89 73 15 20 18 1 ADM,missense_variant,p.Glu156Ala,ENST00000528655,;ADM,missense_variant,p.Glu156Ala,ENST00000278175,NM_001124.2;ADM,missense_variant,p.Glu88Ala,ENST00000530439,;ADM,missense_variant,p.Glu109Ala,ENST00000534464,;ADM,missense_variant,p.Glu156Ala,ENST00000525063,;ADM,downstream_gene_variant,,ENST00000524948,;ADM,downstream_gene_variant,,ENST00000526492,;ADM,downstream_gene_variant,,ENST00000528544,;AC080023.1,upstream_gene_variant,,ENST00000526906,;AMPD3,upstream_gene_variant,,ENST00000527261,;,regulatory_region_variant,,ENSR00000036712,; C ENSG00000148926 ENST00000528655 Transcript missense_variant 1084/1889 467/558 156/185 E/A gAg/gCg 1 1 ADM HGNC HGNC:259 protein_coding YES CCDS7801.1 ENSP00000436607 P35318 UPI00001255F0 deleterious(0.04) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR23414,hmmpanther:PTHR23414:SF3,Prints_domain:PR00801 MODERATE 1 SNV 1 PASS GAG . . 10306550 MYRF . GRCh38 chr11 61766163 61766163 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.340T>G p.Phe114Val p.F114V ENST00000278836 3/27 93 78 14 27 27 0 MYRF,missense_variant,p.Phe114Val,ENST00000278836,NM_001127392.2;MYRF,missense_variant,p.Phe105Val,ENST00000265460,NM_013279.3;TMEM258,downstream_gene_variant,,ENST00000535042,;MYRF,non_coding_transcript_exon_variant,,ENST00000537766,; G ENSG00000124920 ENST00000278836 Transcript missense_variant 436/5927 340/3456 114/1151 F/V Ttc/Gtc 1 1 MYRF HGNC HGNC:1181 protein_coding YES CCDS44622.1 ENSP00000278836 Q9Y2G1 UPI0000D45F7B NM_001127392.2 deleterious(0.04) benign(0.054) 3/27 mobidb-lite,hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16 MODERATE 1 SNV 1 PASS CTT . . 61766163 RASGRP2 . GRCh38 chr11 64741471 64741471 + Missense_Mutation SNP A A C rs1437764504 7316-359 BS_6Y9AK5F8 A A c.207T>G p.Asn69Lys p.N69K ENST00000354024 4/17 83 67 13 27 27 0 RASGRP2,missense_variant,p.Asn69Lys,ENST00000377494,;RASGRP2,missense_variant,p.Asn69Lys,ENST00000354024,NM_153819.1;RASGRP2,missense_variant,p.Asn69Lys,ENST00000394432,NM_001098671.1;RASGRP2,missense_variant,p.Asn69Lys,ENST00000377497,NM_001098670.1;RASGRP2,missense_variant,p.Asn69Lys,ENST00000394430,;RASGRP2,missense_variant,p.Asn69Lys,ENST00000431822,;RASGRP2,missense_variant,p.Asn69Lys,ENST00000377486,;RASGRP2,missense_variant,p.Asn69Lys,ENST00000377487,;RASGRP2,missense_variant,p.Asn69Lys,ENST00000430645,;RASGRP2,missense_variant,p.Asn69Lys,ENST00000377489,;RASGRP2,missense_variant,p.Phe46Val,ENST00000394429,;RASGRP2,missense_variant,p.Phe43Val,ENST00000394428,;RASGRP2,missense_variant,p.Asn69Lys,ENST00000377485,;PYGM,downstream_gene_variant,,ENST00000164139,NM_005609.2;PYGM,downstream_gene_variant,,ENST00000377432,NM_001164716.1;RASGRP2,downstream_gene_variant,,ENST00000419843,;RASGRP2,missense_variant,p.Phe43Val,ENST00000421556,NM_001318398.1;RASGRP2,missense_variant,p.Asn69Lys,ENST00000445445,;RASGRP2,missense_variant,p.Asn69Lys,ENST00000441258,;RASGRP2,upstream_gene_variant,,ENST00000464324,;RASGRP2,upstream_gene_variant,,ENST00000465852,;RASGRP2,downstream_gene_variant,,ENST00000480443,;PYGM,downstream_gene_variant,,ENST00000483742,;RASGRP2,upstream_gene_variant,,ENST00000494001,;RASGRP2,upstream_gene_variant,,ENST00000497441,; C ENSG00000068831 ENST00000354024 Transcript missense_variant 460/2310 207/1830 69/609 N/K aaT/aaG rs1437764504 1 -1 RASGRP2 HGNC HGNC:9879 protein_coding YES CCDS31598.1 ENSP00000338864 Q7LDG7 UPI0000161186 NM_153819.1 tolerated(0.76) benign(0.009) 4/17 PROSITE_profiles:PS50212,cd06224,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF16,Pfam_domain:PF00618,Gene3D:1.20.870.10,SMART_domains:SM00229,Superfamily_domains:SSF48366 MODERATE 1 SNV 1 1 PASS AAT . . 64741471 SART1 . GRCh38 chr11 65961954 65961954 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.174A>C p.Glu58Asp p.E58D ENST00000312397 1/20 50 38 9 27 26 0 SART1,missense_variant,p.Glu58Asp,ENST00000312397,NM_005146.4;TSGA10IP,downstream_gene_variant,,ENST00000532620,NM_152762.2;SART1,non_coding_transcript_exon_variant,,ENST00000528573,;SART1,missense_variant,p.Glu58Asp,ENST00000530251,;SART1,non_coding_transcript_exon_variant,,ENST00000529532,;SART1,non_coding_transcript_exon_variant,,ENST00000532333,;TSGA10IP,downstream_gene_variant,,ENST00000534740,;TSGA10IP,downstream_gene_variant,,ENST00000608857,;,regulatory_region_variant,,ENSR00000040915,; C ENSG00000175467 ENST00000312397 Transcript missense_variant 266/3293 174/2403 58/800 E/D gaA/gaC 1 1 SART1 HGNC HGNC:10538 protein_coding YES CCDS31611.1 ENSP00000310448 O43290 UPI00000732D5 NM_005146.4 tolerated_low_confidence(0.42) possibly_damaging(0.899) 1/20 PDB-ENSP_mappings:5o9z.P,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 65961954 CTSF . GRCh38 chr11 66568296 66568296 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.191T>G p.Leu64Arg p.L64R ENST00000310325 1/13 109 99 9 33 33 0 CTSF,missense_variant,p.Leu64Arg,ENST00000310325,NM_003793.3;CTSF,intron_variant,,ENST00000526010,;ACTN3,downstream_gene_variant,,ENST00000502692,NM_001258371.2;ACTN3,downstream_gene_variant,,ENST00000513398,NM_001104.3;CTSF,upstream_gene_variant,,ENST00000524994,;CTSF,upstream_gene_variant,,ENST00000529561,;CTSF,upstream_gene_variant,,ENST00000533168,;CTSF,upstream_gene_variant,,ENST00000525733,;CTSF,upstream_gene_variant,,ENST00000527141,;CTSF,upstream_gene_variant,,ENST00000529199,;CTSF,upstream_gene_variant,,ENST00000530565,;,regulatory_region_variant,,ENSR00000040984,; C ENSG00000174080 ENST00000310325 Transcript missense_variant 301/2035 191/1455 64/484 L/R cTt/cGt 1 -1 CTSF HGNC HGNC:2531 protein_coding YES CCDS8144.1 ENSP00000310832 Q9UBX1 UPI0000001657 NM_003793.3 tolerated(0.64) benign(0) 1/13 Low_complexity_(Seg):seg,hmmpanther:PTHR12411:SF444,hmmpanther:PTHR12411 MODERATE 1 SNV 1 1 PASS AAG . . 66568296 FUT4 . GRCh38 chr11 94544388 94544388 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.255T>G p.His85Gln p.H85Q ENST00000358752 1/1 78 64 12 34 34 0 FUT4,missense_variant,p.His85Gln,ENST00000358752,NM_002033.3;AP000943.3,downstream_gene_variant,,ENST00000536540,;AP000943.3,downstream_gene_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,upstream_gene_variant,,ENST00000446230,;,regulatory_region_variant,,ENSR00000043469,; G ENSG00000196371 ENST00000358752 Transcript missense_variant 549/6059 255/1593 85/530 H/Q caT/caG 1 1 FUT4 HGNC HGNC:4015 protein_coding YES CCDS8301.1 ENSP00000351602 P22083 UPI000002CC7E NM_002033.3 tolerated_low_confidence(0.41) benign(0) 1/1 mobidb-lite MODERATE SNV PASS ATT . . 94544388 ADAMTS8 . GRCh38 chr11 130428219 130428219 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.68T>G p.Leu23Arg p.L23R ENST00000257359 1/9 96 70 18 33 32 0 ADAMTS8,missense_variant,p.Leu23Arg,ENST00000257359,NM_007037.5;,regulatory_region_variant,,ENSR00000047103,; C ENSG00000134917 ENST00000257359 Transcript missense_variant 775/4010 68/2670 23/889 L/R cTg/cGg 1 -1 ADAMTS8 HGNC HGNC:224 protein_coding YES CCDS41732.1 ENSP00000257359 Q9UP79 UPI000013CF5D NM_007037.5 tolerated(0.34) benign(0.103) 1/9 hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 130428219 HSPB8 . GRCh38 chr12 119179547 119179547 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.235T>G p.Phe79Val p.F79V ENST00000281938 1/3 82 70 9 28 27 0 HSPB8,missense_variant,p.Phe79Val,ENST00000281938,NM_014365.2;HSPB8,upstream_gene_variant,,ENST00000541798,;AC084880.3,downstream_gene_variant,,ENST00000535921,;AC084880.4,upstream_gene_variant,,ENST00000538405,;,regulatory_region_variant,,ENSR00000058206,; G ENSG00000152137 ENST00000281938 Transcript missense_variant 906/2152 235/591 79/196 F/V Ttt/Gtt 1 1 HSPB8 HGNC HGNC:30171 protein_coding YES CCDS9189.1 ENSP00000281938 Q9UJY1 UPI0000037C1B NM_014365.2 tolerated(0.44) benign(0.018) 1/3 PROSITE_profiles:PS01031,hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF157 MODERATE 1 SNV 1 1 PASS GTT . . 119179547 NCOR2 . GRCh38 chr12 124378371 124378371 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.2033A>C p.Asn678Thr p.N678T ENST00000405201 18/47 64 48 15 22 22 0 NCOR2,missense_variant,p.Asn678Thr,ENST00000405201,NM_006312.5;NCOR2,missense_variant,p.Asn677Thr,ENST00000404621,NM_001077261.3;NCOR2,missense_variant,p.Asn677Thr,ENST00000429285,NM_001206654.1;NCOR2,missense_variant,p.Asn235Thr,ENST00000356219,;NCOR2,missense_variant,p.Asn235Thr,ENST00000404121,;NCOR2,missense_variant,p.Asn678Thr,ENST00000458234,;NCOR2,missense_variant,p.Asn68Thr,ENST00000448614,; G ENSG00000196498 ENST00000405201 Transcript missense_variant 2034/8533 2033/7545 678/2514 N/T aAc/aCc 1 -1 NCOR2 HGNC HGNC:7673 protein_coding YES CCDS41858.2 ENSP00000384018 C9JFD3 UPI000013D737 NM_006312.5 tolerated(0.16) possibly_damaging(0.723) 18/47 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF21,Gene3D:1.10.10.60 MODERATE 1 SNV 1 1 PASS GTT . . 124378371 POLE . GRCh38 chr12 132661167 132661168 + Splice_Region INS - - A novel 7316-359 BS_6Y9AK5F8 - - c.2865-4dup ENST00000320574 57 40 10 24 22 0 POLE,splice_region_variant,,ENST00000320574,NM_006231.3;POLE,splice_region_variant,,ENST00000535270,;POLE,splice_region_variant,,ENST00000537064,;POLE,upstream_gene_variant,,ENST00000536445,; A ENSG00000177084 ENST00000320574 Transcript splice_region_variant,intron_variant 1 -1 POLE HGNC HGNC:9177 protein_coding YES CCDS9278.1 ENSP00000322570 Q07864 UPI00001FBF97 NM_006231.3 24/48 LOW 1 insertion 1 1 PASS TGA . . 132661167 COG6 . GRCh38 chr13 39655791 39655791 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.65A>C p.Asn22Thr p.N22T ENST00000455146 1/19 86 72 13 56 54 1 COG6,missense_variant,p.Asn22Thr,ENST00000416691,NM_001145079.1;COG6,missense_variant,p.Asn22Thr,ENST00000455146,NM_020751.2;COG6,missense_variant,p.Asn22Thr,ENST00000630730,;COG6,non_coding_transcript_exon_variant,,ENST00000422759,;COG6,missense_variant,p.Asn22Thr,ENST00000356576,;COG6,missense_variant,p.Asn22Thr,ENST00000543804,;COG6,missense_variant,p.Asn22Thr,ENST00000543790,;COG6,missense_variant,p.Asn22Thr,ENST00000542266,;COG6,upstream_gene_variant,,ENST00000536488,;,regulatory_region_variant,,ENSR00000061538,; C ENSG00000133103 ENST00000455146 Transcript missense_variant 115/3563 65/1974 22/657 N/T aAt/aCt 1 1 COG6 HGNC HGNC:18621 protein_coding YES CCDS9370.1 ENSP00000397441 Q9Y2V7 A0A024RDW5 UPI000019271E NM_020751.2 deleterious_low_confidence(0.04) benign(0.007) 1/19 Low_complexity_(Seg):seg,hmmpanther:PTHR21506,Gene3D:1.20.1170.10 MODERATE 1 SNV 1 1 PASS AAT . . 39655791 KCTD12 . GRCh38 chr13 76885494 76885494 + Missense_Mutation SNP T T G rs1025698560 7316-359 BS_6Y9AK5F8 T T c.655A>C p.Thr219Pro p.T219P ENST00000377474 1/1 102 92 9 33 32 0 KCTD12,missense_variant,p.Thr219Pro,ENST00000377474,NM_138444.3;AC000403.1,upstream_gene_variant,,ENST00000613696,;,regulatory_region_variant,,ENSR00000063984,; G ENSG00000178695 ENST00000377474 Transcript missense_variant 897/6225 655/978 219/325 T/P Acc/Ccc rs1025698560 1 -1 KCTD12 HGNC HGNC:14678 protein_coding YES CCDS9455.1 ENSP00000366694 Q96CX2 A0A140VJM4 UPI0000073DDF NM_138444.3 deleterious(0.01) possibly_damaging(0.848) 1/1 hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF29 MODERATE 1 SNV PASS GTG . . 76885494 SLC22A17 . GRCh38 chr14 23352008 23352008 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.207T>G p.His69Gln p.H69Q ENST00000397267 2/10 88 78 9 38 38 0 SLC22A17,missense_variant,p.His69Gln,ENST00000397267,NM_020372.3;SLC22A17,missense_variant,p.His180Gln,ENST00000354772,;SLC22A17,missense_variant,p.His69Gln,ENST00000637426,NM_016609.4,NM_001289050.1;EFS,downstream_gene_variant,,ENST00000216733,NM_005864.3;EFS,downstream_gene_variant,,ENST00000351354,NM_032459.2;EFS,downstream_gene_variant,,ENST00000429593,NM_001277174.1;AL049829.2,upstream_gene_variant,,ENST00000554010,;SLC22A17,missense_variant,p.His180Gln,ENST00000397260,;SLC22A17,missense_variant,p.His180Gln,ENST00000474057,;SLC22A17,missense_variant,p.Leu88Val,ENST00000636431,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000206544,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000557699,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000556803,;SLC22A17,upstream_gene_variant,,ENST00000473917,;SLC22A17,upstream_gene_variant,,ENST00000474774,;,regulatory_region_variant,,ENSR00000066728,; C ENSG00000092096 ENST00000397267 Transcript missense_variant 711/2455 207/1617 69/538 H/Q caT/caG 1 -1 SLC22A17 HGNC HGNC:23095 protein_coding YES CCDS9593.1 ENSP00000380437 Q8WUG5 UPI0000126A49 NM_020372.3 tolerated(0.29) benign(0.011) 2/10 Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF216 MODERATE SNV 5 PASS AAT . . 23352008 NPAS3 . GRCh38 chr14 33800592 33800592 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.2285A>C p.Asn762Thr p.N762T ENST00000356141 12/12 70 50 15 27 26 0 NPAS3,missense_variant,p.Asn730Thr,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Asn732Thr,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Asn767Thr,ENST00000551492,;NPAS3,missense_variant,p.Asn762Thr,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Asn749Thr,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Asn736Thr,ENST00000551634,; C ENSG00000151322 ENST00000356141 Transcript missense_variant 2285/2802 2285/2802 762/933 N/T aAc/aCc 1 1 NPAS3 HGNC HGNC:19311 protein_coding YES CCDS53891.1 ENSP00000348460 Q8IXF0 X5D2Q4 UPI00000743C2 NM_001164749.1 tolerated_low_confidence(1) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF30 MODERATE 1 SNV 1 PASS AAC . . 33800592 NIPA1 . GRCh38 chr15 22786657 22786657 + Translation_Start_Site SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.1A>C p.Met1? p.M1? ENST00000337435 1/5 73 52 13 27 26 0 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; C ENSG00000170113 ENST00000337435 Transcript start_lost 26/6567 1/990 1/329 M/L Atg/Ctg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS AAT . . 22786657 ISLR2 . GRCh38 chr15 74134346 74134346 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.1592A>C p.Tyr531Ser p.Y531S ENST00000361742 4/4 79 68 10 31 31 0 ISLR2,missense_variant,p.Tyr531Ser,ENST00000361742,NM_001130136.1;ISLR2,missense_variant,p.Tyr531Ser,ENST00000435464,NM_001130138.1;ISLR2,missense_variant,p.Tyr531Ser,ENST00000565159,NM_001130137.1;ISLR2,missense_variant,p.Tyr531Ser,ENST00000453268,NM_020851.2;ISLR2,missense_variant,p.Tyr531Ser,ENST00000565540,;ISLR2,intron_variant,,ENST00000419208,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000565332,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;,regulatory_region_variant,,ENSR00000079191,; C ENSG00000167178 ENST00000361742 Transcript missense_variant 2361/4817 1592/2238 531/745 Y/S tAt/tCt 1 1 ISLR2 HGNC HGNC:29286 protein_coding YES CCDS10259.1 ENSP00000355402 Q6UXK2 UPI000004C60F NM_001130136.1 deleterious(0) probably_damaging(0.997) 4/4 hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF15,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAT . . 74134346 KIF7 . GRCh38 chr15 89649149 89649149 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.748T>G p.Phe250Val p.F250V ENST00000394412 4/19 69 58 7 32 31 0 KIF7,missense_variant,p.Phe250Val,ENST00000394412,NM_198525.2;KIF7,3_prime_UTR_variant,,ENST00000445906,;,regulatory_region_variant,,ENSR00000080939,; C ENSG00000166813 ENST00000394412 Transcript missense_variant 825/4551 748/4032 250/1343 F/V Ttc/Gtc 1 -1 KIF7 HGNC HGNC:30497 protein_coding YES CCDS32325.2 ENSP00000377934 Q2M1P5 UPI00015F81C7 NM_198525.2 deleterious(0) probably_damaging(0.998) 4/19 PDB-ENSP_mappings:2xt3.A,PDB-ENSP_mappings:4a14.A,cd01372,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF445,PROSITE_patterns:PS00411,Prints_domain:PR00380 MODERATE 1 SNV 5 1 PASS AAG . . 89649149 VASN . GRCh38 chr16 4382712 4382712 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.1835A>C p.Lys612Thr p.K612T ENST00000304735 2/2 108 95 9 29 28 0 VASN,missense_variant,p.Lys612Thr,ENST00000304735,NM_138440.2;CORO7,intron_variant,,ENST00000251166,NM_024535.4;CORO7,intron_variant,,ENST00000537233,NM_001201472.1;CORO7,intron_variant,,ENST00000572044,;CORO7-PAM16,intron_variant,,ENST00000572467,NM_001201479.1;CORO7,intron_variant,,ENST00000572549,;CORO7,intron_variant,,ENST00000574025,NM_001201473.1;CORO7,intron_variant,,ENST00000571227,NM_001351729.1;CORO7,intron_variant,,ENST00000571756,;CORO7,intron_variant,,ENST00000574311,;CORO7-PAM16,intron_variant,,ENST00000575334,;CORO7,intron_variant,,ENST00000575714,;CORO7,intron_variant,,ENST00000576437,; C ENSG00000168140 ENST00000304735 Transcript missense_variant 1990/2806 1835/2022 612/673 K/T aAa/aCa 1 1 VASN HGNC HGNC:18517 protein_coding YES CCDS10514.1 ENSP00000306864 Q6EMK4 UPI000003E779 NM_138440.2 deleterious(0.05) possibly_damaging(0.863) 2/2 hmmpanther:PTHR45031 MODERATE 1 SNV 1 PASS AAA . . 4382712 MAZ . GRCh38 chr16 29807222 29807222 + Missense_Mutation SNP A A C rs1470361506 7316-359 BS_6Y9AK5F8 A A c.437A>C p.Glu146Ala p.E146A ENST00000219782 2/6 84 52 16 24 23 1 MAZ,missense_variant,p.Glu146Ala,ENST00000219782,NM_001042539.2;MAZ,missense_variant,p.Glu146Ala,ENST00000322945,NM_002383.3;MAZ,missense_variant,p.Glu123Ala,ENST00000545521,NM_001276275.1;MAZ,intron_variant,,ENST00000562337,NM_001276276.1;MAZ,intron_variant,,ENST00000563402,;MAZ,intron_variant,,ENST00000566906,;KIF22,downstream_gene_variant,,ENST00000160827,NM_007317.2;PRRT2,upstream_gene_variant,,ENST00000358758,NM_145239.2;KIF22,downstream_gene_variant,,ENST00000400751,;KIF22,downstream_gene_variant,,ENST00000561482,NM_001256270.1,NM_001256269.1;PRRT2,upstream_gene_variant,,ENST00000562148,;MAZ,upstream_gene_variant,,ENST00000562557,;MAZ,upstream_gene_variant,,ENST00000563012,;MAZ,upstream_gene_variant,,ENST00000567444,;PRRT2,upstream_gene_variant,,ENST00000567551,;PRRT2,upstream_gene_variant,,ENST00000567659,NM_001256442.1;MAZ,upstream_gene_variant,,ENST00000568282,;MAZ,upstream_gene_variant,,ENST00000568411,;MAZ,upstream_gene_variant,,ENST00000568544,;KIF22,downstream_gene_variant,,ENST00000569382,;MAZ,upstream_gene_variant,,ENST00000569978,;MAZ,upstream_gene_variant,,ENST00000616501,;PRRT2,upstream_gene_variant,,ENST00000636619,;PRRT2,upstream_gene_variant,,ENST00000637565,;PRRT2,upstream_gene_variant,,ENST00000637596,;AC009133.2,intron_variant,,ENST00000566537,;AC009133.1,downstream_gene_variant,,ENST00000563806,;AC009133.1,downstream_gene_variant,,ENST00000569039,;AC009133.1,downstream_gene_variant,,ENST00000569981,;AC009133.4,upstream_gene_variant,,ENST00000619159,;AC009133.5,upstream_gene_variant,,ENST00000562594,;PRRT2,upstream_gene_variant,,ENST00000568516,;PRRT2,upstream_gene_variant,,ENST00000636001,;PRRT2,upstream_gene_variant,,ENST00000637542,;MAZ,intron_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000565777,;KIF22,downstream_gene_variant,,ENST00000568312,;PRRT2,upstream_gene_variant,,ENST00000636131,;PRRT2,upstream_gene_variant,,ENST00000637290,;,regulatory_region_variant,,ENSR00000280275,; C ENSG00000103495 ENST00000219782 Transcript missense_variant 543/2698 437/1482 146/493 E/A gAg/gCg rs1470361506 1 1 MAZ HGNC HGNC:6914 protein_coding YES CCDS42144.1 ENSP00000219782 P56270 UPI00001AE621 NM_001042539.2 tolerated_low_confidence(0.62) benign(0.006) 2/6 Gene3D:3.30.60.60,hmmpanther:PTHR45257,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAG . . 29807222 CDH15 . GRCh38 chr16 89171844 89171844 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.13T>G p.Phe5Val p.F5V ENST00000289746 1/14 70 61 9 27 27 0 CDH15,missense_variant,p.Phe5Val,ENST00000289746,NM_004933.2;LINC02138,downstream_gene_variant,,ENST00000378340,;CDH15,non_coding_transcript_exon_variant,,ENST00000521087,;CDH15,non_coding_transcript_exon_variant,,ENST00000524089,; G ENSG00000129910 ENST00000289746 Transcript missense_variant 78/2847 13/2445 5/814 F/V Ttc/Gtc 1 1 CDH15 HGNC HGNC:1754 protein_coding YES CCDS10976.1 ENSP00000289746 P55291 UPI0000126DAF NM_004933.2 tolerated_low_confidence(0.25) benign(0.003) 1/14 Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS GTT . . 89171844 SMURF2 . GRCh38 chr17 64661855 64661855 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.26A>C p.Asn9Thr p.N9T ENST00000262435 1/19 67 42 15 19 18 0 SMURF2,missense_variant,p.Asn9Thr,ENST00000262435,NM_022739.3;SMURF2,missense_variant,p.Asn9Thr,ENST00000585301,;SMURF2,upstream_gene_variant,,ENST00000578200,;SMURF2,missense_variant,p.Asn9Thr,ENST00000582081,;SMURF2,missense_variant,p.Asn9Thr,ENST00000578386,;,regulatory_region_variant,,ENSR00000096996,; G ENSG00000108854 ENST00000262435 Transcript missense_variant 214/2918 26/2247 9/748 N/T aAc/aCc 1 -1 SMURF2 HGNC HGNC:16809 protein_coding YES CCDS32707.1 ENSP00000262435 Q9HAU4 UPI00001361C5 NM_022739.3 tolerated(0.09) benign(0) 1/19 hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF300,PIRSF_domain:PIRSF001569 MODERATE 1 SNV 1 PASS GTT . . 64661855 SGSH . GRCh38 chr17 80217046 80217046 + Missense_Mutation SNP T T G rs779703983 7316-359 BS_6Y9AK5F8 T T c.235A>C p.Thr79Pro p.T79P ENST00000326317 2/8 77 59 9 29 29 0 SGSH,missense_variant,p.Thr79Pro,ENST00000326317,NM_000199.3;SGSH,missense_variant,p.Thr79Pro,ENST00000570427,;SGSH,synonymous_variant,p.Ser90=,ENST00000570923,;SGSH,5_prime_UTR_variant,,ENST00000576707,;SLC26A11,upstream_gene_variant,,ENST00000361193,NM_173626.3,NM_001166347.1;SLC26A11,upstream_gene_variant,,ENST00000411502,;SLC26A11,upstream_gene_variant,,ENST00000546047,NM_001166349.1,NM_001166348.1;SLC26A11,upstream_gene_variant,,ENST00000571176,;SGSH,upstream_gene_variant,,ENST00000572257,;SLC26A11,upstream_gene_variant,,ENST00000572725,;SLC26A11,upstream_gene_variant,,ENST00000573809,;SLC26A11,upstream_gene_variant,,ENST00000574967,;SLC26A11,upstream_gene_variant,,ENST00000576126,;SGSH,upstream_gene_variant,,ENST00000576856,;SLC26A11,upstream_gene_variant,,ENST00000577155,;SGSH,non_coding_transcript_exon_variant,,ENST00000572208,;SLC26A11,upstream_gene_variant,,ENST00000571564,;SLC26A11,upstream_gene_variant,,ENST00000571602,;SLC26A11,upstream_gene_variant,,ENST00000572226,;SGSH,missense_variant,p.Thr79Pro,ENST00000573150,;SGSH,missense_variant,p.Thr61Pro,ENST00000574505,;SGSH,missense_variant,p.Thr79Pro,ENST00000576941,;SGSH,non_coding_transcript_exon_variant,,ENST00000575282,;SGSH,non_coding_transcript_exon_variant,,ENST00000571075,;SGSH,non_coding_transcript_exon_variant,,ENST00000571675,;SGSH,non_coding_transcript_exon_variant,,ENST00000575188,;SGSH,non_coding_transcript_exon_variant,,ENST00000571051,;SLC26A11,upstream_gene_variant,,ENST00000571888,;SLC26A11,upstream_gene_variant,,ENST00000572652,; G ENSG00000181523 ENST00000326317 Transcript missense_variant 322/2784 235/1509 79/502 T/P Act/Cct rs779703983,CM971356 1 -1 SGSH HGNC HGNC:10818 protein_coding YES CCDS11770.1 ENSP00000314606 P51688 UPI000000DBD0 NM_000199.3 deleterious(0) probably_damaging(0.997) 2/8 PDB-ENSP_mappings:4mhx.A,PDB-ENSP_mappings:4mhx.B,PDB-ENSP_mappings:4miv.A,PDB-ENSP_mappings:4miv.B,PDB-ENSP_mappings:4miv.C,PDB-ENSP_mappings:4miv.D,PDB-ENSP_mappings:4miv.E,PDB-ENSP_mappings:4miv.F,PDB-ENSP_mappings:4miv.G,PDB-ENSP_mappings:4miv.H,cd16027,hmmpanther:PTHR43108,hmmpanther:PTHR43108:SF6,PROSITE_patterns:PS00523,Gene3D:3.40.720.10,Pfam_domain:PF00884,Superfamily_domains:SSF53649 likely_pathogenic MODERATE 1 SNV 1 0,1 1 PASS GTG . . 80217046 AATK . GRCh38 chr17 81120036 81120036 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.3783A>C p.Glu1261Asp p.E1261D ENST00000326724 12/14 77 61 10 21 21 0 AATK,missense_variant,p.Glu1261Asp,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Glu1158Asp,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,3_prime_UTR_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,; G ENSG00000181409 ENST00000326724 Transcript missense_variant 3808/5257 3783/4125 1261/1374 E/D gaA/gaC 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 tolerated(0.16) possibly_damaging(0.563) 12/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,mobidb-lite MODERATE SNV 5 PASS ATT . . 81120036 AATK . GRCh38 chr17 81124733 81124733 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.956A>C p.Asn319Thr p.N319T ENST00000326724 9/14 104 83 19 32 31 0 AATK,missense_variant,p.Asn319Thr,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Asn216Thr,ENST00000417379,NM_004920.2;AATK,downstream_gene_variant,,ENST00000575363,;MIR657,downstream_gene_variant,,ENST00000385003,;MIR3065,upstream_gene_variant,,ENST00000390137,;MIR338,downstream_gene_variant,,ENST00000636369,;AATK,non_coding_transcript_exon_variant,,ENST00000573441,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,missense_variant,p.Asn319Thr,ENST00000374792,;AATK,intron_variant,,ENST00000573469,;AATK,upstream_gene_variant,,ENST00000570932,;AATK,downstream_gene_variant,,ENST00000576053,; G ENSG00000181409 ENST00000326724 Transcript missense_variant 981/5257 956/4125 319/1374 N/T aAt/aCt 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 deleterious(0.01) probably_damaging(0.975) 9/14 Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,Superfamily_domains:SSF56112,cd05087 MODERATE 1 SNV 5 PASS ATT . . 81124733 PCSK4 . GRCh38 chr19 1483855 1483855 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.1256A>C p.Asn419Thr p.N419T ENST00000300954 10/15 112 84 18 30 29 1 PCSK4,missense_variant,p.Asn419Thr,ENST00000300954,NM_017573.4;C19orf25,upstream_gene_variant,,ENST00000427685,;C19orf25,upstream_gene_variant,,ENST00000436106,;C19orf25,upstream_gene_variant,,ENST00000585675,NM_152482.2;C19orf25,upstream_gene_variant,,ENST00000586564,;C19orf25,upstream_gene_variant,,ENST00000588427,;PCSK4,downstream_gene_variant,,ENST00000588671,;C19orf25,upstream_gene_variant,,ENST00000588849,;C19orf25,upstream_gene_variant,,ENST00000588871,;C19orf25,upstream_gene_variant,,ENST00000590621,;C19orf25,upstream_gene_variant,,ENST00000591027,;C19orf25,upstream_gene_variant,,ENST00000592872,;PCSK4,downstream_gene_variant,,ENST00000587784,;PCSK4,downstream_gene_variant,,ENST00000590057,;PCSK4,downstream_gene_variant,,ENST00000591687,;C19orf25,upstream_gene_variant,,ENST00000592605,;PCSK4,3_prime_UTR_variant,,ENST00000591201,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586616,;PCSK4,non_coding_transcript_exon_variant,,ENST00000441747,;PCSK4,non_coding_transcript_exon_variant,,ENST00000588195,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586002,;PCSK4,upstream_gene_variant,,ENST00000586074,;C19orf25,upstream_gene_variant,,ENST00000589421,;PCSK4,upstream_gene_variant,,ENST00000591303,;PCSK4,downstream_gene_variant,,ENST00000614078,; G ENSG00000115257 ENST00000300954 Transcript missense_variant 1318/2661 1256/2268 419/755 N/T aAc/aCc 1 -1 PCSK4 HGNC HGNC:8746 protein_coding YES CCDS12069.2 ENSP00000300954 Q6UW60 A0A140VJQ9 UPI000014E136 NM_017573.4 deleterious(0.02) probably_damaging(0.938) 10/15 Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743,hmmpanther:PTHR42884:SF16,hmmpanther:PTHR42884 MODERATE 1 SNV 1 PASS GTT . . 1483855 LMNB2 . GRCh38 chr19 2456671 2456671 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.263A>C p.Glu88Ala p.E88A ENST00000325327 1/12 64 55 7 26 25 0 LMNB2,missense_variant,p.Glu88Ala,ENST00000325327,NM_032737.3;LINC01775,downstream_gene_variant,,ENST00000587826,;,regulatory_region_variant,,ENSR00000105868,;,TF_binding_site_variant,,MA0541.1,; G ENSG00000176619 ENST00000325327 Transcript missense_variant,splice_region_variant 326/4671 263/1863 88/620 E/A gAg/gCg 1 -1 LMNB2 HGNC HGNC:6638 protein_coding YES CCDS12090.2 ENSP00000327054 Q03252 UPI000059D625 NM_032737.3 deleterious(0) benign(0.287) 1/12 hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF152,Gene3D:1.20.5.340,Pfam_domain:PF00038,SMART_domains:SM01391 MODERATE 1 SNV 1 1 PASS CTC . . 2456671 NACC1 . GRCh38 chr19 13135876 13135876 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.669A>C p.Gln223His p.Q223H ENST00000292431 2/6 79 69 10 38 34 0 NACC1,missense_variant,p.Gln223His,ENST00000292431,NM_052876.3;NACC1,upstream_gene_variant,,ENST00000585663,;NACC1,downstream_gene_variant,,ENST00000586171,;AC005546.1,downstream_gene_variant,,ENST00000591837,;AC011446.1,downstream_gene_variant,,ENST00000591825,; C ENSG00000160877 ENST00000292431 Transcript missense_variant 795/4445 669/1584 223/527 Q/H caA/caC 1 1 NACC1 HGNC HGNC:20967 protein_coding YES CCDS12294.1 ENSP00000292431 Q96RE7 A0A024R7E0 UPI000006FA7F NM_052876.3 tolerated(0.09) benign(0.087) 2/6 hmmpanther:PTHR44263,hmmpanther:PTHR44263:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 13135876 SAMD1 . GRCh38 chr19 14090369 14090369 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.52A>C p.Thr18Pro p.T18P ENST00000533683 1/5 53 24 17 15 15 0 SAMD1,missense_variant,p.Thr18Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 340/2164 52/1299 18/432 T/P Acg/Ccg 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.063) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090369 ANO8 . GRCh38 chr19 17328802 17328802 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.1586A>C p.Gln529Pro p.Q529P ENST00000159087 13/18 68 51 13 28 27 0 ANO8,missense_variant,p.Gln529Pro,ENST00000159087,NM_020959.2;ANO8,downstream_gene_variant,,ENST00000630631,;ANO8,3_prime_UTR_variant,,ENST00000597643,;ANO8,downstream_gene_variant,,ENST00000600711,;,regulatory_region_variant,,ENSR00000107881,; G ENSG00000074855 ENST00000159087 Transcript missense_variant 1745/4152 1586/3699 529/1232 Q/P cAg/cCg 1 -1 ANO8 HGNC HGNC:29329 protein_coding YES CCDS32949.1 ENSP00000159087 Q9HCE9 UPI00001C200F NM_020959.2 tolerated(0.24) benign(0.001) 13/18 Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF33,mobidb-lite MODERATE 1 SNV 1 PASS CTG . . 17328802 BORCS8-MEF2B . GRCh38 chr19 19146022 19146022 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.770T>G p.Val257Gly p.V257G ENST00000444486 10/10 83 63 11 35 33 0 BORCS8-MEF2B,missense_variant,p.Val257Gly,ENST00000444486,NM_005919.3;MEF2B,missense_variant,p.Ser301Arg,ENST00000410050,;BORCS8-MEF2B,missense_variant,p.Val274Gly,ENST00000514819,;MEF2B,missense_variant,p.Ser294Arg,ENST00000424583,NM_001145785.1;MEF2B,missense_variant,p.Ser212Arg,ENST00000409447,;MEF2B,3_prime_UTR_variant,,ENST00000409224,;BORCS8-MEF2B,downstream_gene_variant,,ENST00000602276,;BORCS8-MEF2B,downstream_gene_variant,,ENST00000602438,;BORCS8-MEF2B,splice_region_variant,,ENST00000602804,;BORCS8-MEF2B,splice_region_variant,,ENST00000354191,;BORCS8-MEF2B,splice_region_variant,,ENST00000630940,;BORCS8-MEF2B,downstream_gene_variant,,ENST00000602689,;,regulatory_region_variant,,ENSR00000108201,;,regulatory_region_variant,,ENSR00000287767,; C ENSG00000064489 ENST00000444486 Transcript missense_variant,splice_region_variant 1037/1492 770/1098 257/365 V/G gTg/gGg 1 -1 BORCS8-MEF2B HGNC HGNC:39979 protein_coding YES CCDS12394.1 ENSP00000390762 A0A024R7N0 UPI000012EEB5 NM_005919.3 tolerated_low_confidence(0.09) benign(0) 10/10 mobidb-lite,hmmpanther:PTHR11945,hmmpanther:PTHR11945:SF335 MODERATE 1 SNV 2 PASS CAC . . 19146022 LRP3 . GRCh38 chr19 33194787 33194787 + Translation_Start_Site SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.2T>G p.Met1? p.M1? ENST00000253193 1/7 67 47 14 24 22 0 LRP3,start_lost,p.Met1?,ENST00000253193,NM_002333.3;LRP3,intron_variant,,ENST00000592484,;LRP3,upstream_gene_variant,,ENST00000590275,;,regulatory_region_variant,,ENSR00000108781,; G ENSG00000130881 ENST00000253193 Transcript start_lost 204/3807 2/2313 1/770 M/R aTg/aGg 1 1 LRP3 HGNC HGNC:6695 protein_coding YES CCDS12430.1 ENSP00000253193 O75074 UPI0000047A9C NM_002333.3 deleterious_low_confidence(0) benign(0.093) 1/7 HIGH 1 SNV 1 PASS ATG . . 33194787 MAP3K10 . GRCh38 chr19 40192032 40192032 + Translation_Start_Site SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.1A>C p.Met1? p.M1? ENST00000253055 1/10 66 47 16 32 31 1 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; C ENSG00000130758 ENST00000253055 Transcript start_lost 289/3436 1/2865 1/954 M/L Atg/Ctg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.456) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS CAT . . 40192032 MAP3K10 . GRCh38 chr19 40192033 40192033 + Translation_Start_Site SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.2T>G p.Met1? p.M1? ENST00000253055 1/10 66 51 13 33 32 1 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; G ENSG00000130758 ENST00000253055 Transcript start_lost 290/3436 2/2865 1/954 M/R aTg/aGg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS ATG . . 40192033 MEGF8 . GRCh38 chr19 42353076 42353076 + Missense_Mutation SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.3499T>G p.Phe1167Val p.F1167V ENST00000251268 20/42 88 74 9 23 23 0 MEGF8,missense_variant,p.Phe1100Val,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Phe1167Val,ENST00000251268,NM_001271938.1;MEGF8,5_prime_UTR_variant,,ENST00000378073,;MIR8077,downstream_gene_variant,,ENST00000618566,;MEGF8,non_coding_transcript_exon_variant,,ENST00000593840,; G ENSG00000105429 ENST00000251268 Transcript missense_variant 3499/9549 3499/8538 1167/2845 F/V Ttc/Gtc 1 1 MEGF8 HGNC HGNC:3233 protein_coding YES CCDS62693.1 ENSP00000251268 Q7Z7M0 UPI00005788D1 NM_001271938.1 tolerated(0.13) possibly_damaging(0.824) 20/42 Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287,SMART_domains:SM00180,Superfamily_domains:SSF57196,cd00055 MODERATE 1 SNV 5 1 PASS CTT . . 42353076 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 85 58 20 21 20 1 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 AP2A1 . GRCh38 chr19 49767198 49767198 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.65A>C p.Asn22Thr p.N22T ENST00000359032 1/24 68 53 10 21 20 0 AP2A1,missense_variant,p.Asn22Thr,ENST00000354293,NM_130787.2;AP2A1,missense_variant,p.Asn22Thr,ENST00000359032,NM_014203.2;TSKS,upstream_gene_variant,,ENST00000246801,NM_021733.1;RNU6-841P,upstream_gene_variant,,ENST00000383872,;AP2A1,splice_region_variant,,ENST00000600199,;AP2A1,missense_variant,p.Asn22Thr,ENST00000597774,;,regulatory_region_variant,,ENSR00000110952,; C ENSG00000196961 ENST00000359032 Transcript missense_variant,splice_region_variant 65/3286 65/2934 22/977 N/T aAc/aCc 1 1 AP2A1 HGNC HGNC:561 protein_coding YES CCDS46148.1 ENSP00000351926 O95782 UPI0000167B50 NM_014203.2 deleterious(0.05) benign(0.021) 1/24 Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF19,Superfamily_domains:SSF48371 MODERATE SNV 5 PASS AAC . . 49767198 SHANK1 . GRCh38 chr19 50668299 50668299 + Missense_Mutation SNP T T G 7316-359 BS_6Y9AK5F8 T T c.3661A>C p.Ser1221Arg p.S1221R ENST00000293441 22/23 86 63 12 37 34 1 SHANK1,missense_variant,p.Ser1221Arg,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Ser1229Arg,ENST00000391814,;SHANK1,missense_variant,p.Ser1212Arg,ENST00000359082,;SHANK1,missense_variant,p.Ser608Arg,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,; G ENSG00000161681 ENST00000293441 Transcript missense_variant 3680/6643 3661/6486 1221/2161 S/R Agc/Cgc COSM5672174,COSM5672173 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 tolerated(0.62) benign(0) 22/23 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3 1,1 MODERATE 1 SNV 1 1,1 1 PASS CTG . . 50668299 ZCCHC3 . GRCh38 chr20 297621 297621 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.35A>C p.Lys12Thr p.K12T ENST00000500893 1/1 79 60 13 34 32 0 ZCCHC3,missense_variant,p.Lys12Thr,ENST00000500893,NM_033089.6;,regulatory_region_variant,,ENSR00000133395,;,TF_binding_site_variant,,PB0010.1,; C ENSG00000247315 ENST00000500893 Transcript missense_variant 654/3354 35/1212 12/403 K/T aAa/aCa 1 1 ZCCHC3 HGNC HGNC:16230 protein_coding YES CCDS42844.1 ENSP00000484056 Q9NUD5 UPI0000072273 NM_033089.6 tolerated_low_confidence(0.06) benign(0.023) 1/1 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV PASS AAA . . 297621 TP53INP2 . GRCh38 chr20 34709522 34709522 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.411A>C p.Glu137Asp p.E137D ENST00000374810 4/5 81 64 13 18 17 0 TP53INP2,missense_variant,p.Glu137Asp,ENST00000374810,NM_021202.1,NM_001329429.1,NM_001329431.1;TP53INP2,missense_variant,p.Glu137Asp,ENST00000374809,NM_001329430.1;NCOA6,intron_variant,,ENST00000628752,;TP53INP2,downstream_gene_variant,,ENST00000414082,;TP53INP2,downstream_gene_variant,,ENST00000451665,;NCOA6,intron_variant,,ENST00000434040,;NCOA6,intron_variant,,ENST00000593786,;,regulatory_region_variant,,ENSR00000136445,; C ENSG00000078804 ENST00000374810 Transcript missense_variant,splice_region_variant 800/4184 411/663 137/220 E/D gaA/gaC 1 1 TP53INP2 HGNC HGNC:16104 protein_coding YES CCDS13240.1 ENSP00000363943 Q8IXH6 UPI0000074230 NM_021202.1,NM_001329429.1,NM_001329431.1 tolerated(0.68) benign(0) 4/5 mobidb-lite,hmmpanther:PTHR31671:SF2,hmmpanther:PTHR31671,Pfam_domain:PF14839,blastprodom:PD485813 MODERATE 1 SNV 1 PASS AAG . . 34709522 CEP250 . GRCh38 chr20 35504180 35504180 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.5811A>C p.Glu1937Asp p.E1937D ENST00000397527 30/35 79 68 9 28 28 0 CEP250,missense_variant,p.Glu1937Asp,ENST00000397527,NM_001318219.1,NM_007186.5;CEP250,missense_variant,p.Glu425Asp,ENST00000422671,;CEP250,downstream_gene_variant,,ENST00000425525,; C ENSG00000126001 ENST00000397527 Transcript missense_variant 6531/15703 5811/7329 1937/2442 E/D gaA/gaC 1 1 CEP250 HGNC HGNC:1859 protein_coding YES CCDS13255.1 ENSP00000380661 Q9BV73 UPI000006FE8F NM_001318219.1,NM_007186.5 tolerated(0.16) benign(0.124) 30/35 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF1,hmmpanther:PTHR23159 MODERATE 1 SNV 5 PASS AAC . . 35504180 KCNK15 . GRCh38 chr20 44750629 44750629 + Missense_Mutation SNP A A C rs1158770252 7316-359 BS_6Y9AK5F8 A A c.784A>C p.Ser262Arg p.S262R ENST00000372861 2/2 73 60 10 23 20 3 KCNK15,missense_variant,p.Ser262Arg,ENST00000372861,NM_022358.3;RIMS4,downstream_gene_variant,,ENST00000372851,NM_182970.3;KCNK15-AS1,upstream_gene_variant,,ENST00000427303,;KCNK15-AS1,upstream_gene_variant,,ENST00000445420,;AL118522.1,downstream_gene_variant,,ENST00000611368,;,regulatory_region_variant,,ENSR00000137582,;,regulatory_region_variant,,ENSR00000298596,; C ENSG00000124249 ENST00000372861 Transcript missense_variant 915/2599 784/993 262/330 S/R Agc/Cgc rs1158770252 1 1 KCNK15 HGNC HGNC:13814 protein_coding YES CCDS13337.1 ENSP00000361952 Q9H427 UPI000003EA1C NM_022358.3 tolerated(0.25) benign(0.022) 2/2 PIRSF_domain:PIRSF038061,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF18,mobidb-lite MODERATE 1 SNV 1 PASS CAG . . 44750629 RRP1 . GRCh38 chr21 43789688 43789688 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.59A>C p.Asn20Thr p.N20T ENST00000497547 1/13 86 72 13 30 29 0 RRP1,missense_variant,p.Asn20Thr,ENST00000497547,NM_003683.5;RRP1,non_coding_transcript_exon_variant,,ENST00000475534,;RRP1,missense_variant,p.Asn20Thr,ENST00000483896,;RRP1,non_coding_transcript_exon_variant,,ENST00000492638,;RRP1,upstream_gene_variant,,ENST00000467112,;RRP1,upstream_gene_variant,,ENST00000473988,;,regulatory_region_variant,,ENSR00000142957,; C ENSG00000160214 ENST00000497547 Transcript missense_variant 176/3022 59/1386 20/461 N/T aAt/aCt 1 1 RRP1 HGNC HGNC:18785 protein_coding YES CCDS42951.1 ENSP00000417464 P56182 UPI0000130286 NM_003683.5 deleterious(0) possibly_damaging(0.686) 1/13 Pfam_domain:PF05997,hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF1 MODERATE 1 SNV 1 PASS AAT . . 43789688 GSC2 . GRCh38 chr22 19150283 19150283 + Translation_Start_Site SNP T T G novel 7316-359 BS_6Y9AK5F8 T T c.1A>C p.Met1? p.M1? ENST00000086933 1/3 67 57 10 28 28 0 GSC2,start_lost,p.Met1?,ENST00000086933,NM_005315.1; G ENSG00000063515 ENST00000086933 Transcript start_lost 1/1033 1/618 1/205 M/L Atg/Ctg 1 -1 GSC2 HGNC HGNC:4613 protein_coding YES CCDS13757.1 ENSP00000086933 O15499 UPI000012BBA2 NM_005315.1 deleterious_low_confidence(0) benign(0.003) 1/3 HIGH 1 SNV 5 PASS ATG . . 19150283 SOWAHD . GRCh38 chrX 119759399 119759399 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.732A>C p.Glu244Asp p.E244D ENST00000343905 1/1 35 25 10 12 11 0 SOWAHD,missense_variant,p.Glu244Asp,ENST00000343905,NM_001105576.2;,regulatory_region_variant,,ENSR00000248367,; C ENSG00000187808 ENST00000343905 Transcript missense_variant 787/1552 732/948 244/315 E/D gaA/gaC 1 1 SOWAHD HGNC HGNC:32960 protein_coding YES CCDS43984.1 ENSP00000340975 A6NJG2 UPI0000197588 NM_001105576.2 tolerated(0.57) benign(0) 1/1 Gene3D:1.25.40.20,hmmpanther:PTHR14491,hmmpanther:PTHR14491:SF8 MODERATE 1 SNV PASS AAT . . 119759399 TEX13C . GRCh38 chrX 125321722 125321722 + Missense_Mutation SNP A A C novel 7316-359 BS_6Y9AK5F8 A A c.1603A>C p.Lys535Gln p.K535Q ENST00000632600 1/1 42 29 5 23 23 0 TEX13C,missense_variant,p.Lys535Gln,ENST00000632600,NM_001195272.1; C ENSG00000282815 ENST00000632600 Transcript missense_variant 1603/5095 1603/2982 535/993 K/Q Aag/Cag 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.49) unknown(0) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite MODERATE 1 SNV PASS GAA . . 125321722 GPC3 . GRCh38 chrX 133704278 133704278 + Splice_Region DEL A A - rs374169314 7316-359 BS_6Y9AK5F8 A A c.1033-5del ENST00000394299 34 20 7 20 15 0 GPC3,splice_region_variant,,ENST00000394299,NM_001164617.1;GPC3,intron_variant,,ENST00000370818,NM_004484.3,NM_001164618.1;GPC3,intron_variant,,ENST00000406757,;GPC3,intron_variant,,ENST00000631057,NM_001164619.1; - ENSG00000147257 ENST00000394299 Transcript splice_region_variant,intron_variant rs374169314,COSM1625536 1 -1 GPC3 HGNC HGNC:4451 protein_coding YES CCDS55496.1 ENSP00000377836 P51654 UPI00015E044A NM_001164617.1 3/8 0,1 LOW 1 deletion 1 0,1 1 PASS TGAA . . 0.3057 0.1998 0.2919 0.3099 0.3015 0.3266 0.3317 0.3043 0.3086 133704277 RBMX . GRCh38 chrX 136874412 136874413 + Frame_Shift_Ins INS - - GG rs369155856 7316-359 BS_6Y9AK5F8 - - c.904_905dup p.Ser303HisfsTer137 p.S303Hfs*137 ENST00000320676 9/9 41 29 8 11 11 0 RBMX,frameshift_variant,p.Ser303HisfsTer137,ENST00000320676,NM_002139.3;RBMX,frameshift_variant,p.Ser175HisfsTer137,ENST00000565438,;RBMX,3_prime_UTR_variant,,ENST00000562646,;RBMX,intron_variant,,ENST00000419968,;RBMX,intron_variant,,ENST00000431446,NM_001164803.1;SNORD61,downstream_gene_variant,,ENST00000384252,;RBMX,upstream_gene_variant,,ENST00000496459,;RBMX,upstream_gene_variant,,ENST00000561733,;RBMX,downstream_gene_variant,,ENST00000567262,;RBMX,3_prime_UTR_variant,,ENST00000568578,;RBMX,3_prime_UTR_variant,,ENST00000464781,;RBMX,downstream_gene_variant,,ENST00000563370,;RBMX,downstream_gene_variant,,ENST00000565907,; GG ENSG00000147274 ENST00000320676 Transcript frameshift_variant 1060-1061/2012 905-906/1176 302/391 P/PX cca/ccCCa rs369155856 1 -1 RBMX HGNC HGNC:9910 protein_coding YES CCDS14661.1 ENSP00000359645 P38159 UPI0000134535 NM_002139.3 9/9 hmmpanther:PTHR44345,hmmpanther:PTHR44345:SF1,mobidb-lite HIGH 1 insertion 1 1 PASS ATG . . 0.00253 0.004141 0.00426 0.001795 0.0009377 0.001051 0.00283 0.001938 0.0009978 136874412 MAGEC1 . GRCh38 chrX 141907387 141907387 + Missense_Mutation SNP T T G rs1177079035 7316-359 BS_6Y9AK5F8 T T c.1983T>G p.His661Gln p.H661Q ENST00000285879 4/4 33 27 5 16 16 0 MAGEC1,missense_variant,p.His661Gln,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; G ENSG00000155495 ENST00000285879 Transcript missense_variant 2269/4270 1983/3429 661/1142 H/Q caT/caG rs1177079035 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(1) benign(0) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,hmmpanther:PTHR11736:SF17,mobidb-lite MODERATE 1 SNV 1 PASS ATA . . 141907387 USP9Y . GRCh38 chrY 12856848 12856848 + Splice_Region DEL A A - rs771808116 7316-359 BS_6Y9AK5F8 A A c.7434+14del ENST00000338981 30 19 8 16 14 0 USP9Y,splice_region_variant,,ENST00000338981,NM_004654.3;USP9Y,splice_region_variant,,ENST00000453031,;USP9Y,splice_region_variant,,ENST00000426564,;USP9Y,non_coding_transcript_exon_variant,,ENST00000471409,; - ENSG00000114374 ENST00000338981 Transcript splice_region_variant,intron_variant rs771808116,COSM1735963 1 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507 UPI00001AE67D NM_004654.3 44/45 0,1 LOW 1 deletion 1 11 0,1 1 PASS GTAA . . 0.0004212 0.006536 12856847 IGFN1 . GRCh38 chr1 201209940 201209940 + Missense_Mutation SNP G G A rs199816935 7316-452 BS_QG3PYXB4 G G c.5047G>A p.Gly1683Arg p.G1683R ENST00000335211 12/24 75 62 9 34 31 0 IGFN1,missense_variant,p.Gly1683Arg,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; A ENSG00000163395 ENST00000335211 Transcript missense_variant 5177/11810 5047/11127 1683/3708 G/R Gga/Aga rs199816935,COSM4595087 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated_low_confidence(0.12) unknown(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 0.000975 0.007515 0.001579 0.0001391 0.0003258 0.000876 0.0003519 0.000106 201209940 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-452 BS_QG3PYXB4 A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 92 75 17 36 36 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 SLC35G5 . GRCh38 chr8 11332020 11332020 + Missense_Mutation SNP T T C rs62488716 7316-452 BS_QG3PYXB4 T T c.914T>C p.Val305Ala p.V305A ENST00000382435 1/1 77 67 10 49 49 0 SLC35G5,missense_variant,p.Val305Ala,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; C ENSG00000177710 ENST00000382435 Transcript missense_variant 1133/1321 914/1017 305/338 V/A gTg/gCg rs62488716,COSM4593558 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.35) possibly_damaging(0.484) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481 0,1 MODERATE SNV 0,1 PASS GTG . . 0.001862 0.0001339 0.0009706 0.0006698 0.004659 0.003283 0.001965 0.001793 0.001478 11332020 SLC35G5 . GRCh38 chr8 11332082 11332082 + Missense_Mutation SNP C C T rs62488717 7316-452 BS_QG3PYXB4 C C c.976C>T p.Arg326Trp p.R326W ENST00000382435 1/1 89 77 10 51 51 0 SLC35G5,missense_variant,p.Arg326Trp,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; T ENSG00000177710 ENST00000382435 Transcript missense_variant 1195/1321 976/1017 326/338 R/W Cgg/Tgg rs62488717,COSM3718698 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.17) benign(0) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 MODERATE SNV 0,1 PASS CCG . . 0.2934 0.1711 0.2975 0.3221 0.2793 0.3895 0.2956 0.2607 0.2856 11332082 SYVN1 . GRCh38 chr11 65130692 65130692 + Missense_Mutation SNP T T G rs756191256 7316-452 BS_QG3PYXB4 T T c.1073A>C p.His358Pro p.H358P ENST00000377190 11/16 51 36 9 28 25 1 SYVN1,missense_variant,p.His358Pro,ENST00000526060,;SYVN1,missense_variant,p.His358Pro,ENST00000377190,NM_172230.2;SYVN1,missense_variant,p.His358Pro,ENST00000294256,NM_032431.2;SYVN1,missense_variant,p.His307Pro,ENST00000307289,;MRPL49,downstream_gene_variant,,ENST00000279242,NM_004927.3;MRPL49,downstream_gene_variant,,ENST00000526171,;SYVN1,downstream_gene_variant,,ENST00000528487,;SYVN1,downstream_gene_variant,,ENST00000531018,;MRPL49,downstream_gene_variant,,ENST00000531705,;MRPL49,downstream_gene_variant,,ENST00000533943,;MRPL49,downstream_gene_variant,,ENST00000534078,;MIR6751,upstream_gene_variant,,ENST00000610479,;MRPL49,downstream_gene_variant,,ENST00000524482,;SYVN1,downstream_gene_variant,,ENST00000526121,;SYVN1,upstream_gene_variant,,ENST00000527765,;MRPL49,downstream_gene_variant,,ENST00000528529,;SYVN1,non_coding_transcript_exon_variant,,ENST00000449943,;SYVN1,downstream_gene_variant,,ENST00000525874,;MRPL49,downstream_gene_variant,,ENST00000526319,;SYVN1,downstream_gene_variant,,ENST00000527142,;SYVN1,downstream_gene_variant,,ENST00000529207,;SYVN1,upstream_gene_variant,,ENST00000530451,;MRPL49,downstream_gene_variant,,ENST00000532671,;SYVN1,downstream_gene_variant,,ENST00000532771,;SYVN1,downstream_gene_variant,,ENST00000533685,; G ENSG00000162298 ENST00000377190 Transcript missense_variant 1168/3052 1073/1854 358/617 H/P cAc/cCc rs756191256,COSM3746252 1 -1 SYVN1 HGNC HGNC:20738 protein_coding YES CCDS31605.1 ENSP00000366395 Q86TM6 UPI000004EE90 NM_172230.2 tolerated(0.42) benign(0) 11/16 Gene3D:3.30.40.10,Prints_domain:PR01217,hmmpanther:PTHR44251,mobidb-lite,Low_complexity_(Seg):seg benign 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.004924 0.003926 0.0007716 0.001812 0.002942 0.02095 0.006884 0.003994 0.001779 65130692 MFRP . GRCh38 chr11 119345570 119345570 + Missense_Mutation SNP T T G novel 7316-452 BS_QG3PYXB4 T T c.491A>C p.Tyr164Ser p.Y164S ENST00000619721 5/15 70 61 6 37 35 0 MFRP,missense_variant,p.Tyr164Ser,ENST00000619721,NM_031433.3;MFRP,missense_variant,p.Tyr164Ser,ENST00000360167,;MFRP,upstream_gene_variant,,ENST00000449574,;C1QTNF5,upstream_gene_variant,,ENST00000528368,NM_001278431.1,NM_015645.4;C1QTNF5,upstream_gene_variant,,ENST00000634633,;C1QTNF5,upstream_gene_variant,,ENST00000525657,;MFRP,3_prime_UTR_variant,,ENST00000634542,;MFRP,non_coding_transcript_exon_variant,,ENST00000529147,;MFRP,downstream_gene_variant,,ENST00000526059,; G ENSG00000235718 ENST00000619721 Transcript missense_variant 651/3917 491/1740 164/579 Y/S tAc/tCc 1 -1 MFRP HGNC HGNC:18121 protein_coding YES CCDS8421.1 ENSP00000481824 Q9BY79 UPI0000072615 NM_031433.3 deleterious(0) probably_damaging(1) 5/15 Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR44953,SMART_domains:SM00042,Superfamily_domains:SSF49854,cd00041,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTA . . 119345570 IGHA2 . GRCh38 chr14 105588355 105588355 + Missense_Mutation SNP T T C rs782201993 7316-452 BS_QG3PYXB4 T T c.41A>G p.Asp14Gly p.D14G ENST00000497872 1/5 63 57 5 44 43 0 IGHA2,missense_variant,p.Asp14Gly,ENST00000497872,;IGHA2,missense_variant,p.Asp14Gly,ENST00000390539,; C ENSG00000211890 ENST00000497872 Transcript missense_variant 41/1320 41/1176 14/391 D/G gAc/gGc rs782201993 1 -1 IGHA2 HGNC HGNC:5479 IG_C_gene YES ENSP00000493086 A0A286YEY5 UPI000BAD5974 tolerated(0.42) benign(0.001) 1/5 MODERATE 1 SNV 1 PASS GTC . . 2.881e-05 0.0003937 2.98e-05 105588355 IGHA2 . GRCh38 chr14 105588356 105588356 + Missense_Mutation SNP C C A rs782483239 7316-452 BS_QG3PYXB4 C C c.40G>T p.Asp14Tyr p.D14Y ENST00000497872 1/5 63 58 5 44 43 0 IGHA2,missense_variant,p.Asp14Tyr,ENST00000497872,;IGHA2,missense_variant,p.Asp14Tyr,ENST00000390539,; A ENSG00000211890 ENST00000497872 Transcript missense_variant 40/1320 40/1176 14/391 D/Y Gac/Tac rs782483239 1 -1 IGHA2 HGNC HGNC:5479 IG_C_gene YES ENSP00000493086 A0A286YEY5 UPI000BAD5974 tolerated(0.14) benign(0.028) 1/5 MODERATE 1 SNV 1 PASS TCG . . 2.882e-05 0.0003941 2.98e-05 105588356 IGHV3-11 . GRCh38 chr14 106116668 106116668 + Missense_Mutation SNP G G T novel 7316-452 BS_QG3PYXB4 G G c.320C>A p.Ala107Asp p.A107D ENST00000390601 2/2 42 31 11 43 41 1 IGHV3-11,missense_variant,p.Ala107Asp,ENST00000390601,;,regulatory_region_variant,,ENSR00000073874,;,regulatory_region_variant,,ENSR00000276368,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; T ENSG00000211941 ENST00000390601 Transcript missense_variant 440/473 320/353 107/117 A/D gCc/gAc 1 -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762 UPI0002C6D522 deleterious_low_confidence(0.04) benign(0.115) 2/2 MODERATE 1 SNV PASS GGC . . 106116668 DNM1P33 . GRCh38 chr15 74063690 74063690 + Splice_Region SNP C C A rs2636839 7316-452 BS_QG3PYXB4 C C n.175C>A ENST00000565222 2/2 83 60 23 57 54 3 DNM1P33,splice_region_variant,,ENST00000565222,; A ENSG00000260096 ENST00000565222 Transcript splice_region_variant,non_coding_transcript_exon_variant 175/270 rs2636839,COSM434267 1 1 DNM1P33 HGNC HGNC:35180 unprocessed_pseudogene YES 2/2 0,1 LOW 1 SNV 0,1 PASS ACC . . 74063690 IL32 . GRCh38 chr16 3069296 3069297 + Frame_Shift_Ins INS - - G rs71818662 7316-452 BS_QG3PYXB4 - - c.652dup p.Asp218GlyfsTer12 p.D218Gfs*12 ENST00000534507 6/6 88 68 18 58 54 1 IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000525643,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000526464,;IL32,frameshift_variant,p.Asp218GlyfsTer12,ENST00000534507,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000325568,NM_004221.4,NM_001012718.1;IL32,frameshift_variant,p.Asp218GlyfsTer12,ENST00000396890,NM_001308078.1;IL32,frameshift_variant,p.Asp152GlyfsTer12,ENST00000008180,NM_001012634.1;IL32,frameshift_variant,p.Asp152GlyfsTer12,ENST00000613483,;IL32,frameshift_variant,p.Asp218GlyfsTer12,ENST00000548476,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000528163,NM_001012631.1;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000440815,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000444393,;IL32,frameshift_variant,p.Asp163GlyfsTer12,ENST00000382213,NM_001012636.1;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000533097,;IL32,frameshift_variant,p.Asp163GlyfsTer12,ENST00000548652,;IL32,frameshift_variant,p.Asp218GlyfsTer?,ENST00000548807,;IL32,frameshift_variant,p.Asp209GlyfsTer12,ENST00000551513,;IL32,frameshift_variant,p.Asp115GlyfsTer12,ENST00000396887,NM_001012633.1;IL32,frameshift_variant,p.Asp152GlyfsTer12,ENST00000530890,NM_001012635.1;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000529550,;IL32,frameshift_variant,p.Asp162GlyfsTer12,ENST00000531965,;IL32,frameshift_variant,p.Asp115GlyfsTer12,ENST00000551122,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000552664,NM_001012632.1;IL32,frameshift_variant,p.Asp196GlyfsTer12,ENST00000552936,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000530538,;IL32,frameshift_variant,p.Asp152GlyfsTer12,ENST00000529699,;IL32,frameshift_variant,p.Asp115GlyfsTer12,ENST00000549213,;IL32,frameshift_variant,p.Asp152GlyfsTer12,ENST00000552356,;IL32,frameshift_variant,p.Asp132GlyfsTer12,ENST00000548246,;IL32,intron_variant,,ENST00000525377,;IL32,downstream_gene_variant,,ENST00000525228,;RNU1-125P,upstream_gene_variant,,ENST00000516752,;IL32,non_coding_transcript_exon_variant,,ENST00000525003,;IL32,non_coding_transcript_exon_variant,,ENST00000528652,;IL32,downstream_gene_variant,,ENST00000532086,;IL32,downstream_gene_variant,,ENST00000532247,;IL32,downstream_gene_variant,,ENST00000534748,; G ENSG00000008517 ENST00000534507 Transcript frameshift_variant 857-858/1112 646-647/705 216/234 R/RX cgg/cGgg rs71818662 1 1 IL32 HGNC HGNC:16830 protein_coding YES CCDS76811.1 ENSP00000431775 P24001 UPI0000070836 6/6 mobidb-lite HIGH 1 insertion 2 6 PASS ACG . . 0.4028 0.2297 0.3373 0.4299 0.3663 0.4342 0.4345 0.417 0.427 3069296 IL32 . GRCh38 chr16 3069303 3069303 + Missense_Mutation SNP A A G rs2981599 7316-452 BS_QG3PYXB4 A A c.653A>G p.Asp218Gly p.D218G ENST00000534507 6/6 88 65 20 55 52 2 IL32,missense_variant,p.Asp172Gly,ENST00000525643,;IL32,missense_variant,p.Asp172Gly,ENST00000526464,;IL32,missense_variant,p.Asp218Gly,ENST00000534507,;IL32,missense_variant,p.Asp172Gly,ENST00000325568,NM_004221.4,NM_001012718.1;IL32,missense_variant,p.Asp218Gly,ENST00000396890,NM_001308078.1;IL32,missense_variant,p.Asp152Gly,ENST00000008180,NM_001012634.1;IL32,missense_variant,p.Asp152Gly,ENST00000613483,;IL32,missense_variant,p.Asp218Gly,ENST00000548476,;IL32,missense_variant,p.Asp172Gly,ENST00000528163,NM_001012631.1;IL32,missense_variant,p.Asp172Gly,ENST00000440815,;IL32,missense_variant,p.Asp172Gly,ENST00000444393,;IL32,missense_variant,p.Asp163Gly,ENST00000382213,NM_001012636.1;IL32,missense_variant,p.Asp172Gly,ENST00000533097,;IL32,missense_variant,p.Asp163Gly,ENST00000548652,;IL32,missense_variant,p.Asp218Gly,ENST00000548807,;IL32,missense_variant,p.Asp209Gly,ENST00000551513,;IL32,missense_variant,p.Asp115Gly,ENST00000396887,NM_001012633.1;IL32,missense_variant,p.Asp152Gly,ENST00000530890,NM_001012635.1;IL32,missense_variant,p.Asp172Gly,ENST00000529550,;IL32,missense_variant,p.Asp162Gly,ENST00000531965,;IL32,missense_variant,p.Asp115Gly,ENST00000551122,;IL32,missense_variant,p.Asp172Gly,ENST00000552664,NM_001012632.1;IL32,missense_variant,p.Asp196Gly,ENST00000552936,;IL32,missense_variant,p.Asp172Gly,ENST00000530538,;IL32,missense_variant,p.Asp152Gly,ENST00000529699,;IL32,missense_variant,p.Asp115Gly,ENST00000549213,;IL32,missense_variant,p.Asp152Gly,ENST00000552356,;IL32,missense_variant,p.Asp132Gly,ENST00000548246,;IL32,intron_variant,,ENST00000525377,;IL32,downstream_gene_variant,,ENST00000525228,;RNU1-125P,upstream_gene_variant,,ENST00000516752,;IL32,non_coding_transcript_exon_variant,,ENST00000525003,;IL32,non_coding_transcript_exon_variant,,ENST00000528652,;IL32,downstream_gene_variant,,ENST00000532086,;IL32,downstream_gene_variant,,ENST00000532247,;IL32,downstream_gene_variant,,ENST00000534748,; G ENSG00000008517 ENST00000534507 Transcript missense_variant 864/1112 653/705 218/234 D/G gAc/gGc rs2981599,COSM1629876 1 1 IL32 HGNC HGNC:16830 protein_coding YES CCDS76811.1 ENSP00000431775 P24001 UPI0000070836 tolerated_low_confidence(0.61) benign(0) 6/6 mobidb-lite 0,1 MODERATE 1 SNV 2 0,1 PASS GAC . . 0.402 0.2298 0.336 0.43 0.3641 0.4338 0.4337 0.4158 0.4265 3069303 AXIN2 . GRCh38 chr17 65537615 65537617 + In_Frame_Del DEL TGG TGG - rs770054605 7316-452 BS_QG3PYXB4 TGG TGG c.1419_1421del p.His474del p.H474del ENST00000307078 6/11 68 56 5 42 35 0 AXIN2,inframe_deletion,p.His474del,ENST00000307078,NM_004655.3;AXIN2,inframe_deletion,p.His474del,ENST00000618960,;AXIN2,inframe_deletion,p.His474del,ENST00000375702,;AXIN2,intron_variant,,ENST00000611991,;AC004805.1,downstream_gene_variant,,ENST00000577662,;AXIN2,upstream_gene_variant,,ENST00000578251,; - ENSG00000168646 ENST00000307078 Transcript inframe_deletion 1733-1735/4259 1419-1421/2532 473-474/843 HH/H caCCAt/cat rs770054605 1 -1 AXIN2 HGNC HGNC:904 protein_coding YES CCDS11662.1 ENSP00000302625 Q9Y2T1 UPI00001AEE5A NM_004655.3 6/11 hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF103,mobidb-lite,Low_complexity_(Seg):seg likely_benign MODERATE 1 deletion 1 1 1 PASS AATGGT . . 0.0005997 0.0003089 0.0004217 0.0002294 0.0002672 0.001484 0.0007672 0.000416 0.0002154 65537614 PRR36 . GRCh38 chr19 7870993 7870993 + Missense_Mutation SNP G G A rs12984448 7316-452 BS_QG3PYXB4 G G c.2251C>T p.Pro751Ser p.P751S ENST00000618550 5/6 44 34 7 24 23 0 PRR36,missense_variant,p.Pro751Ser,ENST00000618550,NM_001190467.1;PRR36,intron_variant,,ENST00000615988,;AC010336.3,intron_variant,,ENST00000597156,; A ENSG00000183248 ENST00000618550 Transcript missense_variant 2352/4456 2251/4041 751/1346 P/S Ccc/Tcc rs12984448 1 -1 PRR36 HGNC HGNC:26172 protein_coding YES CCDS74276.1 ENSP00000482374 Q9H6K5 UPI0001DA930F NM_001190467.1 tolerated_low_confidence(0.28) unknown(0) 5/6 hmmpanther:PTHR22427,hmmpanther:PTHR22427,hmmpanther:PTHR22427:SF6,hmmpanther:PTHR22427:SF6,mobidb-lite MODERATE SNV 5 PASS GGA . . 0.002762 0.0004367 0.006935 0.002703 0.00279 0.001398 0.01255 7870993 PRR36 . GRCh38 chr19 7870999 7870999 + Missense_Mutation SNP A A G rs12974877 7316-452 BS_QG3PYXB4 A A c.2245T>C p.Ser749Pro p.S749P ENST00000618550 5/6 46 33 9 23 22 0 PRR36,missense_variant,p.Ser749Pro,ENST00000618550,NM_001190467.1;PRR36,intron_variant,,ENST00000615988,;AC010336.3,intron_variant,,ENST00000597156,; G ENSG00000183248 ENST00000618550 Transcript missense_variant 2346/4456 2245/4041 749/1346 S/P Tct/Cct rs12974877,COSM6280753 1 -1 PRR36 HGNC HGNC:26172 protein_coding YES CCDS74276.1 ENSP00000482374 Q9H6K5 UPI0001DA930F NM_001190467.1 tolerated(0.26) unknown(0) 5/6 hmmpanther:PTHR22427,hmmpanther:PTHR22427,hmmpanther:PTHR22427:SF6,hmmpanther:PTHR22427:SF6,mobidb-lite 0,1 MODERATE SNV 5 0,1 PASS GAA . . 0.002412 0.0004452 0.007948 0.003567 0.0009007 0.01155 7870999 PRR36 . GRCh38 chr19 7871002 7871002 + Missense_Mutation SNP C C G rs12978074 7316-452 BS_QG3PYXB4 C C c.2242G>C p.Ala748Pro p.A748P ENST00000618550 5/6 45 32 9 23 22 0 PRR36,missense_variant,p.Ala748Pro,ENST00000618550,NM_001190467.1;PRR36,intron_variant,,ENST00000615988,;AC010336.3,intron_variant,,ENST00000597156,; G ENSG00000183248 ENST00000618550 Transcript missense_variant 2343/4456 2242/4041 748/1346 A/P Gct/Cct rs12978074,COSM6280735 1 -1 PRR36 HGNC HGNC:26172 protein_coding YES CCDS74276.1 ENSP00000482374 Q9H6K5 UPI0001DA930F NM_001190467.1 tolerated_low_confidence(0.29) unknown(0) 5/6 hmmpanther:PTHR22427,hmmpanther:PTHR22427,hmmpanther:PTHR22427:SF6,hmmpanther:PTHR22427:SF6,mobidb-lite 0,1 MODERATE SNV 5 0,1 PASS GCT . . 0.002365 0.0005056 0.008527 0.004167 0.0008043 0.009395 7871002 B3GNT3 . GRCh38 chr19 17807967 17807967 + Missense_Mutation SNP A A C rs1412759974 7316-452 BS_QG3PYXB4 A A c.160A>C p.Thr54Pro p.T54P ENST00000318683 2/3 35 26 9 14 14 0 B3GNT3,missense_variant,p.Thr54Pro,ENST00000318683,NM_014256.3;B3GNT3,missense_variant,p.Thr54Pro,ENST00000595387,;B3GNT3,missense_variant,p.Thr54Pro,ENST00000599265,;B3GNT3,missense_variant,p.Thr54Pro,ENST00000600777,; C ENSG00000179913 ENST00000318683 Transcript missense_variant 307/2226 160/1119 54/372 T/P Acc/Ccc rs1412759974,COSM1189939 1 1 B3GNT3 HGNC HGNC:13528 protein_coding YES CCDS12364.1 ENSP00000321874 Q9Y2A9 UPI000007021E NM_014256.3 tolerated(0.38) benign(0) 2/3 hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF23,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CAC . . 0.03819 0.02599 0.1154 0.06533 0.07223 0.01239 0.02188 0.06604 0.04015 17807967 IGSF3 . GRCh38 chr1 116599991 116599991 + Missense_Mutation SNP C C T rs76151115 7316-914 BS_BT4WRQCA C C c.2039G>A p.Arg680Gln p.R680Q ENST00000369483 8/12 63 52 9 36 36 0 IGSF3,missense_variant,p.Arg680Gln,ENST00000369483,NM_001542.3;IGSF3,missense_variant,p.Arg660Gln,ENST00000369486,NM_001007237.2;IGSF3,missense_variant,p.Arg680Gln,ENST00000318837,; T ENSG00000143061 ENST00000369483 Transcript missense_variant 2807/7326 2039/3645 680/1214 R/Q cGa/cAa rs76151115,COSM3773404,COSM3773403 1 -1 IGSF3 HGNC HGNC:5950 protein_coding YES CCDS30814.1 ENSP00000358495 O75054 UPI0000140437 NM_001542.3 tolerated(0.08) possibly_damaging(0.476) 8/12 hmmpanther:PTHR12207:SF21,hmmpanther:PTHR12207,Gene3D:2.60.40.10,SMART_domains:SM00409 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS TCG . . 0.003214 0.003207 0.001427 0.0007514 0.004202 0.01034 0.003358 0.001567 0.0007029 116599991 IGSF3 . GRCh38 chr1 116600019 116600019 + Missense_Mutation SNP G G A rs76417519 7316-914 BS_BT4WRQCA G G c.2011C>T p.Arg671Trp p.R671W ENST00000369483 8/12 64 54 8 27 27 0 IGSF3,missense_variant,p.Arg671Trp,ENST00000369483,NM_001542.3;IGSF3,missense_variant,p.Arg651Trp,ENST00000369486,NM_001007237.2;IGSF3,missense_variant,p.Arg671Trp,ENST00000318837,; A ENSG00000143061 ENST00000369483 Transcript missense_variant 2779/7326 2011/3645 671/1214 R/W Cgg/Tgg rs76417519,COSM4142193,COSM4142192 1 -1 IGSF3 HGNC HGNC:5950 protein_coding YES CCDS30814.1 ENSP00000358495 O75054 UPI0000140437 NM_001542.3 deleterious(0) probably_damaging(0.996) 8/12 hmmpanther:PTHR12207:SF21,hmmpanther:PTHR12207,Gene3D:2.60.40.10,SMART_domains:SM00409 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS CGC . . 0.002751 0.001326 0.001387 0.0008613 0.001428 0.005665 0.003553 0.001934 0.001694 116600019 NBPF25P . GRCh38 chr1 145574818 145574818 + Splice_Region SNP C C T rs1476250610 7316-914 BS_BT4WRQCA C C n.2232+3G>A ENST00000619932 86 56 28 58 55 3 NBPF25P,splice_region_variant,,ENST00000619932,;NBPF25P,splice_region_variant,,ENST00000606775,; T ENSG00000272150 ENST00000619932 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1476250610 1 -1 NBPF25P HGNC HGNC:45046 processed_transcript YES 18/19 LOW 1 SNV 2 PASS TCA . . 145574818 LBR . GRCh38 chr1 225412649 225412650 + Splice_Region INS - - A rs769413430 7316-914 BS_BT4WRQCA - - c.893-5dup ENST00000338179 63 33 13 33 30 0 LBR,splice_region_variant,,ENST00000272163,NM_002296.3;LBR,splice_region_variant,,ENST00000338179,NM_194442.2;LBR,downstream_gene_variant,,ENST00000487054,;LBR,upstream_gene_variant,,ENST00000424022,; A ENSG00000143815 ENST00000338179 Transcript splice_region_variant,intron_variant rs769413430 1 -1 LBR HGNC HGNC:6518 protein_coding YES CCDS1545.1 ENSP00000339883 Q14739 UPI000012E256 NM_194442.2 7/13 LOW 1 insertion 5 1 PASS TTA . . 0.1504 0.147 0.1617 0.1811 0.1439 0.1196 0.1486 0.1686 0.1586 225412649 RASA1 . GRCh38 chr5 87372190 87372190 + Missense_Mutation SNP C C T 7316-914 BS_BT4WRQCA C C c.1771C>T p.Arg591Cys p.R591C ENST00000274376 13/25 152 99 52 68 68 0 RASA1,missense_variant,p.Arg414Cys,ENST00000456692,NM_022650.2;RASA1,missense_variant,p.Arg591Cys,ENST00000274376,NM_002890.2;RASA1,missense_variant,p.Arg424Cys,ENST00000512763,;RASA1,missense_variant,p.Arg425Cys,ENST00000506290,;CCNH,downstream_gene_variant,,ENST00000607486,;RASA1,3_prime_UTR_variant,,ENST00000515800,;CCNH,intron_variant,,ENST00000645953,;RASA1,downstream_gene_variant,,ENST00000509953,;CCNH,downstream_gene_variant,,ENST00000646883,; T ENSG00000145715 ENST00000274376 Transcript missense_variant 2335/3752 1771/3144 591/1047 R/C Cgt/Tgt COSM3856759,COSM3856758 1 1 RASA1 HGNC HGNC:9871 protein_coding YES CCDS34200.1 ENSP00000274376 P20936 UPI00001351F3 NM_002890.2 deleterious(0) probably_damaging(0.932) 13/25 Gene3D:2.30.29.30,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF19,cd08400 1,1 MODERATE 1 SNV 1 1,1 1 PASS TCG . . 87372190 HLA-DRB1 . GRCh38 chr6 32584219 32584219 + Missense_Mutation SNP G G T rs1059584 7316-914 BS_BT4WRQCA G G c.260C>A p.Ala87Asp p.A87D ENST00000360004 2/6 43 33 8 32 31 0 HLA-DRB1,missense_variant,p.Ala87Asp,ENST00000360004,NM_002124.3;,regulatory_region_variant,,ENSR00000195690,; T ENSG00000196126 ENST00000360004 Transcript missense_variant 366/1229 260/801 87/266 A/D gCt/gAt rs1059584,COSM3348768 1 -1 HLA-DRB1 HGNC HGNC:4948 protein_coding YES CCDS47409.1 ENSP00000353099 Q29974,P01911,Q9GIY3,P04229 X5DNQ0,D7RIH8 UPI000008A1F7 NM_002124.3 deleterious(0) probably_damaging(1) 2/6 PDB-ENSP_mappings:1bx2.B,PDB-ENSP_mappings:1bx2.E,PDB-ENSP_mappings:1ymm.B,PDB-ENSP_mappings:2wbj.B,PDB-ENSP_mappings:2wbj.F,PDB-ENSP_mappings:5v4m.C,PDB-ENSP_mappings:5v4m.F,PDB-ENSP_mappings:5v4m.I,PDB-ENSP_mappings:5v4m.L,Gene3D:3.10.320.10,Pfam_domain:PF00969,SMART_domains:SM00921,Superfamily_domains:SSF54452,hmmpanther:PTHR19944:SF84,hmmpanther:PTHR19944,blastprodom:PD000328 0.0823 0.1445 0.0663 0.0427 0.0885 0.044 0,1 MODERATE 1 SNV 0,1 1 PASS AGC . . 0.009821 0.04129 0.01053 0.009142 0.0007676 0.002556 0.01039 0.01096 0.002524 32584219 DGKB . GRCh38 chr7 14338625 14338625 + Missense_Mutation SNP T T C novel 7316-914 BS_BT4WRQCA T T c.2015A>G p.Asn672Ser p.N672S ENST00000403951 23/26 100 88 7 42 42 0 DGKB,missense_variant,p.Asn672Ser,ENST00000403951,NM_001350705.1,NM_001350706.1,NM_001350707.1,NM_001350716.1,NM_001350723.1,NM_001350715.1,NM_001350709.1,NM_001350724.1,NM_001350722.1,NM_001350708.1,NM_001350712.1,NM_001350711.1,NM_001350714.1;DGKB,missense_variant,p.Asn672Ser,ENST00000399322,NM_004080.2,NM_001350723.1,NM_001350724.1,NM_001350722.1;DGKB,missense_variant,p.Asn671Ser,ENST00000402815,;DGKB,missense_variant,p.Asn664Ser,ENST00000407950,;DGKB,missense_variant,p.Asn672Ser,ENST00000406247,NM_145695.2;DGKB,non_coding_transcript_exon_variant,,ENST00000403963,; C ENSG00000136267 ENST00000403951 Transcript missense_variant 2435/6917 2015/2415 672/804 N/S aAt/aGt 1 -1 DGKB HGNC HGNC:2850 protein_coding YES CCDS47547.1 ENSP00000385780 Q9Y6T7 UPI0000033B9B NM_001350705.1,NM_001350706.1,NM_001350707.1,NM_001350716.1,NM_001350723.1,NM_001350715.1,NM_001350709.1,NM_001350724.1,NM_001350722.1,NM_001350708.1,NM_001350712.1,NM_001350711.1,NM_001350714.1 deleterious(0) probably_damaging(0.916) 23/26 hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF32,Pfam_domain:PF00609,SMART_domains:SM00045,Superfamily_domains:SSF111331 MODERATE 1 SNV 5 PASS ATT . . 14338625 STRIP2 . GRCh38 chr7 129451700 129451700 + Missense_Mutation SNP G G C novel 7316-914 BS_BT4WRQCA G G c.362G>C p.Arg121Thr p.R121T ENST00000249344 4/21 81 44 37 41 41 0 STRIP2,missense_variant,p.Arg121Thr,ENST00000249344,NM_020704.2;STRIP2,missense_variant,p.Arg121Thr,ENST00000435494,NM_001134336.1; C ENSG00000128578 ENST00000249344 Transcript missense_variant 402/5115 362/2505 121/834 R/T aGg/aCg 1 1 STRIP2 HGNC HGNC:22209 protein_coding YES CCDS34752.1 ENSP00000249344 Q9ULQ0 UPI00001C1E68 NM_020704.2 deleterious(0.02) probably_damaging(0.966) 4/21 hmmpanther:PTHR13239:SF6,hmmpanther:PTHR13239,Pfam_domain:PF07923,SMART_domains:SM01292 MODERATE 1 SNV 1 PASS AGG . . 129451700 ADCK5 . GRCh38 chr8 144390713 144390713 + Missense_Mutation SNP G G T novel 7316-914 BS_BT4WRQCA G G c.309G>T p.Trp103Cys p.W103C ENST00000308860 4/15 98 63 33 31 30 0 ADCK5,missense_variant,p.Trp103Cys,ENST00000308860,NM_174922.4;CPSF1,downstream_gene_variant,,ENST00000531727,;CPSF1,downstream_gene_variant,,ENST00000532935,;CPSF1,downstream_gene_variant,,ENST00000616140,NM_013291.2;CPSF1,downstream_gene_variant,,ENST00000620219,;MIR939,downstream_gene_variant,,ENST00000401314,;ADCK5,non_coding_transcript_exon_variant,,ENST00000526231,;ADCK5,non_coding_transcript_exon_variant,,ENST00000534714,;ADCK5,missense_variant,p.Trp103Cys,ENST00000529654,;ADCK5,3_prime_UTR_variant,,ENST00000533715,;ADCK5,3_prime_UTR_variant,,ENST00000526833,;ADCK5,non_coding_transcript_exon_variant,,ENST00000532190,;CPSF1,downstream_gene_variant,,ENST00000526271,;CPSF1,downstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000531042,;CPSF1,downstream_gene_variant,,ENST00000531480,;CPSF1,downstream_gene_variant,,ENST00000532725,; T ENSG00000173137 ENST00000308860 Transcript missense_variant 353/1949 309/1743 103/580 W/C tgG/tgT 1 1 ADCK5 HGNC HGNC:21738 protein_coding YES CCDS34965.2 ENSP00000310547 Q3MIX3 UPI00005B7249 NM_174922.4 deleterious(0) probably_damaging(0.99) 4/15 hmmpanther:PTHR43173,hmmpanther:PTHR43173:SF6 MODERATE 1 SNV 1 PASS GGT . . 144390713 PRSS3 . GRCh38 chr9 33796805 33796809 + Splice_Region DEL AAGTG AAGTG - rs757067965 7316-914 BS_BT4WRQCA AAGTG AAGTG c.371+3_371+7del ENST00000361005 85 78 6 49 49 0 PRSS3,splice_region_variant,,ENST00000342836,NM_001197097.2;PRSS3,splice_region_variant,,ENST00000361005,NM_007343.3;PRSS3,splice_region_variant,,ENST00000379405,NM_002771.3;PRSS3,splice_region_variant,,ENST00000429677,NM_001197098.1;PRSS3,splice_region_variant,,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,splice_region_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00000334924,; - ENSG00000010438 ENST00000361005 Transcript splice_region_variant,intron_variant rs757067965,COSM5110361,COSM5110362,COSM5110363,COSM5110364 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 2/4 0,1,1,1,1 LOW 1 deletion 1 0,1,1,1,1 PASS GTAAGTGT . . 33796804 SVIL . GRCh38 chr10 29490918 29490918 + Missense_Mutation SNP A A C rs199726033 7316-914 BS_BT4WRQCA A A c.4121T>G p.Leu1374Arg p.L1374R ENST00000355867 22/38 88 72 15 40 39 0 SVIL,missense_variant,p.Leu1342Arg,ENST00000375398,;SVIL,missense_variant,p.Leu1374Arg,ENST00000355867,NM_001323599.1,NM_021738.2;SVIL,missense_variant,p.Leu948Arg,ENST00000375400,NM_001323600.1,NM_003174.3;SVIL,missense_variant,p.Leu300Arg,ENST00000632315,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL-AS1,downstream_gene_variant,,ENST00000413405,;SVIL,upstream_gene_variant,,ENST00000482607,;SVIL,downstream_gene_variant,,ENST00000491872,; C ENSG00000197321 ENST00000355867 Transcript missense_variant 4874/7586 4121/6645 1374/2214 L/R cTc/cGc rs199726033,COSM146919 1 -1 SVIL HGNC HGNC:11480 protein_coding YES CCDS7164.1 ENSP00000348128 O95425 UPI0000366678 NM_001323599.1,NM_021738.2 deleterious(0) possibly_damaging(0.506) 22/38 hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF45 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.1071 0.01054 0.06654 0.2243 0.01734 0.1831 0.1105 0.1149 0.1928 29490918 AL360181.3 . GRCh38 chr10 133391089 133391089 + Translation_Start_Site SNP A A G rs1190669226 7316-914 BS_BT4WRQCA A A c.1A>G p.Met1? p.M1? ENST00000468317 1/12 41 29 8 22 22 0 AL360181.3,start_lost,p.Met1?,ENST00000468317,;PAOX,intron_variant,,ENST00000278060,NM_152911.3;PAOX,intron_variant,,ENST00000357296,NM_207128.2;PAOX,intron_variant,,ENST00000480071,NM_207127.2;MTG1,upstream_gene_variant,,ENST00000317502,NM_138384.2;MTG1,upstream_gene_variant,,ENST00000432508,;MTG1,upstream_gene_variant,,ENST00000477902,;PAOX,non_coding_transcript_exon_variant,,ENST00000530555,;PAOX,intron_variant,,ENST00000368535,;PAOX,intron_variant,,ENST00000356306,;PAOX,intron_variant,,ENST00000476834,;PAOX,intron_variant,,ENST00000483211,;PAOX,intron_variant,,ENST00000529585,;MTG1,upstream_gene_variant,,ENST00000460848,;MTG1,upstream_gene_variant,,ENST00000473735,;MTG1,upstream_gene_variant,,ENST00000495014,;MTG1,upstream_gene_variant,,ENST00000498790,; G ENSG00000254536 ENST00000468317 Transcript start_lost 256/1605 1/1020 1/339 M/V Atg/Gtg rs1190669226 1 1 AL360181.3 Clone_based_ensembl_gene protein_coding YES ENSP00000436767 E9PI62 UPI0000D4C5CD deleterious_low_confidence(0) unknown(0) 1/12 HIGH SNV 5 PASS GAT . . 1.663e-05 4.403e-05 2.307e-05 133391089 SLC5A12 . GRCh38 chr11 26712675 26712675 + Missense_Mutation SNP C C T rs777025065 7316-914 BS_BT4WRQCA C C c.371G>A p.Arg124His p.R124H ENST00000396005 2/15 79 44 31 36 36 0 SLC5A12,missense_variant,p.Arg124His,ENST00000396005,NM_178498.3;SLC5A12,missense_variant,p.Arg124His,ENST00000280467,;SLC5A12,5_prime_UTR_variant,,ENST00000533617,;SLC5A12,5_prime_UTR_variant,,ENST00000527405,;SLC5A12,non_coding_transcript_exon_variant,,ENST00000528822,; T ENSG00000148942 ENST00000396005 Transcript missense_variant 681/6250 371/1857 124/618 R/H cGc/cAc rs777025065 1 -1 SLC5A12 HGNC HGNC:28750 protein_coding YES CCDS7860.2 ENSP00000379326 Q1EHB4 UPI000003ED2C NM_178498.3 deleterious(0) probably_damaging(0.996) 2/15 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,cd11520,hmmpanther:PTHR42985,hmmpanther:PTHR42985:SF15,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474 MODERATE 1 SNV 1 PASS GCG . . 1.221e-05 4.488e-05 1.796e-05 26712675 GLYATL1 . GRCh38 chr11 58943594 58943594 + Nonsense_Mutation SNP C C T rs147536227 7316-914 BS_BT4WRQCA C C c.76C>T p.Arg26Ter p.R26* ENST00000300079 2/7 88 62 22 42 42 0 GLYATL1,stop_gained,p.Arg26Ter,ENST00000300079,NM_080661.4;GLYATL1,stop_gained,p.Arg18Ter,ENST00000526351,;GLYATL1,5_prime_UTR_variant,,ENST00000317391,NM_001220496.2,NM_001220494.2;GLYATL1,5_prime_UTR_variant,,ENST00000525608,;GLYATL1,5_prime_UTR_variant,,ENST00000532726,;GLYATL1,upstream_gene_variant,,ENST00000612196,;AP001636.3,intron_variant,,ENST00000533954,;GLYATL1,non_coding_transcript_exon_variant,,ENST00000533864,;GLYATL1,non_coding_transcript_exon_variant,,ENST00000524403,;GLYATL1,non_coding_transcript_exon_variant,,ENST00000534674,;GLYATL1,upstream_gene_variant,,ENST00000534063,;GLYATL1,stop_gained,p.Arg18Ter,ENST00000530240,;GLYATL1,stop_gained,p.Arg26Ter,ENST00000527708,;GLYATL1,stop_gained,p.Arg18Ter,ENST00000524881,;GLYATL1,stop_gained,p.Arg26Ter,ENST00000530774,;GLYATL1,stop_gained,p.Arg18Ter,ENST00000534612,;GLYATL1,non_coding_transcript_exon_variant,,ENST00000534241,;GLYATL1,non_coding_transcript_exon_variant,,ENST00000531245,;GLYATL1,upstream_gene_variant,,ENST00000534119,; T ENSG00000166840 ENST00000300079 Transcript stop_gained 126/2068 76/1002 26/333 R/* Cga/Tga rs147536227 1 1 GLYATL1 HGNC HGNC:30519 protein_coding YES CCDS31556.1 ENSP00000300079 Q969I3 UPI000006ED98 NM_080661.4 2/7 0.0004 0.002 0.0002272 0.0005821 HIGH 1 SNV 2 PASS GCG . . 0.0003705 0.0003275 5.972e-05 0.0007461 0.0003671 58943594 MS4A2 . GRCh38 chr11 60093566 60093566 + Splice_Region DEL T T - rs771325371 7316-914 BS_BT4WRQCA T T c.537+16del ENST00000278888 92 78 6 40 38 0 MS4A2,splice_region_variant,,ENST00000278888,NM_000139.4;MS4A2,splice_region_variant,,ENST00000617306,NM_001256916.1;MS4A2,downstream_gene_variant,,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,; - ENSG00000149534 ENST00000278888 Transcript splice_region_variant,intron_variant rs771325371,COSM4703299 1 1 MS4A2 HGNC HGNC:7316 protein_coding YES CCDS7980.1 ENSP00000278888 Q01362 UPI0000038E6F NM_000139.4 5/6 0,1 LOW 1 deletion 1 8 0,1 1 PASS TATT . . 2.496e-05 6.669e-05 3.674e-05 0.0001871 60093565 SNX19 . GRCh38 chr11 130910374 130910375 + Splice_Region INS - - A rs554200347 7316-914 BS_BT4WRQCA - - c.1814-5_1814-4insT ENST00000265909 75 67 8 32 32 0 SNX19,splice_region_variant,,ENST00000265909,NM_014758.2;SNX19,splice_region_variant,,ENST00000528555,NM_001301089.1;SNX19,splice_region_variant,,ENST00000530356,;SNX19,splice_region_variant,,ENST00000533214,NM_001347921.1;SNX19,upstream_gene_variant,,ENST00000534726,;SNX19,splice_region_variant,,ENST00000533318,;SNX19,upstream_gene_variant,,ENST00000524460,;SNX19,upstream_gene_variant,,ENST00000526579,;SNX19,splice_region_variant,,ENST00000531608,;SNX19,upstream_gene_variant,,ENST00000527451,; A ENSG00000120451 ENST00000265909 Transcript splice_region_variant,intron_variant rs554200347 1 -1 SNX19 HGNC HGNC:21532 protein_coding YES CCDS31721.1 ENSP00000265909 Q92543 UPI000013D6A5 NM_014758.2 2/10 0.0173 0.01691 0.01014 0.0218 0.0219 0.01331 LOW 1 insertion 1 PASS TCC . . 0.07025 0.09555 0.1106 0.07425 0.0814 0.03203 0.06316 0.079 0.06929 130910374 SPESP1 . GRCh38 chr15 68946106 68946106 + Missense_Mutation SNP G A A rs3743093 7316-914 BS_BT4WRQCA G G c.572G>A p.Gly191Glu p.G191E ENST00000310673 2/2 48 3 43 36 27 9 SPESP1,missense_variant,p.Gly191Glu,ENST00000310673,NM_145658.3;NOX5,intron_variant,,ENST00000260364,;NOX5,intron_variant,,ENST00000448182,;NOX5,intron_variant,,ENST00000455873,NM_001184780.1;SPESP1,non_coding_transcript_exon_variant,,ENST00000560188,;SPESP1,downstream_gene_variant,,ENST00000561467,;AC027088.1,intron_variant,,ENST00000557966,; A ENSG00000258484 ENST00000310673 Transcript missense_variant 726/1431 572/1053 191/350 G/E gGg/gAg rs3743093,COSM4128373 1 1 SPESP1 HGNC HGNC:15570 protein_coding YES CCDS10230.1 ENSP00000312284 Q6UW49 UPI0000072E8F NM_145658.3 tolerated(0.61) benign(0) 2/2 Pfam_domain:PF15754,hmmpanther:PTHR31667 0.5345 0.6399 0.464 0.4623 0.5905 0.4591 0.5914 0.6068 0,1 21488854 MODERATE 1 SNV 1 0,1 PASS GGG . . 0.5413 0.5935 0.4072 0.5551 0.4631 0.5774 0.6048 0.5627 0.4412 68946106 PCSK6 . GRCh38 chr15 101489564 101489572 + In_Frame_Del DEL GCGCCCCCC GCGCCCCCC - rs572853288 7316-914 BS_BT4WRQCA GCGCCCCCC GCGCCCCCC c.99_107del p.Ala36_Gly38del p.A36_G38del ENST00000611716 1/22 53 7 32 4 4 0 PCSK6,inframe_deletion,p.Ala36_Gly38del,ENST00000611716,NM_002570.4;PCSK6,inframe_deletion,p.Ala36_Gly38del,ENST00000618548,NM_138319.3;PCSK6,inframe_deletion,p.Ala36_Gly38del,ENST00000611967,NM_138324.2;PCSK6,inframe_deletion,p.Ala36_Gly38del,ENST00000622483,;PCSK6,inframe_deletion,p.Ala36_Gly38del,ENST00000619160,;PCSK6,inframe_deletion,p.Ala36_Gly38del,ENST00000615296,NM_138323.2;PCSK6,inframe_deletion,p.Ala36_Gly38del,ENST00000331826,NM_138325.3;PCSK6,upstream_gene_variant,,ENST00000559417,NM_138322.3;PCSK6,intron_variant,,ENST00000557794,;,regulatory_region_variant,,ENSR00000082044,; - ENSG00000140479 ENST00000611716 Transcript inframe_deletion 268-276/4409 99-107/2910 33-36/969 AGGA/A gcGGGGGGCGCc/gcc rs572853288 1 -1 PCSK6 HGNC HGNC:8569 protein_coding YES CCDS73790.1 ENSP00000482760 P29122 UPI00001311D0 NM_002570.4 1/22 mobidb-lite,Low_complexity_(Seg):seg 0.1182 0.1732 0.0648 0.124 0.0408 0.1554 MODERATE 1 deletion 1 PASS CGGCGCCCCCCG . . 101489563 ANKRD30B . GRCh38 chr18 14779987 14779987 + Missense_Mutation SNP G G A rs76927023 7316-914 BS_BT4WRQCA G G c.1448G>A p.Arg483Gln p.R483Q ENST00000358984 11/36 83 58 21 55 52 2 ANKRD30B,missense_variant,p.Arg483Gln,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Arg483Gln,ENST00000580206,; A ENSG00000180777 ENST00000358984 Transcript missense_variant 1628/4359 1448/4179 483/1392 R/Q cGa/cAa rs76927023,COSM1303595,COSM1303594 1 1 ANKRD30B HGNC HGNC:24165 protein_coding YES CCDS54182.1 ENSP00000351875 Q9BXX2 UPI0000425FF7 NM_001145029.1 tolerated(1) benign(0.003) 11/36 hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF46 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGA . . 0.0869 0.09559 0.07312 0.02879 0.07295 0.06293 0.1118 0.06701 0.06025 14779987 ANKRD30B . GRCh38 chr18 14780025 14780025 + Splice_Region SNP T T C rs79199021 7316-914 BS_BT4WRQCA T T c.1482+4T>C ENST00000358984 87 61 23 62 58 2 ANKRD30B,splice_region_variant,,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,splice_region_variant,,ENST00000580206,; C ENSG00000180777 ENST00000358984 Transcript splice_region_variant,intron_variant rs79199021,COSM5424334,COSM5424333 1 1 ANKRD30B HGNC HGNC:24165 protein_coding YES CCDS54182.1 ENSP00000351875 Q9BXX2 UPI0000425FF7 NM_001145029.1 11/35 0,1,1 LOW 1 SNV 1 0,1,1 PASS ATT . . 0.1274 0.136 0.1046 0.04675 0.113 0.1058 0.16 0.09454 0.08907 14780025 PIH1D1 . GRCh38 chr19 49450796 49450796 + Missense_Mutation SNP A A C novel 7316-914 BS_BT4WRQCA A A c.143T>G p.Ile48Ser p.I48S ENST00000262265 2/9 77 49 27 39 36 1 PIH1D1,missense_variant,p.Ile48Ser,ENST00000262265,NM_017916.2;PIH1D1,missense_variant,p.Ile37Ser,ENST00000601807,;PIH1D1,missense_variant,p.Ile48Ser,ENST00000596049,;PIH1D1,missense_variant,p.Ile37Ser,ENST00000597415,;PIH1D1,missense_variant,p.Ile48Ser,ENST00000599366,;PIH1D1,missense_variant,p.Ile48Ser,ENST00000601825,;ALDH16A1,upstream_gene_variant,,ENST00000293350,NM_153329.3;ALDH16A1,upstream_gene_variant,,ENST00000455361,NM_001145396.1;ALDH16A1,upstream_gene_variant,,ENST00000540132,;PIH1D1,downstream_gene_variant,,ENST00000595550,;PIH1D1,upstream_gene_variant,,ENST00000600875,;ALDH16A1,upstream_gene_variant,,ENST00000598015,;PIH1D1,upstream_gene_variant,,ENST00000602226,;PIH1D1,missense_variant,p.Ile14Ser,ENST00000596916,;PIH1D1,missense_variant,p.Ile34Ser,ENST00000601053,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000595074,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000599791,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000593900,;PIH1D1,non_coding_transcript_exon_variant,,ENST00000595516,;ALDH16A1,upstream_gene_variant,,ENST00000593417,;PIH1D1,upstream_gene_variant,,ENST00000593629,;PIH1D1,upstream_gene_variant,,ENST00000594845,;PIH1D1,upstream_gene_variant,,ENST00000595633,;PIH1D1,upstream_gene_variant,,ENST00000596651,;PIH1D1,upstream_gene_variant,,ENST00000596895,;PIH1D1,upstream_gene_variant,,ENST00000597577,;PIH1D1,upstream_gene_variant,,ENST00000598175,;PIH1D1,upstream_gene_variant,,ENST00000598889,;ALDH16A1,upstream_gene_variant,,ENST00000599652,;PIH1D1,upstream_gene_variant,,ENST00000602076,; C ENSG00000104872 ENST00000262265 Transcript missense_variant 379/1192 143/873 48/290 I/S aTc/aGc 1 -1 PIH1D1 HGNC HGNC:26075 protein_coding YES CCDS12765.1 ENSP00000262265 Q9NWS0 UPI000006F844 NM_017916.2 deleterious(0) benign(0.15) 2/9 Pfam_domain:PF08190,hmmpanther:PTHR22997,hmmpanther:PTHR22997:SF0 MODERATE 1 SNV 1 PASS GAT . . 49450796 KCNC3 . GRCh38 chr19 50320779 50320779 + Missense_Mutation SNP G G A rs748735877 7316-914 BS_BT4WRQCA G G c.1984C>T p.Arg662Cys p.R662C ENST00000477616 3/5 71 44 26 41 41 0 KCNC3,missense_variant,p.Arg662Cys,ENST00000376959,;KCNC3,missense_variant,p.Arg662Cys,ENST00000477616,NM_004977.2;KCNC3,5_prime_UTR_variant,,ENST00000474951,; A ENSG00000131398 ENST00000477616 Transcript missense_variant 2279/3176 1984/2274 662/757 R/C Cgc/Tgc rs748735877,COSM6993552 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 deleterious_low_confidence(0) possibly_damaging(0.586) 3/5 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF184 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGA . . 2.456e-05 0.0001019 5.8e-05 2.721e-05 3.25e-05 50320779 PIWIL3 . GRCh38 chr22 24762457 24762457 + Missense_Mutation SNP G G A rs777137117 7316-914 BS_BT4WRQCA G G c.43C>T p.Arg15Cys p.R15C ENST00000332271 2/21 47 41 6 35 35 0 PIWIL3,missense_variant,p.Arg15Cys,ENST00000332271,NM_001008496.3,NM_001255975.1;PIWIL3,missense_variant,p.Arg15Cys,ENST00000616349,;PIWIL3,5_prime_UTR_variant,,ENST00000533313,;PIWIL3,5_prime_UTR_variant,,ENST00000527701,;PIWIL3,non_coding_transcript_exon_variant,,ENST00000532537,; A ENSG00000184571 ENST00000332271 Transcript missense_variant 460/3504 43/2649 15/882 R/C Cgc/Tgc rs777137117,COSM6094945 1 -1 PIWIL3 HGNC HGNC:18443 protein_coding YES CCDS33623.1 ENSP00000330031 Q7Z3Z3 UPI00002073D6 NM_001008496.3,NM_001255975.1 tolerated(0.09) benign(0.366) 2/21 Low_complexity_(Seg):seg,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CGG . . 2.034e-05 2.984e-05 1.794e-05 6.51e-05 24762457 RPTN . GRCh38 chr1 152155775 152155775 + Missense_Mutation SNP G G T rs200476424 7316-321 BS_1EWXJPWR G G c.1324C>A p.Pro442Thr p.P442T ENST00000316073 3/3 45 34 8 24 23 0 RPTN,missense_variant,p.Pro442Thr,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; T ENSG00000215853 ENST00000316073 Transcript missense_variant 1389/3569 1324/2355 442/784 P/T Cca/Aca rs200476424,COSM6289039 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0,1 MODERATE 1 SNV 1 0,1 PASS GGC . . 0.01446 0.02664 0.01944 0.008866 0.04347 0.001333 0.01226 0.02206 0.01098 152155775 FLG2 . GRCh38 chr1 152354649 152354649 + Missense_Mutation SNP T T A 7316-321 BS_1EWXJPWR T T c.3137A>T p.Asp1046Val p.D1046V ENST00000388718 3/3 71 58 8 32 31 0 FLG2,missense_variant,p.Asp1046Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 3210/9124 3137/7176 1046/2391 D/V gAt/gTt COSM6232685 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.16) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS ATC . . 152354649 JAGN1 . GRCh38 chr3 9890814 9890814 + Splice_Region SNP A A C novel 7316-321 BS_1EWXJPWR A A c.89+3A>C ENST00000307768 60 48 7 25 24 0 JAGN1,splice_region_variant,,ENST00000307768,NM_032492.3;JAGN1,splice_region_variant,,ENST00000489724,;,regulatory_region_variant,,ENSR00000148327,; C ENSG00000171135 ENST00000307768 Transcript splice_region_variant,intron_variant 1 1 JAGN1 HGNC HGNC:26926 protein_coding YES CCDS2588.1 ENSP00000306106 Q8N5M9 UPI0000072A5A NM_032492.3 1/1 LOW 1 SNV 1 1 PASS TAT . . 9890814 AC078785.2 . GRCh38 chr3 113051707 113051708 + Splice_Region INS - - A novel 7316-321 BS_1EWXJPWR - - n.460-3dup ENST00000462010 49 36 9 43 37 0 AC078785.2,splice_region_variant,,ENST00000462010,;AC078785.1,intron_variant,,ENST00000460707,;AC078785.1,intron_variant,,ENST00000467342,;AC078785.1,intron_variant,,ENST00000470313,;AC078785.1,intron_variant,,ENST00000496389,;,regulatory_region_variant,,ENSR00000156653,; A ENSG00000241219 ENST00000462010 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AC078785.2 Clone_based_ensembl_gene lincRNA YES 2/2 LOW 1 insertion 3 PASS CTA . . 113051707 ZNF595 . GRCh38 chr4 86694 86694 + Missense_Mutation SNP C C A novel 7316-321 BS_1EWXJPWR C C c.1190C>A p.Thr397Lys p.T397K ENST00000610261 4/4 57 48 8 30 30 0 ZNF595,missense_variant,p.Thr397Lys,ENST00000610261,NM_182524.3;ZNF595,missense_variant,p.Thr365Lys,ENST00000609518,NM_001286052.1;ZNF595,missense_variant,p.Thr214Lys,ENST00000608255,NM_001286054.1,NM_001286053.1; A ENSG00000272602 ENST00000610261 Transcript missense_variant 1394/2911 1190/1947 397/648 T/K aCa/aAa 1 1 ZNF595 HGNC HGNC:27196 protein_coding YES CCDS75075.1 ENSP00000477392 Q8IYB9 UPI00001A9D0D NM_182524.3 tolerated(1) probably_damaging(0.974) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF129,hmmpanther:PTHR24384:SF129,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ACA . . 86694 GPR6 . GRCh38 chr6 109979209 109979209 + Missense_Mutation SNP A A C novel 7316-321 BS_1EWXJPWR A A c.142A>C p.Thr48Pro p.T48P ENST00000414000 3/3 74 56 14 32 28 1 GPR6,missense_variant,p.Thr48Pro,ENST00000414000,NM_001286099.1;GPR6,missense_variant,p.Thr33Pro,ENST00000275169,NM_005284.4;,regulatory_region_variant,,ENSR00000322481,; C ENSG00000146360 ENST00000414000 Transcript missense_variant 436/1945 142/1134 48/377 T/P Acg/Ccg 1 1 GPR6 HGNC HGNC:4515 protein_coding YES CCDS69172.1 ENSP00000406986 P46095 UPI0001AE72E0 NM_001286099.1 tolerated_low_confidence(0.21) benign(0) 3/3 hmmpanther:PTHR22750:SF19,hmmpanther:PTHR22750,Prints_domain:PR00649 MODERATE 1 SNV 2 PASS CAC . . 109979209 FAM120B . GRCh38 chr6 170318489 170318489 + Missense_Mutation SNP G G T rs748384723 7316-321 BS_1EWXJPWR G G c.1168G>T p.Val390Leu p.V390L ENST00000537664 2/11 56 39 5 38 35 1 FAM120B,missense_variant,p.Val367Leu,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Val379Leu,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Val390Leu,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; T ENSG00000112584 ENST00000537664 Transcript missense_variant 1253/3212 1168/2802 390/933 V/L Gtg/Ttg rs748384723 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(0.8) benign(0.001) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 MODERATE 1 SNV 2 PASS CGT . . 170318489 MUC17 . GRCh38 chr7 101039533 101039533 + Missense_Mutation SNP A A T 7316-321 BS_1EWXJPWR A A c.8117A>T p.Asn2706Ile p.N2706I ENST00000306151 3/13 67 51 6 39 35 0 MUC17,missense_variant,p.Asn2706Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn2706Ile,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 8181/14247 8117/13482 2706/4493 N/I aAt/aTt COSM1673398 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0) benign(0.262) 3/13 hmmpanther:PTHR37999 1 MODERATE 1 SNV 1 1 PASS AAT . . 101039533 AHNAK . GRCh38 chr11 62525515 62525515 + Missense_Mutation SNP A A T rs1173188763 7316-321 BS_1EWXJPWR A A c.8902T>A p.Phe2968Ile p.F2968I ENST00000378024 5/5 64 57 6 27 26 0 AHNAK,missense_variant,p.Phe2968Ile,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 9177/18787 8902/17673 2968/5890 F/I Ttt/Att rs1173188763 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.34) benign(0.003) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 MODERATE 1 SNV 2 PASS AAG . . 62525515 PRB3 . GRCh38 chr12 11267329 11267329 + Missense_Mutation SNP C C A novel 7316-321 BS_1EWXJPWR C C c.920G>T p.Arg307Met p.R307M ENST00000538488 3/4 55 39 5 41 36 1 PRB3,missense_variant,p.Arg307Met,ENST00000538488,NM_006249.5;PRB3,missense_variant,p.Arg265Met,ENST00000381842,;PRB3,downstream_gene_variant,,ENST00000539835,; A ENSG00000197870 ENST00000538488 Transcript missense_variant 1056/1283 920/1056 307/351 R/M aGg/aTg 1 -1 PRB3 HGNC HGNC:9339 protein_coding YES ENSP00000442626 F5H7C1 UPI00002371BA NM_006249.5 deleterious_low_confidence(0.02) unknown(0) 3/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412 MODERATE 1 SNV 5 PASS CCT . . 11267329 KRAS . GRCh38 chr12 25245350 25245350 + Missense_Mutation SNP C C T rs121913529 7316-321 BS_1EWXJPWR C C c.35G>A p.Gly12Asp p.G12D ENST00000256078 2/6 69 54 15 23 23 0 KRAS,missense_variant,p.Gly12Asp,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,; T ENSG00000133703 ENST00000256078 Transcript missense_variant 99/1119 35/570 12/189 G/D gGt/gAt rs121913529,COSM522,COSM521,COSM520,COSM49168,COSM12657,COSM1140134,COSM1140133,COSM1135366 1 -1 KRAS HGNC HGNC:6407 protein_coding YES CCDS8703.1 ENSP00000256078 P01116 L7RSL8 UPI0000133132 NM_033360.3 deleterious(0) benign(0.303) 2/6 Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,cd04138,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.30.70.1390,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449 not_provided,likely_pathogenic,pathogenic 1,1,1,1,1,1,1,1,1 22499344,15696205,22683711,17704260,17332249,21079152,19047918,7773929,8439212,15842656,17910045,19358724,20805368,20949522,21169357,27872090 MODERATE 1 SNV 1 1,1,1,1,1,1,1,1,1 1 PASS ACC . . 25245350 CRY1 . GRCh38 chr12 106997536 106997536 + Missense_Mutation SNP C C T rs1255748354 7316-321 BS_1EWXJPWR C C c.1444G>A p.Glu482Lys p.E482K ENST00000008527 9/13 69 60 7 29 29 0 CRY1,missense_variant,p.Glu482Lys,ENST00000008527,NM_004075.4;CRY1,missense_variant,p.Glu2Lys,ENST00000549356,;CRY1,non_coding_transcript_exon_variant,,ENST00000552790,;CRY1,downstream_gene_variant,,ENST00000546722,; T ENSG00000008405 ENST00000008527 Transcript missense_variant 2312/3267 1444/1761 482/586 E/K Gaa/Aaa rs1255748354,COSM6635798 1 -1 CRY1 HGNC HGNC:2384 protein_coding YES CCDS9112.1 ENSP00000008527 Q16526 A2I2P0 UPI0000073E80 NM_004075.4 tolerated(0.14) benign(0.061) 9/13 Gene3D:1.10.579.10,Pfam_domain:PF03441,hmmpanther:PTHR11455,hmmpanther:PTHR11455:SF16,Superfamily_domains:SSF48173 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCG . . 4.065e-06 5.798e-05 106997536 PABPC3 . GRCh38 chr13 25097469 25097469 + Missense_Mutation SNP G G A rs117378456 7316-321 BS_1EWXJPWR G G c.1271G>A p.Arg424Gln p.R424Q ENST00000281589 1/1 57 44 13 48 46 2 PABPC3,missense_variant,p.Arg424Gln,ENST00000281589,NM_030979.2;,regulatory_region_variant,,ENSR00000271233,; A ENSG00000151846 ENST00000281589 Transcript missense_variant 1602/3387 1271/1896 424/631 R/Q cGa/cAa rs117378456,COSM4213859 1 1 PABPC3 HGNC HGNC:8556 protein_coding YES CCDS9311.1 ENSP00000281589 Q9H361 Q5VX58 UPI00001311AB NM_030979.2 tolerated(1) benign(0) 1/1 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,TIGRFAM_domain:TIGR01628 0.0851 0.1399 0.0562 0.0496 0.0348 0.1196 0,1 MODERATE 1 SNV 0,1 PASS CGA . . 4.072e-06 8.973e-06 25097469 AP1G1 . GRCh38 chr16 71771256 71771257 + Splice_Region INS - - A rs546053980 7316-321 BS_1EWXJPWR - - c.469-5_469-4insT ENST00000393512 67 53 6 38 34 0 AP1G1,splice_region_variant,,ENST00000299980,NM_001128.5;AP1G1,splice_region_variant,,ENST00000393512,NM_001030007.1;AP1G1,splice_region_variant,,ENST00000563259,;AP1G1,splice_region_variant,,ENST00000569748,;AP1G1,downstream_gene_variant,,ENST00000563104,;AP1G1,downstream_gene_variant,,ENST00000565412,;AP1G1,downstream_gene_variant,,ENST00000567583,;AP1G1,downstream_gene_variant,,ENST00000569185,;AP1G1,splice_region_variant,,ENST00000450149,;AP1G1,splice_region_variant,,ENST00000565009,;AP1G1,splice_region_variant,,ENST00000568327,;AP1G1,upstream_gene_variant,,ENST00000565642,;AP1G1,downstream_gene_variant,,ENST00000566161,; A ENSG00000166747 ENST00000393512 Transcript splice_region_variant,intron_variant rs546053980 1 -1 AP1G1 HGNC HGNC:555 protein_coding YES CCDS45522.1 ENSP00000377148 O43747 A0A140VJE7 UPI000016A4AD NM_001030007.1 4/23 0.0045 0.003 0.0031 LOW 1 insertion 5 PASS ATG . . 0.06013 0.04266 0.08006 0.09345 0.1197 0.04614 0.04319 0.06741 0.1154 71771256 ZNF208 . GRCh38 chr19 21971395 21971395 + Missense_Mutation SNP T T A rs560585093 7316-321 BS_1EWXJPWR T T c.3639A>T p.Arg1213Ser p.R1213S ENST00000397126 4/4 38 26 9 37 29 0 ZNF208,missense_variant,p.Arg1213Ser,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Arg1085Ser,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; A ENSG00000160321 ENST00000397126 Transcript missense_variant 3788/3992 3639/3843 1213/1280 R/S agA/agT rs560585093,COSM1611940,COSM1611939,COSM1611938 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(0.52) benign(0.054) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0002 0.001 0,1,1,1 MODERATE 1 SNV 3 0,1,1,1 PASS ATC . . 1.67e-05 3.017e-05 0.0001756 21971395 ZNF850 . GRCh38 chr19 36749440 36749440 + Missense_Mutation SNP G G C rs878963201 7316-321 BS_1EWXJPWR G G c.1600C>G p.His534Asp p.H534D ENST00000591344 5/5 59 49 8 40 37 0 ZNF850,missense_variant,p.His534Asp,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.His502Asp,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; C ENSG00000267041 ENST00000591344 Transcript missense_variant 1759/7714 1600/3273 534/1090 H/D Cat/Gat rs878963201 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 tolerated(0.19) benign(0.034) 5/5 Gene3D:2.40.155.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TGA . . 36749440 KIR3DL3 . GRCh38 chr19 54735274 54735274 + Missense_Mutation SNP T T C rs662386 7316-321 BS_1EWXJPWR T T c.971T>C p.Val324Ala p.V324A ENST00000291860 6/8 41 31 8 18 18 0 KIR3DL3,missense_variant,p.Val324Ala,ENST00000291860,NM_153443.4;KIR2DL3,upstream_gene_variant,,ENST00000342376,NM_015868.2;AC245128.1,intron_variant,,ENST00000400864,; C ENSG00000242019 ENST00000291860 Transcript missense_variant 989/1691 971/1233 324/410 V/A gTt/gCt rs662386,COSM321264 1 1 KIR3DL3 HGNC HGNC:16312 protein_coding YES CCDS12903.1 ENSP00000291860 A0A0B4J1R5 UPI00005056C3 NM_153443.4 deleterious(0.05) benign(0.114) 6/8 hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF127,SMART_domains:SM00409,Transmembrane_helices:TMhelix 0,1 MODERATE 1 SNV 1 0,1 PASS GTT . . 54735274 CST3 . GRCh38 chr20 23637861 23637861 + Translation_Start_Site SNP A A C novel 7316-321 BS_1EWXJPWR A A c.2T>G p.Met1? p.M1? ENST00000398411 1/4 61 51 8 31 29 0 CST3,start_lost,p.Met1?,ENST00000398411,NM_001288614.1;CST3,start_lost,p.Met1?,ENST00000376925,NM_000099.3;CST3,start_lost,p.Met1?,ENST00000398409,;,regulatory_region_variant,,ENSR00000135699,; C ENSG00000101439 ENST00000398411 Transcript start_lost 85/3286 2/441 1/146 M/R aTg/aGg 1 -1 CST3 HGNC HGNC:2475 protein_coding YES CCDS13158.1 ENSP00000381448 P01034 A0A0K0K1J1 UPI000002B9AD NM_001288614.1 deleterious(0) probably_damaging(0.915) 1/4 hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF42,Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 1 PASS CAT . . 23637861 AXDND1 . GRCh38 chr1 179534900 179534905 + In_Frame_Del DEL AAGAAC AAGAAC - rs200097954 7316-91 BS_J7WQHJDQ AAGAAC AAGAAC c.2971_2976del p.Glu991_Gln992del p.E991_Q992del ENST00000367618 25/26 83 77 6 40 40 0 AXDND1,inframe_deletion,p.Glu991_Gln992del,ENST00000367618,NM_144696.5;AXDND1,inframe_deletion,p.Glu851_Gln852del,ENST00000434088,;AXDND1,3_prime_UTR_variant,,ENST00000617277,;AXDND1,non_coding_transcript_exon_variant,,ENST00000484883,;AXDND1,non_coding_transcript_exon_variant,,ENST00000484455,;AXDND1,3_prime_UTR_variant,,ENST00000511157,; - ENSG00000162779 ENST00000367618 Transcript inframe_deletion 3356-3361/3642 2969-2974/3039 990-992/1012 EEQ/E gAAGAACaa/gaa rs200097954,COSM146262 1 1 AXDND1 HGNC HGNC:26564 protein_coding YES CCDS30948.1 ENSP00000356590 Q5T1B0 UPI000022AC91 NM_144696.5 25/26 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23052 0.1813 0.333 0,1 MODERATE 1 deletion 1 2 0,1 PASS AGAAGAACA . . 0.0006727 0.0001414 0.001369 0.0006879 0.0005087 0.0001986 0.00037 0.0008696 0.001781 179534899 ARAP1 . GRCh38 chr11 72726897 72726897 + Missense_Mutation SNP T T G rs1375770101 7316-91 BS_J7WQHJDQ T T c.232A>C p.Thr78Pro p.T78P ENST00000393609 3/35 89 66 15 37 36 1 ARAP1,missense_variant,p.Thr78Pro,ENST00000359373,;ARAP1,missense_variant,p.Thr78Pro,ENST00000393609,NM_001040118.2;ARAP1,upstream_gene_variant,,ENST00000334211,NM_015242.4;ARAP1,upstream_gene_variant,,ENST00000426523,;ARAP1,upstream_gene_variant,,ENST00000429686,NM_001135190.1;ARAP1,upstream_gene_variant,,ENST00000465814,; G ENSG00000186635 ENST00000393609 Transcript missense_variant 435/5145 232/4353 78/1450 T/P Acc/Ccc rs1375770101 1 -1 ARAP1 HGNC HGNC:16925 protein_coding YES CCDS41687.1 ENSP00000377233 Q96P48 UPI000053F81B NM_001040118.2 tolerated(0.27) benign(0) 3/35 hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF195,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GTG . . 1.064e-05 1.238e-05 3.89e-05 72726897 SLC10A2 . GRCh38 chr13 103051435 103051436 + Splice_Region INS - - A rs199940758 7316-91 BS_J7WQHJDQ - - c.586-4dup ENST00000245312 74 67 5 55 50 0 SLC10A2,splice_region_variant,,ENST00000245312,NM_000452.2; A ENSG00000125255 ENST00000245312 Transcript splice_region_variant,intron_variant rs199940758,TMP_ESP_13_103703786_103703786 1 -1 SLC10A2 HGNC HGNC:10906 protein_coding YES CCDS9506.1 ENSP00000245312 Q12908 UPI000013CB9B NM_000452.2 3/5 0.0026 0.0091 0.001 0.01173 0.003513 LOW 1 insertion 1 1 PASS TGA . . 0.0007534 0.00688 0.0006613 0.0003317 9.865e-05 0.0001981 0.001829 0.0005962 103051435 GOLGA6L2 . GRCh38 chr15 23440966 23440967 + In_Frame_Ins INS - - TGCTCTTGCATCTTCTCG rs746004439 7316-91 BS_J7WQHJDQ - - c.1508_1509insCGAGAAGATGCAAGAGCA p.Glu502_Gln503insHisGluLysMetGlnGlu p.E502_Q503insHEKMQE ENST00000567107 8/8 83 70 6 36 32 0 GOLGA6L2,inframe_insertion,p.Glu502_Gln503insHisGluLysMetGlnGlu,ENST00000567107,NM_001304388.1;GOLGA6L2,inframe_insertion,p.Glu229_Gln230insHisGluLysMetGlnGlu,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; TGCTCTTGCATCTTCTCG ENSG00000174450 ENST00000567107 Transcript inframe_insertion 1561-1562/3030 1508-1509/2730 503/909 Q/HEKMQEQ cag/caCGAGAAGATGCAAGAGCAg rs746004439 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 8/8 Low_complexity_(Seg):seg,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21 MODERATE 1 insertion 5 PASS CCT . . 1.447e-05 3.837e-05 23440966 MAP2K1 . GRCh38 chr15 66435118 66435132 + In_Frame_Del DEL CAGAAGGTGGGAGAA CAGAAGGTGGGAGAA - 7316-91 BS_J7WQHJDQ CAGAAGGTGGGAGAA CAGAAGGTGGGAGAA c.173_187del p.Gln58_Glu62del p.Q58_E62del ENST00000307102 2/11 71 66 5 45 45 0 MAP2K1,inframe_deletion,p.Gln58_Glu62del,ENST00000307102,NM_002755.3;MAP2K1,non_coding_transcript_exon_variant,,ENST00000425818,; - ENSG00000169032 ENST00000307102 Transcript inframe_deletion 703-717/3410 172-186/1182 58-62/393 QKVGE/- CAGAAGGTGGGAGAA/- COSM5031100 1 1 MAP2K1 HGNC HGNC:6840 protein_coding YES CCDS10216.1 ENSP00000302486 Q02750 A4QPA9 UPI000013EBC9 NM_002755.3 2/11 cd06650,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF370,PIRSF_domain:PIRSF000654,Gene3D:3.30.200.20 1 MODERATE 1 deletion 1 1 1 1 PASS AGCAGAAGGTGGGAGAAC . . 66435117 ESF1 . GRCh38 chr20 13784815 13784816 + Splice_Region DEL CA CA - rs143773796 7316-91 BS_J7WQHJDQ CA CA c.-44+6_-44+7del ENST00000202816 78 66 5 36 34 0 ESF1,splice_region_variant,,ENST00000202816,NM_016649.3,NM_001276380.1;NDUFAF5,upstream_gene_variant,,ENST00000378106,NM_024120.4;NDUFAF5,upstream_gene_variant,,ENST00000463598,NM_001039375.2;ESF1,upstream_gene_variant,,ENST00000617257,;NDUFAF5,upstream_gene_variant,,ENST00000469177,;NDUFAF5,upstream_gene_variant,,ENST00000475968,;NDUFAF5,upstream_gene_variant,,ENST00000476536,;NDUFAF5,upstream_gene_variant,,ENST00000477732,;NDUFAF5,upstream_gene_variant,,ENST00000481249,;NDUFAF5,upstream_gene_variant,,ENST00000485738,;NDUFAF5,upstream_gene_variant,,ENST00000378081,;,regulatory_region_variant,,ENSR00000134894,; - ENSG00000089048 ENST00000202816 Transcript splice_region_variant,intron_variant rs143773796 1 -1 ESF1 HGNC HGNC:15898 protein_coding YES CCDS13117.1 ENSP00000202816 Q9H501 UPI00001285C8 NM_016649.3,NM_001276380.1 1/13 LOW deletion 5 PASS GCCAC . . 13784814 PER3 . GRCh38 chr1 7829966 7829966 + Missense_Mutation SNP A A G rs199947375 7316-1854 BS_DF6YZT8Y A A c.3019A>G p.Lys1007Glu p.K1007E ENST00000613533 19/22 58 49 5 26 26 0 PER3,missense_variant,p.Lys1007Glu,ENST00000613533,NM_001289862.1;PER3,missense_variant,p.Lys1007Glu,ENST00000377532,;PER3,missense_variant,p.Lys998Glu,ENST00000361923,NM_016831.2;PER3,intron_variant,,ENST00000614998,NM_001289864.1,NM_001289863.1,NM_001289861.1;Z98884.1,upstream_gene_variant,,ENST00000451646,; G ENSG00000049246 ENST00000613533 Transcript missense_variant 3283/6318 3019/3633 1007/1210 K/E Aag/Gag rs199947375,COSM215737 1 1 PER3 HGNC HGNC:8847 protein_coding YES CCDS72695.1 ENSP00000482093 P56645 UPI00003664CA NM_001289862.1 tolerated_low_confidence(0.78) benign(0) 19/22 hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13,mobidb-lite 0,1 MODERATE SNV 5 0,1 1 PASS GAA . . 7829966 FLG2 . GRCh38 chr1 152351463 152351463 + Missense_Mutation SNP G G T rs756165212 7316-1854 BS_DF6YZT8Y G G c.6323C>A p.Ser2108Tyr p.S2108Y ENST00000388718 3/3 40 32 8 43 39 1 FLG2,missense_variant,p.Ser2108Tyr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 6396/9124 6323/7176 2108/2391 S/Y tCc/tAc rs756165212,COSM6233728 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.09) benign(0.041) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GGA . . 1.321e-05 3.59e-05 1.872e-05 152351463 FLG2 . GRCh38 chr1 152353310 152353310 + Missense_Mutation SNP A A C rs749699546 7316-1854 BS_DF6YZT8Y A A c.4476T>G p.Ser1492Arg p.S1492R ENST00000388718 3/3 63 50 9 51 47 1 FLG2,missense_variant,p.Ser1492Arg,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 4549/9124 4476/7176 1492/2391 S/R agT/agG rs749699546,COSM5956621 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.48) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS TAC . . 4.111e-06 9.003e-06 152353310 ACBD3 . GRCh38 chr1 226159258 226159258 + Missense_Mutation SNP T T G rs762875502 7316-1854 BS_DF6YZT8Y T T c.829A>C p.Ile277Leu p.I277L ENST00000366812 5/8 67 57 9 32 31 0 ACBD3,missense_variant,p.Ile277Leu,ENST00000366812,NM_022735.3;ACBD3-AS1,downstream_gene_variant,,ENST00000440540,;ACBD3,intron_variant,,ENST00000464927,; G ENSG00000182827 ENST00000366812 Transcript missense_variant 884/3573 829/1587 277/528 I/L Atc/Ctc rs762875502 1 -1 ACBD3 HGNC HGNC:15453 protein_coding YES CCDS1551.1 ENSP00000355777 Q9H3P7 A0A024R3P9 UPI000006F1E1 NM_022735.3 deleterious(0.01) benign(0.037) 5/8 PDB-ENSP_mappings:2n72.A,PDB-ENSP_mappings:2n73.A,hmmpanther:PTHR22973,hmmpanther:PTHR22973:SF11,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATG . . 226159258 H1FX . GRCh38 chr3 129315854 129315854 + Missense_Mutation SNP T T G novel 7316-1854 BS_DF6YZT8Y T T c.49A>C p.Met17Leu p.M17L ENST00000333762 1/1 66 51 14 17 14 0 H1FX,missense_variant,p.Met17Leu,ENST00000333762,NM_006026.3;H1FX-AS1,non_coding_transcript_exon_variant,,ENST00000511998,;H1FX-AS1,intron_variant,,ENST00000433902,;H1FX-AS1,upstream_gene_variant,,ENST00000383461,;H1FX-AS1,upstream_gene_variant,,ENST00000502789,;,regulatory_region_variant,,ENSR00000158211,; G ENSG00000184897 ENST00000333762 Transcript missense_variant 424/1507 49/642 17/213 M/L Atg/Ctg 1 -1 H1FX HGNC HGNC:4722 protein_coding YES CCDS3057.1 ENSP00000329662 Q92522 UPI000012BF2F NM_006026.3 tolerated(0.14) benign(0) 1/1 hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF21 MODERATE SNV PASS ATT . . 129315854 SH3RF1 . GRCh38 chr4 169106897 169106897 + Missense_Mutation SNP A A C novel 7316-1854 BS_DF6YZT8Y A A c.2448T>G p.Cys816Trp p.C816W ENST00000284637 11/12 61 49 12 29 29 0 SH3RF1,missense_variant,p.Cys816Trp,ENST00000284637,NM_020870.3; C ENSG00000154447 ENST00000284637 Transcript missense_variant 2790/5272 2448/2667 816/888 C/W tgT/tgG 1 -1 SH3RF1 HGNC HGNC:17650 protein_coding YES CCDS34099.1 ENSP00000284637 Q7Z6J0 UPI0000160033 NM_020870.3 tolerated(0.08) possibly_damaging(0.908) 11/12 Gene3D:2.30.30.40,Superfamily_domains:SSF50044,hmmpanther:PTHR44208,hmmpanther:PTHR44208:SF2 MODERATE 1 SNV 1 PASS AAC . . 169106897 VEGFC . GRCh38 chr4 176711632 176711632 + Missense_Mutation SNP G G C rs774139549 7316-1854 BS_DF6YZT8Y G G c.571C>G p.Pro191Ala p.P191A ENST00000618562 4/7 68 59 9 35 33 0 VEGFC,missense_variant,p.Pro191Ala,ENST00000618562,NM_005429.4;VEGFC,non_coding_transcript_exon_variant,,ENST00000507638,; C ENSG00000150630 ENST00000618562 Transcript missense_variant 987/2064 571/1260 191/419 P/A Cct/Gct rs774139549 1 -1 VEGFC HGNC HGNC:12682 protein_coding YES CCDS43285.1 ENSP00000480043 P49767 UPI0000001C2A NM_005429.4 deleterious(0.01) possibly_damaging(0.603) 4/7 Gene3D:2.10.90.10,PDB-ENSP_mappings:2x1w.A,PDB-ENSP_mappings:2x1w.B,PDB-ENSP_mappings:2x1w.C,PDB-ENSP_mappings:2x1w.D,PDB-ENSP_mappings:2x1x.E,PDB-ENSP_mappings:4bsk.C,Pfam_domain:PF00341,PROSITE_profiles:PS50278,hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF3,SMART_domains:SM00141,Superfamily_domains:SSF57501,cd00135 MODERATE 1 SNV 1 1 PASS GGC . . 1.249e-05 2.738e-05 176711632 CLPTM1L . GRCh38 chr5 1344840 1344840 + Translation_Start_Site SNP A A C novel 7316-1854 BS_DF6YZT8Y A A c.2T>G p.Met1? p.M1? ENST00000320895 1/17 30 24 6 14 13 0 CLPTM1L,start_lost,p.Met1?,ENST00000320895,NM_030782.4;CLPTM1L,5_prime_UTR_variant,,ENST00000630539,;CLPTM1L,upstream_gene_variant,,ENST00000507807,;,regulatory_region_variant,,ENSR00000177543,; C ENSG00000049656 ENST00000320895 Transcript start_lost 260/2500 2/1617 1/538 M/R aTg/aGg 1 -1 CLPTM1L HGNC HGNC:24308 protein_coding YES CCDS3862.1 ENSP00000313854 Q96KA5 UPI00000707DF NM_030782.4 deleterious_low_confidence(0) benign(0.158) 1/17 hmmpanther:PTHR21347,hmmpanther:PTHR21347:SF0 HIGH 1 SNV 1 PASS CAT . . 1344840 MUC17 . GRCh38 chr7 101033137 101033137 + Missense_Mutation SNP A A G rs1192457625 7316-1854 BS_DF6YZT8Y A A c.1721A>G p.Asn574Ser p.N574S ENST00000306151 3/13 77 64 6 41 39 1 MUC17,missense_variant,p.Asn574Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn574Ser,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 1785/14247 1721/13482 574/4493 N/S aAc/aGc rs1192457625,COSM4166561 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 101033137 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-1854 BS_DF6YZT8Y T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 76 64 9 21 19 0 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 EPPK1 . GRCh38 chr8 143859146 143859146 + Missense_Mutation SNP G G A rs1439190657 7316-1854 BS_DF6YZT8Y G G c.14108C>T p.Ala4703Val p.A4703V ENST00000615648 2/2 56 40 15 29 29 0 EPPK1,missense_variant,p.Ala4703Val,ENST00000615648,NM_031308.3;EPPK1,missense_variant,p.Ala4678Val,ENST00000568225,;,regulatory_region_variant,,ENSR00000333972,; A ENSG00000261150 ENST00000615648 Transcript missense_variant 14180/16002 14108/15267 4703/5088 A/V gCg/gTg rs1439190657 1 -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107 UPI0002065B93 NM_031308.3 tolerated(0.22) possibly_damaging(0.691) 2/2 Gene3D:3.90.1290.10,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2 MODERATE 1 SNV 5 PASS CGC . . 143859146 FOXE1 . GRCh38 chr9 97854489 97854489 + Missense_Mutation SNP A A C novel 7316-1854 BS_DF6YZT8Y A A c.575A>C p.Tyr192Ser p.Y192S ENST00000375123 1/1 62 49 9 29 29 0 FOXE1,missense_variant,p.Tyr192Ser,ENST00000375123,NM_004473.3;,regulatory_region_variant,,ENSR00000238557,; C ENSG00000178919 ENST00000375123 Transcript missense_variant 1236/3462 575/1122 192/373 Y/S tAc/tCc 1 1 FOXE1 HGNC HGNC:3806 protein_coding YES CCDS35078.1 ENSP00000364265 O00358 UPI0000167B2F NM_004473.3 deleterious(0.01) benign(0.021) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF156 MODERATE 1 SNV 1 PASS TAC . . 97854489 ACSS3 . GRCh38 chr12 81139245 81139245 + Missense_Mutation SNP A A C novel 7316-1854 BS_DF6YZT8Y A A c.760A>C p.Ile254Leu p.I254L ENST00000548058 4/16 66 58 8 37 37 0 ACSS3,missense_variant,p.Ile254Leu,ENST00000548058,NM_024560.2;ACSS3,missense_variant,p.Ile253Leu,ENST00000261206,;ACSS3,downstream_gene_variant,,ENST00000549175,;ACSS3,non_coding_transcript_exon_variant,,ENST00000548387,; C ENSG00000111058 ENST00000548058 Transcript missense_variant 1670/9254 760/2061 254/686 I/L Att/Ctt 1 1 ACSS3 HGNC HGNC:24723 protein_coding YES CCDS9022.1 ENSP00000449535 Q9H6R3 UPI000007060A NM_024560.2 deleterious(0.05) benign(0.228) 4/16 Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR43347,hmmpanther:PTHR43347:SF3,Superfamily_domains:SSF56801,cd05967 MODERATE 1 SNV 1 PASS CAT . . 81139245 PARPBP . GRCh38 chr12 102148292 102148292 + Missense_Mutation SNP T T G novel 7316-1854 BS_DF6YZT8Y T T c.216T>G p.His72Gln p.H72Q ENST00000541394 3/12 51 41 9 37 36 0 PARPBP,missense_variant,p.His72Gln,ENST00000327680,NM_017915.4;PARPBP,missense_variant,p.His72Gln,ENST00000541394,NM_001319988.1;PARPBP,missense_variant,p.His39Gln,ENST00000417507,;PARPBP,missense_variant,p.His39Gln,ENST00000412715,;PARPBP,missense_variant,p.His72Gln,ENST00000537257,NM_001319996.1;PARPBP,5_prime_UTR_variant,,ENST00000392911,NM_001319993.1,NM_001319994.1;PARPBP,intron_variant,,ENST00000543784,;PARPBP,non_coding_transcript_exon_variant,,ENST00000541668,;PARPBP,intron_variant,,ENST00000535811,;PARPBP,missense_variant,p.His72Gln,ENST00000392909,;PARPBP,non_coding_transcript_exon_variant,,ENST00000392914,;PARPBP,intron_variant,,ENST00000457614,; G ENSG00000185480 ENST00000541394 Transcript missense_variant 321/2452 216/1971 72/656 H/Q caT/caG 1 1 PARPBP HGNC HGNC:26074 protein_coding YES CCDS81728.1 ENSP00000440850 B4DZ31 UPI00017A8405 NM_001319988.1 tolerated(0.21) possibly_damaging(0.519) 3/12 hmmpanther:PTHR32121 MODERATE 1 SNV 2 PASS ATG . . 102148292 UBC . GRCh38 chr12 124913400 124913400 + Missense_Mutation SNP C C A 7316-1854 BS_DF6YZT8Y C C c.372G>T p.Lys124Asn p.K124N ENST00000536769 1/1 56 42 9 26 24 0 UBC,missense_variant,p.Lys124Asn,ENST00000536769,;UBC,missense_variant,p.Lys124Asn,ENST00000339647,NM_021009.6;UBC,missense_variant,p.Lys124Asn,ENST00000538617,;UBC,missense_variant,p.Lys124Asn,ENST00000540700,;UBC,missense_variant,p.Lys124Asn,ENST00000540351,;UBC,missense_variant,p.Lys124Asn,ENST00000535131,;UBC,missense_variant,p.Lys124Asn,ENST00000546271,;UBC,missense_variant,p.Lys124Asn,ENST00000541645,;UBC,intron_variant,,ENST00000541272,;UBC,intron_variant,,ENST00000546120,;UBC,downstream_gene_variant,,ENST00000535859,;UBC,downstream_gene_variant,,ENST00000542416,;MIR5188,upstream_gene_variant,,ENST00000583467,;UBC,non_coding_transcript_exon_variant,,ENST00000544481,;UBC,downstream_gene_variant,,ENST00000536661,; A ENSG00000150991 ENST00000536769 Transcript missense_variant 1949/3745 372/2058 124/685 K/N aaG/aaT COSM936786 1 -1 UBC HGNC HGNC:12468 protein_coding YES CCDS9260.1 ENSP00000441543 P0CG48 UPI000000D74D tolerated(0.05) probably_damaging(0.925) 1/1 Gene3D:3.10.20.90,Pfam_domain:PF00240,PROSITE_patterns:PS00299,PROSITE_profiles:PS50053,hmmpanther:PTHR45095,hmmpanther:PTHR45095,hmmpanther:PTHR45095:SF2,hmmpanther:PTHR45095:SF2,SMART_domains:SM00213,Superfamily_domains:SSF54236,cd01803 1 MODERATE 1 SNV 1 PASS GCT . . 124913400 PHF2P2 . GRCh38 chr13 18952708 18952708 + Splice_Region SNP A A C novel 7316-1854 BS_DF6YZT8Y A A n.2394+7T>G ENST00000444553 66 57 7 35 34 0 PHF2P2,upstream_gene_variant,,ENST00000416576,;PHF2P2,splice_region_variant,,ENST00000444553,; C ENSG00000226057 ENST00000444553 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 PHF2P2 HGNC HGNC:38808 transcribed_unprocessed_pseudogene YES 17/19 LOW 1 SNV PASS CAA . . 18952708 ADPRHL1 . GRCh38 chr13 113404259 113404259 + Missense_Mutation SNP G G A rs918866457 7316-1854 BS_DF6YZT8Y G G c.5023C>T p.Arg1675Trp p.R1675W ENST00000612156 8/8 64 45 6 40 35 0 ADPRHL1,missense_variant,p.Arg1675Trp,ENST00000612156,; A ENSG00000153531 ENST00000612156 Transcript missense_variant 5110/9759 5023/5904 1675/1967 R/W Cgg/Tgg rs918866457 1 -1 ADPRHL1 HGNC HGNC:21303 protein_coding ENSP00000489048 A0A0U1RQK4 UPI000719A14C deleterious_low_confidence(0) unknown(0) 8/8 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS CGT . . 113404259 CCDC198 . GRCh38 chr14 57475708 57475708 + Splice_Region DEL A A - rs766707381 7316-1854 BS_DF6YZT8Y A A c.653-4del ENST00000422976 54 32 10 22 17 0 CCDC198,splice_region_variant,,ENST00000422976,NM_001283056.1;CCDC198,splice_region_variant,,ENST00000524996,;CCDC198,intron_variant,,ENST00000216445,NM_018168.3;CCDC198,intron_variant,,ENST00000534126,NM_001283060.1,NM_001283059.1,NM_001283058.1,NM_001283057.1;CCDC198,intron_variant,,ENST00000530417,;CCDC198,intron_variant,,ENST00000534528,;CCDC198,downstream_gene_variant,,ENST00000526745,;CCDC198,downstream_gene_variant,,ENST00000527032,;CCDC198,downstream_gene_variant,,ENST00000529860,; - ENSG00000100557 ENST00000422976 Transcript splice_region_variant,intron_variant rs766707381 1 -1 CCDC198 HGNC HGNC:20189 protein_coding YES CCDS61459.1 ENSP00000392368 F5GWJ3 UPI000204A979 NM_001283056.1 5/6 LOW 1 deletion 1 PASS TTAA . . 0.329 0.3254 0.3364 0.3105 0.3808 0.34 0.3053 0.2969 0.3514 57475707 ACAN . GRCh38 chr15 88855538 88855538 + Missense_Mutation SNP A A G rs200194458 7316-1854 BS_DF6YZT8Y A A c.2953A>G p.Thr985Ala p.T985A ENST00000439576 12/18 54 45 6 24 23 0 ACAN,missense_variant,p.Thr985Ala,ENST00000560601,;ACAN,missense_variant,p.Thr985Ala,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Thr985Ala,ENST00000559004,;ACAN,missense_variant,p.Thr985Ala,ENST00000561243,;ACAN,missense_variant,p.Thr985Ala,ENST00000352105,NM_001135.3;ACAN,intron_variant,,ENST00000617301,;ACAN,downstream_gene_variant,,ENST00000558207,;,regulatory_region_variant,,ENSR00000278890,; G ENSG00000157766 ENST00000439576 Transcript missense_variant 3327/8840 2953/7593 985/2530 T/A Act/Gct rs200194458,COSM3678472,COSM3678471,COSM2014837,COSM2014836 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 tolerated(0.12) benign(0.147) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42 0.0012 0.0008 0.005 uncertain_significance 0,1,1,1,1 25356970 MODERATE 1 SNV 5 1,1,1,1,1 1 PASS CAC . . 0.0003679 9.119e-05 0.0034 9.098e-05 3.316e-05 88855538 UNC45A . GRCh38 chr15 90952989 90952989 + Missense_Mutation SNP T T G novel 7316-1854 BS_DF6YZT8Y T T c.2364T>G p.His788Gln p.H788Q ENST00000418476 18/20 66 58 7 30 29 0 UNC45A,missense_variant,p.His773Gln,ENST00000394275,NM_001323621.1,NM_001039675.1;UNC45A,missense_variant,p.His928Gln,ENST00000639885,;UNC45A,missense_variant,p.His788Gln,ENST00000418476,NM_018671.4,NM_001323620.1,NM_001323619.1;RCCD1,upstream_gene_variant,,ENST00000394258,NM_033544.2,NM_001017919.1;RCCD1,upstream_gene_variant,,ENST00000555155,;RCCD1,upstream_gene_variant,,ENST00000556618,;AC068831.1,non_coding_transcript_exon_variant,,ENST00000553321,;RCCD1,upstream_gene_variant,,ENST00000556774,;UNC45A,non_coding_transcript_exon_variant,,ENST00000487875,;UNC45A,non_coding_transcript_exon_variant,,ENST00000471780,;RCCD1,upstream_gene_variant,,ENST00000554302,;RCCD1,upstream_gene_variant,,ENST00000555737,;RCCD1,upstream_gene_variant,,ENST00000556333,;UNC45A,downstream_gene_variant,,ENST00000556704,;RCCD1,upstream_gene_variant,,ENST00000557266,; G ENSG00000140553 ENST00000418476 Transcript missense_variant 2404/3252 2364/2835 788/944 H/Q caT/caG 1 1 UNC45A HGNC HGNC:30594 protein_coding YES CCDS10367.1 ENSP00000407487 Q9H3U1 UPI000000D953 NM_018671.4,NM_001323620.1,NM_001323619.1 deleterious(0.01) benign(0.044) 18/20 hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF275,Gene3D:1.25.10.10,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS ATG . . 90952989 FBRS . GRCh38 chr16 30659828 30659828 + Missense_Mutation SNP A A C novel 7316-1854 BS_DF6YZT8Y A A c.310A>C p.Ser104Arg p.S104R ENST00000356166 1/18 71 53 16 27 26 0 FBRS,missense_variant,p.Ser104Arg,ENST00000356166,NM_001105079.2;FBRS,upstream_gene_variant,,ENST00000287468,;PRR14,downstream_gene_variant,,ENST00000300835,NM_024031.3;PRR14,downstream_gene_variant,,ENST00000542965,NM_001320464.1;FBRS,upstream_gene_variant,,ENST00000482749,;PRR14,downstream_gene_variant,,ENST00000571654,;PRR14,downstream_gene_variant,,ENST00000287463,;FBRS,upstream_gene_variant,,ENST00000468966,;FBRS,upstream_gene_variant,,ENST00000484152,;FBRS,upstream_gene_variant,,ENST00000498588,;FBRS,upstream_gene_variant,,ENST00000543786,;PRR14,downstream_gene_variant,,ENST00000564946,;PRR14,downstream_gene_variant,,ENST00000565977,;PRR14,downstream_gene_variant,,ENST00000567322,;PRR14,downstream_gene_variant,,ENST00000567989,;,regulatory_region_variant,,ENSR00000085232,; C ENSG00000156860 ENST00000356166 Transcript missense_variant 1398/5200 310/2943 104/980 S/R Agc/Cgc 1 1 FBRS HGNC HGNC:20442 protein_coding YES CCDS45462.2 ENSP00000348489 J3KNZ9 UPI0000E59D83 NM_001105079.2 deleterious_low_confidence(0) unknown(0) 1/18 mobidb-lite MODERATE SNV 5 PASS CAG . . 30659828 AC005324.3 . GRCh38 chr17 15613923 15613923 + Missense_Mutation SNP G G C rs62070406 7316-1854 BS_DF6YZT8Y G G c.1711C>G p.Leu571Val p.L571V ENST00000455584 9/17 33 20 12 16 16 0 AC005324.3,missense_variant,p.Leu571Val,ENST00000455584,;CDRT1,missense_variant,p.Leu261Val,ENST00000395667,NM_001282540.1;CDRT1,missense_variant,p.Leu261Val,ENST00000395906,NM_006382.3;CDRT1,missense_variant,p.Leu55Val,ENST00000261644,; C ENSG00000251537 ENST00000455584 Transcript missense_variant 1755/5514 1711/2862 571/953 L/V Ctg/Gtg rs62070406,COSM4129601,COSM4129600,COSM4000022,COSM4000021 1 -1 AC005324.3 Clone_based_ensembl_gene protein_coding YES ENSP00000402644 H0Y626 UPI000268AF94 deleterious_low_confidence(0.03) benign(0.236) 9/17 hmmpanther:PTHR19872 0.3381 0.3835 0.2896 0.4206 0.2068 0.3609 0,1,1,1,1 MODERATE SNV 2 0,1,1,1,1 PASS AGG . . 0.2013 0.339 0.2604 0.113 0.3415 0.1973 0.1402 0.1778 0.2369 15613923 RAB31 . GRCh38 chr18 9845587 9845587 + Missense_Mutation SNP T T G novel 7316-1854 BS_DF6YZT8Y T T c.386T>G p.Val129Gly p.V129G ENST00000578921 6/7 57 48 7 31 30 0 RAB31,missense_variant,p.Val129Gly,ENST00000578921,NM_006868.3;RNA5SP449,upstream_gene_variant,,ENST00000516871,;RAB31,non_coding_transcript_exon_variant,,ENST00000583921,;RAB31,non_coding_transcript_exon_variant,,ENST00000577796,;RAB31,non_coding_transcript_exon_variant,,ENST00000577371,;RAB31,intron_variant,,ENST00000435762,;RAB31,upstream_gene_variant,,ENST00000580795,;RAB31,synonymous_variant,p.Gly69=,ENST00000581109,;RAB31,3_prime_UTR_variant,,ENST00000578734,; G ENSG00000168461 ENST00000578921 Transcript missense_variant 627/4055 386/588 129/195 V/G gTt/gGt 1 1 RAB31 HGNC HGNC:9771 protein_coding YES CCDS45826.1 ENSP00000461945 Q13636 UPI00000729DB NM_006868.3 deleterious(0) probably_damaging(1) 6/7 Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF588,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231,cd01860 MODERATE 1 SNV 1 PASS GTT . . 9845587 TBXA2R . GRCh38 chr19 3595011 3595011 + Missense_Mutation SNP C C A 7316-1854 BS_DF6YZT8Y C C c.1049G>T p.Arg350Leu p.R350L ENST00000411851 4/4 49 38 5 31 29 0 TBXA2R,missense_variant,p.Arg350Leu,ENST00000411851,NM_201636.2;TBXA2R,3_prime_UTR_variant,,ENST00000375190,NM_001060.5;TBXA2R,3_prime_UTR_variant,,ENST00000589966,;GIPC3,downstream_gene_variant,,ENST00000322315,;GIPC3,downstream_gene_variant,,ENST00000644452,NM_133261.2;GIPC3,downstream_gene_variant,,ENST00000644946,;TBXA2R,downstream_gene_variant,,ENST00000587717,; A ENSG00000006638 ENST00000411851 Transcript missense_variant 1263/1494 1049/1224 350/407 R/L cGc/cTc COSM4131670,COSM3396338 1 -1 TBXA2R HGNC HGNC:11608 protein_coding YES CCDS54198.1 ENSP00000393333 P21731 UPI00000711C4 NM_201636.2 tolerated(0.14) benign(0.005) 4/4 Prints_domain:PR02045 1,1 MODERATE SNV 2 1,1 1 PASS GCG . . 3595011 ZNF708 . GRCh38 chr19 21293816 21293816 + Missense_Mutation SNP C C A 7316-1854 BS_DF6YZT8Y C C c.1150G>T p.Val384Leu p.V384L ENST00000356929 4/4 61 47 6 31 30 0 ZNF708,missense_variant,p.Val384Leu,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; A ENSG00000182141 ENST00000356929 Transcript missense_variant 1348/4004 1150/1692 384/563 V/L Gta/Tta COSM1189973 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 tolerated(0.25) benign(0.041) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS ACC . . 21293816 SBSN . GRCh38 chr19 35527653 35527653 + Missense_Mutation SNP G G T 7316-1854 BS_DF6YZT8Y G G c.629C>A p.Ala210Asp p.A210D ENST00000452271 1/4 58 47 5 32 30 0 SBSN,missense_variant,p.Ala210Asp,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; T ENSG00000189001 ENST00000452271 Transcript missense_variant 658/1945 629/1773 210/590 A/D gCc/gAc COSM6290357 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 tolerated(0.33) possibly_damaging(0.804) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS GGC . . 35527653 ZNF260 . GRCh38 chr19 36514701 36514701 + Missense_Mutation SNP T T G novel 7316-1854 BS_DF6YZT8Y T T c.538A>C p.Ile180Leu p.I180L ENST00000523638 3/3 61 54 7 47 46 0 ZNF260,missense_variant,p.Ile180Leu,ENST00000523638,NM_001166038.1,NM_001166037.1;ZNF260,missense_variant,p.Ile180Leu,ENST00000592282,NM_001012756.2;ZNF260,missense_variant,p.Ile180Leu,ENST00000588993,NM_001166036.1;ZNF260,missense_variant,p.Ile180Leu,ENST00000593142,; G ENSG00000254004 ENST00000523638 Transcript missense_variant 1660/5666 538/1239 180/412 I/L Att/Ctt 1 -1 ZNF260 HGNC HGNC:13499 protein_coding YES CCDS33003.1 ENSP00000429803 Q3ZCT1 UPI00001984F1 NM_001166038.1,NM_001166037.1 tolerated(0.17) benign(0.009) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF59,hmmpanther:PTHR24381:SF59,PROSITE_patterns:PS00028,PIRSF_domain:PIRSF037113,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS ATG . . 36514701 PLCG1 . GRCh38 chr20 41164168 41164168 + Missense_Mutation SNP A A C novel 7316-1854 BS_DF6YZT8Y A A c.1184A>C p.His395Pro p.H395P ENST00000244007 13/33 63 53 7 41 40 0 PLCG1,missense_variant,p.His395Pro,ENST00000373271,NM_182811.1;PLCG1,missense_variant,p.His395Pro,ENST00000244007,NM_002660.2;PLCG1,upstream_gene_variant,,ENST00000612731,;MIR6871,upstream_gene_variant,,ENST00000613433,;PLCG1,downstream_gene_variant,,ENST00000483646,;PLCG1,upstream_gene_variant,,ENST00000617873,;PLCG1,upstream_gene_variant,,ENST00000619272,;PLCG1,upstream_gene_variant,,ENST00000465571,;PLCG1,downstream_gene_variant,,ENST00000470528,;PLCG1,upstream_gene_variant,,ENST00000473632,;PLCG1,upstream_gene_variant,,ENST00000477870,;PLCG1,upstream_gene_variant,,ENST00000483175,;PLCG1,downstream_gene_variant,,ENST00000490253,;PLCG1,downstream_gene_variant,,ENST00000492148,; C ENSG00000124181 ENST00000244007 Transcript missense_variant 1381/5285 1184/3876 395/1291 H/P cAc/cCc 1 1 PLCG1 HGNC HGNC:9065 protein_coding YES CCDS13313.1 ENSP00000244007 P19174 UPI00001B94DD NM_002660.2 tolerated(0.07) benign(0.061) 13/33 Gene3D:3.20.20.190,Pfam_domain:PF00388,PIRSF_domain:PIRSF000952,PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,SMART_domains:SM00148,Superfamily_domains:SSF51695,cd08592 MODERATE 1 SNV 5 1 PASS CAC . . 41164168 SYNJ1 . GRCh38 chr21 32631375 32631375 + Missense_Mutation SNP C C T novel 7316-1854 BS_DF6YZT8Y C C c.4459G>A p.Gly1487Ser p.G1487S ENST00000433931 32/32 59 54 5 35 34 0 SYNJ1,missense_variant,p.Gly1401Ser,ENST00000630077,NM_001160306.1;SYNJ1,missense_variant,p.Gly1487Ser,ENST00000433931,NM_003895.3;SYNJ1,3_prime_UTR_variant,,ENST00000382499,NM_203446.2;SYNJ1,3_prime_UTR_variant,,ENST00000357345,NM_001160302.1;SYNJ1,3_prime_UTR_variant,,ENST00000382491,;SYNJ1,3_prime_UTR_variant,,ENST00000438952,;SYNJ1,downstream_gene_variant,,ENST00000418301,; T ENSG00000159082 ENST00000433931 Transcript missense_variant 4467/4852 4459/4839 1487/1612 G/S Ggt/Agt 1 -1 SYNJ1 HGNC HGNC:11503 protein_coding YES CCDS33539.2 ENSP00000409667 J3KQV8 UPI0001A47572 NM_003895.3 tolerated_low_confidence(1) benign(0.003) 32/32 mobidb-lite MODERATE 1 SNV 1 1 PASS CCA . . 32631375 CSF2RA . GRCh38 chrX 1303299 1303299 + Missense_Mutation SNP A A T 7316-1854 BS_DF6YZT8Y A A c.985A>T p.Asn329Tyr p.N329Y ENST00000417535 11/14 66 48 11 36 35 0 CSF2RA,missense_variant,p.Asn329Tyr,ENST00000417535,NM_001161530.1;CSF2RA,intron_variant,,ENST00000355432,NM_172246.2;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2;CSF2RA,intron_variant,,ENST00000381500,NM_172247.2;CSF2RA,intron_variant,,ENST00000381509,NM_001161531.1;CSF2RA,intron_variant,,ENST00000381524,;CSF2RA,intron_variant,,ENST00000381529,NM_172245.2,NM_006140.4;CSF2RA,intron_variant,,ENST00000432318,NM_001161529.1;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;RNA5SP498,upstream_gene_variant,,ENST00000411342,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000498153,;CSF2RA,intron_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000493312,;CSF2RA,intron_variant,,ENST00000486791,; T ENSG00000198223 ENST00000417535 Transcript missense_variant 1179/1955 985/1305 329/434 N/Y Aat/Tat COSM5956821 1 1 CSF2RA HGNC HGNC:2435 protein_coding YES CCDS55359.1 ENSP00000394227 P15509 UPI000159C3E4 NM_001161530.1 tolerated(0.15) benign(0.007) 11/14 hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF94 1 MODERATE 1 SNV 5 1 1 PASS CAA . . 1303299 TEX13D . GRCh38 chrX 124334206 124334206 + Missense_Mutation SNP T T G rs1248850930 7316-1854 BS_DF6YZT8Y T T c.1289T>G p.Ile430Ser p.I430S ENST00000632372 1/1 31 23 6 13 13 0 TEX13D,missense_variant,p.Ile430Ser,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; G ENSG00000282419 ENST00000632372 Transcript missense_variant 1547/4203 1289/2145 430/714 I/S aTc/aGc rs1248850930 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.89) benign(0.011) 1/1 MODERATE 1 SNV PASS ATC . . 124334206 FLG2 . GRCh38 chr1 152353514 152353514 + Missense_Mutation SNP A A T 7316-905 BS_22PCHWT3 A A c.4272T>A p.His1424Gln p.H1424Q ENST00000388718 3/3 40 31 5 47 42 0 FLG2,missense_variant,p.His1424Gln,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 4345/9124 4272/7176 1424/2391 H/Q caT/caA COSM6200454 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.59) benign(0.053) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS TAT . . 152353514 KCNJ9 . GRCh38 chr1 160084044 160084044 + Missense_Mutation SNP A A C novel 7316-905 BS_22PCHWT3 A A c.14A>C p.Asn5Thr p.N5T ENST00000368088 2/3 57 48 8 33 33 0 KCNJ9,missense_variant,p.Asn5Thr,ENST00000368088,NM_004983.2;AL121987.1,downstream_gene_variant,,ENST00000435580,;,regulatory_region_variant,,ENSR00000014498,; C ENSG00000162728 ENST00000368088 Transcript missense_variant 256/4170 14/1182 5/393 N/T aAc/aCc 1 1 KCNJ9 HGNC HGNC:6270 protein_coding YES CCDS1194.1 ENSP00000357067 Q92806 UPI000013E1B3 NM_004983.2 tolerated(0.19) benign(0.017) 2/3 mobidb-lite,hmmpanther:PTHR11767:SF17,hmmpanther:PTHR11767,PIRSF_domain:PIRSF005465,Prints_domain:PR01329 MODERATE 1 SNV 1 PASS AAC . . 160084044 PRG4 . GRCh38 chr1 186307917 186307917 + Missense_Mutation SNP T T C 7316-905 BS_22PCHWT3 T T c.2198T>C p.Leu733Pro p.L733P ENST00000445192 7/13 35 24 7 28 25 1 PRG4,missense_variant,p.Leu733Pro,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Leu692Pro,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Leu690Pro,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Leu640Pro,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Leu599Pro,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,; C ENSG00000116690 ENST00000445192 Transcript missense_variant 2243/5044 2198/4215 733/1404 L/P cTt/cCt COSM6288644 1 1 PRG4 HGNC HGNC:9364 protein_coding YES CCDS1369.1 ENSP00000399679 Q92954 UPI0004620CBB NM_005807.4 tolerated(0.73) benign(0) 7/13 mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE SNV 5 1 1 PASS CTT . . 186307917 C2orf16 . GRCh38 chr2 27581776 27581776 + Missense_Mutation SNP A A T 7316-905 BS_22PCHWT3 A A c.5204A>T p.His1735Leu p.H1735L ENST00000408964 1/1 45 32 6 41 37 0 C2orf16,missense_variant,p.His5139Leu,ENST00000447166,;C2orf16,missense_variant,p.His1735Leu,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; T ENSG00000221843 ENST00000408964 Transcript missense_variant 5255/6200 5204/5955 1735/1984 H/L cAc/cTc COSM4901863,COSM4901862 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(0.62) benign(0.031) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg 1,1 MODERATE SNV 1,1 PASS CAC . . 27581776 TTN . GRCh38 chr2 178652721 178652721 + Missense_Mutation SNP T T A rs746094582 7316-905 BS_22PCHWT3 T T c.38975A>T p.Lys12992Ile p.K12992I ENST00000589042 201/363 54 48 5 45 45 0 TTN,missense_variant,p.Lys12992Ile,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; A ENSG00000155657 ENST00000589042 Transcript missense_variant 39200/109224 38975/107976 12992/35991 K/I aAa/aTa rs746094582 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 benign(0.082) 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS TTT . . 4.107e-06 9.098e-06 178652721 MUC20 . GRCh38 chr3 195725778 195725778 + Missense_Mutation SNP C C T rs200981173 7316-905 BS_22PCHWT3 C C c.1175C>T p.Pro392Leu p.P392L ENST00000447234 2/4 34 23 11 30 28 1 MUC20,missense_variant,p.Pro357Leu,ENST00000445522,;MUC20,missense_variant,p.Pro392Leu,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Pro392Leu,ENST00000436408,;MUC20,missense_variant,p.Pro221Leu,ENST00000320736,;MUC20,upstream_gene_variant,,ENST00000423938,;MUC20-OT1,intron_variant,,ENST00000594446,;MUC20-OT1,intron_variant,,ENST00000595086,;MUC20-OT1,intron_variant,,ENST00000597662,;MUC20-OT1,intron_variant,,ENST00000600197,;MUC20-OT1,intron_variant,,ENST00000626093,;MUC20-OT1,intron_variant,,ENST00000627035,;MUC20-OT1,intron_variant,,ENST00000627297,;MUC20-OT1,intron_variant,,ENST00000627993,;MUC20-OT1,intron_variant,,ENST00000628125,;MUC20-OT1,intron_variant,,ENST00000628392,;MUC20-OT1,intron_variant,,ENST00000628982,;MUC20-OT1,intron_variant,,ENST00000629537,;MUC20-OT1,intron_variant,,ENST00000629721,;MUC20-OT1,intron_variant,,ENST00000629807,;MUC20-OT1,intron_variant,,ENST00000631359,;MUC20-OT1,downstream_gene_variant,,ENST00000432194,;MUC20-OT1,downstream_gene_variant,,ENST00000455807,;MUC20-OT1,downstream_gene_variant,,ENST00000594976,;MUC20-OT1,downstream_gene_variant,,ENST00000599566,;MUC20-OT1,downstream_gene_variant,,ENST00000600288,;MUC20-OT1,downstream_gene_variant,,ENST00000612098,;MUC20-OT1,downstream_gene_variant,,ENST00000625383,;MUC20-OT1,downstream_gene_variant,,ENST00000625531,;MUC20-OT1,downstream_gene_variant,,ENST00000625665,;MUC20-OT1,downstream_gene_variant,,ENST00000626566,;MUC20-OT1,downstream_gene_variant,,ENST00000626852,;MUC20-OT1,downstream_gene_variant,,ENST00000626872,;MUC20-OT1,downstream_gene_variant,,ENST00000626979,;MUC20-OT1,downstream_gene_variant,,ENST00000627471,;MUC20-OT1,downstream_gene_variant,,ENST00000627609,;MUC20-OT1,downstream_gene_variant,,ENST00000630197,;MUC20-OT1,downstream_gene_variant,,ENST00000630874,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,upstream_gene_variant,,ENST00000498018,; T ENSG00000176945 ENST00000447234 Transcript missense_variant 1301/2589 1175/2130 392/709 P/L cCc/cTc rs200981173,COSM1484986 1 1 MUC20 HGNC HGNC:23282 protein_coding YES CCDS63877.1 ENSP00000414350 Q8N307 UPI000198CC5A NM_001282506.1 deleterious_low_confidence(0) benign(0.096) 2/4 mobidb-lite,hmmpanther:PTHR37358 0,1 MODERATE 1 SNV 5 0,1 PASS CCC . . 0.005023 0.0009771 0.002016 0.001549 0.0004861 0.01772 0.00474 0.003325 0.006276 195725778 RFC1 . GRCh38 chr4 39342378 39342378 + Missense_Mutation SNP G G A rs369009654 7316-905 BS_22PCHWT3 G G c.298C>T p.Arg100Trp p.R100W ENST00000381897 4/25 46 35 10 28 27 0 RFC1,missense_variant,p.Arg100Trp,ENST00000381897,NM_001204747.1;RFC1,missense_variant,p.Arg100Trp,ENST00000349703,NM_002913.4;RFC1,missense_variant,p.Arg72Trp,ENST00000503784,;RFC1,non_coding_transcript_exon_variant,,ENST00000418436,;RFC1,missense_variant,p.Arg100Trp,ENST00000512275,;RFC1,non_coding_transcript_exon_variant,,ENST00000504849,; A ENSG00000035928 ENST00000381897 Transcript missense_variant 432/4886 298/3447 100/1148 R/W Cgg/Tgg rs369009654 1 -1 RFC1 HGNC HGNC:9969 protein_coding YES CCDS56329.1 ENSP00000371321 P35251 UPI0000167BB4 NM_001204747.1 deleterious_low_confidence(0) possibly_damaging(0.513) 4/25 PIRSF_domain:PIRSF036578,hmmpanther:PTHR23389,hmmpanther:PTHR23389:SF22,mobidb-lite 0.0001163 MODERATE 1 SNV 1 PASS CGT . . 8.132e-06 2.979e-05 8.973e-06 39342378 NRG2 . GRCh38 chr5 139853020 139853020 + Missense_Mutation SNP G G A rs769231072 7316-905 BS_22PCHWT3 G G c.1300C>T p.Arg434Trp p.R434W ENST00000361474 7/10 52 47 5 34 33 0 NRG2,missense_variant,p.Arg368Trp,ENST00000541337,NM_001184935.1;NRG2,missense_variant,p.Arg434Trp,ENST00000361474,NM_004883.2;NRG2,missense_variant,p.Arg442Trp,ENST00000289422,NM_013982.2;NRG2,missense_variant,p.Arg436Trp,ENST00000358522,NM_013983.2;NRG2,missense_variant,p.Arg428Trp,ENST00000289409,NM_013981.3;NRG2,missense_variant,p.Arg231Trp,ENST00000340391,;AC008667.2,intron_variant,,ENST00000504413,;NRG2,3_prime_UTR_variant,,ENST00000378238,; A ENSG00000158458 ENST00000361474 Transcript missense_variant 1525/3020 1300/2553 434/850 R/W Cgg/Tgg rs769231072 1 -1 NRG2 HGNC HGNC:7998 protein_coding YES CCDS4217.1 ENSP00000354910 O14511 UPI0000130507 NM_004883.2 deleterious(0) probably_damaging(1) 7/10 hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF20,Pfam_domain:PF02158 MODERATE 1 SNV 1 PASS CGC . . 8.159e-06 5.982e-05 139853020 BTNL8 . GRCh38 chr5 180948376 180948379 + Splice_Site DEL GTAA GTAA - rs576733269 7316-905 BS_22PCHWT3 GTAA GTAA c.808+4_808+7del p.X270_splice ENST00000340184 33 25 7 12 12 0 BTNL8,splice_donor_variant,,ENST00000231229,NM_024850.2;BTNL8,splice_donor_variant,,ENST00000340184,NM_001040462.2;BTNL8,splice_donor_variant,,ENST00000400707,NM_001159709.1;BTNL8,splice_donor_variant,,ENST00000505126,;BTNL8,splice_donor_variant,,ENST00000511704,NM_001159707.1;BTNL8,splice_donor_variant,,ENST00000533815,NM_001159710.1;BTNL8,splice_donor_variant,,ENST00000610640,;BTNL8,intron_variant,,ENST00000508408,NM_001159708.1;BTNL8,splice_donor_variant,,ENST00000503543,;BTNL8,non_coding_transcript_exon_variant,,ENST00000513442,;BTNL8,downstream_gene_variant,,ENST00000514448,;RPS29P12,downstream_gene_variant,,ENST00000460178,; - ENSG00000113303 ENST00000340184 Transcript splice_donor_variant,intron_variant rs576733269,COSM5946852,COSM243261 1 1 BTNL8 HGNC HGNC:26131 protein_coding YES CCDS43413.1 ENSP00000342197 Q6UX41 UPI00000389ED NM_001040462.2 5/7 0.0345 0.0083 0.085 0.0397 0.0577 0.0051 0.003089 0.01382 0,1,1 HIGH 1 deletion 1 3 0,1,1 PASS GGGTAAG . . 0.0001494 0.0003269 0.001056 6.143e-05 6.92e-05 0.0001982 180948375 MUCL3 . GRCh38 chr6 30949611 30949611 + Missense_Mutation SNP C C A rs538677376 7316-905 BS_22PCHWT3 C C c.1147C>A p.His383Asn p.H383N ENST00000462446 2/3 44 33 8 40 39 0 MUCL3,missense_variant,p.His450Asn,ENST00000636043,;MUCL3,missense_variant,p.His383Asn,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 1175/5314 1147/4182 383/1393 H/N Cat/Aat rs538677376,COSM3774207 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.19) possibly_damaging(0.451) 2/3 mobidb-lite,hmmpanther:PTHR22094 0.0018 0.0015 0.004 0.002 0.001 0,1 MODERATE SNV 5 0,1 1 PASS ACA . . 6.773e-06 0.0001333 30949611 MUCL3 . GRCh38 chr6 30949614 30949614 + Missense_Mutation SNP G G A rs558583892 7316-905 BS_22PCHWT3 G G c.1150G>A p.Gly384Arg p.G384R ENST00000462446 2/3 40 28 5 39 36 1 MUCL3,missense_variant,p.Gly451Arg,ENST00000636043,;MUCL3,missense_variant,p.Gly384Arg,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 1178/5314 1150/4182 384/1393 G/R Gga/Aga rs558583892,COSM4160591 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.8) benign(0.076) 2/3 mobidb-lite,hmmpanther:PTHR22094 0.0002 0.001 0,1 MODERATE SNV 5 0,1 1 PASS TGG . . 30949614 MUC17 . GRCh38 chr7 101040284 101040284 + Missense_Mutation SNP G G C rs146122067 7316-905 BS_22PCHWT3 G G c.8868G>C p.Arg2956Ser p.R2956S ENST00000306151 3/13 57 46 8 56 54 1 MUC17,missense_variant,p.Arg2956Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Arg2956Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 8932/14247 8868/13482 2956/4493 R/S agG/agC rs146122067,COSM6289973 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.001) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS GGA . . 0.0001764 7.963e-05 0.0001837 0.0004635 0.0001487 0.0006542 0.0002984 101040284 TRBV5-7 . GRCh38 chr7 142520324 142520324 + Missense_Mutation SNP C C A rs201768550 7316-905 BS_22PCHWT3 C C c.111C>A p.His37Gln p.H37Q ENST00000390378 2/2 85 74 11 46 45 0 TRBV5-7,missense_variant,p.His37Gln,ENST00000390378,; A ENSG00000211731 ENST00000390378 Transcript missense_variant 111/343 111/343 37/114 H/Q caC/caA rs201768550 1 1 TRBV5-7 HGNC HGNC:12224 TR_V_gene YES ENSP00000374901 A0A0A0MS05 UPI000011DFCF tolerated(1) benign(0) 2/2 0.0014 0.001 MODERATE 1 SNV PASS ACG . . 142520324 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-905 BS_22PCHWT3 T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 58 47 8 48 48 0 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 ANKRD20A4 . GRCh38 chr9 64411223 64411223 + Missense_Mutation SNP T T G rs78815814 7316-905 BS_22PCHWT3 T T c.1937T>G p.Met646Arg p.M646R ENST00000357336 15/15 41 34 7 33 32 0 ANKRD20A4,missense_variant,p.Met646Arg,ENST00000357336,NM_001098805.1; G ENSG00000172014 ENST00000357336 Transcript missense_variant 2218/4137 1937/2472 646/823 M/R aTg/aGg rs78815814,COSM1490069 1 1 ANKRD20A4 HGNC HGNC:31982 protein_coding YES CCDS43828.1 ENSP00000349891 Q4UJ75 UPI000051917A NM_001098805.1 deleterious(0) benign(0.02) 15/15 Gene3D:1.10.287.620,Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 0.09987 0.05519 0.04871 0.1067 0.02442 0.2393 0.1176 0.07536 0.07804 64411223 FAM86C1 . GRCh38 chr11 71796140 71796140 + Missense_Mutation SNP T T C rs74830167 7316-905 BS_22PCHWT3 T T c.385T>C p.Cys129Arg p.C129R ENST00000359244 4/5 51 42 8 27 27 0 FAM86C1,missense_variant,p.Cys129Arg,ENST00000359244,NM_018172.2;FAM86C1,missense_variant,p.Cys95Arg,ENST00000346333,NM_152563.2;FAM86C1,missense_variant,p.Cys122Arg,ENST00000426628,NM_001099653.1;AP002495.1,intron_variant,,ENST00000511954,;AP002495.1,intron_variant,,ENST00000524714,;FAM86C1,missense_variant,p.Cys95Arg,ENST00000528685,;FAM86C1,3_prime_UTR_variant,,ENST00000510443,;FAM86C1,3_prime_UTR_variant,,ENST00000526393,;ALG1L9P,downstream_gene_variant,,ENST00000532875,; C ENSG00000158483 ENST00000359244 Transcript missense_variant 408/2110 385/498 129/165 C/R Tgt/Cgt rs74830167,COSM1599984,COSM1599983,COSM1599982 1 1 FAM86C1 HGNC HGNC:25561 protein_coding YES CCDS41686.1 ENSP00000352182 Q9NVL1 UPI000013DF79 NM_018172.2 tolerated_low_confidence(0.91) benign(0) 4/5 hmmpanther:PTHR14614,hmmpanther:PTHR14614:SF96 0,1,1,1 MODERATE 1 SNV 2 0,1,1,1 PASS ATG . . 0.05247 0.07028 0.0333 0.05848 0.04125 0.05222 0.04424 0.05327 0.1007 71796140 FAM186A . GRCh38 chr12 50352544 50352544 + Missense_Mutation SNP C C T rs1312685666 7316-905 BS_22PCHWT3 C C c.4288G>A p.Ala1430Thr p.A1430T ENST00000327337 4/8 37 27 6 23 21 0 FAM186A,missense_variant,p.Ala1430Thr,ENST00000543111,;FAM186A,missense_variant,p.Ala1430Thr,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; T ENSG00000185958 ENST00000327337 Transcript missense_variant 4288/7127 4288/7056 1430/2351 A/T Gct/Act rs1312685666 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.19) benign(0.034) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 MODERATE 1 SNV 5 PASS GCC . . 6.75e-06 4.222e-05 50352544 OR6C76 . GRCh38 chr12 55427174 55427175 + Frame_Shift_Ins INS - - A rs769942775 7316-905 BS_22PCHWT3 - - c.933dup p.His312ThrfsTer? p.H312Tfs*? ENST00000328314 1/1 37 24 7 29 28 0 OR6C76,frameshift_variant,p.His312ThrfsTer?,ENST00000328314,NM_001005183.1; A ENSG00000185821 ENST00000328314 Transcript frameshift_variant 921-922/939 921-922/939 307-308/312 -/X -/A rs769942775,TMP_ESP_12_55820959_55820960 1 1 OR6C76 HGNC HGNC:31305 protein_coding YES CCDS31823.1 ENSP00000328402 A6NM76 A0A126GW16 UPI000023786F NM_001005183.1 1/1 Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF18,Superfamily_domains:SSF81321 0.147 0.1253 HIGH 1 insertion 12 PASS ACA . . 0.1145 0.2088 0.1145 0.1239 0.2406 0.06225 0.1041 0.1192 0.07525 55427174 NCOR2 . GRCh38 chr12 124378371 124378371 + Missense_Mutation SNP T T G novel 7316-905 BS_22PCHWT3 T T c.2033A>C p.Asn678Thr p.N678T ENST00000405201 18/47 51 39 11 32 32 0 NCOR2,missense_variant,p.Asn678Thr,ENST00000405201,NM_006312.5;NCOR2,missense_variant,p.Asn677Thr,ENST00000404621,NM_001077261.3;NCOR2,missense_variant,p.Asn677Thr,ENST00000429285,NM_001206654.1;NCOR2,missense_variant,p.Asn235Thr,ENST00000356219,;NCOR2,missense_variant,p.Asn235Thr,ENST00000404121,;NCOR2,missense_variant,p.Asn678Thr,ENST00000458234,;NCOR2,missense_variant,p.Asn68Thr,ENST00000448614,; G ENSG00000196498 ENST00000405201 Transcript missense_variant 2034/8533 2033/7545 678/2514 N/T aAc/aCc 1 -1 NCOR2 HGNC HGNC:7673 protein_coding YES CCDS41858.2 ENSP00000384018 C9JFD3 UPI000013D737 NM_006312.5 tolerated(0.16) possibly_damaging(0.723) 18/47 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF21,Gene3D:1.10.10.60 MODERATE 1 SNV 1 1 PASS GTT . . 124378371 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-905 BS_22PCHWT3 A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 57 37 8 36 34 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 TMEM259 . GRCh38 chr19 1011437 1011437 + Missense_Mutation SNP T T G novel 7316-905 BS_22PCHWT3 T T c.1147A>C p.Ile383Leu p.I383L ENST00000356663 9/11 62 53 7 27 27 0 TMEM259,missense_variant,p.Ile383Leu,ENST00000356663,NM_001033026.1;TMEM259,missense_variant,p.Ile383Leu,ENST00000333175,NM_033420.3;TMEM259,missense_variant,p.Ile86Leu,ENST00000586285,;TMEM259,synonymous_variant,p.Ser362=,ENST00000592590,;GRIN3B,downstream_gene_variant,,ENST00000234389,NM_138690.2;TMEM259,downstream_gene_variant,,ENST00000586250,;AC004528.2,downstream_gene_variant,,ENST00000610701,;TMEM259,missense_variant,p.Ile383Leu,ENST00000593068,;TMEM259,non_coding_transcript_exon_variant,,ENST00000586704,;TMEM259,non_coding_transcript_exon_variant,,ENST00000592618,;TMEM259,downstream_gene_variant,,ENST00000589055,;TMEM259,downstream_gene_variant,,ENST00000589831,;TMEM259,upstream_gene_variant,,ENST00000592052,;TMEM259,downstream_gene_variant,,ENST00000607316,; G ENSG00000182087 ENST00000356663 Transcript missense_variant 1330/2748 1147/1863 383/620 I/L Atc/Ctc 1 -1 TMEM259 HGNC HGNC:17039 protein_coding YES CCDS32862.1 ENSP00000349087 Q4ZIN3 UPI0000202E8E NM_001033026.1 tolerated(0.09) benign(0.042) 9/11 Pfam_domain:PF09746,hmmpanther:PTHR21650,hmmpanther:PTHR21650:SF4,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS ATG . . 1011437 PRR36 . GRCh38 chr19 7870993 7870993 + Missense_Mutation SNP G G A rs12984448 7316-905 BS_22PCHWT3 G G c.2251C>T p.Pro751Ser p.P751S ENST00000618550 5/6 40 28 9 24 21 0 PRR36,missense_variant,p.Pro751Ser,ENST00000618550,NM_001190467.1;PRR36,intron_variant,,ENST00000615988,;AC010336.3,intron_variant,,ENST00000597156,; A ENSG00000183248 ENST00000618550 Transcript missense_variant 2352/4456 2251/4041 751/1346 P/S Ccc/Tcc rs12984448 1 -1 PRR36 HGNC HGNC:26172 protein_coding YES CCDS74276.1 ENSP00000482374 Q9H6K5 UPI0001DA930F NM_001190467.1 tolerated_low_confidence(0.28) unknown(0) 5/6 hmmpanther:PTHR22427,hmmpanther:PTHR22427,hmmpanther:PTHR22427:SF6,hmmpanther:PTHR22427:SF6,mobidb-lite MODERATE SNV 5 PASS GGA . . 0.002762 0.0004367 0.006935 0.002703 0.00279 0.001398 0.01255 7870993 PRKCSH . GRCh38 chr19 11447526 11447528 + In_Frame_Del DEL GAG GAG - rs3217229 7316-905 BS_22PCHWT3 GAG GAG c.966_968del p.Glu325del p.E325del ENST00000592741 11/18 60 40 6 30 25 0 PRKCSH,inframe_deletion,p.Glu325del,ENST00000591462,NM_001001329.2;PRKCSH,inframe_deletion,p.Glu325del,ENST00000587327,NM_001289102.1;PRKCSH,inframe_deletion,p.Glu325del,ENST00000592741,NM_001289104.1,NM_001289103.1;PRKCSH,inframe_deletion,p.Glu325del,ENST00000589838,NM_002743.3;ELAVL3,downstream_gene_variant,,ENST00000359227,NM_001420.3;PRKCSH,upstream_gene_variant,,ENST00000591510,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000585325,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000592445,;PRKCSH,non_coding_transcript_exon_variant,,ENST00000585540,;PRKCSH,upstream_gene_variant,,ENST00000586486,;PRKCSH,upstream_gene_variant,,ENST00000587290,;PRKCSH,downstream_gene_variant,,ENST00000589990,;PRKCSH,upstream_gene_variant,,ENST00000590098,;PRKCSH,upstream_gene_variant,,ENST00000592435,; - ENSG00000130175 ENST00000592741 Transcript inframe_deletion 1090-1092/2100 937-939/1608 313/535 E/- GAG/- rs3217229,COSM5713331,COSM438565 1 1 PRKCSH HGNC HGNC:9411 protein_coding YES CCDS74286.1 ENSP00000466134 K7ELL7 UPI00002033E5 NM_001289104.1,NM_001289103.1 11/18 Gene3D:1.10.238.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF1,mobidb-lite,Low_complexity_(Seg):seg 0.4493 0.559 0.4323 0.3661 0.4245 0.4243 benign 0,1,1 25741868,23757202 MODERATE 1 deletion 1 29 1,1,1 1 PASS CAGAGG . . 0.3581 0.4093 0.3652 0.3139 0.3568 0.3999 0.3488 0.3466 0.348 11447525 ZNF208 . GRCh38 chr19 21973304 21973304 + Missense_Mutation SNP A A C rs753691282 7316-905 BS_22PCHWT3 A A c.1730T>G p.Val577Gly p.V577G ENST00000397126 4/4 39 31 6 44 44 0 ZNF208,missense_variant,p.Val577Gly,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Val477Gly,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; C ENSG00000160321 ENST00000397126 Transcript missense_variant 1879/3992 1730/3843 577/1280 V/G gTa/gGa rs753691282,COSM3396332,COSM3396331,COSM116302 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,hmmpanther:PTHR24384:SF116,Gene3D:2.20.28.10,Superfamily_domains:SSF57667 0,1,1,1 MODERATE 1 SNV 3 0,1,1,1 PASS TAC . . 5.415e-05 0.0002107 5.86e-05 4.778e-05 3.675e-05 21973304 BACE2 . GRCh38 chr21 41168471 41168471 + Missense_Mutation SNP T T G novel 7316-905 BS_22PCHWT3 T T c.208T>G p.Ser70Ala p.S70A ENST00000330333 1/9 38 29 8 27 27 0 BACE2,missense_variant,p.Ser70Ala,ENST00000347667,NM_138991.2;BACE2,missense_variant,p.Ser70Ala,ENST00000330333,NM_012105.4;BACE2,missense_variant,p.Ser70Ala,ENST00000328735,NM_138992.2;MIR3197,downstream_gene_variant,,ENST00000582241,;,regulatory_region_variant,,ENSR00000142542,; G ENSG00000182240 ENST00000330333 Transcript missense_variant 671/2993 208/1557 70/518 S/A Tcc/Gcc 1 1 BACE2 HGNC HGNC:934 protein_coding YES CCDS13668.1 ENSP00000332979 Q9Y5Z0 UPI00000396BC NM_012105.4 tolerated(0.11) benign(0.012) 1/9 hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF262,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTC . . 41168471 FAM47C . GRCh38 chrX 37009402 37009402 + Missense_Mutation SNP A A G 7316-905 BS_22PCHWT3 A A c.992A>G p.His331Arg p.H331R ENST00000358047 1/1 45 26 8 36 34 0 FAM47C,missense_variant,p.His331Arg,ENST00000358047,NM_001013736.2;,regulatory_region_variant,,ENSR00000340352,; G ENSG00000198173 ENST00000358047 Transcript missense_variant 1006/3270 992/3108 331/1035 H/R cAc/cGc COSM5627964,COSM5627963 1 1 FAM47C HGNC HGNC:25301 protein_coding YES CCDS35227.1 ENSP00000367913 Q5HY64 UPI000041ABF8 NM_001013736.2 tolerated(0.43) benign(0.051) 1/1 mobidb-lite,hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,hmmpanther:PTHR23213,Pfam_domain:PF14642 1,1 MODERATE 1 SNV 1,1 1 PASS CAC . . 37009402 CITED4 . GRCh38 chr1 40861814 40861814 + Missense_Mutation SNP T T G novel 7316-2760 BS_0V76MCTW T T c.314A>C p.Asn105Thr p.N105T ENST00000372638 1/1 88 78 10 33 32 1 CITED4,missense_variant,p.Asn105Thr,ENST00000372638,NM_133467.2;AC119677.1,upstream_gene_variant,,ENST00000414199,;,regulatory_region_variant,,ENSR00000005267,; G ENSG00000179862 ENST00000372638 Transcript missense_variant 553/1316 314/555 105/184 N/T aAc/aCc 1 -1 CITED4 HGNC HGNC:18696 protein_coding YES CCDS458.1 ENSP00000361721 Q96RK1 UPI000004241F NM_133467.2 tolerated(0.16) benign(0.018) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR17045:SF5,hmmpanther:PTHR17045 MODERATE SNV PASS GTT . . 40861814 C2orf16 . GRCh38 chr2 27581736 27581736 + Missense_Mutation SNP G G T rs754248312 7316-2760 BS_0V76MCTW G G c.5164G>T p.Ala1722Ser p.A1722S ENST00000408964 1/1 86 68 10 42 41 0 C2orf16,missense_variant,p.Ala5126Ser,ENST00000447166,;C2orf16,missense_variant,p.Ala1722Ser,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; T ENSG00000221843 ENST00000408964 Transcript missense_variant 5215/6200 5164/5955 1722/1984 A/S Gct/Tct rs754248312 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(1) benign(0.006) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS CGC . . 4.593e-06 3.898e-05 27581736 FARSB . GRCh38 chr2 222633264 222633264 + Missense_Mutation SNP T T G novel 7316-2760 BS_0V76MCTW T T c.650A>C p.Lys217Thr p.K217T ENST00000281828 7/17 78 71 7 31 31 0 FARSB,missense_variant,p.Lys217Thr,ENST00000281828,NM_005687.4; G ENSG00000116120 ENST00000281828 Transcript missense_variant 914/3369 650/1770 217/589 K/T aAa/aCa 1 -1 FARSB HGNC HGNC:17800 protein_coding YES CCDS2454.1 ENSP00000281828 Q9NSD9 UPI00002096AC NM_005687.4 deleterious(0.01) possibly_damaging(0.572) 7/17 Gene3D:3.50.40.10,Pfam_domain:PF03483,hmmpanther:PTHR10947,hmmpanther:PTHR10947:SF0,SMART_domains:SM00873,TIGRFAM_domain:TIGR00471 MODERATE 1 SNV 1 PASS TTT . . 222633264 SIAH2 . GRCh38 chr3 150762707 150762707 + Missense_Mutation SNP A A C novel 7316-2760 BS_0V76MCTW A A c.143T>G p.Val48Gly p.V48G ENST00000312960 1/2 72 61 11 41 40 1 SIAH2,missense_variant,p.Val48Gly,ENST00000312960,NM_005067.5;SIAH2,intron_variant,,ENST00000482706,;SIAH2-AS1,downstream_gene_variant,,ENST00000461943,;SIAH2,intron_variant,,ENST00000472885,;,regulatory_region_variant,,ENSR00000306890,; C ENSG00000181788 ENST00000312960 Transcript missense_variant 671/2517 143/975 48/324 V/G gTg/gGg 1 -1 SIAH2 HGNC HGNC:10858 protein_coding YES CCDS3152.1 ENSP00000322457 O43255 UPI0000071280 NM_005067.5 deleterious(0.04) benign(0.012) 1/2 hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF11,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 150762707 SAP30 . GRCh38 chr4 173371283 173371283 + Missense_Mutation SNP A A C novel 7316-2760 BS_0V76MCTW A A c.101A>C p.Asn34Thr p.N34T ENST00000296504 1/4 70 58 11 22 22 0 SAP30,missense_variant,p.Asn34Thr,ENST00000296504,NM_003864.3;AC097534.2,upstream_gene_variant,,ENST00000608794,;AC097534.2,upstream_gene_variant,,ENST00000608892,;AC097534.2,upstream_gene_variant,,ENST00000609153,;AC097534.2,upstream_gene_variant,,ENST00000609900,;SAP30,downstream_gene_variant,,ENST00000504618,;,regulatory_region_variant,,ENSR00000176229,; C ENSG00000164105 ENST00000296504 Transcript missense_variant 341/1108 101/663 34/220 N/T aAc/aCc 1 1 SAP30 HGNC HGNC:10532 protein_coding YES CCDS3817.1 ENSP00000296504 O75446 UPI000006F36D NM_003864.3 tolerated_low_confidence(0.28) benign(0.003) 1/4 Low_complexity_(Seg):seg,hmmpanther:PTHR13286,hmmpanther:PTHR13286:SF7 MODERATE 1 SNV 1 PASS AAC . . 173371283 ALDH5A1 . GRCh38 chr6 24495010 24495010 + Missense_Mutation SNP T T G novel 7316-2760 BS_0V76MCTW T T c.14T>G p.Ile5Ser p.I5S ENST00000348925 1/11 90 78 10 44 44 0 ALDH5A1,missense_variant,p.Ile5Ser,ENST00000357578,NM_001080.3;ALDH5A1,missense_variant,p.Ile5Ser,ENST00000348925,NM_170740.1;ALDH5A1,missense_variant,p.Ile5Ser,ENST00000491546,;GPLD1,non_coding_transcript_exon_variant,,ENST00000474784,;GPLD1,non_coding_transcript_exon_variant,,ENST00000475417,;,regulatory_region_variant,,ENSR00000194780,; G ENSG00000112294 ENST00000348925 Transcript missense_variant 42/2266 14/1647 5/548 I/S aTt/aGt 1 1 ALDH5A1 HGNC HGNC:408 protein_coding YES CCDS4556.1 ENSP00000314649 P51649 X5D299 UPI00001619D2 NM_170740.1 tolerated_low_confidence(0.27) benign(0) 1/11 MODERATE 1 SNV 1 1 PASS ATT . . 24495010 MDC1 . GRCh38 chr6 30704981 30704981 + Missense_Mutation SNP C C A rs748601560 7316-2760 BS_0V76MCTW C C c.4202G>T p.Gly1401Val p.G1401V ENST00000376406 10/15 56 38 9 42 40 0 MDC1,missense_variant,p.Gly1401Val,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4850/7576 4202/6270 1401/2089 G/V gGc/gTc rs748601560 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GCC . . 0.007351 0.01338 0.01103 0.003108 0.01969 0.0009711 0.005031 0.01102 0.009859 30704981 MTHFD1L . GRCh38 chr6 150865872 150865872 + Missense_Mutation SNP A A C novel 7316-2760 BS_0V76MCTW A A c.50A>C p.Gln17Pro p.Q17P ENST00000611279 1/28 106 88 14 38 37 0 MTHFD1L,missense_variant,p.Gln17Pro,ENST00000367321,NM_015440.4;MTHFD1L,missense_variant,p.Gln17Pro,ENST00000611279,NM_001242767.1;MTHFD1L,missense_variant,p.Gln17Pro,ENST00000367307,NM_001242769.1,NM_001350488.1;MTHFD1L,upstream_gene_variant,,ENST00000367308,;MTHFD1L,upstream_gene_variant,,ENST00000423867,;MTHFD1L,upstream_gene_variant,,ENST00000618312,NM_001242768.1,NM_001350493.1,NM_001350486.1;MTHFD1L,upstream_gene_variant,,ENST00000441122,;,regulatory_region_variant,,ENSR00000205219,; C ENSG00000120254 ENST00000611279 Transcript missense_variant 194/3475 50/2940 17/979 Q/P cAg/cCg 1 1 MTHFD1L HGNC HGNC:21055 protein_coding YES CCDS75535.1 ENSP00000478253 B7ZM99 UPI000166C73D NM_001242767.1 tolerated_low_confidence(0.15) benign(0) 1/28 hmmpanther:PTHR43274,hmmpanther:PTHR43274:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAG . . 150865872 AGPAT4 . GRCh38 chr6 161153357 161153357 + Missense_Mutation SNP A A C novel 7316-2760 BS_0V76MCTW A A c.653T>G p.Leu218Trp p.L218W ENST00000320285 5/9 120 104 14 43 42 0 AGPAT4,missense_variant,p.Leu218Trp,ENST00000320285,NM_020133.2;AGPAT4,3_prime_UTR_variant,,ENST00000366911,;AGPAT4,upstream_gene_variant,,ENST00000437165,;AGPAT4,3_prime_UTR_variant,,ENST00000436279,; C ENSG00000026652 ENST00000320285 Transcript missense_variant 866/7865 653/1137 218/378 L/W tTg/tGg 1 -1 AGPAT4 HGNC HGNC:20885 protein_coding YES CCDS5280.1 ENSP00000314036 Q9NRZ5 UPI0000035BB6 NM_020133.2 deleterious(0) probably_damaging(0.998) 5/9 cd07990,hmmpanther:PTHR10983,hmmpanther:PTHR10983:SF8,Pfam_domain:PF01553,Gene3D:3.40.1130.10,Superfamily_domains:SSF69593 MODERATE 1 SNV 1 PASS CAA . . 161153357 NACAD . GRCh38 chr7 45083466 45083466 + Missense_Mutation SNP G G A rs201818400 7316-2760 BS_0V76MCTW G G c.2714C>T p.Pro905Leu p.P905L ENST00000490531 2/8 86 69 12 26 26 0 NACAD,missense_variant,p.Pro905Leu,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,; A ENSG00000136274 ENST00000490531 Transcript missense_variant 2734/4780 2714/4689 905/1562 P/L cCt/cTt rs201818400,COSM3718680 1 -1 NACAD HGNC HGNC:22196 protein_coding YES CCDS47582.1 ENSP00000420477 O15069 UPI00001D747D NM_001146334.1 tolerated(0.21) benign(0) 2/8 hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF1,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS AGG . . 0.06077 0.2529 0.1036 0.02042 0.1541 0.004857 0.04472 0.07185 0.06779 45083466 TSC22D4 . GRCh38 chr7 100477938 100477938 + Missense_Mutation SNP T T G novel 7316-2760 BS_0V76MCTW T T c.101A>C p.Gln34Pro p.Q34P ENST00000300181 2/5 95 78 15 25 24 0 TSC22D4,missense_variant,p.Gln34Pro,ENST00000300181,NM_030935.4,NM_001303043.1;TSC22D4,intron_variant,,ENST00000393991,;TSC22D4,upstream_gene_variant,,ENST00000496728,;TSC22D4,non_coding_transcript_exon_variant,,ENST00000493217,;,regulatory_region_variant,,ENSR00000215799,; G ENSG00000166925 ENST00000300181 Transcript missense_variant 856/2383 101/1188 34/395 Q/P cAg/cCg 1 -1 TSC22D4 HGNC HGNC:21696 protein_coding YES CCDS5695.1 ENSP00000300181 Q9Y3Q8 UPI0000001C0B NM_030935.4,NM_001303043.1 tolerated_low_confidence(1) benign(0) 2/5 hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF22,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTG . . 100477938 PRSS2 . GRCh38 chr7 142772052 142772052 + Missense_Mutation SNP C C G rs200484890 7316-2760 BS_0V76MCTW C C c.44C>G p.Ala15Gly p.A15G ENST00000633969 2/6 118 97 19 30 29 0 PRSS2,missense_variant,p.Ala15Gly,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ala15Gly,ENST00000632998,;PRSS2,missense_variant,p.Ala15Gly,ENST00000632805,;PRSS2,missense_variant,p.Ala15Gly,ENST00000539842,NM_002770.3;PRSS2,upstream_gene_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,; G ENSG00000275896 ENST00000633969 Transcript missense_variant 60/852 44/786 15/261 A/G gCt/gGt rs200484890 1 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9 UPI0001578AE2 NM_001303414.1 deleterious(0) benign(0.417) 2/6 hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,Superfamily_domains:SSF50494,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GCT . . 142772052 PRSS2 . GRCh38 chr7 142772057 142772057 + Missense_Mutation SNP C C T rs369591097 7316-2760 BS_0V76MCTW C C c.49C>T p.Pro17Ser p.P17S ENST00000633969 2/6 119 98 20 30 29 0 PRSS2,missense_variant,p.Pro17Ser,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Pro17Ser,ENST00000632998,;PRSS2,missense_variant,p.Pro17Ser,ENST00000632805,;PRSS2,missense_variant,p.Pro17Ser,ENST00000539842,NM_002770.3;PRSS2,upstream_gene_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,; T ENSG00000275896 ENST00000633969 Transcript missense_variant 65/852 49/786 17/261 P/S Ccc/Tcc rs369591097 1 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9 UPI0001578AE2 NM_001303414.1 tolerated(0.09) benign(0.019) 2/6 hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,Superfamily_domains:SSF50494,Low_complexity_(Seg):seg 0.0008 0.003 MODERATE 1 SNV 1 1 PASS CCC . . 142772057 ZNF467 . GRCh38 chr7 149765456 149765456 + Missense_Mutation SNP A A C novel 7316-2760 BS_0V76MCTW A A c.1046T>G p.Phe349Cys p.F349C ENST00000302017 5/5 124 114 9 30 30 0 ZNF467,missense_variant,p.Phe349Cys,ENST00000302017,NM_207336.1;ZNF467,intron_variant,,ENST00000484747,;,regulatory_region_variant,,ENSR00000219642,; C ENSG00000181444 ENST00000302017 Transcript missense_variant 1460/2553 1046/1788 349/595 F/C tTt/tGt 1 -1 ZNF467 HGNC HGNC:23154 protein_coding YES CCDS5899.1 ENSP00000304769 Q7Z7K2 UPI0000160B41 NM_207336.1 tolerated(0.22) benign(0.135) 5/5 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45316,Gene3D:2.40.155.10 MODERATE 1 SNV 1 PASS AAA . . 149765456 AF228730.5 . GRCh38 chr8 7119277 7119277 + Splice_Region SNP G G T rs1239640254 7316-2760 BS_0V76MCTW G G n.532-5G>T ENST00000641436 70 56 8 31 29 0 AF228730.5,splice_region_variant,,ENST00000641436,;AF228730.5,intron_variant,,ENST00000641821,;RPS3AP30,upstream_gene_variant,,ENST00000438784,; T ENSG00000284620 ENST00000641436 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1239640254 1 1 AF228730.5 Clone_based_ensembl_gene processed_transcript YES 2/5 LOW 1 SNV PASS TGG . . 7119277 ADGRB1 . GRCh38 chr8 142477213 142477213 + Missense_Mutation SNP A A C 7316-2760 BS_0V76MCTW A A c.1157A>C p.Tyr386Ser p.Y386S ENST00000517894 5/31 103 94 8 43 43 0 ADGRB1,missense_variant,p.Tyr386Ser,ENST00000517894,;ADGRB1,missense_variant,p.Tyr386Ser,ENST00000643448,;ADGRB1,missense_variant,p.Tyr386Ser,ENST00000323289,NM_001702.2;ADGRB1,missense_variant,p.Tyr386Ser,ENST00000521208,;ADGRB1,upstream_gene_variant,,ENST00000518820,;,regulatory_region_variant,,ENSR00000231959,; C ENSG00000181790 ENST00000517894 Transcript missense_variant 2051/6241 1157/4755 386/1584 Y/S tAc/tCc COSM4451311 1 1 ADGRB1 HGNC HGNC:943 protein_coding YES CCDS64985.1 ENSP00000430945 O14514 UPI00002109E8 deleterious(0) possibly_damaging(0.894) 5/31 Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,SMART_domains:SM00209,Superfamily_domains:SSF82895 1 MODERATE 1 SNV 5 1 PASS TAC . . 142477213 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-2760 BS_0V76MCTW A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 71 54 12 31 30 1 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 KLHL42 . GRCh38 chr12 27780332 27780332 + Translation_Start_Site SNP T T G novel 7316-2760 BS_0V76MCTW T T c.2T>G p.Met1? p.M1? ENST00000381271 1/3 93 86 6 32 32 0 KLHL42,start_lost,p.Met1?,ENST00000381271,NM_020782.1;KLHL42,upstream_gene_variant,,ENST00000543254,;AC009511.2,intron_variant,,ENST00000545904,;KLHL42,start_lost,p.Met1?,ENST00000539176,;,regulatory_region_variant,,ENSR00000050204,; G ENSG00000087448 ENST00000381271 Transcript start_lost 313/6703 2/1518 1/505 M/R aTg/aGg 1 1 KLHL42 HGNC HGNC:29252 protein_coding YES CCDS31763.1 ENSP00000370671 Q9P2K6 B2RNT7 UPI0000185FB1 NM_020782.1 deleterious_low_confidence(0) benign(0.403) 1/3 hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF54 HIGH 1 SNV 1 PASS ATG . . 27780332 FAM186A . GRCh38 chr12 50353288 50353288 + Missense_Mutation SNP G G T rs1336929421 7316-2760 BS_0V76MCTW G G c.3544C>A p.Pro1182Thr p.P1182T ENST00000327337 4/8 71 58 11 42 40 0 FAM186A,missense_variant,p.Pro1182Thr,ENST00000543111,;FAM186A,missense_variant,p.Pro1182Thr,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; T ENSG00000185958 ENST00000327337 Transcript missense_variant 3544/7127 3544/7056 1182/2351 P/T Cct/Act rs1336929421,COSM940343 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0.047) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 8.101e-06 6.425e-05 50353288 TMBIM4 . GRCh38 chr12 66138156 66138157 + Frame_Shift_Ins INS - - A rs762169222 7316-2760 BS_0V76MCTW - - c.661dup p.Tyr221LeufsTer2 p.Y221Lfs*2 ENST00000286424 8/8 56 44 8 31 30 0 TMBIM4,frameshift_variant,p.Tyr174LeufsTer2,ENST00000358230,NM_016056.3,NM_001282610.1;TMBIM4,frameshift_variant,p.Tyr221LeufsTer2,ENST00000286424,NM_001282606.1;TMBIM4,frameshift_variant,p.Tyr173LeufsTer2,ENST00000613669,;TMBIM4,frameshift_variant,p.Ile159TyrfsTer66,ENST00000398033,;TMBIM4,frameshift_variant,p.Leu162PhefsTer5,ENST00000542724,NM_001282609.1;TMBIM4,5_prime_UTR_variant,,ENST00000544599,;LLPH-DT,downstream_gene_variant,,ENST00000510317,;TMBIM4,3_prime_UTR_variant,,ENST00000545407,;TMBIM4,3_prime_UTR_variant,,ENST00000633367,;TMBIM4,3_prime_UTR_variant,,ENST00000545504,;TMBIM4,non_coding_transcript_exon_variant,,ENST00000538217,;AC078927.1,intron_variant,,ENST00000539652,;TMBIM4,downstream_gene_variant,,ENST00000534930,; A ENSG00000155957 ENST00000286424 Transcript frameshift_variant 672-673/989 661-662/858 221/285 Y/LX tat/tTat rs762169222,TMP_ESP_12_66531937_66531937 1 -1 TMBIM4 HGNC HGNC:24257 protein_coding YES CCDS61187.1 ENSP00000286424 G3XAA5 UPI000013DE45 NM_001282606.1 8/8 Pfam_domain:PF01027,hmmpanther:PTHR23291,hmmpanther:PTHR23291:SF50,Transmembrane_helices:TMhelix,cd10429 0.008626 0.007817 HIGH insertion 5 PASS ATA . . 0.04256 0.03015 0.08522 0.06621 0.04723 0.03542 0.03099 0.05713 0.05533 66138156 NBEA . GRCh38 chr13 34942885 34942885 + Missense_Mutation SNP T T G novel 7316-2760 BS_0V76MCTW T T c.65T>G p.Val22Gly p.V22G ENST00000400445 1/58 77 67 7 45 43 0 NBEA,missense_variant,p.Val22Gly,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Val22Gly,ENST00000310336,;NBEA,missense_variant,p.Val22Gly,ENST00000629018,;NBEA,missense_variant,p.Val22Gly,ENST00000379939,;,regulatory_region_variant,,ENSR00000061168,; G ENSG00000172915 ENST00000400445 Transcript missense_variant 599/11119 65/8841 22/2946 V/G gTc/gGc 1 1 NBEA HGNC HGNC:7648 protein_coding YES CCDS45026.1 ENSP00000383295 Q8NFP9 UPI00004FF92F NM_015678.4 tolerated_low_confidence(0.11) benign(0.012) 1/58 MODERATE 1 SNV 5 1 PASS GTC . . 34942885 STRN3 . GRCh38 chr14 31026082 31026082 + Missense_Mutation SNP T T G novel 7316-2760 BS_0V76MCTW T T c.104A>C p.Asn35Thr p.N35T ENST00000357479 1/18 108 95 13 41 41 0 STRN3,missense_variant,p.Asn35Thr,ENST00000355683,NM_014574.3;STRN3,missense_variant,p.Asn35Thr,ENST00000357479,NM_001083893.1;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.2;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,missense_variant,p.Asn35Thr,ENST00000555358,;,regulatory_region_variant,,ENSR00000067178,; G ENSG00000196792 ENST00000357479 Transcript missense_variant 301/2799 104/2394 35/797 N/T aAc/aCc 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 tolerated_low_confidence(0.88) benign(0) 1/18 hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS GTT . . 31026082 LINC00639 . GRCh38 chr14 38839208 38839208 + Splice_Region SNP G G T novel 7316-2760 BS_0V76MCTW G G n.155-4C>A ENST00000553932 78 50 8 36 26 0 LINC00639,splice_region_variant,,ENST00000553932,;LINC00639,splice_region_variant,,ENST00000554732,;LINC00639,splice_region_variant,,ENST00000556116,;LINC00639,splice_region_variant,,ENST00000557019,;LINC00639,upstream_gene_variant,,ENST00000557440,;AL132994.1,downstream_gene_variant,,ENST00000554098,; T ENSG00000259070 ENST00000553932 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 LINC00639 HGNC HGNC:27502 lincRNA YES 2/6 LOW 1 SNV 2 PASS GGA . . 38839208 YY1 . GRCh38 chr14 100239269 100239269 + Missense_Mutation SNP A A C novel 7316-2760 BS_0V76MCTW A A c.25A>C p.Ile9Leu p.I9L ENST00000262238 1/5 82 71 11 34 34 0 YY1,missense_variant,p.Ile9Leu,ENST00000262238,NM_003403.4;YY1,missense_variant,p.Ile9Leu,ENST00000554371,;YY1,upstream_gene_variant,,ENST00000553625,;YY1,upstream_gene_variant,,ENST00000554804,;AL133523.1,upstream_gene_variant,,ENST00000554537,;,regulatory_region_variant,,ENSR00000073098,; C ENSG00000100811 ENST00000262238 Transcript missense_variant 285/6697 25/1245 9/414 I/L Atc/Ctc 1 1 YY1 HGNC HGNC:12856 protein_coding YES CCDS9957.1 ENSP00000262238 P25490 UPI00001378FC NM_003403.4 tolerated(0.16) benign(0.001) 1/5 PIRSF_domain:PIRSF037113,hmmpanther:PTHR14003,hmmpanther:PTHR14003:SF10 MODERATE 1 SNV 1 1 PASS CAT . . 100239269 NIPA1 . GRCh38 chr15 22786657 22786657 + Translation_Start_Site SNP A A C novel 7316-2760 BS_0V76MCTW A A c.1A>C p.Met1? p.M1? ENST00000337435 1/5 95 78 12 31 29 0 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; C ENSG00000170113 ENST00000337435 Transcript start_lost 26/6567 1/990 1/329 M/L Atg/Ctg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS AAT . . 22786657 INAFM2 . GRCh38 chr15 40324453 40324453 + Missense_Mutation SNP T T G novel 7316-2760 BS_0V76MCTW T T c.398T>G p.Leu133Arg p.L133R ENST00000638170 1/1 93 72 18 34 33 0 INAFM2,missense_variant,p.Leu133Arg,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; G ENSG00000259330 ENST00000638170 Transcript missense_variant 790/3052 398/462 133/153 L/R cTc/cGc 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS CTC . . 40324453 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-2760 BS_0V76MCTW A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 96 79 9 35 34 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 NPIPB11 . GRCh38 chr16 29383062 29383062 + Missense_Mutation SNP A A T novel 7316-2760 BS_0V76MCTW A A c.1870T>A p.Tyr624Asn p.Y624N ENST00000524087 8/8 33 23 5 22 20 0 NPIPB11,missense_variant,p.Tyr624Asn,ENST00000524087,NM_001310137.1;NPIPB11,downstream_gene_variant,,ENST00000614927,;AC025279.3,downstream_gene_variant,,ENST00000622398,; T ENSG00000254206 ENST00000524087 Transcript missense_variant 1945/3653 1870/3486 624/1161 Y/N Tac/Aac 1 -1 NPIPB11 HGNC HGNC:37453 protein_coding YES ENSP00000430853 E5RHQ5 UPI0001E8F094 NM_001310137.1 tolerated_low_confidence(0.16) benign(0.001) 8/8 MODERATE 1 SNV 5 PASS TAT . . 29383062 ACSF3 . GRCh38 chr16 89112086 89112086 + Splice_Region SNP T T C rs76096111 7316-2760 BS_0V76MCTW T T c.823-6T>C ENST00000614302 72 67 5 25 25 0 ACSF3,splice_region_variant,,ENST00000317447,;ACSF3,splice_region_variant,,ENST00000378345,NM_001284316.1;ACSF3,splice_region_variant,,ENST00000406948,;ACSF3,splice_region_variant,,ENST00000537895,;ACSF3,splice_region_variant,,ENST00000538340,;ACSF3,splice_region_variant,,ENST00000540697,;ACSF3,splice_region_variant,,ENST00000543676,;ACSF3,splice_region_variant,,ENST00000544543,;ACSF3,splice_region_variant,,ENST00000614302,NM_001127214.3,NM_001243279.2,NM_174917.4;AC135782.3,downstream_gene_variant,,ENST00000562782,;ACSF3,upstream_gene_variant,,ENST00000562204,;ACSF3,splice_region_variant,,ENST00000542688,; C ENSG00000176715 ENST00000614302 Transcript splice_region_variant,intron_variant rs76096111,COSM1609786 1 1 ACSF3 HGNC HGNC:27288 protein_coding YES CCDS10974.1 ENSP00000479130 Q4G176 UPI00001AF19E NM_001127214.3,NM_001243279.2,NM_174917.4 4/10 benign 0,1 LOW 1 SNV 5 0,1 1 PASS TTC . . 5.824e-06 0.000118 89112086 BAHCC1 . GRCh38 chr17 81457591 81457591 + Splice_Region SNP A A G rs1332849611 7316-2760 BS_0V76MCTW A A c.5133A>G p.Leu1711= p.L1711= ENST00000584436 18/29 87 75 7 37 36 0 BAHCC1,splice_region_variant,p.Leu1711=,ENST00000584436,NM_001291324.1;BAHCC1,splice_region_variant,p.Leu1680=,ENST00000307745,;AC110285.4,downstream_gene_variant,,ENST00000572590,;BAHCC1,splice_region_variant,,ENST00000584330,;BAHCC1,upstream_gene_variant,,ENST00000578541,;BAHCC1,upstream_gene_variant,,ENST00000582709,;,regulatory_region_variant,,ENSR00000099414,; G ENSG00000266074 ENST00000584436 Transcript splice_region_variant,synonymous_variant 5500/10801 5133/7920 1711/2639 L ctA/ctG rs1332849611,COSM6233892 1 1 BAHCC1 HGNC HGNC:29279 protein_coding YES CCDS74173.1 ENSP00000462154 Q9P281 UPI0003EAE637 NM_001291324.1 18/29 hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22 0,1 LOW SNV 5 0,1 PASS TAG . . 81457591 ZNF626 . GRCh38 chr19 20624981 20624981 + Missense_Mutation SNP G G T 7316-2760 BS_0V76MCTW G G c.896C>A p.Thr299Asn p.T299N ENST00000601440 4/4 79 68 7 41 40 0 ZNF626,missense_variant,p.Thr299Asn,ENST00000601440,NM_001076675.2;ZNF626,missense_variant,p.Thr299Asn,ENST00000612591,;ZNF626,downstream_gene_variant,,ENST00000595405,;AC010636.2,intron_variant,,ENST00000595094,; T ENSG00000188171 ENST00000601440 Transcript missense_variant 1043/5963 896/1587 299/528 T/N aCc/aAc COSM1721399 1 -1 ZNF626 HGNC HGNC:30461 protein_coding YES CCDS42535.1 ENSP00000469958 Q68DY1 UPI000035E843 NM_001076675.2 tolerated(0.73) benign(0.029) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF129,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS GGT . . 20624981 SBSN . GRCh38 chr19 35527653 35527653 + Missense_Mutation SNP G G T 7316-2760 BS_0V76MCTW G G c.629C>A p.Ala210Asp p.A210D ENST00000452271 1/4 74 60 7 33 29 0 SBSN,missense_variant,p.Ala210Asp,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; T ENSG00000189001 ENST00000452271 Transcript missense_variant 658/1945 629/1773 210/590 A/D gCc/gAc COSM6290357 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 tolerated(0.33) possibly_damaging(0.804) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS GGC . . 35527653 KIR3DL3 . GRCh38 chr19 54729485 54729485 + Splice_Region SNP T T C rs28637725 7316-2760 BS_0V76MCTW T T c.656-8T>C ENST00000291860 72 50 21 32 30 2 KIR3DL3,splice_region_variant,,ENST00000291860,NM_153443.4;AC245128.1,intron_variant,,ENST00000400864,; C ENSG00000242019 ENST00000291860 Transcript splice_region_variant,intron_variant rs28637725 1 1 KIR3DL3 HGNC HGNC:16312 protein_coding YES CCDS12903.1 ENSP00000291860 A0A0B4J1R5 UPI00005056C3 NM_153443.4 4/7 LOW 1 SNV 1 PASS TTC . . 54729485 KRTAP10-11 . GRCh38 chr21 44647009 44647009 + Missense_Mutation SNP A A C novel 7316-2760 BS_0V76MCTW A A c.551A>C p.Tyr184Ser p.Y184S ENST00000334670 1/1 88 68 14 41 37 1 KRTAP10-11,missense_variant,p.Tyr184Ser,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000243489 ENST00000334670 Transcript missense_variant 596/1237 551/897 184/298 Y/S tAc/tCc 1 1 KRTAP10-11 HGNC HGNC:20528 protein_coding YES CCDS42962.1 ENSP00000334197 P60412 UPI000040FC94 NM_198692.2 tolerated(0.12) benign(0) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF125 MODERATE SNV PASS TAC . . 44647009 COL6A1 . GRCh38 chr21 45994236 45994236 + Splice_Region SNP A A C novel 7316-2760 BS_0V76MCTW A A c.1398+7A>C ENST00000361866 97 75 17 29 29 0 COL6A1,splice_region_variant,,ENST00000361866,NM_001848.2;COL6A1,splice_region_variant,,ENST00000612273,; C ENSG00000142156 ENST00000361866 Transcript splice_region_variant,intron_variant 1 1 COL6A1 HGNC HGNC:2211 protein_coding YES CCDS13727.1 ENSP00000355180 P12109 UPI000019B179 NM_001848.2 20/34 LOW 1 SNV 1 1 PASS AAG . . 45994236 TUBGCP6 . GRCh38 chr22 50220963 50220963 + Missense_Mutation SNP A A C 7316-2760 BS_0V76MCTW A A c.3396T>G p.Asn1132Lys p.N1132K ENST00000248846 16/25 103 70 12 46 43 0 TUBGCP6,missense_variant,p.Asn1132Lys,ENST00000439308,;TUBGCP6,missense_variant,p.Asn1132Lys,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; C ENSG00000128159 ENST00000248846 Transcript missense_variant 3501/5612 3396/5460 1132/1819 N/K aaT/aaG COSM6243213 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 deleterious(0.05) possibly_damaging(0.666) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 1 MODERATE 1 SNV 1 1 1 PASS TAT . . 50220963 SSX3 . GRCh38 chrX 48354750 48354751 + Splice_Region INS - - A rs782574096 7316-2760 BS_0V76MCTW - - c.70-5dup ENST00000298396 38 26 9 13 11 0 SSX3,splice_region_variant,,ENST00000298396,NM_021014.3;SSX3,splice_region_variant,,ENST00000376893,;SSX3,splice_region_variant,,ENST00000612497,;SSX3,upstream_gene_variant,,ENST00000376895,;AL606490.1,upstream_gene_variant,,ENST00000452266,; A ENSG00000165584 ENST00000298396 Transcript splice_region_variant,intron_variant rs782574096 1 -1 SSX3 HGNC HGNC:11337 protein_coding YES CCDS14291.1 ENSP00000298396 Q99909 UPI000013E4CD NM_021014.3 2/7 0.0074 LOW 1 insertion 1 PASS ACA . . 0.0276 0.02889 0.02071 0.02339 0.03388 0.05425 0.02338 0.01782 0.0305 48354750 TEX13C . GRCh38 chrX 125321748 125321748 + Missense_Mutation SNP A A C rs1414330030 7316-2760 BS_0V76MCTW A A c.1629A>C p.Arg543Ser p.R543S ENST00000632600 1/1 36 27 7 13 13 0 TEX13C,missense_variant,p.Arg543Ser,ENST00000632600,NM_001195272.1; C ENSG00000282815 ENST00000632600 Transcript missense_variant 1629/5095 1629/2982 543/993 R/S agA/agC rs1414330030 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.47) benign(0.412) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite MODERATE 1 SNV PASS GAA . . 125321748 NAA10 . GRCh38 chrX 153934891 153934891 + Missense_Mutation SNP T T G novel 7316-2760 BS_0V76MCTW T T c.14A>C p.Asn5Thr p.N5T ENST00000464845 1/8 64 54 9 19 18 0 NAA10,missense_variant,p.Asn5Thr,ENST00000464845,NM_003491.3,NM_001256120.1;NAA10,missense_variant,p.Asn5Thr,ENST00000370015,;NAA10,missense_variant,p.Asn5Thr,ENST00000393712,;NAA10,missense_variant,p.Asn5Thr,ENST00000370009,NM_001256119.1;NAA10,missense_variant,p.Asn5Thr,ENST00000432089,;NAA10,missense_variant,p.Asn5Thr,ENST00000370011,;RENBP,downstream_gene_variant,,ENST00000369997,;RENBP,downstream_gene_variant,,ENST00000393700,NM_002910.5;RENBP,downstream_gene_variant,,ENST00000451114,;NAA10,non_coding_transcript_exon_variant,,ENST00000393710,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494813,;NAA10,non_coding_transcript_exon_variant,,ENST00000466877,;NAA10,non_coding_transcript_exon_variant,,ENST00000477750,;NAA10,non_coding_transcript_exon_variant,,ENST00000478177,;NAA10,non_coding_transcript_exon_variant,,ENST00000488481,;RENBP,downstream_gene_variant,,ENST00000423624,;RENBP,downstream_gene_variant,,ENST00000442361,;RENBP,downstream_gene_variant,,ENST00000457282,;NAA10,upstream_gene_variant,,ENST00000460996,;NAA10,upstream_gene_variant,,ENST00000467451,;NAA10,upstream_gene_variant,,ENST00000477882,;NAA10,upstream_gene_variant,,ENST00000482485,;NAA10,upstream_gene_variant,,ENST00000484950,;,regulatory_region_variant,,ENSR00000249616,; G ENSG00000102030 ENST00000464845 Transcript missense_variant 333/1772 14/708 5/235 N/T aAt/aCt 1 -1 NAA10 HGNC HGNC:18704 protein_coding YES CCDS14737.1 ENSP00000417763 P41227 UPI0000125DBA NM_003491.3,NM_001256120.1 tolerated(0.41) benign(0.007) 1/8 PROSITE_profiles:PS51186,hmmpanther:PTHR23091:SF282,hmmpanther:PTHR23091,Gene3D:3.40.630.30,Superfamily_domains:SSF55729 MODERATE 1 SNV 1 1 PASS ATT . . 153934891 RPL10 . GRCh38 chrX 154400837 154400837 + Missense_Mutation SNP C C T rs979369776 7316-2760 BS_0V76MCTW C C c.628C>T p.Arg210Trp p.R210W ENST00000424325 7/7 56 46 10 17 17 0 RPL10,missense_variant,p.Arg210Trp,ENST00000424325,NM_001303625.1,NM_006013.4;RPL10,missense_variant,p.Arg210Trp,ENST00000344746,NM_001303626.1,NM_001303624.1;RPL10,missense_variant,p.Arg174Trp,ENST00000618723,NM_001256580.2;RPL10,missense_variant,p.Arg210Trp,ENST00000369817,;RPL10,missense_variant,p.Arg159Trp,ENST00000406022,;RPL10,synonymous_variant,p.Gly155=,ENST00000458500,NM_001256577.2;RPL10,intron_variant,,ENST00000427682,;RPL10,intron_variant,,ENST00000428169,;RPL10,intron_variant,,ENST00000449494,;RPL10,intron_variant,,ENST00000451365,;DNASE1L1,downstream_gene_variant,,ENST00000014935,;DNASE1L1,downstream_gene_variant,,ENST00000309585,NM_001009933.2;DNASE1L1,downstream_gene_variant,,ENST00000369807,NM_001303620.1;DNASE1L1,downstream_gene_variant,,ENST00000369808,NM_006730.3;DNASE1L1,downstream_gene_variant,,ENST00000369809,NM_001009932.2;DNASE1L1,downstream_gene_variant,,ENST00000393638,NM_001009934.2;DNASE1L1,downstream_gene_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000424626,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000436473,;DNASE1L1,downstream_gene_variant,,ENST00000447892,;DNASE1L1,downstream_gene_variant,,ENST00000451865,;SNORA70,downstream_gene_variant,,ENST00000384436,;AC245140.2,upstream_gene_variant,,ENST00000624054,;RPL10,downstream_gene_variant,,ENST00000479366,;RPL10,non_coding_transcript_exon_variant,,ENST00000482732,;RPL10,non_coding_transcript_exon_variant,,ENST00000492572,;RPL10,non_coding_transcript_exon_variant,,ENST00000489200,;RPL10,non_coding_transcript_exon_variant,,ENST00000491035,;RPL10,non_coding_transcript_exon_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000485196,;DNASE1L1,downstream_gene_variant,,ENST00000497242,; T ENSG00000147403 ENST00000424325 Transcript missense_variant 816/2318 628/645 210/214 R/W Cgg/Tgg rs979369776,COSM5793483 1 1 RPL10 HGNC HGNC:10298 protein_coding YES CCDS14746.1 ENSP00000413436 P27635 X5D2T3 UPI0000144CE2 NM_001303625.1,NM_006013.4 tolerated(0.31) benign(0) 7/7 hmmpanther:PTHR11726,hmmpanther:PTHR11726:SF11 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 154400837 SLC6A9 . GRCh38 chr1 44031307 44031307 + Splice_Region SNP A A C novel 7316-324 BS_4T617TSG A A c.-87T>G ENST00000372310 1/14 73 60 10 38 37 1 SLC6A9,splice_region_variant,,ENST00000372310,NM_001024845.2,NM_001328629.1;SLC6A9,splice_region_variant,,ENST00000372306,;SLC6A9,splice_region_variant,,ENST00000475075,;SLC6A9,splice_region_variant,,ENST00000466926,;AL139220.2,intron_variant,,ENST00000623351,;AL139220.2,intron_variant,,ENST00000624869,;AL139220.2,upstream_gene_variant,,ENST00000607988,;SLC6A9,splice_region_variant,,ENST00000492434,;SLC6A9,splice_region_variant,,ENST00000489764,;,regulatory_region_variant,,ENSR00000005689,; C ENSG00000196517 ENST00000372310 Transcript splice_region_variant,5_prime_UTR_variant 80/3130 1 -1 SLC6A9 HGNC HGNC:11056 protein_coding CCDS30695.1 ENSP00000361384 P48067 UPI0000204F05 NM_001024845.2,NM_001328629.1 1/14 LOW SNV 5 1 PASS CAT . . 44031307 EMX1 . GRCh38 chr2 72918147 72918147 + Missense_Mutation SNP T T G novel 7316-324 BS_4T617TSG T T c.295T>G p.Phe99Val p.F99V ENST00000258106 1/3 57 50 6 35 34 0 EMX1,missense_variant,p.Phe99Val,ENST00000258106,NM_004097.2;EMX1,intron_variant,,ENST00000394111,;EMX1,upstream_gene_variant,,ENST00000473732,;,regulatory_region_variant,,ENSR00000118989,; G ENSG00000135638 ENST00000258106 Transcript missense_variant 673/2188 295/873 99/290 F/V Ttc/Gtc 1 1 EMX1 HGNC HGNC:3340 protein_coding YES CCDS1921.2 ENSP00000258106 Q04741 UPI0000D47CF7 NM_004097.2 tolerated(0.11) benign(0.341) 1/3 hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF26,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTT . . 72918147 FAM178B . GRCh38 chr2 96893940 96893940 + Missense_Mutation SNP C C T rs967131811 7316-324 BS_4T617TSG C C c.1762G>A p.Glu588Lys p.E588K ENST00000490605 14/17 77 45 32 42 41 0 FAM178B,missense_variant,p.Glu588Lys,ENST00000490605,NM_001122646.2;FAM178B,missense_variant,p.Glu28Lys,ENST00000393526,NM_016490.4,NM_001172667.1;FAM178B,non_coding_transcript_exon_variant,,ENST00000470789,;FAM178B,non_coding_transcript_exon_variant,,ENST00000494172,; T ENSG00000168754 ENST00000490605 Transcript missense_variant 2041/2710 1762/2040 588/679 E/K Gag/Aag rs967131811,COSM5397625,COSM5397624 1 -1 FAM178B HGNC HGNC:28036 protein_coding YES CCDS46366.2 ENSP00000429896 Q8IXR5 UPI0001C53D28 NM_001122646.2 tolerated(0.1) benign(0.013) 14/17 hmmpanther:PTHR16046,hmmpanther:PTHR16046:SF11 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TCG . . 1.225e-05 2.702e-05 96893940 TTN . GRCh38 chr2 178652698 178652698 + Missense_Mutation SNP C C A novel 7316-324 BS_4T617TSG C C c.38998G>T p.Val13000Leu p.V13000L ENST00000589042 201/363 84 72 5 48 46 0 TTN,missense_variant,p.Val13000Leu,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; A ENSG00000155657 ENST00000589042 Transcript missense_variant 39223/109224 38998/107976 13000/35991 V/L Gtg/Ttg 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 unknown(0) 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ACT . . 178652698 MUC4 . GRCh38 chr3 195786418 195786418 + Missense_Mutation SNP A A T novel 7316-324 BS_4T617TSG A A c.5162T>A p.Val1721Glu p.V1721E ENST00000463781 2/25 83 54 7 56 51 0 MUC4,missense_variant,p.Val1721Glu,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Val1721Glu,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Val1721Glu,ENST00000478156,;MUC4,missense_variant,p.Val1721Glu,ENST00000466475,;MUC4,missense_variant,p.Val1721Glu,ENST00000477756,;MUC4,missense_variant,p.Val1721Glu,ENST00000477086,;MUC4,missense_variant,p.Val1721Glu,ENST00000480843,;MUC4,missense_variant,p.Val1721Glu,ENST00000462323,;MUC4,missense_variant,p.Val1721Glu,ENST00000470451,;MUC4,missense_variant,p.Val1721Glu,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 5622/17110 5162/16239 1721/5412 V/E gTa/gAa 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.03) benign(0.212) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS TAC . . 195786418 TBC1D1 . GRCh38 chr4 38014734 38014734 + Missense_Mutation SNP A A C novel 7316-324 BS_4T617TSG A A c.643A>C p.Asn215His p.N215H ENST00000261439 3/20 39 28 7 41 41 0 TBC1D1,missense_variant,p.Asn215His,ENST00000261439,NM_015173.3;TBC1D1,missense_variant,p.Asn215His,ENST00000508802,NM_001253912.1;TBC1D1,missense_variant,p.Asn86His,ENST00000446803,;TBC1D1,intron_variant,,ENST00000615497,;TBC1D1,upstream_gene_variant,,ENST00000491553,; C ENSG00000065882 ENST00000261439 Transcript missense_variant 998/5700 643/3507 215/1168 N/H Aac/Cac 1 1 TBC1D1 HGNC HGNC:11578 protein_coding YES CCDS33972.1 ENSP00000261439 Q86TI0 B9A6J6 UPI0000367235 NM_015173.3 tolerated(0.53) benign(0.012) 3/20 mobidb-lite,cd01269,Gene3D:2.30.29.30,SMART_domains:SM00462 MODERATE 1 SNV 1 PASS CAA . . 38014734 LRBA . GRCh38 chr4 150849456 150849456 + Missense_Mutation SNP A A C novel 7316-324 BS_4T617TSG A A c.4124T>G p.Ile1375Arg p.I1375R ENST00000357115 25/58 79 69 9 46 46 0 LRBA,missense_variant,p.Ile1375Arg,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Ile1375Arg,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Ile1375Arg,ENST00000507224,;LRBA,missense_variant,p.Ile28Arg,ENST00000509835,;LRBA,upstream_gene_variant,,ENST00000502839,; C ENSG00000198589 ENST00000357115 Transcript missense_variant 4368/9899 4124/8592 1375/2863 I/R aTa/aGa 1 -1 LRBA HGNC HGNC:1742 protein_coding YES CCDS3773.1 ENSP00000349629 P50851 UPI000013E35C NM_006726.4 deleterious(0) probably_damaging(0.996) 25/58 hmmpanther:PTHR13743:SF64,hmmpanther:PTHR13743 MODERATE 1 SNV 1 1 PASS TAT . . 150849456 COL23A1 . GRCh38 chr5 178248229 178248229 + Missense_Mutation SNP T T G novel 7316-324 BS_4T617TSG T T c.1175A>C p.Lys392Thr p.K392T ENST00000390654 20/29 68 51 11 24 24 0 COL23A1,missense_variant,p.Lys392Thr,ENST00000390654,NM_173465.3;COL23A1,missense_variant,p.Lys245Thr,ENST00000407622,; G ENSG00000050767 ENST00000390654 Transcript missense_variant 1533/3061 1175/1623 392/540 K/T aAg/aCg 1 -1 COL23A1 HGNC HGNC:22990 protein_coding YES CCDS4436.1 ENSP00000375069 Q86Y22 UPI0000062274 NM_173465.3 deleterious(0.03) possibly_damaging(0.565) 20/29 Gene3D:2.160.20.50,Pfam_domain:PF01391,hmmpanther:PTHR45108,mobidb-lite MODERATE 1 SNV 5 PASS CTT . . 178248229 SRRT . GRCh38 chr7 100875326 100875326 + Splice_Region SNP A A C novel 7316-324 BS_4T617TSG A A c.-21A>C ENST00000611405 1/20 73 45 9 27 27 0 SRRT,splice_region_variant,,ENST00000614484,NM_001128852.1;SRRT,splice_region_variant,,ENST00000618262,NM_001128853.1;SRRT,splice_region_variant,,ENST00000611405,NM_015908.5;SRRT,splice_region_variant,,ENST00000618411,NM_001128854.1;TRIP6,downstream_gene_variant,,ENST00000200457,NM_003302.2;TRIP6,downstream_gene_variant,,ENST00000429658,;SRRT,upstream_gene_variant,,ENST00000431645,;TRIP6,downstream_gene_variant,,ENST00000619988,;SRRT,splice_region_variant,,ENST00000620394,;SRRT,splice_region_variant,,ENST00000614370,;TRIP6,downstream_gene_variant,,ENST00000417475,;TRIP6,downstream_gene_variant,,ENST00000437505,;TRIP6,downstream_gene_variant,,ENST00000463125,;TRIP6,downstream_gene_variant,,ENST00000476870,;TRIP6,downstream_gene_variant,,ENST00000488670,;,regulatory_region_variant,,ENSR00000215866,; C ENSG00000087087 ENST00000611405 Transcript splice_region_variant,5_prime_UTR_variant 139/2905 1 1 SRRT HGNC HGNC:24101 protein_coding YES CCDS34709.1 ENSP00000480421 Q9BXP5 UPI0000126098 NM_015908.5 1/20 LOW 1 SNV 1 PASS CAA . . 100875326 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-324 BS_4T617TSG A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 71 43 27 35 35 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 RB1CC1 . GRCh38 chr8 52630531 52630531 + Splice_Region DEL A A - rs770160515 7316-324 BS_4T617TSG A A c.4441-3del ENST00000025008 49 29 9 48 39 0 RB1CC1,splice_region_variant,,ENST00000025008,NM_014781.4;RB1CC1,splice_region_variant,,ENST00000435644,NM_001083617.1;RB1CC1,splice_region_variant,,ENST00000519912,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,splice_region_variant,,ENST00000522957,; - ENSG00000023287 ENST00000025008 Transcript splice_region_variant,intron_variant rs770160515,COSM1624063 1 -1 RB1CC1 HGNC HGNC:15574 protein_coding YES CCDS34892.1 ENSP00000025008 Q8TDY2 UPI0000DBEF23 NM_014781.4 20/23 0,1 LOW 1 deletion 1 0,1 1 PASS CTAA . . 0.3331 0.3348 0.3453 0.3548 0.3244 0.3183 0.3222 0.3396 0.3668 52630530 TIGD5 . GRCh38 chr8 143598586 143598586 + Missense_Mutation SNP A A C novel 7316-324 BS_4T617TSG A A c.683A>C p.Glu228Ala p.E228A ENST00000504548 1/1 50 38 5 28 28 0 TIGD5,missense_variant,p.Glu228Ala,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; C ENSG00000179886 ENST00000504548 Transcript missense_variant 752/5390 683/1929 228/642 E/A gAg/gCg 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 tolerated(0.2) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45428 MODERATE SNV PASS GAG . . 143598586 ZNF517 . GRCh38 chr8 144808165 144808165 + Missense_Mutation SNP A A T novel 7316-324 BS_4T617TSG A A c.1249A>T p.Ile417Phe p.I417F ENST00000359971 5/5 98 87 6 37 34 0 ZNF517,missense_variant,p.Ile417Phe,ENST00000359971,NM_213605.2,NM_001317936.1;ZNF517,missense_variant,p.Ile417Phe,ENST00000531720,;ZNF517,missense_variant,p.Ile384Phe,ENST00000529429,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,downstream_gene_variant,,ENST00000528012,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,missense_variant,p.Ile417Phe,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,; T ENSG00000197363 ENST00000359971 Transcript missense_variant 1356/2335 1249/1479 417/492 I/F Atc/Ttc 1 1 ZNF517 HGNC HGNC:27984 protein_coding YES CCDS6434.1 ENSP00000353058 Q6ZMY9 UPI000045770F NM_213605.2,NM_001317936.1 deleterious(0.01) possibly_damaging(0.761) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.28.30,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS GAT . . 144808165 DPH7 . GRCh38 chr9 137578629 137578629 + Missense_Mutation SNP T T G novel 7316-324 BS_4T617TSG T T c.149A>C p.Asn50Thr p.N50T ENST00000277540 1/9 73 51 11 39 38 0 DPH7,missense_variant,p.Asn50Thr,ENST00000277540,NM_138778.3;ZMYND19,downstream_gene_variant,,ENST00000298585,NM_138462.2;DPH7,non_coding_transcript_exon_variant,,ENST00000479650,;DPH7,non_coding_transcript_exon_variant,,ENST00000472113,;DPH7,non_coding_transcript_exon_variant,,ENST00000491359,;DPH7,non_coding_transcript_exon_variant,,ENST00000476303,;DPH7,non_coding_transcript_exon_variant,,ENST00000475100,;DPH7,non_coding_transcript_exon_variant,,ENST00000467768,;DPH7,non_coding_transcript_exon_variant,,ENST00000460572,;DPH7,upstream_gene_variant,,ENST00000470855,;DPH7,upstream_gene_variant,,ENST00000477690,;DPH7,upstream_gene_variant,,ENST00000481839,;DPH7,upstream_gene_variant,,ENST00000485189,;,regulatory_region_variant,,ENSR00000243232,; G ENSG00000148399 ENST00000277540 Transcript missense_variant 307/1847 149/1359 50/452 N/T aAc/aCc 1 -1 DPH7 HGNC HGNC:25199 protein_coding YES CCDS7047.1 ENSP00000277540 Q9BTV6 UPI000006F34E NM_138778.3 tolerated(0.43) benign(0) 1/9 hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF17 MODERATE 1 SNV 1 PASS GTT . . 137578629 MUC5AC . GRCh38 chr11 1191424 1191424 + Missense_Mutation SNP C C A novel 7316-324 BS_4T617TSG C C c.13279C>A p.Pro4427Thr p.P4427T ENST00000621226 31/49 49 27 7 31 30 0 MUC5AC,missense_variant,p.Pro4427Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; A ENSG00000215182 ENST00000621226 Transcript missense_variant 13326/17448 13279/16965 4427/5654 P/T Cct/Act 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.27) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CCC . . 1191424 AHNAK . GRCh38 chr11 62528626 62528626 + Missense_Mutation SNP A A T 7316-324 BS_4T617TSG A A c.5791T>A p.Leu1931Met p.L1931M ENST00000378024 5/5 41 27 5 42 41 0 AHNAK,missense_variant,p.Leu1931Met,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 6066/18787 5791/17673 1931/5890 L/M Ttg/Atg COSM5764175,COSM5764174 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 deleterious(0.04) probably_damaging(0.911) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 1,1 MODERATE 1 SNV 2 1,1 PASS AAG . . 62528626 SCN8A . GRCh38 chr12 51745899 51745899 + Splice_Region SNP A A T rs765240974 7316-324 BS_4T617TSG A A c.1999-4A>T ENST00000354534 65 56 6 46 46 0 SCN8A,splice_region_variant,,ENST00000354534,NM_014191.3,NM_001330260.1;SCN8A,splice_region_variant,,ENST00000355133,;SCN8A,splice_region_variant,,ENST00000545061,NM_001177984.2;SCN8A,splice_region_variant,,ENST00000551216,;SCN8A,splice_region_variant,,ENST00000599343,;SCN8A,splice_region_variant,,ENST00000627620,;SCN8A,splice_region_variant,,ENST00000550891,;SCN8A,upstream_gene_variant,,ENST00000636945,; T ENSG00000196876 ENST00000354534 Transcript splice_region_variant,intron_variant rs765240974,COSM2009764,COSM2009763 1 1 SCN8A HGNC HGNC:10596 protein_coding YES CCDS44891.1 ENSP00000346534 Q9UQD0 UPI000006FD85 NM_014191.3,NM_001330260.1 12/26 likely_benign 0,1,1 LOW 1 SNV 1 1,1,1 1 PASS TAA . . 0.002358 0.002831 0.003297 0.001783 0.003051 0.001242 0.001893 0.005051 0.00359 51745899 MTUS2 . GRCh38 chr13 29100974 29100974 + Splice_Region SNP A A T rs879037300 7316-324 BS_4T617TSG A A c.2674+4A>T ENST00000612955 54 36 7 46 44 0 MTUS2,splice_region_variant,,ENST00000612955,NM_001033602.2;MTUS2,splice_region_variant,,ENST00000255289,; T ENSG00000132938 ENST00000612955 Transcript splice_region_variant,intron_variant rs879037300 1 1 MTUS2 HGNC HGNC:20595 protein_coding YES CCDS45022.1 ENSP00000483729 J3KQA9 UPI0000F734AC NM_001033602.2 5/15 LOW 1 SNV 5 PASS AAG . . 29100974 MAP3K9 . GRCh38 chr14 70809057 70809059 + In_Frame_Del DEL CCT CCT - rs397840789,rs3832971 7316-324 BS_4T617TSG CCT CCT c.113_115del p.Glu38del p.E38del ENST00000555993 1/13 58 44 5 33 27 0 MAP3K9,inframe_deletion,p.Glu38del,ENST00000554752,NM_001284230.1;MAP3K9,inframe_deletion,p.Glu38del,ENST00000555993,NM_033141.3;MAP3K9,inframe_deletion,p.Glu38del,ENST00000381250,;AC004816.1,upstream_gene_variant,,ENST00000554032,;AC004816.1,upstream_gene_variant,,ENST00000557691,;,regulatory_region_variant,,ENSR00000070345,; - ENSG00000006432 ENST00000555993 Transcript inframe_deletion 476-478/4449 113-115/3357 38-39/1118 EA/A gAGGcg/gcg rs397840789,rs3832971,COSM111673 1 -1 MAP3K9 HGNC HGNC:6861 protein_coding YES CCDS32112.1 ENSP00000451263 P80192 UPI00001D7B5C NM_033141.3 1/13 Gene3D:2.30.30.40,PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF2,mobidb-lite,Low_complexity_(Seg):seg 0.1339 0.1397 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS CGCCTC . . 0.2322 0.1902 0.2899 0.186 0.2947 0.125 0.1943 0.25 0.2716 70809056 TLCD1 . GRCh38 chr17 28725931 28725931 + Missense_Mutation SNP A A C novel 7316-324 BS_4T617TSG A A c.167T>G p.Ile56Ser p.I56S ENST00000292090 1/4 78 67 10 36 34 0 TLCD1,missense_variant,p.Ile56Ser,ENST00000292090,NM_138463.3;NEK8,5_prime_UTR_variant,,ENST00000579060,;NEK8,5_prime_UTR_variant,,ENST00000579671,;TLCD1,intron_variant,,ENST00000394933,NM_001160407.1;TLCD1,intron_variant,,ENST00000580518,;NEK8,upstream_gene_variant,,ENST00000268766,NM_178170.2;RPL23A,downstream_gene_variant,,ENST00000355731,;RPL23A,downstream_gene_variant,,ENST00000394935,;RPL23A,downstream_gene_variant,,ENST00000394938,;RPL23A,downstream_gene_variant,,ENST00000422514,NM_000984.5;RPL23A,downstream_gene_variant,,ENST00000472628,;RPL23A,downstream_gene_variant,,ENST00000496182,;RPL23A,downstream_gene_variant,,ENST00000578181,;TLCD1,upstream_gene_variant,,ENST00000581236,;SNORD4B,downstream_gene_variant,,ENST00000459083,;SNORD4A,downstream_gene_variant,,ENST00000459174,;SNORD42A,downstream_gene_variant,,ENST00000459584,;AC010761.1,upstream_gene_variant,,ENST00000582718,;AC010761.6,upstream_gene_variant,,ENST00000587898,;NEK8,upstream_gene_variant,,ENST00000593261,;NEK8,non_coding_transcript_exon_variant,,ENST00000584342,;NEK8,upstream_gene_variant,,ENST00000543014,;RPL23A,downstream_gene_variant,,ENST00000580755,;NEK8,upstream_gene_variant,,ENST00000581000,;RPL23A,downstream_gene_variant,,ENST00000582736,;,regulatory_region_variant,,ENSR00000092758,; C ENSG00000160606 ENST00000292090 Transcript missense_variant 278/1017 167/744 56/247 I/S aTt/aGt 1 -1 TLCD1 HGNC HGNC:25177 protein_coding YES CCDS11242.1 ENSP00000292090 Q96CP7 UPI000006DF3D NM_138463.3 tolerated(0.05) possibly_damaging(0.76) 1/4 Pfam_domain:PF03798,PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF5,SMART_domains:SM00724,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS AAT . . 28725931 ANO8 . GRCh38 chr19 17324878 17324878 + Missense_Mutation SNP A A C novel 7316-324 BS_4T617TSG A A c.3170T>G p.Phe1057Cys p.F1057C ENST00000159087 17/18 68 58 7 31 31 0 ANO8,missense_variant,p.Phe1057Cys,ENST00000159087,NM_020959.2;DDA1,downstream_gene_variant,,ENST00000359866,NM_024050.5;ANO8,downstream_gene_variant,,ENST00000630631,;ANO8,3_prime_UTR_variant,,ENST00000597643,;DDA1,downstream_gene_variant,,ENST00000593466,;DDA1,downstream_gene_variant,,ENST00000596582,;,regulatory_region_variant,,ENSR00000107879,; C ENSG00000074855 ENST00000159087 Transcript missense_variant 3329/4152 3170/3699 1057/1232 F/C tTt/tGt 1 -1 ANO8 HGNC HGNC:29329 protein_coding YES CCDS32949.1 ENSP00000159087 Q9HCE9 UPI00001C200F NM_020959.2 deleterious_low_confidence(0) possibly_damaging(0.839) 17/18 hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF33,mobidb-lite MODERATE 1 SNV 1 PASS AAA . . 17324878 ELL . GRCh38 chr19 18465873 18465873 + Missense_Mutation SNP A A C novel 7316-324 BS_4T617TSG A A c.229T>G p.Phe77Val p.F77V ENST00000262809 3/12 83 70 8 38 36 0 ELL,missense_variant,p.Phe77Val,ENST00000262809,NM_006532.3;ELL,5_prime_UTR_variant,,ENST00000596124,;ELL,3_prime_UTR_variant,,ENST00000594635,; C ENSG00000105656 ENST00000262809 Transcript missense_variant 301/4027 229/1866 77/621 F/V Ttc/Gtc 1 -1 ELL HGNC HGNC:23114 protein_coding YES CCDS12380.1 ENSP00000262809 P55199 UPI0000062324 NM_006532.3 deleterious(0) probably_damaging(0.998) 3/12 Pfam_domain:PF10390,hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF9 MODERATE 1 SNV 1 1 PASS AAC . . 18465873 ZNF90 . GRCh38 chr19 20119155 20119155 + Missense_Mutation SNP C C A rs186928119 7316-324 BS_4T617TSG C C c.1601C>A p.Ala534Glu p.A534E ENST00000418063 4/4 54 45 9 44 41 1 ZNF90,missense_variant,p.Ala534Glu,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; A ENSG00000213988 ENST00000418063 Transcript missense_variant 1713/2310 1601/1806 534/601 A/E gCg/gAg rs186928119,COSM5855193,COSM148544,COSM1391910,COSM1391909 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(1) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,Gene3D:2.30.30.380,Superfamily_domains:SSF57667 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS GCG . . 20119155 ZNF430 . GRCh38 chr19 21057737 21057737 + Missense_Mutation SNP G G A rs539827140 7316-324 BS_4T617TSG G G c.1429G>A p.Val477Ile p.V477I ENST00000261560 5/5 58 44 5 70 64 4 ZNF430,missense_variant,p.Val477Ile,ENST00000261560,NM_001172671.1,NM_025189.3;ZNF430,upstream_gene_variant,,ENST00000597922,;ZNF430,downstream_gene_variant,,ENST00000599548,; A ENSG00000118620 ENST00000261560 Transcript missense_variant 1610/3923 1429/1713 477/570 V/I Gta/Ata rs539827140,COSM349536 1 1 ZNF430 HGNC HGNC:20808 protein_coding YES CCDS32978.1 ENSP00000261560 Q9H8G1 UPI000020389E NM_001172671.1,NM_025189.3 tolerated(0.2) benign(0.001) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF131,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0004 0.0008 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS GGT . . 4.617e-06 7.8e-05 21057737 ZNF708 . GRCh38 chr19 21293717 21293717 + Nonsense_Mutation SNP T T A 7316-324 BS_4T617TSG T T c.1249A>T p.Lys417Ter p.K417* ENST00000356929 4/4 75 62 7 50 49 0 ZNF708,stop_gained,p.Lys417Ter,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; A ENSG00000182141 ENST00000356929 Transcript stop_gained 1447/4004 1249/1692 417/563 K/* Aag/Tag COSM1293741 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 1 HIGH 1 SNV 2 1 PASS TTT . . 21293717 ZNF850 . GRCh38 chr19 36749746 36749746 + Missense_Mutation SNP C C A rs879184229 7316-324 BS_4T617TSG C C c.1294G>T p.Ala432Ser p.A432S ENST00000591344 5/5 67 57 9 45 44 1 ZNF850,missense_variant,p.Ala432Ser,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Ala400Ser,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; A ENSG00000267041 ENST00000591344 Transcript missense_variant 1453/7714 1294/3273 432/1090 A/S Gct/Tct rs879184229 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 tolerated(0.47) benign(0.115) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GCA . . 36749746 ZNF816 . GRCh38 chr19 52950222 52950222 + Missense_Mutation SNP A A T rs527656215 7316-324 BS_4T617TSG A A c.1553T>A p.Phe518Tyr p.F518Y ENST00000357666 5/5 72 62 7 39 37 0 ZNF816,missense_variant,p.Phe518Tyr,ENST00000357666,NM_001031665.2;ZNF816,missense_variant,p.Phe518Tyr,ENST00000444460,NM_001202456.1,NM_001202457.1;ZNF816-ZNF321P,intron_variant,,ENST00000391777,NM_001202473.1;AC010487.3,intron_variant,,ENST00000634278,;ZNF816,downstream_gene_variant,,ENST00000270457,;ZNF816,downstream_gene_variant,,ENST00000332302,;ZNF816,downstream_gene_variant,,ENST00000391786,;ZNF816,downstream_gene_variant,,ENST00000438970,;ZNF816,downstream_gene_variant,,ENST00000457013,;ZNF816,downstream_gene_variant,,ENST00000535506,; T ENSG00000180257 ENST00000357666 Transcript missense_variant 1854/2697 1553/1956 518/651 F/Y tTc/tAc rs527656215 1 -1 ZNF816 HGNC HGNC:26995 protein_coding YES CCDS33096.1 ENSP00000350295 Q0VGE8 A0A024R4J0 UPI0000251D78 NM_001031665.2 deleterious(0.04) benign(0.427) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF236,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0004 0.002 MODERATE 1 SNV 1 PASS GAA . . 1.625e-05 0.000232 52950222 ZNF816 . GRCh38 chr19 52950227 52950227 + Missense_Mutation SNP T T A rs552579690 7316-324 BS_4T617TSG T T c.1548A>T p.Lys516Asn p.K516N ENST00000357666 5/5 72 62 7 39 37 0 ZNF816,missense_variant,p.Lys516Asn,ENST00000357666,NM_001031665.2;ZNF816,missense_variant,p.Lys516Asn,ENST00000444460,NM_001202456.1,NM_001202457.1;ZNF816-ZNF321P,intron_variant,,ENST00000391777,NM_001202473.1;AC010487.3,intron_variant,,ENST00000634278,;ZNF816,downstream_gene_variant,,ENST00000270457,;ZNF816,downstream_gene_variant,,ENST00000332302,;ZNF816,downstream_gene_variant,,ENST00000391786,;ZNF816,downstream_gene_variant,,ENST00000438970,;ZNF816,downstream_gene_variant,,ENST00000457013,;ZNF816,downstream_gene_variant,,ENST00000535506,; A ENSG00000180257 ENST00000357666 Transcript missense_variant 1849/2697 1548/1956 516/651 K/N aaA/aaT rs552579690 1 -1 ZNF816 HGNC HGNC:26995 protein_coding YES CCDS33096.1 ENSP00000350295 Q0VGE8 A0A024R4J0 UPI0000251D78 NM_001031665.2 deleterious(0.02) possibly_damaging(0.89) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF236,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0004 0.002 MODERATE 1 SNV 1 PASS CTT . . 1.625e-05 0.0002319 52950227 ZNF761 . GRCh38 chr19 53455883 53455883 + Missense_Mutation SNP G G T rs779549000 7316-324 BS_4T617TSG G G c.1376G>T p.Arg459Leu p.R459L ENST00000432094 5/5 80 72 6 42 42 0 ZNF761,missense_variant,p.Arg459Leu,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.Arg459Leu,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; T ENSG00000160336 ENST00000432094 Transcript missense_variant 1683/4061 1376/2241 459/746 R/L cGt/cTt rs779549000,COSM1293825 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 tolerated(0.42) benign(0.005) 5/5 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,hmmpanther:PTHR24377:SF330,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 8.148e-06 1.795e-05 53455883 ZNF628 . GRCh38 chr19 55481918 55481918 + Missense_Mutation SNP A A C novel 7316-324 BS_4T617TSG A A c.725A>C p.Gln242Pro p.Q242P ENST00000598519 3/3 64 53 8 44 40 2 ZNF628,missense_variant,p.Gln242Pro,ENST00000598519,NM_033113.2;ZNF628,missense_variant,p.Gln241Pro,ENST00000391718,;NAT14,upstream_gene_variant,,ENST00000205194,NM_020378.3;NAT14,upstream_gene_variant,,ENST00000587400,;NAT14,upstream_gene_variant,,ENST00000588985,;ZNF628,downstream_gene_variant,,ENST00000591164,;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000592719,; C ENSG00000197483 ENST00000598519 Transcript missense_variant 1278/3847 725/3180 242/1059 Q/P cAg/cCg 1 1 ZNF628 HGNC HGNC:28054 protein_coding YES CCDS33116.3 ENSP00000469591 Q5EBL2 UPI00026B9C6E NM_033113.2 tolerated(0.12) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR24384,Gene3D:2.10.110.10 MODERATE 1 SNV 1 PASS CAG . . 55481918 MATN4 . GRCh38 chr20 45304600 45304600 + Missense_Mutation SNP A A C rs1475994683 7316-324 BS_4T617TSG A A c.271T>G p.Phe91Val p.F91V ENST00000372756 2/9 68 55 12 38 38 0 MATN4,missense_variant,p.Phe91Val,ENST00000372754,;MATN4,missense_variant,p.Phe91Val,ENST00000360607,NM_030590.3;MATN4,missense_variant,p.Phe91Val,ENST00000372756,NM_003833.4;MATN4,missense_variant,p.Phe91Val,ENST00000537548,;MATN4,missense_variant,p.Phe91Val,ENST00000353917,NM_030592.3;RBPJL,upstream_gene_variant,,ENST00000343694,NM_014276.3;RBPJL,upstream_gene_variant,,ENST00000372741,NM_001281448.1;RBPJL,upstream_gene_variant,,ENST00000372743,NM_001281449.1; C ENSG00000124159 ENST00000372756 Transcript missense_variant 280/2077 271/1746 91/581 F/V Ttc/Gtc rs1475994683 1 -1 MATN4 HGNC HGNC:6910 protein_coding YES CCDS13348.1 ENSP00000361842 O95460 UPI000016054E NM_003833.4 possibly_damaging(0.805) 2/9 cd01475,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300,PROSITE_profiles:PS50234,hmmpanther:PTHR45365 MODERATE 1 SNV 1 PASS AAC . . 4.117e-06 5.85e-05 45304600 NCOA3 . GRCh38 chr20 47642331 47642331 + Missense_Mutation SNP A A C novel 7316-324 BS_4T617TSG A A c.3199A>C p.Thr1067Pro p.T1067P ENST00000371998 17/23 67 58 8 29 29 0 NCOA3,missense_variant,p.Thr1067Pro,ENST00000372004,NM_006534.3;NCOA3,missense_variant,p.Thr1062Pro,ENST00000371997,NM_001174088.1;NCOA3,missense_variant,p.Thr1067Pro,ENST00000371998,NM_181659.2,NM_001174087.1;,regulatory_region_variant,,ENSR00000137969,; C ENSG00000124151 ENST00000371998 Transcript missense_variant 3390/4668 3199/4275 1067/1424 T/P Aca/Cca 1 1 NCOA3 HGNC HGNC:7670 protein_coding YES CCDS13407.1 ENSP00000361066 Q9Y6Q9 UPI000012FE45 NM_181659.2,NM_001174087.1 tolerated(0.07) probably_damaging(0.972) 17/23 hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,Pfam_domain:PF08815,Gene3D:1.10.287.1070,PIRSF_domain:PIRSF038181,Superfamily_domains:SSF69125 MODERATE 1 SNV 1 PASS CAC . . 47642331 RUNX1 . GRCh38 chr21 34792313 34792313 + Missense_Mutation SNP T T G novel 7316-324 BS_4T617TSG T T c.1265A>C p.Glu422Ala p.E422A ENST00000300305 8/8 46 28 8 37 35 1 RUNX1,missense_variant,p.Glu395Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Glu422Ala,ENST00000300305,;RUNX1,missense_variant,p.Glu422Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Glu331Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; G ENSG00000159216 ENST00000300305 Transcript missense_variant 1710/6222 1265/1443 422/480 E/A gAg/gCg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) benign(0.079) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS CTC . . 34792313 TUBGCP6 . GRCh38 chr22 50220818 50220818 + Missense_Mutation SNP C C A 7316-324 BS_4T617TSG C C c.3541G>T p.Ala1181Ser p.A1181S ENST00000248846 16/25 63 39 10 22 20 0 TUBGCP6,missense_variant,p.Ala1181Ser,ENST00000439308,;TUBGCP6,missense_variant,p.Ala1181Ser,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; A ENSG00000128159 ENST00000248846 Transcript missense_variant 3646/5612 3541/5460 1181/1819 A/S Gcc/Tcc COSM3065045 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 tolerated(1) benign(0.001) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 1 MODERATE 1 SNV 1 1 1 PASS GCG . . 50220818 NR0B1 . GRCh38 chrX 30309157 30309157 + Nonsense_Mutation SNP G G T 7316-324 BS_4T617TSG G G c.207C>A p.Cys69Ter p.C69* ENST00000378970 1/2 39 28 7 18 18 0 NR0B1,stop_gained,p.Cys69Ter,ENST00000378970,NM_000475.4;NR0B1,upstream_gene_variant,,ENST00000378963,; T ENSG00000169297 ENST00000378970 Transcript stop_gained 442/2021 207/1413 69/470 C/* tgC/tgA COSM6294040,COSM6294039,COSM5030506,COSM5030505 1 -1 NR0B1 HGNC HGNC:7960 protein_coding YES CCDS14223.1 ENSP00000368253 P51843 F1D8P4 UPI0000128ED4 NM_000475.4 1/2 hmmpanther:PTHR24081:SF1,hmmpanther:PTHR24081,Pfam_domain:PF14046 1,1,1,1 HIGH 1 SNV 1 1,1,1,1 1 PASS CGC . . 30309157 UBA6 . GRCh38 chr4 67696711 67696712 + Splice_Region INS - - A rs756367372 7316-1793 BS_ET04R6F9 - - c.72-5dup ENST00000322244 79 67 5 39 37 0 UBA6,splice_region_variant,,ENST00000322244,NM_018227.5;UBA6,splice_region_variant,,ENST00000420827,;UBA6-AS1,upstream_gene_variant,,ENST00000498917,;UBA6-AS1,upstream_gene_variant,,ENST00000500538,;UBA6-AS1,upstream_gene_variant,,ENST00000506606,;UBA6-AS1,upstream_gene_variant,,ENST00000514109,;UBA6,splice_region_variant,,ENST00000429659,;UBA6,splice_region_variant,,ENST00000506571,; A ENSG00000033178 ENST00000322244 Transcript splice_region_variant,intron_variant rs756367372 1 -1 UBA6 HGNC HGNC:25581 protein_coding YES CCDS3516.1 ENSP00000313454 A0AVT1 A0A024RDB0 UPI000004A4F7 NM_018227.5 1/32 LOW 1 insertion 1 PASS GGA . . 0.001689 0.002925 0.003404 0.001061 0.002079 0.0003294 0.001263 0.002023 0.001996 67696711 RCAN2 . GRCh38 chr6 46456948 46456948 + Missense_Mutation SNP A A G novel 7316-1793 BS_ET04R6F9 A A c.29T>C p.Met10Thr p.M10T ENST00000371374 2/5 69 61 7 44 44 0 RCAN2,missense_variant,p.Met10Thr,ENST00000371374,NM_001251974.1;RCAN2,missense_variant,p.Met10Thr,ENST00000306764,NM_001251973.1; G ENSG00000172348 ENST00000371374 Transcript missense_variant 221/3327 29/732 10/243 M/T aTg/aCg 1 -1 RCAN2 HGNC HGNC:3041 protein_coding YES CCDS59023.1 ENSP00000360425 Q14206 UPI00001AEE48 NM_001251974.1 deleterious_low_confidence(0) possibly_damaging(0.774) 2/5 MODERATE 1 SNV 1 PASS CAT . . 46456948 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-1793 BS_ET04R6F9 A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 87 81 6 52 50 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 KCNB2 . GRCh38 chr8 72936826 72936826 + Missense_Mutation SNP C C T rs1422039688 7316-1793 BS_ET04R6F9 C C c.1471C>T p.Arg491Trp p.R491W ENST00000523207 3/3 66 50 16 32 32 0 KCNB2,missense_variant,p.Arg491Trp,ENST00000523207,NM_004770.2; T ENSG00000182674 ENST00000523207 Transcript missense_variant 2059/3582 1471/2736 491/911 R/W Cgg/Tgg rs1422039688,COSM218962 1 1 KCNB2 HGNC HGNC:6232 protein_coding YES CCDS6209.1 ENSP00000430846 Q92953 UPI000012DC85 NM_004770.2 deleterious_low_confidence(0) probably_damaging(0.983) 3/3 hmmpanther:PTHR11537:SF134,hmmpanther:PTHR11537,Pfam_domain:PF03521 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 72936826 HRCT1 . GRCh38 chr9 35906351 35906353 + In_Frame_Del DEL CTG CTG - rs370606246 7316-1793 BS_ET04R6F9 CTG CTG c.82_84del p.Leu28del p.L28del ENST00000354323 1/1 58 45 5 27 21 0 HRCT1,inframe_deletion,p.Leu28del,ENST00000354323,NM_001039792.1;SPAAR,upstream_gene_variant,,ENST00000443779,NM_001348107.1;SPAAR,upstream_gene_variant,,ENST00000636776,;SPAAR,upstream_gene_variant,,ENST00000638062,;,regulatory_region_variant,,ENSR00000234704,; - ENSG00000196196 ENST00000354323 Transcript inframe_deletion 160-162/950 64-66/348 22/115 L/- CTG/- rs370606246,COSM1490012 1 1 HRCT1 HGNC HGNC:33872 protein_coding YES CCDS35012.1 ENSP00000346283 Q6UXD1 UPI0000048EC9 NM_001039792.1 1/1 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix 0.08726 0.09074 0,1 MODERATE deletion 18 0,1 PASS TCCTGC . . 0.02836 0.01254 0.02974 0.05007 0.01641 0.0294 0.02709 0.0298 0.04178 35906350 ARMH3 . GRCh38 chr10 101957735 101957736 + Splice_Region INS - - A rs765215747 7316-1793 BS_ET04R6F9 - - c.1496-4_1496-3insT ENST00000370033 86 76 7 29 28 0 ARMH3,splice_region_variant,,ENST00000370033,NM_024541.2; A ENSG00000120029 ENST00000370033 Transcript splice_region_variant,intron_variant rs765215747 1 -1 ARMH3 HGNC HGNC:25788 protein_coding YES CCDS41563.1 ENSP00000359050 Q5T2E6 UPI000047005B NM_024541.2 20/25 LOW 1 insertion 5 PASS TTT . . 0.0006435 0.0006335 0.0007869 0.0001801 0.001517 0.0009618 0.0005402 0.0005397 101957735 PACS1 . GRCh38 chr11 66233015 66233015 + Missense_Mutation SNP C C T novel 7316-1793 BS_ET04R6F9 C C c.1787C>T p.Thr596Ile p.T596I ENST00000320580 15/24 64 55 8 31 29 0 PACS1,missense_variant,p.Thr596Ile,ENST00000320580,NM_018026.3;PACS1,missense_variant,p.Thr132Ile,ENST00000529757,;PACS1,5_prime_UTR_variant,,ENST00000528935,;PACS1,upstream_gene_variant,,ENST00000529795,; T ENSG00000175115 ENST00000320580 Transcript missense_variant 1820/4392 1787/2892 596/963 T/I aCc/aTc 1 1 PACS1 HGNC HGNC:30032 protein_coding YES CCDS8129.1 ENSP00000316454 Q6VY07 A0A024R5H6 UPI0000190973 NM_018026.3 tolerated(0.12) benign(0.003) 15/24 hmmpanther:PTHR13280:SF16,hmmpanther:PTHR13280,Pfam_domain:PF10254 MODERATE 1 SNV 1 1 PASS ACC . . 66233015 ZNF10 . GRCh38 chr12 133155830 133155830 + Missense_Mutation SNP T T C novel 7316-1793 BS_ET04R6F9 T T c.584T>C p.Leu195Ser p.L195S ENST00000248211 5/5 92 80 11 38 38 0 ZNF10,missense_variant,p.Leu195Ser,ENST00000248211,NM_015394.4;ZNF10,missense_variant,p.Leu195Ser,ENST00000426665,;ZNF10,intron_variant,,ENST00000402932,;AC026786.1,intron_variant,,ENST00000540096,;ZNF10,downstream_gene_variant,,ENST00000536877,;ZNF10,downstream_gene_variant,,ENST00000538918,;ZNF10,downstream_gene_variant,,ENST00000540609,;ZNF10,downstream_gene_variant,,ENST00000536704,;ZNF10,downstream_gene_variant,,ENST00000540927,;ZNF10,non_coding_transcript_exon_variant,,ENST00000537119,; C ENSG00000256223 ENST00000248211 Transcript missense_variant 806/4441 584/1722 195/573 L/S tTa/tCa 1 1 ZNF10 HGNC HGNC:12879 protein_coding YES CCDS9283.1 ENSP00000248211 P21506 UPI0000073582 NM_015394.4 tolerated(0.45) benign(0.003) 5/5 hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF124,Gene3D:3.30.160.60 MODERATE 1 SNV 1 PASS TTA . . 133155830 MYCBP2 . GRCh38 chr13 77217965 77217965 + Splice_Region DEL A A - rs374242789 7316-1793 BS_ET04R6F9 A A c.2826-8del ENST00000544440 72 51 13 29 27 0 MYCBP2,splice_region_variant,,ENST00000357337,NM_015057.4;MYCBP2,splice_region_variant,,ENST00000544440,; - ENSG00000005810 ENST00000544440 Transcript splice_region_variant,intron_variant rs374242789,TMP_ESP_13_77792100_77792100,COSM3728968,COSM3728967,COSM3728966 1 -1 MYCBP2 HGNC HGNC:23386 protein_coding YES ENSP00000444596 O75592 UPI0000212757 20/82 0.3342 0.3459 0,0,1,1,1 LOW 1 deletion 1 0,0,1,1,1 PASS TTAA . . 0.4337 0.4257 0.4392 0.4515 0.3207 0.4351 0.4434 0.4235 0.4538 77217964 TFAP4 . GRCh38 chr16 4260224 4260224 + Missense_Mutation SNP T T G rs767084889 7316-1793 BS_ET04R6F9 T T c.688A>C p.Thr230Pro p.T230P ENST00000204517 6/7 37 29 8 18 17 1 TFAP4,missense_variant,p.Thr230Pro,ENST00000204517,NM_003223.2;TFAP4,downstream_gene_variant,,ENST00000572393,;TFAP4,3_prime_UTR_variant,,ENST00000574639,;TFAP4,non_coding_transcript_exon_variant,,ENST00000575320,;TFAP4,downstream_gene_variant,,ENST00000573476,;TFAP4,downstream_gene_variant,,ENST00000575300,;TFAP4,upstream_gene_variant,,ENST00000575672,; G ENSG00000090447 ENST00000204517 Transcript missense_variant 1017/2215 688/1017 230/338 T/P Acc/Ccc rs767084889,COSM1519193 1 -1 TFAP4 HGNC HGNC:11745 protein_coding YES CCDS10510.1 ENSP00000204517 Q01664 UPI00001368DA NM_003223.2 tolerated(0.06) probably_damaging(0.981) 6/7 hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF27,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.01047 0.005821 0.01935 0.01875 0.01245 0.01305 0.007206 0.02341 0.01499 4260224 GATA6 . GRCh38 chr18 22172112 22172114 + In_Frame_Del DEL ACC ACC - rs587780342 7316-1793 BS_ET04R6F9 ACC ACC c.996_998del p.His333del p.H333del ENST00000269216 2/7 52 34 5 30 27 0 GATA6,inframe_deletion,p.His333del,ENST00000269216,NM_005257.5;GATA6,inframe_deletion,p.His333del,ENST00000581694,;GATA6-AS1,upstream_gene_variant,,ENST00000579431,;GATA6-AS1,upstream_gene_variant,,ENST00000583490,;GATA6-AS1,upstream_gene_variant,,ENST00000584201,;GATA6-AS1,upstream_gene_variant,,ENST00000584373,;AC091588.1,downstream_gene_variant,,ENST00000578504,;,regulatory_region_variant,,ENSR00000285324,; - ENSG00000141448 ENST00000269216 Transcript inframe_deletion 1245-1247/3770 968-970/1788 323-324/595 YH/Y tACCac/tac rs587780342,TMP_ESP_18_19752073_19752075,COSM4686489 1 1 GATA6 HGNC HGNC:4174 protein_coding YES CCDS11872.1 ENSP00000269216 Q92908 UPI0000201AC8 NM_005257.5 2/7 Pfam_domain:PF05349,PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF23,mobidb-lite,Low_complexity_(Seg):seg 0.07516 0.0738 benign 0,0,1 18414213 MODERATE 1 deletion 1 28 1,0,1 1 PASS GTACCA . . 0.1117 0.1532 0.1114 0.09316 0.1304 0.1025 0.1073 0.1056 0.1112 22172111 GALNT1 . GRCh38 chr18 35692328 35692329 + Splice_Region DEL AT AT - rs201969184 7316-1793 BS_ET04R6F9 AT AT c.1299+22_1299+23del ENST00000269195 58 45 5 35 33 0 GALNT1,splice_region_variant,,ENST00000269195,NM_020474.3;GALNT1,splice_region_variant,,ENST00000590654,;GALNT1,intron_variant,,ENST00000589189,; - ENSG00000141429 ENST00000269195 Transcript splice_region_variant,intron_variant rs201969184,COSM1721977 1 1 GALNT1 HGNC HGNC:4123 protein_coding YES CCDS11915.1 ENSP00000269195 Q10472 A0A024RC48 UPI00001311FC NM_020474.3 8/10 0.1763 0.2003 0,1 LOW 1 deletion 1 14 0,1 PASS AAATA . . 0.1212 0.1145 0.1078 0.0933 0.1071 0.1211 0.1294 0.09838 0.1286 35692327 LILRA1 . GRCh38 chr19 54595864 54595864 + Missense_Mutation SNP G G C rs757520653 7316-1793 BS_ET04R6F9 G G c.887G>C p.Arg296Thr p.R296T ENST00000251372 6/10 69 56 12 40 40 0 LILRA1,missense_variant,p.Arg296Thr,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; C ENSG00000104974 ENST00000251372 Transcript missense_variant 1069/1910 887/1470 296/489 R/T aGa/aCa rs757520653 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(0.09) benign(0.181) 6/10 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS AGA . . 6.105e-05 5.972e-05 0.0001346 6.278e-05 0.0001826 6.51e-05 54595864 LILRA1 . GRCh38 chr19 54595932 54595932 + Missense_Mutation SNP G G A rs149029653 7316-1793 BS_ET04R6F9 G G c.955G>A p.Ala319Thr p.A319T ENST00000251372 6/10 60 50 10 39 36 0 LILRA1,missense_variant,p.Ala319Thr,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; A ENSG00000104974 ENST00000251372 Transcript missense_variant 1137/1910 955/1470 319/489 A/T Gca/Aca rs149029653,COSM4768465 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(0.56) benign(0.056) 6/10 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00409,Superfamily_domains:SSF48726 0.0034 0.0106 0.001 0.001 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.0007117 0.009415 0.0004178 0.0003482 6.377e-05 0.000184 0.0002607 54595932 TENM1 . GRCh38 chrX 124380646 124380646 + Missense_Mutation SNP C C T novel 7316-1793 BS_ET04R6F9 C C c.8089G>A p.Val2697Ile p.V2697I ENST00000422452 32/32 76 67 8 25 25 0 TENM1,missense_variant,p.Val2697Ile,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Val2690Ile,ENST00000371130,NM_014253.3;STAG2,intron_variant,,ENST00000469481,; T ENSG00000009694 ENST00000422452 Transcript missense_variant 8153/12891 8089/8199 2697/2732 V/I Gta/Ata 1 -1 TENM1 HGNC HGNC:8117 protein_coding YES CCDS55488.1 ENSP00000403954 Q9UKZ4 UPI0000211B6A NM_001163278.1,NM_001163279.1 deleterious(0.01) possibly_damaging(0.62) 32/32 Pfam_domain:PF15636,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF9 MODERATE 1 SNV 1 1 PASS ACC . . 124380646 MAGEC1 . GRCh38 chrX 141906041 141906041 + Missense_Mutation SNP A A C rs143392898 7316-1793 BS_ET04R6F9 A A c.637A>C p.Ile213Leu p.I213L ENST00000285879 4/4 93 79 8 53 51 0 MAGEC1,missense_variant,p.Ile213Leu,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; C ENSG00000155495 ENST00000285879 Transcript missense_variant 923/4270 637/3429 213/1142 I/L Att/Ctt rs143392898,COSM1235624 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(1) benign(0.005) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 0.009648 0.02112 0,1 MODERATE 1 SNV 1 0,1 PASS TAT . . 141906041 TM2D1 . GRCh38 chr1 61723789 61723789 + Splice_Region DEL A A - rs147863719 7316-120 BS_92HPNHFB A A c.165-3del ENST00000606498 82 72 6 48 43 0 TM2D1,splice_region_variant,,ENST00000294613,;TM2D1,splice_region_variant,,ENST00000371177,;TM2D1,splice_region_variant,,ENST00000371180,;TM2D1,splice_region_variant,,ENST00000606498,NM_032027.2;TM2D1,splice_region_variant,,ENST00000371178,;TM2D1,intron_variant,,ENST00000468586,;TM2D1,intron_variant,,ENST00000488206,;TM2D1,intron_variant,,ENST00000494926,;TM2D1,intron_variant,,ENST00000496465,; - ENSG00000162604 ENST00000606498 Transcript splice_region_variant,intron_variant rs147863719,COSM5491129,COSM5491128,COSM5491127 1 -1 TM2D1 HGNC HGNC:24142 protein_coding YES CCDS65554.1 ENSP00000475700 Q9BX74 UPI000006D36C NM_032027.2 1/6 0,1,1,1 LOW 1 deletion 5 0,1,1,1 PASS GTAA . . 0.007169 0.006118 0.01337 0.006628 0.01127 0.004375 0.005221 0.01048 0.008842 61723788 CAPN8 . GRCh38 chr1 223616058 223616058 + Missense_Mutation SNP G G C novel 7316-120 BS_92HPNHFB G G c.1223C>G p.Thr408Arg p.T408R ENST00000366872 10/21 94 89 5 45 45 0 CAPN8,missense_variant,p.Thr408Arg,ENST00000366872,NM_001143962.1;CAPN8,missense_variant,p.Thr408Arg,ENST00000419193,;CAPN8,downstream_gene_variant,,ENST00000366873,;CAPN8,downstream_gene_variant,,ENST00000467384,; C ENSG00000203697 ENST00000366872 Transcript missense_variant 1311/2427 1223/2112 408/703 T/R aCa/aGa 1 -1 CAPN8 HGNC HGNC:1485 protein_coding YES CCDS73038.1 ENSP00000355837 A6NHC0 UPI0000157E1A NM_001143962.1 deleterious(0.01) probably_damaging(0.984) 10/21 Gene3D:2.60.120.380,Pfam_domain:PF01067,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF374,SMART_domains:SM00720,Superfamily_domains:SSF49758,cd00214 MODERATE 1 SNV 1 PASS TGT . . 223616058 PXDN . GRCh38 chr2 1693085 1693085 + Missense_Mutation SNP G G A rs760353438 7316-120 BS_92HPNHFB G G c.250C>T p.Arg84Trp p.R84W ENST00000252804 2/23 87 77 10 58 58 0 PXDN,missense_variant,p.Arg84Trp,ENST00000252804,NM_012293.2;PXDN,missense_variant,p.Arg80Trp,ENST00000433670,;PXDN,missense_variant,p.Arg84Trp,ENST00000425171,;PXDN,upstream_gene_variant,,ENST00000447941,;PXDN,non_coding_transcript_exon_variant,,ENST00000485177,; A ENSG00000130508 ENST00000252804 Transcript missense_variant 301/6808 250/4440 84/1479 R/W Cgg/Tgg rs760353438,COSM5034875 1 -1 PXDN HGNC HGNC:14966 protein_coding YES CCDS46221.1 ENSP00000252804 Q92626 UPI00001C1DC2 NM_012293.2 deleterious(0.02) possibly_damaging(0.806) 2/23 Low_complexity_(Seg):seg,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058,PROSITE_profiles:PS51450 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGC . . 1.807e-05 8.415e-05 1.513e-05 4.267e-05 1693085 SSB . GRCh38 chr2 169808498 169808498 + Frame_Shift_Del DEL A A - rs753297385 7316-120 BS_92HPNHFB A A c.578del p.Asn193MetfsTer13 p.N193Mfs*13 ENST00000409333 7/12 104 97 5 55 50 0 SSB,frameshift_variant,p.Asn193MetfsTer13,ENST00000409333,NM_001294145.1;SSB,frameshift_variant,p.Asn193MetfsTer13,ENST00000260956,NM_003142.4;METTL5,downstream_gene_variant,,ENST00000260953,NM_014168.3;METTL5,downstream_gene_variant,,ENST00000308099,;METTL5,downstream_gene_variant,,ENST00000392640,NM_001293187.1;METTL5,downstream_gene_variant,,ENST00000409340,;METTL5,downstream_gene_variant,,ENST00000409837,;METTL5,downstream_gene_variant,,ENST00000409965,NM_001293186.1;METTL5,downstream_gene_variant,,ENST00000410097,;SSB,downstream_gene_variant,,ENST00000417292,;SSB,downstream_gene_variant,,ENST00000422006,;METTL5,downstream_gene_variant,,ENST00000442181,;METTL5,downstream_gene_variant,,ENST00000538491,;SSB,non_coding_transcript_exon_variant,,ENST00000490914,;SSB,non_coding_transcript_exon_variant,,ENST00000474273,;SSB,non_coding_transcript_exon_variant,,ENST00000470621,;SSB,non_coding_transcript_exon_variant,,ENST00000465871,;SSB,downstream_gene_variant,,ENST00000413002,;SSB,downstream_gene_variant,,ENST00000461708,;SSB,downstream_gene_variant,,ENST00000468600,;METTL5,downstream_gene_variant,,ENST00000484351,;SSB,upstream_gene_variant,,ENST00000494051,;METTL5,downstream_gene_variant,,ENST00000537825,;,regulatory_region_variant,,ENSR00000126024,; - ENSG00000138385 ENST00000409333 Transcript frameshift_variant 818/1782 571/1227 191/408 K/X Aaa/aa rs753297385,COSM1401121 1 1 SSB HGNC HGNC:11316 protein_coding YES CCDS2237.1 ENSP00000386636 P05455 UPI000012E243 NM_001294145.1 7/12 PDB-ENSP_mappings:1s79.A,PDB-ENSP_mappings:1yty.A,PDB-ENSP_mappings:1yty.B,PDB-ENSP_mappings:1zh5.A,PDB-ENSP_mappings:1zh5.B,PDB-ENSP_mappings:2vod.A,PDB-ENSP_mappings:2vod.B,PDB-ENSP_mappings:2von.A,PDB-ENSP_mappings:2von.B,PDB-ENSP_mappings:2voo.A,PDB-ENSP_mappings:2voo.B,PDB-ENSP_mappings:2vop.A,Gene3D:3.30.70.330,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF100,Superfamily_domains:SSF54928 0,1 HIGH 1 deletion 1 7 0,1 PASS CCAA . . 8.294e-06 1.822e-05 169808497 LINC02232 . GRCh38 chr4 65004501 65004501 + Splice_Region SNP T T C novel 7316-120 BS_92HPNHFB T T n.381A>G ENST00000509932 3/9 75 69 6 35 35 0 LINC02232,splice_region_variant,,ENST00000509932,; C ENSG00000250125 ENST00000509932 Transcript splice_region_variant,non_coding_transcript_exon_variant 381/4460 1 -1 LINC02232 HGNC HGNC:53103 lincRNA YES 3/9 LOW 1 SNV 1 PASS CTC . . 65004501 FRG1 . GRCh38 chr4 189957397 189957397 + Splice_Site DEL G G - rs755906011 7316-120 BS_92HPNHFB G G c.435del p.Met147TrpfsTer19 p.X145_splice ENST00000226798 104 96 6 36 34 0 FRG1,splice_acceptor_variant,p.Met147TrpfsTer19,ENST00000226798,NM_004477.2;FRG1,splice_acceptor_variant,p.Met19TrpfsTer19,ENST00000524583,;FRG1,splice_acceptor_variant,p.Met84TrpfsTer19,ENST00000531991,;FRG1,splice_acceptor_variant,,ENST00000514482,;FRG1,upstream_gene_variant,,ENST00000505327,;FRG1,upstream_gene_variant,,ENST00000507103,;FRG1,downstream_gene_variant,,ENST00000533157,; - ENSG00000109536 ENST00000226798 Transcript splice_acceptor_variant rs755906011,COSM6028664,COSM1173049 1 1 FRG1 HGNC HGNC:3954 protein_coding YES CCDS34121.1 ENSP00000226798 Q14331 UPI000012AC04 NM_004477.2 5/8 0,1,1 HIGH 1 deletion 1 3 0,1,1 1 PASS TAGG . . 0.000644 0.001551 0.0003978 0.0008016 0.0007453 0.0005376 0.0006209 0.0006508 0.0006731 189957396 TRGV5 . GRCh38 chr7 38349809 38349809 + Missense_Mutation SNP G G C rs140194030 7316-120 BS_92HPNHFB G G c.16C>G p.Leu6Val p.L6V ENST00000390344 1/2 58 41 16 26 26 0 TRGV5,missense_variant,p.Leu6Val,ENST00000390344,;TRGV4,downstream_gene_variant,,ENST00000390345,;TRG-AS1,intron_variant,,ENST00000629357,;,regulatory_region_variant,,ENSR00000211124,;,regulatory_region_variant,,ENSR00000325767,;TRGV5P,upstream_gene_variant,,ENST00000419915,; C ENSG00000211697 ENST00000390344 Transcript missense_variant 214/552 16/354 6/118 L/V Ctg/Gtg rs140194030 1 -1 TRGV5 HGNC HGNC:12290 TR_V_gene YES ENSP00000374867 A0A0B4J1U4 UPI0000114498 tolerated(0.41) benign(0.001) 1/2 0.2135 0.1868 0.2579 0.246 0.2316 0.1656 MODERATE SNV PASS AGT . . 0.2497 0.1442 0.2715 0.2952 0.2519 0.3391 0.2716 0.2653 0.1491 38349809 SPOUT1 . GRCh38 chr9 128828840 128828841 + Frame_Shift_Ins INS - - T rs749421754 7316-120 BS_92HPNHFB - - c.102dup p.Trp35MetfsTer77 p.W35Mfs*77 ENST00000361256 3/12 80 65 7 37 32 0 SPOUT1,frameshift_variant,p.Trp35MetfsTer77,ENST00000361256,NM_016390.3;KYAT1,downstream_gene_variant,,ENST00000302586,NM_001122671.1,NM_004059.4;KYAT1,downstream_gene_variant,,ENST00000320665,NM_001122672.1;KYAT1,downstream_gene_variant,,ENST00000436267,NM_001287390.1,NM_001352994.1,NM_001352996.1,NM_001352995.1;SPOUT1,upstream_gene_variant,,ENST00000467582,;KYAT1,downstream_gene_variant,,ENST00000462722,;KYAT1,downstream_gene_variant,,ENST00000483599,;SPOUT1,non_coding_transcript_exon_variant,,ENST00000466556,;SPOUT1,upstream_gene_variant,,ENST00000467396,;SPOUT1,upstream_gene_variant,,ENST00000480366,; T ENSG00000198917 ENST00000361256 Transcript frameshift_variant 143-144/4286 102-103/1131 34-35/376 -/X -/A rs749421754 1 -1 SPOUT1 HGNC HGNC:26933 protein_coding YES CCDS6913.1 ENSP00000354812 Q5T280 UPI0000140A15 NM_016390.3 3/12 Low_complexity_(Seg):seg,hmmpanther:PTHR12150 HIGH 1 insertion 1 PASS CAT . . 0.0001442 9.48e-05 0.0003161 0.0001841 0.0002235 3.4e-05 128828840 CYP2C9 . GRCh38 chr10 94941877 94941877 + Missense_Mutation SNP C C T novel 7316-120 BS_92HPNHFB C C c.188C>T p.Pro63Leu p.P63L ENST00000260682 2/9 98 92 6 53 52 0 CYP2C9,missense_variant,p.Pro63Leu,ENST00000260682,NM_000771.3;CYP2C9,missense_variant,p.Pro63Leu,ENST00000461906,;CYP2C9,missense_variant,p.Pro63Leu,ENST00000643112,;CYP2C9,non_coding_transcript_exon_variant,,ENST00000645207,;CYP2C9,upstream_gene_variant,,ENST00000473496,;MTND4P20,upstream_gene_variant,,ENST00000424125,; T ENSG00000138109 ENST00000260682 Transcript missense_variant 213/1861 188/1473 63/490 P/L cCt/cTt 1 1 CYP2C9 HGNC HGNC:2623 protein_coding YES CCDS7437.1 ENSP00000260682 P11712 S5RV20 UPI0000128258 NM_000771.3 deleterious(0) probably_damaging(0.969) 2/9 Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF131,Superfamily_domains:SSF48264 MODERATE 1 SNV 1 1 PASS CCT . . 94941877 DRD4 . GRCh38 chr11 639988 639988 + Missense_Mutation SNP A A C rs1259678547 7316-120 BS_92HPNHFB A A c.739A>C p.Thr247Pro p.T247P ENST00000176183 3/4 74 51 15 32 29 0 DRD4,missense_variant,p.Thr247Pro,ENST00000176183,NM_000797.3;DEAF1,downstream_gene_variant,,ENST00000382409,NM_021008.3,NM_001293634.1;DEAF1,downstream_gene_variant,,ENST00000527658,;DRD4,downstream_gene_variant,,ENST00000528733,;DEAF1,downstream_gene_variant,,ENST00000527170,;,regulatory_region_variant,,ENSR00000035666,; C ENSG00000069696 ENST00000176183 Transcript missense_variant 751/1375 739/1260 247/419 T/P Acg/Ccg rs1259678547 1 1 DRD4 HGNC HGNC:3025 protein_coding YES CCDS7710.1 ENSP00000176183 P21917 UPI000011F17B NM_000797.3 tolerated(0.35) benign(0.007) 3/4 Low_complexity_(Seg):seg,mobidb-lite,cd15308,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,PROSITE_profiles:PS50262,hmmpanther:PTHR44250,hmmpanther:PTHR44250:SF1 MODERATE 1 SNV 1 1 PASS CAC . . 639988 PRB4 . GRCh38 chr12 11308811 11308811 + Missense_Mutation SNP G G C rs76859544 7316-120 BS_92HPNHFB G G c.172C>G p.Gln58Glu p.Q58E ENST00000279575 3/4 77 62 8 53 47 0 PRB4,missense_variant,p.Gln58Glu,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Gln58Glu,ENST00000535904,;PRB4,missense_variant,p.Gln58Glu,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Gln58Glu,ENST00000445719,; C ENSG00000230657 ENST00000279575 Transcript missense_variant 209/916 172/744 58/247 Q/E Caa/Gaa rs76859544,COSM1579417 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(1) benign(0) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 5 0,1 PASS TGT . . 0.004215 0.0061 0.004203 0.002131 0.009784 0.001884 0.003744 0.006316 0.004302 11308811 GOLGA6L9 . GRCh38 chr15 82434605 82434605 + Splice_Region SNP G G A rs1380876243 7316-120 BS_92HPNHFB G G c.1002+3G>A ENST00000618348 72 58 14 64 63 1 GOLGA6L9,splice_region_variant,,ENST00000618348,NM_001291420.1,NM_198181.3;AC243919.1,downstream_gene_variant,,ENST00000613086,;GOLGA6L9,splice_region_variant,,ENST00000618706,;GOLGA6L9,downstream_gene_variant,,ENST00000558668,; A ENSG00000197978 ENST00000618348 Transcript splice_region_variant,intron_variant rs1380876243 1 1 GOLGA6L9 HGNC HGNC:37229 protein_coding YES CCDS45326.1 ENSP00000481078 A6NEM1 UPI000442D01A NM_001291420.1,NM_198181.3 6/8 LOW 1 SNV 5 PASS TGC . . 82434605 RPS15 . GRCh38 chr19 1440069 1440069 + Missense_Mutation SNP G G C rs201657403 7316-120 BS_92HPNHFB G G c.161G>C p.Arg54Pro p.R54P ENST00000593052 3/4 92 83 9 52 52 0 RPS15,missense_variant,p.Arg20Pro,ENST00000592623,;RPS15,missense_variant,p.Arg14Pro,ENST00000591804,;RPS15,missense_variant,p.Arg54Pro,ENST00000593052,NM_001308226.1;RPS15,missense_variant,p.Arg47Pro,ENST00000586096,;RPS15,missense_variant,p.Arg14Pro,ENST00000586686,;RPS15,missense_variant,p.Arg37Pro,ENST00000591032,;RPS15,missense_variant,p.Arg20Pro,ENST00000233609,;RPS15,missense_variant,p.Arg47Pro,ENST00000592588,NM_001018.4;RPS15,missense_variant,p.Arg47Pro,ENST00000589656,;RPS15,missense_variant,p.Arg14Pro,ENST00000585665,;RPS15,missense_variant,p.Arg14Pro,ENST00000586656,;DAZAP1,downstream_gene_variant,,ENST00000233078,NM_018959.3,NM_001352033.1;DAZAP1,downstream_gene_variant,,ENST00000336761,NM_170711.2;DAZAP1,downstream_gene_variant,,ENST00000587079,;DAZAP1,downstream_gene_variant,,ENST00000592522,NM_001352034.1;RPS15,downstream_gene_variant,,ENST00000617694,;AC027307.3,upstream_gene_variant,,ENST00000594262,;RPS15,non_coding_transcript_exon_variant,,ENST00000592700,;DAZAP1,downstream_gene_variant,,ENST00000585485,;DAZAP1,downstream_gene_variant,,ENST00000589484,;DAZAP1,downstream_gene_variant,,ENST00000589874,; C ENSG00000115268 ENST00000593052 Transcript missense_variant 299/629 161/459 54/152 R/P cGg/cCg rs201657403,COSM231393 1 1 RPS15 HGNC HGNC:10388 protein_coding YES CCDS77210.1 ENSP00000466010 K7ELC2 UPI0000D4C6EE NM_001308226.1 tolerated(0.08) benign(0.01) 3/4 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,HAMAP:MF_00531,hmmpanther:PTHR11880:SF2,hmmpanther:PTHR11880,TIGRFAM_domain:TIGR01025,PIRSF_domain:PIRSF002144,Pfam_domain:PF00203,Gene3D:3.30.860.10 benign 0,1 MODERATE SNV 2 0,1 1 PASS CGG . . 0.0257 0.01741 0.004505 0.005842 0.02072 0.1037 0.03236 0.01127 0.006926 1440069 C1QC . GRCh38 chr1 22647239 22647239 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.194T>G p.Ile65Ser p.I65S ENST00000374639 3/3 94 82 12 40 39 0 C1QC,missense_variant,p.Ile65Ser,ENST00000374639,NM_001114101.1;C1QC,missense_variant,p.Ile65Ser,ENST00000374640,NM_172369.3;C1QC,missense_variant,p.Ile65Ser,ENST00000374637,; G ENSG00000159189 ENST00000374639 Transcript missense_variant 312/1183 194/738 65/245 I/S aTt/aGt 1 1 C1QC HGNC HGNC:1245 protein_coding YES CCDS227.1 ENSP00000363770 P02747 A0A024RAA7 UPI0000126BF3 NM_001114101.1 tolerated(0.58) benign(0.029) 3/3 hmmpanther:PTHR44403,hmmpanther:PTHR44403:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS ATT . . 22647239 TINAGL1 . GRCh38 chr1 31579203 31579203 + Splice_Site SNP G G T novel 7316-156 BS_S0WS43HJ G G c.311-1G>T p.X104_splice ENST00000271064 61 41 20 38 38 0 TINAGL1,splice_acceptor_variant,,ENST00000271064,NM_022164.2;TINAGL1,splice_acceptor_variant,,ENST00000457433,NM_001204414.1;TINAGL1,splice_acceptor_variant,,ENST00000537531,NM_001204415.1;AC114488.1,upstream_gene_variant,,ENST00000435872,;TINAGL1,splice_acceptor_variant,,ENST00000461030,;TINAGL1,splice_acceptor_variant,,ENST00000468635,;TINAGL1,splice_acceptor_variant,,ENST00000478398,;TINAGL1,splice_acceptor_variant,,ENST00000481165,;LINC01226,intron_variant,,ENST00000639839,;LINC01226,intron_variant,,ENST00000640226,;TINAGL1,upstream_gene_variant,,ENST00000463112,;TINAGL1,downstream_gene_variant,,ENST00000466998,;TINAGL1,upstream_gene_variant,,ENST00000498429,; T ENSG00000142910 ENST00000271064 Transcript splice_acceptor_variant 1 1 TINAGL1 HGNC HGNC:19168 protein_coding YES CCDS343.1 ENSP00000271064 Q9GZM7 UPI000003B0A6 NM_022164.2 2/11 HIGH 1 SNV 1 PASS AGG . . 31579203 TINAGL1 . GRCh38 chr1 31579204 31579204 + Missense_Mutation SNP G G T novel 7316-156 BS_S0WS43HJ G G c.311G>T p.Gly104Val p.G104V ENST00000271064 3/12 62 42 20 38 38 0 TINAGL1,missense_variant,p.Gly104Val,ENST00000271064,NM_022164.2;TINAGL1,missense_variant,p.Gly104Val,ENST00000457433,NM_001204414.1;TINAGL1,splice_region_variant,,ENST00000537531,NM_001204415.1;AC114488.1,upstream_gene_variant,,ENST00000435872,;TINAGL1,splice_region_variant,,ENST00000481165,;TINAGL1,splice_region_variant,,ENST00000468635,;TINAGL1,splice_region_variant,,ENST00000461030,;TINAGL1,splice_region_variant,,ENST00000478398,;LINC01226,intron_variant,,ENST00000639839,;LINC01226,intron_variant,,ENST00000640226,;TINAGL1,upstream_gene_variant,,ENST00000463112,;TINAGL1,downstream_gene_variant,,ENST00000466998,;TINAGL1,upstream_gene_variant,,ENST00000498429,; T ENSG00000142910 ENST00000271064 Transcript missense_variant,splice_region_variant 387/2187 311/1404 104/467 G/V gGa/gTa 1 1 TINAGL1 HGNC HGNC:19168 protein_coding YES CCDS343.1 ENSP00000271064 Q9GZM7 UPI000003B0A6 NM_022164.2 deleterious(0.03) benign(0.212) 3/12 hmmpanther:PTHR12411:SF270,hmmpanther:PTHR12411 MODERATE 1 SNV 1 PASS GGA . . 31579204 COL8A2 . GRCh38 chr1 36099239 36099239 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.442A>C p.Ile148Leu p.I148L ENST00000397799 4/4 102 91 8 47 43 0 COL8A2,missense_variant,p.Ile148Leu,ENST00000397799,NM_005202.3;COL8A2,missense_variant,p.Ile148Leu,ENST00000303143,;COL8A2,missense_variant,p.Ile83Leu,ENST00000481785,NM_001294347.1;,regulatory_region_variant,,ENSR00000004740,; G ENSG00000171812 ENST00000397799 Transcript missense_variant 667/4670 442/2112 148/703 I/L Ata/Cta 1 -1 COL8A2 HGNC HGNC:2216 protein_coding YES CCDS403.1 ENSP00000380901 P25067 UPI00001B2F2D NM_005202.3 tolerated(0.86) benign(0) 4/4 mobidb-lite,hmmpanther:PTHR44057,hmmpanther:PTHR44057:SF3,Pfam_domain:PF01391 MODERATE 1 SNV 5 1 PASS ATT . . 36099239 MAP7D1 . GRCh38 chr1 36178153 36178153 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.1660A>C p.Thr554Pro p.T554P ENST00000373151 9/17 89 69 13 44 42 0 MAP7D1,missense_variant,p.Thr517Pro,ENST00000316156,NM_001286365.1;MAP7D1,missense_variant,p.Thr554Pro,ENST00000373151,NM_018067.4;MAP7D1,missense_variant,p.Thr522Pro,ENST00000373150,NM_001286366.1;MAP7D1,missense_variant,p.Thr137Pro,ENST00000530975,;MAP7D1,downstream_gene_variant,,ENST00000429533,;MAP7D1,non_coding_transcript_exon_variant,,ENST00000373148,;MAP7D1,non_coding_transcript_exon_variant,,ENST00000487131,;MAP7D1,downstream_gene_variant,,ENST00000474796,;MAP7D1,downstream_gene_variant,,ENST00000462118,;MAP7D1,upstream_gene_variant,,ENST00000487114,;MAP7D1,upstream_gene_variant,,ENST00000532131,;,regulatory_region_variant,,ENSR00000004760,; C ENSG00000116871 ENST00000373151 Transcript missense_variant 1876/3324 1660/2526 554/841 T/P Acc/Ccc 1 1 MAP7D1 HGNC HGNC:25514 protein_coding YES CCDS30673.1 ENSP00000362244 Q3KQU3 UPI00005C3036 NM_018067.4 tolerated(0.08) benign(0) 9/17 hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 36178153 CITED4 . GRCh38 chr1 40861742 40861742 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.386T>G p.Leu129Arg p.L129R ENST00000372638 1/1 92 79 8 43 43 0 CITED4,missense_variant,p.Leu129Arg,ENST00000372638,NM_133467.2;AC119677.1,upstream_gene_variant,,ENST00000414199,;,regulatory_region_variant,,ENSR00000005267,; C ENSG00000179862 ENST00000372638 Transcript missense_variant 625/1316 386/555 129/184 L/R cTg/cGg 1 -1 CITED4 HGNC HGNC:18696 protein_coding YES CCDS458.1 ENSP00000361721 Q96RK1 UPI000004241F NM_133467.2 deleterious(0) probably_damaging(0.966) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR17045:SF5,hmmpanther:PTHR17045,Pfam_domain:PF04487 MODERATE SNV PASS CAG . . 40861742 CITED4 . GRCh38 chr1 40861815 40861815 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.313A>C p.Asn105His p.N105H ENST00000372638 1/1 75 58 13 30 29 0 CITED4,missense_variant,p.Asn105His,ENST00000372638,NM_133467.2;AC119677.1,upstream_gene_variant,,ENST00000414199,;,regulatory_region_variant,,ENSR00000005267,; G ENSG00000179862 ENST00000372638 Transcript missense_variant 552/1316 313/555 105/184 N/H Aac/Cac 1 -1 CITED4 HGNC HGNC:18696 protein_coding YES CCDS458.1 ENSP00000361721 Q96RK1 UPI000004241F NM_133467.2 tolerated(0.13) benign(0.202) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR17045:SF5,hmmpanther:PTHR17045 MODERATE SNV PASS TTG . . 40861815 HYI . GRCh38 chr1 43453632 43453632 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.162A>C p.Glu54Asp p.E54D ENST00000372434 1/9 93 70 15 42 41 0 HYI,missense_variant,p.Glu54Asp,ENST00000583037,NM_001243526.1,NM_001330526.1;HYI,missense_variant,p.Glu54Asp,ENST00000372425,NM_001190880.2;HYI,missense_variant,p.Glu54Asp,ENST00000372432,NM_031207.5;HYI,missense_variant,p.Glu54Asp,ENST00000372434,;HYI,missense_variant,p.Glu54Asp,ENST00000486909,;HYI,missense_variant,p.Glu15Asp,ENST00000372430,;HYI,missense_variant,p.Glu29Asp,ENST00000372433,;SZT2,3_prime_UTR_variant,,ENST00000562955,NM_015284.3;HYI,upstream_gene_variant,,ENST00000470662,;HYI,upstream_gene_variant,,ENST00000487366,;SZT2,downstream_gene_variant,,ENST00000634258,;SZT2-AS1,upstream_gene_variant,,ENST00000396885,;HYI-AS1,upstream_gene_variant,,ENST00000444386,;HYI,non_coding_transcript_exon_variant,,ENST00000372427,;HYI,non_coding_transcript_exon_variant,,ENST00000469587,;SZT2,downstream_gene_variant,,ENST00000460536,;HYI,upstream_gene_variant,,ENST00000483618,;HYI,upstream_gene_variant,,ENST00000496142,;SZT2,downstream_gene_variant,,ENST00000638263,;SZT2,downstream_gene_variant,,ENST00000640484,;,regulatory_region_variant,,ENSR00000005594,; G ENSG00000178922 ENST00000372434 Transcript missense_variant 194/1025 162/909 54/302 E/D gaA/gaC 1 -1 HYI HGNC HGNC:26948 protein_coding YES CCDS81313.1 ENSP00000361511 F6UJY1 UPI000268AE2F tolerated(0.68) benign(0.007) 1/9 Gene3D:3.20.20.150,Pfam_domain:PF01261,PIRSF_domain:PIRSF006241,hmmpanther:PTHR43489,hmmpanther:PTHR43489:SF6,Superfamily_domains:SSF51658,Low_complexity_(Seg):seg MODERATE SNV 5 PASS CTT . . 43453632 ARTN . GRCh38 chr1 43936398 43936398 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.320T>G p.Leu107Arg p.L107R ENST00000414809 5/5 104 73 22 40 39 0 ARTN,missense_variant,p.Leu107Arg,ENST00000414809,NM_057090.2;ARTN,missense_variant,p.Leu99Arg,ENST00000372359,NM_057091.2;ARTN,missense_variant,p.Leu107Arg,ENST00000498139,NM_001136215.1;ARTN,missense_variant,p.Leu99Arg,ENST00000372354,;ARTN,missense_variant,p.Leu116Arg,ENST00000438616,;ARTN,downstream_gene_variant,,ENST00000471394,;ARTN,downstream_gene_variant,,ENST00000472435,;ARTN,downstream_gene_variant,,ENST00000474592,;ARTN,downstream_gene_variant,,ENST00000477048,;ARTN,downstream_gene_variant,,ENST00000479128,;ARTN,downstream_gene_variant,,ENST00000491846,;,regulatory_region_variant,,ENSR00000251520,; G ENSG00000117407 ENST00000414809 Transcript missense_variant 1102/1943 320/687 107/228 L/R cTt/cGt 1 1 ARTN HGNC HGNC:727 protein_coding YES CCDS502.1 ENSP00000387435 Q5T4W7 UPI00001AFA84 NM_057090.2 tolerated(0.61) benign(0.001) 5/5 hmmpanther:PTHR12173,hmmpanther:PTHR12173:SF9,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 3 PASS CTT . . 43936398 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 84 60 10 22 21 0 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 FOXE3 . GRCh38 chr1 47416352 47416352 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.37T>G p.Phe13Val p.F13V ENST00000335071 1/1 92 80 12 35 35 0 FOXE3,missense_variant,p.Phe13Val,ENST00000335071,NM_012186.2; G ENSG00000186790 ENST00000335071 Transcript missense_variant 281/1981 37/960 13/319 F/V Ttc/Gtc 1 1 FOXE3 HGNC HGNC:3808 protein_coding YES CCDS550.1 ENSP00000334472 Q13461 A0A0A1EII5 UPI000012ADD3 NM_012186.2 deleterious_low_confidence(0.03) benign(0.007) 1/1 mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 47416352 AC239809.3 . GRCh38 chr1 148228070 148228070 + Splice_Site SNP C C A rs1303904242 7316-156 BS_S0WS43HJ C C n.170-1G>T ENST00000464343 110 92 17 53 53 0 AC239809.3,splice_acceptor_variant,,ENST00000464343,;AC239809.3,splice_acceptor_variant,,ENST00000611286,;AC239809.3,splice_acceptor_variant,,ENST00000611617,;AC239809.3,splice_acceptor_variant,,ENST00000616018,;AC239809.3,splice_acceptor_variant,,ENST00000620213,;AC239809.3,splice_acceptor_variant,,ENST00000629702,;AC239809.3,splice_acceptor_variant,,ENST00000634551,;AC239809.3,non_coding_transcript_exon_variant,,ENST00000611452,;AC239809.3,intron_variant,,ENST00000628063,;AC239809.3,upstream_gene_variant,,ENST00000622642,; A ENSG00000227733 ENST00000464343 Transcript splice_acceptor_variant,non_coding_transcript_variant rs1303904242 1 -1 AC239809.3 Clone_based_ensembl_gene lincRNA 1/4 HIGH SNV 5 PASS CCT . . 148228070 FLG . GRCh38 chr1 152304991 152304991 + Missense_Mutation SNP C C T rs1383626477 7316-156 BS_S0WS43HJ C C c.9895G>A p.Gly3299Arg p.G3299R ENST00000368799 3/3 86 66 19 43 43 0 FLG,missense_variant,p.Gly3299Arg,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,; T ENSG00000143631 ENST00000368799 Transcript missense_variant 9931/12747 9895/12186 3299/4061 G/R Gga/Aga rs1383626477 1 -1 FLG HGNC HGNC:3748 protein_coding YES CCDS30860.1 ENSP00000357789 P20930 UPI0000470CB3 NM_002016.1 tolerated(1) probably_damaging(1) 3/3 mobidb-lite,Pfam_domain:PF03516,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF45 MODERATE 1 SNV 1 1 PASS CCT . . 152304991 FLG2 . GRCh38 chr1 152352111 152352111 + Missense_Mutation SNP C C A rs1292844325 7316-156 BS_S0WS43HJ C C c.5675G>T p.Gly1892Val p.G1892V ENST00000388718 3/3 78 70 7 32 30 0 FLG2,missense_variant,p.Gly1892Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 5748/9124 5675/7176 1892/2391 G/V gGc/gTc rs1292844325,COSM6264550 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCC . . 152352111 LOR . GRCh38 chr1 153261379 153261379 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.430T>G p.Phe144Val p.F144V ENST00000368742 2/2 79 62 8 30 27 0 LOR,missense_variant,p.Phe144Val,ENST00000368742,NM_000427.2;,regulatory_region_variant,,ENSR00000013778,; G ENSG00000203782 ENST00000368742 Transcript missense_variant 487/1230 430/939 144/312 F/V Ttc/Gtc 1 1 LOR HGNC HGNC:6663 protein_coding YES CCDS30870.1 ENSP00000357731 P23490 UPI0000470BBD NM_000427.2 benign(0.021) 2/2 Low_complexity_(Seg):seg,hmmpanther:PTHR39228,Pfam_domain:PF15847,Prints_domain:PR01228 MODERATE 1 SNV 1 1 PASS CTT . . 153261379 MUC1 . GRCh38 chr1 155191904 155191904 + Splice_Region SNP C C G rs1187393916 7316-156 BS_S0WS43HJ C C c.461+4G>C ENST00000612778 41 27 8 19 16 0 MUC1,splice_region_variant,,ENST00000612778,NM_001204286.1;MUC1,splice_region_variant,,ENST00000620103,NM_001204285.1;MUC1,synonymous_variant,p.Pro146=,ENST00000611571,;MUC1,intron_variant,,ENST00000337604,NM_001204287.1,NM_002456.5;MUC1,intron_variant,,ENST00000338684,NM_001204291.1,NM_001204289.1;MUC1,intron_variant,,ENST00000342482,;MUC1,intron_variant,,ENST00000343256,NM_001204296.1,NM_001044390.2;MUC1,intron_variant,,ENST00000368389,NM_001204297.1;MUC1,intron_variant,,ENST00000368390,NM_001018017.2;MUC1,intron_variant,,ENST00000368392,NM_001204288.1,NM_001018016.2;MUC1,intron_variant,,ENST00000368393,NM_001204293.1;MUC1,intron_variant,,ENST00000368396,NM_001044391.2,NM_001044392.2;MUC1,intron_variant,,ENST00000368398,NM_001204294.1;MUC1,intron_variant,,ENST00000438413,NM_001204290.1;MUC1,intron_variant,,ENST00000457295,;MUC1,intron_variant,,ENST00000462215,;MUC1,intron_variant,,ENST00000471283,NM_001044393.2;MUC1,intron_variant,,ENST00000610359,NM_001204292.1;MUC1,intron_variant,,ENST00000611577,;MUC1,intron_variant,,ENST00000614519,;MUC1,intron_variant,,ENST00000615517,NM_001204295.1;THBS3,downstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,downstream_gene_variant,,ENST00000457183,NM_001252608.1;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000485118,;THBS3,downstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,downstream_gene_variant,,ENST00000541990,;MIR92B,upstream_gene_variant,,ENST00000607575,;AC234582.1,upstream_gene_variant,,ENST00000447623,;MUC1,downstream_gene_variant,,ENST00000466913,;MUC1,non_coding_transcript_exon_variant,,ENST00000620770,;MUC1,intron_variant,,ENST00000467134,;MUC1,intron_variant,,ENST00000498431,;MUC1,intron_variant,,ENST00000610468,;MUC1,upstream_gene_variant,,ENST00000468978,;THBS3,downstream_gene_variant,,ENST00000469769,;AL713999.1,upstream_gene_variant,,ENST00000473363,;THBS3,downstream_gene_variant,,ENST00000498500,;,regulatory_region_variant,,ENSR00000014040,; G ENSG00000185499 ENST00000612778 Transcript splice_region_variant,intron_variant rs1187393916 1 -1 MUC1 HGNC HGNC:7508 protein_coding YES CCDS72933.1 ENSP00000484824 A0A087X2A4 UPI000059C524 NM_001204286.1 2/7 LOW SNV 5 1 PASS CCG . . 1.562e-05 7.155e-05 155191904 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 109 88 19 40 39 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 NENF . GRCh38 chr1 212432944 212432944 + Translation_Start_Site SNP A A C novel 7316-156 BS_S0WS43HJ A A c.1A>C p.Met1? p.M1? ENST00000366988 1/4 75 56 16 29 29 0 NENF,start_lost,p.Met1?,ENST00000366988,NM_013349.4;NENF,non_coding_transcript_exon_variant,,ENST00000479589,;NENF,upstream_gene_variant,,ENST00000472389,;NENF,upstream_gene_variant,,ENST00000473900,;,regulatory_region_variant,,ENSR00000019704,; C ENSG00000117691 ENST00000366988 Transcript start_lost 58/949 1/519 1/172 M/L Atg/Ctg 1 1 NENF HGNC HGNC:30384 protein_coding YES CCDS1505.1 ENSP00000355955 Q9UMX5 UPI000006E19B NM_013349.4 deleterious_low_confidence(0.05) benign(0.001) 1/4 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF39 HIGH 1 SNV 1 PASS CAT . . 212432944 PPM1G . GRCh38 chr2 27409308 27409308 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.115A>C p.Met39Leu p.M39L ENST00000344034 1/10 130 113 13 36 36 0 PPM1G,missense_variant,p.Met39Leu,ENST00000344034,NM_177983.2;PPM1G,non_coding_transcript_exon_variant,,ENST00000472077,;PPM1G,non_coding_transcript_exon_variant,,ENST00000484925,;,regulatory_region_variant,,ENSR00000114421,; G ENSG00000115241 ENST00000344034 Transcript missense_variant 380/2311 115/1641 39/546 M/L Atg/Ctg 1 -1 PPM1G HGNC HGNC:9278 protein_coding YES CCDS1752.1 ENSP00000342778 O15355 Q6IAU5 UPI000000106E NM_177983.2 tolerated(0.46) possibly_damaging(0.59) 1/10 Gene3D:3.60.40.10,Pfam_domain:PF00481,PROSITE_profiles:PS51746,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF544,SMART_domains:SM00332,Superfamily_domains:SSF81606,cd00143 MODERATE 1 SNV 1 PASS ATG . . 27409308 GFPT1 . GRCh38 chr2 69387070 69387070 + Translation_Start_Site SNP A A C rs1416585953 7316-156 BS_S0WS43HJ A A c.2T>G p.Met1? p.M1? ENST00000357308 1/20 124 99 16 41 41 0 GFPT1,start_lost,p.Met1?,ENST00000357308,NM_001244710.1;GFPT1,start_lost,p.Met1?,ENST00000361060,NM_002056.3;GFPT1,non_coding_transcript_exon_variant,,ENST00000494201,;,regulatory_region_variant,,ENSR00000118552,; C ENSG00000198380 ENST00000357308 Transcript start_lost 185/8703 2/2100 1/699 M/R aTg/aGg rs1416585953,CD136904 1 -1 GFPT1 HGNC HGNC:4241 protein_coding YES CCDS58713.1 ENSP00000349860 Q06210 UPI000015C8AD NM_001244710.1 deleterious(0) benign(0.432) 1/20 hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF2 HIGH 1 SNV 5 0,1 1 PASS CAT . . 7.665e-06 2.031e-05 69387070 POU3F3 . GRCh38 chr2 104856069 104856069 + Missense_Mutation SNP T T G rs933481907 7316-156 BS_S0WS43HJ T T c.559T>G p.Trp187Gly p.W187G ENST00000361360 1/1 67 43 16 30 25 1 POU3F3,missense_variant,p.Trp187Gly,ENST00000361360,NM_006236.2;LINC01158,upstream_gene_variant,,ENST00000413121,;AC018730.2,intron_variant,,ENST00000598623,;LINC01158,upstream_gene_variant,,ENST00000443988,;LINC01158,upstream_gene_variant,,ENST00000447876,;LINC01158,upstream_gene_variant,,ENST00000454729,;LINC01158,upstream_gene_variant,,ENST00000458253,;,regulatory_region_variant,,ENSR00000121121,; G ENSG00000198914 ENST00000361360 Transcript missense_variant 559/3064 559/1503 187/500 W/G Tgg/Ggg rs933481907,COSM5038149 1 1 POU3F3 HGNC HGNC:9216 protein_coding YES CCDS33265.1 ENSP00000355001 P20264 UPI0000131D87 NM_006236.2 deleterious_low_confidence(0) possibly_damaging(0.901) 1/1 Low_complexity_(Seg):seg,mobidb-lite,PIRSF_domain:PIRSF002629,hmmpanther:PTHR11636:SF117,hmmpanther:PTHR11636 0,1 MODERATE SNV 0,1 PASS CTG . . 104856069 AC134915.1 . GRCh38 chr2 130248649 130248649 + Splice_Site SNP C C T rs879029290 7316-156 BS_S0WS43HJ C C n.455-2C>T ENST00000426461 109 99 9 43 42 0 AC134915.1,splice_acceptor_variant,,ENST00000426461,;MED15P5,upstream_gene_variant,,ENST00000423150,; T ENSG00000234398 ENST00000426461 Transcript splice_acceptor_variant,non_coding_transcript_variant rs879029290 1 1 AC134915.1 Clone_based_ensembl_gene unprocessed_pseudogene YES 4/4 HIGH 1 SNV PASS TCT . . 130248649 NBEAL1 . GRCh38 chr2 203107414 203107414 + Splice_Region SNP C C T rs1403919428 7316-156 BS_S0WS43HJ C C c.1183-6C>T ENST00000449802 74 61 12 41 41 0 NBEAL1,splice_region_variant,,ENST00000449802,NM_001114132.1; T ENSG00000144426 ENST00000449802 Transcript splice_region_variant,intron_variant rs1403919428 1 1 NBEAL1 HGNC HGNC:20681 protein_coding YES CCDS46495.1 ENSP00000399903 Q6ZS30 UPI000194EC27 NM_001114132.1 11/54 LOW 1 SNV 5 PASS CCC . . 203107414 ATIC . GRCh38 chr2 215319706 215319706 + Missense_Mutation SNP G G A rs374183545 7316-156 BS_S0WS43HJ G G c.265G>A p.Ala89Thr p.A89T ENST00000236959 4/16 82 67 15 53 52 0 ATIC,missense_variant,p.Ala88Thr,ENST00000435675,;ATIC,missense_variant,p.Ala89Thr,ENST00000236959,NM_004044.6;ATIC,missense_variant,p.Ala30Thr,ENST00000413174,;ATIC,3_prime_UTR_variant,,ENST00000443953,;ATIC,3_prime_UTR_variant,,ENST00000427397,;ATIC,non_coding_transcript_exon_variant,,ENST00000488712,;ATIC,intron_variant,,ENST00000444305,; A ENSG00000138363 ENST00000236959 Transcript missense_variant 591/2213 265/1779 89/592 A/T Gcc/Acc rs374183545 1 1 ATIC HGNC HGNC:794 protein_coding YES CCDS2398.1 ENSP00000236959 P31939 V9HWH7 UPI000000122D NM_004044.6 tolerated(0.36) benign(0.003) 4/16 HAMAP:MF_00139,cd01421,hmmpanther:PTHR11692,Gene3D:3.40.50.1380,TIGRFAM_domain:TIGR00355,PIRSF_domain:PIRSF000414,Pfam_domain:PF02142,SMART_domains:SM00851,Superfamily_domains:SSF52335 0.0001163 MODERATE 1 SNV 1 1 PASS GGC . . 8.125e-06 1.792e-05 215319706 ATIC . GRCh38 chr2 215334913 215334913 + Splice_Region SNP T T A novel 7316-156 BS_S0WS43HJ T T c.923-6T>A ENST00000236959 89 60 27 40 40 0 ATIC,splice_region_variant,,ENST00000236959,NM_004044.6;ATIC,splice_region_variant,,ENST00000435675,;ATIC,upstream_gene_variant,,ENST00000426233,;ATIC,upstream_gene_variant,,ENST00000446622,;ATIC,splice_region_variant,,ENST00000427397,;ATIC,splice_region_variant,,ENST00000443953,;ATIC,upstream_gene_variant,,ENST00000459796,;ATIC,upstream_gene_variant,,ENST00000467388,;ATIC,upstream_gene_variant,,ENST00000479093,; A ENSG00000138363 ENST00000236959 Transcript splice_region_variant,intron_variant 1 1 ATIC HGNC HGNC:794 protein_coding YES CCDS2398.1 ENSP00000236959 P31939 V9HWH7 UPI000000122D NM_004044.6 9/15 LOW 1 SNV 1 1 PASS TTT . . 215334913 B3GNT7 . GRCh38 chr2 231395805 231395805 + Translation_Start_Site SNP T T G novel 7316-156 BS_S0WS43HJ T T c.2T>G p.Met1? p.M1? ENST00000287590 1/2 94 65 12 36 36 0 B3GNT7,start_lost,p.Met1?,ENST00000287590,NM_145236.2;AC017104.1,downstream_gene_variant,,ENST00000415129,;AC017104.1,downstream_gene_variant,,ENST00000454416,;B3GNT7,upstream_gene_variant,,ENST00000479618,;AC017104.1,downstream_gene_variant,,ENST00000418050,;,regulatory_region_variant,,ENSR00000131820,; G ENSG00000156966 ENST00000287590 Transcript start_lost 263/3706 2/1206 1/401 M/R aTg/aGg 1 1 B3GNT7 HGNC HGNC:18811 protein_coding YES CCDS46540.1 ENSP00000287590 Q8NFL0 UPI000006D18A NM_145236.2 deleterious_low_confidence(0) benign(0.059) 1/2 HIGH 1 SNV 1 PASS ATG . . 231395805 ESPNL . GRCh38 chr2 238125303 238125303 + Missense_Mutation SNP T T G 7316-156 BS_S0WS43HJ T T c.1021T>G p.Phe341Val p.F341V ENST00000343063 6/9 120 105 12 43 42 0 ESPNL,missense_variant,p.Phe341Val,ENST00000343063,NM_194312.3;ESPNL,missense_variant,p.Phe297Val,ENST00000409169,;ESPNL,5_prime_UTR_variant,,ENST00000612395,;ESPNL,upstream_gene_variant,,ENST00000409506,NM_001308370.1;ESPNL,upstream_gene_variant,,ENST00000423032,;ESPNL,upstream_gene_variant,,ENST00000477241,; G ENSG00000144488 ENST00000343063 Transcript missense_variant 1284/4836 1021/3018 341/1005 F/V Ttc/Gtc COSM5958755 1 1 ESPNL HGNC HGNC:27937 protein_coding YES CCDS2525.1 ENSP00000339115 Q6ZVH7 UPI000022BC90 NM_194312.3 tolerated(0.29) benign(0.164) 6/9 hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF0,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 2 1 PASS GTT . . 238125303 RFTN1 . GRCh38 chr3 16513444 16513444 + Splice_Region SNP T T G novel 7316-156 BS_S0WS43HJ T T c.-11A>C ENST00000334133 1/10 103 87 11 40 38 0 RFTN1,splice_region_variant,,ENST00000334133,NM_015150.1;RFTN1,intron_variant,,ENST00000431547,;RFTN1,upstream_gene_variant,,ENST00000441460,;RFTN1,upstream_gene_variant,,ENST00000449415,;RFTN1,upstream_gene_variant,,ENST00000451036,;RFTN1,splice_region_variant,,ENST00000453536,;,regulatory_region_variant,,ENSR00000149264,; G ENSG00000131378 ENST00000334133 Transcript splice_region_variant,5_prime_UTR_variant 263/2982 1 -1 RFTN1 HGNC HGNC:30278 protein_coding YES CCDS33712.1 ENSP00000334153 Q14699 UPI00001C1DE7 NM_015150.1 1/10 LOW 1 SNV 1 PASS GTA . . 16513444 P4HTM . GRCh38 chr3 48990369 48990369 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.113T>G p.Leu38Arg p.L38R ENST00000343546 1/9 104 84 17 31 31 0 P4HTM,missense_variant,p.Leu38Arg,ENST00000343546,NM_177938.2;P4HTM,missense_variant,p.Leu38Arg,ENST00000383729,NM_177939.2;P4HTM,missense_variant,p.Leu11Arg,ENST00000475629,;ARIH2,downstream_gene_variant,,ENST00000356401,NM_006321.3,NM_001317334.1;P4HTM,upstream_gene_variant,,ENST00000444213,;AC137630.4,upstream_gene_variant,,ENST00000609473,;AC137630.1,upstream_gene_variant,,ENST00000452042,;P4HTM,non_coding_transcript_exon_variant,,ENST00000609406,;P4HTM,upstream_gene_variant,,ENST00000468374,;P4HTM,non_coding_transcript_exon_variant,,ENST00000484115,;P4HTM,non_coding_transcript_exon_variant,,ENST00000472301,;,regulatory_region_variant,,ENSR00000152172,; G ENSG00000178467 ENST00000343546 Transcript missense_variant 481/2268 113/1692 38/563 L/R cTg/cGg 1 1 P4HTM HGNC HGNC:28858 protein_coding YES CCDS2781.2 ENSP00000341422 Q9NXG6 UPI0000209C68 NM_177938.2 tolerated_low_confidence(0.45) benign(0.174) 1/9 MODERATE 1 SNV 1 PASS CTG . . 48990369 RBM5 . GRCh38 chr3 50115441 50115441 + Missense_Mutation SNP C C T novel 7316-156 BS_S0WS43HJ C C c.1853C>T p.Ala618Val p.A618V ENST00000347869 21/25 83 64 18 45 44 0 RBM5,missense_variant,p.Ala618Val,ENST00000347869,NM_005778.3;SEMA3F-AS1,downstream_gene_variant,,ENST00000425674,;SEMA3F-AS1,downstream_gene_variant,,ENST00000437204,;RBM5,downstream_gene_variant,,ENST00000441812,;RBM5,downstream_gene_variant,,ENST00000474470,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000479275,;RBM5,non_coding_transcript_exon_variant,,ENST00000475128,;RBM5,non_coding_transcript_exon_variant,,ENST00000464988,;RBM5,non_coding_transcript_exon_variant,,ENST00000475590,;RBM5,non_coding_transcript_exon_variant,,ENST00000492430,;RBM5,upstream_gene_variant,,ENST00000461242,;RBM5,downstream_gene_variant,,ENST00000474818,;RBM5,downstream_gene_variant,,ENST00000489437,;RBM5,downstream_gene_variant,,ENST00000493993,; T ENSG00000003756 ENST00000347869 Transcript missense_variant 2028/3188 1853/2448 618/815 A/V gCt/gTt 1 1 RBM5 HGNC HGNC:9902 protein_coding YES CCDS2810.1 ENSP00000343054 P52756 A0A024R2U6 UPI000013337C NM_005778.3 deleterious(0.01) probably_damaging(0.965) 21/25 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF21 MODERATE 1 SNV 1 PASS GCT . . 50115441 DOCK3 . GRCh38 chr3 50675298 50675298 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.35T>G p.Val12Gly p.V12G ENST00000266037 1/53 90 76 11 51 49 2 DOCK3,missense_variant,p.Val12Gly,ENST00000266037,NM_004947.4;MIR4787,downstream_gene_variant,,ENST00000607364,;LINC02019,downstream_gene_variant,,ENST00000608605,;LINC02019,downstream_gene_variant,,ENST00000609204,;,regulatory_region_variant,,ENSR00000152403,; G ENSG00000088538 ENST00000266037 Transcript missense_variant,splice_region_variant 58/8755 35/6093 12/2030 V/G gTa/gGa 1 1 DOCK3 HGNC HGNC:2989 protein_coding YES CCDS46835.1 ENSP00000266037 Q8IZD9 UPI000007412C NM_004947.4 deleterious(0) benign(0.372) 1/53 PROSITE_profiles:PS50002,cd12048,hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044 MODERATE 1 SNV 1 PASS GTA . . 50675298 EBLN2 . GRCh38 chr3 73062400 73062400 + Missense_Mutation SNP G G A novel 7316-156 BS_S0WS43HJ G G c.319G>A p.Ala107Thr p.A107T ENST00000533473 1/1 71 47 24 41 41 0 EBLN2,missense_variant,p.Ala107Thr,ENST00000533473,NM_018029.4;PPP4R2,intron_variant,,ENST00000356692,NM_001318027.1,NM_174907.3,NM_001318025.1,NM_001318026.1;PPP4R2,intron_variant,,ENST00000488810,;PPP4R2,upstream_gene_variant,,ENST00000460360,;PPP4R2,downstream_gene_variant,,ENST00000476505,;PPP4R2,intron_variant,,ENST00000482242,;PPP4R2,downstream_gene_variant,,ENST00000470976,; A ENSG00000255423 ENST00000533473 Transcript missense_variant 742/1679 319/819 107/272 A/T Gcc/Acc 1 1 EBLN2 HGNC HGNC:25493 protein_coding YES CCDS54608.1 ENSP00000432104 Q6P2I7 UPI0000231C2D NM_018029.4 tolerated(0.27) benign(0.001) 1/1 Gene3D:1.10.3040.10,Pfam_domain:PF06407,Superfamily_domains:SSF101399,Low_complexity_(Seg):seg MODERATE SNV PASS AGC . . 73062400 PLXNA1 . GRCh38 chr3 127004980 127004980 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.1715A>C p.Asn572Thr p.N572T ENST00000393409 5/31 103 94 7 22 22 0 PLXNA1,missense_variant,p.Asn572Thr,ENST00000393409,NM_032242.3; C ENSG00000114554 ENST00000393409 Transcript missense_variant 1715/9066 1715/5691 572/1896 N/T aAt/aCt 1 1 PLXNA1 HGNC HGNC:9099 protein_coding YES CCDS33847.2 ENSP00000377061 Q9UIW2 UPI00001A7983 NM_032242.3 tolerated(0.06) benign(0.023) 5/31 hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Gene3D:3.30.1680.10 MODERATE 1 SNV 1 PASS AAT . . 127004980 MUC4 . GRCh38 chr3 195786548 195786548 + Missense_Mutation SNP C C T rs370273377 7316-156 BS_S0WS43HJ C C c.5032G>A p.Ala1678Thr p.A1678T ENST00000463781 2/25 57 43 5 45 44 0 MUC4,missense_variant,p.Ala1678Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala1678Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala1678Thr,ENST00000478156,;MUC4,missense_variant,p.Ala1678Thr,ENST00000466475,;MUC4,missense_variant,p.Ala1678Thr,ENST00000477756,;MUC4,missense_variant,p.Ala1678Thr,ENST00000477086,;MUC4,missense_variant,p.Ala1678Thr,ENST00000480843,;MUC4,missense_variant,p.Ala1678Thr,ENST00000462323,;MUC4,missense_variant,p.Ala1678Thr,ENST00000470451,;MUC4,missense_variant,p.Ala1678Thr,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 5492/17110 5032/16239 1678/5412 A/T Gcc/Acc rs370273377 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.45) possibly_damaging(0.494) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0.0004 0.0014 0.001 MODERATE 1 SNV 5 1 PASS GCG . . 8.597e-05 0.0001298 8.527e-05 0.0001981 8.565e-05 0.0005099 4.44e-05 195786548 MUC4 . GRCh38 chr3 195788181 195788181 + Missense_Mutation SNP G G C rs747366842 7316-156 BS_S0WS43HJ G G c.3399C>G p.His1133Gln p.H1133Q ENST00000463781 2/25 59 46 11 38 36 0 MUC4,missense_variant,p.His1133Gln,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His1133Gln,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His1133Gln,ENST00000478156,;MUC4,missense_variant,p.His1133Gln,ENST00000466475,;MUC4,missense_variant,p.His1133Gln,ENST00000477756,;MUC4,missense_variant,p.His1133Gln,ENST00000477086,;MUC4,missense_variant,p.His1133Gln,ENST00000480843,;MUC4,missense_variant,p.His1133Gln,ENST00000462323,;MUC4,missense_variant,p.His1133Gln,ENST00000470451,;MUC4,missense_variant,p.His1133Gln,ENST00000479406,;,regulatory_region_variant,,ENSR00000308220,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 3859/17110 3399/16239 1133/5412 H/Q caC/caG rs747366842,COSM1042942 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.23) possibly_damaging(0.702) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGT . . 7.149e-06 4.27e-05 195788181 SAP30 . GRCh38 chr4 173371283 173371283 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.101A>C p.Asn34Thr p.N34T ENST00000296504 1/4 71 52 16 38 37 0 SAP30,missense_variant,p.Asn34Thr,ENST00000296504,NM_003864.3;AC097534.2,upstream_gene_variant,,ENST00000608794,;AC097534.2,upstream_gene_variant,,ENST00000608892,;AC097534.2,upstream_gene_variant,,ENST00000609153,;AC097534.2,upstream_gene_variant,,ENST00000609900,;SAP30,downstream_gene_variant,,ENST00000504618,;,regulatory_region_variant,,ENSR00000176229,; C ENSG00000164105 ENST00000296504 Transcript missense_variant 341/1108 101/663 34/220 N/T aAc/aCc 1 1 SAP30 HGNC HGNC:10532 protein_coding YES CCDS3817.1 ENSP00000296504 O75446 UPI000006F36D NM_003864.3 tolerated_low_confidence(0.28) benign(0.003) 1/4 Low_complexity_(Seg):seg,hmmpanther:PTHR13286,hmmpanther:PTHR13286:SF7 MODERATE 1 SNV 1 PASS AAC . . 173371283 STOX2 . GRCh38 chr4 184010814 184010814 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.1976A>C p.Lys659Thr p.K659T ENST00000308497 3/4 90 81 8 42 41 0 STOX2,missense_variant,p.Lys659Thr,ENST00000308497,NM_020225.2;STOX2,missense_variant,p.Lys15Thr,ENST00000506529,;STOX2,intron_variant,,ENST00000513034,;AC074194.2,upstream_gene_variant,,ENST00000636429,;STOX2,downstream_gene_variant,,ENST00000512520,; C ENSG00000173320 ENST00000308497 Transcript missense_variant 3411/10458 1976/2781 659/926 K/T aAa/aCa 1 1 STOX2 HGNC HGNC:25450 protein_coding YES CCDS47167.1 ENSP00000311257 Q9P2F5 UPI00001C1E11 NM_020225.2 deleterious_low_confidence(0.01) benign(0) 3/4 hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 184010814 IRX1 . GRCh38 chr5 3596164 3596164 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.59A>C p.Tyr20Ser p.Y20S ENST00000302006 1/4 73 59 13 38 37 0 IRX1,missense_variant,p.Tyr20Ser,ENST00000302006,NM_024337.3;AC016595.1,downstream_gene_variant,,ENST00000559410,; C ENSG00000170549 ENST00000302006 Transcript missense_variant 111/1858 59/1443 20/480 Y/S tAc/tCc 1 1 IRX1 HGNC HGNC:14358 protein_coding YES CCDS34132.1 ENSP00000305244 P78414 UPI00001B6455 NM_024337.3 deleterious(0.01) probably_damaging(0.991) 1/4 hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211 MODERATE 1 SNV 1 PASS TAC . . 3596164 TRIO . GRCh38 chr5 14358170 14358170 + Splice_Region SNP T T G rs771981224 7316-156 BS_S0WS43HJ T T c.2047-8T>G ENST00000344204 65 52 12 41 38 0 TRIO,splice_region_variant,,ENST00000344204,NM_007118.3;TRIO,splice_region_variant,,ENST00000509967,;TRIO,splice_region_variant,,ENST00000513206,;TRIO,splice_region_variant,,ENST00000512070,;TRIO,splice_region_variant,,ENST00000515144,; G ENSG00000038382 ENST00000344204 Transcript splice_region_variant,intron_variant rs771981224 1 1 TRIO HGNC HGNC:12303 protein_coding YES CCDS3883.1 ENSP00000339299 O75962 UPI000034ECE6 NM_007118.3 11/56 LOW 1 SNV 1 1 PASS CTT . . 4.105e-06 3.268e-05 14358170 FOXD1 . GRCh38 chr5 73447173 73447173 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.1190T>G p.Val397Gly p.V397G ENST00000615637 1/1 49 35 10 30 29 0 FOXD1,missense_variant,p.Val397Gly,ENST00000615637,NM_004472.2;LINC01385,upstream_gene_variant,,ENST00000512310,;FOXD1-AS1,downstream_gene_variant,,ENST00000514661,;FOXD1,upstream_gene_variant,,ENST00000513595,;,regulatory_region_variant,,ENSR00000182415,; C ENSG00000251493 ENST00000615637 Transcript missense_variant 1355/2272 1190/1398 397/465 V/G gTg/gGg 1 -1 FOXD1 HGNC HGNC:3802 protein_coding YES CCDS75259.1 ENSP00000481581 Q16676 UPI000012ADC8 NM_004472.2 tolerated_low_confidence(0.09) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11829:SF329,hmmpanther:PTHR11829 MODERATE SNV PASS CAC . . 73447173 PCDHA4 . GRCh38 chr5 140808469 140808469 + Nonsense_Mutation SNP C C T rs559892183 7316-156 BS_S0WS43HJ C C c.1282C>T p.Arg428Ter p.R428* ENST00000530339 1/4 87 60 24 31 31 0 PCDHA4,stop_gained,p.Arg428Ter,ENST00000618834,NM_031500.2;PCDHA4,stop_gained,p.Arg428Ter,ENST00000530339,NM_018907.3;PCDHA4,stop_gained,p.Arg428Ter,ENST00000512229,;PCDHA4,stop_gained,p.Arg427Ter,ENST00000378125,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.1;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;AC005609.5,intron_variant,,ENST00000624712,;,regulatory_region_variant,,ENSR00000317550,; T ENSG00000204967 ENST00000530339 Transcript stop_gained 1282/5251 1282/2844 428/947 R/* Cga/Tga rs559892183,COSM736309,COSM736308 1 1 PCDHA4 HGNC HGNC:8670 protein_coding YES CCDS54916.1 ENSP00000435300 Q9UN74 UPI00001273CC NM_018907.3 1/4 Gene3D:2.60.350.10,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 0.0002 0.001 0,1,1 HIGH 1 SNV 1 0,1,1 PASS GCG . . 0.0001543 0.002145 8.953e-06 140808469 LTC4S . GRCh38 chr5 179796329 179796329 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.388T>G p.Phe130Val p.F130V ENST00000292596 5/5 96 80 15 42 42 0 LTC4S,missense_variant,p.Phe130Val,ENST00000292596,NM_145867.1;LTC4S,missense_variant,p.Phe73Val,ENST00000401985,;MGAT4B,downstream_gene_variant,,ENST00000292591,NM_014275.4;MGAT4B,downstream_gene_variant,,ENST00000337755,NM_054013.3;LTC4S,downstream_gene_variant,,ENST00000486713,;MGAT4B,downstream_gene_variant,,ENST00000518778,;MGAT4B,downstream_gene_variant,,ENST00000518867,;MGAT4B,downstream_gene_variant,,ENST00000518980,;MGAT4B,downstream_gene_variant,,ENST00000519836,;MGAT4B,downstream_gene_variant,,ENST00000520875,;MGAT4B,downstream_gene_variant,,ENST00000520969,;MGAT4B,downstream_gene_variant,,ENST00000523108,;MIR1229,downstream_gene_variant,,ENST00000408467,;MGAT4B,downstream_gene_variant,,ENST00000521305,;MGAT4B,downstream_gene_variant,,ENST00000522293,;MGAT4B,downstream_gene_variant,,ENST00000523382,;LTC4S,3_prime_UTR_variant,,ENST00000505170,;LTC4S,non_coding_transcript_exon_variant,,ENST00000465572,;LTC4S,non_coding_transcript_exon_variant,,ENST00000509898,;LTC4S,downstream_gene_variant,,ENST00000466071,;LTC4S,downstream_gene_variant,,ENST00000510544,;MGAT4B,downstream_gene_variant,,ENST00000518702,;MGAT4B,downstream_gene_variant,,ENST00000520822,;MGAT4B,downstream_gene_variant,,ENST00000520918,;MGAT4B,downstream_gene_variant,,ENST00000521855,;MGAT4B,downstream_gene_variant,,ENST00000522451,;MGAT4B,downstream_gene_variant,,ENST00000523329,;,regulatory_region_variant,,ENSR00000191592,;,TF_binding_site_variant,,MA0062.2,; G ENSG00000213316 ENST00000292596 Transcript missense_variant 483/666 388/453 130/150 F/V Ttc/Gtc 1 1 LTC4S HGNC HGNC:6719 protein_coding YES CCDS34316.1 ENSP00000292596 Q16873 UPI0000043F83 NM_145867.1 deleterious(0.02) possibly_damaging(0.845) 5/5 PDB-ENSP_mappings:2pno.A,PDB-ENSP_mappings:2pno.B,PDB-ENSP_mappings:2pno.C,PDB-ENSP_mappings:2pno.D,PDB-ENSP_mappings:2pno.E,PDB-ENSP_mappings:2pno.F,PDB-ENSP_mappings:2pno.G,PDB-ENSP_mappings:2pno.H,PDB-ENSP_mappings:2pno.I,PDB-ENSP_mappings:2pno.J,PDB-ENSP_mappings:2pno.K,PDB-ENSP_mappings:2pno.L,PDB-ENSP_mappings:2uuh.A,PDB-ENSP_mappings:2uui.A,PDB-ENSP_mappings:3b29.A,PDB-ENSP_mappings:3hkk.A,PDB-ENSP_mappings:3leo.A,PDB-ENSP_mappings:3pcv.A,PDB-ENSP_mappings:4bpm.A,PDB-ENSP_mappings:4j7t.A,PDB-ENSP_mappings:4j7y.A,PDB-ENSP_mappings:4jc7.A,PDB-ENSP_mappings:4jcz.A,PDB-ENSP_mappings:4jrz.A,PDB-ENSP_mappings:4wab.A,PDB-ENSP_mappings:5hv9.A,Low_complexity_(Seg):seg,hmmpanther:PTHR10250:SF4,hmmpanther:PTHR10250,Gene3D:1.20.120.550,Superfamily_domains:SSF161084,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CTT . . 179796329 FOXF2 . GRCh38 chr6 1390800 1390800 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.853A>C p.Met285Leu p.M285L ENST00000645481 1/2 84 65 10 45 44 1 FOXF2,missense_variant,p.Met285Leu,ENST00000645481,;FOXF2,missense_variant,p.Met285Leu,ENST00000259806,NM_001452.1;MIR6720,upstream_gene_variant,,ENST00000611664,; C ENSG00000137273 ENST00000645481 Transcript missense_variant 1225/2447 853/1335 285/444 M/L Atg/Ctg 1 1 FOXF2 HGNC HGNC:3810 protein_coding YES CCDS4472.1 ENSP00000496415 UPI000012ADD6 deleterious(0.04) benign(0.241) 1/2 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF125,mobidb-lite MODERATE 1 SNV PASS CAT . . 1390800 MUCL3 . GRCh38 chr6 30949853 30949853 + Missense_Mutation SNP C C A novel 7316-156 BS_S0WS43HJ C C c.1389C>A p.Asn463Lys p.N463K ENST00000462446 2/3 49 37 6 36 34 0 MUCL3,missense_variant,p.Asn530Lys,ENST00000636043,;MUCL3,missense_variant,p.Asn463Lys,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 1417/5314 1389/4182 463/1393 N/K aaC/aaA 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.49) benign(0) 2/3 mobidb-lite,hmmpanther:PTHR22094,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS ACA . . 30949853 SAPCD1 . GRCh38 chr6 31763119 31763119 + Missense_Mutation SNP C C T rs750348315 7316-156 BS_S0WS43HJ C C c.65C>T p.Pro22Leu p.P22L ENST00000415669 1/5 95 72 22 48 47 0 SAPCD1,missense_variant,p.Pro22Leu,ENST00000415669,NM_001039651.1;SAPCD1,missense_variant,p.Pro22Leu,ENST00000425424,;SAPCD1,missense_variant,p.Pro22Leu,ENST00000433778,;VWA7,downstream_gene_variant,,ENST00000375688,NM_025258.2;MSH5,downstream_gene_variant,,ENST00000375703,NM_172165.3;MSH5,downstream_gene_variant,,ENST00000375740,NM_025259.5;MSH5,downstream_gene_variant,,ENST00000375750,NM_172166.3;MSH5,downstream_gene_variant,,ENST00000375755,NM_002441.4;MSH5,downstream_gene_variant,,ENST00000395853,;MSH5,downstream_gene_variant,,ENST00000429846,;MSH5,downstream_gene_variant,,ENST00000450148,;SAPCD1-AS1,downstream_gene_variant,,ENST00000419679,;MSH5-SAPCD1,non_coding_transcript_exon_variant,,ENST00000491552,;VWA7,downstream_gene_variant,,ENST00000467576,;MSH5,downstream_gene_variant,,ENST00000468602,;MSH5-SAPCD1,3_prime_UTR_variant,,ENST00000493662,;MSH5-SAPCD1,3_prime_UTR_variant,,ENST00000498473,;MSH5-SAPCD1,intron_variant,,ENST00000476085,;MSH5,downstream_gene_variant,,ENST00000423982,;MSH5,downstream_gene_variant,,ENST00000463144,;MSH5,downstream_gene_variant,,ENST00000467319,;MSH5,downstream_gene_variant,,ENST00000468136,;MSH5,downstream_gene_variant,,ENST00000484309,;VWA7,downstream_gene_variant,,ENST00000486423,;SAPCD1,upstream_gene_variant,,ENST00000494299,;MSH5,downstream_gene_variant,,ENST00000494458,;MSH5,downstream_gene_variant,,ENST00000494646,; T ENSG00000228727 ENST00000415669 Transcript missense_variant 124/916 65/537 22/178 P/L cCg/cTg rs750348315,COSM3394095 1 1 SAPCD1 HGNC HGNC:13938 protein_coding YES CCDS34411.1 ENSP00000411948 Q5SSQ6 A0A1U9X8I8 UPI000020D95B NM_001039651.1 deleterious(0.05) benign(0.372) 1/5 hmmpanther:PTHR14907,hmmpanther:PTHR14907:SF4 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 1.583e-05 0.0001672 6.788e-05 1.122e-05 31763119 PRRT1 . GRCh38 chr6 32150751 32150751 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.175T>G p.Leu59Val p.L59V ENST00000211413 2/4 86 64 21 33 30 0 PRRT1,missense_variant,p.Leu59Val,ENST00000211413,NM_030651.3;PRRT1,intron_variant,,ENST00000375150,;AL662884.4,intron_variant,,ENST00000428778,;PPT2,upstream_gene_variant,,ENST00000324816,NM_005155.6,NM_001204103.1;PPT2,upstream_gene_variant,,ENST00000361568,NM_138717.2;PPT2,upstream_gene_variant,,ENST00000375137,;PPT2,upstream_gene_variant,,ENST00000375143,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;AL662884.3,downstream_gene_variant,,ENST00000475826,;AL662884.3,downstream_gene_variant,,ENST00000485392,;AL662884.3,downstream_gene_variant,,ENST00000494332,;AL662884.3,downstream_gene_variant,,ENST00000497552,;AL662884.3,downstream_gene_variant,,ENST00000498575,;PRRT1,intron_variant,,ENST00000472641,;PPT2-EGFL8,upstream_gene_variant,,ENST00000453656,;PPT2,upstream_gene_variant,,ENST00000465047,;PRRT1,upstream_gene_variant,,ENST00000467780,;PPT2,upstream_gene_variant,,ENST00000478521,;AL662884.4,downstream_gene_variant,,ENST00000486917,;PPT2,upstream_gene_variant,,ENST00000493548,;PRRT1,non_coding_transcript_exon_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2,upstream_gene_variant,,ENST00000436118,;PPT2-EGFL8,upstream_gene_variant,,ENST00000583227,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,; C ENSG00000204314 ENST00000211413 Transcript missense_variant 300/1909 175/921 59/306 L/V Tta/Gta 1 -1 PRRT1 HGNC HGNC:13943 protein_coding YES CCDS4739.1 ENSP00000211413 Q99946 A0A1U9X8D6 UPI000012FFED NM_030651.3 deleterious_low_confidence(0) possibly_damaging(0.636) 2/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14948:SF21,hmmpanther:PTHR14948 MODERATE 1 SNV 1 PASS AAG . . 32150751 PNPLA1 . GRCh38 chr6 36302001 36302001 + Missense_Mutation SNP G G A rs536510288 7316-156 BS_S0WS43HJ G G c.916G>A p.Gly306Arg p.G306R ENST00000394571 6/8 78 59 19 38 38 0 PNPLA1,missense_variant,p.Gly211Arg,ENST00000388715,NM_173676.2;PNPLA1,missense_variant,p.Gly215Arg,ENST00000636260,;PNPLA1,missense_variant,p.Gly307Arg,ENST00000457797,;PNPLA1,missense_variant,p.Gly306Arg,ENST00000394571,NM_001145717.1;PNPLA1,missense_variant,p.Gly220Arg,ENST00000312917,NM_001145716.2;,regulatory_region_variant,,ENSR00000320449,; A ENSG00000180316 ENST00000394571 Transcript missense_variant 916/1599 916/1599 306/532 G/R Gga/Aga rs536510288,COSM3626189,COSM3626188,COSM3626187 1 1 PNPLA1 HGNC HGNC:21246 protein_coding YES CCDS54997.1 ENSP00000378072 Q8N8W4 B8XXQ3 UPI000189560E NM_001145717.1 deleterious(0.01) benign(0.018) 6/8 mobidb-lite,cd07219,hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF23 0.0004 0.002 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 1 PASS AGG . . 4.062e-06 5.798e-05 36302001 MDGA1 . GRCh38 chr6 37654318 37654318 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.938A>C p.Asn313Thr p.N313T ENST00000434837 6/17 72 64 8 43 42 0 MDGA1,missense_variant,p.Asn313Thr,ENST00000434837,NM_153487.3;MDGA1,missense_variant,p.Asn313Thr,ENST00000505425,;MDGA1,downstream_gene_variant,,ENST00000508399,;MDGA1,downstream_gene_variant,,ENST00000515437,;MDGA1,non_coding_transcript_exon_variant,,ENST00000478143,;,regulatory_region_variant,,ENSR00000196431,;,regulatory_region_variant,,ENSR00000320489,; G ENSG00000112139 ENST00000434837 Transcript missense_variant 2117/10736 938/2868 313/955 N/T aAt/aCt 1 -1 MDGA1 HGNC HGNC:19267 protein_coding YES CCDS47417.1 ENSP00000402584 Q8NFP4 UPI0000071D28 NM_153487.3 deleterious(0) probably_damaging(0.975) 6/17 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR42757,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS ATT . . 37654318 C6orf141 . GRCh38 chr6 49550935 49550935 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.143A>C p.Asn48Thr p.N48T ENST00000529246 1/1 67 54 10 40 36 1 C6orf141,missense_variant,p.Asn48Thr,ENST00000529246,NM_001145652.1;C6orf141,upstream_gene_variant,,ENST00000424426,;C6orf141,missense_variant,p.Asn48Thr,ENST00000371194,;C6orf141,missense_variant,p.Asn48Thr,ENST00000414696,;C6orf141,upstream_gene_variant,,ENST00000415078,;C6orf141,upstream_gene_variant,,ENST00000526429,;C6orf141,upstream_gene_variant,,ENST00000530382,;,regulatory_region_variant,,ENSR00000197764,; C ENSG00000197261 ENST00000529246 Transcript missense_variant 290/1450 143/735 48/244 N/T aAt/aCt 1 1 C6orf141 HGNC HGNC:21351 protein_coding YES CCDS55018.1 ENSP00000434602 Q5SZD1 UPI000013E9DC NM_001145652.1 tolerated(0.17) benign(0.038) 1/1 mobidb-lite,hmmpanther:PTHR36880 MODERATE 1 SNV PASS AAT . . 49550935 AK9 . GRCh38 chr6 109659176 109659221 + Splice_Region DEL TATAGCAATTTTAAAAAGTGTAGTGTATGGTAGTTACCTATTGAGA TATAGCAATTTTAAAAAGTGTAGTGTATGGTAGTTACCTATTGAGA - novel 7316-156 BS_S0WS43HJ TATAGCAATTTTAAAAAGTGTAGTGTATGGTAGTTACCTATTGAGA TATAGCAATTTTAAAAAGTGTAGTGTATGGTAGTTACCTATTGAGA c.630+7_630+52del ENST00000424296 77 60 17 63 63 0 AK9,splice_region_variant,,ENST00000285397,NM_145025.4;AK9,splice_region_variant,,ENST00000368948,;AK9,splice_region_variant,,ENST00000424296,NM_001145128.2;AK9,splice_region_variant,,ENST00000448084,;AK9,splice_region_variant,,ENST00000524674,;AK9,splice_region_variant,,ENST00000532976,;AK9,splice_region_variant,,ENST00000605986,; - ENSG00000155085 ENST00000424296 Transcript splice_region_variant,intron_variant 1 -1 AK9 HGNC HGNC:33814 protein_coding YES CCDS55048.1 ENSP00000410186 Q5TCS8 UPI0001A48FC8 NM_001145128.2 7/40 LOW 1 deletion 5 1 PASS ATTATAGCAATTTTAAAAAGTGTAGTGTATGGTAGTTACCTATTGAGAT . . 109659175 ENPP1 . GRCh38 chr6 131808115 131808115 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.80A>C p.Asn27Thr p.N27T ENST00000360971 1/25 107 82 22 40 36 1 ENPP1,missense_variant,p.Asn27Thr,ENST00000360971,NM_006208.2;ENPP1,missense_variant,p.Asn27Thr,ENST00000513998,;ENPP1,non_coding_transcript_exon_variant,,ENST00000486853,;,regulatory_region_variant,,ENSR00000202872,; C ENSG00000197594 ENST00000360971 Transcript missense_variant 100/7442 80/2778 27/925 N/T aAc/aCc 1 1 ENPP1 HGNC HGNC:3356 protein_coding YES CCDS5150.2 ENSP00000354238 P22413 UPI00001303F0 NM_006208.2 deleterious_low_confidence(0.05) benign(0) 1/25 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 131808115 ESR1 . GRCh38 chr6 152094500 152094500 + Frame_Shift_Del DEL G G - novel 7316-156 BS_S0WS43HJ G G c.1485del p.Thr496ProfsTer22 p.T496Pfs*22 ENST00000440973 9/10 71 57 10 46 46 0 ESR1,frameshift_variant,p.Thr496ProfsTer22,ENST00000440973,NM_001122742.1;ESR1,frameshift_variant,p.Thr496ProfsTer22,ENST00000206249,NM_000125.3,NM_001291230.1,NM_001122741.1,NM_001291241.1;ESR1,frameshift_variant,p.Thr496ProfsTer22,ENST00000443427,NM_001122740.1;ESR1,frameshift_variant,p.Thr496ProfsTer22,ENST00000338799,;ESR1,frameshift_variant,p.Thr235ProfsTer22,ENST00000406599,;ESR1,frameshift_variant,p.Asp22ThrfsTer?,ENST00000638569,;ESR1,3_prime_UTR_variant,,ENST00000456483,;ESR1,intron_variant,,ENST00000427531,NM_001328100.1;ESR1,non_coding_transcript_exon_variant,,ENST00000641399,; - ENSG00000091831 ENST00000440973 Transcript frameshift_variant 1855/6466 1485/1788 495/595 L/X ctG/ct 1 1 ESR1 HGNC HGNC:3467 protein_coding YES CCDS5234.1 ENSP00000405330 P03372 G4XH65 UPI000004A328 NM_001122742.1 9/10 Gene3D:1.10.565.10,Pfam_domain:PF00104,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500101,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF3,SMART_domains:SM00430,Superfamily_domains:SSF48508,cd06949,Low_complexity_(Seg):seg HIGH 1 deletion 5 1 PASS CTGA . . 152094499 IGF2R . GRCh38 chr6 159969379 159969379 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.133T>G p.Phe45Val p.F45V ENST00000356956 1/48 92 73 14 51 51 0 IGF2R,missense_variant,p.Phe45Val,ENST00000356956,NM_000876.3;,regulatory_region_variant,,ENSR00000206314,; G ENSG00000197081 ENST00000356956 Transcript missense_variant 281/14044 133/7476 45/2491 F/V Ttc/Gtc 1 1 IGF2R HGNC HGNC:5467 protein_coding YES CCDS5273.1 ENSP00000349437 P11717 UPI0000072478 NM_000876.3 tolerated(0.17) benign(0.003) 1/48 Gene3D:2.70.130.10,Superfamily_domains:SSF50911 MODERATE 1 SNV 1 1 PASS GTT . . 159969379 PRR18 . GRCh38 chr6 166307481 166307481 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.662T>G p.Val221Gly p.V221G ENST00000322583 1/1 86 68 16 43 42 1 PRR18,missense_variant,p.Val221Gly,ENST00000322583,NM_175922.3;PRR18,downstream_gene_variant,,ENST00000529616,; C ENSG00000176381 ENST00000322583 Transcript missense_variant 903/3084 662/888 221/295 V/G gTt/gGt 1 -1 PRR18 HGNC HGNC:28574 protein_coding YES CCDS5291.1 ENSP00000319590 Q8N4B5 UPI0000140E82 NM_175922.3 tolerated_low_confidence(0.36) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR10994:SF127,hmmpanther:PTHR10994,Pfam_domain:PF15671 MODERATE 1 SNV PASS AAC . . 166307481 DACT2 . GRCh38 chr6 168307737 168307737 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.2020T>G p.Phe674Val p.F674V ENST00000366795 4/4 73 58 15 33 33 0 DACT2,missense_variant,p.Phe674Val,ENST00000366795,NM_214462.4;DACT2,missense_variant,p.Phe504Val,ENST00000610183,NM_001286350.1;DACT2,missense_variant,p.Phe266Val,ENST00000607983,;DACT2,intron_variant,,ENST00000366796,NM_001286351.1; C ENSG00000164488 ENST00000366795 Transcript missense_variant 2109/2942 2020/2325 674/774 F/V Ttc/Gtc 1 -1 DACT2 HGNC HGNC:21231 protein_coding YES CCDS47519.1 ENSP00000355760 Q5SW24 UPI00001D8145 NM_214462.4 deleterious(0.01) possibly_damaging(0.891) 4/4 Pfam_domain:PF15268,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF13,mobidb-lite MODERATE 1 SNV 2 PASS AAC . . 168307737 UNCX . GRCh38 chr7 1236600 1236600 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.1219A>C p.Lys407Gln p.K407Q ENST00000316333 3/3 59 47 7 33 29 1 UNCX,missense_variant,p.Lys407Gln,ENST00000316333,NM_001080461.1;,regulatory_region_variant,,ENSR00000207580,; C ENSG00000164853 ENST00000316333 Transcript missense_variant 1330/2048 1219/1596 407/531 K/Q Aag/Cag 1 1 UNCX HGNC HGNC:33194 protein_coding YES CCDS34583.1 ENSP00000314480 A6NJT0 UPI0000D61BE6 NM_001080461.1 deleterious_low_confidence(0.01) benign(0.206) 3/3 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CAA . . 1236600 GLCCI1 . GRCh38 chr7 7969472 7969472 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.122A>C p.Asn41Thr p.N41T ENST00000223145 1/8 66 55 9 36 35 0 GLCCI1,missense_variant,p.Asn41Thr,ENST00000223145,NM_138426.3;GLCCI1,upstream_gene_variant,,ENST00000414914,;GLCCI1,upstream_gene_variant,,ENST00000430798,;UMAD1,downstream_gene_variant,,ENST00000482067,;AC006042.2,intron_variant,,ENST00000428660,;AC007161.3,intron_variant,,ENST00000469183,;GLCCI1,upstream_gene_variant,,ENST00000470583,;GLCCI1,upstream_gene_variant,,ENST00000474269,;GLCCI1,upstream_gene_variant,,ENST00000460897,;GLCCI1,upstream_gene_variant,,ENST00000492797,;,regulatory_region_variant,,ENSR00000324743,; C ENSG00000106415 ENST00000223145 Transcript missense_variant 679/4743 122/1644 41/547 N/T aAc/aCc 1 1 GLCCI1 HGNC HGNC:18713 protein_coding YES CCDS34601.1 ENSP00000223145 Q86VQ1 UPI00001907F7 NM_138426.3 deleterious_low_confidence(0.02) benign(0.005) 1/8 hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 7969472 PLEKHA8 . GRCh38 chr7 30049347 30049347 + Missense_Mutation SNP G G A novel 7316-156 BS_S0WS43HJ G G c.562G>A p.Gly188Arg p.G188R ENST00000449726 5/14 73 49 24 58 58 0 PLEKHA8,missense_variant,p.Gly188Arg,ENST00000449726,NM_001197026.1;PLEKHA8,missense_variant,p.Gly214Arg,ENST00000440706,;PLEKHA8,missense_variant,p.Gly188Arg,ENST00000396259,NM_001350974.1;PLEKHA8,missense_variant,p.Gly188Arg,ENST00000258679,NM_032639.3;PLEKHA8,missense_variant,p.Gly188Arg,ENST00000622102,NM_001197027.1;PLEKHA8,missense_variant,p.Gly188Arg,ENST00000396257,;PLEKHA8,downstream_gene_variant,,ENST00000483799,;PLEKHA8,non_coding_transcript_exon_variant,,ENST00000498106,; A ENSG00000106086 ENST00000449726 Transcript missense_variant 964/7835 562/1560 188/519 G/R Gga/Aga 1 1 PLEKHA8 HGNC HGNC:30037 protein_coding YES CCDS56473.1 ENSP00000397947 Q96JA3 UPI000020ECE0 NM_001197026.1 deleterious(0.01) probably_damaging(0.999) 5/14 hmmpanther:PTHR10219:SF45,hmmpanther:PTHR10219 MODERATE 1 SNV 1 PASS AGG . . 30049347 AEBP1 . GRCh38 chr7 44104666 44104666 + Translation_Start_Site SNP A A C novel 7316-156 BS_S0WS43HJ A A c.1A>C p.Met1? p.M1? ENST00000223357 1/21 82 67 12 31 31 0 AEBP1,start_lost,p.Met1?,ENST00000223357,NM_001129.4;AEBP1,upstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000453052,;,regulatory_region_variant,,ENSR00000211784,; C ENSG00000106624 ENST00000223357 Transcript start_lost 306/4081 1/3477 1/1158 M/L Atg/Ctg 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 deleterious_low_confidence(0) benign(0.019) 1/21 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS CAT . . 44104666 ZNF117 . GRCh38 chr7 64978563 64978563 + Missense_Mutation SNP C C A 7316-156 BS_S0WS43HJ C C c.1008G>T p.Glu336Asp p.E336D ENST00000282869 4/4 76 62 8 35 34 0 ZNF117,missense_variant,p.Glu336Asp,ENST00000282869,NM_015852.3;ZNF117,missense_variant,p.Glu336Asp,ENST00000620222,NM_001348050.1;ZNF117,intron_variant,,ENST00000610793,;ZNF117,downstream_gene_variant,,ENST00000487644,; A ENSG00000152926 ENST00000282869 Transcript missense_variant 2293/9080 1008/1452 336/483 E/D gaG/gaT COSM6445199 1 -1 ZNF117 HGNC HGNC:12897 protein_coding YES CCDS43593.1 ENSP00000282869 Q03924 UPI000049E07A NM_015852.3 deleterious(0.03) benign(0.093) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF037113,PIRSF_domain:PIRSF037113,PIRSF_domain:PIRSF037113,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,hmmpanther:PTHR24384:SF134,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS CCT . . 64978563 TRIM56 . GRCh38 chr7 101089038 101089038 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.1726A>C p.Asn576His p.N576H ENST00000306085 3/3 92 81 8 32 31 0 TRIM56,missense_variant,p.Asn576His,ENST00000306085,NM_030961.2;TRIM56,intron_variant,,ENST00000412507,;TRIM56,downstream_gene_variant,,ENST00000467847,;TRIM56,upstream_gene_variant,,ENST00000487252,; C ENSG00000169871 ENST00000306085 Transcript missense_variant 2023/10952 1726/2268 576/755 N/H Aac/Cac 1 1 TRIM56 HGNC HGNC:19028 protein_coding YES CCDS43625.1 ENSP00000305161 Q9BRZ2 UPI0000171C4A NM_030961.2 tolerated(0.13) benign(0.094) 3/3 Gene3D:2.120.10.30,Superfamily_domains:SSF75011 MODERATE 1 SNV 1 PASS CAA . . 101089038 CCDC136 . GRCh38 chr7 128794352 128794352 + Frame_Shift_Del DEL G G - novel 7316-156 BS_S0WS43HJ G G c.22del p.Val8CysfsTer44 p.V8Cfs*44 ENST00000297788 2/18 75 45 24 37 36 0 CCDC136,frameshift_variant,p.Val8CysfsTer44,ENST00000297788,NM_022742.4;CCDC136,frameshift_variant,p.Val8CysfsTer44,ENST00000487361,;CCDC136,frameshift_variant,p.Val58CysfsTer44,ENST00000464832,;CCDC136,frameshift_variant,p.Val58CysfsTer44,ENST00000378685,NM_001201372.1;CCDC136,frameshift_variant,p.Val8CysfsTer44,ENST00000485998,;CCDC136,frameshift_variant,p.Val8CysfsTer44,ENST00000459946,;CCDC136,frameshift_variant,p.Val8CysfsTer44,ENST00000488925,;CCDC136,downstream_gene_variant,,ENST00000472049,; - ENSG00000128596 ENST00000297788 Transcript frameshift_variant 388/4169 21/3465 7/1154 E/X gaG/ga 1 1 CCDC136 HGNC HGNC:22225 protein_coding YES CCDS47704.1 ENSP00000297788 Q96JN2 UPI0000E445DE NM_022742.4 2/18 mobidb-lite,hmmpanther:PTHR15715:SF26,hmmpanther:PTHR15715 HIGH 1 deletion 1 1 PASS GAGG . . 128794351 ESYT2 . GRCh38 chr7 158829459 158829459 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.104A>C p.Gln35Pro p.Q35P ENST00000251527 1/22 101 78 20 29 28 0 ESYT2,missense_variant,p.Gln35Pro,ENST00000251527,NM_020728.2;ESYT2,missense_variant,p.Gln5Pro,ENST00000275418,;ESYT2,missense_variant,p.Ser91Arg,ENST00000613624,;ESYT2,intron_variant,,ENST00000497111,;ESYT2,upstream_gene_variant,,ENST00000483958,;,regulatory_region_variant,,ENSR00000220327,; G ENSG00000117868 ENST00000251527 Transcript missense_variant 170/5960 104/2682 35/893 Q/P cAg/cCg 1 -1 ESYT2 HGNC HGNC:22211 protein_coding YES CCDS34791.1 ENSP00000251527 A0FGR8 UPI00002339BD NM_020728.2 tolerated_low_confidence(0.17) benign(0) 1/22 mobidb-lite MODERATE 1 SNV 1 PASS CTG . . 158829459 KIFC2 . GRCh38 chr8 144466757 144466757 + Splice_Region SNP T T G novel 7316-156 BS_S0WS43HJ T T c.100-3T>G ENST00000301332 88 74 12 26 26 0 KIFC2,splice_region_variant,,ENST00000301332,NM_145754.3;KIFC2,splice_region_variant,,ENST00000642354,;KIFC2,splice_region_variant,,ENST00000645548,;CYHR1,upstream_gene_variant,,ENST00000306145,;CYHR1,upstream_gene_variant,,ENST00000403000,NM_032687.3;CYHR1,upstream_gene_variant,,ENST00000424149,NM_001129888.1;CYHR1,upstream_gene_variant,,ENST00000438911,NM_138496.1;CYHR1,upstream_gene_variant,,ENST00000526887,;CYHR1,upstream_gene_variant,,ENST00000530374,;CYHR1,upstream_gene_variant,,ENST00000530637,;CYHR1,upstream_gene_variant,,ENST00000533764,;AC084125.1,downstream_gene_variant,,ENST00000525461,;KIFC2,upstream_gene_variant,,ENST00000531423,;KIFC2,splice_region_variant,,ENST00000643461,;CYHR1,upstream_gene_variant,,ENST00000524623,;CYHR1,upstream_gene_variant,,ENST00000528558,;KIFC2,upstream_gene_variant,,ENST00000529644,;KIFC2,upstream_gene_variant,,ENST00000529864,;KIFC2,upstream_gene_variant,,ENST00000531425,;KIFC2,upstream_gene_variant,,ENST00000533114,;,regulatory_region_variant,,ENSR00000232255,; G ENSG00000167702 ENST00000301332 Transcript splice_region_variant,intron_variant 1 1 KIFC2 HGNC HGNC:29530 protein_coding YES CCDS6427.1 ENSP00000301332 Q96AC6 UPI000006D3B2 NM_145754.3 1/16 LOW 1 SNV 1 PASS CTA . . 144466757 DCAF12 . GRCh38 chr9 34126392 34126392 + Missense_Mutation SNP C C A novel 7316-156 BS_S0WS43HJ C C c.40G>T p.Ala14Ser p.A14S ENST00000361264 1/9 69 39 30 38 38 0 DCAF12,missense_variant,p.Ala14Ser,ENST00000361264,NM_015397.3;DCAF12,intron_variant,,ENST00000396990,;DCAF12,upstream_gene_variant,,ENST00000450964,;DCAF12,upstream_gene_variant,,ENST00000463286,;,regulatory_region_variant,,ENSR00000234478,; A ENSG00000198876 ENST00000361264 Transcript missense_variant 382/3667 40/1362 14/453 A/S Gcc/Tcc 1 -1 DCAF12 HGNC HGNC:19911 protein_coding YES CCDS6549.1 ENSP00000355114 Q5T6F0 UPI00000372E8 NM_015397.3 tolerated_low_confidence(0.14) benign(0.07) 1/9 hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF10,mobidb-lite MODERATE 1 SNV 1 PASS GCG . . 34126392 FOXD4L4 . GRCh38 chr9 65738360 65738360 + Frame_Shift_Del DEL C C - rs59364037 7316-156 BS_S0WS43HJ C C c.1215del p.Trp406GlyfsTer21 p.W406Gfs*21 ENST00000377413 1/1 45 35 5 19 19 0 FOXD4L4,frameshift_variant,p.Trp406GlyfsTer21,ENST00000377413,NM_199244.3;CBWD5,downstream_gene_variant,,ENST00000377392,NM_001286835.1;CBWD5,downstream_gene_variant,,ENST00000377395,NM_001024916.3;CBWD5,downstream_gene_variant,,ENST00000382405,NM_001330668.1;CBWD5,downstream_gene_variant,,ENST00000429800,;CBWD5,downstream_gene_variant,,ENST00000430059,;CBWD5,downstream_gene_variant,,ENST00000489273,;CBWD5,downstream_gene_variant,,ENST00000468066,;CBWD5,downstream_gene_variant,,ENST00000476797,;CBWD5,downstream_gene_variant,,ENST00000486191,;CBWD5,downstream_gene_variant,,ENST00000377389,;CBWD5,downstream_gene_variant,,ENST00000461932,;CBWD5,downstream_gene_variant,,ENST00000463075,;CBWD5,downstream_gene_variant,,ENST00000480229,;CBWD5,downstream_gene_variant,,ENST00000480819,;CBWD5,downstream_gene_variant,,ENST00000485088,;CBWD5,downstream_gene_variant,,ENST00000486221,;CBWD5,downstream_gene_variant,,ENST00000491485,;CBWD5,downstream_gene_variant,,ENST00000497250,;,regulatory_region_variant,,ENSR00000235378,; - ENSG00000184659 ENST00000377413 Transcript frameshift_variant 1806/2230 1215/1251 405/416 C/X tgC/tg rs59364037 1 1 FOXD4L4 HGNC HGNC:23762 protein_coding YES CCDS75845.1 ENSP00000366630 Q8WXT5 UPI0000246F14 NM_199244.3 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF324 HIGH deletion PASS TGCT . . 65738359 PROSER2 . GRCh38 chr10 11870245 11870245 + Missense_Mutation SNP T T G rs1490956499 7316-156 BS_S0WS43HJ T T c.1147T>G p.Phe383Val p.F383V ENST00000277570 4/4 78 67 11 37 36 1 PROSER2,missense_variant,p.Phe383Val,ENST00000277570,NM_153256.3;PROSER2,missense_variant,p.Phe289Val,ENST00000622831,;PROSER2,missense_variant,p.Phe187Val,ENST00000379200,;PROSER2,downstream_gene_variant,,ENST00000444604,;PROSER2-AS1,intron_variant,,ENST00000445498,;PROSER2-AS1,intron_variant,,ENST00000453242,;PROSER2,downstream_gene_variant,,ENST00000474155,;,regulatory_region_variant,,ENSR00000024485,; G ENSG00000148426 ENST00000277570 Transcript missense_variant 1301/3333 1147/1308 383/435 F/V Ttc/Gtc rs1490956499 1 1 PROSER2 HGNC HGNC:23728 protein_coding YES CCDS7085.1 ENSP00000277570 Q86WR7 UPI00001F8B49 NM_153256.3 tolerated(0.27) benign(0.005) 4/4 mobidb-lite,hmmpanther:PTHR16095:SF9,hmmpanther:PTHR16095 MODERATE 1 SNV 1 PASS CTT . . 1.224e-05 3.288e-05 11870245 UPF2 . GRCh38 chr10 12029214 12029214 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.676T>G p.Cys226Gly p.C226G ENST00000356352 2/21 51 31 20 48 48 0 UPF2,missense_variant,p.Cys226Gly,ENST00000356352,;UPF2,missense_variant,p.Cys226Gly,ENST00000397053,NM_080599.2;UPF2,missense_variant,p.Cys226Gly,ENST00000357604,NM_015542.3; C ENSG00000151461 ENST00000356352 Transcript missense_variant 1150/5569 676/3819 226/1272 C/G Tgc/Ggc 1 -1 UPF2 HGNC HGNC:17854 protein_coding YES CCDS7086.1 ENSP00000348708 Q9HAU5 UPI0000070D5E deleterious(0.01) probably_damaging(0.977) 2/21 hmmpanther:PTHR12839,Pfam_domain:PF02854,Gene3D:1.25.40.180,SMART_domains:SM00543,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS CAG . . 12029214 SORBS1 . GRCh38 chr10 95406142 95406142 + Missense_Mutation SNP G G T novel 7316-156 BS_S0WS43HJ G G c.961C>A p.Gln321Lys p.Q321K ENST00000371247 11/33 61 51 5 37 37 0 SORBS1,missense_variant,p.Gln321Lys,ENST00000371247,;SORBS1,missense_variant,p.Gln321Lys,ENST00000371227,NM_001290294.1;SORBS1,missense_variant,p.Gln321Lys,ENST00000371246,;SORBS1,missense_variant,p.Gln289Lys,ENST00000371249,NM_015385.3;SORBS1,missense_variant,p.Gln198Lys,ENST00000306402,NM_001290295.1,NM_024991.2;SORBS1,missense_variant,p.Gln321Lys,ENST00000361941,NM_001034954.1;SORBS1,missense_variant,p.Gln321Lys,ENST00000277982,NM_001034955.1;SORBS1,missense_variant,p.Gln312Lys,ENST00000354106,NM_001290296.1,NM_001290298.1;SORBS1,missense_variant,p.Gln252Lys,ENST00000371245,NM_001034956.1;SORBS1,missense_variant,p.Gln166Lys,ENST00000371239,NM_001290297.1;SORBS1,missense_variant,p.Gln157Lys,ENST00000371241,NM_006434.2,NM_001034957.1;SORBS1,missense_variant,p.Gln127Lys,ENST00000486141,;SORBS1,intron_variant,,ENST00000607232,;SORBS1,non_coding_transcript_exon_variant,,ENST00000474353,;SORBS1,non_coding_transcript_exon_variant,,ENST00000465489,; T ENSG00000095637 ENST00000371247 Transcript missense_variant 1151/7354 961/3879 321/1292 Q/K Caa/Aaa 1 -1 SORBS1 HGNC HGNC:14565 protein_coding YES CCDS31255.1 ENSP00000360293 Q9BX66 UPI000013D6B7 deleterious(0) benign(0.254) 11/33 mobidb-lite,hmmpanther:PTHR45043 MODERATE 1 SNV 5 PASS TGC . . 95406142 CDHR5 . GRCh38 chr11 618803 618803 + Missense_Mutation SNP T T G 7316-156 BS_S0WS43HJ T T c.1756A>C p.Met586Leu p.M586L ENST00000358353 14/16 67 50 7 28 25 0 CDHR5,missense_variant,p.Met586Leu,ENST00000358353,;CDHR5,missense_variant,p.Met586Leu,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;IRF7,upstream_gene_variant,,ENST00000528413,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; G ENSG00000099834 ENST00000358353 Transcript missense_variant 2079/3635 1756/2538 586/845 M/L Atg/Ctg COSM4671060 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(0.43) benign(0) 14/16 mobidb-lite,hmmpanther:PTHR45160 1 MODERATE SNV 5 1 PASS ATA . . 618803 RBMXL2 . GRCh38 chr11 7089604 7089604 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.484A>C p.Lys162Gln p.K162Q ENST00000306904 1/1 107 94 12 31 31 0 RBMXL2,missense_variant,p.Lys162Gln,ENST00000306904,NM_014469.4;,regulatory_region_variant,,ENSR00000262667,; C ENSG00000170748 ENST00000306904 Transcript missense_variant 578/1874 484/1179 162/392 K/Q Aag/Cag 1 1 RBMXL2 HGNC HGNC:17886 protein_coding YES CCDS7777.1 ENSP00000304139 O75526 UPI000013EBA5 NM_014469.4 deleterious(0.02) benign(0.108) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345,hmmpanther:PTHR44345:SF2,Gene3D:3.30.70.330 MODERATE 1 SNV PASS CAA . . 7089604 ESRRA . GRCh38 chr11 64315749 64315749 + Missense_Mutation SNP G G C rs200986301 7316-156 BS_S0WS43HJ G G c.1055G>C p.Arg352Pro p.R352P ENST00000405666 7/7 92 79 12 42 42 0 ESRRA,missense_variant,p.Arg352Pro,ENST00000405666,NM_001282450.1;ESRRA,missense_variant,p.Arg351Pro,ENST00000406310,NM_001282451.1;ESRRA,missense_variant,p.Arg352Pro,ENST00000000442,NM_004451.4;ESRRA,missense_variant,p.Arg133Pro,ENST00000545035,;PRDX5,upstream_gene_variant,,ENST00000265462,NM_012094.4;TRMT112,downstream_gene_variant,,ENST00000308774,NM_001286082.1;PRDX5,upstream_gene_variant,,ENST00000347941,NM_181652.2;PRDX5,upstream_gene_variant,,ENST00000352435,NM_181651.2;TRMT112,downstream_gene_variant,,ENST00000535126,;TRMT112,downstream_gene_variant,,ENST00000535750,;ESRRA,downstream_gene_variant,,ENST00000539594,;TRMT112,downstream_gene_variant,,ENST00000539854,NM_001286084.1;TRMT112,downstream_gene_variant,,ENST00000544844,NM_016404.2;ESRRA,non_coding_transcript_exon_variant,,ENST00000467987,;TRMT112,downstream_gene_variant,,ENST00000537918,; C ENSG00000173153 ENST00000405666 Transcript missense_variant 1289/2283 1055/1272 352/423 R/P cGa/cCa rs200986301,COSM300694,COSM1205702 1 1 ESRRA HGNC HGNC:3471 protein_coding YES CCDS41667.1 ENSP00000384851 P11474 Q569H8 UPI0000167B87 NM_001282450.1 deleterious(0.03) possibly_damaging(0.888) 7/7 Gene3D:1.10.565.10,Pfam_domain:PF00104,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF27,SMART_domains:SM00430,Superfamily_domains:SSF48508,cd06946,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGA . . 0.00327 0.0008755 0.00281 0.002698 0.001367 0.00394 0.004335 0.002808 0.002206 64315749 LTBP3 . GRCh38 chr11 65539748 65539748 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.3519A>C p.Gln1173His p.Q1173H ENST00000301873 25/28 119 105 10 44 44 0 LTBP3,missense_variant,p.Gln1173His,ENST00000301873,NM_001130144.2;LTBP3,missense_variant,p.Gln1126His,ENST00000322147,NM_021070.4,NM_001164266.1;LTBP3,missense_variant,p.Gln1084His,ENST00000530866,;LTBP3,missense_variant,p.Gln603His,ENST00000532932,;LTBP3,missense_variant,p.Gln777His,ENST00000526927,;LTBP3,missense_variant,p.Gln176His,ENST00000530785,;LTBP3,missense_variant,p.Gln129His,ENST00000529189,;LTBP3,missense_variant,p.Gln129His,ENST00000532661,;LTBP3,missense_variant,p.Gln46His,ENST00000529371,;SCYL1,downstream_gene_variant,,ENST00000270176,NM_020680.3;SCYL1,downstream_gene_variant,,ENST00000279270,;SCYL1,downstream_gene_variant,,ENST00000420247,NM_001048218.1;SCYL1,downstream_gene_variant,,ENST00000524944,;SCYL1,downstream_gene_variant,,ENST00000525364,;SCYL1,downstream_gene_variant,,ENST00000527009,;SCYL1,downstream_gene_variant,,ENST00000528545,;SCYL1,downstream_gene_variant,,ENST00000533862,;SCYL1,downstream_gene_variant,,ENST00000534462,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,non_coding_transcript_exon_variant,,ENST00000529582,;SCYL1,downstream_gene_variant,,ENST00000524897,;LTBP3,downstream_gene_variant,,ENST00000525443,;LTBP3,downstream_gene_variant,,ENST00000526124,;SCYL1,downstream_gene_variant,,ENST00000526454,;SCYL1,downstream_gene_variant,,ENST00000529981,;LTBP3,downstream_gene_variant,,ENST00000530990,;SCYL1,downstream_gene_variant,,ENST00000531601,;SCYL1,downstream_gene_variant,,ENST00000532290,; G ENSG00000168056 ENST00000301873 Transcript missense_variant 3788/4443 3519/3912 1173/1303 Q/H caA/caC 1 -1 LTBP3 HGNC HGNC:6716 protein_coding YES CCDS44647.1 ENSP00000301873 Q9NS15 UPI00003667EB NM_001130144.2 deleterious(0.03) benign(0.025) 25/28 PROSITE_profiles:PS51364,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF46,Pfam_domain:PF00683,Gene3D:2.10.25.10,Superfamily_domains:SSF57581 MODERATE SNV 2 1 PASS ATT . . 65539748 SART1 . GRCh38 chr11 65961954 65961954 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.174A>C p.Glu58Asp p.E58D ENST00000312397 1/20 92 66 16 37 36 0 SART1,missense_variant,p.Glu58Asp,ENST00000312397,NM_005146.4;TSGA10IP,downstream_gene_variant,,ENST00000532620,NM_152762.2;SART1,non_coding_transcript_exon_variant,,ENST00000528573,;SART1,missense_variant,p.Glu58Asp,ENST00000530251,;SART1,non_coding_transcript_exon_variant,,ENST00000529532,;SART1,non_coding_transcript_exon_variant,,ENST00000532333,;TSGA10IP,downstream_gene_variant,,ENST00000534740,;TSGA10IP,downstream_gene_variant,,ENST00000608857,;,regulatory_region_variant,,ENSR00000040915,; C ENSG00000175467 ENST00000312397 Transcript missense_variant 266/3293 174/2403 58/800 E/D gaA/gaC 1 1 SART1 HGNC HGNC:10538 protein_coding YES CCDS31611.1 ENSP00000310448 O43290 UPI00000732D5 NM_005146.4 tolerated_low_confidence(0.42) possibly_damaging(0.899) 1/20 PDB-ENSP_mappings:5o9z.P,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 65961954 RNF169 . GRCh38 chr11 74749159 74749159 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.279A>C p.Gln93His p.Q93H ENST00000299563 1/6 78 64 8 42 41 0 RNF169,missense_variant,p.Gln93His,ENST00000299563,NM_001098638.1;,regulatory_region_variant,,ENSR00000042037,;AP001324.1,upstream_gene_variant,,ENST00000428553,; C ENSG00000166439 ENST00000299563 Transcript missense_variant 292/7823 279/2127 93/708 Q/H caA/caC 1 1 RNF169 HGNC HGNC:26961 protein_coding YES CCDS41691.1 ENSP00000299563 Q8NCN4 UPI00001C1F15 NM_001098638.1 deleterious(0.03) possibly_damaging(0.69) 1/6 Gene3D:3.30.40.10,Pfam_domain:PF13920,PROSITE_profiles:PS50089,hmmpanther:PTHR23328,hmmpanther:PTHR23328:SF2,SMART_domains:SM00184,Superfamily_domains:SSF57850,cd16551 MODERATE 1 SNV 1 PASS AAC . . 74749159 MAP6 . GRCh38 chr11 75668102 75668102 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.268A>C p.Thr90Pro p.T90P ENST00000304771 1/4 56 32 11 29 29 0 MAP6,missense_variant,p.Thr90Pro,ENST00000434603,NM_207577.1;MAP6,missense_variant,p.Thr90Pro,ENST00000304771,NM_033063.1;MAP6,intron_variant,,ENST00000526740,;,regulatory_region_variant,,ENSR00000042185,; G ENSG00000171533 ENST00000304771 Transcript missense_variant 1019/3334 268/2442 90/813 T/P Acc/Ccc 1 -1 MAP6 HGNC HGNC:6868 protein_coding YES CCDS31641.1 ENSP00000307093 Q96JE9 UPI0000251E6A NM_033063.1 deleterious(0.02) benign(0.044) 1/4 hmmpanther:PTHR14759,hmmpanther:PTHR14759:SF2,mobidb-lite MODERATE 1 SNV 1 PASS GTA . . 75668102 MAP6 . GRCh38 chr11 75668123 75668123 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.247A>C p.Thr83Pro p.T83P ENST00000304771 1/4 51 34 5 30 30 0 MAP6,missense_variant,p.Thr83Pro,ENST00000434603,NM_207577.1;MAP6,missense_variant,p.Thr83Pro,ENST00000304771,NM_033063.1;MAP6,intron_variant,,ENST00000526740,;,regulatory_region_variant,,ENSR00000042185,; G ENSG00000171533 ENST00000304771 Transcript missense_variant 998/3334 247/2442 83/813 T/P Acg/Ccg 1 -1 MAP6 HGNC HGNC:6868 protein_coding YES CCDS31641.1 ENSP00000307093 Q96JE9 UPI0000251E6A NM_033063.1 tolerated(0.2) probably_damaging(0.985) 1/4 hmmpanther:PTHR14759,hmmpanther:PTHR14759:SF2,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 75668123 OR8B2 . GRCh38 chr11 124382797 124382797 + Missense_Mutation SNP G G A novel 7316-156 BS_S0WS43HJ G G c.547C>T p.Pro183Ser p.P183S ENST00000641451 2/2 50 36 14 34 34 0 OR8B2,missense_variant,p.Pro183Ser,ENST00000641451,;OR8B2,missense_variant,p.Pro183Ser,ENST00000375013,NM_001005468.1;OR8C1P,upstream_gene_variant,,ENST00000427511,; A ENSG00000284680 ENST00000641451 Transcript missense_variant 653/1056 547/942 183/313 P/S Ccc/Tcc 1 -1 OR8B2 HGNC HGNC:8471 protein_coding YES CCDS31708.1 ENSP00000493235 Q96RD0 A0A126GVQ4 UPI000004B1E5 deleterious_low_confidence(0.01) probably_damaging(0.999) 2/2 PROSITE_profiles:PS50262,cd15405,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF432,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Transmembrane_helices:TMhelix MODERATE 1 SNV PASS GGG . . 124382797 P3H3 . GRCh38 chr12 6828525 6828525 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.85T>G p.Ser29Ala p.S29A ENST00000290510 1/15 72 63 8 34 34 0 P3H3,missense_variant,p.Ser29Ala,ENST00000290510,NM_014262.4;GPR162,intron_variant,,ENST00000545321,;GPR162,downstream_gene_variant,,ENST00000311268,NM_019858.1;GPR162,downstream_gene_variant,,ENST00000382315,;GPR162,downstream_gene_variant,,ENST00000428545,NM_014449.1;P3H3,upstream_gene_variant,,ENST00000538102,;GPR162,downstream_gene_variant,,ENST00000541431,;GPR162,downstream_gene_variant,,ENST00000542330,;P3H3,upstream_gene_variant,,ENST00000544813,;GPR162,downstream_gene_variant,,ENST00000535220,;P3H3,upstream_gene_variant,,ENST00000536140,;P3H3,upstream_gene_variant,,ENST00000541956,;P3H3,upstream_gene_variant,,ENST00000544200,;P3H3,upstream_gene_variant,,ENST00000544949,;P3H3,upstream_gene_variant,,ENST00000612048,;,regulatory_region_variant,,ENSR00000048354,; G ENSG00000110811 ENST00000290510 Transcript missense_variant 116/2632 85/2211 29/736 S/A Tcc/Gcc 1 1 P3H3 HGNC HGNC:19318 protein_coding YES CCDS61027.1 ENSP00000478600 Q8IVL6 UPI000007460A NM_014262.4 tolerated(0.13) benign(0.011) 1/15 hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF14 MODERATE 1 SNV 1 PASS GTC . . 6828525 CNTN1 . GRCh38 chr12 40936873 40936873 + Missense_Mutation SNP C C T 7316-156 BS_S0WS43HJ C C c.1078C>T p.Pro360Ser p.P360S ENST00000551295 10/24 75 51 24 35 35 0 CNTN1,missense_variant,p.Pro360Ser,ENST00000551295,NM_001843.3;CNTN1,missense_variant,p.Pro360Ser,ENST00000347616,;CNTN1,missense_variant,p.Pro349Ser,ENST00000348761,NM_175038.2;CNTN1,missense_variant,p.Pro360Ser,ENST00000547849,NM_001256064.1;CNTN1,missense_variant,p.Pro360Ser,ENST00000547702,NM_001256063.1; T ENSG00000018236 ENST00000551295 Transcript missense_variant 1195/5557 1078/3057 360/1018 P/S Cct/Tct COSM5840922,COSM5840921 1 1 CNTN1 HGNC HGNC:2171 protein_coding YES CCDS8737.1 ENSP00000447006 Q12860 A0A024R104 UPI0000127EBA NM_001843.3 deleterious(0) probably_damaging(1) 10/24 PROSITE_profiles:PS50835,hmmpanther:PTHR43905,hmmpanther:PTHR43905:SF2,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726 1,1 MODERATE 1 SNV 1 1,1 1 PASS CCC . . 40936873 PRICKLE1 . GRCh38 chr12 42589459 42589459 + Splice_Region SNP A A C novel 7316-156 BS_S0WS43HJ A A c.-49+6T>G ENST00000345127 88 79 8 34 34 0 PRICKLE1,splice_region_variant,,ENST00000345127,;PRICKLE1,splice_region_variant,,ENST00000552108,;PRICKLE1,splice_region_variant,,ENST00000639958,NM_153026.2;PRICKLE1,splice_region_variant,,ENST00000640646,;PRICKLE1,intron_variant,,ENST00000445766,;PRICKLE1,intron_variant,,ENST00000547113,;PRICKLE1,upstream_gene_variant,,ENST00000640801,;PRICKLE1,splice_region_variant,,ENST00000552200,;PRICKLE1,splice_region_variant,,ENST00000639414,;PRICKLE1,splice_region_variant,,ENST00000639588,;,regulatory_region_variant,,ENSR00000050961,; C ENSG00000139174 ENST00000345127 Transcript splice_region_variant,intron_variant 1 -1 PRICKLE1 HGNC HGNC:17019 protein_coding YES CCDS8742.1 ENSP00000345064 Q96MT3 A0A024R0W7 UPI000013D6F5 1/7 LOW 1 SNV 1 1 PASS CAC . . 42589459 FAM186A . GRCh38 chr12 50353368 50353368 + Missense_Mutation SNP G G T 7316-156 BS_S0WS43HJ G G c.3464C>A p.Pro1155Gln p.P1155Q ENST00000327337 4/8 63 44 8 40 35 0 FAM186A,missense_variant,p.Pro1155Gln,ENST00000543111,;FAM186A,missense_variant,p.Pro1155Gln,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; T ENSG00000185958 ENST00000327337 Transcript missense_variant 3464/7127 3464/7056 1155/2351 P/Q cCg/cAg COSM940344,COSM6332813 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.83) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 1,1 MODERATE 1 SNV 5 1,1 PASS CGG . . 50353368 KRT83 . GRCh38 chr12 52317773 52317773 + Missense_Mutation SNP C C A novel 7316-156 BS_S0WS43HJ C C c.658G>T p.Val220Leu p.V220L ENST00000293670 4/9 84 59 23 40 40 0 KRT83,missense_variant,p.Val220Leu,ENST00000293670,NM_002282.3; A ENSG00000170523 ENST00000293670 Transcript missense_variant 721/1875 658/1482 220/493 V/L Gtg/Ttg 1 -1 KRT83 HGNC HGNC:6460 protein_coding YES CCDS8823.1 ENSP00000293670 P78385 UPI0000070AF2 NM_002282.3 deleterious(0) possibly_damaging(0.517) 4/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF187,Gene3D:1.20.5.340,Pfam_domain:PF00038,SMART_domains:SM01391 MODERATE 1 SNV 1 1 PASS ACA . . 52317773 LEMD3 . GRCh38 chr12 65169997 65169997 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.401A>C p.Lys134Thr p.K134T ENST00000308330 1/13 94 82 9 36 36 0 LEMD3,missense_variant,p.Lys134Thr,ENST00000308330,NM_001167614.1,NM_014319.4;AC026124.2,upstream_gene_variant,,ENST00000621847,;LEMD3,non_coding_transcript_exon_variant,,ENST00000541171,;,regulatory_region_variant,,ENSR00000268861,; C ENSG00000174106 ENST00000308330 Transcript missense_variant 427/4764 401/2736 134/911 K/T aAa/aCa 1 1 LEMD3 HGNC HGNC:28887 protein_coding YES CCDS8972.1 ENSP00000308369 Q9Y2U8 A0A024RBB9 UPI000012EB75 NM_001167614.1,NM_014319.4 deleterious_low_confidence(0.01) probably_damaging(0.932) 1/13 hmmpanther:PTHR13428:SF10,hmmpanther:PTHR13428,Gene3D:3.30.9.10 MODERATE 1 SNV 1 1 PASS AAA . . 65169997 LLPH . GRCh38 chr12 66123977 66123979 + In_Frame_Del DEL TCT TCT - novel 7316-156 BS_S0WS43HJ TCT TCT c.251_253del p.Lys84del p.K84del ENST00000266604 3/3 83 59 17 52 50 0 LLPH,inframe_deletion,p.Lys84del,ENST00000266604,NM_032338.3;LLPH,inframe_deletion,p.Lys84del,ENST00000446587,;AC078927.1,3_prime_UTR_variant,,ENST00000539652,; - ENSG00000139233 ENST00000266604 Transcript inframe_deletion 322-324/7746 251-253/390 84-85/129 KT/T aAGAct/act 1 -1 LLPH HGNC HGNC:28229 protein_coding YES CCDS8974.1 ENSP00000266604 Q9BRT6 A0A024RB76 UPI000006E52D NM_032338.3 3/3 Pfam_domain:PF10169,hmmpanther:PTHR34253 MODERATE 1 deletion 1 PASS AGTCTT . . 66123976 KCNC2 . GRCh38 chr12 75207726 75207726 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.258T>G p.Ser86Arg p.S86R ENST00000549446 2/5 92 80 11 39 39 0 KCNC2,missense_variant,p.Ser86Arg,ENST00000549446,NM_139137.3;KCNC2,missense_variant,p.Ser86Arg,ENST00000298972,NM_139136.3;KCNC2,missense_variant,p.Ser86Arg,ENST00000350228,NM_153748.2;KCNC2,missense_variant,p.Ser86Arg,ENST00000548513,;KCNC2,missense_variant,p.Ser86Arg,ENST00000550433,NM_001260498.1;KCNC2,missense_variant,p.Ser86Arg,ENST00000393288,NM_001260497.1;KCNC2,missense_variant,p.Ser86Arg,ENST00000540018,NM_001260499.1; C ENSG00000166006 ENST00000549446 Transcript missense_variant 939/5625 258/1917 86/638 S/R agT/agG 1 -1 KCNC2 HGNC HGNC:6234 protein_coding YES CCDS9007.1 ENSP00000449253 Q96PR1 A0A024RBA5 UPI000004DB9B NM_139137.3 tolerated_low_confidence(0.19) benign(0.055) 2/5 mobidb-lite,hmmpanther:PTHR11537:SF172,hmmpanther:PTHR11537,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225 MODERATE 1 SNV 1 PASS AAC . . 75207726 CUX2 . GRCh38 chr12 111304301 111304301 + Missense_Mutation SNP A A T novel 7316-156 BS_S0WS43HJ A A c.845A>T p.Gln282Leu p.Q282L ENST00000261726 10/22 100 64 26 30 30 0 CUX2,missense_variant,p.Gln282Leu,ENST00000261726,NM_015267.3;MIR6760,downstream_gene_variant,,ENST00000617342,;,regulatory_region_variant,,ENSR00000270223,; T ENSG00000111249 ENST00000261726 Transcript missense_variant 999/6844 845/4461 282/1486 Q/L cAg/cTg 1 1 CUX2 HGNC HGNC:19347 protein_coding YES CCDS41837.1 ENSP00000261726 O14529 UPI00001FBB07 NM_015267.3 tolerated(0.07) benign(0.169) 10/22 hmmpanther:PTHR14043:SF5,hmmpanther:PTHR14043,Gene3D:1.20.120.330 MODERATE 1 SNV 1 1 PASS CAG . . 111304301 BICDL1 . GRCh38 chr12 119990035 119990035 + Nonsense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.167T>G p.Leu56Ter p.L56* ENST00000397558 1/9 59 46 8 29 29 0 BICDL1,stop_gained,p.Leu56Ter,ENST00000397558,NM_207311.2;BICDL1,upstream_gene_variant,,ENST00000546861,;BICDL1,stop_gained,p.Leu53Ter,ENST00000546420,;,regulatory_region_variant,,ENSR00000058266,; G ENSG00000135127 ENST00000397558 Transcript stop_gained 167/3055 167/1722 56/573 L/* tTa/tGa 1 1 BICDL1 HGNC HGNC:28095 protein_coding YES CCDS41845.1 ENSP00000380690 Q6ZP65 UPI0000406796 NM_207311.2 1/9 Low_complexity_(Seg):seg,hmmpanther:PTHR32123:SF12,hmmpanther:PTHR32123,Gene3D:1.20.1170.10 HIGH 1 SNV 5 PASS TTA . . 119990035 KMT5A . GRCh38 chr12 123389460 123389460 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.38T>G p.Val13Gly p.V13G ENST00000402868 2/8 50 35 11 33 33 0 KMT5A,missense_variant,p.Val13Gly,ENST00000402868,NM_020382.3;KMT5A,5_prime_UTR_variant,,ENST00000330479,;KMT5A,upstream_gene_variant,,ENST00000437502,;KMT5A,intron_variant,,ENST00000478781,;KMT5A,upstream_gene_variant,,ENST00000485469,;KMT5A,downstream_gene_variant,,ENST00000537270,;KMT5A,non_coding_transcript_exon_variant,,ENST00000461103,;KMT5A,intron_variant,,ENST00000437519,;KMT5A,upstream_gene_variant,,ENST00000462311,;,regulatory_region_variant,,ENSR00000058736,; G ENSG00000183955 ENST00000402868 Transcript missense_variant 464/3140 38/1059 13/352 V/G gTg/gGg 1 1 KMT5A HGNC HGNC:29489 protein_coding YES CCDS9247.1 ENSP00000384629 Q9NQR1 UPI000002B371 NM_020382.3 tolerated_low_confidence(0.72) benign(0.003) 2/8 Low_complexity_(Seg):seg,PROSITE_profiles:PS51571 MODERATE 1 SNV 1 PASS GTG . . 123389460 ANKLE2 . GRCh38 chr12 132727303 132727303 + Missense_Mutation SNP C C T rs1246359555 7316-156 BS_S0WS43HJ C C c.2756G>A p.Ser919Asn p.S919N ENST00000357997 13/13 109 81 26 41 41 0 ANKLE2,missense_variant,p.Ser919Asn,ENST00000357997,NM_015114.2;ANKLE2,missense_variant,p.Ser274Asn,ENST00000542282,;ANKLE2,missense_variant,p.Ser274Asn,ENST00000542657,;PGAM5,downstream_gene_variant,,ENST00000498926,NM_001170544.1,NM_001170543.1;ANKLE2,downstream_gene_variant,,ENST00000538766,;RNA5SP379,upstream_gene_variant,,ENST00000364599,;ANKLE2,non_coding_transcript_exon_variant,,ENST00000542374,;ANKLE2,non_coding_transcript_exon_variant,,ENST00000539605,;ANKLE2,downstream_gene_variant,,ENST00000439231,;ANKLE2,downstream_gene_variant,,ENST00000505031,; T ENSG00000176915 ENST00000357997 Transcript missense_variant 2846/4646 2756/2817 919/938 S/N aGc/aAc rs1246359555 1 -1 ANKLE2 HGNC HGNC:29101 protein_coding YES CCDS41869.1 ENSP00000350686 Q86XL3 UPI00001981FB NM_015114.2 deleterious(0) probably_damaging(0.947) 13/13 mobidb-lite,hmmpanther:PTHR12349,hmmpanther:PTHR12349:SF4 MODERATE 1 SNV 1 1 PASS GCT . . 5.99e-06 4.211e-05 132727303 HNRNPA1P30 . GRCh38 chr13 20948971 20948972 + Splice_Region INS - - TTC rs201460408 7316-156 BS_S0WS43HJ - - n.326-7_326-6insGAA ENST00000440699 47 31 6 27 22 0 HNRNPA1P30,intron_variant,,ENST00000424329,;HNRNPA1P30,splice_region_variant,,ENST00000440699,; TTC ENSG00000233780 ENST00000440699 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs201460408 1 -1 HNRNPA1P30 HGNC HGNC:39548 transcribed_processed_pseudogene YES 1/1 LOW 1 insertion PASS CTT . . 20948971 CENPJ . GRCh38 chr13 24905579 24905579 + Missense_Mutation SNP C C T novel 7316-156 BS_S0WS43HJ C C c.2459G>A p.Gly820Glu p.G820E ENST00000381884 7/17 69 55 14 44 43 0 CENPJ,missense_variant,p.Gly820Glu,ENST00000616936,;CENPJ,missense_variant,p.Gly820Glu,ENST00000381884,NM_018451.4;CENPJ,missense_variant,p.Gly820Glu,ENST00000545981,;CENPJ,upstream_gene_variant,,ENST00000418179,; T ENSG00000151849 ENST00000381884 Transcript missense_variant 2645/4347 2459/4017 820/1338 G/E gGg/gAg 1 -1 CENPJ HGNC HGNC:17272 protein_coding YES CCDS9310.1 ENSP00000371308 Q9HC77 UPI000013DC8A NM_018451.4 tolerated(1) benign(0.006) 7/17 Gene3D:1.20.140.50,hmmpanther:PTHR10331,hmmpanther:PTHR10331:SF23 MODERATE 1 SNV 1 1 PASS CCC . . 24905579 POU4F1 . GRCh38 chr13 78602053 78602053 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.622A>C p.Met208Leu p.M208L ENST00000377208 2/2 34 21 10 20 20 0 POU4F1,missense_variant,p.Met208Leu,ENST00000377208,NM_006237.3;RNF219-AS1,intron_variant,,ENST00000430549,;RNF219-AS1,intron_variant,,ENST00000444769,;RNF219-AS1,intron_variant,,ENST00000560209,;RNF219-AS1,intron_variant,,ENST00000560584,;RNF219-AS1,intron_variant,,ENST00000606124,;RNF219-AS1,intron_variant,,ENST00000606376,;RNF219-AS1,intron_variant,,ENST00000606429,;RNF219-AS1,intron_variant,,ENST00000607205,;RNF219-AS1,intron_variant,,ENST00000607220,;RNF219-AS1,intron_variant,,ENST00000607860,;AL445209.1,downstream_gene_variant,,ENST00000607269,;,regulatory_region_variant,,ENSR00000064096,; G ENSG00000152192 ENST00000377208 Transcript missense_variant 856/4547 622/1260 208/419 M/L Atg/Ctg 1 -1 POU4F1 HGNC HGNC:9218 protein_coding YES CCDS31996.1 ENSP00000366413 Q01851 UPI000013DCAA NM_006237.3 tolerated(0.2) benign(0.065) 2/2 hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF42 MODERATE 1 SNV 1 PASS ATG . . 78602053 HS6ST3 . GRCh38 chr13 96091073 96091073 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.211T>G p.Leu71Val p.L71V ENST00000376705 1/2 67 54 9 26 25 0 HS6ST3,missense_variant,p.Leu71Val,ENST00000376705,NM_153456.3;,regulatory_region_variant,,ENSR00000064721,; G ENSG00000185352 ENST00000376705 Transcript missense_variant 235/7804 211/1416 71/471 L/V Ttg/Gtg 1 1 HS6ST3 HGNC HGNC:19134 protein_coding YES CCDS9481.1 ENSP00000365895 Q8IZP7 UPI00001AF933 NM_153456.3 deleterious_low_confidence(0.02) benign(0.011) 1/2 hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 96091073 SOX1 . GRCh38 chr13 112068548 112068548 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.890T>G p.Val297Gly p.V297G ENST00000330949 1/1 51 32 10 29 28 0 SOX1,missense_variant,p.Val297Gly,ENST00000330949,NM_005986.2; G ENSG00000182968 ENST00000330949 Transcript missense_variant 902/2842 890/1176 297/391 V/G gTg/gGg 1 1 SOX1 HGNC HGNC:11189 protein_coding YES CCDS9523.1 ENSP00000330218 O00570 UPI0000190FB0 NM_005986.2 tolerated(0.42) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF40,Gene3D:1.10.30.10 MODERATE 1 SNV PASS GTG . . 112068548 JPH4 . GRCh38 chr14 23576344 23576344 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.492T>G p.Asp164Glu p.D164E ENST00000397118 4/7 99 87 12 39 38 0 JPH4,missense_variant,p.Asp164Glu,ENST00000397118,NM_032452.2;JPH4,missense_variant,p.Asp164Glu,ENST00000356300,NM_001146028.1;JPH4,missense_variant,p.Asp165Glu,ENST00000622501,;JPH4,upstream_gene_variant,,ENST00000544177,;JPH4,non_coding_transcript_exon_variant,,ENST00000553505,; C ENSG00000092051 ENST00000397118 Transcript missense_variant 1395/4386 492/1887 164/628 D/E gaT/gaG 1 -1 JPH4 HGNC HGNC:20156 protein_coding YES CCDS9603.1 ENSP00000380307 Q96JJ6 UPI00001C1F68 NM_032452.2 tolerated(1) benign(0.135) 4/7 PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF14,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 23576344 FOXG1 . GRCh38 chr14 28767569 28767569 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.290A>C p.Lys97Thr p.K97T ENST00000313071 1/1 85 56 15 30 30 0 FOXG1,missense_variant,p.Lys97Thr,ENST00000313071,NM_005249.4;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000637351,;FOXG1,downstream_gene_variant,,ENST00000637817,;,regulatory_region_variant,,ENSR00000067057,; C ENSG00000176165 ENST00000313071 Transcript missense_variant 2182/4890 290/1470 97/489 K/T aAg/aCg 1 1 FOXG1 HGNC HGNC:3811 protein_coding YES CCDS9636.1 ENSP00000339004 P55316 UPI00001AE46C NM_005249.4 tolerated_low_confidence(0.24) possibly_damaging(0.727) 1/1 Low_complexity_(Seg):seg,mobidb-lite,Superfamily_domains:SSF81995,hmmpanther:PTHR11829:SF316,hmmpanther:PTHR11829 MODERATE SNV 1 PASS AAG . . 28767569 CKB . GRCh38 chr14 103522764 103522764 + Splice_Site SNP A A C novel 7316-156 BS_S0WS43HJ A A c.-13+2T>G ENST00000348956 84 72 7 26 26 0 CKB,splice_donor_variant,,ENST00000348956,NM_001823.4;CKB,splice_donor_variant,,ENST00000557530,;CKB,upstream_gene_variant,,ENST00000553610,;CKB,upstream_gene_variant,,ENST00000553878,;CKB,upstream_gene_variant,,ENST00000555039,;AL133367.1,downstream_gene_variant,,ENST00000568177,;CKB,splice_donor_variant,,ENST00000553652,;CKB,splice_donor_variant,,ENST00000554426,;CKB,splice_donor_variant,,ENST00000554705,;CKB,splice_donor_variant,,ENST00000555659,;CKB,splice_donor_variant,,ENST00000555770,;CKB,upstream_gene_variant,,ENST00000553528,;CKB,upstream_gene_variant,,ENST00000553994,;CKB,upstream_gene_variant,,ENST00000554282,;CKB,upstream_gene_variant,,ENST00000554989,;CKB,upstream_gene_variant,,ENST00000555366,;CKB,upstream_gene_variant,,ENST00000557287,;CKB,upstream_gene_variant,,ENST00000557569,;,regulatory_region_variant,,ENSR00000073571,; C ENSG00000166165 ENST00000348956 Transcript splice_donor_variant 1 -1 CKB HGNC HGNC:1991 protein_coding YES CCDS9981.1 ENSP00000299198 P12277 V9HWH2 UPI000012DCBA NM_001823.4 1/7 HIGH 1 SNV 1 PASS CAC . . 103522764 KIF26A . GRCh38 chr14 104139100 104139100 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.100A>C p.Lys34Gln p.K34Q ENST00000423312 2/15 93 82 8 38 38 0 KIF26A,missense_variant,p.Lys34Gln,ENST00000423312,NM_015656.1;KIF26A,5_prime_UTR_variant,,ENST00000315264,;AL359399.1,upstream_gene_variant,,ENST00000557610,; C ENSG00000066735 ENST00000423312 Transcript missense_variant 100/5649 100/5649 34/1882 K/Q Aag/Cag 1 1 KIF26A HGNC HGNC:20226 protein_coding YES CCDS45171.1 ENSP00000388241 Q9ULI4 UPI00006C145D NM_015656.1 deleterious(0.03) possibly_damaging(0.908) 2/15 mobidb-lite MODERATE SNV 5 PASS AAA . . 104139100 AHNAK2 . GRCh38 chr14 104952324 104952324 + Missense_Mutation SNP T T C rs200259651 7316-156 BS_S0WS43HJ T T c.3127A>G p.Thr1043Ala p.T1043A ENST00000333244 7/7 83 62 12 29 28 1 AHNAK2,missense_variant,p.Thr1043Ala,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; C ENSG00000185567 ENST00000333244 Transcript missense_variant 3247/18254 3127/17388 1043/5795 T/A Acc/Gcc rs200259651 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.23) benign(0.001) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS GTC . . 0.00225 0.01164 0.0005607 0.0003087 0.01798 0.0001366 0.001923 0.002699 104952324 AHNAK2 . GRCh38 chr14 104952357 104952357 + Missense_Mutation SNP G G C rs140208061 7316-156 BS_S0WS43HJ G G c.3094C>G p.Leu1032Val p.L1032V ENST00000333244 7/7 90 73 13 29 29 0 AHNAK2,missense_variant,p.Leu1032Val,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; C ENSG00000185567 ENST00000333244 Transcript missense_variant 3214/18254 3094/17388 1032/5795 L/V Ctg/Gtg rs140208061,COSM2027235 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.0018 0.0023 0.0029 0.002 0.002 0.0002528 0.0001203 0,1 MODERATE 1 SNV 5 0,1 PASS AGG . . 0.001578 0.005235 0.001435 0.0007257 0.007007 0.0006358 0.0005832 0.001163 0.002322 104952357 AHNAK2 . GRCh38 chr14 104952393 104952393 + Missense_Mutation SNP A A T rs745684002 7316-156 BS_S0WS43HJ A A c.3058T>A p.Leu1020Met p.L1020M ENST00000333244 7/7 82 71 8 34 32 0 AHNAK2,missense_variant,p.Leu1020Met,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; T ENSG00000185567 ENST00000333244 Transcript missense_variant 3178/18254 3058/17388 1020/5795 L/M Ttg/Atg rs745684002 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 deleterious(0.01) benign(0.264) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS AAG . . 0.0001135 0.0007378 6.125e-05 0.0008308 0.0001016 104952393 APBA2 . GRCh38 chr15 28886281 28886281 + Splice_Region SNP A A C novel 7316-156 BS_S0WS43HJ A A c.-295+3A>C ENST00000558402 102 91 9 27 26 0 APBA2,splice_region_variant,,ENST00000558330,;APBA2,splice_region_variant,,ENST00000558402,NM_001353788.1;APBA2,splice_region_variant,,ENST00000559709,;APBA2,intron_variant,,ENST00000561069,;APBA2,splice_region_variant,,ENST00000559814,;,regulatory_region_variant,,ENSR00000074255,; C ENSG00000034053 ENST00000558402 Transcript splice_region_variant,intron_variant 1 1 APBA2 HGNC HGNC:579 protein_coding YES CCDS10022.1 ENSP00000453293 Q99767 UPI0000046798 NM_001353788.1 1/15 LOW 1 SNV 5 PASS TAA . . 28886281 AP3B2 . GRCh38 chr15 82680191 82680191 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.1094T>G p.Met365Arg p.M365R ENST00000535359 9/27 93 82 9 45 45 0 AP3B2,missense_variant,p.Met365Arg,ENST00000261722,;AP3B2,missense_variant,p.Met365Arg,ENST00000620652,NM_004644.4;AP3B2,missense_variant,p.Met408Arg,ENST00000642989,;AP3B2,missense_variant,p.Met365Arg,ENST00000535359,NM_001278512.1;AP3B2,missense_variant,p.Met333Arg,ENST00000535348,NM_001278511.1;AP3B2,downstream_gene_variant,,ENST00000541693,;AP3B2,downstream_gene_variant,,ENST00000542200,NM_001348440.1;CPEB1-AS1,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000543938,;AP3B2,downstream_gene_variant,,ENST00000535385,;AP3B2,downstream_gene_variant,,ENST00000559888,; C ENSG00000103723 ENST00000535359 Transcript missense_variant 1167/3402 1094/3306 365/1101 M/R aTg/aGg 1 -1 AP3B2 HGNC HGNC:567 protein_coding YES CCDS61737.1 ENSP00000440984 Q13367 UPI0001917049 NM_001278512.1 deleterious(0) probably_damaging(0.974) 9/27 hmmpanther:PTHR11134:SF11,hmmpanther:PTHR11134,Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037096,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 1 PASS CAT . . 82680191 HOMER2 . GRCh38 chr15 82952534 82952534 + Translation_Start_Site SNP A A C novel 7316-156 BS_S0WS43HJ A A c.2T>G p.Met1? p.M1? ENST00000304231 1/9 89 79 9 43 42 0 HOMER2,start_lost,p.Met1?,ENST00000304231,NM_199330.2;HOMER2,start_lost,p.Met1?,ENST00000450735,NM_004839.3;AC022558.2,intron_variant,,ENST00000566841,;HOMER2,intron_variant,,ENST00000560374,;HOMER2,intron_variant,,ENST00000619367,;,regulatory_region_variant,,ENSR00000080265,; C ENSG00000103942 ENST00000304231 Transcript start_lost 195/1990 2/1065 1/354 M/R aTg/aGg 1 -1 HOMER2 HGNC HGNC:17513 protein_coding YES CCDS45334.1 ENSP00000305632 Q9NSB8 UPI000006D53F NM_199330.2 deleterious(0) benign(0.13) 1/9 PROSITE_profiles:PS50229,hmmpanther:PTHR10918:SF2,hmmpanther:PTHR10918,Gene3D:2.30.29.30,SMART_domains:SM00461,Superfamily_domains:SSF50729 HIGH 1 SNV 5 1 PASS CAT . . 82952534 ADAMTSL3 . GRCh38 chr15 83943051 83943051 + Missense_Mutation SNP C C T rs555290943 7316-156 BS_S0WS43HJ C C c.2459C>T p.Pro820Leu p.P820L ENST00000286744 19/30 114 83 31 39 38 0 ADAMTSL3,missense_variant,p.Pro820Leu,ENST00000286744,NM_207517.2;ADAMTSL3,missense_variant,p.Pro820Leu,ENST00000567476,NM_001301110.1;ADAMTSL3,upstream_gene_variant,,ENST00000562296,;ADAMTSL3,upstream_gene_variant,,ENST00000567716,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,; T ENSG00000156218 ENST00000286744 Transcript missense_variant 2683/7336 2459/5076 820/1691 P/L cCt/cTt rs555290943 1 1 ADAMTSL3 HGNC HGNC:14633 protein_coding YES CCDS10326.1 ENSP00000286744 P82987 UPI00001615A5 NM_207517.2 tolerated(0.08) probably_damaging(0.997) 19/30 Gene3D:2.20.100.10,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169,SMART_domains:SM00209,Superfamily_domains:SSF82895 0.0004 0.002 MODERATE 1 SNV 1 PASS CCT . . 2.861e-05 0.0001163 4.524e-05 83943051 IGFALS . GRCh38 chr16 1793639 1793639 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.14A>C p.Lys5Thr p.K5T ENST00000415638 1/2 100 83 15 34 33 0 IGFALS,missense_variant,p.Lys5Thr,ENST00000415638,NM_001146006.1;IGFALS,missense_variant,p.Lys5Thr,ENST00000215539,NM_004970.2;SPSB3,splice_region_variant,,ENST00000569769,;IGFALS,intron_variant,,ENST00000568221,;NUBP2,downstream_gene_variant,,ENST00000262302,NM_012225.3;HAGH,downstream_gene_variant,,ENST00000564445,;NUBP2,downstream_gene_variant,,ENST00000565987,NM_001284501.1;NUBP2,downstream_gene_variant,,ENST00000568706,NM_001284502.1;NUBP2,downstream_gene_variant,,ENST00000565603,;NUBP2,downstream_gene_variant,,ENST00000567700,;NUBP2,downstream_gene_variant,,ENST00000568834,;NUBP2,downstream_gene_variant,,ENST00000569898,;,regulatory_region_variant,,ENSR00000082387,; G ENSG00000099769 ENST00000415638 Transcript missense_variant,splice_region_variant 94/2136 14/1932 5/643 K/T aAa/aCa 1 -1 IGFALS HGNC HGNC:5468 protein_coding YES CCDS53982.1 ENSP00000416683 P35858 UPI00019863AB NM_001146006.1 deleterious_low_confidence(0) benign(0.003) 1/2 MODERATE SNV 2 1 PASS TTT . . 1793639 NPIPB2 . GRCh38 chr16 11927609 11927609 + Missense_Mutation SNP G G T rs774326444 7316-156 BS_S0WS43HJ G G c.958C>A p.Leu320Ile p.L320I ENST00000399147 8/8 103 90 12 44 43 0 NPIPB2,missense_variant,p.Leu320Ile,ENST00000399147,;NPIPB2,missense_variant,p.Leu303Ile,ENST00000547494,;NPIPB2,downstream_gene_variant,,ENST00000538896,;NPIPB2,downstream_gene_variant,,ENST00000620285,;NPIPB2,non_coding_transcript_exon_variant,,ENST00000540412,;NPIPB2,downstream_gene_variant,,ENST00000356023,;AC007216.5,downstream_gene_variant,,ENST00000612457,; T ENSG00000234719 ENST00000399147 Transcript missense_variant 958/1194 958/1194 320/397 L/I Ctc/Atc rs774326444 1 -1 NPIPB2 HGNC HGNC:37451 protein_coding YES ENSP00000382101 A6NJ64 A0A0A6YYH2 UPI000204A8FF deleterious_low_confidence(0.02) possibly_damaging(0.711) 8/8 hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF5,mobidb-lite MODERATE 1 SNV 5 PASS AGA . . 11927609 PRSS53 . GRCh38 chr16 31085006 31085006 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.1053A>C p.Glu351Asp p.E351D ENST00000280606 8/11 114 101 12 51 50 0 PRSS53,missense_variant,p.Glu351Asp,ENST00000280606,NM_001039503.2;ZNF646,downstream_gene_variant,,ENST00000300850,NM_014699.3;ZNF646,downstream_gene_variant,,ENST00000394979,;AC135050.2,downstream_gene_variant,,ENST00000529564,;AC135050.2,downstream_gene_variant,,ENST00000532364,;AC135050.2,3_prime_UTR_variant,,ENST00000533518,;PRSS53,non_coding_transcript_exon_variant,,ENST00000486499,;PRSS53,downstream_gene_variant,,ENST00000492427,;,regulatory_region_variant,,ENSR00000085296,; G ENSG00000151006 ENST00000280606 Transcript missense_variant 1207/2181 1053/1662 351/553 E/D gaA/gaC 1 -1 PRSS53 HGNC HGNC:34407 protein_coding YES CCDS42153.1 ENSP00000280606 Q2L4Q9 UPI000059D375 NM_001039503.2 tolerated(0.3) benign(0.046) 8/11 cd00190,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24276,hmmpanther:PTHR24276:SF61 MODERATE 1 SNV 1 PASS ATT . . 31085006 AC009055.2 . GRCh38 chr16 65233889 65233889 + Splice_Region SNP G G A novel 7316-156 BS_S0WS43HJ G G n.30-4C>T ENST00000567058 73 52 20 36 36 0 AC009055.2,splice_region_variant,,ENST00000567058,;AC009055.1,intron_variant,,ENST00000562656,;AC009055.2,intron_variant,,ENST00000565901,; A ENSG00000260834 ENST00000567058 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AC009055.2 Clone_based_ensembl_gene lincRNA YES 1/3 LOW SNV 5 PASS GGG . . 65233889 CES3 . GRCh38 chr16 66963474 66963503 + Splice_Site DEL CCCACCCTTGGCCACAGGTGCCTACAAGAC CCCACCCTTGGCCACAGGTGCCTACAAGAC - novel 7316-156 BS_S0WS43HJ CCCACCCTTGGCCACAGGTGCCTACAAGAC CCCACCCTTGGCCACAGGTGCCTACAAGAC c.288-17_300del p.X96_splice ENST00000303334 3/13 115 87 28 34 34 0 CES3,splice_acceptor_variant,,ENST00000303334,NM_024922.5;CES3,splice_acceptor_variant,,ENST00000394037,NM_001185177.1;CES3,upstream_gene_variant,,ENST00000543856,NM_001185176.1;AC009084.1,downstream_gene_variant,,ENST00000566869,;CES3,splice_acceptor_variant,,ENST00000570236,;CES3,splice_acceptor_variant,,ENST00000566453,;CES3,splice_acceptor_variant,,ENST00000566746,;CES3,non_coding_transcript_exon_variant,,ENST00000568118,;CES3,upstream_gene_variant,,ENST00000564715,; - ENSG00000172828 ENST00000303334 Transcript splice_acceptor_variant,coding_sequence_variant,intron_variant ?-371/3834 ?-300/1716 ?-100/571 1 1 CES3 HGNC HGNC:1865 protein_coding YES CCDS10826.1 ENSP00000304782 Q6UWW8 UPI0000047824 NM_024922.5 3/13 2/12 HIGH 1 deletion 1 PASS GGCCCACCCTTGGCCACAGGTGCCTACAAGACG . . 66963473 TMEM102 . GRCh38 chr17 7436970 7436970 + Missense_Mutation SNP G G T rs868056309 7316-156 BS_S0WS43HJ G G c.991G>T p.Ala331Ser p.A331S ENST00000323206 3/3 126 93 31 36 36 0 TMEM102,missense_variant,p.Ala331Ser,ENST00000323206,NM_178518.2;TMEM102,missense_variant,p.Ala331Ser,ENST00000396568,NM_001320444.1;FGF11,upstream_gene_variant,,ENST00000293829,NM_001303460.1,NM_004112.3;FGF11,upstream_gene_variant,,ENST00000572907,;FGF11,upstream_gene_variant,,ENST00000575082,;FGF11,upstream_gene_variant,,ENST00000575235,;FGF11,upstream_gene_variant,,ENST00000575398,;SPEM3,downstream_gene_variant,,ENST00000636696,;AC113189.1,intron_variant,,ENST00000570444,;AC113189.3,downstream_gene_variant,,ENST00000576615,;AC113189.2,intron_variant,,ENST00000575310,;AC113189.4,upstream_gene_variant,,ENST00000575331,;FGF11,upstream_gene_variant,,ENST00000576328,;,regulatory_region_variant,,ENSR00000282291,; T ENSG00000181284 ENST00000323206 Transcript missense_variant 1264/1973 991/1527 331/508 A/S Gct/Tct rs868056309 1 1 TMEM102 HGNC HGNC:26722 protein_coding YES CCDS11104.1 ENSP00000315387 Q8N9M5 UPI000000DB5A NM_178518.2 deleterious(0.01) possibly_damaging(0.478) 3/3 hmmpanther:PTHR10656:SF48,hmmpanther:PTHR10656,Pfam_domain:PF03281,SMART_domains:SM01265 MODERATE 1 SNV 1 PASS GGC . . 7436970 MYO15A . GRCh38 chr17 18121781 18121781 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.2981A>C p.His994Pro p.H994P ENST00000205890 2/66 101 88 9 37 32 2 MYO15A,missense_variant,p.His994Pro,ENST00000205890,NM_016239.3;MYO15A,missense_variant,p.His994Pro,ENST00000615845,;MYO15A,missense_variant,p.His994Pro,ENST00000647165,;MYO15A,non_coding_transcript_exon_variant,,ENST00000583079,;,regulatory_region_variant,,ENSR00000092046,; C ENSG00000091536 ENST00000205890 Transcript missense_variant 3319/11867 2981/10593 994/3530 H/P cAt/cCt 1 1 MYO15A HGNC HGNC:7594 protein_coding YES CCDS42271.1 ENSP00000205890 Q9UKN7 UPI0000E59E6E NM_016239.3 tolerated_low_confidence(0.12) benign(0.011) 2/66 hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF379,mobidb-lite MODERATE 1 SNV 5 1 PASS CAT . . 18121781 SARM1 . GRCh38 chr17 28372034 28372034 + Translation_Start_Site SNP T T G novel 7316-156 BS_S0WS43HJ T T c.2T>G p.Met1? p.M1? ENST00000585482 1/9 90 77 12 41 39 1 SARM1,start_lost,p.Met1?,ENST00000585482,NM_015077.3;VTN,intron_variant,,ENST00000542029,;VTN,upstream_gene_variant,,ENST00000226218,NM_000638.3;AC002094.3,upstream_gene_variant,,ENST00000555059,;AC002094.4,upstream_gene_variant,,ENST00000613598,;SARM1,intron_variant,,ENST00000379061,;AC002094.1,intron_variant,,ENST00000591482,;AC002094.5,downstream_gene_variant,,ENST00000623773,;VTN,upstream_gene_variant,,ENST00000539746,;,regulatory_region_variant,,ENSR00000092709,; G ENSG00000004139 ENST00000585482 Transcript start_lost 373/10309 2/2175 1/724 M/R aTg/aGg 1 1 SARM1 HGNC HGNC:17074 protein_coding YES CCDS11230.2 ENSP00000468032 Q6SZW1 UPI000021FB54 NM_015077.3 deleterious_low_confidence(0) possibly_damaging(0.462) 1/9 hmmpanther:PTHR22998,Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 28372034 SRCIN1 . GRCh38 chr17 38561911 38561911 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.1252T>G p.Phe418Val p.F418V ENST00000617146 7/19 99 81 10 38 38 0 SRCIN1,missense_variant,p.Phe418Val,ENST00000617146,NM_025248.2;SRCIN1,missense_variant,p.Phe452Val,ENST00000621492,;SRCIN1,missense_variant,p.Phe206Val,ENST00000622190,;SRCIN1,downstream_gene_variant,,ENST00000612431,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000621763,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000622519,;SRCIN1,upstream_gene_variant,,ENST00000612208,; C ENSG00000277363 ENST00000617146 Transcript missense_variant 1477/7058 1252/3552 418/1183 F/V Ttc/Gtc 1 -1 SRCIN1 HGNC HGNC:29506 protein_coding YES CCDS45660.1 ENSP00000484715 Q9C0H9 UPI0000E27F82 NM_025248.2 tolerated(0.17) benign(0.033) 7/19 hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF5 MODERATE 1 SNV 1 PASS AAC . . 38561911 GSDMA . GRCh38 chr17 39972168 39972168 + Missense_Mutation SNP C C A novel 7316-156 BS_S0WS43HJ C C c.695C>A p.Pro232His p.P232H ENST00000301659 6/12 59 42 17 33 26 0 GSDMA,missense_variant,p.Pro232His,ENST00000301659,NM_178171.4;GSDMA,missense_variant,p.Pro232His,ENST00000635792,;GSDMA,downstream_gene_variant,,ENST00000577447,;,regulatory_region_variant,,ENSR00000094012,; A ENSG00000167914 ENST00000301659 Transcript missense_variant 813/2164 695/1338 232/445 P/H cCt/cAt 1 1 GSDMA HGNC HGNC:13311 protein_coding YES CCDS45669.1 ENSP00000301659 Q96QA5 UPI0000140D2A NM_178171.4 deleterious(0.02) possibly_damaging(0.689) 6/12 Pfam_domain:PF04598,hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF18 MODERATE 1 SNV 1 PASS CCT . . 39972168 FMNL1 . GRCh38 chr17 45222200 45222200 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.76A>C p.Lys26Gln p.K26Q ENST00000331495 1/27 94 75 12 33 32 0 FMNL1,missense_variant,p.Lys26Gln,ENST00000331495,NM_005892.3;FMNL1,intron_variant,,ENST00000328118,;AC008105.3,non_coding_transcript_exon_variant,,ENST00000591365,;AC008105.3,upstream_gene_variant,,ENST00000585471,;AC008105.3,upstream_gene_variant,,ENST00000586376,;AC008105.3,upstream_gene_variant,,ENST00000590495,;AC008105.3,upstream_gene_variant,,ENST00000590522,;FMNL1,downstream_gene_variant,,ENST00000592415,;,regulatory_region_variant,,ENSR00000283521,; C ENSG00000184922 ENST00000331495 Transcript missense_variant 412/4101 76/3303 26/1100 K/Q Aag/Cag 1 1 FMNL1 HGNC HGNC:1212 protein_coding YES CCDS11497.1 ENSP00000329219 O95466 UPI0000246EE9 NM_005892.3 tolerated(0.12) possibly_damaging(0.781) 1/27 hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAA . . 45222200 PPM1D . GRCh38 chr17 60600773 60600773 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.359T>G p.Leu120Trp p.L120W ENST00000305921 1/6 129 117 8 46 46 0 PPM1D,missense_variant,p.Leu120Trp,ENST00000305921,NM_003620.3;PPM1D,missense_variant,p.Leu120Trp,ENST00000629650,;PPM1D,upstream_gene_variant,,ENST00000590418,;PPM1D,missense_variant,p.Leu120Trp,ENST00000392995,;,regulatory_region_variant,,ENSR00000096503,; G ENSG00000170836 ENST00000305921 Transcript missense_variant 591/4778 359/1818 120/605 L/W tTg/tGg 1 1 PPM1D HGNC HGNC:9277 protein_coding YES CCDS11625.1 ENSP00000306682 O15297 A0A0S2Z4M2 UPI0000130FE8 NM_003620.3 deleterious(0) probably_damaging(1) 1/6 PROSITE_profiles:PS51746,cd00143,hmmpanther:PTHR13832:SF359,hmmpanther:PTHR13832,Pfam_domain:PF00481,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606 MODERATE 1 SNV 1 1 PASS TTG . . 60600773 BPTF . GRCh38 chr17 67825830 67825830 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.106A>C p.Ile36Leu p.I36L ENST00000306378 1/28 105 88 11 36 36 0 BPTF,missense_variant,p.Ile36Leu,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Ile36Leu,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Ile36Leu,ENST00000544778,;BPTF,upstream_gene_variant,,ENST00000335221,;BPTF,upstream_gene_variant,,ENST00000342579,;BPTF,upstream_gene_variant,,ENST00000424123,;BPTF,upstream_gene_variant,,ENST00000644067,;,regulatory_region_variant,,ENSR00000097434,; C ENSG00000171634 ENST00000306378 Transcript missense_variant 166/9688 106/8763 36/2920 I/L Atc/Ctc 1 1 BPTF HGNC HGNC:3581 protein_coding YES CCDS11673.1 ENSP00000307208 Q12830 UPI00002263BF NM_182641.3 tolerated_low_confidence(0.23) benign(0.003) 1/28 mobidb-lite MODERATE 1 SNV 1 1 PASS CAT . . 67825830 AATK . GRCh38 chr17 81120036 81120036 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.3783A>C p.Glu1261Asp p.E1261D ENST00000326724 12/14 83 69 9 28 28 0 AATK,missense_variant,p.Glu1261Asp,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Glu1158Asp,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,3_prime_UTR_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,; G ENSG00000181409 ENST00000326724 Transcript missense_variant 3808/5257 3783/4125 1261/1374 E/D gaA/gaC 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 tolerated(0.16) possibly_damaging(0.563) 12/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,mobidb-lite MODERATE SNV 5 PASS ATT . . 81120036 AATK . GRCh38 chr17 81120475 81120475 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.3461T>G p.Leu1154Trp p.L1154W ENST00000326724 11/14 103 91 10 51 51 0 AATK,missense_variant,p.Leu1154Trp,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Leu1051Trp,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;MIR657,downstream_gene_variant,,ENST00000385003,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,intron_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,; C ENSG00000181409 ENST00000326724 Transcript missense_variant 3486/5257 3461/4125 1154/1374 L/W tTg/tGg 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 tolerated(0.19) benign(0.318) 11/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS CAA . . 81120475 SBNO2 . GRCh38 chr19 1108384 1108384 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.3937A>C p.Lys1313Gln p.K1313Q ENST00000361757 32/32 102 80 10 29 28 0 SBNO2,missense_variant,p.Lys1313Gln,ENST00000361757,NM_014963.2;SBNO2,missense_variant,p.Lys1303Gln,ENST00000587024,;SBNO2,missense_variant,p.Lys1256Gln,ENST00000438103,NM_001100122.1;GPX4,downstream_gene_variant,,ENST00000354171,NM_002085.4;GPX4,downstream_gene_variant,,ENST00000585362,;GPX4,downstream_gene_variant,,ENST00000587648,;GPX4,downstream_gene_variant,,ENST00000588919,;GPX4,downstream_gene_variant,,ENST00000589115,;GPX4,downstream_gene_variant,,ENST00000593032,;GPX4,downstream_gene_variant,,ENST00000611653,;GPX4,downstream_gene_variant,,ENST00000614791,;GPX4,downstream_gene_variant,,ENST00000616066,NM_001039847.2;GPX4,downstream_gene_variant,,ENST00000622390,NM_001039848.2;GPX4,downstream_gene_variant,,ENST00000585480,;SBNO2,downstream_gene_variant,,ENST00000586109,;SBNO2,downstream_gene_variant,,ENST00000587673,;GPX4,downstream_gene_variant,,ENST00000587932,;GPX4,downstream_gene_variant,,ENST00000592940,;,regulatory_region_variant,,ENSR00000105621,; G ENSG00000064932 ENST00000361757 Transcript missense_variant 4175/4923 3937/4101 1313/1366 K/Q Aag/Cag 1 -1 SBNO2 HGNC HGNC:29158 protein_coding YES CCDS45894.1 ENSP00000354733 Q9Y2G9 UPI0000140680 NM_014963.2 deleterious_low_confidence(0.01) benign(0.081) 32/32 MODERATE 1 SNV 1 PASS TTG . . 1108384 CBARP . GRCh38 chr19 1237753 1237753 + Splice_Region SNP T T G novel 7316-156 BS_S0WS43HJ T T c.-22+3A>C ENST00000590083 78 60 14 49 48 0 CBARP,splice_region_variant,,ENST00000382477,;CBARP,splice_region_variant,,ENST00000590083,NM_152769.2;ATP5F1D,upstream_gene_variant,,ENST00000215375,NM_001687.4;ATP5F1D,upstream_gene_variant,,ENST00000395633,NM_001001975.1;ATP5F1D,upstream_gene_variant,,ENST00000591249,;ATP5F1D,upstream_gene_variant,,ENST00000591660,;AC004221.1,upstream_gene_variant,,ENST00000592843,;CBARP,splice_region_variant,,ENST00000215376,;CBARP,splice_region_variant,,ENST00000589260,;ATP5F1D,upstream_gene_variant,,ENST00000588538,;ATP5F1D,upstream_gene_variant,,ENST00000590265,;CBARP,upstream_gene_variant,,ENST00000591127,;ATP5F1D,upstream_gene_variant,,ENST00000592624,;,regulatory_region_variant,,ENSR00000286983,; G ENSG00000099625 ENST00000590083 Transcript splice_region_variant,intron_variant 1 -1 CBARP HGNC HGNC:28617 protein_coding YES CCDS12057.2 ENSP00000465260 Q8N350 UPI000059D617 NM_152769.2 1/8 LOW 1 SNV 1 PASS CTA . . 1237753 SEMA6B . GRCh38 chr19 4543823 4543823 + Missense_Mutation SNP A A C novel 7316-156 BS_S0WS43HJ A A c.2445T>G p.Asp815Glu p.D815E ENST00000586582 17/17 114 100 10 40 39 0 SEMA6B,missense_variant,p.Asp815Glu,ENST00000586582,NM_032108.3;SEMA6B,intron_variant,,ENST00000586965,;LRG1,upstream_gene_variant,,ENST00000306390,NM_052972.2;LRG1,upstream_gene_variant,,ENST00000586883,;AC011498.4,upstream_gene_variant,,ENST00000586020,;SEMA6B,downstream_gene_variant,,ENST00000589889,;,regulatory_region_variant,,ENSR00000106224,; C ENSG00000167680 ENST00000586582 Transcript missense_variant 2756/3986 2445/2667 815/888 D/E gaT/gaG 1 -1 SEMA6B HGNC HGNC:10739 protein_coding YES CCDS12131.1 ENSP00000467290 Q9H3T3 UPI000004BA6B NM_032108.3 tolerated(0.63) benign(0.007) 17/17 mobidb-lite,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10 MODERATE 1 SNV 1 PASS CAT . . 4543823 RNASEH2A . GRCh38 chr19 12813094 12813094 + Missense_Mutation SNP A A G novel 7316-156 BS_S0WS43HJ A A c.649A>G p.Lys217Glu p.K217E ENST00000221486 7/8 101 83 18 33 30 0 RNASEH2A,missense_variant,p.Lys217Glu,ENST00000221486,NM_006397.2;HOOK2,intron_variant,,ENST00000589765,;THSD8,3_prime_UTR_variant,,ENST00000639767,;RNASEH2A,3_prime_UTR_variant,,ENST00000646769,;RNASEH2A,non_coding_transcript_exon_variant,,ENST00000593017,;RNASEH2A,non_coding_transcript_exon_variant,,ENST00000643757,; G ENSG00000104889 ENST00000221486 Transcript missense_variant 767/2753 649/900 217/299 K/E Aaa/Gaa 1 1 RNASEH2A HGNC HGNC:18518 protein_coding YES CCDS12282.1 ENSP00000221486 O75792 UPI00001343E6 NM_006397.2 deleterious(0) probably_damaging(0.964) 7/8 PDB-ENSP_mappings:3p56.A,PDB-ENSP_mappings:3p56.D,PDB-ENSP_mappings:3puf.A,PDB-ENSP_mappings:3puf.D,PDB-ENSP_mappings:3puf.G,PDB-ENSP_mappings:3puf.J,PDB-ENSP_mappings:3puf.M,PDB-ENSP_mappings:3puf.P,cd07181,hmmpanther:PTHR10954:SF7,hmmpanther:PTHR10954,Gene3D:1.10.10.460,TIGRFAM_domain:TIGR00729,Pfam_domain:PF01351,Superfamily_domains:SSF53098 MODERATE 1 SNV 1 1 PASS AAA . . 12813094 NDUFB7 . GRCh38 chr19 14566263 14566263 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.284A>C p.Tyr95Ser p.Y95S ENST00000215565 3/3 109 91 14 26 24 0 NDUFB7,missense_variant,p.Tyr95Ser,ENST00000215565,NM_004146.5;TECR,downstream_gene_variant,,ENST00000215567,NM_138501.5;TECR,downstream_gene_variant,,ENST00000596073,NM_001321170.1;TECR,downstream_gene_variant,,ENST00000601187,;TECR,downstream_gene_variant,,ENST00000596164,;TECR,downstream_gene_variant,,ENST00000598298,;TECR,downstream_gene_variant,,ENST00000598715,;TECR,downstream_gene_variant,,ENST00000598918,;TECR,downstream_gene_variant,,ENST00000600083,;TECR,downstream_gene_variant,,ENST00000642961,;NDUFB7,splice_region_variant,,ENST00000593353,;TECR,downstream_gene_variant,,ENST00000593637,;TECR,downstream_gene_variant,,ENST00000593775,;TECR,downstream_gene_variant,,ENST00000594545,;TECR,downstream_gene_variant,,ENST00000594807,;TECR,downstream_gene_variant,,ENST00000594958,;TECR,downstream_gene_variant,,ENST00000596953,;TECR,downstream_gene_variant,,ENST00000597607,;TECR,downstream_gene_variant,,ENST00000598333,;TECR,downstream_gene_variant,,ENST00000598408,;TECR,downstream_gene_variant,,ENST00000598987,;TECR,downstream_gene_variant,,ENST00000599101,;TECR,downstream_gene_variant,,ENST00000600076,;TECR,downstream_gene_variant,,ENST00000600395,;TECR,downstream_gene_variant,,ENST00000601350,;TECR,downstream_gene_variant,,ENST00000601461,;TECR,downstream_gene_variant,,ENST00000601652,; G ENSG00000099795 ENST00000215565 Transcript missense_variant,splice_region_variant 346/531 284/414 95/137 Y/S tAt/tCt 1 -1 NDUFB7 HGNC HGNC:7702 protein_coding YES CCDS12314.1 ENSP00000215565 P17568 UPI000013C68C NM_004146.5 deleterious(0) probably_damaging(0.996) 3/3 PDB-ENSP_mappings:5xtc.v,PDB-ENSP_mappings:5xtd.v,PDB-ENSP_mappings:5xth.v,PDB-ENSP_mappings:5xti.Bv,PDB-ENSP_mappings:5xti.v,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51808,hmmpanther:PTHR20900,Pfam_domain:PF05676 MODERATE 1 SNV 1 PASS ATA . . 14566263 USHBP1 . GRCh38 chr19 17262856 17262856 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.338A>C p.Asn113Thr p.N113T ENST00000252597 4/13 78 63 14 43 40 0 USHBP1,missense_variant,p.Asn113Thr,ENST00000252597,NM_031941.3,NM_001321417.1;USHBP1,missense_variant,p.Asn49Thr,ENST00000431146,NM_001297703.1;USHBP1,missense_variant,p.Asn113Thr,ENST00000594190,;BABAM1,upstream_gene_variant,,ENST00000359435,NM_001033549.2;BABAM1,upstream_gene_variant,,ENST00000447614,NM_001288757.1;BABAM1,upstream_gene_variant,,ENST00000595632,;BABAM1,upstream_gene_variant,,ENST00000596335,;BABAM1,upstream_gene_variant,,ENST00000598188,NM_001288756.1,NM_014173.3;USHBP1,downstream_gene_variant,,ENST00000598309,;BABAM1,upstream_gene_variant,,ENST00000599057,;BABAM1,upstream_gene_variant,,ENST00000599474,;BABAM1,upstream_gene_variant,,ENST00000601043,;BABAM1,upstream_gene_variant,,ENST00000601436,;USHBP1,non_coding_transcript_exon_variant,,ENST00000598570,;USHBP1,non_coding_transcript_exon_variant,,ENST00000595993,;BABAM1,upstream_gene_variant,,ENST00000448635,;USHBP1,missense_variant,p.Asn113Thr,ENST00000324554,;USHBP1,3_prime_UTR_variant,,ENST00000597928,;BABAM1,upstream_gene_variant,,ENST00000594247,;BABAM1,upstream_gene_variant,,ENST00000595393,;USHBP1,downstream_gene_variant,,ENST00000596436,;AC010463.1,upstream_gene_variant,,ENST00000596542,;USHBP1,downstream_gene_variant,,ENST00000600286,;BABAM1,upstream_gene_variant,,ENST00000601171,; G ENSG00000130307 ENST00000252597 Transcript missense_variant 512/3335 338/2112 113/703 N/T aAt/aCt 1 -1 USHBP1 HGNC HGNC:24058 protein_coding YES CCDS12353.1 ENSP00000252597 Q8N6Y0 A0A024R7H3 UPI000006F7A8 NM_031941.3,NM_001321417.1 tolerated(0.76) benign(0) 4/13 mobidb-lite,hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF5 MODERATE 1 SNV 1 PASS ATT . . 17262856 CRLF1 . GRCh38 chr19 18594436 18594436 + Splice_Site SNP T T G novel 7316-156 BS_S0WS43HJ T T c.1025-2A>C p.X342_splice ENST00000392386 59 48 10 21 21 0 CRLF1,splice_acceptor_variant,,ENST00000392386,NM_004750.4;CRLF1,splice_acceptor_variant,,ENST00000597131,;REX1BD,downstream_gene_variant,,ENST00000358607,NM_001100418.1;REX1BD,downstream_gene_variant,,ENST00000450195,NM_001100419.1;REX1BD,downstream_gene_variant,,ENST00000595490,;CRLF1,upstream_gene_variant,,ENST00000594325,;REX1BD,downstream_gene_variant,,ENST00000595077,;CRLF1,upstream_gene_variant,,ENST00000596360,;REX1BD,downstream_gene_variant,,ENST00000597371,;REX1BD,downstream_gene_variant,,ENST00000598375,;REX1BD,downstream_gene_variant,,ENST00000600997,;REX1BD,downstream_gene_variant,,ENST00000601736,;,regulatory_region_variant,,ENSR00000108112,; G ENSG00000006016 ENST00000392386 Transcript splice_acceptor_variant 1 -1 CRLF1 HGNC HGNC:2364 protein_coding YES CCDS32962.1 ENSP00000376188 O75462 UPI000000DA9E NM_004750.4 6/8 HIGH 1 SNV 1 1 PASS CTG . . 18594436 UPF1 . GRCh38 chr19 18853274 18853274 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.1113T>G p.Asp371Glu p.D371E ENST00000599848 8/24 70 60 10 35 35 0 UPF1,missense_variant,p.Asp360Glu,ENST00000262803,NM_002911.3;UPF1,missense_variant,p.Asp371Glu,ENST00000599848,NM_001297549.1;UPF1,downstream_gene_variant,,ENST00000594504,;UPF1,downstream_gene_variant,,ENST00000598209,;UPF1,downstream_gene_variant,,ENST00000598471,;UPF1,downstream_gene_variant,,ENST00000600012,;UPF1,downstream_gene_variant,,ENST00000600310,;UPF1,downstream_gene_variant,,ENST00000600868,;UPF1,downstream_gene_variant,,ENST00000601981,;UPF1,non_coding_transcript_exon_variant,,ENST00000601689,;UPF1,upstream_gene_variant,,ENST00000594243,; G ENSG00000005007 ENST00000599848 Transcript missense_variant 1322/5311 1113/3390 371/1129 D/E gaT/gaG 1 1 UPF1 HGNC HGNC:9962 protein_coding YES CCDS74315.1 ENSP00000470142 Q92900 A0A024R7L8 UPI00001344ED NM_001297549.1 deleterious(0) probably_damaging(0.963) 8/24 hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF388 MODERATE 1 SNV 1 PASS ATG . . 18853274 ZNF536 . GRCh38 chr19 30548788 30548788 + Missense_Mutation SNP T T A novel 7316-156 BS_S0WS43HJ T T c.3169T>A p.Leu1057Ile p.L1057I ENST00000355537 4/5 81 57 20 32 31 0 ZNF536,missense_variant,p.Leu1057Ile,ENST00000355537,NM_014717.2;ZNF536,downstream_gene_variant,,ENST00000585628,;ZNF536,upstream_gene_variant,,ENST00000592773,; A ENSG00000198597 ENST00000355537 Transcript missense_variant 3316/4945 3169/3903 1057/1300 L/I Tta/Ata 1 1 ZNF536 HGNC HGNC:29025 protein_coding YES CCDS32984.1 ENSP00000347730 O15090 UPI000006ED3E NM_014717.2 tolerated_low_confidence(0.97) benign(0) 4/5 hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5 MODERATE 1 SNV 1 PASS GTT . . 30548788 SBSN . GRCh38 chr19 35527136 35527136 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.1146A>C p.Glu382Asp p.E382D ENST00000452271 1/4 109 87 9 27 26 0 SBSN,missense_variant,p.Glu382Asp,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; G ENSG00000189001 ENST00000452271 Transcript missense_variant 1175/1945 1146/1773 382/590 E/D gaA/gaC 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 deleterious(0.03) benign(0.053) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3 MODERATE 1 SNV 1 PASS CTT . . 35527136 ARHGAP33 . GRCh38 chr19 35787695 35787695 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.2647T>G p.Phe883Val p.F883V ENST00000314737 21/21 95 72 18 29 26 0 ARHGAP33,missense_variant,p.Phe880Val,ENST00000378944,NM_001172630.1;ARHGAP33,missense_variant,p.Phe883Val,ENST00000314737,NM_052948.3;ARHGAP33,missense_variant,p.Phe620Val,ENST00000587447,;ARHGAP33,intron_variant,,ENST00000007510,;ARHGAP33,intron_variant,,ENST00000588248,;LINC01529,intron_variant,,ENST00000637365,;LINC01529,downstream_gene_variant,,ENST00000433059,;LINC01529,downstream_gene_variant,,ENST00000564335,;LINC01529,downstream_gene_variant,,ENST00000567313,;ARHGAP33,downstream_gene_variant,,ENST00000591438,;LINC01529,downstream_gene_variant,,ENST00000637421,;LINC01529,downstream_gene_variant,,ENST00000637448,;ARHGAP33,downstream_gene_variant,,ENST00000586918,;ARHGAP33,downstream_gene_variant,,ENST00000587984,;ARHGAP33,downstream_gene_variant,,ENST00000593034,;ARHGAP33,downstream_gene_variant,,ENST00000601474,;LINC01529,downstream_gene_variant,,ENST00000636474,; G ENSG00000004777 ENST00000314737 Transcript missense_variant 2731/3858 2647/3381 883/1126 F/V Ttc/Gtc 1 1 ARHGAP33 HGNC HGNC:23085 protein_coding YES CCDS12477.1 ENSP00000320038 O14559 UPI000013F8F9 NM_052948.3 deleterious_low_confidence(0) benign(0.015) 21/21 hmmpanther:PTHR15729:SF11,hmmpanther:PTHR15729 MODERATE 1 SNV 2 PASS CTT . . 35787695 ZNF546 . GRCh38 chr19 40014686 40014686 + Missense_Mutation SNP G G T rs1316119553 7316-156 BS_S0WS43HJ G G c.1416G>T p.Lys472Asn p.K472N ENST00000347077 7/7 98 81 13 65 62 1 ZNF546,missense_variant,p.Lys472Asn,ENST00000347077,NM_178544.4;ZNF546,missense_variant,p.Lys446Asn,ENST00000600094,NM_001297763.1;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000599504,;ZNF546,downstream_gene_variant,,ENST00000601138,; T ENSG00000187187 ENST00000347077 Transcript missense_variant 1632/7987 1416/2511 472/836 K/N aaG/aaT rs1316119553 1 1 ZNF546 HGNC HGNC:28671 protein_coding YES CCDS12548.1 ENSP00000339823 Q86UE3 UPI00001984E3 NM_178544.4 tolerated(0.49) possibly_damaging(0.883) 7/7 Gene3D:2.30.30.380,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGG . . 40014686 MAP3K10 . GRCh38 chr19 40192033 40192033 + Translation_Start_Site SNP T T G novel 7316-156 BS_S0WS43HJ T T c.2T>G p.Met1? p.M1? ENST00000253055 1/10 78 52 19 39 35 1 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; G ENSG00000130758 ENST00000253055 Transcript start_lost 290/3436 2/2865 1/954 M/R aTg/aGg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS ATG . . 40192033 MEGF8 . GRCh38 chr19 42351256 42351256 + Missense_Mutation SNP G G A novel 7316-156 BS_S0WS43HJ G G c.2777G>A p.Gly926Glu p.G926E ENST00000251268 16/42 112 72 37 38 38 0 MEGF8,missense_variant,p.Gly859Glu,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Gly926Glu,ENST00000251268,NM_001271938.1;MEGF8,5_prime_UTR_variant,,ENST00000378073,;MIR8077,downstream_gene_variant,,ENST00000618566,;MEGF8,upstream_gene_variant,,ENST00000593840,; A ENSG00000105429 ENST00000251268 Transcript missense_variant 2777/9549 2777/8538 926/2845 G/E gGg/gAg 1 1 MEGF8 HGNC HGNC:3233 protein_coding YES CCDS62693.1 ENSP00000251268 Q7Z7M0 UPI00005788D1 NM_001271938.1 deleterious(0) probably_damaging(0.999) 16/42 hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287,SMART_domains:SM00423 MODERATE 1 SNV 5 1 PASS GGG . . 42351256 NPAS1 . GRCh38 chr19 47019999 47019999 + Splice_Site SNP T T G rs1476585172 7316-156 BS_S0WS43HJ T T c.-43+2T>G ENST00000602212 80 63 13 30 26 0 NPAS1,splice_donor_variant,,ENST00000602189,;NPAS1,splice_donor_variant,,ENST00000602212,NM_002517.3;NPAS1,upstream_gene_variant,,ENST00000449844,;,regulatory_region_variant,,ENSR00000110489,; G ENSG00000130751 ENST00000602212 Transcript splice_donor_variant rs1476585172 1 1 NPAS1 HGNC HGNC:7894 protein_coding YES CCDS12694.1 ENSP00000469142 Q99742 UPI0000073CD1 NM_002517.3 1/11 HIGH 1 SNV 1 PASS GTA . . 47019999 TPRX1 . GRCh38 chr19 47802463 47802463 + Missense_Mutation SNP T T A rs761558415 7316-156 BS_S0WS43HJ T T c.548A>T p.Asn183Ile p.N183I ENST00000322175 2/2 75 54 8 30 28 0 TPRX1,missense_variant,p.Asn280Ile,ENST00000535759,;TPRX1,missense_variant,p.Asn183Ile,ENST00000322175,NM_198479.2;TPRX1,missense_variant,p.Asn173Ile,ENST00000543508,; A ENSG00000178928 ENST00000322175 Transcript missense_variant 704/1924 548/1236 183/411 N/I aAc/aTc rs761558415,COSM998812,COSM6281637,COSM5037664 1 -1 TPRX1 HGNC HGNC:32174 protein_coding YES CCDS33066.1 ENSP00000323455 Q8N7U7 UPI0000198666 NM_198479.2 tolerated(0.27) benign(0) 2/2 hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF25,mobidb-lite,Low_complexity_(Seg):seg 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS GTT . . 0.0001861 0.0003404 0.0004432 0.0009994 0.0001075 0.0003367 47802463 ZNF544 . GRCh38 chr19 58261858 58261858 + Missense_Mutation SNP A A T rs1318311059 7316-156 BS_S0WS43HJ A A c.1252A>T p.Thr418Ser p.T418S ENST00000269829 4/4 90 79 9 41 40 0 ZNF544,missense_variant,p.Thr418Ser,ENST00000269829,;ZNF544,missense_variant,p.Thr390Ser,ENST00000600220,NM_001320773.1,NM_001320771.1;ZNF544,missense_variant,p.Thr418Ser,ENST00000596652,NM_001320769.1,NM_001320787.1,NM_001320774.1,NM_014480.3,NM_001320767.1,NM_001320777.1,NM_001320786.1,NM_001320785.1;ZNF544,missense_variant,p.Thr390Ser,ENST00000600044,NM_001320770.1;ZNF544,missense_variant,p.Thr276Ser,ENST00000599953,;ZNF544,3_prime_UTR_variant,,ENST00000599227,NM_001320791.1,NM_001320792.1,NM_001320788.1;ZNF544,3_prime_UTR_variant,,ENST00000596825,NM_001320789.1,NM_001320781.1;ZNF544,intron_variant,,ENST00000595981,;ZNF544,intron_variant,,ENST00000596929,NM_001320782.1;ZNF544,downstream_gene_variant,,ENST00000594384,;AC020915.3,intron_variant,,ENST00000597230,;AC020915.2,upstream_gene_variant,,ENST00000595301,;ZNF544,downstream_gene_variant,,ENST00000598880,;ZNF544,3_prime_UTR_variant,,ENST00000596677,;AC020915.5,intron_variant,,ENST00000637233,;AC020915.5,intron_variant,,ENST00000637310,; T ENSG00000198131 ENST00000269829 Transcript missense_variant 1313/3547 1252/2148 418/715 T/S Acc/Tcc rs1318311059 1 1 ZNF544 HGNC HGNC:16759 protein_coding YES CCDS12973.1 ENSP00000269829 Q6NX49 UPI000013D856 tolerated(1) benign(0.021) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CAC . . 58261858 SOX12 . GRCh38 chr20 325926 325926 + Translation_Start_Site SNP T T G novel 7316-156 BS_S0WS43HJ T T c.2T>G p.Met1? p.M1? ENST00000342665 1/1 67 52 12 33 33 0 SOX12,start_lost,p.Met1?,ENST00000342665,NM_006943.3;NRSN2-AS1,intron_variant,,ENST00000442637,;NRSN2-AS1,upstream_gene_variant,,ENST00000414676,;,regulatory_region_variant,,ENSR00000133399,; G ENSG00000177732 ENST00000342665 Transcript start_lost 332/4630 2/948 1/315 M/R aTg/aGg 1 1 SOX12 HGNC HGNC:11198 protein_coding YES CCDS12995.1 ENSP00000347646 O15370 UPI0000167B9D NM_006943.3 deleterious(0) benign(0.012) 1/1 mobidb-lite HIGH SNV PASS ATG . . 325926 ZNF337 . GRCh38 chr20 25676395 25676395 + Missense_Mutation SNP C C A novel 7316-156 BS_S0WS43HJ C C c.893G>T p.Gly298Val p.G298V ENST00000376436 4/4 98 80 18 43 43 0 ZNF337,missense_variant,p.Gly298Val,ENST00000376436,NM_001290261.1;ZNF337,missense_variant,p.Gly298Val,ENST00000252979,NM_015655.3;ZNF337-AS1,non_coding_transcript_exon_variant,,ENST00000414393,;ZNF337-AS1,intron_variant,,ENST00000439498,;ZNF337-AS1,intron_variant,,ENST00000455791,;ZNF337-AS1,downstream_gene_variant,,ENST00000421829,;ZNF337-AS1,downstream_gene_variant,,ENST00000428254,;AL031673.1,upstream_gene_variant,,ENST00000611460,;ZNF337,downstream_gene_variant,,ENST00000481610,; A ENSG00000130684 ENST00000376436 Transcript missense_variant 1433/3613 893/2256 298/751 G/V gGg/gTg 1 -1 ZNF337 HGNC HGNC:15809 protein_coding YES CCDS13174.1 ENSP00000365619 Q9Y3M9 UPI000013C35E NM_001290261.1 deleterious(0) probably_damaging(0.967) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF22,PROSITE_patterns:PS00028,Gene3D:2.30.30.380,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CCC . . 25676395 KIF3B . GRCh38 chr20 32309920 32309920 + Missense_Mutation SNP G G A 7316-156 BS_S0WS43HJ G G c.143G>A p.Gly48Glu p.G48E ENST00000375712 2/9 85 59 25 38 37 0 KIF3B,missense_variant,p.Gly48Glu,ENST00000375712,NM_004798.3; A ENSG00000101350 ENST00000375712 Transcript missense_variant 310/6103 143/2244 48/747 G/E gGg/gAg COSM5857632 1 1 KIF3B HGNC HGNC:6320 protein_coding YES CCDS13200.1 ENSP00000364864 O15066 UPI000012DDB1 NM_004798.3 tolerated(0.67) benign(0.012) 2/9 cd01371,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF744,hmmpanther:PTHR24115 1 MODERATE 1 SNV 1 1 PASS GGG . . 32309920 SEMG2 . GRCh38 chr20 45222990 45222990 + Missense_Mutation SNP C C A rs771458905 7316-156 BS_S0WS43HJ C C c.1358C>A p.Pro453His p.P453H ENST00000372769 2/3 87 77 10 46 45 0 SEMG2,missense_variant,p.Pro453His,ENST00000372769,NM_003008.2; A ENSG00000124157 ENST00000372769 Transcript missense_variant 1448/2051 1358/1749 453/582 P/H cCt/cAt rs771458905,COSM1130626 1 1 SEMG2 HGNC HGNC:10743 protein_coding YES CCDS13346.1 ENSP00000361855 Q02383 UPI0000135845 NM_003008.2 tolerated(0.19) probably_damaging(0.983) 2/3 Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CCT . . 1.22e-05 1.793e-05 0.0001825 45222990 ZNF74 . GRCh38 chr22 20395380 20395380 + Missense_Mutation SNP G G T novel 7316-156 BS_S0WS43HJ G G c.82G>T p.Asp28Tyr p.D28Y ENST00000611540 3/6 81 60 20 44 42 1 ZNF74,missense_variant,p.Asp28Tyr,ENST00000611540,NM_001256524.1;ZNF74,missense_variant,p.Asp28Tyr,ENST00000400451,NM_001256525.1,NM_003426.3;ZNF74,missense_variant,p.Gly33Val,ENST00000357502,;ZNF74,missense_variant,p.Asp28Tyr,ENST00000405993,;ZNF74,intron_variant,,ENST00000403682,NM_001256523.1;ZNF74,intron_variant,,ENST00000420626,;USP41,upstream_gene_variant,,ENST00000454608,;ZNF74,missense_variant,p.Asp28Tyr,ENST00000437275,;ZNF74,non_coding_transcript_exon_variant,,ENST00000493734,;ZNF74,upstream_gene_variant,,ENST00000476678,; T ENSG00000185252 ENST00000611540 Transcript missense_variant 368/3714 82/1935 28/644 D/Y Gat/Tat 1 1 ZNF74 HGNC HGNC:13144 protein_coding YES CCDS42982.1 ENSP00000483077 Q16587 UPI000020710C NM_001256524.1 deleterious(0) possibly_damaging(0.667) 3/6 hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF336 MODERATE 1 SNV 2 PASS GGA . . 20395380 BX890604.2 . GRCh38 chrX 3953460 3953460 + Splice_Region SNP G G T novel 7316-156 BS_S0WS43HJ G G n.400+5G>T ENST00000427883 80 56 23 46 46 0 BX890604.2,splice_region_variant,,ENST00000427883,; T ENSG00000225722 ENST00000427883 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 BX890604.2 Clone_based_ensembl_gene processed_pseudogene YES 1/1 LOW 1 SNV PASS GGT . . 3953460 DMD . GRCh38 chrX 32343163 32343164 + Frame_Shift_Ins INS - - T novel 7316-156 BS_S0WS43HJ - - c.5709dup p.Pro1904ThrfsTer2 p.P1904Tfs*2 ENST00000357033 40/79 70 48 17 46 45 0 DMD,frameshift_variant,p.Pro1904ThrfsTer2,ENST00000357033,NM_004012.3,NM_004006.2,NM_004011.3,NM_000109.3;DMD,frameshift_variant,p.Pro1900ThrfsTer2,ENST00000378677,NM_004009.3,NM_004010.3;DMD,frameshift_variant,p.Pro1904ThrfsTer2,ENST00000620040,;DMD,frameshift_variant,p.Pro1900ThrfsTer2,ENST00000619831,;DMD,frameshift_variant,p.Pro123ThrfsTer2,ENST00000493412,;DMD,intron_variant,,ENST00000488902,; T ENSG00000198947 ENST00000357033 Transcript frameshift_variant 5916-5917/13956 5709-5710/11058 1903-1904/3685 -/X -/A 1 -1 DMD HGNC HGNC:2928 protein_coding YES CCDS14233.1 ENSP00000354923 A0A075B6G3 UPI000049E111 NM_004012.3,NM_004006.2,NM_004011.3,NM_000109.3 40/79 Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002341,hmmpanther:PTHR44318,hmmpanther:PTHR44318:SF1,SMART_domains:SM00150,Superfamily_domains:SSF46966,cd00176 HIGH 1 insertion 1 1 PASS GGT . . 32343163 CFAP47 . GRCh38 chrX 35975319 35975319 + Nonsense_Mutation SNP T T A novel 7316-156 BS_S0WS43HJ T T c.2427T>A p.Tyr809Ter p.Y809* ENST00000378653 14/64 83 73 8 47 47 0 CFAP47,stop_gained,p.Tyr809Ter,ENST00000378653,NM_001304548.1;CFAP47,stop_gained,p.Tyr809Ter,ENST00000297866,NM_152632.3;CFAP47,3_prime_UTR_variant,,ENST00000493930,; A ENSG00000165164 ENST00000378653 Transcript stop_gained 2493/9943 2427/9564 809/3187 Y/* taT/taA 1 1 CFAP47 HGNC HGNC:26708 protein_coding YES CCDS83464.1 ENSP00000367922 Q6ZTR5 UPI000596DACD NM_001304548.1 14/64 hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF24,Gene3D:2.60.40.10 HIGH 1 SNV 5 PASS ATA . . 35975319 RPGR . GRCh38 chrX 38291459 38291459 + Missense_Mutation SNP T T G novel 7316-156 BS_S0WS43HJ T T c.1440A>C p.Lys480Asn p.K480N ENST00000378505 12/15 73 54 18 39 38 0 RPGR,missense_variant,p.Lys480Asn,ENST00000378505,NM_001034853.1;RPGR,missense_variant,p.Lys480Asn,ENST00000645032,;RPGR,missense_variant,p.Lys480Asn,ENST00000339363,;RPGR,missense_variant,p.Lys480Asn,ENST00000318842,;RPGR,missense_variant,p.Lys480Asn,ENST00000642395,NM_000328.2;RPGR,missense_variant,p.Lys418Asn,ENST00000644337,;RPGR,missense_variant,p.Lys418Asn,ENST00000644238,;RPGR,missense_variant,p.Lys215Asn,ENST00000494707,;AF241726.2,intron_variant,,ENST00000465127,;RPGR,non_coding_transcript_exon_variant,,ENST00000642170,;RPGR,missense_variant,p.Lys480Asn,ENST00000482855,;RPGR,missense_variant,p.Lys480Asn,ENST00000642739,;RPGR,missense_variant,p.Lys480Asn,ENST00000645124,;RPGR,3_prime_UTR_variant,,ENST00000646020,;RPGR,intron_variant,,ENST00000474584,; G ENSG00000156313 ENST00000378505 Transcript missense_variant 1617/4768 1440/3459 480/1152 K/N aaA/aaC 1 -1 RPGR HGNC HGNC:10295 protein_coding YES CCDS35229.1 ENSP00000367766 Q92834 UPI00005D3C95 NM_001034853.1 deleterious_low_confidence(0.01) possibly_damaging(0.632) 12/15 MODERATE 1 SNV 5 1 PASS CTT . . 38291459 ARMCX4 . GRCh38 chrX 101489929 101489929 + Missense_Mutation SNP A A G novel 7316-156 BS_S0WS43HJ A A c.1340A>G p.Asp447Gly p.D447G ENST00000423738 2/2 94 83 8 32 31 0 ARMCX4,missense_variant,p.Asp447Gly,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; G ENSG00000196440 ENST00000423738 Transcript missense_variant 1542/7424 1340/6873 447/2290 D/G gAt/gGt 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(1) benign(0.039) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS GAT . . 101489929 FRMPD3 . GRCh38 chrX 107597827 107597829 + In_Frame_Del DEL GAG GAG - rs765779456 7316-156 BS_S0WS43HJ GAG GAG c.2064_2066del p.Glu689del p.E689del ENST00000276185 15/16 83 69 8 22 21 0 FRMPD3,inframe_deletion,p.Glu689del,ENST00000276185,NM_032428.1;FRMPD3,inframe_deletion,p.Glu637del,ENST00000439554,; - ENSG00000147234 ENST00000276185 Transcript inframe_deletion 2047-2049/7304 2047-2049/5433 683/1810 E/- GAG/- rs765779456,COSM6036706,COSM6036705 1 1 FRMPD3 HGNC HGNC:29382 protein_coding YES CCDS76006.1 ENSP00000276185 Q5JV73 UPI00006C1C33 NM_032428.1 15/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45533 0.1426 0.1394 0,1,1 MODERATE 1 deletion 5 17 0,1,1 PASS GTGAGG . . 0.01845 0.004991 0.01487 0.03392 0.02506 0.008502 0.0259 0.01596 0.0125 107597826 Z82195.2 . GRCh38 chrX 130447505 130447507 + Splice_Region DEL TTA TTA - rs769207202 7316-156 BS_S0WS43HJ TTA TTA n.16628-5_16628-3del ENST00000612348 82 64 6 42 38 0 Z82195.2,splice_region_variant,,ENST00000612348,; - ENSG00000274775 ENST00000612348 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs769207202 1 -1 Z82195.2 Clone_based_ensembl_gene transcribed_unprocessed_pseudogene YES 17/19 LOW 1 deletion PASS TTTTAT . . 130447504 CCNQ . GRCh38 chrX 153588365 153588365 + Nonstop_Mutation SNP T T A novel 7316-156 BS_S0WS43HJ T T c.687A>T p.Ter229TyrextTer102 p.*229Yext*102 ENST00000440428 5/5 88 62 23 34 34 0 CCNQ,stop_lost,p.Ter249TyrextTer102,ENST00000576892,NM_152274.4;CCNQ,stop_lost,p.Ter229TyrextTer102,ENST00000440428,NM_001130997.2;CCNQ,stop_lost,p.Ter95TyrextTer102,ENST00000429336,;CCNQ,missense_variant,p.Lys103Met,ENST00000614850,;CCNQ,downstream_gene_variant,,ENST00000482182,;CCNQ,3_prime_UTR_variant,,ENST00000621629,;CCNQ,3_prime_UTR_variant,,ENST00000620088,;CCNQ,3_prime_UTR_variant,,ENST00000614851,;CCNQ,downstream_gene_variant,,ENST00000621817,; A ENSG00000262919 ENST00000440428 Transcript stop_lost 731/1164 687/687 229/228 */Y taA/taT 1 -1 CCNQ HGNC HGNC:28434 protein_coding YES CCDS76054.1 ENSP00000402949 Q8N1B3 UPI0001761632 NM_001130997.2 5/5 HIGH 1 SNV 2 1 PASS CTT . . 153588365 IVL . GRCh38 chr1 152911145 152911145 + Missense_Mutation SNP T T G novel 7316-3572 BS_K756ZQDR T T c.1348T>G p.Leu450Val p.L450V ENST00000368764 2/2 63 50 5 31 29 0 IVL,missense_variant,p.Leu450Val,ENST00000368764,NM_005547.2; G ENSG00000163207 ENST00000368764 Transcript missense_variant 1412/2153 1348/1758 450/585 L/V Ttg/Gtg 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated(0.11) probably_damaging(0.973) 2/2 Pfam_domain:PF00904,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GTT . . 152911145 ALMS1 . GRCh38 chr2 73450837 73450837 + Missense_Mutation SNP G G T rs752146875 7316-3572 BS_K756ZQDR G G c.4310G>T p.Ser1437Ile p.S1437I ENST00000613296 8/23 63 51 8 31 30 0 ALMS1,missense_variant,p.Ser1437Ile,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Ser1395Ile,ENST00000484298,;ALMS1,missense_variant,p.Ser1437Ile,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; T ENSG00000116127 ENST00000613296 Transcript missense_variant 4421/12925 4310/12507 1437/4168 S/I aGt/aTt rs752146875 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 tolerated(1) benign(0) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS AGT . . 8.14e-06 0.000116 73450837 SLC35F5 . GRCh38 chr2 113742700 113742700 + Frame_Shift_Del DEL A A - rs768065327 7316-3572 BS_K756ZQDR A A c.742del p.Cys248AlafsTer22 p.C248Afs*22 ENST00000245680 7/16 54 44 5 26 26 0 SLC35F5,frameshift_variant,p.Cys248AlafsTer22,ENST00000245680,NM_025181.3;SLC35F5,frameshift_variant,p.Cys242AlafsTer4,ENST00000409342,NM_001330317.1;SLC35F5,frameshift_variant,p.Cys242AlafsTer22,ENST00000638402,;SLC35F5,frameshift_variant,p.Cys242AlafsTer22,ENST00000409106,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000498768,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000460863,; - ENSG00000115084 ENST00000245680 Transcript frameshift_variant 1156/4412 742/1572 248/523 C/X Tgc/gc rs768065327,COSM111375 1 -1 SLC35F5 HGNC HGNC:23617 protein_coding YES CCDS2119.1 ENSP00000245680 Q8WV83 A0A024RAD4 UPI000004C648 NM_025181.3 7/16 Pfam_domain:PF00892,hmmpanther:PTHR23051,hmmpanther:PTHR23051:SF0,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 HIGH 1 deletion 1 0,1 PASS GCAA . . 0.01027 0.002214 0.01268 0.009037 0.007653 0.006615 0.00771 0.009885 0.02765 113742699 TTC21A . GRCh38 chr3 39137063 39137063 + Splice_Region SNP A A G rs1194216726 7316-3572 BS_K756ZQDR A A c.3278+3A>G ENST00000431162 65 56 7 32 31 0 TTC21A,splice_region_variant,,ENST00000431162,NM_145755.2;TTC21A,splice_region_variant,,ENST00000440121,NM_001105513.2;CSRNP1,downstream_gene_variant,,ENST00000273153,NM_033027.3,NM_001320559.1;MIR6822,upstream_gene_variant,,ENST00000621888,;TTC21A,splice_region_variant,,ENST00000472866,;TTC21A,splice_region_variant,,ENST00000490245,;TTC21A,splice_region_variant,,ENST00000493856,;TTC21A,downstream_gene_variant,,ENST00000465962,;TTC21A,downstream_gene_variant,,ENST00000481734,;TTC21A,splice_region_variant,,ENST00000430597,;TTC21A,upstream_gene_variant,,ENST00000460460,;TTC21A,downstream_gene_variant,,ENST00000473587,;,regulatory_region_variant,,ENSR00000151058,; G ENSG00000168026 ENST00000431162 Transcript splice_region_variant,intron_variant rs1194216726 1 1 TTC21A HGNC HGNC:30761 protein_coding YES CCDS46800.1 ENSP00000398211 Q8NDW8 UPI00015D46B9 NM_145755.2 24/28 LOW 1 SNV 1 PASS TAA . . 39137063 LPAL2 . GRCh38 chr6 160467023 160467024 + Splice_Region INS - - A rs1193900964 7316-3572 BS_K756ZQDR - - n.1752-7dup ENST00000454031 42 34 5 29 25 0 LPAL2,splice_region_variant,,ENST00000435757,;LPAL2,splice_region_variant,,ENST00000606083,;LPAL2,downstream_gene_variant,,ENST00000335388,;LPAL2,splice_region_variant,,ENST00000454031,; A ENSG00000213071 ENST00000454031 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1193900964 1 -1 LPAL2 HGNC HGNC:21210 transcribed_unprocessed_pseudogene YES 11/16 LOW 1 insertion PASS AGA . . 160467023 ZNF716 . GRCh38 chr7 57469776 57469776 + Nonsense_Mutation SNP A A T 7316-3572 BS_K756ZQDR A A c.1315A>T p.Lys439Ter p.K439* ENST00000420713 4/4 56 43 9 26 25 0 ZNF716,stop_gained,p.Lys439Ter,ENST00000420713,NM_001159279.1; T ENSG00000182111 ENST00000420713 Transcript stop_gained 1427/5197 1315/1488 439/495 K/* Aaa/Taa COSM5956808,COSM5956807 1 1 ZNF716 HGNC HGNC:32458 protein_coding YES CCDS55112.1 ENSP00000394248 A6NP11 UPI00004192FD NM_001159279.1 4/4 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 HIGH 1 SNV 4 1,1 PASS TAA . . 57469776 PRSS2 . GRCh38 chr7 142774349 142774349 + Splice_Region SNP C C T rs748042803 7316-3572 BS_K756ZQDR C C c.634-7C>T ENST00000633969 85 64 16 39 36 1 PRSS2,splice_region_variant,,ENST00000539842,NM_002770.3;PRSS2,splice_region_variant,,ENST00000632805,;PRSS2,splice_region_variant,,ENST00000632998,;PRSS2,splice_region_variant,,ENST00000633969,NM_001303414.1;PRSS2,splice_region_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;WBP1LP1,downstream_gene_variant,,ENST00000460451,; T ENSG00000275896 ENST00000633969 Transcript splice_region_variant,intron_variant rs748042803 1 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9 UPI0001578AE2 NM_001303414.1 5/5 LOW 1 SNV 1 1 PASS CCC . . 142774349 ZNF696 . GRCh38 chr8 143296256 143296256 + Missense_Mutation SNP T T C rs1335143530 7316-3572 BS_K756ZQDR T T c.581T>C p.Phe194Ser p.F194S ENST00000330143 3/3 92 75 8 30 28 0 ZNF696,missense_variant,p.Phe194Ser,ENST00000330143,NM_030895.2;ZNF696,missense_variant,p.Phe194Ser,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; C ENSG00000185730 ENST00000330143 Transcript missense_variant 990/2795 581/1125 194/374 F/S tTc/tCc rs1335143530 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 tolerated(0.85) benign(0) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTC . . 4.446e-06 9.69e-06 143296256 SLC1A1 . GRCh38 chr9 4564454 4564454 + Missense_Mutation SNP A A C novel 7316-3572 BS_K756ZQDR A A c.436A>C p.Ile146Leu p.I146L ENST00000262352 4/12 74 67 6 37 37 0 SLC1A1,missense_variant,p.Ile146Leu,ENST00000262352,NM_004170.5;SLC1A1,non_coding_transcript_exon_variant,,ENST00000490167,;SPATA6L,intron_variant,,ENST00000485616,; C ENSG00000106688 ENST00000262352 Transcript missense_variant 672/3722 436/1575 146/524 I/L Atc/Ctc 1 1 SLC1A1 HGNC HGNC:10939 protein_coding YES CCDS6452.1 ENSP00000262352 P43005 UPI0000129B16 NM_004170.5 tolerated(0.13) benign(0.208) 4/12 Gene3D:1.10.3860.10,Pfam_domain:PF00375,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF69,Superfamily_domains:SSF118215 MODERATE 1 SNV 1 1 PASS CAT . . 4564454 CNTNAP3B . GRCh38 chr9 41991703 41991703 + Missense_Mutation SNP G G T rs62555055 7316-3572 BS_K756ZQDR G G c.1240C>A p.Arg414Ser p.R414S ENST00000377561 8/24 56 34 21 24 23 1 CNTNAP3B,missense_variant,p.Arg414Ser,ENST00000612828,;CNTNAP3B,missense_variant,p.Arg414Ser,ENST00000377561,NM_001201380.2;CNTNAP3B,missense_variant,p.Arg414Ser,ENST00000341990,;CNTNAP3B,missense_variant,p.Arg414Ser,ENST00000617422,;CNTNAP3B,downstream_gene_variant,,ENST00000276974,;CNTNAP3B,missense_variant,p.Arg414Ser,ENST00000619138,;CNTNAP3B,missense_variant,p.Arg414Ser,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,; T ENSG00000154529 ENST00000377561 Transcript missense_variant 1633/5379 1240/3867 414/1288 R/S Cgt/Agt rs62555055,COSM3848596 1 -1 CNTNAP3B HGNC HGNC:32035 protein_coding YES CCDS75836.1 ENSP00000478671 Q96NU0 UPI00043788D3 NM_001201380.2 tolerated(0.42) benign(0.148) 8/24 PROSITE_profiles:PS50025,cd00110,hmmpanther:PTHR43925:SF6,hmmpanther:PTHR43925,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 41991703 SPATA31E1 . GRCh38 chr9 87882938 87882938 + Missense_Mutation SNP T T G rs577577000 7316-3572 BS_K756ZQDR T T c.47T>G p.Val16Gly p.V16G ENST00000325643 1/4 80 71 7 27 27 0 SPATA31E1,missense_variant,p.Val16Gly,ENST00000325643,NM_178828.4; G ENSG00000177992 ENST00000325643 Transcript missense_variant 113/4478 47/4338 16/1445 V/G gTt/gGt rs577577000,COSM5956726 1 1 SPATA31E1 HGNC HGNC:26672 protein_coding YES CCDS6676.1 ENSP00000322640 Q6ZUB1 UPI000036764A NM_178828.4 benign(0) 1/4 0,1 MODERATE 1 SNV 1 0,1 PASS GTT . . 0.00013 6.851e-05 0.0004359 0.0001224 4.507e-05 4.595e-05 0.0001916 0.0002364 87882938 MUC5AC . GRCh38 chr11 1186910 1186910 + Missense_Mutation SNP G G C rs1399458333 7316-3572 BS_K756ZQDR G G c.8765G>C p.Ser2922Thr p.S2922T ENST00000621226 31/49 65 49 14 30 27 0 MUC5AC,missense_variant,p.Ser2922Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 8812/17448 8765/16965 2922/5654 S/T aGc/aCc rs1399458333 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(1) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AGC . . 1186910 OR52N5 . GRCh38 chr11 5778421 5778422 + Frame_Shift_Ins INS - - A rs775728910 7316-3572 BS_K756ZQDR - - c.213dup p.Gly72TrpfsTer8 p.G72Wfs*8 ENST00000641181 3/3 52 40 6 21 20 0 OR52N5,frameshift_variant,p.Gly72TrpfsTer8,ENST00000641181,;OR52N5,frameshift_variant,p.Gly72TrpfsTer8,ENST00000317093,NM_001001922.2;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,; A ENSG00000181009 ENST00000641181 Transcript frameshift_variant 521-522/2778 213-214/975 71-72/324 -/X -/T rs775728910,TMP_ESP_11_5799652_5799652 1 -1 OR52N5 HGNC HGNC:15231 protein_coding YES CCDS31397.1 ENSP00000493190 Q8NH56 A0A126GVK9 UPI0000041BF9 3/3 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF18,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix 0.005114 0.004717 HIGH 1 insertion PASS CCA . . 0.0006943 0.0003204 0.0008878 0.0002028 0.000964 0.001427 0.0005366 0.0003472 0.0007843 5778421 FAM186A . GRCh38 chr12 50353548 50353548 + Missense_Mutation SNP T T A rs1300942577 7316-3572 BS_K756ZQDR T T c.3284A>T p.Gln1095Leu p.Q1095L ENST00000327337 4/8 61 44 7 38 36 0 FAM186A,missense_variant,p.Gln1095Leu,ENST00000543111,;FAM186A,missense_variant,p.Gln1095Leu,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; A ENSG00000185958 ENST00000327337 Transcript missense_variant 3284/7127 3284/7056 1095/2351 Q/L cAg/cTg rs1300942577 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.38) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 MODERATE 1 SNV 5 PASS CTG . . 50353548 RCBTB2 . GRCh38 chr13 48522407 48522408 + Splice_Region INS - - A rs750667269 7316-3572 BS_K756ZQDR - - c.-39-5dup ENST00000430805 54 43 7 41 38 0 RCBTB2,splice_region_variant,,ENST00000344532,NM_001268.3,NM_001352424.1;RCBTB2,splice_region_variant,,ENST00000430805,NM_001286830.1;RCBTB2,intron_variant,,ENST00000544492,NM_001286832.1;RCBTB2,intron_variant,,ENST00000544904,NM_001286831.1;RB1,intron_variant,,ENST00000643064,;RCBTB2,splice_region_variant,,ENST00000611827,;RCBTB2,intron_variant,,ENST00000481144,; A ENSG00000136161 ENST00000430805 Transcript splice_region_variant,intron_variant rs750667269 1 -1 RCBTB2 HGNC HGNC:1914 protein_coding YES CCDS73572.1 ENSP00000389910 B4DWG0 UPI00004DCFEF NM_001286830.1 2/13 LOW 1 insertion 2 PASS GGA . . 0.0334 0.141 0.04917 0.02402 0.04206 0.02576 0.02501 0.04113 0.01489 48522407 ZNF586 . GRCh38 chr19 57779405 57779405 + Missense_Mutation SNP G G T 7316-3572 BS_K756ZQDR G G c.818G>T p.Arg273Leu p.R273L ENST00000396154 3/3 71 56 7 32 28 2 ZNF586,missense_variant,p.Arg230Leu,ENST00000391702,NM_001204814.1;ZNF586,missense_variant,p.Arg273Leu,ENST00000396154,NM_017652.3;ZNF586,3_prime_UTR_variant,,ENST00000396150,NM_001077426.2;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000598885,;ZNF586,intron_variant,,ENST00000599802,; T ENSG00000083828 ENST00000396154 Transcript missense_variant 991/2163 818/1209 273/402 R/L cGa/cTa COSM4976263 1 1 ZNF586 HGNC HGNC:25949 protein_coding YES CCDS42640.1 ENSP00000379458 Q9NXT0 UPI0000202D48 NM_017652.3 tolerated(0.17) possibly_damaging(0.716) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF708,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS CGA . . 57779405 CD93 . GRCh38 chr20 23086152 23086154 + In_Frame_Del DEL AGC AGC - rs761775458 7316-3572 BS_K756ZQDR AGC AGC c.39_41del p.Leu15del p.L15del ENST00000246006 1/2 72 60 5 45 39 0 CD93,inframe_deletion,p.Leu15del,ENST00000246006,NM_012072.3; - ENSG00000125810 ENST00000246006 Transcript inframe_deletion 187-189/6708 39-41/1959 13-14/652 LL/L ctGCTc/ctc rs761775458,TMP_ESP_20_23066789_23066791,COSM1483495 1 -1 CD93 HGNC HGNC:15855 protein_coding YES CCDS13149.1 ENSP00000246006 Q9NPY3 UPI00001273BC NM_012072.3 1/2 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR44470:SF2,hmmpanther:PTHR44470 0.04601 0.04999 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS GGAGCA . . 0.005439 0.004344 0.004261 0.007821 0.002806 0.005443 0.006324 0.003568 0.005396 23086151 ZNF337 . GRCh38 chr20 25675513 25675513 + Missense_Mutation SNP T T C rs867149665 7316-3572 BS_K756ZQDR T T c.1775A>G p.Lys592Arg p.K592R ENST00000376436 4/4 72 61 5 26 25 0 ZNF337,missense_variant,p.Lys592Arg,ENST00000376436,NM_001290261.1;ZNF337,missense_variant,p.Lys592Arg,ENST00000252979,NM_015655.3;ZNF337-AS1,non_coding_transcript_exon_variant,,ENST00000414393,;ZNF337-AS1,intron_variant,,ENST00000439498,;ZNF337-AS1,intron_variant,,ENST00000455791,;ZNF337-AS1,downstream_gene_variant,,ENST00000421829,;ZNF337-AS1,downstream_gene_variant,,ENST00000428254,;ZNF337,downstream_gene_variant,,ENST00000481610,;,regulatory_region_variant,,ENSR00000135880,; C ENSG00000130684 ENST00000376436 Transcript missense_variant 2315/3613 1775/2256 592/751 K/R aAg/aGg rs867149665 1 -1 ZNF337 HGNC HGNC:15809 protein_coding YES CCDS13174.1 ENSP00000365619 Q9Y3M9 UPI000013C35E NM_001290261.1 tolerated(1) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF22,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CTT . . 25675513 ZFP64 . GRCh38 chr20 52097114 52097114 + Splice_Region DEL A A - rs10715971 7316-3572 BS_K756ZQDR A A c.386-8del ENST00000395979 72 63 6 32 31 0 ZFP64,splice_region_variant,,ENST00000395979,;ZFP64,intron_variant,,ENST00000361387,NM_199427.2;ZFP64,intron_variant,,ENST00000371518,;ZFP64,intron_variant,,ENST00000371523,NM_001319146.1;ZFP64,intron_variant,,ENST00000395989,;ZFP64,intron_variant,,ENST00000456175,;ZFP64,intron_variant,,ENST00000467811,;ZFP64,intron_variant,,ENST00000477786,; - ENSG00000020256 ENST00000395979 Transcript splice_region_variant,intron_variant rs10715971 1 -1 ZFP64 HGNC HGNC:15940 protein_coding ENSP00000379303 A2A2N6 UPI0000E5A346 3/3 0.6776 0.8873 0.6859 0.5536 0.5149 0.6779 LOW deletion 3 PASS CTAA . . 0.6469 0.8574 0.7135 0.5421 0.6273 0.6308 0.5929 0.6168 0.7079 52097113 KRTAP10-8 . GRCh38 chr21 44612431 44612431 + Missense_Mutation SNP T T A novel 7316-3572 BS_K756ZQDR T T c.331T>A p.Ser111Thr p.S111T ENST00000334662 1/1 75 67 7 33 33 0 KRTAP10-8,missense_variant,p.Ser111Thr,ENST00000334662,NM_198695.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000622352,;TSPEAR,intron_variant,,ENST00000642437,;,regulatory_region_variant,,ENSR00000300631,; A ENSG00000187766 ENST00000334662 Transcript missense_variant 353/876 331/780 111/259 S/T Tcc/Acc 1 1 KRTAP10-8 HGNC HGNC:20525 protein_coding YES CCDS13713.1 ENSP00000335565 P60410 UPI000036709C NM_198695.2 deleterious(0.05) benign(0.003) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF142 MODERATE SNV PASS CTC . . 44612431 RBMXL3 . GRCh38 chrX 115190967 115190967 + Missense_Mutation SNP A A G rs1227847349 7316-3572 BS_K756ZQDR A A c.1526A>G p.His509Arg p.H509R ENST00000424776 1/1 44 35 5 13 12 0 RBMXL3,missense_variant,p.His509Arg,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343012,; G ENSG00000175718 ENST00000424776 Transcript missense_variant 1541/3442 1526/3204 509/1067 H/R cAc/cGc rs1227847349 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.27) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 MODERATE SNV PASS CAC . . 115190967 TCHH . GRCh38 chr1 152109781 152109781 + Missense_Mutation SNP C C G rs369695249 7316-2901 BS_S0WS43HJ C C c.3436G>C p.Val1146Leu p.V1146L ENST00000614923 3/3 49 37 11 35 32 1 TCHH,missense_variant,p.Val1146Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Val1146Leu,ENST00000368804,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 3531/6995 3436/5832 1146/1943 V/L Gtg/Ctg rs369695249,COSM3773430 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.66) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS ACC . . 0.001117 0.00133 0.002694 0.0007928 0.004157 0.0001843 0.0004488 0.0004658 0.001774 152109781 SLC4A3 . GRCh38 chr2 219628042 219628042 + Missense_Mutation SNP A A C novel 7316-2901 BS_S0WS43HJ A A c.50A>C p.Gln17Pro p.Q17P ENST00000273063 2/23 99 81 16 26 26 0 SLC4A3,missense_variant,p.Gln17Pro,ENST00000358055,NM_005070.3;SLC4A3,missense_variant,p.Gln17Pro,ENST00000273063,NM_201574.2,NM_001326559.1;SLC4A3,missense_variant,p.Gln17Pro,ENST00000373760,;SLC4A3,missense_variant,p.Gln17Pro,ENST00000317151,;SLC4A3,upstream_gene_variant,,ENST00000413743,;AC009955.1,upstream_gene_variant,,ENST00000455896,;SLC4A3,upstream_gene_variant,,ENST00000497589,;SLC4A3,missense_variant,p.Gln17Pro,ENST00000425141,;SLC4A3,upstream_gene_variant,,ENST00000416910,;,regulatory_region_variant,,ENSR00000130585,; C ENSG00000114923 ENST00000273063 Transcript missense_variant,splice_region_variant 264/4246 50/3780 17/1259 Q/P cAg/cCg 1 1 SLC4A3 HGNC HGNC:11029 protein_coding YES CCDS2446.1 ENSP00000273063 P48751 UPI000022BE50 NM_201574.2,NM_001326559.1 deleterious_low_confidence(0.01) possibly_damaging(0.702) 2/23 mobidb-lite MODERATE 1 SNV 1 PASS CAG . . 219628042 B3GNT7 . GRCh38 chr2 231395805 231395805 + Translation_Start_Site SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.2T>G p.Met1? p.M1? ENST00000287590 1/2 119 97 12 36 36 0 B3GNT7,start_lost,p.Met1?,ENST00000287590,NM_145236.2;AC017104.1,downstream_gene_variant,,ENST00000415129,;AC017104.1,downstream_gene_variant,,ENST00000454416,;B3GNT7,upstream_gene_variant,,ENST00000479618,;AC017104.1,downstream_gene_variant,,ENST00000418050,;,regulatory_region_variant,,ENSR00000131820,; G ENSG00000156966 ENST00000287590 Transcript start_lost 263/3706 2/1206 1/401 M/R aTg/aGg 1 1 B3GNT7 HGNC HGNC:18811 protein_coding YES CCDS46540.1 ENSP00000287590 Q8NFL0 UPI000006D18A NM_145236.2 deleterious_low_confidence(0) benign(0.059) 1/2 HIGH 1 SNV 1 PASS ATG . . 231395805 PBRM1 . GRCh38 chr3 52642050 52642050 + Splice_Region SNP A A T rs576272601 7316-2901 BS_S0WS43HJ A A c.996-5T>A ENST00000394830 72 64 6 41 40 1 PBRM1,splice_region_variant,,ENST00000296302,;PBRM1,splice_region_variant,,ENST00000337303,;PBRM1,splice_region_variant,,ENST00000356770,;PBRM1,splice_region_variant,,ENST00000394830,NM_018313.4;PBRM1,splice_region_variant,,ENST00000409057,;PBRM1,splice_region_variant,,ENST00000409114,;PBRM1,splice_region_variant,,ENST00000409767,;PBRM1,splice_region_variant,,ENST00000410007,;PBRM1,splice_region_variant,,ENST00000423351,;PBRM1,splice_region_variant,,ENST00000446103,;PBRM1,splice_region_variant,,ENST00000412587,; T ENSG00000163939 ENST00000394830 Transcript splice_region_variant,intron_variant rs576272601,COSM6303609,COSM6303608,COSM6303607,COSM5943952,COSM5943951,COSM5943950 1 -1 PBRM1 HGNC HGNC:30064 protein_coding YES CCDS43099.1 ENSP00000378307 Q86U86 UPI000013E31E NM_018313.4 10/29 0.0128 0.0023 0.0216 0.0218 0.0149 0.0092 0,1,1,1,1,1,1 LOW 1 SNV 1 0,1,1,1,1,1,1 1 PASS CAA . . 0.07756 0.01611 0.1658 0.1195 0.0949 0.07703 0.06883 0.08596 0.03531 52642050 MUC4 . GRCh38 chr3 195779602 195779602 + Missense_Mutation SNP A A G rs200706465 7316-2901 BS_S0WS43HJ A A c.11978T>C p.Val3993Ala p.V3993A ENST00000463781 2/25 62 41 8 41 36 2 MUC4,missense_variant,p.Val3993Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Val3993Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Val3993Ala,ENST00000478156,;MUC4,missense_variant,p.Val3993Ala,ENST00000466475,;MUC4,missense_variant,p.Val3993Ala,ENST00000477756,;MUC4,missense_variant,p.Val3993Ala,ENST00000477086,;MUC4,missense_variant,p.Val3993Ala,ENST00000480843,;MUC4,missense_variant,p.Val3993Ala,ENST00000462323,;MUC4,missense_variant,p.Val3993Ala,ENST00000470451,;MUC4,missense_variant,p.Val3993Ala,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 12438/17110 11978/16239 3993/5412 V/A gTa/gCa rs200706465,COSM4593974 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.69) benign(0.001) 2/25 mobidb-lite,hmmpanther:PTHR42668 0.3191 0.6029 0.2147 0.0952 0.3479 0.2106 0,1 MODERATE 1 SNV 5 0,1 1 PASS TAC . . 0.07415 0.5014 0.06034 0.08806 0.03077 0.02021 0.06283 0.08588 0.0471 195779602 FYTTD1 . GRCh38 chr3 197750065 197750065 + Missense_Mutation SNP A A C novel 7316-2901 BS_S0WS43HJ A A c.94A>C p.Met32Leu p.M32L ENST00000241502 1/9 114 99 10 48 46 0 FYTTD1,missense_variant,p.Met32Leu,ENST00000241502,NM_032288.6;FYTTD1,intron_variant,,ENST00000415708,NM_001011537.2;FYTTD1,intron_variant,,ENST00000428738,;RUBCN,upstream_gene_variant,,ENST00000273582,NM_001145642.3;FYTTD1,upstream_gene_variant,,ENST00000424384,;FYTTD1,upstream_gene_variant,,ENST00000426031,;RUBCN,upstream_gene_variant,,ENST00000467303,;RUBCN,upstream_gene_variant,,ENST00000472149,;FYTTD1,missense_variant,p.Met32Leu,ENST00000412924,;FYTTD1,missense_variant,p.Met32Leu,ENST00000418169,;FYTTD1,intron_variant,,ENST00000494309,;,regulatory_region_variant,,ENSR00000164605,; C ENSG00000122068 ENST00000241502 Transcript missense_variant 316/6866 94/957 32/318 M/L Atg/Ctg 1 1 FYTTD1 HGNC HGNC:25407 protein_coding YES CCDS3329.1 ENSP00000241502 Q96QD9 A0A024R9K4 UPI0000073CEC NM_032288.6 tolerated(0.06) benign(0.168) 1/9 hmmpanther:PTHR21038,Pfam_domain:PF07078 MODERATE 1 SNV 1 PASS TAT . . 197750065 MUC22 . GRCh38 chr6 31026249 31026249 + Missense_Mutation SNP C C A rs534992021 7316-2901 BS_S0WS43HJ C C c.818C>A p.Thr273Lys p.T273K ENST00000561890 2/4 47 36 10 31 28 1 MUC22,missense_variant,p.Thr273Lys,ENST00000561890,NM_001198815.1,NM_001318484.1; A ENSG00000261272 ENST00000561890 Transcript missense_variant 1051/6019 818/5322 273/1773 T/K aCa/aAa rs534992021,COSM4160619 1 1 MUC22 HGNC HGNC:39755 protein_coding YES CCDS59003.1 ENSP00000455906 E2RYF6 UPI0001E92A31 NM_001198815.1,NM_001318484.1 tolerated_low_confidence(0.79) unknown(0) 2/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR37000 0.0962 0.1074 0.147 0.0347 0.1223 0.0818 0,1 MODERATE 1 SNV 2 0,1 PASS ACA . . 0.04141 0.07665 0.09244 0.1008 0.00181 0.02867 0.02353 0.04316 0.01676 31026249 SAPCD1 . GRCh38 chr6 31763119 31763119 + Missense_Mutation SNP C C T rs750348315 7316-2901 BS_S0WS43HJ C C c.65C>T p.Pro22Leu p.P22L ENST00000415669 1/5 105 86 19 48 47 0 SAPCD1,missense_variant,p.Pro22Leu,ENST00000415669,NM_001039651.1;SAPCD1,missense_variant,p.Pro22Leu,ENST00000425424,;SAPCD1,missense_variant,p.Pro22Leu,ENST00000433778,;VWA7,downstream_gene_variant,,ENST00000375688,NM_025258.2;MSH5,downstream_gene_variant,,ENST00000375703,NM_172165.3;MSH5,downstream_gene_variant,,ENST00000375740,NM_025259.5;MSH5,downstream_gene_variant,,ENST00000375750,NM_172166.3;MSH5,downstream_gene_variant,,ENST00000375755,NM_002441.4;MSH5,downstream_gene_variant,,ENST00000395853,;MSH5,downstream_gene_variant,,ENST00000429846,;MSH5,downstream_gene_variant,,ENST00000450148,;SAPCD1-AS1,downstream_gene_variant,,ENST00000419679,;MSH5-SAPCD1,non_coding_transcript_exon_variant,,ENST00000491552,;VWA7,downstream_gene_variant,,ENST00000467576,;MSH5,downstream_gene_variant,,ENST00000468602,;MSH5-SAPCD1,3_prime_UTR_variant,,ENST00000493662,;MSH5-SAPCD1,3_prime_UTR_variant,,ENST00000498473,;MSH5-SAPCD1,intron_variant,,ENST00000476085,;MSH5,downstream_gene_variant,,ENST00000423982,;MSH5,downstream_gene_variant,,ENST00000463144,;MSH5,downstream_gene_variant,,ENST00000467319,;MSH5,downstream_gene_variant,,ENST00000468136,;MSH5,downstream_gene_variant,,ENST00000484309,;VWA7,downstream_gene_variant,,ENST00000486423,;SAPCD1,upstream_gene_variant,,ENST00000494299,;MSH5,downstream_gene_variant,,ENST00000494458,;MSH5,downstream_gene_variant,,ENST00000494646,; T ENSG00000228727 ENST00000415669 Transcript missense_variant 124/916 65/537 22/178 P/L cCg/cTg rs750348315,COSM3394095 1 1 SAPCD1 HGNC HGNC:13938 protein_coding YES CCDS34411.1 ENSP00000411948 Q5SSQ6 A0A1U9X8I8 UPI000020D95B NM_001039651.1 deleterious(0.05) benign(0.372) 1/5 hmmpanther:PTHR14907,hmmpanther:PTHR14907:SF4 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 1.583e-05 0.0001672 6.788e-05 1.122e-05 31763119 SMOC2 . GRCh38 chr6 168608154 168608154 + Splice_Region SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.858-3T>G ENST00000354536 91 81 9 35 34 0 SMOC2,splice_region_variant,,ENST00000354536,NM_022138.2;SMOC2,splice_region_variant,,ENST00000356284,NM_001166412.1; G ENSG00000112562 ENST00000354536 Transcript splice_region_variant,intron_variant 1 1 SMOC2 HGNC HGNC:20323 protein_coding YES CCDS5307.1 ENSP00000346537 Q9H3U7 UPI0000072A56 NM_022138.2 8/12 LOW 1 SNV 1 1 PASS ATA . . 168608154 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 126 108 14 39 38 0 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 CEL . GRCh38 chr9 133071240 133071240 + Missense_Mutation SNP G G C rs34800980 7316-2901 BS_S0WS43HJ G G c.1747G>C p.Ala583Pro p.A583P ENST00000372080 11/11 87 70 10 43 40 0 CEL,missense_variant,p.Ala583Pro,ENST00000372080,NM_001807.4;,TF_binding_site_variant,,PB0010.1,; C ENSG00000170835 ENST00000372080 Transcript missense_variant 1763/2384 1747/2271 583/756 A/P Gcc/Ccc rs34800980,COSM3395640 1 1 CEL HGNC HGNC:1848 protein_coding YES CCDS43896.1 ENSP00000361151 X6R868 UPI000013E8C6 NM_001807.4 tolerated(0.3) benign(0.015) 11/11 Pfam_domain:PF16058,hmmpanther:PTHR43903,hmmpanther:PTHR43903:SF1,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGC . . 0.0002924 0.0001789 5.424e-05 0.0006372 0.001822 133071240 BUB3 . GRCh38 chr10 123162652 123162652 + Missense_Mutation SNP C C A novel 7316-2901 BS_S0WS43HJ C C c.795C>A p.Asn265Lys p.N265K ENST00000368865 7/8 78 69 9 42 41 0 BUB3,missense_variant,p.Asn265Lys,ENST00000368865,NM_004725.3;BUB3,missense_variant,p.Asn265Lys,ENST00000368858,NM_001007793.2;BUB3,missense_variant,p.Asn265Lys,ENST00000407911,;BUB3,intron_variant,,ENST00000368859,;BUB3,non_coding_transcript_exon_variant,,ENST00000481952,; A ENSG00000154473 ENST00000368865 Transcript missense_variant 1004/7828 795/987 265/328 N/K aaC/aaA 1 1 BUB3 HGNC HGNC:1151 protein_coding YES CCDS7635.1 ENSP00000357858 O43684 UPI0000126B30 NM_004725.3 deleterious(0.05) possibly_damaging(0.907) 7/8 PROSITE_profiles:PS50294,hmmpanther:PTHR10971,hmmpanther:PTHR10971:SF5,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978 MODERATE 1 SNV 1 1 PASS ACA . . 123162652 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-2901 BS_S0WS43HJ A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 84 56 17 22 21 0 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 CHD4 . GRCh38 chr12 6601979 6601981 + In_Frame_Del DEL TCC TCC - rs768750510 7316-2901 BS_S0WS43HJ TCC TCC c.417_419del p.Glu139del p.E139del ENST00000544040 4/40 90 74 6 32 29 0 CHD4,inframe_deletion,p.Glu132del,ENST00000645022,NM_001297553.1;CHD4,inframe_deletion,p.Glu139del,ENST00000544040,NM_001273.3;CHD4,inframe_deletion,p.Glu136del,ENST00000544484,;CHD4,inframe_deletion,p.Glu139del,ENST00000357008,;CHD4,inframe_deletion,p.Glu132del,ENST00000643335,;CHD4,inframe_deletion,p.Glu132del,ENST00000646806,;CHD4,inframe_deletion,p.Glu132del,ENST00000642879,;CHD4,inframe_deletion,p.Glu139del,ENST00000645645,;CHD4,inframe_deletion,p.Glu139del,ENST00000645095,;CHD4,inframe_deletion,p.Glu139del,ENST00000645005,;CHD4,inframe_deletion,p.Glu115del,ENST00000642594,;CHD4,inframe_deletion,p.Glu128del,ENST00000644289,;CHD4,inframe_deletion,p.Glu139del,ENST00000545942,;CHD4,downstream_gene_variant,,ENST00000545584,;CHD4,upstream_gene_variant,,ENST00000643815,;CHD4,downstream_gene_variant,,ENST00000644132,;CHD4,upstream_gene_variant,,ENST00000646608,;CHD4,non_coding_transcript_exon_variant,,ENST00000430771,;CHD4,upstream_gene_variant,,ENST00000646366,;CHD4,inframe_deletion,p.Glu132del,ENST00000642810,;CHD4,inframe_deletion,p.Glu132del,ENST00000644137,;CHD4,inframe_deletion,p.Glu132del,ENST00000646268,;CHD4,inframe_deletion,p.Glu132del,ENST00000644801,; - ENSG00000111642 ENST00000544040 Transcript inframe_deletion 672-674/6582 417-419/5739 139-140/1912 ED/D gaGGAt/gat rs768750510,COSM5019003,COSM5019002,COSM5019001 1 -1 CHD4 HGNC HGNC:1919 protein_coding YES CCDS8552.1 ENSP00000440542 F5GWX5 UPI000013C8EF NM_001273.3 4/40 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554 0,1,1,1 MODERATE 1 deletion 5 0,1,1,1 1 PASS CATCCT . . 0.0007816 0.0005089 0.0002821 0.0004164 0.004473 0.0006571 0.0002225 0.0004387 6601978 FAM186A . GRCh38 chr12 50352405 50352405 + Missense_Mutation SNP G G A rs559744570 7316-2901 BS_S0WS43HJ G G c.4427C>T p.Ala1476Val p.A1476V ENST00000327337 4/8 65 47 6 35 32 0 FAM186A,missense_variant,p.Ala1476Val,ENST00000543111,;FAM186A,missense_variant,p.Ala1476Val,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; A ENSG00000185958 ENST00000327337 Transcript missense_variant 4427/7127 4427/7056 1476/2351 A/V gCc/gTc rs559744570 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.18) probably_damaging(0.943) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0.0002 0.0014 MODERATE 1 SNV 5 PASS GGC . . 50352405 HRK . GRCh38 chr12 116881042 116881042 + Missense_Mutation SNP C C T novel 7316-2901 BS_S0WS43HJ C C c.266G>A p.Arg89Gln p.R89Q ENST00000257572 1/2 77 68 7 33 32 0 HRK,missense_variant,p.Arg89Gln,ENST00000257572,NM_003806.2;HRK,missense_variant,p.Arg16Gln,ENST00000550505,;HRK,upstream_gene_variant,,ENST00000552092,;HRK,upstream_gene_variant,,ENST00000586941,;,regulatory_region_variant,,ENSR00000058055,; T ENSG00000135116 ENST00000257572 Transcript missense_variant 400/5789 266/276 89/91 R/Q cGg/cAg 1 -1 HRK HGNC HGNC:5185 protein_coding YES CCDS9181.1 ENSP00000257572 O00198 UPI000012CBC6 NM_003806.2 tolerated_low_confidence(0.19) possibly_damaging(0.901) 1/2 PDB-ENSP_mappings:2l5b.A,hmmpanther:PTHR15056,Pfam_domain:PF15196,PIRSF_domain:PIRSF037635 MODERATE 1 SNV 1 PASS CCG . . 116881042 PHGR1 . GRCh38 chr15 40356131 40356131 + Missense_Mutation SNP G G A rs748182454 7316-2901 BS_S0WS43HJ G G c.77G>A p.Gly26Asp p.G26D ENST00000448599 4/4 90 76 10 24 24 0 PHGR1,missense_variant,p.Gly26Asp,ENST00000448599,NM_001145643.1;DISP2,upstream_gene_variant,,ENST00000267889,NM_033510.2;PHGR1,downstream_gene_variant,,ENST00000560745,; A ENSG00000233041 ENST00000448599 Transcript missense_variant 133/436 77/249 26/82 G/D gGc/gAc rs748182454 1 1 PHGR1 HGNC HGNC:37226 protein_coding YES CCDS45225.1 ENSP00000410024 C9JFL3 A0A1L2EC20 UPI00015D3965 NM_001145643.1 possibly_damaging(0.541) 4/4 Low_complexity_(Seg):seg,mobidb-lite MODERATE SNV 5 PASS GGC . . 40356131 RBPMS2 . GRCh38 chr15 64775319 64775319 + Translation_Start_Site SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.1A>C p.Met1? p.M1? ENST00000300069 1/8 106 85 13 34 33 0 RBPMS2,start_lost,p.Met1?,ENST00000300069,NM_194272.1;,regulatory_region_variant,,ENSR00000077989,; G ENSG00000166831 ENST00000300069 Transcript start_lost 269/2008 1/630 1/209 M/L Atg/Ctg 1 -1 RBPMS2 HGNC HGNC:19098 protein_coding YES CCDS32271.1 ENSP00000300069 Q6ZRY4 UPI00001AECD1 NM_194272.1 deleterious_low_confidence(0) benign(0.067) 1/8 hmmpanther:PTHR45539,hmmpanther:PTHR45539:SF2,mobidb-lite HIGH 1 SNV 1 PASS ATG . . 64775319 ACAN . GRCh38 chr15 88855538 88855538 + Missense_Mutation SNP A A T rs200194458 7316-2901 BS_S0WS43HJ A A c.2953A>T p.Thr985Ser p.T985S ENST00000439576 12/18 71 55 8 49 48 0 ACAN,missense_variant,p.Thr985Ser,ENST00000560601,;ACAN,missense_variant,p.Thr985Ser,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Thr985Ser,ENST00000559004,;ACAN,missense_variant,p.Thr985Ser,ENST00000561243,;ACAN,missense_variant,p.Thr985Ser,ENST00000352105,NM_001135.3;ACAN,intron_variant,,ENST00000617301,;ACAN,downstream_gene_variant,,ENST00000558207,;,regulatory_region_variant,,ENSR00000278890,; T ENSG00000157766 ENST00000439576 Transcript missense_variant 3327/8840 2953/7593 985/2530 T/S Act/Tct rs200194458,COSM3678472,COSM3678471,COSM2014837,COSM2014836 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 tolerated(1) benign(0.026) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42 uncertain_significance 0,1,1,1,1 25356970 MODERATE 1 SNV 5 1,1,1,1,1 1 PASS CAC . . 88855538 RHBDF1 . GRCh38 chr16 61449 61449 + Missense_Mutation SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.1331A>C p.Asn444Thr p.N444T ENST00000262316 10/18 90 73 15 30 28 0 RHBDF1,missense_variant,p.Asn444Thr,ENST00000262316,NM_022450.3;SNRNP25,downstream_gene_variant,,ENST00000293861,;SNRNP25,downstream_gene_variant,,ENST00000383018,NM_024571.3;SNRNP25,downstream_gene_variant,,ENST00000417493,;RHBDF1,downstream_gene_variant,,ENST00000419764,;RHBDF1,upstream_gene_variant,,ENST00000448893,;RHBDF1,downstream_gene_variant,,ENST00000450643,;RHBDF1,3_prime_UTR_variant,,ENST00000428730,;RHBDF1,non_coding_transcript_exon_variant,,ENST00000482904,;SNRNP25,downstream_gene_variant,,ENST00000397876,;RHBDF1,downstream_gene_variant,,ENST00000417043,;SNRNP25,downstream_gene_variant,,ENST00000466183,;RHBDF1,downstream_gene_variant,,ENST00000472390,;SNRNP25,downstream_gene_variant,,ENST00000481947,;RHBDF1,upstream_gene_variant,,ENST00000486045,;RHBDF1,downstream_gene_variant,,ENST00000487201,;RHBDF1,upstream_gene_variant,,ENST00000493647,;,regulatory_region_variant,,ENSR00000082117,; G ENSG00000007384 ENST00000262316 Transcript missense_variant 1474/2992 1331/2568 444/855 N/T aAc/aCc 1 -1 RHBDF1 HGNC HGNC:20561 protein_coding YES CCDS32344.1 ENSP00000262316 Q96CC6 UPI00001A5206 NM_022450.3 tolerated(0.18) benign(0.038) 10/18 Gene3D:1.20.1540.10,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF26,Superfamily_domains:SSF144091 MODERATE 1 SNV 1 PASS GTT . . 61449 NPIPB11 . GRCh38 chr16 29383062 29383062 + Missense_Mutation SNP A A G rs548760421 7316-2901 BS_S0WS43HJ A A c.1870T>C p.Tyr624His p.Y624H ENST00000524087 8/8 66 52 5 25 24 0 NPIPB11,missense_variant,p.Tyr624His,ENST00000524087,NM_001310137.1;NPIPB11,downstream_gene_variant,,ENST00000614927,;AC025279.3,downstream_gene_variant,,ENST00000622398,; G ENSG00000254206 ENST00000524087 Transcript missense_variant 1945/3653 1870/3486 624/1161 Y/H Tac/Cac rs548760421 1 -1 NPIPB11 HGNC HGNC:37453 protein_coding YES ENSP00000430853 E5RHQ5 UPI0001E8F094 NM_001310137.1 tolerated_low_confidence(1) benign(0.03) 8/8 0.0012 0.003 0.002 MODERATE 1 SNV 5 PASS TAT . . 0.0001588 6.853e-05 6.025e-05 0.0002946 0.0001338 29383062 BPTF . GRCh38 chr17 67825986 67825986 + Missense_Mutation SNP A A C novel 7316-2901 BS_S0WS43HJ A A c.262A>C p.Ser88Arg p.S88R ENST00000306378 1/28 90 61 16 26 26 0 BPTF,missense_variant,p.Ser88Arg,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Ser88Arg,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Ser88Arg,ENST00000544778,;BPTF,upstream_gene_variant,,ENST00000335221,;BPTF,upstream_gene_variant,,ENST00000342579,;BPTF,upstream_gene_variant,,ENST00000424123,;BPTF,upstream_gene_variant,,ENST00000644067,;,regulatory_region_variant,,ENSR00000097434,; C ENSG00000171634 ENST00000306378 Transcript missense_variant 322/9688 262/8763 88/2920 S/R Agc/Cgc 1 1 BPTF HGNC HGNC:3581 protein_coding YES CCDS11673.1 ENSP00000307208 Q12830 UPI00002263BF NM_182641.3 tolerated_low_confidence(0.18) benign(0.244) 1/28 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS CAG . . 67825986 ANKRD30B . GRCh38 chr18 14779987 14779987 + Missense_Mutation SNP G G A rs76927023 7316-2901 BS_S0WS43HJ G G c.1448G>A p.Arg483Gln p.R483Q ENST00000358984 11/36 95 80 15 40 40 0 ANKRD30B,missense_variant,p.Arg483Gln,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Arg483Gln,ENST00000580206,; A ENSG00000180777 ENST00000358984 Transcript missense_variant 1628/4359 1448/4179 483/1392 R/Q cGa/cAa rs76927023,COSM1303595,COSM1303594 1 1 ANKRD30B HGNC HGNC:24165 protein_coding YES CCDS54182.1 ENSP00000351875 Q9BXX2 UPI0000425FF7 NM_001145029.1 tolerated(1) benign(0.003) 11/36 hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF46 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGA . . 0.0869 0.09559 0.07312 0.02879 0.07295 0.06293 0.1118 0.06701 0.06025 14779987 GATA6 . GRCh38 chr18 22172142 22172142 + Missense_Mutation SNP A A C novel 7316-2901 BS_S0WS43HJ A A c.998A>C p.His333Pro p.H333P ENST00000269216 2/7 93 68 12 29 29 0 GATA6,missense_variant,p.His333Pro,ENST00000269216,NM_005257.5;GATA6,missense_variant,p.His333Pro,ENST00000581694,;GATA6-AS1,upstream_gene_variant,,ENST00000579431,;GATA6-AS1,upstream_gene_variant,,ENST00000583490,;GATA6-AS1,upstream_gene_variant,,ENST00000584201,;GATA6-AS1,upstream_gene_variant,,ENST00000584373,;AC091588.1,downstream_gene_variant,,ENST00000578504,;,regulatory_region_variant,,ENSR00000285324,; C ENSG00000141448 ENST00000269216 Transcript missense_variant 1275/3770 998/1788 333/595 H/P cAt/cCt 1 1 GATA6 HGNC HGNC:4174 protein_coding YES CCDS11872.1 ENSP00000269216 Q92908 UPI0000201AC8 NM_005257.5 deleterious(0.02) possibly_damaging(0.904) 2/7 Pfam_domain:PF05349,PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF23,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAT . . 22172142 SAMD1 . GRCh38 chr19 14090369 14090369 + Missense_Mutation SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.52A>C p.Thr18Pro p.T18P ENST00000533683 1/5 56 40 12 24 24 0 SAMD1,missense_variant,p.Thr18Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 340/2164 52/1299 18/432 T/P Acg/Ccg 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.063) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090369 LRP3 . GRCh38 chr19 33194787 33194787 + Translation_Start_Site SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.2T>G p.Met1? p.M1? ENST00000253193 1/7 68 52 12 41 39 1 LRP3,start_lost,p.Met1?,ENST00000253193,NM_002333.3;LRP3,intron_variant,,ENST00000592484,;LRP3,upstream_gene_variant,,ENST00000590275,;,regulatory_region_variant,,ENSR00000108781,; G ENSG00000130881 ENST00000253193 Transcript start_lost 204/3807 2/2313 1/770 M/R aTg/aGg 1 1 LRP3 HGNC HGNC:6695 protein_coding YES CCDS12430.1 ENSP00000253193 O75074 UPI0000047A9C NM_002333.3 deleterious_low_confidence(0) benign(0.093) 1/7 HIGH 1 SNV 1 PASS ATG . . 33194787 LMTK3 . GRCh38 chr19 48499330 48499330 + Missense_Mutation SNP A A C novel 7316-2901 BS_S0WS43HJ A A c.1826T>G p.Val609Gly p.V609G ENST00000270238 12/16 115 88 16 29 28 0 LMTK3,missense_variant,p.Val580Gly,ENST00000600059,;LMTK3,missense_variant,p.Val609Gly,ENST00000270238,NM_001080434.1; C ENSG00000142235 ENST00000270238 Transcript missense_variant 1826/4972 1826/4470 609/1489 V/G gTg/gGg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) possibly_damaging(0.451) 12/16 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48499330 KCNC3 . GRCh38 chr19 50323140 50323140 + Missense_Mutation SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.1813A>C p.Met605Leu p.M605L ENST00000477616 2/5 95 73 12 35 35 0 KCNC3,missense_variant,p.Met605Leu,ENST00000376959,;KCNC3,missense_variant,p.Met605Leu,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000474951,; G ENSG00000131398 ENST00000477616 Transcript missense_variant 2108/3176 1813/2274 605/757 M/L Atg/Ctg 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 tolerated_low_confidence(0.59) benign(0) 2/5 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF184,mobidb-lite MODERATE 1 SNV 1 1 PASS ATG . . 50323140 EPN1 . GRCh38 chr19 55695306 55695306 + Missense_Mutation SNP A A C rs755464988 7316-2901 BS_S0WS43HJ A A c.1939A>C p.Met647Leu p.M647L ENST00000411543 11/11 118 102 13 39 36 1 EPN1,missense_variant,p.Met561Leu,ENST00000270460,NM_001130072.1;EPN1,missense_variant,p.Met647Leu,ENST00000411543,NM_001130071.1;EPN1,missense_variant,p.Met535Leu,ENST00000085079,NM_013333.3;EPN1,intron_variant,,ENST00000589704,;AC010525.1,upstream_gene_variant,,ENST00000585559,;EPN1,upstream_gene_variant,,ENST00000587937,;EPN1,downstream_gene_variant,,ENST00000586194,; C ENSG00000063245 ENST00000411543 Transcript missense_variant 2486/2621 1939/1989 647/662 M/L Atg/Ctg rs755464988,COSM6199294,COSM6199293 1 1 EPN1 HGNC HGNC:21604 protein_coding YES CCDS46198.1 ENSP00000406209 Q9Y6I3 UPI000059D7B7 NM_001130071.1 tolerated(0.21) benign(0.006) 11/11 hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF48,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CAT . . 55695306 RUNX1 . GRCh38 chr21 34792313 34792313 + Missense_Mutation SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.1265A>C p.Glu422Ala p.E422A ENST00000300305 8/8 78 55 8 32 31 1 RUNX1,missense_variant,p.Glu395Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Glu422Ala,ENST00000300305,;RUNX1,missense_variant,p.Glu422Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Glu331Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; G ENSG00000159216 ENST00000300305 Transcript missense_variant 1710/6222 1265/1443 422/480 E/A gAg/gCg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) benign(0.079) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS CTC . . 34792313 CSF2RB . GRCh38 chr22 36937585 36937585 + Missense_Mutation SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.1777T>G p.Tyr593Asp p.Y593D ENST00000403662 14/14 110 95 14 39 39 0 CSF2RB,missense_variant,p.Tyr593Asp,ENST00000403662,NM_000395.2;CSF2RB,missense_variant,p.Tyr593Asp,ENST00000262825,;CSF2RB,missense_variant,p.Tyr599Asp,ENST00000406230,; G ENSG00000100368 ENST00000403662 Transcript missense_variant 1999/4863 1777/2694 593/897 Y/D Tac/Gac 1 1 CSF2RB HGNC HGNC:2436 protein_coding YES CCDS13936.1 ENSP00000384053 P32927 UPI0000128C9F NM_000395.2 deleterious(0) probably_damaging(0.999) 14/14 mobidb-lite,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,PIRSF_domain:PIRSF001956 MODERATE 1 SNV 5 1 PASS CTA . . 36937585 FAM47C . GRCh38 chrX 37009295 37009295 + Missense_Mutation SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.885T>G p.His295Gln p.H295Q ENST00000358047 1/1 66 51 6 28 25 0 FAM47C,missense_variant,p.His295Gln,ENST00000358047,NM_001013736.2;,regulatory_region_variant,,ENSR00000340352,; G ENSG00000198173 ENST00000358047 Transcript missense_variant 899/3270 885/3108 295/1035 H/Q caT/caG 1 1 FAM47C HGNC HGNC:25301 protein_coding YES CCDS35227.1 ENSP00000367913 Q5HY64 UPI000041ABF8 NM_001013736.2 tolerated(0.2) benign(0.011) 1/1 mobidb-lite,hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642 MODERATE 1 SNV 1 PASS ATC . . 37009295 GLA . GRCh38 chrX 101403836 101403836 + Missense_Mutation SNP T T G novel 7316-2901 BS_S0WS43HJ T T c.344A>C p.His115Pro p.H115P ENST00000218516 2/7 91 82 8 35 35 0 GLA,missense_variant,p.His115Pro,ENST00000218516,NM_000169.2;RPL36A-HNRNPH2,intron_variant,,ENST00000409170,NM_001199973.1;RPL36A-HNRNPH2,intron_variant,,ENST00000409338,NM_001199974.1;HNRNPH2,upstream_gene_variant,,ENST00000316594,NM_001032393.2,NM_019597.4;GLA,non_coding_transcript_exon_variant,,ENST00000479445,;GLA,non_coding_transcript_exon_variant,,ENST00000486121,;GLA,non_coding_transcript_exon_variant,,ENST00000480513,;GLA,upstream_gene_variant,,ENST00000468823,;GLA,missense_variant,p.His115Pro,ENST00000493905,; G ENSG00000102393 ENST00000218516 Transcript missense_variant 366/1318 344/1290 115/429 H/P cAt/cCt 1 -1 GLA HGNC HGNC:4296 protein_coding YES CCDS14484.1 ENSP00000218516 P06280 Q53Y83 UPI0000033A30 NM_000169.2 tolerated(0.12) benign(0.198) 2/7 PDB-ENSP_mappings:1r46.A,PDB-ENSP_mappings:1r46.B,PDB-ENSP_mappings:1r47.A,PDB-ENSP_mappings:1r47.B,Gene3D:3.20.20.70,PDB-ENSP_mappings:3gxn.A,PDB-ENSP_mappings:3gxn.B,PDB-ENSP_mappings:3gxp.A,PDB-ENSP_mappings:3gxp.B,PDB-ENSP_mappings:3gxt.A,PDB-ENSP_mappings:3gxt.B,PDB-ENSP_mappings:3hg2.A,PDB-ENSP_mappings:3hg2.B,PDB-ENSP_mappings:3hg3.A,PDB-ENSP_mappings:3hg3.B,PDB-ENSP_mappings:3hg4.A,PDB-ENSP_mappings:3hg4.B,PDB-ENSP_mappings:3hg5.A,PDB-ENSP_mappings:3hg5.B,PDB-ENSP_mappings:3lx9.A,PDB-ENSP_mappings:3lx9.B,PDB-ENSP_mappings:3lxa.A,PDB-ENSP_mappings:3lxa.B,PDB-ENSP_mappings:3lxb.A,PDB-ENSP_mappings:3lxb.B,PDB-ENSP_mappings:3lxc.A,PDB-ENSP_mappings:3lxc.B,PDB-ENSP_mappings:3s5y.A,PDB-ENSP_mappings:3s5y.B,PDB-ENSP_mappings:3s5z.A,PDB-ENSP_mappings:3s5z.B,PDB-ENSP_mappings:3tv8.A,PDB-ENSP_mappings:3tv8.B,PDB-ENSP_mappings:4nxs.A,PDB-ENSP_mappings:4nxs.B,Pfam_domain:PF16499,hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF14,Superfamily_domains:SSF51445,cd14792 MODERATE 1 SNV 1 1 PASS ATG . . 101403836 DUSP9 . GRCh38 chrX 153648201 153648201 + Missense_Mutation SNP A A C novel 7316-2901 BS_S0WS43HJ A A c.248A>C p.Gln83Pro p.Q83P ENST00000342782 2/4 104 73 20 42 42 0 DUSP9,missense_variant,p.Gln83Pro,ENST00000342782,NM_001318503.1;DUSP9,missense_variant,p.Gln83Pro,ENST00000370167,NM_001395.3;DUSP9,downstream_gene_variant,,ENST00000477033,;,regulatory_region_variant,,ENSR00000249577,; C ENSG00000130829 ENST00000342782 Transcript missense_variant 513/2433 248/1155 83/384 Q/P cAg/cCg 1 1 DUSP9 HGNC HGNC:3076 protein_coding YES CCDS14724.1 ENSP00000345853 Q99956 UPI0000049C1B NM_001318503.1 tolerated(0.06) benign(0.302) 2/4 Gene3D:3.40.250.10,Pfam_domain:PF00581,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50206,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF388,SMART_domains:SM00450,Superfamily_domains:SSF52821,cd01446 MODERATE 1 SNV 1 PASS CAG . . 153648201 MT-CYB . GRCh38 chrM 15650 15650 + Missense_Mutation SNP G G A novel 7316-2901 BS_S0WS43HJ G G c.904G>A p.Ala302Thr p.A302T ENST00000361789 1/1 17725 17256 367 4483 4404 14 MT-CYB,missense_variant,p.Ala302Thr,ENST00000361789,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND5,downstream_gene_variant,,ENST00000361567,;MT-ND6,upstream_gene_variant,,ENST00000361681,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,upstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339372,; A ENSG00000198727 ENST00000361789 Transcript missense_variant 904/1141 904/1141 302/380 A/T Gca/Aca 1 1 MT-CYB HGNC HGNC:7427 protein_coding YES ENSP00000354554 P00156 Q0ZFD6 UPI0000DA7DCA tolerated_low_confidence(0.36) benign(0) 1/1 PDB-ENSP_mappings:5xte.J,PDB-ENSP_mappings:5xte.V,PDB-ENSP_mappings:5xth.AJ,PDB-ENSP_mappings:5xth.AV,PDB-ENSP_mappings:5xti.AJ,PDB-ENSP_mappings:5xti.AV,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS51003,cd00290,hmmpanther:PTHR19271,Pfam_domain:PF00032,Gene3D:1.20.810.10,PIRSF_domain:PIRSF038885,Superfamily_domains:SSF81648 MODERATE 1 SNV 1 PASS AGC . . 15650 KLF18 . GRCh38 chr1 44139196 44139196 + Missense_Mutation SNP G G C rs77624525 7316-302 BS_8782G07F G G c.2436C>G p.Ile812Met p.I812M ENST00000634670 1/2 42 25 8 31 29 0 KLF18,missense_variant,p.Ile812Met,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; C ENSG00000283039 ENST00000634670 Transcript missense_variant 2436/3159 2436/3159 812/1052 I/M atC/atG rs77624525 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(1) benign(0.062) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS TGA . . 44139196 LRP8 . GRCh38 chr1 53247055 53247055 + Missense_Mutation SNP C T T rs5174 7316-302 BS_8782G07F C C c.2855G>A p.Arg952Gln p.R952Q ENST00000306052 19/19 52 9 43 43 32 10 LRP8,missense_variant,p.Arg952Gln,ENST00000306052,NM_004631.4;LRP8,missense_variant,p.Arg893Gln,ENST00000371454,NM_001018054.2;LRP8,missense_variant,p.Arg446Gln,ENST00000465675,;LRP8,missense_variant,p.Arg689Gln,ENST00000354412,NM_017522.4;LRP8,missense_variant,p.Arg782Gln,ENST00000347547,NM_033300.3;AL606760.1,downstream_gene_variant,,ENST00000458151,;LRP8,missense_variant,p.Arg110Gln,ENST00000529670,;LRP8,splice_region_variant,,ENST00000480045,;LRP8,downstream_gene_variant,,ENST00000459674,;,regulatory_region_variant,,ENSR00000006495,; T ENSG00000157193 ENST00000306052 Transcript missense_variant,splice_region_variant 2957/7648 2855/2892 952/963 R/Q cGa/cAa rs5174,CM074332,COSM3751296 1 -1 LRP8 HGNC HGNC:6700 protein_coding YES CCDS578.1 ENSP00000303634 Q14114 UPI00001AF338 NM_004631.4 deleterious_low_confidence(0.01) probably_damaging(0.978) 19/19 hmmpanther:PTHR43966,hmmpanther:PTHR43966:SF1 0.1444 0.0166 0.1772 0.0327 0.3956 0.1503 0.08284 0.3955 risk_factor 0,0,1 16642433,22938532,17847002,21738487,15986317,18592168,21316997,22404453,22889673,26637325,19439088,12399018 MODERATE 1 SNV 1 1,1,1 1 PASS TCG . . 0.294 0.06305 0.1904 0.2934 0.0318 0.4271 0.4018 0.3022 0.1597 53247055 RPTN . GRCh38 chr1 152155523 152155523 + Missense_Mutation SNP G G T rs1373195943 7316-302 BS_8782G07F G G c.1576C>A p.Pro526Thr p.P526T ENST00000316073 3/3 85 70 9 33 31 0 RPTN,missense_variant,p.Pro526Thr,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; T ENSG00000215853 ENST00000316073 Transcript missense_variant 1641/3569 1576/2355 526/784 P/T Cca/Aca rs1373195943,COSM4722791,COSM341811 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGC . . 0.000648 0.001641 0.000782 0.0005607 0.003284 0.0003551 0.0006909 0.0005766 152155523 FLG2 . GRCh38 chr1 152350902 152350902 + Missense_Mutation SNP T T C rs1344798679 7316-302 BS_8782G07F T T c.6884A>G p.Glu2295Gly p.E2295G ENST00000388718 3/3 79 66 11 45 45 0 FLG2,missense_variant,p.Glu2295Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 6957/9124 6884/7176 2295/2391 E/G gAa/gGa rs1344798679,COSM6263566 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.44) benign(0.106) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS TTC . . 152350902 FLG2 . GRCh38 chr1 152350905 152350905 + Missense_Mutation SNP A A T rs1362832418 7316-302 BS_8782G07F A A c.6881T>A p.Leu2294Gln p.L2294Q ENST00000388718 3/3 76 64 10 45 45 0 FLG2,missense_variant,p.Leu2294Gln,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 6954/9124 6881/7176 2294/2391 L/Q cTg/cAg rs1362832418 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.84) benign(0.094) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS CAG . . 152350905 FLG2 . GRCh38 chr1 152351670 152351670 + Missense_Mutation SNP T T G rs141276572 7316-302 BS_8782G07F T T c.6116A>C p.His2039Pro p.H2039P ENST00000388718 3/3 82 64 13 40 38 0 FLG2,missense_variant,p.His2039Pro,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 6189/9124 6116/7176 2039/2391 H/P cAc/cCc rs141276572 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 deleterious(0) possibly_damaging(0.854) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487 MODERATE SNV 5 1 PASS GTG . . 0.0002618 0.003919 0.0001206 8.969e-06 0.0005492 152351670 FLG2 . GRCh38 chr1 152351706 152351706 + Missense_Mutation SNP G G C rs201561111 7316-302 BS_8782G07F G G c.6080C>G p.Ala2027Gly p.A2027G ENST00000388718 3/3 88 68 16 42 38 1 FLG2,missense_variant,p.Ala2027Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 6153/9124 6080/7176 2027/2391 A/G gCa/gGa rs201561111,COSM5950694 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0.0016 0.0045 0.002 0,1 MODERATE SNV 5 0,1 1 PASS TGC . . 2.477e-05 0.0001852 4.157e-05 2.069e-05 152351706 FLG2 . GRCh38 chr1 152352157 152352157 + Missense_Mutation SNP T T C rs1339373487 7316-302 BS_8782G07F T T c.5629A>G p.Arg1877Gly p.R1877G ENST00000388718 3/3 105 88 6 43 43 0 FLG2,missense_variant,p.Arg1877Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 5702/9124 5629/7176 1877/2391 R/G Aga/Gga rs1339373487,COSM6263568 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS CTC . . 152352157 FLG2 . GRCh38 chr1 152352864 152352864 + Missense_Mutation SNP C C G 7316-302 BS_8782G07F C C c.4922G>C p.Arg1641Thr p.R1641T ENST00000388718 3/3 84 73 9 41 39 0 FLG2,missense_variant,p.Arg1641Thr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 4995/9124 4922/7176 1641/2391 R/T aGa/aCa COSM5200092 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.6) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS TCT . . 152352864 FLG2 . GRCh38 chr1 152355334 152355334 + Missense_Mutation SNP C C A rs201979853 7316-302 BS_8782G07F C C c.2452G>T p.Ala818Ser p.A818S ENST00000388718 3/3 118 102 7 41 41 0 FLG2,missense_variant,p.Ala818Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 2525/9124 2452/7176 818/2391 A/S Gct/Tct rs201979853,COSM5950887 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCG . . 2.404e-05 0.0001749 1.012e-05 0.0002303 3.854e-05 152355334 CRNN . GRCh38 chr1 152410114 152410114 + Missense_Mutation SNP C C T rs763198493 7316-302 BS_8782G07F C C c.968G>A p.Gly323Asp p.G323D ENST00000271835 3/3 81 70 11 34 32 0 CRNN,missense_variant,p.Gly323Asp,ENST00000271835,NM_016190.2;FLG-AS1,intron_variant,,ENST00000411804,;FLG-AS1,downstream_gene_variant,,ENST00000628475,; T ENSG00000143536 ENST00000271835 Transcript missense_variant 1031/1902 968/1488 323/495 G/D gGc/gAc rs763198493,COSM6336281 1 -1 CRNN HGNC HGNC:1230 protein_coding YES CCDS1010.1 ENSP00000271835 Q9UBG3 UPI000006E106 NM_016190.2 tolerated(0.21) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11639:SF26,hmmpanther:PTHR11639 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 152410114 F5 . GRCh38 chr1 169540969 169540969 + Missense_Mutation SNP T T G novel 7316-302 BS_8782G07F T T c.4121A>C p.Asn1374Thr p.N1374T ENST00000367797 13/25 80 63 13 44 43 1 F5,missense_variant,p.Asn1379Thr,ENST00000367796,;F5,missense_variant,p.Asn1374Thr,ENST00000367797,NM_000130.4; G ENSG00000198734 ENST00000367797 Transcript missense_variant 4323/7024 4121/6675 1374/2224 N/T aAc/aCc 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(1) benign(0) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199 MODERATE 1 SNV 1 1 PASS GTT . . 169540969 AC098934.2 . GRCh38 chr1 202873049 202873049 + Splice_Region SNP T T G rs1173802331 7316-302 BS_8782G07F T T n.137-8T>G ENST00000456105 92 73 7 34 28 0 AC098934.2,splice_region_variant,,ENST00000456105,;AC098934.2,upstream_gene_variant,,ENST00000438944,; G ENSG00000234996 ENST00000456105 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1173802331 1 1 AC098934.2 Clone_based_ensembl_gene processed_transcript YES 2/2 LOW 1 SNV 2 PASS TTG . . 202873049 ZNF678 . GRCh38 chr1 227654802 227654802 + Missense_Mutation SNP T T A rs1271913939 7316-302 BS_8782G07F T T c.552T>A p.Asp184Glu p.D184E ENST00000343776 4/4 92 81 7 42 40 0 ZNF678,missense_variant,p.Asp184Glu,ENST00000343776,;ZNF678,missense_variant,p.Asp184Glu,ENST00000397097,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,NM_178549.3;ZNF678,downstream_gene_variant,,ENST00000465266,; A ENSG00000181450 ENST00000343776 Transcript missense_variant 897/8556 552/1578 184/525 D/E gaT/gaA rs1271913939,COSM6290868,COSM6290867,COSM4744656,COSM4744655 1 1 ZNF678 HGNC HGNC:28652 protein_coding YES ENSP00000344828 Q5SXM1 UPI000019862A tolerated(1) benign(0.007) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF714,hmmpanther:PTHR24377:SF714,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS ATG . . 227654802 OR2G6 . GRCh38 chr1 248522066 248522066 + Missense_Mutation SNP C C A 7316-302 BS_8782G07F C C c.420C>A p.Phe140Leu p.F140L ENST00000641804 2/2 100 91 9 28 28 0 OR2G6,missense_variant,p.Phe140Leu,ENST00000641804,;OR2G6,missense_variant,p.Phe140Leu,ENST00000641501,;OR2G6,missense_variant,p.Phe140Leu,ENST00000343414,NM_001013355.1; A ENSG00000188558 ENST00000641804 Transcript missense_variant 813/6084 420/951 140/316 F/L ttC/ttA COSM907349 1 1 OR2G6 HGNC HGNC:27019 protein_coding YES CCDS31119.1 ENSP00000493355 Q5TZ20 A0A126GW53 UPI0000237253 tolerated(1) benign(0) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF110,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15947 1 MODERATE 1 SNV 1 PASS TCT . . 248522066 C2orf16 . GRCh38 chr2 27582343 27582343 + Missense_Mutation SNP A A G rs1417017722 7316-302 BS_8782G07F A A c.5771A>G p.Asn1924Ser p.N1924S ENST00000408964 1/1 94 84 8 54 52 1 C2orf16,missense_variant,p.Asn5328Ser,ENST00000447166,;C2orf16,missense_variant,p.Asn1924Ser,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; G ENSG00000221843 ENST00000408964 Transcript missense_variant 5822/6200 5771/5955 1924/1984 N/S aAc/aGc rs1417017722 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated_low_confidence(0.89) benign(0) 1/1 hmmpanther:PTHR33888,mobidb-lite MODERATE SNV PASS AAC . . 27582343 C2orf16 . GRCh38 chr2 27582348 27582348 + Missense_Mutation SNP T T C novel 7316-302 BS_8782G07F T T c.5776T>C p.Cys1926Arg p.C1926R ENST00000408964 1/1 95 88 7 52 51 0 C2orf16,missense_variant,p.Cys5330Arg,ENST00000447166,;C2orf16,missense_variant,p.Cys1926Arg,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; C ENSG00000221843 ENST00000408964 Transcript missense_variant 5827/6200 5776/5955 1926/1984 C/R Tgc/Cgc 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated_low_confidence(0.91) benign(0) 1/1 hmmpanther:PTHR33888,mobidb-lite MODERATE SNV PASS TTG . . 27582348 TGOLN2 . GRCh38 chr2 85327484 85327484 + Missense_Mutation SNP T T C rs1331637733 7316-302 BS_8782G07F T T c.248A>G p.Lys83Arg p.K83R ENST00000409232 2/4 92 78 12 24 24 0 TGOLN2,missense_variant,p.Lys83Arg,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Lys83Arg,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Lys83Arg,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Lys83Arg,ENST00000409015,;TGOLN2,missense_variant,p.Lys83Arg,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Lys83Arg,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; C ENSG00000152291 ENST00000409232 Transcript missense_variant 310/2235 248/1362 83/453 K/R aAg/aGg rs1331637733,COSM4810921,COSM1293996 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(0.11) benign(0.007) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CTT . . 85327484 TGOLN2 . GRCh38 chr2 85327493 85327493 + Missense_Mutation SNP G G C rs1238981161 7316-302 BS_8782G07F G G c.239C>G p.Thr80Ser p.T80S ENST00000409232 2/4 95 78 15 24 24 0 TGOLN2,missense_variant,p.Thr80Ser,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Thr80Ser,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000409015,;TGOLN2,missense_variant,p.Thr80Ser,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; C ENSG00000152291 ENST00000409232 Transcript missense_variant 301/2235 239/1362 80/453 T/S aCc/aGc rs1238981161,COSM6288195,COSM1722795 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(1) benign(0) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGT . . 85327493 IGSF10 . GRCh38 chr3 151448477 151448477 + Missense_Mutation SNP C C T novel 7316-302 BS_8782G07F C C c.1504G>A p.Asp502Asn p.D502N ENST00000282466 4/6 84 64 17 32 32 0 IGSF10,missense_variant,p.Asp502Asn,ENST00000282466,NM_178822.4; T ENSG00000152580 ENST00000282466 Transcript missense_variant 1504/11067 1504/7872 502/2623 D/N Gac/Aac 1 -1 IGSF10 HGNC HGNC:26384 protein_coding YES CCDS3160.1 ENSP00000282466 Q6WRI0 UPI00001D629A NM_178822.4 deleterious(0.02) benign(0.153) 4/6 Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR45103,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS TCT . . 151448477 MUC7 . GRCh38 chr4 70481429 70481429 + Missense_Mutation SNP T T C rs1378574454 7316-302 BS_8782G07F T T c.685T>C p.Ser229Pro p.S229P ENST00000413702 4/4 52 37 9 27 23 0 MUC7,missense_variant,p.Ser229Pro,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Ser229Pro,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Ser229Pro,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,; C ENSG00000171195 ENST00000413702 Transcript missense_variant 973/2540 685/1134 229/377 S/P Tca/Cca rs1378574454,COSM1057074 1 1 MUC7 HGNC HGNC:7518 protein_coding YES CCDS3541.1 ENSP00000407422 Q8TAX7 UPI000013E9DD NM_001145006.1 tolerated(0.19) benign(0.009) 4/4 hmmpanther:PTHR41683,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 4 0,1 1 PASS CTC . . 70481429 MDC1 . GRCh38 chr6 30704964 30704964 + Missense_Mutation SNP G G C rs1427731221 7316-302 BS_8782G07F G G c.4219C>G p.Leu1407Val p.L1407V ENST00000376406 10/15 77 66 8 41 39 0 MDC1,missense_variant,p.Leu1407Val,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; C ENSG00000137337 ENST00000376406 Transcript missense_variant 4867/7576 4219/6270 1407/2089 L/V Ctt/Gtt rs1427731221 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS AGT . . 3.034e-05 0.0001012 0.000109 6.462e-05 9.322e-06 3.579e-05 30704964 MDC1 . GRCh38 chr6 30705043 30705043 + Missense_Mutation SNP C C G rs1347282644 7316-302 BS_8782G07F C C c.4140G>C p.Glu1380Asp p.E1380D ENST00000376406 10/15 82 65 14 41 38 1 MDC1,missense_variant,p.Glu1380Asp,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; G ENSG00000137337 ENST00000376406 Transcript missense_variant 4788/7576 4140/6270 1380/2089 E/D gaG/gaC rs1347282644,COSM6212372,COSM6212371 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 0,1,1 MODERATE SNV 5 0,1,1 PASS GCT . . 0.0001594 7.799e-05 0.0002887 0.0004566 9.719e-05 0.0004268 0.0002933 30705043 MUCL3 . GRCh38 chr6 30951342 30951342 + Missense_Mutation SNP A A G rs1332690112 7316-302 BS_8782G07F A A c.2878A>G p.Lys960Glu p.K960E ENST00000462446 2/3 43 32 6 43 42 0 MUCL3,missense_variant,p.Lys1027Glu,ENST00000636043,;MUCL3,missense_variant,p.Lys960Glu,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320203,; G ENSG00000168631 ENST00000462446 Transcript missense_variant 2906/5314 2878/4182 960/1393 K/E Aag/Gag rs1332690112 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.74) benign(0.444) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS AAA . . 30951342 MUCL3 . GRCh38 chr6 30951411 30951411 + Missense_Mutation SNP A A C rs200715646 7316-302 BS_8782G07F A A c.2947A>C p.Asn983His p.N983H ENST00000462446 2/3 47 29 11 47 40 2 MUCL3,missense_variant,p.Asn1050His,ENST00000636043,;MUCL3,missense_variant,p.Asn983His,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320203,; C ENSG00000168631 ENST00000462446 Transcript missense_variant 2975/5314 2947/4182 983/1393 N/H Aat/Cat rs200715646,COSM6456121 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(1) benign(0.028) 2/3 mobidb-lite,hmmpanther:PTHR22094 0.0012 0.0086 0,1 MODERATE SNV 5 0,1 1 PASS AAA . . 0.0008062 0.0002525 0.001937 0.0007721 0.0008319 0.003044 4.398e-05 30951411 MUCL3 . GRCh38 chr6 30951519 30951519 + Missense_Mutation SNP G G A rs546915230 7316-302 BS_8782G07F G G c.3055G>A p.Glu1019Lys p.E1019K ENST00000462446 2/3 86 77 7 47 46 0 MUCL3,missense_variant,p.Glu1086Lys,ENST00000636043,;MUCL3,missense_variant,p.Glu1019Lys,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320203,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 3083/5314 3055/4182 1019/1393 E/K Gag/Aag rs546915230,COSM5749715 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.97) benign(0.255) 2/3 mobidb-lite,hmmpanther:PTHR22094 0.0002 0.001 0,1 MODERATE SNV 5 0,1 1 PASS AGA . . 30951519 VWA7 . GRCh38 chr6 31765940 31765940 + Missense_Mutation SNP G G C rs1292548716 7316-302 BS_8782G07F G G c.2442C>G p.Asn814Lys p.N814K ENST00000375688 16/17 112 82 29 29 29 0 VWA7,missense_variant,p.Asn814Lys,ENST00000375688,NM_025258.2;MSH5,downstream_gene_variant,,ENST00000375703,NM_172165.3;MSH5,downstream_gene_variant,,ENST00000375740,NM_025259.5;MSH5,downstream_gene_variant,,ENST00000375750,NM_172166.3;MSH5,downstream_gene_variant,,ENST00000375755,NM_002441.4;MSH5,downstream_gene_variant,,ENST00000395853,;SAPCD1,downstream_gene_variant,,ENST00000415669,NM_001039651.1;SAPCD1,downstream_gene_variant,,ENST00000425424,;MSH5,downstream_gene_variant,,ENST00000429846,;SAPCD1,downstream_gene_variant,,ENST00000433778,;SAPCD1-AS1,upstream_gene_variant,,ENST00000419679,;VWA7,downstream_gene_variant,,ENST00000467576,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000491552,;MSH5,downstream_gene_variant,,ENST00000423982,;MSH5,downstream_gene_variant,,ENST00000463144,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000476085,;MSH5,downstream_gene_variant,,ENST00000484309,;VWA7,downstream_gene_variant,,ENST00000486423,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000493662,;SAPCD1,downstream_gene_variant,,ENST00000494299,;MSH5,downstream_gene_variant,,ENST00000494458,;MSH5-SAPCD1,downstream_gene_variant,,ENST00000498473,;,regulatory_region_variant,,ENSR00000195594,; C ENSG00000204396 ENST00000375688 Transcript missense_variant 2643/2881 2442/2676 814/891 N/K aaC/aaG rs1292548716 1 -1 VWA7 HGNC HGNC:13939 protein_coding YES CCDS4721.2 ENSP00000364840 Q9Y334 A0A1U9X8T7 UPI0000E5AD19 NM_025258.2 tolerated(0.36) benign(0.009) 16/17 hmmpanther:PTHR14905:SF14,hmmpanther:PTHR14905 MODERATE SNV 5 PASS GGT . . 31765940 LINC01010 . GRCh38 chr6 134502781 134502781 + Splice_Region SNP A G G rs1040637 7316-302 BS_8782G07F A A n.276-7A>G ENST00000431422 82 18 64 20 16 4 LINC01010,splice_region_variant,,ENST00000431422,;LINC01010,splice_region_variant,,ENST00000440090,;LINC01010,splice_region_variant,,ENST00000456749,;AL078590.2,intron_variant,,ENST00000417483,; G ENSG00000236700 ENST00000431422 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1040637 1 1 LINC01010 HGNC HGNC:48978 lincRNA YES 2/2 0.779 0.882 0.7954 0.9464 0.5825 0.6575 24624911 LOW 1 SNV 2 PASS CAT . . 134502781 AC115220.1 . GRCh38 chr7 64015649 64015649 + Missense_Mutation SNP G G A rs1344972629 7316-302 BS_8782G07F G G c.884G>A p.Arg295Lys p.R295K ENST00000330020 4/4 107 87 17 37 37 0 AC115220.1,missense_variant,p.Arg295Lys,ENST00000330020,; A ENSG00000241149 ENST00000330020 Transcript missense_variant 972/1453 884/1155 295/384 R/K aGa/aAa rs1344972629 1 1 AC115220.1 Clone_based_ensembl_gene protein_coding YES ENSP00000492202 A0A1W2PQL4 UPI00097BA7A3 tolerated(1) benign(0.005) 4/4 Gene3D:2.30.30.380,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,hmmpanther:PTHR24384:SF100,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS AGA . . 64015649 ZNF680 . GRCh38 chr7 64521301 64521301 + Missense_Mutation SNP C C T rs867897241 7316-302 BS_8782G07F C C c.1453G>A p.Ala485Thr p.A485T ENST00000309683 4/4 122 110 8 46 45 0 ZNF680,missense_variant,p.Ala485Thr,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,downstream_gene_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,; T ENSG00000173041 ENST00000309683 Transcript missense_variant 1605/3022 1453/1593 485/530 A/T Gct/Act rs867897241,COSM4842996 1 -1 ZNF680 HGNC HGNC:26897 protein_coding YES CCDS34644.1 ENSP00000309330 Q8NEM1 UPI000019980A NM_178558.4 tolerated(1) benign(0.003) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF121,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GCA . . 64521301 ZNF92 . GRCh38 chr7 65399532 65399532 + Missense_Mutation SNP T T G novel 7316-302 BS_8782G07F T T c.1418T>G p.Ile473Arg p.I473R ENST00000328747 4/4 87 76 8 52 51 0 ZNF92,missense_variant,p.Ile473Arg,ENST00000328747,NM_152626.3;ZNF92,missense_variant,p.Ile441Arg,ENST00000357512,NM_001287532.1;ZNF92,missense_variant,p.Ile404Arg,ENST00000450302,NM_007139.3;ZNF92,missense_variant,p.Ile397Arg,ENST00000431504,NM_001287534.1,NM_001287533.1;,regulatory_region_variant,,ENSR00000212862,; G ENSG00000146757 ENST00000328747 Transcript missense_variant 1617/3210 1418/1761 473/586 I/R aTa/aGa 1 1 ZNF92 HGNC HGNC:13168 protein_coding YES CCDS34646.1 ENSP00000332595 Q03936 V9HVY7 UPI0000073CE6 NM_152626.3 tolerated(0.71) benign(0.006) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATA . . 65399532 ZNF92 . GRCh38 chr7 65399543 65399543 + Missense_Mutation SNP A A G rs148018551 7316-302 BS_8782G07F A A c.1429A>G p.Arg477Gly p.R477G ENST00000328747 4/4 94 75 14 48 47 1 ZNF92,missense_variant,p.Arg477Gly,ENST00000328747,NM_152626.3;ZNF92,missense_variant,p.Arg445Gly,ENST00000357512,NM_001287532.1;ZNF92,missense_variant,p.Arg408Gly,ENST00000450302,NM_007139.3;ZNF92,missense_variant,p.Arg401Gly,ENST00000431504,NM_001287534.1,NM_001287533.1;,regulatory_region_variant,,ENSR00000212862,; G ENSG00000146757 ENST00000328747 Transcript missense_variant 1628/3210 1429/1761 477/586 R/G Aga/Gga rs148018551 1 1 ZNF92 HGNC HGNC:13168 protein_coding YES CCDS34646.1 ENSP00000332595 Q03936 V9HVY7 UPI0000073CE6 NM_152626.3 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384,Gene3D:2.30.30.380,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TAG . . 65399543 SPDYE5 . GRCh38 chr7 75501468 75501468 + Missense_Mutation SNP T T C rs200936034 7316-302 BS_8782G07F T T c.862T>C p.Trp288Arg p.W288R ENST00000625065 6/8 88 70 16 33 32 0 SPDYE5,missense_variant,p.Trp248Arg,ENST00000624640,;SPDYE5,missense_variant,p.Trp288Arg,ENST00000625065,NM_001306141.1;SPDYE5,missense_variant,p.Trp288Arg,ENST00000455862,;PMS2P3,downstream_gene_variant,,ENST00000529061,; C ENSG00000170092 ENST00000625065 Transcript missense_variant 1285/1700 862/1209 288/402 W/R Tgg/Cgg rs200936034 1 1 SPDYE5 HGNC HGNC:35464 protein_coding YES CCDS78241.1 ENSP00000485398 A6NIY4 UPI000387D8EA NM_001306141.1 tolerated(1) benign(0) 6/8 Pfam_domain:PF11357,hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF15 0.0014 0.0014 0.001 0.005 MODERATE 1 SNV 5 PASS TTG . . 0.0001156 0.0001035 0.0008733 7.293e-05 75501468 MUC17 . GRCh38 chr7 101033382 101033382 + Missense_Mutation SNP T T A rs747878405 7316-302 BS_8782G07F T T c.1966T>A p.Ser656Thr p.S656T ENST00000306151 3/13 81 69 9 37 35 0 MUC17,missense_variant,p.Ser656Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser656Thr,ENST00000379439,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 2030/14247 1966/13482 656/4493 S/T Tcc/Acc rs747878405,COSM5956299 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CTC . . 101033382 MUC17 . GRCh38 chr7 101035312 101035312 + Missense_Mutation SNP T T C rs147387209 7316-302 BS_8782G07F T T c.3896T>C p.Leu1299Ser p.L1299S ENST00000306151 3/13 102 89 8 41 40 0 MUC17,missense_variant,p.Leu1299Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Leu1299Ser,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 3960/14247 3896/13482 1299/4493 L/S tTa/tCa rs147387209,COSM6237403 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS TTA . . 4.108e-06 6.595e-05 101035312 MUC17 . GRCh38 chr7 101039290 101039290 + Missense_Mutation SNP T T C rs142739196 7316-302 BS_8782G07F T T c.7874T>C p.Ile2625Thr p.I2625T ENST00000306151 3/13 97 81 13 38 38 0 MUC17,missense_variant,p.Ile2625Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile2625Thr,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 7938/14247 7874/13482 2625/4493 I/T aTc/aCc rs142739196 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.001) 3/13 hmmpanther:PTHR37999,mobidb-lite 0.003177 0.006163 MODERATE 1 SNV 1 PASS ATC . . 0.007683 0.001505 0.03036 0.002858 0.004604 0.005721 0.008691 0.001891 101039290 MUC17 . GRCh38 chr7 101041666 101041666 + Missense_Mutation SNP A A G rs879151573 7316-302 BS_8782G07F A A c.10250A>G p.Asn3417Ser p.N3417S ENST00000306151 3/13 115 96 12 38 37 0 MUC17,missense_variant,p.Asn3417Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn3417Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 10314/14247 10250/13482 3417/4493 N/S aAc/aGc rs879151573,COSM6292815 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.063) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 4.075e-06 3.267e-05 101041666 MUC17 . GRCh38 chr7 101042416 101042416 + Missense_Mutation SNP T T C rs147925756 7316-302 BS_8782G07F T T c.11000T>C p.Ile3667Thr p.I3667T ENST00000306151 3/13 135 119 14 33 33 0 MUC17,missense_variant,p.Ile3667Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile3667Thr,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 11064/14247 11000/13482 3667/4493 I/T aTc/aCc rs147925756 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.015) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0.0001163 MODERATE 1 SNV 1 PASS ATC . . 8.129e-06 1.793e-05 101042416 MUC17 . GRCh38 chr7 101042431 101042431 + Missense_Mutation SNP T T C novel 7316-302 BS_8782G07F T T c.11015T>C p.Val3672Ala p.V3672A ENST00000306151 3/13 122 104 10 35 35 0 MUC17,missense_variant,p.Val3672Ala,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Val3672Ala,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 11079/14247 11015/13482 3672/4493 V/A gTc/gCc 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.27) benign(0.082) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTC . . 101042431 ZNF786 . GRCh38 chr7 149070706 149070706 + Missense_Mutation SNP G G C rs1276661986 7316-302 BS_8782G07F G G c.2066C>G p.Ala689Gly p.A689G ENST00000491431 4/4 144 133 9 31 31 0 ZNF786,missense_variant,p.Ala603Gly,ENST00000316286,;ZNF786,missense_variant,p.Ala689Gly,ENST00000491431,NM_152411.3; C ENSG00000197362 ENST00000491431 Transcript missense_variant 2131/2874 2066/2349 689/782 A/G gCg/gGg rs1276661986 1 -1 ZNF786 HGNC HGNC:21806 protein_coding YES CCDS47738.1 ENSP00000417470 Q8N393 UPI000013FD40 NM_152411.3 tolerated(0.29) benign(0.059) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376:SF89,hmmpanther:PTHR24376,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CGC . . 149070706 ERICH1 . GRCh38 chr8 673456 673456 + Missense_Mutation SNP G G A rs201308356 7316-302 BS_8782G07F G G c.896C>T p.Ala299Val p.A299V ENST00000262109 4/6 54 46 6 27 27 0 ERICH1,missense_variant,p.Ala68Val,ENST00000522893,;ERICH1,missense_variant,p.Ala299Val,ENST00000262109,NM_207332.2,NM_001303100.1;ERICH1,missense_variant,p.Ala205Val,ENST00000522706,;ERICH1,non_coding_transcript_exon_variant,,ENST00000518895,;ERICH1,downstream_gene_variant,,ENST00000518277,;ERICH1,downstream_gene_variant,,ENST00000518313,;ERICH1,downstream_gene_variant,,ENST00000524138,;ERICH1,upstream_gene_variant,,ENST00000523053,;ERICH1,upstream_gene_variant,,ENST00000523415,;,regulatory_region_variant,,ENSR00000220411,; A ENSG00000104714 ENST00000262109 Transcript missense_variant 974/1813 896/1332 299/443 A/V gCg/gTg rs201308356,COSM5766773 1 -1 ERICH1 HGNC HGNC:27234 protein_coding YES CCDS5955.1 ENSP00000262109 Q86X53 UPI000000DB6B NM_207332.2,NM_001303100.1 tolerated(0.5) benign(0.033) 4/6 mobidb-lite,hmmpanther:PTHR22444 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 2.031e-05 2.979e-05 4.485e-05 2.686e-05 673456 RP1L1 . GRCh38 chr8 10608241 10608241 + Missense_Mutation SNP G G C rs1165736731 7316-302 BS_8782G07F G G c.5857C>G p.Gln1953Glu p.Q1953E ENST00000382483 4/4 41 29 8 36 32 0 RP1L1,missense_variant,p.Gln1953Glu,ENST00000382483,NM_178857.5; C ENSG00000183638 ENST00000382483 Transcript missense_variant 6081/7973 5857/7203 1953/2400 Q/E Cag/Gag rs1165736731,COSM1192567,COSM5450412 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(1) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS TGC . . 10608241 TEK . GRCh38 chr9 27168532 27168532 + Missense_Mutation SNP C C A novel 7316-302 BS_8782G07F C C c.402C>A p.Asp134Glu p.D134E ENST00000380036 3/23 145 125 20 33 32 1 TEK,missense_variant,p.Asp134Glu,ENST00000380036,NM_000459.4;TEK,missense_variant,p.Asp134Glu,ENST00000615002,;TEK,missense_variant,p.Asp134Glu,ENST00000406359,NM_001290077.1;TEK,missense_variant,p.Asp30Glu,ENST00000519097,NM_001290078.1;TEK,intron_variant,,ENST00000519080,; A ENSG00000120156 ENST00000380036 Transcript missense_variant 844/4760 402/3375 134/1124 D/E gaC/gaA 1 1 TEK HGNC HGNC:11724 protein_coding YES CCDS6519.1 ENSP00000369375 Q02763 UPI000021121E NM_000459.4 deleterious(0) benign(0.012) 3/23 PIRSF_domain:PIRSF000615,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF125 MODERATE 1 SNV 1 1 PASS ACA . . 27168532 PRKACG . GRCh38 chr9 69013231 69013231 + Missense_Mutation SNP C C T novel 7316-302 BS_8782G07F C C c.862G>A p.Gly288Arg p.G288R ENST00000377276 1/1 117 98 17 29 29 0 PRKACG,missense_variant,p.Gly288Arg,ENST00000377276,NM_002732.3;PIP5K1B,downstream_gene_variant,,ENST00000265382,NM_003558.3;PIP5K1B,downstream_gene_variant,,ENST00000541509,NM_001278253.1;PIP5K1B,downstream_gene_variant,,ENST00000478500,;,regulatory_region_variant,,ENSR00000235543,; T ENSG00000165059 ENST00000377276 Transcript missense_variant 883/1585 862/1056 288/351 G/R Ggg/Agg 1 -1 PRKACG HGNC HGNC:9382 protein_coding YES CCDS6625.1 ENSP00000366488 P22612 UPI000013E448 NM_002732.3 deleterious(0) probably_damaging(0.993) 1/1 Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF113,SMART_domains:SM00220,Superfamily_domains:SSF56112,cd14209 MODERATE SNV 1 PASS CCG . . 69013231 ZNF79 . GRCh38 chr9 127445120 127445120 + Missense_Mutation SNP G G A rs982452595 7316-302 BS_8782G07F G G c.1420G>A p.Glu474Lys p.E474K ENST00000342483 5/5 99 89 8 31 31 0 ZNF79,missense_variant,p.Glu450Lys,ENST00000543471,NM_001322260.1,NM_001286697.1;ZNF79,missense_variant,p.Glu450Lys,ENST00000612342,NM_001286696.1;ZNF79,missense_variant,p.Glu474Lys,ENST00000342483,NM_007135.2;ZNF79,missense_variant,p.Glu340Lys,ENST00000617266,NM_001286698.1;RPL12,downstream_gene_variant,,ENST00000361436,NM_000976.3;RPL12,downstream_gene_variant,,ENST00000536368,;SNORA65,downstream_gene_variant,,ENST00000364432,;RPL12,downstream_gene_variant,,ENST00000483598,;RPL12,downstream_gene_variant,,ENST00000497322,;RPL12,downstream_gene_variant,,ENST00000497825,; A ENSG00000196152 ENST00000342483 Transcript missense_variant 1826/2078 1420/1497 474/498 E/K Gaa/Aaa rs982452595,COSM3325491 1 1 ZNF79 HGNC HGNC:13153 protein_coding YES CCDS6871.1 ENSP00000362446 Q15937 UPI0000367683 NM_007135.2 tolerated(0.41) benign(0) 5/5 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF602,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 127445120 MUC5AC . GRCh38 chr11 1189355 1189355 + Missense_Mutation SNP T T C rs1445126659 7316-302 BS_8782G07F T T c.11210T>C p.Ile3737Thr p.I3737T ENST00000621226 31/49 48 32 13 39 36 2 MUC5AC,missense_variant,p.Ile3737Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 11257/17448 11210/16965 3737/5654 I/T aTc/aCc rs1445126659 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.81) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 1189355 KRTAP5-3 . GRCh38 chr11 1607718 1607718 + Missense_Mutation SNP G G C 7316-302 BS_8782G07F G G c.668C>G p.Ser223Cys p.S223C ENST00000399685 1/1 66 56 8 38 37 0 KRTAP5-3,missense_variant,p.Ser223Cys,ENST00000399685,NM_001012708.2;,regulatory_region_variant,,ENSR00000035812,; C ENSG00000196224 ENST00000399685 Transcript missense_variant 746/899 668/717 223/238 S/C tCc/tGc COSM5420578 1 -1 KRTAP5-3 HGNC HGNC:23598 protein_coding YES CCDS41591.1 ENSP00000382592 Q6L8H2 UPI000037605E NM_001012708.2 tolerated(1) benign(0) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF134,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 PASS GGA . . 1607718 OR8K3 . GRCh38 chr11 56315170 56315170 + Splice_Region DEL A A - rs67427457 7316-302 BS_8782G07F A A c.-82+15del ENST00000641662 63 44 11 41 40 0 OR8K3,splice_region_variant,,ENST00000641662,;OR8K3,splice_region_variant,,ENST00000641689,;OR8K3,upstream_gene_variant,,ENST00000623845,NM_001005202.1; - ENSG00000280314 ENST00000641662 Transcript splice_region_variant,intron_variant rs67427457 1 1 OR8K3 HGNC HGNC:15313 protein_coding YES ENSP00000493271 Q8NH51 UPI0000041BE7 1/2 0.2300 0.3812 0.1643 0.0952 0.2386 0.2025 LOW 1 deletion 12 PASS GTAA . . 56315169 NXF1 . GRCh38 chr11 62803885 62803885 + Frame_Shift_Del DEL C C - novel 7316-302 BS_8782G07F C C c.122del p.Gly41GlufsTer21 p.G41Efs*21 ENST00000532297 3/22 63 32 28 40 39 0 NXF1,frameshift_variant,p.Gly41GlufsTer21,ENST00000531709,NM_001081491.1;NXF1,frameshift_variant,p.Gly41GlufsTer21,ENST00000532297,;NXF1,frameshift_variant,p.Gly41GlufsTer21,ENST00000294172,NM_006362.4;NXF1,frameshift_variant,p.Gly84GlufsTer21,ENST00000530875,;NXF1,5_prime_UTR_variant,,ENST00000533671,;NXF1,5_prime_UTR_variant,,ENST00000531474,;NXF1,intron_variant,,ENST00000531131,;STX5,downstream_gene_variant,,ENST00000294179,NM_003164.4;STX5,downstream_gene_variant,,ENST00000377897,NM_001244666.1;STX5,downstream_gene_variant,,ENST00000394690,NM_001330294.1;AP001160.4,downstream_gene_variant,,ENST00000596971,;NXF1,intron_variant,,ENST00000526163,;NXF1,intron_variant,,ENST00000531579,;NXF1,frameshift_variant,p.Gly41GlufsTer21,ENST00000525576,;NXF1,non_coding_transcript_exon_variant,,ENST00000527064,;STX5,downstream_gene_variant,,ENST00000491231,;STX5,downstream_gene_variant,,ENST00000492066,; - ENSG00000162231 ENST00000532297 Transcript frameshift_variant 752/2795 122/1860 41/619 G/X gGa/ga 1 -1 NXF1 HGNC HGNC:8071 protein_coding YES CCDS8037.1 ENSP00000436679 Q9UBU9 UPI00000012B9 3/22 hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF27,mobidb-lite,Low_complexity_(Seg):seg HIGH deletion 5 PASS TTCC . . 62803884 SRCAP . GRCh38 chr16 30738722 30738735 + Frame_Shift_Del DEL AGTCCCTGGGCCTG AGTCCCTGGGCCTG - novel 7316-302 BS_8782G07F AGTCCCTGGGCCTG AGTCCCTGGGCCTG c.8684_8697del p.Val2895AspfsTer45 p.V2895Dfs*45 ENST00000262518 34/34 44 22 22 27 27 0 SRCAP,frameshift_variant,p.Val2895AspfsTer45,ENST00000262518,NM_006662.2;SRCAP,frameshift_variant,p.Val2636AspfsTer45,ENST00000395059,;TMEM265,upstream_gene_variant,,ENST00000615541,NM_001256829.1;AC106886.2,upstream_gene_variant,,ENST00000483578,;AC106886.5,frameshift_variant,p.Val2718AspfsTer45,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,; - ENSG00000080603 ENST00000262518 Transcript frameshift_variant 9067-9080/11754 8682-8695/9693 2894-2899/3230 PVPGPE/PX ccAGTCCCTGGGCCTGag/ccag 1 1 SRCAP HGNC HGNC:16974 protein_coding YES CCDS10689.2 ENSP00000262518 Q6ZRS2 UPI000059D368 NM_006662.2 34/34 mobidb-lite HIGH deletion 2 2 1 PASS CCAGTCCCTGGGCCTGA . . 30738721 MYH4 . GRCh38 chr17 10452032 10452032 + Missense_Mutation SNP C C T rs766999823 7316-302 BS_8782G07F C C c.3647G>A p.Arg1216Gln p.R1216Q ENST00000255381 27/40 75 66 8 29 29 0 MYH4,missense_variant,p.Arg1216Gln,ENST00000255381,NM_017533.2;AC005323.2,intron_variant,,ENST00000399342,;AC005323.2,intron_variant,,ENST00000581304,;MYHAS,intron_variant,,ENST00000587182,; T ENSG00000264424 ENST00000255381 Transcript missense_variant 3758/6016 3647/5820 1216/1939 R/Q cGg/cAg rs766999823 1 -1 MYH4 HGNC HGNC:7574 protein_coding YES CCDS11154.1 ENSP00000255381 Q9Y623 UPI000013CEAB NM_017533.2 tolerated(0.11) probably_damaging(0.997) 27/40 Gene3D:1.20.120.330,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF681 MODERATE 1 SNV 1 PASS CCG . . 8.128e-06 2.978e-05 3.249e-05 10452032 TXNDC2 . GRCh38 chr18 9886897 9886897 + Missense_Mutation SNP A A G rs866284036 7316-302 BS_8782G07F A A c.418A>G p.Lys140Glu p.K140E ENST00000306084 2/2 66 52 8 41 40 0 TXNDC2,missense_variant,p.Lys73Glu,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Lys140Glu,ENST00000611534,;TXNDC2,missense_variant,p.Lys140Glu,ENST00000306084,NM_001098529.1;TXNDC2,missense_variant,p.Lys73Glu,ENST00000536353,;TXNDC2,missense_variant,p.Lys73Glu,ENST00000584255,;TXNDC2,non_coding_transcript_exon_variant,,ENST00000426718,; G ENSG00000168454 ENST00000306084 Transcript missense_variant 617/1873 418/1662 140/553 K/E Aaa/Gaa rs866284036,COSM417786,COSM417785 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(0.21) benign(0.063) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAA . . 4.548e-05 0.000132 0.0005352 9886897 ZNF519 . GRCh38 chr18 14105545 14105545 + Missense_Mutation SNP C C G rs1267457584 7316-302 BS_8782G07F C C c.995G>C p.Gly332Ala p.G332A ENST00000590202 3/3 74 63 6 38 38 0 ZNF519,missense_variant,p.Gly332Ala,ENST00000590202,NM_145287.3;ZNF519,intron_variant,,ENST00000589498,;AC006557.3,downstream_gene_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,non_coding_transcript_exon_variant,,ENST00000624133,;ZNF519,intron_variant,,ENST00000587419,; G ENSG00000175322 ENST00000590202 Transcript missense_variant 1148/2830 995/1623 332/540 G/A gGc/gCc rs1267457584 1 -1 ZNF519 HGNC HGNC:30574 protein_coding YES CCDS32797.1 ENSP00000464872 Q8TB69 UPI0000201A41 NM_145287.3 tolerated(0.45) benign(0.007) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF97,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GCC . . 14105545 ZNF57 . GRCh38 chr19 2918027 2918027 + Missense_Mutation SNP T T C rs570880633 7316-302 BS_8782G07F T T c.1406T>C p.Met469Thr p.M469T ENST00000306908 4/4 70 57 11 38 37 1 ZNF57,missense_variant,p.Met469Thr,ENST00000306908,NM_173480.2;ZNF57,missense_variant,p.Met471Thr,ENST00000614108,;ZNF57,missense_variant,p.Met437Thr,ENST00000523428,NM_001319083.1;ZNF57,downstream_gene_variant,,ENST00000522294,;ZNF57,downstream_gene_variant,,ENST00000590305,;AC119403.1,intron_variant,,ENST00000520090,; C ENSG00000171970 ENST00000306908 Transcript missense_variant 1554/2003 1406/1668 469/555 M/T aTg/aCg rs570880633,COSM5855352 1 1 ZNF57 HGNC HGNC:13125 protein_coding YES CCDS12098.1 ENSP00000303696 Q68EA5 A5HJR3 UPI000006FE5C NM_173480.2 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF9,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0002 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 4.47e-05 2.985e-05 0.001016 2918027 PLIN4 . GRCh38 chr19 4511961 4511961 + Missense_Mutation SNP A A G rs73920827 7316-302 BS_8782G07F A A c.1957T>C p.Phe653Leu p.F653L ENST00000301286 3/6 52 44 5 36 34 0 PLIN4,missense_variant,p.Phe668Leu,ENST00000633942,;PLIN4,missense_variant,p.Phe653Leu,ENST00000301286,NM_001080400.1; G ENSG00000167676 ENST00000301286 Transcript missense_variant 1957/6353 1957/4074 653/1357 F/L Ttt/Ctt rs73920827,COSM6235415,COSM6235414 1 -1 PLIN4 HGNC HGNC:29393 protein_coding YES CCDS45927.1 ENSP00000301286 Q96Q06 UPI00001D822A NM_001080400.1 tolerated(0.09) benign(0) 3/6 Gene3D:1.20.120.20,hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF31 0.0379 0.1286 0.0144 0.003 0.003 0.0041 0.08923 0.0005972 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS AAG . . 0.01186 0.1379 0.009589 0.004037 0.001624 0.008835 0.001158 0.01222 0.004619 4511961 CAMSAP3 . GRCh38 chr19 7615695 7615695 + Nonsense_Mutation SNP C C T novel 7316-302 BS_8782G07F C C c.3169C>T p.Arg1057Ter p.R1057* ENST00000446248 15/19 38 23 13 32 32 0 CAMSAP3,stop_gained,p.Arg1057Ter,ENST00000446248,NM_001080429.2;CAMSAP3,stop_gained,p.Arg1030Ter,ENST00000160298,NM_020902.1;XAB2,downstream_gene_variant,,ENST00000358368,NM_020196.2;MIR6792,upstream_gene_variant,,ENST00000614460,;CAMSAP3,non_coding_transcript_exon_variant,,ENST00000595692,;CAMSAP3,upstream_gene_variant,,ENST00000593434,;XAB2,downstream_gene_variant,,ENST00000595288,;XAB2,downstream_gene_variant,,ENST00000600230,; T ENSG00000076826 ENST00000446248 Transcript stop_gained 3270/4179 3169/3831 1057/1276 R/* Cga/Tga 1 1 CAMSAP3 HGNC HGNC:29307 protein_coding YES CCDS45947.1 ENSP00000416797 Q9P1Y5 UPI0000161861 NM_001080429.2 15/19 hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF2 HIGH 1 SNV 1 PASS ACG . . 7615695 MUC16 . GRCh38 chr19 8937834 8937834 + Missense_Mutation SNP C C T rs1419493188 7316-302 BS_8782G07F C C c.33121G>A p.Val11041Met p.V11041M ENST00000397910 5/84 54 46 5 33 32 0 MUC16,missense_variant,p.Val11041Met,ENST00000397910,NM_024690.2; T ENSG00000181143 ENST00000397910 Transcript missense_variant 33325/43816 33121/43524 11041/14507 V/M Gtg/Atg rs1419493188 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0.015) 5/84 Low_complexity_(Seg):seg,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 MODERATE 1 SNV 5 1 PASS ACT . . 8.168e-06 3.024e-05 4.488e-05 8937834 ZNF93 . GRCh38 chr19 19934552 19934552 + Missense_Mutation SNP A A G rs376739970 7316-302 BS_8782G07F A A c.1597A>G p.Arg533Gly p.R533G ENST00000343769 4/4 56 45 8 50 47 1 ZNF93,missense_variant,p.Arg533Gly,ENST00000343769,NM_031218.3;ZNF93,missense_variant,p.Arg316Gly,ENST00000638737,;ZNF93,downstream_gene_variant,,ENST00000588146,;ZNF93,downstream_gene_variant,,ENST00000592160,;ZNF93,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,; G ENSG00000184635 ENST00000343769 Transcript missense_variant 1625/2648 1597/1863 533/620 R/G Aga/Gga rs376739970,COSM349528 1 1 ZNF93 HGNC HGNC:13169 protein_coding YES CCDS32973.1 ENSP00000342002 P35789 UPI00002263B9 NM_031218.3 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381,Gene3D:2.20.25.10,PIRSF_domain:PIRSF037162,PIRSF_domain:PIRSF037162,PIRSF_domain:PIRSF037162,Superfamily_domains:SSF57667 0.0006 0.003 0.0002279 0,1 MODERATE 1 SNV 1 0,1 PASS TAG . . 19934552 ZNF737 . GRCh38 chr19 20545047 20545047 + Missense_Mutation SNP T T C rs571830213 7316-302 BS_8782G07F T T c.1156A>G p.Thr386Ala p.T386A ENST00000427401 4/4 56 48 6 52 50 0 ZNF737,missense_variant,p.Thr386Ala,ENST00000427401,NM_001159293.1;ZNF737,downstream_gene_variant,,ENST00000594419,;ZNF737,upstream_gene_variant,,ENST00000596530,;ZNF737,downstream_gene_variant,,ENST00000597940,; C ENSG00000237440 ENST00000427401 Transcript missense_variant 1251/2867 1156/1611 386/536 T/A Aca/Gca rs571830213,COSM400553,COSM1723421 1 -1 ZNF737 HGNC HGNC:32468 protein_coding YES CCDS54238.1 ENSP00000395733 O75373 UPI0000198506 NM_001159293.1 tolerated(0.34) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0012 0.003 0.002 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GTA . . 4.087e-06 6.581e-05 20545047 ZNF626 . GRCh38 chr19 20624730 20624730 + Missense_Mutation SNP C C G 7316-302 BS_8782G07F C C c.1147G>C p.Asp383His p.D383H ENST00000601440 4/4 59 43 5 40 39 0 ZNF626,missense_variant,p.Asp383His,ENST00000601440,NM_001076675.2;ZNF626,missense_variant,p.Asp383His,ENST00000612591,;ZNF626,downstream_gene_variant,,ENST00000595405,;AC010636.2,intron_variant,,ENST00000595094,; G ENSG00000188171 ENST00000601440 Transcript missense_variant 1294/5963 1147/1587 383/528 D/H Gac/Cac COSM5883071,COSM4280362 1 -1 ZNF626 HGNC HGNC:30461 protein_coding YES CCDS42535.1 ENSP00000469958 Q68DY1 UPI000035E843 NM_001076675.2 tolerated(0.65) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF129,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 4 1,1 PASS TCT . . 20624730 ZNF429 . GRCh38 chr19 21536917 21536917 + Missense_Mutation SNP T T A rs143458227 7316-302 BS_8782G07F T T c.864T>A p.Asp288Glu p.D288E ENST00000358491 4/4 43 32 10 40 38 0 ZNF429,missense_variant,p.Asp288Glu,ENST00000358491,NM_001001415.2;ZNF429,missense_variant,p.Asp260Glu,ENST00000618549,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,; A ENSG00000197013 ENST00000358491 Transcript missense_variant 1072/2233 864/2025 288/674 D/E gaT/gaA rs143458227,COSM6281336 1 1 ZNF429 HGNC HGNC:20817 protein_coding YES CCDS42537.1 ENSP00000351280 Q86V71 UPI000022ABC2 NM_001001415.2 tolerated(1) benign(0.015) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0.0136 0.0231 0.0179 0.0348 0.002563 0.01414 0,1 MODERATE 1 SNV 3 0,1 1 PASS ATG . . 0.01885 0.001974 0.02454 0.01242 0.0004062 0.04529 0.0151 0.01846 0.02793 21536917 ZNF208 . GRCh38 chr19 21971395 21971395 + Missense_Mutation SNP T T A rs560585093 7316-302 BS_8782G07F T T c.3639A>T p.Arg1213Ser p.R1213S ENST00000397126 4/4 48 34 10 45 41 0 ZNF208,missense_variant,p.Arg1213Ser,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Arg1085Ser,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; A ENSG00000160321 ENST00000397126 Transcript missense_variant 3788/3992 3639/3843 1213/1280 R/S agA/agT rs560585093,COSM1611940,COSM1611939,COSM1611938 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(0.52) benign(0.054) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0002 0.001 0,1,1,1 MODERATE 1 SNV 3 0,1,1,1 PASS ATC . . 1.67e-05 3.017e-05 0.0001756 21971395 ZNF676 . GRCh38 chr19 22180135 22180135 + Missense_Mutation SNP T T C rs1310586551 7316-302 BS_8782G07F T T c.1582A>G p.Thr528Ala p.T528A ENST00000397121 3/3 58 45 6 47 46 0 ZNF676,missense_variant,p.Thr528Ala,ENST00000397121,NM_001001411.2;VN1R85P,upstream_gene_variant,,ENST00000601587,; C ENSG00000196109 ENST00000397121 Transcript missense_variant 1900/2944 1582/1767 528/588 T/A Act/Gct rs1310586551 1 -1 ZNF676 HGNC HGNC:20429 protein_coding YES CCDS42539.1 ENSP00000380310 Q8N7Q3 UPI00002376EC NM_001001411.2 tolerated(0.05) benign(0.001) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GTA . . 22180135 ZNF729 . GRCh38 chr19 22316199 22316199 + Missense_Mutation SNP A A G rs778968846 7316-302 BS_8782G07F A A c.2782A>G p.Ile928Val p.I928V ENST00000601693 4/4 61 53 7 48 48 0 ZNF729,missense_variant,p.Ile928Val,ENST00000601693,NM_001242680.1; G ENSG00000196350 ENST00000601693 Transcript missense_variant 2900/3877 2782/3759 928/1252 I/V Ata/Gta rs778968846,COSM6197819 1 1 ZNF729 HGNC HGNC:32464 protein_coding YES CCDS59368.1 ENSP00000469582 A6NN14 UPI000042600C NM_001242680.1 tolerated(0.16) benign(0.046) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384:SF125,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS GAT . . 2.478e-05 5.991e-05 4.562e-05 1.829e-05 3.258e-05 22316199 ZNF99 . GRCh38 chr19 22758075 22758075 + Missense_Mutation SNP G G T rs74455660 7316-302 BS_8782G07F G G c.1834C>A p.Gln612Lys p.Q612K ENST00000596209 4/4 49 38 9 36 34 1 ZNF99,missense_variant,p.Gln612Lys,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Gln521Lys,ENST00000397104,; T ENSG00000213973 ENST00000596209 Transcript missense_variant 1925/7817 1834/2595 612/864 Q/K Cag/Aag rs74455660,COSM710663,COSM5758422 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 tolerated(0.98) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0001192 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TGA . . 6.84e-05 0.00021 3.216e-05 6.4e-05 3.72e-05 0.0002449 22758075 ZNF723 . GRCh38 chr19 22857949 22857949 + Missense_Mutation SNP C C A novel 7316-302 BS_8782G07F C C c.1058C>A p.Ser353Tyr p.S353Y ENST00000600766 4/4 38 16 16 50 46 0 ZNF723,missense_variant,p.Ser353Tyr,ENST00000600766,NM_001349726.1;VN1R88P,upstream_gene_variant,,ENST00000596787,; A ENSG00000268696 ENST00000600766 Transcript missense_variant 1117/1835 1058/1542 353/513 S/Y tCc/tAc 1 1 ZNF723 HGNC HGNC:32286 protein_coding YES ENSP00000494306 P0DPD5 UPI0009ACDB03 NM_001349726.1 tolerated(0.14) benign(0.238) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV PASS TCC . . 22857949 ZNF728 . GRCh38 chr19 22976091 22976091 + Missense_Mutation SNP T T C novel 7316-302 BS_8782G07F T T c.1246A>G p.Ile416Val p.I416V ENST00000594710 4/4 62 55 6 38 38 0 ZNF728,missense_variant,p.Ile416Val,ENST00000594710,NM_001267716.1;ZNF728,downstream_gene_variant,,ENST00000599851,; C ENSG00000269067 ENST00000594710 Transcript missense_variant 1392/2015 1246/1869 416/622 I/V Ata/Gta 1 -1 ZNF728 HGNC HGNC:32463 protein_coding YES CCDS59370.1 ENSP00000471593 P0DKX0 UPI0002656E4B NM_001267716.1 tolerated(0.26) benign(0.001) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS ATC . . 22976091 ZNF91 . GRCh38 chr19 23360254 23360254 + Missense_Mutation SNP T T G rs35974857 7316-302 BS_8782G07F T T c.2725A>C p.Thr909Pro p.T909P ENST00000300619 4/4 63 52 9 44 42 0 ZNF91,missense_variant,p.Thr909Pro,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Thr877Pro,ENST00000397082,NM_001300951.1;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,; G ENSG00000167232 ENST00000300619 Transcript missense_variant 2931/5489 2725/3576 909/1191 T/P Acc/Ccc rs35974857 1 -1 ZNF91 HGNC HGNC:13166 protein_coding YES CCDS42541.1 ENSP00000300619 Q05481 UPI00002038F9 NM_003430.3 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF42,hmmpanther:PTHR24376:SF42,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GTT . . 23360254 ZNF850 . GRCh38 chr19 36749608 36749608 + Missense_Mutation SNP A A C novel 7316-302 BS_8782G07F A A c.1432T>G p.Cys478Gly p.C478G ENST00000591344 5/5 62 45 7 37 36 0 ZNF850,missense_variant,p.Cys478Gly,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Cys446Gly,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; C ENSG00000267041 ENST00000591344 Transcript missense_variant 1591/7714 1432/3273 478/1090 C/G Tgt/Ggt 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 tolerated(0.25) benign(0.086) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CAA . . 36749608 ZNF546 . GRCh38 chr19 40015273 40015273 + Missense_Mutation SNP C C A novel 7316-302 BS_8782G07F C C c.2003C>A p.Thr668Lys p.T668K ENST00000347077 7/7 56 51 5 46 46 0 ZNF546,missense_variant,p.Thr668Lys,ENST00000347077,NM_178544.4;ZNF546,missense_variant,p.Thr642Lys,ENST00000600094,NM_001297763.1;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000599504,;ZNF546,downstream_gene_variant,,ENST00000601138,; A ENSG00000187187 ENST00000347077 Transcript missense_variant 2219/7987 2003/2511 668/836 T/K aCg/aAg 1 1 ZNF546 HGNC HGNC:28671 protein_coding YES CCDS12548.1 ENSP00000339823 Q86UE3 UPI00001984E3 NM_178544.4 tolerated(1) benign(0) 7/7 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ACG . . 40015273 ZNF575 . GRCh38 chr19 43535281 43535281 + Missense_Mutation SNP T T A novel 7316-302 BS_8782G07F T T c.332T>A p.Leu111His p.L111H ENST00000314228 4/4 46 34 6 39 36 0 ZNF575,missense_variant,p.Leu210His,ENST00000458714,;ZNF575,missense_variant,p.Leu111His,ENST00000314228,NM_174945.2;ZNF575,missense_variant,p.Leu111His,ENST00000601282,;ZNF575,downstream_gene_variant,,ENST00000598080,;ZNF575,downstream_gene_variant,,ENST00000600154,; A ENSG00000176472 ENST00000314228 Transcript missense_variant 844/1298 332/738 111/245 L/H cTc/cAc 1 1 ZNF575 HGNC HGNC:27606 protein_coding YES CCDS12623.1 ENSP00000315870 Q86XF7 A0A024R0U0 UPI000000DA6E NM_174945.2 tolerated(0.12) benign(0.243) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR45549,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CTC . . 43535281 SRRM5 . GRCh38 chr19 43613827 43613827 + Missense_Mutation SNP G G A rs375504378 7316-302 BS_8782G07F G G c.1706G>A p.Arg569His p.R569H ENST00000607544 3/3 45 38 5 39 38 0 SRRM5,missense_variant,p.Arg569His,ENST00000607544,;SRRM5,missense_variant,p.Arg569His,ENST00000417606,NM_001145641.1;ZNF428,intron_variant,,ENST00000300811,NM_182498.3;ZNF428,intron_variant,,ENST00000598676,;ZNF428,downstream_gene_variant,,ENST00000595304,; A ENSG00000226763 ENST00000607544 Transcript missense_variant 2028/2698 1706/2148 569/715 R/H cGc/cAc rs375504378 1 1 SRRM5 HGNC HGNC:37248 protein_coding YES CCDS46095.1 ENSP00000476253 B3KS81 UPI000059D73E tolerated(0.44) benign(0) 3/3 hmmpanther:PTHR39414,mobidb-lite MODERATE SNV 2 PASS CGC . . 6.057e-05 0.0002938 0.0002619 0.0002192 43613827 ZNF225 . GRCh38 chr19 44132181 44132181 + Missense_Mutation SNP C C G rs1342037704 7316-302 BS_8782G07F C C c.1567C>G p.Gln523Glu p.Q523E ENST00000262894 5/5 68 56 6 36 36 0 ZNF225,missense_variant,p.Gln523Glu,ENST00000262894,NM_001321685.1,NM_013362.3;ZNF225,missense_variant,p.Gln523Glu,ENST00000590612,;ZNF225,3_prime_UTR_variant,,ENST00000592780,;ZNF225,downstream_gene_variant,,ENST00000589155,;ZNF225,downstream_gene_variant,,ENST00000592360,; G ENSG00000256294 ENST00000262894 Transcript missense_variant 1847/4482 1567/2121 523/706 Q/E Cag/Gag rs1342037704 1 1 ZNF225 HGNC HGNC:13018 protein_coding YES CCDS46100.1 ENSP00000262894 Q9UK10 UPI000016960F NM_001321685.1,NM_013362.3 tolerated(0.05) benign(0.153) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF44,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TCA . . 44132181 RSPH6A . GRCh38 chr19 45795889 45795891 + In_Frame_Del DEL CCT CCT - rs755321677 7316-302 BS_8782G07F CCT CCT c.2132_2134del p.Glu711del p.E711del ENST00000221538 6/6 71 61 5 26 24 0 RSPH6A,inframe_deletion,p.Glu711del,ENST00000221538,NM_030785.3;RSPH6A,inframe_deletion,p.Glu447del,ENST00000600188,;RSPH6A,3_prime_UTR_variant,,ENST00000597055,;DMWD,upstream_gene_variant,,ENST00000270223,NM_004943.1;DMWD,upstream_gene_variant,,ENST00000377735,;DMWD,upstream_gene_variant,,ENST00000597053,;DMWD,upstream_gene_variant,,ENST00000598237,;DMWD,upstream_gene_variant,,ENST00000601370,; - ENSG00000104941 ENST00000221538 Transcript inframe_deletion 2275-2277/2456 2132-2134/2154 711-712/717 EG/G gAGGgc/ggc rs755321677,COSM5089426 1 -1 RSPH6A HGNC HGNC:14241 protein_coding YES CCDS12675.1 ENSP00000221538 Q9H0K4 UPI0000037C58 NM_030785.3 6/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13159,hmmpanther:PTHR13159:SF1 0,1 MODERATE 1 deletion 1 0,1 PASS GCCCTC . . 0.006864 0.002057 0.00689 0.01461 0.001815 0.008389 0.006046 0.006691 0.013 45795888 CD33 . GRCh38 chr19 51225221 51225221 + Missense_Mutation SNP C T T rs12459419 7316-302 BS_8782G07F C C c.41C>T p.Ala14Val p.A14V ENST00000262262 2/7 76 3 72 30 23 6 CD33,missense_variant,p.Ala14Val,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Ala14Val,ENST00000391796,NM_001177608.1;CD33,intron_variant,,ENST00000421133,NM_001082618.1;CD33,intron_variant,,ENST00000436584,;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;CD33,upstream_gene_variant,,ENST00000598473,;,regulatory_region_variant,,ENSR00000111154,; T ENSG00000105383 ENST00000262262 Transcript missense_variant 62/1444 41/1095 14/364 A/V gCc/gTc rs12459419,CS138307,COSM5828919,COSM3757092 1 1 CD33 HGNC HGNC:1659 protein_coding YES CCDS33084.1 ENSP00000262262 P20138 Q546G0 UPI000013D285 NM_001772.3 deleterious(0.03) benign(0.109) 2/7 Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52,Cleavage_site_(Signalp):SignalP-noTM 0.2107 0.0514 0.4841 0.1855 0.3101 0.1554 0.09328 0.3006 0,0,1,1 26621708,26680604,23444229,26438529,24381305,25762156,26442696,23946390,27346689,23747885,28129359,29466292 MODERATE 1 SNV 1 1,1,1,1 PASS GCC . . 0.3081 0.07761 0.5631 0.2212 0.1844 0.3676 0.32 0.3027 0.1565 51225221 ZNF836 . GRCh38 chr19 52155971 52155971 + Missense_Mutation SNP A A T rs1480782557 7316-302 BS_8782G07F A A c.1712T>A p.Ile571Asn p.I571N ENST00000597252 5/5 60 53 6 48 48 0 ZNF836,missense_variant,p.Ile571Asn,ENST00000597252,NM_001102657.1;ZNF836,missense_variant,p.Ile571Asn,ENST00000322146,;ZNF836,downstream_gene_variant,,ENST00000596428,;ZNF836,downstream_gene_variant,,ENST00000597065,;AC011468.2,intron_variant,,ENST00000594362,;AC011468.2,intron_variant,,ENST00000598982,;ZNF836,upstream_gene_variant,,ENST00000599618,; T ENSG00000196267 ENST00000597252 Transcript missense_variant 2086/3209 1712/2811 571/936 I/N aTt/aAt rs1480782557,COSM5856567,COSM5856566 1 -1 ZNF836 HGNC HGNC:34333 protein_coding YES CCDS46162.1 ENSP00000470239 Q6ZNA1 UPI00001D818C NM_001102657.1 tolerated(0.58) benign(0.184) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS AAT . . 52155971 ZNF836 . GRCh38 chr19 52155990 52155990 + Missense_Mutation SNP A A C rs550181206 7316-302 BS_8782G07F A A c.1693T>G p.Tyr565Asp p.Y565D ENST00000597252 5/5 64 54 10 48 47 1 ZNF836,missense_variant,p.Tyr565Asp,ENST00000597252,NM_001102657.1;ZNF836,missense_variant,p.Tyr565Asp,ENST00000322146,;ZNF836,downstream_gene_variant,,ENST00000596428,;ZNF836,downstream_gene_variant,,ENST00000597065,;AC011468.2,intron_variant,,ENST00000594362,;AC011468.2,intron_variant,,ENST00000598982,;ZNF836,upstream_gene_variant,,ENST00000599618,; C ENSG00000196267 ENST00000597252 Transcript missense_variant 2067/3209 1693/2811 565/936 Y/D Tac/Gac rs550181206,COSM4745141,COSM4745140 1 -1 ZNF836 HGNC HGNC:34333 protein_coding YES CCDS46162.1 ENSP00000470239 Q6ZNA1 UPI00001D818C NM_001102657.1 tolerated(0.23) benign(0.007) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0002 0.0014 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TAA . . 2.033e-05 0.0001491 52155990 ZNF534 . GRCh38 chr19 52439225 52439225 + Missense_Mutation SNP C C T rs756379445 7316-302 BS_8782G07F C C c.1804C>T p.Arg602Trp p.R602W ENST00000332323 4/4 59 33 22 42 40 0 ZNF534,missense_variant,p.Arg602Trp,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Arg589Trp,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1; T ENSG00000198633 ENST00000332323 Transcript missense_variant 1865/2086 1804/2025 602/674 R/W Cgg/Tgg rs756379445,COSM2927513 1 1 ZNF534 HGNC HGNC:26337 protein_coding YES CCDS46165.1 ENSP00000327538 Q76KX8 UPI0000351984 NM_001143939.1 tolerated(0.24) possibly_damaging(0.836) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF187,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS TCG . . 6.357e-05 8.222e-05 0.0001388 7.351e-05 7.869e-05 52439225 ZNF665 . GRCh38 chr19 53164946 53164946 + Missense_Mutation SNP T T C rs1285598951 7316-302 BS_8782G07F T T c.1544A>G p.Lys515Arg p.K515R ENST00000396424 4/4 77 69 8 40 39 0 ZNF665,missense_variant,p.Lys515Arg,ENST00000396424,NM_024733.3;ZNF665,missense_variant,p.Lys450Arg,ENST00000600412,;AC092070.1,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,; C ENSG00000197497 ENST00000396424 Transcript missense_variant 1634/4159 1544/2037 515/678 K/R aAg/aGg rs1285598951 1 -1 ZNF665 HGNC HGNC:25885 protein_coding YES CCDS46169.1 ENSP00000379702 Q9H7R5 UPI000059D78D NM_024733.3 tolerated(0.06) possibly_damaging(0.578) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF609,hmmpanther:PTHR24377,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CTT . . 53164946 ZNF765 . GRCh38 chr19 53408947 53408947 + Missense_Mutation SNP T T A rs1414287714 7316-302 BS_8782G07F T T c.1392T>A p.Asn464Lys p.N464K ENST00000396408 4/4 56 47 6 41 41 0 ZNF765,missense_variant,p.Asn464Lys,ENST00000396408,NM_001040185.1,NM_001350495.1;ZNF765,intron_variant,,ENST00000594030,;ZNF765,downstream_gene_variant,,ENST00000505866,;ZNF765,intron_variant,,ENST00000504146,;ZNF765,intron_variant,,ENST00000504235,;ZNF765,intron_variant,,ENST00000507045,;RPL39P36,upstream_gene_variant,,ENST00000490784,; A ENSG00000196417 ENST00000396408 Transcript missense_variant 1509/4569 1392/1572 464/523 N/K aaT/aaA rs1414287714,COSM6336432 1 1 ZNF765 HGNC HGNC:25092 protein_coding YES CCDS46171.1 ENSP00000379689 Q7L2R6 UPI000040C508 NM_001040185.1,NM_001350495.1 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ATC . . 53408947 ZNF331 . GRCh38 chr19 53577357 53577357 + Missense_Mutation SNP G G C novel 7316-302 BS_8782G07F G G c.797G>C p.Ser266Thr p.S266T ENST00000253144 7/7 63 55 8 27 27 0 ZNF331,missense_variant,p.Ser266Thr,ENST00000253144,NM_018555.5,NM_001317120.1;ZNF331,missense_variant,p.Ser266Thr,ENST00000449416,;ZNF331,missense_variant,p.Ser266Thr,ENST00000411977,NM_001253799.1,NM_001253798.1,NM_001079906.1,NM_001317115.1,NM_001317114.1;ZNF331,missense_variant,p.Ser266Thr,ENST00000512387,NM_001317119.1,NM_001317121.1,NM_001317118.1,NM_001317116.1,NM_001253801.2,NM_001317117.1;ZNF331,missense_variant,p.Ser266Thr,ENST00000511154,NM_001317113.1;ZNF331,missense_variant,p.Ser266Thr,ENST00000511593,NM_001079907.1;ZNF331,missense_variant,p.Ser266Thr,ENST00000513999,NM_001253800.1;ZNF331,intron_variant,,ENST00000513265,;ZNF331,downstream_gene_variant,,ENST00000502248,;ZNF331,downstream_gene_variant,,ENST00000502616,;ZNF331,downstream_gene_variant,,ENST00000504493,;ZNF331,downstream_gene_variant,,ENST00000505426,;ZNF331,downstream_gene_variant,,ENST00000505949,;ZNF331,downstream_gene_variant,,ENST00000509047,;ZNF331,downstream_gene_variant,,ENST00000509585,;ZNF331,downstream_gene_variant,,ENST00000511567,;ZNF331,downstream_gene_variant,,ENST00000514022,;ZNF331,downstream_gene_variant,,ENST00000514374,; C ENSG00000130844 ENST00000253144 Transcript missense_variant 2130/5042 797/1392 266/463 S/T aGt/aCt 1 1 ZNF331 HGNC HGNC:15489 protein_coding YES CCDS33102.1 ENSP00000253144 Q9NQX6 A0A024R4J5 UPI0000039DC3 NM_018555.5,NM_001317120.1 tolerated(1) benign(0.033) 7/7 Gene3D:2.30.30.380,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF13,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 1 PASS AGT . . 53577357 LILRB1 . GRCh38 chr19 54631591 54631591 + Missense_Mutation SNP G G T novel 7316-302 BS_8782G07F G G c.162G>T p.Glu54Asp p.E54D ENST00000324602 4/15 93 44 24 54 37 0 LILRB1,missense_variant,p.Glu54Asp,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Glu54Asp,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Glu54Asp,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Glu54Asp,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Glu90Asp,ENST00000427581,;LILRB1,missense_variant,p.Glu54Asp,ENST00000396315,;LILRB1,missense_variant,p.Glu54Asp,ENST00000396317,NM_001278398.2;LILRB1-AS1,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,missense_variant,p.Glu54Asp,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;,regulatory_region_variant,,ENSR00000111540,; T ENSG00000104972 ENST00000324602 Transcript missense_variant 327/2774 162/1959 54/652 E/D gaG/gaT 1 1 LILRB1 HGNC HGNC:6605 protein_coding YES CCDS42614.1 ENSP00000315997 A0A087WSV6 UPI00034F23AA NM_001081637.2 tolerated(0.27) benign(0.037) 4/15 Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05751 MODERATE SNV 5 PASS AGA . . 54631591 ZSCAN5B . GRCh38 chr19 56193030 56193030 + Missense_Mutation SNP G A A rs61745809 7316-302 BS_8782G07F G G c.23C>T p.Ser8Leu p.S8L ENST00000586855 2/5 60 9 51 35 26 8 ZSCAN5B,missense_variant,p.Ser8Leu,ENST00000586855,;ZSCAN5B,missense_variant,p.Ser8Leu,ENST00000358992,NM_001080456.2;ZSCAN5B,missense_variant,p.Ser8Leu,ENST00000589938,;ZSCAN5B,missense_variant,p.Ser8Leu,ENST00000587032,; A ENSG00000197213 ENST00000586855 Transcript missense_variant 337/2059 23/1488 8/495 S/L tCa/tTa rs61745809,COSM5427295,COSM148770 1 -1 ZSCAN5B HGNC HGNC:34246 protein_coding YES CCDS46203.1 ENSP00000466072 A6NJL1 UPI000059D7BA tolerated(0.36) benign(0.343) 2/5 hmmpanther:PTHR44454,hmmpanther:PTHR44454:SF4,mobidb-lite 0.0833 0.0068 0.1599 0.249 0.0358 0.0102 0.01012 0.02608 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TGA . . 0.06975 0.006483 0.1985 0.04959 0.2492 0.07963 0.02441 0.06261 0.01425 56193030 ZNF530 . GRCh38 chr19 57606748 57606748 + Missense_Mutation SNP T T A rs1444873326 7316-302 BS_8782G07F T T c.1223T>A p.Val408Glu p.V408E ENST00000332854 3/3 68 55 10 46 45 1 ZNF530,missense_variant,p.Val408Glu,ENST00000332854,NM_020880.4;ZNF530,intron_variant,,ENST00000597864,;ZNF530,downstream_gene_variant,,ENST00000597700,NM_001321981.1;ZNF530,missense_variant,p.Val408Glu,ENST00000600619,;ZNF530,non_coding_transcript_exon_variant,,ENST00000598297,; A ENSG00000183647 ENST00000332854 Transcript missense_variant 1443/2962 1223/1800 408/599 V/E gTg/gAg rs1444873326 1 1 ZNF530 HGNC HGNC:29297 protein_coding YES CCDS12955.1 ENSP00000332861 Q6P9A1 UPI0000199017 NM_020880.4 tolerated(1) benign(0) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF616,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GTG . . 57606748 SEMG2 . GRCh38 chr20 45222827 45222827 + Missense_Mutation SNP T T C rs879053121 7316-302 BS_8782G07F T T c.1195T>C p.Tyr399His p.Y399H ENST00000372769 2/3 50 40 9 39 36 1 SEMG2,missense_variant,p.Tyr399His,ENST00000372769,NM_003008.2; C ENSG00000124157 ENST00000372769 Transcript missense_variant 1285/2051 1195/1749 399/582 Y/H Tat/Cat rs879053121 1 1 SEMG2 HGNC HGNC:10743 protein_coding YES CCDS13346.1 ENSP00000361855 Q02383 UPI0000135845 NM_003008.2 tolerated(1) benign(0) 2/3 Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4,mobidb-lite MODERATE 1 SNV 1 PASS GTA . . 45222827 SON . GRCh38 chr21 33551779 33551779 + Missense_Mutation SNP A A T novel 7316-302 BS_8782G07F A A c.2548A>T p.Thr850Ser p.T850S ENST00000356577 3/12 85 76 7 39 39 0 SON,missense_variant,p.Thr850Ser,ENST00000356577,NM_138927.2;SON,missense_variant,p.Thr850Ser,ENST00000381679,NM_001291411.1;SON,missense_variant,p.Thr850Ser,ENST00000300278,NM_032195.2;SON,intron_variant,,ENST00000381692,NM_001291412.1;SON,upstream_gene_variant,,ENST00000421541,;SON,upstream_gene_variant,,ENST00000436227,;MIR6501,downstream_gene_variant,,ENST00000290239,;SON,downstream_gene_variant,,ENST00000492229,;SON,missense_variant,p.Thr850Ser,ENST00000455528,; T ENSG00000159140 ENST00000356577 Transcript missense_variant 3023/8813 2548/7281 850/2426 T/S Acc/Tcc 1 1 SON HGNC HGNC:11183 protein_coding YES CCDS13629.1 ENSP00000348984 P18583 UPI0000140BFD NM_138927.2 tolerated_low_confidence(0.95) benign(0.026) 3/12 Superfamily_domains:SSF50978 MODERATE 1 SNV 1 1 PASS CAC . . 33551779 PCNT . GRCh38 chr21 46334596 46334596 + Missense_Mutation SNP A A G rs61735825 7316-302 BS_8782G07F A A c.467A>G p.His156Arg p.H156R ENST00000359568 3/47 74 54 16 45 43 1 PCNT,missense_variant,p.His156Arg,ENST00000359568,NM_001315529.1,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,non_coding_transcript_exon_variant,,ENST00000490468,; G ENSG00000160299 ENST00000359568 Transcript missense_variant 574/10560 467/10011 156/3336 H/R cAt/cGt rs61735825 1 1 PCNT HGNC HGNC:16068 protein_coding YES CCDS33592.1 ENSP00000352572 O95613 UPI00001AEB88 NM_001315529.1,NM_006031.5 tolerated_low_confidence(0.36) benign(0) 3/47 0.0174 0.0144 0.0231 0.0487 0.0031 0.007263 0.03698 benign,likely_benign 18414213 MODERATE 1 SNV 1 1 1 PASS CAT . . 0.0014 0.0008118 0.0004957 0.0009482 0.0001743 0.0007886 0.002505 0.001345 0.0001966 46334596 SLC35E4 . GRCh38 chr22 30646924 30646924 + Missense_Mutation SNP G G A rs372345536 7316-302 BS_8782G07F G G c.946G>A p.Ala316Thr p.A316T ENST00000343605 2/2 75 48 25 27 27 0 SLC35E4,missense_variant,p.Ala316Thr,ENST00000343605,NM_001001479.3;SLC35E4,intron_variant,,ENST00000406566,NM_001318370.1;SLC35E4,intron_variant,,ENST00000451479,NM_001318371.1; A ENSG00000100036 ENST00000343605 Transcript missense_variant 1745/2714 946/1053 316/350 A/T Gca/Aca rs372345536,COSM271530 1 1 SLC35E4 HGNC HGNC:17058 protein_coding YES CCDS13882.1 ENSP00000339626 Q6ICL7 UPI0000198650 NM_001001479.3 tolerated(0.09) benign(0.005) 2/2 Pfam_domain:PF03151,hmmpanther:PTHR44879,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0.0001163 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 1.63e-05 0.000116 1.802e-05 30646924 CXorf36 . GRCh38 chrX 45191866 45191866 + Missense_Mutation SNP C T T rs1132201 7316-302 BS_8782G07F C C c.383G>A p.Arg128Lys p.R128K ENST00000398000 2/5 30 0 29 27 23 4 CXorf36,missense_variant,p.Arg128Lys,ENST00000398000,NM_176819.3;CXorf36,missense_variant,p.Arg128Lys,ENST00000377934,NM_024689.2;AC136489.1,intron_variant,,ENST00000438181,;AC136489.1,intron_variant,,ENST00000450527,;CXorf36,non_coding_transcript_exon_variant,,ENST00000477281,;CXorf36,non_coding_transcript_exon_variant,,ENST00000492138,;,regulatory_region_variant,,ENSR00000246218,; T ENSG00000147113 ENST00000398000 Transcript missense_variant 458/4655 383/1302 128/433 R/K aGa/aAa rs1132201,COSM3759500,COSM3759499 1 -1 CXorf36 HGNC HGNC:25866 protein_coding YES CCDS48096.1 ENSP00000381086 Q9H7Y0 UPI000059DAFE NM_176819.3 tolerated(0.61) benign(0.011) 2/5 blastprodom:PD307452,hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF8 0.4395 0.1745 0.5 0.7552 0.3316 0.5446 0.2018 0.3248 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TCT . . 0.4217 0.1997 0.5975 0.417 0.7395 0.3949 0.3273 0.4174 0.5265 45191866 GCNA . GRCh38 chrX 71603732 71603732 + Missense_Mutation SNP A A G rs1347336481 7316-302 BS_8782G07F A A c.455A>G p.Asn152Ser p.N152S ENST00000373695 7/12 62 55 6 35 35 0 GCNA,missense_variant,p.Asn152Ser,ENST00000373695,;GCNA,missense_variant,p.Asn152Ser,ENST00000373696,NM_052957.4; G ENSG00000147174 ENST00000373695 Transcript missense_variant 992/3213 455/2076 152/691 N/S aAc/aGc rs1347336481 1 1 GCNA HGNC HGNC:15805 protein_coding YES CCDS35326.1 ENSP00000362799 Q96QF7 UPI0000072023 tolerated_low_confidence(0.07) benign(0.003) 7/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23099 MODERATE 1 SNV 1 PASS AAC . . 71603732 GCNA . GRCh38 chrX 71604160 71604160 + Missense_Mutation SNP T T C rs761086272 7316-302 BS_8782G07F T T c.883T>C p.Ser295Pro p.S295P ENST00000373695 7/12 38 25 11 31 31 0 GCNA,missense_variant,p.Ser295Pro,ENST00000373695,;GCNA,missense_variant,p.Ser295Pro,ENST00000373696,NM_052957.4;GCNA,upstream_gene_variant,,ENST00000471950,; C ENSG00000147174 ENST00000373695 Transcript missense_variant 1420/3213 883/2076 295/691 S/P Tcc/Ccc rs761086272,COSM1570044 1 1 GCNA HGNC HGNC:15805 protein_coding YES CCDS35326.1 ENSP00000362799 Q96QF7 UPI0000072023 tolerated_low_confidence(0.42) benign(0) 7/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23099 0,1 MODERATE 1 SNV 1 0,1 PASS TTC . . 0.0002763 0.0008498 0.0002931 0.0002852 8.598e-05 0.0003071 0.0005237 5.704e-05 71604160 TRPC5 . GRCh38 chrX 111912527 111912527 + Missense_Mutation SNP G G A 7316-302 BS_8782G07F G G c.664C>T p.Arg222Cys p.R222C ENST00000262839 3/11 52 43 8 42 42 0 TRPC5,missense_variant,p.Arg222Cys,ENST00000262839,NM_012471.2; A ENSG00000072315 ENST00000262839 Transcript missense_variant 1583/5839 664/2922 222/973 R/C Cgt/Tgt COSM1715429 1 -1 TRPC5 HGNC HGNC:12337 protein_coding YES CCDS14561.1 ENSP00000262839 Q9UL62 UPI00001374B6 NM_012471.2 deleterious(0) probably_damaging(0.973) 3/11 hmmpanther:PTHR10117:SF24,hmmpanther:PTHR10117,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,Pfam_domain:PF08344 1 MODERATE 1 SNV 1 1 PASS CGG . . 111912527 TEX13C . GRCh38 chrX 125321975 125321975 + Missense_Mutation SNP A A G rs3135236 7316-302 BS_8782G07F A A c.1856A>G p.Asp619Gly p.D619G ENST00000632600 1/1 37 21 14 30 26 1 TEX13C,missense_variant,p.Asp619Gly,ENST00000632600,NM_001195272.1;AL627231.1,downstream_gene_variant,,ENST00000394467,; G ENSG00000282815 ENST00000632600 Transcript missense_variant 1856/5095 1856/2982 619/993 D/G gAc/gGc rs3135236,COSM6285663 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(1) benign(0) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28 0,1 MODERATE 1 SNV 0,1 PASS GAC . . 9.219e-05 0.0002437 0.0001561 2.881e-05 0.0001571 125321975 TEX13C . GRCh38 chrX 125322774 125322774 + Missense_Mutation SNP T T G rs1470555305 7316-302 BS_8782G07F T T c.2655T>G p.Ile885Met p.I885M ENST00000632600 1/1 52 43 7 28 27 0 TEX13C,missense_variant,p.Ile885Met,ENST00000632600,NM_001195272.1;,regulatory_region_variant,,ENSR00000343318,;AL627231.1,downstream_gene_variant,,ENST00000394467,; G ENSG00000282815 ENST00000632600 Transcript missense_variant 2655/5095 2655/2982 885/993 I/M atT/atG rs1470555305 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.19) probably_damaging(0.969) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28 MODERATE 1 SNV PASS TTC . . 125322774 CCDC30 . GRCh38 chr1 42536529 42536530 + Frame_Shift_Del DEL AG AG - rs372826618 7316-109 BS_F42WG7E7 AG AG c.60_61del p.Lys21AlafsTer7 p.K21Afs*7 ENST00000342022 2/16 70 61 5 17 15 0 CCDC30,frameshift_variant,p.Lys177AlafsTer7,ENST00000340612,;CCDC30,frameshift_variant,p.Lys21AlafsTer7,ENST00000342022,NM_001080850.2;CCDC30,frameshift_variant,p.Lys21AlafsTer7,ENST00000428554,;CCDC30,non_coding_transcript_exon_variant,,ENST00000471390,;CCDC30,5_prime_UTR_variant,,ENST00000477155,NM_001355224.1;CCDC30,3_prime_UTR_variant,,ENST00000509712,;CCDC30,non_coding_transcript_exon_variant,,ENST00000495044,;CCDC30,intron_variant,,ENST00000507855,;CCDC30,upstream_gene_variant,,ENST00000514642,; - ENSG00000186409 ENST00000342022 Transcript frameshift_variant 155-156/3098 45-46/2352 15-16/783 KE/KX aaAGag/aaag rs372826618,COSM4765196,COSM391243 1 1 CCDC30 HGNC HGNC:26103 protein_coding YES CCDS30690.1 ENSP00000339280 Q5VVM6 UPI0000458A0B NM_001080850.2 2/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34479 0,1,1 HIGH 1 deletion 5 15 0,1,1 PASS AAAGA . . 0.04966 0.04516 0.08702 0.0634 0.07094 0.01823 0.03814 0.0696 0.07778 42536528 AMY2B . GRCh38 chr1 103575466 103575466 + Missense_Mutation SNP A A G novel 7316-109 BS_F42WG7E7 A A c.1027A>G p.Met343Val p.M343V ENST00000361355 9/12 50 42 6 26 25 0 AMY2B,missense_variant,p.Met343Val,ENST00000361355,NM_020978.4;AMY2B,missense_variant,p.Met343Val,ENST00000610648,;AMY2B,downstream_gene_variant,,ENST00000435302,;AMY2B,downstream_gene_variant,,ENST00000453959,;AMY2B,non_coding_transcript_exon_variant,,ENST00000491397,;AMY2B,non_coding_transcript_exon_variant,,ENST00000462971,;AMY2B,upstream_gene_variant,,ENST00000481821,;AMY2B,missense_variant,p.Met343Val,ENST00000477657,;ACTG1P4,downstream_gene_variant,,ENST00000425123,; G ENSG00000240038 ENST00000361355 Transcript missense_variant 1643/2181 1027/1536 343/511 M/V Atg/Gtg 1 1 AMY2B HGNC HGNC:478 protein_coding YES CCDS782.1 ENSP00000354610 P19961 UPI0000000CB1 NM_020978.4 deleterious(0.01) probably_damaging(0.971) 9/12 Gene3D:3.20.20.80,hmmpanther:PTHR43447,hmmpanther:PTHR43447:SF3,SMART_domains:SM00642,Superfamily_domains:SSF51445,cd11317 MODERATE 1 SNV 1 PASS TAT . . 103575466 TCHH . GRCh38 chr1 152111787 152111787 + Missense_Mutation SNP T T C rs1335829902 7316-109 BS_F42WG7E7 T T c.1430A>G p.Lys477Arg p.K477R ENST00000614923 3/3 63 46 7 24 20 0 TCHH,missense_variant,p.Lys477Arg,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Lys477Arg,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; C ENSG00000159450 ENST00000614923 Transcript missense_variant 1525/6995 1430/5832 477/1943 K/R aAg/aGg rs1335829902 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 benign(0.001) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,Gene3D:1.10.238.10 MODERATE 1 SNV 5 1 PASS CTT . . 152111787 IVL . GRCh38 chr1 152910987 152910987 + Missense_Mutation SNP T T A rs200245608 7316-109 BS_F42WG7E7 T T c.1190T>A p.Val397Glu p.V397E ENST00000368764 2/2 74 58 12 28 27 0 IVL,missense_variant,p.Val397Glu,ENST00000368764,NM_005547.2; A ENSG00000163207 ENST00000368764 Transcript missense_variant 1254/2153 1190/1758 397/585 V/E gTg/gAg rs200245608,COSM4142713 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated_low_confidence(1) benign(0) 2/2 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00904,mobidb-lite 0,1 MODERATE 1 SNV 2 0,1 PASS GTG . . 0.0001481 0.0002578 0.0002738 0.0008951 6.468e-05 0.0001676 152910987 SEC16B . GRCh38 chr1 177965155 177965155 + Missense_Mutation SNP C C T rs745630073 7316-109 BS_F42WG7E7 C C c.425G>A p.Arg142Gln p.R142Q ENST00000308284 4/26 72 55 16 30 29 0 SEC16B,missense_variant,p.Arg142Gln,ENST00000308284,NM_033127.2;SEC16B,missense_variant,p.Arg142Gln,ENST00000464631,NM_001356499.1;CRYZL2P-SEC16B,non_coding_transcript_exon_variant,,ENST00000354921,;SEC16B,missense_variant,p.Arg142Gln,ENST00000528461,;CRYZL2P-SEC16B,non_coding_transcript_exon_variant,,ENST00000466953,;CRYZL2P-SEC16B,non_coding_transcript_exon_variant,,ENST00000464428,; T ENSG00000120341 ENST00000308284 Transcript missense_variant 515/3985 425/3183 142/1060 R/Q cGg/cAg rs745630073 1 -1 SEC16B HGNC HGNC:30301 protein_coding YES CCDS44281.1 ENSP00000308339 Q96JE7 UPI0000203C4D NM_033127.2 tolerated(0.09) benign(0.024) 4/26 hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF11 MODERATE 1 SNV 1 PASS CCG . . 8.161e-06 8.988e-06 3.272e-05 177965155 GREB1 . GRCh38 chr2 11585821 11585821 + Missense_Mutation SNP T C C rs35188552 7316-109 BS_F42WG7E7 T T c.1075T>C p.Phe359Leu p.F359L ENST00000381486 9/33 42 1 41 23 17 6 GREB1,missense_variant,p.Phe359Leu,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Phe359Leu,ENST00000234142,;GREB1,missense_variant,p.Phe359Leu,ENST00000263834,NM_148903.2;GREB1,missense_variant,p.Phe359Leu,ENST00000381483,NM_033090.2;GREB1,downstream_gene_variant,,ENST00000389825,;GREB1,upstream_gene_variant,,ENST00000432985,;RN7SL674P,downstream_gene_variant,,ENST00000463397,; C ENSG00000196208 ENST00000381486 Transcript missense_variant 1375/8484 1075/5850 359/1949 F/L Ttt/Ctt rs35188552,COSM3766499,COSM3766498,COSM3766497 1 1 GREB1 HGNC HGNC:24885 protein_coding YES CCDS42655.1 ENSP00000370896 Q4ZG55 UPI0000163937 NM_014668.3 tolerated(0.66) benign(0.003) 9/33 Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13 0.0940 0.18 0.0735 0.1312 0.0511 0.1537 0.1429 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS CTT . . 0.113 0.1581 0.06149 0.1528 0.0005798 0.1137 0.1456 0.1259 0.07619 11585821 LCLAT1 . GRCh38 chr2 30640242 30640242 + Missense_Mutation SNP A G G rs12471868 7316-109 BS_F42WG7E7 A A c.868A>G p.Ile290Val p.I290V ENST00000309052 7/7 70 0 67 27 21 5 LCLAT1,missense_variant,p.Ile290Val,ENST00000309052,NM_182551.4;LCLAT1,missense_variant,p.Ile252Val,ENST00000379509,NM_001304445.1,NM_001002257.2,NM_001304446.1;LCLAT1,non_coding_transcript_exon_variant,,ENST00000491680,;LCLAT1,3_prime_UTR_variant,,ENST00000478015,; G ENSG00000172954 ENST00000309052 Transcript missense_variant 1077/5060 868/1245 290/414 I/V Ata/Gta rs12471868,COSM3758204 1 1 LCLAT1 HGNC HGNC:26756 protein_coding YES CCDS1772.1 ENSP00000310551 Q6UWP7 UPI00000389F6 NM_182551.4 tolerated(0.94) benign(0) 7/7 hmmpanther:PTHR10983:SF16,hmmpanther:PTHR10983,Pfam_domain:PF16076 0.1685 0.0923 0.2205 0.2232 0.1183 0.2301 0.08511 0.1337 0,1 MODERATE 1 SNV 1 0,1 PASS AAT . . 0.1619 0.08347 0.2718 0.09 0.2235 0.1066 0.1284 0.1397 0.2353 30640242 IGKV5-2 . GRCh38 chr2 88897674 88897674 + Missense_Mutation SNP C T T rs55661410 7316-109 BS_F42WG7E7 C C c.235C>T p.Pro79Ser p.P79S ENST00000390244 2/2 65 1 62 22 18 4 IGKV5-2,missense_variant,p.Pro79Ser,ENST00000390244,; T ENSG00000211599 ENST00000390244 Transcript missense_variant 298/408 235/345 79/115 P/S Cca/Tca rs55661410 1 1 IGKV5-2 HGNC HGNC:5835 IG_V_gene YES ENSP00000374779 P06315 UPI000012E167 deleterious(0.03) probably_damaging(0.975) 2/2 0.3311 0.2247 0.3314 0.503 0.2197 0.4121 0.2239 0.2404 MODERATE 1 SNV PASS CCC . . 0.2804 0.2309 0.3381 0.2245 0.5364 0.1184 0.2322 0.2631 0.406 88897674 OBSL1 . GRCh38 chr2 219552220 219552220 + Splice_Region SNP G C C rs34490902 7316-109 BS_F42WG7E7 G G c.5309-4C>G ENST00000404537 56 3 51 23 18 5 OBSL1,splice_region_variant,,ENST00000373876,;OBSL1,splice_region_variant,,ENST00000404537,NM_015311.2;TMEM198,downstream_gene_variant,,ENST00000344458,NM_001303098.1;TMEM198,downstream_gene_variant,,ENST00000373883,NM_001005209.2;TMEM198,downstream_gene_variant,,ENST00000421791,;TMEM198,downstream_gene_variant,,ENST00000451952,;OBSL1,downstream_gene_variant,,ENST00000456147,;OBSL1,downstream_gene_variant,,ENST00000603926,NM_001173431.1;OBSL1,downstream_gene_variant,,ENST00000604031,;MIR3132,upstream_gene_variant,,ENST00000581997,;AC009955.3,upstream_gene_variant,,ENST00000596829,;OBSL1,splice_region_variant,,ENST00000465149,;OBSL1,splice_region_variant,,ENST00000489804,;OBSL1,non_coding_transcript_exon_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000472388,;OBSL1,downstream_gene_variant,,ENST00000596474,;,regulatory_region_variant,,ENSR00000130574,; C ENSG00000124006 ENST00000404537 Transcript splice_region_variant,intron_variant rs34490902 1 -1 OBSL1 HGNC HGNC:29092 protein_coding YES CCDS46520.1 ENSP00000385636 O75147 UPI0000E07EA0 NM_015311.2 18/20 0.3876 0.3812 0.5231 0.379 0.4702 0.2239 0.3923 0.4551 benign LOW 1 SNV 1 1 1 PASS GGG . . 0.4462 0.4036 0.5492 0.325 0.4241 0.5507 0.4683 0.4372 0.2594 219552220 SEC13 . GRCh38 chr3 10312600 10312600 + Missense_Mutation SNP G G T 7316-109 BS_F42WG7E7 G G c.433C>A p.His145Asn p.H145N ENST00000383801 5/10 56 44 11 29 28 0 SEC13,missense_variant,p.His85Asn,ENST00000397117,;SEC13,missense_variant,p.His145Asn,ENST00000383801,NM_001136026.2;SEC13,missense_variant,p.His85Asn,ENST00000397109,NM_001136232.2;SEC13,missense_variant,p.His99Asn,ENST00000350697,NM_183352.2;SEC13,missense_variant,p.His102Asn,ENST00000337354,NM_030673.3;SEC13,downstream_gene_variant,,ENST00000431352,;SEC13,non_coding_transcript_exon_variant,,ENST00000479868,;SEC13,non_coding_transcript_exon_variant,,ENST00000477547,;SEC13,non_coding_transcript_exon_variant,,ENST00000397105,NM_001278946.1;SEC13,non_coding_transcript_exon_variant,,ENST00000482647,;SEC13,downstream_gene_variant,,ENST00000397099,;SEC13,downstream_gene_variant,,ENST00000397101,;SEC13,downstream_gene_variant,,ENST00000397102,; T ENSG00000157020 ENST00000383801 Transcript missense_variant 505/1479 433/1107 145/368 H/N Cat/Aat COSM6773955 1 -1 SEC13 HGNC HGNC:10697 protein_coding YES CCDS63540.1 ENSP00000373312 P55735 UPI0000D4C6C4 NM_001136026.2 tolerated(0.09) benign(0.259) 5/10 Gene3D:1.10.10.670,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR11024,hmmpanther:PTHR11024:SF2,SMART_domains:SM00320,Superfamily_domains:SSF50978 1 MODERATE 1 SNV 2 1 PASS TGC . . 10312600 ARPP21 . GRCh38 chr3 35707033 35707033 + Missense_Mutation SNP G G A rs769792653 7316-109 BS_F42WG7E7 G G c.746G>A p.Arg249Gln p.R249Q ENST00000417925 9/19 47 35 12 22 22 0 ARPP21,missense_variant,p.Arg249Gln,ENST00000187397,NM_016300.4;ARPP21,missense_variant,p.Arg249Gln,ENST00000444190,NM_001267617.1;ARPP21,missense_variant,p.Arg249Gln,ENST00000417925,NM_001267619.1;ARPP21,intron_variant,,ENST00000425289,;ARPP21,intron_variant,,ENST00000476327,;ARPP21,missense_variant,p.Arg112Gln,ENST00000446068,;ARPP21,non_coding_transcript_exon_variant,,ENST00000494494,;ARPP21,intron_variant,,ENST00000427590,; A ENSG00000172995 ENST00000417925 Transcript missense_variant 960/3086 746/2442 249/813 R/Q cGg/cAg rs769792653,COSM1177817 1 1 ARPP21 HGNC HGNC:16968 protein_coding YES CCDS58823.1 ENSP00000412326 Q9UBL0 UPI0000209B3D NM_001267619.1 deleterious(0) possibly_damaging(0.847) 9/19 PROSITE_profiles:PS51673,hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF14,Superfamily_domains:SSF82708 0,1 MODERATE 1 SNV 2 0,1 PASS CGG . . 3.251e-05 0.00026 35707033 MBD4 . GRCh38 chr3 129436705 129436705 + Frame_Shift_Del DEL T T - rs747480541 7316-109 BS_F42WG7E7 T T c.939del p.Glu314LysfsTer4 p.E314Kfs*4 ENST00000249910 3/8 43 31 7 27 21 0 MBD4,frameshift_variant,p.Glu314LysfsTer4,ENST00000429544,NM_001276270.1;MBD4,frameshift_variant,p.Glu314LysfsTer4,ENST00000249910,NM_003925.2;MBD4,frameshift_variant,p.Glu314LysfsTer4,ENST00000507208,NM_001276271.1;MBD4,frameshift_variant,p.Glu314LysfsTer4,ENST00000503197,NM_001276272.1;MBD4,intron_variant,,ENST00000393278,NM_001276273.1;IFT122,upstream_gene_variant,,ENST00000296266,NM_052985.3;IFT122,upstream_gene_variant,,ENST00000347300,NM_018262.3;IFT122,upstream_gene_variant,,ENST00000348417,NM_052989.2;IFT122,upstream_gene_variant,,ENST00000349441,NM_052990.2;IFT122,upstream_gene_variant,,ENST00000431818,NM_001280545.1;IFT122,upstream_gene_variant,,ENST00000440957,NM_001280546.1;IFT122,upstream_gene_variant,,ENST00000504021,;IFT122,upstream_gene_variant,,ENST00000507564,NM_001280541.1;MBD4,intron_variant,,ENST00000509587,;MBD4,downstream_gene_variant,,ENST00000505883,;MBD4,intron_variant,,ENST00000509828,;MBD4,upstream_gene_variant,,ENST00000511009,;IFT122,upstream_gene_variant,,ENST00000512220,;MBD4,upstream_gene_variant,,ENST00000515266,; - ENSG00000129071 ENST00000249910 Transcript frameshift_variant 1115/2470 939/1743 313/580 K/X aaA/aa rs747480541,TMP_ESP_3_129155548_129155548,COSM3729906 1 -1 MBD4 HGNC HGNC:6919 protein_coding YES CCDS3058.1 ENSP00000249910 O95243 UPI0000073E6A NM_003925.2 3/8 hmmpanther:PTHR15074:SF6,hmmpanther:PTHR15074,Gene3D:3.30.890.10,PIRSF_domain:PIRSF038005 0.01337 0.008364 0,0,1 HIGH 1 deletion 1 0,0,1 PASS TCTT . . 0.002867 0.0004384 0.001082 0.0008938 0.001575 0.002655 0.002362 0.002313 0.01089 129436704 MUC4 . GRCh38 chr3 195778882 195778882 + Missense_Mutation SNP A A G rs11917433 7316-109 BS_F42WG7E7 A A c.12698T>C p.Val4233Ala p.V4233A ENST00000463781 2/25 65 46 13 34 32 0 MUC4,missense_variant,p.Val4233Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Val4233Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Val4233Ala,ENST00000478156,;MUC4,missense_variant,p.Val4233Ala,ENST00000466475,;MUC4,missense_variant,p.Val4233Ala,ENST00000477756,;MUC4,missense_variant,p.Val4233Ala,ENST00000477086,;MUC4,missense_variant,p.Val4233Ala,ENST00000480843,;MUC4,missense_variant,p.Val4233Ala,ENST00000462323,;MUC4,missense_variant,p.Val4233Ala,ENST00000470451,;MUC4,missense_variant,p.Val4233Ala,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 13158/17110 12698/16239 4233/5412 V/A gTa/gCa rs11917433,COSM4597692 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.59) benign(0.015) 2/25 hmmpanther:PTHR42668 0.0088 0.0121 0.013 0.0089 0.0102 0,1 MODERATE 1 SNV 5 0,1 1 PASS TAC . . 0.0001471 9.775e-05 0.0001564 0.0001601 0.0001548 0.000239 0.0002822 195778882 MUC4 . GRCh38 chr3 195786092 195786092 + Missense_Mutation SNP C C T rs200064400 7316-109 BS_F42WG7E7 C C c.5488G>A p.Ala1830Thr p.A1830T ENST00000463781 2/25 40 31 5 28 24 0 MUC4,missense_variant,p.Ala1830Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala1830Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala1830Thr,ENST00000478156,;MUC4,missense_variant,p.Ala1830Thr,ENST00000466475,;MUC4,missense_variant,p.Ala1830Thr,ENST00000477756,;MUC4,missense_variant,p.Ala1830Thr,ENST00000477086,;MUC4,missense_variant,p.Ala1830Thr,ENST00000480843,;MUC4,missense_variant,p.Ala1830Thr,ENST00000462323,;MUC4,missense_variant,p.Ala1830Thr,ENST00000470451,;MUC4,missense_variant,p.Ala1830Thr,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 5948/17110 5488/16239 1830/5412 A/T Gct/Act rs200064400,COSM5426403,COSM2946203 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.49) possibly_damaging(0.494) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GCG . . 0.0001892 0.001498 4.656e-05 0.0007509 0.0001068 0.0001883 195786092 EBF1 . GRCh38 chr5 159097047 159097047 + Missense_Mutation SNP G G A novel 7316-109 BS_F42WG7E7 G G c.218C>T p.Ala73Val p.A73V ENST00000313708 2/16 43 32 11 26 26 0 EBF1,missense_variant,p.Ala73Val,ENST00000313708,NM_001324106.1,NM_024007.4,NM_001324108.1,NM_001324107.1,NM_001290360.2,NM_001324101.1,NM_001324111.1,NM_001324103.1;EBF1,missense_variant,p.Ala73Val,ENST00000380654,NM_182708.2;EBF1,missense_variant,p.Ala73Val,ENST00000517373,NM_001324109.1;LINC02202,upstream_gene_variant,,ENST00000499583,;LINC02202,upstream_gene_variant,,ENST00000517335,;LINC02202,upstream_gene_variant,,ENST00000523301,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,non_coding_transcript_exon_variant,,ENST00000523315,;EBF1,upstream_gene_variant,,ENST00000519739,;EBF1,upstream_gene_variant,,ENST00000522192,; A ENSG00000164330 ENST00000313708 Transcript missense_variant 501/5250 218/1776 73/591 A/V gCc/gTc 1 -1 EBF1 HGNC HGNC:3126 protein_coding YES CCDS4343.1 ENSP00000322898 Q9UH73 UPI000000D95E NM_001324106.1,NM_024007.4,NM_001324108.1,NM_001324107.1,NM_001290360.2,NM_001324101.1,NM_001324111.1,NM_001324103.1 deleterious(0) probably_damaging(0.966) 2/16 cd11606,hmmpanther:PTHR10747:SF26,hmmpanther:PTHR10747,Pfam_domain:PF16422 MODERATE 1 SNV 1 1 PASS GGC . . 159097047 C1QTNF2 . GRCh38 chr5 160354794 160354794 + Missense_Mutation SNP C C A novel 7316-109 BS_F42WG7E7 C C c.353G>T p.Gly118Val p.G118V ENST00000393975 2/3 44 39 5 20 20 0 C1QTNF2,missense_variant,p.Gly118Val,ENST00000393975,NM_031908.4; A ENSG00000145861 ENST00000393975 Transcript missense_variant 357/2414 353/993 118/330 G/V gGc/gTc 1 -1 C1QTNF2 HGNC HGNC:14325 protein_coding YES CCDS4351.2 ENSP00000377545 Q9BXJ5 UPI0000D4B9D3 NM_031908.4 deleterious(0) probably_damaging(1) 2/3 Gene3D:2.160.20.50,Pfam_domain:PF01391,hmmpanther:PTHR44142,hmmpanther:PTHR44142:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCC . . 160354794 ADAMTS2 . GRCh38 chr5 179125089 179125089 + Missense_Mutation SNP C C T rs758419331 7316-109 BS_F42WG7E7 C C c.2842G>A p.Asp948Asn p.D948N ENST00000251582 19/22 42 33 9 25 23 0 ADAMTS2,missense_variant,p.Asp948Asn,ENST00000251582,NM_014244.4;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;ADAMTS2,upstream_gene_variant,,ENST00000523450,; T ENSG00000087116 ENST00000251582 Transcript missense_variant 2944/6754 2842/3636 948/1211 D/N Gac/Aac rs758419331,COSM1436475 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 tolerated(0.78) benign(0.04) 19/22 Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,SMART_domains:SM00209,Superfamily_domains:SSF82895 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCG . . 179125089 ZNF322 . GRCh38 chr6 26638361 26638361 + Frame_Shift_Del DEL G G - novel 7316-109 BS_F42WG7E7 G G c.193del p.His65IlefsTer48 p.H65Ifs*48 ENST00000622479 5/5 62 31 26 27 25 0 ZNF322,frameshift_variant,p.His65IlefsTer48,ENST00000622479,NM_001242797.1;ZNF322,frameshift_variant,p.His65IlefsTer48,ENST00000415922,NM_024639.4;ZNF322,frameshift_variant,p.His65IlefsTer48,ENST00000607204,NM_001242798.1;ZNF322,frameshift_variant,p.His65IlefsTer48,ENST00000456172,NM_001242799.1;ZNF322,frameshift_variant,p.His65IlefsTer48,ENST00000471278,;ZNF322,downstream_gene_variant,,ENST00000480036,;ZNF322,downstream_gene_variant,,ENST00000461899,;ZNF322,downstream_gene_variant,,ENST00000465674,; - ENSG00000181315 ENST00000622479 Transcript frameshift_variant 914/4882 193/1209 65/402 H/X Cat/at 1 -1 ZNF322 HGNC HGNC:23640 protein_coding YES CCDS4617.1 ENSP00000482607 Q6U7Q0 A0A024QZZ4 UPI00000437CC NM_001242797.1 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF61,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 HIGH 1 deletion 4 PASS ATGG . . 26638360 HLA-A . GRCh38 chr6 29944252 29944252 + Frame_Shift_Del DEL G G - rs60304108 7316-109 BS_F42WG7E7 G G c.751del p.Asp251ThrfsTer46 p.D251Tfs*46 ENST00000396634 6/10 38 31 6 18 18 0 HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000396634,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376806,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376809,NM_002116.7;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376802,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;AL671277.1,upstream_gene_variant,,ENST00000429656,; - ENSG00000206503 ENST00000396634 Transcript frameshift_variant 1091/1868 750/1098 250/365 Q/X caG/ca rs60304108,COSM5887934,COSM5887933,COSM5000719,COSM451152 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D 6/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,cd07698,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726,PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.4153 0.402 0.2857 0.3757 0.3701 0.3666 0.3685 0,1,1,1,1 HIGH 1 deletion 1 0,1,1,1,1 1 PASS CAGG . . 0.3577 0.3496 0.3496 0.3912 0.2297 0.3699 0.3914 0.3314 0.2963 29944251 MDC1 . GRCh38 chr6 30704981 30704981 + Missense_Mutation SNP C C A rs748601560 7316-109 BS_F42WG7E7 C C c.4202G>T p.Gly1401Val p.G1401V ENST00000376406 10/15 58 45 9 29 24 0 MDC1,missense_variant,p.Gly1401Val,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4850/7576 4202/6270 1401/2089 G/V gGc/gTc rs748601560 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GCC . . 0.007351 0.01338 0.01103 0.003108 0.01969 0.0009711 0.005031 0.01102 0.009859 30704981 MUCL3 . GRCh38 chr6 30949794 30949794 + Missense_Mutation SNP A A C rs1183333444 7316-109 BS_F42WG7E7 A A c.1330A>C p.Asn444His p.N444H ENST00000462446 2/3 72 58 11 28 26 0 MUCL3,missense_variant,p.Asn511His,ENST00000636043,;MUCL3,missense_variant,p.Asn444His,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; C ENSG00000168631 ENST00000462446 Transcript missense_variant 1358/5314 1330/4182 444/1393 N/H Aat/Cat rs1183333444 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(1) benign(0) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS AAA . . 30949794 TCTE1 . GRCh38 chr6 44280248 44280248 + Missense_Mutation SNP C C T rs777786727 7316-109 BS_F42WG7E7 C C c.1439G>A p.Arg480Gln p.R480Q ENST00000371505 5/5 59 40 18 30 30 0 TCTE1,missense_variant,p.Arg480Gln,ENST00000371505,NM_182539.3;TCTE1,missense_variant,p.Arg177Gln,ENST00000371504,;TMEM151B,intron_variant,,ENST00000438774,;TMEM151B,downstream_gene_variant,,ENST00000451188,NM_001137560.1;AL353588.1,intron_variant,,ENST00000505802,; T ENSG00000146221 ENST00000371505 Transcript missense_variant 1562/3067 1439/1506 480/501 R/Q cGg/cAg rs777786727,COSM6798911 1 -1 TCTE1 HGNC HGNC:11693 protein_coding YES CCDS4910.1 ENSP00000360560 Q5JU00 UPI0000160BC0 NM_182539.3 tolerated(0.17) benign(0.017) 5/5 hmmpanther:PTHR24107,cd00116 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 2.031e-05 0.0002615 2.978e-05 44280248 HOXA9 . GRCh38 chr7 27165363 27165363 + Missense_Mutation SNP G G T novel 7316-109 BS_F42WG7E7 G G c.95C>A p.Pro32Gln p.P32Q ENST00000343483 1/2 56 50 5 22 22 0 HOXA9,missense_variant,p.Pro32Gln,ENST00000343483,NM_152739.3;HOXA9,missense_variant,p.Pro32Gln,ENST00000396345,;AC004080.3,intron_variant,,ENST00000470747,;MIR196B,downstream_gene_variant,,ENST00000384852,;HOXA10-AS,upstream_gene_variant,,ENST00000519694,;HOXA10-AS,upstream_gene_variant,,ENST00000519935,;HOXA10-AS,upstream_gene_variant,,ENST00000523790,;HOXA9,intron_variant,,ENST00000465941,;HOXA9,intron_variant,,ENST00000487384,;HOXA9,intron_variant,,ENST00000489695,;HOXA9,intron_variant,,ENST00000497089,; T ENSG00000078399 ENST00000343483 Transcript missense_variant 168/2060 95/819 32/272 P/Q cCg/cAg 1 -1 HOXA9 HGNC HGNC:5109 protein_coding YES CCDS5409.1 ENSP00000343619 P31269 UPI0000000CA4 NM_152739.3 tolerated(0.81) benign(0.171) 1/2 Pfam_domain:PF04617,PIRSF_domain:PIRSF037109,hmmpanther:PTHR24326:SF226,hmmpanther:PTHR24326 MODERATE 1 SNV 1 1 PASS CGG . . 27165363 FOXD4L4 . GRCh38 chr9 65737474 65737474 + Missense_Mutation SNP C C G rs1353046191 7316-109 BS_F42WG7E7 C C c.329C>G p.Pro110Arg p.P110R ENST00000377413 1/1 54 44 10 18 18 0 FOXD4L4,missense_variant,p.Pro110Arg,ENST00000377413,NM_199244.3;CBWD5,downstream_gene_variant,,ENST00000377392,NM_001286835.1;CBWD5,downstream_gene_variant,,ENST00000377395,NM_001024916.3;CBWD5,downstream_gene_variant,,ENST00000382405,NM_001330668.1;CBWD5,downstream_gene_variant,,ENST00000429800,;CBWD5,downstream_gene_variant,,ENST00000430059,;CBWD5,downstream_gene_variant,,ENST00000489273,;CBWD5,downstream_gene_variant,,ENST00000468066,;CBWD5,downstream_gene_variant,,ENST00000476797,;CBWD5,downstream_gene_variant,,ENST00000486191,;CBWD5,downstream_gene_variant,,ENST00000377389,;CBWD5,downstream_gene_variant,,ENST00000461932,;CBWD5,downstream_gene_variant,,ENST00000463075,;CBWD5,downstream_gene_variant,,ENST00000480229,;CBWD5,downstream_gene_variant,,ENST00000480819,;CBWD5,downstream_gene_variant,,ENST00000485088,;CBWD5,downstream_gene_variant,,ENST00000486221,;CBWD5,downstream_gene_variant,,ENST00000491485,;CBWD5,downstream_gene_variant,,ENST00000497250,;,regulatory_region_variant,,ENSR00000235378,; G ENSG00000184659 ENST00000377413 Transcript missense_variant 920/2230 329/1251 110/416 P/R cCc/cGc rs1353046191 1 1 FOXD4L4 HGNC HGNC:23762 protein_coding YES CCDS75845.1 ENSP00000366630 Q8WXT5 UPI0000246F14 NM_199244.3 deleterious(0) probably_damaging(0.999) 1/1 cd00059,Gene3D:1.10.10.10,Pfam_domain:PF00250,SMART_domains:SM00339,Superfamily_domains:SSF46785,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF324,PROSITE_patterns:PS00657,Prints_domain:PR00053 MODERATE SNV PASS CCC . . 65737474 ZNF462 . GRCh38 chr9 106926937 106926937 + Frame_Shift_Del DEL C C - novel 7316-109 BS_F42WG7E7 C C c.3026del p.Pro1009LeufsTer132 p.P1009Lfs*132 ENST00000277225 3/13 69 34 26 29 29 0 ZNF462,frameshift_variant,p.Pro1009LeufsTer132,ENST00000277225,NM_021224.4;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000374686,;ZNF462,upstream_gene_variant,,ENST00000441147,;ZNF462,non_coding_transcript_exon_variant,,ENST00000480607,;ZNF462,upstream_gene_variant,,ENST00000497489,; - ENSG00000148143 ENST00000277225 Transcript frameshift_variant 3314/10414 3025/7521 1009/2506 P/X Cct/ct 1 1 ZNF462 HGNC HGNC:21684 protein_coding YES CCDS35096.1 ENSP00000277225 Q96JM2 UPI0000470106 NM_021224.4 3/13 Gene3D:2.40.155.10,hmmpanther:PTHR44863 HIGH 1 deletion 1 1 1 PASS CTCC . . 106926936 OPTN . GRCh38 chr10 13112643 13112643 + Splice_Region SNP T T C novel 7316-109 BS_F42WG7E7 T T c.552+8T>C ENST00000378748 67 48 19 20 20 0 OPTN,splice_region_variant,,ENST00000263036,;OPTN,splice_region_variant,,ENST00000378747,NM_001008212.1;OPTN,splice_region_variant,,ENST00000378748,NM_001008211.1,NM_001008213.1;OPTN,splice_region_variant,,ENST00000378752,;OPTN,splice_region_variant,,ENST00000378757,NM_021980.4;OPTN,splice_region_variant,,ENST00000378764,;OPTN,splice_region_variant,,ENST00000486862,;OPTN,upstream_gene_variant,,ENST00000424614,;OPTN,downstream_gene_variant,,ENST00000487935,;OPTN,splice_region_variant,,ENST00000430081,;OPTN,splice_region_variant,,ENST00000482140,; C ENSG00000123240 ENST00000378748 Transcript splice_region_variant,intron_variant 1 1 OPTN HGNC HGNC:17142 protein_coding YES CCDS7094.1 ENSP00000368022 Q96CV9 UPI0000073FF7 NM_001008211.1,NM_001008213.1 6/15 LOW 1 SNV 1 1 PASS TTT . . 13112643 TFAM . GRCh38 chr10 58388810 58388810 + Frame_Shift_Del DEL A A - rs544132101 7316-109 BS_F42WG7E7 A A c.441del p.Glu148SerfsTer2 p.E148Sfs*2 ENST00000487519 4/7 44 33 6 23 20 0 TFAM,frameshift_variant,p.Glu148SerfsTer2,ENST00000487519,NM_003201.2;TFAM,frameshift_variant,p.Glu148LysfsTer3,ENST00000373895,NM_001270782.1;TFAM,frameshift_variant,p.Glu130SerfsTer2,ENST00000395377,;TFAM,non_coding_transcript_exon_variant,,ENST00000373899,; - ENSG00000108064 ENST00000487519 Transcript frameshift_variant 958/5414 432/741 144/246 T/X acA/ac rs544132101,COSM1745058,COSM1348365 1 1 TFAM HGNC HGNC:11741 protein_coding YES CCDS7253.1 ENSP00000420588 Q00059 E5KSU5 UPI0000136C5F NM_003201.2 4/7 Gene3D:1.10.30.10,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF49,Superfamily_domains:SSF47095 0,1,1 HIGH 1 deletion 1 9 0,1,1 1 PASS ACAA . . 0.01051 0.003969 0.01236 0.01357 0.007254 0.01222 0.009775 0.01321 0.01519 58388809 SCART1 . GRCh38 chr10 133464684 133464684 + Missense_Mutation SNP G G A rs771953123 7316-109 BS_F42WG7E7 G G c.2048G>A p.Gly683Asp p.G683D ENST00000640237 7/12 58 43 11 35 35 0 SCART1,missense_variant,p.Gly683Asp,ENST00000640237,;SCART1,non_coding_transcript_exon_variant,,ENST00000482993,;SCART1,non_coding_transcript_exon_variant,,ENST00000488261,;SCART1,non_coding_transcript_exon_variant,,ENST00000462252,;SCART1,intron_variant,,ENST00000463137,;SCART1,upstream_gene_variant,,ENST00000475114,; A ENSG00000214279 ENST00000640237 Transcript missense_variant 2100/4351 2048/3084 683/1027 G/D gGc/gAc rs771953123 1 1 SCART1 HGNC HGNC:32411 protein_coding YES ENSP00000491516 Q4G0T1 UPI000198C90A deleterious(0) probably_damaging(0.997) 7/12 Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF313,Superfamily_domains:SSF56487 MODERATE 1 SNV 5 PASS GGC . . 1.545e-05 9.095e-05 133464684 CKAP5 . GRCh38 chr11 46811096 46811096 + Nonsense_Mutation SNP G G A novel 7316-109 BS_F42WG7E7 G G c.541C>T p.Arg181Ter p.R181* ENST00000529230 5/44 61 28 33 35 34 0 CKAP5,stop_gained,p.Arg181Ter,ENST00000529230,NM_001008938.3;CKAP5,stop_gained,p.Arg181Ter,ENST00000312055,NM_014756.3;CKAP5,stop_gained,p.Arg181Ter,ENST00000354558,; A ENSG00000175216 ENST00000529230 Transcript stop_gained 588/7121 541/6099 181/2032 R/* Cga/Tga 1 -1 CKAP5 HGNC HGNC:28959 protein_coding YES CCDS31477.1 ENSP00000432768 Q14008 UPI000013F21E NM_001008938.3 5/44 Gene3D:1.25.10.10,hmmpanther:PTHR12609,hmmpanther:PTHR12609:SF0,SMART_domains:SM01349,Superfamily_domains:SSF48371 HIGH 1 SNV 5 PASS CGA . . 46811096 AHNAK . GRCh38 chr11 62528050 62528050 + Missense_Mutation SNP C C T rs1469867186 7316-109 BS_F42WG7E7 C C c.6367G>A p.Asp2123Asn p.D2123N ENST00000378024 5/5 84 70 10 29 26 0 AHNAK,missense_variant,p.Asp2123Asn,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 6642/18787 6367/17673 2123/5890 D/N Gac/Aac rs1469867186,COSM4812664,COSM1298304 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.07) benign(0.009) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TCC . . 62528050 OR8B2 . GRCh38 chr11 124383204 124383204 + Missense_Mutation SNP G G A rs71491826 7316-109 BS_F42WG7E7 G G c.140C>T p.Thr47Ile p.T47I ENST00000641451 2/2 46 32 14 32 30 1 OR8B2,missense_variant,p.Thr47Ile,ENST00000641451,;OR8B2,missense_variant,p.Thr47Ile,ENST00000375013,NM_001005468.1; A ENSG00000284680 ENST00000641451 Transcript missense_variant 246/1056 140/942 47/313 T/I aCt/aTt rs71491826,COSM4594146 1 -1 OR8B2 HGNC HGNC:8471 protein_coding YES CCDS31708.1 ENSP00000493235 Q96RD0 A0A126GVQ4 UPI000004B1E5 tolerated_low_confidence(0.76) benign(0) 2/2 PROSITE_profiles:PS50262,cd15405,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF432,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix 0,1 MODERATE 1 SNV 0,1 PASS AGT . . 0.1024 0.309 0.1709 0.04405 0.09887 0.06298 0.06519 0.08057 0.1213 124383204 ITGAX . GRCh38 chr16 31376850 31376850 + Missense_Mutation SNP G G T novel 7316-109 BS_F42WG7E7 G G c.2560G>T p.Gly854Trp p.G854W ENST00000562522 21/31 51 40 10 37 37 0 ITGAX,missense_variant,p.Gly854Trp,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Gly854Trp,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000562138,; T ENSG00000140678 ENST00000562522 Transcript missense_variant 2593/3990 2560/3510 854/1169 G/W Ggg/Tgg 1 1 ITGAX HGNC HGNC:6152 protein_coding YES CCDS67014.1 ENSP00000454623 H3BN02 UPI000041E001 NM_001286375.1 deleterious(0) possibly_damaging(0.883) 21/31 Gene3D:2.60.40.1510,Pfam_domain:PF08441,Superfamily_domains:SSF69179,hmmpanther:PTHR23220:SF19,hmmpanther:PTHR23220 MODERATE 1 SNV 1 PASS TGG . . 31376850 INCA1 . GRCh38 chr17 4988881 4988881 + Missense_Mutation SNP C G G rs74744272 7316-109 BS_F42WG7E7 C C c.459G>C p.Glu153Asp p.E153D ENST00000574617 7/8 45 2 43 27 20 7 INCA1,missense_variant,p.Glu138Asp,ENST00000355025,NM_213726.2;INCA1,missense_variant,p.Glu153Asp,ENST00000574617,NM_001167986.1;INCA1,missense_variant,p.Glu138Asp,ENST00000575780,NM_001167985.1;INCA1,missense_variant,p.Glu153Asp,ENST00000576820,NM_001167987.1;CAMTA2,upstream_gene_variant,,ENST00000348066,NM_015099.3;CAMTA2,upstream_gene_variant,,ENST00000361571,NM_001171168.1;CAMTA2,upstream_gene_variant,,ENST00000381311,NM_001171166.1;CAMTA2,upstream_gene_variant,,ENST00000414043,NM_001171167.1;CAMTA2,upstream_gene_variant,,ENST00000572543,;CAMTA2,upstream_gene_variant,,ENST00000574606,;AC004771.3,downstream_gene_variant,,ENST00000574260,;AC004771.5,downstream_gene_variant,,ENST00000575985,;CAMTA2,upstream_gene_variant,,ENST00000573004,;CAMTA2,upstream_gene_variant,,ENST00000574951,; G ENSG00000196388 ENST00000574617 Transcript missense_variant 815/1260 459/711 153/236 E/D gaG/gaC rs74744272,COSM3766132,COSM3766131 1 -1 INCA1 HGNC HGNC:32224 protein_coding YES CCDS54074.1 ENSP00000458316 Q0VD86 UPI0000DBE4BA NM_001167986.1 tolerated(0.47) benign(0.009) 7/8 Pfam_domain:PF15142,Prints_domain:PR02102,hmmpanther:PTHR37341 0.0559 0.0287 0.0605 0.0486 0.1262 0.0245 0.03926 0.1185 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCT . . 0.09509 0.03606 0.05822 0.07933 0.04998 0.1695 0.1238 0.1054 0.03517 4988881 NEURL4 . GRCh38 chr17 7317378 7317378 + Splice_Region SNP G T T rs62059198 7316-109 BS_F42WG7E7 G G c.4319-8C>A ENST00000399464 46 1 43 35 28 7 NEURL4,splice_region_variant,,ENST00000315614,NM_001005408.1;NEURL4,splice_region_variant,,ENST00000399464,NM_032442.2;NEURL4,splice_region_variant,,ENST00000570460,;NEURL4,splice_region_variant,,ENST00000571887,;EIF5A,downstream_gene_variant,,ENST00000336452,NM_001143760.1;EIF5A,downstream_gene_variant,,ENST00000336458,NM_001970.4;GPS2,upstream_gene_variant,,ENST00000380728,;GPS2,upstream_gene_variant,,ENST00000389167,NM_004489.4;EIF5A,downstream_gene_variant,,ENST00000416016,NM_001143762.1;EIF5A,downstream_gene_variant,,ENST00000419711,NM_001143761.1;GPS2,upstream_gene_variant,,ENST00000570780,;EIF5A,downstream_gene_variant,,ENST00000571955,;GPS2,upstream_gene_variant,,ENST00000573684,;GPS2,upstream_gene_variant,,ENST00000574458,;EIF5A,downstream_gene_variant,,ENST00000576930,;GPS2,upstream_gene_variant,,ENST00000577040,;NEURL4,splice_region_variant,,ENST00000574120,;AC026954.2,splice_region_variant,,ENST00000315601,;NEURL4,splice_region_variant,,ENST00000572680,;NEURL4,splice_region_variant,,ENST00000573186,;AC026954.2,splice_region_variant,,ENST00000575474,;NEURL4,splice_region_variant,,ENST00000576794,;GPS2,upstream_gene_variant,,ENST00000571098,;NEURL4,downstream_gene_variant,,ENST00000571508,;GPS2,upstream_gene_variant,,ENST00000571569,;GPS2,upstream_gene_variant,,ENST00000571695,;GPS2,upstream_gene_variant,,ENST00000571697,;NEURL4,downstream_gene_variant,,ENST00000572029,;GPS2,upstream_gene_variant,,ENST00000572172,;GPS2,upstream_gene_variant,,ENST00000572363,;GPS2,upstream_gene_variant,,ENST00000572707,;GPS2,upstream_gene_variant,,ENST00000573059,;NEURL4,downstream_gene_variant,,ENST00000573651,;GPS2,upstream_gene_variant,,ENST00000573807,;GPS2,upstream_gene_variant,,ENST00000574201,; T ENSG00000215041 ENST00000399464 Transcript splice_region_variant,intron_variant rs62059198 1 -1 NEURL4 HGNC HGNC:34410 protein_coding YES CCDS42251.1 ENSP00000382390 Q96JN8 UPI000020081C NM_032442.2 27/28 0.1661 0.0083 0.232 0.1071 0.2833 0.273 0.05667 0.3307 LOW 1 SNV 1 PASS GGA . . 0.2567 0.05163 0.2359 0.2266 0.1004 0.2419 0.3185 0.2654 0.2792 7317378 KRTAP9-9 . GRCh38 chr17 41255442 41255442 + Missense_Mutation SNP G G C rs751992046 7316-109 BS_F42WG7E7 G G c.57G>C p.Trp19Cys p.W19C ENST00000394008 1/1 30 23 6 14 14 0 KRTAP9-9,missense_variant,p.Trp19Cys,ENST00000394008,NM_030975.2;KRTAP9-4,downstream_gene_variant,,ENST00000334109,NM_033191.2; C ENSG00000198083 ENST00000394008 Transcript missense_variant 59/981 57/510 19/169 W/C tgG/tgC rs751992046,COSM4266839 1 1 KRTAP9-9 HGNC HGNC:16773 protein_coding YES CCDS54127.1 ENSP00000377576 Q9BYP9 UPI00002264BA NM_030975.2 tolerated(1) unknown(0) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF140,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 0,1 PASS GGA . . 0.0002568 0.0002776 0.0002867 0.000124 0.0007725 0.0001966 0.0003858 0.000203 41255442 COG1 . GRCh38 chr17 73200670 73200670 + Missense_Mutation SNP A G G rs1026128 7316-109 BS_F42WG7E7 A A c.1175A>G p.Asn392Ser p.N392S ENST00000299886 6/14 75 14 61 17 14 3 COG1,missense_variant,p.Asn392Ser,ENST00000438720,;COG1,missense_variant,p.Asn392Ser,ENST00000618996,;COG1,missense_variant,p.Asn392Ser,ENST00000299886,NM_018714.2;COG1,upstream_gene_variant,,ENST00000582512,;AC097641.2,downstream_gene_variant,,ENST00000613523,;AC097641.1,downstream_gene_variant,,ENST00000580671,;COG1,upstream_gene_variant,,ENST00000577844,;COG1,upstream_gene_variant,,ENST00000580271,;COG1,downstream_gene_variant,,ENST00000582587,; G ENSG00000166685 ENST00000299886 Transcript missense_variant 1255/3079 1175/2943 392/980 N/S aAt/aGt rs1026128,COSM3755788 1 1 COG1 HGNC HGNC:6545 protein_coding YES CCDS11692.1 ENSP00000299886 Q8WTW3 UPI0000127E34 NM_018714.2 tolerated(1) benign(0) 6/14 hmmpanther:PTHR31658,hmmpanther:PTHR31658:SF0 0.521 0.4909 0.5 0.6171 0.5527 0.4448 0.5175 0.5397 benign 0,1 23757202,20856902 MODERATE 1 SNV 1 1,1 1 PASS AAT . . 0.5213 0.5044 0.5365 0.4509 0.6121 0.4759 0.5347 0.518 0.4697 73200670 ZNF429 . GRCh38 chr19 21536917 21536917 + Missense_Mutation SNP T T A rs143458227 7316-109 BS_F42WG7E7 T T c.864T>A p.Asp288Glu p.D288E ENST00000358491 4/4 82 69 7 31 27 0 ZNF429,missense_variant,p.Asp288Glu,ENST00000358491,NM_001001415.2;ZNF429,missense_variant,p.Asp260Glu,ENST00000618549,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,; A ENSG00000197013 ENST00000358491 Transcript missense_variant 1072/2233 864/2025 288/674 D/E gaT/gaA rs143458227,COSM6281336 1 1 ZNF429 HGNC HGNC:20817 protein_coding YES CCDS42537.1 ENSP00000351280 Q86V71 UPI000022ABC2 NM_001001415.2 tolerated(1) benign(0.015) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0.0136 0.0231 0.0179 0.0348 0.002563 0.01414 0,1 MODERATE 1 SNV 3 0,1 1 PASS ATG . . 0.01885 0.001974 0.02454 0.01242 0.0004062 0.04529 0.0151 0.01846 0.02793 21536917 ZNF100 . GRCh38 chr19 21727443 21727443 + Missense_Mutation SNP C C T rs878963493 7316-109 BS_F42WG7E7 C C c.869G>A p.Arg290Lys p.R290K ENST00000358296 5/5 98 88 8 35 34 0 ZNF100,missense_variant,p.Arg290Lys,ENST00000358296,NM_173531.3;ZNF100,missense_variant,p.Arg226Lys,ENST00000305570,;ZNF100,missense_variant,p.Arg289Lys,ENST00000608416,;ZNF100,downstream_gene_variant,,ENST00000594401,; T ENSG00000197020 ENST00000358296 Transcript missense_variant 1068/5745 869/1629 290/542 R/K aGa/aAa rs878963493,COSM710864 1 -1 ZNF100 HGNC HGNC:12880 protein_coding YES CCDS42538.1 ENSP00000351042 Q8IYN0 UPI00001614AC NM_173531.3 tolerated(1) benign(0) 5/5 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS TCT . . 21727443 BCAM . GRCh38 chr19 44819727 44819727 + Splice_Site SNP G G A rs1230351368 7316-109 BS_F42WG7E7 G G c.1763+1G>A p.X588_splice ENST00000270233 73 61 11 26 25 0 BCAM,splice_donor_variant,,ENST00000270233,NM_005581.4;BCAM,synonymous_variant,p.Pro588=,ENST00000611077,NM_001013257.2;BCAM,non_coding_transcript_exon_variant,,ENST00000588714,;BCAM,downstream_gene_variant,,ENST00000589558,;BCAM,downstream_gene_variant,,ENST00000590196,; A ENSG00000187244 ENST00000270233 Transcript splice_donor_variant rs1230351368 1 1 BCAM HGNC HGNC:6722 protein_coding YES CCDS12644.1 ENSP00000270233 P50895 UPI0000190806 NM_005581.4 13/14 HIGH 1 SNV 1 1 PASS CGT . . 4.455e-06 3.496e-05 44819727 MYH14 . GRCh38 chr19 50210456 50210456 + Missense_Mutation SNP C A A rs590722 7316-109 BS_F42WG7E7 C C c.91C>A p.Pro31Thr p.P31T ENST00000642316 2/43 62 15 46 30 25 5 MYH14,missense_variant,p.Pro31Thr,ENST00000642316,NM_001145809.1;MYH14,missense_variant,p.Pro31Thr,ENST00000601313,;MYH14,missense_variant,p.Pro31Thr,ENST00000425460,NM_001077186.1;MYH14,missense_variant,p.Pro31Thr,ENST00000376970,NM_024729.3;MYH14,missense_variant,p.Pro31Thr,ENST00000598205,;MYH14,missense_variant,p.Pro31Thr,ENST00000596571,;MYH14,missense_variant,p.Pro31Thr,ENST00000599920,;MYH14,missense_variant,p.Pro31Thr,ENST00000642980,;MYH14,intron_variant,,ENST00000440075,;MYH14,missense_variant,p.Pro31Thr,ENST00000646861,;,regulatory_region_variant,,ENSR00000288928,; A ENSG00000105357 ENST00000642316 Transcript missense_variant 132/6902 91/6111 31/2036 P/T Ccc/Acc rs590722,COSM3749540,COSM3749539,COSM3749538 1 1 MYH14 HGNC HGNC:23212 protein_coding YES CCDS54295.1 ENSP00000493594 UPI0001641C2F NM_001145809.1 tolerated_low_confidence(0.08) benign(0.037) 2/43 mobidb-lite,hmmpanther:PTHR13140:SF462,hmmpanther:PTHR13140 0.1879 0.1581 0.1527 0.2579 0.1372 0.2331 0.1084 0.1164 benign,likely_benign 0,1,1,1 25741868,24033266 MODERATE 1 SNV 1,1,1,1 1 PASS GCC . . 0.1668 0.1843 0.1505 0.1432 0.2853 0.127 0.1525 0.1552 0.1955 50210456 LILRA2 . GRCh38 chr19 54576077 54576077 + Missense_Mutation SNP T T A rs750908758 7316-109 BS_F42WG7E7 T T c.1223T>A p.Leu408His p.L408H ENST00000251377 7/9 90 76 10 33 31 0 LILRA2,missense_variant,p.Leu408His,ENST00000251376,NM_001290271.1,NM_006866.3;LILRA2,missense_variant,p.Leu408His,ENST00000251377,;LILRA2,missense_variant,p.Leu408His,ENST00000391738,NM_001130917.2;LILRA2,missense_variant,p.Leu396His,ENST00000391737,NM_001290270.1;LILRA2,missense_variant,p.Leu145His,ENST00000629481,;LILRA2,missense_variant,p.Leu3His,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000439534,;LILRA2,downstream_gene_variant,,ENST00000495786,; A ENSG00000239998 ENST00000251377 Transcript missense_variant 1356/1799 1223/1452 408/483 L/H cTc/cAc rs750908758 1 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000251377 Q8N149 UPI00034F238E tolerated(1) benign(0) 7/9 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00409,Superfamily_domains:SSF48726,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTC . . 2.847e-05 3.584e-05 0.000366 3.261e-05 54576077 CLTCL1 . GRCh38 chr22 19183515 19183515 + Missense_Mutation SNP C C A novel 7316-109 BS_F42WG7E7 C C c.4702G>T p.Ala1568Ser p.A1568S ENST00000427926 30/33 52 45 5 32 32 0 CLTCL1,missense_variant,p.Ala1568Ser,ENST00000427926,NM_007098.3;CLTCL1,missense_variant,p.Ala1511Ser,ENST00000621271,NM_001835.3;CLTCL1,missense_variant,p.Ala297Ser,ENST00000622493,;CLTCL1,missense_variant,p.Ala391Ser,ENST00000617926,;SLC25A1,upstream_gene_variant,,ENST00000215882,NM_001256534.1,NM_005984.4;SLC25A1,upstream_gene_variant,,ENST00000451283,NM_001287387.1;SLC25A1,upstream_gene_variant,,ENST00000468824,;CLTCL1,3_prime_UTR_variant,,ENST00000617103,;CLTCL1,3_prime_UTR_variant,,ENST00000538828,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000615606,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000412649,;SLC25A1,upstream_gene_variant,,ENST00000470922,; A ENSG00000070371 ENST00000427926 Transcript missense_variant 4775/5513 4702/4923 1568/1640 A/S Gct/Tct 1 -1 CLTCL1 HGNC HGNC:2093 protein_coding YES CCDS46662.2 ENSP00000441158 P53675 UPI0000127ABE NM_007098.3 tolerated(0.1) possibly_damaging(0.685) 30/33 Gene3D:1.25.40.10,PIRSF_domain:PIRSF002290,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,SMART_domains:SM00299 MODERATE 1 SNV 1 1 PASS GCT . . 19183515 MED15 . GRCh38 chr22 20564506 20564508 + In_Frame_Del DEL CAG CAG - rs756628535 7316-109 BS_F42WG7E7 CAG CAG c.520_522del p.Gln174del p.Q174del ENST00000263205 6/18 68 52 6 26 25 0 MED15,inframe_deletion,p.Gln174del,ENST00000263205,NM_001003891.2;MED15,inframe_deletion,p.Gln174del,ENST00000292733,NM_001293234.1,NM_015889.4;MED15,inframe_deletion,p.Gln148del,ENST00000406969,NM_001293237.1,NM_001293235.1;MED15,inframe_deletion,p.Gln103del,ENST00000382974,NM_001293236.1;MED15,inframe_deletion,p.Gln135del,ENST00000457322,;MED15,inframe_deletion,p.Gln77del,ENST00000432052,;MED15,inframe_deletion,p.Gln127del,ENST00000424287,;MED15,inframe_deletion,p.Gln115del,ENST00000423862,;MED15,inframe_deletion,p.Gln56del,ENST00000428629,;MED15,downstream_gene_variant,,ENST00000414658,;MED15,non_coding_transcript_exon_variant,,ENST00000487550,;MED15,non_coding_transcript_exon_variant,,ENST00000473028,;MED15,downstream_gene_variant,,ENST00000477824,;MED15,upstream_gene_variant,,ENST00000478831,;MED15,3_prime_UTR_variant,,ENST00000433831,;MED15,3_prime_UTR_variant,,ENST00000441501,;MED15,non_coding_transcript_exon_variant,,ENST00000492381,;MED15,non_coding_transcript_exon_variant,,ENST00000476767,;MED15,downstream_gene_variant,,ENST00000444094,;,regulatory_region_variant,,ENSR00000143915,; - ENSG00000099917 ENST00000263205 Transcript inframe_deletion 577-579/3351 508-510/2367 170/788 Q/- CAG/- rs756628535,TMP_ESP_22_20918793_20918795,COSM5858958,COSM5858957 1 1 MED15 HGNC HGNC:14248 protein_coding YES CCDS33602.1 ENSP00000263205 Q96RN5 UPI00001313C4 NM_001003891.2 6/18 Gene3D:1.10.238.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09606,hmmpanther:PTHR31804,Low_complexity_(Seg):seg 0.01343 0.01583 0,0,1,1 MODERATE 1 deletion 1 12 0,0,1,1 PASS TCCAGC . . 0.0002146 6.976e-05 9.303e-05 0.0002418 4.648e-05 0.0003459 0.0001692 20564505 MT-ND1 . GRCh38 chrM 3358 3358 + Missense_Mutation SNP G G A novel 7316-109 BS_F42WG7E7 G G c.52G>A p.Ala18Thr p.A18T ENST00000361390 1/1 7819 5723 2003 1884 1839 0 MT-ND1,missense_variant,p.Ala18Thr,ENST00000361390,;MT-ND2,upstream_gene_variant,,ENST00000361453,;MT-CO1,upstream_gene_variant,,ENST00000361624,;MT-CO2,upstream_gene_variant,,ENST00000361739,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-TF,downstream_gene_variant,,ENST00000387314,;MT-TV,downstream_gene_variant,,ENST00000387342,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,upstream_gene_variant,,ENST00000387365,;MT-TQ,downstream_gene_variant,,ENST00000387372,;MT-TM,upstream_gene_variant,,ENST00000387377,;MT-TW,upstream_gene_variant,,ENST00000387382,;MT-TA,downstream_gene_variant,,ENST00000387392,;MT-TN,downstream_gene_variant,,ENST00000387400,;MT-TC,downstream_gene_variant,,ENST00000387405,;MT-TY,downstream_gene_variant,,ENST00000387409,;MT-TS1,downstream_gene_variant,,ENST00000387416,;MT-TD,upstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-RNR1,downstream_gene_variant,,ENST00000389680,; A ENSG00000198888 ENST00000361390 Transcript missense_variant 52/956 52/956 18/318 A/T Gca/Aca 1 1 MT-ND1 HGNC HGNC:7455 protein_coding YES ENSP00000354687 P03886 U5Z754 UPI0000000AA1 deleterious_low_confidence(0) probably_damaging(1) 1/1 PDB-ENSP_mappings:5xtc.s,PDB-ENSP_mappings:5xtd.s,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,HAMAP:MF_01350,hmmpanther:PTHR11432:SF3,hmmpanther:PTHR11432,Pfam_domain:PF00146 MODERATE 1 SNV 1 PASS GGC . . 3358 MT-ND5 . GRCh38 chrM 12631 12631 + Missense_Mutation SNP T T C novel 7316-109 BS_F42WG7E7 T T c.295T>C p.Ser99Pro p.S99P ENST00000361567 1/1 8831 5036 3659 2154 2117 1 MT-ND5,missense_variant,p.Ser99Pro,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339370,; C ENSG00000198786 ENST00000361567 Transcript missense_variant 295/1812 295/1812 99/603 S/P Tcc/Ccc 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D deleterious_low_confidence(0) possibly_damaging(0.656) 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF00662,Prints_domain:PR01434,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS GTC . . 12631 MT-ND6 . GRCh38 chrM 14481 14481 + Missense_Mutation SNP C C T novel 7316-109 BS_F42WG7E7 C C c.193G>A p.Val65Ile p.V65I ENST00000361681 1/1 7721 6789 745 1840 1747 1 MT-ND6,missense_variant,p.Val65Ile,ENST00000361681,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND5,downstream_gene_variant,,ENST00000361567,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,; T ENSG00000198695 ENST00000361681 Transcript missense_variant 193/525 193/525 65/174 V/I Gtt/Att 1 -1 MT-ND6 HGNC HGNC:7462 protein_coding YES ENSP00000354665 P03923 U5Z977 UPI0000000AA9 deleterious(0.05) benign(0.094) 1/1 PDB-ENSP_mappings:5xtc.m,PDB-ENSP_mappings:5xtd.m,Pfam_domain:PF00499,hmmpanther:PTHR11435,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS ACC . . 14481 MAP3K6 . GRCh38 chr1 27356589 27356589 + Splice_Site SNP C C T novel 7316-278 BS_YVRSCEC6 C C c.3524+1G>A p.X1175_splice ENST00000493901 81 39 42 42 40 0 MAP3K6,splice_donor_variant,,ENST00000357582,;MAP3K6,splice_donor_variant,,ENST00000374040,NM_001297609.1;MAP3K6,splice_donor_variant,,ENST00000493901,NM_004672.4;MAP3K6,intron_variant,,ENST00000472410,;SYTL1,downstream_gene_variant,,ENST00000318074,NM_032872.2;MAP3K6,upstream_gene_variant,,ENST00000486046,;SYTL1,downstream_gene_variant,,ENST00000543823,;SYTL1,downstream_gene_variant,,ENST00000616558,NM_001193308.1;SYTL1,downstream_gene_variant,,ENST00000618673,;MAP3K6,splice_donor_variant,,ENST00000470890,;SYTL1,downstream_gene_variant,,ENST00000475199,;MAP3K6,downstream_gene_variant,,ENST00000476509,;SYTL1,downstream_gene_variant,,ENST00000483926,;SYTL1,downstream_gene_variant,,ENST00000490170,;MAP3K6,downstream_gene_variant,,ENST00000495230,;SYTL1,downstream_gene_variant,,ENST00000615284,;,regulatory_region_variant,,ENSR00000003701,; T ENSG00000142733 ENST00000493901 Transcript splice_donor_variant 1 -1 MAP3K6 HGNC HGNC:6858 protein_coding YES CCDS299.1 ENSP00000419591 O95382 UPI0000205587 NM_004672.4 26/29 HIGH SNV 5 1 PASS ACC . . 27356589 KLF18 . GRCh38 chr1 44139273 44139273 + Missense_Mutation SNP G G A rs1404699359 7316-278 BS_YVRSCEC6 G G c.2359C>T p.Pro787Ser p.P787S ENST00000634670 1/2 31 17 8 36 33 1 KLF18,missense_variant,p.Pro787Ser,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; A ENSG00000283039 ENST00000634670 Transcript missense_variant 2359/3159 2359/3159 787/1052 P/S Ccc/Tcc rs1404699359 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.5) benign(0) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GGG . . 44139273 RPTN . GRCh38 chr1 152155673 152155673 + Missense_Mutation SNP T T C rs201369314 7316-278 BS_YVRSCEC6 T T c.1426A>G p.Ser476Gly p.S476G ENST00000316073 3/3 49 32 8 29 28 0 RPTN,missense_variant,p.Ser476Gly,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; C ENSG00000215853 ENST00000316073 Transcript missense_variant 1491/3569 1426/2355 476/784 S/G Agt/Ggt rs201369314 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0.0002 0.001 MODERATE 1 SNV 1 PASS CTG . . 3.663e-05 2.983e-05 0.0004068 4.485e-05 152155673 FLG2 . GRCh38 chr1 152351448 152351448 + Missense_Mutation SNP A A C rs752116417 7316-278 BS_YVRSCEC6 A A c.6338T>G p.Val2113Gly p.V2113G ENST00000388718 3/3 75 57 15 49 48 1 FLG2,missense_variant,p.Val2113Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 6411/9124 6338/7176 2113/2391 V/G gTg/gGg rs752116417,COSM4435986 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.3) benign(0.04) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS CAC . . 2.055e-05 6.246e-05 2.693e-05 152351448 FLG2 . GRCh38 chr1 152351463 152351463 + Missense_Mutation SNP G G T rs756165212 7316-278 BS_YVRSCEC6 G G c.6323C>A p.Ser2108Tyr p.S2108Y ENST00000388718 3/3 76 60 12 51 50 1 FLG2,missense_variant,p.Ser2108Tyr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 6396/9124 6323/7176 2108/2391 S/Y tCc/tAc rs756165212,COSM6233728 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.09) benign(0.041) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GGA . . 1.321e-05 3.59e-05 1.872e-05 152351463 FLG2 . GRCh38 chr1 152351481 152351481 + Missense_Mutation SNP C C G rs758338715 7316-278 BS_YVRSCEC6 C C c.6305G>C p.Gly2102Ala p.G2102A ENST00000388718 3/3 70 55 9 48 46 0 FLG2,missense_variant,p.Gly2102Ala,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 6378/9124 6305/7176 2102/2391 G/A gGa/gCa rs758338715,COSM6235340 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 deleterious(0.03) possibly_damaging(0.766) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS TCC . . 4.09e-06 3.078e-05 152351481 F5 . GRCh38 chr1 169541161 169541161 + Missense_Mutation SNP G G C rs879158814 7316-278 BS_YVRSCEC6 G G c.3929C>G p.Thr1310Arg p.T1310R ENST00000367797 13/25 41 34 5 32 30 0 F5,missense_variant,p.Thr1315Arg,ENST00000367796,;F5,missense_variant,p.Thr1310Arg,ENST00000367797,NM_000130.4; C ENSG00000198734 ENST00000367797 Transcript missense_variant 4131/7024 3929/6675 1310/2224 T/R aCa/aGa rs879158814 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(0.09) possibly_damaging(0.462) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199 MODERATE 1 SNV 1 1 PASS TGT . . 169541161 ZNF648 . GRCh38 chr1 182056768 182056768 + Missense_Mutation SNP A A T rs1234475620 7316-278 BS_YVRSCEC6 A A c.1243T>A p.Ser415Thr p.S415T ENST00000339948 2/2 80 74 6 42 40 0 ZNF648,missense_variant,p.Ser415Thr,ENST00000339948,NM_001009992.1;,regulatory_region_variant,,ENSR00000016664,; T ENSG00000179930 ENST00000339948 Transcript missense_variant 1451/3649 1243/1707 415/568 S/T Tcg/Acg rs1234475620,COSM6209606 1 -1 ZNF648 HGNC HGNC:18190 protein_coding YES CCDS30952.1 ENSP00000344129 Q5T619 UPI0000161414 NM_001009992.1 tolerated(0.62) benign(0.02) 2/2 PROSITE_profiles:PS50157,hmmpanther:PTHR45320,Gene3D:2.40.155.10,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 182056768 PRG4 . GRCh38 chr1 186306831 186306831 + Missense_Mutation SNP T T C rs762401118 7316-278 BS_YVRSCEC6 T T c.1112T>C p.Ile371Thr p.I371T ENST00000445192 7/13 48 34 6 32 29 0 PRG4,missense_variant,p.Ile371Thr,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Ile330Thr,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Ile328Thr,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Ile278Thr,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Ile237Thr,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,; C ENSG00000116690 ENST00000445192 Transcript missense_variant 1157/5044 1112/4215 371/1404 I/T aTc/aCc rs762401118 1 1 PRG4 HGNC HGNC:9364 protein_coding YES CCDS1369.1 ENSP00000399679 Q92954 UPI0004620CBB NM_005807.4 tolerated(0.79) benign(0) 7/13 hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,mobidb-lite MODERATE SNV 5 1 PASS ATC . . 6.509e-05 8.972e-06 0.0004874 186306831 ERVMER61-1 . GRCh38 chr1 187073026 187073026 + Splice_Site SNP T T G rs191143625 7316-278 BS_YVRSCEC6 T T n.512+2T>G ENST00000609113 49 36 9 37 36 0 ERVMER61-1,splice_donor_variant,,ENST00000609113,;ERVMER61-1,splice_donor_variant,,ENST00000643891,;ERVMER61-1,splice_donor_variant,,ENST00000645691,;,regulatory_region_variant,,ENSR00000017322,; G ENSG00000230426 ENST00000609113 Transcript splice_donor_variant,non_coding_transcript_variant rs191143625 1 1 ERVMER61-1 HGNC HGNC:27919 lincRNA 1/4 0.0457 0.1097 0.0317 0.0446 0.0109 0.0061 HIGH SNV PASS GTG . . 187073026 ATP6V1C2 . GRCh38 chr2 10726501 10726501 + Splice_Site SNP G G A rs183059615 7316-278 BS_YVRSCEC6 G G c.130-1G>A p.X44_splice ENST00000272238 78 40 37 50 50 0 ATP6V1C2,splice_acceptor_variant,,ENST00000272238,NM_001039362.1;ATP6V1C2,splice_acceptor_variant,,ENST00000381661,NM_144583.3;ATP6V1C2,splice_acceptor_variant,,ENST00000635370,; A ENSG00000143882 ENST00000272238 Transcript splice_acceptor_variant rs183059615 1 1 ATP6V1C2 HGNC HGNC:18264 protein_coding YES CCDS42653.1 ENSP00000272238 Q8NEY4 UPI0000208E71 NM_001039362.1 2/13 0.0002 0.001 HIGH 1 SNV 5 PASS AGG . . 1.219e-05 0.0001307 8.967e-06 10726501 TTN . GRCh38 chr2 178652540 178652540 + Splice_Region SNP C C T novel 7316-278 BS_YVRSCEC6 C C c.39045G>A p.Val13015= p.V13015= ENST00000589042 202/363 86 73 9 33 32 0 TTN,splice_region_variant,p.Val13015=,ENST00000589042,NM_001267550.2;TTN,splice_region_variant,p.Val11508=,ENST00000591111,;TTN,splice_region_variant,p.Val11508=,ENST00000615779,NM_001256850.1;TTN,splice_region_variant,p.Val10581=,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; T ENSG00000155657 ENST00000589042 Transcript splice_region_variant,synonymous_variant 39270/109224 39045/107976 13015/35991 V gtG/gtA 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 202/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg LOW 1 SNV 5 1 PASS GCA . . 178652540 TTN . GRCh38 chr2 178652698 178652698 + Missense_Mutation SNP C C T rs777877044 7316-278 BS_YVRSCEC6 C C c.38998G>A p.Val13000Met p.V13000M ENST00000589042 201/363 73 61 10 30 30 0 TTN,missense_variant,p.Val13000Met,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; T ENSG00000155657 ENST00000589042 Transcript missense_variant 39223/109224 38998/107976 13000/35991 V/M Gtg/Atg rs777877044 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 unknown(0) 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ACT . . 8.207e-06 1.819e-05 178652698 DNER . GRCh38 chr2 229591817 229591819 + In_Frame_Del DEL GCT GCT - rs772975475 7316-278 BS_YVRSCEC6 GCT GCT c.346_348del p.Ser116del p.S116del ENST00000341772 2/13 60 53 5 32 30 0 DNER,inframe_deletion,p.Ser116del,ENST00000341772,NM_139072.3;DNER,upstream_gene_variant,,ENST00000482831,; - ENSG00000187957 ENST00000341772 Transcript inframe_deletion 481-483/3260 346-348/2214 116/737 S/- AGC/- rs772975475,COSM5082962 1 -1 DNER HGNC HGNC:24456 protein_coding YES CCDS33390.1 ENSP00000345229 Q8NFT8 UPI0000048EB8 NM_139072.3 2/13 Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR44868,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196,Low_complexity_(Seg):seg 0,1 MODERATE 1 deletion 1 0,1 PASS TCGCTG . . 0.01008 0.007698 0.0122 0.01211 0.009651 0.006574 0.00923 0.009534 0.01478 229591816 PLCD1 . GRCh38 chr3 38010479 38010479 + Missense_Mutation SNP G A A rs761747360 7316-278 BS_YVRSCEC6 G G c.937C>T p.Arg313Cys p.R313C ENST00000463876 6/15 71 5 65 26 26 0 PLCD1,missense_variant,p.Arg313Cys,ENST00000463876,NM_001130964.1;PLCD1,missense_variant,p.Arg292Cys,ENST00000334661,NM_006225.3;VILL,downstream_gene_variant,,ENST00000283713,;VILL,downstream_gene_variant,,ENST00000383759,NM_015873.3;VILL,downstream_gene_variant,,ENST00000465644,;RF00019,upstream_gene_variant,,ENST00000363709,;PLCD1,downstream_gene_variant,,ENST00000479619,;PLCD1,non_coding_transcript_exon_variant,,ENST00000461445,;PLCD1,upstream_gene_variant,,ENST00000417185,;PLCD1,upstream_gene_variant,,ENST00000484829,;VILL,downstream_gene_variant,,ENST00000486616,;VILL,downstream_gene_variant,,ENST00000488209,;PLCD1,upstream_gene_variant,,ENST00000495367,;PLCD1,upstream_gene_variant,,ENST00000495395,; A ENSG00000187091 ENST00000463876 Transcript missense_variant 1291/2963 937/2334 313/777 R/C Cgc/Tgc rs761747360 1 -1 PLCD1 HGNC HGNC:9060 protein_coding YES CCDS46793.1 ENSP00000430344 P51178 UPI00003E2810 NM_001130964.1 tolerated(0.05) possibly_damaging(0.892) 6/15 Gene3D:1.10.238.10,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF80,Superfamily_domains:SSF47473 MODERATE SNV 2 1 PASS CGG . . 4.068e-06 8.968e-06 38010479 SEMA3B . GRCh38 chr3 50274355 50274355 + Splice_Region SNP A A C novel 7316-278 BS_YVRSCEC6 A A c.1153-8A>C ENST00000611067 53 43 6 41 40 1 SEMA3B,splice_region_variant,,ENST00000418576,;SEMA3B,splice_region_variant,,ENST00000433753,NM_001005914.2;SEMA3B,splice_region_variant,,ENST00000456560,NM_001290062.1,NM_001290063.1;SEMA3B,splice_region_variant,,ENST00000611067,NM_001290061.1;SEMA3B,splice_region_variant,,ENST00000616701,NM_001290060.1;SEMA3B,splice_region_variant,,ENST00000618865,NM_004636.3;LSMEM2,upstream_gene_variant,,ENST00000316436,NM_001304385.1,NM_153215.2;SEMA3B,downstream_gene_variant,,ENST00000621029,;MIR6872,downstream_gene_variant,,ENST00000612981,;SEMA3B,splice_region_variant,,ENST00000456210,;SEMA3B,splice_region_variant,,ENST00000439487,;SEMA3B,splice_region_variant,,ENST00000441915,;SEMA3B,splice_region_variant,,ENST00000619119,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000419007,;SEMA3B,upstream_gene_variant,,ENST00000416295,;SEMA3B,downstream_gene_variant,,ENST00000434030,;SEMA3B,downstream_gene_variant,,ENST00000612509,;,regulatory_region_variant,,ENSR00000152335,;,regulatory_region_variant,,ENSR00000303974,;,TF_binding_site_variant,,MA0162.2,; C ENSG00000012171 ENST00000611067 Transcript splice_region_variant,intron_variant 1 1 SEMA3B HGNC HGNC:10724 protein_coding YES CCDS77743.1 ENSP00000480680 A0A0C4DGV8 UPI000007272A NM_001290061.1 10/16 LOW 1 SNV 1 PASS CAC . . 50274355 BAP1 . GRCh38 chr3 52408560 52408560 + Missense_Mutation SNP G A A novel 7316-278 BS_YVRSCEC6 G G c.169C>T p.Arg57Trp p.R57W ENST00000460680 4/17 66 4 60 32 31 0 BAP1,missense_variant,p.Arg57Trp,ENST00000460680,NM_004656.3;BAP1,missense_variant,p.Arg57Trp,ENST00000296288,;BAP1,5_prime_UTR_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000327906,NM_001321126.1,NM_001321127.1,NM_016483.6;PHF7,upstream_gene_variant,,ENST00000347025,NM_001278221.2;BAP1,upstream_gene_variant,,ENST00000469613,;BAP1,upstream_gene_variant,,ENST00000478368,;PHF7,upstream_gene_variant,,ENST00000614886,;PHF7,upstream_gene_variant,,ENST00000615126,;PHF7,upstream_gene_variant,,ENST00000472337,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,;BAP1,intron_variant,,ENST00000490917,;BAP1,upstream_gene_variant,,ENST00000471532,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,; A ENSG00000163930 ENST00000460680 Transcript missense_variant 641/3937 169/2190 57/729 R/W Cgg/Tgg 1 -1 BAP1 HGNC HGNC:950 protein_coding YES CCDS2853.1 ENSP00000417132 Q92560 A0A024R305 UPI0000071B3D NM_004656.3 deleterious(0.04) probably_damaging(1) 4/17 cd09617,hmmpanther:PTHR10589,hmmpanther:PTHR10589:SF28,Gene3D:3.40.532.10,Pfam_domain:PF01088,Superfamily_domains:SSF54001 MODERATE 1 SNV 1 1 PASS CGG . . 52408560 TM4SF18 . GRCh38 chr3 149333360 149333360 + Missense_Mutation SNP C C A novel 7316-278 BS_YVRSCEC6 C C c.23G>T p.Gly8Val p.G8V ENST00000296059 2/6 125 85 38 43 43 0 TM4SF18,missense_variant,p.Gly8Val,ENST00000296059,NM_138786.3;TM4SF18,missense_variant,p.Gly8Val,ENST00000470080,NM_001184723.1;TM4SF18,missense_variant,p.Gly8Val,ENST00000474754,;AC093001.1,intron_variant,,ENST00000489011,;TM4SF18,non_coding_transcript_exon_variant,,ENST00000491182,;TM4SF18,upstream_gene_variant,,ENST00000468398,; A ENSG00000163762 ENST00000296059 Transcript missense_variant 289/3852 23/606 8/201 G/V gGc/gTc 1 -1 TM4SF18 HGNC HGNC:25181 protein_coding YES CCDS3142.1 ENSP00000296059 Q96CE8 UPI000006F129 NM_138786.3 tolerated(0.11) benign(0.123) 2/6 Transmembrane_helices:TMhelix,hmmpanther:PTHR14198:SF14,hmmpanther:PTHR14198,Pfam_domain:PF05805 MODERATE 1 SNV 1 PASS GCC . . 149333360 MUC4 . GRCh38 chr3 195782972 195782972 + Missense_Mutation SNP C C T rs200739317 7316-278 BS_YVRSCEC6 C C c.8608G>A p.Ala2870Thr p.A2870T ENST00000463781 2/25 54 34 6 25 22 0 MUC4,missense_variant,p.Ala2870Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala2870Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala2870Thr,ENST00000478156,;MUC4,missense_variant,p.Ala2870Thr,ENST00000466475,;MUC4,missense_variant,p.Ala2870Thr,ENST00000477756,;MUC4,missense_variant,p.Ala2870Thr,ENST00000477086,;MUC4,missense_variant,p.Ala2870Thr,ENST00000480843,;MUC4,missense_variant,p.Ala2870Thr,ENST00000462323,;MUC4,missense_variant,p.Ala2870Thr,ENST00000470451,;MUC4,missense_variant,p.Ala2870Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 9068/17110 8608/16239 2870/5412 A/T Gct/Act rs200739317,COSM1617364 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.61) benign(0.086) 2/25 mobidb-lite,hmmpanther:PTHR42668,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCG . . 0.005414 0.05706 0.005373 0.001948 0.0007493 0.001569 0.002162 0.00492 0.005711 195782972 MUC4 . GRCh38 chr3 195785294 195785294 + Missense_Mutation SNP A A G rs201142505 7316-278 BS_YVRSCEC6 A A c.6286T>C p.Ser2096Pro p.S2096P ENST00000463781 2/25 101 75 18 44 42 1 MUC4,missense_variant,p.Ser2096Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser2096Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser2096Pro,ENST00000478156,;MUC4,missense_variant,p.Ser2096Pro,ENST00000466475,;MUC4,missense_variant,p.Ser2096Pro,ENST00000477756,;MUC4,missense_variant,p.Ser2096Pro,ENST00000477086,;MUC4,missense_variant,p.Ser2096Pro,ENST00000480843,;MUC4,missense_variant,p.Ser2096Pro,ENST00000462323,;MUC4,missense_variant,p.Ser2096Pro,ENST00000470451,;MUC4,missense_variant,p.Ser2096Pro,ENST00000479406,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 6746/17110 6286/16239 2096/5412 S/P Tct/Cct rs201142505,COSM2945980 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(1) benign(0.316) 2/25 hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GAG . . 0.0001264 0.0002946 0.0001008 0.0002557 5.898e-05 0.0001224 0.0002786 0.0001434 195785294 ZNF732 . GRCh38 chr4 271556 271556 + Missense_Mutation SNP T T C rs1024510867 7316-278 BS_YVRSCEC6 T T c.1301A>G p.Asn434Ser p.N434S ENST00000419098 4/4 76 61 10 40 39 0 ZNF732,missense_variant,p.Asn434Ser,ENST00000419098,NM_001137608.1;ZNF732,missense_variant,p.Asn433Ser,ENST00000619749,;AC079140.5,upstream_gene_variant,,ENST00000507882,;AC079140.3,upstream_gene_variant,,ENST00000511111,; C ENSG00000186777 ENST00000419098 Transcript missense_variant 1312/2193 1301/1758 434/585 N/S aAt/aGt rs1024510867 1 -1 ZNF732 HGNC HGNC:37138 protein_coding YES CCDS46990.1 ENSP00000415774 B4DXR9 UPI00017A8291 NM_001137608.1 tolerated(0.21) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF81,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS ATT . . 271556 ZNF732 . GRCh38 chr4 271563 271563 + Missense_Mutation SNP C C A rs1358664511 7316-278 BS_YVRSCEC6 C C c.1294G>T p.Asp432Tyr p.D432Y ENST00000419098 4/4 78 68 8 37 37 0 ZNF732,missense_variant,p.Asp432Tyr,ENST00000419098,NM_001137608.1;ZNF732,missense_variant,p.Asp431Tyr,ENST00000619749,;AC079140.5,upstream_gene_variant,,ENST00000507882,;AC079140.3,upstream_gene_variant,,ENST00000511111,; A ENSG00000186777 ENST00000419098 Transcript missense_variant 1305/2193 1294/1758 432/585 D/Y Gac/Tac rs1358664511,COSM3133704 1 -1 ZNF732 HGNC HGNC:37138 protein_coding YES CCDS46990.1 ENSP00000415774 B4DXR9 UPI00017A8291 NM_001137608.1 tolerated(0.87) benign(0.352) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF81,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TCT . . 271563 NWD2 . GRCh38 chr4 37446694 37446694 + Missense_Mutation SNP G G A rs151044727 7316-278 BS_YVRSCEC6 G G c.4706G>A p.Arg1569Gln p.R1569Q ENST00000309447 7/7 65 23 40 61 59 0 NWD2,missense_variant,p.Arg1569Gln,ENST00000309447,NM_001144990.1; A ENSG00000174145 ENST00000309447 Transcript missense_variant 5554/8325 4706/5229 1569/1742 R/Q cGg/cAg rs151044727 1 1 NWD2 HGNC HGNC:29229 protein_coding YES CCDS47040.1 ENSP00000309501 Q9ULI1 UPI00006C0875 NM_001144990.1 tolerated(0.33) benign(0.162) 7/7 hmmpanther:PTHR19857,hmmpanther:PTHR19857:SF18,Gene3D:2.130.10.10,Superfamily_domains:SSF82171 0.0004 0.002 MODERATE 1 SNV 5 PASS CGG . . 0.0001322 0.001855 0.0002587 37446694 ITGA1 . GRCh38 chr5 52898267 52898267 + Missense_Mutation SNP C C G novel 7316-278 BS_YVRSCEC6 C C c.1193C>G p.Ala398Gly p.A398G ENST00000282588 11/29 80 45 35 51 49 0 ITGA1,missense_variant,p.Ala398Gly,ENST00000282588,NM_181501.1;ITGA1,upstream_gene_variant,,ENST00000504669,; G ENSG00000213949 ENST00000282588 Transcript missense_variant 1651/10757 1193/3540 398/1179 A/G gCc/gGc 1 1 ITGA1 HGNC HGNC:6134 protein_coding YES CCDS3955.1 ENSP00000282588 P56199 UPI00001A95E8 NM_181501.1 deleterious(0) probably_damaging(0.994) 11/29 Gene3D:2.130.10.130,Superfamily_domains:SSF69318,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22 MODERATE 1 SNV 1 PASS GCC . . 52898267 HLA-A . GRCh38 chr6 29943287 29943287 + Missense_Mutation SNP A A G rs1136695 7316-278 BS_YVRSCEC6 A A c.363A>G p.Ile121Met p.I121M ENST00000396634 5/10 43 29 12 27 26 1 HLA-A,missense_variant,p.Ile121Met,ENST00000396634,;HLA-A,missense_variant,p.Ile121Met,ENST00000376806,;HLA-A,missense_variant,p.Ile121Met,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.Ile121Met,ENST00000376802,;HLA-A,missense_variant,p.Ile121Met,ENST00000638375,;HLA-A,splice_region_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;,regulatory_region_variant,,ENSR00000195346,;AL671277.1,upstream_gene_variant,,ENST00000429656,; G ENSG00000206503 ENST00000396634 Transcript missense_variant 704/1868 363/1098 121/365 I/M atA/atG rs1136695,COSM5019445,COSM4160516 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D tolerated_low_confidence(0.17) benign(0.003) 5/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675,Prints_domain:PR01638 0.6611 0.6467 0.768 0.6865 0.6292 0.6115 0.5418 0.4551 0,1,1 MODERATE 1 SNV 0,1,1 1 PASS TAA . . 0.596 0.6299 0.7875 0.6454 0.6484 0.5387 0.5244 0.586 0.5904 29943287 MDC1 . GRCh38 chr6 30704981 30704981 + Missense_Mutation SNP C C A rs748601560 7316-278 BS_YVRSCEC6 C C c.4202G>T p.Gly1401Val p.G1401V ENST00000376406 10/15 55 35 11 28 25 0 MDC1,missense_variant,p.Gly1401Val,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4850/7576 4202/6270 1401/2089 G/V gGc/gTc rs748601560 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GCC . . 0.007351 0.01338 0.01103 0.003108 0.01969 0.0009711 0.005031 0.01102 0.009859 30704981 MDC1 . GRCh38 chr6 30705336 30705336 + Missense_Mutation SNP G G T rs79216909 7316-278 BS_YVRSCEC6 G G c.3847C>A p.Pro1283Thr p.P1283T ENST00000376406 10/15 88 66 21 42 40 0 MDC1,missense_variant,p.Pro1283Thr,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 4495/7576 3847/6270 1283/2089 P/T Cca/Aca rs79216909,COSM1235523,COSM1235522 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(0.06) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 0.0457 0.0295 0.0231 0.0635 0.0239 0.0879 0.02678 0.02047 0,1,1 MODERATE SNV 5 0,1,1 PASS GGT . . 0.01363 0.004301 0.007925 0.02249 0.04023 0.005426 0.007551 0.01843 0.03559 30705336 MUC22 . GRCh38 chr6 31027644 31027644 + Missense_Mutation SNP C C T novel 7316-278 BS_YVRSCEC6 C C c.2213C>T p.Ala738Val p.A738V ENST00000561890 2/4 92 71 10 59 55 0 MUC22,missense_variant,p.Ala738Val,ENST00000561890,NM_001198815.1,NM_001318484.1; T ENSG00000261272 ENST00000561890 Transcript missense_variant 2446/6019 2213/5322 738/1773 A/V gCc/gTc 1 1 MUC22 HGNC HGNC:39755 protein_coding YES CCDS59003.1 ENSP00000455906 E2RYF6 UPI0001E92A31 NM_001198815.1,NM_001318484.1 tolerated(0.78) unknown(0) 2/4 Low_complexity_(Seg):seg,hmmpanther:PTHR37000 MODERATE 1 SNV 2 PASS GCC . . 31027644 HLA-C . GRCh38 chr6 31272025 31272025 + Missense_Mutation SNP C C G rs1050451 7316-278 BS_YVRSCEC6 C C c.47G>C p.Gly16Ala p.G16A ENST00000376228 1/8 60 52 6 22 21 0 HLA-C,missense_variant,p.Gly16Ala,ENST00000383329,;HLA-C,missense_variant,p.Gly16Ala,ENST00000376228,NM_002117.5;HLA-C,missense_variant,p.Gly16Ala,ENST00000415537,;HLA-C,5_prime_UTR_variant,,ENST00000640219,;HLA-B,intron_variant,,ENST00000640615,;HLA-C,missense_variant,p.Gly16Ala,ENST00000376237,;HLA-C,non_coding_transcript_exon_variant,,ENST00000487245,;HLA-C,non_coding_transcript_exon_variant,,ENST00000495835,;HLA-C,non_coding_transcript_exon_variant,,ENST00000484378,;HLA-C,upstream_gene_variant,,ENST00000466892,;HLA-C,upstream_gene_variant,,ENST00000470363,;,regulatory_region_variant,,ENSR00000195522,;USP8P1,upstream_gene_variant,,ENST00000494673,; G ENSG00000204525 ENST00000376228 Transcript missense_variant 62/1536 47/1101 16/366 G/A gGc/gCc rs1050451,COSM4160773,COSM4160772,COSM4160771 1 -1 HLA-C HGNC HGNC:4933 protein_coding YES CCDS34393.1 ENSP00000365402 P10321 Q6R739 UPI000008AEBB NM_002117.5 tolerated_low_confidence(1) benign(0) 1/8 hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF186,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0.7782 0.7867 0.8184 0.8135 0.7266 0.7546 0.7578 0.6857 0,1,1,1 28878392,28955865 MODERATE 1 SNV 1,1,1,1 1 PASS GCC . . 0.7312 0.7794 0.7537 0.8718 0.8051 0.7161 0.6879 0.7517 0.7582 31272025 HLA-C . GRCh38 chr6 31272050 31272050 + Missense_Mutation SNP C C T rs2308525 7316-278 BS_YVRSCEC6 C C c.22G>A p.Ala8Thr p.A8T ENST00000376228 1/8 63 57 6 22 21 0 HLA-C,missense_variant,p.Ala8Thr,ENST00000383329,;HLA-C,missense_variant,p.Ala8Thr,ENST00000376228,NM_002117.5;HLA-C,missense_variant,p.Ala8Thr,ENST00000415537,;HLA-C,5_prime_UTR_variant,,ENST00000640219,;HLA-B,intron_variant,,ENST00000640615,;HLA-C,missense_variant,p.Ala8Thr,ENST00000376237,;HLA-C,non_coding_transcript_exon_variant,,ENST00000487245,;HLA-C,non_coding_transcript_exon_variant,,ENST00000495835,;HLA-C,non_coding_transcript_exon_variant,,ENST00000484378,;HLA-C,upstream_gene_variant,,ENST00000466892,;HLA-C,upstream_gene_variant,,ENST00000470363,;,regulatory_region_variant,,ENSR00000195522,;USP8P1,upstream_gene_variant,,ENST00000494673,; T ENSG00000204525 ENST00000376228 Transcript missense_variant 37/1536 22/1101 8/366 A/T Gcc/Acc rs2308525,COSM4160779,COSM4160778,COSM4160777 1 -1 HLA-C HGNC HGNC:4933 protein_coding YES CCDS34393.1 ENSP00000365402 P10321 Q6R739 UPI000008AEBB NM_002117.5 tolerated_low_confidence(1) benign(0) 1/8 PDB-ENSP_mappings:3bzf.P,PDB-ENSP_mappings:3bzf.Q,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF186,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0.7532 0.7095 0.8026 0.8135 0.7157 0.7536 0.6914 0.6785 0,1,1,1 MODERATE 1 SNV 0,1,1,1 1 PASS GCT . . 0.7181 0.7087 0.7427 0.8416 0.8037 0.7104 0.6787 0.7326 0.7506 31272050 FAM120B . GRCh38 chr6 170318489 170318489 + Missense_Mutation SNP G G A rs748384723 7316-278 BS_YVRSCEC6 G G c.1168G>A p.Val390Met p.V390M ENST00000537664 2/11 89 66 12 37 35 0 FAM120B,missense_variant,p.Val367Met,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Val379Met,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Val390Met,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; A ENSG00000112584 ENST00000537664 Transcript missense_variant 1253/3212 1168/2802 390/933 V/M Gtg/Atg rs748384723 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(0.65) benign(0) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 MODERATE 1 SNV 2 PASS CGT . . 2.504e-05 0.0001268 9.064e-06 3.378e-05 170318489 RAPGEF5 . GRCh38 chr7 22131033 22131033 + Splice_Region SNP G G A rs367909478 7316-278 BS_YVRSCEC6 G G c.2022+4C>T ENST00000344041 82 52 29 43 38 1 RAPGEF5,splice_region_variant,,ENST00000344041,NM_012294.3;RAPGEF5,splice_region_variant,,ENST00000401957,;RAPGEF5,splice_region_variant,,ENST00000620335,;RAPGEF5,splice_region_variant,,ENST00000488366,; A ENSG00000136237 ENST00000344041 Transcript splice_region_variant,intron_variant rs367909478,COSM5517865,COSM5517864 1 -1 RAPGEF5 HGNC HGNC:16862 protein_coding YES CCDS55093.1 ENSP00000343656 A8MQ07 UPI0000EA87E4 NM_012294.3 24/25 0.0002 0.0008 0.0003016 0,1,1 LOW 1 SNV 5 0,1,1 PASS CGT . . 8.206e-05 0.0002622 0.0001334 6.014e-05 0.0002923 22131033 ZNF479 . GRCh38 chr7 57120249 57120249 + Missense_Mutation SNP T T G rs1227538973 7316-278 BS_YVRSCEC6 T T c.1166A>C p.Asp389Ala p.D389A ENST00000331162 5/5 51 38 12 35 34 1 ZNF479,missense_variant,p.Asp389Ala,ENST00000331162,NM_033273.2;ZNF479,missense_variant,p.Asp389Ala,ENST00000319636,;ZNF479,missense_variant,p.Asp277Ala,ENST00000620639,; G ENSG00000185177 ENST00000331162 Transcript missense_variant 1437/2072 1166/1575 389/524 D/A gAc/gCc rs1227538973,COSM400678 1 -1 ZNF479 HGNC HGNC:23258 protein_coding YES CCDS43590.1 ENSP00000333776 Q96JC4 UPI000006E615 NM_033273.2 tolerated(1) benign(0) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF179,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTC . . 57120249 ZNF727 . GRCh38 chr7 64078278 64078278 + Missense_Mutation SNP A A C 7316-278 BS_YVRSCEC6 A A c.1229A>C p.Asn410Thr p.N410T ENST00000456806 4/4 55 41 6 36 35 1 ZNF727,missense_variant,p.Asn410Thr,ENST00000456806,NM_001159522.1; C ENSG00000214652 ENST00000456806 Transcript missense_variant 1408/1679 1229/1500 410/499 N/T aAc/aCc COSM5636960,COSM3833069 1 1 ZNF727 HGNC HGNC:22785 protein_coding YES CCDS55113.1 ENSP00000485448 A8MUV8 UPI0001A23134 NM_001159522.1 tolerated(1) benign(0.011) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF98,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 4 1,1 PASS AAC . . 64078278 ZNF735 . GRCh38 chr7 64219935 64219935 + Missense_Mutation SNP G G A rs1468894763 7316-278 BS_YVRSCEC6 G G c.884G>A p.Arg295Lys p.R295K ENST00000429565 4/4 67 56 10 30 29 0 ZNF735,missense_variant,p.Arg295Lys,ENST00000429565,NM_001159524.1; A ENSG00000223614 ENST00000429565 Transcript missense_variant 997/1570 884/1239 295/412 R/K aGa/aAa rs1468894763 1 1 ZNF735 HGNC HGNC:32466 protein_coding YES CCDS78236.1 ENSP00000485547 P0CB33 UPI0001662441 NM_001159524.1 tolerated(1) benign(0.003) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF179,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS AGA . . 4.083e-06 9.016e-06 64219935 ZNF680 . GRCh38 chr7 64521298 64521298 + Missense_Mutation SNP T T C rs1181926193 7316-278 BS_YVRSCEC6 T T c.1456A>G p.Arg486Gly p.R486G ENST00000309683 4/4 80 69 7 56 55 1 ZNF680,missense_variant,p.Arg486Gly,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,downstream_gene_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,; C ENSG00000173041 ENST00000309683 Transcript missense_variant 1608/3022 1456/1593 486/530 R/G Aga/Gga rs1181926193,COSM6237887 1 -1 ZNF680 HGNC HGNC:26897 protein_coding YES CCDS34644.1 ENSP00000309330 Q8NEM1 UPI000019980A NM_178558.4 tolerated(1) benign(0) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF121,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CTA . . 4.072e-06 3.252e-05 64521298 ZNF680 . GRCh38 chr7 64521301 64521301 + Missense_Mutation SNP C C T rs867897241 7316-278 BS_YVRSCEC6 C C c.1453G>A p.Ala485Thr p.A485T ENST00000309683 4/4 82 67 11 56 56 0 ZNF680,missense_variant,p.Ala485Thr,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,downstream_gene_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,; T ENSG00000173041 ENST00000309683 Transcript missense_variant 1605/3022 1453/1593 485/530 A/T Gct/Act rs867897241,COSM4842996 1 -1 ZNF680 HGNC HGNC:26897 protein_coding YES CCDS34644.1 ENSP00000309330 Q8NEM1 UPI000019980A NM_178558.4 tolerated(1) benign(0.003) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF121,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GCA . . 64521301 ZNF92 . GRCh38 chr7 65399230 65399230 + Missense_Mutation SNP T T A rs200450265 7316-278 BS_YVRSCEC6 T T c.1116T>A p.Asp372Glu p.D372E ENST00000328747 4/4 90 66 19 48 47 0 ZNF92,missense_variant,p.Asp372Glu,ENST00000328747,NM_152626.3;ZNF92,missense_variant,p.Asp340Glu,ENST00000357512,NM_001287532.1;ZNF92,missense_variant,p.Asp303Glu,ENST00000450302,NM_007139.3;ZNF92,missense_variant,p.Asp296Glu,ENST00000431504,NM_001287534.1,NM_001287533.1;,regulatory_region_variant,,ENSR00000212862,; A ENSG00000146757 ENST00000328747 Transcript missense_variant 1315/3210 1116/1761 372/586 D/E gaT/gaA rs200450265,COSM351636 1 1 ZNF92 HGNC HGNC:13168 protein_coding YES CCDS34646.1 ENSP00000332595 Q03936 V9HVY7 UPI0000073CE6 NM_152626.3 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 8.418e-06 3.156e-05 9.163e-06 65399230 MUC17 . GRCh38 chr7 101033503 101033503 + Missense_Mutation SNP A A G rs755985561 7316-278 BS_YVRSCEC6 A A c.2087A>G p.Asn696Ser p.N696S ENST00000306151 3/13 55 41 10 51 49 1 MUC17,missense_variant,p.Asn696Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn696Ser,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 2151/14247 2087/13482 696/4493 N/S aAc/aGc rs755985561,COSM5763967 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 4.544e-06 3.526e-05 101033503 MUC17 . GRCh38 chr7 101033809 101033809 + Missense_Mutation SNP T T C rs775457824 7316-278 BS_YVRSCEC6 T T c.2393T>C p.Ile798Thr p.I798T ENST00000306151 3/13 68 52 13 51 50 1 MUC17,missense_variant,p.Ile798Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile798Thr,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 2457/14247 2393/13482 798/4493 I/T aTc/aCc rs775457824,COSM6239762 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS ATC . . 4.067e-06 5.804e-05 101033809 MUC17 . GRCh38 chr7 101038666 101038666 + Missense_Mutation SNP A A T rs139220229 7316-278 BS_YVRSCEC6 A A c.7250A>T p.His2417Leu p.H2417L ENST00000306151 3/13 63 54 7 43 41 0 MUC17,missense_variant,p.His2417Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.His2417Leu,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 7314/14247 7250/13482 2417/4493 H/L cAt/cTt rs139220229,COSM4161663 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 1.736e-05 0.0001985 9.3e-06 101038666 MUC17 . GRCh38 chr7 101039332 101039332 + Missense_Mutation SNP T T C rs761806055 7316-278 BS_YVRSCEC6 T T c.7916T>C p.Leu2639Pro p.L2639P ENST00000306151 3/13 73 64 8 46 44 0 MUC17,missense_variant,p.Leu2639Pro,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Leu2639Pro,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 7980/14247 7916/13482 2639/4493 L/P cTt/cCt rs761806055 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.001) 3/13 hmmpanther:PTHR37999,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTT . . 0.000782 0.0001335 0.003748 0.0002063 4.509e-05 0.0004825 0.001142 0.0001669 101039332 BPGM . GRCh38 chr7 134661967 134661967 + Missense_Mutation SNP C C T rs1342185498 7316-278 BS_YVRSCEC6 C C c.460C>T p.Arg154Trp p.R154W ENST00000393132 3/4 86 46 38 47 47 0 BPGM,missense_variant,p.Arg154Trp,ENST00000393132,NM_199186.2;BPGM,missense_variant,p.Arg154Trp,ENST00000418040,NM_001293085.1;BPGM,missense_variant,p.Arg154Trp,ENST00000344924,NM_001724.4;BPGM,downstream_gene_variant,,ENST00000443095,; T ENSG00000172331 ENST00000393132 Transcript missense_variant 949/2051 460/780 154/259 R/W Cgg/Tgg rs1342185498,COSM5440111 1 1 BPGM HGNC HGNC:1093 protein_coding YES CCDS5833.1 ENSP00000376840 P07738 A0A024R782 UPI0000163BD9 NM_199186.2 tolerated(0.05) possibly_damaging(0.72) 3/4 PDB-ENSP_mappings:1t8p.A,PDB-ENSP_mappings:1t8p.B,PDB-ENSP_mappings:2a9j.A,PDB-ENSP_mappings:2a9j.B,PDB-ENSP_mappings:2f90.A,PDB-ENSP_mappings:2f90.B,PDB-ENSP_mappings:2h4x.A,PDB-ENSP_mappings:2h4x.B,PDB-ENSP_mappings:2h4z.A,PDB-ENSP_mappings:2h4z.B,PDB-ENSP_mappings:2h52.A,PDB-ENSP_mappings:2h52.B,PDB-ENSP_mappings:2hhj.A,PDB-ENSP_mappings:2hhj.B,PDB-ENSP_mappings:3nfy.A,PDB-ENSP_mappings:3nfy.B,HAMAP:MF_01039,cd07067,hmmpanther:PTHR11931,hmmpanther:PTHR11931:SF11,Pfam_domain:PF00300,PIRSF_domain:PIRSF000709,TIGRFAM_domain:TIGR01258,Gene3D:3.40.50.1240,SMART_domains:SM00855,Superfamily_domains:SSF53254 0,1 MODERATE 1 SNV 5 0,1 1 PASS ACG . . 8.127e-06 2.981e-05 8.959e-06 134661967 RP1L1 . GRCh38 chr8 10607913 10607913 + Missense_Mutation SNP T T C rs1319096641 7316-278 BS_YVRSCEC6 T T c.6185A>G p.Glu2062Gly p.E2062G ENST00000382483 4/4 62 48 7 36 33 0 RP1L1,missense_variant,p.Glu2062Gly,ENST00000382483,NM_178857.5; C ENSG00000183638 ENST00000382483 Transcript missense_variant 6409/7973 6185/7203 2062/2400 E/G gAg/gGg rs1319096641 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(0.23) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 MODERATE 1 SNV 1 1 PASS CTC . . 4.062e-06 2.978e-05 10607913 RP1L1 . GRCh38 chr8 10608556 10608556 + Missense_Mutation SNP A A T novel 7316-278 BS_YVRSCEC6 A A c.5542T>A p.Ser1848Thr p.S1848T ENST00000382483 4/4 79 60 9 34 32 0 RP1L1,missense_variant,p.Ser1848Thr,ENST00000382483,NM_178857.5; T ENSG00000183638 ENST00000382483 Transcript missense_variant 5766/7973 5542/7203 1848/2400 S/T Tca/Aca 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated(0.27) benign(0.031) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 MODERATE 1 SNV 1 1 PASS GAC . . 10608556 PLAT . GRCh38 chr8 42181981 42181981 + Missense_Mutation SNP T T C rs115367577 7316-278 BS_YVRSCEC6 T T c.845A>G p.Lys282Arg p.K282R ENST00000220809 9/14 90 29 60 46 45 0 PLAT,missense_variant,p.Lys282Arg,ENST00000220809,NM_000930.4;PLAT,missense_variant,p.Lys282Arg,ENST00000429089,;PLAT,missense_variant,p.Lys236Arg,ENST00000352041,NM_033011.3;PLAT,missense_variant,p.Lys219Arg,ENST00000519510,;PLAT,missense_variant,p.Lys156Arg,ENST00000429710,;PLAT,missense_variant,p.Lys193Arg,ENST00000524009,NM_001319189.1;PLAT,3_prime_UTR_variant,,ENST00000521042,;PLAT,downstream_gene_variant,,ENST00000521647,;PLAT,upstream_gene_variant,,ENST00000522812,;PLAT,downstream_gene_variant,,ENST00000524261,; C ENSG00000104368 ENST00000220809 Transcript missense_variant 1102/2706 845/1689 282/562 K/R aAg/aGg rs115367577 1 -1 PLAT HGNC HGNC:9051 protein_coding YES CCDS6126.1 ENSP00000220809 P00750 UPI0000000DD4 NM_000930.4 tolerated(0.13) probably_damaging(0.974) 9/14 Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001145,PROSITE_profiles:PS50070,hmmpanther:PTHR44617,SMART_domains:SM00130,Superfamily_domains:SSF57440,cd00108 0.0002 0.001 MODERATE 1 SNV 1 1 PASS CTT . . 0.0001584 0.002261 42181981 PABPC1 . GRCh38 chr8 100709464 100709464 + Missense_Mutation SNP G G A rs796192778 7316-278 BS_YVRSCEC6 G G c.1240C>T p.Pro414Ser p.P414S ENST00000318607 8/15 68 60 6 51 51 0 PABPC1,missense_variant,p.Pro414Ser,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Pro369Ser,ENST00000519004,;PABPC1,missense_variant,p.Pro382Ser,ENST00000522387,;PABPC1,missense_variant,p.Pro389Ser,ENST00000610907,;PABPC1,missense_variant,p.Pro283Ser,ENST00000519100,;PABPC1,missense_variant,p.Pro67Ser,ENST00000517403,;PABPC1,upstream_gene_variant,,ENST00000517990,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,upstream_gene_variant,,ENST00000520868,;PABPC1,upstream_gene_variant,,ENST00000522658,;PABPC1,downstream_gene_variant,,ENST00000523555,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519596,;PABPC1,missense_variant,p.Pro105Ser,ENST00000523636,;PABPC1,3_prime_UTR_variant,,ENST00000519622,;PABPC1,non_coding_transcript_exon_variant,,ENST00000518716,;PABPC1,downstream_gene_variant,,ENST00000517921,;PABPC1,upstream_gene_variant,,ENST00000519848,; A ENSG00000070756 ENST00000318607 Transcript missense_variant 2369/3485 1240/1911 414/636 P/S Cca/Tca rs796192778,COSM3367142 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 deleterious(0.02) benign(0.014) 8/15 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,TIGRFAM_domain:TIGR01628 0,1 MODERATE 1 SNV 1 0,1 1 PASS GGG . . 100709464 PABPC1 . GRCh38 chr8 100709477 100709477 + Missense_Mutation SNP G G T rs201017624 7316-278 BS_YVRSCEC6 G G c.1227C>A p.Phe409Leu p.F409L ENST00000318607 8/15 69 60 7 53 53 0 PABPC1,missense_variant,p.Phe409Leu,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Phe364Leu,ENST00000519004,;PABPC1,missense_variant,p.Phe377Leu,ENST00000522387,;PABPC1,missense_variant,p.Phe384Leu,ENST00000610907,;PABPC1,missense_variant,p.Phe278Leu,ENST00000519100,;PABPC1,missense_variant,p.Phe62Leu,ENST00000517403,;PABPC1,upstream_gene_variant,,ENST00000517990,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,upstream_gene_variant,,ENST00000520868,;PABPC1,upstream_gene_variant,,ENST00000522658,;PABPC1,downstream_gene_variant,,ENST00000523555,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519596,;PABPC1,missense_variant,p.Phe100Leu,ENST00000523636,;PABPC1,3_prime_UTR_variant,,ENST00000519622,;PABPC1,non_coding_transcript_exon_variant,,ENST00000518716,;PABPC1,downstream_gene_variant,,ENST00000517921,;PABPC1,upstream_gene_variant,,ENST00000519848,; T ENSG00000070756 ENST00000318607 Transcript missense_variant 2356/3485 1227/1911 409/636 F/L ttC/ttA rs201017624,COSM3269226 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 tolerated(0.06) benign(0.013) 8/15 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,TIGRFAM_domain:TIGR01628 0.2572 0.2943 0.2089 0.2649 0.2107 0.2812 0,1 MODERATE 1 SNV 1 0,1 1 PASS TGA . . 6.816e-05 3.105e-05 0.0001091 4.676e-05 0.0001225 100709477 PABPC1 . GRCh38 chr8 100709499 100709499 + Missense_Mutation SNP G G A rs139094790 7316-278 BS_YVRSCEC6 G G c.1205C>T p.Pro402Leu p.P402L ENST00000318607 8/15 67 58 8 57 57 0 PABPC1,missense_variant,p.Pro402Leu,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Pro357Leu,ENST00000519004,;PABPC1,missense_variant,p.Pro370Leu,ENST00000522387,;PABPC1,missense_variant,p.Pro377Leu,ENST00000610907,;PABPC1,missense_variant,p.Pro271Leu,ENST00000519100,;PABPC1,missense_variant,p.Pro55Leu,ENST00000517403,;PABPC1,upstream_gene_variant,,ENST00000517990,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,upstream_gene_variant,,ENST00000520868,;PABPC1,upstream_gene_variant,,ENST00000522658,;PABPC1,downstream_gene_variant,,ENST00000523555,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519596,;PABPC1,missense_variant,p.Pro93Leu,ENST00000523636,;PABPC1,3_prime_UTR_variant,,ENST00000519622,;PABPC1,non_coding_transcript_exon_variant,,ENST00000518716,;PABPC1,downstream_gene_variant,,ENST00000517921,;PABPC1,upstream_gene_variant,,ENST00000519848,;,TF_binding_site_variant,,MA0139.1,; A ENSG00000070756 ENST00000318607 Transcript missense_variant 2334/3485 1205/1911 402/636 P/L cCa/cTa rs139094790,COSM4162560 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 deleterious(0.05) benign(0.003) 8/15 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,TIGRFAM_domain:TIGR01628 0,1 MODERATE 1 SNV 1 0,1 1 PASS TGG . . 0.02904 0.01211 0.0297 0.06307 0.01526 0.01461 0.02631 0.04355 0.05823 100709499 ZNF696 . GRCh38 chr8 143296520 143296520 + Missense_Mutation SNP A A G rs1191916261 7316-278 BS_YVRSCEC6 A A c.845A>G p.Gln282Arg p.Q282R ENST00000330143 3/3 66 48 16 35 33 1 ZNF696,missense_variant,p.Gln282Arg,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; G ENSG00000185730 ENST00000330143 Transcript missense_variant 1254/2795 845/1125 282/374 Q/R cAg/cGg rs1191916261,COSM6332675 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 deleterious(0.04) benign(0.055) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CAG . . 4.306e-06 9.57e-06 143296520 ZNF696 . GRCh38 chr8 143296616 143296616 + Missense_Mutation SNP T T C rs1274681929 7316-278 BS_YVRSCEC6 T T c.941T>C p.Ile314Thr p.I314T ENST00000330143 3/3 84 73 9 37 37 0 ZNF696,missense_variant,p.Ile314Thr,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; C ENSG00000185730 ENST00000330143 Transcript missense_variant 1350/2795 941/1125 314/374 I/T aTc/aCc rs1274681929 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 tolerated(0.07) possibly_damaging(0.679) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATC . . 143296616 RLN1 . GRCh38 chr9 5335325 5335325 + Nonsense_Mutation SNP G G A rs567396544 7316-278 BS_YVRSCEC6 G G c.484C>T p.Arg162Ter p.R162* ENST00000223862 2/2 60 28 32 39 39 0 RLN1,stop_gained,p.Arg162Ter,ENST00000223862,NM_006911.3;RLN1,non_coding_transcript_exon_variant,,ENST00000487557,; A ENSG00000107018 ENST00000223862 Transcript stop_gained 611/967 484/558 162/185 R/* Cga/Tga rs567396544,COSM5046405 1 -1 RLN1 HGNC HGNC:10026 protein_coding YES CCDS6462.1 ENSP00000223862 P04808 UPI000002C183 NM_006911.3 2/2 cd04365,hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF12,Gene3D:1.10.100.10,Pfam_domain:PF00049,SMART_domains:SM00078,Superfamily_domains:SSF56994 0,1 HIGH 1 SNV 1 0,1 PASS CGT . . 4.495e-05 6.553e-05 0.0005101 3.596e-05 0.0001834 5335325 PTCH1 . GRCh38 chr9 95468803 95468804 + Frame_Shift_Ins INS - - GT novel 7316-278 BS_YVRSCEC6 - - c.2197_2198insAC p.Ser733TyrfsTer14 p.S733Yfs*14 ENST00000331920 14/24 73 62 5 24 24 0 PTCH1,frameshift_variant,p.Ser667TyrfsTer14,ENST00000430669,;PTCH1,frameshift_variant,p.Ser733TyrfsTer14,ENST00000331920,NM_000264.3;PTCH1,frameshift_variant,p.Ser667TyrfsTer14,ENST00000437951,NM_001083602.1;PTCH1,frameshift_variant,p.Ser582TyrfsTer14,ENST00000418258,NM_001083607.1;PTCH1,frameshift_variant,p.Ser582TyrfsTer14,ENST00000421141,NM_001083605.1,NM_001083604.1;PTCH1,frameshift_variant,p.Ser582TyrfsTer14,ENST00000429896,NM_001083606.1;PTCH1,frameshift_variant,p.Ser732TyrfsTer14,ENST00000375274,NM_001083603.1;PTCH1,downstream_gene_variant,,ENST00000375271,;PTCH1,3_prime_UTR_variant,,ENST00000375290,;PTCH1,non_coding_transcript_exon_variant,,ENST00000549678,; GT ENSG00000185920 ENST00000331920 Transcript frameshift_variant 2497-2498/8057 2197-2198/4344 733/1447 S/YX tca/tACca 1 -1 PTCH1 HGNC HGNC:9585 protein_coding YES CCDS6714.1 ENSP00000332353 Q13635 UPI00001AFF9C NM_000264.3 14/24 Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,TIGRFAM_domain:TIGR00918 HIGH 1 insertion 5 1 PASS TGA . . 95468803 PTCH1 . GRCh38 chr9 95485706 95485706 + Frame_Shift_Del DEL A A - 7316-278 BS_YVRSCEC6 A A c.563del p.Val188AlafsTer32 p.V188Afs*32 ENST00000331920 3/24 69 33 31 51 51 0 PTCH1,frameshift_variant,p.Val122AlafsTer32,ENST00000430669,;PTCH1,frameshift_variant,p.Val188AlafsTer32,ENST00000331920,NM_000264.3;PTCH1,frameshift_variant,p.Val122AlafsTer32,ENST00000437951,NM_001083602.1;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000418258,NM_001083607.1;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000421141,NM_001083605.1,NM_001083604.1;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000429896,NM_001083606.1;PTCH1,frameshift_variant,p.Val187AlafsTer32,ENST00000375274,NM_001083603.1;PTCH1,frameshift_variant,p.Val122AlafsTer32,ENST00000468211,NM_001354919.1;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000553011,;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000547672,;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000546820,;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000551845,;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000551630,;PTCH1,intron_variant,,ENST00000548420,;PTCH1,non_coding_transcript_exon_variant,,ENST00000548379,;PTCH1,non_coding_transcript_exon_variant,,ENST00000553256,;PTCH1,intron_variant,,ENST00000548945,;PTCH1,downstream_gene_variant,,ENST00000551425,;PTCH1,frameshift_variant,p.Val121AlafsTer27,ENST00000375290,;PTCH1,frameshift_variant,p.Val37AlafsTer19,ENST00000550914,;PTCH1,3_prime_UTR_variant,,ENST00000551623,;PTCH1,upstream_gene_variant,,ENST00000550136,; - ENSG00000185920 ENST00000331920 Transcript frameshift_variant 863/8057 563/4344 188/1447 V/X gTc/gc COSM87912,COSM87913,COSM87914 1 -1 PTCH1 HGNC HGNC:9585 protein_coding YES CCDS6714.1 ENSP00000332353 Q13635 UPI00001AFF9C NM_000264.3 3/24 hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,TIGRFAM_domain:TIGR00918 1,1,1 HIGH 1 deletion 5 1,1,1 1 PASS GGAC . . 95485705 ZNF782 . GRCh38 chr9 96818448 96818448 + Missense_Mutation SNP A A C novel 7316-278 BS_YVRSCEC6 A A c.1575T>G p.His525Gln p.H525Q ENST00000481138 6/6 75 63 7 40 38 0 ZNF782,missense_variant,p.His525Gln,ENST00000481138,;ZNF782,missense_variant,p.His525Gln,ENST00000535338,NM_001001662.1;ZNF782,missense_variant,p.His514Gln,ENST00000289032,;ZNF782,downstream_gene_variant,,ENST00000478850,;ZNF782,downstream_gene_variant,,ENST00000466833,; C ENSG00000196597 ENST00000481138 Transcript missense_variant 2237/4213 1575/2100 525/699 H/Q caT/caG 1 -1 ZNF782 HGNC HGNC:33110 protein_coding YES CCDS35075.1 ENSP00000419397 Q6ZMW2 UPI00001D76E3 tolerated(1) benign(0.01) 6/6 Gene3D:2.20.28.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF54,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TAT . . 96818448 ZNF248 . GRCh38 chr10 37831746 37831746 + Missense_Mutation SNP T T C rs1384460656 7316-278 BS_YVRSCEC6 T T c.1609A>G p.Lys537Glu p.K537E ENST00000395867 6/6 74 63 6 45 44 0 ZNF248,missense_variant,p.Lys537Glu,ENST00000395867,NM_021045.2;ZNF248,missense_variant,p.Lys537Glu,ENST00000357328,NM_001267597.1,NM_001352482.1,NM_001352474.1,NM_001352473.1,NM_001352484.1,NM_001352483.1,NM_001352470.1,NM_001352471.1,NM_001352469.1,NM_001352491.1;ZNF248,intron_variant,,ENST00000374648,;ZNF248,intron_variant,,ENST00000611278,NM_001267605.1,NM_001267606.1;ZNF248,intron_variant,,ENST00000615949,NM_001267607.1;ZNF248,downstream_gene_variant,,ENST00000395873,;ZNF248,intron_variant,,ENST00000494133,;ZNF248,intron_variant,,ENST00000485560,; C ENSG00000198105 ENST00000395867 Transcript missense_variant 2160/5141 1609/1740 537/579 K/E Aaa/Gaa rs1384460656 1 -1 ZNF248 HGNC HGNC:13041 protein_coding YES CCDS7194.1 ENSP00000379208 Q8NDW4 A2RUI7 UPI000006CF12 NM_021045.2 tolerated(0.25) possibly_damaging(0.813) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF68,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTA . . 4.069e-06 2.983e-05 37831746 TYSND1 . GRCh38 chr10 70146173 70146175 + In_Frame_Del DEL CAG CAG - rs746237835 7316-278 BS_YVRSCEC6 CAG CAG c.412_414del p.Leu138del p.L138del ENST00000287078 1/4 78 68 5 30 29 0 TYSND1,inframe_deletion,p.Leu138del,ENST00000287078,NM_173555.3;TYSND1,inframe_deletion,p.Leu138del,ENST00000335494,NM_001040273.2;SAR1A,downstream_gene_variant,,ENST00000373238,;SAR1A,downstream_gene_variant,,ENST00000373241,NM_020150.4;SAR1A,downstream_gene_variant,,ENST00000373242,NM_001142648.1;SAR1A,downstream_gene_variant,,ENST00000431664,;TYSND1,intron_variant,,ENST00000479086,;TYSND1,upstream_gene_variant,,ENST00000494143,;,regulatory_region_variant,,ENSR00000029348,; - ENSG00000156521 ENST00000287078 Transcript inframe_deletion 412-414/3644 412-414/1701 138/566 L/- CTG/- rs746237835,COSM5837220 1 -1 TYSND1 HGNC HGNC:28531 protein_coding YES CCDS31213.1 ENSP00000287078 Q2T9J0 UPI0000160C9B NM_173555.3 1/4 PIRSF_domain:PIRSF037989,hmmpanther:PTHR21004,Low_complexity_(Seg):seg 0.007883 0.01068 0,1 MODERATE 1 deletion 1 0,1 PASS CTCAGC . . 0.0006931 0.0005155 0.0002565 0.001078 0.0004053 0.001374 0.0008722 0.000576 0.0005569 70146172 MUC5AC . GRCh38 chr11 1185624 1185624 + Missense_Mutation SNP A A C rs1276510167 7316-278 BS_YVRSCEC6 A A c.7479A>C p.Arg2493Ser p.R2493S ENST00000621226 31/49 41 28 9 40 37 1 MUC5AC,missense_variant,p.Arg2493Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 7526/17448 7479/16965 2493/5654 R/S agA/agC rs1276510167 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.77) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GAC . . 1185624 MUC5AC . GRCh38 chr11 1187407 1187407 + Missense_Mutation SNP G G C novel 7316-278 BS_YVRSCEC6 G G c.9262G>C p.Ala3088Pro p.A3088P ENST00000621226 31/49 53 36 7 38 36 1 MUC5AC,missense_variant,p.Ala3088Pro,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 9309/17448 9262/16965 3088/5654 A/P Gct/Cct 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.43) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CGC . . 1187407 MUC5AC . GRCh38 chr11 1189355 1189355 + Missense_Mutation SNP T T C rs1445126659 7316-278 BS_YVRSCEC6 T T c.11210T>C p.Ile3737Thr p.I3737T ENST00000621226 31/49 51 27 16 34 30 1 MUC5AC,missense_variant,p.Ile3737Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 11257/17448 11210/16965 3737/5654 I/T aTc/aCc rs1445126659 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.81) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 1189355 MUC5AC . GRCh38 chr11 1189520 1189520 + Missense_Mutation SNP T T C rs1223691732 7316-278 BS_YVRSCEC6 T T c.11375T>C p.Ile3792Thr p.I3792T ENST00000621226 31/49 62 44 14 33 30 1 MUC5AC,missense_variant,p.Ile3792Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 11422/17448 11375/16965 3792/5654 I/T aTc/aCc rs1223691732 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.45) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 1189520 MUC5AC . GRCh38 chr11 1189750 1189750 + Missense_Mutation SNP G G A rs1239470099 7316-278 BS_YVRSCEC6 G G c.11605G>A p.Ala3869Thr p.A3869T ENST00000621226 31/49 61 49 10 34 33 0 MUC5AC,missense_variant,p.Ala3869Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; A ENSG00000215182 ENST00000621226 Transcript missense_variant 11652/17448 11605/16965 3869/5654 A/T Gcc/Acc rs1239470099 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.8) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AGC . . 1189750 MUC5AC . GRCh38 chr11 1191892 1191892 + Missense_Mutation SNP A A G rs1366688586 7316-278 BS_YVRSCEC6 A A c.13747A>G p.Thr4583Ala p.T4583A ENST00000621226 31/49 87 74 10 35 34 0 MUC5AC,missense_variant,p.Thr4583Ala,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; G ENSG00000215182 ENST00000621226 Transcript missense_variant 13794/17448 13747/16965 4583/5654 T/A Acc/Gcc rs1366688586 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.38) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AAC . . 1191892 OR5F1 . GRCh38 chr11 55993916 55993916 + Missense_Mutation SNP G G T novel 7316-278 BS_YVRSCEC6 G G c.710C>A p.Ala237Asp p.A237D ENST00000278409 1/1 86 79 6 27 27 0 OR5F1,missense_variant,p.Ala237Asp,ENST00000278409,NM_003697.1; T ENSG00000149133 ENST00000278409 Transcript missense_variant 710/945 710/945 237/314 A/D gCt/gAt 1 -1 OR5F1 HGNC HGNC:8343 protein_coding YES CCDS31515.1 ENSP00000278409 O95221 UPI0000041D19 NM_003697.1 deleterious(0) probably_damaging(1) 1/1 PROSITE_profiles:PS50262,cd15411,hmmpanther:PTHR26452:SF731,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245 MODERATE 1 SNV PASS AGC . . 55993916 GLYAT . GRCh38 chr11 58715369 58715369 + Missense_Mutation SNP C C G rs756542151 7316-278 BS_YVRSCEC6 C C c.136G>C p.Val46Leu p.V46L ENST00000611865 2/5 79 68 10 45 44 1 GLYAT,missense_variant,p.Val46Leu,ENST00000611865,;GLYAT,missense_variant,p.Val46Leu,ENST00000344743,NM_201648.2;GLYAT,missense_variant,p.Val46Leu,ENST00000278400,NM_005838.3;GLYAT,missense_variant,p.Val46Leu,ENST00000529732,;GLYAT,upstream_gene_variant,,ENST00000586098,; G ENSG00000149124 ENST00000611865 Transcript missense_variant 136/1899 136/891 46/296 V/L Gtg/Ctg rs756542151,COSM5956554 1 -1 GLYAT HGNC HGNC:13734 protein_coding YES CCDS7970.1 ENSP00000484592 Q6IB77 UPI00003667C7 tolerated(1) benign(0) 2/5 hmmpanther:PTHR15298:SF9,hmmpanther:PTHR15298,Gene3D:3.40.630.30,Pfam_domain:PF06021,Superfamily_domains:SSF55729 0,1 MODERATE 1 SNV 3 0,1 PASS ACA . . 58715369 AHNAK . GRCh38 chr11 62527843 62527843 + Missense_Mutation SNP T T G rs1787043 7316-278 BS_YVRSCEC6 T T c.6574A>C p.Asn2192His p.N2192H ENST00000378024 5/5 82 74 8 43 43 0 AHNAK,missense_variant,p.Asn2192His,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; G ENSG00000124942 ENST00000378024 Transcript missense_variant 6849/18787 6574/17673 2192/5890 N/H Aac/Cac rs1787043,COSM4339729,COSM1293422 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.52) benign(0.003) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0.0006 0.0008 0.001 0.001 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TTT . . 0.0003046 0.001634 0.0003575 0.0004059 0.0002686 0.0001823 62527843 AHNAK . GRCh38 chr11 62527876 62527876 + Missense_Mutation SNP T T C rs1303694764 7316-278 BS_YVRSCEC6 T T c.6541A>G p.Thr2181Ala p.T2181A ENST00000378024 5/5 63 50 12 49 47 1 AHNAK,missense_variant,p.Thr2181Ala,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; C ENSG00000124942 ENST00000378024 Transcript missense_variant 6816/18787 6541/17673 2181/5890 T/A Acc/Gcc rs1303694764,COSM6238589,COSM6238588 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(1) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GTC . . 4.061e-06 5.798e-05 62527876 KRTAP5-9 . GRCh38 chr11 71549097 71549097 + Missense_Mutation SNP C C G novel 7316-278 BS_YVRSCEC6 C C c.440C>G p.Ser147Cys p.S147C ENST00000528743 1/1 95 86 8 46 44 2 KRTAP5-9,missense_variant,p.Ser147Cys,ENST00000528743,NM_005553.3; G ENSG00000254997 ENST00000528743 Transcript missense_variant 680/1136 440/510 147/169 S/C tCc/tGc 1 1 KRTAP5-9 HGNC HGNC:23604 protein_coding YES CCDS53677.1 ENSP00000431443 P26371 UPI000012E079 NM_005553.3 deleterious_low_confidence(0.03) possibly_damaging(0.884) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF131,Low_complexity_(Seg):seg MODERATE 1 SNV PASS TCC . . 71549097 CCDC15 . GRCh38 chr11 124988064 124988064 + Missense_Mutation SNP T T A novel 7316-278 BS_YVRSCEC6 T T c.1838T>A p.Leu613Gln p.L613Q ENST00000344762 8/16 95 86 7 49 47 0 CCDC15,missense_variant,p.Leu613Gln,ENST00000529051,;CCDC15,missense_variant,p.Leu613Gln,ENST00000344762,NM_025004.2; A ENSG00000149548 ENST00000344762 Transcript missense_variant 2097/3893 1838/2856 613/951 L/Q cTg/cAg 1 1 CCDC15 HGNC HGNC:25798 protein_coding YES CCDS44756.1 ENSP00000341684 Q0P6D6 UPI0000EE3BEA NM_025004.2 tolerated(0.34) benign(0.01) 8/16 hmmpanther:PTHR14817 MODERATE 1 SNV 5 PASS CTG . . 124988064 PRB4 . GRCh38 chr12 11308864 11308864 + Missense_Mutation SNP C C G rs77336955 7316-278 BS_YVRSCEC6 C C c.119G>C p.Arg40Pro p.R40P ENST00000279575 3/4 86 69 13 41 41 0 PRB4,missense_variant,p.Arg40Pro,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Arg40Pro,ENST00000535904,;PRB4,missense_variant,p.Arg40Pro,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Arg40Pro,ENST00000445719,; G ENSG00000230657 ENST00000279575 Transcript missense_variant 156/916 119/744 40/247 R/P cGc/cCc rs77336955,COSM1732889,COSM125561 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.19) benign(0) 3/4 Pfam_domain:PF15240,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCG . . 1.313e-05 7.058e-05 1.884e-05 11308864 RNFT2 . GRCh38 chr12 116833912 116833912 + Missense_Mutation SNP G G C novel 7316-278 BS_YVRSCEC6 G G c.1003G>C p.Val335Leu p.V335L ENST00000257575 8/11 62 35 25 32 32 0 RNFT2,missense_variant,p.Val335Leu,ENST00000257575,;RNFT2,missense_variant,p.Val335Leu,ENST00000392549,NM_001109903.1;RNFT2,missense_variant,p.Val335Leu,ENST00000407967,NM_032814.3;RNFT2,intron_variant,,ENST00000319176,;RNFT2,intron_variant,,ENST00000622220,;RNFT2,upstream_gene_variant,,ENST00000551251,;RNFT2,3_prime_UTR_variant,,ENST00000547718,; C ENSG00000135119 ENST00000257575 Transcript missense_variant 1236/3882 1003/1335 335/444 V/L Gtc/Ctc 1 1 RNFT2 HGNC HGNC:25905 protein_coding YES CCDS44987.1 ENSP00000257575 Q96EX2 UPI00001FBBF4 tolerated(1) benign(0.007) 8/11 hmmpanther:PTHR15860:SF2,hmmpanther:PTHR15860,Gene3D:1.10.1170.10 MODERATE 1 SNV 5 PASS GGT . . 116833912 POTEG . GRCh38 chr14 19433983 19433983 + Missense_Mutation SNP A A G rs1337425820 7316-278 BS_YVRSCEC6 A A c.307T>C p.Cys103Arg p.C103R ENST00000547848 1/11 213 156 51 94 90 3 POTEG,missense_variant,p.Cys103Arg,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Cys103Arg,ENST00000547722,;POTEG,missense_variant,p.Cys103Arg,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; G ENSG00000187537 ENST00000547848 Transcript missense_variant 359/2204 307/1527 103/508 C/R Tgc/Cgc rs1337425820,COSM2028125,COSM2028124 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 tolerated_low_confidence(0.3) benign(0.003) 1/11 Gene3D:1.25.40.20,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CAG . . 5.86e-06 1.475e-05 19433983 CHD8 . GRCh38 chr14 21400935 21400935 + Missense_Mutation SNP C C T rs1176349106 7316-278 BS_YVRSCEC6 C C c.4310G>A p.Arg1437His p.R1437H ENST00000646647 22/38 109 70 39 47 47 0 CHD8,missense_variant,p.Arg1437His,ENST00000646647,;CHD8,missense_variant,p.Arg1437His,ENST00000643469,;CHD8,missense_variant,p.Arg1437His,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Arg1437His,ENST00000557364,;CHD8,missense_variant,p.Arg1158His,ENST00000430710,NM_020920.3;CHD8,missense_variant,p.Arg1158His,ENST00000645929,;CHD8,missense_variant,p.Arg1439His,ENST00000646340,;CHD8,missense_variant,p.Arg663His,ENST00000555935,;CHD8,downstream_gene_variant,,ENST00000645140,;SNORD8,upstream_gene_variant,,ENST00000363915,;CHD8,non_coding_transcript_exon_variant,,ENST00000645206,;CHD8,non_coding_transcript_exon_variant,,ENST00000646558,;CHD8,intron_variant,,ENST00000555962,;AL161747.1,downstream_gene_variant,,ENST00000480068,; T ENSG00000100888 ENST00000646647 Transcript missense_variant 4620/8471 4310/7746 1437/2581 R/H cGt/cAt rs1176349106 1 -1 CHD8 HGNC HGNC:20153 protein_coding YES CCDS53885.1 ENSP00000495240 UPI00002375B9 deleterious(0.02) benign(0.124) 22/38 HAMAP:MF_03071,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ACG . . 21400935 PRTG . GRCh38 chr15 55680092 55680092 + Missense_Mutation SNP C C T rs1283248638 7316-278 BS_YVRSCEC6 C C c.935G>A p.Arg312His p.R312H ENST00000389286 6/20 79 37 42 55 54 0 PRTG,missense_variant,p.Arg312His,ENST00000389286,NM_173814.5;PRTG,upstream_gene_variant,,ENST00000561465,;AC012378.1,upstream_gene_variant,,ENST00000561155,;PRTG,upstream_gene_variant,,ENST00000559842,; T ENSG00000166450 ENST00000389286 Transcript missense_variant 983/11967 935/3453 312/1150 R/H cGc/cAc rs1283248638,COSM2218452 1 -1 PRTG HGNC HGNC:26373 protein_coding YES CCDS42040.1 ENSP00000373937 Q2VWP7 UPI00001555A7 NM_173814.5 deleterious(0) probably_damaging(0.999) 6/20 PROSITE_profiles:PS50835,cd00096,hmmpanther:PTHR44228:SF2,hmmpanther:PTHR44228,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 8.142e-06 8.983e-06 3.251e-05 55680092 ZSCAN2 . GRCh38 chr15 84621471 84621471 + Missense_Mutation SNP A A T novel 7316-278 BS_YVRSCEC6 A A c.1276A>T p.Ser426Cys p.S426C ENST00000448803 3/3 68 56 10 36 35 0 ZSCAN2,missense_variant,p.Ser426Cys,ENST00000448803,NM_181877.3;ZSCAN2,missense_variant,p.Ser276Cys,ENST00000358472,;ZSCAN2,missense_variant,p.Ser425Cys,ENST00000327179,;ZSCAN2,missense_variant,p.Ser426Cys,ENST00000546148,;ZSCAN2,intron_variant,,ENST00000485222,;ZSCAN2,intron_variant,,ENST00000538076,;ZSCAN2,intron_variant,,ENST00000541040,;ZSCAN2,downstream_gene_variant,,ENST00000379358,NM_001007072.1;ZSCAN2,downstream_gene_variant,,ENST00000540936,;AC048382.5,intron_variant,,ENST00000618330,;AC048382.6,downstream_gene_variant,,ENST00000621980,;ZSCAN2,upstream_gene_variant,,ENST00000303310,;ZSCAN2,missense_variant,p.Ser426Cys,ENST00000540894,; T ENSG00000176371 ENST00000448803 Transcript missense_variant 1568/3813 1276/1845 426/614 S/C Agc/Tgc 1 1 ZSCAN2 HGNC HGNC:20994 protein_coding YES CCDS10329.2 ENSP00000410198 Q7Z7L9 UPI000021D4BC NM_181877.3 deleterious(0) benign(0.429) 3/3 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR45305,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS AAG . . 84621471 DNAH3 . GRCh38 chr16 21098635 21098635 + Missense_Mutation SNP C C T rs769897712 7316-278 BS_YVRSCEC6 C C c.2501G>A p.Arg834Gln p.R834Q ENST00000261383 17/62 56 35 20 32 32 0 DNAH3,missense_variant,p.Arg834Gln,ENST00000261383,NM_017539.2; T ENSG00000158486 ENST00000261383 Transcript missense_variant 2501/12394 2501/12351 834/4116 R/Q cGg/cAg rs769897712,COSM5529949,COSM5529948 1 -1 DNAH3 HGNC HGNC:2949 protein_coding YES CCDS10594.1 ENSP00000261383 Q8TD57 UPI00001100F2 NM_017539.2 tolerated(0.51) benign(0) 17/62 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCG . . 1.632e-05 6.538e-05 2.993e-05 5.825e-05 8.999e-06 21098635 HS3ST4 . GRCh38 chr16 26135833 26135833 + Missense_Mutation SNP G G A rs762212461 7316-278 BS_YVRSCEC6 G G c.956G>A p.Arg319Gln p.R319Q ENST00000331351 2/2 85 46 39 39 39 0 HS3ST4,missense_variant,p.Arg319Gln,ENST00000331351,NM_006040.2;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,; A ENSG00000182601 ENST00000331351 Transcript missense_variant 1348/3203 956/1371 319/456 R/Q cGg/cAg rs762212461,COSM3108571,COSM3108570 1 1 HS3ST4 HGNC HGNC:5200 protein_coding YES CCDS53995.1 ENSP00000330606 Q9Y661 UPI000040938A NM_006040.2 tolerated(0.11) probably_damaging(0.998) 2/2 hmmpanther:PTHR10605:SF11,hmmpanther:PTHR10605,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGG . . 1.224e-05 2.708e-05 26135833 KRTAP4-6 . GRCh38 chr17 41140119 41140119 + Missense_Mutation SNP C C G rs756354027 7316-278 BS_YVRSCEC6 C C c.369G>C p.Arg123Ser p.R123S ENST00000345847 1/1 51 41 8 49 48 0 KRTAP4-6,missense_variant,p.Arg123Ser,ENST00000345847,NM_030976.1;,regulatory_region_variant,,ENSR00000283393,; G ENSG00000198090 ENST00000345847 Transcript missense_variant 369/1055 369/618 123/205 R/S agG/agC rs756354027,COSM5950825 1 -1 KRTAP4-6 HGNC HGNC:18909 protein_coding YES CCDS54125.1 ENSP00000328270 Q9BYQ5 UPI00006C17B9 NM_030976.1 tolerated(1) unknown(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF138,hmmpanther:PTHR23262 0,1 MODERATE 1 SNV 0,1 PASS ACC . . 0.0002045 0.0015 0.0001884 3.331e-05 41140119 QRICH2 . GRCh38 chr17 76292277 76292277 + Missense_Mutation SNP A A T rs113162124 7316-278 BS_YVRSCEC6 A A c.1952T>A p.Val651Asp p.V651D ENST00000262765 4/19 86 66 7 59 56 0 QRICH2,missense_variant,p.Val817Asp,ENST00000636395,;QRICH2,missense_variant,p.Val651Asp,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; T ENSG00000129646 ENST00000262765 Transcript missense_variant 2132/5357 1952/4992 651/1663 V/D gTt/gAt rs113162124,COSM1494109 1 -1 QRICH2 HGNC HGNC:25326 protein_coding YES CCDS32741.1 ENSP00000262765 Q9H0J4 UPI000006FECD NM_032134.2 tolerated(0.3) benign(0) 4/19 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 9.22e-06 7.173e-05 76292277 ZNF519 . GRCh38 chr18 14105194 14105194 + Missense_Mutation SNP C C T rs147242149 7316-278 BS_YVRSCEC6 C C c.1346G>A p.Arg449Gln p.R449Q ENST00000590202 3/3 84 64 11 37 35 1 ZNF519,missense_variant,p.Arg449Gln,ENST00000590202,NM_145287.3;ZNF519,intron_variant,,ENST00000589498,;AC006557.3,non_coding_transcript_exon_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,non_coding_transcript_exon_variant,,ENST00000624133,;ZNF519,intron_variant,,ENST00000587419,; T ENSG00000175322 ENST00000590202 Transcript missense_variant 1499/2830 1346/1623 449/540 R/Q cGa/cAa rs147242149,COSM6235356 1 -1 ZNF519 HGNC HGNC:30574 protein_coding YES CCDS32797.1 ENSP00000464872 Q8TB69 UPI0000201A41 NM_145287.3 tolerated(0.85) benign(0.01) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF97,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.00227 0.01663 0,1 MODERATE 1 SNV 1 0,1 PASS TCG . . 1.652e-05 6.626e-05 1.818e-05 3.308e-05 14105194 ZNF57 . GRCh38 chr19 2917676 2917676 + Missense_Mutation SNP A A G rs751297341 7316-278 BS_YVRSCEC6 A A c.1055A>G p.Gln352Arg p.Q352R ENST00000306908 4/4 70 60 6 56 54 0 ZNF57,missense_variant,p.Gln352Arg,ENST00000306908,NM_173480.2;ZNF57,missense_variant,p.Gln354Arg,ENST00000614108,;ZNF57,missense_variant,p.Gln320Arg,ENST00000523428,NM_001319083.1;ZNF57,downstream_gene_variant,,ENST00000522294,;ZNF57,downstream_gene_variant,,ENST00000590305,;AC119403.1,intron_variant,,ENST00000520090,; G ENSG00000171970 ENST00000306908 Transcript missense_variant 1203/2003 1055/1668 352/555 Q/R cAa/cGa rs751297341,COSM4744305 1 1 ZNF57 HGNC HGNC:13125 protein_coding YES CCDS12098.1 ENSP00000303696 Q68EA5 A5HJR3 UPI000006FE5C NM_173480.2 tolerated(0.29) possibly_damaging(0.589) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF9,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CAA . . 2.843e-05 0.0002274 2917676 CD209 . GRCh38 chr19 7745535 7745535 + Missense_Mutation SNP T T C rs145850292 7316-278 BS_YVRSCEC6 T T c.731A>G p.Gln244Arg p.Q244R ENST00000315599 4/7 102 77 22 40 39 1 CD209,missense_variant,p.Gln244Arg,ENST00000315599,NM_021155.3;CD209,missense_variant,p.Gln220Arg,ENST00000601951,;CD209,missense_variant,p.Gln244Arg,ENST00000354397,NM_001144897.1;CD209,missense_variant,p.Gln220Arg,ENST00000315591,NM_001144896.1;CD209,missense_variant,p.Gln200Arg,ENST00000204801,NM_001144894.1;CD209,missense_variant,p.Gln220Arg,ENST00000601256,;CD209,intron_variant,,ENST00000394161,;CD209,intron_variant,,ENST00000394173,NM_001144899.1;CD209,intron_variant,,ENST00000593660,;CD209,intron_variant,,ENST00000593821,NM_001144893.1;CD209,intron_variant,,ENST00000602261,NM_001144895.1; C ENSG00000090659 ENST00000315599 Transcript missense_variant 754/4283 731/1215 244/404 Q/R cAg/cGg rs145850292,COSM6197968,COSM6197967,COSM6197966 1 -1 CD209 HGNC HGNC:1641 protein_coding YES CCDS12186.1 ENSP00000315477 Q9NNX6 UPI000003422C NM_021155.3 tolerated(0.07) benign(0.003) 4/7 Gene3D:3.10.100.10,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF197,Superfamily_domains:SSF56436 0.0012 0.0038 0.001 0.003177 0.000814 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 1 PASS CTG . . 4.071e-06 6.564e-05 7745535 CD209 . GRCh38 chr19 7745562 7745562 + Missense_Mutation SNP T T A rs1291625799 7316-278 BS_YVRSCEC6 T T c.704A>T p.Gln235Leu p.Q235L ENST00000315599 4/7 91 73 13 34 34 0 CD209,missense_variant,p.Gln235Leu,ENST00000315599,NM_021155.3;CD209,missense_variant,p.Gln211Leu,ENST00000601951,;CD209,missense_variant,p.Gln235Leu,ENST00000354397,NM_001144897.1;CD209,missense_variant,p.Gln211Leu,ENST00000315591,NM_001144896.1;CD209,missense_variant,p.Gln191Leu,ENST00000204801,NM_001144894.1;CD209,missense_variant,p.Gln211Leu,ENST00000601256,;CD209,intron_variant,,ENST00000394161,;CD209,intron_variant,,ENST00000394173,NM_001144899.1;CD209,intron_variant,,ENST00000593660,;CD209,intron_variant,,ENST00000593821,NM_001144893.1;CD209,intron_variant,,ENST00000602261,NM_001144895.1; A ENSG00000090659 ENST00000315599 Transcript missense_variant 727/4283 704/1215 235/404 Q/L cAg/cTg rs1291625799,COSM6336085,COSM1293906,COSM1293905 1 -1 CD209 HGNC HGNC:1641 protein_coding YES CCDS12186.1 ENSP00000315477 Q9NNX6 UPI000003422C NM_021155.3 tolerated(0.2) benign(0) 4/7 Gene3D:3.10.100.10,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF197,Superfamily_domains:SSF56436 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 1 PASS CTG . . 7745562 ZNF699 . GRCh38 chr19 9295801 9295801 + Missense_Mutation SNP T T C rs867346336 7316-278 BS_YVRSCEC6 T T c.1603A>G p.Lys535Glu p.K535E ENST00000591998 6/6 88 73 9 43 40 0 ZNF699,missense_variant,p.Lys535Glu,ENST00000591998,NM_198535.2;ZNF699,missense_variant,p.Lys535Glu,ENST00000308650,;AC011451.1,downstream_gene_variant,,ENST00000591336,;,regulatory_region_variant,,ENSR00000106891,; C ENSG00000196110 ENST00000591998 Transcript missense_variant 1832/3358 1603/1929 535/642 K/E Aaa/Gaa rs867346336 1 -1 ZNF699 HGNC HGNC:24750 protein_coding YES CCDS42495.1 ENSP00000467723 Q32M78 UPI00001D825F NM_198535.2 tolerated(1) benign(0.022) 6/6 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF694,hmmpanther:PTHR24377:SF694,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE SNV 5 PASS TTC . . 9295801 ZNF433 . GRCh38 chr19 12015676 12015676 + Missense_Mutation SNP G G C novel 7316-278 BS_YVRSCEC6 G G c.1191C>G p.Asn397Lys p.N397K ENST00000344980 4/4 90 81 5 54 54 0 ZNF433,missense_variant,p.Asn362Lys,ENST00000419886,NM_001308346.1,NM_001308357.1,NM_001308351.1,NM_001308355.1;ZNF433,missense_variant,p.Asn397Lys,ENST00000344980,NM_001308348.1,NM_001080411.2;ZNF433,downstream_gene_variant,,ENST00000411841,;ZNF433,downstream_gene_variant,,ENST00000455504,;ZNF433,downstream_gene_variant,,ENST00000478765,;ZNF433,downstream_gene_variant,,ENST00000547560,;ZNF433,downstream_gene_variant,,ENST00000550507,;ZNF433,downstream_gene_variant,,ENST00000550745,;ZNF433,downstream_gene_variant,,ENST00000552904,;ZNF433-AS1,intron_variant,,ENST00000406892,;ZNF433-AS1,intron_variant,,ENST00000476474,;ZNF433-AS1,intron_variant,,ENST00000495324,;ZNF433-AS1,intron_variant,,ENST00000588047,;AC008770.1,downstream_gene_variant,,ENST00000547473,;ZNF433,downstream_gene_variant,,ENST00000548669,; C ENSG00000197647 ENST00000344980 Transcript missense_variant 1362/2280 1191/2022 397/673 N/K aaC/aaG 1 -1 ZNF433 HGNC HGNC:20811 protein_coding YES CCDS45983.1 ENSP00000339767 Q8N7K0 UPI0000071556 NM_001308348.1,NM_001080411.2 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF47,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GGT . . 12015676 ZNF844 . GRCh38 chr19 12076964 12076964 + Missense_Mutation SNP A A G 7316-278 BS_YVRSCEC6 A A c.1844A>G p.Asn615Ser p.N615S ENST00000439326 4/4 83 73 8 52 52 0 ZNF844,missense_variant,p.Asn615Ser,ENST00000439326,NM_001136501.2;ZNF844,3_prime_UTR_variant,,ENST00000441304,;ZNF844,downstream_gene_variant,,ENST00000550826,; G ENSG00000223547 ENST00000439326 Transcript missense_variant 2019/6620 1844/2001 615/666 N/S aAt/aGt COSM1289226 1 1 ZNF844 HGNC HGNC:25932 protein_coding YES CCDS45985.1 ENSP00000392024 Q08AG5 UPI0000185F5D NM_001136501.2 deleterious_low_confidence(0.01) benign(0.102) 4/4 1 MODERATE 1 SNV 1 1 PASS AAT . . 12076964 ZNF430 . GRCh38 chr19 21057177 21057177 + Missense_Mutation SNP G G A rs879008906 7316-278 BS_YVRSCEC6 G G c.869G>A p.Arg290Lys p.R290K ENST00000261560 5/5 70 59 8 37 37 0 ZNF430,missense_variant,p.Arg290Lys,ENST00000261560,NM_001172671.1,NM_025189.3;ZNF430,upstream_gene_variant,,ENST00000597922,;ZNF430,downstream_gene_variant,,ENST00000599548,; A ENSG00000118620 ENST00000261560 Transcript missense_variant 1050/3923 869/1713 290/570 R/K aGa/aAa rs879008906,COSM6450205 1 1 ZNF430 HGNC HGNC:20808 protein_coding YES CCDS32978.1 ENSP00000261560 Q9H8G1 UPI000020389E NM_001172671.1,NM_025189.3 tolerated(1) benign(0.003) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF131,hmmpanther:PTHR24384,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS AGA . . 21057177 ZNF430 . GRCh38 chr19 21057353 21057353 + Missense_Mutation SNP G G C 7316-278 BS_YVRSCEC6 G G c.1045G>C p.Glu349Gln p.E349Q ENST00000261560 5/5 64 54 6 49 48 0 ZNF430,missense_variant,p.Glu349Gln,ENST00000261560,NM_001172671.1,NM_025189.3;ZNF430,upstream_gene_variant,,ENST00000597922,;ZNF430,downstream_gene_variant,,ENST00000599548,; C ENSG00000118620 ENST00000261560 Transcript missense_variant 1226/3923 1045/1713 349/570 E/Q Gaa/Caa COSM126405 1 1 ZNF430 HGNC HGNC:20808 protein_coding YES CCDS32978.1 ENSP00000261560 Q9H8G1 UPI000020389E NM_001172671.1,NM_025189.3 deleterious(0.03) probably_damaging(0.968) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF131,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS AGA . . 21057353 ZNF493 . GRCh38 chr19 21424240 21424240 + Missense_Mutation SNP A A C rs764336949 7316-278 BS_YVRSCEC6 A A c.1581A>C p.Lys527Asn p.K527N ENST00000392288 4/4 56 45 5 42 42 0 ZNF493,missense_variant,p.Lys527Asn,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.Lys399Asn,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;AC010615.4,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,; C ENSG00000196268 ENST00000392288 Transcript missense_variant 1690/5023 1581/2325 527/774 K/N aaA/aaC rs764336949,COSM5950703,COSM5950702 1 1 ZNF493 HGNC HGNC:23708 protein_coding YES CCDS42536.1 ENSP00000376110 Q6ZR52 UPI000022ABBF NM_001076678.2 tolerated(1) benign(0.074) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,hmmpanther:PTHR24384:SF134,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAC . . 4.506e-05 0.00021 0.0001023 1.813e-05 0.000184 21424240 ZNF429 . GRCh38 chr19 21536917 21536917 + Missense_Mutation SNP T T A rs143458227 7316-278 BS_YVRSCEC6 T T c.864T>A p.Asp288Glu p.D288E ENST00000358491 4/4 54 41 9 60 57 0 ZNF429,missense_variant,p.Asp288Glu,ENST00000358491,NM_001001415.2;ZNF429,missense_variant,p.Asp260Glu,ENST00000618549,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,; A ENSG00000197013 ENST00000358491 Transcript missense_variant 1072/2233 864/2025 288/674 D/E gaT/gaA rs143458227,COSM6281336 1 1 ZNF429 HGNC HGNC:20817 protein_coding YES CCDS42537.1 ENSP00000351280 Q86V71 UPI000022ABC2 NM_001001415.2 tolerated(1) benign(0.015) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0.0136 0.0231 0.0179 0.0348 0.002563 0.01414 0,1 MODERATE 1 SNV 3 0,1 1 PASS ATG . . 0.01885 0.001974 0.02454 0.01242 0.0004062 0.04529 0.0151 0.01846 0.02793 21536917 ZNF257 . GRCh38 chr19 22088673 22088673 + Missense_Mutation SNP G G T rs538824538 7316-278 BS_YVRSCEC6 G G c.923G>T p.Arg308Ile p.R308I ENST00000594947 4/4 65 55 7 32 32 0 ZNF257,missense_variant,p.Arg308Ile,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; T ENSG00000197134 ENST00000594947 Transcript missense_variant 1067/3874 923/1692 308/563 R/I aGa/aTa rs538824538,COSM993851,COSM2747774 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 tolerated(0.57) benign(0.065) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0002 0.0008 0,1,1 MODERATE 1 SNV 4 0,1,1 PASS AGA . . 4.079e-06 6.555e-05 22088673 ZNF729 . GRCh38 chr19 22315132 22315132 + Missense_Mutation SNP G G A rs762491262 7316-278 BS_YVRSCEC6 G G c.1715G>A p.Cys572Tyr p.C572Y ENST00000601693 4/4 82 68 12 40 40 0 ZNF729,missense_variant,p.Cys572Tyr,ENST00000601693,NM_001242680.1; A ENSG00000196350 ENST00000601693 Transcript missense_variant 1833/3877 1715/3759 572/1252 C/Y tGc/tAc rs762491262 1 1 ZNF729 HGNC HGNC:32464 protein_coding YES CCDS59368.1 ENSP00000469582 A6NN14 UPI000042600C NM_001242680.1 tolerated(1) benign(0.005) 4/4 Gene3D:2.20.25.10,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384:SF125,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TGC . . 2.106e-05 0.0001402 6.138e-05 0.0001895 22315132 ZNF729 . GRCh38 chr19 22316769 22316769 + Missense_Mutation SNP A A G rs745343022 7316-278 BS_YVRSCEC6 A A c.3352A>G p.Thr1118Ala p.T1118A ENST00000601693 4/4 89 75 12 45 45 0 ZNF729,missense_variant,p.Thr1118Ala,ENST00000601693,NM_001242680.1; G ENSG00000196350 ENST00000601693 Transcript missense_variant 3470/3877 3352/3759 1118/1252 T/A Acc/Gcc rs745343022 1 1 ZNF729 HGNC HGNC:32464 protein_coding YES CCDS59368.1 ENSP00000469582 A6NN14 UPI000042600C NM_001242680.1 tolerated(0.84) benign(0.211) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS AAC . . 22316769 ZNF728 . GRCh38 chr19 22975958 22975958 + Missense_Mutation SNP A A G rs777011895 7316-278 BS_YVRSCEC6 A A c.1379T>C p.Val460Ala p.V460A ENST00000594710 4/4 66 49 11 49 47 1 ZNF728,missense_variant,p.Val460Ala,ENST00000594710,NM_001267716.1;ZNF728,downstream_gene_variant,,ENST00000599851,; G ENSG00000269067 ENST00000594710 Transcript missense_variant 1525/2015 1379/1869 460/622 V/A gTc/gCc rs777011895 1 -1 ZNF728 HGNC HGNC:32463 protein_coding YES CCDS59370.1 ENSP00000471593 P0DKX0 UPI0002656E4B NM_001267716.1 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS GAC . . 22975958 ZNF730 . GRCh38 chr19 23145642 23145642 + Missense_Mutation SNP T T C rs1458038244 7316-278 BS_YVRSCEC6 T T c.598T>C p.Ser200Pro p.S200P ENST00000597761 4/4 89 81 8 59 58 0 ZNF730,missense_variant,p.Ser200Pro,ENST00000597761,NM_001277403.1;ZNF730,downstream_gene_variant,,ENST00000599195,; C ENSG00000183850 ENST00000597761 Transcript missense_variant 797/2374 598/1512 200/503 S/P Tcc/Ccc rs1458038244,COSM6290625 1 1 ZNF730 HGNC HGNC:32470 protein_coding YES CCDS59371.1 ENSP00000472959 Q6ZMV8 UPI000035E7F4 NM_001277403.1 tolerated(1) benign(0.031) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF110,hmmpanther:PTHR24384,Gene3D:3.30.160.60,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 5 0,1 PASS ATC . . 6.371e-06 1.56e-05 23145642 ZNF724 . GRCh38 chr19 23222752 23222752 + Missense_Mutation SNP T T A rs879065145 7316-278 BS_YVRSCEC6 T T c.1493A>T p.Lys498Ile p.K498I ENST00000418100 4/4 65 46 7 43 41 1 ZNF724,missense_variant,p.Lys498Ile,ENST00000418100,NM_001355404.1,NM_001355406.1,NM_001355405.1;ZNF724,downstream_gene_variant,,ENST00000597537,;AC092329.3,downstream_gene_variant,,ENST00000611392,; A ENSG00000196081 ENST00000418100 Transcript missense_variant 1611/2764 1493/1860 498/619 K/I aAa/aTa rs879065145 1 -1 ZNF724 HGNC HGNC:32460 protein_coding YES ENSP00000413411 A8MTY0 UPI0000EE61E4 NM_001355404.1,NM_001355406.1,NM_001355405.1 tolerated(0.49) benign(0.049) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TTT . . 23222752 ZNF726 . GRCh38 chr19 23933706 23933706 + Missense_Mutation SNP T T G rs778739687 7316-278 BS_YVRSCEC6 T T c.1590T>G p.Ile530Met p.I530M ENST00000594466 4/4 72 57 8 44 43 0 ZNF726,missense_variant,p.Ile530Met,ENST00000594466,NM_001244038.1;ZNF726,missense_variant,p.Ile530Met,ENST00000322487,;ZNF726,intron_variant,,ENST00000334589,;ZNF726,intron_variant,,ENST00000575986,NM_001348687.1;AC011503.1,intron_variant,,ENST00000596326,;AC011503.2,downstream_gene_variant,,ENST00000594230,;ZNF92P3,upstream_gene_variant,,ENST00000596594,; G ENSG00000213967 ENST00000594466 Transcript missense_variant 1695/2473 1590/1851 530/616 I/M atT/atG rs778739687 1 1 ZNF726 HGNC HGNC:32462 protein_coding YES CCDS59372.1 ENSP00000471516 A6NNF4 UPI0002255F7F NM_001244038.1 deleterious(0.01) benign(0.035) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE SNV 5 PASS TTC . . 1.657e-05 0.0002745 23933706 ZNF345 . GRCh38 chr19 36877913 36877913 + Missense_Mutation SNP C C A rs1356034064 7316-278 BS_YVRSCEC6 C C c.1083C>A p.His361Gln p.H361Q ENST00000529555 2/2 83 65 11 48 46 2 ZNF345,missense_variant,p.His361Gln,ENST00000529555,;ZNF345,missense_variant,p.His361Gln,ENST00000589046,NM_003419.4;ZNF345,missense_variant,p.His361Gln,ENST00000614069,NM_001242474.1;ZNF345,missense_variant,p.His361Gln,ENST00000612719,NM_001242475.1,NM_001242476.1;ZNF345,missense_variant,p.His361Gln,ENST00000420450,NM_001242472.1;ZNF345,missense_variant,p.His232Gln,ENST00000640438,;ZNF345,intron_variant,,ENST00000526123,;ZNF345,intron_variant,,ENST00000586933,;ZNF345,downstream_gene_variant,,ENST00000331800,;ZNF345,downstream_gene_variant,,ENST00000532141,;ZNF345,downstream_gene_variant,,ENST00000585396,;ZNF345,downstream_gene_variant,,ENST00000586646,;ZNF345,intron_variant,,ENST00000432005,;ZNF345,intron_variant,,ENST00000525851,;ZNF345,intron_variant,,ENST00000529989,;ZNF345,intron_variant,,ENST00000534729,; A ENSG00000251247 ENST00000529555 Transcript missense_variant 1871/3527 1083/1467 361/488 H/Q caC/caA rs1356034064 1 1 ZNF345 HGNC HGNC:16367 protein_coding YES CCDS12497.1 ENSP00000431202 Q14585 UPI000013C364 tolerated(1) benign(0) 2/2 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF637,hmmpanther:PTHR24377:SF637,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS ACA . . 36877913 ZNF345 . GRCh38 chr19 36877942 36877942 + Missense_Mutation SNP A A T rs1398301945 7316-278 BS_YVRSCEC6 A A c.1112A>T p.Glu371Val p.E371V ENST00000529555 2/2 78 67 10 49 48 1 ZNF345,missense_variant,p.Glu371Val,ENST00000529555,;ZNF345,missense_variant,p.Glu371Val,ENST00000589046,NM_003419.4;ZNF345,missense_variant,p.Glu371Val,ENST00000614069,NM_001242474.1;ZNF345,missense_variant,p.Glu371Val,ENST00000612719,NM_001242475.1,NM_001242476.1;ZNF345,missense_variant,p.Glu371Val,ENST00000420450,NM_001242472.1;ZNF345,missense_variant,p.Glu242Val,ENST00000640438,;ZNF345,intron_variant,,ENST00000526123,;ZNF345,intron_variant,,ENST00000586933,;ZNF345,downstream_gene_variant,,ENST00000331800,;ZNF345,downstream_gene_variant,,ENST00000532141,;ZNF345,downstream_gene_variant,,ENST00000585396,;ZNF345,downstream_gene_variant,,ENST00000586646,;ZNF345,intron_variant,,ENST00000432005,;ZNF345,intron_variant,,ENST00000525851,;ZNF345,intron_variant,,ENST00000529989,;ZNF345,intron_variant,,ENST00000534729,; T ENSG00000251247 ENST00000529555 Transcript missense_variant 1900/3527 1112/1467 371/488 E/V gAa/gTa rs1398301945 1 1 ZNF345 HGNC HGNC:16367 protein_coding YES CCDS12497.1 ENSP00000431202 Q14585 UPI000013C364 deleterious(0.03) benign(0.007) 2/2 Gene3D:2.30.30.380,Pfam_domain:PF13912,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF637,hmmpanther:PTHR24377:SF637,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GAA . . 36877942 RYR1 . GRCh38 chr19 38466123 38466123 + Missense_Mutation SNP C C T rs1272027787 7316-278 BS_YVRSCEC6 C C c.2903C>T p.Pro968Leu p.P968L ENST00000359596 24/106 61 30 31 38 36 0 RYR1,missense_variant,p.Pro968Leu,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Pro968Leu,ENST00000359596,NM_000540.2;RYR1,upstream_gene_variant,,ENST00000594111,;,regulatory_region_variant,,ENSR00000288298,; T ENSG00000196218 ENST00000359596 Transcript missense_variant 2903/15117 2903/15117 968/5038 P/L cCg/cTg rs1272027787,COSM5045007,COSM4485189 1 1 RYR1 HGNC HGNC:10483 protein_coding YES CCDS33011.1 ENSP00000352608 P21817 UPI0000D7E62F NM_000540.2 deleterious(0) probably_damaging(0.986) 24/106 hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF02026 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS CCG . . 4.159e-06 2.995e-05 38466123 ZNF235 . GRCh38 chr19 44288071 44288071 + Missense_Mutation SNP T T C rs868155287 7316-278 BS_YVRSCEC6 T T c.1364A>G p.Glu455Gly p.E455G ENST00000291182 5/5 75 64 9 52 49 0 ZNF235,missense_variant,p.Glu455Gly,ENST00000291182,NM_004234.4;ZNF235,intron_variant,,ENST00000589248,;ZNF235,intron_variant,,ENST00000589799,;ZNF235,downstream_gene_variant,,ENST00000591609,;ZNF235,non_coding_transcript_exon_variant,,ENST00000587921,;ZNF235,intron_variant,,ENST00000592844,;AC138473.1,upstream_gene_variant,,ENST00000605717,; C ENSG00000159917 ENST00000291182 Transcript missense_variant 1467/3188 1364/2217 455/738 E/G gAa/gGa rs868155287 1 -1 ZNF235 HGNC HGNC:12866 protein_coding YES CCDS33048.1 ENSP00000291182 Q14590 UPI00002025C2 NM_004234.4 tolerated(1) benign(0.078) 5/5 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF90,hmmpanther:PTHR24376:SF90,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTC . . 44288071 ZNF613 . GRCh38 chr19 51944641 51944641 + Missense_Mutation SNP A A C rs1426148525 7316-278 BS_YVRSCEC6 A A c.758A>C p.Asn253Thr p.N253T ENST00000293471 6/6 89 78 10 47 46 0 ZNF613,missense_variant,p.Asn253Thr,ENST00000293471,NM_001031721.3;ZNF613,missense_variant,p.Asn217Thr,ENST00000391794,NM_024840.3;ZNF613,downstream_gene_variant,,ENST00000599683,;ZNF613,downstream_gene_variant,,ENST00000600853,;ZNF613,upstream_gene_variant,,ENST00000601794,;ZNF350-AS1,upstream_gene_variant,,ENST00000595010,;ZNF350-AS1,upstream_gene_variant,,ENST00000600253,;ZNF613,downstream_gene_variant,,ENST00000593379,; C ENSG00000176024 ENST00000293471 Transcript missense_variant 1437/3419 758/1854 253/617 N/T aAc/aCc rs1426148525 1 1 ZNF613 HGNC HGNC:25827 protein_coding YES CCDS33089.1 ENSP00000293471 Q6PF04 UPI0000202AD1 NM_001031721.3 tolerated(1) benign(0) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF26,hmmpanther:PTHR24404:SF26,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.28.30,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAC . . 51944641 ZNF880 . GRCh38 chr19 52384632 52384632 + Missense_Mutation SNP T T C rs200144736 7316-278 BS_YVRSCEC6 T T c.1052T>C p.Leu351Pro p.L351P ENST00000422689 4/4 103 90 9 47 47 0 ZNF880,missense_variant,p.Leu351Pro,ENST00000422689,NM_001145434.1;ZNF880,downstream_gene_variant,,ENST00000424032,;ZNF880,downstream_gene_variant,,ENST00000600321,;ZNF528-AS1,downstream_gene_variant,,ENST00000601562,;ZNF528-AS1,downstream_gene_variant,,ENST00000594119,; C ENSG00000221923 ENST00000422689 Transcript missense_variant 1067/2230 1052/1734 351/577 L/P cTt/cCt rs200144736,COSM6217804,COSM4132363 1 1 ZNF880 HGNC HGNC:37249 protein_coding YES CCDS46164.1 ENSP00000406318 Q6PDB4 UPI00001D818D NM_001145434.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF703,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CTT . . 2.489e-05 1.132e-05 0.0001671 52384632 ZNF665 . GRCh38 chr19 53164941 53164941 + Missense_Mutation SNP T T C rs772843403 7316-278 BS_YVRSCEC6 T T c.1549A>G p.Asn517Asp p.N517D ENST00000396424 4/4 83 74 7 27 27 0 ZNF665,missense_variant,p.Asn517Asp,ENST00000396424,NM_024733.3;ZNF665,missense_variant,p.Asn452Asp,ENST00000600412,;AC092070.1,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,; C ENSG00000197497 ENST00000396424 Transcript missense_variant 1639/4159 1549/2037 517/678 N/D Aat/Gat rs772843403 1 -1 ZNF665 HGNC HGNC:25885 protein_coding YES CCDS46169.1 ENSP00000379702 Q9H7R5 UPI000059D78D NM_024733.3 tolerated(0.22) benign(0.041) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF609,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TTA . . 1.218e-05 8.971e-05 0.0001824 53164941 ZNF665 . GRCh38 chr19 53164946 53164946 + Missense_Mutation SNP T T C rs1285598951 7316-278 BS_YVRSCEC6 T T c.1544A>G p.Lys515Arg p.K515R ENST00000396424 4/4 87 75 9 29 29 0 ZNF665,missense_variant,p.Lys515Arg,ENST00000396424,NM_024733.3;ZNF665,missense_variant,p.Lys450Arg,ENST00000600412,;AC092070.1,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,; C ENSG00000197497 ENST00000396424 Transcript missense_variant 1634/4159 1544/2037 515/678 K/R aAg/aGg rs1285598951 1 -1 ZNF665 HGNC HGNC:25885 protein_coding YES CCDS46169.1 ENSP00000379702 Q9H7R5 UPI000059D78D NM_024733.3 tolerated(0.06) possibly_damaging(0.578) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF609,hmmpanther:PTHR24377,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CTT . . 53164946 ZNF845 . GRCh38 chr19 53351799 53351799 + Missense_Mutation SNP A A G rs62115343 7316-278 BS_YVRSCEC6 A A c.1124A>G p.Lys375Arg p.K375R ENST00000458035 4/4 65 54 9 51 50 1 ZNF845,missense_variant,p.Lys375Arg,ENST00000458035,NM_138374.2;ZNF845,missense_variant,p.Lys375Arg,ENST00000595091,NM_001321524.1,NM_001321523.1,NM_001321522.1; G ENSG00000213799 ENST00000458035 Transcript missense_variant 1244/6351 1124/2913 375/970 K/R aAa/aGa rs62115343,COSM3990252 1 1 ZNF845 HGNC HGNC:25112 protein_coding YES CCDS46170.1 ENSP00000388311 Q96IR2 UPI0001662BAC NM_138374.2 tolerated(1) benign(0.023) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 4 0,1 PASS AAA . . 53351799 ZNF525 . GRCh38 chr19 53381751 53381751 + Missense_Mutation SNP C C T 7316-278 BS_YVRSCEC6 C C c.1172C>T p.Thr391Ile p.T391I ENST00000474037 4/4 70 61 7 36 36 0 ZNF525,missense_variant,p.Thr355Ile,ENST00000467003,NM_001348156.1,NM_001348157.1;ZNF525,missense_variant,p.Thr391Ile,ENST00000474037,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,downstream_gene_variant,,ENST00000600148,;ZNF525,upstream_gene_variant,,ENST00000601790,;AC125388.1,upstream_gene_variant,,ENST00000459631,; T ENSG00000203326 ENST00000474037 Transcript missense_variant 1306/3890 1172/1440 391/479 T/I aCc/aTc COSM4598418 1 1 ZNF525 HGNC HGNC:29423 protein_coding YES ENSP00000417696 J3KR51 UPI0000EE700C tolerated(0.07) benign(0.25) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 5 1 PASS ACC . . 53381751 ZNF761 . GRCh38 chr19 53455897 53455897 + Missense_Mutation SNP C C A rs773868670 7316-278 BS_YVRSCEC6 C C c.1390C>A p.Gln464Lys p.Q464K ENST00000432094 5/5 81 70 7 45 45 0 ZNF761,missense_variant,p.Gln464Lys,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.Gln464Lys,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; A ENSG00000160336 ENST00000432094 Transcript missense_variant 1697/4061 1390/2241 464/746 Q/K Caa/Aaa rs773868670,COSM1271763 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 tolerated(1) benign(0) 5/5 Gene3D:2.20.25.10,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,hmmpanther:PTHR24377:SF330,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GCA . . 8.144e-06 1.795e-05 53455897 ZNF761 . GRCh38 chr19 53456140 53456140 + Missense_Mutation SNP T T A rs878866463 7316-278 BS_YVRSCEC6 T T c.1633T>A p.Ser545Thr p.S545T ENST00000432094 5/5 76 67 7 47 46 0 ZNF761,missense_variant,p.Ser545Thr,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.Ser545Thr,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; A ENSG00000160336 ENST00000432094 Transcript missense_variant 1940/4061 1633/2241 545/746 S/T Tct/Act rs878866463 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 tolerated(1) benign(0.001) 5/5 Gene3D:2.30.30.380,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,hmmpanther:PTHR24377:SF330,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTC . . 53456140 ZNF543 . GRCh38 chr19 57328488 57328488 + Missense_Mutation SNP T T G novel 7316-278 BS_YVRSCEC6 T T c.1026T>G p.Ile342Met p.I342M ENST00000321545 4/4 92 76 13 45 43 0 ZNF543,missense_variant,p.Ile342Met,ENST00000321545,NM_213598.3; G ENSG00000178229 ENST00000321545 Transcript missense_variant 1371/3659 1026/1803 342/600 I/M atT/atG 1 1 ZNF543 HGNC HGNC:25281 protein_coding YES CCDS33130.1 ENSP00000322545 Q08ER8 UPI00001D8197 NM_213598.3 tolerated(0.25) benign(0.012) 4/4 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF710,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTG . . 57328488 ZIK1 . GRCh38 chr19 57591109 57591109 + Missense_Mutation SNP G G A rs868068475 7316-278 BS_YVRSCEC6 G G c.1298G>A p.Arg433Lys p.R433K ENST00000597850 4/4 73 63 7 46 46 0 ZIK1,missense_variant,p.Arg433Lys,ENST00000597850,NM_001010879.3;ZIK1,missense_variant,p.Arg420Lys,ENST00000536878,NM_001321145.1;ZIK1,missense_variant,p.Arg378Lys,ENST00000599456,NM_001321146.1;ZIK1,3_prime_UTR_variant,,ENST00000307468,;ZIK1,downstream_gene_variant,,ENST00000597219,;ZIK1,downstream_gene_variant,,ENST00000598689,;ZIK1,downstream_gene_variant,,ENST00000600053,;ZIK1,downstream_gene_variant,,ENST00000598726,; A ENSG00000171649 ENST00000597850 Transcript missense_variant 1513/4181 1298/1464 433/487 R/K aGg/aAg rs868068475,COSM5589413 1 1 ZIK1 HGNC HGNC:33104 protein_coding YES CCDS33135.1 ENSP00000472867 Q3SY52 UPI00001609B2 NM_001010879.3 deleterious(0.04) probably_damaging(0.994) 4/4 Gene3D:2.30.30.380,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF617,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS AGG . . 57591109 ZNF814 . GRCh38 chr19 57874178 57874178 + Missense_Mutation SNP G G T rs201682072 7316-278 BS_YVRSCEC6 G G c.1212C>A p.Asp404Glu p.D404E ENST00000435989 3/3 73 59 10 47 45 0 ZNF814,missense_variant,p.Asp404Glu,ENST00000435989,NM_001144989.1;ZNF814,missense_variant,p.Asp266Glu,ENST00000614383,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,upstream_gene_variant,,ENST00000594159,;AC010326.2,downstream_gene_variant,,ENST00000602124,; T ENSG00000204514 ENST00000435989 Transcript missense_variant 1447/3146 1212/2568 404/855 D/E gaC/gaA rs201682072,COSM221868 1 -1 ZNF814 HGNC HGNC:33258 protein_coding YES CCDS46212.1 ENSP00000410545 B7Z6K7 UPI0001662BAD NM_001144989.1 tolerated(0.06) benign(0.005) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF619,hmmpanther:PTHR24377,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:2.30.30.380,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TGT . . 0.04549 0.04325 0.03086 0.01748 0.04029 0.0422 0.05966 0.0273 0.0333 57874178 ZNF343 . GRCh38 chr20 2483397 2483397 + Missense_Mutation SNP T T C rs143673765 7316-278 BS_YVRSCEC6 T T c.1687A>G p.Ile563Val p.I563V ENST00000612935 8/8 46 35 7 38 36 0 ZNF343,missense_variant,p.Ile563Val,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Ile522Val,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Ile432Val,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; C ENSG00000088876 ENST00000612935 Transcript missense_variant 2101/3675 1687/1923 563/640 I/V Att/Gtt rs143673765 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 tolerated(1) benign(0.003) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.000227 MODERATE 1 SNV 5 PASS ATA . . 8.268e-06 0.0001221 2483397 ZNF343 . GRCh38 chr20 2483756 2483756 + Missense_Mutation SNP A A G rs775792169 7316-278 BS_YVRSCEC6 A A c.1328T>C p.Ile443Thr p.I443T ENST00000612935 8/8 66 51 7 42 41 0 ZNF343,missense_variant,p.Ile443Thr,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Ile402Thr,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Ile312Thr,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; G ENSG00000088876 ENST00000612935 Transcript missense_variant 1742/3675 1328/1923 443/640 I/T aTa/aCa rs775792169 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 tolerated(1) benign(0.001) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.40.155.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS TAT . . 2483756 SEMG1 . GRCh38 chr20 45208231 45208231 + Missense_Mutation SNP A A C rs2233886 7316-278 BS_YVRSCEC6 A A c.934A>C p.Ser312Arg p.S312R ENST00000372781 2/3 82 66 16 40 38 1 SEMG1,missense_variant,p.Ser312Arg,ENST00000372781,NM_003007.4; C ENSG00000124233 ENST00000372781 Transcript missense_variant 991/1662 934/1389 312/462 S/R Agc/Cgc rs2233886,COSM3293235 1 1 SEMG1 HGNC HGNC:10742 protein_coding YES CCDS13345.1 ENSP00000361867 P04279 UPI0000135844 NM_003007.4 tolerated(0.06) benign(0.007) 2/3 Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS AAG . . 0.001451 0.002899 0.001494 0.004404 9.087e-05 0.001245 0.003223 0.002032 45208231 CLIC6 . GRCh38 chr21 34670019 34670019 + Missense_Mutation SNP C C G rs199527885 7316-278 BS_YVRSCEC6 C C c.631C>G p.Gln211Glu p.Q211E ENST00000360731 1/7 52 35 7 29 25 0 CLIC6,missense_variant,p.Gln211Glu,ENST00000360731,NM_001317009.1;CLIC6,missense_variant,p.Gln211Glu,ENST00000349499,NM_053277.2;,regulatory_region_variant,,ENSR00000141723,; G ENSG00000159212 ENST00000360731 Transcript missense_variant 631/3860 631/2115 211/704 Q/E Caa/Gaa rs199527885,COSM4437467,COSM4437466 1 1 CLIC6 HGNC HGNC:2065 protein_coding YES CCDS82669.1 ENSP00000353959 Q96NY7 UPI0000074422 NM_001317009.1 tolerated_low_confidence(1) benign(0) 1/7 mobidb-lite,hmmpanther:PTHR45476 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ACA . . 34670019 RIPK4 . GRCh38 chr21 41756641 41756641 + Nonsense_Mutation SNP G G A rs765708371 7316-278 BS_YVRSCEC6 G G c.358C>T p.Arg120Ter p.R120* ENST00000332512 2/8 78 48 29 46 46 0 RIPK4,stop_gained,p.Arg120Ter,ENST00000352483,;RIPK4,stop_gained,p.Arg120Ter,ENST00000332512,NM_020639.2; A ENSG00000183421 ENST00000332512 Transcript stop_gained 423/3889 358/2355 120/784 R/* Cga/Tga rs765708371,COSM6309547,COSM6309546,COSM4490157,COSM4490156 1 -1 RIPK4 HGNC HGNC:496 protein_coding YES CCDS13675.1 ENSP00000332454 P57078 UPI000002A3C9 NM_020639.2 2/8 cd14025,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000615,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24198:SF65,hmmpanther:PTHR24198 0,1,1,1,1 HIGH 1 SNV 1 0,1,1,1,1 1 PASS CGG . . 8.124e-06 2.978e-05 8.955e-06 41756641 TRIOBP . GRCh38 chr22 37724958 37724958 + Missense_Mutation SNP T T C 7316-278 BS_YVRSCEC6 T T c.2402T>C p.Leu801Pro p.L801P ENST00000406386 7/24 76 57 14 47 45 1 TRIOBP,missense_variant,p.Leu801Pro,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Leu801Pro,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; C ENSG00000100106 ENST00000406386 Transcript missense_variant 2673/10145 2402/7098 801/2365 L/P cTc/cCc COSM4736304 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 tolerated_low_confidence(1) benign(0) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite 1 MODERATE 1 SNV 5 1 1 PASS CTC . . 37724958 PRPS2 . GRCh38 chrX 12809294 12809294 + Missense_Mutation SNP C C T novel 7316-278 BS_YVRSCEC6 C C c.376C>T p.His126Tyr p.H126Y ENST00000398491 3/7 73 30 43 42 42 0 PRPS2,missense_variant,p.His123Tyr,ENST00000380668,NM_002765.4;PRPS2,missense_variant,p.His126Tyr,ENST00000398491,NM_001039091.2;PRPS2,missense_variant,p.His36Tyr,ENST00000461630,;PRPS2,missense_variant,p.His123Tyr,ENST00000489404,;PRPS2,missense_variant,p.His123Tyr,ENST00000380663,; T ENSG00000101911 ENST00000398491 Transcript missense_variant 468/1348 376/966 126/321 H/Y Cac/Tac 1 1 PRPS2 HGNC HGNC:9465 protein_coding YES CCDS43918.1 ENSP00000381504 P11908 A0A140VK41 UPI000004A051 NM_001039091.2 deleterious(0.01) probably_damaging(0.983) 3/7 HAMAP:MF_00583_B,hmmpanther:PTHR10210:SF59,hmmpanther:PTHR10210,TIGRFAM_domain:TIGR01251,Gene3D:3.40.50.2020,Superfamily_domains:SSF53271 MODERATE 1 SNV 1 PASS TCA . . 12809294 MAGEB6B . GRCh38 chrX 26160860 26160860 + Missense_Mutation SNP T T A rs1288015146 7316-278 BS_YVRSCEC6 T T c.260T>A p.Met87Lys p.M87K ENST00000416929 1/1 71 61 6 47 46 0 MAGEB6B,missense_variant,p.Met87Lys,ENST00000416929,; A ENSG00000232030 ENST00000416929 Transcript missense_variant 260/1224 260/1224 87/407 M/K aTg/aAg rs1288015146 1 1 MAGEB6B HGNC HGNC:28824 protein_coding YES ENSP00000488257 A0A0J9YX57 UPI0000237759 tolerated(1) benign(0) 1/1 Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67,SMART_domains:SM01392,mobidb-lite MODERATE 1 SNV PASS ATG . . 26160860 NR0B1 . GRCh38 chrX 30309153 30309153 + Missense_Mutation SNP T T C rs1337699275 7316-278 BS_YVRSCEC6 T T c.211A>G p.Lys71Glu p.K71E ENST00000378970 1/2 69 50 16 29 26 0 NR0B1,missense_variant,p.Lys71Glu,ENST00000378970,NM_000475.4;NR0B1,upstream_gene_variant,,ENST00000378963,; C ENSG00000169297 ENST00000378970 Transcript missense_variant 446/2021 211/1413 71/470 K/E Aaa/Gaa rs1337699275,COSM6287149,COSM6287148 1 -1 NR0B1 HGNC HGNC:7960 protein_coding YES CCDS14223.1 ENSP00000368253 P51843 F1D8P4 UPI0000128ED4 NM_000475.4 tolerated_low_confidence(1) benign(0) 1/2 hmmpanther:PTHR24081:SF1,hmmpanther:PTHR24081,Pfam_domain:PF14046 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS TTA . . 30309153 FAM47B . GRCh38 chrX 34943765 34943765 + Missense_Mutation SNP T T C rs768760472 7316-278 BS_YVRSCEC6 T T c.934T>C p.Ser312Pro p.S312P ENST00000329357 1/1 70 58 9 39 35 0 FAM47B,missense_variant,p.Ser312Pro,ENST00000329357,NM_152631.2; C ENSG00000189132 ENST00000329357 Transcript missense_variant 970/2120 934/1938 312/645 S/P Tcc/Ccc rs768760472,COSM6281168 1 1 FAM47B HGNC HGNC:26659 protein_coding YES CCDS14236.1 ENSP00000328307 Q8NA70 UPI000013F47B NM_152631.2 tolerated(1) benign(0) 1/1 Pfam_domain:PF14642,Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192,mobidb-lite 0,1 MODERATE 1 SNV 0,1 PASS TTC . . 5.597e-06 1.249e-05 34943765 MAGEE1 . GRCh38 chrX 76428714 76428714 + Missense_Mutation SNP G G C rs782734670 7316-278 BS_YVRSCEC6 G G c.784G>C p.Ala262Pro p.A262P ENST00000361470 1/1 49 34 10 55 46 1 MAGEE1,missense_variant,p.Ala262Pro,ENST00000361470,NM_020932.2;,regulatory_region_variant,,ENSR00000247301,; C ENSG00000198934 ENST00000361470 Transcript missense_variant 991/3630 784/2874 262/957 A/P Gcc/Ccc rs782734670,COSM302606,COSM302605 1 1 MAGEE1 HGNC HGNC:24934 protein_coding YES CCDS14433.1 ENSP00000354912 Q9HCI5 UPI000006F138 NM_020932.2 tolerated_low_confidence(0.72) benign(0) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF9,mobidb-lite 0.0003 0,1,1 MODERATE 1 SNV 0,1,1 PASS GGC . . 76428714 RBMXL3 . GRCh38 chrX 115192020 115192020 + Missense_Mutation SNP A A G 7316-278 BS_YVRSCEC6 A A c.2579A>G p.His860Arg p.H860R ENST00000424776 1/1 77 56 16 47 46 0 RBMXL3,missense_variant,p.His860Arg,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1; G ENSG00000175718 ENST00000424776 Transcript missense_variant 2594/3442 2579/3204 860/1067 H/R cAc/cGc COSM6209403 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.76) benign(0.01) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 1 MODERATE SNV 1 PASS CAC . . 115192020 LUZP4 . GRCh38 chrX 115306632 115306632 + Missense_Mutation SNP A A G novel 7316-278 BS_YVRSCEC6 A A c.770A>G p.Lys257Arg p.K257R ENST00000371920 4/4 70 58 6 53 52 1 LUZP4,missense_variant,p.Lys257Arg,ENST00000371920,NM_001318840.1,NM_016383.4;LUZP4,3_prime_UTR_variant,,ENST00000371921,; G ENSG00000102021 ENST00000371920 Transcript missense_variant 777/1701 770/942 257/313 K/R aAa/aGa 1 1 LUZP4 HGNC HGNC:24971 protein_coding YES CCDS14567.1 ENSP00000360988 Q9P127 UPI0000036093 NM_001318840.1,NM_016383.4 tolerated(1) benign(0) 4/4 hmmpanther:PTHR22550,hmmpanther:PTHR22550:SF11 MODERATE 1 SNV 1 PASS AAA . . 115306632 ZBTB33 . GRCh38 chrX 120254571 120254571 + Missense_Mutation SNP T T A novel 7316-278 BS_YVRSCEC6 T T c.1156T>A p.Ser386Thr p.S386T ENST00000326624 2/2 82 50 30 40 40 0 ZBTB33,missense_variant,p.Ser386Thr,ENST00000326624,NM_006777.3;ZBTB33,missense_variant,p.Ser386Thr,ENST00000557385,NM_001184742.1;TMEM255A,downstream_gene_variant,,ENST00000309720,NM_017938.3;TMEM255A,downstream_gene_variant,,ENST00000371352,;TMEM255A,downstream_gene_variant,,ENST00000371369,NM_001104544.1;TMEM255A,downstream_gene_variant,,ENST00000440464,NM_001104545.1; A ENSG00000177485 ENST00000326624 Transcript missense_variant 1384/5211 1156/2019 386/672 S/T Tcc/Acc 1 1 ZBTB33 HGNC HGNC:16682 protein_coding YES CCDS14596.1 ENSP00000314153 Q86T24 UPI0000072F87 NM_006777.3 tolerated(0.23) benign(0.073) 2/2 hmmpanther:PTHR44779 MODERATE 1 SNV 1 PASS TTC . . 120254571 TEX13D . GRCh38 chrX 124334206 124334206 + Missense_Mutation SNP T T G rs1248850930 7316-278 BS_YVRSCEC6 T T c.1289T>G p.Ile430Ser p.I430S ENST00000632372 1/1 51 39 9 24 24 0 TEX13D,missense_variant,p.Ile430Ser,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; G ENSG00000282419 ENST00000632372 Transcript missense_variant 1547/4203 1289/2145 430/714 I/S aTc/aGc rs1248850930 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.89) benign(0.011) 1/1 MODERATE 1 SNV PASS ATC . . 124334206 TEX13D . GRCh38 chrX 124334728 124334728 + Missense_Mutation SNP G G C rs112652307 7316-278 BS_YVRSCEC6 G G c.1811G>C p.Arg604Pro p.R604P ENST00000632372 1/1 44 35 8 39 38 1 TEX13D,missense_variant,p.Arg604Pro,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; C ENSG00000282419 ENST00000632372 Transcript missense_variant 2069/4203 1811/2145 604/714 R/P cGa/cCa rs112652307 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.33) benign(0) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite MODERATE 1 SNV PASS CGA . . 124334728 AC234771.4 . GRCh38 chrX 135194393 135194393 + Splice_Site SNP C C G rs1255681330 7316-278 BS_YVRSCEC6 C C n.64-2G>C ENST00000441416 87 77 8 53 52 0 AC234771.4,splice_acceptor_variant,,ENST00000441416,; G ENSG00000236491 ENST00000441416 Transcript splice_acceptor_variant,non_coding_transcript_variant rs1255681330 1 -1 AC234771.4 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/5 HIGH 1 SNV PASS TCC . . 135194393 CROCC . GRCh38 chr1 16930520 16930520 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.775A>C p.Lys259Gln p.K259Q ENST00000375541 7/37 130 112 10 84 82 0 CROCC,missense_variant,p.Lys259Gln,ENST00000375541,NM_014675.4;CROCC,missense_variant,p.Lys119Gln,ENST00000445545,;CROCC,missense_variant,p.Lys153Gln,ENST00000467938,;CROCC,non_coding_transcript_exon_variant,,ENST00000466256,;CROCC,non_coding_transcript_exon_variant,,ENST00000492631,;,regulatory_region_variant,,ENSR00000002152,; C ENSG00000058453 ENST00000375541 Transcript missense_variant 844/6656 775/6054 259/2017 K/Q Aag/Cag 1 1 CROCC HGNC HGNC:21299 protein_coding YES CCDS30616.1 ENSP00000364691 Q5TZA2 UPI000042B0BB NM_014675.4 tolerated(0.07) probably_damaging(0.919) 7/37 Gene3D:1.20.5.340,Pfam_domain:PF15035,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF17 MODERATE 1 SNV 5 PASS AAA . . 16930520 KDM1A . GRCh38 chr1 23019824 23019824 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.228A>C p.Glu76Asp p.E76D ENST00000400181 1/21 47 38 9 40 40 0 KDM1A,missense_variant,p.Glu76Asp,ENST00000400181,NM_001009999.2;KDM1A,missense_variant,p.Glu76Asp,ENST00000465864,;KDM1A,missense_variant,p.Glu76Asp,ENST00000356634,NM_015013.3;TEX46,upstream_gene_variant,,ENST00000566855,NM_001242521.1;AL031428.1,downstream_gene_variant,,ENST00000427154,;,regulatory_region_variant,,ENSR00000002985,; C ENSG00000004487 ENST00000400181 Transcript missense_variant 332/3059 228/2631 76/876 E/D gaA/gaC 1 1 KDM1A HGNC HGNC:29079 protein_coding YES CCDS53278.1 ENSP00000383042 O60341 UPI0000403137 NM_001009999.2 tolerated_low_confidence(0.27) benign(0.015) 1/21 PIRSF_domain:PIRSF038051,mobidb-lite MODERATE 1 SNV 1 1 PASS AAC . . 23019824 CITED4 . GRCh38 chr1 40861814 40861814 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.314A>C p.Asn105Thr p.N105T ENST00000372638 1/1 33 21 9 37 34 1 CITED4,missense_variant,p.Asn105Thr,ENST00000372638,NM_133467.2;AC119677.1,upstream_gene_variant,,ENST00000414199,;,regulatory_region_variant,,ENSR00000005267,; G ENSG00000179862 ENST00000372638 Transcript missense_variant 553/1316 314/555 105/184 N/T aAc/aCc 1 -1 CITED4 HGNC HGNC:18696 protein_coding YES CCDS458.1 ENSP00000361721 Q96RK1 UPI000004241F NM_133467.2 tolerated(0.16) benign(0.018) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR17045:SF5,hmmpanther:PTHR17045 MODERATE SNV PASS GTT . . 40861814 BTBD19 . GRCh38 chr1 44813648 44813648 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.752T>G p.Ile251Ser p.I251S ENST00000450269 8/8 43 36 7 53 52 1 BTBD19,missense_variant,p.Ile251Ser,ENST00000450269,NM_001136537.1;BTBD19,missense_variant,p.Ile213Ser,ENST00000409335,;BTBD19,non_coding_transcript_exon_variant,,ENST00000464114,;BTBD19,non_coding_transcript_exon_variant,,ENST00000485668,;BTBD19,non_coding_transcript_exon_variant,,ENST00000495433,;BTBD19,non_coding_transcript_exon_variant,,ENST00000489976,;BTBD19,downstream_gene_variant,,ENST00000439563,;BTBD19,downstream_gene_variant,,ENST00000475105,;BTBD19,downstream_gene_variant,,ENST00000482715,;,regulatory_region_variant,,ENSR00000005799,; G ENSG00000222009 ENST00000450269 Transcript missense_variant 1091/1572 752/876 251/291 I/S aTt/aGt 1 1 BTBD19 HGNC HGNC:27145 protein_coding YES ENSP00000395461 C9JJ37 UPI00001619D4 NM_001136537.1 deleterious(0) probably_damaging(0.942) 8/8 hmmpanther:PTHR24410 MODERATE 1 SNV 5 PASS ATT . . 44813648 AL596275.2 . GRCh38 chr1 50295610 50295611 + Splice_Region INS - - A rs893577399 7316-230 BS_K44TMQ9G - - n.146-5dup ENST00000641749 75 58 8 27 24 0 AL596275.2,splice_region_variant,,ENST00000641749,;AL596275.2,intron_variant,,ENST00000641180,;AL596275.2,intron_variant,,ENST00000641628,;AL596275.2,upstream_gene_variant,,ENST00000642061,; A ENSG00000284696 ENST00000641749 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs893577399 1 -1 AL596275.2 Clone_based_ensembl_gene lincRNA YES 1/11 LOW 1 insertion PASS GGA . . 50295610 TCHH . GRCh38 chr1 152108526 152108526 + Missense_Mutation SNP C C A rs879174342 7316-230 BS_K44TMQ9G C C c.4691G>T p.Arg1564Leu p.R1564L ENST00000614923 3/3 51 38 7 32 29 0 TCHH,missense_variant,p.Arg1564Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg1564Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,;,TF_binding_site_variant,,MA0139.1,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 4786/6995 4691/5832 1564/1943 R/L cGc/cTc rs879174342,COSM6507740,COSM3740655 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.78) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GCG . . 152108526 TCHH . GRCh38 chr1 152110359 152110359 + Missense_Mutation SNP C C A rs1178021340 7316-230 BS_K44TMQ9G C C c.2858G>T p.Arg953Leu p.R953L ENST00000614923 3/3 47 38 6 44 41 0 TCHH,missense_variant,p.Arg953Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg953Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 2953/6995 2858/5832 953/1943 R/L cGc/cTc rs1178021340,COSM4779461 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 deleterious_low_confidence(0) benign(0.035) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCG . . 152110359 RPTN . GRCh38 chr1 152155523 152155523 + Missense_Mutation SNP G G T rs1373195943 7316-230 BS_K44TMQ9G G G c.1576C>A p.Pro526Thr p.P526T ENST00000316073 3/3 64 51 11 32 29 0 RPTN,missense_variant,p.Pro526Thr,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; T ENSG00000215853 ENST00000316073 Transcript missense_variant 1641/3569 1576/2355 526/784 P/T Cca/Aca rs1373195943,COSM4722791,COSM341811 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGC . . 0.000648 0.001641 0.000782 0.0005607 0.003284 0.0003551 0.0006909 0.0005766 152155523 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 65 47 12 39 38 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 NPHS2 . GRCh38 chr1 179575863 179575863 + Translation_Start_Site SNP A A C novel 7316-230 BS_K44TMQ9G A A c.2T>G p.Met1? p.M1? ENST00000367615 1/8 64 54 8 44 44 0 NPHS2,start_lost,p.Met1?,ENST00000367615,NM_014625.3;NPHS2,start_lost,p.Met1?,ENST00000367616,NM_001297575.1;RNU5F-2P,upstream_gene_variant,,ENST00000516066,;,regulatory_region_variant,,ENSR00000016471,; C ENSG00000116218 ENST00000367615 Transcript start_lost 71/1855 2/1152 1/383 M/R aTg/aGg 1 -1 NPHS2 HGNC HGNC:13394 protein_coding YES CCDS1331.1 ENSP00000356587 Q9NP85 UPI000003F549 NM_014625.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/8 mobidb-lite HIGH 1 SNV 1 1 PASS CAT . . 179575863 FAM163A . GRCh38 chr1 179743427 179743427 + Splice_Region SNP A A C novel 7316-230 BS_K44TMQ9G A A c.-136+4A>C ENST00000341785 52 39 8 53 52 0 FAM163A,splice_region_variant,,ENST00000341785,NM_173509.2;AL359853.3,downstream_gene_variant,,ENST00000423879,;AL359853.3,downstream_gene_variant,,ENST00000451471,;,regulatory_region_variant,,ENSR00000016477,; C ENSG00000143340 ENST00000341785 Transcript splice_region_variant,intron_variant 1 1 FAM163A HGNC HGNC:28274 protein_coding YES CCDS1333.1 ENSP00000354891 Q96GL9 UPI000006ED82 NM_173509.2 1/4 LOW 1 SNV 1 PASS AAC . . 179743427 RNPEP . GRCh38 chr1 201982684 201982684 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.18T>G p.His6Gln p.H6Q ENST00000295640 1/11 46 37 7 41 41 0 RNPEP,missense_variant,p.His6Gln,ENST00000295640,NM_001319182.1,NM_020216.3;RNPEP,missense_variant,p.His6Gln,ENST00000367286,NM_001319184.1,NM_001319183.1;RNPEP,upstream_gene_variant,,ENST00000447312,;SNORA70H,downstream_gene_variant,,ENST00000383910,;RNPEP,intron_variant,,ENST00000481780,;RNPEP,upstream_gene_variant,,ENST00000471105,;RNPEP,upstream_gene_variant,,ENST00000478617,;RNPEP,upstream_gene_variant,,ENST00000479726,;RNPEP,upstream_gene_variant,,ENST00000492849,;RNPEP,upstream_gene_variant,,ENST00000620670,;RNPEP,upstream_gene_variant,,ENST00000487116,;RNPEP,upstream_gene_variant,,ENST00000492587,;,regulatory_region_variant,,ENSR00000018219,;RPL10P4,downstream_gene_variant,,ENST00000412093,; G ENSG00000176393 ENST00000295640 Transcript missense_variant 61/2427 18/1953 6/650 H/Q caT/caG 1 1 RNPEP HGNC HGNC:10078 protein_coding YES CCDS1418.1 ENSP00000295640 Q9H4A4 UPI00000463FA NM_001319182.1,NM_020216.3 deleterious_low_confidence(0.03) benign(0) 1/11 hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF153 MODERATE 1 SNV 1 PASS ATT . . 201982684 ZNF678 . GRCh38 chr1 227654718 227654718 + Missense_Mutation SNP C C A 7316-230 BS_K44TMQ9G C C c.468C>A p.Asp156Glu p.D156E ENST00000343776 4/4 56 46 8 47 46 1 ZNF678,missense_variant,p.Asp156Glu,ENST00000343776,;ZNF678,missense_variant,p.Asp156Glu,ENST00000397097,;ZNF678,missense_variant,p.Asp211Glu,ENST00000440339,NM_178549.3;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000465266,; A ENSG00000181450 ENST00000343776 Transcript missense_variant 813/8556 468/1578 156/525 D/E gaC/gaA COSM904888,COSM3396148,COSM3396147,COSM1151987 1 1 ZNF678 HGNC HGNC:28652 protein_coding YES ENSP00000344828 Q5SXM1 UPI000019862A tolerated(1) benign(0.012) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF714,hmmpanther:PTHR24377:SF714,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1,1,1 MODERATE 1 SNV 1 1,1,1,1 PASS ACG . . 227654718 FAM89A . GRCh38 chr1 231040174 231040174 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.38A>C p.Asn13Thr p.N13T ENST00000366654 1/2 54 36 16 42 42 0 FAM89A,missense_variant,p.Asn13Thr,ENST00000366654,NM_198552.2;,regulatory_region_variant,,ENSR00000021676,; G ENSG00000182118 ENST00000366654 Transcript missense_variant 73/1495 38/555 13/184 N/T aAc/aCc 1 -1 FAM89A HGNC HGNC:25057 protein_coding YES CCDS1590.1 ENSP00000355614 Q96GI7 UPI000006D6ED NM_198552.2 tolerated(0.59) benign(0.01) 1/2 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 231040174 PPM1G . GRCh38 chr2 27409395 27409395 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.28A>C p.Thr10Pro p.T10P ENST00000344034 1/10 72 60 11 31 29 0 PPM1G,missense_variant,p.Thr10Pro,ENST00000344034,NM_177983.2;PPM1G,non_coding_transcript_exon_variant,,ENST00000472077,;PPM1G,non_coding_transcript_exon_variant,,ENST00000484925,;,regulatory_region_variant,,ENSR00000114421,; G ENSG00000115241 ENST00000344034 Transcript missense_variant 293/2311 28/1641 10/546 T/P Acg/Ccg 1 -1 PPM1G HGNC HGNC:9278 protein_coding YES CCDS1752.1 ENSP00000342778 O15355 Q6IAU5 UPI000000106E NM_177983.2 deleterious(0) probably_damaging(0.927) 1/10 hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF544 MODERATE 1 SNV 1 PASS GTG . . 27409395 C2orf16 . GRCh38 chr2 27581736 27581736 + Missense_Mutation SNP G G T rs754248312 7316-230 BS_K44TMQ9G G G c.5164G>T p.Ala1722Ser p.A1722S ENST00000408964 1/1 60 39 10 50 44 0 C2orf16,missense_variant,p.Ala5126Ser,ENST00000447166,;C2orf16,missense_variant,p.Ala1722Ser,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; T ENSG00000221843 ENST00000408964 Transcript missense_variant 5215/6200 5164/5955 1722/1984 A/S Gct/Tct rs754248312 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(1) benign(0.006) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS CGC . . 4.593e-06 3.898e-05 27581736 ZFP36L2 . GRCh38 chr2 43224886 43224886 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.918T>G p.Cys306Trp p.C306W ENST00000282388 2/2 58 49 8 40 39 0 ZFP36L2,missense_variant,p.Cys306Trp,ENST00000282388,NM_006887.4;LINC01126,upstream_gene_variant,,ENST00000623515,;AC010883.1,upstream_gene_variant,,ENST00000423354,;,regulatory_region_variant,,ENSR00000116141,; C ENSG00000152518 ENST00000282388 Transcript missense_variant 1212/3696 918/1485 306/494 C/W tgT/tgG 1 -1 ZFP36L2 HGNC HGNC:1108 protein_coding YES CCDS1811.1 ENSP00000282388 P47974 UPI000013DCDA NM_006887.4 deleterious(0.02) possibly_damaging(0.712) 2/2 hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF100,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 43224886 SIX3 . GRCh38 chr2 44942259 44942259 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.155A>C p.Asn52Thr p.N52T ENST00000260653 1/2 38 29 7 44 43 0 SIX3,missense_variant,p.Asn52Thr,ENST00000260653,NM_005413.3;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;LINC01833,upstream_gene_variant,,ENST00000437916,;LINC01833,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;RF02250,downstream_gene_variant,,ENST00000611000,;RF02251,downstream_gene_variant,,ENST00000620790,;RF02252,downstream_gene_variant,,ENST00000621512,;,regulatory_region_variant,,ENSR00000116339,; C ENSG00000138083 ENST00000260653 Transcript missense_variant 362/2523 155/999 52/332 N/T aAc/aCc 1 1 SIX3 HGNC HGNC:10889 protein_coding YES CCDS1821.1 ENSP00000260653 O95343 UPI00001359C4 NM_005413.3 tolerated_low_confidence(0.63) benign(0) 1/2 hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 44942259 TMEM131 . GRCh38 chr2 97995585 97995585 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.78A>C p.Glu26Asp p.E26D ENST00000186436 1/41 52 41 7 46 43 1 TMEM131,missense_variant,p.Glu26Asp,ENST00000186436,NM_015348.1;TMEM131,upstream_gene_variant,,ENST00000418629,;TMEM131,upstream_gene_variant,,ENST00000489507,;,regulatory_region_variant,,ENSR00000120418,; G ENSG00000075568 ENST00000186436 Transcript missense_variant 307/6640 78/5652 26/1883 E/D gaA/gaC 1 -1 TMEM131 HGNC HGNC:30366 protein_coding YES CCDS46368.1 ENSP00000186436 Q92545 UPI00006C0498 NM_015348.1 deleterious_low_confidence(0.05) possibly_damaging(0.899) 1/41 MODERATE 1 SNV 5 PASS GTT . . 97995585 MYO7B . GRCh38 chr2 127633265 127633265 + Missense_Mutation SNP C C T rs960112382 7316-230 BS_K44TMQ9G C C c.5335C>T p.Pro1779Ser p.P1779S ENST00000428314 39/47 59 52 6 43 43 0 MYO7B,missense_variant,p.Pro1779Ser,ENST00000428314,NM_001080527.1;MYO7B,missense_variant,p.Pro1779Ser,ENST00000409816,;MYO7B,missense_variant,p.Pro632Ser,ENST00000409090,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;MYO7B,upstream_gene_variant,,ENST00000494959,; T ENSG00000169994 ENST00000428314 Transcript missense_variant 5388/6715 5335/6351 1779/2116 P/S Ccc/Tcc rs960112382,COSM4611628,COSM4611627 1 1 MYO7B HGNC HGNC:7607 protein_coding YES CCDS46405.1 ENSP00000415090 Q6PIF6 UPI00006C04F0 NM_001080527.1 tolerated(0.57) possibly_damaging(0.461) 39/47 PROSITE_profiles:PS51016,hmmpanther:PTHR13140:SF505,hmmpanther:PTHR13140,Pfam_domain:PF00784,SMART_domains:SM00139 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCC . . 127633265 IDH1 . GRCh38 chr2 208248388 208248388 + Missense_Mutation SNP C C T rs121913500 7316-230 BS_K44TMQ9G C C c.395G>A p.Arg132His p.R132H ENST00000415913 4/10 63 53 10 60 59 0 IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.3;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,; T ENSG00000138413 ENST00000415913 Transcript missense_variant 777/2441 395/1245 132/414 R/H cGt/cAt rs121913500,CM1310533,COSM28750,COSM28746 1 -1 IDH1 HGNC HGNC:5382 protein_coding YES CCDS2381.1 ENSP00000390265 O75874 V9HWJ2 UPI000012D1B4 NM_001282387.1 deleterious_low_confidence(0.01) benign(0.047) 4/10 PDB-ENSP_mappings:1t09.A,PDB-ENSP_mappings:1t09.B,PDB-ENSP_mappings:1t0l.A,PDB-ENSP_mappings:1t0l.B,PDB-ENSP_mappings:1t0l.C,PDB-ENSP_mappings:1t0l.D,Gene3D:3.40.718.10,PDB-ENSP_mappings:3inm.A,PDB-ENSP_mappings:3inm.B,PDB-ENSP_mappings:3inm.C,PDB-ENSP_mappings:3map.A,PDB-ENSP_mappings:3map.B,PDB-ENSP_mappings:3mar.A,PDB-ENSP_mappings:3mar.B,PDB-ENSP_mappings:3mas.A,PDB-ENSP_mappings:3mas.B,PDB-ENSP_mappings:4i3k.A,PDB-ENSP_mappings:4i3k.B,PDB-ENSP_mappings:4i3l.A,PDB-ENSP_mappings:4i3l.B,PDB-ENSP_mappings:4kzo.A,PDB-ENSP_mappings:4kzo.B,PDB-ENSP_mappings:4kzo.C,PDB-ENSP_mappings:4l03.A,PDB-ENSP_mappings:4l03.B,PDB-ENSP_mappings:4l03.C,PDB-ENSP_mappings:4l04.A,PDB-ENSP_mappings:4l04.B,PDB-ENSP_mappings:4l04.C,PDB-ENSP_mappings:4l04.D,PDB-ENSP_mappings:4l04.E,PDB-ENSP_mappings:4l04.F,PDB-ENSP_mappings:4l06.A,PDB-ENSP_mappings:4l06.B,PDB-ENSP_mappings:4l06.C,PDB-ENSP_mappings:4l06.D,PDB-ENSP_mappings:4l06.E,PDB-ENSP_mappings:4l06.F,PDB-ENSP_mappings:4umx.A,PDB-ENSP_mappings:4umx.B,PDB-ENSP_mappings:4umy.A,PDB-ENSP_mappings:4umy.B,PDB-ENSP_mappings:4xrx.A,PDB-ENSP_mappings:4xrx.B,PDB-ENSP_mappings:4xs3.A,PDB-ENSP_mappings:4xs3.B,PDB-ENSP_mappings:5de1.A,PDB-ENSP_mappings:5de1.B,PDB-ENSP_mappings:5gir.C,PDB-ENSP_mappings:5gir.D,PDB-ENSP_mappings:5k10.A,PDB-ENSP_mappings:5k10.B,PDB-ENSP_mappings:5k11.A,PDB-ENSP_mappings:5k11.B,PDB-ENSP_mappings:5l57.A,PDB-ENSP_mappings:5l58.A,PDB-ENSP_mappings:5lge.A,PDB-ENSP_mappings:5lge.B,PDB-ENSP_mappings:5lge.C,PDB-ENSP_mappings:5lge.D,PDB-ENSP_mappings:5sun.A,PDB-ENSP_mappings:5sun.B,PDB-ENSP_mappings:5svf.A,PDB-ENSP_mappings:5svf.B,PDB-ENSP_mappings:5svf.C,PDB-ENSP_mappings:5svf.D,PDB-ENSP_mappings:5tqh.A,PDB-ENSP_mappings:5tqh.B,PDB-ENSP_mappings:5tqh.C,PDB-ENSP_mappings:5tqh.D,PDB-ENSP_mappings:5yfm.A,PDB-ENSP_mappings:5yfm.B,PDB-ENSP_mappings:5yfm.C,PDB-ENSP_mappings:5yfn.A,PDB-ENSP_mappings:5yfn.B,PDB-ENSP_mappings:6b0z.A,PDB-ENSP_mappings:6b0z.B,PDB-ENSP_mappings:6b0z.C,PDB-ENSP_mappings:6b0z.D,Pfam_domain:PF00180,PIRSF_domain:PIRSF000108,hmmpanther:PTHR11822,hmmpanther:PTHR11822:SF21,SMART_domains:SM01329,Superfamily_domains:SSF53659,TIGRFAM_domain:TIGR00127 not_provided,likely_pathogenic,pathogenic 0,0,1,1 18772396,21446021,25043048 MODERATE 1 SNV 1 1,1,1,1 1 PASS ACG . . 208248388 IHH . GRCh38 chr2 219060466 219060466 + Translation_Start_Site SNP A A C novel 7316-230 BS_K44TMQ9G A A c.2T>G p.Met1? p.M1? ENST00000295731 1/3 57 40 12 55 54 1 IHH,start_lost,p.Met1?,ENST00000295731,NM_002181.3;MIR3131,upstream_gene_variant,,ENST00000583592,; C ENSG00000163501 ENST00000295731 Transcript start_lost 2/2023 2/1236 1/411 M/R aTg/aGg 1 -1 IHH HGNC HGNC:5956 protein_coding YES CCDS33380.1 ENSP00000295731 Q14623 UPI0000035883 NM_002181.3 deleterious_low_confidence(0) benign(0) 1/3 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 1 PASS CAT . . 219060466 SCG2 . GRCh38 chr2 223597934 223597934 + Missense_Mutation SNP G G A rs752879454 7316-230 BS_K44TMQ9G G G c.1349C>T p.Thr450Met p.T450M ENST00000305409 2/2 71 55 14 30 30 0 SCG2,missense_variant,p.Thr450Met,ENST00000305409,NM_003469.4;SCG2,downstream_gene_variant,,ENST00000421386,;SCG2,downstream_gene_variant,,ENST00000433889,; A ENSG00000171951 ENST00000305409 Transcript missense_variant 1582/2576 1349/1854 450/617 T/M aCg/aTg rs752879454,COSM6565076,COSM4464726 1 -1 SCG2 HGNC HGNC:10575 protein_coding YES CCDS2457.1 ENSP00000304133 P13521 UPI000013EA45 NM_003469.4 deleterious(0.01) benign(0.083) 2/2 hmmpanther:PTHR15119,hmmpanther:PTHR15119:SF0,Pfam_domain:PF01271 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGT . . 1.218e-05 6.537e-05 2.978e-05 3.249e-05 223597934 ECEL1 . GRCh38 chr2 232486430 232486430 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.224T>G p.Ile75Ser p.I75S ENST00000304546 2/18 45 34 8 42 41 0 ECEL1,missense_variant,p.Ile75Ser,ENST00000304546,NM_004826.3;ECEL1,missense_variant,p.Ile75Ser,ENST00000409941,NM_001290787.1;ECEL1,upstream_gene_variant,,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;,regulatory_region_variant,,ENSR00000131948,; C ENSG00000171551 ENST00000304546 Transcript missense_variant 435/2865 224/2328 75/775 I/S aTt/aGt 1 -1 ECEL1 HGNC HGNC:3147 protein_coding YES CCDS2493.1 ENSP00000302051 O95672 UPI000013E997 NM_004826.3 deleterious(0) possibly_damaging(0.829) 2/18 Transmembrane_helices:TMhelix,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF195 MODERATE 1 SNV 1 1 PASS AAT . . 232486430 ERFE . GRCh38 chr2 238163955 238163955 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.643T>G p.Leu215Val p.L215V ENST00000546354 4/8 41 33 7 36 35 1 ERFE,missense_variant,p.Leu215Val,ENST00000546354,NM_001291832.1;ERFE,upstream_gene_variant,,ENST00000344233,;ERFE,upstream_gene_variant,,ENST00000357303,;ERFE,non_coding_transcript_exon_variant,,ENST00000486834,;ERFE,non_coding_transcript_exon_variant,,ENST00000481917,;ERFE,upstream_gene_variant,,ENST00000473274,;ERFE,upstream_gene_variant,,ENST00000479091,;,regulatory_region_variant,,ENSR00000132792,; G ENSG00000178752 ENST00000546354 Transcript missense_variant 643/1065 643/1065 215/354 L/V Ttg/Gtg 1 1 ERFE HGNC HGNC:26727 protein_coding YES CCDS77548.1 ENSP00000442304 Q4G0M1 UPI0000F07B77 NM_001291832.1 tolerated(0.32) benign(0.179) 4/8 PROSITE_profiles:PS50871,hmmpanther:PTHR24019,hmmpanther:PTHR24019:SF11 MODERATE 1 SNV 1 PASS GTT . . 238163955 STT3B . GRCh38 chr3 31532999 31532999 + Translation_Start_Site SNP A A C novel 7316-230 BS_K44TMQ9G A A c.1A>C p.Met1? p.M1? ENST00000295770 1/16 40 32 6 39 37 0 STT3B,start_lost,p.Met1?,ENST00000295770,NM_178862.2;STT3B,non_coding_transcript_exon_variant,,ENST00000453168,;STT3B,non_coding_transcript_exon_variant,,ENST00000423527,;STT3B,upstream_gene_variant,,ENST00000462235,;,regulatory_region_variant,,ENSR00000150420,;,TF_binding_site_variant,,MA0095.2,; C ENSG00000163527 ENST00000295770 Transcript start_lost 210/4248 1/2481 1/826 M/L Atg/Ctg 1 1 STT3B HGNC HGNC:30611 protein_coding YES CCDS2650.1 ENSP00000295770 Q8TCJ2 UPI000006D7FB NM_178862.2 deleterious_low_confidence(0) benign(0.007) 1/16 mobidb-lite HIGH 1 SNV 1 1 PASS CAT . . 31532999 GPR62 . GRCh38 chr3 51956052 51956052 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.400A>C p.Thr134Pro p.T134P ENST00000322241 1/1 64 53 8 46 45 1 GPR62,missense_variant,p.Thr134Pro,ENST00000322241,NM_080865.3;PCBP4,downstream_gene_variant,,ENST00000322099,NM_033010.2;PCBP4,downstream_gene_variant,,ENST00000355852,NM_033008.2;PCBP4,downstream_gene_variant,,ENST00000428823,;PCBP4,downstream_gene_variant,,ENST00000461544,;PCBP4,downstream_gene_variant,,ENST00000461554,NM_001174100.1;PCBP4,downstream_gene_variant,,ENST00000466412,;PCBP4,downstream_gene_variant,,ENST00000468324,;PCBP4,downstream_gene_variant,,ENST00000471622,;PCBP4,downstream_gene_variant,,ENST00000483411,;PCBP4,downstream_gene_variant,,ENST00000484633,NM_020418.3;PCBP4,downstream_gene_variant,,ENST00000489595,;PCBP4,downstream_gene_variant,,ENST00000490063,;PCBP4,downstream_gene_variant,,ENST00000497653,;AC115284.2,upstream_gene_variant,,ENST00000624646,;PCBP4,downstream_gene_variant,,ENST00000471308,;PCBP4,downstream_gene_variant,,ENST00000471358,;PCBP4,downstream_gene_variant,,ENST00000492809,;PCBP4,downstream_gene_variant,,ENST00000497390,;PCBP4,downstream_gene_variant,,ENST00000498822,;,regulatory_region_variant,,ENSR00000152456,; C ENSG00000180929 ENST00000322241 Transcript missense_variant 739/2191 400/1107 134/368 T/P Acc/Ccc 1 1 GPR62 HGNC HGNC:13301 protein_coding YES CCDS2838.1 ENSP00000319250 Q9BZJ7 UPI0000457117 NM_080865.3 deleterious(0.02) benign(0.229) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR22752,hmmpanther:PTHR22752:SF6,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15220,Low_complexity_(Seg):seg MODERATE SNV PASS CAC . . 51956052 PRKCD . GRCh38 chr3 53186617 53186617 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.1274T>G p.Phe425Cys p.F425C ENST00000394729 13/18 65 56 7 46 46 0 PRKCD,missense_variant,p.Phe425Cys,ENST00000394729,NM_212539.1;PRKCD,missense_variant,p.Phe425Cys,ENST00000330452,NM_001316327.1,NM_006254.3;PRKCD,downstream_gene_variant,,ENST00000464818,; G ENSG00000163932 ENST00000394729 Transcript missense_variant 1602/2810 1274/2031 425/676 F/C tTt/tGt 1 1 PRKCD HGNC HGNC:9399 protein_coding YES CCDS2870.1 ENSP00000378217 Q05655 A0A024R328 UPI000000DA36 NM_212539.1 deleterious(0.01) probably_damaging(0.999) 13/18 cd05620,PIRSF_domain:PIRSF501104,Pfam_domain:PF00069,PIRSF_domain:PIRSF000551,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF177,hmmpanther:PTHR24356 MODERATE 1 SNV 1 1 PASS TTT . . 53186617 CACNA2D3 . GRCh38 chr3 54122763 54122763 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.50T>G p.Leu17Arg p.L17R ENST00000474759 1/38 38 32 6 26 26 0 CACNA2D3,missense_variant,p.Leu17Arg,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Leu17Arg,ENST00000288197,;CACNA2D3,missense_variant,p.Leu17Arg,ENST00000415676,;CACNA2D3,upstream_gene_variant,,ENST00000490478,;CACNA2D3,upstream_gene_variant,,ENST00000620722,;CACNA2D3,upstream_gene_variant,,ENST00000471363,;CACNA2D3,upstream_gene_variant,,ENST00000477024,;,regulatory_region_variant,,ENSR00000152714,; G ENSG00000157445 ENST00000474759 Transcript missense_variant 98/3675 50/3276 17/1091 L/R cTt/cGt 1 1 CACNA2D3 HGNC HGNC:15460 protein_coding YES CCDS54598.1 ENSP00000419101 Q8IZS8 UPI000004A7BF NM_018398.2 tolerated_low_confidence(0.1) possibly_damaging(0.5) 1/38 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 PASS CTT . . 54122763 CCDC58 . GRCh38 chr3 122383224 122383224 + Translation_Start_Site SNP T T G 7316-230 BS_K44TMQ9G T T c.1A>C p.Met1? p.M1? ENST00000291458 1/5 59 52 5 33 33 0 CCDC58,start_lost,p.Met1?,ENST00000291458,NM_001017928.3;CCDC58,start_lost,p.Met1?,ENST00000497726,;CCDC58,5_prime_UTR_variant,,ENST00000479899,NM_001308326.1;FAM162A,upstream_gene_variant,,ENST00000232125,;FAM162A,upstream_gene_variant,,ENST00000469967,;FAM162A,upstream_gene_variant,,ENST00000477892,NM_014367.3;CCDC58,non_coding_transcript_exon_variant,,ENST00000498466,;,regulatory_region_variant,,ENSR00000157315,;,TF_binding_site_variant,,MA0095.2,; G ENSG00000160124 ENST00000291458 Transcript start_lost 8/720 1/435 1/144 M/L Atg/Ctg COSM5639693 1 -1 CCDC58 HGNC HGNC:31136 protein_coding YES CCDS33838.1 ENSP00000291458 Q4VC31 UPI000020A069 NM_001017928.3 deleterious(0) possibly_damaging(0.661) 1/5 hmmpanther:PTHR31905 1 HIGH 1 SNV 1 1 PASS ATA . . 122383224 CFAP100 . GRCh38 chr3 126418611 126418611 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.487T>G p.Tyr163Asp p.Y163D ENST00000352312 7/17 67 56 8 41 41 0 CFAP100,missense_variant,p.Tyr163Asp,ENST00000352312,NM_182628.2;CFAP100,missense_variant,p.Tyr164Asp,ENST00000505024,;CFAP100,downstream_gene_variant,,ENST00000510833,;CFAP100,upstream_gene_variant,,ENST00000507830,;CFAP100,downstream_gene_variant,,ENST00000533201,;CFAP100,splice_region_variant,,ENST00000503905,; G ENSG00000163885 ENST00000352312 Transcript missense_variant,splice_region_variant 586/2086 487/1836 163/611 Y/D Tat/Gat 1 1 CFAP100 HGNC HGNC:26842 protein_coding YES CCDS3037.1 ENSP00000344749 Q494V2 UPI000013E315 NM_182628.2 deleterious(0) probably_damaging(0.995) 7/17 hmmpanther:PTHR21683,hmmpanther:PTHR21683:SF5,Pfam_domain:PF13863 MODERATE 1 SNV 2 PASS GTA . . 126418611 H1FX . GRCh38 chr3 129315854 129315854 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.49A>C p.Met17Leu p.M17L ENST00000333762 1/1 50 34 13 44 44 0 H1FX,missense_variant,p.Met17Leu,ENST00000333762,NM_006026.3;H1FX-AS1,non_coding_transcript_exon_variant,,ENST00000511998,;H1FX-AS1,intron_variant,,ENST00000433902,;H1FX-AS1,upstream_gene_variant,,ENST00000383461,;H1FX-AS1,upstream_gene_variant,,ENST00000502789,;,regulatory_region_variant,,ENSR00000158211,; G ENSG00000184897 ENST00000333762 Transcript missense_variant 424/1507 49/642 17/213 M/L Atg/Ctg 1 -1 H1FX HGNC HGNC:4722 protein_coding YES CCDS3057.1 ENSP00000329662 Q92522 UPI000012BF2F NM_006026.3 tolerated(0.14) benign(0) 1/1 hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF21 MODERATE SNV PASS ATT . . 129315854 TNK2 . GRCh38 chr3 195867561 195867561 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.2926A>C p.Ser976Arg p.S976R ENST00000381916 13/15 50 33 10 50 46 1 TNK2,missense_variant,p.Ser898Arg,ENST00000333602,NM_005781.4;TNK2,missense_variant,p.Ser930Arg,ENST00000428187,NM_001308046.1;TNK2,missense_variant,p.Ser976Arg,ENST00000381916,NM_001010938.1;TNK2,missense_variant,p.Ser465Arg,ENST00000416152,;TNK2,downstream_gene_variant,,ENST00000411741,;TNK2,downstream_gene_variant,,ENST00000424563,;TNK2,downstream_gene_variant,,ENST00000478623,;TNK2,downstream_gene_variant,,ENST00000486523,;TNK2,downstream_gene_variant,,ENST00000495247,;TNK2,non_coding_transcript_exon_variant,,ENST00000420716,;TNK2,downstream_gene_variant,,ENST00000439230,;TNK2,downstream_gene_variant,,ENST00000464041,;TNK2,downstream_gene_variant,,ENST00000468680,;TNK2,downstream_gene_variant,,ENST00000478715,;TNK2,downstream_gene_variant,,ENST00000481865,;TNK2,downstream_gene_variant,,ENST00000489628,; G ENSG00000061938 ENST00000381916 Transcript missense_variant 3071/4223 2926/3261 976/1086 S/R Agc/Cgc 1 -1 TNK2 HGNC HGNC:19297 protein_coding YES CCDS33927.1 ENSP00000371341 Q07912 UPI00004C9B08 NM_001010938.1 tolerated_low_confidence(0.38) benign(0.001) 13/15 hmmpanther:PTHR14254,hmmpanther:PTHR14254:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS CTG . . 195867561 HERC5 . GRCh38 chr4 88457513 88457513 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.244A>C p.Ser82Arg p.S82R ENST00000264350 1/23 69 60 6 40 40 0 HERC5,missense_variant,p.Ser82Arg,ENST00000264350,NM_016323.3;HERC5,upstream_gene_variant,,ENST00000508695,;,regulatory_region_variant,,ENSR00000170578,; C ENSG00000138646 ENST00000264350 Transcript missense_variant 397/3513 244/3075 82/1024 S/R Agc/Cgc 1 1 HERC5 HGNC HGNC:24368 protein_coding YES CCDS3630.1 ENSP00000264350 Q9UII4 UPI000013D500 NM_016323.3 tolerated(0.25) benign(0.015) 1/23 Gene3D:2.130.10.30,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF344 MODERATE 1 SNV 1 PASS GAG . . 88457513 IRX1 . GRCh38 chr5 3596164 3596164 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.59A>C p.Tyr20Ser p.Y20S ENST00000302006 1/4 35 24 8 39 36 1 IRX1,missense_variant,p.Tyr20Ser,ENST00000302006,NM_024337.3;AC016595.1,downstream_gene_variant,,ENST00000559410,; C ENSG00000170549 ENST00000302006 Transcript missense_variant 111/1858 59/1443 20/480 Y/S tAc/tCc 1 1 IRX1 HGNC HGNC:14358 protein_coding YES CCDS34132.1 ENSP00000305244 P78414 UPI00001B6455 NM_024337.3 deleterious(0.01) probably_damaging(0.991) 1/4 hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211 MODERATE 1 SNV 1 PASS TAC . . 3596164 PROB1 . GRCh38 chr5 139392479 139392479 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.2603A>C p.Gln868Pro p.Q868P ENST00000434752 1/1 59 44 11 49 45 1 PROB1,missense_variant,p.Gln868Pro,ENST00000434752,NM_001161546.1;SPATA24,downstream_gene_variant,,ENST00000302091,;MZB1,upstream_gene_variant,,ENST00000302125,NM_016459.3;SPATA24,downstream_gene_variant,,ENST00000450845,NM_194296.1;SPATA24,downstream_gene_variant,,ENST00000512761,;SPATA24,downstream_gene_variant,,ENST00000514983,;MZB1,upstream_gene_variant,,ENST00000417694,;MZB1,upstream_gene_variant,,ENST00000503120,;MZB1,upstream_gene_variant,,ENST00000503351,;MZB1,upstream_gene_variant,,ENST00000503481,;MZB1,upstream_gene_variant,,ENST00000509591,;MZB1,upstream_gene_variant,,ENST00000511979,;MZB1,upstream_gene_variant,,ENST00000513389,;,regulatory_region_variant,,ENSR00000317495,; G ENSG00000228672 ENST00000434752 Transcript missense_variant 3235/5122 2603/3048 868/1015 Q/P cAg/cCg 1 -1 PROB1 HGNC HGNC:41906 protein_coding YES CCDS54909.1 ENSP00000416033 E7EW31 UPI00001974A9 NM_001161546.1 deleterious_low_confidence(0.04) possibly_damaging(0.566) 1/1 hmmpanther:PTHR33775,hmmpanther:PTHR33775:SF1,mobidb-lite MODERATE SNV PASS CTG . . 139392479 PDLIM7 . GRCh38 chr5 177489480 177489480 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.782T>G p.Ile261Ser p.I261S ENST00000355841 9/13 86 73 13 41 39 0 PDLIM7,missense_variant,p.Ile261Ser,ENST00000355841,NM_005451.4;PDLIM7,missense_variant,p.Ile227Ser,ENST00000359895,NM_203352.2;PDLIM7,missense_variant,p.His240Gln,ENST00000393551,;PDLIM7,downstream_gene_variant,,ENST00000355572,NM_213636.2;PDLIM7,downstream_gene_variant,,ENST00000393546,;PDLIM7,downstream_gene_variant,,ENST00000505074,;PDLIM7,downstream_gene_variant,,ENST00000506161,;PDLIM7,downstream_gene_variant,,ENST00000506537,;PDLIM7,upstream_gene_variant,,ENST00000505746,;PDLIM7,3_prime_UTR_variant,,ENST00000486828,;PDLIM7,3_prime_UTR_variant,,ENST00000493815,;PDLIM7,downstream_gene_variant,,ENST00000463411,;PDLIM7,downstream_gene_variant,,ENST00000503346,;PDLIM7,downstream_gene_variant,,ENST00000503827,;PDLIM7,downstream_gene_variant,,ENST00000504318,; C ENSG00000196923 ENST00000355841 Transcript missense_variant 849/1689 782/1374 261/457 I/S aTt/aGt 1 -1 PDLIM7 HGNC HGNC:22958 protein_coding YES CCDS4422.1 ENSP00000348099 Q9NR12 UPI0000073DEF NM_005451.4 tolerated(0.06) benign(0.367) 9/13 hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF0 MODERATE 1 SNV 1 PASS AAT . . 177489480 HNRNPAB . GRCh38 chr5 178204989 178204989 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.152A>C p.Asn51Thr p.N51T ENST00000358344 2/8 66 52 11 32 29 0 HNRNPAB,missense_variant,p.Asn51Thr,ENST00000358344,NM_031266.2;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000504898,;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000506339,;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000506259,;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000355836,NM_004499.3;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000515193,;HNRNPAB,missense_variant,p.Asn51Thr,ENST00000514633,;PHYKPL,downstream_gene_variant,,ENST00000308158,NM_153373.3,NM_001278346.1;PHYKPL,downstream_gene_variant,,ENST00000481811,;PHYKPL,downstream_gene_variant,,ENST00000393488,;PHYKPL,downstream_gene_variant,,ENST00000474052,;PHYKPL,downstream_gene_variant,,ENST00000481436,;PHYKPL,downstream_gene_variant,,ENST00000489262,;PHYKPL,downstream_gene_variant,,ENST00000493197,;PHYKPL,downstream_gene_variant,,ENST00000494126,;HNRNPAB,upstream_gene_variant,,ENST00000504796,;PHYKPL,downstream_gene_variant,,ENST00000510991,;,regulatory_region_variant,,ENSR00000191416,; C ENSG00000197451 ENST00000358344 Transcript missense_variant 409/1796 152/999 51/332 N/T aAt/aCt 1 1 HNRNPAB HGNC HGNC:5034 protein_coding YES CCDS34309.1 ENSP00000351108 Q99729 UPI0000070026 NM_031266.2 tolerated(0.67) benign(0.105) 2/8 Gene3D:3.30.70.330,Pfam_domain:PF08143,hmmpanther:PTHR44212,hmmpanther:PTHR44212:SF2,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 178204989 LTC4S . GRCh38 chr5 179795814 179795814 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.187T>G p.Phe63Val p.F63V ENST00000292596 3/5 68 51 10 56 55 1 LTC4S,missense_variant,p.Phe63Val,ENST00000292596,NM_145867.1;LTC4S,missense_variant,p.Phe63Val,ENST00000486713,;LTC4S,intron_variant,,ENST00000401985,;MGAT4B,downstream_gene_variant,,ENST00000292591,NM_014275.4;MGAT4B,downstream_gene_variant,,ENST00000337755,NM_054013.3;MGAT4B,downstream_gene_variant,,ENST00000518778,;MGAT4B,downstream_gene_variant,,ENST00000518867,;MGAT4B,downstream_gene_variant,,ENST00000518980,;MGAT4B,downstream_gene_variant,,ENST00000519836,;MGAT4B,downstream_gene_variant,,ENST00000520875,;MGAT4B,downstream_gene_variant,,ENST00000520969,;MGAT4B,downstream_gene_variant,,ENST00000523108,;MIR1229,downstream_gene_variant,,ENST00000408467,;MGAT4B,downstream_gene_variant,,ENST00000521305,;MGAT4B,downstream_gene_variant,,ENST00000522293,;MGAT4B,downstream_gene_variant,,ENST00000523382,;LTC4S,missense_variant,p.Val57Gly,ENST00000505170,;LTC4S,non_coding_transcript_exon_variant,,ENST00000465572,;LTC4S,non_coding_transcript_exon_variant,,ENST00000466071,;LTC4S,non_coding_transcript_exon_variant,,ENST00000509898,;LTC4S,non_coding_transcript_exon_variant,,ENST00000510544,;MGAT4B,downstream_gene_variant,,ENST00000518702,;MGAT4B,downstream_gene_variant,,ENST00000520822,;MGAT4B,downstream_gene_variant,,ENST00000520918,;MGAT4B,downstream_gene_variant,,ENST00000521855,;MGAT4B,downstream_gene_variant,,ENST00000522451,;,regulatory_region_variant,,ENSR00000191592,; G ENSG00000213316 ENST00000292596 Transcript missense_variant 282/666 187/453 63/150 F/V Ttc/Gtc 1 1 LTC4S HGNC HGNC:6719 protein_coding YES CCDS34316.1 ENSP00000292596 Q16873 UPI0000043F83 NM_145867.1 deleterious(0.02) possibly_damaging(0.484) 3/5 PDB-ENSP_mappings:2pno.A,PDB-ENSP_mappings:2pno.B,PDB-ENSP_mappings:2pno.C,PDB-ENSP_mappings:2pno.D,PDB-ENSP_mappings:2pno.E,PDB-ENSP_mappings:2pno.F,PDB-ENSP_mappings:2pno.G,PDB-ENSP_mappings:2pno.H,PDB-ENSP_mappings:2pno.I,PDB-ENSP_mappings:2pno.J,PDB-ENSP_mappings:2pno.K,PDB-ENSP_mappings:2pno.L,PDB-ENSP_mappings:2uuh.A,PDB-ENSP_mappings:2uui.A,PDB-ENSP_mappings:3b29.A,PDB-ENSP_mappings:3hkk.A,PDB-ENSP_mappings:3leo.A,PDB-ENSP_mappings:3pcv.A,PDB-ENSP_mappings:4j7t.A,PDB-ENSP_mappings:4j7y.A,PDB-ENSP_mappings:4jc7.A,PDB-ENSP_mappings:4jcz.A,PDB-ENSP_mappings:4jrz.A,PDB-ENSP_mappings:5hv9.A,hmmpanther:PTHR10250:SF4,hmmpanther:PTHR10250,Gene3D:1.20.120.550,Pfam_domain:PF01124,Superfamily_domains:SSF161084,Prints_domain:PR00488 MODERATE 1 SNV 1 1 PASS GTT . . 179795814 FOXC1 . GRCh38 chr6 1611312 1611312 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.867T>G p.Asp289Glu p.D289E ENST00000380874 1/1 33 22 6 35 33 0 FOXC1,missense_variant,p.Asp289Glu,ENST00000380874,;FOXC1,missense_variant,p.Asp289Glu,ENST00000645831,NM_001453.2;,regulatory_region_variant,,ENSR00000191970,; G ENSG00000054598 ENST00000380874 Transcript missense_variant 1341/3926 867/1662 289/553 D/E gaT/gaG 1 1 FOXC1 HGNC HGNC:3800 protein_coding YES CCDS4473.1 ENSP00000370256 Q12948 W6CJ52 UPI000012ADC5 tolerated(1) benign(0) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF166,mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 1611312 SOX4 . GRCh38 chr6 21595004 21595004 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.470A>C p.Lys157Thr p.K157T ENST00000244745 1/1 40 30 8 42 39 1 SOX4,missense_variant,p.Lys157Thr,ENST00000244745,NM_003107.2;AL512380.2,intron_variant,,ENST00000637901,;,regulatory_region_variant,,ENSR00000194547,; C ENSG00000124766 ENST00000244745 Transcript missense_variant 2237/5852 470/1425 157/474 K/T aAg/aCg 1 1 SOX4 HGNC HGNC:11200 protein_coding YES CCDS4547.1 ENSP00000244745 Q06945 UPI0000047FA0 NM_003107.2 deleterious(0) possibly_damaging(0.886) 1/1 Gene3D:1.10.30.10,PIRSF_domain:PIRSF038098,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF27,mobidb-lite MODERATE SNV PASS AAG . . 21595004 MDC1 . GRCh38 chr6 30705308 30705308 + Missense_Mutation SNP C C A 7316-230 BS_K44TMQ9G C C c.3875G>T p.Arg1292Leu p.R1292L ENST00000376406 10/15 58 41 9 51 44 0 MDC1,missense_variant,p.Arg1292Leu,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4523/7576 3875/6270 1292/2089 R/L cGg/cTg COSM3733953,COSM3733952 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 deleterious(0) benign(0.007) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 1,1 MODERATE SNV 5 1,1 PASS CCG . . 30705308 RUNX2 . GRCh38 chr6 45422729 45422729 + Missense_Mutation SNP A A C 7316-230 BS_K44TMQ9G A A c.195A>C p.Gln65His p.Q65H ENST00000371438 2/8 45 37 7 36 35 1 RUNX2,missense_variant,p.Gln65His,ENST00000371438,;RUNX2,missense_variant,p.Gln65His,ENST00000647337,NM_001024630.3;RUNX2,missense_variant,p.Gln65His,ENST00000371432,NM_001015051.3;RUNX2,missense_variant,p.Gln51His,ENST00000359524,;RUNX2,missense_variant,p.Gln65His,ENST00000576263,;RUNX2,missense_variant,p.Gln65His,ENST00000465038,;RUNX2,missense_variant,p.Gln65His,ENST00000371436,;RUNX2,missense_variant,p.Gln51His,ENST00000625924,NM_001278478.1;AL096865.1,upstream_gene_variant,,ENST00000606796,;RUNX2,missense_variant,p.Gln51His,ENST00000646519,;RUNX2,missense_variant,p.Gln51His,ENST00000478660,;RUNX2,intron_variant,,ENST00000483377,;,regulatory_region_variant,,ENSR00000197434,; C ENSG00000124813 ENST00000371438 Transcript missense_variant 553/5698 195/1566 65/521 Q/H caA/caC COSM3783993,COSM3783992 1 1 RUNX2 HGNC HGNC:10472 protein_coding YES CCDS43467.2 ENSP00000360493 Q13950 UPI000013532F tolerated_low_confidence(0.26) benign(0.007) 2/8 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7,PIRSF_domain:PIRSF009374,Gene3D:1.10.110.10 1,1 MODERATE 1 SNV 5 1,1 1 PASS AAC . . 45422729 INTS1 . GRCh38 chr7 1480832 1480832 + Splice_Region SNP T T G novel 7316-230 BS_K44TMQ9G T T c.3949+3A>C ENST00000404767 73 57 11 41 40 0 INTS1,splice_region_variant,,ENST00000404767,NM_001080453.2;INTS1,downstream_gene_variant,,ENST00000468115,;INTS1,upstream_gene_variant,,ENST00000482994,;,regulatory_region_variant,,ENSR00000207611,; G ENSG00000164880 ENST00000404767 Transcript splice_region_variant,intron_variant 1 -1 INTS1 HGNC HGNC:24555 protein_coding YES CCDS47526.1 ENSP00000385722 Q8N201 UPI0000D7211C NM_001080453.2 29/47 LOW 1 SNV 5 PASS GTA . . 1480832 RADIL . GRCh38 chr7 4803543 4803543 + Splice_Region SNP T T G 7316-230 BS_K44TMQ9G T T c.2499+3A>C ENST00000399583 70 52 7 55 50 0 RADIL,splice_region_variant,,ENST00000399583,NM_018059.4;RADIL,splice_region_variant,,ENST00000445392,;RADIL,splice_region_variant,,ENST00000472999,;RADIL,splice_region_variant,,ENST00000473130,;RADIL,downstream_gene_variant,,ENST00000469399,; G ENSG00000157927 ENST00000399583 Transcript splice_region_variant,intron_variant COSM5662312 1 -1 RADIL HGNC HGNC:22226 protein_coding YES CCDS43544.1 ENSP00000382492 Q96JH8 UPI0000E0A787 NM_018059.4 11/14 1 LOW 1 SNV 5 1 PASS GTA . . 4803543 VWC2 . GRCh38 chr7 49775614 49775614 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.179A>C p.Asn60Thr p.N60T ENST00000340652 2/4 73 57 10 42 42 0 VWC2,missense_variant,p.Asn60Thr,ENST00000340652,NM_198570.4;,regulatory_region_variant,,ENSR00000212360,; C ENSG00000188730 ENST00000340652 Transcript missense_variant 735/11299 179/978 60/325 N/T aAc/aCc 1 1 VWC2 HGNC HGNC:30200 protein_coding YES CCDS5508.1 ENSP00000341819 Q2TAL6 UPI00002373A5 NM_198570.4 tolerated_low_confidence(0.09) benign(0.01) 2/4 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 49775614 ZNF92 . GRCh38 chr7 65399451 65399451 + Missense_Mutation SNP A A T rs1372611702 7316-230 BS_K44TMQ9G A A c.1337A>T p.Asn446Ile p.N446I ENST00000328747 4/4 67 54 9 41 40 0 ZNF92,missense_variant,p.Asn446Ile,ENST00000328747,NM_152626.3;ZNF92,missense_variant,p.Asn414Ile,ENST00000357512,NM_001287532.1;ZNF92,missense_variant,p.Asn377Ile,ENST00000450302,NM_007139.3;ZNF92,missense_variant,p.Asn370Ile,ENST00000431504,NM_001287534.1,NM_001287533.1;,regulatory_region_variant,,ENSR00000212862,; T ENSG00000146757 ENST00000328747 Transcript missense_variant 1536/3210 1337/1761 446/586 N/I aAt/aTt rs1372611702 1 1 ZNF92 HGNC HGNC:13168 protein_coding YES CCDS34646.1 ENSP00000332595 Q03936 V9HVY7 UPI0000073CE6 NM_152626.3 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAT . . 65399451 SRRM3 . GRCh38 chr7 76235209 76235209 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.143A>C p.Lys48Thr p.K48T ENST00000611745 2/15 56 38 14 33 33 0 SRRM3,missense_variant,p.Lys48Thr,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,non_coding_transcript_exon_variant,,ENST00000479294,;,regulatory_region_variant,,ENSR00000213884,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 350/3612 143/1962 48/653 K/T aAg/aCg 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 deleterious(0.03) probably_damaging(1) 2/15 hmmpanther:PTHR45041,mobidb-lite MODERATE 1 SNV 5 PASS AAG . . 76235209 ZAN . GRCh38 chr7 100752959 100752959 + Missense_Mutation SNP C C A rs199651674 7316-230 BS_K44TMQ9G C C c.2854C>A p.Pro952Thr p.P952T ENST00000613979 14/48 37 24 8 25 25 0 ZAN,missense_variant,p.Pro952Thr,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Pro952Thr,ENST00000618565,;ZAN,missense_variant,p.Pro952Thr,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Pro952Thr,ENST00000546292,;ZAN,missense_variant,p.Pro952Thr,ENST00000542585,;ZAN,missense_variant,p.Pro952Thr,ENST00000538115,;ZAN,missense_variant,p.Pro952Thr,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,; A ENSG00000146839 ENST00000613979 Transcript missense_variant 3019/8669 2854/8439 952/2812 P/T Cca/Aca rs199651674,COSM6236886 1 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 A0A087WU49 UPI000441C79E NM_003386.2 tolerated(1) benign(0) 14/48 0.0014 0.003 0.002 0.001 0.0008095 0,1 MODERATE 1 SNV 1 0,1 PASS CCC . . 3.918e-05 0.0001016 6.732e-05 1.872e-05 0.0001062 100752959 ZAN . GRCh38 chr7 100771849 100771849 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.5254T>G p.Phe1752Val p.F1752V ENST00000613979 29/48 63 55 8 38 38 0 ZAN,missense_variant,p.Phe1752Val,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Phe1752Val,ENST00000618565,;ZAN,missense_variant,p.Phe1752Val,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Phe1752Val,ENST00000546292,;ZAN,missense_variant,p.Phe1752Val,ENST00000542585,;ZAN,missense_variant,p.Phe1752Val,ENST00000538115,;ZAN,missense_variant,p.Phe1752Val,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,; G ENSG00000146839 ENST00000613979 Transcript missense_variant 5419/8669 5254/8439 1752/2812 F/V Ttc/Gtc 1 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 A0A087WU49 UPI000441C79E NM_003386.2 deleterious(0) probably_damaging(0.998) 29/48 PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF367,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832 MODERATE 1 SNV 1 PASS CTT . . 100771849 MUC3A . GRCh38 chr7 100966411 100966411 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.9637T>G p.Phe3213Val p.F3213V ENST00000379458 9/12 159 135 18 80 78 1 MUC3A,missense_variant,p.Phe3213Val,ENST00000379458,NM_005960.1;MUC3A,intron_variant,,ENST00000483366,;MUC12,upstream_gene_variant,,ENST00000379442,;MUC12,upstream_gene_variant,,ENST00000536621,NM_001164462.1;AC254629.1,non_coding_transcript_exon_variant,,ENST00000618276,;AC254629.1,upstream_gene_variant,,ENST00000610769,;MUC3A,3_prime_UTR_variant,,ENST00000414964,;MUC3A,non_coding_transcript_exon_variant,,ENST00000614399,;,regulatory_region_variant,,ENSR00000215881,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 9707/11226 9637/9972 3213/3323 F/V Ttc/Gtc 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 deleterious_low_confidence(0.04) benign(0.009) 9/12 Gene3D:2.10.25.10,hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,SMART_domains:SM00181 MODERATE SNV 5 PASS GTT . . 100966411 MUC17 . GRCh38 chr7 101032078 101032078 + Missense_Mutation SNP T T A novel 7316-230 BS_K44TMQ9G T T c.662T>A p.Met221Lys p.M221K ENST00000306151 3/13 81 69 7 45 44 0 MUC17,missense_variant,p.Met221Lys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Met221Lys,ENST00000379439,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 726/14247 662/13482 221/4493 M/K aTg/aAg 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.08) benign(0.017) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS ATG . . 101032078 TRIM56 . GRCh38 chr7 101087988 101087988 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.676A>C p.Asn226His p.N226H ENST00000306085 3/3 75 59 9 42 41 0 TRIM56,missense_variant,p.Asn226His,ENST00000306085,NM_030961.2;TRIM56,missense_variant,p.Asn226His,ENST00000412507,;TRIM56,downstream_gene_variant,,ENST00000467847,;TRIM56,upstream_gene_variant,,ENST00000487252,; C ENSG00000169871 ENST00000306085 Transcript missense_variant 973/10952 676/2268 226/755 N/H Aac/Cac 1 1 TRIM56 HGNC HGNC:19028 protein_coding YES CCDS43625.1 ENSP00000305161 Q9BRZ2 UPI0000171C4A NM_030961.2 tolerated(0.2) benign(0) 3/3 hmmpanther:PTHR43989 MODERATE 1 SNV 1 PASS TAA . . 101087988 CREB3L2 . GRCh38 chr7 138001704 138001704 + Translation_Start_Site SNP A A C novel 7316-230 BS_K44TMQ9G A A c.2T>G p.Met1? p.M1? ENST00000330387 1/12 62 49 12 60 59 0 CREB3L2,start_lost,p.Met1?,ENST00000330387,NM_194071.3,NM_001318246.1;CREB3L2,start_lost,p.Met1?,ENST00000616381,;CREB3L2,start_lost,p.Met1?,ENST00000456390,;CREB3L2,start_lost,p.Met1?,ENST00000452463,NM_001253775.1;CREB3L2,start_lost,p.Met1?,ENST00000620715,;CREB3L2,non_coding_transcript_exon_variant,,ENST00000468127,;AKR1D1,upstream_gene_variant,,ENST00000468877,;,regulatory_region_variant,,ENSR00000218824,; C ENSG00000182158 ENST00000330387 Transcript start_lost 354/7412 2/1563 1/520 M/R aTg/aGg 1 -1 CREB3L2 HGNC HGNC:23720 protein_coding YES CCDS34760.1 ENSP00000329140 Q70SY1 UPI0000457614 NM_194071.3,NM_001318246.1 deleterious_low_confidence(0) benign(0.205) 1/12 HIGH 1 SNV 1 1 PASS CAT . . 138001704 ZNF775 . GRCh38 chr7 150398079 150398079 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.1598A>C p.Lys533Thr p.K533T ENST00000329630 3/3 75 58 10 39 37 1 ZNF775,missense_variant,p.Lys533Thr,ENST00000329630,NM_173680.3;AC073111.3,downstream_gene_variant,,ENST00000478789,;ZNF775,downstream_gene_variant,,ENST00000490973,;AC073111.4,intron_variant,,ENST00000483664,;AC073111.4,intron_variant,,ENST00000486297,;AC073111.5,upstream_gene_variant,,ENST00000641330,; C ENSG00000196456 ENST00000329630 Transcript missense_variant 1705/2257 1598/1614 533/537 K/T aAg/aCg 1 1 ZNF775 HGNC HGNC:28501 protein_coding YES CCDS43678.1 ENSP00000330838 Q96BV0 UPI00001BDA25 NM_173680.3 deleterious_low_confidence(0.04) benign(0.026) 3/3 MODERATE 1 SNV 1 PASS AAG . . 150398079 SHH . GRCh38 chr7 155803568 155803568 + Missense_Mutation SNP A A C 7316-230 BS_K44TMQ9G A A c.721T>G p.Phe241Val p.F241V ENST00000297261 3/3 75 65 10 53 51 0 SHH,missense_variant,p.Phe241Val,ENST00000297261,NM_000193.3;SHH,intron_variant,,ENST00000430104,NM_001310462.1;SHH,downstream_gene_variant,,ENST00000472308,;SHH,intron_variant,,ENST00000435425,;SHH,intron_variant,,ENST00000441114,;,regulatory_region_variant,,ENSR00000220120,; C ENSG00000164690 ENST00000297261 Transcript missense_variant 872/4454 721/1389 241/462 F/V Ttc/Gtc CM118763,CM095877 1 -1 SHH HGNC HGNC:10848 protein_coding YES CCDS5942.1 ENSP00000297261 Q15465 UPI0000135942 NM_000193.3 deleterious(0) possibly_damaging(0.898) 3/3 PROSITE_profiles:PS50817,cd00081,hmmpanther:PTHR11889,hmmpanther:PTHR11889:SF36,PIRSF_domain:PIRSF009400,Gene3D:2.170.16.10,Pfam_domain:PF01079,SMART_domains:SM00306,Superfamily_domains:SSF51294 MODERATE 1 SNV 1 1,1 1 PASS AAA . . 155803568 ADGRB1 . GRCh38 chr8 142542502 142542502 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.4268A>C p.Gln1423Pro p.Q1423P ENST00000517894 28/31 32 23 8 27 26 0 ADGRB1,missense_variant,p.Gln1423Pro,ENST00000517894,;ADGRB1,missense_variant,p.Gln1420Pro,ENST00000643448,;ADGRB1,missense_variant,p.Gln1423Pro,ENST00000323289,NM_001702.2;ADGRB1,3_prime_UTR_variant,,ENST00000521208,;ADGRB1,upstream_gene_variant,,ENST00000518812,;ADGRB1,downstream_gene_variant,,ENST00000518820,; C ENSG00000181790 ENST00000517894 Transcript missense_variant 5162/6241 4268/4755 1423/1584 Q/P cAg/cCg 1 1 ADGRB1 HGNC HGNC:943 protein_coding YES CCDS64985.1 ENSP00000430945 O14514 UPI00002109E8 tolerated(0.38) benign(0) 28/31 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAG . . 142542502 SCRIB . GRCh38 chr8 143792413 143792413 + Splice_Region SNP A A C novel 7316-230 BS_K44TMQ9G A A c.4329-8T>G ENST00000356994 58 41 9 43 43 0 SCRIB,splice_region_variant,,ENST00000320476,NM_015356.4;SCRIB,splice_region_variant,,ENST00000356994,NM_182706.4;SCRIB,splice_region_variant,,ENST00000377533,;SCRIB,splice_region_variant,,ENST00000526832,;IQANK1,downstream_gene_variant,,ENST00000527139,;SCRIB,downstream_gene_variant,,ENST00000546337,;SCRIB,intron_variant,,ENST00000525051,;SCRIB,upstream_gene_variant,,ENST00000531163,;IQANK1,downstream_gene_variant,,ENST00000532625,;IQANK1,downstream_gene_variant,,ENST00000534089,; C ENSG00000180900 ENST00000356994 Transcript splice_region_variant,intron_variant 1 -1 SCRIB HGNC HGNC:30377 protein_coding YES CCDS6412.1 ENSP00000349486 Q14160 UPI000232E1C0 NM_182706.4 31/36 LOW 1 SNV 2 1 PASS AAG . . 143792413 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 65 50 12 60 60 0 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 ARID3C . GRCh38 chr9 34627875 34627875 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.140A>C p.Asn47Thr p.N47T ENST00000378909 1/7 66 53 10 48 47 0 ARID3C,missense_variant,p.Asn47Thr,ENST00000378909,NM_001017363.1; G ENSG00000205143 ENST00000378909 Transcript missense_variant 233/1411 140/1239 47/412 N/T aAt/aCt 1 -1 ARID3C HGNC HGNC:21209 protein_coding YES CCDS35006.1 ENSP00000368189 A6NKF2 UPI0000509F06 NM_001017363.1 tolerated_low_confidence(0.14) benign(0.001) 1/7 hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF2,mobidb-lite MODERATE 1 SNV 2 PASS ATT . . 34627875 ANKRD20A4 . GRCh38 chr9 64409432 64409432 + Splice_Region SNP C C T rs201612355 7316-230 BS_K44TMQ9G C C c.1317-3C>T ENST00000357336 57 49 7 33 33 0 ANKRD20A4,splice_region_variant,,ENST00000357336,NM_001098805.1; T ENSG00000172014 ENST00000357336 Transcript splice_region_variant,intron_variant rs201612355 1 1 ANKRD20A4 HGNC HGNC:31982 protein_coding YES CCDS43828.1 ENSP00000349891 Q4UJ75 UPI000051917A NM_001098805.1 13/14 LOW 1 SNV 1 PASS GCA . . 0.1748 0.1806 0.2059 0.1342 0.109 0.1827 0.1726 0.1874 0.2235 64409432 ANKS6 . GRCh38 chr9 98796163 98796163 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.329A>C p.Tyr110Ser p.Y110S ENST00000353234 1/15 56 49 5 47 47 0 ANKS6,missense_variant,p.Tyr110Ser,ENST00000353234,NM_173551.4;ANKS6,intron_variant,,ENST00000375019,;ANKS6,non_coding_transcript_exon_variant,,ENST00000471846,;ANKS6,upstream_gene_variant,,ENST00000634393,;,regulatory_region_variant,,ENSR00000238695,; G ENSG00000165138 ENST00000353234 Transcript missense_variant 377/7164 329/2616 110/871 Y/S tAc/tCc 1 -1 ANKS6 HGNC HGNC:26724 protein_coding YES CCDS43856.1 ENSP00000297837 Q68DC2 UPI0000530317 NM_173551.4 tolerated(0.09) possibly_damaging(0.69) 1/15 Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF39,SMART_domains:SM00248,Superfamily_domains:SSF48403,cd00204 MODERATE 1 SNV 1 1 PASS GTA . . 98796163 DAB2IP . GRCh38 chr9 121699452 121699452 + Missense_Mutation SNP A A C 7316-230 BS_K44TMQ9G A A c.272A>C p.Asn91Thr p.N91T ENST00000259371 3/17 33 20 10 23 22 1 DAB2IP,missense_variant,p.Asn119Thr,ENST00000408936,;DAB2IP,missense_variant,p.Asn91Thr,ENST00000259371,NM_032552.3;DAB2IP,missense_variant,p.Asn28Thr,ENST00000373782,;DAB2IP,missense_variant,p.Asn91Thr,ENST00000394340,;DAB2IP,intron_variant,,ENST00000436835,;,regulatory_region_variant,,ENSR00000240941,; C ENSG00000136848 ENST00000259371 Transcript missense_variant 359/5469 272/3399 91/1132 N/T aAt/aCt COSM6414373,COSM6414374 1 1 DAB2IP HGNC HGNC:17294 protein_coding YES CCDS6833.2 ENSP00000259371 Q5VWQ8 UPI0000D77E70 NM_032552.3 tolerated(0.55) benign(0.108) 3/17 SMART_domains:SM00233,cd13376 1,1 MODERATE 1 SNV 5 1,1 PASS AAT . . 121699452 ENG . GRCh38 chr9 127815805 127815805 + Splice_Region SNP A A C novel 7316-230 BS_K44TMQ9G A A c.1854T>G p.Arg618= p.R618= ENST00000373203 15/15 77 66 10 37 37 0 ENG,splice_region_variant,p.Arg618=,ENST00000373203,NM_001114753.2;ENG,splice_region_variant,p.Arg436=,ENST00000480266,NM_001278138.1;ENG,3_prime_UTR_variant,,ENST00000344849,NM_000118.3;FPGS,downstream_gene_variant,,ENST00000373225,NM_001018078.2;FPGS,downstream_gene_variant,,ENST00000373228,;FPGS,downstream_gene_variant,,ENST00000373247,NM_004957.5;FPGS,downstream_gene_variant,,ENST00000393706,NM_001288803.1;FPGS,downstream_gene_variant,,ENST00000630236,;AL162586.1,upstream_gene_variant,,ENST00000425991,;AL162586.1,upstream_gene_variant,,ENST00000439298,;FPGS,downstream_gene_variant,,ENST00000460181,;FPGS,downstream_gene_variant,,ENST00000467826,;FPGS,downstream_gene_variant,,ENST00000475270,;ENG,downstream_gene_variant,,ENST00000486329,;FPGS,downstream_gene_variant,,ENST00000488506,; C ENSG00000106991 ENST00000373203 Transcript splice_region_variant,synonymous_variant 2255/3048 1854/1977 618/658 R cgT/cgG 1 -1 ENG HGNC HGNC:3349 protein_coding YES CCDS48029.1 ENSP00000362299 P17813 A0A024R878 UPI0000129E00 NM_001114753.2 15/15 hmmpanther:PTHR14002,hmmpanther:PTHR14002:SF1 LOW 1 SNV 1 1 PASS AAC . . 127815805 INPP5E . GRCh38 chr9 136439212 136439212 + Missense_Mutation SNP T T G rs1202573963 7316-230 BS_K44TMQ9G T T c.208A>C p.Ile70Leu p.I70L ENST00000371712 1/10 53 40 10 47 46 1 INPP5E,missense_variant,p.Ile70Leu,ENST00000371712,NM_001318502.1,NM_019892.5;SEC16A,downstream_gene_variant,,ENST00000277537,;SEC16A,downstream_gene_variant,,ENST00000290037,NM_001276418.1;SEC16A,downstream_gene_variant,,ENST00000313050,NM_014866.1;SEC16A,downstream_gene_variant,,ENST00000313084,;SEC16A,downstream_gene_variant,,ENST00000371706,;SEC16A,downstream_gene_variant,,ENST00000431893,;SEC16A,downstream_gene_variant,,ENST00000453963,;INPP5E,non_coding_transcript_exon_variant,,ENST00000635815,;SEC16A,downstream_gene_variant,,ENST00000467838,;,regulatory_region_variant,,ENSR00000243016,; G ENSG00000148384 ENST00000371712 Transcript missense_variant 611/3394 208/1935 70/644 I/L Atc/Ctc rs1202573963,COSM5949868 1 -1 INPP5E HGNC HGNC:21474 protein_coding YES CCDS7000.1 ENSP00000360777 Q9NRR6 UPI000014053C NM_001318502.1,NM_019892.5 tolerated_low_confidence(0.53) benign(0) 1/10 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 1 PASS ATG . . 136439212 MAMDC4 . GRCh38 chr9 136855513 136855513 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.1365T>G p.Asp455Glu p.D455E ENST00000317446 12/27 63 49 11 36 36 0 MAMDC4,missense_variant,p.Asp455Glu,ENST00000445819,;MAMDC4,missense_variant,p.Asp455Glu,ENST00000317446,NM_206920.2;PHPT1,downstream_gene_variant,,ENST00000247665,NM_001287342.1,NM_014172.5;PHPT1,downstream_gene_variant,,ENST00000371661,NM_001287343.1,NM_001135861.2;MAMDC4,non_coding_transcript_exon_variant,,ENST00000485732,;PHPT1,downstream_gene_variant,,ENST00000462205,;PHPT1,downstream_gene_variant,,ENST00000463215,;MAMDC4,upstream_gene_variant,,ENST00000481327,;PHPT1,downstream_gene_variant,,ENST00000492540,;PHPT1,downstream_gene_variant,,ENST00000497413,;MAMDC4,upstream_gene_variant,,ENST00000479475,; G ENSG00000177943 ENST00000317446 Transcript missense_variant 1415/3658 1365/3414 455/1137 D/E gaT/gaG 1 1 MAMDC4 HGNC HGNC:24083 protein_coding YES CCDS7010.1 ENSP00000319388 Q6UXC1 UPI0000237828 NM_206920.2 tolerated(0.37) benign(0.009) 12/27 Gene3D:4.10.400.10,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF83,mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 136855513 NELFB . GRCh38 chr9 137255461 137255461 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.96A>C p.Glu32Asp p.E32D ENST00000343053 1/13 57 45 9 46 45 0 NELFB,missense_variant,p.Glu32Asp,ENST00000343053,NM_015456.4;NELFB,missense_variant,p.Glu32Asp,ENST00000634710,;STPG3,downstream_gene_variant,,ENST00000388931,NM_001256699.1;STPG3,downstream_gene_variant,,ENST00000412566,NM_001004353.3;STPG3,downstream_gene_variant,,ENST00000611378,NM_001256700.1;STPG3,downstream_gene_variant,,ENST00000620243,NM_001256701.1;STPG3-AS1,upstream_gene_variant,,ENST00000612170,;STPG3,downstream_gene_variant,,ENST00000610325,;STPG3,downstream_gene_variant,,ENST00000620716,;STPG3,downstream_gene_variant,,ENST00000622761,;,regulatory_region_variant,,ENSR00000243170,; C ENSG00000188986 ENST00000343053 Transcript missense_variant 289/2698 96/1887 32/628 E/D gaA/gaC 1 1 NELFB HGNC HGNC:24324 protein_coding YES CCDS7040.2 ENSP00000339495 A0A0X1KG71 UPI000719A1CA NM_015456.4 tolerated_low_confidence(0.3) benign(0.067) 1/13 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 137255461 GPR158 . GRCh38 chr10 25466664 25466664 + Missense_Mutation SNP C C T rs1335821130 7316-230 BS_K44TMQ9G C C c.1349C>T p.Ser450Leu p.S450L ENST00000376351 5/11 57 48 9 46 46 0 GPR158,missense_variant,p.Ser450Leu,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000482641,; T ENSG00000151025 ENST00000376351 Transcript missense_variant 1708/6959 1349/3648 450/1215 S/L tCg/tTg rs1335821130 1 1 GPR158 HGNC HGNC:23689 protein_coding YES CCDS31166.1 ENSP00000365529 Q5T848 UPI0000199875 NM_020752.2 deleterious(0) probably_damaging(0.999) 5/11 PROSITE_profiles:PS50259,cd15293,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Pfam_domain:PF00003 MODERATE 1 SNV 1 PASS TCG . . 4.128e-06 9.071e-06 25466664 PIK3AP1 . GRCh38 chr10 96709637 96709637 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.360T>G p.His120Gln p.H120Q ENST00000339364 2/17 41 31 10 28 26 1 PIK3AP1,missense_variant,p.His120Gln,ENST00000339364,NM_152309.2; C ENSG00000155629 ENST00000339364 Transcript missense_variant 480/4803 360/2418 120/805 H/Q caT/caG 1 -1 PIK3AP1 HGNC HGNC:30034 protein_coding YES CCDS31259.1 ENSP00000339826 Q6ZUJ8 UPI00001F947F NM_152309.2 tolerated(0.69) benign(0.001) 2/17 Gene3D:1.25.40.20,hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF12 MODERATE 1 SNV 1 PASS AAT . . 96709637 FAM53B . GRCh38 chr10 124744009 124744009 + Splice_Region SNP T T G novel 7316-230 BS_K44TMQ9G T T c.-175+4A>C ENST00000337318 47 28 14 36 33 0 FAM53B,splice_region_variant,,ENST00000280780,;FAM53B,splice_region_variant,,ENST00000337318,NM_014661.3;FAM53B,upstream_gene_variant,,ENST00000392754,;AC068896.1,intron_variant,,ENST00000494792,;EEF1AKMT2,downstream_gene_variant,,ENST00000495711,;,regulatory_region_variant,,ENSR00000034848,; G ENSG00000189319 ENST00000337318 Transcript splice_region_variant,intron_variant 1 -1 FAM53B HGNC HGNC:28968 protein_coding YES CCDS7641.1 ENSP00000338532 Q14153 UPI000013DC3C NM_014661.3 1/4 LOW 1 SNV 1 PASS CTT . . 124744009 KNDC1 . GRCh38 chr10 133198469 133198469 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.2039T>G p.Ile680Ser p.I680S ENST00000304613 13/30 64 55 8 38 38 0 KNDC1,missense_variant,p.Ile680Ser,ENST00000304613,NM_152643.6;KNDC1,missense_variant,p.Ile615Ser,ENST00000368571,; G ENSG00000171798 ENST00000304613 Transcript missense_variant 2060/6793 2039/5250 680/1749 I/S aTt/aGt 1 1 KNDC1 HGNC HGNC:29374 protein_coding YES CCDS7674.1 ENSP00000304437 Q76NI1 UPI00003529F7 NM_152643.6 deleterious(0) benign(0.273) 13/30 hmmpanther:PTHR21560 MODERATE 1 SNV 1 PASS ATT . . 133198469 UTF1 . GRCh38 chr10 133230785 133230785 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.497A>C p.Gln166Pro p.Q166P ENST00000304477 1/2 81 51 23 48 47 0 UTF1,missense_variant,p.Gln166Pro,ENST00000304477,NM_003577.2;KNDC1,downstream_gene_variant,,ENST00000304613,NM_152643.6;,regulatory_region_variant,,ENSR00000035517,; C ENSG00000171794 ENST00000304477 Transcript missense_variant 512/1157 497/1026 166/341 Q/P cAg/cCg 1 1 UTF1 HGNC HGNC:12634 protein_coding YES CCDS31318.1 ENSP00000305906 Q5T230 UPI000013E984 NM_003577.2 tolerated_low_confidence(0.35) benign(0) 1/2 hmmpanther:PTHR21654,hmmpanther:PTHR21654:SF16,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 133230785 UTF1 . GRCh38 chr10 133230809 133230809 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.521A>C p.Asn174Thr p.N174T ENST00000304477 1/2 73 53 12 47 47 0 UTF1,missense_variant,p.Asn174Thr,ENST00000304477,NM_003577.2;KNDC1,downstream_gene_variant,,ENST00000304613,NM_152643.6;,regulatory_region_variant,,ENSR00000035517,; C ENSG00000171794 ENST00000304477 Transcript missense_variant 536/1157 521/1026 174/341 N/T aAc/aCc 1 1 UTF1 HGNC HGNC:12634 protein_coding YES CCDS31318.1 ENSP00000305906 Q5T230 UPI000013E984 NM_003577.2 tolerated(0.78) benign(0.001) 1/2 hmmpanther:PTHR21654,hmmpanther:PTHR21654:SF16,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 133230809 ADAM8 . GRCh38 chr10 133267357 133267357 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.2314A>C p.Lys772Gln p.K772Q ENST00000445355 21/23 67 59 7 46 46 0 ADAM8,missense_variant,p.Lys772Gln,ENST00000445355,NM_001109.4;ADAM8,missense_variant,p.Lys716Thr,ENST00000415217,NM_001164489.1;ADAM8,missense_variant,p.Lys707Gln,ENST00000485491,NM_001164490.1;ADAM8,downstream_gene_variant,,ENST00000468964,;ADAM8,downstream_gene_variant,,ENST00000537099,;ADAM8,upstream_gene_variant,,ENST00000559018,;ADAM8,downstream_gene_variant,,ENST00000561175,; G ENSG00000151651 ENST00000445355 Transcript missense_variant 2365/3279 2314/2475 772/824 K/Q Aag/Cag 1 -1 ADAM8 HGNC HGNC:215 protein_coding YES CCDS31319.2 ENSP00000453302 P78325 UPI0001AE6E16 NM_001109.4 tolerated(0.39) benign(0.037) 21/23 hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF20 MODERATE 1 SNV 1 PASS TTT . . 133267357 AHNAK . GRCh38 chr11 62525294 62525294 + Missense_Mutation SNP A A T rs1323438441 7316-230 BS_K44TMQ9G A A c.9123T>A p.Asp3041Glu p.D3041E ENST00000378024 5/5 59 48 7 29 28 0 AHNAK,missense_variant,p.Asp3041Glu,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 9398/18787 9123/17673 3041/5890 D/E gaT/gaA rs1323438441 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.69) benign(0.001) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 MODERATE 1 SNV 2 PASS CAT . . 62525294 AHNAK . GRCh38 chr11 62528626 62528626 + Missense_Mutation SNP A A C 7316-230 BS_K44TMQ9G A A c.5791T>G p.Leu1931Val p.L1931V ENST00000378024 5/5 54 34 7 31 28 0 AHNAK,missense_variant,p.Leu1931Val,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; C ENSG00000124942 ENST00000378024 Transcript missense_variant 6066/18787 5791/17673 1931/5890 L/V Ttg/Gtg COSM5764175,COSM5764174 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.07) possibly_damaging(0.538) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 1,1 MODERATE 1 SNV 2 1,1 PASS AAG . . 62528626 RTN3 . GRCh38 chr11 63681781 63681781 + Splice_Region SNP A A C novel 7316-230 BS_K44TMQ9G A A c.142+3A>C ENST00000377819 55 45 7 36 36 0 RTN3,splice_region_variant,,ENST00000339997,NM_201428.2;RTN3,splice_region_variant,,ENST00000341307,NM_201430.2;RTN3,splice_region_variant,,ENST00000354497,NM_001265591.1;RTN3,splice_region_variant,,ENST00000356000,NM_201429.2;RTN3,splice_region_variant,,ENST00000377819,NM_001265589.1;RTN3,splice_region_variant,,ENST00000537981,NM_006054.3;RTN3,splice_region_variant,,ENST00000540798,NM_001265590.1;RTN3,splice_region_variant,,ENST00000542238,;RTN3,splice_region_variant,,ENST00000543552,;RTN3,splice_region_variant,,ENST00000545432,;RTN3,splice_region_variant,,ENST00000338850,;RTN3,splice_region_variant,,ENST00000538995,;RTN3,splice_region_variant,,ENST00000536011,;RTN3,splice_region_variant,,ENST00000543123,;,regulatory_region_variant,,ENSR00000040554,; C ENSG00000133318 ENST00000377819 Transcript splice_region_variant,intron_variant 1 1 RTN3 HGNC HGNC:10469 protein_coding YES CCDS58141.1 ENSP00000367050 O95197 UPI00004546A2 NM_001265589.1 1/8 LOW 1 SNV 1 PASS TAA . . 63681781 SART1 . GRCh38 chr11 65961954 65961954 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.174A>C p.Glu58Asp p.E58D ENST00000312397 1/20 55 39 15 39 39 0 SART1,missense_variant,p.Glu58Asp,ENST00000312397,NM_005146.4;TSGA10IP,downstream_gene_variant,,ENST00000532620,NM_152762.2;SART1,non_coding_transcript_exon_variant,,ENST00000528573,;SART1,missense_variant,p.Glu58Asp,ENST00000530251,;SART1,non_coding_transcript_exon_variant,,ENST00000529532,;SART1,non_coding_transcript_exon_variant,,ENST00000532333,;TSGA10IP,downstream_gene_variant,,ENST00000534740,;TSGA10IP,downstream_gene_variant,,ENST00000608857,;,regulatory_region_variant,,ENSR00000040915,; C ENSG00000175467 ENST00000312397 Transcript missense_variant 266/3293 174/2403 58/800 E/D gaA/gaC 1 1 SART1 HGNC HGNC:10538 protein_coding YES CCDS31611.1 ENSP00000310448 O43290 UPI00000732D5 NM_005146.4 tolerated_low_confidence(0.42) possibly_damaging(0.899) 1/20 PDB-ENSP_mappings:5o9z.P,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 65961954 ARRB1 . GRCh38 chr11 75351597 75351597 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.11A>C p.Lys4Thr p.K4T ENST00000420843 1/16 56 36 9 38 37 0 ARRB1,missense_variant,p.Lys4Thr,ENST00000420843,NM_004041.4;ARRB1,missense_variant,p.Lys4Thr,ENST00000360025,NM_020251.3;ARRB1,non_coding_transcript_exon_variant,,ENST00000533255,;,regulatory_region_variant,,ENSR00000042118,; G ENSG00000137486 ENST00000420843 Transcript missense_variant 109/3336 11/1257 4/418 K/T aAa/aCa 1 -1 ARRB1 HGNC HGNC:711 protein_coding YES CCDS44684.1 ENSP00000409581 P49407 UPI0000126076 NM_004041.4 tolerated(0.08) benign(0.009) 1/16 hmmpanther:PTHR11792:SF22,hmmpanther:PTHR11792 MODERATE 1 SNV 1 PASS TTT . . 75351597 PGR . GRCh38 chr11 101127816 101127816 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.1255T>G p.Leu419Val p.L419V ENST00000325455 1/8 50 42 7 33 33 0 PGR,missense_variant,p.Leu419Val,ENST00000325455,NM_001202474.3,NM_000926.4;PGR,missense_variant,p.Leu419Val,ENST00000619228,;PGR,missense_variant,p.Leu419Val,ENST00000617858,;PGR,missense_variant,p.Leu419Val,ENST00000263463,NM_001271161.2;PGR,intron_variant,,ENST00000534013,NM_001271162.1;PGR,upstream_gene_variant,,ENST00000632634,;PGR-AS1,upstream_gene_variant,,ENST00000632820,;PGR,missense_variant,p.Leu419Val,ENST00000534780,;PGR,missense_variant,p.Leu419Val,ENST00000528960,;PGR,missense_variant,p.Leu419Val,ENST00000526300,;,regulatory_region_variant,,ENSR00000043897,; C ENSG00000082175 ENST00000325455 Transcript missense_variant 2709/13748 1255/2802 419/933 L/V Ttg/Gtg 1 -1 PGR HGNC HGNC:8910 protein_coding YES CCDS8310.1 ENSP00000325120 P06401 UPI0000046E22 NM_001202474.3,NM_000926.4 tolerated_low_confidence(0.27) benign(0.303) 1/8 Pfam_domain:PF02161,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 101127816 KRAS . GRCh38 chr12 25227343 25227343 + Missense_Mutation SNP G G T rs121913238 7316-230 BS_K44TMQ9G G G c.181C>A p.Gln61Lys p.Q61K ENST00000256078 3/6 51 38 13 40 40 0 KRAS,missense_variant,p.Gln61Lys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gln61Lys,ENST00000256078,NM_033360.3;KRAS,intron_variant,,ENST00000557334,;AC092794.2,downstream_gene_variant,,ENST00000620933,; T ENSG00000133703 ENST00000256078 Transcript missense_variant 245/1119 181/570 61/189 Q/K Caa/Aaa rs121913238,COSM550,COSM549,COSM1159597 1 -1 KRAS HGNC HGNC:6407 protein_coding YES CCDS8703.1 ENSP00000256078 P01116 L7RSL8 UPI0000133132 NM_033360.3 deleterious(0.01) benign(0.083) 3/6 PROSITE_profiles:PS51421,cd04138,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.30.70.1390,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449 likely_pathogenic,pathogenic 1,1,1,1 24033266,19047918 MODERATE 1 SNV 1 1,1,1,1 1 PASS TGA . . 25227343 SLC2A13 . GRCh38 chr12 40105786 40105786 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.23A>C p.Asn8Thr p.N8T ENST00000280871 1/10 66 48 13 34 32 0 SLC2A13,missense_variant,p.Asn8Thr,ENST00000280871,NM_052885.3;SLC2A13,missense_variant,p.Asn8Thr,ENST00000380858,;,regulatory_region_variant,,ENSR00000050827,; G ENSG00000151229 ENST00000280871 Transcript missense_variant 74/7003 23/1947 8/648 N/T aAt/aCt 1 -1 SLC2A13 HGNC HGNC:15956 protein_coding YES CCDS8736.2 ENSP00000280871 Q96QE2 UPI000066D913 NM_052885.3 tolerated_low_confidence(0.06) benign(0.011) 1/10 MODERATE 1 SNV 1 PASS ATT . . 40105786 ATXN2 . GRCh38 chr12 111599076 111599076 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.439T>G p.Cys147Gly p.C147G ENST00000377617 1/25 48 38 6 31 30 1 ATXN2,missense_variant,p.Cys147Gly,ENST00000377617,NM_002973.3;ATXN2,missense_variant,p.Cys147Gly,ENST00000550104,;ATXN2,5_prime_UTR_variant,,ENST00000644883,;ATXN2,5_prime_UTR_variant,,ENST00000616825,;ATXN2,5_prime_UTR_variant,,ENST00000608853,;ATXN2,5_prime_UTR_variant,,ENST00000643669,;ATXN2,5_prime_UTR_variant,,ENST00000647305,;ATXN2,intron_variant,,ENST00000535949,NM_001310123.1;ATXN2,intron_variant,,ENST00000542287,NM_001310121.1;ATXN2,upstream_gene_variant,,ENST00000389153,;ATXN2,upstream_gene_variant,,ENST00000548492,;ATXN2-AS,upstream_gene_variant,,ENST00000547021,;ATXN2,upstream_gene_variant,,ENST00000549455,;ATXN2,5_prime_UTR_variant,,ENST00000483311,;ATXN2,upstream_gene_variant,,ENST00000392645,;,regulatory_region_variant,,ENSR00000057455,; C ENSG00000204842 ENST00000377617 Transcript missense_variant 601/4702 439/3942 147/1313 C/G Tgt/Ggt 1 -1 ATXN2 HGNC HGNC:10555 protein_coding YES CCDS31902.1 ENSP00000366843 Q99700 UPI0000DBEEFC NM_002973.3 deleterious_low_confidence(0) benign(0.005) 1/25 Gene3D:1.10.110.10,hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF11,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAG . . 111599076 UBC . GRCh38 chr12 124913538 124913538 + Missense_Mutation SNP T T G 7316-230 BS_K44TMQ9G T T c.234A>C p.Gln78His p.Q78H ENST00000536769 1/1 65 44 7 41 37 0 UBC,missense_variant,p.Gln78His,ENST00000536769,;UBC,missense_variant,p.Gln78His,ENST00000339647,NM_021009.6;UBC,missense_variant,p.Gln78His,ENST00000538617,;UBC,missense_variant,p.Gln78His,ENST00000546120,;UBC,missense_variant,p.Gln78His,ENST00000540700,;UBC,missense_variant,p.Gln78His,ENST00000540351,;UBC,missense_variant,p.Gln78His,ENST00000535859,;UBC,missense_variant,p.Gln78His,ENST00000541272,;UBC,missense_variant,p.Gln78His,ENST00000535131,;UBC,missense_variant,p.Gln78His,ENST00000546271,;UBC,missense_variant,p.Gln78His,ENST00000541645,;UBC,downstream_gene_variant,,ENST00000542416,;MIR5188,upstream_gene_variant,,ENST00000583467,;UBC,non_coding_transcript_exon_variant,,ENST00000544481,;UBC,downstream_gene_variant,,ENST00000536661,; G ENSG00000150991 ENST00000536769 Transcript missense_variant 1811/3745 234/2058 78/685 Q/H caA/caC COSM5956811 1 -1 UBC HGNC HGNC:12468 protein_coding YES CCDS9260.1 ENSP00000441543 P0CG48 UPI000000D74D deleterious(0.03) possibly_damaging(0.688) 1/1 Gene3D:3.10.20.90,PROSITE_profiles:PS50053,hmmpanther:PTHR45095,hmmpanther:PTHR45095,hmmpanther:PTHR45095:SF2,hmmpanther:PTHR45095:SF2,SMART_domains:SM00213,Superfamily_domains:SSF54236,cd01803 1 MODERATE 1 SNV 1 PASS TTT . . 124913538 CRYL1 . GRCh38 chr13 20525794 20525794 + Translation_Start_Site SNP T T G novel 7316-230 BS_K44TMQ9G T T c.1A>C p.Met1? p.M1? ENST00000298248 1/8 52 42 10 52 52 0 CRYL1,start_lost,p.Met1?,ENST00000298248,NM_015974.2;CRYL1,start_lost,p.Met1?,ENST00000644593,;CRYL1,5_prime_UTR_variant,,ENST00000643750,;CRYL1,5_prime_UTR_variant,,ENST00000382812,;CRYL1,start_lost,p.Met1?,ENST00000644153,;CRYL1,start_lost,p.Met1?,ENST00000643887,;CRYL1,start_lost,p.Met1?,ENST00000643035,;CRYL1,start_lost,p.Met1?,ENST00000644167,;CRYL1,start_lost,p.Met1?,ENST00000646414,;,regulatory_region_variant,,ENSR00000059678,; G ENSG00000165475 ENST00000298248 Transcript start_lost 64/1485 1/960 1/319 M/L Atg/Ctg 1 -1 CRYL1 HGNC HGNC:18246 protein_coding YES CCDS41871.1 ENSP00000298248 Q9Y2S2 V9HWG2 UPI000013E4B3 NM_015974.2 deleterious_low_confidence(0) possibly_damaging(0.456) 1/8 PIRSF_domain:PIRSF000105,hmmpanther:PTHR43492,hmmpanther:PTHR43492:SF2 HIGH 1 SNV 1 PASS ATG . . 20525794 MLNR . GRCh38 chr13 49221137 49221137 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.800A>C p.Tyr267Ser p.Y267S ENST00000218721 1/2 59 52 7 41 41 0 MLNR,missense_variant,p.Tyr267Ser,ENST00000218721,NM_001507.1;,regulatory_region_variant,,ENSR00000062704,; C ENSG00000102539 ENST00000218721 Transcript missense_variant 800/1239 800/1239 267/412 Y/S tAc/tCc 1 1 MLNR HGNC HGNC:4495 protein_coding YES CCDS9414.1 ENSP00000218721 O43193 UPI000003C2FB NM_001507.1 deleterious(0) probably_damaging(0.986) 1/2 Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF3,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15132 MODERATE 1 SNV 1 PASS TAC . . 49221137 ARGLU1 . GRCh38 chr13 106567726 106567726 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.194T>G p.Val65Gly p.V65G ENST00000400198 1/4 34 23 9 40 40 0 ARGLU1,missense_variant,p.Val65Gly,ENST00000400198,NM_018011.3;ARGLU1,upstream_gene_variant,,ENST00000360629,;,regulatory_region_variant,,ENSR00000065521,; C ENSG00000134884 ENST00000400198 Transcript missense_variant 439/3390 194/822 65/273 V/G gTg/gGg 1 -1 ARGLU1 HGNC HGNC:25482 protein_coding YES CCDS41906.1 ENSP00000383059 Q9NWB6 A0A024RDW4 UPI00000373ED NM_018011.3 tolerated(0.25) benign(0) 1/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR31711:SF1,hmmpanther:PTHR31711 MODERATE 1 SNV 1 PASS CAC . . 106567726 JPH4 . GRCh38 chr14 23576344 23576344 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.492T>G p.Asp164Glu p.D164E ENST00000397118 4/7 65 56 8 50 49 0 JPH4,missense_variant,p.Asp164Glu,ENST00000397118,NM_032452.2;JPH4,missense_variant,p.Asp164Glu,ENST00000356300,NM_001146028.1;JPH4,missense_variant,p.Asp165Glu,ENST00000622501,;JPH4,upstream_gene_variant,,ENST00000544177,;JPH4,non_coding_transcript_exon_variant,,ENST00000553505,; C ENSG00000092051 ENST00000397118 Transcript missense_variant 1395/4386 492/1887 164/628 D/E gaT/gaG 1 -1 JPH4 HGNC HGNC:20156 protein_coding YES CCDS9603.1 ENSP00000380307 Q96JJ6 UPI00001C1F68 NM_032452.2 tolerated(1) benign(0.135) 4/7 PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF14,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 23576344 NPAS3 . GRCh38 chr14 33800592 33800592 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.2285A>C p.Asn762Thr p.N762T ENST00000356141 12/12 42 33 7 32 30 0 NPAS3,missense_variant,p.Asn730Thr,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Asn732Thr,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Asn767Thr,ENST00000551492,;NPAS3,missense_variant,p.Asn762Thr,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Asn749Thr,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Asn736Thr,ENST00000551634,; C ENSG00000151322 ENST00000356141 Transcript missense_variant 2285/2802 2285/2802 762/933 N/T aAc/aCc 1 1 NPAS3 HGNC HGNC:19311 protein_coding YES CCDS53891.1 ENSP00000348460 Q8IXF0 X5D2Q4 UPI00000743C2 NM_001164749.1 tolerated_low_confidence(1) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF30 MODERATE 1 SNV 1 PASS AAC . . 33800592 FSCB . GRCh38 chr14 44505570 44505570 + Missense_Mutation SNP T T G rs1412534929 7316-230 BS_K44TMQ9G T T c.1418A>C p.Glu473Ala p.E473A ENST00000340446 1/1 93 83 7 51 49 0 FSCB,missense_variant,p.Glu473Ala,ENST00000340446,NM_032135.3;AL356022.1,upstream_gene_variant,,ENST00000555433,;AL356022.1,upstream_gene_variant,,ENST00000556228,;AL356022.1,upstream_gene_variant,,ENST00000557465,; G ENSG00000189139 ENST00000340446 Transcript missense_variant 1710/2938 1418/2478 473/825 E/A gAa/gCa rs1412534929 1 -1 FSCB HGNC HGNC:20494 protein_coding YES CCDS9679.1 ENSP00000344579 Q5H9T9 UPI00001FD466 NM_032135.3 tolerated(0.09) possibly_damaging(0.88) 1/1 mobidb-lite,hmmpanther:PTHR36135 MODERATE SNV PASS TTC . . 44505570 CCDC85C . GRCh38 chr14 99603358 99603358 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.602A>C p.Asp201Ala p.D201A ENST00000380243 1/6 63 58 5 50 50 0 CCDC85C,missense_variant,p.Asp201Ala,ENST00000380243,NM_001144995.1;AL160313.1,upstream_gene_variant,,ENST00000502101,;,regulatory_region_variant,,ENSR00000072980,; G ENSG00000205476 ENST00000380243 Transcript missense_variant 669/16393 602/1260 201/419 D/A gAc/gCc 1 -1 CCDC85C HGNC HGNC:35459 protein_coding YES CCDS45161.1 ENSP00000369592 A6NKD9 UPI0000D62448 NM_001144995.1 deleterious(0) probably_damaging(0.91) 1/6 Pfam_domain:PF10226,hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF14,mobidb-lite MODERATE SNV 5 PASS GTC . . 99603358 AMN . GRCh38 chr14 102929661 102929661 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.767T>G p.Val256Gly p.V256G ENST00000299155 8/12 69 55 12 55 54 0 AMN,missense_variant,p.Val256Gly,ENST00000299155,NM_030943.3;AMN,intron_variant,,ENST00000559789,;CDC42BPB,downstream_gene_variant,,ENST00000361246,NM_006035.3;AMN,downstream_gene_variant,,ENST00000559525,;AL117209.1,upstream_gene_variant,,ENST00000560931,;AMN,non_coding_transcript_exon_variant,,ENST00000558590,;AMN,non_coding_transcript_exon_variant,,ENST00000541086,;AMN,downstream_gene_variant,,ENST00000559442,;AMN,upstream_gene_variant,,ENST00000559507,; G ENSG00000166126 ENST00000299155 Transcript missense_variant 800/1907 767/1362 256/453 V/G gTt/gGt 1 1 AMN HGNC HGNC:14604 protein_coding YES CCDS9977.1 ENSP00000299155 Q9BXJ7 UPI0000037792 NM_030943.3 deleterious(0.01) benign(0.206) 8/12 hmmpanther:PTHR14995,Pfam_domain:PF14828 MODERATE 1 SNV 1 1 PASS GTT . . 102929661 KIF26A . GRCh38 chr14 104179609 104179609 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.5468T>G p.Phe1823Cys p.F1823C ENST00000423312 15/15 77 61 11 48 48 0 KIF26A,missense_variant,p.Phe1684Cys,ENST00000315264,;KIF26A,missense_variant,p.Phe1823Cys,ENST00000423312,NM_015656.1; G ENSG00000066735 ENST00000423312 Transcript missense_variant,splice_region_variant 5468/5649 5468/5649 1823/1882 F/C tTt/tGt 1 1 KIF26A HGNC HGNC:20226 protein_coding YES CCDS45171.1 ENSP00000388241 Q9ULI4 UPI00006C145D NM_015656.1 deleterious(0) probably_damaging(0.998) 15/15 hmmpanther:PTHR24115:SF407,hmmpanther:PTHR24115 MODERATE 1 SNV 5 PASS GTT . . 104179609 TEX22 . GRCh38 chr14 105411385 105411385 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.168A>C p.Glu56Asp p.E56D ENST00000451127 3/4 78 65 8 57 56 0 TEX22,missense_variant,p.Glu56Asp,ENST00000451127,NM_001195082.1;TEX22,intron_variant,,ENST00000548638,;,regulatory_region_variant,,ENSR00000073817,; C ENSG00000226174 ENST00000451127 Transcript missense_variant 260/2571 168/453 56/150 E/D gaA/gaC 1 1 TEX22 HGNC HGNC:40026 protein_coding YES CCDS53916.1 ENSP00000397002 C9J3V5 UPI00006C1461 NM_001195082.1 tolerated(0.39) benign(0.013) 3/4 Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS AAC . . 105411385 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 50 31 8 38 37 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 C2CD4A . GRCh38 chr15 62068326 62068326 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.713T>G p.Phe238Cys p.F238C ENST00000355522 2/2 70 55 10 43 43 0 C2CD4A,missense_variant,p.Phe238Cys,ENST00000355522,NM_207322.2;,regulatory_region_variant,,ENSR00000077562,; G ENSG00000198535 ENST00000355522 Transcript missense_variant 854/3445 713/1110 238/369 F/C tTt/tGt 1 1 C2CD4A HGNC HGNC:33627 protein_coding YES CCDS32258.1 ENSP00000347712 Q8NCU7 UPI0000140CF2 NM_207322.2 tolerated(0.18) benign(0.263) 2/2 hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF343,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTT . . 62068326 MESP1 . GRCh38 chr15 89751026 89751026 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.206T>G p.Val69Gly p.V69G ENST00000300057 1/2 67 54 11 50 50 0 MESP1,missense_variant,p.Val69Gly,ENST00000300057,NM_018670.3;MESP1,splice_region_variant,,ENST00000559894,;,regulatory_region_variant,,ENSR00000080949,;MRPL15P1,upstream_gene_variant,,ENST00000559543,; C ENSG00000166823 ENST00000300057 Transcript missense_variant 285/2369 206/807 69/268 V/G gTa/gGa 1 -1 MESP1 HGNC HGNC:29658 protein_coding YES CCDS10355.1 ENSP00000300057 Q9BRJ9 UPI0000070E08 NM_018670.3 tolerated(0.16) benign(0) 1/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR20937,hmmpanther:PTHR20937:SF6,Gene3D:4.10.280.10 MODERATE 1 SNV 1 PASS TAC . . 89751026 PKD1 . GRCh38 chr16 2091518 2091518 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.11617T>G p.Phe3873Val p.F3873V ENST00000262304 42/46 41 30 11 50 46 0 PKD1,missense_variant,p.Phe3873Val,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Phe3872Val,ENST00000423118,NM_000296.3;TSC2,downstream_gene_variant,,ENST00000219476,NM_000548.4;TSC2,downstream_gene_variant,,ENST00000350773,NM_001114382.2;TSC2,downstream_gene_variant,,ENST00000382538,NM_001318829.1;TSC2,downstream_gene_variant,,ENST00000401874,NM_001077183.2;TSC2,downstream_gene_variant,,ENST00000439673,NM_001318827.1;TSC2,downstream_gene_variant,,ENST00000568454,NM_001318832.1;TSC2,downstream_gene_variant,,ENST00000642365,;TSC2,downstream_gene_variant,,ENST00000642561,;TSC2,downstream_gene_variant,,ENST00000642797,;TSC2,downstream_gene_variant,,ENST00000642936,NM_001318831.1;TSC2,downstream_gene_variant,,ENST00000643088,;TSC2,downstream_gene_variant,,ENST00000643946,;TSC2,downstream_gene_variant,,ENST00000644043,;TSC2,downstream_gene_variant,,ENST00000644329,;TSC2,downstream_gene_variant,,ENST00000644335,;TSC2,downstream_gene_variant,,ENST00000644399,;TSC2,downstream_gene_variant,,ENST00000646388,;MIR1225,upstream_gene_variant,,ENST00000408729,;AC009065.2,non_coding_transcript_exon_variant,,ENST00000570072,;AC009065.2,upstream_gene_variant,,ENST00000563284,;AC009065.5,downstream_gene_variant,,ENST00000565937,;TSC2,downstream_gene_variant,,ENST00000642728,;TSC2,downstream_gene_variant,,ENST00000646634,;PKD1,3_prime_UTR_variant,,ENST00000487932,;PKD1,3_prime_UTR_variant,,ENST00000561668,;PKD1,non_coding_transcript_exon_variant,,ENST00000485120,;PKD1,intron_variant,,ENST00000564313,;TSC2,downstream_gene_variant,,ENST00000439117,;PKD1,upstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000472659,;TSC2,downstream_gene_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000562425,;PKD1,downstream_gene_variant,,ENST00000567355,;PKD1,downstream_gene_variant,,ENST00000568796,;TSC2,downstream_gene_variant,,ENST00000569110,;TSC2,downstream_gene_variant,,ENST00000569930,;TSC2,downstream_gene_variant,,ENST00000642791,;TSC2,downstream_gene_variant,,ENST00000643177,;TSC2,downstream_gene_variant,,ENST00000643426,;TSC2,downstream_gene_variant,,ENST00000644278,;TSC2,downstream_gene_variant,,ENST00000645024,;TSC2,downstream_gene_variant,,ENST00000646557,;TSC2,downstream_gene_variant,,ENST00000646674,;TSC2,downstream_gene_variant,,ENST00000647042,;TSC2,downstream_gene_variant,,ENST00000647180,;,regulatory_region_variant,,ENSR00000082436,; C ENSG00000008710 ENST00000262304 Transcript missense_variant 11826/14138 11617/12912 3873/4303 F/V Ttc/Gtc 1 -1 PKD1 HGNC HGNC:9008 protein_coding YES CCDS32369.1 ENSP00000262304 P98161 UPI00001B0454 NM_001009944.2 deleterious(0.01) probably_damaging(1) 42/46 Pfam_domain:PF08016,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF175 MODERATE 1 SNV 1 1 PASS AAC . . 2091518 TAOK2 . GRCh38 chr16 29987394 29987394 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.3122T>G p.Val1041Gly p.V1041G ENST00000308893 16/16 67 53 13 40 40 0 TAOK2,missense_variant,p.Val1041Gly,ENST00000308893,NM_016151.3;TAOK2,missense_variant,p.Val868Gly,ENST00000416441,;TAOK2,missense_variant,p.Val928Gly,ENST00000543033,NM_001252043.1;TAOK2,intron_variant,,ENST00000279394,NM_004783.3;HIRIP3,downstream_gene_variant,,ENST00000279392,NM_003609.4;TAOK2,non_coding_transcript_exon_variant,,ENST00000566552,;TAOK2,upstream_gene_variant,,ENST00000570844,; G ENSG00000149930 ENST00000308893 Transcript missense_variant 4165/5169 3122/3708 1041/1235 V/G gTt/gGt 1 1 TAOK2 HGNC HGNC:16835 protein_coding YES CCDS10663.1 ENSP00000310094 Q9UL54 UPI000013EDDA NM_016151.3 deleterious_low_confidence(0) possibly_damaging(0.829) 16/16 Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 29987394 ZNF629 . GRCh38 chr16 30783129 30783129 + Missense_Mutation SNP C C A 7316-230 BS_K44TMQ9G C C c.1199G>T p.Arg400Leu p.R400L ENST00000262525 3/3 58 44 6 39 39 0 ZNF629,missense_variant,p.Arg400Leu,ENST00000262525,NM_001080417.1,NM_001345970.1; A ENSG00000102870 ENST00000262525 Transcript missense_variant 1407/6087 1199/2610 400/869 R/L cGg/cTg COSM3508947 1 -1 ZNF629 HGNC HGNC:29008 protein_coding YES CCDS45463.1 ENSP00000262525 Q9UEG4 UPI00001C1FA5 NM_001080417.1,NM_001345970.1 deleterious(0) possibly_damaging(0.834) 3/3 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226,hmmpanther:PTHR23226,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS CCG . . 30783129 PRSS53 . GRCh38 chr16 31085006 31085006 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.1053A>C p.Glu351Asp p.E351D ENST00000280606 8/11 85 65 15 40 40 0 PRSS53,missense_variant,p.Glu351Asp,ENST00000280606,NM_001039503.2;ZNF646,downstream_gene_variant,,ENST00000300850,NM_014699.3;ZNF646,downstream_gene_variant,,ENST00000394979,;AC135050.2,downstream_gene_variant,,ENST00000529564,;AC135050.2,downstream_gene_variant,,ENST00000532364,;AC135050.2,3_prime_UTR_variant,,ENST00000533518,;PRSS53,non_coding_transcript_exon_variant,,ENST00000486499,;PRSS53,downstream_gene_variant,,ENST00000492427,;,regulatory_region_variant,,ENSR00000085296,; G ENSG00000151006 ENST00000280606 Transcript missense_variant 1207/2181 1053/1662 351/553 E/D gaA/gaC 1 -1 PRSS53 HGNC HGNC:34407 protein_coding YES CCDS42153.1 ENSP00000280606 Q2L4Q9 UPI000059D375 NM_001039503.2 tolerated(0.3) benign(0.046) 8/11 cd00190,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24276,hmmpanther:PTHR24276:SF61 MODERATE 1 SNV 1 PASS ATT . . 31085006 MMP15 . GRCh38 chr16 58041811 58041811 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.1105A>C p.Ile369Leu p.I369L ENST00000219271 6/10 62 51 7 41 41 0 MMP15,missense_variant,p.Ile369Leu,ENST00000219271,NM_002428.3;MMP15,downstream_gene_variant,,ENST00000570065,; C ENSG00000102996 ENST00000219271 Transcript missense_variant 1890/4250 1105/2010 369/669 I/L Atc/Ctc 1 1 MMP15 HGNC HGNC:7161 protein_coding YES CCDS10792.1 ENSP00000219271 P51511 A0A024R6U8 UPI000003DC75 NM_002428.3 deleterious(0.03) possibly_damaging(0.841) 6/10 Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF25,Superfamily_domains:SSF50923,cd00094,mobidb-lite MODERATE 1 SNV 1 PASS CAT . . 58041811 CHST6 . GRCh38 chr16 75479758 75479758 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.71T>G p.Phe24Cys p.F24C ENST00000332272 3/3 47 36 10 32 31 1 CHST6,missense_variant,p.Phe24Cys,ENST00000332272,NM_021615.4;CHST6,missense_variant,p.Phe24Cys,ENST00000390664,;AC009163.1,intron_variant,,ENST00000530512,; C ENSG00000183196 ENST00000332272 Transcript missense_variant 251/7957 71/1188 24/395 F/C tTt/tGt 1 -1 CHST6 HGNC HGNC:6938 protein_coding YES CCDS10918.1 ENSP00000328983 Q9GZX3 UPI00000467C8 NM_021615.4 tolerated(0.13) benign(0.001) 3/3 PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF4,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 3 1 PASS AAA . . 75479758 GSE1 . GRCh38 chr16 85657439 85657439 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.1475A>C p.Asn492Thr p.N492T ENST00000253458 8/16 61 47 11 44 44 0 GSE1,missense_variant,p.Asn492Thr,ENST00000253458,NM_014615.3;GSE1,missense_variant,p.Asn419Thr,ENST00000393243,NM_001278184.1;GSE1,missense_variant,p.Asn299Thr,ENST00000412692,;GSE1,missense_variant,p.Asn388Thr,ENST00000405402,NM_001134473.2;GSE1,downstream_gene_variant,,ENST00000411612,;GSE1,downstream_gene_variant,,ENST00000635906,;RN7SL381P,upstream_gene_variant,,ENST00000577658,;GSE1,upstream_gene_variant,,ENST00000469381,;GSE1,upstream_gene_variant,,ENST00000479488,; C ENSG00000131149 ENST00000253458 Transcript missense_variant 1651/7495 1475/3654 492/1217 N/T aAt/aCt 1 1 GSE1 HGNC HGNC:28979 protein_coding YES CCDS10952.1 ENSP00000253458 Q14687 UPI0000185F04 NM_014615.3 deleterious(0.01) possibly_damaging(0.629) 8/16 hmmpanther:PTHR17608 MODERATE 1 SNV 5 PASS AAT . . 85657439 ASGR1 . GRCh38 chr17 7174018 7174018 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.644A>C p.His215Pro p.H215P ENST00000269299 8/9 79 69 6 52 50 0 ASGR1,missense_variant,p.His176Pro,ENST00000574388,;ASGR1,missense_variant,p.His215Pro,ENST00000269299,NM_001671.4;ASGR1,missense_variant,p.His176Pro,ENST00000619926,NM_001197216.2;ASGR1,missense_variant,p.His114Pro,ENST00000380920,;ASGR1,missense_variant,p.His143Pro,ENST00000574330,;ASGR1,missense_variant,p.His75Pro,ENST00000572879,;ASGR1,downstream_gene_variant,,ENST00000570576,;ASGR1,downstream_gene_variant,,ENST00000573083,;ASGR1,downstream_gene_variant,,ENST00000573596,;,regulatory_region_variant,,ENSR00000090817,; G ENSG00000141505 ENST00000269299 Transcript missense_variant 1044/1504 644/876 215/291 H/P cAc/cCc 1 -1 ASGR1 HGNC HGNC:742 protein_coding YES CCDS11089.1 ENSP00000269299 P07306 Q6FGQ5 UPI0000001604 NM_001671.4 deleterious(0) benign(0.33) 8/9 Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF314,SMART_domains:SM00034,Superfamily_domains:SSF56436,cd03590 MODERATE 1 SNV 1 PASS GTG . . 7174018 HES7 . GRCh38 chr17 8122019 8122019 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.245T>G p.Val82Gly p.V82G ENST00000541682 4/4 52 39 8 50 48 0 HES7,missense_variant,p.Val82Gly,ENST00000541682,NM_001165967.1;HES7,missense_variant,p.Val77Gly,ENST00000317814,NM_032580.3;HES7,missense_variant,p.Val74Gly,ENST00000577735,;ALOXE3,upstream_gene_variant,,ENST00000318227,NM_001165960.1;ALOXE3,upstream_gene_variant,,ENST00000380149,;ALOXE3,upstream_gene_variant,,ENST00000448843,NM_021628.2;,regulatory_region_variant,,ENSR00000282321,; C ENSG00000179111 ENST00000541682 Transcript missense_variant 245/1674 245/693 82/230 V/G gTt/gGt 1 -1 HES7 HGNC HGNC:15977 protein_coding YES CCDS54085.1 ENSP00000446205 Q9BYE0 UPI0000E59E09 NM_001165967.1 tolerated(0.31) benign(0.006) 4/4 hmmpanther:PTHR10985:SF84,hmmpanther:PTHR10985,Gene3D:4.10.280.10 MODERATE 1 SNV 1 1 PASS AAC . . 8122019 CPD . GRCh38 chr17 30379535 30379535 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.555T>G p.Asp185Glu p.D185E ENST00000225719 1/21 61 50 7 44 43 0 CPD,missense_variant,p.Asp185Glu,ENST00000225719,NM_001304.4;CPD,upstream_gene_variant,,ENST00000543464,NM_001199775.1;CPD,upstream_gene_variant,,ENST00000583275,;,regulatory_region_variant,,ENSR00000092988,; G ENSG00000108582 ENST00000225719 Transcript missense_variant 631/9394 555/4143 185/1380 D/E gaT/gaG 1 1 CPD HGNC HGNC:2301 protein_coding YES CCDS11257.1 ENSP00000225719 O75976 UPI000000DAF7 NM_001304.4 deleterious(0) probably_damaging(0.998) 1/21 cd03868,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF73,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187 MODERATE 1 SNV 1 PASS ATG . . 30379535 CASC3 . GRCh38 chr17 40140599 40140599 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.51A>C p.Glu17Asp p.E17D ENST00000264645 1/14 64 47 14 25 25 0 CASC3,missense_variant,p.Glu17Asp,ENST00000264645,NM_007359.4;MSL1,downstream_gene_variant,,ENST00000398532,;CASC3,upstream_gene_variant,,ENST00000584997,;CASC3,non_coding_transcript_exon_variant,,ENST00000418132,;CASC3,non_coding_transcript_exon_variant,,ENST00000581849,;CASC3,non_coding_transcript_exon_variant,,ENST00000583649,;MSL1,downstream_gene_variant,,ENST00000339569,;MSL1,downstream_gene_variant,,ENST00000580086,;,regulatory_region_variant,,ENSR00000094037,; C ENSG00000108349 ENST00000264645 Transcript missense_variant 277/4116 51/2112 17/703 E/D gaA/gaC 1 1 CASC3 HGNC HGNC:17040 protein_coding YES CCDS11362.1 ENSP00000264645 O15234 UPI000000DAAA NM_007359.4 tolerated_low_confidence(0.73) benign(0.012) 1/14 PDB-ENSP_mappings:5xjc.x,hmmpanther:PTHR13434,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAT . . 40140599 KRTAP4-7 . GRCh38 chr17 41084375 41084375 + Missense_Mutation SNP T T C rs189343211 7316-230 BS_K44TMQ9G T T c.169T>C p.Ser57Pro p.S57P ENST00000391417 1/1 47 36 9 40 39 1 KRTAP4-7,missense_variant,p.Ser57Pro,ENST00000391417,NM_033061.3;KRTAP4-7,missense_variant,p.Ser57Pro,ENST00000621138,;,regulatory_region_variant,,ENSR00000094192,; C ENSG00000240871 ENST00000391417 Transcript missense_variant 226/992 169/468 57/155 S/P Tct/Cct rs189343211,COSM417544,COSM417543 1 1 KRTAP4-7 HGNC HGNC:18898 protein_coding YES CCDS45673.1 ENSP00000375236 Q9BYR0 UPI00001B0238 NM_033061.3 tolerated(0.4) benign(0.001) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF137,Pfam_domain:PF13885 0,1,1 MODERATE 1 SNV 0,1,1 PASS GTC . . 0.00941 0.004295 0.05515 0.0007589 0.002409 0.001457 0.001558 0.007629 0.0008186 41084375 KRTAP4-2 . GRCh38 chr17 41177818 41177818 + Missense_Mutation SNP T T A 7316-230 BS_K44TMQ9G T T c.347A>T p.Tyr116Phe p.Y116F ENST00000377726 1/1 70 56 6 55 54 0 KRTAP4-2,missense_variant,p.Tyr116Phe,ENST00000377726,NM_033062.3; A ENSG00000244537 ENST00000377726 Transcript missense_variant 391/763 347/411 116/136 Y/F tAc/tTc COSM5458060,COSM5458059 1 -1 KRTAP4-2 HGNC HGNC:18900 protein_coding YES CCDS11384.1 ENSP00000366955 Q9BYR5 UPI0000246F2E NM_033062.3 tolerated(0.05) benign(0) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF37 1,1 MODERATE 1 SNV 1,1 PASS GTA . . 41177818 GHDC . GRCh38 chr17 42189777 42189777 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.1519T>G p.Phe507Val p.F507V ENST00000301671 9/9 62 46 14 49 48 0 GHDC,missense_variant,p.Phe507Val,ENST00000301671,;GHDC,missense_variant,p.Phe507Val,ENST00000587427,NM_032484.4;GHDC,3_prime_UTR_variant,,ENST00000428494,;GHDC,3_prime_UTR_variant,,ENST00000414034,NM_001142623.1;GHDC,intron_variant,,ENST00000593209,;HCRT,upstream_gene_variant,,ENST00000293330,NM_001524.1;GHDC,downstream_gene_variant,,ENST00000588352,;GHDC,downstream_gene_variant,,ENST00000590249,;GHDC,downstream_gene_variant,,ENST00000586692,;GHDC,downstream_gene_variant,,ENST00000590520,;GHDC,downstream_gene_variant,,ENST00000585375,;GHDC,downstream_gene_variant,,ENST00000585735,;GHDC,downstream_gene_variant,,ENST00000588762,; C ENSG00000167925 ENST00000301671 Transcript missense_variant 1961/2650 1519/1593 507/530 F/V Ttc/Gtc 1 -1 GHDC HGNC HGNC:24438 protein_coding YES CCDS11422.1 ENSP00000301671 Q8N2G8 A0A024R1Y7 UPI000006E533 tolerated(0.48) benign(0.096) 9/9 hmmpanther:PTHR31901,hmmpanther:PTHR31901:SF5 MODERATE SNV 2 PASS AAG . . 42189777 SMURF2 . GRCh38 chr17 64661855 64661855 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.26A>C p.Asn9Thr p.N9T ENST00000262435 1/19 58 40 8 44 42 0 SMURF2,missense_variant,p.Asn9Thr,ENST00000262435,NM_022739.3;SMURF2,missense_variant,p.Asn9Thr,ENST00000585301,;SMURF2,upstream_gene_variant,,ENST00000578200,;SMURF2,missense_variant,p.Asn9Thr,ENST00000582081,;SMURF2,missense_variant,p.Asn9Thr,ENST00000578386,;,regulatory_region_variant,,ENSR00000096996,; G ENSG00000108854 ENST00000262435 Transcript missense_variant 214/2918 26/2247 9/748 N/T aAc/aCc 1 -1 SMURF2 HGNC HGNC:16809 protein_coding YES CCDS32707.1 ENSP00000262435 Q9HAU4 UPI00001361C5 NM_022739.3 tolerated(0.09) benign(0) 1/19 hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF300,PIRSF_domain:PIRSF001569 MODERATE 1 SNV 1 PASS GTT . . 64661855 QRICH2 . GRCh38 chr17 76292053 76292053 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.2176A>C p.Ile726Leu p.I726L ENST00000262765 4/19 78 62 6 52 49 0 QRICH2,missense_variant,p.Ile892Leu,ENST00000636395,;QRICH2,missense_variant,p.Ile726Leu,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; G ENSG00000129646 ENST00000262765 Transcript missense_variant 2356/5357 2176/4992 726/1663 I/L Atc/Ctc 1 -1 QRICH2 HGNC HGNC:25326 protein_coding YES CCDS32741.1 ENSP00000262765 Q9H0J4 UPI000006FECD NM_032134.2 deleterious(0.04) benign(0) 4/19 MODERATE 1 SNV 1 PASS ATC . . 76292053 COLEC12 . GRCh38 chr18 334957 334957 + Missense_Mutation SNP T T G 7316-230 BS_K44TMQ9G T T c.1601A>C p.Lys534Thr p.K534T ENST00000400256 6/10 68 55 12 37 37 0 COLEC12,missense_variant,p.Lys534Thr,ENST00000400256,NM_130386.2;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,; G ENSG00000158270 ENST00000400256 Transcript missense_variant 1809/5742 1601/2229 534/742 K/T aAa/aCa COSM6385311 1 -1 COLEC12 HGNC HGNC:16016 protein_coding YES CCDS32782.1 ENSP00000383115 Q5KU26 UPI00002018EC NM_130386.2 tolerated(0.07) benign(0.229) 6/10 Gene3D:2.160.20.50,Pfam_domain:PF01391,hmmpanther:PTHR44792,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS TTT . . 334957 AP005230.1 . GRCh38 chr18 1906433 1906434 + Splice_Region INS - - A rs112783246 7316-230 BS_K44TMQ9G - - n.291-4dup ENST00000584867 69 48 12 39 33 0 AP005230.1,splice_region_variant,,ENST00000584867,;AP005230.1,intron_variant,,ENST00000585072,; A ENSG00000263745 ENST00000584867 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs112783246 1 -1 AP005230.1 Clone_based_ensembl_gene lincRNA 3/5 0.2346 0.5651 0.1628 0.0407 0.16 0.1155 LOW 1 insertion 2 PASS TGA . . 1906433 CFD . GRCh38 chr19 861937 861937 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.617A>C p.Asn206Thr p.N206T ENST00000592860 4/5 66 52 10 27 27 0 CFD,missense_variant,p.Asn199Thr,ENST00000327726,NM_001928.3;CFD,missense_variant,p.Asn206Thr,ENST00000592860,NM_001317335.1; C ENSG00000197766 ENST00000592860 Transcript missense_variant 643/809 617/783 206/260 N/T aAt/aCt 1 1 CFD HGNC HGNC:2771 protein_coding YES CCDS82261.1 ENSP00000468253 K7ERG9 UPI00028409BD NM_001317335.1 tolerated(0.61) benign(0.053) 4/5 cd00190,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR43890:SF17,hmmpanther:PTHR43890 MODERATE 1 SNV 1 1 PASS AAT . . 861937 REXO1 . GRCh38 chr19 1828142 1828142 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.647T>G p.Val216Gly p.V216G ENST00000170168 2/16 71 59 11 31 31 0 REXO1,missense_variant,p.Val216Gly,ENST00000170168,NM_020695.3;AC012615.6,downstream_gene_variant,,ENST00000587741,;AC012615.6,downstream_gene_variant,,ENST00000590531,;AC012615.6,downstream_gene_variant,,ENST00000593201,;REXO1,non_coding_transcript_exon_variant,,ENST00000587524,;AC012615.6,downstream_gene_variant,,ENST00000590823,;,regulatory_region_variant,,ENSR00000105752,; C ENSG00000079313 ENST00000170168 Transcript missense_variant 752/4591 647/3666 216/1221 V/G gTt/gGt 1 -1 REXO1 HGNC HGNC:24616 protein_coding YES CCDS32866.1 ENSP00000170168 Q8N1G1 UPI0000202F63 NM_020695.3 tolerated(0.11) benign(0.047) 2/16 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 1828142 SEMA6B . GRCh38 chr19 4543638 4543638 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.2630A>C p.Tyr877Ser p.Y877S ENST00000586582 17/17 63 47 12 36 33 1 SEMA6B,missense_variant,p.Tyr877Ser,ENST00000586582,NM_032108.3;SEMA6B,intron_variant,,ENST00000586965,;LRG1,upstream_gene_variant,,ENST00000306390,NM_052972.2;LRG1,upstream_gene_variant,,ENST00000586883,;AC011498.4,upstream_gene_variant,,ENST00000586020,;SEMA6B,downstream_gene_variant,,ENST00000589889,;,regulatory_region_variant,,ENSR00000106224,; G ENSG00000167680 ENST00000586582 Transcript missense_variant 2941/3986 2630/2667 877/888 Y/S tAt/tCt 1 -1 SEMA6B HGNC HGNC:10739 protein_coding YES CCDS12131.1 ENSP00000467290 Q9H3T3 UPI000004BA6B NM_032108.3 tolerated_low_confidence(0.18) benign(0.01) 17/17 mobidb-lite,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10 MODERATE 1 SNV 1 PASS ATA . . 4543638 ZNF699 . GRCh38 chr19 9296456 9296456 + Missense_Mutation SNP G G T 7316-230 BS_K44TMQ9G G G c.948C>A p.Phe316Leu p.F316L ENST00000591998 6/6 77 64 5 52 50 0 ZNF699,missense_variant,p.Phe316Leu,ENST00000591998,NM_198535.2;ZNF699,missense_variant,p.Phe316Leu,ENST00000308650,;AC011451.1,downstream_gene_variant,,ENST00000591336,;,regulatory_region_variant,,ENSR00000106892,; T ENSG00000196110 ENST00000591998 Transcript missense_variant 1177/3358 948/1929 316/642 F/L ttC/ttA COSM5597960 1 -1 ZNF699 HGNC HGNC:24750 protein_coding YES CCDS42495.1 ENSP00000467723 Q32M78 UPI00001D825F NM_198535.2 deleterious(0.02) probably_damaging(0.998) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF694,hmmpanther:PTHR24377:SF694,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1 MODERATE SNV 5 1 PASS TGA . . 9296456 ZNF439 . GRCh38 chr19 11868309 11868309 + Missense_Mutation SNP C C A rs752677227 7316-230 BS_K44TMQ9G C C c.1240C>A p.Gln414Lys p.Q414K ENST00000304030 3/3 47 40 6 34 34 0 ZNF439,missense_variant,p.Gln414Lys,ENST00000304030,NM_152262.2,NM_001348720.1,NM_001348723.1,NM_001348719.1,NM_001348718.1;ZNF439,missense_variant,p.Gln278Lys,ENST00000455282,NM_001348724.1;ZNF439,downstream_gene_variant,,ENST00000442091,;ZNF439,intron_variant,,ENST00000592534,; A ENSG00000171291 ENST00000304030 Transcript missense_variant 1440/2622 1240/1500 414/499 Q/K Caa/Aaa rs752677227 1 1 ZNF439 HGNC HGNC:20873 protein_coding YES CCDS12268.1 ENSP00000305077 Q8NDP4 UPI000006F768 NM_152262.2,NM_001348720.1,NM_001348723.1,NM_001348719.1,NM_001348718.1 tolerated(0.45) possibly_damaging(0.622) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF244,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.10.69.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GCA . . 11868309 CACNA1A . GRCh38 chr19 13209427 13209427 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.6429T>G p.Asp2143Glu p.D2143E ENST00000638029 46/48 68 55 11 41 41 0 CACNA1A,missense_variant,p.Asp2138Glu,ENST00000638009,NM_001127221.1;CACNA1A,missense_variant,p.Asp2138Glu,ENST00000635895,;CACNA1A,missense_variant,p.Asp2138Glu,ENST00000637769,;CACNA1A,missense_variant,p.Asp2137Glu,ENST00000360228,NM_001127222.1;CACNA1A,missense_variant,p.Asp2143Glu,ENST00000614285,;CACNA1A,missense_variant,p.Asp2091Glu,ENST00000637736,;CACNA1A,missense_variant,p.Asp2138Glu,ENST00000636389,;CACNA1A,missense_variant,p.Asp2143Glu,ENST00000638029,NM_023035.2;CACNA1A,missense_variant,p.Asp2143Glu,ENST00000637432,NM_000068.3;CACNA1A,missense_variant,p.Asp2139Glu,ENST00000573710,;CACNA1A,missense_variant,p.Asp2138Glu,ENST00000635727,;CACNA1A,missense_variant,p.Asp2126Glu,ENST00000636012,;CACNA1A,missense_variant,p.Asp2126Glu,ENST00000637276,;CACNA1A,missense_variant,p.Asp2139Glu,ENST00000637927,;CACNA1A,missense_variant,p.Asp2140Glu,ENST00000636549,NM_001174080.1;CACNA1A,missense_variant,p.Asp612Glu,ENST00000587525,;CACNA1A,missense_variant,p.Asp512Glu,ENST00000585802,;CACNA1A,missense_variant,p.Asp427Glu,ENST00000636473,;CACNA1A,downstream_gene_variant,,ENST00000637819,;CACNA1A,3_prime_UTR_variant,,ENST00000636768,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000636610,;CACNA1A,downstream_gene_variant,,ENST00000635988,;CACNA1A,downstream_gene_variant,,ENST00000636074,;CACNA1A,downstream_gene_variant,,ENST00000638114,;,regulatory_region_variant,,ENSR00000107393,; C ENSG00000141837 ENST00000638029 Transcript missense_variant 6665/7814 6429/7539 2143/2512 D/E gaT/gaG 1 -1 CACNA1A HGNC HGNC:1388 protein_coding YES CCDS82300.1 ENSP00000489829 A0A087WW63 UPI000152B4F1 NM_023035.2 tolerated(0.56) benign(0.003) 46/48 mobidb-lite,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59 MODERATE 1 SNV 5 1 PASS AAT . . 13209427 NR2F6 . GRCh38 chr19 17245220 17245220 + Translation_Start_Site SNP T T G novel 7316-230 BS_K44TMQ9G T T c.1A>C p.Met1? p.M1? ENST00000291442 1/4 39 31 6 39 36 1 NR2F6,start_lost,p.Met1?,ENST00000291442,NM_005234.3;AC010646.1,intron_variant,,ENST00000594059,;USHBP1,downstream_gene_variant,,ENST00000252597,NM_031941.3,NM_001321417.1;USHBP1,downstream_gene_variant,,ENST00000431146,NM_001297703.1;NR2F6,upstream_gene_variant,,ENST00000596878,;USHBP1,downstream_gene_variant,,ENST00000324554,;USHBP1,downstream_gene_variant,,ENST00000597928,;,regulatory_region_variant,,ENSR00000107863,; G ENSG00000160113 ENST00000291442 Transcript start_lost 721/2404 1/1215 1/404 M/L Atg/Ctg 1 -1 NR2F6 HGNC HGNC:7977 protein_coding YES CCDS12352.1 ENSP00000291442 P10588 F1D8R3 UPI0000129B28 NM_005234.3 tolerated_low_confidence(0.09) possibly_damaging(0.456) 1/4 hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF44,mobidb-lite HIGH 1 SNV 1 PASS ATA . . 17245220 ZNF90 . GRCh38 chr19 20118734 20118734 + Nonsense_Mutation SNP A A T 7316-230 BS_K44TMQ9G A A c.1180A>T p.Lys394Ter p.K394* ENST00000418063 4/4 64 47 10 38 35 0 ZNF90,stop_gained,p.Lys394Ter,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; T ENSG00000213988 ENST00000418063 Transcript stop_gained 1292/2310 1180/1806 394/601 K/* Aag/Tag COSM6304493 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 1 HIGH 1 SNV 1 1 PASS AAA . . 20118734 ZNF90 . GRCh38 chr19 20118897 20118897 + Missense_Mutation SNP G G C rs368871975 7316-230 BS_K44TMQ9G G G c.1343G>C p.Ser448Thr p.S448T ENST00000418063 4/4 52 40 7 31 31 0 ZNF90,missense_variant,p.Ser448Thr,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; C ENSG00000213988 ENST00000418063 Transcript missense_variant 1455/2310 1343/1806 448/601 S/T aGt/aCt rs368871975,COSM349529,COSM1304248 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0.0004 0.0015 0.001445 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGT . . 0.0002111 0.002728 0.0002746 3.332e-05 20118897 ZNF98 . GRCh38 chr19 22391705 22391705 + Missense_Mutation SNP C C A 7316-230 BS_K44TMQ9G C C c.1530G>T p.Met510Ile p.M510I ENST00000357774 4/4 65 54 7 44 44 0 ZNF98,missense_variant,p.Met510Ile,ENST00000357774,NM_001098626.1;ZNF98,downstream_gene_variant,,ENST00000593657,; A ENSG00000197360 ENST00000357774 Transcript missense_variant 1652/2338 1530/1719 510/572 M/I atG/atT COSM5594125,COSM5594124,COSM287067,COSM287066 1 -1 ZNF98 HGNC HGNC:13174 protein_coding YES CCDS46031.1 ENSP00000350418 A6NK75 UPI0000251DC5 NM_001098626.1 tolerated(0.45) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1,1,1 MODERATE 1 SNV 1 1,1,1,1 PASS TCA . . 22391705 ZNF99 . GRCh38 chr19 22758558 22758558 + Missense_Mutation SNP G G T rs767810457 7316-230 BS_K44TMQ9G G G c.1351C>A p.Gln451Lys p.Q451K ENST00000596209 4/4 55 40 14 50 47 1 ZNF99,missense_variant,p.Gln451Lys,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Gln360Lys,ENST00000397104,; T ENSG00000213973 ENST00000596209 Transcript missense_variant 1442/7817 1351/2595 451/864 Q/K Caa/Aaa rs767810457,COSM6150777,COSM4280923 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TGC . . 9.177e-05 7.283e-05 0.0008194 2.834e-05 0.0001778 22758558 ZNF254 . GRCh38 chr19 24127503 24127503 + Missense_Mutation SNP A A T 7316-230 BS_K44TMQ9G A A c.1503A>T p.Gln501His p.Q501H ENST00000357002 4/4 46 29 5 45 40 0 ZNF254,missense_variant,p.Gln460His,ENST00000613065,NM_001278662.1,NM_001278677.1,NM_001278661.1;ZNF254,missense_variant,p.Gln428His,ENST00000611359,NM_001278664.1;ZNF254,missense_variant,p.Gln501His,ENST00000357002,NM_203282.3;ZNF254,missense_variant,p.Gln416His,ENST00000616028,NM_001278678.1,NM_001278663.1;ZNF254,downstream_gene_variant,,ENST00000594886,;ZNF254,downstream_gene_variant,,ENST00000595187,; T ENSG00000213096 ENST00000357002 Transcript missense_variant 1618/3967 1503/1980 501/659 Q/H caA/caT COSM3672827 1 1 ZNF254 HGNC HGNC:13047 protein_coding YES CCDS32983.1 ENSP00000349494 O75437 UPI0000366DB6 NM_203282.3 tolerated(0.67) benign(0.052) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS AAT . . 24127503 CEBPA . GRCh38 chr19 33302123 33302123 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.292A>C p.Thr98Pro p.T98P ENST00000498907 1/1 40 29 7 48 48 0 CEBPA,missense_variant,p.Thr98Pro,ENST00000498907,NM_001287435.1,NM_004364.4,NM_001285829.1,NM_001287424.1;AC008738.2,upstream_gene_variant,,ENST00000593041,;AC008738.5,downstream_gene_variant,,ENST00000587312,;AC008738.3,downstream_gene_variant,,ENST00000589932,;CEBPA-DT,upstream_gene_variant,,ENST00000592982,;,regulatory_region_variant,,ENSR00000108807,; G ENSG00000245848 ENST00000498907 Transcript missense_variant 442/2631 292/1077 98/358 T/P Acg/Ccg 1 -1 CEBPA HGNC HGNC:1833 protein_coding YES CCDS54243.1 ENSP00000427514 P49715 UPI0000167F92 NM_001287435.1,NM_004364.4,NM_001285829.1,NM_001287424.1 tolerated_low_confidence(0.27) benign(0.007) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23334:SF5,hmmpanther:PTHR23334,PIRSF_domain:PIRSF005879 MODERATE SNV 1 PASS GTG . . 33302123 SBSN . GRCh38 chr19 35526913 35526913 + Missense_Mutation SNP G G T rs1332850501 7316-230 BS_K44TMQ9G G G c.1369C>A p.Gln457Lys p.Q457K ENST00000452271 1/4 58 52 6 43 41 0 SBSN,missense_variant,p.Gln457Lys,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; T ENSG00000189001 ENST00000452271 Transcript missense_variant 1398/1945 1369/1773 457/590 Q/K Cag/Aag rs1332850501 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 tolerated(1) benign(0) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3 MODERATE 1 SNV 1 PASS TGC . . 35526913 ZNF461 . GRCh38 chr19 36638846 36638846 + Missense_Mutation SNP T T A 7316-230 BS_K44TMQ9G T T c.1499A>T p.Lys500Met p.K500M ENST00000588268 6/6 70 57 5 40 39 0 ZNF461,missense_variant,p.Lys500Met,ENST00000588268,NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1;ZNF461,missense_variant,p.Lys477Met,ENST00000360357,NM_001322827.1,NM_001322826.1,NM_001297623.2;ZNF461,missense_variant,p.Lys500Met,ENST00000614133,;ZNF461,missense_variant,p.Lys231Met,ENST00000618437,;ZNF382,downstream_gene_variant,,ENST00000292928,NM_032825.4;ZNF461,downstream_gene_variant,,ENST00000591370,NM_001322828.1;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000588844,;ZNF461,downstream_gene_variant,,ENST00000590361,; A ENSG00000197808 ENST00000588268 Transcript missense_variant 1727/2584 1499/1692 500/563 K/M aAg/aTg COSM5956611,COSM5956610 1 -1 ZNF461 HGNC HGNC:21629 protein_coding YES CCDS54257.1 ENSP00000467931 Q8TAF7 UPI00002021CA NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1 deleterious(0) probably_damaging(0.916) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF277,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS CTT . . 36638846 MAP3K10 . GRCh38 chr19 40192033 40192033 + Translation_Start_Site SNP T T G novel 7316-230 BS_K44TMQ9G T T c.2T>G p.Met1? p.M1? ENST00000253055 1/10 56 32 18 44 43 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; G ENSG00000130758 ENST00000253055 Transcript start_lost 290/3436 2/2865 1/954 M/R aTg/aGg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS ATG . . 40192033 BCL3 . GRCh38 chr19 44759551 44759551 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.1301T>G p.Phe434Cys p.F434C ENST00000164227 9/9 38 24 8 31 31 0 BCL3,missense_variant,p.Phe434Cys,ENST00000164227,NM_005178.4;BCL3,downstream_gene_variant,,ENST00000444487,;MIR8085,downstream_gene_variant,,ENST00000612079,;BCL3,downstream_gene_variant,,ENST00000473468,;BCL3,non_coding_transcript_exon_variant,,ENST00000474300,;BCL3,non_coding_transcript_exon_variant,,ENST00000473473,;BCL3,downstream_gene_variant,,ENST00000403534,;BCL3,downstream_gene_variant,,ENST00000464319,;BCL3,downstream_gene_variant,,ENST00000477832,;,regulatory_region_variant,,ENSR00000110089,; G ENSG00000069399 ENST00000164227 Transcript missense_variant 1545/2038 1301/1365 434/454 F/C tTt/tGt 1 1 BCL3 HGNC HGNC:998 protein_coding YES CCDS12642.2 ENSP00000164227 P20749 UPI0000D4AF29 NM_005178.4 deleterious_low_confidence(0) benign(0.397) 9/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24118:SF51,hmmpanther:PTHR24118 MODERATE 1 SNV 1 1 PASS TTT . . 44759551 EXOC3L2 . GRCh38 chr19 45238544 45238544 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.502A>C p.Lys168Gln p.K168Q ENST00000413988 2/12 58 53 5 45 45 0 EXOC3L2,missense_variant,p.Lys168Gln,ENST00000413988,;MARK4,intron_variant,,ENST00000587566,; G ENSG00000283632 ENST00000413988 Transcript missense_variant 609/2964 502/2409 168/802 K/Q Aag/Cag 1 -1 EXOC3L2 HGNC HGNC:30162 protein_coding ENSP00000400713 A0A1C7CYX0 UPI0007E52AAF deleterious(0.01) possibly_damaging(0.617) 2/12 hmmpanther:PTHR21292,hmmpanther:PTHR21292:SF7,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TTT . . 45238544 TPRX1 . GRCh38 chr19 47802463 47802463 + Missense_Mutation SNP T T A rs761558415 7316-230 BS_K44TMQ9G T T c.548A>T p.Asn183Ile p.N183I ENST00000322175 2/2 50 24 11 45 42 0 TPRX1,missense_variant,p.Asn280Ile,ENST00000535759,;TPRX1,missense_variant,p.Asn183Ile,ENST00000322175,NM_198479.2;TPRX1,missense_variant,p.Asn173Ile,ENST00000543508,; A ENSG00000178928 ENST00000322175 Transcript missense_variant 704/1924 548/1236 183/411 N/I aAc/aTc rs761558415,COSM998812,COSM6281637,COSM5037664 1 -1 TPRX1 HGNC HGNC:32174 protein_coding YES CCDS33066.1 ENSP00000323455 Q8N7U7 UPI0000198666 NM_198479.2 tolerated(0.27) benign(0) 2/2 hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF25,mobidb-lite,Low_complexity_(Seg):seg 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS GTT . . 0.0001861 0.0003404 0.0004432 0.0009994 0.0001075 0.0003367 47802463 TPRX1 . GRCh38 chr19 47802487 47802487 + Missense_Mutation SNP T T A rs1414606125 7316-230 BS_K44TMQ9G T T c.524A>T p.Asn175Ile p.N175I ENST00000322175 2/2 53 33 9 48 43 0 TPRX1,missense_variant,p.Asn272Ile,ENST00000535759,;TPRX1,missense_variant,p.Asn175Ile,ENST00000322175,NM_198479.2;TPRX1,missense_variant,p.Asn165Ile,ENST00000543508,; A ENSG00000178928 ENST00000322175 Transcript missense_variant 680/1924 524/1236 175/411 N/I aAc/aTc rs1414606125 1 -1 TPRX1 HGNC HGNC:32174 protein_coding YES CCDS33066.1 ENSP00000323455 Q8N7U7 UPI0000198666 NM_198479.2 tolerated_low_confidence(0.25) benign(0) 2/2 hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF25,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 47802487 TEAD2 . GRCh38 chr19 49351321 49351321 + Missense_Mutation SNP G G A rs1052878203 7316-230 BS_K44TMQ9G G G c.584C>T p.Pro195Leu p.P195L ENST00000598810 8/13 52 45 7 30 28 0 TEAD2,missense_variant,p.Pro194Leu,ENST00000377214,;TEAD2,missense_variant,p.Pro195Leu,ENST00000598810,NM_001256661.1;TEAD2,missense_variant,p.Pro194Leu,ENST00000601519,NM_001256659.1,NM_001256658.1;TEAD2,missense_variant,p.Pro191Leu,ENST00000311227,NM_003598.1;TEAD2,missense_variant,p.Pro195Leu,ENST00000593945,NM_001256660.1;TEAD2,missense_variant,p.Pro63Leu,ENST00000539846,NM_001256662.1;TEAD2,missense_variant,p.Pro60Leu,ENST00000596757,;AC010524.1,upstream_gene_variant,,ENST00000596488,;TEAD2,non_coding_transcript_exon_variant,,ENST00000598397,;TEAD2,intron_variant,,ENST00000598823,; A ENSG00000074219 ENST00000598810 Transcript missense_variant 690/2191 584/1356 195/451 P/L cCc/cTc rs1052878203 1 -1 TEAD2 HGNC HGNC:11715 protein_coding YES CCDS59406.1 ENSP00000472109 Q15562 UPI000013D895 NM_001256661.1 tolerated(0.29) benign(0.382) 8/13 PIRSF_domain:PIRSF002603,hmmpanther:PTHR11834,hmmpanther:PTHR11834:SF5,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GGG . . 8.218e-06 6.04e-05 49351321 SHANK1 . GRCh38 chr19 50668305 50668305 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.3655T>G p.Ser1219Ala p.S1219A ENST00000293441 22/23 37 27 7 36 35 0 SHANK1,missense_variant,p.Ser1219Ala,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Ser1227Ala,ENST00000391814,;SHANK1,missense_variant,p.Ser1210Ala,ENST00000359082,;SHANK1,missense_variant,p.Ser606Ala,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,; C ENSG00000161681 ENST00000293441 Transcript missense_variant 3674/6643 3655/6486 1219/2161 S/A Tcg/Gcg 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 tolerated(0.55) benign(0.012) 22/23 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3 MODERATE 1 SNV 1 1 PASS GAG . . 50668305 DDRGK1 . GRCh38 chr20 3200074 3200074 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.437A>C p.Lys146Thr p.K146T ENST00000354488 4/9 48 38 8 43 41 0 DDRGK1,missense_variant,p.Lys146Thr,ENST00000354488,NM_023935.2;DDRGK1,missense_variant,p.Lys146Thr,ENST00000380201,;DDRGK1,upstream_gene_variant,,ENST00000470203,; G ENSG00000198171 ENST00000354488 Transcript missense_variant 495/1306 437/945 146/314 K/T aAa/aCa 1 -1 DDRGK1 HGNC HGNC:16110 protein_coding YES CCDS13050.1 ENSP00000346483 Q96HY6 UPI0000001C9A NM_023935.2 deleterious(0) possibly_damaging(0.542) 4/9 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09756,hmmpanther:PTHR13270,SMART_domains:SM01128,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS TTT . . 3200074 HSPA12B . GRCh38 chr20 3749978 3749978 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.1052A>C p.Tyr351Ser p.Y351S ENST00000254963 11/13 70 60 8 42 42 0 HSPA12B,missense_variant,p.Tyr351Ser,ENST00000254963,NM_052970.4,NM_001197327.1;HSPA12B,missense_variant,p.Tyr265Ser,ENST00000399701,NM_001318322.1;C20orf27,downstream_gene_variant,,ENST00000217195,NM_001039140.2;C20orf27,downstream_gene_variant,,ENST00000379772,NM_001258429.1;C20orf27,downstream_gene_variant,,ENST00000399672,NM_001258430.1;C20orf27,downstream_gene_variant,,ENST00000399683,;,regulatory_region_variant,,ENSR00000133806,;,regulatory_region_variant,,ENSR00000297145,; C ENSG00000132622 ENST00000254963 Transcript missense_variant 1197/3151 1052/2061 351/686 Y/S tAt/tCt 1 1 HSPA12B HGNC HGNC:16193 protein_coding YES CCDS13061.1 ENSP00000254963 Q96MM6 UPI00001285E5 NM_052970.4,NM_001197327.1 deleterious(0.01) benign(0.255) 11/13 Gene3D:3.30.420.40,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF39,Superfamily_domains:SSF53067,cd11736 MODERATE 1 SNV 1 PASS TAT . . 3749978 TGM2 . GRCh38 chr20 38146842 38146842 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.734A>C p.Tyr245Ser p.Y245S ENST00000361475 6/13 59 45 12 38 38 0 TGM2,missense_variant,p.Tyr245Ser,ENST00000361475,NM_198951.2,NM_001323318.1,NM_001323316.1,NM_001323317.1,NM_004613.3;TGM2,missense_variant,p.Tyr245Ser,ENST00000373403,;TGM2,downstream_gene_variant,,ENST00000453095,;TGM2,non_coding_transcript_exon_variant,,ENST00000474777,;TGM2,non_coding_transcript_exon_variant,,ENST00000468262,; G ENSG00000198959 ENST00000361475 Transcript missense_variant 908/5070 734/2064 245/687 Y/S tAc/tCc 1 -1 TGM2 HGNC HGNC:11778 protein_coding YES CCDS13302.1 ENSP00000355330 P21980 V9HWG3 UPI0000136CCB NM_198951.2,NM_001323318.1,NM_001323316.1,NM_001323317.1,NM_004613.3 tolerated(0.05) probably_damaging(0.997) 6/13 Gene3D:3.90.260.10,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF6,Superfamily_domains:SSF54001 MODERATE 1 SNV 1 PASS GTA . . 38146842 COL20A1 . GRCh38 chr20 63307501 63307501 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.508T>G p.Phe170Val p.F170V ENST00000358894 6/36 96 85 8 40 40 0 COL20A1,missense_variant,p.Phe177Val,ENST00000422202,;COL20A1,missense_variant,p.Phe170Val,ENST00000358894,NM_020882.2;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,; G ENSG00000101203 ENST00000358894 Transcript missense_variant 608/4172 508/3855 170/1284 F/V Ttc/Gtc 1 1 COL20A1 HGNC HGNC:14670 protein_coding YES CCDS46628.1 ENSP00000351767 Q9P218 UPI000051910D NM_020882.2 deleterious(0) possibly_damaging(0.621) 6/36 Gene3D:2.60.40.10,hmmpanther:PTHR44557,Superfamily_domains:SSF53300,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 63307501 SYNJ1 . GRCh38 chr21 32728040 32728040 + Translation_Start_Site SNP T T G novel 7316-230 BS_K44TMQ9G T T c.1A>C p.Met1? p.M1? ENST00000433931 1/32 50 40 10 34 34 0 SYNJ1,start_lost,p.Met1?,ENST00000382499,NM_203446.2;SYNJ1,start_lost,p.Met1?,ENST00000433931,NM_003895.3;SYNJ1,5_prime_UTR_variant,,ENST00000382491,;SYNJ1,upstream_gene_variant,,ENST00000357345,NM_001160302.1;SYNJ1,upstream_gene_variant,,ENST00000429236,;SYNJ1,upstream_gene_variant,,ENST00000456084,;SYNJ1,upstream_gene_variant,,ENST00000630077,NM_001160306.1;PAXBP1-AS1,upstream_gene_variant,,ENST00000440052,;PAXBP1-AS1,upstream_gene_variant,,ENST00000455170,;PAXBP1-AS1,upstream_gene_variant,,ENST00000458479,;,regulatory_region_variant,,ENSR00000141463,; G ENSG00000159082 ENST00000433931 Transcript start_lost 9/4852 1/4839 1/1612 M/L Atg/Ctg 1 -1 SYNJ1 HGNC HGNC:11503 protein_coding YES CCDS33539.2 ENSP00000409667 J3KQV8 UPI0001A47572 NM_003895.3 deleterious_low_confidence(0) possibly_damaging(0.902) 1/32 HIGH 1 SNV 1 1 PASS ATT . . 32728040 UMODL1 . GRCh38 chr21 42111354 42111354 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.2132A>C p.Glu711Ala p.E711A ENST00000408989 11/22 58 38 8 34 34 0 UMODL1,missense_variant,p.Glu639Ala,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Glu711Ala,ENST00000408989,NM_173568.3;UMODL1,intron_variant,,ENST00000400424,NM_001199528.2;UMODL1,intron_variant,,ENST00000408910,NM_001004416.2;UMODL1-AS1,upstream_gene_variant,,ENST00000329015,;UMODL1,upstream_gene_variant,,ENST00000475047,; C ENSG00000177398 ENST00000408989 Transcript missense_variant 2132/5262 2132/4341 711/1446 E/A gAg/gCg 1 1 UMODL1 HGNC HGNC:12560 protein_coding YES CCDS42935.1 ENSP00000386126 Q5DID0 UPI0000D6254B NM_173568.3 tolerated(0.98) benign(0) 11/22 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:2.40.155.10,hmmpanther:PTHR45146 MODERATE 1 SNV 1 PASS GAG . . 42111354 RRP1 . GRCh38 chr21 43789688 43789688 + Missense_Mutation SNP A A C novel 7316-230 BS_K44TMQ9G A A c.59A>C p.Asn20Thr p.N20T ENST00000497547 1/13 74 64 9 49 48 0 RRP1,missense_variant,p.Asn20Thr,ENST00000497547,NM_003683.5;RRP1,non_coding_transcript_exon_variant,,ENST00000475534,;RRP1,missense_variant,p.Asn20Thr,ENST00000483896,;RRP1,non_coding_transcript_exon_variant,,ENST00000492638,;RRP1,upstream_gene_variant,,ENST00000467112,;RRP1,upstream_gene_variant,,ENST00000473988,;,regulatory_region_variant,,ENSR00000142957,; C ENSG00000160214 ENST00000497547 Transcript missense_variant 176/3022 59/1386 20/461 N/T aAt/aCt 1 1 RRP1 HGNC HGNC:18785 protein_coding YES CCDS42951.1 ENSP00000417464 P56182 UPI0000130286 NM_003683.5 deleterious(0) possibly_damaging(0.686) 1/13 Pfam_domain:PF05997,hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF1 MODERATE 1 SNV 1 PASS AAT . . 43789688 COL6A2 . GRCh38 chr21 46120511 46120511 + Splice_Region SNP A A C novel 7316-230 BS_K44TMQ9G A A c.1333-4A>C ENST00000300527 77 57 12 38 37 0 COL6A2,splice_region_variant,,ENST00000300527,NM_001849.3;COL6A2,splice_region_variant,,ENST00000310645,NM_058175.2;COL6A2,splice_region_variant,,ENST00000397763,NM_058174.2;COL6A2,splice_region_variant,,ENST00000409416,;COL6A2,upstream_gene_variant,,ENST00000413758,;COL6A2,downstream_gene_variant,,ENST00000485591,; C ENSG00000142173 ENST00000300527 Transcript splice_region_variant,intron_variant 1 1 COL6A2 HGNC HGNC:2212 protein_coding YES CCDS13728.1 ENSP00000300527 P12110 UPI00001AECE0 NM_001849.3 15/27 LOW 1 SNV 1 1 PASS CAC . . 46120511 RIMBP3 . GRCh38 chr22 18608162 18608162 + Missense_Mutation SNP A A C rs201532727 7316-230 BS_K44TMQ9G A A c.3273T>G p.Asp1091Glu p.D1091E ENST00000619918 1/1 82 63 18 49 47 1 RIMBP3,missense_variant,p.Asp1091Glu,ENST00000619918,NM_015672.1;RF00492,downstream_gene_variant,,ENST00000614296,;RN7SKP131,upstream_gene_variant,,ENST00000410698,; C ENSG00000275793 ENST00000619918 Transcript missense_variant 3758/6105 3273/4920 1091/1639 D/E gaT/gaG rs201532727 1 -1 RIMBP3 HGNC HGNC:29344 protein_coding YES CCDS46665.1 ENSP00000483386 Q9UFD9 UPI0000237729 NM_015672.1 deleterious(0) probably_damaging(0.999) 1/1 PROSITE_profiles:PS50853,hmmpanther:PTHR14234:SF21,hmmpanther:PTHR14234,Gene3D:2.60.40.10,Superfamily_domains:SSF49265 MODERATE 1 SNV PASS CAT . . 0.2214 0.04842 0.3311 0.1854 0.5007 0.1573 0.128 0.1957 0.3997 18608162 C22orf39 . GRCh38 chr22 19447472 19447472 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.209A>C p.Tyr70Ser p.Y70S ENST00000399562 2/3 57 44 9 40 40 0 C22orf39,missense_variant,p.Tyr70Ser,ENST00000399562,;C22orf39,missense_variant,p.Tyr70Ser,ENST00000611555,NM_173793.4;C22orf39,missense_variant,p.Tyr70Ser,ENST00000542103,NM_001166242.1;C22orf39,missense_variant,p.Tyr33Ser,ENST00000333059,;C22orf39,missense_variant,p.Tyr33Ser,ENST00000399568,;UFD1,downstream_gene_variant,,ENST00000263202,NM_005659.6;UFD1,downstream_gene_variant,,ENST00000399523,NM_001035247.2;AC000068.1,upstream_gene_variant,,ENST00000431090,;C22orf39,missense_variant,p.Tyr33Ser,ENST00000509549,;HIRA,upstream_gene_variant,,ENST00000452818,;UFD1,downstream_gene_variant,,ENST00000459854,;UFD1,downstream_gene_variant,,ENST00000466373,;,regulatory_region_variant,,ENSR00000143746,; G ENSG00000242259 ENST00000399562 Transcript missense_variant 642/3350 209/429 70/142 Y/S tAc/tCc 1 -1 C22orf39 HGNC HGNC:27012 protein_coding YES CCDS33599.2 ENSP00000382474 Q6P5X5 UPI0000D4CFB9 deleterious(0) probably_damaging(0.972) 2/3 Pfam_domain:PF11326,hmmpanther:PTHR28052 MODERATE 1 SNV 1 PASS GTA . . 19447472 SLC16A8 . GRCh38 chr22 38082886 38082886 + Splice_Region SNP T T G novel 7316-230 BS_K44TMQ9G T T c.-8-5A>C ENST00000320521 70 56 10 42 42 0 SLC16A8,splice_region_variant,,ENST00000320521,NM_013356.2;SLC16A8,splice_region_variant,,ENST00000427592,;BAIAP2L2,downstream_gene_variant,,ENST00000332536,;BAIAP2L2,downstream_gene_variant,,ENST00000381669,NM_025045.5;BAIAP2L2,downstream_gene_variant,,ENST00000428572,;SLC16A8,intron_variant,,ENST00000469516,;,regulatory_region_variant,,ENSR00000146113,; G ENSG00000100156 ENST00000320521 Transcript splice_region_variant,intron_variant 1 -1 SLC16A8 HGNC HGNC:16270 protein_coding YES CCDS13966.1 ENSP00000321735 O95907 UPI000012F3C8 NM_013356.2 1/4 LOW 1 SNV 1 PASS TTG . . 38082886 GTPBP6 . GRCh38 chrX 318651 318651 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.137A>C p.Asn46Thr p.N46T ENST00000326153 1/10 42 26 13 44 42 2 GTPBP6,missense_variant,p.Asn46Thr,ENST00000326153,NM_012227.3;LINC00685,upstream_gene_variant,,ENST00000391707,;,regulatory_region_variant,,ENSR00000243689,; G ENSG00000178605 ENST00000326153 Transcript missense_variant 169/1907 137/1551 46/516 N/T aAt/aCt 1 -1 GTPBP6 HGNC HGNC:30189 protein_coding YES CCDS75943.1 ENSP00000316598 O43824 UPI00043B9035 NM_012227.3 tolerated(0.6) unknown(0) 1/10 mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 318651 CSF2RA . GRCh38 chrX 1303299 1303299 + Missense_Mutation SNP A A T 7316-230 BS_K44TMQ9G A A c.985A>T p.Asn329Tyr p.N329Y ENST00000417535 11/14 56 39 9 29 29 0 CSF2RA,missense_variant,p.Asn329Tyr,ENST00000417535,NM_001161530.1;CSF2RA,intron_variant,,ENST00000355432,NM_172246.2;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2;CSF2RA,intron_variant,,ENST00000381500,NM_172247.2;CSF2RA,intron_variant,,ENST00000381509,NM_001161531.1;CSF2RA,intron_variant,,ENST00000381524,;CSF2RA,intron_variant,,ENST00000381529,NM_172245.2,NM_006140.4;CSF2RA,intron_variant,,ENST00000432318,NM_001161529.1;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;RNA5SP498,upstream_gene_variant,,ENST00000411342,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000498153,;CSF2RA,intron_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000493312,;CSF2RA,intron_variant,,ENST00000486791,; T ENSG00000198223 ENST00000417535 Transcript missense_variant 1179/1955 985/1305 329/434 N/Y Aat/Tat COSM5956821 1 1 CSF2RA HGNC HGNC:2435 protein_coding YES CCDS55359.1 ENSP00000394227 P15509 UPI000159C3E4 NM_001161530.1 tolerated(0.15) benign(0.007) 11/14 hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF94 1 MODERATE 1 SNV 5 1 1 PASS CAA . . 1303299 NOX1 . GRCh38 chrX 100862500 100862500 + Missense_Mutation SNP A A G rs199769139 7316-230 BS_K44TMQ9G A A c.563T>C p.Met188Thr p.M188T ENST00000372966 6/13 57 51 6 45 45 0 NOX1,missense_variant,p.Met188Thr,ENST00000372966,NM_007052.4;NOX1,missense_variant,p.Met151Thr,ENST00000372960,NM_001271815.1;NOX1,missense_variant,p.Met188Thr,ENST00000217885,NM_013955.2;NOX1,intron_variant,,ENST00000372964,; G ENSG00000007952 ENST00000372966 Transcript missense_variant 769/2529 563/1695 188/564 M/T aTg/aCg rs199769139 1 -1 NOX1 HGNC HGNC:7889 protein_coding YES CCDS14474.1 ENSP00000362057 Q9Y5S8 UPI00001303C1 NM_007052.4 deleterious(0.01) probably_damaging(0.955) 6/13 Gene3D:1.20.950.20,Pfam_domain:PF01794,Prints_domain:PR00466,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF71,SFLDG01168,SFLDS00052,Transmembrane_helices:TMhelix 0.0005 0.0026 MODERATE 1 SNV 1 PASS CAT . . 0.0001849 0.002564 100862500 TEX13C . GRCh38 chrX 125321380 125321380 + Missense_Mutation SNP A A C rs751619238 7316-230 BS_K44TMQ9G A A c.1261A>C p.Met421Leu p.M421L ENST00000632600 1/1 71 58 11 53 51 1 TEX13C,missense_variant,p.Met421Leu,ENST00000632600,NM_001195272.1; C ENSG00000282815 ENST00000632600 Transcript missense_variant 1261/5095 1261/2982 421/993 M/L Atg/Ctg rs751619238 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.55) benign(0) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28 MODERATE 1 SNV PASS CAT . . 0.001592 0.0004165 0.0008317 0.0003408 0.01309 0.001937 0.002274 125321380 TEX13C . GRCh38 chrX 125321502 125321502 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.1383T>G p.His461Gln p.H461Q ENST00000632600 1/1 48 30 7 29 26 0 TEX13C,missense_variant,p.His461Gln,ENST00000632600,NM_001195272.1; G ENSG00000282815 ENST00000632600 Transcript missense_variant 1383/5095 1383/2982 461/993 H/Q caT/caG 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.59) benign(0.023) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,hmmpanther:PTHR23111:SF28 MODERATE 1 SNV PASS ATA . . 125321502 SOX3 . GRCh38 chrX 140504001 140504001 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.1060A>C p.Thr354Pro p.T354P ENST00000370536 1/1 51 39 5 40 40 0 SOX3,missense_variant,p.Thr354Pro,ENST00000370536,NM_005634.2;,regulatory_region_variant,,ENSR00000249192,; G ENSG00000134595 ENST00000370536 Transcript missense_variant 1116/2132 1060/1341 354/446 T/P Acc/Ccc 1 -1 SOX3 HGNC HGNC:11199 protein_coding YES CCDS14669.1 ENSP00000359567 P41225 UPI000006F00F NM_005634.2 tolerated(0.37) benign(0) 1/1 Gene3D:1.10.30.10,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF111,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 140504001 ARHGAP4 . GRCh38 chrX 153918845 153918845 + Missense_Mutation SNP T T G novel 7316-230 BS_K44TMQ9G T T c.1139A>C p.His380Pro p.H380P ENST00000370028 8/23 75 62 12 45 43 0 ARHGAP4,missense_variant,p.His380Pro,ENST00000370028,NM_001164741.1;ARHGAP4,missense_variant,p.His340Pro,ENST00000350060,NM_001666.4;ARHGAP4,missense_variant,p.His319Pro,ENST00000370016,;ARHGAP4,missense_variant,p.His317Pro,ENST00000461052,;ARHGAP4,missense_variant,p.His115Pro,ENST00000422918,;ARHGAP4,intron_variant,,ENST00000393721,;ARHGAP4,downstream_gene_variant,,ENST00000418750,;ARHGAP4,downstream_gene_variant,,ENST00000422091,;ARHGAP4,downstream_gene_variant,,ENST00000442262,;ARHGAP4,downstream_gene_variant,,ENST00000488269,;ARHGAP4,downstream_gene_variant,,ENST00000470979,;ARHGAP4,missense_variant,p.His340Pro,ENST00000420383,;ARHGAP4,3_prime_UTR_variant,,ENST00000404127,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000470209,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494813,;ARHGAP4,intron_variant,,ENST00000494302,;ARHGAP4,downstream_gene_variant,,ENST00000460782,;ARHGAP4,upstream_gene_variant,,ENST00000463905,; G ENSG00000089820 ENST00000370028 Transcript missense_variant 1197/3372 1139/2961 380/986 H/P cAt/cCt 1 -1 ARHGAP4 HGNC HGNC:674 protein_coding YES CCDS55540.1 ENSP00000359045 P98171 UPI000019275E NM_001164741.1 deleterious(0) probably_damaging(0.968) 8/23 hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF16,Superfamily_domains:SSF103657 MODERATE 1 SNV 1 PASS ATG . . 153918845 SPEN . GRCh38 chr1 15935976 15935976 + Missense_Mutation SNP A A C rs769360962 7316-893 BS_K44TMQ9G A A c.9736A>C p.Thr3246Pro p.T3246P ENST00000375759 11/15 42 32 7 21 21 0 SPEN,missense_variant,p.Thr3246Pro,ENST00000375759,NM_015001.2;SPEN,upstream_gene_variant,,ENST00000487496,; C ENSG00000065526 ENST00000375759 Transcript missense_variant 9940/12232 9736/10995 3246/3664 T/P Acc/Ccc rs769360962,COSM4142939 1 1 SPEN HGNC HGNC:17575 protein_coding YES CCDS164.1 ENSP00000364912 Q96T58 UPI000006FF0C NM_015001.2 tolerated(0.25) benign(0) 11/15 hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF48,mobidb-lite,Low_complexity_(Seg):seg benign 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAC . . 0.05216 0.04359 0.01727 0.01483 0.02934 0.1426 0.07687 0.02243 0.01768 15935976 ZNF717 . GRCh38 chr3 75738643 75738643 + Missense_Mutation SNP A A G rs75467043 7316-893 BS_K44TMQ9G A A c.830T>C p.Ile277Thr p.I277T ENST00000478296 4/4 88 69 16 53 50 1 ZNF717,missense_variant,p.Ile277Thr,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; G ENSG00000227124 ENST00000478296 Transcript missense_variant 1107/3875 830/2595 277/864 I/T aTt/aCt rs75467043,COSM4594404,COSM4594403 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS AAT . . 0.006236 0.004339 0.01056 0.002688 0.006369 0.000977 0.006241 0.01005 0.007068 75738643 ZNF717 . GRCh38 chr3 75741297 75741297 + Missense_Mutation SNP T T C rs141704469 7316-893 BS_K44TMQ9G T T c.106A>G p.Thr36Ala p.T36A ENST00000478296 3/4 90 69 16 39 39 0 ZNF717,missense_variant,p.Thr36Ala,ENST00000478296,NM_001290209.1;ZNF717,missense_variant,p.Thr86Ala,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,missense_variant,p.Thr86Ala,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,missense_variant,p.Thr36Ala,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,non_coding_transcript_exon_variant,,ENST00000491507,; C ENSG00000227124 ENST00000478296 Transcript missense_variant 383/3875 106/2595 36/864 T/A Acc/Gcc rs141704469,COSM4592083,COSM1328068 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(0.59) benign(0) 3/4 PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GTT . . 0.09016 0.04307 0.03275 0.1466 0.001603 0.03335 0.1272 0.1009 0.1269 75741297 PRDM13 . GRCh38 chr6 99613749 99613751 + In_Frame_Del DEL CCG CCG - rs752474138 7316-893 BS_K44TMQ9G CCG CCG c.1131_1133del p.Pro378del p.P378del ENST00000369215 4/4 63 44 6 41 35 0 PRDM13,inframe_deletion,p.Pro378del,ENST00000369215,NM_021620.3;PRDM13,3_prime_UTR_variant,,ENST00000369214,;,regulatory_region_variant,,ENSR00000200237,; - ENSG00000112238 ENST00000369215 Transcript inframe_deletion 1419-1421/2429 1114-1116/2124 372/707 P/- CCG/- rs752474138,TMP_ESP_6_100061625_100061627,COSM6458578,COSM6458577 1 1 PRDM13 HGNC HGNC:13998 protein_coding YES CCDS43487.1 ENSP00000358217 Q9H4Q3 UPI000047099D NM_021620.3 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44990,Gene3D:3.30.160.60 0.01676 0.02747 0,0,1,1 MODERATE 1 deletion 1 17 0,0,1,1 PASS ACCCGC . . 0.01784 0.007264 0.02587 0.008581 0.05287 0.01237 0.0154 0.02123 0.013 99613748 GTPBP4 . GRCh38 chr10 1005891 1005891 + Missense_Mutation SNP T T C rs757660597 7316-893 BS_K44TMQ9G T T c.986T>C p.Ile329Thr p.I329T ENST00000360803 9/17 70 53 15 46 46 0 GTPBP4,missense_variant,p.Ile329Thr,ENST00000360803,NM_012341.2;GTPBP4,non_coding_transcript_exon_variant,,ENST00000491635,;GTPBP4,non_coding_transcript_exon_variant,,ENST00000491261,; C ENSG00000107937 ENST00000360803 Transcript missense_variant 1447/5075 986/1905 329/634 I/T aTt/aCt rs757660597 1 1 GTPBP4 HGNC HGNC:21535 protein_coding YES CCDS31132.1 ENSP00000354040 Q9BZE4 D2CFK9 UPI000000D960 NM_012341.2 tolerated(0.16) benign(0.001) 9/17 Gene3D:3.40.50.300,PIRSF_domain:PIRSF038919,PROSITE_profiles:PS51710,hmmpanther:PTHR11702,hmmpanther:PTHR11702:SF4,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231,cd01897 MODERATE 1 SNV 1 PASS ATT . . 1.295e-05 0.0001333 9.375e-06 1005891 KRAS . GRCh38 chr12 25227343 25227343 + Missense_Mutation SNP G G T rs121913238 7316-893 BS_K44TMQ9G G G c.181C>A p.Gln61Lys p.Q61K ENST00000256078 3/6 67 48 19 40 40 0 KRAS,missense_variant,p.Gln61Lys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gln61Lys,ENST00000256078,NM_033360.3;KRAS,intron_variant,,ENST00000557334,;AC092794.2,downstream_gene_variant,,ENST00000620933,; T ENSG00000133703 ENST00000256078 Transcript missense_variant 245/1119 181/570 61/189 Q/K Caa/Aaa rs121913238,COSM550,COSM549,COSM1159597 1 -1 KRAS HGNC HGNC:6407 protein_coding YES CCDS8703.1 ENSP00000256078 P01116 L7RSL8 UPI0000133132 NM_033360.3 deleterious(0.01) benign(0.083) 3/6 PROSITE_profiles:PS51421,cd04138,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.30.70.1390,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449 likely_pathogenic,pathogenic 1,1,1,1 24033266,19047918 MODERATE 1 SNV 1 1,1,1,1 1 PASS TGA . . 25227343 ELMSAN1 . GRCh38 chr14 73739223 73739225 + In_Frame_Del DEL CTG CTG - rs770490388 7316-893 BS_K44TMQ9G CTG CTG c.784_786del p.Gln262del p.Q262del ENST00000286523 2/12 66 53 5 33 30 0 ELMSAN1,inframe_deletion,p.Gln262del,ENST00000286523,NM_194278.3;ELMSAN1,inframe_deletion,p.Gln262del,ENST00000394071,NM_001043318.2;ELMSAN1,inframe_deletion,p.Gln262del,ENST00000435371,;ELMSAN1,inframe_deletion,p.Gln262del,ENST00000423556,;ELMSAN1,downstream_gene_variant,,ENST00000421708,;ELMSAN1,downstream_gene_variant,,ENST00000486739,;ELMSAN1,inframe_deletion,p.Gln84del,ENST00000451078,; - ENSG00000156030 ENST00000286523 Transcript inframe_deletion 1567-1569/8091 784-786/3138 262/1045 Q/- CAG/- rs770490388,COSM4747478 1 -1 ELMSAN1 HGNC HGNC:19853 protein_coding YES CCDS9819.1 ENSP00000286523 Q6PJG2 A0A024R689 UPI00001FD815 NM_194278.3 2/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF24,Gene3D:1.10.565.10 0,1 MODERATE 1 deletion 1 0,1 PASS GCCTGC . . 0.005952 0.005299 0.004128 0.004881 0.004473 0.00777 0.006736 0.004876 0.005428 73739222 AC243725.1 . GRCh38 chr17 21783377 21783377 + Splice_Site SNP C C T rs1359196456 7316-893 BS_K44TMQ9G C C n.88+1G>A ENST00000637164 71 56 15 40 40 0 AC243725.1,splice_donor_variant,,ENST00000637164,; T ENSG00000283566 ENST00000637164 Transcript splice_donor_variant,non_coding_transcript_variant rs1359196456 1 -1 AC243725.1 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/4 HIGH 1 SNV PASS ACG . . 21783377 KRTAP4-7 . GRCh38 chr17 41084543 41084543 + Missense_Mutation SNP A A T rs9894966 7316-893 BS_K44TMQ9G A A c.337A>T p.Ser113Cys p.S113C ENST00000391417 1/1 59 49 7 32 32 0 KRTAP4-7,missense_variant,p.Ser113Cys,ENST00000391417,NM_033061.3;KRTAP4-7,missense_variant,p.Ser113Cys,ENST00000621138,;,regulatory_region_variant,,ENSR00000094192,; T ENSG00000240871 ENST00000391417 Transcript missense_variant 394/992 337/468 113/155 S/C Agc/Tgc rs9894966,COSM1128717 1 1 KRTAP4-7 HGNC HGNC:18898 protein_coding YES CCDS45673.1 ENSP00000375236 Q9BYR0 UPI00001B0238 NM_033061.3 deleterious(0.04) benign(0.005) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF137,Pfam_domain:PF13885 0,1 MODERATE 1 SNV 0,1 PASS CAG . . 41084543 MICAL3 . GRCh38 chr22 17832059 17832061 + In_Frame_Del DEL CTC CTC - rs759042299 7316-893 BS_K44TMQ9G CTC CTC c.2848_2850del p.Glu950del p.E950del ENST00000441493 21/32 76 64 6 41 39 0 MICAL3,inframe_deletion,p.Glu950del,ENST00000441493,NM_015241.2;MICAL3,downstream_gene_variant,,ENST00000400561,NM_001122731.2;MICAL3,upstream_gene_variant,,ENST00000498573,;MICAL3,upstream_gene_variant,,ENST00000578984,;,regulatory_region_variant,,ENSR00000143585,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; - ENSG00000243156 ENST00000441493 Transcript inframe_deletion 3201-3203/9445 2848-2850/6009 950/2002 E/- GAG/- rs759042299,COSM1031902 1 -1 MICAL3 HGNC HGNC:24694 protein_coding YES CCDS46659.1 ENSP00000416015 Q7RTP6 UPI0001823FDE NM_015241.2 21/32 Gene3D:2.10.110.10,hmmpanther:PTHR44265,hmmpanther:PTHR44265:SF1,mobidb-lite,Low_complexity_(Seg):seg 0.03099 0.0388 0,1 MODERATE 1 deletion 5 0,1 PASS GGCTCC . . 0.00177 0.002274 0.001123 0.0005747 0.00132 0.001822 0.002349 0.001075 0.001019 17832058 KLF18 . GRCh38 chr1 44140026 44140026 + Missense_Mutation SNP T T C rs1351087117 7316-347 BS_F0WR427W T T c.1606A>G p.Thr536Ala p.T536A ENST00000634670 1/2 58 46 8 29 27 0 KLF18,missense_variant,p.Thr536Ala,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; C ENSG00000283039 ENST00000634670 Transcript missense_variant 1606/3159 1606/3159 536/1052 T/A Act/Gct rs1351087117 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.2) benign(0.398) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GTA . . 44140026 WARS2 . GRCh38 chr1 119076432 119076432 + Missense_Mutation SNP C C A novel 7316-347 BS_F0WR427W C C c.266G>T p.Arg89Leu p.R89L ENST00000235521 2/6 71 65 5 35 34 0 WARS2,missense_variant,p.Arg89Leu,ENST00000369426,NM_201263.2;WARS2,missense_variant,p.Arg89Leu,ENST00000235521,NM_015836.3;WARS2,non_coding_transcript_exon_variant,,ENST00000497402,;WARS2,non_coding_transcript_exon_variant,,ENST00000495746,; A ENSG00000116874 ENST00000235521 Transcript missense_variant 293/2800 266/1083 89/360 R/L cGg/cTg 1 -1 WARS2 HGNC HGNC:12730 protein_coding YES CCDS900.1 ENSP00000235521 Q9UGM6 UPI000004A002 NM_015836.3 deleterious(0.03) possibly_damaging(0.495) 2/6 HAMAP:MF_00140_B,cd00806,hmmpanther:PTHR43766,Pfam_domain:PF00579,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00233,Superfamily_domains:SSF52374 MODERATE 1 SNV 1 1 PASS CCG . . 119076432 ZNF697 . GRCh38 chr1 119622886 119622886 + Missense_Mutation SNP G G A 7316-347 BS_F0WR427W G G c.1457C>T p.Thr486Met p.T486M ENST00000421812 3/3 100 87 11 42 41 0 ZNF697,missense_variant,p.Thr486Met,ENST00000421812,NM_001080470.1; A ENSG00000143067 ENST00000421812 Transcript missense_variant 1577/5041 1457/1638 486/545 T/M aCg/aTg COSM6213598,COSM6213597 1 -1 ZNF697 HGNC HGNC:32034 protein_coding YES CCDS44202.1 ENSP00000396857 Q5TEC3 UPI0000DD78D7 NM_001080470.1 deleterious(0.02) probably_damaging(0.972) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44153,hmmpanther:PTHR44153:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 3 1,1 PASS CGT . . 119622886 IGFN1 . GRCh38 chr1 201211287 201211287 + Missense_Mutation SNP A A G rs34808481 7316-347 BS_F0WR427W A A c.6394A>G p.Thr2132Ala p.T2132A ENST00000335211 12/24 73 57 13 25 22 0 IGFN1,missense_variant,p.Thr2132Ala,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6524/11810 6394/11127 2132/3708 T/A Aca/Gca rs34808481,COSM6238549 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.46) benign(0.003) 12/24 mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS TAC . . 2.943e-05 0.0002581 4.395e-05 201211287 IGFN1 . GRCh38 chr1 201211288 201211288 + Missense_Mutation SNP C C G rs772668807 7316-347 BS_F0WR427W C C c.6395C>G p.Thr2132Arg p.T2132R ENST00000335211 12/24 74 57 6 25 22 0 IGFN1,missense_variant,p.Thr2132Arg,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6525/11810 6395/11127 2132/3708 T/R aCa/aGa rs772668807,COSM6336383 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.21) benign(0.364) 12/24 mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS ACA . . 1.015e-05 2.267e-05 201211288 DEGS1 . GRCh38 chr1 224189804 224189817 + Frame_Shift_Del DEL TGGAATCGCTGGTT TGGAATCGCTGGTT - novel 7316-347 BS_F0WR427W TGGAATCGCTGGTT TGGAATCGCTGGTT c.316_329del p.Arg106ValfsTer3 p.R106Vfs*3 ENST00000323699 2/3 80 45 29 49 49 0 DEGS1,frameshift_variant,p.Arg106ValfsTer3,ENST00000323699,NM_001321542.1,NM_001321541.1,NM_003676.3;DEGS1,frameshift_variant,p.Arg106ValfsTer3,ENST00000391877,;DEGS1,frameshift_variant,p.Arg85ValfsTer3,ENST00000415210,;DEGS1,non_coding_transcript_exon_variant,,ENST00000465848,;DEGS1,upstream_gene_variant,,ENST00000498813,; - ENSG00000143753 ENST00000323699 Transcript frameshift_variant 476-489/2101 310-323/972 104-108/323 WNRWF/X TGGAATCGCTGGTTt/t 1 1 DEGS1 HGNC HGNC:13709 protein_coding YES CCDS1540.1 ENSP00000316476 O15121 A0A024R3P1 UPI000007137B NM_001321542.1,NM_001321541.1,NM_003676.3 2/3 Transmembrane_helices:TMhelix,cd03508,hmmpanther:PTHR12879,hmmpanther:PTHR12879:SF2,PIRSF_domain:PIRSF017228,Pfam_domain:PF00487 HIGH 1 deletion 1 6 PASS TGTGGAATCGCTGGTTT . . 224189803 NT5C1B . GRCh38 chr2 18584603 18584605 + In_Frame_Del DEL GCT GCT - rs145060005 7316-347 BS_F0WR427W GCT GCT c.812_814del p.Gln271del p.Q271del ENST00000359846 5/10 70 60 5 26 25 0 NT5C1B,inframe_deletion,p.Gln211del,ENST00000304081,NM_033253.3;NT5C1B,inframe_deletion,p.Gln271del,ENST00000359846,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001002006.2;NT5C1B-RDH14,inframe_deletion,p.Gln271del,ENST00000532967,NM_001199104.1;NT5C1B-RDH14,inframe_deletion,p.Gln213del,ENST00000444297,NM_001199103.1;NT5C1B,downstream_gene_variant,,ENST00000416783,;NT5C1B,upstream_gene_variant,,ENST00000418427,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,inframe_deletion,p.Ser189del,ENST00000406971,;NT5C1B,non_coding_transcript_exon_variant,,ENST00000490687,;,regulatory_region_variant,,ENSR00000289963,; - ENSG00000185013 ENST00000359846 Transcript inframe_deletion 890-892/2475 812-814/1833 271-272/610 QR/R cAGCgg/cgg rs145060005 1 -1 NT5C1B HGNC HGNC:17818 protein_coding YES CCDS33150.1 ENSP00000352904 Q96P26 A0A140VJC7 UPI000035B1B0 NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001002006.2 5/10 hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 deletion 1 PASS CCGCTG . . 0.0006174 0.00118 0.0003796 0.0007546 0.0005016 0.0006946 0.0006055 0.0009909 0.0005549 18584602 HNRNPA3 . GRCh38 chr2 177217830 177217830 + Missense_Mutation SNP G G A novel 7316-347 BS_F0WR427W G G c.946G>A p.Gly316Arg p.G316R ENST00000392524 8/11 97 46 49 45 42 0 HNRNPA3,missense_variant,p.Gly294Arg,ENST00000411529,NM_001330247.1;HNRNPA3,missense_variant,p.Gly316Arg,ENST00000392524,NM_194247.2;HNRNPA3,missense_variant,p.Gly316Arg,ENST00000435711,;HNRNPA3,intron_variant,,ENST00000432457,;HNRNPA3,upstream_gene_variant,,ENST00000483137,; A ENSG00000170144 ENST00000392524 Transcript missense_variant 1183/2067 946/1137 316/378 G/R Gga/Aga 1 1 HNRNPA3 HGNC HGNC:24941 protein_coding YES CCDS2273.1 ENSP00000376309 P51991 UPI00001BE8DE NM_194247.2 deleterious(0.05) possibly_damaging(0.887) 8/11 hmmpanther:PTHR43921,hmmpanther:PTHR43921:SF3,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AGG . . 177217830 C2CD6 . GRCh38 chr2 201618907 201618907 + Missense_Mutation SNP A A T novel 7316-347 BS_F0WR427W A A c.224T>A p.Leu75Gln p.L75Q ENST00000439140 1/16 64 56 6 25 25 0 C2CD6,missense_variant,p.Leu75Gln,ENST00000439140,NM_001168221.1;C2CD6,missense_variant,p.Leu75Gln,ENST00000450242,NM_001168217.1;C2CD6,missense_variant,p.Leu75Gln,ENST00000286195,NM_152525.5;C2CD6,missense_variant,p.Leu75Gln,ENST00000439802,NM_001168216.1;TMEM237,downstream_gene_variant,,ENST00000409444,NM_152388.3;TMEM237,downstream_gene_variant,,ENST00000409883,NM_001044385.2;TMEM237,downstream_gene_variant,,ENST00000621467,;TMEM237,downstream_gene_variant,,ENST00000471318,;TMEM237,downstream_gene_variant,,ENST00000286196,;TMEM237,downstream_gene_variant,,ENST00000495329,;ENO1P4,downstream_gene_variant,,ENST00000416471,; T ENSG00000155754 ENST00000439140 Transcript missense_variant 269/5512 224/5463 75/1820 L/Q cTg/cAg 1 -1 C2CD6 HGNC HGNC:14438 protein_coding YES CCDS54430.1 ENSP00000409937 Q53TS8 UPI000198C657 NM_001168221.1 deleterious(0.01) possibly_damaging(0.486) 1/16 hmmpanther:PTHR21665 MODERATE 1 SNV 1 PASS CAG . . 201618907 RFTN1 . GRCh38 chr3 16377853 16377853 + Missense_Mutation SNP C C T rs200471259 7316-347 BS_F0WR427W C C c.691G>A p.Val231Met p.V231M ENST00000334133 5/10 76 38 38 25 25 0 RFTN1,missense_variant,p.Val231Met,ENST00000334133,NM_015150.1;RFTN1,missense_variant,p.Val195Met,ENST00000432519,;RFTN1,missense_variant,p.Val231Met,ENST00000451036,;RFTN1,downstream_gene_variant,,ENST00000441460,;RFTN1,downstream_gene_variant,,ENST00000449415,;RFTN1,downstream_gene_variant,,ENST00000470458,;RFTN1,downstream_gene_variant,,ENST00000484752,;RFTN1,downstream_gene_variant,,ENST00000495666,;,regulatory_region_variant,,ENSR00000149223,; T ENSG00000131378 ENST00000334133 Transcript missense_variant 964/2982 691/1737 231/578 V/M Gtg/Atg rs200471259 1 -1 RFTN1 HGNC HGNC:30278 protein_coding YES CCDS33712.1 ENSP00000334153 Q14699 UPI00001C1DE7 NM_015150.1 tolerated(0.14) benign(0.009) 5/10 Pfam_domain:PF15250,hmmpanther:PTHR17601,hmmpanther:PTHR17601:SF3,mobidb-lite MODERATE 1 SNV 1 PASS ACC . . 6.499e-05 0.0002085 6.268e-05 0.0001823 3.249e-05 16377853 ZCCHC9 . GRCh38 chr5 81308666 81308666 + Missense_Mutation SNP G G C novel 7316-347 BS_F0WR427W G G c.490G>C p.Glu164Gln p.E164Q ENST00000254037 2/5 58 30 27 29 29 0 ZCCHC9,missense_variant,p.Glu164Gln,ENST00000254037,;ZCCHC9,missense_variant,p.Glu164Gln,ENST00000407610,NM_001131035.1;ZCCHC9,missense_variant,p.Glu164Gln,ENST00000380199,NM_001131036.1,NM_032280.2;ZCCHC9,missense_variant,p.Glu164Gln,ENST00000438268,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000506458,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000507402,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000505860,;ZCCHC9,non_coding_transcript_exon_variant,,ENST00000504502,;ZCCHC9,upstream_gene_variant,,ENST00000510227,; C ENSG00000131732 ENST00000254037 Transcript missense_variant 3645/4606 490/816 164/271 E/Q Gag/Cag 1 1 ZCCHC9 HGNC HGNC:25424 protein_coding YES CCDS4054.1 ENSP00000254037 Q8N567 A0A024RAL5 UPI0000072279 deleterious(0) probably_damaging(0.995) 2/5 hmmpanther:PTHR23002,hmmpanther:PTHR23002:SF48,Gene3D:4.10.60.10,SMART_domains:SM00343,Superfamily_domains:SSF57756 MODERATE 1 SNV 2 PASS AGA . . 81308666 EYS . GRCh38 chr6 64591416 64591416 + Nonsense_Mutation SNP C C T rs1239854361 7316-347 BS_F0WR427W C C c.4451G>A p.Trp1484Ter p.W1484* ENST00000370621 26/44 62 55 6 32 32 0 EYS,stop_gained,p.Trp1484Ter,ENST00000503581,NM_001142800.1;EYS,stop_gained,p.Trp1484Ter,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000330816,; T ENSG00000188107 ENST00000370621 Transcript stop_gained 4978/10485 4451/9498 1484/3165 W/* tGg/tAg rs1239854361,CM107716 1 -1 EYS HGNC HGNC:21555 protein_coding YES CCDS78156.1 ENSP00000359655 Q5T1H1 UPI0001AE72B3 NM_001292009.1 26/44 HIGH 1 SNV 1 0,1 1 PASS CCA . . 4.041e-05 0.0002505 64591416 TBX20 . GRCh38 chr7 35248847 35248848 + Splice_Region DEL AG AG - rs147314121 7316-347 BS_F0WR427W AG AG c.381-7_381-6del ENST00000408931 81 65 8 24 22 0 TBX20,splice_region_variant,,ENST00000408931,NM_001166220.1,NM_001077653.2;TBX20,splice_region_variant,,ENST00000492961,; - ENSG00000164532 ENST00000408931 Transcript splice_region_variant,intron_variant rs147314121,COSM1724340,COSM1724339 1 -1 TBX20 HGNC HGNC:11598 protein_coding YES CCDS43568.1 ENSP00000386170 Q9UMR3 UPI00004B23D3 NM_001166220.1,NM_001077653.2 2/7 0,1,1 LOW 1 deletion 1 0,1,1 1 PASS ACAGA . . 0.009887 0.007387 0.008008 0.008081 0.005707 0.005299 0.01249 0.01097 0.009587 35248846 ZNF92 . GRCh38 chr7 65399230 65399230 + Missense_Mutation SNP T T A rs200450265 7316-347 BS_F0WR427W T T c.1116T>A p.Asp372Glu p.D372E ENST00000328747 4/4 82 66 12 27 25 0 ZNF92,missense_variant,p.Asp372Glu,ENST00000328747,NM_152626.3;ZNF92,missense_variant,p.Asp340Glu,ENST00000357512,NM_001287532.1;ZNF92,missense_variant,p.Asp303Glu,ENST00000450302,NM_007139.3;ZNF92,missense_variant,p.Asp296Glu,ENST00000431504,NM_001287534.1,NM_001287533.1;,regulatory_region_variant,,ENSR00000212862,; A ENSG00000146757 ENST00000328747 Transcript missense_variant 1315/3210 1116/1761 372/586 D/E gaT/gaA rs200450265,COSM351636 1 1 ZNF92 HGNC HGNC:13168 protein_coding YES CCDS34646.1 ENSP00000332595 Q03936 V9HVY7 UPI0000073CE6 NM_152626.3 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 8.418e-06 3.156e-05 9.163e-06 65399230 MUC17 . GRCh38 chr7 101041663 101041663 + Missense_Mutation SNP T T C rs878891348 7316-347 BS_F0WR427W T T c.10247T>C p.Val3416Ala p.V3416A ENST00000306151 3/13 107 88 14 38 37 1 MUC17,missense_variant,p.Val3416Ala,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Val3416Ala,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 10311/14247 10247/13482 3416/4493 V/A gTt/gCt rs878891348,COSM6292972 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.063) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS GTT . . 2.148e-05 6.664e-05 0.0001333 3.479e-05 101041663 ZNF786 . GRCh38 chr7 149070706 149070706 + Missense_Mutation SNP G G C rs1276661986 7316-347 BS_F0WR427W G G c.2066C>G p.Ala689Gly p.A689G ENST00000491431 4/4 114 102 10 30 30 0 ZNF786,missense_variant,p.Ala603Gly,ENST00000316286,;ZNF786,missense_variant,p.Ala689Gly,ENST00000491431,NM_152411.3; C ENSG00000197362 ENST00000491431 Transcript missense_variant 2131/2874 2066/2349 689/782 A/G gCg/gGg rs1276661986 1 -1 ZNF786 HGNC HGNC:21806 protein_coding YES CCDS47738.1 ENSP00000417470 Q8N393 UPI000013FD40 NM_152411.3 tolerated(0.29) benign(0.059) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376:SF89,hmmpanther:PTHR24376,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CGC . . 149070706 SLC35G5 . GRCh38 chr8 11332020 11332020 + Missense_Mutation SNP T T C rs62488716 7316-347 BS_F0WR427W T T c.914T>C p.Val305Ala p.V305A ENST00000382435 1/1 63 49 9 35 34 0 SLC35G5,missense_variant,p.Val305Ala,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; C ENSG00000177710 ENST00000382435 Transcript missense_variant 1133/1321 914/1017 305/338 V/A gTg/gCg rs62488716,COSM4593558 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.35) possibly_damaging(0.484) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481 0,1 MODERATE SNV 0,1 PASS GTG . . 0.001862 0.0001339 0.0009706 0.0006698 0.004659 0.003283 0.001965 0.001793 0.001478 11332020 SLC35G5 . GRCh38 chr8 11332082 11332082 + Missense_Mutation SNP C C T rs62488717 7316-347 BS_F0WR427W C C c.976C>T p.Arg326Trp p.R326W ENST00000382435 1/1 64 52 9 42 40 0 SLC35G5,missense_variant,p.Arg326Trp,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; T ENSG00000177710 ENST00000382435 Transcript missense_variant 1195/1321 976/1017 326/338 R/W Cgg/Tgg rs62488717,COSM3718698 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.17) benign(0) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 MODERATE SNV 0,1 PASS CCG . . 0.2934 0.1711 0.2975 0.3221 0.2793 0.3895 0.2956 0.2607 0.2856 11332082 RB1CC1 . GRCh38 chr8 52630531 52630531 + Splice_Region DEL A A - rs770160515 7316-347 BS_F0WR427W A A c.4441-3del ENST00000025008 50 35 9 33 28 0 RB1CC1,splice_region_variant,,ENST00000025008,NM_014781.4;RB1CC1,splice_region_variant,,ENST00000435644,NM_001083617.1;RB1CC1,splice_region_variant,,ENST00000519912,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,splice_region_variant,,ENST00000522957,; - ENSG00000023287 ENST00000025008 Transcript splice_region_variant,intron_variant rs770160515,COSM1624063 1 -1 RB1CC1 HGNC HGNC:15574 protein_coding YES CCDS34892.1 ENSP00000025008 Q8TDY2 UPI0000DBEF23 NM_014781.4 20/23 0,1 LOW 1 deletion 1 0,1 1 PASS CTAA . . 0.3331 0.3348 0.3453 0.3548 0.3244 0.3183 0.3222 0.3396 0.3668 52630530 ACO1 . GRCh38 chr9 32440555 32440555 + Nonsense_Mutation SNP C C T rs545955861 7316-347 BS_F0WR427W C C c.2338C>T p.Arg780Ter p.R780* ENST00000309951 19/21 86 40 46 41 41 0 ACO1,stop_gained,p.Arg780Ter,ENST00000309951,NM_002197.2;ACO1,stop_gained,p.Arg780Ter,ENST00000541043,NM_001278352.1;ACO1,stop_gained,p.Arg780Ter,ENST00000379923,; T ENSG00000122729 ENST00000309951 Transcript stop_gained 2476/7466 2338/2670 780/889 R/* Cga/Tga rs545955861,COSM5619680,COSM5619681 1 1 ACO1 HGNC HGNC:117 protein_coding YES CCDS6525.1 ENSP00000309477 P21399 V9HWB7 UPI000012D87E NM_002197.2 19/21 PDB-ENSP_mappings:2b3x.A,PDB-ENSP_mappings:2b3y.A,PDB-ENSP_mappings:2b3y.B,cd01580,hmmpanther:PTHR11670:SF32,hmmpanther:PTHR11670,Pfam_domain:PF00694,Gene3D:3.20.19.10,TIGRFAM_domain:TIGR01341,Superfamily_domains:SSF52016 0.0004 0.002 0,1,1 HIGH 1 SNV 1 0,1,1 PASS CCG . . 1.626e-05 4.488e-05 1.793e-05 3.249e-05 32440555 TAF1L . GRCh38 chr9 32631826 32631826 + Missense_Mutation SNP G G A 7316-347 BS_F0WR427W G G c.3754C>T p.Arg1252Trp p.R1252W ENST00000242310 1/1 77 37 39 29 28 0 TAF1L,missense_variant,p.Arg1252Trp,ENST00000242310,NM_153809.2;AL589642.1,upstream_gene_variant,,ENST00000430787,; A ENSG00000122728 ENST00000242310 Transcript missense_variant 3844/6216 3754/5481 1252/1826 R/W Cgg/Tgg COSM164777 1 -1 TAF1L HGNC HGNC:18056 protein_coding YES CCDS35003.1 ENSP00000418379 Q8IZX4 UPI000007408A NM_153809.2 deleterious(0) probably_damaging(1) 1/1 Gene3D:1.20.920.10,Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE SNV 1 PASS CGC . . 32631826 AHNAK . GRCh38 chr11 62523775 62523775 + Missense_Mutation SNP T T A rs1335647135 7316-347 BS_F0WR427W T T c.10642A>T p.Ile3548Phe p.I3548F ENST00000378024 5/5 119 110 7 38 37 0 AHNAK,missense_variant,p.Ile3548Phe,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 10917/18787 10642/17673 3548/5890 I/F Att/Ttt rs1335647135,COSM4783357,COSM1355352 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.18) benign(0.232) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS ATG . . 62523775 DDX10 . GRCh38 chr11 108917908 108917910 + In_Frame_Del DEL TGA TGA - rs756833840 7316-347 BS_F0WR427W TGA TGA c.2363_2365del p.Asp788del p.D788del ENST00000322536 17/18 76 63 8 33 31 0 DDX10,inframe_deletion,p.Asp788del,ENST00000526794,;DDX10,inframe_deletion,p.Asp788del,ENST00000322536,NM_004398.3;DDX10,non_coding_transcript_exon_variant,,ENST00000524979,;DDX10,non_coding_transcript_exon_variant,,ENST00000530116,; - ENSG00000178105 ENST00000322536 Transcript inframe_deletion 2469-2471/3264 2340-2342/2628 780-781/875 SD/S agTGAt/agt rs756833840,TMP_ESP_11_108788635_108788637,COSM1721800 1 1 DDX10 HGNC HGNC:2735 protein_coding YES CCDS8342.1 ENSP00000314348 Q13206 UPI0000140E62 NM_004398.3 17/18 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF54,Gene3D:3.40.50.300 0.01806 0.01878 0,0,1 MODERATE 1 deletion 1 23 0,0,1 1 PASS AGTGAT . . 0.0006143 0.0003424 0.0004176 0.0001086 0.00043 0.0001441 0.000663 0.0005859 0.001407 108917907 VWF . GRCh38 chr12 6019394 6019394 + Missense_Mutation SNP G G A rs61749404 7316-347 BS_F0WR427W G G c.4024C>T p.Arg1342Cys p.R1342C ENST00000261405 28/52 119 69 47 34 34 0 VWF,missense_variant,p.Arg1342Cys,ENST00000261405,NM_000552.4;VWF,intron_variant,,ENST00000538635,;VWF,downstream_gene_variant,,ENST00000539641,; A ENSG00000110799 ENST00000261405 Transcript missense_variant 4279/8838 4024/8442 1342/2813 R/C Cgc/Tgc rs61749404,CM070341 1 -1 VWF HGNC HGNC:12726 protein_coding YES CCDS8539.1 ENSP00000261405 P04275 UPI00001AE7EE NM_000552.4 deleterious(0) probably_damaging(0.998) 28/52 Gene3D:3.40.50.410,Pfam_domain:PF00092,PIRSF_domain:PIRSF002495,PROSITE_profiles:PS50234,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF361,SMART_domains:SM00327,Superfamily_domains:SSF53300,cd01450 0.0004 0.0015 0.0009079 not_provided MODERATE 1 SNV 1 0,1 1 PASS CGC . . 0.0001018 0.0007865 0.0002085 0.000116 9.004e-06 9.746e-05 6019394 COPZ1 . GRCh38 chr12 54345485 54345485 + Missense_Mutation SNP G G T 7316-347 BS_F0WR427W G G c.311G>T p.Cys104Phe p.C104F ENST00000549043 5/9 95 45 50 33 33 0 COPZ1,missense_variant,p.Cys96Phe,ENST00000262061,NM_016057.2;COPZ1,missense_variant,p.Cys96Phe,ENST00000551779,;COPZ1,missense_variant,p.Cys104Phe,ENST00000549043,NM_001271736.1;COPZ1,missense_variant,p.Cys73Phe,ENST00000455864,NM_001271734.1;COPZ1,missense_variant,p.Cys96Phe,ENST00000552218,;COPZ1,missense_variant,p.Cys8Phe,ENST00000548753,;COPZ1,missense_variant,p.Cys38Phe,ENST00000549116,;COPZ1,missense_variant,p.Cys96Phe,ENST00000552362,NM_001271735.1;COPZ1,missense_variant,p.Cys73Phe,ENST00000553231,;COPZ1,missense_variant,p.Cys104Phe,ENST00000550713,;COPZ1,downstream_gene_variant,,ENST00000552848,;AC078778.2,downstream_gene_variant,,ENST00000553061,;RN7SL744P,downstream_gene_variant,,ENST00000577604,;COPZ1,non_coding_transcript_exon_variant,,ENST00000548281,;COPZ1,downstream_gene_variant,,ENST00000548076,;COPZ1,synonymous_variant,p.Leu65=,ENST00000550171,;COPZ1,non_coding_transcript_exon_variant,,ENST00000550027,;COPZ1,non_coding_transcript_exon_variant,,ENST00000551412,;COPZ1,intron_variant,,ENST00000551962,;COPZ1,downstream_gene_variant,,ENST00000553009,; T ENSG00000111481 ENST00000549043 Transcript missense_variant 406/1232 311/558 104/185 C/F tGt/tTt COSM6838306 1 1 COPZ1 HGNC HGNC:2243 protein_coding YES CCDS61139.1 ENSP00000449270 P61923 UPI00018920FB NM_001271736.1 deleterious(0) probably_damaging(0.995) 5/9 Gene3D:3.30.450.60,Pfam_domain:PF01217,hmmpanther:PTHR11043,hmmpanther:PTHR11043:SF18,Superfamily_domains:SSF64356 1 MODERATE 1 SNV 1 1 PASS TGT . . 54345485 GMFB . GRCh38 chr14 54478163 54478163 + Splice_Region SNP T T A rs1270822354 7316-347 BS_F0WR427W T T c.358-4A>T ENST00000358056 61 55 6 29 29 0 GMFB,splice_region_variant,,ENST00000358056,NM_004124.2;GMFB,splice_region_variant,,ENST00000553333,;GMFB,splice_region_variant,,ENST00000616146,;GMFB,splice_region_variant,,ENST00000628554,;GMFB,3_prime_UTR_variant,,ENST00000554908,;GMFB,downstream_gene_variant,,ENST00000553566,;GMFB,splice_region_variant,,ENST00000554163,;GMFB,splice_region_variant,,ENST00000554247,;GMFB,downstream_gene_variant,,ENST00000553952,;GMFB,downstream_gene_variant,,ENST00000554682,; A ENSG00000197045 ENST00000358056 Transcript splice_region_variant,intron_variant rs1270822354 1 -1 GMFB HGNC HGNC:4373 protein_coding YES CCDS9718.1 ENSP00000350757 P60983 UPI0000161C06 NM_004124.2 6/6 LOW 1 SNV 1 PASS TTA . . 0.003117 0.006112 0.005569 0.003214 0.005272 0.001248 0.003033 0.001305 0.002312 54478163 SEMA6D . GRCh38 chr15 47765982 47765982 + Missense_Mutation SNP G G A rs757150370 7316-347 BS_F0WR427W G G c.1541G>A p.Arg514His p.R514H ENST00000316364 14/19 86 53 31 34 34 0 SEMA6D,missense_variant,p.Arg514His,ENST00000316364,NM_153618.1,NM_001358351.1;SEMA6D,missense_variant,p.Arg514His,ENST00000558014,NM_001198999.1;SEMA6D,missense_variant,p.Arg514His,ENST00000354744,NM_153617.1;SEMA6D,missense_variant,p.Arg514His,ENST00000358066,NM_020858.1;SEMA6D,missense_variant,p.Arg514His,ENST00000355997,NM_153619.1;SEMA6D,missense_variant,p.Arg514His,ENST00000389428,NM_153616.1;SEMA6D,missense_variant,p.Arg514His,ENST00000558816,;SEMA6D,missense_variant,p.Arg514His,ENST00000536845,;SEMA6D,downstream_gene_variant,,ENST00000389425,NM_024966.2;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,non_coding_transcript_exon_variant,,ENST00000558431,; A ENSG00000137872 ENST00000316364 Transcript missense_variant 1980/6099 1541/3222 514/1073 R/H cGc/cAc rs757150370 1 1 SEMA6D HGNC HGNC:16770 protein_coding YES CCDS32225.1 ENSP00000324857 Q8NFY4 UPI000006E201 NM_153618.1,NM_001358351.1 deleterious(0.02) probably_damaging(1) 14/19 hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,Pfam_domain:PF01437,Gene3D:2.130.10.10,SMART_domains:SM00423,Superfamily_domains:SSF101912,Superfamily_domains:SSF103575 MODERATE 1 SNV 1 PASS CGC . . 1.296e-05 0.0001099 47765982 ACAN . GRCh38 chr15 88856926 88856926 + Missense_Mutation SNP G G C rs201505307 7316-347 BS_F0WR427W G G c.4341G>C p.Glu1447Asp p.E1447D ENST00000439576 12/18 95 78 15 37 34 0 ACAN,missense_variant,p.Glu1447Asp,ENST00000560601,;ACAN,missense_variant,p.Glu1447Asp,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Glu1428Asp,ENST00000617301,;ACAN,missense_variant,p.Glu1447Asp,ENST00000559004,;ACAN,missense_variant,p.Glu1447Asp,ENST00000561243,;ACAN,missense_variant,p.Glu1447Asp,ENST00000352105,NM_001135.3;,regulatory_region_variant,,ENSR00000278890,; C ENSG00000157766 ENST00000439576 Transcript missense_variant 4715/8840 4341/7593 1447/2530 E/D gaG/gaC rs201505307,COSM6382245,COSM6382244 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 tolerated(0.6) benign(0.001) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42 likely_benign 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS AGA . . 2.448e-05 6.667e-05 3.001e-05 5.811e-05 1.793e-05 3.293e-05 88856926 MKL2 . GRCh38 chr16 14210290 14210290 + Missense_Mutation SNP G G A rs760992798 7316-347 BS_F0WR427W G G c.202G>A p.Asp68Asn p.D68N ENST00000571589 4/17 71 66 5 38 38 0 MKL2,missense_variant,p.Asp68Asn,ENST00000571589,NM_001308142.1;MKL2,missense_variant,p.Asp68Asn,ENST00000318282,NM_014048.4;MKL2,missense_variant,p.Asp68Asn,ENST00000574045,;MKL2,missense_variant,p.Asp57Asn,ENST00000572567,;MKL2,missense_variant,p.Asp17Asn,ENST00000573051,;MKL2,missense_variant,p.Asp68Asn,ENST00000574998,;MKL2,non_coding_transcript_exon_variant,,ENST00000575768,; A ENSG00000186260 ENST00000571589 Transcript missense_variant 374/8799 202/3300 68/1099 D/N Gac/Aac rs760992798 1 1 MKL2 HGNC HGNC:29819 protein_coding YES CCDS76823.1 ENSP00000459626 Q9ULH7 UPI00001FEE5A NM_001308142.1 deleterious(0.01) probably_damaging(0.991) 4/17 PROSITE_profiles:PS51073,hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF5,SMART_domains:SM00707 MODERATE 1 SNV 2 PASS GGA . . 4.078e-06 0.000184 14210290 C17orf97 . GRCh38 chr17 413906 413906 + Missense_Mutation SNP T T A novel 7316-347 BS_F0WR427W T T c.1063T>A p.Phe355Ile p.F355I ENST00000360127 2/2 49 38 7 29 27 0 C17orf97,missense_variant,p.Phe355Ile,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC141424.1,intron_variant,,ENST00000466740,;AC141424.1,upstream_gene_variant,,ENST00000599026,;AC141424.1,upstream_gene_variant,,ENST00000629249,;C17orf97,upstream_gene_variant,,ENST00000629953,;C17orf97,upstream_gene_variant,,ENST00000575151,; A ENSG00000187624 ENST00000360127 Transcript missense_variant 1079/1839 1063/1272 355/423 F/I Ttc/Atc 1 1 C17orf97 HGNC HGNC:33800 protein_coding YES CCDS32519.2 ENSP00000353245 Q6ZQX7 A0A0H4IV28 UPI0001AE65CA NM_001013672.4 tolerated_low_confidence(0.35) benign(0.412) 2/2 mobidb-lite MODERATE 1 SNV 1 PASS CTT . . 413906 OR1E2 . GRCh38 chr17 3433057 3433057 + Missense_Mutation SNP C C A novel 7316-347 BS_F0WR427W C C c.785G>T p.Gly262Val p.G262V ENST00000248384 1/1 34 28 6 34 34 0 OR1E2,missense_variant,p.Gly262Val,ENST00000248384,NM_003554.2; A ENSG00000127780 ENST00000248384 Transcript missense_variant 785/972 785/972 262/323 G/V gGg/gTg 1 -1 OR1E2 HGNC HGNC:8190 protein_coding YES CCDS11026.1 ENSP00000248384 P47887 A0A126GW81 UPI0000041BBF NM_003554.2 deleterious(0) probably_damaging(0.999) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF245,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15236 MODERATE 1 SNV PASS CCC . . 3433057 KRT37 . GRCh38 chr17 41422884 41422884 + Missense_Mutation SNP C C T rs374605752 7316-347 BS_F0WR427W C C c.626G>A p.Gly209Glu p.G209E ENST00000225550 3/7 134 120 12 28 28 0 KRT37,missense_variant,p.Gly209Glu,ENST00000225550,NM_003770.4;AC003958.2,intron_variant,,ENST00000432258,; T ENSG00000108417 ENST00000225550 Transcript missense_variant 626/1475 626/1350 209/449 G/E gGg/gAg rs374605752 1 -1 KRT37 HGNC HGNC:6455 protein_coding YES CCDS32653.1 ENSP00000225550 O76014 UPI000000DC9A NM_003770.4 deleterious(0) probably_damaging(0.974) 3/7 hmmpanther:PTHR23239:SF239,hmmpanther:PTHR23239,Pfam_domain:PF00038,SMART_domains:SM01391,Prints_domain:PR01248 0.000227 MODERATE 1 SNV 1 PASS CCC . . 8.137e-06 0.0001307 41422884 AOC3 . GRCh38 chr17 42851939 42851939 + Missense_Mutation SNP G G T novel 7316-347 BS_F0WR427W G G c.596G>T p.Cys199Phe p.C199F ENST00000308423 1/4 131 85 45 33 33 0 AOC3,missense_variant,p.Cys199Phe,ENST00000308423,NM_003734.3;AOC3,missense_variant,p.Cys199Phe,ENST00000613571,NM_001277731.1;AOC2,downstream_gene_variant,,ENST00000253799,NM_009590.2;AOC2,downstream_gene_variant,,ENST00000452774,NM_001158.3;AOC3,upstream_gene_variant,,ENST00000588033,;AOC3,upstream_gene_variant,,ENST00000591562,;AOC3,upstream_gene_variant,,ENST00000592999,;AOC3,upstream_gene_variant,,ENST00000617500,NM_001277732.1;AOC3,upstream_gene_variant,,ENST00000587330,;,regulatory_region_variant,,ENSR00000094475,; T ENSG00000131471 ENST00000308423 Transcript missense_variant 756/4026 596/2292 199/763 C/F tGc/tTc 1 1 AOC3 HGNC HGNC:550 protein_coding YES CCDS11444.1 ENSP00000312326 Q16853 UPI00000009FC NM_003734.3 tolerated(0.2) benign(0.058) 1/4 Gene3D:3.10.450.40,Pfam_domain:PF02728,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF23,Superfamily_domains:SSF54416 MODERATE 1 SNV 1 PASS TGC . . 42851939 TXNDC2 . GRCh38 chr18 9887684 9887684 + Missense_Mutation SNP T T G rs553374563 7316-347 BS_F0WR427W T T c.1205T>G p.Ile402Ser p.I402S ENST00000306084 2/2 137 103 20 29 26 0 TXNDC2,missense_variant,p.Ile335Ser,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Ile387Ser,ENST00000611534,;TXNDC2,missense_variant,p.Ile402Ser,ENST00000306084,NM_001098529.1;TXNDC2,3_prime_UTR_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; G ENSG00000168454 ENST00000306084 Transcript missense_variant 1404/1873 1205/1662 402/553 I/S aTt/aGt rs553374563,COSM4414726,COSM4414725 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(0.33) benign(0.036) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ATT . . 7.109e-05 0.0001671 3.872e-05 0.000112 0.000171 7.004e-05 7.592e-05 9887684 SMARCA4 . GRCh38 chr19 10991153 10991153 + Missense_Mutation SNP C C T 7316-347 BS_F0WR427W C C c.1249C>T p.Arg417Cys p.R417C ENST00000344626 8/35 138 60 74 40 40 0 SMARCA4,missense_variant,p.Arg417Cys,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Arg417Cys,ENST00000644737,;SMARCA4,missense_variant,p.Arg417Cys,ENST00000646693,NM_001128849.1;SMARCA4,missense_variant,p.Arg417Cys,ENST00000590574,;SMARCA4,missense_variant,p.Arg417Cys,ENST00000642726,;SMARCA4,missense_variant,p.Arg417Cys,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Arg417Cys,ENST00000642628,;SMARCA4,missense_variant,p.Arg417Cys,ENST00000643549,;SMARCA4,missense_variant,p.Arg417Cys,ENST00000646510,;SMARCA4,missense_variant,p.Arg417Cys,ENST00000646484,NM_001128847.1;SMARCA4,missense_variant,p.Arg417Cys,ENST00000643296,NM_001128845.1;SMARCA4,missense_variant,p.Arg417Cys,ENST00000647230,;SMARCA4,missense_variant,p.Arg417Cys,ENST00000413806,;SMARCA4,missense_variant,p.Arg417Cys,ENST00000450717,;SMARCA4,missense_variant,p.Arg417Cys,ENST00000645460,NM_001128848.1;SMARCA4,missense_variant,p.Arg417Cys,ENST00000444061,;SMARCA4,missense_variant,p.Arg375Cys,ENST00000591545,;SMARCA4,missense_variant,p.Arg417Cys,ENST00000589677,NM_001128846.1;SMARCA4,missense_variant,p.Arg417Cys,ENST00000541122,;SMARCA4,missense_variant,p.Arg222Cys,ENST00000643995,;SMARCA4,upstream_gene_variant,,ENST00000642350,;SMARCA4,upstream_gene_variant,,ENST00000643208,;SMARCA4,upstream_gene_variant,,ENST00000644065,;SMARCA4,downstream_gene_variant,,ENST00000644760,;SMARCA4,upstream_gene_variant,,ENST00000644963,;SMARCA4,missense_variant,p.Arg9Cys,ENST00000644327,;SMARCA4,upstream_gene_variant,,ENST00000644290,;SMARCA4,upstream_gene_variant,,ENST00000645061,; T ENSG00000127616 ENST00000344626 Transcript missense_variant 1630/5791 1249/4944 417/1647 R/C Cgc/Tgc COSM6942165,COSM6942164 1 1 SMARCA4 HGNC HGNC:11100 protein_coding YES CCDS12253.1 ENSP00000343896 P51532 A7E2E1 UPI000006F973 NM_003072.3 deleterious(0) probably_damaging(0.991) 8/35 hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Low_complexity_(Seg):seg 1,1 MODERATE 1 SNV 1 1,1 1 PASS GCG . . 10991153 ZNF442 . GRCh38 chr19 12349810 12349810 + Missense_Mutation SNP T T G rs1225785005 7316-347 BS_F0WR427W T T c.1775A>C p.Lys592Thr p.K592T ENST00000242804 6/6 75 65 7 35 35 0 ZNF442,missense_variant,p.Lys592Thr,ENST00000242804,NM_030824.2;ZNF442,missense_variant,p.Lys523Thr,ENST00000438182,;ZNF442,missense_variant,p.Lys592Thr,ENST00000545749,;ZNF442,downstream_gene_variant,,ENST00000424168,;ZNF442,downstream_gene_variant,,ENST00000462995,; G ENSG00000198342 ENST00000242804 Transcript missense_variant 2358/6219 1775/1884 592/627 K/T aAa/aCa rs1225785005 1 -1 ZNF442 HGNC HGNC:20877 protein_coding YES CCDS12271.1 ENSP00000242804 Q9H7R0 UPI000006D14F NM_030824.2 deleterious(0.02) benign(0.292) 6/6 Gene3D:3.30.40.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF6,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TTT . . 12349810 ZNF626 . GRCh38 chr19 20624730 20624730 + Missense_Mutation SNP C C G 7316-347 BS_F0WR427W C C c.1147G>C p.Asp383His p.D383H ENST00000601440 4/4 68 55 6 23 20 0 ZNF626,missense_variant,p.Asp383His,ENST00000601440,NM_001076675.2;ZNF626,missense_variant,p.Asp383His,ENST00000612591,;ZNF626,downstream_gene_variant,,ENST00000595405,;AC010636.2,intron_variant,,ENST00000595094,; G ENSG00000188171 ENST00000601440 Transcript missense_variant 1294/5963 1147/1587 383/528 D/H Gac/Cac COSM5883071,COSM4280362 1 -1 ZNF626 HGNC HGNC:30461 protein_coding YES CCDS42535.1 ENSP00000469958 Q68DY1 UPI000035E843 NM_001076675.2 tolerated(0.65) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF129,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 4 1,1 PASS TCT . . 20624730 ZNF99 . GRCh38 chr19 22758477 22758477 + Missense_Mutation SNP C C G rs1487992867 7316-347 BS_F0WR427W C C c.1432G>C p.Glu478Gln p.E478Q ENST00000596209 4/4 76 65 8 25 25 0 ZNF99,missense_variant,p.Glu478Gln,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Glu387Gln,ENST00000397104,; G ENSG00000213973 ENST00000596209 Transcript missense_variant 1523/7817 1432/2595 478/864 E/Q Gag/Cag rs1487992867,COSM1129915 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 deleterious(0.02) benign(0.432) 4/4 Gene3D:2.20.25.10,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 5 0,1 PASS TCT . . 4.096e-06 2.997e-05 22758477 ZNF571 . GRCh38 chr19 37565525 37565525 + Missense_Mutation SNP A A C novel 7316-347 BS_F0WR427W A A c.903T>G p.His301Gln p.H301Q ENST00000328550 4/5 73 64 8 45 44 1 ZNF571,missense_variant,p.His301Gln,ENST00000328550,;ZNF571,missense_variant,p.His301Gln,ENST00000593133,NM_001321272.1;ZNF571,missense_variant,p.His301Gln,ENST00000451802,NM_016536.4;ZNF571,missense_variant,p.His301Gln,ENST00000358744,NM_001290314.1;ZNF571,intron_variant,,ENST00000590751,;ZNF540,intron_variant,,ENST00000592533,NM_152606.4;ZNF571,downstream_gene_variant,,ENST00000590390,;ZNF571-AS1,intron_variant,,ENST00000585578,;ZNF571-AS1,intron_variant,,ENST00000586013,;ZNF571-AS1,intron_variant,,ENST00000586139,;ZNF571-AS1,intron_variant,,ENST00000587121,;ZNF571-AS1,intron_variant,,ENST00000589750,;ZNF571-AS1,intron_variant,,ENST00000589802,;ZNF571-AS1,intron_variant,,ENST00000590838,;ZNF571-AS1,intron_variant,,ENST00000591430,;ZNF571-AS1,intron_variant,,ENST00000592392,;ZNF571-AS1,downstream_gene_variant,,ENST00000588382,;ZNF571-AS1,upstream_gene_variant,,ENST00000591177,; C ENSG00000180479 ENST00000328550 Transcript missense_variant 1022/4113 903/1830 301/609 H/Q caT/caG 1 -1 ZNF571 HGNC HGNC:25000 protein_coding YES CCDS12505.1 ENSP00000333660 Q7Z3V5 A0A024R0L0 UPI000020220A deleterious(0) probably_damaging(1) 4/5 Gene3D:2.20.28.30,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF141,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TAT . . 37565525 CD177 . GRCh38 chr19 43362238 43362238 + Missense_Mutation SNP A A G rs752153110 7316-347 BS_F0WR427W A A c.1232A>G p.Glu411Gly p.E411G ENST00000618265 9/9 106 85 16 26 26 0 CD177,missense_variant,p.Glu411Gly,ENST00000618265,NM_020406.3;AC005392.3,intron_variant,,ENST00000607109,;CD177,3_prime_UTR_variant,,ENST00000378012,;,regulatory_region_variant,,ENSR00000109943,; G ENSG00000204936 ENST00000618265 Transcript missense_variant 1288/2222 1232/1314 411/437 E/G gAg/gGg rs752153110 1 1 CD177 HGNC HGNC:30072 protein_coding YES CCDS62700.1 ENSP00000479536 A0A087WVM2 UPI0000DB6A71 NM_020406.3 tolerated(0.26) benign(0) 9/9 hmmpanther:PTHR16529,hmmpanther:PTHR16529:SF8 MODERATE 1 SNV 1 PASS GAG . . 1.231e-05 3.04e-05 0.0001858 3.308e-05 43362238 KIR3DL1 . GRCh38 chr19 54817538 54817538 + Missense_Mutation SNP G G C rs1142881 7316-347 BS_F0WR427W G G c.39G>C p.Leu13Phe p.L13F ENST00000391728 2/9 127 111 13 40 38 1 KIR3DL1,missense_variant,p.Leu13Phe,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Leu13Phe,ENST00000326542,;KIR3DL1,missense_variant,p.Leu13Phe,ENST00000358178,;KIR2DL4,downstream_gene_variant,,ENST00000345540,NM_001080770.1;KIR2DL4,downstream_gene_variant,,ENST00000346587,;KIR2DL4,downstream_gene_variant,,ENST00000357494,;KIR2DL4,downstream_gene_variant,,ENST00000359085,NM_001080772.1;KIR2DL4,downstream_gene_variant,,ENST00000396284,;KIR2DL4,downstream_gene_variant,,ENST00000396289,;KIR2DL4,downstream_gene_variant,,ENST00000396293,;KIR2DL4,downstream_gene_variant,,ENST00000463062,;KIR2DL4,downstream_gene_variant,,ENST00000486965,; C ENSG00000167633 ENST00000391728 Transcript missense_variant 72/1871 39/1335 13/444 L/F ttG/ttC rs1142881,COSM4132546,COSM4132545 1 1 KIR3DL1 HGNC HGNC:6338 protein_coding YES CCDS42621.1 ENSP00000375608 P43629 Q5UCE2 UPI000012DB24 NM_013289.2 tolerated(1) benign(0) 2/9 Cleavage_site_(Signalp):SignalP-noTM 0.6121 0.2869 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS TGT . . 0.07966 0.2819 0.05441 0.04036 0.2419 0.06341 0.06986 0.05 0.02554 54817538 KMT5C . GRCh38 chr19 55346328 55346328 + Missense_Mutation SNP G G A novel 7316-347 BS_F0WR427W G G c.686G>A p.Cys229Tyr p.C229Y ENST00000255613 7/9 108 100 7 30 30 0 KMT5C,missense_variant,p.Cys229Tyr,ENST00000255613,NM_032701.3;KMT5C,missense_variant,p.Cys114Tyr,ENST00000630497,;COX6B2,downstream_gene_variant,,ENST00000326529,NM_144613.4;COX6B2,downstream_gene_variant,,ENST00000588572,;COX6B2,downstream_gene_variant,,ENST00000590900,;COX6B2,downstream_gene_variant,,ENST00000593184,;KMT5C,non_coding_transcript_exon_variant,,ENST00000460956,;KMT5C,non_coding_transcript_exon_variant,,ENST00000587442,;KMT5C,downstream_gene_variant,,ENST00000402499,;KMT5C,3_prime_UTR_variant,,ENST00000445196,;KMT5C,3_prime_UTR_variant,,ENST00000592631,;KMT5C,non_coding_transcript_exon_variant,,ENST00000474492,;KMT5C,downstream_gene_variant,,ENST00000464185,;KMT5C,downstream_gene_variant,,ENST00000468951,;KMT5C,downstream_gene_variant,,ENST00000498738,;KMT5C,downstream_gene_variant,,ENST00000589338,; A ENSG00000133247 ENST00000255613 Transcript missense_variant 934/2308 686/1389 229/462 C/Y tGt/tAt 1 1 KMT5C HGNC HGNC:28405 protein_coding YES CCDS12922.1 ENSP00000255613 Q86Y97 UPI000000DABC NM_032701.3 deleterious(0) probably_damaging(0.999) 7/9 PROSITE_profiles:PS51570,hmmpanther:PTHR12977:SF11,hmmpanther:PTHR12977,Superfamily_domains:SSF82199 MODERATE 1 SNV 1 PASS TGT . . 55346328 ZNF264 . GRCh38 chr19 57211942 57211942 + Missense_Mutation SNP G G C novel 7316-347 BS_F0WR427W G G c.845G>C p.Ser282Thr p.S282T ENST00000263095 4/4 105 94 8 25 24 0 ZNF264,missense_variant,p.Ser282Thr,ENST00000263095,NM_003417.4;ZNF264,missense_variant,p.Ser282Thr,ENST00000536056,;ZNF264,downstream_gene_variant,,ENST00000597447,; C ENSG00000083844 ENST00000263095 Transcript missense_variant 1259/12163 845/1884 282/627 S/T aGt/aCt 1 1 ZNF264 HGNC HGNC:13057 protein_coding YES CCDS33127.1 ENSP00000263095 O43296 UPI000013C33B NM_003417.4 tolerated(1) probably_damaging(0.992) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF689,Gene3D:3.30.160.60,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS AGT . . 57211942 ZNF586 . GRCh38 chr19 57779143 57779143 + Missense_Mutation SNP G G T novel 7316-347 BS_F0WR427W G G c.556G>T p.Ala186Ser p.A186S ENST00000396154 3/3 65 54 7 40 36 0 ZNF586,missense_variant,p.Ala143Ser,ENST00000391702,NM_001204814.1;ZNF586,missense_variant,p.Ala186Ser,ENST00000396154,NM_017652.3;ZNF586,missense_variant,p.Lys143Asn,ENST00000396150,NM_001077426.2;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000598885,;ZNF586,intron_variant,,ENST00000599802,; T ENSG00000083828 ENST00000396154 Transcript missense_variant 729/2163 556/1209 186/402 A/S Gcc/Tcc 1 1 ZNF586 HGNC HGNC:25949 protein_coding YES CCDS42640.1 ENSP00000379458 Q9NXT0 UPI0000202D48 NM_017652.3 tolerated(1) benign(0.023) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF708,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGC . . 57779143 FRG1EP . GRCh38 chr20 29482553 29482553 + Splice_Region SNP T T A rs1418717426 7316-347 BS_F0WR427W T T n.532-8A>T ENST00000634469 44 34 10 37 37 0 FRG1EP,splice_region_variant,,ENST00000634469,; A ENSG00000282995 ENST00000634469 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1418717426 1 -1 FRG1EP HGNC HGNC:51764 unprocessed_pseudogene YES 6/8 LOW 1 SNV PASS ATT . . 29482553 CBFA2T2 . GRCh38 chr20 33619581 33619581 + Missense_Mutation SNP G A A 7316-347 BS_F0WR427W G G c.512G>A p.Arg171His p.R171H ENST00000346541 5/12 38 1 36 35 35 0 CBFA2T2,missense_variant,p.Arg142His,ENST00000492345,;CBFA2T2,missense_variant,p.Arg171His,ENST00000346541,NM_005093.3;CBFA2T2,missense_variant,p.Arg171His,ENST00000375279,;CBFA2T2,missense_variant,p.Arg142His,ENST00000397800,NM_001039709.1;CBFA2T2,missense_variant,p.Arg181His,ENST00000359606,;CBFA2T2,missense_variant,p.Arg162His,ENST00000342704,NM_001032999.2;CBFA2T2,missense_variant,p.Arg142His,ENST00000344201,;CBFA2T2,non_coding_transcript_exon_variant,,ENST00000491618,;CBFA2T2,downstream_gene_variant,,ENST00000471007,; A ENSG00000078699 ENST00000346541 Transcript missense_variant 1049/7737 512/1815 171/604 R/H cGt/cAt COSM4928145,COSM4928144,COSM4928143,COSM4291360,COSM1681623,COSM1681622 1 1 CBFA2T2 HGNC HGNC:1536 protein_coding YES CCDS13221.1 ENSP00000262653 O43439 UPI0000073E07 NM_005093.3 deleterious(0) probably_damaging(0.994) 5/12 PROSITE_profiles:PS51119,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF13,Pfam_domain:PF07531,SMART_domains:SM00549,Superfamily_domains:SSF158553,Prints_domain:PR01875 1,1,1,1,1,1 MODERATE 1 SNV 1 1,1,1,1,1,1 PASS CGT . . 33619581 SEMG2 . GRCh38 chr20 45222990 45222990 + Missense_Mutation SNP C C A rs771458905 7316-347 BS_F0WR427W C C c.1358C>A p.Pro453His p.P453H ENST00000372769 2/3 46 38 5 33 33 0 SEMG2,missense_variant,p.Pro453His,ENST00000372769,NM_003008.2; A ENSG00000124157 ENST00000372769 Transcript missense_variant 1448/2051 1358/1749 453/582 P/H cCt/cAt rs771458905,COSM1130626 1 1 SEMG2 HGNC HGNC:10743 protein_coding YES CCDS13346.1 ENSP00000361855 Q02383 UPI0000135845 NM_003008.2 tolerated(0.19) probably_damaging(0.983) 2/3 Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CCT . . 1.22e-05 1.793e-05 0.0001825 45222990 SNX21 . GRCh38 chr20 45840651 45840651 + Missense_Mutation SNP G A A rs4638862 7316-347 BS_F0WR427W G G c.460G>A p.Ala154Thr p.A154T ENST00000491381 4/4 71 0 69 27 20 6 SNX21,missense_variant,p.Ala145Thr,ENST00000372542,;SNX21,missense_variant,p.Ala154Thr,ENST00000491381,NM_033421.3;SNX21,missense_variant,p.Ala154Thr,ENST00000342644,NM_152897.2;SNX21,synonymous_variant,p.Ser157=,ENST00000462307,NM_001042632.2,NM_001042633.2;SNX21,synonymous_variant,p.Ser148=,ENST00000372541,;ACOT8,downstream_gene_variant,,ENST00000217455,NM_005469.3;ACOT8,downstream_gene_variant,,ENST00000487205,;SNX21,downstream_gene_variant,,ENST00000614929,;SNX21,non_coding_transcript_exon_variant,,ENST00000344780,;SNX21,non_coding_transcript_exon_variant,,ENST00000472219,;SNX21,non_coding_transcript_exon_variant,,ENST00000478230,;SNX21,non_coding_transcript_exon_variant,,ENST00000465997,;SNX21,non_coding_transcript_exon_variant,,ENST00000372547,;SNX21,non_coding_transcript_exon_variant,,ENST00000486336,;ACOT8,downstream_gene_variant,,ENST00000461272,;ACOT8,downstream_gene_variant,,ENST00000483141,;ACOT8,downstream_gene_variant,,ENST00000484783,;ACOT8,downstream_gene_variant,,ENST00000484975,;ACOT8,downstream_gene_variant,,ENST00000486165,;ACOT8,downstream_gene_variant,,ENST00000488679,;ACOT8,downstream_gene_variant,,ENST00000493118,; A ENSG00000124104 ENST00000491381 Transcript missense_variant 528/1607 460/1122 154/373 A/T Gcc/Acc rs4638862,COSM4001916,COSM4001915 1 1 SNX21 HGNC HGNC:16154 protein_coding YES CCDS13377.1 ENSP00000418593 Q969T3 UPI0000135B51 NM_033421.3 tolerated(0.22) benign(0.005) 4/4 PROSITE_profiles:PS50195,cd07301,hmmpanther:PTHR20939,hmmpanther:PTHR20939:SF10,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268 0.3502 0.0658 0.5202 0.4276 0.5298 0.3497 0.1571 0.5333 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGC . . 0.4851 0.1331 0.5102 0.3745 0.4376 0.6003 0.5514 0.4898 0.3706 45840651 GPR174 . GRCh38 chrX 79171491 79171491 + Missense_Mutation SNP T C C rs3827440 7316-347 BS_F0WR427W T T c.484T>C p.Ser162Pro p.S162P ENST00000645147 3/3 33 1 32 24 18 6 GPR174,missense_variant,p.Ser162Pro,ENST00000645147,;GPR174,missense_variant,p.Ser162Pro,ENST00000276077,NM_032553.1; C ENSG00000147138 ENST00000645147 Transcript missense_variant 1692/5516 484/1002 162/333 S/P Tct/Cct rs3827440,CM136723,COSM1179849 1 1 GPR174 HGNC HGNC:30245 protein_coding YES CCDS14443.1 ENSP00000494310 UPI0000050477 tolerated(0.37) benign(0) 3/3 Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR44768,Superfamily_domains:SSF81321,cd15152 0.4668 0.3888 0.3702 0.4241 0.6201 0.5279 0.4198 0.5945 0,0,1 23667180,24289805,25295623 MODERATE 1 SNV 0,1,1 PASS CTC . . 0.5141 0.4131 0.2685 0.486 0.3976 0.6298 0.6029 0.5499 0.5328 79171491 STAG2 . GRCh38 chrX 124042561 124042561 + Splice_Region SNP A G G 7316-347 BS_F0WR427W A A c.386-8A>G ENST00000218089 42 1 40 50 50 0 STAG2,splice_region_variant,,ENST00000218089,NM_001042749.2;STAG2,splice_region_variant,,ENST00000371144,NM_001042751.1;STAG2,splice_region_variant,,ENST00000371145,NM_001042750.1;STAG2,splice_region_variant,,ENST00000371157,NM_006603.4;STAG2,splice_region_variant,,ENST00000371160,NM_001282418.1;STAG2,splice_region_variant,,ENST00000428941,;STAG2,splice_region_variant,,ENST00000435103,;STAG2,splice_region_variant,,ENST00000435215,;STAG2,splice_region_variant,,ENST00000455404,;STAG2,downstream_gene_variant,,ENST00000394478,;STAG2,intron_variant,,ENST00000466748,;STAG2,intron_variant,,ENST00000469481,;STAG2,intron_variant,,ENST00000471107,;STAG2,intron_variant,,ENST00000483575,;STAG2,splice_region_variant,,ENST00000458176,; G ENSG00000101972 ENST00000218089 Transcript splice_region_variant,intron_variant COSM4167124,COSM1717794 1 1 STAG2 HGNC HGNC:11355 protein_coding YES CCDS43990.1 ENSP00000218089 Q8N3U4 UPI00004A3A8A NM_001042749.2 6/34 1,1 LOW 1 SNV 1 1,1 1 PASS AAA . . 124042561 PNMA6E . GRCh38 chrX 153398417 153398417 + Missense_Mutation SNP T T C rs1423843096 7316-347 BS_F0WR427W T T c.433A>G p.Thr145Ala p.T145A ENST00000445091 2/2 58 46 9 29 24 0 PNMA6E,missense_variant,p.Thr145Ala,ENST00000445091,;PNMA6E,intron_variant,,ENST00000633844,NM_001351294.1,NM_001351293.1; C ENSG00000214897 ENST00000445091 Transcript missense_variant 681/2192 433/1944 145/647 T/A Aca/Gca rs1423843096 1 -1 PNMA6E HGNC HGNC:50767 protein_coding YES ENSP00000488500 A0A0J9YXQ4 UPI0006454748 tolerated(0.83) unknown(0) 2/2 hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF20,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GTG . . 153398417 FAM43B . GRCh38 chr1 20553541 20553541 + Missense_Mutation SNP C C A novel 7316-1772 BS_QYGZMWPC C C c.568C>A p.Leu190Met p.L190M ENST00000332947 1/1 89 80 7 29 29 0 FAM43B,missense_variant,p.Leu190Met,ENST00000332947,NM_207334.2;,regulatory_region_variant,,ENSR00000002627,; A ENSG00000183114 ENST00000332947 Transcript missense_variant 1103/2572 568/990 190/329 L/M Ctg/Atg 1 1 FAM43B HGNC HGNC:31791 protein_coding YES CCDS209.1 ENSP00000331397 Q6ZT52 UPI00001C0D42 NM_207334.2 tolerated(1) benign(0.158) 1/1 Low_complexity_(Seg):seg,cd01214,hmmpanther:PTHR11232:SF34,hmmpanther:PTHR11232,Pfam_domain:PF14719,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729 MODERATE 1 SNV PASS CCT . . 20553541 ZSWIM5 . GRCh38 chr1 45205887 45205887 + Missense_Mutation SNP C C T novel 7316-1772 BS_QYGZMWPC C C c.464G>A p.Gly155Asp p.G155D ENST00000359600 1/14 35 28 6 17 17 0 ZSWIM5,missense_variant,p.Gly155Asp,ENST00000359600,NM_020883.1;ZSWIM5,intron_variant,,ENST00000464588,;,regulatory_region_variant,,ENSR00000005837,; T ENSG00000162415 ENST00000359600 Transcript missense_variant 670/5819 464/3558 155/1185 G/D gGc/gAc 1 -1 ZSWIM5 HGNC HGNC:29299 protein_coding YES CCDS41319.1 ENSP00000352614 Q9P217 UPI00001C1D76 NM_020883.1 tolerated(0.62) benign(0.013) 1/14 Low_complexity_(Seg):seg,hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF2 MODERATE 1 SNV 1 PASS GCC . . 45205887 HOOK1 . GRCh38 chr1 59833491 59833491 + Missense_Mutation SNP G G T novel 7316-1772 BS_QYGZMWPC G G c.360G>T p.Leu120Phe p.L120F ENST00000371208 5/22 70 65 5 42 42 0 HOOK1,missense_variant,p.Leu120Phe,ENST00000371208,NM_015888.4;HOOK1,missense_variant,p.Leu120Phe,ENST00000455990,;HOOK1,non_coding_transcript_exon_variant,,ENST00000465876,; T ENSG00000134709 ENST00000371208 Transcript missense_variant 617/5857 360/2187 120/728 L/F ttG/ttT 1 1 HOOK1 HGNC HGNC:19884 protein_coding YES CCDS612.1 ENSP00000360252 Q9UJC3 UPI0000071E61 NM_015888.4 deleterious(0) probably_damaging(0.984) 5/22 Pfam_domain:PF05622,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF36,Superfamily_domains:SSF116907 MODERATE 1 SNV 1 PASS TGC . . 59833491 TRAF5 . GRCh38 chr1 211369522 211369522 + Missense_Mutation SNP A A G novel 7316-1772 BS_QYGZMWPC A A c.860A>G p.Lys287Arg p.K287R ENST00000261464 9/11 81 42 37 28 28 0 TRAF5,missense_variant,p.Lys287Arg,ENST00000261464,NM_001033910.2,NM_001319207.1;TRAF5,missense_variant,p.Lys287Arg,ENST00000336184,NM_004619.3;TRAF5,missense_variant,p.Lys287Arg,ENST00000367004,NM_145759.2;TRAF5,non_coding_transcript_exon_variant,,ENST00000473385,;TRAF5,downstream_gene_variant,,ENST00000462410,; G ENSG00000082512 ENST00000261464 Transcript missense_variant 914/3972 860/1674 287/557 K/R aAa/aGa 1 1 TRAF5 HGNC HGNC:12035 protein_coding YES CCDS1497.1 ENSP00000261464 O00463 UPI0000070955 NM_001033910.2,NM_001319207.1 tolerated(0.15) benign(0.048) 9/11 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10131:SF83,hmmpanther:PTHR10131,PIRSF_domain:PIRSF015614,Gene3D:1.20.120.570 MODERATE 1 SNV 1 PASS AAA . . 211369522 DNAJC27 . GRCh38 chr2 24967226 24967226 + Missense_Mutation SNP T T C novel 7316-1772 BS_QYGZMWPC T T c.155A>G p.Asp52Gly p.D52G ENST00000264711 2/7 99 85 14 22 22 0 DNAJC27,missense_variant,p.Asp52Gly,ENST00000264711,NM_016544.2;DNAJC27,missense_variant,p.Asp52Gly,ENST00000534855,NM_001198559.1;RF00016,downstream_gene_variant,,ENST00000365609,;DNAJC27-AS1,upstream_gene_variant,,ENST00000421842,;DNAJC27-AS1,upstream_gene_variant,,ENST00000421904,;DNAJC27-AS1,upstream_gene_variant,,ENST00000422449,;DNAJC27-AS1,upstream_gene_variant,,ENST00000428614,;DNAJC27-AS1,upstream_gene_variant,,ENST00000434897,;DNAJC27-AS1,upstream_gene_variant,,ENST00000445389,;DNAJC27-AS1,upstream_gene_variant,,ENST00000451291,;DNAJC27,non_coding_transcript_exon_variant,,ENST00000468467,;DNAJC27,non_coding_transcript_exon_variant,,ENST00000494239,;DNAJC27,non_coding_transcript_exon_variant,,ENST00000468750,;DNAJC27,missense_variant,p.Asp52Gly,ENST00000380809,;DNAJC27,non_coding_transcript_exon_variant,,ENST00000492985,;AC013267.1,downstream_gene_variant,,ENST00000458227,; C ENSG00000115137 ENST00000264711 Transcript missense_variant 345/4992 155/822 52/273 D/G gAc/gGc 1 -1 DNAJC27 HGNC HGNC:30290 protein_coding YES CCDS1716.1 ENSP00000264711 Q9NZQ0 UPI000006F258 NM_016544.2 deleterious(0.01) probably_damaging(0.989) 2/7 PROSITE_profiles:PS51419,cd04119,hmmpanther:PTHR24073:SF269,hmmpanther:PTHR24073,Gene3D:3.30.70.1390,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449 MODERATE 1 SNV 1 PASS GTC . . 24967226 CRIM1 . GRCh38 chr2 36479626 36479626 + Missense_Mutation SNP C C T rs779719906 7316-1772 BS_QYGZMWPC C C c.1304C>T p.Ala435Val p.A435V ENST00000280527 7/17 83 54 28 41 41 0 CRIM1,missense_variant,p.Ala435Val,ENST00000280527,NM_016441.2;CRIM1,non_coding_transcript_exon_variant,,ENST00000481321,; T ENSG00000150938 ENST00000280527 Transcript missense_variant 1671/5912 1304/3111 435/1036 A/V gCg/gTg rs779719906 1 1 CRIM1 HGNC HGNC:2359 protein_coding YES CCDS1783.1 ENSP00000280527 Q9NZV1 UPI000004C628 NM_016441.2 deleterious(0.02) probably_damaging(0.977) 7/17 Gene3D:2.10.70.10,Pfam_domain:PF00093,PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF268,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603 MODERATE 1 SNV 1 1 PASS GCG . . 1.218e-05 5.956e-05 8.951e-06 36479626 CDKL4 . GRCh38 chr2 39229525 39229525 + Missense_Mutation SNP T T C novel 7316-1772 BS_QYGZMWPC T T c.8A>G p.Lys3Arg p.K3R ENST00000378803 1/8 107 84 22 44 43 0 CDKL4,missense_variant,p.Lys3Arg,ENST00000378803,NM_001009565.1;CDKL4,missense_variant,p.Lys3Arg,ENST00000395035,NM_001346911.1;CDKL4,missense_variant,p.Lys3Arg,ENST00000419111,; C ENSG00000205111 ENST00000378803 Transcript missense_variant 8/1567 8/948 3/315 K/R aAg/aGg 1 -1 CDKL4 HGNC HGNC:19287 protein_coding YES CCDS33184.1 ENSP00000368080 Q5MAI5 UPI00000398E1 NM_001009565.1 tolerated(0.23) benign(0.029) 1/8 cd07847,hmmpanther:PTHR24056:SF120,hmmpanther:PTHR24056,PIRSF_domain:PIRSF000654,Gene3D:3.30.200.20,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 PASS CTT . . 39229525 ZFP36L2 . GRCh38 chr2 43224601 43224603 + In_Frame_Del DEL CTG CTG - rs765410812 7316-1772 BS_QYGZMWPC CTG CTG c.1201_1203del p.Gln401del p.Q401del ENST00000282388 2/2 88 69 7 29 20 0 ZFP36L2,inframe_deletion,p.Gln401del,ENST00000282388,NM_006887.4;LINC01126,upstream_gene_variant,,ENST00000623515,;AC010883.1,upstream_gene_variant,,ENST00000423354,;,regulatory_region_variant,,ENSR00000116141,; - ENSG00000152518 ENST00000282388 Transcript inframe_deletion 1495-1497/3696 1201-1203/1485 401/494 Q/- CAG/- rs765410812,TMP_ESP_2_43451740_43451742,COSM6052855 1 -1 ZFP36L2 HGNC HGNC:1108 protein_coding YES CCDS1811.1 ENSP00000282388 P47974 UPI000013DCDA NM_006887.4 2/2 hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF100,mobidb-lite,Low_complexity_(Seg):seg 0.04737 0.06044 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS CCCTGC . . 0.05305 0.03085 0.06401 0.05483 0.04654 0.0465 0.05287 0.04598 0.05477 43224600 MTIF2 . GRCh38 chr2 55263706 55263706 + Nonsense_Mutation SNP C C T 7316-1772 BS_QYGZMWPC C C c.153G>A p.Trp51Ter p.W51* ENST00000263629 4/16 88 67 19 32 31 0 MTIF2,stop_gained,p.Trp51Ter,ENST00000263629,NM_001005369.1,NM_002453.2,NM_001321002.1,NM_001321001.1,NM_001321003.1,NM_001321005.1;MTIF2,stop_gained,p.Trp51Ter,ENST00000403721,NM_001321004.1;MTIF2,stop_gained,p.Trp51Ter,ENST00000394600,;MTIF2,stop_gained,p.Trp51Ter,ENST00000366137,;MTIF2,stop_gained,p.Trp51Ter,ENST00000441307,;MTIF2,stop_gained,p.Trp51Ter,ENST00000404297,;MTIF2,downstream_gene_variant,,ENST00000412530,;MTIF2,downstream_gene_variant,,ENST00000417363,;MTIF2,downstream_gene_variant,,ENST00000420637,;MTIF2,non_coding_transcript_exon_variant,,ENST00000446660,;MTIF2,non_coding_transcript_exon_variant,,ENST00000417741,; T ENSG00000085760 ENST00000263629 Transcript stop_gained 469/2528 153/2184 51/727 W/* tgG/tgA COSM4094878 1 -1 MTIF2 HGNC HGNC:7441 protein_coding YES CCDS1853.1 ENSP00000263629 P46199 UPI000013D42F NM_001005369.1,NM_002453.2,NM_001321002.1,NM_001321001.1,NM_001321003.1,NM_001321005.1 4/16 HAMAP:MF_00100_B 1 HIGH 1 SNV 1 1 PASS GCC . . 55263706 LINC01122 . GRCh38 chr2 58656651 58656651 + Splice_Region SNP C C T rs962303609 7316-1772 BS_QYGZMWPC C C n.197C>T ENST00000452840 3/12 70 54 16 33 32 0 LINC01122,splice_region_variant,,ENST00000452840,;LINC01122,splice_region_variant,,ENST00000427421,;LINC01122,splice_region_variant,,ENST00000422723,;LINC01122,splice_region_variant,,ENST00000455219,;LINC01122,splice_region_variant,,ENST00000429664,;LINC01122,intron_variant,,ENST00000429095,;LINC01122,intron_variant,,ENST00000449448,; T ENSG00000233723 ENST00000452840 Transcript splice_region_variant,non_coding_transcript_exon_variant 197/4077 rs962303609 1 1 LINC01122 HGNC HGNC:49267 lincRNA YES 3/12 LOW 1 SNV 5 PASS ACG . . 58656651 XIRP1 . GRCh38 chr3 39185241 39185241 + Missense_Mutation SNP C C T novel 7316-1772 BS_QYGZMWPC C C c.4205G>A p.Gly1402Asp p.G1402D ENST00000340369 2/2 78 72 5 37 35 0 XIRP1,missense_variant,p.Gly1402Asp,ENST00000340369,NM_194293.2;XIRP1,missense_variant,p.Gly85Asp,ENST00000421646,NM_001351377.1;XIRP1,3_prime_UTR_variant,,ENST00000396251,NM_001198621.2; T ENSG00000168334 ENST00000340369 Transcript missense_variant 4434/6460 4205/5532 1402/1843 G/D gGc/gAc 1 -1 XIRP1 HGNC HGNC:14301 protein_coding YES CCDS2683.1 ENSP00000343140 Q702N8 UPI00001BFB06 NM_194293.2 tolerated_low_confidence(0.27) benign(0.003) 2/2 mobidb-lite,hmmpanther:PTHR22591:SF2,hmmpanther:PTHR22591 MODERATE 1 SNV 1 PASS GCC . . 39185241 CADPS . GRCh38 chr3 62438105 62438105 + Missense_Mutation SNP T T A novel 7316-1772 BS_QYGZMWPC T T c.3776A>T p.Asp1259Val p.D1259V ENST00000383710 28/30 78 67 10 36 35 0 CADPS,missense_variant,p.Asp1259Val,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Asp1250Val,ENST00000612439,;CADPS,missense_variant,p.Asp1180Val,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Asp1220Val,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Asp251Val,ENST00000473635,;CADPS,missense_variant,p.Asp128Val,ENST00000613879,;CADPS,missense_variant,p.Asp160Val,ENST00000466621,;CADPS,splice_region_variant,,ENST00000474560,; A ENSG00000163618 ENST00000383710 Transcript missense_variant,splice_region_variant 4126/5471 3776/4062 1259/1353 D/V gAt/gTt 1 -1 CADPS HGNC HGNC:1426 protein_coding YES CCDS46858.1 ENSP00000373215 Q9ULU8 UPI00001C036A NM_003716.3 deleterious(0.01) possibly_damaging(0.462) 28/30 hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF6 MODERATE 1 SNV 1 PASS ATC . . 62438105 CADPS . GRCh38 chr3 62438106 62438106 + Missense_Mutation SNP C C A 7316-1772 BS_QYGZMWPC C C c.3775G>T p.Asp1259Tyr p.D1259Y ENST00000383710 28/30 80 69 10 37 36 0 CADPS,missense_variant,p.Asp1259Tyr,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Asp1250Tyr,ENST00000612439,;CADPS,missense_variant,p.Asp1180Tyr,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Asp1220Tyr,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Asp251Tyr,ENST00000473635,;CADPS,missense_variant,p.Asp128Tyr,ENST00000613879,;CADPS,missense_variant,p.Asp160Tyr,ENST00000466621,;CADPS,splice_region_variant,,ENST00000474560,; A ENSG00000163618 ENST00000383710 Transcript missense_variant,splice_region_variant 4125/5471 3775/4062 1259/1353 D/Y Gat/Tat COSM258549,COSM258548 1 -1 CADPS HGNC HGNC:1426 protein_coding YES CCDS46858.1 ENSP00000373215 Q9ULU8 UPI00001C036A NM_003716.3 deleterious(0) possibly_damaging(0.726) 28/30 hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF6 1,1 MODERATE 1 SNV 1 1,1 PASS TCA . . 62438106 ZBTB20 . GRCh38 chr3 114350292 114350292 + Missense_Mutation SNP G G C novel 7316-1772 BS_QYGZMWPC G G c.1786C>G p.His596Asp p.H596D ENST00000474710 4/5 57 50 7 29 27 0 ZBTB20,missense_variant,p.His523Asp,ENST00000357258,NM_015642.5,NM_001348801.1,NM_001348805.1,NM_001348802.1,NM_001348804.1,NM_001348803.1,NM_001348800.1;ZBTB20,missense_variant,p.His523Asp,ENST00000462705,NM_001164343.2;ZBTB20,missense_variant,p.His523Asp,ENST00000393785,NM_001164346.2;ZBTB20,missense_variant,p.His523Asp,ENST00000471418,NM_001164345.2;ZBTB20,missense_variant,p.His523Asp,ENST00000464560,NM_001164344.2;ZBTB20,missense_variant,p.His523Asp,ENST00000481632,NM_001164347.2;ZBTB20,missense_variant,p.His596Asp,ENST00000474710,NM_001164342.2;ZBTB20,downstream_gene_variant,,ENST00000470311,;ZBTB20-AS1,upstream_gene_variant,,ENST00000467304,;ZBTB20-AS1,upstream_gene_variant,,ENST00000475939,;ZBTB20-AS1,upstream_gene_variant,,ENST00000496219,;ZBTB20,intron_variant,,ENST00000479879,; C ENSG00000181722 ENST00000474710 Transcript missense_variant 1965/2757 1786/2226 596/741 H/D Cac/Gac 1 -1 ZBTB20 HGNC HGNC:13503 protein_coding YES CCDS54626.1 ENSP00000419153 Q9HC78 UPI0000141957 NM_001164342.2 deleterious(0) probably_damaging(0.987) 4/5 PROSITE_profiles:PS50157,hmmpanther:PTHR44715,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 1 PASS TGC . . 114350292 HAUS3 . GRCh38 chr4 2240081 2240081 + Missense_Mutation SNP C C T novel 7316-1772 BS_QYGZMWPC C C c.866G>A p.Ser289Asn p.S289N ENST00000243706 2/5 93 86 6 40 40 0 HAUS3,missense_variant,p.Ser289Asn,ENST00000243706,;HAUS3,missense_variant,p.Ser289Asn,ENST00000506763,;HAUS3,missense_variant,p.Ser289Asn,ENST00000443786,NM_024511.6,NM_001303143.1;POLN,intron_variant,,ENST00000511885,NM_181808.3;HAUS3,downstream_gene_variant,,ENST00000502440,;HAUS3,downstream_gene_variant,,ENST00000514395,;POLN,intron_variant,,ENST00000515357,; T ENSG00000214367 ENST00000243706 Transcript missense_variant 1096/5620 866/1812 289/603 S/N aGt/aAt 1 -1 HAUS3 HGNC HGNC:28719 protein_coding YES CCDS33941.1 ENSP00000243706 Q68CZ6 UPI000020BA32 deleterious(0.01) benign(0.135) 2/5 hmmpanther:PTHR19378,hmmpanther:PTHR19378:SF0 MODERATE 1 SNV 1 PASS ACT . . 2240081 USO1 . GRCh38 chr4 75808953 75808953 + Nonsense_Mutation SNP G G T novel 7316-1772 BS_QYGZMWPC G G c.2410G>T p.Glu804Ter p.E804* ENST00000264904 23/26 75 46 26 29 29 0 USO1,stop_gained,p.Glu804Ter,ENST00000264904,NM_001290049.1;USO1,stop_gained,p.Glu793Ter,ENST00000514213,NM_003715.3;USO1,downstream_gene_variant,,ENST00000508454,; T ENSG00000138768 ENST00000264904 Transcript stop_gained,splice_region_variant 2632/4135 2410/2922 804/973 E/* Gaa/Taa 1 1 USO1 HGNC HGNC:30904 protein_coding YES CCDS77929.1 ENSP00000264904 O60763 UPI0001D1479E NM_001290049.1 23/26 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10013,Pfam_domain:PF04871,Gene3D:1.20.5.170 HIGH 1 SNV 2 PASS GGA . . 75808953 INTU . GRCh38 chr4 127684422 127684422 + Missense_Mutation SNP C C T rs769527789 7316-1772 BS_QYGZMWPC C C c.1195C>T p.Arg399Cys p.R399C ENST00000335251 7/16 75 69 5 42 40 0 INTU,missense_variant,p.Arg399Cys,ENST00000335251,NM_015693.3;INTU,upstream_gene_variant,,ENST00000506283,;INTU,missense_variant,p.Arg399Cys,ENST00000503952,;INTU,3_prime_UTR_variant,,ENST00000503626,;INTU,non_coding_transcript_exon_variant,,ENST00000504276,; T ENSG00000164066 ENST00000335251 Transcript missense_variant 1298/13233 1195/2829 399/942 R/C Cgt/Tgt rs769527789,COSM1051075 1 1 INTU HGNC HGNC:29239 protein_coding YES CCDS34061.1 ENSP00000334003 Q9ULD6 UPI00001C1E05 NM_015693.3 tolerated(0.08) benign(0.417) 7/16 hmmpanther:PTHR21082 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCG . . 1.264e-05 0.0003153 127684422 CPLANE1 . GRCh38 chr5 37244535 37244535 + Missense_Mutation SNP C C A 7316-1772 BS_QYGZMWPC C C c.410G>T p.Cys137Phe p.C137F ENST00000425232 5/52 71 59 11 42 39 1 CPLANE1,missense_variant,p.Cys137Phe,ENST00000425232,NM_023073.3;CPLANE1,missense_variant,p.Cys137Phe,ENST00000508244,;RN7SL37P,downstream_gene_variant,,ENST00000490461,; A ENSG00000197603 ENST00000425232 Transcript missense_variant 641/11199 410/9594 137/3197 C/F tGc/tTc COSM2688535 1 -1 CPLANE1 HGNC HGNC:25801 protein_coding YES CCDS34146.2 ENSP00000389014 Q9H799 UPI0001AAB3EA NM_023073.3 tolerated(0.08) benign(0.01) 5/52 Gene3D:2.130.10.10,hmmpanther:PTHR14492 1 MODERATE 1 SNV 5 1 1 PASS GCA . . 37244535 ITGA2 . GRCh38 chr5 53080536 53080536 + Missense_Mutation SNP G G A rs572843852 7316-1772 BS_QYGZMWPC G G c.2954G>A p.Ser985Asn p.S985N ENST00000296585 25/30 83 72 11 35 35 0 ITGA2,missense_variant,p.Ser985Asn,ENST00000296585,NM_002203.3;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,3_prime_UTR_variant,,ENST00000509960,;ITGA2,3_prime_UTR_variant,,ENST00000510722,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;ITGA2,3_prime_UTR_variant,,ENST00000509814,; A ENSG00000164171 ENST00000296585 Transcript missense_variant 3097/7869 2954/3546 985/1181 S/N aGc/aAc rs572843852 1 1 ITGA2 HGNC HGNC:6137 protein_coding YES CCDS3957.1 ENSP00000296585 P17301 UPI0000169C36 NM_002203.3 tolerated(0.46) benign(0.007) 25/30 Gene3D:2.60.40.1530,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23,Superfamily_domains:SSF69179 0.0002 0.001 MODERATE 1 SNV 1 1 PASS AGC . . 8.141e-06 8.988e-06 3.249e-05 53080536 MCTP1 . GRCh38 chr5 94912949 94912949 + Missense_Mutation SNP C C T novel 7316-1772 BS_QYGZMWPC C C c.1378G>A p.Asp460Asn p.D460N ENST00000515393 9/23 65 58 7 46 45 0 MCTP1,missense_variant,p.Asp460Asn,ENST00000515393,NM_024717.5;MCTP1,missense_variant,p.Asp193Asn,ENST00000429576,NM_001297777.1;MCTP1,missense_variant,p.Asp61Asn,ENST00000506568,;MCTP1,missense_variant,p.Asp239Asn,ENST00000312216,NM_001002796.3;MCTP1,missense_variant,p.Asp180Asn,ENST00000508509,;MCTP1,missense_variant,p.Asp239Asn,ENST00000505208,;MCTP1,missense_variant,p.Asp121Asn,ENST00000512425,;MCTP1,missense_variant,p.Asp223Asn,ENST00000503301,;MCTP1,missense_variant,p.Asp162Asn,ENST00000507214,;MCTP1,5_prime_UTR_variant,,ENST00000505078,; T ENSG00000175471 ENST00000515393 Transcript missense_variant 1378/5396 1378/3000 460/999 D/N Gac/Aac 1 -1 MCTP1 HGNC HGNC:26183 protein_coding YES CCDS34203.1 ENSP00000424126 Q6DN14 UPI0000D6165C NM_024717.5 deleterious(0.01) possibly_damaging(0.87) 9/23 Gene3D:2.60.40.150,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF56 MODERATE 1 SNV 1 PASS TCT . . 94912949 SRSF12 . GRCh38 chr6 89107179 89107179 + Missense_Mutation SNP G G A rs1221610287 7316-1772 BS_QYGZMWPC G G c.145C>T p.Arg49Cys p.R49C ENST00000452027 2/5 74 48 26 38 38 0 SRSF12,missense_variant,p.Arg49Cys,ENST00000452027,NM_080743.4;SRSF12,intron_variant,,ENST00000475068,;SRSF12,intron_variant,,ENST00000517387,;SRSF12,upstream_gene_variant,,ENST00000488604,;SRSF12,upstream_gene_variant,,ENST00000524221,; A ENSG00000154548 ENST00000452027 Transcript missense_variant 339/3599 145/786 49/261 R/C Cgc/Tgc rs1221610287,COSM5127468 1 -1 SRSF12 HGNC HGNC:21220 protein_coding YES CCDS47459.1 ENSP00000414302 Q8WXF0 UPI00000721B8 NM_080743.4 deleterious(0.03) benign(0.189) 2/5 PROSITE_profiles:PS50102,cd12312,hmmpanther:PTHR23147,hmmpanther:PTHR23147:SF3,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928 0,1 MODERATE 1 SNV 1 0,1 PASS CGG . . 4.061e-06 8.952e-06 89107179 SYNE1 . GRCh38 chr6 152231569 152231570 + Splice_Region INS - - A rs755011653 7316-1772 BS_QYGZMWPC - - c.20863-3dup ENST00000367255 72 61 6 29 27 0 SYNE1,splice_region_variant,,ENST00000341594,;SYNE1,splice_region_variant,,ENST00000367255,NM_182961.3;SYNE1,splice_region_variant,,ENST00000423061,NM_033071.3;SYNE1,splice_region_variant,,ENST00000367256,;SYNE1,splice_region_variant,,ENST00000409694,; A ENSG00000131018 ENST00000367255 Transcript splice_region_variant,intron_variant rs755011653 1 -1 SYNE1 HGNC HGNC:17089 protein_coding YES CCDS5236.2 ENSP00000356224 Q8NF91 UPI000204AF58 NM_182961.3 113/145 likely_benign LOW 1 insertion 1 1 PASS CTA . . 0.0003474 7.224e-05 0.0006297 0.0002269 6.671e-05 0.0002466 0.0004186 0.000417 0.0001843 152231569 ASAP1 . GRCh38 chr8 130159920 130159920 + Missense_Mutation SNP C C A novel 7316-1772 BS_QYGZMWPC C C c.954G>T p.Gln318His p.Q318H ENST00000518721 12/30 59 36 23 31 29 0 ASAP1,missense_variant,p.Gln311His,ENST00000357668,NM_001247996.1;ASAP1,missense_variant,p.Gln318His,ENST00000518721,NM_018482.3;ASAP1,missense_variant,p.Gln139His,ENST00000524124,;RF00586,upstream_gene_variant,,ENST00000391040,;ASAP1,non_coding_transcript_exon_variant,,ENST00000524367,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000524018,; A ENSG00000153317 ENST00000518721 Transcript missense_variant 1182/5507 954/3390 318/1129 Q/H caG/caT 1 -1 ASAP1 HGNC HGNC:2720 protein_coding YES CCDS6362.1 ENSP00000429900 Q9ULH1 UPI0000351D6E NM_018482.3 deleterious(0.01) probably_damaging(0.962) 12/30 Gene3D:2.30.29.30,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF192,Superfamily_domains:SSF50729,cd13251 MODERATE 1 SNV 5 PASS CCT . . 130159920 C9orf85 . GRCh38 chr9 71971524 71971524 + Missense_Mutation SNP A A T rs1429961000 7316-1772 BS_QYGZMWPC A A c.229A>T p.Thr77Ser p.T77S ENST00000334731 3/4 75 67 7 34 34 0 C9orf85,missense_variant,p.Thr77Ser,ENST00000334731,NM_182505.3;C9orf85,missense_variant,p.Thr77Ser,ENST00000377031,;C9orf85,intron_variant,,ENST00000486911,;C9orf85,3_prime_UTR_variant,,ENST00000479413,;C9orf85,3_prime_UTR_variant,,ENST00000473252,;C9orf85,3_prime_UTR_variant,,ENST00000377027,; T ENSG00000155621 ENST00000334731 Transcript missense_variant 419/1279 229/474 77/157 T/S Aca/Tca rs1429961000 1 1 C9orf85 HGNC HGNC:28784 protein_coding YES CCDS6639.1 ENSP00000334289 Q96MD7 UPI0000197C73 NM_182505.3 deleterious(0.04) benign(0.046) 3/4 hmmpanther:PTHR22876,Pfam_domain:PF10217 MODERATE 1 SNV 1 PASS GAC . . 71971524 PRUNE2 . GRCh38 chr9 76706845 76706845 + Missense_Mutation SNP T T C novel 7316-1772 BS_QYGZMWPC T T c.5429A>G p.Lys1810Arg p.K1810R ENST00000376718 8/19 59 39 17 25 25 0 PRUNE2,missense_variant,p.Lys1810Arg,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Lys1451Arg,ENST00000428286,;PRUNE2,missense_variant,p.Lys1810Arg,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,missense_variant,p.Lys1132Arg,ENST00000426088,;PCA3,intron_variant,,ENST00000642542,;PCA3,intron_variant,,ENST00000643823,;PCA3,intron_variant,,ENST00000644302,;PCA3,intron_variant,,ENST00000644657,;PCA3,intron_variant,,ENST00000645196,;PCA3,intron_variant,,ENST00000645704,;PCA3,intron_variant,,ENST00000645839,;PCA3,intron_variant,,ENST00000645887,;PCA3,intron_variant,,ENST00000646854,;PCA3,intron_variant,,ENST00000646947,;PCA3,intron_variant,,ENST00000647325,;PRUNE2,upstream_gene_variant,,ENST00000480674,; C ENSG00000106772 ENST00000376718 Transcript missense_variant 5553/12584 5429/9267 1810/3088 K/R aAg/aGg 1 -1 PRUNE2 HGNC HGNC:25209 protein_coding YES CCDS47982.1 ENSP00000365908 Q8WUY3 UPI0001612CC0 NM_015225.2 tolerated(0.36) benign(0.003) 8/19 hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF11,mobidb-lite MODERATE 1 SNV 5 PASS CTT . . 76706845 ZNF462 . GRCh38 chr9 106928422 106928422 + Missense_Mutation SNP G G T novel 7316-1772 BS_QYGZMWPC G G c.4510G>T p.Ala1504Ser p.A1504S ENST00000277225 3/13 64 59 5 32 31 0 ZNF462,missense_variant,p.Ala1504Ser,ENST00000277225,NM_021224.4;ZNF462,missense_variant,p.Ala387Ser,ENST00000374686,;ZNF462,missense_variant,p.Ala349Ser,ENST00000441147,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,intron_variant,,ENST00000480607,;ZNF462,upstream_gene_variant,,ENST00000469433,;ZNF462,upstream_gene_variant,,ENST00000471032,;ZNF462,upstream_gene_variant,,ENST00000479166,;ZNF462,upstream_gene_variant,,ENST00000497489,; T ENSG00000148143 ENST00000277225 Transcript missense_variant 4799/10414 4510/7521 1504/2506 A/S Gcc/Tcc 1 1 ZNF462 HGNC HGNC:21684 protein_coding YES CCDS35096.1 ENSP00000277225 Q96JM2 UPI0000470106 NM_021224.4 deleterious(0.04) probably_damaging(0.991) 3/13 Gene3D:3.30.160.60,hmmpanther:PTHR44863 MODERATE 1 SNV 1 1 PASS TGC . . 106928422 VAV2 . GRCh38 chr9 133783545 133783545 + Frame_Shift_Del DEL C C - novel 7316-1772 BS_QYGZMWPC C C c.1681del p.Ala561HisfsTer8 p.A561Hfs*8 ENST00000371850 19/30 46 29 13 42 40 0 VAV2,frameshift_variant,p.Ala551HisfsTer8,ENST00000371851,;VAV2,frameshift_variant,p.Ala561HisfsTer8,ENST00000371850,NM_001134398.1;VAV2,frameshift_variant,p.Ala551HisfsTer8,ENST00000406606,NM_003371.3; - ENSG00000160293 ENST00000371850 Transcript frameshift_variant 1713/4837 1681/2637 561/878 A/X Gca/ca 1 -1 VAV2 HGNC HGNC:12658 protein_coding YES CCDS48053.1 ENSP00000360916 P52735 UPI000013E06E NM_001134398.1 19/30 cd00029,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,PROSITE_profiles:PS50081,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF95,PROSITE_patterns:PS00479 HIGH 1 deletion 1 PASS TGCC . . 133783544 SEC16A . GRCh38 chr9 136459198 136459198 + Missense_Mutation SNP C C T novel 7316-1772 BS_QYGZMWPC C C c.5345G>A p.Arg1782Lys p.R1782K ENST00000313050 15/30 66 60 6 33 32 0 SEC16A,missense_variant,p.Arg1782Lys,ENST00000290037,NM_001276418.1;SEC16A,missense_variant,p.Arg1782Lys,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Arg1604Lys,ENST00000371706,;SEC16A,missense_variant,p.Arg1604Lys,ENST00000431893,;SEC16A,missense_variant,p.Arg504Lys,ENST00000453963,;SEC16A,missense_variant,p.Arg176Lys,ENST00000277537,;SEC16A,downstream_gene_variant,,ENST00000472305,; T ENSG00000148396 ENST00000313050 Transcript missense_variant 5419/8806 5345/7074 1782/2357 R/K aGg/aAg 1 -1 SEC16A HGNC HGNC:29006 protein_coding YES CCDS55351.1 ENSP00000325827 J3KNL6 UPI0000F0888B NM_014866.1 deleterious(0.03) probably_damaging(0.997) 15/30 Pfam_domain:PF12931,hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF13,cd09233 MODERATE 1 SNV 2 PASS CCT . . 136459198 C10orf67 . GRCh38 chr10 23267211 23267211 + Missense_Mutation SNP C C T novel 7316-1772 BS_QYGZMWPC C C c.1022G>A p.Gly341Asp p.G341D ENST00000636213 9/16 67 41 26 33 32 0 C10orf67,missense_variant,p.Gly341Asp,ENST00000636213,;C10orf67,missense_variant,p.Gly291Asp,ENST00000376500,;C10orf67,missense_variant,p.Gly314Asp,ENST00000376501,; T ENSG00000179133 ENST00000636213 Transcript missense_variant 1090/3981 1022/1656 341/551 G/D gGc/gAc 1 -1 C10orf67 HGNC HGNC:28716 protein_coding ENSP00000490528 Q8IYJ2 UPI0007DC4D7B tolerated(0.99) benign(0.007) 9/16 hmmpanther:PTHR22382 MODERATE 1 SNV 5 PASS GCC . . 23267211 SVIL . GRCh38 chr10 29490918 29490918 + Missense_Mutation SNP A A C rs199726033 7316-1772 BS_QYGZMWPC A A c.4121T>G p.Leu1374Arg p.L1374R ENST00000355867 22/38 50 38 11 19 19 0 SVIL,missense_variant,p.Leu1342Arg,ENST00000375398,;SVIL,missense_variant,p.Leu1374Arg,ENST00000355867,NM_001323599.1,NM_021738.2;SVIL,missense_variant,p.Leu948Arg,ENST00000375400,NM_001323600.1,NM_003174.3;SVIL,missense_variant,p.Leu300Arg,ENST00000632315,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL-AS1,downstream_gene_variant,,ENST00000413405,;SVIL,upstream_gene_variant,,ENST00000482607,;SVIL,downstream_gene_variant,,ENST00000491872,; C ENSG00000197321 ENST00000355867 Transcript missense_variant 4874/7586 4121/6645 1374/2214 L/R cTc/cGc rs199726033,COSM146919 1 -1 SVIL HGNC HGNC:11480 protein_coding YES CCDS7164.1 ENSP00000348128 O95425 UPI0000366678 NM_001323599.1,NM_021738.2 deleterious(0) possibly_damaging(0.506) 22/38 hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF45 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.1071 0.01054 0.06654 0.2243 0.01734 0.1831 0.1105 0.1149 0.1928 29490918 SORCS3 . GRCh38 chr10 105214584 105214584 + Missense_Mutation SNP A A T novel 7316-1772 BS_QYGZMWPC A A c.2518A>T p.Asn840Tyr p.N840Y ENST00000369701 18/27 44 14 29 38 36 0 SORCS3,missense_variant,p.Asn840Tyr,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Asn840Tyr,ENST00000369699,;SORCS3,downstream_gene_variant,,ENST00000393176,; T ENSG00000156395 ENST00000369701 Transcript missense_variant 2745/5757 2518/3669 840/1222 N/Y Aat/Tat 1 1 SORCS3 HGNC HGNC:16699 protein_coding YES CCDS7558.1 ENSP00000358715 Q9UPU3 UPI0000135CE1 NM_014978.2 deleterious(0.01) probably_damaging(0.997) 18/27 Gene3D:2.60.40.10,Pfam_domain:PF00801,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,Superfamily_domains:SSF49299 MODERATE 1 SNV 1 PASS CAA . . 105214584 HSPA12A . GRCh38 chr10 116679544 116679544 + Frame_Shift_Del DEL C C - novel 7316-1772 BS_QYGZMWPC C C c.1296del p.Lys432AsnfsTer19 p.K432Nfs*19 ENST00000635765 11/13 39 27 6 40 40 0 HSPA12A,frameshift_variant,p.Lys432AsnfsTer19,ENST00000635765,NM_001330164.1;HSPA12A,frameshift_variant,p.Lys415AsnfsTer19,ENST00000369209,NM_025015.2;HSPA12A,downstream_gene_variant,,ENST00000480802,; - ENSG00000165868 ENST00000635765 Transcript frameshift_variant 1469/5841 1296/2079 432/692 K/X aaG/aa 1 -1 HSPA12A HGNC HGNC:19022 protein_coding YES CCDS81511.1 ENSP00000489674 A0A1B0GTF3 UPI000387B91C NM_001330164.1 11/13 cd11735,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46,Gene3D:3.30.420.40,Superfamily_domains:SSF53067 HIGH 1 deletion 5 PASS AACT . . 116679543 ANO9 . GRCh38 chr11 420938 420938 + Splice_Region SNP C C G novel 7316-1772 BS_QYGZMWPC C C c.1490+7G>C ENST00000332826 67 62 5 35 35 0 ANO9,splice_region_variant,,ENST00000332826,NM_001012302.2;SIGIRR,upstream_gene_variant,,ENST00000332725,NM_001135053.1,NM_021805.2;SIGIRR,upstream_gene_variant,,ENST00000397632,;ANO9,splice_region_variant,,ENST00000526142,;ANO9,splice_region_variant,,ENST00000528927,;ANO9,splice_region_variant,,ENST00000532094,;ANO9,splice_region_variant,,ENST00000534161,;ANO9,non_coding_transcript_exon_variant,,ENST00000525804,;ANO9,upstream_gene_variant,,ENST00000524802,;SIGIRR,upstream_gene_variant,,ENST00000527295,;,regulatory_region_variant,,ENSR00000035624,; G ENSG00000185101 ENST00000332826 Transcript splice_region_variant,intron_variant 1 -1 ANO9 HGNC HGNC:20679 protein_coding YES CCDS31326.1 ENSP00000332788 A1A5B4 UPI0001505B10 NM_001012302.2 17/22 LOW 1 SNV 1 PASS GCA . . 420938 VWCE . GRCh38 chr11 61286397 61286397 + Missense_Mutation SNP C C A novel 7316-1772 BS_QYGZMWPC C C c.458G>T p.Gly153Val p.G153V ENST00000335613 5/20 63 54 7 28 27 0 VWCE,missense_variant,p.Gly153Val,ENST00000335613,NM_152718.2;VWCE,5_prime_UTR_variant,,ENST00000613271,;VWCE,missense_variant,p.Gly153Val,ENST00000301770,;VWCE,3_prime_UTR_variant,,ENST00000535599,;VWCE,non_coding_transcript_exon_variant,,ENST00000538579,; A ENSG00000167992 ENST00000335613 Transcript missense_variant 845/3640 458/2868 153/955 G/V gGc/gTc 1 -1 VWCE HGNC HGNC:26487 protein_coding YES CCDS8002.1 ENSP00000334186 Q96DN2 UPI000013E751 NM_152718.2 deleterious(0) probably_damaging(1) 5/20 Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_profiles:PS50026,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF361,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,cd00054 MODERATE 1 SNV 1 PASS GCC . . 61286397 PCNX3 . GRCh38 chr11 65630446 65630446 + Missense_Mutation SNP G G T novel 7316-1772 BS_QYGZMWPC G G c.4312G>T p.Val1438Phe p.V1438F ENST00000355703 27/35 68 63 5 30 30 0 PCNX3,missense_variant,p.Val1438Phe,ENST00000355703,NM_032223.3;PCNX3,non_coding_transcript_exon_variant,,ENST00000531280,;PCNX3,non_coding_transcript_exon_variant,,ENST00000439247,;PCNX3,downstream_gene_variant,,ENST00000530174,; T ENSG00000197136 ENST00000355703 Transcript missense_variant 4851/7105 4312/6105 1438/2034 V/F Gtc/Ttc 1 1 PCNX3 HGNC HGNC:18760 protein_coding YES CCDS44650.1 ENSP00000347931 Q9H6A9 UPI0000405B22 NM_032223.3 deleterious(0.02) benign(0.328) 27/35 hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4 MODERATE 1 SNV 5 PASS GGT . . 65630446 KMT2D . GRCh38 chr12 49022099 49022099 + Missense_Mutation SNP C C A novel 7316-1772 BS_QYGZMWPC C C c.16465G>T p.Asp5489Tyr p.D5489Y ENST00000301067 53/54 60 55 5 42 42 0 KMT2D,missense_variant,p.Asp5489Tyr,ENST00000301067,NM_003482.3;KMT2D,missense_variant,p.Asp170Tyr,ENST00000526209,;PRKAG1,upstream_gene_variant,,ENST00000316299,NM_001206709.1;PRKAG1,upstream_gene_variant,,ENST00000547082,;PRKAG1,upstream_gene_variant,,ENST00000547125,;PRKAG1,upstream_gene_variant,,ENST00000547306,;PRKAG1,upstream_gene_variant,,ENST00000548065,NM_002733.4;PRKAG1,upstream_gene_variant,,ENST00000548605,;PRKAG1,upstream_gene_variant,,ENST00000548857,;PRKAG1,upstream_gene_variant,,ENST00000548950,;PRKAG1,upstream_gene_variant,,ENST00000551121,;PRKAG1,upstream_gene_variant,,ENST00000551696,;PRKAG1,upstream_gene_variant,,ENST00000552212,NM_001206710.1;PRKAG1,upstream_gene_variant,,ENST00000552463,;DDN-AS1,downstream_gene_variant,,ENST00000547395,;DDN-AS1,downstream_gene_variant,,ENST00000547866,;DDN-AS1,downstream_gene_variant,,ENST00000552284,;DDN-AS1,downstream_gene_variant,,ENST00000552933,;PRKAG1,upstream_gene_variant,,ENST00000546531,;PRKAG1,upstream_gene_variant,,ENST00000549726,;PRKAG1,upstream_gene_variant,,ENST00000550125,;PRKAG1,upstream_gene_variant,,ENST00000550448,;PRKAG1,upstream_gene_variant,,ENST00000552657,; A ENSG00000167548 ENST00000301067 Transcript missense_variant 16465/19419 16465/16614 5489/5537 D/Y Gac/Tac 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 deleterious(0) probably_damaging(1) 53/54 Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,SMART_domains:SM00317,Superfamily_domains:SSF82199 MODERATE SNV 5 1 PASS TCA . . 49022099 STAB2 . GRCh38 chr12 103715884 103715884 + Missense_Mutation SNP A A G novel 7316-1772 BS_QYGZMWPC A A c.4607A>G p.Asn1536Ser p.N1536S ENST00000388887 43/69 65 54 10 36 35 0 STAB2,missense_variant,p.Asn1536Ser,ENST00000388887,NM_017564.9;STAB2,downstream_gene_variant,,ENST00000549798,;,regulatory_region_variant,,ENSR00000056455,; G ENSG00000136011 ENST00000388887 Transcript missense_variant 4811/8251 4607/7656 1536/2551 N/S aAc/aGc 1 1 STAB2 HGNC HGNC:18629 protein_coding YES CCDS31888.1 ENSP00000373539 Q8WWQ8 UPI00001ADDF4 NM_017564.9 deleterious(0.01) probably_damaging(0.998) 43/69 Gene3D:2.10.25.10,Pfam_domain:PF12947,PROSITE_profiles:PS50026,hmmpanther:PTHR24038,hmmpanther:PTHR24038:SF0,SMART_domains:SM00179,SMART_domains:SM00181,SMART_domains:SM00286,Superfamily_domains:SSF57196 MODERATE 1 SNV 1 PASS AAC . . 103715884 EFNB2 . GRCh38 chr13 106512790 106512790 + Missense_Mutation SNP C C A novel 7316-1772 BS_QYGZMWPC C C c.145G>T p.Val49Leu p.V49L ENST00000646441 2/5 95 88 5 26 26 0 EFNB2,missense_variant,p.Val49Leu,ENST00000646441,;EFNB2,missense_variant,p.Val49Leu,ENST00000245323,NM_004093.3;AL138689.2,intron_variant,,ENST00000646480,;AL138689.2,downstream_gene_variant,,ENST00000642447,;EFNB2,intron_variant,,ENST00000643990,; A ENSG00000125266 ENST00000646441 Transcript missense_variant 843/4995 145/1002 49/333 V/L Gta/Tta 1 -1 EFNB2 HGNC HGNC:3227 protein_coding YES CCDS9507.1 ENSP00000493716 UPI0000129C9B deleterious(0) benign(0.127) 2/5 cd10426,Gene3D:2.60.40.420,Pfam_domain:PF00812,Superfamily_domains:SSF49503,PROSITE_profiles:PS51551,hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304,Prints_domain:PR01347,blastprodom:PD002533 MODERATE 1 SNV PASS ACC . . 106512790 OR4K2 . GRCh38 chr14 19877187 19877187 + Missense_Mutation SNP A A T rs12883767 7316-1772 BS_QYGZMWPC A A c.920A>T p.Asn307Ile p.N307I ENST00000641885 2/2 123 75 48 68 58 10 OR4K2,missense_variant,p.Asn307Ile,ENST00000641885,;OR4K2,missense_variant,p.Asn307Ile,ENST00000298642,NM_001005501.1;OR4K2,intron_variant,,ENST00000641522,;OR4K2,intron_variant,,ENST00000641785,; T ENSG00000165762 ENST00000641885 Transcript missense_variant 1936/8681 920/945 307/314 N/I aAt/aTt rs12883767,COSM3753844 1 1 OR4K2 HGNC HGNC:14728 protein_coding YES CCDS32023.1 ENSP00000493007 Q8NGD2 A0A126GVP5 UPI0000041B4D tolerated(0.06) benign(0.14) 2/2 Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF260 0.2790 0.2239 0.2839 0.122 0.4742 0.3108 0.2243 0.3781 0,1 MODERATE 1 SNV 0,1 PASS AAT . . 0.3663 0.2643 0.2177 0.4329 0.09639 0.4667 0.4649 0.3903 0.3111 19877187 L2HGDH . GRCh38 chr14 50294250 50294251 + Splice_Region INS - - A rs368650202 7316-1772 BS_QYGZMWPC - - c.409-5dup ENST00000267436 67 49 14 28 26 0 L2HGDH,splice_region_variant,,ENST00000261699,;L2HGDH,splice_region_variant,,ENST00000267436,NM_024884.2;L2HGDH,splice_region_variant,,ENST00000421284,;L2HGDH,splice_region_variant,,ENST00000555423,;L2HGDH,splice_region_variant,,ENST00000555610,;L2HGDH,splice_region_variant,,ENST00000554191,; A ENSG00000087299 ENST00000267436 Transcript splice_region_variant,intron_variant rs368650202,TMP_ESP_14_50760969_50760969 1 -1 L2HGDH HGNC HGNC:20499 protein_coding YES CCDS9698.1 ENSP00000267436 Q9H9P8 UPI0000048F63 NM_024884.2 3/9 0.01759 0.01878 LOW 1 insertion 1 1 PASS TCA . . 0.03858 0.03004 0.06146 0.04488 0.03909 0.04115 0.02945 0.05452 0.0582 50294250 PSMA3 . GRCh38 chr14 58267484 58267485 + Frame_Shift_Ins INS - - GA novel 7316-1772 BS_QYGZMWPC - - c.555_556dup p.Thr186ArgfsTer13 p.T186Rfs*13 ENST00000216455 8/11 91 75 10 28 28 0 PSMA3,frameshift_variant,p.Thr186ArgfsTer13,ENST00000216455,NM_002788.3;PSMA3,frameshift_variant,p.Thr179ArgfsTer13,ENST00000412908,NM_152132.2;PSMA3,frameshift_variant,p.Thr111ArgfsTer13,ENST00000557508,;PSMA3,intron_variant,,ENST00000553677,;PSMA3-AS1,intron_variant,,ENST00000554360,;PSMA3-AS1,intron_variant,,ENST00000554378,;PSMA3-AS1,intron_variant,,ENST00000555162,;PSMA3-AS1,intron_variant,,ENST00000555275,;PSMA3-AS1,intron_variant,,ENST00000556002,;AL132989.1,intron_variant,,ENST00000557322,;PSMA3-AS1,downstream_gene_variant,,ENST00000555707,;ARMH4,intron_variant,,ENST00000554218,;PSMA3,3_prime_UTR_variant,,ENST00000557087,;PSMA3,3_prime_UTR_variant,,ENST00000555931,;PSMA3,non_coding_transcript_exon_variant,,ENST00000554812,;PSMA3,non_coding_transcript_exon_variant,,ENST00000555743,;PSMA3,non_coding_transcript_exon_variant,,ENST00000554207,;PSMA3,upstream_gene_variant,,ENST00000557290,; GA ENSG00000100567 ENST00000216455 Transcript frameshift_variant 644-645/970 554-555/768 185/255 M/MX atg/atGAg 1 1 PSMA3 HGNC HGNC:9532 protein_coding YES CCDS9731.1 ENSP00000216455 P25788 A0A140VK43 UPI000000D961 NM_002788.3 8/11 PROSITE_profiles:PS51475,cd03751,hmmpanther:PTHR11599:SF10,hmmpanther:PTHR11599,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235 HIGH 1 insertion 1 2 PASS ATG . . 58267484 DACT1 . GRCh38 chr14 58645567 58645567 + Missense_Mutation SNP A A T novel 7316-1772 BS_QYGZMWPC A A c.944A>T p.Lys315Ile p.K315I ENST00000335867 4/4 63 50 10 30 28 0 DACT1,missense_variant,p.Lys278Ile,ENST00000395153,NM_001079520.1;DACT1,missense_variant,p.Lys34Ile,ENST00000541264,;DACT1,missense_variant,p.Lys315Ile,ENST00000335867,NM_016651.5;DACT1,missense_variant,p.Lys34Ile,ENST00000556859,;DACT1,missense_variant,p.Lys34Ile,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,; T ENSG00000165617 ENST00000335867 Transcript missense_variant 968/2571 944/2511 315/836 K/I aAa/aTa 1 1 DACT1 HGNC HGNC:17748 protein_coding YES CCDS9736.1 ENSP00000337439 Q9NYF0 UPI000013E4D3 NM_016651.5 deleterious(0) probably_damaging(0.932) 4/4 Pfam_domain:PF15268,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12 MODERATE 1 SNV 1 1 PASS AAA . . 58645567 RYR3 . GRCh38 chr15 33662148 33662148 + Splice_Region SNP C C T novel 7316-1772 BS_QYGZMWPC C C c.4623-5C>T ENST00000634891 48 42 6 40 40 0 RYR3,splice_region_variant,,ENST00000389232,;RYR3,splice_region_variant,,ENST00000415757,NM_001243996.2;RYR3,splice_region_variant,,ENST00000622037,;RYR3,splice_region_variant,,ENST00000634418,;RYR3,splice_region_variant,,ENST00000634891,NM_001036.4; T ENSG00000198838 ENST00000634891 Transcript splice_region_variant,intron_variant 1 1 RYR3 HGNC HGNC:10485 protein_coding YES CCDS45210.1 ENSP00000489262 Q15413 UPI0000E5B01A NM_001036.4 34/103 LOW 1 SNV 1 1 PASS CCT . . 33662148 SPINT1-AS1 . GRCh38 chr15 40836288 40836289 + Splice_Region DEL AG AG - rs369503962 7316-1772 BS_QYGZMWPC AG AG n.354-7_354-6del ENST00000564302 67 52 6 35 35 0 SPINT1-AS1,splice_region_variant,,ENST00000564302,;SPINT1-AS1,splice_region_variant,,ENST00000565315,;SPINT1-AS1,splice_region_variant,,ENST00000568419,;SPINT1-AS1,downstream_gene_variant,,ENST00000563217,;SPINT1-AS1,downstream_gene_variant,,ENST00000568525,; - ENSG00000261183 ENST00000564302 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs369503962 1 -1 SPINT1-AS1 HGNC HGNC:53162 antisense YES 2/2 LOW 1 deletion 2 PASS AAAGA . . 40836287 ACSM5 . GRCh38 chr16 20419410 20419410 + Missense_Mutation SNP T T A novel 7316-1772 BS_QYGZMWPC T T c.598T>A p.Trp200Arg p.W200R ENST00000331849 4/14 69 64 5 35 35 0 ACSM5,missense_variant,p.Trp200Arg,ENST00000331849,NM_001324371.1,NM_001324372.1,NM_017888.2;ACSM5,missense_variant,p.Trp200Arg,ENST00000575584,NM_001324373.1;ACSM5,upstream_gene_variant,,ENST00000570305,;ACSM5,upstream_gene_variant,,ENST00000573920,;ACSM5,upstream_gene_variant,,ENST00000574748,; A ENSG00000183549 ENST00000331849 Transcript missense_variant 745/2796 598/1740 200/579 W/R Tgg/Agg 1 1 ACSM5 HGNC HGNC:26060 protein_coding YES CCDS10585.1 ENSP00000327916 Q6NUN0 UPI00001FEFB3 NM_001324371.1,NM_001324372.1,NM_017888.2 deleterious(0) probably_damaging(1) 4/14 Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR43605,hmmpanther:PTHR43605:SF6,Superfamily_domains:SSF56801,cd05928 MODERATE 1 SNV 1 PASS CTG . . 20419410 TP53 . GRCh38 chr17 7675200 7675200 + Missense_Mutation SNP C C T 7316-1772 BS_QYGZMWPC C C c.412G>A p.Ala138Thr p.A138T ENST00000269305 5/11 47 22 25 35 35 0 TP53,missense_variant,p.Ala138Thr,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Ala138Thr,ENST00000420246,;TP53,missense_variant,p.Ala99Thr,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Ala99Thr,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Ala138Thr,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Ala99Thr,ENST00000610538,;TP53,missense_variant,p.Ala138Thr,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,missense_variant,p.Ala99Thr,ENST00000620739,;TP53,missense_variant,p.Ala138Thr,ENST00000445888,;TP53,missense_variant,p.Ala99Thr,ENST00000619485,;TP53,missense_variant,p.Ala6Thr,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,missense_variant,p.Ala6Thr,ENST00000504290,;TP53,missense_variant,p.Ala6Thr,ENST00000504937,;TP53,missense_variant,p.Ala138Thr,ENST00000359597,;TP53,missense_variant,p.Ala127Thr,ENST00000615910,;TP53,missense_variant,p.Ala138Thr,ENST00000413465,;TP53,missense_variant,p.Ala6Thr,ENST00000509690,;TP53,missense_variant,p.Ala138Thr,ENST00000508793,;TP53,missense_variant,p.Ala131Thr,ENST00000604348,;TP53,missense_variant,p.Ala45Thr,ENST00000514944,;TP53,5_prime_UTR_variant,,ENST00000618944,;TP53,5_prime_UTR_variant,,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,5_prime_UTR_variant,,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Ala99Thr,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,; T ENSG00000141510 ENST00000269305 Transcript missense_variant 602/2579 412/1182 138/393 A/T Gcc/Acc CM942116,CM983475,TP53_g.12400G>A,COSM44821,COSM44508,COSM44280,COSM4139889,COSM3403289,COSM3403288,COSM3403287,COSM3403286,COSM3403285,COSM3403284,COSM2744944,COSM129863,COSM129862,COSM129861,COSM129860,COSM11188 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 deleterious(0) probably_damaging(0.992) 5/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 MODERATE 1 SNV 1 1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS GCC . . 7675200 LINC01992 . GRCh38 chr17 27930730 27930730 + Splice_Region SNP C C A novel 7316-1772 BS_QYGZMWPC C C n.294-5G>T ENST00000567574 70 58 10 41 41 0 LINC01992,splice_region_variant,,ENST00000567574,; A ENSG00000260019 ENST00000567574 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 LINC01992 HGNC HGNC:52824 lincRNA YES 2/3 LOW 1 SNV 1 PASS CCA . . 27930730 MED24 . GRCh38 chr17 40053333 40053333 + Missense_Mutation SNP T T C novel 7316-1772 BS_QYGZMWPC T T c.178A>G p.Ile60Val p.I60V ENST00000501516 2/26 91 62 27 25 24 1 MED24,missense_variant,p.Ile85Val,ENST00000394126,;MED24,missense_variant,p.Ile60Val,ENST00000394128,NM_014815.3;MED24,missense_variant,p.Ile60Val,ENST00000394127,NM_001079518.1;MED24,missense_variant,p.Ile60Val,ENST00000356271,NM_001267797.1;MED24,missense_variant,p.Ile60Val,ENST00000501516,;MED24,missense_variant,p.Ile10Val,ENST00000535071,;MED24,missense_variant,p.Ile85Val,ENST00000428757,;MED24,missense_variant,p.Ile85Val,ENST00000543759,;MED24,missense_variant,p.Ile60Val,ENST00000585306,;MED24,missense_variant,p.Ile106Val,ENST00000582023,;MED24,missense_variant,p.Ile85Val,ENST00000578161,;MED24,missense_variant,p.Ile85Val,ENST00000580517,;MED24,missense_variant,p.Ile85Val,ENST00000537674,;MED24,missense_variant,p.Ile60Val,ENST00000614384,;MED24,intron_variant,,ENST00000580885,;THRA,upstream_gene_variant,,ENST00000577288,;MED24,downstream_gene_variant,,ENST00000580302,;MED24,non_coding_transcript_exon_variant,,ENST00000479829,;MED24,missense_variant,p.Ile60Val,ENST00000535508,;MED24,missense_variant,p.Ile16Val,ENST00000578901,;MED24,non_coding_transcript_exon_variant,,ENST00000581054,;MED24,upstream_gene_variant,,ENST00000580008,; C ENSG00000008838 ENST00000501516 Transcript missense_variant 188/3037 178/3027 60/1008 I/V Atc/Gtc 1 -1 MED24 HGNC HGNC:22963 protein_coding YES CCDS82117.1 ENSP00000440100 F5GY88 UPI0000E24786 tolerated(0.73) benign(0.202) 2/26 Pfam_domain:PF11277,hmmpanther:PTHR12898 MODERATE 1 SNV 5 PASS ATG . . 40053333 CNTNAP1 . GRCh38 chr17 42690920 42690920 + Missense_Mutation SNP T T A novel 7316-1772 BS_QYGZMWPC T T c.2037T>A p.Asn679Lys p.N679K ENST00000264638 13/24 67 59 7 32 30 0 CNTNAP1,missense_variant,p.Asn679Lys,ENST00000264638,NM_003632.2;AC100793.3,intron_variant,,ENST00000592440,;CNTNAP1,missense_variant,p.Asn679Lys,ENST00000591662,;CNTNAP1,non_coding_transcript_exon_variant,,ENST00000585534,;CNTNAP1,downstream_gene_variant,,ENST00000586801,; A ENSG00000108797 ENST00000264638 Transcript missense_variant 2254/5276 2037/4155 679/1384 N/K aaT/aaA 1 1 CNTNAP1 HGNC HGNC:8011 protein_coding YES CCDS11436.1 ENSP00000264638 P78357 UPI00001285F6 NM_003632.2 tolerated(0.87) benign(0.007) 13/24 hmmpanther:PTHR43925:SF5,hmmpanther:PTHR43925,Gene3D:2.60.120.200 MODERATE 1 SNV 1 1 PASS ATT . . 42690920 GALNT1 . GRCh38 chr18 35692328 35692329 + Splice_Region DEL AT AT - rs201969184 7316-1772 BS_QYGZMWPC AT AT c.1299+22_1299+23del ENST00000269195 63 54 5 27 25 0 GALNT1,splice_region_variant,,ENST00000269195,NM_020474.3;GALNT1,splice_region_variant,,ENST00000590654,;GALNT1,intron_variant,,ENST00000589189,; - ENSG00000141429 ENST00000269195 Transcript splice_region_variant,intron_variant rs201969184,COSM1721977 1 1 GALNT1 HGNC HGNC:4123 protein_coding YES CCDS11915.1 ENSP00000269195 Q10472 A0A024RC48 UPI00001311FC NM_020474.3 8/10 0.1763 0.2003 0,1 LOW 1 deletion 1 14 0,1 PASS AAATA . . 0.1212 0.1145 0.1078 0.0933 0.1071 0.1211 0.1294 0.09838 0.1286 35692327 SLC14A2 . GRCh38 chr18 45641211 45641211 + Missense_Mutation SNP C C A novel 7316-1772 BS_QYGZMWPC C C c.994C>A p.Leu332Met p.L332M ENST00000255226 8/20 55 39 14 35 34 0 SLC14A2,missense_variant,p.Leu332Met,ENST00000255226,NM_007163.3;SLC14A2,missense_variant,p.Leu332Met,ENST00000586448,NM_001242692.1;AC023421.1,upstream_gene_variant,,ENST00000590535,;SLC14A2,splice_region_variant,,ENST00000323329,; A ENSG00000132874 ENST00000255226 Transcript missense_variant,splice_region_variant 1810/4746 994/2763 332/920 L/M Ctg/Atg 1 1 SLC14A2 HGNC HGNC:10919 protein_coding YES CCDS11924.1 ENSP00000255226 Q15849 UPI000013CE99 NM_007163.3 deleterious(0.03) probably_damaging(0.993) 8/20 hmmpanther:PTHR10464,hmmpanther:PTHR10464:SF6,Pfam_domain:PF03253,Gene3D:1.10.3430.10 MODERATE 1 SNV 1 PASS CCT . . 45641211 LIPG . GRCh38 chr18 49575501 49575501 + Missense_Mutation SNP C C A novel 7316-1772 BS_QYGZMWPC C C c.704C>A p.Pro235His p.P235H ENST00000261292 5/10 72 42 29 43 41 1 LIPG,missense_variant,p.Pro235His,ENST00000261292,NM_006033.3;LIPG,missense_variant,p.Pro271His,ENST00000577628,;LIPG,missense_variant,p.Pro235His,ENST00000580036,;LIPG,intron_variant,,ENST00000427224,NM_001308006.1; A ENSG00000101670 ENST00000261292 Transcript missense_variant 982/10441 704/1503 235/500 P/H cCt/cAt 1 1 LIPG HGNC HGNC:6623 protein_coding YES CCDS11938.1 ENSP00000261292 Q9Y5X9 A0A024R2B5 UPI000012E706 NM_006033.3 deleterious(0) probably_damaging(0.999) 5/10 cd00707,hmmpanther:PTHR11610:SF13,hmmpanther:PTHR11610,PIRSF_domain:PIRSF000865,Pfam_domain:PF00151,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474,Prints_domain:PR00822 MODERATE 1 SNV 1 PASS CCT . . 49575501 ONECUT2 . GRCh38 chr18 57436245 57436247 + In_Frame_Del DEL CAC CAC - rs754547742 7316-1772 BS_QYGZMWPC CAC CAC c.552_554del p.His184del p.H184del ENST00000491143 1/2 61 49 5 23 20 0 ONECUT2,inframe_deletion,p.His184del,ENST00000491143,NM_004852.2;AC090340.1,downstream_gene_variant,,ENST00000620778,; - ENSG00000119547 ENST00000491143 Transcript inframe_deletion 561-563/16121 529-531/1515 177/504 H/- CAC/- rs754547742,TMP_ESP_18_55103477_55103479,COSM438241 1 1 ONECUT2 HGNC HGNC:8139 protein_coding YES CCDS42440.1 ENSP00000419185 O95948 UPI0000201DC1 NM_004852.2 1/2 hmmpanther:PTHR14057,hmmpanther:PTHR14057:SF10,mobidb-lite,Low_complexity_(Seg):seg 0.07095 0.08653 0,0,1 MODERATE 1 deletion 1 23 0,0,1 PASS CGCACC . . 0.006743 0.008148 0.004318 0.002457 0.005899 0.009598 0.008262 0.003411 0.004862 57436244 ATP1A3 . GRCh38 chr19 41985359 41985359 + Missense_Mutation SNP T T C novel 7316-1772 BS_QYGZMWPC T T c.710A>G p.Asp237Gly p.D237G ENST00000545399 7/23 63 56 5 29 29 0 ATP1A3,missense_variant,p.Asp237Gly,ENST00000545399,NM_001256214.1;ATP1A3,missense_variant,p.Asp224Gly,ENST00000302102,NM_152296.4;ATP1A3,missense_variant,p.Asp194Gly,ENST00000602133,;ATP1A3,missense_variant,p.Asp235Gly,ENST00000543770,NM_001256213.1;ATP1A3,missense_variant,p.Asp194Gly,ENST00000473086,;ATP1A3,downstream_gene_variant,,ENST00000636197,;ATP1A3,downstream_gene_variant,,ENST00000468774,;ATP1A3,downstream_gene_variant,,ENST00000636258,;ATP1A3,downstream_gene_variant,,ENST00000636282,;ATP1A3,downstream_gene_variant,,ENST00000637406,;ATP1A3,missense_variant,p.Asp224Gly,ENST00000441343,;AC010616.2,missense_variant,p.Asp224Gly,ENST00000644613,;ATP1A3,non_coding_transcript_exon_variant,,ENST00000645448,;ATP1A3,downstream_gene_variant,,ENST00000465007,;ATP1A3,upstream_gene_variant,,ENST00000485672,; C ENSG00000105409 ENST00000545399 Transcript missense_variant 904/3628 710/3081 237/1026 D/G gAc/gGc 1 -1 ATP1A3 HGNC HGNC:801 protein_coding YES CCDS58664.1 ENSP00000444688 P13637 UPI0001914BDE NM_001256214.1 deleterious(0.01) benign(0.015) 7/23 Gene3D:2.70.150.10,Pfam_domain:PF00122,hmmpanther:PTHR43294,hmmpanther:PTHR43294:SF11,Superfamily_domains:SSF81653,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494,cd02608 MODERATE 1 SNV 2 1 PASS GTC . . 41985359 TSEN34 . GRCh38 chr19 54192149 54192149 + Missense_Mutation SNP G G C rs1463790091 7316-1772 BS_QYGZMWPC G G c.530G>C p.Gly177Ala p.G177A ENST00000429671 4/6 43 36 6 24 24 0 TSEN34,missense_variant,p.Gly174Ala,ENST00000302937,NM_024075.4;TSEN34,missense_variant,p.Gly177Ala,ENST00000429671,NM_001282333.1;TSEN34,missense_variant,p.Gly174Ala,ENST00000396383,NM_001282332.1;TSEN34,missense_variant,p.Gly174Ala,ENST00000396388,NM_001077446.3;TSEN34,missense_variant,p.Gly174Ala,ENST00000455798,;TSEN34,missense_variant,p.Gly177Ala,ENST00000456872,;MBOAT7,upstream_gene_variant,,ENST00000245615,NM_024298.4;MBOAT7,upstream_gene_variant,,ENST00000338624,NM_001146056.2;MBOAT7,upstream_gene_variant,,ENST00000391754,NM_001146082.2;MBOAT7,upstream_gene_variant,,ENST00000414665,;MBOAT7,upstream_gene_variant,,ENST00000431666,NM_001146083.2;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;TSEN34,non_coding_transcript_exon_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000437868,;MBOAT7,upstream_gene_variant,,ENST00000464098,;MBOAT7,upstream_gene_variant,,ENST00000491216,; C ENSG00000170892 ENST00000429671 Transcript missense_variant 629/1912 530/948 177/315 G/A gGg/gCg rs1463790091 1 1 TSEN34 HGNC HGNC:15506 protein_coding YES CCDS74446.1 ENSP00000397402 E7EQB3 UPI000387D582 NM_001282333.1 tolerated(0.1) benign(0.005) 4/6 mobidb-lite,hmmpanther:PTHR13070,PIRSF_domain:PIRSF017250 MODERATE SNV 2 1 PASS GGG . . 4.081e-06 6.542e-05 54192149 GPCPD1 . GRCh38 chr20 5567482 5567482 + Splice_Site SNP C C T rs775166031 7316-1772 BS_QYGZMWPC C C c.1227+1G>A p.X409_splice ENST00000379019 75 67 5 48 43 0 GPCPD1,splice_donor_variant,,ENST00000379019,NM_019593.3;GPCPD1,intron_variant,,ENST00000418646,;GPCPD1,splice_donor_variant,,ENST00000481038,;GPCPD1,splice_donor_variant,,ENST00000633552,;GPCPD1,downstream_gene_variant,,ENST00000473797,; T ENSG00000125772 ENST00000379019 Transcript splice_donor_variant rs775166031 1 -1 GPCPD1 HGNC HGNC:26957 protein_coding YES CCDS13090.1 ENSP00000368305 Q9NPB8 UPI0000062241 NM_019593.3 13/19 HIGH 1 SNV 1 PASS ACC . . 4.784e-06 9.873e-06 5567482 SUSD2 . GRCh38 chr22 24183081 24183081 + Missense_Mutation SNP G G A rs62231981 7316-1772 BS_QYGZMWPC G G c.101G>A p.Arg34His p.R34H ENST00000358321 2/15 68 52 16 35 35 0 SUSD2,missense_variant,p.Arg34His,ENST00000358321,NM_019601.3;CABIN1,downstream_gene_variant,,ENST00000263119,NM_012295.3;CABIN1,downstream_gene_variant,,ENST00000337989,;CABIN1,downstream_gene_variant,,ENST00000398319,NM_001199281.1;CABIN1,downstream_gene_variant,,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000617531,NM_001201429.1;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,; A ENSG00000099994 ENST00000358321 Transcript missense_variant 362/3404 101/2469 34/822 R/H cGc/cAc rs62231981,COSM1178084 1 1 SUSD2 HGNC HGNC:30667 protein_coding YES CCDS13824.1 ENSP00000351075 Q9UGT4 A0A140VJW3 UPI000006CC92 NM_019601.3 tolerated(0.08) benign(0.133) 2/15 PROSITE_profiles:PS50958,hmmpanther:PTHR13802:SF43,hmmpanther:PTHR13802,Pfam_domain:PF01033,Superfamily_domains:SSF90188 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.4722 0.3229 0.4827 0.4869 0.4767 0.4939 0.4844 0.4738 0.4554 24183081 SUSD2 . GRCh38 chr22 24183189 24183189 + Missense_Mutation SNP G G T rs79232038 7316-1772 BS_QYGZMWPC G G c.209G>T p.Gly70Val p.G70V ENST00000358321 2/15 66 57 9 24 24 0 SUSD2,missense_variant,p.Gly70Val,ENST00000358321,NM_019601.3;CABIN1,downstream_gene_variant,,ENST00000263119,NM_012295.3;CABIN1,downstream_gene_variant,,ENST00000337989,;CABIN1,downstream_gene_variant,,ENST00000398319,NM_001199281.1;CABIN1,downstream_gene_variant,,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000617531,NM_001201429.1;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,; T ENSG00000099994 ENST00000358321 Transcript missense_variant 470/3404 209/2469 70/822 G/V gGa/gTa rs79232038,COSM1180264 1 1 SUSD2 HGNC HGNC:30667 protein_coding YES CCDS13824.1 ENSP00000351075 Q9UGT4 A0A140VJW3 UPI000006CC92 NM_019601.3 deleterious(0) probably_damaging(0.999) 2/15 hmmpanther:PTHR13802:SF43,hmmpanther:PTHR13802,Gene3D:2.60.40.10,Superfamily_domains:SSF90188 0,1 MODERATE 1 SNV 1 0,1 PASS GGA . . 0.4173 0.1992 0.4263 0.4221 0.4445 0.4588 0.447 0.4113 0.3474 24183189 STARD8 . GRCh38 chrX 68718602 68718602 + Missense_Mutation SNP T T C novel 7316-1772 BS_QYGZMWPC T T c.1688T>C p.Val563Ala p.V563A ENST00000374599 6/15 42 37 5 15 15 0 STARD8,missense_variant,p.Val483Ala,ENST00000252336,NM_014725.4;STARD8,missense_variant,p.Val563Ala,ENST00000374599,NM_001142503.2;STARD8,missense_variant,p.Val483Ala,ENST00000374597,NM_001142504.2;STARD8,3_prime_UTR_variant,,ENST00000523864,; C ENSG00000130052 ENST00000374599 Transcript missense_variant 1803/4841 1688/3312 563/1103 V/A gTt/gCt 1 1 STARD8 HGNC HGNC:19161 protein_coding YES CCDS48134.1 ENSP00000363727 Q92502 UPI00002122B9 NM_001142503.2 deleterious(0) possibly_damaging(0.729) 6/15 hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF3,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 68718602 RLIM . GRCh38 chrX 74591904 74591904 + Missense_Mutation SNP A A G rs201164156 7316-1772 BS_QYGZMWPC A A c.1411T>C p.Ser471Pro p.S471P ENST00000332687 4/4 43 37 6 21 20 0 RLIM,missense_variant,p.Ser471Pro,ENST00000332687,NM_016120.3;RLIM,missense_variant,p.Ser471Pro,ENST00000349225,NM_183353.2; G ENSG00000131263 ENST00000332687 Transcript missense_variant 1630/8317 1411/1875 471/624 S/P Tca/Cca rs201164156,COSM2155575 1 -1 RLIM HGNC HGNC:13429 protein_coding YES CCDS14427.1 ENSP00000328059 Q9NVW2 UPI000006FD6A NM_016120.3 tolerated(0.26) benign(0.1) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155 0,1 MODERATE 1 SNV 1 0,1 1 PASS GAA . . 0.02121 0.00867 0.0242 0.05187 0.006192 0.02555 0.02201 0.03095 0.01626 74591904 RPL10 . GRCh38 chrX 154400837 154400837 + Missense_Mutation SNP C C T rs979369776 7316-1772 BS_QYGZMWPC C C c.628C>T p.Arg210Trp p.R210W ENST00000424325 7/7 46 38 8 20 19 0 RPL10,missense_variant,p.Arg210Trp,ENST00000424325,NM_001303625.1,NM_006013.4;RPL10,missense_variant,p.Arg210Trp,ENST00000344746,NM_001303626.1,NM_001303624.1;RPL10,missense_variant,p.Arg174Trp,ENST00000618723,NM_001256580.2;RPL10,missense_variant,p.Arg210Trp,ENST00000369817,;RPL10,missense_variant,p.Arg159Trp,ENST00000406022,;RPL10,synonymous_variant,p.Gly155=,ENST00000458500,NM_001256577.2;RPL10,intron_variant,,ENST00000427682,;RPL10,intron_variant,,ENST00000428169,;RPL10,intron_variant,,ENST00000449494,;RPL10,intron_variant,,ENST00000451365,;DNASE1L1,downstream_gene_variant,,ENST00000014935,;DNASE1L1,downstream_gene_variant,,ENST00000309585,NM_001009933.2;DNASE1L1,downstream_gene_variant,,ENST00000369807,NM_001303620.1;DNASE1L1,downstream_gene_variant,,ENST00000369808,NM_006730.3;DNASE1L1,downstream_gene_variant,,ENST00000369809,NM_001009932.2;DNASE1L1,downstream_gene_variant,,ENST00000393638,NM_001009934.2;DNASE1L1,downstream_gene_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000424626,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000436473,;DNASE1L1,downstream_gene_variant,,ENST00000447892,;DNASE1L1,downstream_gene_variant,,ENST00000451865,;SNORA70,downstream_gene_variant,,ENST00000384436,;AC245140.2,upstream_gene_variant,,ENST00000624054,;RPL10,downstream_gene_variant,,ENST00000479366,;RPL10,non_coding_transcript_exon_variant,,ENST00000482732,;RPL10,non_coding_transcript_exon_variant,,ENST00000492572,;RPL10,non_coding_transcript_exon_variant,,ENST00000489200,;RPL10,non_coding_transcript_exon_variant,,ENST00000491035,;RPL10,non_coding_transcript_exon_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000485196,;DNASE1L1,downstream_gene_variant,,ENST00000497242,; T ENSG00000147403 ENST00000424325 Transcript missense_variant 816/2318 628/645 210/214 R/W Cgg/Tgg rs979369776,COSM5793483 1 1 RPL10 HGNC HGNC:10298 protein_coding YES CCDS14746.1 ENSP00000413436 P27635 X5D2T3 UPI0000144CE2 NM_001303625.1,NM_006013.4 tolerated(0.31) benign(0) 7/7 hmmpanther:PTHR11726,hmmpanther:PTHR11726:SF11 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 154400837 TMSB4Y . GRCh38 chrY 13705236 13705236 + Missense_Mutation SNP G G C novel 7316-1772 BS_QYGZMWPC G G c.112G>C p.Glu38Gln p.E38Q ENST00000284856 2/2 34 11 23 19 19 0 TMSB4Y,missense_variant,p.Glu38Gln,ENST00000284856,NM_004202.2; C ENSG00000154620 ENST00000284856 Transcript missense_variant 881/1669 112/135 38/44 E/Q Gag/Cag 1 1 TMSB4Y HGNC HGNC:11882 protein_coding YES CCDS14786.1 ENSP00000284856 O14604 UPI0000001073 NM_004202.2 deleterious(0.02) probably_damaging(0.96) 2/2 Gene3D:1.20.5.520,blastprodom:PD005116,Pfam_domain:PF01290,PIRSF_domain:PIRSF001828,hmmpanther:PTHR12021,hmmpanther:PTHR12021:SF15,SMART_domains:SM00152,mobidb-lite MODERATE 1 SNV 1 PASS GGA . . 13705236 CHD5 . GRCh38 chr1 6124046 6124046 + Missense_Mutation SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.4601C>A p.Pro1534His p.P1534H ENST00000262450 31/42 61 54 7 26 26 0 CHD5,missense_variant,p.Pro1534His,ENST00000262450,NM_015557.2;CHD5,missense_variant,p.Pro917His,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;CHD5,intron_variant,,ENST00000496404,;CHD5,downstream_gene_variant,,ENST00000491020,; T ENSG00000116254 ENST00000262450 Transcript missense_variant 4701/9646 4601/5865 1534/1954 P/H cCc/cAc 1 -1 CHD5 HGNC HGNC:16816 protein_coding YES CCDS57.1 ENSP00000262450 Q8TDI0 UPI000006CD03 NM_015557.2 tolerated(0.11) benign(0.135) 31/42 hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,mobidb-lite MODERATE 1 SNV 1 PASS GGG . . 6124046 PER3 . GRCh38 chr1 7829993 7829993 + Missense_Mutation SNP G G A rs1776342 7316-333 BS_YVRSCEC6 G G c.3046G>A p.Ala1016Thr p.A1016T ENST00000613533 19/22 34 24 7 42 36 1 PER3,missense_variant,p.Ala1016Thr,ENST00000613533,NM_001289862.1;PER3,missense_variant,p.Ala1016Thr,ENST00000377532,;PER3,missense_variant,p.Ala1007Thr,ENST00000361923,NM_016831.2;PER3,intron_variant,,ENST00000614998,NM_001289864.1,NM_001289863.1,NM_001289861.1;Z98884.1,upstream_gene_variant,,ENST00000451646,; A ENSG00000049246 ENST00000613533 Transcript missense_variant 3310/6318 3046/3633 1016/1210 A/T Gct/Act rs1776342,COSM1134947 1 1 PER3 HGNC HGNC:8847 protein_coding YES CCDS72695.1 ENSP00000482093 P56645 UPI00003664CA NM_001289862.1 tolerated_low_confidence(0.54) benign(0.043) 19/22 mobidb-lite 0,1 MODERATE SNV 5 0,1 1 PASS CGC . . 9.582e-06 0.0001104 3.792e-05 7829993 AKR7A2 . GRCh38 chr1 19311862 19311862 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.263G>A p.Gly88Asp p.G88D ENST00000235835 1/7 70 55 13 39 39 0 AKR7A2,missense_variant,p.Gly88Asp,ENST00000235835,NM_003689.3;AKR7A2,missense_variant,p.Gly78Asp,ENST00000330072,NM_001320979.1;AKR7A2,missense_variant,p.Gly16Asp,ENST00000489286,;PQLC2,upstream_gene_variant,,ENST00000375153,NM_001040125.1;PQLC2,upstream_gene_variant,,ENST00000375155,NM_017765.2;PQLC2,upstream_gene_variant,,ENST00000400548,NM_001040126.1,NM_001287531.1;AKR7A2,non_coding_transcript_exon_variant,,ENST00000492217,;PQLC2,upstream_gene_variant,,ENST00000469076,;AKR7A2,upstream_gene_variant,,ENST00000481966,;PQLC2,upstream_gene_variant,,ENST00000497827,;,regulatory_region_variant,,ENSR00000002425,; T ENSG00000053371 ENST00000235835 Transcript missense_variant 285/1362 263/1080 88/359 G/D gGc/gAc 1 -1 AKR7A2 HGNC HGNC:389 protein_coding YES CCDS194.1 ENSP00000235835 O43488 V9HWA2 UPI00001D965B NM_003689.3 tolerated(0.18) benign(0.013) 1/7 PDB-ENSP_mappings:2bp1.A,PDB-ENSP_mappings:2bp1.B,PDB-ENSP_mappings:2bp1.C,PDB-ENSP_mappings:2bp1.D,Low_complexity_(Seg):seg,cd06660,hmmpanther:PTHR43625:SF12,hmmpanther:PTHR43625,Pfam_domain:PF00248,Gene3D:3.20.20.100,Superfamily_domains:SSF51430 MODERATE 1 SNV 1 PASS GCC . . 19311862 ZNF436 . GRCh38 chr1 23362471 23362471 + Missense_Mutation SNP C C T rs1208726123 7316-333 BS_YVRSCEC6 C C c.911G>A p.Arg304Lys p.R304K ENST00000314011 4/4 77 66 6 44 44 0 ZNF436,missense_variant,p.Arg304Lys,ENST00000314011,NM_001077195.1;ZNF436,missense_variant,p.Arg304Lys,ENST00000374608,NM_030634.2; T ENSG00000125945 ENST00000314011 Transcript missense_variant 1048/4071 911/1413 304/470 R/K aGg/aAg rs1208726123 1 -1 ZNF436 HGNC HGNC:20814 protein_coding YES CCDS233.1 ENSP00000313582 Q9C0F3 A0A024RAF3 UPI0000001669 NM_001077195.1 tolerated(1) benign(0.033) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR45201,Gene3D:3.30.160.60,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CCT . . 23362471 MAP3K6 . GRCh38 chr1 27356589 27356589 + Splice_Site SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.3524+1G>A p.X1175_splice ENST00000493901 73 49 24 42 40 0 MAP3K6,splice_donor_variant,,ENST00000357582,;MAP3K6,splice_donor_variant,,ENST00000374040,NM_001297609.1;MAP3K6,splice_donor_variant,,ENST00000493901,NM_004672.4;MAP3K6,intron_variant,,ENST00000472410,;SYTL1,downstream_gene_variant,,ENST00000318074,NM_032872.2;MAP3K6,upstream_gene_variant,,ENST00000486046,;SYTL1,downstream_gene_variant,,ENST00000543823,;SYTL1,downstream_gene_variant,,ENST00000616558,NM_001193308.1;SYTL1,downstream_gene_variant,,ENST00000618673,;MAP3K6,splice_donor_variant,,ENST00000470890,;SYTL1,downstream_gene_variant,,ENST00000475199,;MAP3K6,downstream_gene_variant,,ENST00000476509,;SYTL1,downstream_gene_variant,,ENST00000483926,;SYTL1,downstream_gene_variant,,ENST00000490170,;MAP3K6,downstream_gene_variant,,ENST00000495230,;SYTL1,downstream_gene_variant,,ENST00000615284,;,regulatory_region_variant,,ENSR00000003701,; T ENSG00000142733 ENST00000493901 Transcript splice_donor_variant 1 -1 MAP3K6 HGNC HGNC:6858 protein_coding YES CCDS299.1 ENSP00000419591 O95382 UPI0000205587 NM_004672.4 26/29 HIGH SNV 5 1 PASS ACC . . 27356589 WDR63 . GRCh38 chr1 85121744 85121744 + Splice_Region DEL T T - novel 7316-333 BS_YVRSCEC6 T T c.1918-3del ENST00000294664 98 67 25 45 42 0 WDR63,splice_region_variant,,ENST00000294664,NM_145172.4;WDR63,splice_region_variant,,ENST00000326813,NM_001288563.1;WDR63,splice_region_variant,,ENST00000370596,;WDR63,upstream_gene_variant,,ENST00000484007,;WDR63,splice_region_variant,,ENST00000464801,; - ENSG00000162643 ENST00000294664 Transcript splice_region_variant,intron_variant 1 1 WDR63 HGNC HGNC:30711 protein_coding YES CCDS702.1 ENSP00000294664 Q8IWG1 A0A140VJZ8 UPI00000744F1 NM_145172.4 17/22 LOW 1 deletion 1 4 PASS TATT . . 85121743 ABCA4 . GRCh38 chr1 94021295 94021295 + Missense_Mutation SNP T T A novel 7316-333 BS_YVRSCEC6 T T c.4963A>T p.Thr1655Ser p.T1655S ENST00000370225 35/50 100 71 28 46 45 0 ABCA4,missense_variant,p.Thr1655Ser,ENST00000370225,NM_000350.2;ABCA4,missense_variant,p.Thr447Ser,ENST00000536513,;ABCA4,non_coding_transcript_exon_variant,,ENST00000460514,;ABCA4,non_coding_transcript_exon_variant,,ENST00000470771,;,regulatory_region_variant,,ENSR00000010039,; A ENSG00000198691 ENST00000370225 Transcript missense_variant 5050/7309 4963/6822 1655/2273 T/S Acc/Tcc 1 -1 ABCA4 HGNC HGNC:34 protein_coding YES CCDS747.1 ENSP00000359245 P78363 UPI000012511C NM_000350.2 tolerated(0.15) possibly_damaging(0.518) 35/50 Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF190,TIGRFAM_domain:TIGR01257 MODERATE 1 SNV 1 1 PASS GTG . . 94021295 CA14 . GRCh38 chr1 150261645 150261645 + Splice_Region SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.256+7G>A ENST00000369111 84 72 12 47 45 0 CA14,splice_region_variant,,ENST00000369111,NM_012113.2;APH1A,downstream_gene_variant,,ENST00000236017,;APH1A,downstream_gene_variant,,ENST00000360244,NM_016022.3,NM_001243771.1;APH1A,downstream_gene_variant,,ENST00000369109,NM_001077628.2;APH1A,downstream_gene_variant,,ENST00000414276,NM_001243772.1;CA14,upstream_gene_variant,,ENST00000607082,;AC242988.1,upstream_gene_variant,,ENST00000611044,;APH1A,downstream_gene_variant,,ENST00000461320,;CA14,splice_region_variant,,ENST00000483993,;CA14,splice_region_variant,,ENST00000607652,;CA14,downstream_gene_variant,,ENST00000582010,; A ENSG00000118298 ENST00000369111 Transcript splice_region_variant,intron_variant 1 1 CA14 HGNC HGNC:1372 protein_coding YES CCDS947.1 ENSP00000358107 Q9ULX7 A8K3J4 UPI00000389EA NM_012113.2 3/10 LOW 1 SNV 1 PASS AGC . . 150261645 RPTN . GRCh38 chr1 152155775 152155775 + Missense_Mutation SNP G G T rs200476424 7316-333 BS_YVRSCEC6 G G c.1324C>A p.Pro442Thr p.P442T ENST00000316073 3/3 85 56 14 43 41 1 RPTN,missense_variant,p.Pro442Thr,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; T ENSG00000215853 ENST00000316073 Transcript missense_variant 1389/3569 1324/2355 442/784 P/T Cca/Aca rs200476424,COSM6289039 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0,1 MODERATE 1 SNV 1 0,1 PASS GGC . . 0.01446 0.02664 0.01944 0.008866 0.04347 0.001333 0.01226 0.02206 0.01098 152155775 IVL . GRCh38 chr1 152910871 152910871 + Missense_Mutation SNP C C G rs1274016127 7316-333 BS_YVRSCEC6 C C c.1074C>G p.His358Gln p.H358Q ENST00000368764 2/2 106 82 11 48 44 0 IVL,missense_variant,p.His358Gln,ENST00000368764,NM_005547.2; G ENSG00000163207 ENST00000368764 Transcript missense_variant 1138/2153 1074/1758 358/585 H/Q caC/caG rs1274016127,COSM6369598 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated(1) benign(0) 2/2 Pfam_domain:PF00904,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 2 0,1 PASS ACC . . 0.001292 0.001493 0.001752 0.0004063 0.006557 6.871e-05 0.0013 0.001472 0.0007286 152910871 SEMA4A . GRCh38 chr1 156176977 156176977 + Missense_Mutation SNP C C A novel 7316-333 BS_YVRSCEC6 C C c.2266C>A p.Leu756Ile p.L756I ENST00000368285 15/15 107 92 14 41 41 0 SEMA4A,missense_variant,p.Leu756Ile,ENST00000368285,NM_022367.3,NM_001193300.1;SEMA4A,missense_variant,p.Leu756Ile,ENST00000368282,;SEMA4A,missense_variant,p.Leu756Ile,ENST00000355014,NM_001193301.1;SEMA4A,missense_variant,p.Leu718Ile,ENST00000368286,;SEMA4A,missense_variant,p.Leu624Ile,ENST00000368284,NM_001193302.1;SEMA4A,downstream_gene_variant,,ENST00000484155,;SEMA4A,downstream_gene_variant,,ENST00000487358,;SEMA4A,downstream_gene_variant,,ENST00000462892,; A ENSG00000196189 ENST00000368285 Transcript missense_variant 2533/3300 2266/2286 756/761 L/I Cta/Ata 1 1 SEMA4A HGNC HGNC:10729 protein_coding YES CCDS1132.1 ENSP00000357268 Q9H3S1 UPI000007217A NM_022367.3,NM_001193300.1 deleterious_low_confidence(0.03) benign(0.079) 15/15 hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF15 MODERATE 1 SNV 1 1 PASS CCT . . 156176977 PTPN14 . GRCh38 chr1 214414659 214414659 + Missense_Mutation SNP C C T rs1249723264 7316-333 BS_YVRSCEC6 C C c.412G>A p.Val138Met p.V138M ENST00000366956 4/19 88 72 16 38 37 0 PTPN14,missense_variant,p.Val138Met,ENST00000366956,NM_005401.4;PTPN14,missense_variant,p.Val138Met,ENST00000543945,; T ENSG00000152104 ENST00000366956 Transcript missense_variant 607/12985 412/3564 138/1187 V/M Gtg/Atg rs1249723264 1 -1 PTPN14 HGNC HGNC:9647 protein_coding YES CCDS1514.1 ENSP00000355923 Q15678 UPI000013DCA6 NM_005401.4 deleterious(0) possibly_damaging(0.478) 4/19 cd14473,Pfam_domain:PF00373,PIRSF_domain:PIRSF000934,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031,PROSITE_profiles:PS50057,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,Prints_domain:PR00935 MODERATE 1 SNV 1 1 PASS ACC . . 4.062e-06 8.956e-06 214414659 RYR2 . GRCh38 chr1 237788063 237788063 + Missense_Mutation SNP C C G 7316-333 BS_YVRSCEC6 C C c.13404C>G p.His4468Gln p.H4468Q ENST00000366574 92/105 81 74 7 47 46 0 RYR2,missense_variant,p.His4468Gln,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.His4451Gln,ENST00000360064,;RYR2,upstream_gene_variant,,ENST00000608590,;RYR2,downstream_gene_variant,,ENST00000609119,; G ENSG00000198626 ENST00000366574 Transcript missense_variant 13721/16562 13404/14904 4468/4967 H/Q caC/caG COSM6061839,COSM6061838,COSM4234668,COSM2049027 1 1 RYR2 HGNC HGNC:10484 protein_coding YES CCDS55691.1 ENSP00000355533 Q92736 UPI0000DD0308 NM_001035.2 tolerated(1) benign(0.123) 92/105 hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Gene3D:1.25.10.10,Pfam_domain:PF06459 1,1,1,1 MODERATE 1 SNV 1 1,1,1,1 1 PASS ACA . . 237788063 ASAP2 . GRCh38 chr2 9393652 9393652 + Splice_Region SNP G G A rs1258718196 7316-333 BS_YVRSCEC6 G G c.2684+5G>A ENST00000281419 86 76 8 46 46 0 ASAP2,splice_region_variant,,ENST00000281419,NM_003887.2;ASAP2,splice_region_variant,,ENST00000315273,NM_001135191.1;ASAP2,splice_region_variant,,ENST00000491413,; A ENSG00000151693 ENST00000281419 Transcript splice_region_variant,intron_variant rs1258718196 1 1 ASAP2 HGNC HGNC:2721 protein_coding YES CCDS1661.1 ENSP00000281419 O43150 UPI0000073459 NM_003887.2 24/27 LOW 1 SNV 1 PASS AGC . . 9393652 ATP6V1C2 . GRCh38 chr2 10726501 10726501 + Splice_Site SNP G G A rs183059615 7316-333 BS_YVRSCEC6 G G c.130-1G>A p.X44_splice ENST00000272238 94 40 53 50 50 0 ATP6V1C2,splice_acceptor_variant,,ENST00000272238,NM_001039362.1;ATP6V1C2,splice_acceptor_variant,,ENST00000381661,NM_144583.3;ATP6V1C2,splice_acceptor_variant,,ENST00000635370,; A ENSG00000143882 ENST00000272238 Transcript splice_acceptor_variant rs183059615 1 1 ATP6V1C2 HGNC HGNC:18264 protein_coding YES CCDS42653.1 ENSP00000272238 Q8NEY4 UPI0000208E71 NM_001039362.1 2/13 0.0002 0.001 HIGH 1 SNV 5 PASS AGG . . 1.219e-05 0.0001307 8.967e-06 10726501 C2orf16 . GRCh38 chr2 27581294 27581294 + Missense_Mutation SNP A A T rs1434128058 7316-333 BS_YVRSCEC6 A A c.4722A>T p.Gln1574His p.Q1574H ENST00000408964 1/1 103 94 7 46 46 0 C2orf16,missense_variant,p.Gln4978His,ENST00000447166,;C2orf16,missense_variant,p.Gln1574His,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; T ENSG00000221843 ENST00000408964 Transcript missense_variant 4773/6200 4722/5955 1574/1984 Q/H caA/caT rs1434128058 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(0.74) benign(0) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS AAC . . 27581294 LCLAT1 . GRCh38 chr2 30533170 30533170 + Missense_Mutation SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.334G>A p.Val112Ile p.V112I ENST00000309052 4/7 92 82 9 49 48 0 LCLAT1,missense_variant,p.Val112Ile,ENST00000309052,NM_182551.4;LCLAT1,missense_variant,p.Val74Ile,ENST00000379509,NM_001304445.1,NM_001002257.2,NM_001304446.1;LCLAT1,missense_variant,p.Val112Ile,ENST00000319406,;LCLAT1,missense_variant,p.Val112Ile,ENST00000497423,;LCLAT1,missense_variant,p.Val74Ile,ENST00000476038,;LCLAT1,missense_variant,p.Val74Ile,ENST00000466477,;LCLAT1,missense_variant,p.Val74Ile,ENST00000465200,;LCLAT1,missense_variant,p.Val74Ile,ENST00000465538,;LCLAT1,missense_variant,p.Val74Ile,ENST00000476535,;LCLAT1,missense_variant,p.Val74Ile,ENST00000488144,;LCLAT1,non_coding_transcript_exon_variant,,ENST00000491680,;LCLAT1,3_prime_UTR_variant,,ENST00000478015,; A ENSG00000172954 ENST00000309052 Transcript missense_variant 543/5060 334/1245 112/414 V/I Gtt/Att 1 1 LCLAT1 HGNC HGNC:26756 protein_coding YES CCDS1772.1 ENSP00000310551 Q6UWP7 UPI00000389F6 NM_182551.4 tolerated(0.33) benign(0.005) 4/7 cd07990,hmmpanther:PTHR10983:SF16,hmmpanther:PTHR10983,Gene3D:3.40.1130.10,Pfam_domain:PF01553,Superfamily_domains:SSF69593 MODERATE 1 SNV 1 PASS TGT . . 30533170 USP34 . GRCh38 chr2 61370359 61370359 + Missense_Mutation SNP T T A novel 7316-333 BS_YVRSCEC6 T T c.1213A>T p.Ser405Cys p.S405C ENST00000398571 10/80 83 66 17 57 57 0 USP34,missense_variant,p.Ser405Cys,ENST00000398571,NM_014709.3;USP34,3_prime_UTR_variant,,ENST00000453133,; A ENSG00000115464 ENST00000398571 Transcript missense_variant 1290/11357 1213/10641 405/3546 S/C Agt/Tgt 1 -1 USP34 HGNC HGNC:20066 protein_coding YES CCDS42686.1 ENSP00000381577 Q70CQ2 UPI0000410E09 NM_014709.3 deleterious(0) possibly_damaging(0.808) 10/80 hmmpanther:PTHR44642 MODERATE 1 SNV 5 PASS CTC . . 61370359 ALMS1 . GRCh38 chr2 73450795 73450795 + Missense_Mutation SNP C C T rs769983998 7316-333 BS_YVRSCEC6 C C c.4268C>T p.Thr1423Ile p.T1423I ENST00000613296 8/23 86 74 9 48 47 0 ALMS1,missense_variant,p.Thr1423Ile,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Thr1381Ile,ENST00000484298,;ALMS1,missense_variant,p.Thr1423Ile,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; T ENSG00000116127 ENST00000613296 Transcript missense_variant 4379/12925 4268/12507 1423/4168 T/I aCt/aTt rs769983998 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 tolerated(0.08) benign(0.011) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS ACT . . 8.144e-06 2.985e-05 3.251e-05 73450795 RNF103 . GRCh38 chr2 86604649 86604649 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.1252G>A p.Ala418Thr p.A418T ENST00000237455 4/4 101 89 11 47 47 0 RNF103,missense_variant,p.Ala418Thr,ENST00000237455,NM_001198951.1,NM_005667.3;RNF103-CHMP3,intron_variant,,ENST00000440757,;RNF103-CHMP3,intron_variant,,ENST00000604011,NM_001198954.1;AC015971.1,intron_variant,,ENST00000424788,;AC015971.1,intron_variant,,ENST00000426549,;AC015971.1,intron_variant,,ENST00000439077,;AC015971.1,intron_variant,,ENST00000597638,;RNF103,non_coding_transcript_exon_variant,,ENST00000477307,;RNF103,intron_variant,,ENST00000463333,;RNF103,non_coding_transcript_exon_variant,,ENST00000472030,; T ENSG00000239305 ENST00000237455 Transcript missense_variant 2221/3477 1252/2058 418/685 A/T Gcc/Acc 1 -1 RNF103 HGNC HGNC:12859 protein_coding YES CCDS33237.1 ENSP00000237455 O00237 UPI0000073F2A NM_001198951.1,NM_005667.3 tolerated(0.2) probably_damaging(0.989) 4/4 hmmpanther:PTHR15302,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS GCT . . 86604649 C1QL2 . GRCh38 chr2 119158265 119158270 + Translation_Start_Site DEL GCCATG GCCATG - novel 7316-333 BS_YVRSCEC6 GCCATG GCCATG c.-1_5del ENST00000272520 1/2 81 68 13 23 22 0 C1QL2,start_lost,,ENST00000272520,NM_182528.3; - ENSG00000144119 ENST00000272520 Transcript start_lost,5_prime_UTR_variant 620-625/2043 ?-5/864 ?-2/287 1 -1 C1QL2 HGNC HGNC:24181 protein_coding YES CCDS42737.1 ENSP00000272520 Q7Z5L3 UPI000013D95E NM_182528.3 1/2 HIGH 1 deletion 1 PASS GCGCCATGG . . 119158264 KCNJ3 . GRCh38 chr2 154699242 154699242 + Missense_Mutation SNP C C G novel 7316-333 BS_YVRSCEC6 C C c.467C>G p.Pro156Arg p.P156R ENST00000295101 1/3 98 84 14 41 40 0 KCNJ3,missense_variant,p.Pro156Arg,ENST00000295101,NM_001260509.1,NM_002239.3;KCNJ3,missense_variant,p.Pro156Arg,ENST00000544049,NM_001260508.1;AC061961.1,upstream_gene_variant,,ENST00000443901,; G ENSG00000162989 ENST00000295101 Transcript missense_variant 944/5021 467/1506 156/501 P/R cCc/cGc 1 1 KCNJ3 HGNC HGNC:6264 protein_coding YES CCDS2200.1 ENSP00000295101 P48549 UPI000012D899 NM_001260509.1,NM_002239.3 deleterious(0) probably_damaging(0.984) 1/3 hmmpanther:PTHR11767:SF16,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:1.10.287.70,Superfamily_domains:SSF81324 MODERATE 1 SNV 1 PASS CCC . . 154699242 TTN . GRCh38 chr2 178652721 178652721 + Missense_Mutation SNP T T A rs746094582 7316-333 BS_YVRSCEC6 T T c.38975A>T p.Lys12992Ile p.K12992I ENST00000589042 201/363 98 85 11 30 30 0 TTN,missense_variant,p.Lys12992Ile,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; A ENSG00000155657 ENST00000589042 Transcript missense_variant 39200/109224 38975/107976 12992/35991 K/I aAa/aTa rs746094582 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 benign(0.082) 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS TTT . . 4.107e-06 9.098e-06 178652721 TTN . GRCh38 chr2 178662756 178662766 + Frame_Shift_Del DEL TGGGCACAGCC TGGGCACAGCC - novel 7316-333 BS_YVRSCEC6 TGGGCACAGCC TGGGCACAGCC c.36837_36847del p.Ala12280LysfsTer11 p.A12280Kfs*11 ENST00000589042 175/363 48 40 5 21 21 0 TTN,frameshift_variant,p.Ala12280LysfsTer11,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,downstream_gene_variant,,ENST00000425332,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; - ENSG00000155657 ENST00000589042 Transcript frameshift_variant 37062-37072/109224 36837-36847/107976 12279-12283/35991 VAVPK/VX gtGGCTGTGCCCAaa/gtaa 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 175/363 mobidb-lite HIGH 1 deletion 5 1 PASS TTTGGGCACAGCCA . . 178662755 STAT1 . GRCh38 chr2 190979854 190979854 + Missense_Mutation SNP C C G novel 7316-333 BS_YVRSCEC6 C C c.1645G>C p.Asp549His p.D549H ENST00000361099 20/25 79 69 9 49 48 0 STAT1,missense_variant,p.Asp549His,ENST00000361099,NM_007315.3;STAT1,missense_variant,p.Asp549His,ENST00000409465,;STAT1,missense_variant,p.Asp551His,ENST00000392323,;STAT1,missense_variant,p.Asp549His,ENST00000392322,NM_139266.2;STAT1,3_prime_UTR_variant,,ENST00000540176,;STAT1,3_prime_UTR_variant,,ENST00000452281,;STAT1,non_coding_transcript_exon_variant,,ENST00000464072,;STAT1,upstream_gene_variant,,ENST00000415035,;STAT1,upstream_gene_variant,,ENST00000423282,;,regulatory_region_variant,,ENSR00000127944,; G ENSG00000115415 ENST00000361099 Transcript missense_variant 2033/4310 1645/2253 549/750 D/H Gat/Cat 1 -1 STAT1 HGNC HGNC:11362 protein_coding YES CCDS2309.1 ENSP00000354394 P42224 UPI00000473FB NM_007315.3 tolerated(0.06) probably_damaging(0.928) 20/25 hmmpanther:PTHR11801:SF18,hmmpanther:PTHR11801,Pfam_domain:PF02864,Gene3D:1.10.238.10,Superfamily_domains:SSF49417 MODERATE 1 SNV 1 1 PASS TCA . . 190979854 GPR55 . GRCh38 chr2 230910518 230910518 + Missense_Mutation SNP C C A novel 7316-333 BS_YVRSCEC6 C C c.445G>T p.Val149Leu p.V149L ENST00000392040 2/2 95 53 42 44 43 0 GPR55,missense_variant,p.Val149Leu,ENST00000392040,NM_005683.3;GPR55,missense_variant,p.Val149Leu,ENST00000622008,;GPR55,missense_variant,p.Val149Leu,ENST00000392039,;GPR55,missense_variant,p.Val149Leu,ENST00000438398,;AC012507.1,downstream_gene_variant,,ENST00000454890,;GPR55,missense_variant,p.Val149Leu,ENST00000444078,; A ENSG00000135898 ENST00000392040 Transcript missense_variant 638/3828 445/960 149/319 V/L Gtg/Ttg 1 -1 GPR55 HGNC HGNC:4511 protein_coding YES CCDS2480.1 ENSP00000375894 Q9Y2T6 A8K858 UPI000006D64F NM_005683.3 deleterious(0.02) benign(0.127) 2/2 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15165,hmmpanther:PTHR24232:SF56,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321 MODERATE SNV 5 PASS ACC . . 230910518 UGT1A1 . GRCh38 chr2 233767130 233767130 + Missense_Mutation SNP G G A 7316-333 BS_YVRSCEC6 G G c.961G>A p.Ala321Thr p.A321T ENST00000305208 2/5 74 62 12 37 37 0 UGT1A1,missense_variant,p.Ala321Thr,ENST00000360418,;UGT1A6,missense_variant,p.Ala320Thr,ENST00000305139,NM_001072.3;UGT1A9,missense_variant,p.Ala318Thr,ENST00000354728,NM_021027.2;UGT1A10,missense_variant,p.Ala318Thr,ENST00000344644,NM_019075.2;UGT1A8,missense_variant,p.Ala318Thr,ENST00000373450,NM_019076.4;UGT1A4,missense_variant,p.Ala322Thr,ENST00000373409,NM_007120.2;UGT1A1,missense_variant,p.Ala321Thr,ENST00000305208,NM_000463.2;UGT1A3,missense_variant,p.Ala322Thr,ENST00000482026,NM_019093.2;UGT1A5,missense_variant,p.Ala322Thr,ENST00000373414,NM_019078.1;UGT1A7,missense_variant,p.Ala318Thr,ENST00000373426,NM_019077.2;UGT1A10,missense_variant,p.Ala318Thr,ENST00000373445,;UGT1A6,missense_variant,p.Ala53Thr,ENST00000373424,NM_205862.1;UGT1A6,missense_variant,p.Ala53Thr,ENST00000406651,;UGT1A4,missense_variant,p.Ala322Thr,ENST00000450233,;UGT1A6,missense_variant,p.Ala53Thr,ENST00000446481,;UGT1A6,3_prime_UTR_variant,,ENST00000484784,; A ENSG00000241635 ENST00000305208 Transcript missense_variant 1001/2382 961/1602 321/533 A/T Gca/Aca COSM5663745,COSM5663744,COSM5663743,COSM5663742,COSM5663741,COSM5663740,COSM5663739,COSM5663738,COSM5663737,COSM5663736 1 1 UGT1A1 HGNC HGNC:12530 protein_coding YES CCDS2510.1 ENSP00000304845 P22309 Q5DT03 UPI00000000C2 NM_000463.2 tolerated(0.07) benign(0.088) 2/5 Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF393,Superfamily_domains:SSF53756,cd03784 1,1,1,1,1,1,1,1,1,1 MODERATE SNV 1 1,1,1,1,1,1,1,1,1,1 1 PASS GGC . . 233767130 PLCD1 . GRCh38 chr3 38010479 38010479 + Missense_Mutation SNP G A A rs761747360 7316-333 BS_YVRSCEC6 G G c.937C>T p.Arg313Cys p.R313C ENST00000463876 6/15 72 3 69 26 26 0 PLCD1,missense_variant,p.Arg313Cys,ENST00000463876,NM_001130964.1;PLCD1,missense_variant,p.Arg292Cys,ENST00000334661,NM_006225.3;VILL,downstream_gene_variant,,ENST00000283713,;VILL,downstream_gene_variant,,ENST00000383759,NM_015873.3;VILL,downstream_gene_variant,,ENST00000465644,;RF00019,upstream_gene_variant,,ENST00000363709,;PLCD1,downstream_gene_variant,,ENST00000479619,;PLCD1,non_coding_transcript_exon_variant,,ENST00000461445,;PLCD1,upstream_gene_variant,,ENST00000417185,;PLCD1,upstream_gene_variant,,ENST00000484829,;VILL,downstream_gene_variant,,ENST00000486616,;VILL,downstream_gene_variant,,ENST00000488209,;PLCD1,upstream_gene_variant,,ENST00000495367,;PLCD1,upstream_gene_variant,,ENST00000495395,; A ENSG00000187091 ENST00000463876 Transcript missense_variant 1291/2963 937/2334 313/777 R/C Cgc/Tgc rs761747360 1 -1 PLCD1 HGNC HGNC:9060 protein_coding YES CCDS46793.1 ENSP00000430344 P51178 UPI00003E2810 NM_001130964.1 tolerated(0.05) possibly_damaging(0.892) 6/15 Gene3D:1.10.238.10,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF80,Superfamily_domains:SSF47473 MODERATE SNV 2 1 PASS CGG . . 4.068e-06 8.968e-06 38010479 BAP1 . GRCh38 chr3 52408560 52408560 + Missense_Mutation SNP G A A novel 7316-333 BS_YVRSCEC6 G G c.169C>T p.Arg57Trp p.R57W ENST00000460680 4/17 58 3 54 32 31 0 BAP1,missense_variant,p.Arg57Trp,ENST00000460680,NM_004656.3;BAP1,missense_variant,p.Arg57Trp,ENST00000296288,;BAP1,5_prime_UTR_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000327906,NM_001321126.1,NM_001321127.1,NM_016483.6;PHF7,upstream_gene_variant,,ENST00000347025,NM_001278221.2;BAP1,upstream_gene_variant,,ENST00000469613,;BAP1,upstream_gene_variant,,ENST00000478368,;PHF7,upstream_gene_variant,,ENST00000614886,;PHF7,upstream_gene_variant,,ENST00000615126,;PHF7,upstream_gene_variant,,ENST00000472337,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,;BAP1,intron_variant,,ENST00000490917,;BAP1,upstream_gene_variant,,ENST00000471532,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,; A ENSG00000163930 ENST00000460680 Transcript missense_variant 641/3937 169/2190 57/729 R/W Cgg/Tgg 1 -1 BAP1 HGNC HGNC:950 protein_coding YES CCDS2853.1 ENSP00000417132 Q92560 A0A024R305 UPI0000071B3D NM_004656.3 deleterious(0.04) probably_damaging(1) 4/17 cd09617,hmmpanther:PTHR10589,hmmpanther:PTHR10589:SF28,Gene3D:3.40.532.10,Pfam_domain:PF01088,Superfamily_domains:SSF54001 MODERATE 1 SNV 1 1 PASS CGG . . 52408560 EPHA6 . GRCh38 chr3 97475375 97475375 + Nonsense_Mutation SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.1918G>T p.Gly640Ter p.G640* ENST00000389672 8/18 105 86 19 53 52 0 EPHA6,stop_gained,p.Gly640Ter,ENST00000389672,NM_001080448.2;EPHA6,stop_gained,p.Gly32Ter,ENST00000514100,NM_001278300.1;EPHA6,stop_gained,p.Gly32Ter,ENST00000502694,NM_173655.3;EPHA6,stop_gained,p.Gly6Ter,ENST00000477384,;EPHA6,stop_gained,p.Gly32Ter,ENST00000503760,;EPHA6,stop_gained,p.Gly6Ter,ENST00000508345,; T ENSG00000080224 ENST00000389672 Transcript stop_gained 1956/3971 1918/3393 640/1130 G/* Gga/Tga 1 1 EPHA6 HGNC HGNC:19296 protein_coding YES CCDS46876.1 ENSP00000374323 A0A0B4J1T8 UPI000004BB12 NM_001080448.2 8/18 hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF389 HIGH 1 SNV 1 PASS AGG . . 97475375 ADGRG7 . GRCh38 chr3 100654999 100654999 + Missense_Mutation SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.1544G>A p.Arg515Lys p.R515K ENST00000273352 12/16 99 72 25 37 36 0 ADGRG7,missense_variant,p.Arg515Lys,ENST00000273352,NM_032787.2;ADGRG7,missense_variant,p.Arg220Lys,ENST00000475887,NM_001308362.1;ADGRG7,non_coding_transcript_exon_variant,,ENST00000481506,; A ENSG00000144820 ENST00000273352 Transcript missense_variant 1812/3140 1544/2394 515/797 R/K aGg/aAg 1 1 ADGRG7 HGNC HGNC:19241 protein_coding YES CCDS2938.1 ENSP00000273352 Q96K78 UPI000004B6DF NM_032787.2 tolerated(0.96) benign(0) 12/16 PROSITE_profiles:PS50261,cd15257,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF305,Pfam_domain:PF00002,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 MODERATE 1 SNV 1 PASS AGG . . 100654999 BBX . GRCh38 chr3 107710566 107710566 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.106C>T p.Leu36Phe p.L36F ENST00000325805 4/18 110 84 25 39 39 0 BBX,missense_variant,p.Leu36Phe,ENST00000415149,NM_020235.6;BBX,missense_variant,p.Leu36Phe,ENST00000402543,;BBX,missense_variant,p.Leu36Phe,ENST00000406780,;BBX,missense_variant,p.Leu36Phe,ENST00000325805,NM_001142568.2;BBX,missense_variant,p.Leu36Phe,ENST00000416476,NM_001276286.1;BBX,missense_variant,p.Leu36Phe,ENST00000402163,;BBX,missense_variant,p.Leu36Phe,ENST00000427402,;BBX,missense_variant,p.Leu36Phe,ENST00000456419,;BBX,missense_variant,p.Leu36Phe,ENST00000449213,;BBX,missense_variant,p.Leu36Phe,ENST00000413213,;BBX,missense_variant,p.Leu36Phe,ENST00000449335,;BBX,missense_variant,p.Leu36Phe,ENST00000431630,;BBX,missense_variant,p.Leu36Phe,ENST00000456817,;BBX,missense_variant,p.Leu36Phe,ENST00000457496,;BBX,missense_variant,p.Leu36Phe,ENST00000449271,;BBX,missense_variant,p.Leu36Phe,ENST00000429270,;BBX,missense_variant,p.Leu36Phe,ENST00000458458,;BBX,downstream_gene_variant,,ENST00000425868,;BBX,downstream_gene_variant,,ENST00000454540,;BBX,intron_variant,,ENST00000472032,;BBX,intron_variant,,ENST00000485939,; T ENSG00000114439 ENST00000325805 Transcript missense_variant 393/3517 106/2826 36/941 L/F Ctt/Ttt 1 1 BBX HGNC HGNC:14422 protein_coding YES CCDS46881.1 ENSP00000319974 Q8WY36 UPI000007315E NM_001142568.2 tolerated(0.17) possibly_damaging(0.764) 4/18 hmmpanther:PTHR13059,hmmpanther:PTHR13059:SF10 MODERATE 1 SNV 1 PASS ACT . . 107710566 SEMA5B . GRCh38 chr3 122915813 122915813 + Missense_Mutation SNP G G T 7316-333 BS_YVRSCEC6 G G c.1928C>A p.Ser643Tyr p.S643Y ENST00000451055 13/23 111 93 17 41 39 0 SEMA5B,missense_variant,p.Ser589Tyr,ENST00000616742,NM_001256346.1;SEMA5B,missense_variant,p.Ser589Tyr,ENST00000357599,NM_001031702.3;SEMA5B,missense_variant,p.Ser643Tyr,ENST00000451055,NM_001256347.1;SEMA5B,missense_variant,p.Ser531Tyr,ENST00000195173,NM_001256348.1;SEMA5B,missense_variant,p.Ser589Tyr,ENST00000393583,;SEMA5B,upstream_gene_variant,,ENST00000451541,;SEMA5B,missense_variant,p.Ser589Tyr,ENST00000475244,; T ENSG00000082684 ENST00000451055 Transcript missense_variant 1939/4579 1928/3618 643/1205 S/Y tCc/tAc COSM5702832,COSM5702831,COSM5702830 1 -1 SEMA5B HGNC HGNC:10737 protein_coding YES CCDS58848.1 ENSP00000389588 Q9P283 UPI0002065011 NM_001256347.1 deleterious(0.03) possibly_damaging(0.789) 13/23 Gene3D:3.30.1680.10,Pfam_domain:PF01437,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF39,SMART_domains:SM00423,Superfamily_domains:SSF103575 1,1,1 MODERATE 1 SNV 2 1,1,1 PASS GGA . . 122915813 TM4SF18 . GRCh38 chr3 149333360 149333360 + Missense_Mutation SNP C C A novel 7316-333 BS_YVRSCEC6 C C c.23G>T p.Gly8Val p.G8V ENST00000296059 2/6 114 72 36 43 43 0 TM4SF18,missense_variant,p.Gly8Val,ENST00000296059,NM_138786.3;TM4SF18,missense_variant,p.Gly8Val,ENST00000470080,NM_001184723.1;TM4SF18,missense_variant,p.Gly8Val,ENST00000474754,;AC093001.1,intron_variant,,ENST00000489011,;TM4SF18,non_coding_transcript_exon_variant,,ENST00000491182,;TM4SF18,upstream_gene_variant,,ENST00000468398,; A ENSG00000163762 ENST00000296059 Transcript missense_variant 289/3852 23/606 8/201 G/V gGc/gTc 1 -1 TM4SF18 HGNC HGNC:25181 protein_coding YES CCDS3142.1 ENSP00000296059 Q96CE8 UPI000006F129 NM_138786.3 tolerated(0.11) benign(0.123) 2/6 Transmembrane_helices:TMhelix,hmmpanther:PTHR14198:SF14,hmmpanther:PTHR14198,Pfam_domain:PF05805 MODERATE 1 SNV 1 PASS GCC . . 149333360 VEPH1 . GRCh38 chr3 157364341 157364341 + Missense_Mutation SNP T T A novel 7316-333 BS_YVRSCEC6 T T c.1299A>T p.Gln433His p.Q433H ENST00000362010 8/14 83 73 10 38 38 0 VEPH1,missense_variant,p.Gln433His,ENST00000362010,NM_001167912.1;VEPH1,missense_variant,p.Gln433His,ENST00000392833,NM_001167911.1;VEPH1,missense_variant,p.Gln433His,ENST00000392832,NM_024621.2;AC092944.1,intron_variant,,ENST00000487238,;VEPH1,non_coding_transcript_exon_variant,,ENST00000488772,;VEPH1,non_coding_transcript_exon_variant,,ENST00000472419,; A ENSG00000197415 ENST00000362010 Transcript missense_variant 1607/4202 1299/2502 433/833 Q/H caA/caT 1 -1 VEPH1 HGNC HGNC:25735 protein_coding YES CCDS3179.1 ENSP00000354919 Q14D04 UPI000013F6EE NM_001167912.1 tolerated(0.16) benign(0) 8/14 Gene3D:1.25.10.10,hmmpanther:PTHR21630 MODERATE 1 SNV 1 PASS CTT . . 157364341 OTOL1 . GRCh38 chr3 161503692 161503692 + Missense_Mutation SNP C C T rs765939257 7316-333 BS_YVRSCEC6 C C c.1184C>T p.Thr395Met p.T395M ENST00000327928 4/4 117 107 9 44 44 0 OTOL1,missense_variant,p.Thr395Met,ENST00000327928,NM_001080440.1; T ENSG00000182447 ENST00000327928 Transcript missense_variant 1184/1434 1184/1434 395/477 T/M aCg/aTg rs765939257,COSM207529 1 1 OTOL1 HGNC HGNC:34071 protein_coding YES CCDS46948.1 ENSP00000330808 A6NHN0 UPI0000D61BA3 NM_001080440.1 deleterious(0) probably_damaging(1) 4/4 Gene3D:2.60.120.40,Pfam_domain:PF00386,Prints_domain:PR00007,PROSITE_profiles:PS50871,hmmpanther:PTHR44584,hmmpanther:PTHR44584:SF2,SMART_domains:SM00110,Superfamily_domains:SSF49842 0,1 MODERATE 1 SNV 2 0,1 PASS ACG . . 2.04e-05 2.702e-05 6.521e-05 161503692 ATP11B . GRCh38 chr3 182866355 182866355 + Frame_Shift_Del DEL G G - novel 7316-333 BS_YVRSCEC6 G G c.1532del p.Gly511ValfsTer24 p.G511Vfs*24 ENST00000323116 14/30 97 83 11 63 61 0 ATP11B,frameshift_variant,p.Gly511ValfsTer24,ENST00000323116,NM_014616.2;ATP11B,frameshift_variant,p.Gly312ValfsTer24,ENST00000498086,;ATP11B,non_coding_transcript_exon_variant,,ENST00000490303,; - ENSG00000058063 ENST00000323116 Transcript frameshift_variant 1791/7325 1531/3534 511/1177 G/X Ggt/gt 1 1 ATP11B HGNC HGNC:13553 protein_coding YES CCDS33896.1 ENSP00000321195 Q9Y2G3 UPI000004124E NM_014616.2 14/30 Gene3D:3.40.1110.10,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,SFLDF00027,SFLDG00002,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01652,cd02073 HIGH 1 deletion 2 1 PASS ATGG . . 182866354 NOP14 . GRCh38 chr4 2963186 2963186 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.134G>A p.Gly45Asp p.G45D ENST00000416614 1/18 44 28 16 47 47 0 NOP14,missense_variant,p.Gly45Asp,ENST00000416614,NM_001291978.1;NOP14,missense_variant,p.Gly45Asp,ENST00000314262,NM_003703.2;NOP14,missense_variant,p.Gly45Asp,ENST00000502735,;NOP14,missense_variant,p.Gly45Asp,ENST00000398071,NM_001291979.1;GRK4,upstream_gene_variant,,ENST00000345167,NM_001004056.1;GRK4,upstream_gene_variant,,ENST00000398051,NM_005307.2;GRK4,upstream_gene_variant,,ENST00000398052,NM_182982.2;GRK4,upstream_gene_variant,,ENST00000503518,;GRK4,upstream_gene_variant,,ENST00000504933,NM_001004057.1;NOP14-AS1,downstream_gene_variant,,ENST00000503709,;,regulatory_region_variant,,ENSR00000165022,; T ENSG00000087269 ENST00000416614 Transcript missense_variant 200/3538 134/2574 45/857 G/D gGc/gAc 1 -1 NOP14 HGNC HGNC:16821 protein_coding YES CCDS33945.1 ENSP00000405068 P78316 UPI00001A9472 NM_001291978.1 deleterious(0) probably_damaging(1) 1/18 hmmpanther:PTHR23183,Pfam_domain:PF04147 MODERATE 1 SNV 1 PASS GCC . . 2963186 NWD2 . GRCh38 chr4 37446694 37446694 + Missense_Mutation SNP G G A rs151044727 7316-333 BS_YVRSCEC6 G G c.4706G>A p.Arg1569Gln p.R1569Q ENST00000309447 7/7 52 33 19 61 59 0 NWD2,missense_variant,p.Arg1569Gln,ENST00000309447,NM_001144990.1; A ENSG00000174145 ENST00000309447 Transcript missense_variant 5554/8325 4706/5229 1569/1742 R/Q cGg/cAg rs151044727 1 1 NWD2 HGNC HGNC:29229 protein_coding YES CCDS47040.1 ENSP00000309501 Q9ULI1 UPI00006C0875 NM_001144990.1 tolerated(0.33) benign(0.162) 7/7 hmmpanther:PTHR19857,hmmpanther:PTHR19857:SF18,Gene3D:2.130.10.10,Superfamily_domains:SSF82171 0.0004 0.002 MODERATE 1 SNV 5 PASS CGG . . 0.0001322 0.001855 0.0002587 37446694 TEC . GRCh38 chr4 48228573 48228573 + Missense_Mutation SNP C C A 7316-333 BS_YVRSCEC6 C C c.42G>T p.Arg14Ser p.R14S ENST00000381501 2/18 67 58 9 40 40 0 TEC,missense_variant,p.Arg14Ser,ENST00000381501,NM_003215.2;TEC,missense_variant,p.Arg14Ser,ENST00000505452,; A ENSG00000135605 ENST00000381501 Transcript missense_variant 200/3687 42/1896 14/631 R/S agG/agT COSM447910 1 -1 TEC HGNC HGNC:11719 protein_coding YES CCDS3481.1 ENSP00000370912 P42680 UPI000013CFAE NM_003215.2 deleterious(0) probably_damaging(0.991) 2/18 Gene3D:2.30.29.30,PDB-ENSP_mappings:2lul.A,Pfam_domain:PF00169,PROSITE_profiles:PS50003,SMART_domains:SM00233,Superfamily_domains:SSF50729,cd01238 1 MODERATE 1 SNV 1 1 1 PASS ACC . . 48228573 MANBA . GRCh38 chr4 102632068 102632068 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.2629G>A p.Asp877Asn p.D877N ENST00000226578 17/17 58 50 8 46 46 0 MANBA,missense_variant,p.Asp877Asn,ENST00000226578,NM_005908.3;MANBA,missense_variant,p.Asp923Asn,ENST00000642252,;MANBA,missense_variant,p.Asp877Asn,ENST00000647097,;MANBA,missense_variant,p.Asp820Asn,ENST00000505239,;MANBA,3_prime_UTR_variant,,ENST00000644159,;MANBA,3_prime_UTR_variant,,ENST00000646311,;MANBA,3_prime_UTR_variant,,ENST00000644545,;MANBA,3_prime_UTR_variant,,ENST00000646727,;MANBA,3_prime_UTR_variant,,ENST00000647129,;MANBA,3_prime_UTR_variant,,ENST00000645348,;MANBA,3_prime_UTR_variant,,ENST00000645558,;MANBA,non_coding_transcript_exon_variant,,ENST00000514430,;MANBA,downstream_gene_variant,,ENST00000508141,; T ENSG00000109323 ENST00000226578 Transcript missense_variant 2729/3361 2629/2640 877/879 D/N Gat/Aat 1 -1 MANBA HGNC HGNC:6831 protein_coding YES CCDS3658.1 ENSP00000226578 O00462 UPI000013C8A2 NM_005908.3 deleterious(0.04) benign(0.23) 17/17 Gene3D:2.60.40.10,hmmpanther:PTHR43730,hmmpanther:PTHR43730:SF1,Superfamily_domains:SSF49303 MODERATE 1 SNV 1 1 PASS TCT . . 102632068 ENPEP . GRCh38 chr4 110553408 110553408 + Missense_Mutation SNP C C G novel 7316-333 BS_YVRSCEC6 C C c.2595C>G p.Asn865Lys p.N865K ENST00000265162 18/20 69 62 7 47 46 0 ENPEP,missense_variant,p.Asn865Lys,ENST00000265162,NM_001977.3;ENPEP,non_coding_transcript_exon_variant,,ENST00000502711,; G ENSG00000138792 ENST00000265162 Transcript missense_variant 2937/6943 2595/2874 865/957 N/K aaC/aaG 1 1 ENPEP HGNC HGNC:3355 protein_coding YES CCDS3691.1 ENSP00000265162 Q07075 UPI000013D5C6 NM_001977.3 tolerated(0.21) benign(0.058) 18/20 PDB-ENSP_mappings:4kx7.A,PDB-ENSP_mappings:4kx8.A,PDB-ENSP_mappings:4kx9.A,PDB-ENSP_mappings:4kxa.A,PDB-ENSP_mappings:4kxb.A,PDB-ENSP_mappings:4kxc.A,PDB-ENSP_mappings:4kxd.A,Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF242 MODERATE 1 SNV 1 PASS ACA . . 110553408 KIAA1109 . GRCh38 chr4 122279892 122279892 + Missense_Mutation SNP G G C novel 7316-333 BS_YVRSCEC6 G G c.8709G>C p.Gln2903His p.Q2903H ENST00000264501 51/86 68 60 7 48 47 1 KIAA1109,missense_variant,p.Gln2903His,ENST00000264501,;KIAA1109,missense_variant,p.Gln2903His,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Gln861His,ENST00000419325,;KIAA1109,downstream_gene_variant,,ENST00000446180,; C ENSG00000138688 ENST00000264501 Transcript missense_variant 9082/15896 8709/15018 2903/5005 Q/H caG/caC 1 1 KIAA1109 HGNC HGNC:26953 protein_coding YES CCDS43267.1 ENSP00000264501 Q2LD37 UPI0000DD87B4 deleterious(0) probably_damaging(0.979) 51/86 hmmpanther:PTHR31640 MODERATE 1 SNV 5 1 PASS AGC . . 122279892 RNF150 . GRCh38 chr4 140911317 140911317 + Missense_Mutation SNP A A G novel 7316-333 BS_YVRSCEC6 A A c.1025T>C p.Phe342Ser p.F342S ENST00000515673 6/7 95 83 11 47 47 0 RNF150,missense_variant,p.Phe342Ser,ENST00000515673,NM_020724.1;RNF150,missense_variant,p.Phe300Ser,ENST00000306799,;RNF150,missense_variant,p.Phe201Ser,ENST00000420921,;RNF150,missense_variant,p.Phe342Ser,ENST00000507500,;RNF150,missense_variant,p.Phe173Ser,ENST00000506101,; G ENSG00000170153 ENST00000515673 Transcript missense_variant 1059/9805 1025/1317 342/438 F/S tTc/tCc 1 -1 RNF150 HGNC HGNC:23138 protein_coding YES CCDS34065.1 ENSP00000425840 Q9ULK6 UPI00004C9B0C NM_020724.1 tolerated(0.25) benign(0.015) 6/7 hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF42 MODERATE 1 SNV 5 PASS GAA . . 140911317 LRBA . GRCh38 chr4 150761852 150761852 + Splice_Region DEL A A - rs766857985 7316-333 BS_YVRSCEC6 A A c.5581-5del ENST00000357115 76 66 7 51 49 0 LRBA,splice_region_variant,,ENST00000357115,NM_006726.4;LRBA,splice_region_variant,,ENST00000507224,;LRBA,splice_region_variant,,ENST00000509835,;LRBA,splice_region_variant,,ENST00000510413,NM_001199282.2; - ENSG00000198589 ENST00000357115 Transcript splice_region_variant,intron_variant rs766857985,TMP_ESP_4_151683004_151683004,COSM4774401 1 -1 LRBA HGNC HGNC:1742 protein_coding YES CCDS3773.1 ENSP00000349629 P50851 UPI000013E35C NM_006726.4 34/57 0.07412 0.06717 0,0,1 LOW 1 deletion 1 0,0,1 1 PASS ATAA . . 0.01448 0.01349 0.02692 0.02659 0.02681 0.004727 0.012 0.01747 0.01719 150761851 ITGA1 . GRCh38 chr5 52898267 52898267 + Missense_Mutation SNP C C G novel 7316-333 BS_YVRSCEC6 C C c.1193C>G p.Ala398Gly p.A398G ENST00000282588 11/29 60 36 23 51 49 0 ITGA1,missense_variant,p.Ala398Gly,ENST00000282588,NM_181501.1;ITGA1,upstream_gene_variant,,ENST00000504669,; G ENSG00000213949 ENST00000282588 Transcript missense_variant 1651/10757 1193/3540 398/1179 A/G gCc/gGc 1 1 ITGA1 HGNC HGNC:6134 protein_coding YES CCDS3955.1 ENSP00000282588 P56199 UPI00001A95E8 NM_181501.1 deleterious(0) probably_damaging(0.994) 11/29 Gene3D:2.130.10.130,Superfamily_domains:SSF69318,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22 MODERATE 1 SNV 1 PASS GCC . . 52898267 ADAMTS6 . GRCh38 chr5 65214908 65214908 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.2461G>A p.Gly821Arg p.G821R ENST00000381055 20/25 74 43 31 44 43 0 ADAMTS6,missense_variant,p.Gly821Arg,ENST00000381055,NM_197941.3;ADAMTS6,upstream_gene_variant,,ENST00000417396,;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000464680,;AC008868.1,downstream_gene_variant,,ENST00000509786,; T ENSG00000049192 ENST00000381055 Transcript missense_variant 3318/7311 2461/3354 821/1117 G/R Gga/Aga 1 -1 ADAMTS6 HGNC HGNC:222 protein_coding YES CCDS3983.2 ENSP00000370443 Q9UKP5 UPI000050D3F1 NM_197941.3 deleterious(0.03) possibly_damaging(0.859) 20/25 hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,Pfam_domain:PF05986 MODERATE 1 SNV 1 PASS CCC . . 65214908 NUDT12 . GRCh38 chr5 103559244 103559244 + Missense_Mutation SNP C C G rs760262334 7316-333 BS_YVRSCEC6 C C c.431G>C p.Ser144Thr p.S144T ENST00000230792 3/7 85 71 13 59 57 0 NUDT12,missense_variant,p.Ser144Thr,ENST00000230792,NM_031438.3;NUDT12,missense_variant,p.Ser126Thr,ENST00000507423,NM_001300741.1;NUDT12,upstream_gene_variant,,ENST00000515407,;NUDT12,downstream_gene_variant,,ENST00000508889,; G ENSG00000112874 ENST00000230792 Transcript missense_variant 528/3492 431/1389 144/462 S/T aGc/aCc rs760262334 1 -1 NUDT12 HGNC HGNC:18826 protein_coding YES CCDS4096.1 ENSP00000230792 Q9BQG2 UPI0000073C53 NM_031438.3 tolerated(0.35) benign(0.022) 3/7 Gene3D:1.25.40.20,hmmpanther:PTHR42904,hmmpanther:PTHR42904:SF2 MODERATE 1 SNV 1 PASS GCT . . 2.792e-05 6.199e-05 0.000146 1.998e-05 103559244 FAM53C . GRCh38 chr5 138345089 138345089 + Missense_Mutation SNP G G C novel 7316-333 BS_YVRSCEC6 G G c.401G>C p.Trp134Ser p.W134S ENST00000239906 4/5 66 59 6 45 44 0 FAM53C,missense_variant,p.Trp134Ser,ENST00000239906,NM_016605.2;FAM53C,missense_variant,p.Trp134Ser,ENST00000434981,NM_001135647.1;FAM53C,missense_variant,p.Trp124Ser,ENST00000511276,;FAM53C,intron_variant,,ENST00000513056,;AC104116.1,downstream_gene_variant,,ENST00000504539,;FAM53C,non_coding_transcript_exon_variant,,ENST00000507506,;FAM53C,non_coding_transcript_exon_variant,,ENST00000505768,;FAM53C,non_coding_transcript_exon_variant,,ENST00000505136,;FAM53C,downstream_gene_variant,,ENST00000512180,;FAM53C,downstream_gene_variant,,ENST00000511024,; C ENSG00000120709 ENST00000239906 Transcript missense_variant 829/4377 401/1179 134/392 W/S tGg/tCg 1 1 FAM53C HGNC HGNC:1336 protein_coding YES CCDS4204.1 ENSP00000239906 Q9NYF3 UPI000006DF45 NM_016605.2 deleterious(0.02) probably_damaging(0.976) 4/5 Pfam_domain:PF15242,hmmpanther:PTHR28567,hmmpanther:PTHR28567:SF4 MODERATE 1 SNV 1 PASS TGG . . 138345089 FAM53C . GRCh38 chr5 138345090 138345090 + Missense_Mutation SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.402G>T p.Trp134Cys p.W134C ENST00000239906 4/5 64 57 6 45 44 0 FAM53C,missense_variant,p.Trp134Cys,ENST00000239906,NM_016605.2;FAM53C,missense_variant,p.Trp134Cys,ENST00000434981,NM_001135647.1;FAM53C,missense_variant,p.Trp124Cys,ENST00000511276,;FAM53C,intron_variant,,ENST00000513056,;AC104116.1,downstream_gene_variant,,ENST00000504539,;FAM53C,non_coding_transcript_exon_variant,,ENST00000507506,;FAM53C,non_coding_transcript_exon_variant,,ENST00000505768,;FAM53C,non_coding_transcript_exon_variant,,ENST00000505136,;FAM53C,downstream_gene_variant,,ENST00000512180,;FAM53C,downstream_gene_variant,,ENST00000511024,; T ENSG00000120709 ENST00000239906 Transcript missense_variant 830/4377 402/1179 134/392 W/C tgG/tgT 1 1 FAM53C HGNC HGNC:1336 protein_coding YES CCDS4204.1 ENSP00000239906 Q9NYF3 UPI000006DF45 NM_016605.2 tolerated(0.07) probably_damaging(0.992) 4/5 Pfam_domain:PF15242,hmmpanther:PTHR28567,hmmpanther:PTHR28567:SF4 MODERATE 1 SNV 1 PASS GGC . . 138345090 PCDHGB4 . GRCh38 chr5 141388782 141388782 + Missense_Mutation SNP A A G novel 7316-333 BS_YVRSCEC6 A A c.898A>G p.Thr300Ala p.T300A ENST00000519479 1/4 78 70 7 46 46 0 PCDHGB4,missense_variant,p.Thr300Ala,ENST00000615384,NM_032098.1;PCDHGB4,missense_variant,p.Thr300Ala,ENST00000519479,NM_003736.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;PCDHGA8,upstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA7,downstream_gene_variant,,ENST00000617050,NM_032087.2;PCDHGA3,intron_variant,,ENST00000612467,;,regulatory_region_variant,,ENSR00000317595,; G ENSG00000253953 ENST00000519479 Transcript missense_variant 898/4578 898/2772 300/923 T/A Act/Gct 1 1 PCDHGB4 HGNC HGNC:8711 protein_coding YES CCDS54928.1 ENSP00000428288 Q9UN71 UPI000006F773 NM_003736.2 deleterious(0.04) benign(0.232) 1/4 Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF117,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 MODERATE 1 SNV 1 PASS TAC . . 141388782 MDC1 . GRCh38 chr6 30705183 30705183 + Missense_Mutation SNP T T G rs763557759 7316-333 BS_YVRSCEC6 T T c.4000A>C p.Ile1334Leu p.I1334L ENST00000376406 10/15 54 37 14 30 27 1 MDC1,missense_variant,p.Ile1334Leu,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; G ENSG00000137337 ENST00000376406 Transcript missense_variant 4648/7576 4000/6270 1334/2089 I/L Att/Ctt rs763557759 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(0.19) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS ATC . . 0.0003444 0.0002401 0.0003754 0.0005568 0.001505 0.0002871 0.0002997 30705183 MUCL3 . GRCh38 chr6 30950971 30950971 + Missense_Mutation SNP A A C rs538824498 7316-333 BS_YVRSCEC6 A A c.2507A>C p.Gln836Pro p.Q836P ENST00000462446 2/3 63 47 12 46 43 1 MUCL3,missense_variant,p.Gln903Pro,ENST00000636043,;MUCL3,missense_variant,p.Gln836Pro,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; C ENSG00000168631 ENST00000462446 Transcript missense_variant 2535/5314 2507/4182 836/1393 Q/P cAa/cCa rs538824498,COSM3252516 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.29) benign(0.06) 2/3 mobidb-lite,hmmpanther:PTHR22094,hmmpanther:PTHR22094 0.0050 0.0129 0.0029 0.001 0.0051 0,1 MODERATE SNV 5 0,1 1 PASS CAA . . 0.0006147 1.722e-05 0.004052 30950971 CMTR1 . GRCh38 chr6 37479224 37479224 + Missense_Mutation SNP G G C novel 7316-333 BS_YVRSCEC6 G G c.2344G>C p.Asp782His p.D782H ENST00000373451 23/24 84 49 33 28 28 0 CMTR1,missense_variant,p.Asp782His,ENST00000373451,NM_015050.2;CMTR1,missense_variant,p.Asp135His,ENST00000457419,;CCDC167,downstream_gene_variant,,ENST00000373408,NM_138493.2;CMTR1,downstream_gene_variant,,ENST00000475364,; C ENSG00000137200 ENST00000373451 Transcript missense_variant 2508/4033 2344/2508 782/835 D/H Gac/Cac 1 1 CMTR1 HGNC HGNC:21077 protein_coding YES CCDS4835.1 ENSP00000362550 Q8N1G2 UPI00000700C2 NM_015050.2 deleterious(0.02) benign(0.143) 23/24 Gene3D:2.20.70.10,PROSITE_patterns:PS01159,hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF0,SMART_domains:SM00456 MODERATE 1 SNV 1 PASS TGA . . 37479224 CMTR1 . GRCh38 chr6 37479225 37479225 + Missense_Mutation SNP A A T novel 7316-333 BS_YVRSCEC6 A A c.2345A>T p.Asp782Val p.D782V ENST00000373451 23/24 85 51 33 27 27 0 CMTR1,missense_variant,p.Asp782Val,ENST00000373451,NM_015050.2;CMTR1,missense_variant,p.Asp135Val,ENST00000457419,;CCDC167,downstream_gene_variant,,ENST00000373408,NM_138493.2;CMTR1,downstream_gene_variant,,ENST00000475364,; T ENSG00000137200 ENST00000373451 Transcript missense_variant 2509/4033 2345/2508 782/835 D/V gAc/gTc 1 1 CMTR1 HGNC HGNC:21077 protein_coding YES CCDS4835.1 ENSP00000362550 Q8N1G2 UPI00000700C2 NM_015050.2 tolerated(0.15) benign(0) 23/24 Gene3D:2.20.70.10,PROSITE_patterns:PS01159,hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF0,SMART_domains:SM00456 MODERATE 1 SNV 1 PASS GAC . . 37479225 FAM83B . GRCh38 chr6 54939701 54939701 + Splice_Region SNP C C T rs1169677729 7316-333 BS_YVRSCEC6 C C c.735-5C>T ENST00000306858 58 52 6 45 45 0 FAM83B,splice_region_variant,,ENST00000306858,NM_001010872.2;AL049555.1,upstream_gene_variant,,ENST00000562834,; T ENSG00000168143 ENST00000306858 Transcript splice_region_variant,intron_variant rs1169677729 1 1 FAM83B HGNC HGNC:21357 protein_coding YES CCDS34479.1 ENSP00000304078 Q5T0W9 UPI00001D81EC NM_001010872.2 4/4 LOW 1 SNV 1 PASS CCC . . 5.021e-06 1.033e-05 54939701 EPM2A . GRCh38 chr6 145686135 145686135 + Missense_Mutation SNP T T A novel 7316-333 BS_YVRSCEC6 T T c.463A>T p.Met155Leu p.M155L ENST00000367519 2/4 76 66 10 55 54 0 EPM2A,missense_variant,p.Met155Leu,ENST00000367519,NM_005670.3;EPM2A,missense_variant,p.Met17Leu,ENST00000639423,NM_001360064.1;EPM2A,missense_variant,p.Met17Leu,ENST00000611340,;EPM2A,missense_variant,p.Met155Leu,ENST00000638262,NM_001360057.1;EPM2A,missense_variant,p.Met17Leu,ENST00000639465,;EPM2A,missense_variant,p.Met83Leu,ENST00000638717,;EPM2A,missense_variant,p.Met155Leu,ENST00000618445,;EPM2A,missense_variant,p.Met155Leu,ENST00000435470,NM_001018041.1;EPM2A,missense_variant,p.Met17Leu,ENST00000638778,;EPM2A,missense_variant,p.Met17Leu,ENST00000638783,;EPM2A,missense_variant,p.Met29Leu,ENST00000450221,;EPM2A,missense_variant,p.Met17Leu,ENST00000640980,;EPM2A,non_coding_transcript_exon_variant,,ENST00000496228,;EPM2A,non_coding_transcript_exon_variant,,ENST00000461700,;EPM2A,non_coding_transcript_exon_variant,,ENST00000640426,;EPM2A,non_coding_transcript_exon_variant,,ENST00000640898,;EPM2A,intron_variant,,ENST00000640297,;EPM2A,missense_variant,p.Met81Leu,ENST00000638554,;EPM2A,missense_variant,p.Met17Leu,ENST00000640225,;EPM2A,missense_variant,p.Met17Leu,ENST00000639849,;EPM2A,3_prime_UTR_variant,,ENST00000639049,NM_001360071.1;EPM2A,3_prime_UTR_variant,,ENST00000640351,;EPM2A,non_coding_transcript_exon_variant,,ENST00000639799,; A ENSG00000112425 ENST00000367519 Transcript missense_variant 820/3465 463/996 155/331 M/L Atg/Ttg 1 -1 EPM2A HGNC HGNC:3413 protein_coding YES CCDS5206.1 ENSP00000356489 O95278 UPI000006E60E NM_005670.3 tolerated(0.1) benign(0.018) 2/4 Gene3D:3.90.190.10,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF326,Superfamily_domains:SSF52799 MODERATE 1 SNV 1 1 PASS ATG . . 145686135 CYP2W1 . GRCh38 chr7 988657 988657 + Missense_Mutation SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.1308G>T p.Glu436Asp p.E436D ENST00000308919 9/9 100 85 13 42 39 0 CYP2W1,missense_variant,p.Glu436Asp,ENST00000308919,NM_017781.2;CYP2W1,missense_variant,p.Ser248Ile,ENST00000415893,;CYP2W1,3_prime_UTR_variant,,ENST00000340150,;CYP2W1,downstream_gene_variant,,ENST00000462453,;CYP2W1,downstream_gene_variant,,ENST00000468456,;,regulatory_region_variant,,ENSR00000207525,; T ENSG00000073067 ENST00000308919 Transcript missense_variant 1321/2304 1308/1473 436/490 E/D gaG/gaT 1 1 CYP2W1 HGNC HGNC:20243 protein_coding YES CCDS5319.2 ENSP00000310149 Q8TAV3 UPI000013C59A NM_017781.2 deleterious(0) probably_damaging(0.979) 9/9 hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463 MODERATE 1 SNV 1 PASS AGC . . 988657 RAPGEF5 . GRCh38 chr7 22131033 22131033 + Splice_Region SNP G G A rs367909478 7316-333 BS_YVRSCEC6 G G c.2022+4C>T ENST00000344041 135 60 73 43 38 1 RAPGEF5,splice_region_variant,,ENST00000344041,NM_012294.3;RAPGEF5,splice_region_variant,,ENST00000401957,;RAPGEF5,splice_region_variant,,ENST00000620335,;RAPGEF5,splice_region_variant,,ENST00000488366,; A ENSG00000136237 ENST00000344041 Transcript splice_region_variant,intron_variant rs367909478,COSM5517865,COSM5517864 1 -1 RAPGEF5 HGNC HGNC:16862 protein_coding YES CCDS55093.1 ENSP00000343656 A8MQ07 UPI0000EA87E4 NM_012294.3 24/25 0.0002 0.0008 0.0003016 0,1,1 LOW 1 SNV 5 0,1,1 PASS CGT . . 8.206e-05 0.0002622 0.0001334 6.014e-05 0.0002923 22131033 CRHR2 . GRCh38 chr7 30667220 30667220 + Splice_Region SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.396+8G>A ENST00000348438 98 89 8 36 36 0 CRHR2,splice_region_variant,,ENST00000341843,NM_001202481.1;CRHR2,splice_region_variant,,ENST00000348438,NM_001202475.1;CRHR2,splice_region_variant,,ENST00000471646,NM_001202482.1,NM_001883.4;CRHR2,splice_region_variant,,ENST00000506074,NM_001202483.1;CRHR2,splice_region_variant,,ENST00000452278,; T ENSG00000106113 ENST00000348438 Transcript splice_region_variant,intron_variant 1 -1 CRHR2 HGNC HGNC:2358 protein_coding YES CCDS56478.1 ENSP00000340943 Q13324 UPI000002A720 NM_001202475.1 4/12 LOW 1 SNV 1 PASS GCC . . 30667220 ZNF680 . GRCh38 chr7 64521301 64521301 + Missense_Mutation SNP C C T rs867897241 7316-333 BS_YVRSCEC6 C C c.1453G>A p.Ala485Thr p.A485T ENST00000309683 4/4 126 106 13 56 56 0 ZNF680,missense_variant,p.Ala485Thr,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,downstream_gene_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,; T ENSG00000173041 ENST00000309683 Transcript missense_variant 1605/3022 1453/1593 485/530 A/T Gct/Act rs867897241,COSM4842996 1 -1 ZNF680 HGNC HGNC:26897 protein_coding YES CCDS34644.1 ENSP00000309330 Q8NEM1 UPI000019980A NM_178558.4 tolerated(1) benign(0.003) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF121,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GCA . . 64521301 ZNF107 . GRCh38 chr7 64707379 64707379 + Missense_Mutation SNP A A G rs750832922 7316-333 BS_YVRSCEC6 A A c.1282A>G p.Lys428Glu p.K428E ENST00000620827 4/4 110 98 10 45 44 0 ZNF107,missense_variant,p.Lys359Glu,ENST00000395391,;ZNF107,missense_variant,p.Lys359Glu,ENST00000423627,NM_016220.4;ZNF107,missense_variant,p.Lys428Glu,ENST00000620827,NM_001282359.1;ZNF107,missense_variant,p.Lys396Glu,ENST00000613690,NM_001282360.1;ZNF107,missense_variant,p.Lys359Glu,ENST00000344930,NM_001013746.2;ZNF107,downstream_gene_variant,,ENST00000360117,; G ENSG00000196247 ENST00000620827 Transcript missense_variant 1482/5685 1282/2559 428/852 K/E Aaa/Gaa rs750832922,COSM351635 1 1 ZNF107 HGNC HGNC:12887 protein_coding YES CCDS75605.1 ENSP00000483720 A0A0B4J2G0 UPI0000049C52 NM_001282359.1 tolerated(1) benign(0.018) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 4 0,1 PASS TAA . . 64707379 ZNF92 . GRCh38 chr7 65399230 65399230 + Missense_Mutation SNP T T A rs200450265 7316-333 BS_YVRSCEC6 T T c.1116T>A p.Asp372Glu p.D372E ENST00000328747 4/4 114 95 12 48 47 0 ZNF92,missense_variant,p.Asp372Glu,ENST00000328747,NM_152626.3;ZNF92,missense_variant,p.Asp340Glu,ENST00000357512,NM_001287532.1;ZNF92,missense_variant,p.Asp303Glu,ENST00000450302,NM_007139.3;ZNF92,missense_variant,p.Asp296Glu,ENST00000431504,NM_001287534.1,NM_001287533.1;,regulatory_region_variant,,ENSR00000212862,; A ENSG00000146757 ENST00000328747 Transcript missense_variant 1315/3210 1116/1761 372/586 D/E gaT/gaA rs200450265,COSM351636 1 1 ZNF92 HGNC HGNC:13168 protein_coding YES CCDS34646.1 ENSP00000332595 Q03936 V9HVY7 UPI0000073CE6 NM_152626.3 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 8.418e-06 3.156e-05 9.163e-06 65399230 ZNF92 . GRCh38 chr7 65399543 65399543 + Missense_Mutation SNP A A G rs148018551 7316-333 BS_YVRSCEC6 A A c.1429A>G p.Arg477Gly p.R477G ENST00000328747 4/4 96 81 9 53 52 1 ZNF92,missense_variant,p.Arg477Gly,ENST00000328747,NM_152626.3;ZNF92,missense_variant,p.Arg445Gly,ENST00000357512,NM_001287532.1;ZNF92,missense_variant,p.Arg408Gly,ENST00000450302,NM_007139.3;ZNF92,missense_variant,p.Arg401Gly,ENST00000431504,NM_001287534.1,NM_001287533.1;,regulatory_region_variant,,ENSR00000212862,; G ENSG00000146757 ENST00000328747 Transcript missense_variant 1628/3210 1429/1761 477/586 R/G Aga/Gga rs148018551 1 1 ZNF92 HGNC HGNC:13168 protein_coding YES CCDS34646.1 ENSP00000332595 Q03936 V9HVY7 UPI0000073CE6 NM_152626.3 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384,Gene3D:2.30.30.380,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TAG . . 65399543 CNPY4 . GRCh38 chr7 100122357 100122357 + Missense_Mutation SNP A A G novel 7316-333 BS_YVRSCEC6 A A c.217A>G p.Arg73Gly p.R73G ENST00000262932 2/6 108 97 9 40 40 0 CNPY4,missense_variant,p.Arg73Gly,ENST00000262932,NM_152755.1;CNPY4,5_prime_UTR_variant,,ENST00000483756,;TAF6,upstream_gene_variant,,ENST00000344095,NM_005641.3;MBLAC1,upstream_gene_variant,,ENST00000398075,NM_203397.2;TAF6,upstream_gene_variant,,ENST00000417349,;MBLAC1,upstream_gene_variant,,ENST00000421390,;TAF6,upstream_gene_variant,,ENST00000431404,;TAF6,upstream_gene_variant,,ENST00000437822,NM_001190415.1;TAF6,upstream_gene_variant,,ENST00000440225,;TAF6,upstream_gene_variant,,ENST00000449571,;TAF6,upstream_gene_variant,,ENST00000451699,;TAF6,upstream_gene_variant,,ENST00000452041,;TAF6,upstream_gene_variant,,ENST00000452438,;TAF6,upstream_gene_variant,,ENST00000453269,NM_139315.2;TAF6,upstream_gene_variant,,ENST00000460673,;TAF6,upstream_gene_variant,,ENST00000493322,;TAF6,upstream_gene_variant,,ENST00000520135,;TAF6,upstream_gene_variant,,ENST00000523306,;AC073842.2,intron_variant,,ENST00000494221,;CNPY4,non_coding_transcript_exon_variant,,ENST00000480692,;CNPY4,downstream_gene_variant,,ENST00000470153,;TAF6,upstream_gene_variant,,ENST00000497233,;CNPY4,missense_variant,p.Arg34Gly,ENST00000462193,;TAF6,upstream_gene_variant,,ENST00000421980,;TAF6,upstream_gene_variant,,ENST00000487288,;,regulatory_region_variant,,ENSR00000215741,; G ENSG00000166997 ENST00000262932 Transcript missense_variant 349/1502 217/747 73/248 R/G Agg/Ggg 1 1 CNPY4 HGNC HGNC:28631 protein_coding YES CCDS34701.1 ENSP00000262932 Q8N129 UPI000003B115 NM_152755.1 tolerated(0.23) probably_damaging(0.963) 2/6 Gene3D:1.10.225.10,Pfam_domain:PF11938,hmmpanther:PTHR15382,hmmpanther:PTHR15382:SF3 MODERATE 1 SNV 1 PASS GAG . . 100122357 ZCWPW1 . GRCh38 chr7 100405062 100405062 + Missense_Mutation SNP A A G novel 7316-333 BS_YVRSCEC6 A A c.1202T>C p.Leu401Pro p.L401P ENST00000398027 13/18 105 96 9 31 31 0 ZCWPW1,missense_variant,p.Leu401Pro,ENST00000398027,NM_017984.4;ZCWPW1,missense_variant,p.Leu402Pro,ENST00000360951,NM_001258008.1;ZCWPW1,missense_variant,p.Leu281Pro,ENST00000490721,;ZCWPW1,intron_variant,,ENST00000471336,;PILRA,downstream_gene_variant,,ENST00000198536,NM_013439.2;PILRA,downstream_gene_variant,,ENST00000350573,NM_178272.1;PILRA,downstream_gene_variant,,ENST00000453419,;ZCWPW1,non_coding_transcript_exon_variant,,ENST00000490089,;ZCWPW1,upstream_gene_variant,,ENST00000479315,; G ENSG00000078487 ENST00000398027 Transcript missense_variant 1450/2356 1202/1947 401/648 L/P cTg/cCg 1 -1 ZCWPW1 HGNC HGNC:23486 protein_coding YES CCDS43623.1 ENSP00000381109 Q9H0M4 UPI000014146E NM_017984.4 deleterious(0) probably_damaging(0.962) 13/18 Gene3D:2.30.30.140,Pfam_domain:PF00855,hmmpanther:PTHR15999,Superfamily_domains:SSF63748,cd05837 MODERATE 1 SNV 1 PASS CAG . . 100405062 MUC17 . GRCh38 chr7 101032432 101032432 + Missense_Mutation SNP C C T rs4729645 7316-333 BS_YVRSCEC6 C C c.1016C>T p.Thr339Met p.T339M ENST00000306151 3/13 108 98 8 44 43 0 MUC17,missense_variant,p.Thr339Met,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr339Met,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 1080/14247 1016/13482 339/4493 T/M aCg/aTg rs4729645,COSM1637073 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.26) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0.0755 0.0008 0.013 0.1875 0.003 0.18 0.002951 0.001163 0,1 26285705 MODERATE 1 SNV 1 0,1 PASS ACG . . 0.04026 0.001438 0.05118 0.1666 0.03049 0.001493 0.02323 0.1403 101032432 MUC17 . GRCh38 chr7 101032663 101032663 + Missense_Mutation SNP T T C rs878932917 7316-333 BS_YVRSCEC6 T T c.1247T>C p.Ile416Thr p.I416T ENST00000306151 3/13 98 80 9 42 41 0 MUC17,missense_variant,p.Ile416Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile416Thr,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 1311/14247 1247/13482 416/4493 I/T aTt/aCt rs878932917,COSM1131758 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999 0,1 MODERATE 1 SNV 1 0,1 PASS ATT . . 101032663 MUC17 . GRCh38 chr7 101033137 101033137 + Missense_Mutation SNP A A G rs1192457625 7316-333 BS_YVRSCEC6 A A c.1721A>G p.Asn574Ser p.N574S ENST00000306151 3/13 108 85 13 49 47 0 MUC17,missense_variant,p.Asn574Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn574Ser,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 1785/14247 1721/13482 574/4493 N/S aAc/aGc rs1192457625,COSM4166561 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 101033137 MUC17 . GRCh38 chr7 101038666 101038666 + Missense_Mutation SNP A A T rs139220229 7316-333 BS_YVRSCEC6 A A c.7250A>T p.His2417Leu p.H2417L ENST00000306151 3/13 126 107 11 43 41 0 MUC17,missense_variant,p.His2417Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.His2417Leu,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 7314/14247 7250/13482 2417/4493 H/L cAt/cTt rs139220229,COSM4161663 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 1.736e-05 0.0001985 9.3e-06 101038666 MUC17 . GRCh38 chr7 101039898 101039898 + Missense_Mutation SNP G G A rs769140119 7316-333 BS_YVRSCEC6 G G c.8482G>A p.Gly2828Ser p.G2828S ENST00000306151 3/13 115 97 15 51 48 1 MUC17,missense_variant,p.Gly2828Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2828Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 8546/14247 8482/13482 2828/4493 G/S Ggc/Agc rs769140119,COSM3703090 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) probably_damaging(0.934) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS TGG . . 0.0002097 0.0001573 0.0002706 0.0001073 0.0003597 0.0001835 0.0006168 0.0003191 101039898 MUC17 . GRCh38 chr7 101040240 101040240 + Missense_Mutation SNP G G A rs150470478 7316-333 BS_YVRSCEC6 G G c.8824G>A p.Gly2942Ser p.G2942S ENST00000306151 3/13 98 84 10 40 39 1 MUC17,missense_variant,p.Gly2942Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2942Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 8888/14247 8824/13482 2942/4493 G/S Ggt/Agt rs150470478,COSM743546 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.026) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CGG . . 3.327e-05 7.705e-05 0.0003307 1.005e-05 101040240 DLD . GRCh38 chr7 107905473 107905473 + Missense_Mutation SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.551G>A p.Gly184Asp p.G184D ENST00000205402 7/14 94 81 13 60 59 0 DLD,missense_variant,p.Gly184Asp,ENST00000205402,NM_000108.4;DLD,missense_variant,p.Gly161Asp,ENST00000440410,NM_001289751.1,NM_001289750.1;DLD,intron_variant,,ENST00000437604,NM_001289752.1;DLD,downstream_gene_variant,,ENST00000639772,;DLD,downstream_gene_variant,,ENST00000453354,;DLD,downstream_gene_variant,,ENST00000494441,;DLD,missense_variant,p.Gly184Asp,ENST00000417551,;DLD,3_prime_UTR_variant,,ENST00000415325,;DLD,3_prime_UTR_variant,,ENST00000451081,;DLD,non_coding_transcript_exon_variant,,ENST00000489184,;DLD,non_coding_transcript_exon_variant,,ENST00000478414,;DLD,downstream_gene_variant,,ENST00000450038,;DLD,downstream_gene_variant,,ENST00000460577,; A ENSG00000091140 ENST00000205402 Transcript missense_variant 832/3755 551/1530 184/509 G/D gGt/gAt 1 1 DLD HGNC HGNC:2898 protein_coding YES CCDS5749.1 ENSP00000205402 P09622 A0A024R713 UPI0000072725 NM_000108.4 deleterious(0) probably_damaging(0.999) 7/14 hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF151,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01350,Pfam_domain:PF07992,PIRSF_domain:PIRSF000350,Superfamily_domains:SSF51905,Prints_domain:PR00368,Prints_domain:PR00411 MODERATE 1 SNV 1 1 PASS GGT . . 107905473 NRCAM . GRCh38 chr7 108180368 108180368 + Missense_Mutation SNP C C G novel 7316-333 BS_YVRSCEC6 C C c.2706G>C p.Lys902Asn p.K902N ENST00000379028 25/33 119 99 19 39 39 0 NRCAM,missense_variant,p.Lys902Asn,ENST00000379028,;NRCAM,missense_variant,p.Lys902Asn,ENST00000413765,NM_001193582.1;NRCAM,missense_variant,p.Lys886Asn,ENST00000351718,NM_005010.4;NRCAM,missense_variant,p.Lys883Asn,ENST00000379024,NM_001193583.1,NM_001193584.1;NRCAM,missense_variant,p.Lys902Asn,ENST00000425651,NM_001037132.2;NRCAM,missense_variant,p.Lys897Asn,ENST00000379022,;NRCAM,intron_variant,,ENST00000613830,;NRCAM,upstream_gene_variant,,ENST00000465585,;NRCAM,upstream_gene_variant,,ENST00000415105,; G ENSG00000091129 ENST00000379028 Transcript missense_variant 3192/6685 2706/3915 902/1304 K/N aaG/aaC 1 -1 NRCAM HGNC HGNC:7994 protein_coding YES CCDS47686.1 ENSP00000368314 Q92823 UPI00005E2661 deleterious(0.02) benign(0.107) 25/33 PROSITE_profiles:PS50853,cd00063,hmmpanther:PTHR43951,hmmpanther:PTHR43951:SF5,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265 MODERATE 1 SNV 5 PASS TCT . . 108180368 FLNC . GRCh38 chr7 128830915 128830915 + Missense_Mutation SNP G G C novel 7316-333 BS_YVRSCEC6 G G c.278G>C p.Arg93Pro p.R93P ENST00000325888 1/48 99 83 15 38 38 0 FLNC,missense_variant,p.Arg93Pro,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Arg93Pro,ENST00000346177,NM_001127487.1;,regulatory_region_variant,,ENSR00000217783,; C ENSG00000128591 ENST00000325888 Transcript missense_variant 539/9188 278/8178 93/2725 R/P cGc/cCc 1 1 FLNC HGNC HGNC:3756 protein_coding YES CCDS43644.1 ENSP00000327145 Q14315 UPI000006DE6D NM_001458.4 deleterious(0) possibly_damaging(0.892) 1/48 Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR43998,hmmpanther:PTHR43998:SF4,SMART_domains:SM00033,Superfamily_domains:SSF47576,cd00014 MODERATE 1 SNV 1 1 PASS CGC . . 128830915 BPGM . GRCh38 chr7 134661967 134661967 + Missense_Mutation SNP C T T rs1342185498 7316-333 BS_YVRSCEC6 C C c.460C>T p.Arg154Trp p.R154W ENST00000393132 3/4 109 26 82 47 47 0 BPGM,missense_variant,p.Arg154Trp,ENST00000393132,NM_199186.2;BPGM,missense_variant,p.Arg154Trp,ENST00000418040,NM_001293085.1;BPGM,missense_variant,p.Arg154Trp,ENST00000344924,NM_001724.4;BPGM,downstream_gene_variant,,ENST00000443095,; T ENSG00000172331 ENST00000393132 Transcript missense_variant 949/2051 460/780 154/259 R/W Cgg/Tgg rs1342185498,COSM5440111 1 1 BPGM HGNC HGNC:1093 protein_coding YES CCDS5833.1 ENSP00000376840 P07738 A0A024R782 UPI0000163BD9 NM_199186.2 tolerated(0.05) possibly_damaging(0.72) 3/4 PDB-ENSP_mappings:1t8p.A,PDB-ENSP_mappings:1t8p.B,PDB-ENSP_mappings:2a9j.A,PDB-ENSP_mappings:2a9j.B,PDB-ENSP_mappings:2f90.A,PDB-ENSP_mappings:2f90.B,PDB-ENSP_mappings:2h4x.A,PDB-ENSP_mappings:2h4x.B,PDB-ENSP_mappings:2h4z.A,PDB-ENSP_mappings:2h4z.B,PDB-ENSP_mappings:2h52.A,PDB-ENSP_mappings:2h52.B,PDB-ENSP_mappings:2hhj.A,PDB-ENSP_mappings:2hhj.B,PDB-ENSP_mappings:3nfy.A,PDB-ENSP_mappings:3nfy.B,HAMAP:MF_01039,cd07067,hmmpanther:PTHR11931,hmmpanther:PTHR11931:SF11,Pfam_domain:PF00300,PIRSF_domain:PIRSF000709,TIGRFAM_domain:TIGR01258,Gene3D:3.40.50.1240,SMART_domains:SM00855,Superfamily_domains:SSF53254 0,1 MODERATE 1 SNV 5 0,1 1 PASS ACG . . 8.127e-06 2.981e-05 8.959e-06 134661967 DENND2A . GRCh38 chr7 140585611 140585611 + Missense_Mutation SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.1223C>T p.Ser408Phe p.S408F ENST00000275884 4/19 111 103 7 51 51 0 DENND2A,missense_variant,p.Ser408Phe,ENST00000275884,NM_001318052.1;DENND2A,missense_variant,p.Ser408Phe,ENST00000492720,NM_001318053.1;DENND2A,missense_variant,p.Ser408Phe,ENST00000496613,NM_015689.4;DENND2A,missense_variant,p.Ser408Phe,ENST00000537639,;DENND2A,missense_variant,p.Ser31Phe,ENST00000475837,;DENND2A,missense_variant,p.Ser408Phe,ENST00000461883,; A ENSG00000146966 ENST00000275884 Transcript missense_variant 1641/3735 1223/3030 408/1009 S/F tCc/tTc 1 -1 DENND2A HGNC HGNC:22212 protein_coding YES CCDS43659.1 ENSP00000275884 Q9ULE3 UPI00001C1E63 NM_001318052.1 tolerated(0.12) possibly_damaging(0.541) 4/19 hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF3 MODERATE 1 SNV 1 PASS GGA . . 140585611 PRSS3P1 . GRCh38 chr7 142762696 142762696 + Splice_Region SNP G G A rs555702549 7316-333 BS_YVRSCEC6 G G n.203G>A ENST00000503996 3/5 132 117 12 41 40 0 PRSS2,intron_variant,,ENST00000632998,;PRSS3P1,splice_region_variant,,ENST00000503996,; A ENSG00000250591 ENST00000503996 Transcript splice_region_variant,non_coding_transcript_exon_variant 203/742 rs555702549 1 1 PRSS3P1 HGNC HGNC:43787 unprocessed_pseudogene YES 3/5 0.0004 0.002 LOW 1 SNV PASS CGC . . 142762696 CNTNAP2 . GRCh38 chr7 146839792 146839792 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.290C>T p.Ala97Val p.A97V ENST00000361727 3/24 116 108 6 46 46 0 CNTNAP2,missense_variant,p.Ala97Val,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Ala97Val,ENST00000625365,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,; T ENSG00000174469 ENST00000361727 Transcript missense_variant 808/9896 290/3996 97/1331 A/V gCc/gTc 1 1 CNTNAP2 HGNC HGNC:13830 protein_coding YES CCDS5889.1 ENSP00000354778 Q9UHC6 A0A090N7T7 UPI00001285FA NM_014141.5 deleterious(0) probably_damaging(0.98) 3/24 PROSITE_profiles:PS50022,cd00057,PROSITE_patterns:PS01285,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785 MODERATE 1 SNV 1 1 PASS GCC . . 146839792 RBM33 . GRCh38 chr7 155706988 155706988 + Missense_Mutation SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.868G>T p.Asp290Tyr p.D290Y ENST00000401878 7/18 95 82 12 51 49 0 RBM33,missense_variant,p.Asp290Tyr,ENST00000401878,NM_053043.2;RBM33,missense_variant,p.Asp62Tyr,ENST00000392761,;RBM33,missense_variant,p.Asp181Tyr,ENST00000440108,;RBM33,non_coding_transcript_exon_variant,,ENST00000486747,;RBM33,missense_variant,p.Asp245Tyr,ENST00000307403,; T ENSG00000184863 ENST00000401878 Transcript missense_variant 1066/10149 868/3513 290/1170 D/Y Gac/Tac 1 1 RBM33 HGNC HGNC:27223 protein_coding YES CCDS5941.2 ENSP00000384160 Q96EV2 UPI00015743D7 NM_053043.2 deleterious(0) possibly_damaging(0.668) 7/18 mobidb-lite,hmmpanther:PTHR22014 MODERATE 1 SNV 5 PASS GGA . . 155706988 RP1L1 . GRCh38 chr8 10608361 10608361 + Missense_Mutation SNP T T C rs866416296 7316-333 BS_YVRSCEC6 T T c.5737A>G p.Lys1913Glu p.K1913E ENST00000382483 4/4 79 64 9 40 38 0 RP1L1,missense_variant,p.Lys1913Glu,ENST00000382483,NM_178857.5; C ENSG00000183638 ENST00000382483 Transcript missense_variant 5961/7973 5737/7203 1913/2400 K/E Aag/Gag rs866416296 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(0.81) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 MODERATE 1 SNV 1 1 PASS TTT . . 10608361 PLAT . GRCh38 chr8 42181981 42181981 + Missense_Mutation SNP T T C rs115367577 7316-333 BS_YVRSCEC6 T T c.845A>G p.Lys282Arg p.K282R ENST00000220809 9/14 82 44 37 46 45 0 PLAT,missense_variant,p.Lys282Arg,ENST00000220809,NM_000930.4;PLAT,missense_variant,p.Lys282Arg,ENST00000429089,;PLAT,missense_variant,p.Lys236Arg,ENST00000352041,NM_033011.3;PLAT,missense_variant,p.Lys219Arg,ENST00000519510,;PLAT,missense_variant,p.Lys156Arg,ENST00000429710,;PLAT,missense_variant,p.Lys193Arg,ENST00000524009,NM_001319189.1;PLAT,3_prime_UTR_variant,,ENST00000521042,;PLAT,downstream_gene_variant,,ENST00000521647,;PLAT,upstream_gene_variant,,ENST00000522812,;PLAT,downstream_gene_variant,,ENST00000524261,; C ENSG00000104368 ENST00000220809 Transcript missense_variant 1102/2706 845/1689 282/562 K/R aAg/aGg rs115367577 1 -1 PLAT HGNC HGNC:9051 protein_coding YES CCDS6126.1 ENSP00000220809 P00750 UPI0000000DD4 NM_000930.4 tolerated(0.13) probably_damaging(0.974) 9/14 Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001145,PROSITE_profiles:PS50070,hmmpanther:PTHR44617,SMART_domains:SM00130,Superfamily_domains:SSF57440,cd00108 0.0002 0.001 MODERATE 1 SNV 1 1 PASS CTT . . 0.0001584 0.002261 42181981 PRKDC . GRCh38 chr8 47863459 47863459 + Frame_Shift_Del DEL T T - novel 7316-333 BS_YVRSCEC6 T T c.5690del p.Asn1897IlefsTer19 p.N1897Ifs*19 ENST00000314191 42/86 79 67 8 40 40 0 PRKDC,frameshift_variant,p.Asn1897IlefsTer19,ENST00000314191,NM_006904.6;PRKDC,frameshift_variant,p.Asn1897IlefsTer19,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000546304,; - ENSG00000253729 ENST00000314191 Transcript frameshift_variant 5747/13509 5690/12387 1897/4128 N/X aAt/at 1 -1 PRKDC HGNC HGNC:9413 protein_coding YES CCDS75735.1 ENSP00000313420 P78527 UPI0000013593 NM_006904.6 42/86 hmmpanther:PTHR11139:SF68,hmmpanther:PTHR11139,Pfam_domain:PF08163,Gene3D:1.25.10.10,SMART_domains:SM01344 HIGH 1 deletion 1 1 PASS GATT . . 47863458 MMP16 . GRCh38 chr8 88056125 88056125 + Splice_Region SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.1373+3C>A ENST00000286614 76 63 12 53 52 1 MMP16,splice_region_variant,,ENST00000286614,NM_005941.4; T ENSG00000156103 ENST00000286614 Transcript splice_region_variant,intron_variant 1 -1 MMP16 HGNC HGNC:7162 protein_coding YES CCDS6246.1 ENSP00000286614 P51512 UPI000003DC73 NM_005941.4 8/9 LOW 1 SNV 1 PASS TGA . . 88056125 RAD54B . GRCh38 chr8 94407546 94407546 + Missense_Mutation SNP C C A novel 7316-333 BS_YVRSCEC6 C C c.674G>T p.Arg225Met p.R225M ENST00000336148 5/15 83 72 11 39 38 0 RAD54B,missense_variant,p.Arg225Met,ENST00000336148,NM_012415.3;FSBP,missense_variant,p.Arg41Met,ENST00000611249,NM_001205263.1;RAD54B,downstream_gene_variant,,ENST00000523839,;FSBP,3_prime_UTR_variant,,ENST00000517506,;RAD54B,3_prime_UTR_variant,,ENST00000463267,;RAD54B,3_prime_UTR_variant,,ENST00000518998,; A ENSG00000197275 ENST00000336148 Transcript missense_variant 799/3068 674/2733 225/910 R/M aGg/aTg 1 -1 RAD54B HGNC HGNC:17228 protein_coding YES CCDS6262.1 ENSP00000336606 Q9Y620 UPI0000070088 NM_012415.3 tolerated(0.28) benign(0.001) 5/15 hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF881 MODERATE 1 SNV 1 1 PASS CCT . . 94407546 AC084116.1 . GRCh38 chr8 126499876 126499876 + Splice_Site DEL G G - novel 7316-333 BS_YVRSCEC6 G G n.66del ENST00000521428 102 80 17 31 31 0 AC084116.1,splice_acceptor_variant,,ENST00000521428,;RNU6-869P,upstream_gene_variant,,ENST00000384409,;,regulatory_region_variant,,ENSR00000230413,; - ENSG00000253220 ENST00000521428 Transcript splice_acceptor_variant,non_coding_transcript_variant 1 1 AC084116.1 Clone_based_ensembl_gene lincRNA YES 1/1 HIGH 1 deletion 3 4 PASS CAGG . . 126499875 GLI4 . GRCh38 chr8 143276615 143276615 + Missense_Mutation SNP G G C novel 7316-333 BS_YVRSCEC6 G G c.942G>C p.Gln314His p.Q314H ENST00000340042 4/4 115 100 10 56 53 0 GLI4,missense_variant,p.Gln314His,ENST00000340042,NM_138465.3;GLI4,missense_variant,p.Gln314His,ENST00000523522,;GLI4,downstream_gene_variant,,ENST00000344692,;GLI4,downstream_gene_variant,,ENST00000517468,;GLI4,downstream_gene_variant,,ENST00000517530,;GLI4,downstream_gene_variant,,ENST00000520021,;GLI4,downstream_gene_variant,,ENST00000521682,;AC138696.1,downstream_gene_variant,,ENST00000522452,;MINCR,downstream_gene_variant,,ENST00000517411,;MINCR,downstream_gene_variant,,ENST00000518073,;MINCR,downstream_gene_variant,,ENST00000519852,;MINCR,downstream_gene_variant,,ENST00000521207,;MINCR,downstream_gene_variant,,ENST00000523031,;MINCR,downstream_gene_variant,,ENST00000524335,;GLI4,non_coding_transcript_exon_variant,,ENST00000523812,;GLI4,downstream_gene_variant,,ENST00000519876,;GLI4,downstream_gene_variant,,ENST00000522479,;GLI4,downstream_gene_variant,,ENST00000522033,; C ENSG00000250571 ENST00000340042 Transcript missense_variant 1027/1341 942/1131 314/376 Q/H caG/caC 1 1 GLI4 HGNC HGNC:4320 protein_coding YES CCDS6398.1 ENSP00000345024 P10075 UPI0000070432 NM_138465.3 deleterious(0.01) benign(0.102) 4/4 Gene3D:2.20.28.30,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGC . . 143276615 RLN1 . GRCh38 chr9 5335325 5335325 + Nonsense_Mutation SNP G G A rs567396544 7316-333 BS_YVRSCEC6 G G c.484C>T p.Arg162Ter p.R162* ENST00000223862 2/2 152 96 54 39 39 0 RLN1,stop_gained,p.Arg162Ter,ENST00000223862,NM_006911.3;RLN1,non_coding_transcript_exon_variant,,ENST00000487557,; A ENSG00000107018 ENST00000223862 Transcript stop_gained 611/967 484/558 162/185 R/* Cga/Tga rs567396544,COSM5046405 1 -1 RLN1 HGNC HGNC:10026 protein_coding YES CCDS6462.1 ENSP00000223862 P04808 UPI000002C183 NM_006911.3 2/2 cd04365,hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF12,Gene3D:1.10.100.10,Pfam_domain:PF00049,SMART_domains:SM00078,Superfamily_domains:SSF56994 0,1 HIGH 1 SNV 1 0,1 PASS CGT . . 4.495e-05 6.553e-05 0.0005101 3.596e-05 0.0001834 5335325 HRCT1 . GRCh38 chr9 35906519 35906519 + Missense_Mutation SNP C C A novel 7316-333 BS_YVRSCEC6 C C c.232C>A p.His78Asn p.H78N ENST00000354323 1/1 101 85 13 32 31 0 HRCT1,missense_variant,p.His78Asn,ENST00000354323,NM_001039792.1;SPAAR,upstream_gene_variant,,ENST00000443779,NM_001348107.1;SPAAR,upstream_gene_variant,,ENST00000636776,;SPAAR,upstream_gene_variant,,ENST00000638062,;,regulatory_region_variant,,ENSR00000234704,; A ENSG00000196196 ENST00000354323 Transcript missense_variant 328/950 232/348 78/115 H/N Cac/Aac 1 1 HRCT1 HGNC HGNC:33872 protein_coding YES CCDS35012.1 ENSP00000346283 Q6UXD1 UPI0000048EC9 NM_001039792.1 deleterious_low_confidence(0.01) possibly_damaging(0.833) 1/1 Low_complexity_(Seg):seg,Pfam_domain:PF15758 MODERATE SNV PASS CCA . . 35906519 OGN . GRCh38 chr9 92385775 92385775 + Missense_Mutation SNP A A G novel 7316-333 BS_YVRSCEC6 A A c.742T>C p.Ser248Pro p.S248P ENST00000262551 7/7 90 78 11 49 49 0 OGN,missense_variant,p.Ser248Pro,ENST00000262551,NM_033014.3;OGN,missense_variant,p.Ser248Pro,ENST00000375561,NM_014057.4,NM_024416.4;CENPP,intron_variant,,ENST00000375587,NM_001012267.2,NM_001286969.1;OGN,downstream_gene_variant,,ENST00000447356,;OGN,downstream_gene_variant,,ENST00000468743,; G ENSG00000106809 ENST00000262551 Transcript missense_variant 1163/2971 742/897 248/298 S/P Tca/Cca 1 -1 OGN HGNC HGNC:8126 protein_coding YES CCDS6695.1 ENSP00000262551 P20774 A8K0R3 UPI00000540ED NM_033014.3 deleterious(0.02) possibly_damaging(0.477) 7/7 Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF122,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE SNV 5 PASS GAA . . 92385775 PTCH1 . GRCh38 chr9 95485706 95485706 + Frame_Shift_Del DEL A A - 7316-333 BS_YVRSCEC6 A A c.563del p.Val188AlafsTer32 p.V188Afs*32 ENST00000331920 3/24 79 46 23 51 51 0 PTCH1,frameshift_variant,p.Val122AlafsTer32,ENST00000430669,;PTCH1,frameshift_variant,p.Val188AlafsTer32,ENST00000331920,NM_000264.3;PTCH1,frameshift_variant,p.Val122AlafsTer32,ENST00000437951,NM_001083602.1;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000418258,NM_001083607.1;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000421141,NM_001083605.1,NM_001083604.1;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000429896,NM_001083606.1;PTCH1,frameshift_variant,p.Val187AlafsTer32,ENST00000375274,NM_001083603.1;PTCH1,frameshift_variant,p.Val122AlafsTer32,ENST00000468211,NM_001354919.1;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000553011,;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000547672,;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000546820,;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000551845,;PTCH1,frameshift_variant,p.Val37AlafsTer32,ENST00000551630,;PTCH1,intron_variant,,ENST00000548420,;PTCH1,non_coding_transcript_exon_variant,,ENST00000548379,;PTCH1,non_coding_transcript_exon_variant,,ENST00000553256,;PTCH1,intron_variant,,ENST00000548945,;PTCH1,downstream_gene_variant,,ENST00000551425,;PTCH1,frameshift_variant,p.Val121AlafsTer27,ENST00000375290,;PTCH1,frameshift_variant,p.Val37AlafsTer19,ENST00000550914,;PTCH1,3_prime_UTR_variant,,ENST00000551623,;PTCH1,upstream_gene_variant,,ENST00000550136,; - ENSG00000185920 ENST00000331920 Transcript frameshift_variant 863/8057 563/4344 188/1447 V/X gTc/gc COSM87912,COSM87913,COSM87914 1 -1 PTCH1 HGNC HGNC:9585 protein_coding YES CCDS6714.1 ENSP00000332353 Q13635 UPI00001AFF9C NM_000264.3 3/24 hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,TIGRFAM_domain:TIGR00918 1,1,1 HIGH 1 deletion 5 1,1,1 1 PASS GGAC . . 95485705 PAPPA . GRCh38 chr9 116331359 116331361 + Splice_Site DEL TAA TAA - novel 7316-333 BS_YVRSCEC6 TAA TAA c.3261+2_3261+4del p.X1087_splice ENST00000328252 84 72 7 36 35 0 PAPPA,splice_donor_variant,,ENST00000328252,NM_002581.4;PAPPA,upstream_gene_variant,,ENST00000460463,; - ENSG00000182752 ENST00000328252 Transcript splice_donor_variant,intron_variant 1 1 PAPPA HGNC HGNC:8602 protein_coding YES CCDS6813.1 ENSP00000330658 Q13219 UPI00001E0589 NM_002581.4 11/21 HIGH 1 deletion 1 PASS GGTAAG . . 116331358 PAPPA . GRCh38 chr9 116331362 116331362 + Splice_Region SNP G G C novel 7316-333 BS_YVRSCEC6 G G c.3261+5G>C ENST00000328252 83 73 8 34 32 0 PAPPA,splice_region_variant,,ENST00000328252,NM_002581.4;PAPPA,upstream_gene_variant,,ENST00000460463,; C ENSG00000182752 ENST00000328252 Transcript splice_region_variant,intron_variant 1 1 PAPPA HGNC HGNC:8602 protein_coding YES CCDS6813.1 ENSP00000330658 Q13219 UPI00001E0589 NM_002581.4 11/21 LOW 1 SNV 1 PASS AGC . . 116331362 LHX2 . GRCh38 chr9 124013985 124013985 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.145C>T p.Arg49Cys p.R49C ENST00000373615 2/5 89 77 12 50 50 0 LHX2,missense_variant,p.Arg49Cys,ENST00000373615,NM_004789.3;LHX2,missense_variant,p.Arg47Cys,ENST00000446480,;LHX2,missense_variant,p.Arg8Cys,ENST00000560961,;LHX2,upstream_gene_variant,,ENST00000488674,;AC006450.1,downstream_gene_variant,,ENST00000421041,;AC006450.3,upstream_gene_variant,,ENST00000453529,;,regulatory_region_variant,,ENSR00000241213,; T ENSG00000106689 ENST00000373615 Transcript missense_variant 884/2554 145/1221 49/406 R/C Cgc/Tgc 1 1 LHX2 HGNC HGNC:6594 protein_coding YES CCDS6853.1 ENSP00000362717 P50458 UPI000012E659 NM_004789.3 deleterious(0.02) benign(0.424) 2/5 Gene3D:2.10.110.10,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF90,Superfamily_domains:SSF57716,cd09469 MODERATE 1 SNV 1 PASS CCG . . 124013985 SFMBT2 . GRCh38 chr10 7197585 7197585 + Missense_Mutation SNP G G A rs372180552 7316-333 BS_YVRSCEC6 G G c.1661C>T p.Ser554Leu p.S554L ENST00000397167 15/21 70 50 20 48 47 0 SFMBT2,missense_variant,p.Ser554Leu,ENST00000397167,NM_001029880.2;SFMBT2,missense_variant,p.Ser554Leu,ENST00000361972,NM_001018039.1; A ENSG00000198879 ENST00000397167 Transcript missense_variant 1854/8024 1661/2685 554/894 S/L tCg/tTg rs372180552,COSM1265381 1 -1 SFMBT2 HGNC HGNC:20256 protein_coding YES CCDS31138.1 ENSP00000380353 Q5VUG0 UPI00001C1EDF NM_001029880.2 deleterious(0.05) probably_damaging(0.994) 15/21 Pfam_domain:PF12140,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62 0.0004539 0,1 MODERATE 1 SNV 5 0,1 PASS CGA . . 2.031e-05 0.0001307 9.746e-05 7197585 GDF2 . GRCh38 chr10 47325014 47325014 + Missense_Mutation SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.520G>T p.Asp174Tyr p.D174Y ENST00000581492 2/2 72 53 19 38 38 0 GDF2,missense_variant,p.Asp174Tyr,ENST00000581492,NM_016204.2; T ENSG00000263761 ENST00000581492 Transcript missense_variant 699/1955 520/1290 174/429 D/Y Gat/Tat 1 1 GDF2 HGNC HGNC:4217 protein_coding YES CCDS73118.1 ENSP00000463051 Q9UK05 UPI000012B394 NM_016204.2 deleterious(0) probably_damaging(0.989) 2/2 hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF157,Pfam_domain:PF00688 MODERATE 1 SNV 1 1 PASS TGA . . 47325014 PDCD11 . GRCh38 chr10 103440320 103440320 + Frame_Shift_Del DEL G G - novel 7316-333 BS_YVRSCEC6 G G c.4179del p.Ser1394LeufsTer90 p.S1394Lfs*90 ENST00000369797 29/36 49 39 5 43 43 0 PDCD11,frameshift_variant,p.Ser1394LeufsTer90,ENST00000369797,NM_014976.1;PDCD11,upstream_gene_variant,,ENST00000478543,; - ENSG00000148843 ENST00000369797 Transcript frameshift_variant 4273/6453 4179/5616 1393/1871 L/X ctG/ct 1 1 PDCD11 HGNC HGNC:13408 protein_coding YES CCDS31276.1 ENSP00000358812 Q14690 UPI00001C1ED1 NM_014976.1 29/36 Gene3D:2.40.50.140,PROSITE_profiles:PS50126,hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF10,SMART_domains:SM00316,Superfamily_domains:SSF50249,cd05705 HIGH 1 deletion 1 PASS CTGT . . 103440319 MUC5AC . GRCh38 chr11 1185624 1185624 + Missense_Mutation SNP A A C rs1276510167 7316-333 BS_YVRSCEC6 A A c.7479A>C p.Arg2493Ser p.R2493S ENST00000621226 31/49 52 32 11 40 37 1 MUC5AC,missense_variant,p.Arg2493Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 7526/17448 7479/16965 2493/5654 R/S agA/agC rs1276510167 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.77) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GAC . . 1185624 MUC5AC . GRCh38 chr11 1187407 1187407 + Missense_Mutation SNP G G C novel 7316-333 BS_YVRSCEC6 G G c.9262G>C p.Ala3088Pro p.A3088P ENST00000621226 31/49 72 51 13 38 36 1 MUC5AC,missense_variant,p.Ala3088Pro,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 9309/17448 9262/16965 3088/5654 A/P Gct/Cct 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.43) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CGC . . 1187407 MUC5AC . GRCh38 chr11 1189355 1189355 + Missense_Mutation SNP T T C rs1445126659 7316-333 BS_YVRSCEC6 T T c.11210T>C p.Ile3737Thr p.I3737T ENST00000621226 31/49 63 39 15 34 30 1 MUC5AC,missense_variant,p.Ile3737Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 11257/17448 11210/16965 3737/5654 I/T aTc/aCc rs1445126659 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.81) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 1189355 SYT8 . GRCh38 chr11 1835169 1835169 + Missense_Mutation SNP C C A novel 7316-333 BS_YVRSCEC6 C C c.106C>A p.Leu36Ile p.L36I ENST00000381968 2/9 72 61 9 37 37 0 SYT8,missense_variant,p.Leu22Ile,ENST00000341958,;SYT8,missense_variant,p.Leu36Ile,ENST00000381968,NM_138567.4,NM_001290334.1;SYT8,missense_variant,p.Leu35Ile,ENST00000381978,NM_001290332.1,NM_001290333.1;SYT8,missense_variant,p.Leu22Ile,ENST00000430303,;SYT8,missense_variant,p.Leu22Ile,ENST00000417052,;TNNI2,upstream_gene_variant,,ENST00000252898,;TNNI2,upstream_gene_variant,,ENST00000381906,NM_001145829.1;TNNI2,upstream_gene_variant,,ENST00000381911,NM_003282.3;TNNI2,upstream_gene_variant,,ENST00000617947,;SYT8,upstream_gene_variant,,ENST00000483280,;SYT8,missense_variant,p.Leu22Ile,ENST00000424556,;SYT8,non_coding_transcript_exon_variant,,ENST00000490707,;SYT8,non_coding_transcript_exon_variant,,ENST00000479276,;SYT8,non_coding_transcript_exon_variant,,ENST00000479089,;SYT8,non_coding_transcript_exon_variant,,ENST00000464897,;SYT8,non_coding_transcript_exon_variant,,ENST00000475245,;SYT8,non_coding_transcript_exon_variant,,ENST00000482118,;SYT8,upstream_gene_variant,,ENST00000494431,; A ENSG00000149043 ENST00000381968 Transcript missense_variant 234/1424 106/1206 36/401 L/I Ctt/Att 1 1 SYT8 HGNC HGNC:19264 protein_coding YES CCDS7726.2 ENSP00000371394 Q8NBV8 UPI000066D8CE NM_138567.4,NM_001290334.1 tolerated(0.11) benign(0.143) 2/9 hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF249 MODERATE SNV 5 PASS GCT . . 1835169 SYT8 . GRCh38 chr11 1835178 1835178 + Missense_Mutation SNP G G C novel 7316-333 BS_YVRSCEC6 G G c.115G>C p.Asp39His p.D39H ENST00000381968 2/9 77 65 10 39 39 0 SYT8,missense_variant,p.Asp25His,ENST00000341958,;SYT8,missense_variant,p.Asp39His,ENST00000381968,NM_138567.4,NM_001290334.1;SYT8,missense_variant,p.Asp38His,ENST00000381978,NM_001290332.1,NM_001290333.1;SYT8,missense_variant,p.Asp25His,ENST00000430303,;SYT8,missense_variant,p.Asp25His,ENST00000417052,;TNNI2,upstream_gene_variant,,ENST00000252898,;TNNI2,upstream_gene_variant,,ENST00000381906,NM_001145829.1;TNNI2,upstream_gene_variant,,ENST00000381911,NM_003282.3;TNNI2,upstream_gene_variant,,ENST00000617947,;SYT8,upstream_gene_variant,,ENST00000483280,;SYT8,missense_variant,p.Asp25His,ENST00000424556,;SYT8,non_coding_transcript_exon_variant,,ENST00000490707,;SYT8,non_coding_transcript_exon_variant,,ENST00000479276,;SYT8,non_coding_transcript_exon_variant,,ENST00000479089,;SYT8,non_coding_transcript_exon_variant,,ENST00000464897,;SYT8,non_coding_transcript_exon_variant,,ENST00000475245,;SYT8,non_coding_transcript_exon_variant,,ENST00000482118,;SYT8,upstream_gene_variant,,ENST00000494431,; C ENSG00000149043 ENST00000381968 Transcript missense_variant 243/1424 115/1206 39/401 D/H Gac/Cac 1 1 SYT8 HGNC HGNC:19264 protein_coding YES CCDS7726.2 ENSP00000371394 Q8NBV8 UPI000066D8CE NM_138567.4,NM_001290334.1 deleterious(0.03) benign(0.003) 2/9 hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF249 MODERATE SNV 5 PASS AGA . . 1835178 OVCH2 . GRCh38 chr11 7695717 7695717 + Splice_Region SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.1142-7C>A ENST00000533663 61 54 7 53 53 0 OVCH2,splice_region_variant,,ENST00000533663,;OVCH2,splice_region_variant,,ENST00000612000,NM_198185.4;AC104237.3,downstream_gene_variant,,ENST00000611809,;AC104237.2,downstream_gene_variant,,ENST00000612456,;OVCH2,downstream_gene_variant,,ENST00000534817,; T ENSG00000183378 ENST00000533663 Transcript splice_region_variant,intron_variant 1 -1 OVCH2 HGNC HGNC:29970 protein_coding YES CCDS73251.1 ENSP00000484497 A0A087X1V8 UPI00024A9A3D 10/15 LOW 1 SNV 5 PASS GGA . . 7695717 SCUBE2 . GRCh38 chr11 9089785 9089785 + Missense_Mutation SNP C C G 7316-333 BS_YVRSCEC6 C C c.178G>C p.Ala60Pro p.A60P ENST00000309263 2/22 73 64 9 51 51 0 SCUBE2,missense_variant,p.Ala60Pro,ENST00000309263,;SCUBE2,missense_variant,p.Ala60Pro,ENST00000520467,NM_020974.2;SCUBE2,missense_variant,p.Ala60Pro,ENST00000450649,NM_001170690.1;MIR5691,downstream_gene_variant,,ENST00000579525,;SCUBE2,non_coding_transcript_exon_variant,,ENST00000534295,;KRT8P41,upstream_gene_variant,,ENST00000533985,; G ENSG00000175356 ENST00000309263 Transcript missense_variant 251/3727 178/3000 60/999 A/P Gcc/Ccc COSM6773538,COSM6773537 1 -1 SCUBE2 HGNC HGNC:30425 protein_coding YES CCDS81553.1 ENSP00000310658 Q9NQ36 UPI000004C7DE deleterious(0) probably_damaging(0.976) 2/22 Gene3D:2.10.25.10,Pfam_domain:PF12947,PROSITE_profiles:PS50026,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF3,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,cd00054 1,1 MODERATE 1 SNV 5 1,1 PASS GCG . . 9089785 OR8K1 . GRCh38 chr11 56346982 56346982 + Missense_Mutation SNP T T A novel 7316-333 BS_YVRSCEC6 T T c.944T>A p.Phe315Tyr p.F315Y ENST00000279783 1/1 67 54 12 47 45 0 OR8K1,missense_variant,p.Phe315Tyr,ENST00000279783,NM_001002907.1; A ENSG00000150261 ENST00000279783 Transcript missense_variant 1038/1087 944/960 315/319 F/Y tTc/tAc 1 1 OR8K1 HGNC HGNC:14831 protein_coding YES CCDS31528.1 ENSP00000279783 Q8NGG5 A0A126GVZ6 UPI0000041BC6 NM_001002907.1 tolerated_low_confidence(0.42) benign(0) 1/1 Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS TTC . . 56346982 SLC22A6 . GRCh38 chr11 62977175 62977175 + Missense_Mutation SNP G G A rs758665168 7316-333 BS_YVRSCEC6 G G c.1574C>T p.Pro525Leu p.P525L ENST00000377871 9/10 72 51 21 39 38 0 SLC22A6,missense_variant,p.Pro525Leu,ENST00000377871,NM_004790.4;SLC22A6,missense_variant,p.Pro481Leu,ENST00000421062,NM_153278.2;SLC22A6,intron_variant,,ENST00000360421,NM_153276.2;SLC22A6,intron_variant,,ENST00000458333,NM_153277.2;SLC22A6,downstream_gene_variant,,ENST00000537349,;SLC22A6,intron_variant,,ENST00000540654,; A ENSG00000197901 ENST00000377871 Transcript missense_variant 1841/2151 1574/1692 525/563 P/L cCc/cTc rs758665168 1 -1 SLC22A6 HGNC HGNC:10970 protein_coding YES CCDS31591.1 ENSP00000367102 Q4U2R8 UPI00000747EC NM_004790.4 tolerated(0.37) benign(0) 9/10 Gene3D:1.20.1250.20,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF294,mobidb-lite MODERATE 1 SNV 1 PASS GGG . . 8.139e-06 1.797e-05 62977175 ANKRD49 . GRCh38 chr11 94496953 94496954 + Splice_Region INS - - A rs750258320 7316-333 BS_YVRSCEC6 - - c.258+13dup ENST00000544612 75 40 25 42 38 1 ANKRD49,frameshift_variant,p.Ile91AsnfsTer41,ENST00000544253,;ANKRD49,frameshift_variant,p.Ile91AsnfsTer48,ENST00000540349,;ANKRD49,frameshift_variant,p.Ile91AsnfsTer?,ENST00000541144,;ANKRD49,frameshift_variant,p.Ile91AsnfsTer41,ENST00000545130,;ANKRD49,splice_region_variant,,ENST00000302755,;ANKRD49,splice_region_variant,,ENST00000544612,NM_017704.2;ANKRD49,intron_variant,,ENST00000535502,;MRE11,upstream_gene_variant,,ENST00000323929,NM_005591.3;MRE11,upstream_gene_variant,,ENST00000323977,NM_005590.3;MRE11,upstream_gene_variant,,ENST00000393241,;MRE11,upstream_gene_variant,,ENST00000407439,;MRE11,upstream_gene_variant,,ENST00000536754,;MRE11,upstream_gene_variant,,ENST00000538923,;MRE11,upstream_gene_variant,,ENST00000540013,;ANKRD49,non_coding_transcript_exon_variant,,ENST00000539883,;MRE11,upstream_gene_variant,,ENST00000536144,;ANKRD49,upstream_gene_variant,,ENST00000538535,;MRE11,upstream_gene_variant,,ENST00000541157,;ANKRD49,frameshift_variant,p.Ile91AsnfsTer41,ENST00000534911,;ANKRD49,splice_region_variant,,ENST00000544514,; A ENSG00000168876 ENST00000544612 Transcript splice_region_variant,intron_variant rs750258320,TMP_ESP_11_94230120_94230120 1 1 ANKRD49 HGNC HGNC:25970 protein_coding YES CCDS8300.1 ENSP00000440396 Q8WVL7 A0A024R398 UPI000004A09B NM_017704.2 2/2 0.01618 0.01439 LOW 1 insertion 1 11 PASS GTA . . 0.002545 0.001265 0.001045 0.001614 0.004641 0.008281 0.002382 0.001656 0.0007018 94496953 ZNF740 . GRCh38 chr12 53187570 53187570 + Missense_Mutation SNP G G A rs949278725 7316-333 BS_YVRSCEC6 G G c.562G>A p.Asp188Asn p.D188N ENST00000416904 7/7 71 47 23 36 36 0 ZNF740,missense_variant,p.Asp188Asn,ENST00000416904,NM_001004304.3;ITGB7,downstream_gene_variant,,ENST00000267082,NM_000889.2;ITGB7,downstream_gene_variant,,ENST00000422257,;ITGB7,downstream_gene_variant,,ENST00000550743,;ITGB7,downstream_gene_variant,,ENST00000551319,;ZNF740,upstream_gene_variant,,ENST00000551514,;ITGB7,downstream_gene_variant,,ENST00000542497,;ZNF740,downstream_gene_variant,,ENST00000549739,;ZNF740,downstream_gene_variant,,ENST00000552593,; A ENSG00000139651 ENST00000416904 Transcript missense_variant 1007/8578 562/582 188/193 D/N Gac/Aac rs949278725 1 1 ZNF740 HGNC HGNC:27465 protein_coding YES CCDS44896.1 ENSP00000409463 Q8NDX6 UPI0000046CFF NM_001004304.3 tolerated(0.05) benign(0.026) 7/7 Gene3D:3.30.160.60,hmmpanther:PTHR44966 MODERATE 1 SNV 1 PASS CGA . . 8.147e-06 2.978e-05 4.484e-05 53187570 ESYT1 . GRCh38 chr12 56142863 56142863 + Missense_Mutation SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.2947G>A p.Gly983Ser p.G983S ENST00000267113 27/31 66 51 14 42 42 0 ESYT1,missense_variant,p.Gly973Ser,ENST00000394048,NM_015292.2;ESYT1,missense_variant,p.Gly983Ser,ENST00000267113,NM_001184796.1;ESYT1,non_coding_transcript_exon_variant,,ENST00000550878,;ESYT1,non_coding_transcript_exon_variant,,ENST00000548142,;ESYT1,downstream_gene_variant,,ENST00000547667,;ESYT1,upstream_gene_variant,,ENST00000550515,;ESYT1,downstream_gene_variant,,ENST00000551112,; A ENSG00000139641 ENST00000267113 Transcript missense_variant 3000/3577 2947/3345 983/1114 G/S Ggc/Agc 1 1 ESYT1 HGNC HGNC:29534 protein_coding YES CCDS53801.1 ENSP00000267113 Q9BSJ8 A0A024RB16 UPI0000D720B2 NM_001184796.1 deleterious(0.02) possibly_damaging(0.495) 27/31 Gene3D:2.60.40.150,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF26,Superfamily_domains:SSF49562,cd04030 MODERATE 1 SNV 1 PASS GGG . . 56142863 RNFT2 . GRCh38 chr12 116833912 116833912 + Missense_Mutation SNP G G C novel 7316-333 BS_YVRSCEC6 G G c.1003G>C p.Val335Leu p.V335L ENST00000257575 8/11 69 46 23 32 32 0 RNFT2,missense_variant,p.Val335Leu,ENST00000257575,;RNFT2,missense_variant,p.Val335Leu,ENST00000392549,NM_001109903.1;RNFT2,missense_variant,p.Val335Leu,ENST00000407967,NM_032814.3;RNFT2,intron_variant,,ENST00000319176,;RNFT2,intron_variant,,ENST00000622220,;RNFT2,upstream_gene_variant,,ENST00000551251,;RNFT2,3_prime_UTR_variant,,ENST00000547718,; C ENSG00000135119 ENST00000257575 Transcript missense_variant 1236/3882 1003/1335 335/444 V/L Gtc/Ctc 1 1 RNFT2 HGNC HGNC:25905 protein_coding YES CCDS44987.1 ENSP00000257575 Q96EX2 UPI00001FBBF4 tolerated(1) benign(0.007) 8/11 hmmpanther:PTHR15860:SF2,hmmpanther:PTHR15860,Gene3D:1.10.1170.10 MODERATE 1 SNV 5 PASS GGT . . 116833912 NCOR2 . GRCh38 chr12 124337041 124337041 + Missense_Mutation SNP C C G novel 7316-333 BS_YVRSCEC6 C C c.5827G>C p.Ala1943Pro p.A1943P ENST00000405201 38/47 64 53 10 28 28 0 NCOR2,missense_variant,p.Ala1943Pro,ENST00000405201,NM_006312.5;NCOR2,missense_variant,p.Ala1933Pro,ENST00000404621,NM_001077261.3;NCOR2,missense_variant,p.Ala1933Pro,ENST00000429285,NM_001206654.1;NCOR2,missense_variant,p.Ala1508Pro,ENST00000356219,;NCOR2,missense_variant,p.Ala1491Pro,ENST00000404121,;NCOR2,upstream_gene_variant,,ENST00000418829,;NCOR2,downstream_gene_variant,,ENST00000440187,;NCOR2,upstream_gene_variant,,ENST00000440337,;NCOR2,downstream_gene_variant,,ENST00000453428,;MIR6880,downstream_gene_variant,,ENST00000622851,;NCOR2,upstream_gene_variant,,ENST00000443451,;NCOR2,upstream_gene_variant,,ENST00000461081,;NCOR2,upstream_gene_variant,,ENST00000474079,; G ENSG00000196498 ENST00000405201 Transcript missense_variant 5828/8533 5827/7545 1943/2514 A/P Gcc/Ccc 1 -1 NCOR2 HGNC HGNC:7673 protein_coding YES CCDS41858.2 ENSP00000384018 C9JFD3 UPI000013D737 NM_006312.5 tolerated_low_confidence(0.16) benign(0.041) 38/47 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF21 MODERATE 1 SNV 1 1 PASS GCG . . 124337041 UBC . GRCh38 chr12 124913161 124913163 + In_Frame_Del DEL TCT TCT - novel 7316-333 BS_YVRSCEC6 TCT TCT c.609_611del p.Glu203del p.E203del ENST00000536769 1/1 58 26 12 39 32 0 UBC,inframe_deletion,p.Glu203del,ENST00000536769,;UBC,inframe_deletion,p.Glu203del,ENST00000339647,NM_021009.6;UBC,inframe_deletion,p.Glu127del,ENST00000541272,;UBC,intron_variant,,ENST00000538617,;UBC,intron_variant,,ENST00000546120,;UBC,downstream_gene_variant,,ENST00000535131,;UBC,downstream_gene_variant,,ENST00000535859,;UBC,downstream_gene_variant,,ENST00000540351,;UBC,downstream_gene_variant,,ENST00000540700,;UBC,downstream_gene_variant,,ENST00000541645,;UBC,downstream_gene_variant,,ENST00000542416,;UBC,downstream_gene_variant,,ENST00000546271,;MIR5188,upstream_gene_variant,,ENST00000583467,;UBC,downstream_gene_variant,,ENST00000536661,;UBC,downstream_gene_variant,,ENST00000544481,; - ENSG00000150991 ENST00000536769 Transcript inframe_deletion 2186-2188/3745 609-611/2058 203-204/685 ED/D gaAGAt/gat 1 -1 UBC HGNC HGNC:12468 protein_coding YES CCDS9260.1 ENSP00000441543 P0CG48 UPI000000D74D 1/1 Gene3D:3.10.20.90,Pfam_domain:PF00240,PROSITE_patterns:PS00299,PROSITE_profiles:PS50053,hmmpanther:PTHR45095,hmmpanther:PTHR45095,hmmpanther:PTHR45095:SF2,hmmpanther:PTHR45095:SF2,SMART_domains:SM00213,Superfamily_domains:SSF54236,cd01803 MODERATE 1 deletion PASS CATCTT . . 124913160 ZNF10 . GRCh38 chr12 133156250 133156250 + Missense_Mutation SNP A A T rs1409109779 7316-333 BS_YVRSCEC6 A A c.1004A>T p.His335Leu p.H335L ENST00000248211 5/5 81 68 12 59 57 0 ZNF10,missense_variant,p.His335Leu,ENST00000248211,NM_015394.4;ZNF10,missense_variant,p.His335Leu,ENST00000426665,;ZNF10,missense_variant,p.His201Leu,ENST00000402932,;AC026786.1,intron_variant,,ENST00000540096,;ZNF10,downstream_gene_variant,,ENST00000536877,;ZNF10,downstream_gene_variant,,ENST00000537119,; T ENSG00000256223 ENST00000248211 Transcript missense_variant 1226/4441 1004/1722 335/573 H/L cAc/cTc rs1409109779,COSM4742996 1 1 ZNF10 HGNC HGNC:12879 protein_coding YES CCDS9283.1 ENSP00000248211 P21506 UPI0000073582 NM_015394.4 tolerated(0.29) probably_damaging(0.994) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF124,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CAC . . 4.066e-06 6.534e-05 133156250 AMER2 . GRCh38 chr13 25170063 25170063 + Missense_Mutation SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.1557C>A p.Asn519Lys p.N519K ENST00000515384 1/1 73 58 14 45 44 0 AMER2,missense_variant,p.Asn400Lys,ENST00000357816,NM_199138.2;AMER2,missense_variant,p.Asn519Lys,ENST00000515384,NM_152704.3;LINC00463,downstream_gene_variant,,ENST00000413501,;,regulatory_region_variant,,ENSR00000060126,; T ENSG00000165566 ENST00000515384 Transcript missense_variant 2225/3197 1557/2016 519/671 N/K aaC/aaA 1 -1 AMER2 HGNC HGNC:26360 protein_coding YES CCDS53859.1 ENSP00000426528 Q8N7J2 UPI0000231C76 NM_152704.3 deleterious(0.04) possibly_damaging(0.908) 1/1 Pfam_domain:PF09422,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF1,mobidb-lite MODERATE SNV PASS TGT . . 25170063 CHD8 . GRCh38 chr14 21400935 21400935 + Missense_Mutation SNP C C T rs1176349106 7316-333 BS_YVRSCEC6 C C c.4310G>A p.Arg1437His p.R1437H ENST00000646647 22/38 95 58 36 47 47 0 CHD8,missense_variant,p.Arg1437His,ENST00000646647,;CHD8,missense_variant,p.Arg1437His,ENST00000643469,;CHD8,missense_variant,p.Arg1437His,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Arg1437His,ENST00000557364,;CHD8,missense_variant,p.Arg1158His,ENST00000430710,NM_020920.3;CHD8,missense_variant,p.Arg1158His,ENST00000645929,;CHD8,missense_variant,p.Arg1439His,ENST00000646340,;CHD8,missense_variant,p.Arg663His,ENST00000555935,;CHD8,downstream_gene_variant,,ENST00000645140,;SNORD8,upstream_gene_variant,,ENST00000363915,;CHD8,non_coding_transcript_exon_variant,,ENST00000645206,;CHD8,non_coding_transcript_exon_variant,,ENST00000646558,;CHD8,intron_variant,,ENST00000555962,;AL161747.1,downstream_gene_variant,,ENST00000480068,; T ENSG00000100888 ENST00000646647 Transcript missense_variant 4620/8471 4310/7746 1437/2581 R/H cGt/cAt rs1176349106 1 -1 CHD8 HGNC HGNC:20153 protein_coding YES CCDS53885.1 ENSP00000495240 UPI00002375B9 deleterious(0.02) benign(0.124) 22/38 HAMAP:MF_03071,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ACG . . 21400935 CHD8 . GRCh38 chr14 21427862 21427862 + Splice_Region SNP T T C rs1275939341 7316-333 BS_YVRSCEC6 T T c.1601+7A>G ENST00000646647 86 74 11 43 43 0 CHD8,splice_region_variant,,ENST00000399982,NM_001170629.1;CHD8,splice_region_variant,,ENST00000430710,NM_020920.3;CHD8,splice_region_variant,,ENST00000557364,;CHD8,splice_region_variant,,ENST00000642518,;CHD8,splice_region_variant,,ENST00000643469,;CHD8,splice_region_variant,,ENST00000645140,;CHD8,splice_region_variant,,ENST00000645929,;CHD8,splice_region_variant,,ENST00000646063,;CHD8,splice_region_variant,,ENST00000646340,;CHD8,splice_region_variant,,ENST00000646647,;CHD8,downstream_gene_variant,,ENST00000553283,;CHD8,downstream_gene_variant,,ENST00000553622,;RN7SL650P,downstream_gene_variant,,ENST00000619902,;CHD8,downstream_gene_variant,,ENST00000556833,;CHD8,splice_region_variant,,ENST00000643048,;CHD8,splice_region_variant,,ENST00000645206,;CHD8,non_coding_transcript_exon_variant,,ENST00000553651,;CHD8,intron_variant,,ENST00000555962,; C ENSG00000100888 ENST00000646647 Transcript splice_region_variant,intron_variant rs1275939341 1 -1 CHD8 HGNC HGNC:20153 protein_coding YES CCDS53885.1 ENSP00000495240 UPI00002375B9 4/37 LOW 1 SNV 1 PASS GTA . . 21427862 LTB4R2 . GRCh38 chr14 24311652 24311652 + Missense_Mutation SNP A A G novel 7316-333 BS_YVRSCEC6 A A c.988A>G p.Thr330Ala p.T330A ENST00000543919 2/2 100 89 9 51 50 0 LTB4R2,missense_variant,p.Thr361Ala,ENST00000528054,;LTB4R2,missense_variant,p.Thr330Ala,ENST00000543919,NM_019839.4,NM_001164692.2;LTB4R2,missense_variant,p.Thr330Ala,ENST00000533293,;LTB4R,5_prime_UTR_variant,,ENST00000345363,NM_001143919.2;LTB4R,intron_variant,,ENST00000553481,;CIDEB,upstream_gene_variant,,ENST00000258807,NM_014430.2;NOP9,downstream_gene_variant,,ENST00000267425,NM_174913.2;CIDEB,upstream_gene_variant,,ENST00000336557,NM_001318807.1;LTB4R,upstream_gene_variant,,ENST00000396782,;LTB4R,upstream_gene_variant,,ENST00000396789,NM_181657.3;LTB4R2,downstream_gene_variant,,ENST00000527924,;LTB4R2,downstream_gene_variant,,ENST00000530080,;CIDEB,upstream_gene_variant,,ENST00000554411,;LTB4R,upstream_gene_variant,,ENST00000556141,;NOP9,downstream_gene_variant,,ENST00000557362,;CIDEB,upstream_gene_variant,,ENST00000555817,;CIDEB,upstream_gene_variant,,ENST00000555471,; G ENSG00000213906 ENST00000543919 Transcript missense_variant 1159/1560 988/1077 330/358 T/A Acc/Gcc 1 1 LTB4R2 HGNC HGNC:19260 protein_coding YES CCDS9625.2 ENSP00000445772 Q9NPC1 UPI000003C105 NM_019839.4,NM_001164692.2 tolerated(0.71) benign(0.003) 2/2 mobidb-lite,hmmpanther:PTHR24230:SF8,hmmpanther:PTHR24230,Prints_domain:PR01478 MODERATE 1 SNV 1 PASS TAC . . 24311652 CGRRF1 . GRCh38 chr14 54530196 54530196 + Missense_Mutation SNP A A G rs199977377 7316-333 BS_YVRSCEC6 A A c.392A>G p.Tyr131Cys p.Y131C ENST00000216420 3/6 45 38 7 46 45 0 CGRRF1,missense_variant,p.Tyr131Cys,ENST00000216420,NM_006568.2;CGRRF1,missense_variant,p.Tyr163Cys,ENST00000557317,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000557512,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000557184,;CGRRF1,3_prime_UTR_variant,,ENST00000557755,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000556216,;CGRRF1,intron_variant,,ENST00000554791,;,regulatory_region_variant,,ENSR00000068705,; G ENSG00000100532 ENST00000216420 Transcript missense_variant 524/2057 392/999 131/332 Y/C tAt/tGt rs199977377,COSM956303 1 1 CGRRF1 HGNC HGNC:15528 protein_coding YES CCDS9719.1 ENSP00000216420 Q99675 UPI00000712D0 NM_006568.2 tolerated(0.17) possibly_damaging(0.887) 3/6 hmmpanther:PTHR15379 0,1 MODERATE 1 SNV 1 0,1 PASS TAT . . 3.28e-05 0.0001218 1.801e-05 0.0001855 3.299e-05 54530196 CGRRF1 . GRCh38 chr14 54530197 54530197 + Nonsense_Mutation SNP T T G rs914861684 7316-333 BS_YVRSCEC6 T T c.393T>G p.Tyr131Ter p.Y131* ENST00000216420 3/6 43 36 7 46 45 0 CGRRF1,stop_gained,p.Tyr131Ter,ENST00000216420,NM_006568.2;CGRRF1,stop_gained,p.Tyr163Ter,ENST00000557317,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000557512,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000557184,;CGRRF1,3_prime_UTR_variant,,ENST00000557755,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000556216,;CGRRF1,intron_variant,,ENST00000554791,;,regulatory_region_variant,,ENSR00000068705,; G ENSG00000100532 ENST00000216420 Transcript stop_gained 525/2057 393/999 131/332 Y/* taT/taG rs914861684,COSM956304 1 1 CGRRF1 HGNC HGNC:15528 protein_coding YES CCDS9719.1 ENSP00000216420 Q99675 UPI00000712D0 NM_006568.2 3/6 hmmpanther:PTHR15379 0,1 HIGH 1 SNV 1 0,1 PASS ATA . . 2.863e-05 9.078e-05 8.992e-06 0.0001851 6.575e-05 54530197 KCNH5 . GRCh38 chr14 62987181 62987181 + Missense_Mutation SNP G G A rs180894715 7316-333 BS_YVRSCEC6 G G c.440C>T p.Thr147Met p.T147M ENST00000322893 5/11 45 28 17 43 42 0 KCNH5,missense_variant,p.Thr147Met,ENST00000322893,NM_139318.4;KCNH5,missense_variant,p.Thr147Met,ENST00000420622,NM_172375.2;KCNH5,missense_variant,p.Thr89Met,ENST00000394968,;KCNH5,non_coding_transcript_exon_variant,,ENST00000394964,; A ENSG00000140015 ENST00000322893 Transcript missense_variant 709/11290 440/2967 147/988 T/M aCg/aTg rs180894715,COSM172459,COSM1470769 1 -1 KCNH5 HGNC HGNC:6254 protein_coding YES CCDS9756.1 ENSP00000321427 Q8NCM2 UPI0000039E2D NM_139318.4 deleterious(0.04) benign(0.432) 5/11 Gene3D:3.30.450.20,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533 0.0002 0.0014 0.0002326 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CGT . . 3.662e-05 6.538e-05 2.991e-05 5.807e-05 4.492e-05 4.486e-05 62987181 RIN3 . GRCh38 chr14 92651884 92651884 + Missense_Mutation SNP C T T rs117068593 7316-333 BS_YVRSCEC6 C C c.835C>T p.Arg279Cys p.R279C ENST00000216487 6/10 30 3 22 18 13 4 RIN3,missense_variant,p.Arg279Cys,ENST00000216487,NM_024832.4;RIN3,missense_variant,p.Arg279Cys,ENST00000620541,NM_001319987.1;RIN3,upstream_gene_variant,,ENST00000556418,;RIN3,non_coding_transcript_exon_variant,,ENST00000418924,;RIN3,non_coding_transcript_exon_variant,,ENST00000553992,;RIN3,3_prime_UTR_variant,,ENST00000555589,;,regulatory_region_variant,,ENSR00000072280,; T ENSG00000100599 ENST00000216487 Transcript missense_variant 994/3859 835/2958 279/985 R/C Cgc/Tgc rs117068593,COSM3754171 1 1 RIN3 HGNC HGNC:18751 protein_coding YES CCDS32144.1 ENSP00000216487 Q8TB24 UPI00001C1C97 NM_024832.4 deleterious(0.04) probably_damaging(0.925) 6/10 hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF58,mobidb-lite,Low_complexity_(Seg):seg 0.0805 0.0053 0.098 0.003 0.1869 0.1401 0.03497 0.1962 0,1 26635082,24945404,25701875,28347358 MODERATE 1 SNV 1 1,1 PASS CCG . . 0.1349 0.03082 0.07008 0.1882 0.002518 0.1443 0.1812 0.144 0.146 92651884 ATG2B . GRCh38 chr14 96289806 96289806 + Splice_Site SNP C C G novel 7316-333 BS_YVRSCEC6 C C c.5857-1G>C p.X1953_splice ENST00000359933 42 31 11 41 40 0 ATG2B,splice_acceptor_variant,,ENST00000359933,NM_018036.5;ATG2B,downstream_gene_variant,,ENST00000261834,;ATG2B,downstream_gene_variant,,ENST00000554151,;ATG2B,splice_acceptor_variant,,ENST00000555263,;ATG2B,downstream_gene_variant,,ENST00000553643,; G ENSG00000066739 ENST00000359933 Transcript splice_acceptor_variant 1 -1 ATG2B HGNC HGNC:20187 protein_coding YES CCDS9944.2 ENSP00000353010 Q96BY7 UPI000155D51F NM_018036.5 40/41 HIGH 1 SNV 5 PASS CCT . . 96289806 OCA2 . GRCh38 chr15 27983472 27983472 + Missense_Mutation SNP A A G novel 7316-333 BS_YVRSCEC6 A A c.1376T>C p.Val459Ala p.V459A ENST00000354638 14/24 56 39 16 42 42 0 OCA2,missense_variant,p.Val459Ala,ENST00000354638,NM_000275.2;OCA2,missense_variant,p.Val435Ala,ENST00000353809,NM_001300984.1; G ENSG00000104044 ENST00000354638 Transcript missense_variant 1532/3186 1376/2517 459/838 V/A gTg/gCg 1 -1 OCA2 HGNC HGNC:8101 protein_coding YES CCDS10020.1 ENSP00000346659 Q04671 UPI000013D158 NM_000275.2 deleterious(0.03) possibly_damaging(0.79) 14/24 Pfam_domain:PF03600,hmmpanther:PTHR43568,hmmpanther:PTHR43568:SF1,cd01116 MODERATE 1 SNV 1 1 PASS CAC . . 27983472 WDR76 . GRCh38 chr15 43835079 43835079 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.481C>T p.Pro161Ser p.P161S ENST00000263795 3/13 63 51 10 46 44 0 WDR76,missense_variant,p.Pro161Ser,ENST00000263795,NM_024908.3;WDR76,missense_variant,p.Pro97Ser,ENST00000381246,NM_001167941.1;WDR76,missense_variant,p.Pro97Ser,ENST00000452115,; T ENSG00000092470 ENST00000263795 Transcript missense_variant 551/3978 481/1881 161/626 P/S Ccc/Tcc 1 1 WDR76 HGNC HGNC:25773 protein_coding YES CCDS10106.1 ENSP00000263795 Q9H967 UPI000013D462 NM_024908.3 tolerated(0.36) benign(0.007) 3/13 Gene3D:2.130.10.10,hmmpanther:PTHR14773,hmmpanther:PTHR14773:SF0 MODERATE 1 SNV 1 PASS ACC . . 43835079 PRTG . GRCh38 chr15 55680092 55680092 + Missense_Mutation SNP C C T rs1283248638 7316-333 BS_YVRSCEC6 C C c.935G>A p.Arg312His p.R312H ENST00000389286 6/20 39 25 14 55 54 0 PRTG,missense_variant,p.Arg312His,ENST00000389286,NM_173814.5;PRTG,upstream_gene_variant,,ENST00000561465,;AC012378.1,upstream_gene_variant,,ENST00000561155,;PRTG,upstream_gene_variant,,ENST00000559842,; T ENSG00000166450 ENST00000389286 Transcript missense_variant 983/11967 935/3453 312/1150 R/H cGc/cAc rs1283248638,COSM2218452 1 -1 PRTG HGNC HGNC:26373 protein_coding YES CCDS42040.1 ENSP00000373937 Q2VWP7 UPI00001555A7 NM_173814.5 deleterious(0) probably_damaging(0.999) 6/20 PROSITE_profiles:PS50835,cd00096,hmmpanther:PTHR44228:SF2,hmmpanther:PTHR44228,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 8.142e-06 8.983e-06 3.251e-05 55680092 RNF111 . GRCh38 chr15 59030825 59030826 + Frame_Shift_Ins INS - - TT rs1294842810 7316-333 BS_YVRSCEC6 - - c.4_5insTT p.Ser2PhefsTer14 p.S2Ffs*14 ENST00000561186 1/13 57 47 9 31 31 0 RNF111,frameshift_variant,p.Ser2PhefsTer14,ENST00000348370,NM_001270529.1,NM_017610.7;RNF111,frameshift_variant,p.Ser2PhefsTer14,ENST00000559209,NM_001270528.1;RNF111,frameshift_variant,p.Ser2PhefsTer14,ENST00000557998,NM_001270530.1;RNF111,frameshift_variant,p.Ser2PhefsTer14,ENST00000561186,;RNF111,frameshift_variant,p.Ser25PhefsTer14,ENST00000559160,;RNF111,frameshift_variant,p.Ser2PhefsTer14,ENST00000559757,;RNF111,upstream_gene_variant,,ENST00000559592,; TT ENSG00000157450 ENST00000561186 Transcript frameshift_variant 3-4/4536 3-4/3012 1-2/1003 -/X -/TT rs1294842810 1 1 RNF111 HGNC HGNC:17384 protein_coding YES CCDS81888.1 ENSP00000453015 Q6ZNA4 UPI0001AE6959 1/13 hmmpanther:PTHR44815 HIGH 1 insertion 2 1 PASS TGT . . 59030825 RNF111 . GRCh38 chr15 59030833 59030834 + Nonsense_Mutation INS - - ATACGGC rs1288828616 7316-333 BS_YVRSCEC6 - - c.11_12insATACGGC p.Trp4Ter p.W4* ENST00000561186 1/13 58 48 10 33 33 0 RNF111,stop_gained,p.Trp4Ter,ENST00000348370,NM_001270529.1,NM_017610.7;RNF111,stop_gained,p.Trp4Ter,ENST00000559209,NM_001270528.1;RNF111,stop_gained,p.Trp4Ter,ENST00000557998,NM_001270530.1;RNF111,stop_gained,p.Trp4Ter,ENST00000561186,;RNF111,stop_gained,p.Trp27Ter,ENST00000559160,;RNF111,stop_gained,p.Trp4Ter,ENST00000559757,;RNF111,upstream_gene_variant,,ENST00000559592,; ATACGGC ENSG00000157450 ENST00000561186 Transcript stop_gained,frameshift_variant 11-12/4536 11-12/3012 4/1003 W/*YGX tgg/tgATACGGCg rs1288828616 1 1 RNF111 HGNC HGNC:17384 protein_coding YES CCDS81888.1 ENSP00000453015 Q6ZNA4 UPI0001AE6959 1/13 hmmpanther:PTHR44815 HIGH 1 insertion 2 PASS TGG . . 59030833 RNF111 . GRCh38 chr15 59030837 59030845 + In_Frame_Del DEL TCCTGAATA TCCTGAATA - novel 7316-333 BS_YVRSCEC6 TCCTGAATA TCCTGAATA c.16_24del p.Pro6_Tyr8del p.P6_Y8del ENST00000561186 1/13 59 49 10 33 33 0 RNF111,inframe_deletion,p.Pro6_Tyr8del,ENST00000348370,NM_001270529.1,NM_017610.7;RNF111,inframe_deletion,p.Pro6_Tyr8del,ENST00000559209,NM_001270528.1;RNF111,inframe_deletion,p.Pro6_Tyr8del,ENST00000557998,NM_001270530.1;RNF111,inframe_deletion,p.Pro6_Tyr8del,ENST00000561186,;RNF111,inframe_deletion,p.Pro29_Tyr31del,ENST00000559160,;RNF111,inframe_deletion,p.Pro6_Tyr8del,ENST00000559757,;RNF111,upstream_gene_variant,,ENST00000559592,; - ENSG00000157450 ENST00000561186 Transcript inframe_deletion 15-23/4536 15-23/3012 5-8/1003 TPEY/T acTCCTGAATAt/act 1 1 RNF111 HGNC HGNC:17384 protein_coding YES CCDS81888.1 ENSP00000453015 Q6ZNA4 UPI0001AE6959 1/13 hmmpanther:PTHR44815 MODERATE 1 deletion 2 1 PASS ACTCCTGAATAT . . 59030836 DNAH3 . GRCh38 chr16 21098635 21098635 + Missense_Mutation SNP C C T rs769897712 7316-333 BS_YVRSCEC6 C C c.2501G>A p.Arg834Gln p.R834Q ENST00000261383 17/62 65 22 42 32 32 0 DNAH3,missense_variant,p.Arg834Gln,ENST00000261383,NM_017539.2; T ENSG00000158486 ENST00000261383 Transcript missense_variant 2501/12394 2501/12351 834/4116 R/Q cGg/cAg rs769897712,COSM5529949,COSM5529948 1 -1 DNAH3 HGNC HGNC:2949 protein_coding YES CCDS10594.1 ENSP00000261383 Q8TD57 UPI00001100F2 NM_017539.2 tolerated(0.51) benign(0) 17/62 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCG . . 1.632e-05 6.538e-05 2.993e-05 5.825e-05 8.999e-06 21098635 HS3ST4 . GRCh38 chr16 26135833 26135833 + Missense_Mutation SNP G G A rs762212461 7316-333 BS_YVRSCEC6 G G c.956G>A p.Arg319Gln p.R319Q ENST00000331351 2/2 63 43 20 39 39 0 HS3ST4,missense_variant,p.Arg319Gln,ENST00000331351,NM_006040.2;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,; A ENSG00000182601 ENST00000331351 Transcript missense_variant 1348/3203 956/1371 319/456 R/Q cGg/cAg rs762212461,COSM3108571,COSM3108570 1 1 HS3ST4 HGNC HGNC:5200 protein_coding YES CCDS53995.1 ENSP00000330606 Q9Y661 UPI000040938A NM_006040.2 tolerated(0.11) probably_damaging(0.998) 2/2 hmmpanther:PTHR10605:SF11,hmmpanther:PTHR10605,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGG . . 1.224e-05 2.708e-05 26135833 ZNF768 . GRCh38 chr16 30525014 30525014 + Missense_Mutation SNP T T C novel 7316-333 BS_YVRSCEC6 T T c.1126A>G p.Thr376Ala p.T376A ENST00000380412 2/2 82 72 8 43 42 0 ZNF768,missense_variant,p.Thr376Ala,ENST00000380412,NM_024671.3;ZNF768,missense_variant,p.Thr345Ala,ENST00000562803,;ITGAL,downstream_gene_variant,,ENST00000356798,NM_002209.2;ITGAL,downstream_gene_variant,,ENST00000358164,NM_001114380.1;ITGAL,downstream_gene_variant,,ENST00000433423,;AC002310.6,upstream_gene_variant,,ENST00000624451,;ITGAL,downstream_gene_variant,,ENST00000564632,;AC002310.5,downstream_gene_variant,,ENST00000569360,; C ENSG00000169957 ENST00000380412 Transcript missense_variant 1302/2315 1126/1623 376/540 T/A Acc/Gcc 1 -1 ZNF768 HGNC HGNC:26273 protein_coding YES CCDS10681.2 ENSP00000369777 Q9H5H4 A0A024QZC8 UPI00001FFEED NM_024671.3 tolerated_low_confidence(0.23) benign(0) 2/2 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR45221,hmmpanther:PTHR45221:SF2,SMART_domains:SM00355 MODERATE 1 SNV 1 PASS GTG . . 30525014 ZNF689 . GRCh38 chr16 30604709 30604709 + Missense_Mutation SNP C C A novel 7316-333 BS_YVRSCEC6 C C c.1058G>T p.Arg353Leu p.R353L ENST00000287461 3/3 69 53 8 45 42 1 ZNF689,missense_variant,p.Arg353Leu,ENST00000287461,NM_138447.2;AC093249.2,intron_variant,,ENST00000563540,;ZNF689,non_coding_transcript_exon_variant,,ENST00000566673,;ZNF689,non_coding_transcript_exon_variant,,ENST00000563304,;ZNF689,non_coding_transcript_exon_variant,,ENST00000565440,;ZNF689,downstream_gene_variant,,ENST00000564262,;ZNF689,downstream_gene_variant,,ENST00000565710,; A ENSG00000156853 ENST00000287461 Transcript missense_variant 1396/3547 1058/1503 353/500 R/L cGc/cTc 1 -1 ZNF689 HGNC HGNC:25173 protein_coding YES CCDS10686.1 ENSP00000287461 Q96CS4 UPI000006CDAD NM_138447.2 tolerated(0.1) possibly_damaging(0.719) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF695,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GCG . . 30604709 DNAAF1 . GRCh38 chr16 84170266 84170266 + Missense_Mutation SNP A A G rs555150732 7316-333 BS_YVRSCEC6 A A c.1438A>G p.Lys480Glu p.K480E ENST00000378553 8/12 62 41 13 32 30 1 DNAAF1,missense_variant,p.Lys480Glu,ENST00000378553,NM_178452.5;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,NM_001318756.1;DNAAF1,downstream_gene_variant,,ENST00000567666,;DNAAF1,upstream_gene_variant,,ENST00000623406,;DNAAF1,missense_variant,p.Glu417Gly,ENST00000563093,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,; G ENSG00000154099 ENST00000378553 Transcript missense_variant 1562/2379 1438/2178 480/725 K/E Aag/Gag rs555150732 1 1 DNAAF1 HGNC HGNC:30539 protein_coding YES CCDS10943.2 ENSP00000367815 Q8NEP3 A0A140VJN4 UPI000059D3C9 NM_178452.5 tolerated(1) benign(0) 8/12 mobidb-lite MODERATE 1 SNV 1 1 PASS GAA . . 84170266 ANKRD11 . GRCh38 chr16 89282101 89282101 + Missense_Mutation SNP C C A novel 7316-333 BS_YVRSCEC6 C C c.4441G>T p.Ala1481Ser p.A1481S ENST00000301030 9/13 57 49 8 29 28 0 ANKRD11,missense_variant,p.Ala1481Ser,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,missense_variant,p.Ala1481Ser,ENST00000378330,NM_001256182.1;ANKRD11,missense_variant,p.Ala1481Ser,ENST00000642600,;ANKRD11,intron_variant,,ENST00000644285,;ANKRD11,downstream_gene_variant,,ENST00000613312,;ANKRD11,downstream_gene_variant,,ENST00000642443,;ANKRD11,downstream_gene_variant,,ENST00000642695,;ANKRD11,downstream_gene_variant,,ENST00000644784,;ANKRD11,downstream_gene_variant,,ENST00000646838,;ANKRD11,downstream_gene_variant,,ENST00000567699,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000568100,;ANKRD11,upstream_gene_variant,,ENST00000623388,;ANKRD11,downstream_gene_variant,,ENST00000643964,;ANKRD11,downstream_gene_variant,,ENST00000645212,;ANKRD11,downstream_gene_variant,,ENST00000646345,; A ENSG00000167522 ENST00000301030 Transcript missense_variant 4902/9312 4441/7992 1481/2663 A/S Gcg/Tcg 1 -1 ANKRD11 HGNC HGNC:21316 protein_coding YES CCDS32513.1 ENSP00000301030 Q6UB99 UPI00004569E1 NM_001256183.1,NM_013275.5 tolerated(0.99) benign(0) 9/13 mobidb-lite,hmmpanther:PTHR24145 MODERATE 1 SNV 5 1 PASS GCA . . 89282101 DEF8 . GRCh38 chr16 89964285 89964285 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.1301C>T p.Ala434Val p.A434V ENST00000268676 11/13 55 44 9 35 33 0 DEF8,missense_variant,p.Ala373Val,ENST00000563594,NM_001242818.1;DEF8,missense_variant,p.Ala373Val,ENST00000617948,NM_001242820.1;DEF8,missense_variant,p.Ala434Val,ENST00000268676,NM_207514.2;DEF8,missense_variant,p.Ala363Val,ENST00000570182,NM_001242816.1;DEF8,missense_variant,p.Ala373Val,ENST00000569453,;DEF8,missense_variant,p.Ala356Val,ENST00000563795,NM_001242819.1;DEF8,missense_variant,p.Ala313Val,ENST00000567874,NM_001242817.1;DEF8,intron_variant,,ENST00000561959,;DEF8,downstream_gene_variant,,ENST00000418391,NM_017702.3,NM_001242822.1;DEF8,downstream_gene_variant,,ENST00000562578,;DEF8,downstream_gene_variant,,ENST00000562986,;DEF8,downstream_gene_variant,,ENST00000610455,NM_001242821.1;DEF8,non_coding_transcript_exon_variant,,ENST00000562163,;DEF8,downstream_gene_variant,,ENST00000562044,;DEF8,downstream_gene_variant,,ENST00000563848,;DEF8,non_coding_transcript_exon_variant,,ENST00000564379,;DEF8,non_coding_transcript_exon_variant,,ENST00000563805,;DEF8,downstream_gene_variant,,ENST00000568760,; T ENSG00000140995 ENST00000268676 Transcript missense_variant 1390/3725 1301/1539 434/512 A/V gCc/gTc 1 1 DEF8 HGNC HGNC:25969 protein_coding YES CCDS10989.1 ENSP00000268676 Q6ZN54 UPI0000359601 NM_207514.2 tolerated(0.18) probably_damaging(0.952) 11/13 Gene3D:3.30.60.20,Pfam_domain:PF13901,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF3,SMART_domains:SM01175 MODERATE 1 SNV 2 PASS GCC . . 89964285 TP53 . GRCh38 chr17 7675088 7675088 + Missense_Mutation SNP C T T rs28934578 7316-333 BS_YVRSCEC6 C C c.524G>A p.Arg175His p.R175H ENST00000269305 5/11 40 3 36 42 42 0 TP53,missense_variant,p.Arg175His,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg175His,ENST00000420246,;TP53,missense_variant,p.Arg136His,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg136His,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg175His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg136His,ENST00000610538,;TP53,missense_variant,p.Arg175His,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,missense_variant,p.Arg136His,ENST00000620739,;TP53,missense_variant,p.Arg175His,ENST00000445888,;TP53,missense_variant,p.Arg136His,ENST00000619485,;TP53,missense_variant,p.Arg43His,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,missense_variant,p.Arg16His,ENST00000618944,;TP53,missense_variant,p.Arg43His,ENST00000504290,;TP53,missense_variant,p.Arg16His,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,missense_variant,p.Arg43His,ENST00000504937,;TP53,missense_variant,p.Arg16His,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,missense_variant,p.Arg175His,ENST00000359597,;TP53,missense_variant,p.Arg164His,ENST00000615910,;TP53,missense_variant,p.Arg175His,ENST00000413465,;TP53,missense_variant,p.Arg43His,ENST00000509690,;TP53,missense_variant,p.Arg82His,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.Arg136His,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,; T ENSG00000141510 ENST00000269305 Transcript missense_variant 714/2579 524/1182 175/393 R/H cGc/cAc CM951224,CM062017,TP53_g.12512G>A,rs28934578,COSM99914,COSM99024,COSM99023,COSM99022,COSM45416,COSM4336268,COSM4271918,COSM3355994,COSM2744851,COSM2744850,COSM2744849,COSM2744848,COSM2744847,COSM2744846,COSM1679512,COSM1679511,COSM1679510,COSM1679509,COSM1679508,COSM1640851,COSM10718,COSM10648 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 tolerated(0.11) benign(0.319) 5/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 not_provided,likely_pathogenic,pathogenic 0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 25105660,26900293,21264207,17606709,18511570,23161690,24929325,8825920,9047394,15977174,28163917,25404506 MODERATE 1 SNV 1 1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS GCG . . 4.064e-06 8.965e-06 7675088 ALOX15B . GRCh38 chr17 8039911 8039911 + Missense_Mutation SNP C C T rs770588486 7316-333 BS_YVRSCEC6 C C c.377C>T p.Ser126Phe p.S126F ENST00000380183 3/14 47 38 6 41 39 0 ALOX15B,missense_variant,p.Ser126Phe,ENST00000380183,NM_001141.2;ALOX15B,missense_variant,p.Ser126Phe,ENST00000380173,NM_001039130.1;ALOX15B,missense_variant,p.Ser126Phe,ENST00000572022,;ALOX15B,missense_variant,p.Ser126Phe,ENST00000573359,NM_001039131.1;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;,regulatory_region_variant,,ENSR00000090940,; T ENSG00000179593 ENST00000380183 Transcript missense_variant 516/2739 377/2031 126/676 S/F tCc/tTc rs770588486 1 1 ALOX15B HGNC HGNC:434 protein_coding YES CCDS11128.1 ENSP00000369530 O15296 UPI0000140991 NM_001141.2 tolerated(0.7) benign(0.122) 3/14 Superfamily_domains:SSF48484,PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF58 MODERATE 1 SNV 1 PASS TCC . . 4.075e-06 5.802e-05 8039911 MYO19 . GRCh38 chr17 36528100 36528100 + Missense_Mutation SNP C C T rs763595894 7316-333 BS_YVRSCEC6 C C c.115G>A p.Asp39Asn p.D39N ENST00000614623 4/26 36 29 7 41 40 0 MYO19,missense_variant,p.Asp39Asn,ENST00000614623,NM_001163735.1;MYO19,missense_variant,p.Asp39Asn,ENST00000610930,NM_025109.5;MYO19,missense_variant,p.Asp39Asn,ENST00000621344,NM_001033580.2;MYO19,missense_variant,p.Asp39Asn,ENST00000616159,;MYO19,missense_variant,p.Asp39Asn,ENST00000622055,;MYO19,missense_variant,p.Asp39Asn,ENST00000616207,;MYO19,missense_variant,p.Asp39Asn,ENST00000613551,;MYO19,intron_variant,,ENST00000620640,;MYO19,downstream_gene_variant,,ENST00000620644,;MYO19,missense_variant,p.Asp39Asn,ENST00000610992,;MYO19,missense_variant,p.Asp39Asn,ENST00000621550,; T ENSG00000278259 ENST00000614623 Transcript missense_variant 638/4054 115/2913 39/970 D/N Gac/Aac rs763595894 1 -1 MYO19 HGNC HGNC:26234 protein_coding YES CCDS54112.1 ENSP00000479518 Q96H55 UPI000173AA19 NM_001163735.1 deleterious(0) probably_damaging(1) 4/26 Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF289,SMART_domains:SM00242,Superfamily_domains:SSF52540 MODERATE 1 SNV 2 PASS TCA . . 8.125e-06 1.791e-05 36528100 GIP . GRCh38 chr17 48961791 48961791 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.286G>A p.Ala96Thr p.A96T ENST00000357424 4/6 50 41 9 40 40 0 GIP,missense_variant,p.Ala96Thr,ENST00000357424,NM_004123.2;,regulatory_region_variant,,ENSR00000095413,; T ENSG00000159224 ENST00000357424 Transcript missense_variant 387/716 286/462 96/153 A/T Gct/Act 1 -1 GIP HGNC HGNC:4270 protein_coding YES CCDS11542.1 ENSP00000350005 P09681 UPI000012B4C0 NM_004123.2 tolerated(0.07) benign(0.055) 4/6 hmmpanther:PTHR15211 MODERATE 1 SNV 1 PASS GCC . . 48961791 QRICH2 . GRCh38 chr17 76292277 76292277 + Missense_Mutation SNP A A T rs113162124 7316-333 BS_YVRSCEC6 A A c.1952T>A p.Val651Asp p.V651D ENST00000262765 4/19 82 65 9 59 56 0 QRICH2,missense_variant,p.Val817Asp,ENST00000636395,;QRICH2,missense_variant,p.Val651Asp,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; T ENSG00000129646 ENST00000262765 Transcript missense_variant 2132/5357 1952/4992 651/1663 V/D gTt/gAt rs113162124,COSM1494109 1 -1 QRICH2 HGNC HGNC:25326 protein_coding YES CCDS32741.1 ENSP00000262765 Q9H0J4 UPI000006FECD NM_032134.2 tolerated(0.3) benign(0) 4/19 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 9.22e-06 7.173e-05 76292277 ZNF519 . GRCh38 chr18 14105099 14105099 + Missense_Mutation SNP C C T rs141714861 7316-333 BS_YVRSCEC6 C C c.1441G>A p.Val481Ile p.V481I ENST00000590202 3/3 89 73 11 42 39 0 ZNF519,missense_variant,p.Val481Ile,ENST00000590202,NM_145287.3;ZNF519,intron_variant,,ENST00000589498,;AC006557.3,non_coding_transcript_exon_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,non_coding_transcript_exon_variant,,ENST00000624133,;ZNF519,intron_variant,,ENST00000587419,; T ENSG00000175322 ENST00000590202 Transcript missense_variant 1594/2830 1441/1623 481/540 V/I Gtc/Atc rs141714861,COSM4744121 1 -1 ZNF519 HGNC HGNC:30574 protein_coding YES CCDS32797.1 ENSP00000464872 Q8TB69 UPI0000201A41 NM_145287.3 tolerated(1) benign(0.007) 3/3 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF97,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ACT . . 1.287e-05 6.527e-05 3.499e-05 14105099 ZNF519 . GRCh38 chr18 14105194 14105194 + Missense_Mutation SNP C C T rs147242149 7316-333 BS_YVRSCEC6 C C c.1346G>A p.Arg449Gln p.R449Q ENST00000590202 3/3 80 61 9 37 35 1 ZNF519,missense_variant,p.Arg449Gln,ENST00000590202,NM_145287.3;ZNF519,intron_variant,,ENST00000589498,;AC006557.3,non_coding_transcript_exon_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,non_coding_transcript_exon_variant,,ENST00000624133,;ZNF519,intron_variant,,ENST00000587419,; T ENSG00000175322 ENST00000590202 Transcript missense_variant 1499/2830 1346/1623 449/540 R/Q cGa/cAa rs147242149,COSM6235356 1 -1 ZNF519 HGNC HGNC:30574 protein_coding YES CCDS32797.1 ENSP00000464872 Q8TB69 UPI0000201A41 NM_145287.3 tolerated(0.85) benign(0.01) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF97,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.00227 0.01663 0,1 MODERATE 1 SNV 1 0,1 PASS TCG . . 1.652e-05 6.626e-05 1.818e-05 3.308e-05 14105194 ZNF519 . GRCh38 chr18 14105248 14105248 + Missense_Mutation SNP T T G rs145735313 7316-333 BS_YVRSCEC6 T T c.1292A>C p.His431Pro p.H431P ENST00000590202 3/3 82 64 13 39 36 0 ZNF519,missense_variant,p.His431Pro,ENST00000590202,NM_145287.3;ZNF519,intron_variant,,ENST00000589498,;AC006557.3,downstream_gene_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,non_coding_transcript_exon_variant,,ENST00000624133,;ZNF519,intron_variant,,ENST00000587419,; G ENSG00000175322 ENST00000590202 Transcript missense_variant 1445/2830 1292/1623 431/540 H/P cAc/cCc rs145735313,COSM3362468 1 -1 ZNF519 HGNC HGNC:30574 protein_coding YES CCDS32797.1 ENSP00000464872 Q8TB69 UPI0000201A41 NM_145287.3 tolerated(1) benign(0) 3/3 Gene3D:2.30.30.380,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF97,Superfamily_domains:SSF57667 0.0062 0.0008 0.0159 0.0149 0.0041 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 14105248 RMC1 . GRCh38 chr18 23529224 23529224 + Frame_Shift_Del DEL C C - novel 7316-333 BS_YVRSCEC6 C C c.1343del p.Pro448ArgfsTer32 p.P448Rfs*32 ENST00000269221 15/20 78 66 7 36 36 0 RMC1,frameshift_variant,p.Pro448ArgfsTer32,ENST00000269221,NM_013326.4;RMC1,frameshift_variant,p.Pro400ArgfsTer32,ENST00000590868,NM_001318709.1,NM_001318707.1;RMC1,frameshift_variant,p.Pro400ArgfsTer32,ENST00000615148,NM_001276342.1,NM_001318708.1;NPC1,3_prime_UTR_variant,,ENST00000593280,;NPC1,intron_variant,,ENST00000590723,;NPC1,intron_variant,,ENST00000591107,;NPC1,downstream_gene_variant,,ENST00000269228,NM_000271.4;NPC1,downstream_gene_variant,,ENST00000586150,;NPC1,downstream_gene_variant,,ENST00000591051,;RMC1,upstream_gene_variant,,ENST00000591367,;RMC1,3_prime_UTR_variant,,ENST00000590870,;RMC1,3_prime_UTR_variant,,ENST00000589215,;RMC1,non_coding_transcript_exon_variant,,ENST00000590387,;NPC1,downstream_gene_variant,,ENST00000587163,;NPC1,downstream_gene_variant,,ENST00000588867,;RMC1,upstream_gene_variant,,ENST00000589409,;RMC1,upstream_gene_variant,,ENST00000592682,;RMC1,upstream_gene_variant,,ENST00000593081,; - ENSG00000141452 ENST00000269221 Transcript frameshift_variant 1452/2162 1342/1974 448/657 P/X Ccg/cg 1 1 RMC1 HGNC HGNC:24326 protein_coding YES CCDS32803.1 ENSP00000269221 Q96DM3 UPI000013D80D NM_013326.4 15/20 hmmpanther:PTHR12897 HIGH 1 deletion 1 1 PASS GGCC . . 23529223 CDH2 . GRCh38 chr18 27985600 27985600 + Missense_Mutation SNP C C T rs1345401959 7316-333 BS_YVRSCEC6 C C c.1903G>A p.Gly635Arg p.G635R ENST00000269141 12/16 84 69 14 60 59 0 CDH2,missense_variant,p.Gly635Arg,ENST00000269141,NM_001792.4;CDH2,missense_variant,p.Gly604Arg,ENST00000399380,NM_001308176.1; T ENSG00000170558 ENST00000269141 Transcript missense_variant 2327/4332 1903/2721 635/906 G/R Gga/Aga rs1345401959 1 -1 CDH2 HGNC HGNC:1759 protein_coding YES CCDS11891.1 ENSP00000269141 P19022 A0A024RC42 UPI000013D7FD NM_001792.4 deleterious(0.01) probably_damaging(0.996) 12/16 Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF79,hmmpanther:PTHR24027 MODERATE 1 SNV 1 PASS CCA . . 4.063e-06 8.962e-06 27985600 MUC16 . GRCh38 chr19 8966505 8966505 + Missense_Mutation SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.10265C>T p.Ala3422Val p.A3422V ENST00000397910 3/84 95 79 16 30 30 0 MUC16,missense_variant,p.Ala3422Val,ENST00000397910,NM_024690.2; A ENSG00000181143 ENST00000397910 Transcript missense_variant 10469/43816 10265/43524 3422/14507 A/V gCt/gTt 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0.352) 3/84 mobidb-lite MODERATE 1 SNV 5 1 PASS AGC . . 8966505 AKAP8L . GRCh38 chr19 15380331 15380331 + Missense_Mutation SNP T T C novel 7316-333 BS_YVRSCEC6 T T c.1732A>G p.Ile578Val p.I578V ENST00000397410 14/14 80 65 13 37 35 1 AKAP8L,missense_variant,p.Ile578Val,ENST00000397410,NM_014371.3;AKAP8L,missense_variant,p.Ile517Val,ENST00000595465,NM_001291478.1;AKAP8,upstream_gene_variant,,ENST00000269701,NM_005858.3;AC005785.1,intron_variant,,ENST00000597164,;AKAP8L,downstream_gene_variant,,ENST00000600065,;AC005785.2,downstream_gene_variant,,ENST00000624655,;AKAP8L,3_prime_UTR_variant,,ENST00000594594,;AKAP8L,3_prime_UTR_variant,,ENST00000609519,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000593845,;AC005785.1,non_coding_transcript_exon_variant,,ENST00000597549,;AKAP8,upstream_gene_variant,,ENST00000537303,;AKAP8,upstream_gene_variant,,ENST00000595416,;AKAP8,upstream_gene_variant,,ENST00000599883,;,regulatory_region_variant,,ENSR00000107643,; C ENSG00000011243 ENST00000397410 Transcript missense_variant 1863/2146 1732/1941 578/646 I/V Atc/Gtc 1 -1 AKAP8L HGNC HGNC:29857 protein_coding YES CCDS46005.1 ENSP00000380557 Q9ULX6 UPI000012FC34 NM_014371.3 tolerated_low_confidence(0.87) benign(0) 14/14 hmmpanther:PTHR12190,hmmpanther:PTHR12190:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATC . . 15380331 GTPBP3 . GRCh38 chr19 17341172 17341172 + Missense_Mutation SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.1199G>T p.Arg400Leu p.R400L ENST00000358792 7/8 93 74 19 47 47 0 GTPBP3,missense_variant,p.Arg368Leu,ENST00000324894,NM_032620.3;GTPBP3,missense_variant,p.Arg347Leu,ENST00000600625,NM_001128855.2;GTPBP3,missense_variant,p.Arg400Leu,ENST00000358792,NM_133644.3;GTPBP3,missense_variant,p.Arg390Leu,ENST00000361619,NM_001195422.1;GTPBP3,non_coding_transcript_exon_variant,,ENST00000598038,;GTPBP3,downstream_gene_variant,,ENST00000593297,;GTPBP3,downstream_gene_variant,,ENST00000594345,;GTPBP3,downstream_gene_variant,,ENST00000595381,;GTPBP3,downstream_gene_variant,,ENST00000595951,;GTPBP3,downstream_gene_variant,,ENST00000596166,;GTPBP3,downstream_gene_variant,,ENST00000596218,;GTPBP3,downstream_gene_variant,,ENST00000596941,;GTPBP3,downstream_gene_variant,,ENST00000598532,;GTPBP3,downstream_gene_variant,,ENST00000600995,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000602056,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000596125,;GTPBP3,non_coding_transcript_exon_variant,,ENST00000595194,;GTPBP3,downstream_gene_variant,,ENST00000594018,;GTPBP3,downstream_gene_variant,,ENST00000594703,;GTPBP3,downstream_gene_variant,,ENST00000596001,;GTPBP3,downstream_gene_variant,,ENST00000598493,;GTPBP3,downstream_gene_variant,,ENST00000599329,;GTPBP3,downstream_gene_variant,,ENST00000599429,;GTPBP3,downstream_gene_variant,,ENST00000600610,;GTPBP3,downstream_gene_variant,,ENST00000601213,;GTPBP3,downstream_gene_variant,,ENST00000601261,;GTPBP3,downstream_gene_variant,,ENST00000601983,;GTPBP3,downstream_gene_variant,,ENST00000602165,;,regulatory_region_variant,,ENSR00000107885,;,TF_binding_site_variant,,MA0139.1,;,TF_binding_site_variant,,MA0139.1,; T ENSG00000130299 ENST00000358792 Transcript missense_variant 1256/1951 1199/1575 400/524 R/L cGc/cTc 1 1 GTPBP3 HGNC HGNC:14880 protein_coding YES CCDS32950.1 ENSP00000351644 Q969Y2 UPI000059D6A7 NM_133644.3 deleterious(0.01) benign(0.336) 7/8 HAMAP:MF_00379,PROSITE_profiles:PS51709,cd04164,hmmpanther:PTHR42714,hmmpanther:PTHR42714:SF2,Gene3D:1.20.120.430,Pfam_domain:PF12631,Pfam_domain:PF01926,Superfamily_domains:SSF52540 MODERATE 1 SNV 2 1 PASS CGC . . 17341172 ZNF429 . GRCh38 chr19 21536917 21536917 + Missense_Mutation SNP T T A rs143458227 7316-333 BS_YVRSCEC6 T T c.864T>A p.Asp288Glu p.D288E ENST00000358491 4/4 70 57 9 60 57 0 ZNF429,missense_variant,p.Asp288Glu,ENST00000358491,NM_001001415.2;ZNF429,missense_variant,p.Asp260Glu,ENST00000618549,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,; A ENSG00000197013 ENST00000358491 Transcript missense_variant 1072/2233 864/2025 288/674 D/E gaT/gaA rs143458227,COSM6281336 1 1 ZNF429 HGNC HGNC:20817 protein_coding YES CCDS42537.1 ENSP00000351280 Q86V71 UPI000022ABC2 NM_001001415.2 tolerated(1) benign(0.015) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0.0136 0.0231 0.0179 0.0348 0.002563 0.01414 0,1 MODERATE 1 SNV 3 0,1 1 PASS ATG . . 0.01885 0.001974 0.02454 0.01242 0.0004062 0.04529 0.0151 0.01846 0.02793 21536917 ZNF257 . GRCh38 chr19 22089090 22089090 + Missense_Mutation SNP T T C rs879178696 7316-333 BS_YVRSCEC6 T T c.1340T>C p.Ile447Thr p.I447T ENST00000594947 4/4 86 66 14 36 34 0 ZNF257,missense_variant,p.Ile447Thr,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; C ENSG00000197134 ENST00000594947 Transcript missense_variant 1484/3874 1340/1692 447/563 I/T aTt/aCt rs879178696 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS ATT . . 22089090 ZNF729 . GRCh38 chr19 22314702 22314702 + Missense_Mutation SNP A A G rs767999986 7316-333 BS_YVRSCEC6 A A c.1285A>G p.Lys429Glu p.K429E ENST00000601693 4/4 99 86 10 42 42 0 ZNF729,missense_variant,p.Lys429Glu,ENST00000601693,NM_001242680.1; G ENSG00000196350 ENST00000601693 Transcript missense_variant 1403/3877 1285/3759 429/1252 K/E Aag/Gag rs767999986,COSM6238093 1 1 ZNF729 HGNC HGNC:32464 protein_coding YES CCDS59368.1 ENSP00000469582 A6NN14 UPI000042600C NM_001242680.1 tolerated(1) benign(0.046) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS AAA . . 22314702 ZNF729 . GRCh38 chr19 22315132 22315132 + Missense_Mutation SNP G G A rs762491262 7316-333 BS_YVRSCEC6 G G c.1715G>A p.Cys572Tyr p.C572Y ENST00000601693 4/4 91 81 10 40 40 0 ZNF729,missense_variant,p.Cys572Tyr,ENST00000601693,NM_001242680.1; A ENSG00000196350 ENST00000601693 Transcript missense_variant 1833/3877 1715/3759 572/1252 C/Y tGc/tAc rs762491262 1 1 ZNF729 HGNC HGNC:32464 protein_coding YES CCDS59368.1 ENSP00000469582 A6NN14 UPI000042600C NM_001242680.1 tolerated(1) benign(0.005) 4/4 Gene3D:2.20.25.10,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384:SF125,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TGC . . 2.106e-05 0.0001402 6.138e-05 0.0001895 22315132 ZNF91 . GRCh38 chr19 23359759 23359759 + Missense_Mutation SNP T T C rs1340298673 7316-333 BS_YVRSCEC6 T T c.3220A>G p.Arg1074Gly p.R1074G ENST00000300619 4/4 74 58 11 46 45 0 ZNF91,missense_variant,p.Arg1074Gly,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Arg1042Gly,ENST00000397082,NM_001300951.1;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,; C ENSG00000167232 ENST00000300619 Transcript missense_variant 3426/5489 3220/3576 1074/1191 R/G Aga/Gga rs1340298673,COSM1293765,COSM1293764 1 -1 ZNF91 HGNC HGNC:13166 protein_coding YES CCDS42541.1 ENSP00000300619 Q05481 UPI00002038F9 NM_003430.3 tolerated(1) benign(0.021) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF42,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CTA . . 4.063e-06 8.96e-06 23359759 ZNF91 . GRCh38 chr19 23361420 23361420 + Missense_Mutation SNP A A C rs12976550 7316-333 BS_YVRSCEC6 A A c.1559T>G p.Phe520Cys p.F520C ENST00000300619 4/4 75 56 13 57 53 1 ZNF91,missense_variant,p.Phe520Cys,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Phe488Cys,ENST00000397082,NM_001300951.1;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,; C ENSG00000167232 ENST00000300619 Transcript missense_variant 1765/5489 1559/3576 520/1191 F/C tTt/tGt rs12976550,COSM6445151,COSM6445150 1 -1 ZNF91 HGNC HGNC:13166 protein_coding YES CCDS42541.1 ENSP00000300619 Q05481 UPI00002038F9 NM_003430.3 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF42,hmmpanther:PTHR24376:SF42,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAA . . 23361420 LINC01224 . GRCh38 chr19 23403747 23403747 + Splice_Region SNP C C T novel 7316-333 BS_YVRSCEC6 C C n.537G>A ENST00000596283 5/8 73 61 12 42 42 0 LINC01224,splice_region_variant,,ENST00000596283,;LINC01224,splice_region_variant,,ENST00000600643,;LINC01224,splice_region_variant,,ENST00000593573,;LINC01224,splice_region_variant,,ENST00000601293,;LINC01224,splice_region_variant,,ENST00000601338,;LINC01224,intron_variant,,ENST00000594576,;LINC01224,intron_variant,,ENST00000598922,;LINC01224,intron_variant,,ENST00000602077,;LINC01224,downstream_gene_variant,,ENST00000596763,; T ENSG00000269416 ENST00000596283 Transcript splice_region_variant,non_coding_transcript_exon_variant 537/2766 1 -1 LINC01224 HGNC HGNC:49676 lincRNA YES 5/8 LOW 1 SNV 1 PASS CCC . . 23403747 ZFP82 . GRCh38 chr19 36393071 36393071 + Missense_Mutation SNP G G T rs1248418509 7316-333 BS_YVRSCEC6 G G c.1269C>A p.Asp423Glu p.D423E ENST00000392161 5/5 74 63 8 39 38 0 ZFP82,missense_variant,p.Asp423Glu,ENST00000392161,NM_001321917.1,NM_133466.3,NM_001321918.1,NM_001321919.1;ZFP82,intron_variant,,ENST00000445543,;ZFP82,non_coding_transcript_exon_variant,,ENST00000590993,;,regulatory_region_variant,,ENSR00000109134,; T ENSG00000181007 ENST00000392161 Transcript missense_variant 1512/2623 1269/1599 423/532 D/E gaC/gaA rs1248418509,COSM6285748,COSM6285747 1 -1 ZFP82 HGNC HGNC:28682 protein_coding YES CCDS12493.1 ENSP00000431265 Q8N141 D3Y299 UPI0000071159 NM_001321917.1,NM_133466.3,NM_001321918.1,NM_001321919.1 tolerated(1) benign(0.006) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF246,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGT . . 36393071 RYR1 . GRCh38 chr19 38466123 38466123 + Missense_Mutation SNP C C T rs1272027787 7316-333 BS_YVRSCEC6 C C c.2903C>T p.Pro968Leu p.P968L ENST00000359596 24/106 70 36 34 38 36 0 RYR1,missense_variant,p.Pro968Leu,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Pro968Leu,ENST00000359596,NM_000540.2;RYR1,upstream_gene_variant,,ENST00000594111,;,regulatory_region_variant,,ENSR00000288298,; T ENSG00000196218 ENST00000359596 Transcript missense_variant 2903/15117 2903/15117 968/5038 P/L cCg/cTg rs1272027787,COSM5045007,COSM4485189 1 1 RYR1 HGNC HGNC:10483 protein_coding YES CCDS33011.1 ENSP00000352608 P21817 UPI0000D7E62F NM_000540.2 deleterious(0) probably_damaging(0.986) 24/106 hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF02026 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS CCG . . 4.159e-06 2.995e-05 38466123 RYR1 . GRCh38 chr19 38494543 38494543 + Missense_Mutation SNP C C T rs1202572873 7316-333 BS_YVRSCEC6 C C c.6466C>T p.Leu2156Phe p.L2156F ENST00000359596 39/106 93 83 8 35 33 0 RYR1,missense_variant,p.Leu2156Phe,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Leu2156Phe,ENST00000359596,NM_000540.2;RYR1,upstream_gene_variant,,ENST00000594335,; T ENSG00000196218 ENST00000359596 Transcript missense_variant 6466/15117 6466/15117 2156/5038 L/F Ctc/Ttc rs1202572873 1 1 RYR1 HGNC HGNC:10483 protein_coding YES CCDS33011.1 ENSP00000352608 P21817 UPI0000D7E62F NM_000540.2 deleterious(0.02) probably_damaging(0.994) 39/106 hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Gene3D:1.25.10.30 MODERATE 1 SNV 5 1 PASS GCT . . 38494543 MEGF8 . GRCh38 chr19 42376578 42376578 + Missense_Mutation SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.8341G>T p.Ala2781Ser p.A2781S ENST00000251268 42/42 103 84 17 33 33 0 MEGF8,missense_variant,p.Ala375Ser,ENST00000378073,;MEGF8,missense_variant,p.Ala2714Ser,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Ala2781Ser,ENST00000251268,NM_001271938.1;MEGF8,3_prime_UTR_variant,,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,downstream_gene_variant,,ENST00000599787,; T ENSG00000105429 ENST00000251268 Transcript missense_variant 8341/9549 8341/8538 2781/2845 A/S Gcc/Tcc 1 1 MEGF8 HGNC HGNC:3233 protein_coding YES CCDS62693.1 ENSP00000251268 Q7Z7M0 UPI00005788D1 NM_001271938.1 tolerated(0.15) possibly_damaging(0.629) 42/42 hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287 MODERATE 1 SNV 5 1 PASS GGC . . 42376578 CLASRP . GRCh38 chr19 45070021 45070021 + Splice_Site SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.1875-1G>A p.X625_splice ENST00000221455 105 87 16 30 30 0 CLASRP,splice_acceptor_variant,,ENST00000221455,NM_007056.2;CLASRP,splice_acceptor_variant,,ENST00000391953,NM_001278439.1;CLASRP,splice_acceptor_variant,,ENST00000544944,;CLASRP,missense_variant,p.Arg82Lys,ENST00000591904,;ZNF296,downstream_gene_variant,,ENST00000303809,NM_145288.1;ZNF296,downstream_gene_variant,,ENST00000622376,;CLASRP,splice_acceptor_variant,,ENST00000391952,;CLASRP,splice_acceptor_variant,,ENST00000585615,;CLASRP,splice_acceptor_variant,,ENST00000587472,;CLASRP,non_coding_transcript_exon_variant,,ENST00000592876,;CLASRP,non_coding_transcript_exon_variant,,ENST00000588070,;CLASRP,downstream_gene_variant,,ENST00000585432,; A ENSG00000104859 ENST00000221455 Transcript splice_acceptor_variant 1 1 CLASRP HGNC HGNC:17731 protein_coding YES CCDS12652.2 ENSP00000221455 A0A0A0MQS2 UPI00003D7B96 NM_007056.2 18/20 HIGH 1 SNV 1 PASS AGG . . 45070021 SELENOW . GRCh38 chr19 47781105 47781105 + Splice_Region SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.109-3C>T ENST00000601048 82 71 11 51 51 0 SELENOW,splice_region_variant,,ENST00000612212,;SELENOW,splice_region_variant,,ENST00000509570,;SELENOW,splice_region_variant,,ENST00000593892,;SELENOW,splice_region_variant,,ENST00000595615,;SELENOW,splice_region_variant,,ENST00000601048,NM_003009.2;SELENOW,splice_region_variant,,ENST00000601419,;SELENOW,downstream_gene_variant,,ENST00000595509,;SELENOW,downstream_gene_variant,,ENST00000599302,;SELENOW,downstream_gene_variant,,ENST00000599590,;SELENOW,splice_region_variant,,ENST00000598273,;SELENOW,splice_region_variant,,ENST00000598956,;SELENOW,splice_region_variant,,ENST00000599874,;SELENOW,splice_region_variant,,ENST00000601937,;SELENOW,non_coding_transcript_exon_variant,,ENST00000598083,;SELENOW,non_coding_transcript_exon_variant,,ENST00000599627,;SELENOW,upstream_gene_variant,,ENST00000602163,; T ENSG00000178980 ENST00000601048 Transcript splice_region_variant,intron_variant 1 1 SELENOW HGNC HGNC:10752 protein_coding YES CCDS59402.1 ENSP00000473185 P63302 UPI0000161B36 NM_003009.2 3/5 LOW 1 SNV 1 PASS TCA . . 47781105 ZNF534 . GRCh38 chr19 52438490 52438491 + Frame_Shift_Ins INS - - GG novel 7316-333 BS_YVRSCEC6 - - c.1069_1070insGG p.His357ArgfsTer88 p.H357Rfs*88 ENST00000332323 4/4 51 26 15 46 46 0 ZNF534,frameshift_variant,p.His357ArgfsTer88,ENST00000332323,NM_001143939.1;ZNF534,frameshift_variant,p.His344ArgfsTer88,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1; GG ENSG00000198633 ENST00000332323 Transcript frameshift_variant 1130-1131/2086 1069-1070/2025 357/674 H/RX cat/cGGat 1 1 ZNF534 HGNC HGNC:26337 protein_coding YES CCDS46165.1 ENSP00000327538 Q76KX8 UPI0000351984 NM_001143939.1 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF187,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.40.155.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 HIGH 1 insertion 1 PASS TCA . . 52438490 ZNF701 . GRCh38 chr19 52574167 52574167 + Splice_Region SNP G G C rs1461494940 7316-333 BS_YVRSCEC6 G G c.213+5G>C ENST00000540331 66 51 12 42 41 0 ZNF701,splice_region_variant,,ENST00000301093,;ZNF701,splice_region_variant,,ENST00000391785,NM_018260.2;ZNF701,splice_region_variant,,ENST00000540331,NM_001172655.1;ZNF701,splice_region_variant,,ENST00000593941,;ZNF701,splice_region_variant,,ENST00000596514,;AC022150.1,downstream_gene_variant,,ENST00000599222,;ZNF701,downstream_gene_variant,,ENST00000478039,; C ENSG00000167562 ENST00000540331 Transcript splice_region_variant,intron_variant rs1461494940 1 1 ZNF701 HGNC HGNC:25597 protein_coding YES CCDS54311.1 ENSP00000444339 Q9NV72 UPI0001C53D22 NM_001172655.1 3/4 LOW 1 SNV 1 PASS AGA . . 52574167 ZNF765 . GRCh38 chr19 53408947 53408947 + Missense_Mutation SNP T T A rs1414287714 7316-333 BS_YVRSCEC6 T T c.1392T>A p.Asn464Lys p.N464K ENST00000396408 4/4 78 59 11 37 35 1 ZNF765,missense_variant,p.Asn464Lys,ENST00000396408,NM_001040185.1,NM_001350495.1;ZNF765,intron_variant,,ENST00000594030,;ZNF765,downstream_gene_variant,,ENST00000505866,;ZNF765,intron_variant,,ENST00000504146,;ZNF765,intron_variant,,ENST00000504235,;ZNF765,intron_variant,,ENST00000507045,;RPL39P36,upstream_gene_variant,,ENST00000490784,; A ENSG00000196417 ENST00000396408 Transcript missense_variant 1509/4569 1392/1572 464/523 N/K aaT/aaA rs1414287714,COSM6336432 1 1 ZNF765 HGNC HGNC:25092 protein_coding YES CCDS46171.1 ENSP00000379689 Q7L2R6 UPI000040C508 NM_001040185.1,NM_001350495.1 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ATC . . 53408947 ZNF761 . GRCh38 chr19 53456166 53456166 + Missense_Mutation SNP G G T rs761024648 7316-333 BS_YVRSCEC6 G G c.1659G>T p.Lys553Asn p.K553N ENST00000432094 5/5 78 68 8 45 45 0 ZNF761,missense_variant,p.Lys553Asn,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.Lys553Asn,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; T ENSG00000160336 ENST00000432094 Transcript missense_variant 1966/4061 1659/2241 553/746 K/N aaG/aaT rs761024648,COSM6236692 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 tolerated(1) benign(0.001) 5/5 Gene3D:2.30.30.380,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,hmmpanther:PTHR24377:SF330,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS AGG . . 4.062e-06 8.956e-06 53456166 ZNF813 . GRCh38 chr19 53490659 53490659 + Missense_Mutation SNP A A C novel 7316-333 BS_YVRSCEC6 A A c.427A>C p.Ser143Arg p.S143R ENST00000396403 4/4 64 55 8 31 30 0 ZNF813,missense_variant,p.Ser143Arg,ENST00000396403,NM_001004301.3;ZNF813,missense_variant,p.Ser90Arg,ENST00000468450,;ZNF813,downstream_gene_variant,,ENST00000490956,; C ENSG00000198346 ENST00000396403 Transcript missense_variant 555/6151 427/1854 143/617 S/R Agc/Cgc 1 1 ZNF813 HGNC HGNC:33257 protein_coding YES CCDS46172.1 ENSP00000379684 Q6ZN06 UPI000040C511 NM_001004301.3 tolerated(0.09) benign(0.259) 4/4 hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644 MODERATE 1 SNV 3 PASS AAG . . 53490659 ZNF579 . GRCh38 chr19 55578965 55578965 + Missense_Mutation SNP C C A novel 7316-333 BS_YVRSCEC6 C C c.675G>T p.Gln225His p.Q225H ENST00000325421 2/2 82 69 13 34 33 0 ZNF579,missense_variant,p.Gln225His,ENST00000325421,NM_152600.2;ZNF579,downstream_gene_variant,,ENST00000592239,; A ENSG00000218891 ENST00000325421 Transcript missense_variant 704/2899 675/1689 225/562 Q/H caG/caT 1 -1 ZNF579 HGNC HGNC:26646 protein_coding YES CCDS12927.1 ENSP00000320188 Q8NAF0 UPI0000141657 NM_152600.2 tolerated(0.14) possibly_damaging(0.799) 2/2 hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF14,Gene3D:3.30.160.60 MODERATE 1 SNV 2 PASS CCT . . 55578965 ZNF543 . GRCh38 chr19 57328488 57328488 + Missense_Mutation SNP T T G novel 7316-333 BS_YVRSCEC6 T T c.1026T>G p.Ile342Met p.I342M ENST00000321545 4/4 59 50 7 45 43 0 ZNF543,missense_variant,p.Ile342Met,ENST00000321545,NM_213598.3; G ENSG00000178229 ENST00000321545 Transcript missense_variant 1371/3659 1026/1803 342/600 I/M atT/atG 1 1 ZNF543 HGNC HGNC:25281 protein_coding YES CCDS33130.1 ENSP00000322545 Q08ER8 UPI00001D8197 NM_213598.3 tolerated(0.25) benign(0.012) 4/4 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF710,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTG . . 57328488 SRC . GRCh38 chr20 37397773 37397773 + Nonsense_Mutation SNP A A T novel 7316-333 BS_YVRSCEC6 A A c.778A>T p.Lys260Ter p.K260* ENST00000373578 9/14 101 89 10 38 37 0 SRC,stop_gained,p.Lys260Ter,ENST00000373578,;SRC,stop_gained,p.Lys260Ter,ENST00000373567,;SRC,stop_gained,p.Lys266Ter,ENST00000373558,;SRC,stop_gained,p.Lys260Ter,ENST00000358208,;SRC,non_coding_transcript_exon_variant,,ENST00000477066,;SRC,downstream_gene_variant,,ENST00000472968,;SRC,upstream_gene_variant,,ENST00000477475,;SRC,downstream_gene_variant,,ENST00000489153,;SRC,upstream_gene_variant,,ENST00000493775,;SRC,upstream_gene_variant,,ENST00000467556,;,regulatory_region_variant,,ENSR00000136837,; T ENSG00000197122 ENST00000373578 Transcript stop_gained 1126/4630 778/1611 260/536 K/* Aag/Tag 1 1 SRC HGNC HGNC:11283 protein_coding YES CCDS13294.1 ENSP00000362680 P12931 UPI0000000CB3 9/14 cd05071,Gene3D:3.30.200.20,Superfamily_domains:SSF56112,Superfamily_domains:SSF55550,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF53 HIGH 1 SNV 5 1 PASS CAA . . 37397773 LAMA5 . GRCh38 chr20 62332568 62332568 + Frame_Shift_Del DEL G G - novel 7316-333 BS_YVRSCEC6 G G c.3432del p.Cys1145AlafsTer29 p.C1145Afs*29 ENST00000252999 27/80 68 50 14 51 50 0 LAMA5,frameshift_variant,p.Cys1145AlafsTer29,ENST00000252999,NM_005560.4;MIR4758,upstream_gene_variant,,ENST00000577688,;LAMA5,downstream_gene_variant,,ENST00000474128,; - ENSG00000130702 ENST00000252999 Transcript frameshift_variant 3499/11426 3432/11088 1144/3695 P/X ccC/cc 1 -1 LAMA5 HGNC HGNC:6485 protein_coding YES CCDS33502.1 ENSP00000252999 O15230 UPI0000161FDC NM_005560.4 27/80 hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574 HIGH 1 deletion 1 PASS CAGG . . 62332567 RPS21 . GRCh38 chr20 62387388 62387389 + Frame_Shift_Ins INS - - T novel 7316-333 BS_YVRSCEC6 - - c.50_50+1insT p.Ser18LeufsTer3 p.S18Lfs*3 ENST00000343986 79 60 13 32 32 0 RPS21,frameshift_variant,p.Ser18LeufsTer3,ENST00000370562,;RPS21,frameshift_variant,p.Ser18LeufsTer3,ENST00000450116,;RPS21,frameshift_variant,p.Ser18LeufsTer3,ENST00000370592,;RPS21,frameshift_variant,p.Ser18LeufsTer3,ENST00000343986,NM_001024.3;CABLES2,downstream_gene_variant,,ENST00000279101,NM_031215.2;CABLES2,downstream_gene_variant,,ENST00000453274,;AL121832.2,upstream_gene_variant,,ENST00000610979,;RPS21,splice_region_variant,,ENST00000492356,;,regulatory_region_variant,,ENSR00000139711,;,TF_binding_site_variant,,MA0062.2,; T ENSG00000171858 ENST00000343986 Transcript frameshift_variant,splice_region_variant 89-90/344 50-51/252 17/83 C/CX tgc/tgTc 1 1 RPS21 HGNC HGNC:10409 protein_coding YES CCDS13497.1 ENSP00000345957 P63220 Q6FGH5 UPI0000134E79 NM_001024.3 PDB-ENSP_mappings:4ug0.SV,PDB-ENSP_mappings:4v6x.AV,PDB-ENSP_mappings:5a2q.V,PDB-ENSP_mappings:5aj0.BV,PDB-ENSP_mappings:5flx.V,PDB-ENSP_mappings:5lks.SV,PDB-ENSP_mappings:5oa3.V,PDB-ENSP_mappings:5t2c.AC,PDB-ENSP_mappings:5vyc.V1,PDB-ENSP_mappings:5vyc.V2,PDB-ENSP_mappings:5vyc.V3,PDB-ENSP_mappings:5vyc.V4,PDB-ENSP_mappings:5vyc.V5,PDB-ENSP_mappings:5vyc.V6,hmmpanther:PTHR10442:SF0,hmmpanther:PTHR10442,PROSITE_patterns:PS00996,PIRSF_domain:PIRSF002148,Pfam_domain:PF01249 HIGH 1 insertion 1 PASS TGG . . 62387388 RPS21 . GRCh38 chr20 62387389 62387389 + Splice_Site SNP G G T novel 7316-333 BS_YVRSCEC6 G G c.50+1G>T p.X17_splice ENST00000343986 79 65 13 32 32 0 RPS21,splice_donor_variant,,ENST00000343986,NM_001024.3;RPS21,splice_donor_variant,,ENST00000370562,;RPS21,splice_donor_variant,,ENST00000370592,;RPS21,splice_donor_variant,,ENST00000450116,;CABLES2,downstream_gene_variant,,ENST00000279101,NM_031215.2;CABLES2,downstream_gene_variant,,ENST00000453274,;AL121832.2,upstream_gene_variant,,ENST00000610979,;RPS21,splice_donor_variant,,ENST00000492356,;,regulatory_region_variant,,ENSR00000139711,;,TF_binding_site_variant,,MA0062.2,; T ENSG00000171858 ENST00000343986 Transcript splice_donor_variant 1 1 RPS21 HGNC HGNC:10409 protein_coding YES CCDS13497.1 ENSP00000345957 P63220 Q6FGH5 UPI0000134E79 NM_001024.3 2/5 HIGH 1 SNV 1 PASS GGT . . 62387389 CCT8 . GRCh38 chr21 29060566 29060566 + Missense_Mutation SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.1544C>T p.Ala515Val p.A515V ENST00000286788 14/15 96 73 22 50 50 0 CCT8,missense_variant,p.Ala515Val,ENST00000286788,NM_001282908.1,NM_006585.3;CCT8,missense_variant,p.Ala442Val,ENST00000540844,NM_001282909.1;CCT8,missense_variant,p.Ala496Val,ENST00000626972,NM_001282907.1;CCT8,missense_variant,p.Ala74Val,ENST00000432178,;CCT8,downstream_gene_variant,,ENST00000431234,;AF129075.1,upstream_gene_variant,,ENST00000457162,;CCT8,non_coding_transcript_exon_variant,,ENST00000470450,;CCT8,downstream_gene_variant,,ENST00000480359,;CCT8,downstream_gene_variant,,ENST00000481059,;CCT8,non_coding_transcript_exon_variant,,ENST00000496121,;CCT8,downstream_gene_variant,,ENST00000475205,;CCT8,downstream_gene_variant,,ENST00000484403,; A ENSG00000156261 ENST00000286788 Transcript missense_variant 1751/2005 1544/1647 515/548 A/V gCa/gTa 1 -1 CCT8 HGNC HGNC:1623 protein_coding YES CCDS33528.1 ENSP00000286788 P50990 UPI0000136B0D NM_001282908.1,NM_006585.3 tolerated(0.17) probably_damaging(0.999) 14/15 Gene3D:1.10.560.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF78,Superfamily_domains:SSF48592,TIGRFAM_domain:TIGR02346,cd03341 MODERATE 1 SNV 1 PASS TGC . . 29060566 SYNJ1 . GRCh38 chr21 32657117 32657117 + Missense_Mutation SNP T T C novel 7316-333 BS_YVRSCEC6 T T c.2582A>G p.Glu861Gly p.E861G ENST00000433931 20/32 89 65 24 41 41 0 SYNJ1,missense_variant,p.Glu861Gly,ENST00000382499,NM_203446.2;SYNJ1,missense_variant,p.Glu822Gly,ENST00000357345,NM_001160302.1;SYNJ1,missense_variant,p.Glu817Gly,ENST00000382491,;SYNJ1,missense_variant,p.Glu817Gly,ENST00000630077,NM_001160306.1;SYNJ1,missense_variant,p.Glu861Gly,ENST00000433931,NM_003895.3;SYNJ1,non_coding_transcript_exon_variant,,ENST00000464778,;SYNJ1,upstream_gene_variant,,ENST00000467445,; C ENSG00000159082 ENST00000433931 Transcript missense_variant 2590/4852 2582/4839 861/1612 E/G gAa/gGa 1 -1 SYNJ1 HGNC HGNC:11503 protein_coding YES CCDS33539.2 ENSP00000409667 J3KQV8 UPI0001A47572 NM_003895.3 tolerated(0.35) possibly_damaging(0.783) 20/32 Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF158,SMART_domains:SM00128,cd09098 MODERATE 1 SNV 1 1 PASS TTC . . 32657117 RIPK4 . GRCh38 chr21 41756641 41756641 + Nonsense_Mutation SNP G G A rs765708371 7316-333 BS_YVRSCEC6 G G c.358C>T p.Arg120Ter p.R120* ENST00000332512 2/8 120 52 65 46 46 0 RIPK4,stop_gained,p.Arg120Ter,ENST00000352483,;RIPK4,stop_gained,p.Arg120Ter,ENST00000332512,NM_020639.2; A ENSG00000183421 ENST00000332512 Transcript stop_gained 423/3889 358/2355 120/784 R/* Cga/Tga rs765708371,COSM6309547,COSM6309546,COSM4490157,COSM4490156 1 -1 RIPK4 HGNC HGNC:496 protein_coding YES CCDS13675.1 ENSP00000332454 P57078 UPI000002A3C9 NM_020639.2 2/8 cd14025,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000615,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24198:SF65,hmmpanther:PTHR24198 0,1,1,1,1 HIGH 1 SNV 1 0,1,1,1,1 1 PASS CGG . . 8.124e-06 2.978e-05 8.955e-06 41756641 SLC37A1 . GRCh38 chr21 42567005 42567005 + Missense_Mutation SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.1291G>A p.Ala431Thr p.A431T ENST00000352133 16/20 95 80 12 39 39 0 SLC37A1,missense_variant,p.Ala431Thr,ENST00000352133,NM_001320537.1;SLC37A1,missense_variant,p.Ala431Thr,ENST00000398341,NM_018964.3;SLC37A1,non_coding_transcript_exon_variant,,ENST00000496416,; A ENSG00000160190 ENST00000352133 Transcript missense_variant 2273/3664 1291/1602 431/533 A/T Gcc/Acc 1 1 SLC37A1 HGNC HGNC:11024 protein_coding YES CCDS13689.1 ENSP00000344648 P57057 UPI00001AEB81 NM_001320537.1 tolerated(0.05) possibly_damaging(0.67) 16/20 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,cd06174,hmmpanther:PTHR43184:SF11,hmmpanther:PTHR43184,PIRSF_domain:PIRSF002808,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473 MODERATE 1 SNV 1 PASS AGC . . 42567005 DGCR8 . GRCh38 chr22 20086651 20086651 + Missense_Mutation SNP G G A novel 7316-333 BS_YVRSCEC6 G G c.688G>A p.Val230Met p.V230M ENST00000351989 2/14 74 64 9 29 29 0 DGCR8,missense_variant,p.Val230Met,ENST00000351989,NM_022720.6;DGCR8,missense_variant,p.Val230Met,ENST00000383024,NM_001190326.1;DGCR8,missense_variant,p.Val230Met,ENST00000407755,;DGCR8,downstream_gene_variant,,ENST00000457069,;MIR1306,downstream_gene_variant,,ENST00000408439,;MIR3618,downstream_gene_variant,,ENST00000580330,;DGCR8,non_coding_transcript_exon_variant,,ENST00000495826,;DGCR8,upstream_gene_variant,,ENST00000498171,; A ENSG00000128191 ENST00000351989 Transcript missense_variant 1117/4514 688/2322 230/773 V/M Gtg/Atg 1 1 DGCR8 HGNC HGNC:2847 protein_coding YES CCDS13773.1 ENSP00000263209 Q8WYQ5 UPI0000129225 NM_022720.6 tolerated(0.12) benign(0.092) 2/14 hmmpanther:PTHR13482 MODERATE 1 SNV 1 1 PASS AGT . . 20086651 CABIN1 . GRCh38 chr22 24098025 24098025 + Missense_Mutation SNP G G C 7316-333 BS_YVRSCEC6 G G c.3950G>C p.Cys1317Ser p.C1317S ENST00000398319 26/37 76 66 9 39 38 0 CABIN1,missense_variant,p.Cys1317Ser,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Cys1317Ser,ENST00000263119,NM_012295.3;CABIN1,missense_variant,p.Cys1267Ser,ENST00000617531,NM_001201429.1;CABIN1,missense_variant,p.Cys1267Ser,ENST00000405822,;AC253536.3,upstream_gene_variant,,ENST00000444093,;CABIN1,upstream_gene_variant,,ENST00000467937,; C ENSG00000099991 ENST00000398319 Transcript missense_variant 4335/7480 3950/6663 1317/2220 C/S tGc/tCc COSM5429608 1 1 CABIN1 HGNC HGNC:24187 protein_coding YES CCDS13823.1 ENSP00000381364 Q9Y6J0 A0A024R1E5 UPI0000126D6C NM_001199281.1 tolerated(0.47) possibly_damaging(0.572) 26/37 mobidb-lite,hmmpanther:PTHR15502,Gene3D:1.25.40.10 1 MODERATE 1 SNV 1 1 PASS TGC . . 24098025 BRD1 . GRCh38 chr22 49823978 49823978 + Missense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.340G>A p.Ala114Thr p.A114T ENST00000457780 1/12 68 60 8 27 27 0 BRD1,missense_variant,p.Ala114Thr,ENST00000457780,;BRD1,missense_variant,p.Ala114Thr,ENST00000216267,;BRD1,missense_variant,p.Ala114Thr,ENST00000404760,NM_001304808.1,NM_001349941.1;BRD1,missense_variant,p.Ala114Thr,ENST00000404034,NM_001304809.1;BRD1,upstream_gene_variant,,ENST00000459821,;BRD1,upstream_gene_variant,,ENST00000494833,;BRD1,upstream_gene_variant,,ENST00000438393,; T ENSG00000100425 ENST00000457780 Transcript missense_variant 827/4997 340/3570 114/1189 A/T Gcc/Acc 1 -1 BRD1 HGNC HGNC:1102 protein_coding YES CCDS77686.1 ENSP00000410042 O95696 A0A024R4V5 UPI0000367106 tolerated(0.59) benign(0.009) 1/12 Pfam_domain:PF10513,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF17,mobidb-lite MODERATE 1 SNV 5 PASS GCC . . 49823978 TRO . GRCh38 chrX 54929717 54929717 + Missense_Mutation SNP A A G rs1355573898 7316-333 BS_YVRSCEC6 A A c.2993A>G p.Asp998Gly p.D998G ENST00000173898 12/13 333 278 28 50 46 0 TRO,missense_variant,p.Asp998Gly,ENST00000173898,NM_001039705.2;TRO,missense_variant,p.Asp529Gly,ENST00000420798,NM_001271183.1;TRO,missense_variant,p.Asp601Gly,ENST00000375041,NM_001271184.1;TRO,intron_variant,,ENST00000319167,NM_016157.3;TRO,intron_variant,,ENST00000375022,NM_177556.2;TRO,intron_variant,,ENST00000399736,NM_177557.2;TRO,intron_variant,,ENST00000622017,;PFKFB1,downstream_gene_variant,,ENST00000374992,;PFKFB1,downstream_gene_variant,,ENST00000375006,NM_001271804.1,NM_002625.3;TRO,downstream_gene_variant,,ENST00000431115,;PFKFB1,downstream_gene_variant,,ENST00000545676,NM_001271805.1;PFKFB1,downstream_gene_variant,,ENST00000614686,;RF00614,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,; G ENSG00000067445 ENST00000173898 Transcript missense_variant 3105/4647 2993/4296 998/1431 D/G gAc/gGc rs1355573898 1 1 TRO HGNC HGNC:12326 protein_coding YES CCDS43959.1 ENSP00000173898 Q12816 UPI000021208F NM_001039705.2 tolerated(0.6) benign(0.001) 12/13 hmmpanther:PTHR11736:SF83,hmmpanther:PTHR11736,Superfamily_domains:SSF141571 MODERATE 1 SNV 1 PASS GAC . . 54929717 TRO . GRCh38 chrX 54930953 54930953 + Missense_Mutation SNP C C T rs752478190 7316-333 BS_YVRSCEC6 C C c.4229C>T p.Pro1410Leu p.P1410L ENST00000173898 12/13 300 279 13 46 46 0 TRO,missense_variant,p.Pro1410Leu,ENST00000173898,NM_001039705.2;TRO,missense_variant,p.Pro941Leu,ENST00000420798,NM_001271183.1;TRO,missense_variant,p.Pro1013Leu,ENST00000375041,NM_001271184.1;TRO,missense_variant,p.Pro336Leu,ENST00000622017,;TRO,intron_variant,,ENST00000319167,NM_016157.3;TRO,intron_variant,,ENST00000375022,NM_177556.2;TRO,intron_variant,,ENST00000399736,NM_177557.2;PFKFB1,downstream_gene_variant,,ENST00000374992,;PFKFB1,downstream_gene_variant,,ENST00000375006,NM_001271804.1,NM_002625.3;PFKFB1,downstream_gene_variant,,ENST00000545676,NM_001271805.1;PFKFB1,downstream_gene_variant,,ENST00000614686,;RF00614,downstream_gene_variant,,ENST00000408823,;TRO,downstream_gene_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,3_prime_UTR_variant,,ENST00000445561,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,downstream_gene_variant,,ENST00000469211,; T ENSG00000067445 ENST00000173898 Transcript missense_variant 4341/4647 4229/4296 1410/1431 P/L cCg/cTg rs752478190 1 1 TRO HGNC HGNC:12326 protein_coding YES CCDS43959.1 ENSP00000173898 Q12816 UPI000021208F NM_001039705.2 tolerated_low_confidence(1) probably_damaging(0.988) 12/13 Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF83,hmmpanther:PTHR11736 MODERATE 1 SNV 1 PASS CCG . . 6.973e-05 0.0007667 0.0005049 54930953 ZMAT1 . GRCh38 chrX 101884267 101884267 + Missense_Mutation SNP C C T rs1339279148 7316-333 BS_YVRSCEC6 C C c.1160G>A p.Arg387Lys p.R387K ENST00000372782 7/7 37 31 6 47 46 0 ZMAT1,missense_variant,p.Arg387Lys,ENST00000372782,NM_001011657.3;ZMAT1,missense_variant,p.Arg387Lys,ENST00000540921,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000494068,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000458570,NM_001282401.1;ZMAT1,non_coding_transcript_exon_variant,,ENST00000488347,NM_001282400.1;ZMAT1,downstream_gene_variant,,ENST00000490757,; T ENSG00000166432 ENST00000372782 Transcript missense_variant 1208/3185 1160/1917 387/638 R/K aGg/aAg rs1339279148 1 -1 ZMAT1 HGNC HGNC:29377 protein_coding YES CCDS35348.1 ENSP00000361868 Q5H9K5 UPI0001DD37FB NM_001011657.3 tolerated(0.66) benign(0.254) 7/7 hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF14 MODERATE 1 SNV 1 PASS CCT . . 101884267 RBMXL3 . GRCh38 chrX 115191798 115191798 + Missense_Mutation SNP C C T rs1166626246 7316-333 BS_YVRSCEC6 C C c.2357C>T p.Ser786Leu p.S786L ENST00000424776 1/1 52 40 9 55 53 0 RBMXL3,missense_variant,p.Ser786Leu,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343012,; T ENSG00000175718 ENST00000424776 Transcript missense_variant 2372/3442 2357/3204 786/1067 S/L tCg/tTg rs1166626246 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.08) possibly_damaging(0.602) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 MODERATE SNV PASS TCG . . 2.712e-05 0.000164 2.361e-05 7.043e-05 115191798 RBMXL3 . GRCh38 chrX 115192020 115192020 + Missense_Mutation SNP A A G 7316-333 BS_YVRSCEC6 A A c.2579A>G p.His860Arg p.H860R ENST00000424776 1/1 52 39 10 47 46 0 RBMXL3,missense_variant,p.His860Arg,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1; G ENSG00000175718 ENST00000424776 Transcript missense_variant 2594/3442 2579/3204 860/1067 H/R cAc/cGc COSM6209403 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.76) benign(0.01) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 1 MODERATE SNV 1 PASS CAC . . 115192020 MT-ND2 . GRCh38 chrM 4485 4485 + Nonsense_Mutation SNP C C T novel 7316-333 BS_YVRSCEC6 C C c.16C>T p.Gln6Ter p.Q6* ENST00000361453 1/1 12475 7736 4619 1583 1563 0 MT-ND2,stop_gained,p.Gln6Ter,ENST00000361453,;MT-ND1,downstream_gene_variant,,ENST00000361390,;MT-CO1,upstream_gene_variant,,ENST00000361624,;MT-CO2,upstream_gene_variant,,ENST00000361739,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-CO3,upstream_gene_variant,,ENST00000362079,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-TF,downstream_gene_variant,,ENST00000387314,;MT-TV,downstream_gene_variant,,ENST00000387342,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,downstream_gene_variant,,ENST00000387365,;MT-TQ,upstream_gene_variant,,ENST00000387372,;MT-TM,downstream_gene_variant,,ENST00000387377,;MT-TW,upstream_gene_variant,,ENST00000387382,;MT-TA,downstream_gene_variant,,ENST00000387392,;MT-TN,downstream_gene_variant,,ENST00000387400,;MT-TC,downstream_gene_variant,,ENST00000387405,;MT-TY,downstream_gene_variant,,ENST00000387409,;MT-TS1,downstream_gene_variant,,ENST00000387416,;MT-TD,upstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-RNR1,downstream_gene_variant,,ENST00000389680,; T ENSG00000198763 ENST00000361453 Transcript stop_gained 16/1042 16/1042 6/347 Q/* Caa/Taa 1 1 MT-ND2 HGNC HGNC:7456 protein_coding YES ENSP00000355046 P03891 Q7GXY9 UPI0000000AA2 1/1 PDB-ENSP_mappings:5xtc.i,PDB-ENSP_mappings:5xtd.i HIGH 1 SNV 1 PASS CCA . . 4485 PRAMEF10 . GRCh38 chr1 12895156 12895156 + Missense_Mutation SNP T T A rs3121398 7316-883 BS_QYGZMWPC T T c.296A>T p.Lys99Ile p.K99I ENST00000235347 3/4 50 38 12 16 16 0 PRAMEF10,missense_variant,p.Lys99Ile,ENST00000235347,NM_001039361.4; A ENSG00000187545 ENST00000235347 Transcript missense_variant 376/1525 296/1425 99/474 K/I aAa/aTa rs3121398 1 -1 PRAMEF10 HGNC HGNC:27997 protein_coding YES CCDS41255.1 ENSP00000235347 O60809 UPI000442CF00 NM_001039361.4 deleterious(0) probably_damaging(0.983) 3/4 PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF28 MODERATE 1 SNV 1 PASS TTT . . 1.936e-05 3.754e-05 2.128e-05 0.0002186 12895156 CCDC30 . GRCh38 chr1 42536529 42536530 + Frame_Shift_Del DEL AG AG - rs372826618 7316-883 BS_QYGZMWPC AG AG c.60_61del p.Lys21AlafsTer7 p.K21Afs*7 ENST00000342022 2/16 61 48 5 37 34 0 CCDC30,frameshift_variant,p.Lys177AlafsTer7,ENST00000340612,;CCDC30,frameshift_variant,p.Lys21AlafsTer7,ENST00000342022,NM_001080850.2;CCDC30,frameshift_variant,p.Lys21AlafsTer7,ENST00000428554,;CCDC30,non_coding_transcript_exon_variant,,ENST00000471390,;CCDC30,5_prime_UTR_variant,,ENST00000477155,NM_001355224.1;CCDC30,3_prime_UTR_variant,,ENST00000509712,;CCDC30,non_coding_transcript_exon_variant,,ENST00000495044,;CCDC30,intron_variant,,ENST00000507855,;CCDC30,upstream_gene_variant,,ENST00000514642,; - ENSG00000186409 ENST00000342022 Transcript frameshift_variant 155-156/3098 45-46/2352 15-16/783 KE/KX aaAGag/aaag rs372826618,COSM4765196,COSM391243 1 1 CCDC30 HGNC HGNC:26103 protein_coding YES CCDS30690.1 ENSP00000339280 Q5VVM6 UPI0000458A0B NM_001080850.2 2/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34479 0,1,1 HIGH 1 deletion 5 15 0,1,1 PASS AAAGA . . 0.04966 0.04516 0.08702 0.0634 0.07094 0.01823 0.03814 0.0696 0.07778 42536528 TCHH . GRCh38 chr1 152108280 152108280 + Missense_Mutation SNP A A C rs1309635950 7316-883 BS_QYGZMWPC A A c.4937T>G p.Leu1646Arg p.L1646R ENST00000614923 3/3 57 43 9 18 17 0 TCHH,missense_variant,p.Leu1646Arg,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Leu1646Arg,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; C ENSG00000159450 ENST00000614923 Transcript missense_variant 5032/6995 4937/5832 1646/1943 L/R cTc/cGc rs1309635950,COSM4221224 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.73) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS GAG . . 152108280 TCHH . GRCh38 chr1 152109990 152109990 + Missense_Mutation SNP A A C rs1187604660 7316-883 BS_QYGZMWPC A A c.3227T>G p.Leu1076Arg p.L1076R ENST00000614923 3/3 44 34 9 23 20 0 TCHH,missense_variant,p.Leu1076Arg,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Leu1076Arg,ENST00000368804,; C ENSG00000159450 ENST00000614923 Transcript missense_variant 3322/6995 3227/5832 1076/1943 L/R cTg/cGg rs1187604660,COSM1498500 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.15) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS CAG . . 152109990 FLG2 . GRCh38 chr1 152352864 152352864 + Missense_Mutation SNP C C G 7316-883 BS_QYGZMWPC C C c.4922G>C p.Arg1641Thr p.R1641T ENST00000388718 3/3 56 51 5 29 27 0 FLG2,missense_variant,p.Arg1641Thr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 4995/9124 4922/7176 1641/2391 R/T aGa/aCa COSM5200092 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.6) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS TCT . . 152352864 TRAF5 . GRCh38 chr1 211369522 211369522 + Missense_Mutation SNP A A G novel 7316-883 BS_QYGZMWPC A A c.860A>G p.Lys287Arg p.K287R ENST00000261464 9/11 58 35 23 28 28 0 TRAF5,missense_variant,p.Lys287Arg,ENST00000261464,NM_001033910.2,NM_001319207.1;TRAF5,missense_variant,p.Lys287Arg,ENST00000336184,NM_004619.3;TRAF5,missense_variant,p.Lys287Arg,ENST00000367004,NM_145759.2;TRAF5,non_coding_transcript_exon_variant,,ENST00000473385,;TRAF5,downstream_gene_variant,,ENST00000462410,; G ENSG00000082512 ENST00000261464 Transcript missense_variant 914/3972 860/1674 287/557 K/R aAa/aGa 1 1 TRAF5 HGNC HGNC:12035 protein_coding YES CCDS1497.1 ENSP00000261464 O00463 UPI0000070955 NM_001033910.2,NM_001319207.1 tolerated(0.15) benign(0.048) 9/11 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10131:SF83,hmmpanther:PTHR10131,PIRSF_domain:PIRSF015614,Gene3D:1.20.120.570 MODERATE 1 SNV 1 PASS AAA . . 211369522 CGREF1 . GRCh38 chr2 27101554 27101554 + Missense_Mutation SNP T T C rs74360681 7316-883 BS_QYGZMWPC T T c.677A>G p.Glu226Gly p.E226G ENST00000402394 6/6 72 59 10 27 27 0 CGREF1,missense_variant,p.Glu226Gly,ENST00000402394,NM_006569.5;CGREF1,missense_variant,p.Glu226Gly,ENST00000312734,;CGREF1,missense_variant,p.Glu348Gly,ENST00000404694,;CGREF1,missense_variant,p.Glu226Gly,ENST00000405600,NM_001166239.1;CGREF1,missense_variant,p.Glu226Gly,ENST00000260595,;CGREF1,intron_variant,,ENST00000402550,NM_001166240.1;CGREF1,intron_variant,,ENST00000640154,;KHK,downstream_gene_variant,,ENST00000260598,NM_006488.2;KHK,downstream_gene_variant,,ENST00000260599,NM_000221.2;KHK,downstream_gene_variant,,ENST00000429697,;KHK,downstream_gene_variant,,ENST00000490823,;CGREF1,intron_variant,,ENST00000440612,NM_001301324.1;KHK,downstream_gene_variant,,ENST00000464371,;CGREF1,downstream_gene_variant,,ENST00000467539,;KHK,downstream_gene_variant,,ENST00000469936,; C ENSG00000138028 ENST00000402394 Transcript missense_variant 946/1906 677/957 226/318 E/G gAg/gGg rs74360681,COSM1130812 1 -1 CGREF1 HGNC HGNC:16962 protein_coding YES CCDS33162.2 ENSP00000385452 Q99674 UPI000013D0EB NM_006569.5 tolerated(0.48) benign(0) 6/6 mobidb-lite,hmmpanther:PTHR23104,hmmpanther:PTHR23104:SF11 0,1 MODERATE SNV 2 0,1 PASS CTC . . 27101554 MUC4 . GRCh38 chr3 195786274 195786274 + Missense_Mutation SNP A A G rs879139073 7316-883 BS_QYGZMWPC A A c.5306T>C p.Val1769Ala p.V1769A ENST00000463781 2/25 74 61 7 37 35 0 MUC4,missense_variant,p.Val1769Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Val1769Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Val1769Ala,ENST00000478156,;MUC4,missense_variant,p.Val1769Ala,ENST00000466475,;MUC4,missense_variant,p.Val1769Ala,ENST00000477756,;MUC4,missense_variant,p.Val1769Ala,ENST00000477086,;MUC4,missense_variant,p.Val1769Ala,ENST00000480843,;MUC4,missense_variant,p.Val1769Ala,ENST00000462323,;MUC4,missense_variant,p.Val1769Ala,ENST00000470451,;MUC4,missense_variant,p.Val1769Ala,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 5766/17110 5306/16239 1769/5412 V/A gTa/gCa rs879139073,COSM2946258 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.13) benign(0.159) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TAC . . 195786274 MUC4 . GRCh38 chr3 195786764 195786764 + Missense_Mutation SNP G G T rs199723078 7316-883 BS_QYGZMWPC G G c.4816C>A p.Pro1606Thr p.P1606T ENST00000463781 2/25 48 37 7 29 26 0 MUC4,missense_variant,p.Pro1606Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro1606Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro1606Thr,ENST00000478156,;MUC4,missense_variant,p.Pro1606Thr,ENST00000466475,;MUC4,missense_variant,p.Pro1606Thr,ENST00000477756,;MUC4,missense_variant,p.Pro1606Thr,ENST00000477086,;MUC4,missense_variant,p.Pro1606Thr,ENST00000480843,;MUC4,missense_variant,p.Pro1606Thr,ENST00000462323,;MUC4,missense_variant,p.Pro1606Thr,ENST00000470451,;MUC4,missense_variant,p.Pro1606Thr,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 5276/17110 4816/16239 1606/5412 P/T Cct/Act rs199723078,COSM1042935 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.09) benign(0.031) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGG . . 6.589e-06 1.712e-05 195786764 MUC7 . GRCh38 chr4 70481636 70481636 + Missense_Mutation SNP C C T rs41396247 7316-883 BS_QYGZMWPC C C c.892C>T p.Pro298Ser p.P298S ENST00000413702 4/4 57 51 5 39 39 0 MUC7,missense_variant,p.Pro298Ser,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Pro298Ser,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Pro298Ser,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,; T ENSG00000171195 ENST00000413702 Transcript missense_variant 1180/2540 892/1134 298/377 P/S Cca/Tca rs41396247,COSM5797968 1 1 MUC7 HGNC HGNC:7518 protein_coding YES CCDS3541.1 ENSP00000407422 Q8TAX7 UPI000013E9DD NM_001145006.1 tolerated(0.95) benign(0.007) 4/4 hmmpanther:PTHR41683,mobidb-lite,Low_complexity_(Seg):seg 0.0146 0.0545 0.0014 0.03268 0,1 MODERATE 1 SNV 4 0,1 1 PASS CCC . . 0.0004668 0.007841 8.961e-05 70481636 MYO10 . GRCh38 chr5 16701048 16701048 + Missense_Mutation SNP T T C novel 7316-883 BS_QYGZMWPC T T c.3347A>G p.Gln1116Arg p.Q1116R ENST00000513610 25/41 59 52 7 39 38 0 MYO10,missense_variant,p.Gln1127Arg,ENST00000274203,;MYO10,missense_variant,p.Gln1116Arg,ENST00000513610,NM_012334.2;MYO10,missense_variant,p.Gln455Arg,ENST00000515803,;MYO10,missense_variant,p.Gln455Arg,ENST00000505695,;MYO10,downstream_gene_variant,,ENST00000513882,;MYO10,downstream_gene_variant,,ENST00000506343,;MYO10,downstream_gene_variant,,ENST00000510401,;MYO10,downstream_gene_variant,,ENST00000512061,; C ENSG00000145555 ENST00000513610 Transcript missense_variant 3802/8038 3347/6177 1116/2058 Q/R cAg/cGg 1 -1 MYO10 HGNC HGNC:7593 protein_coding YES CCDS54834.1 ENSP00000421280 Q9HD67 UPI0001597062 NM_012334.2 tolerated_low_confidence(0.34) benign(0.045) 25/41 hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF276 MODERATE 1 SNV 1 PASS CTG . . 16701048 MUC21 . GRCh38 chr6 30987266 30987266 + Missense_Mutation SNP G G A rs9262385 7316-883 BS_QYGZMWPC G G c.1091G>A p.Gly364Glu p.G364E ENST00000376296 2/3 52 37 10 40 39 0 MUC21,missense_variant,p.Gly364Glu,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,; A ENSG00000204544 ENST00000376296 Transcript missense_variant 1332/3651 1091/1701 364/566 G/E gGg/gAg rs9262385,COSM1286362 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 tolerated(0.77) benign(0.006) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR39408,Pfam_domain:PF05647 0.0212 0.0197 0.0576 0.0079 0.0179 0.0143 0.0057 0.005365 0,1 MODERATE 1 SNV 1 0,1 PASS GGG . . 0.004048 0.009245 0.006658 0.002492 0.008664 0.001144 0.003419 0.004569 0.002764 30987266 SPDYE1 . GRCh38 chr7 44007335 44007335 + Missense_Mutation SNP G G A rs200388629 7316-883 BS_QYGZMWPC G G c.700G>A p.Gly234Arg p.G234R ENST00000258704 5/7 64 54 9 35 35 0 SPDYE1,missense_variant,p.Gly234Arg,ENST00000258704,NM_175064.2;AC004951.1,splice_region_variant,,ENST00000447643,;POLR2J4,intron_variant,,ENST00000422304,;POLR2J4,intron_variant,,ENST00000427076,;AC004951.4,intron_variant,,ENST00000454572,; A ENSG00000136206 ENST00000258704 Transcript missense_variant 837/2649 700/1011 234/336 G/R Ggg/Agg rs200388629,COSM328576 1 1 SPDYE1 HGNC HGNC:16408 protein_coding YES CCDS5475.1 ENSP00000258704 Q8NFV5 UPI000013CFF7 NM_175064.2 deleterious(0.05) benign(0.098) 5/7 Pfam_domain:PF11357,hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF15 0,1 MODERATE 1 SNV 1 0,1 PASS TGG . . 0.01525 0.006014 0.06102 0.03249 0.005968 0.002914 0.006801 0.01783 0.02354 44007335 MUC17 . GRCh38 chr7 101038836 101038836 + Missense_Mutation SNP G G A rs555953599 7316-883 BS_QYGZMWPC G G c.7420G>A p.Gly2474Ser p.G2474S ENST00000306151 3/13 59 47 11 32 31 0 MUC17,missense_variant,p.Gly2474Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2474Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 7484/14247 7420/13482 2474/4493 G/S Ggc/Agc rs555953599,COSM5764190 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.024) 3/13 hmmpanther:PTHR37999,mobidb-lite 0.0006 0.0031 0,1 MODERATE 1 SNV 1 0,1 PASS TGG . . 3.181e-05 0.0001078 0.0001483 101038836 MUC17 . GRCh38 chr7 101038843 101038843 + Missense_Mutation SNP T T A rs1322563822 7316-883 BS_QYGZMWPC T T c.7427T>A p.Leu2476His p.L2476H ENST00000306151 3/13 63 55 7 30 29 0 MUC17,missense_variant,p.Leu2476His,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Leu2476His,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 7491/14247 7427/13482 2476/4493 L/H cTt/cAt rs1322563822,COSM5871364 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.01) possibly_damaging(0.612) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CTT . . 8.128e-06 5.956e-05 101038843 PRSS1 . GRCh38 chr7 142750600 142750600 + Missense_Mutation SNP A A C rs111033566 7316-883 BS_QYGZMWPC A A c.86A>C p.Asn29Thr p.N29T ENST00000311737 2/5 89 79 10 39 39 0 PRSS1,missense_variant,p.Asn29Thr,ENST00000486171,;PRSS1,missense_variant,p.Asn29Thr,ENST00000311737,NM_002769.4;PRSS1,missense_variant,p.Asn29Thr,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,intron_variant,,ENST00000485223,;PRSS1,upstream_gene_variant,,ENST00000463701,; C ENSG00000204983 ENST00000311737 Transcript missense_variant 92/800 86/744 29/247 N/T aAc/aCc rs111033566,CM021670,CM971250,COSM4161874 1 1 PRSS1 HGNC HGNC:9475 protein_coding YES CCDS5872.1 ENSP00000308720 P07477 UPI0000001309 NM_002769.4 tolerated(0.79) benign(0) 2/5 PDB-ENSP_mappings:1fxy.A,PDB-ENSP_mappings:1trn.A,PDB-ENSP_mappings:1trn.B,Gene3D:2.40.10.10,PDB-ENSP_mappings:2ra3.A,PDB-ENSP_mappings:2ra3.B,PDB-ENSP_mappings:4wwy.A,PDB-ENSP_mappings:4wwy.B,PDB-ENSP_mappings:4wxv.A,PDB-ENSP_mappings:4wxv.B,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 pathogenic 0,0,0,1 10835640,12011155,10204851,22379635,6023921,9322498,10872414,10982192,11842279,11950817,12853682,15028953,16632094,21415673,22539344,24002981,185115,9633818,11719509,11788572 MODERATE 1 SNV 1 1,1,1,1 1 PASS AAC . . 142750600 VAV2 . GRCh38 chr9 133783545 133783545 + Frame_Shift_Del DEL C C - novel 7316-883 BS_QYGZMWPC C C c.1681del p.Ala561HisfsTer8 p.A561Hfs*8 ENST00000371850 19/30 51 30 19 42 40 0 VAV2,frameshift_variant,p.Ala551HisfsTer8,ENST00000371851,;VAV2,frameshift_variant,p.Ala561HisfsTer8,ENST00000371850,NM_001134398.1;VAV2,frameshift_variant,p.Ala551HisfsTer8,ENST00000406606,NM_003371.3; - ENSG00000160293 ENST00000371850 Transcript frameshift_variant 1713/4837 1681/2637 561/878 A/X Gca/ca 1 -1 VAV2 HGNC HGNC:12658 protein_coding YES CCDS48053.1 ENSP00000360916 P52735 UPI000013E06E NM_001134398.1 19/30 cd00029,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,PROSITE_profiles:PS50081,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF95,PROSITE_patterns:PS00479 HIGH 1 deletion 1 PASS TGCC . . 133783544 CDHR5 . GRCh38 chr11 618929 618929 + Missense_Mutation SNP T T C rs147960355 7316-883 BS_QYGZMWPC T T c.1630A>G p.Lys544Glu p.K544E ENST00000358353 14/16 42 32 8 30 28 0 CDHR5,missense_variant,p.Lys544Glu,ENST00000358353,;CDHR5,missense_variant,p.Lys544Glu,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; C ENSG00000099834 ENST00000358353 Transcript missense_variant 1953/3635 1630/2538 544/845 K/E Aag/Gag rs147960355 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(0.71) benign(0.003) 14/16 mobidb-lite,hmmpanther:PTHR45160 0.0002 0.001 MODERATE SNV 5 PASS TTT . . 4.075e-06 5.817e-05 618929 MUC5AC . GRCh38 chr11 1191365 1191365 + Missense_Mutation SNP G G A rs1409379309 7316-883 BS_QYGZMWPC G G c.13220G>A p.Ser4407Asn p.S4407N ENST00000621226 31/49 34 27 5 19 18 0 MUC5AC,missense_variant,p.Ser4407Asn,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; A ENSG00000215182 ENST00000621226 Transcript missense_variant 13267/17448 13220/16965 4407/5654 S/N aGt/aAt rs1409379309 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.22) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AGT . . 1191365 OR4K2 . GRCh38 chr14 19877187 19877187 + Missense_Mutation SNP A A T rs12883767 7316-883 BS_QYGZMWPC A A c.920A>T p.Asn307Ile p.N307I ENST00000641885 2/2 102 67 35 68 58 10 OR4K2,missense_variant,p.Asn307Ile,ENST00000641885,;OR4K2,missense_variant,p.Asn307Ile,ENST00000298642,NM_001005501.1;OR4K2,intron_variant,,ENST00000641522,;OR4K2,intron_variant,,ENST00000641785,; T ENSG00000165762 ENST00000641885 Transcript missense_variant 1936/8681 920/945 307/314 N/I aAt/aTt rs12883767,COSM3753844 1 1 OR4K2 HGNC HGNC:14728 protein_coding YES CCDS32023.1 ENSP00000493007 Q8NGD2 A0A126GVP5 UPI0000041B4D tolerated(0.06) benign(0.14) 2/2 Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF260 0.2790 0.2239 0.2839 0.122 0.4742 0.3108 0.2243 0.3781 0,1 MODERATE 1 SNV 0,1 PASS AAT . . 0.3663 0.2643 0.2177 0.4329 0.09639 0.4667 0.4649 0.3903 0.3111 19877187 LIPG . GRCh38 chr18 49575501 49575501 + Missense_Mutation SNP C C A novel 7316-883 BS_QYGZMWPC C C c.704C>A p.Pro235His p.P235H ENST00000261292 5/10 54 23 31 43 41 1 LIPG,missense_variant,p.Pro235His,ENST00000261292,NM_006033.3;LIPG,missense_variant,p.Pro271His,ENST00000577628,;LIPG,missense_variant,p.Pro235His,ENST00000580036,;LIPG,intron_variant,,ENST00000427224,NM_001308006.1; A ENSG00000101670 ENST00000261292 Transcript missense_variant 982/10441 704/1503 235/500 P/H cCt/cAt 1 1 LIPG HGNC HGNC:6623 protein_coding YES CCDS11938.1 ENSP00000261292 Q9Y5X9 A0A024R2B5 UPI000012E706 NM_006033.3 deleterious(0) probably_damaging(0.999) 5/10 cd00707,hmmpanther:PTHR11610:SF13,hmmpanther:PTHR11610,PIRSF_domain:PIRSF000865,Pfam_domain:PF00151,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474,Prints_domain:PR00822 MODERATE 1 SNV 1 PASS CCT . . 49575501 ZNF208 . GRCh38 chr19 21973094 21973094 + Missense_Mutation SNP A A C rs1345240038 7316-883 BS_QYGZMWPC A A c.1940T>G p.Ile647Ser p.I647S ENST00000397126 4/4 60 47 12 38 36 0 ZNF208,missense_variant,p.Ile647Ser,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Ile547Ser,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; C ENSG00000160321 ENST00000397126 Transcript missense_variant 2089/3992 1940/3843 647/1280 I/S aTt/aGt rs1345240038,COSM1304312,COSM1304311,COSM1304310 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(1) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,hmmpanther:PTHR24384:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1,1 MODERATE 1 SNV 3 0,1,1,1 PASS AAT . . 21973094 ZNF681 . GRCh38 chr19 23744337 23744337 + Missense_Mutation SNP T T G rs1852431 7316-883 BS_QYGZMWPC T T c.1213A>C p.Lys405Gln p.K405Q ENST00000402377 4/4 72 63 8 31 30 0 ZNF681,missense_variant,p.Lys405Gln,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; G ENSG00000196172 ENST00000402377 Transcript missense_variant 1355/6497 1213/1938 405/645 K/Q Aag/Cag rs1852431,COSM6303076,COSM6303075,COSM4744674,COSM4744673 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 tolerated(0.84) benign(0.014) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS TTG . . 23744337 ERF . GRCh38 chr19 42254976 42254976 + Splice_Site SNP A A C novel 7316-883 BS_QYGZMWPC A A c.22+2T>G p.X8_splice ENST00000222329 46 37 6 33 32 1 ERF,splice_donor_variant,,ENST00000222329,NM_006494.3;AC006486.1,splice_donor_variant,,ENST00000594664,;ERF,upstream_gene_variant,,ENST00000440177,NM_001301035.1,NM_001312656.1,NM_001308402.1;ERF,upstream_gene_variant,,ENST00000593944,;ERF,upstream_gene_variant,,ENST00000598965,;ERF,upstream_gene_variant,,ENST00000595941,;ERF,splice_donor_variant,,ENST00000596818,;ERF,upstream_gene_variant,,ENST00000595448,;,regulatory_region_variant,,ENSR00000109783,;,TF_binding_site_variant,,PB0010.1,;,TF_binding_site_variant,,MA0162.2,; C ENSG00000105722 ENST00000222329 Transcript splice_donor_variant 1 -1 ERF HGNC HGNC:3444 protein_coding YES CCDS12600.1 ENSP00000222329 P50548 A0A024R0L4 UPI000000106F NM_006494.3 1/3 HIGH 1 SNV 1 1 PASS CAC . . 42254976 SRRM5 . GRCh38 chr19 43613715 43613715 + Missense_Mutation SNP C C G rs1364970629 7316-883 BS_QYGZMWPC C C c.1594C>G p.Gln532Glu p.Q532E ENST00000607544 3/3 56 46 8 24 24 0 SRRM5,missense_variant,p.Gln532Glu,ENST00000607544,;SRRM5,missense_variant,p.Gln532Glu,ENST00000417606,NM_001145641.1;ZNF428,intron_variant,,ENST00000300811,NM_182498.3;ZNF428,intron_variant,,ENST00000598676,;ZNF428,downstream_gene_variant,,ENST00000595304,; G ENSG00000226763 ENST00000607544 Transcript missense_variant 1916/2698 1594/2148 532/715 Q/E Cag/Gag rs1364970629 1 1 SRRM5 HGNC HGNC:37248 protein_coding YES CCDS46095.1 ENSP00000476253 B3KS81 UPI000059D73E tolerated(1) benign(0) 3/3 hmmpanther:PTHR39414,mobidb-lite MODERATE SNV 2 PASS ACA . . 1.35e-05 1.757e-05 4.394e-05 43613715 CCDC8 . GRCh38 chr19 46411487 46411487 + Missense_Mutation SNP G G C rs1163735259 7316-883 BS_QYGZMWPC G G c.1324C>G p.His442Asp p.H442D ENST00000307522 1/1 62 55 7 37 35 1 CCDC8,missense_variant,p.His442Asp,ENST00000307522,NM_032040.4; C ENSG00000169515 ENST00000307522 Transcript missense_variant 2098/3213 1324/1617 442/538 H/D Cat/Gat rs1163735259,COSM6205530 1 -1 CCDC8 HGNC HGNC:25367 protein_coding YES CCDS12685.1 ENSP00000303158 Q9H0W5 UPI00000730F2 NM_032040.4 tolerated_low_confidence(0.34) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR23095:SF2,hmmpanther:PTHR23095 0,1 MODERATE 1 SNV 0,1 1 PASS TGT . . 46411487 TUBGCP6 . GRCh38 chr22 50221187 50221187 + Missense_Mutation SNP C C T rs868199449 7316-883 BS_QYGZMWPC C C c.3172G>A p.Asp1058Asn p.D1058N ENST00000248846 16/25 59 50 6 34 33 0 TUBGCP6,missense_variant,p.Asp1058Asn,ENST00000439308,;TUBGCP6,missense_variant,p.Asp1058Asn,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; T ENSG00000128159 ENST00000248846 Transcript missense_variant 3277/5612 3172/5460 1058/1819 D/N Gac/Aac rs868199449,COSM6211461 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 deleterious(0.04) benign(0.386) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCA . . 50221187 ENO1 . GRCh38 chr1 8874896 8874896 + Missense_Mutation SNP T T G novel 7316-306 BS_FJ9W9C74 T T c.13A>C p.Lys5Gln p.K5Q ENST00000646539 2/12 54 46 7 45 45 0 ENO1,missense_variant,p.Lys5Gln,ENST00000646539,NM_001428.3,NM_001201483.1;ENO1,missense_variant,p.Lys5Gln,ENST00000647408,NM_001353346.2;ENO1,missense_variant,p.Lys5Gln,ENST00000234590,;ENO1,missense_variant,p.Lys5Gln,ENST00000497492,;ENO1,missense_variant,p.Lys5Gln,ENST00000489867,;ENO1,missense_variant,p.Lys5Gln,ENST00000646660,;ENO1,missense_variant,p.Lys5Gln,ENST00000643438,;ENO1,missense_variant,p.Lys5Gln,ENST00000646906,;ENO1,5_prime_UTR_variant,,ENST00000646156,;ENO1-AS1,upstream_gene_variant,,ENST00000442636,;ENO1,downstream_gene_variant,,ENST00000414948,;ENO1,upstream_gene_variant,,ENST00000645600,;ENO1,missense_variant,p.Lys5Gln,ENST00000646370,;ENO1,missense_variant,p.Lys5Gln,ENST00000646680,;ENO1,non_coding_transcript_exon_variant,,ENST00000645609,;ENO1,non_coding_transcript_exon_variant,,ENST00000492343,;ENO1,non_coding_transcript_exon_variant,,ENST00000486051,;ENO1,upstream_gene_variant,,ENST00000464920,; G ENSG00000074800 ENST00000646539 Transcript missense_variant 693/2345 13/1305 5/434 K/Q Aag/Cag 1 -1 ENO1 HGNC HGNC:3350 protein_coding YES CCDS97.1 ENSP00000493526 A0A024R4F1 UPI000013C9AF NM_001428.3,NM_001201483.1 deleterious_low_confidence(0.04) benign(0.153) 2/12 cd03313,PIRSF_domain:PIRSF001400,TIGRFAM_domain:TIGR01060,Pfam_domain:PF03952,Gene3D:3.30.390.10,SMART_domains:SM01193,Superfamily_domains:SSF54826,HAMAP:MF_00318,hmmpanther:PTHR11902,hmmpanther:PTHR11902:SF12,SFLDG00178,SFLDF00002,SFLDS00001 MODERATE SNV PASS TTG . . 8874896 ARHGEF10L . GRCh38 chr1 17624495 17624495 + Missense_Mutation SNP T T G novel 7316-306 BS_FJ9W9C74 T T c.1309T>G p.Phe437Val p.F437V ENST00000361221 13/29 89 77 12 35 32 3 ARHGEF10L,missense_variant,p.Phe437Val,ENST00000361221,NM_018125.3;ARHGEF10L,missense_variant,p.Phe398Val,ENST00000375415,NM_001319837.1,NM_001011722.2;ARHGEF10L,missense_variant,p.Phe215Val,ENST00000375408,NM_001319838.1,NM_001328124.1;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;ARHGEF10L,upstream_gene_variant,,ENST00000167825,;,regulatory_region_variant,,ENSR00000002276,; G ENSG00000074964 ENST00000361221 Transcript missense_variant 1468/4488 1309/3840 437/1279 F/V Ttc/Gtc 1 1 ARHGEF10L HGNC HGNC:25540 protein_coding YES CCDS182.1 ENSP00000355060 Q9HCE6 UPI00004CA9C5 NM_018125.3 deleterious(0) possibly_damaging(0.543) 13/29 Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16,SMART_domains:SM00325,Superfamily_domains:SSF48065,cd00160 MODERATE 1 SNV 1 1 PASS GTT . . 17624495 SPAG17 . GRCh38 chr1 118074598 118074598 + Missense_Mutation SNP G G T novel 7316-306 BS_FJ9W9C74 G G c.2212C>A p.Gln738Lys p.Q738K ENST00000336338 16/49 72 46 25 37 37 0 SPAG17,missense_variant,p.Gln738Lys,ENST00000336338,NM_206996.2;SPAG17,splice_region_variant,,ENST00000473472,;SPAG17,intron_variant,,ENST00000477444,; T ENSG00000155761 ENST00000336338 Transcript missense_variant,splice_region_variant 2278/6924 2212/6672 738/2223 Q/K Cag/Aag 1 -1 SPAG17 HGNC HGNC:26620 protein_coding YES CCDS899.1 ENSP00000337804 Q6Q759 UPI00001601FD NM_206996.2 tolerated(0.3) benign(0.085) 16/49 hmmpanther:PTHR21963,mobidb-lite MODERATE 1 SNV 1 PASS TGC . . 118074598 FLG2 . GRCh38 chr1 152352104 152352104 + Missense_Mutation SNP A A T 7316-306 BS_FJ9W9C74 A A c.5682T>A p.His1894Gln p.H1894Q ENST00000388718 3/3 65 46 8 34 33 1 FLG2,missense_variant,p.His1894Gln,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 5755/9124 5682/7176 1894/2391 H/Q caT/caA COSM6263567 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) possibly_damaging(0.879) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS TAT . . 152352104 FLG2 . GRCh38 chr1 152356171 152356171 + Missense_Mutation SNP G G C 7316-306 BS_FJ9W9C74 G G c.1615C>G p.Arg539Gly p.R539G ENST00000388718 3/3 84 73 8 37 36 0 FLG2,missense_variant,p.Arg539Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 1688/9124 1615/7176 539/2391 R/G Cgt/Ggt COSM1293199 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.5) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS CGT . . 152356171 MR1 . GRCh38 chr1 181049197 181049197 + Nonsense_Mutation SNP G G A novel 7316-306 BS_FJ9W9C74 G G c.213G>A p.Trp71Ter p.W71* ENST00000614012 3/7 70 42 27 33 33 0 MR1,stop_gained,p.Trp71Ter,ENST00000614012,NM_001531.2;MR1,stop_gained,p.Trp71Ter,ENST00000367580,;MR1,stop_gained,p.Trp71Ter,ENST00000617803,NM_001310213.1,NM_001195000.1;MR1,stop_gained,p.Trp71Ter,ENST00000434571,NM_001195035.1;MR1,stop_gained,p.Trp71Ter,ENST00000282990,;MR1,stop_gained,p.Trp71Ter,ENST00000367579,NM_001194999.1;MR1,non_coding_transcript_exon_variant,,ENST00000438435,;MR1,non_coding_transcript_exon_variant,,ENST00000367578,;MR1,non_coding_transcript_exon_variant,,ENST00000486453,; A ENSG00000153029 ENST00000614012 Transcript stop_gained 374/7860 213/1026 71/341 W/* tgG/tgA 1 1 MR1 HGNC HGNC:4975 protein_coding YES CCDS1342.1 ENSP00000477563 Q95460 UPI0000072BD9 NM_001531.2 3/7 Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF192,Superfamily_domains:SSF54452 HIGH 1 SNV 5 PASS GGA . . 181049197 ANKRD20A8P . GRCh38 chr2 94815545 94815545 + Missense_Mutation SNP A A C novel 7316-306 BS_FJ9W9C74 A A c.1958T>G p.Val653Gly p.V653G ENST00000432432 15/15 47 35 12 45 44 0 ANKRD20A8P,missense_variant,p.Val653Gly,ENST00000432432,;ANKRD20A8P,non_coding_transcript_exon_variant,,ENST00000590226,; C ENSG00000229089 ENST00000432432 Transcript missense_variant 2071/3512 1958/2472 653/823 V/G gTa/gGa 1 -1 ANKRD20A8P HGNC HGNC:23666 protein_coding YES ENSP00000493420 Q5CZ79 UPI00001AED8D deleterious(0) benign(0.027) 15/15 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1,Pfam_domain:PF14915,Gene3D:1.10.287.620 MODERATE 1 SNV 1 PASS TAC . . 94815545 RGPD3 . GRCh38 chr2 106457045 106457045 + Missense_Mutation SNP C C T rs62152530 7316-306 BS_FJ9W9C74 C C c.331G>A p.Asp111Asn p.D111N ENST00000409886 4/23 70 29 41 45 40 4 RGPD3,missense_variant,p.Asp111Asn,ENST00000409886,NM_001144013.1;RGPD3,missense_variant,p.Asp111Asn,ENST00000304514,; T ENSG00000153165 ENST00000409886 Transcript missense_variant 419/5594 331/5277 111/1758 D/N Gat/Aat rs62152530,COSM3836503,COSM3836502 1 -1 RGPD3 HGNC HGNC:32416 protein_coding YES CCDS46379.1 ENSP00000386588 A6NKT7 UPI00006C049F NM_001144013.1 deleterious(0.04) probably_damaging(0.977) 4/23 Gene3D:1.25.40.10,Superfamily_domains:SSF48452 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS TCA . . 0.7249 0.6037 0.7848 0.6842 0.9254 0.7643 0.6671 0.6906 0.8101 106457045 BAZ2B . GRCh38 chr2 159325678 159325678 + Missense_Mutation SNP C C T novel 7316-306 BS_FJ9W9C74 C C c.6184G>A p.Asp2062Asn p.D2062N ENST00000392783 35/37 51 42 9 25 25 0 BAZ2B,missense_variant,p.Asp2062Asn,ENST00000392783,NM_013450.3;BAZ2B,missense_variant,p.Asp2026Asn,ENST00000392782,NM_001289975.1;BAZ2B,downstream_gene_variant,,ENST00000474437,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000548440,; T ENSG00000123636 ENST00000392783 Transcript missense_variant 6680/8289 6184/6507 2062/2168 D/N Gac/Aac 1 -1 BAZ2B HGNC HGNC:963 protein_coding YES CCDS2209.2 ENSP00000376534 Q9UIF8 UPI0000D74C4A NM_013450.3 tolerated(0.95) benign(0.003) 35/37 Gene3D:1.20.920.10,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF154,SMART_domains:SM00297,Superfamily_domains:SSF47370 MODERATE 1 SNV 5 PASS TCA . . 159325678 LHFPL4 . GRCh38 chr3 9502314 9502315 + Splice_Region INS - - AG rs777667673 7316-306 BS_FJ9W9C74 - - c.644-5_644-4dup ENST00000287585 46 29 10 45 40 1 LHFPL4,splice_region_variant,,ENST00000287585,NM_198560.2; AG ENSG00000156959 ENST00000287585 Transcript splice_region_variant,intron_variant rs777667673,TMP_ESP_3_9543999_9544002 1 -1 LHFPL4 HGNC HGNC:29568 protein_coding YES CCDS33691.1 ENSP00000287585 Q7Z7J7 UPI000019B16A NM_198560.2 3/3 0.01547 0.008117 LOW 1 insertion 1 PASS TAA . . 0.008296 0.01022 0.01071 0.005561 0.04537 0.005643 0.001598 0.007609 0.01316 9502314 LEF1 . GRCh38 chr4 108063647 108063647 + Missense_Mutation SNP C C T novel 7316-306 BS_FJ9W9C74 C C c.1182G>A p.Met394Ile p.M394I ENST00000265165 11/12 65 48 14 32 30 0 LEF1,missense_variant,p.Met394Ile,ENST00000265165,NM_016269.4;LEF1,missense_variant,p.Met366Ile,ENST00000438313,NM_001130713.2;LEF1,missense_variant,p.Met298Ile,ENST00000510624,NM_001166119.1;LEF1,intron_variant,,ENST00000379951,NM_001130714.2;LEF1,non_coding_transcript_exon_variant,,ENST00000504426,;LEF1,non_coding_transcript_exon_variant,,ENST00000510135,;LEF1,non_coding_transcript_exon_variant,,ENST00000509428,;LEF1,non_coding_transcript_exon_variant,,ENST00000514444,;LEF1,non_coding_transcript_exon_variant,,ENST00000505297,;LEF1,non_coding_transcript_exon_variant,,ENST00000512407,;LEF1,intron_variant,,ENST00000503879,;LEF1,intron_variant,,ENST00000505379,;LEF1,3_prime_UTR_variant,,ENST00000506680,;LEF1,non_coding_transcript_exon_variant,,ENST00000507470,; T ENSG00000138795 ENST00000265165 Transcript missense_variant 1837/3068 1182/1200 394/399 M/I atG/atA 1 -1 LEF1 HGNC HGNC:6551 protein_coding YES CCDS3679.1 ENSP00000265165 Q9UJU2 A0A024RDI7 UPI0000052242 NM_016269.4 deleterious_low_confidence(0.05) benign(0.003) 11/12 hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF11,mobidb-lite MODERATE 1 SNV 1 1 PASS TCA . . 108063647 CFAP97 . GRCh38 chr4 185164064 185164064 + Missense_Mutation SNP C C T rs765438262 7316-306 BS_FJ9W9C74 C C c.1436G>A p.Arg479Gln p.R479Q ENST00000458385 4/5 70 55 12 37 37 0 CFAP97,missense_variant,p.Arg479Gln,ENST00000458385,NM_020827.2;CFAP97,downstream_gene_variant,,ENST00000514798,NM_001292033.1; T ENSG00000164323 ENST00000458385 Transcript missense_variant 1556/4852 1436/1599 479/532 R/Q cGg/cAg rs765438262,COSM6694057 1 -1 CFAP97 HGNC HGNC:29276 protein_coding YES CCDS47168.1 ENSP00000409964 Q9P2B7 UPI00001971F9 NM_020827.2 tolerated(0.1) benign(0.012) 4/5 hmmpanther:PTHR23035,hmmpanther:PTHR23035:SF1 0,1 MODERATE 1 SNV 2 0,1 PASS CCG . . 4.064e-06 8.963e-06 185164064 CHSY3 . GRCh38 chr5 129905466 129905466 + Missense_Mutation SNP A A C novel 7316-306 BS_FJ9W9C74 A A c.637A>C p.Asn213His p.N213H ENST00000305031 1/3 63 54 7 52 50 1 CHSY3,missense_variant,p.Asn213His,ENST00000305031,NM_175856.4;AC008591.1,intron_variant,,ENST00000503616,;AC008591.1,intron_variant,,ENST00000515569,;CHSY3,upstream_gene_variant,,ENST00000507545,;,regulatory_region_variant,,ENSR00000186621,; C ENSG00000198108 ENST00000305031 Transcript missense_variant 995/3850 637/2649 213/882 N/H Aac/Cac 1 1 CHSY3 HGNC HGNC:24293 protein_coding YES CCDS34223.1 ENSP00000302629 Q70JA7 UPI0000251E08 NM_175856.4 tolerated(0.14) benign(0.025) 1/3 Gene3D:3.90.550.10,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF40,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAA . . 129905466 EIF4EBP3 . GRCh38 chr5 140547831 140547831 + Missense_Mutation SNP A A C novel 7316-306 BS_FJ9W9C74 A A c.94A>C p.Thr32Pro p.T32P ENST00000310331 1/3 59 46 9 37 32 0 EIF4EBP3,missense_variant,p.Thr32Pro,ENST00000310331,NM_003732.2;ANKHD1-EIF4EBP3,intron_variant,,ENST00000437495,;ANKHD1-EIF4EBP3,intron_variant,,ENST00000532219,NM_020690.5;SRA1,intron_variant,,ENST00000602657,;SRA1,downstream_gene_variant,,ENST00000336283,NM_001035235.3;SRA1,downstream_gene_variant,,ENST00000520427,;ANKHD1-EIF4EBP3,intron_variant,,ENST00000474060,;SRA1,downstream_gene_variant,,ENST00000523259,;SRA1,downstream_gene_variant,,ENST00000602775,;SRA1,downstream_gene_variant,,ENST00000602875,NM_001253764.1;,regulatory_region_variant,,ENSR00000187794,; C ENSG00000243056 ENST00000310331 Transcript missense_variant 166/691 94/303 32/100 T/P Acc/Ccc 1 1 EIF4EBP3 HGNC HGNC:3290 protein_coding YES CCDS4226.1 ENSP00000308472 O60516 UPI0000073709 NM_003732.2 deleterious(0) probably_damaging(0.974) 1/3 Pfam_domain:PF05456,hmmpanther:PTHR12669,hmmpanther:PTHR12669:SF5 MODERATE 1 SNV 1 PASS TAC . . 140547831 TRIM15 . GRCh38 chr6 30163939 30163939 + Missense_Mutation SNP G G T novel 7316-306 BS_FJ9W9C74 G G c.255G>T p.Glu85Asp p.E85D ENST00000376694 1/7 62 54 8 29 29 0 TRIM15,missense_variant,p.Glu16Asp,ENST00000619857,;TRIM15,missense_variant,p.Glu85Asp,ENST00000376694,NM_033229.2;TRIM15,missense_variant,p.Glu85Asp,ENST00000376688,;TRIM10,upstream_gene_variant,,ENST00000376704,NM_052828.2;TRIM15,upstream_gene_variant,,ENST00000433744,;TRIM10,upstream_gene_variant,,ENST00000449742,NM_006778.3;,regulatory_region_variant,,ENSR00000195372,; T ENSG00000204610 ENST00000376694 Transcript missense_variant 724/2214 255/1398 85/465 E/D gaG/gaT 1 1 TRIM15 HGNC HGNC:16284 protein_coding YES CCDS4677.1 ENSP00000365884 Q9C019 Q5SRL0 UPI0000137066 NM_033229.2 deleterious(0.01) probably_damaging(0.988) 1/7 Gene3D:3.30.40.10,Pfam_domain:PF00643,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF259,SMART_domains:SM00336,Superfamily_domains:SSF57845,Superfamily_domains:SSF57850,cd00021 MODERATE 1 SNV 1 PASS AGC . . 30163939 GARS . GRCh38 chr7 30632330 30632330 + Missense_Mutation SNP G G A novel 7316-306 BS_FJ9W9C74 G G c.1987G>A p.Glu663Lys p.E663K ENST00000389266 16/17 92 86 6 42 42 0 GARS,missense_variant,p.Glu663Lys,ENST00000389266,NM_002047.3,NM_001316772.1;GARS,non_coding_transcript_exon_variant,,ENST00000496643,;GARS,non_coding_transcript_exon_variant,,ENST00000485784,;GARS,non_coding_transcript_exon_variant,,ENST00000465748,;GARS,downstream_gene_variant,,ENST00000444666,;GARS,downstream_gene_variant,,ENST00000470392,; A ENSG00000106105 ENST00000389266 Transcript missense_variant 2228/2634 1987/2220 663/739 E/K Gag/Aag 1 1 GARS HGNC HGNC:4162 protein_coding YES CCDS43564.1 ENSP00000373918 P41250 UPI00005A885C NM_002047.3,NM_001316772.1 deleterious(0) probably_damaging(0.999) 16/17 PDB-ENSP_mappings:2pme.A,PDB-ENSP_mappings:2pmf.A,PDB-ENSP_mappings:2q5h.A,PDB-ENSP_mappings:2q5i.A,PDB-ENSP_mappings:2zt5.A,PDB-ENSP_mappings:2zt6.A,PDB-ENSP_mappings:2zt7.A,PDB-ENSP_mappings:2zt8.A,PDB-ENSP_mappings:2zxf.A,Gene3D:3.40.50.800,PDB-ENSP_mappings:4kqe.A,PDB-ENSP_mappings:4kr2.A,PDB-ENSP_mappings:4kr3.A,PDB-ENSP_mappings:4qei.A,PDB-ENSP_mappings:5e6m.A,PDB-ENSP_mappings:5e6m.B,Pfam_domain:PF03129,Prints_domain:PR01043,hmmpanther:PTHR10745,hmmpanther:PTHR10745:SF0,Superfamily_domains:SSF52954,TIGRFAM_domain:TIGR00389,cd00858 MODERATE 1 SNV 1 1 PASS TGA . . 30632330 KCP . GRCh38 chr7 128881065 128881065 + Missense_Mutation SNP C C T novel 7316-306 BS_FJ9W9C74 C C c.3445G>A p.Gly1149Ser p.G1149S ENST00000610776 32/40 99 81 14 23 23 0 KCP,missense_variant,p.Gly1149Ser,ENST00000610776,;KCP,intron_variant,,ENST00000613019,;KCP,intron_variant,,ENST00000620378,NM_001135914.1;KCP,intron_variant,,ENST00000611280,;KCP,upstream_gene_variant,,ENST00000460528,;KCP,upstream_gene_variant,,ENST00000492679,; T ENSG00000135253 ENST00000610776 Transcript missense_variant 3488/5108 3445/4887 1149/1628 G/S Ggc/Agc 1 -1 KCP HGNC HGNC:17585 protein_coding YES ENSP00000479679 A0A087WVT8 UPI0004620CE8 deleterious(0.02) probably_damaging(0.991) 32/40 Gene3D:2.10.70.10,Pfam_domain:PF00093,PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF280,SMART_domains:SM00214,Superfamily_domains:SSF57603 MODERATE 1 SNV 5 PASS CCC . . 128881065 ZNF250 . GRCh38 chr8 144881869 144881869 + Missense_Mutation SNP T T A novel 7316-306 BS_FJ9W9C74 T T c.1329A>T p.Arg443Ser p.R443S ENST00000292579 6/6 65 52 5 48 45 1 ZNF250,missense_variant,p.Arg443Ser,ENST00000292579,NM_021061.4;ZNF250,missense_variant,p.Arg438Ser,ENST00000417550,NM_001109689.3;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,downstream_gene_variant,,ENST00000533221,;ZNF250,downstream_gene_variant,,ENST00000533622,;ZNF250,intron_variant,,ENST00000528258,;ZNF250,intron_variant,,ENST00000529780,;ZNF250,intron_variant,,ENST00000533543,; A ENSG00000196150 ENST00000292579 Transcript missense_variant 1446/6364 1329/1683 443/560 R/S agA/agT 1 -1 ZNF250 HGNC HGNC:13044 protein_coding YES CCDS34972.1 ENSP00000292579 P15622 UPI0000197F51 NM_021061.4 tolerated(0.07) possibly_damaging(0.803) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF112,PROSITE_patterns:PS00028,Gene3D:2.20.28.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CTC . . 144881869 KRTAP5-3 . GRCh38 chr11 1607926 1607926 + Missense_Mutation SNP T T A rs75371407 7316-306 BS_FJ9W9C74 T T c.460A>T p.Ser154Cys p.S154C ENST00000399685 1/1 55 43 9 44 41 0 KRTAP5-3,missense_variant,p.Ser154Cys,ENST00000399685,NM_001012708.2;,regulatory_region_variant,,ENSR00000035812,; A ENSG00000196224 ENST00000399685 Transcript missense_variant 538/899 460/717 154/238 S/C Agc/Tgc rs75371407,COSM3747868 1 -1 KRTAP5-3 HGNC HGNC:23598 protein_coding YES CCDS41591.1 ENSP00000382592 Q6L8H2 UPI000037605E NM_001012708.2 tolerated(0.12) benign(0.001) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF134,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 0,1 PASS CTG . . 1607926 KCNK4 . GRCh38 chr11 64299659 64299659 + Missense_Mutation SNP A A C novel 7316-306 BS_FJ9W9C74 A A c.1115A>C p.Asn372Thr p.N372T ENST00000539216 6/6 51 43 6 40 37 3 KCNK4,missense_variant,p.Asn372Thr,ENST00000539216,;KCNK4,missense_variant,p.Asn372Thr,ENST00000422670,NM_033310.2;KCNK4,missense_variant,p.Asn372Thr,ENST00000394525,NM_001317090.1;KCNK4,missense_variant,p.Lys256Asn,ENST00000538767,;CATSPERZ,upstream_gene_variant,,ENST00000328404,NM_001039496.1;CATSPERZ,upstream_gene_variant,,ENST00000539943,;RF00019,downstream_gene_variant,,ENST00000384297,;AP001453.3,non_coding_transcript_exon_variant,,ENST00000539086,;KCNK4,downstream_gene_variant,,ENST00000539651,;KCNK4,3_prime_UTR_variant,,ENST00000541349,;KCNK4,non_coding_transcript_exon_variant,,ENST00000536690,;KCNK4,downstream_gene_variant,,ENST00000453423,;CATSPERZ,upstream_gene_variant,,ENST00000535981,;KCNK4,downstream_gene_variant,,ENST00000538846,;KCNK4,downstream_gene_variant,,ENST00000545838,; C ENSG00000182450 ENST00000539216 Transcript missense_variant 1475/1723 1115/1182 372/393 N/T aAt/aCt 1 1 KCNK4 HGNC HGNC:6279 protein_coding YES CCDS8067.1 ENSP00000444948 Q9NYG8 A0A024R5C7 UPI0000042377 deleterious(0.01) benign(0.102) 6/6 hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF30,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAT . . 64299659 PELI3 . GRCh38 chr11 66475774 66475774 + Frame_Shift_Del DEL G G - novel 7316-306 BS_FJ9W9C74 G G c.1018del p.Ala340ProfsTer236 p.A340Pfs*236 ENST00000320740 8/8 53 33 17 52 51 0 PELI3,frameshift_variant,p.Ala316ProfsTer236,ENST00000349459,NM_001098510.1;PELI3,frameshift_variant,p.Ala340ProfsTer236,ENST00000320740,NM_145065.2;PELI3,frameshift_variant,p.Ala277ProfsTer236,ENST00000618547,NM_001243135.1;PELI3,frameshift_variant,p.Ala233ProfsTer?,ENST00000526296,NM_001243136.1;PELI3,3_prime_UTR_variant,,ENST00000528752,;PELI3,downstream_gene_variant,,ENST00000524466,;DPP3,upstream_gene_variant,,ENST00000526515,;PELI3,downstream_gene_variant,,ENST00000527230,;DPP3,upstream_gene_variant,,ENST00000530165,NM_001256670.1;DPP3,upstream_gene_variant,,ENST00000531314,;DPP3,upstream_gene_variant,,ENST00000531863,;DPP3,upstream_gene_variant,,ENST00000532019,;DPP3,upstream_gene_variant,,ENST00000532677,;DPP3,upstream_gene_variant,,ENST00000533725,;DPP3,upstream_gene_variant,,ENST00000541961,NM_130443.3,NM_005700.4;AP002748.3,intron_variant,,ENST00000527092,;AP002748.3,intron_variant,,ENST00000533502,;AP002748.3,downstream_gene_variant,,ENST00000525142,;AP002748.3,downstream_gene_variant,,ENST00000527274,;AP002748.3,upstream_gene_variant,,ENST00000602951,;PELI3,intron_variant,,ENST00000531856,;DPP3,upstream_gene_variant,,ENST00000531272,;DPP3,upstream_gene_variant,,ENST00000544603,;PELI3,3_prime_UTR_variant,,ENST00000532970,; - ENSG00000174516 ENST00000320740 Transcript frameshift_variant 1177/2740 1017/1410 339/469 L/X ctG/ct 1 1 PELI3 HGNC HGNC:30010 protein_coding YES CCDS31615.1 ENSP00000322532 Q8N2H9 A0A024R5B1 UPI00000707EF NM_145065.2 8/8 Gene3D:3.30.40.10,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886,hmmpanther:PTHR12098,hmmpanther:PTHR12098:SF9 HIGH 1 deletion 1 1 PASS CTGG . . 66475773 KRT71 . GRCh38 chr12 52550240 52550240 + Missense_Mutation SNP G G A rs779740913 7316-306 BS_FJ9W9C74 G G c.445C>T p.Arg149Trp p.R149W ENST00000267119 2/9 70 52 16 35 34 0 KRT71,missense_variant,p.Arg149Trp,ENST00000267119,NM_033448.2; A ENSG00000139648 ENST00000267119 Transcript missense_variant 515/2265 445/1572 149/523 R/W Cgg/Tgg rs779740913 1 -1 KRT71 HGNC HGNC:28927 protein_coding YES CCDS8831.1 ENSP00000267119 Q3SY84 UPI0000052B57 NM_033448.2 deleterious(0.04) probably_damaging(0.995) 2/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF116,hmmpanther:PTHR23239,Gene3D:1.20.5.340,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593 MODERATE 1 SNV 1 1 PASS CGC . . 2.843e-05 0.0001191 1.791e-05 3.249e-05 52550240 NXPH4 . GRCh38 chr12 57225550 57225551 + Frame_Shift_Ins INS - - GCAAGCA novel 7316-306 BS_FJ9W9C74 - - c.731_737dup p.His246GlnfsTer44 p.H246Qfs*44 ENST00000349394 2/2 65 52 10 34 28 0 NXPH4,frameshift_variant,p.His246GlnfsTer44,ENST00000349394,NM_007224.3;SHMT2,upstream_gene_variant,,ENST00000328923,NM_005412.5;SHMT2,upstream_gene_variant,,ENST00000414700,NM_001166358.1;SHMT2,upstream_gene_variant,,ENST00000449049,NM_001166357.1;SHMT2,upstream_gene_variant,,ENST00000553474,NM_001166359.1;SHMT2,upstream_gene_variant,,ENST00000553529,;SHMT2,upstream_gene_variant,,ENST00000554310,;SHMT2,upstream_gene_variant,,ENST00000554975,;SHMT2,upstream_gene_variant,,ENST00000555634,;SHMT2,upstream_gene_variant,,ENST00000555773,;SHMT2,upstream_gene_variant,,ENST00000556689,;SHMT2,upstream_gene_variant,,ENST00000557427,;SHMT2,upstream_gene_variant,,ENST00000557487,NM_001166356.1;SHMT2,upstream_gene_variant,,ENST00000557703,;AC137834.2,downstream_gene_variant,,ENST00000617433,;SHMT2,upstream_gene_variant,,ENST00000554600,;SHMT2,upstream_gene_variant,,ENST00000554656,;NXPH4,downstream_gene_variant,,ENST00000555154,;SHMT2,upstream_gene_variant,,ENST00000557740,;NXPH4,3_prime_UTR_variant,,ENST00000556415,;SHMT2,upstream_gene_variant,,ENST00000553324,;SHMT2,upstream_gene_variant,,ENST00000553837,;SHMT2,upstream_gene_variant,,ENST00000553950,;SHMT2,upstream_gene_variant,,ENST00000554467,;SHMT2,upstream_gene_variant,,ENST00000554604,;SHMT2,upstream_gene_variant,,ENST00000555116,;SHMT2,upstream_gene_variant,,ENST00000555563,;SHMT2,upstream_gene_variant,,ENST00000555774,;SHMT2,upstream_gene_variant,,ENST00000556825,;SHMT2,upstream_gene_variant,,ENST00000557269,;SHMT2,upstream_gene_variant,,ENST00000557302,;SHMT2,upstream_gene_variant,,ENST00000557348,;SHMT2,upstream_gene_variant,,ENST00000557433,;,regulatory_region_variant,,ENSR00000052627,; GCAAGCA ENSG00000182379 ENST00000349394 Transcript frameshift_variant 905-906/1804 730-731/927 244/308 R/RKQX cgc/cGCAAGCAgc 1 1 NXPH4 HGNC HGNC:8078 protein_coding YES CCDS8933.1 ENSP00000333593 O95158 UPI000004C619 NM_007224.3 2/2 hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF10,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019 HIGH 1 insertion 1 7 PASS GCG . . 57225550 APAF1 . GRCh38 chr12 98662734 98662734 + Missense_Mutation SNP T T G rs1321851268 7316-306 BS_FJ9W9C74 T T c.883T>G p.Leu295Val p.L295V ENST00000551964 7/27 50 42 7 32 31 0 APAF1,missense_variant,p.Leu295Val,ENST00000357310,NM_181868.1;APAF1,missense_variant,p.Leu284Val,ENST00000359972,NM_001160.2;APAF1,missense_variant,p.Leu284Val,ENST00000550527,NM_013229.2;APAF1,missense_variant,p.Leu295Val,ENST00000551964,NM_181861.1;APAF1,missense_variant,p.Leu295Val,ENST00000333991,NM_181869.1;APAF1,missense_variant,p.Leu295Val,ENST00000547045,;APAF1,missense_variant,p.Leu295Val,ENST00000549007,;APAF1,missense_variant,p.Leu295Val,ENST00000552268,; G ENSG00000120868 ENST00000551964 Transcript missense_variant 1619/5444 883/3747 295/1248 L/V Tta/Gta rs1321851268 1 1 APAF1 HGNC HGNC:576 protein_coding YES CCDS9069.1 ENSP00000448165 O14727 UPI0000036328 NM_181861.1 deleterious(0) probably_damaging(1) 7/27 Pfam_domain:PF00931,PIRSF_domain:PIRSF037646,hmmpanther:PTHR22845,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS TTT . . 98662734 TSC22D1 . GRCh38 chr13 44574570 44574572 + In_Frame_Del DEL TGC TGC - rs749160984 7316-306 BS_FJ9W9C74 TGC TGC c.1503_1505del p.Gln509del p.Q509del ENST00000458659 1/3 66 49 6 31 31 0 TSC22D1,inframe_deletion,p.Gln509del,ENST00000458659,NM_183422.3;TSC22D1,inframe_deletion,p.Gln509del,ENST00000501704,NM_001243799.1;TSC22D1,downstream_gene_variant,,ENST00000493016,;TSC22D1-AS1,upstream_gene_variant,,ENST00000616360,;TSC22D1-AS1,upstream_gene_variant,,ENST00000617014,;TSC22D1,upstream_gene_variant,,ENST00000460842,;TSC22D1,upstream_gene_variant,,ENST00000486464,; - ENSG00000102804 ENST00000458659 Transcript inframe_deletion 1994-1996/4820 1503-1505/3222 501-502/1073 QQ/Q caGCAa/caa rs749160984,TMP_ESP_13_45148706_45148711,COSM1477235 1 -1 TSC22D1 HGNC HGNC:16826 protein_coding YES CCDS31966.1 ENSP00000397435 Q15714 UPI0000D61A6B NM_183422.3 1/3 Low_complexity_(Seg):seg,hmmpanther:PTHR12348:SF21,hmmpanther:PTHR12348,Gene3D:4.10.280.10 0.06707 0.02992 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS GTTGCT . . 0.0002466 0.0002022 0.0003092 0.0001071 0.0001191 0.0001902 0.000263 0.0003808 0.0002747 44574569 SLC15A1 . GRCh38 chr13 98686183 98686183 + Splice_Region SNP G G A rs778528979 7316-306 BS_FJ9W9C74 G G c.1935+7C>T ENST00000376503 38 13 24 37 36 0 SLC15A1,splice_region_variant,,ENST00000376503,NM_005073.3; A ENSG00000088386 ENST00000376503 Transcript splice_region_variant,intron_variant rs778528979 1 -1 SLC15A1 HGNC HGNC:10920 protein_coding YES CCDS9489.1 ENSP00000365686 P46059 B2CQT6 UPI000013166F NM_005073.3 22/22 LOW 1 SNV 1 PASS CGC . . 1.23e-05 9.044e-05 3.301e-05 98686183 FAM161B . GRCh38 chr14 73940940 73940940 + Missense_Mutation SNP C C A novel 7316-306 BS_FJ9W9C74 C C c.1575G>T p.Arg525Ser p.R525S ENST00000286544 5/9 58 43 15 38 38 0 FAM161B,missense_variant,p.Arg525Ser,ENST00000286544,NM_152445.2;FAM161B,upstream_gene_variant,,ENST00000556794,;AC005480.1,upstream_gene_variant,,ENST00000555916,; A ENSG00000156050 ENST00000286544 Transcript missense_variant 1774/4078 1575/2133 525/710 R/S agG/agT 1 -1 FAM161B HGNC HGNC:19854 protein_coding YES CCDS9822.2 ENSP00000286544 Q96MY7 UPI000206535E NM_152445.2 deleterious(0) probably_damaging(0.944) 5/9 Pfam_domain:PF10595,hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF4 MODERATE 1 SNV 1 PASS CCC . . 73940940 ISM2 . GRCh38 chr14 77484870 77484870 + Missense_Mutation SNP G G C rs995267805 7316-306 BS_FJ9W9C74 G G c.191C>G p.Pro64Arg p.P64R ENST00000342219 2/7 60 51 9 28 28 0 ISM2,missense_variant,p.Pro64Arg,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Pro64Arg,ENST00000493585,NM_182509.3;ISM2,missense_variant,p.Pro64Arg,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,; C ENSG00000100593 ENST00000342219 Transcript missense_variant 248/2971 191/1716 64/571 P/R cCa/cGa rs995267805 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 deleterious_low_confidence(0.04) benign(0.328) 2/7 hmmpanther:PTHR10239,hmmpanther:PTHR10239:SF28,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TGG . . 0.001371 0.002056 0.002179 0.001284 0.003088 9.756e-05 0.0009434 0.001783 0.001752 77484870 DYNC1H1 . GRCh38 chr14 101986350 101986350 + Missense_Mutation SNP C C T 7316-306 BS_FJ9W9C74 C C c.2125C>T p.Arg709Cys p.R709C ENST00000360184 8/78 64 52 12 35 35 0 DYNC1H1,missense_variant,p.Arg709Cys,ENST00000360184,NM_001376.4;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000643684,; T ENSG00000197102 ENST00000360184 Transcript missense_variant 2307/20003 2125/13941 709/4646 R/C Cgc/Tgc COSM4049129 1 1 DYNC1H1 HGNC HGNC:2961 protein_coding YES CCDS9966.1 ENSP00000348965 Q14204 UPI00001B515A NM_001376.4 deleterious(0) probably_damaging(0.995) 8/78 PDB-ENSP_mappings:5nug.A,PDB-ENSP_mappings:5nug.B,PDB-ENSP_mappings:6f1t.e,PDB-ENSP_mappings:6f1t.f,PDB-ENSP_mappings:6f1t.m,PDB-ENSP_mappings:6f1t.n,PDB-ENSP_mappings:6f1u.f,PDB-ENSP_mappings:6f1u.m,PDB-ENSP_mappings:6f1u.n,PDB-ENSP_mappings:6f1v.f,PDB-ENSP_mappings:6f1v.m,PDB-ENSP_mappings:6f38.e,PDB-ENSP_mappings:6f38.f,PDB-ENSP_mappings:6f38.m,PDB-ENSP_mappings:6f38.n,PDB-ENSP_mappings:6f3a.e,PDB-ENSP_mappings:6f3a.f,Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF314 1 MODERATE 1 SNV 1 1 1 PASS GCG . . 101986350 AHNAK2 . GRCh38 chr14 104950740 104950740 + Missense_Mutation SNP C C A novel 7316-306 BS_FJ9W9C74 C C c.4711G>T p.Gly1571Cys p.G1571C ENST00000333244 7/7 33 27 6 19 18 0 AHNAK2,missense_variant,p.Gly1571Cys,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; A ENSG00000185567 ENST00000333244 Transcript missense_variant 4831/18254 4711/17388 1571/5795 G/C Ggc/Tgc 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 deleterious(0) probably_damaging(0.973) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS CCG . . 104950740 TUBGCP4 . GRCh38 chr15 43380132 43380132 + Missense_Mutation SNP G G A novel 7316-306 BS_FJ9W9C74 G G c.490G>A p.Gly164Arg p.G164R ENST00000260383 6/18 61 51 10 40 40 0 TUBGCP4,missense_variant,p.Gly164Arg,ENST00000564079,NM_014444.4;TUBGCP4,missense_variant,p.Gly164Arg,ENST00000260383,NM_001286414.2;TUBGCP4,downstream_gene_variant,,ENST00000570081,;TUBGCP4,missense_variant,p.Gly83Arg,ENST00000561691,;TUBGCP4,missense_variant,p.Gly21Arg,ENST00000563412,;TUBGCP4,non_coding_transcript_exon_variant,,ENST00000564511,;TUBGCP4,downstream_gene_variant,,ENST00000563517,; A ENSG00000137822 ENST00000260383 Transcript missense_variant 744/2617 490/2004 164/667 G/R Ggg/Agg 1 1 TUBGCP4 HGNC HGNC:16691 protein_coding YES CCDS66745.1 ENSP00000260383 Q9UGJ1 UPI000012B2EC NM_001286414.2 deleterious(0) probably_damaging(1) 6/18 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF27 MODERATE 1 SNV 1 1 PASS GGG . . 43380132 CLN6 . GRCh38 chr15 68211701 68211701 + Missense_Mutation SNP T T C rs758634306 7316-306 BS_FJ9W9C74 T T c.460A>G p.Ile154Val p.I154V ENST00000249806 4/7 58 40 17 35 34 0 CLN6,missense_variant,p.Ile154Val,ENST00000249806,NM_017882.2;CLN6,missense_variant,p.Ile186Val,ENST00000538696,;CLN6,missense_variant,p.Ile154Val,ENST00000564752,;CLN6,missense_variant,p.Ile121Val,ENST00000637667,;AC107871.1,intron_variant,,ENST00000562767,;CLN6,intron_variant,,ENST00000565471,;CLN6,intron_variant,,ENST00000566347,;CLN6,intron_variant,,ENST00000636314,;CLN6,intron_variant,,ENST00000637494,;CLN6,non_coding_transcript_exon_variant,,ENST00000563917,;CLN6,intron_variant,,ENST00000638144,;AC107871.1,upstream_gene_variant,,ENST00000638026,;CLN6,missense_variant,p.Ile154Val,ENST00000638076,;CLN6,3_prime_UTR_variant,,ENST00000637329,;CLN6,3_prime_UTR_variant,,ENST00000635747,;CLN6,3_prime_UTR_variant,,ENST00000636212,;CLN6,3_prime_UTR_variant,,ENST00000637450,;CLN6,non_coding_transcript_exon_variant,,ENST00000636964,;CLN6,non_coding_transcript_exon_variant,,ENST00000636674,;CLN6,intron_variant,,ENST00000567060,;AC107871.1,intron_variant,,ENST00000637054,;CLN6,intron_variant,,ENST00000637223,;CLN6,intron_variant,,ENST00000637823,;AC107871.1,intron_variant,,ENST00000637888,;AC107871.1,intron_variant,,ENST00000646164,;CLN6,downstream_gene_variant,,ENST00000564846,;CLN6,downstream_gene_variant,,ENST00000635754,;CLN6,downstream_gene_variant,,ENST00000636020,; C ENSG00000128973 ENST00000249806 Transcript missense_variant 619/2243 460/936 154/311 I/V Atc/Gtc rs758634306 1 -1 CLN6 HGNC HGNC:2077 protein_coding YES CCDS10227.1 ENSP00000249806 Q9NWW5 A0A024R601 UPI000006D91F NM_017882.2 deleterious(0.03) benign(0.054) 4/7 hmmpanther:PTHR16244,Pfam_domain:PF15156 MODERATE 1 SNV 1 1 PASS ATG . . 4.065e-06 3.249e-05 68211701 TBC1D2B . GRCh38 chr15 78003358 78003358 + Missense_Mutation SNP C C T rs750959599 7316-306 BS_FJ9W9C74 C C c.2521G>A p.Val841Ile p.V841I ENST00000300584 11/13 57 42 13 33 33 0 TBC1D2B,missense_variant,p.Val841Ile,ENST00000409931,NM_015079.5;TBC1D2B,missense_variant,p.Val841Ile,ENST00000300584,NM_144572.1;TBC1D2B,upstream_gene_variant,,ENST00000465531,;TBC1D2B,upstream_gene_variant,,ENST00000459715,;TBC1D2B,upstream_gene_variant,,ENST00000492078,;TBC1D2B,non_coding_transcript_exon_variant,,ENST00000472786,;TBC1D2B,non_coding_transcript_exon_variant,,ENST00000497942,;TBC1D2B,upstream_gene_variant,,ENST00000418039,;TBC1D2B,upstream_gene_variant,,ENST00000491479,; T ENSG00000167202 ENST00000300584 Transcript missense_variant 2521/6067 2521/2892 841/963 V/I Gtt/Att rs750959599,COSM4057104,COSM4057103 1 -1 TBC1D2B HGNC HGNC:29183 protein_coding YES CCDS45314.1 ENSP00000300584 Q9UPU7 UPI0000E02247 NM_144572.1 tolerated(0.63) probably_damaging(0.951) 11/13 Low_complexity_(Seg):seg,PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF231,hmmpanther:PTHR22957,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ACG . . 1.218e-05 5.798e-05 8.952e-06 3.249e-05 78003358 ATAD5 . GRCh38 chr17 30894883 30894884 + Frame_Shift_Del DEL TG TG - novel 7316-306 BS_FJ9W9C74 TG TG c.5507_5508del p.Val1836GlufsTer6 p.V1836Efs*6 ENST00000321990 23/23 73 53 15 37 36 0 ATAD5,frameshift_variant,p.Val1836GlufsTer6,ENST00000321990,NM_024857.4;TEFM,downstream_gene_variant,,ENST00000580840,;TEFM,downstream_gene_variant,,ENST00000581216,NM_024683.3;AC130324.3,upstream_gene_variant,,ENST00000614165,;TEFM,downstream_gene_variant,,ENST00000579183,;TEFM,downstream_gene_variant,,ENST00000306049,; - ENSG00000176208 ENST00000321990 Transcript frameshift_variant 5883-5884/6869 5505-5506/5535 1835-1836/1844 TV/TX acTGtg/actg 1 1 ATAD5 HGNC HGNC:25752 protein_coding YES CCDS11260.1 ENSP00000313171 Q96QE3 UPI0000071E9E NM_024857.4 23/23 HIGH 1 deletion 1 2 PASS ACTGT . . 30894882 SRSF2 . GRCh38 chr17 76736795 76736795 + Splice_Region SNP T T G novel 7316-306 BS_FJ9W9C74 T T c.362+4A>C ENST00000392485 71 57 12 50 47 3 SRSF2,splice_region_variant,,ENST00000358156,;SRSF2,splice_region_variant,,ENST00000359995,NM_001195427.1;SRSF2,splice_region_variant,,ENST00000392485,NM_003016.4;MFSD11,5_prime_UTR_variant,,ENST00000588460,;MFSD11,5_prime_UTR_variant,,ENST00000586622,;MFSD11,5_prime_UTR_variant,,ENST00000621483,NM_001242534.1;SRSF2,intron_variant,,ENST00000508921,;SRSF2,intron_variant,,ENST00000583836,;AC005837.2,intron_variant,,ENST00000587459,;MFSD11,upstream_gene_variant,,ENST00000336509,NM_001242532.1,NM_024311.3,NM_001242535.1,NM_001242533.1;METTL23,downstream_gene_variant,,ENST00000341249,;MFSD11,upstream_gene_variant,,ENST00000355954,NM_001242537.1,NM_001242536.1;METTL23,downstream_gene_variant,,ENST00000586200,;MFSD11,upstream_gene_variant,,ENST00000586689,;METTL23,downstream_gene_variant,,ENST00000586738,;METTL23,downstream_gene_variant,,ENST00000586752,;MFSD11,upstream_gene_variant,,ENST00000587661,;METTL23,downstream_gene_variant,,ENST00000588302,;METTL23,downstream_gene_variant,,ENST00000588563,;METTL23,downstream_gene_variant,,ENST00000588783,;METTL23,downstream_gene_variant,,ENST00000588822,;METTL23,downstream_gene_variant,,ENST00000588964,;METTL23,downstream_gene_variant,,ENST00000589977,;MFSD11,upstream_gene_variant,,ENST00000590393,;MFSD11,upstream_gene_variant,,ENST00000590514,;METTL23,downstream_gene_variant,,ENST00000590964,NM_001206985.2,NM_001302704.1,NM_001206987.2,NM_001206986.2;METTL23,downstream_gene_variant,,ENST00000591571,;MFSD11,upstream_gene_variant,,ENST00000591864,;METTL23,downstream_gene_variant,,ENST00000592849,;MFSD11,upstream_gene_variant,,ENST00000593181,;METTL23,downstream_gene_variant,,ENST00000615984,NM_001302705.1,NM_001302703.1,NM_001206983.2,NM_001080510.4,NM_001206984.2;MIR636,upstream_gene_variant,,ENST00000384825,;SRSF2,splice_region_variant,,ENST00000452355,;SRSF2,splice_region_variant,,ENST00000585202,;SRSF2,upstream_gene_variant,,ENST00000582449,;SRSF2,upstream_gene_variant,,ENST00000586778,;MFSD11,upstream_gene_variant,,ENST00000588031,;MFSD11,upstream_gene_variant,,ENST00000588670,;MFSD11,upstream_gene_variant,,ENST00000588768,;METTL23,downstream_gene_variant,,ENST00000589581,;SRSF2,upstream_gene_variant,,ENST00000589919,;SRSF2,upstream_gene_variant,,ENST00000592676,;,regulatory_region_variant,,ENSR00000098628,; G ENSG00000161547 ENST00000392485 Transcript splice_region_variant,intron_variant 1 -1 SRSF2 HGNC HGNC:10783 protein_coding YES CCDS11749.1 ENSP00000376276 Q01130 A0A024R8U5 UPI0000000C2A NM_003016.4 1/1 LOW 1 SNV 1 1 PASS TTT . . 76736795 TCF4 . GRCh38 chr18 55269878 55269878 + Missense_Mutation SNP C C A novel 7316-306 BS_FJ9W9C74 C C c.1181G>T p.Ser394Ile p.S394I ENST00000398339 12/21 77 66 10 40 39 0 TCF4,missense_variant,p.Ser268Ile,ENST00000636400,NM_001348217.1,NM_001348211.1,NM_001348218.1;TCF4,missense_variant,p.Ser292Ile,ENST00000356073,NM_003199.2,NM_001348220.1,NM_001348219.1,NM_001330604.2;TCF4,missense_variant,p.Ser208Ile,ENST00000616053,;TCF4,missense_variant,p.Ser292Ile,ENST00000635822,;TCF4,missense_variant,p.Ser292Ile,ENST00000638154,;TCF4,missense_variant,p.Ser162Ile,ENST00000636822,;TCF4,missense_variant,p.Ser162Ile,ENST00000643689,NM_001348215.1;TCF4,missense_variant,p.Ser76Ile,ENST00000637169,NM_001348216.1;TCF4,missense_variant,p.Ser292Ile,ENST00000629387,;TCF4,missense_variant,p.Ser292Ile,ENST00000564999,;TCF4,missense_variant,p.Ser292Ile,ENST00000354452,NM_001083962.1;TCF4,missense_variant,p.Ser132Ile,ENST00000570287,NM_001243235.1;TCF4,missense_variant,p.Ser268Ile,ENST00000537578,NM_001243227.1;TCF4,missense_variant,p.Ser298Ile,ENST00000564403,NM_001243228.1;TCF4,missense_variant,p.Ser267Ile,ENST00000568740,;TCF4,missense_variant,p.Ser268Ile,ENST00000540999,NM_001306207.1;TCF4,missense_variant,p.Ser394Ile,ENST00000398339,NM_001243226.2;TCF4,missense_variant,p.Ser250Ile,ENST00000543082,NM_001243231.1;TCF4,missense_variant,p.Ser268Ile,ENST00000568673,;TCF4,missense_variant,p.Ser132Ile,ENST00000457482,NM_001243234.1;TCF4,missense_variant,p.Ser208Ile,ENST00000565018,;TCF4,missense_variant,p.Ser221Ile,ENST00000544241,NM_001243232.1;TCF4,missense_variant,p.Ser162Ile,ENST00000561992,NM_001243233.1;TCF4,missense_variant,p.Ser232Ile,ENST00000566279,;TCF4,missense_variant,p.Ser290Ile,ENST00000566286,NM_001243230.1;TCF4,missense_variant,p.Ser162Ile,ENST00000537856,;TCF4,missense_variant,p.Ser232Ile,ENST00000567880,;TCF4,missense_variant,p.Ser221Ile,ENST00000564228,NM_001306208.1;TCF4,missense_variant,p.Ser162Ile,ENST00000570177,;TCF4,missense_variant,p.Ser132Ile,ENST00000561831,NM_001243236.1;TCF4,missense_variant,p.Ser76Ile,ENST00000626584,;TCF4,missense_variant,p.Ser132Ile,ENST00000630720,;TCF4,missense_variant,p.Ser162Ile,ENST00000628078,;TCF4,missense_variant,p.Ser162Ile,ENST00000562030,;TCF4,missense_variant,p.Ser279Ile,ENST00000566514,;TCF4,missense_variant,p.Ser162Ile,ENST00000628636,;TCF4,missense_variant,p.Ser162Ile,ENST00000629343,;TCF4,missense_variant,p.Ser222Ile,ENST00000630828,;TCF4,missense_variant,p.Ser47Ile,ENST00000570146,;TCF4,missense_variant,p.Ser162Ile,ENST00000562607,;TCF4,missense_variant,p.Ser162Ile,ENST00000569012,;TCF4,downstream_gene_variant,,ENST00000566777,;TCF4,downstream_gene_variant,,ENST00000568169,;TCF4,downstream_gene_variant,,ENST00000625925,;TCF4,downstream_gene_variant,,ENST00000630268,;TCF4,downstream_gene_variant,,ENST00000630319,;TCF4,non_coding_transcript_exon_variant,,ENST00000637239,;TCF4,non_coding_transcript_exon_variant,,ENST00000637250,;TCF4,non_coding_transcript_exon_variant,,ENST00000635990,;TCF4,non_coding_transcript_exon_variant,,ENST00000563760,;TCF4,intron_variant,,ENST00000627136,;TCF4,3_prime_UTR_variant,,ENST00000636751,;TCF4,3_prime_UTR_variant,,ENST00000637115,;TCF4,3_prime_UTR_variant,,ENST00000637923,;TCF4,3_prime_UTR_variant,,ENST00000628689,;TCF4,non_coding_transcript_exon_variant,,ENST00000563686,;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;TCF4,upstream_gene_variant,,ENST00000628360,; A ENSG00000196628 ENST00000398339 Transcript missense_variant 1311/2551 1181/2322 394/773 S/I aGc/aTc 1 -1 TCF4 HGNC HGNC:11634 protein_coding YES CCDS58631.1 ENSP00000381382 E9PH57 UPI0000EE5B9B NM_001243226.2 tolerated(0.13) probably_damaging(0.936) 12/21 hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10,mobidb-lite MODERATE 1 SNV 1 1 PASS GCT . . 55269878 PHLPP1 . GRCh38 chr18 62716879 62716879 + Missense_Mutation SNP A A C novel 7316-306 BS_FJ9W9C74 A A c.1196A>C p.His399Pro p.H399P ENST00000262719 1/17 73 61 11 44 40 4 PHLPP1,missense_variant,p.His399Pro,ENST00000262719,NM_194449.3;,regulatory_region_variant,,ENSR00000104398,; C ENSG00000081913 ENST00000262719 Transcript missense_variant 1430/6390 1196/5154 399/1717 H/P cAc/cCc 1 1 PHLPP1 HGNC HGNC:20610 protein_coding YES CCDS45881.2 ENSP00000262719 O60346 UPI000051AE2E NM_194449.3 tolerated_low_confidence(0.31) benign(0) 1/17 mobidb-lite MODERATE 1 SNV 1 PASS CAC . . 62716879 MUC16 . GRCh38 chr19 8979607 8979607 + Missense_Mutation SNP G G A novel 7316-306 BS_FJ9W9C74 G G c.1532C>T p.Ser511Phe p.S511F ENST00000397910 1/84 63 50 13 30 30 0 MUC16,missense_variant,p.Ser511Phe,ENST00000397910,NM_024690.2; A ENSG00000181143 ENST00000397910 Transcript missense_variant 1736/43816 1532/43524 511/14507 S/F tCc/tTc 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0.005) 1/84 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 MODERATE 1 SNV 5 1 PASS GGA . . 8979607 ZNF85 . GRCh38 chr19 20949851 20949851 + Missense_Mutation SNP A A T novel 7316-306 BS_FJ9W9C74 A A c.1337A>T p.Lys446Ile p.K446I ENST00000328178 4/4 33 27 5 33 32 0 ZNF85,missense_variant,p.Lys446Ile,ENST00000328178,NM_003429.4;ZNF85,missense_variant,p.Lys413Ile,ENST00000345030,;ZNF85,missense_variant,p.Lys394Ile,ENST00000596534,;ZNF85,downstream_gene_variant,,ENST00000595742,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000599885,NM_001256173.1;ZNF85,downstream_gene_variant,,ENST00000601284,NM_001256171.1;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,non_coding_transcript_exon_variant,,ENST00000601023,; T ENSG00000105750 ENST00000328178 Transcript missense_variant 1450/2296 1337/1788 446/595 K/I aAa/aTa 1 1 ZNF85 HGNC HGNC:13160 protein_coding YES CCDS32977.1 ENSP00000329793 Q03923 UPI0000203897 NM_003429.4 tolerated(0.51) benign(0.103) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAA . . 20949851 ZNF91 . GRCh38 chr19 23361450 23361450 + Missense_Mutation SNP A A C 7316-306 BS_FJ9W9C74 A A c.1529T>G p.Ile510Arg p.I510R ENST00000300619 4/4 50 43 7 34 33 0 ZNF91,missense_variant,p.Ile510Arg,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Ile478Arg,ENST00000397082,NM_001300951.1;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,; C ENSG00000167232 ENST00000300619 Transcript missense_variant 1735/5489 1529/3576 510/1191 I/R aTa/aGa COSM6833791,COSM6833790 1 -1 ZNF91 HGNC HGNC:13166 protein_coding YES CCDS42541.1 ENSP00000300619 Q05481 UPI00002038F9 NM_003430.3 tolerated(0.98) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF42,hmmpanther:PTHR24376:SF42,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS TAT . . 23361450 PRX . GRCh38 chr19 40396869 40396869 + Missense_Mutation SNP C C G rs146789340 7316-306 BS_FJ9W9C74 C C c.1483G>C p.Glu495Gln p.E495Q ENST00000324001 7/7 53 41 8 27 26 0 PRX,missense_variant,p.Glu495Gln,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2; G ENSG00000105227 ENST00000324001 Transcript missense_variant 1754/4855 1483/4386 495/1461 E/Q Gag/Cag rs146789340,COSM6240074 1 -1 PRX HGNC HGNC:13797 protein_coding YES CCDS33028.1 ENSP00000326018 Q9BXM0 UPI000044CC1A NM_181882.2 tolerated(0.68) benign(0) 7/7 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF42 0.0056 0.0015 0.0058 0.0119 0.0102 0.002951 0.01651 benign 0,1 MODERATE 1 SNV 1 1,1 1 PASS TCT . . 0.00489 0.001128 0.003105 0.00291 0.01135 0.005931 0.006479 0.003413 40396869 ZNF112 . GRCh38 chr19 44327703 44327703 + Missense_Mutation SNP G G C rs1157020665 7316-306 BS_FJ9W9C74 G G c.2472C>G p.His824Gln p.H824Q ENST00000337401 5/5 60 48 6 29 28 0 ZNF112,missense_variant,p.His818Gln,ENST00000354340,NM_013380.3,NM_001348282.1,NM_001348285.1,NM_001348281.1,NM_001348283.1,NM_001348284.1;ZNF112,missense_variant,p.His824Gln,ENST00000337401,NM_001083335.1;ZNF112,downstream_gene_variant,,ENST00000587909,;ZNF112,downstream_gene_variant,,ENST00000588057,;AC245748.1,downstream_gene_variant,,ENST00000588212,;ZNF112,downstream_gene_variant,,ENST00000590687,;ZNF112,downstream_gene_variant,,ENST00000592151,; C ENSG00000062370 ENST00000337401 Transcript missense_variant 2561/3321 2472/2742 824/913 H/Q caC/caG rs1157020665,COSM6297183,COSM6297182,COSM6297181 1 -1 ZNF112 HGNC HGNC:12892 protein_coding YES CCDS54276.1 ENSP00000337081 Q9UJU3 UPI000006EC70 NM_001083335.1 tolerated(1) benign(0.137) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF90,PROSITE_patterns:PS00028,Gene3D:2.20.28.30,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS TGT . . 44327703 RFPL4A . GRCh38 chr19 55763021 55763021 + Missense_Mutation SNP A A G rs1265757771 7316-306 BS_FJ9W9C74 A A c.710A>G p.His237Arg p.H237R ENST00000434937 3/3 73 60 13 40 40 0 RFPL4A,missense_variant,p.His237Arg,ENST00000434937,NM_001145014.1; G ENSG00000223638 ENST00000434937 Transcript missense_variant 881/1035 710/864 237/287 H/R cAt/cGt rs1265757771 1 1 RFPL4A HGNC HGNC:16449 protein_coding YES CCDS46201.1 ENSP00000392936 A6NLU0 UPI0000D6181F NM_001145014.1 deleterious(0.04) probably_damaging(0.942) 3/3 PDB-ENSP_mappings:2fbe.A,PDB-ENSP_mappings:2fbe.B,PDB-ENSP_mappings:2fbe.C,PDB-ENSP_mappings:2fbe.D,Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF238,SMART_domains:SM00449,Superfamily_domains:SSF49899,cd15821 MODERATE 1 SNV 5 PASS CAT . . 55763021 NLRP8 . GRCh38 chr19 55955134 55955134 + Missense_Mutation SNP C C T rs545765634 7316-306 BS_FJ9W9C74 C C c.1076C>T p.Thr359Met p.T359M ENST00000291971 3/10 67 45 22 38 37 0 NLRP8,missense_variant,p.Thr359Met,ENST00000291971,NM_176811.2;NLRP8,missense_variant,p.Thr359Met,ENST00000590542,NM_001317000.1; T ENSG00000179709 ENST00000291971 Transcript missense_variant 1147/3934 1076/3147 359/1048 T/M aCg/aTg rs545765634,COSM1735040 1 1 NLRP8 HGNC HGNC:22940 protein_coding YES CCDS12937.1 ENSP00000291971 Q86W28 UPI00001BB3C9 NM_176811.2 tolerated(0.16) benign(0.017) 3/10 Pfam_domain:PF05729,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF54 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 8.127e-06 5.798e-05 3.249e-05 55955134 PCDH11X . GRCh38 chrX 91878506 91878506 + Missense_Mutation SNP T T A novel 7316-306 BS_FJ9W9C74 T T c.2266T>A p.Leu756Ile p.L756I ENST00000373094 2/7 31 19 12 38 38 0 PCDH11X,missense_variant,p.Leu756Ile,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Leu756Ile,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Leu756Ile,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Leu756Ile,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Leu756Ile,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Leu756Ile,ENST00000504220,NM_001168361.1;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,; A ENSG00000102290 ENST00000373094 Transcript missense_variant 3111/9179 2266/4044 756/1347 L/I Tta/Ata 1 1 PCDH11X HGNC HGNC:8656 protein_coding YES CCDS14461.1 ENSP00000362186 Q9BZA7 UPI0000070BD8 NM_032968.4 tolerated(0.07) probably_damaging(0.981) 2/7 Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR43912,hmmpanther:PTHR43912:SF1,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 MODERATE 1 SNV 1 PASS CTT . . 91878506 MAGEC1 . GRCh38 chrX 141907796 141907796 + Missense_Mutation SNP C C T 7316-306 BS_FJ9W9C74 C C c.2392C>T p.Pro798Ser p.P798S ENST00000285879 4/4 34 27 6 35 30 0 MAGEC1,missense_variant,p.Pro798Ser,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; T ENSG00000155495 ENST00000285879 Transcript missense_variant 2678/4270 2392/3429 798/1142 P/S Cct/Tct COSM365467 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 deleterious_low_confidence(0.04) benign(0.235) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS TCC . . 141907796 PRAMEF18 . GRCh38 chr1 13225044 13225044 + Missense_Mutation SNP C C G rs879235545 7316-304 BS_ATYBFKWJ C C c.677G>C p.Arg226Pro p.R226P ENST00000624297 2/3 124 91 32 35 33 2 PRAMEF18,missense_variant,p.Arg226Pro,ENST00000624297,NM_001099850.2; G ENSG00000279804 ENST00000624297 Transcript missense_variant 677/2067 677/1440 226/479 R/P cGt/cCt rs879235545 1 -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES ENSP00000485473 Q5VWM3 A0A096LP99 UPI0004423C16 NM_001099850.2 tolerated(1) benign(0) 2/3 hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF79,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047 MODERATE 1 SNV 1 PASS ACG . . 13225044 KLF18 . GRCh38 chr1 44139023 44139024 + In_Frame_Ins INS - - TCA rs773597072 7316-304 BS_ATYBFKWJ - - c.2606_2608dup p.Met869dup p.M869dup ENST00000634670 1/2 70 60 8 10 10 0 KLF18,inframe_insertion,p.Met869dup,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; TCA ENSG00000283039 ENST00000634670 Transcript inframe_insertion 2608-2609/3159 2608-2609/3159 870/1052 T/MT acc/aTGAcc rs773597072 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 1/2 Gene3D:2.150.10.10 MODERATE insertion 5 PASS GGT . . 44139023 IVL . GRCh38 chr1 152910503 152910503 + Missense_Mutation SNP C C T rs17855670 7316-304 BS_ATYBFKWJ C C c.706C>T p.Pro236Ser p.P236S ENST00000368764 2/2 79 59 18 14 14 0 IVL,missense_variant,p.Pro236Ser,ENST00000368764,NM_005547.2; T ENSG00000163207 ENST00000368764 Transcript missense_variant 770/2153 706/1758 236/585 P/S Cca/Tca rs17855670,COSM1334251 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated(0.12) benign(0.003) 2/2 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 2 0,1 PASS CCC . . 0.0009238 0.0003915 0.001592 0.009479 0.001258 152910503 CAPN8 . GRCh38 chr1 223628679 223628679 + Missense_Mutation SNP C C T novel 7316-304 BS_ATYBFKWJ C C c.409G>A p.Gly137Arg p.G137R ENST00000366872 3/21 95 37 56 14 13 0 CAPN8,missense_variant,p.Gly137Arg,ENST00000366873,;CAPN8,missense_variant,p.Gly137Arg,ENST00000366872,NM_001143962.1;CAPN8,missense_variant,p.Gly137Arg,ENST00000419193,;CAPN8,missense_variant,p.Gly10Arg,ENST00000465098,;CAPN8,3_prime_UTR_variant,,ENST00000467384,;CAPN8,non_coding_transcript_exon_variant,,ENST00000525760,;,regulatory_region_variant,,ENSR00000256923,; T ENSG00000203697 ENST00000366872 Transcript missense_variant 497/2427 409/2112 137/703 G/R Gga/Aga 1 -1 CAPN8 HGNC HGNC:1485 protein_coding YES CCDS73038.1 ENSP00000355837 A6NHC0 UPI0000157E1A NM_001143962.1 deleterious(0) probably_damaging(1) 3/21 Pfam_domain:PF00648,Prints_domain:PR00704,PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF374,SMART_domains:SM00230,Superfamily_domains:SSF54001,cd00044 MODERATE 1 SNV 1 PASS CCC . . 223628679 FIGN . GRCh38 chr2 163610809 163610810 + Frame_Shift_Ins INS - - GG rs1296999043 7316-304 BS_ATYBFKWJ - - c.1022_1023insCC p.Gln341HisfsTer35 p.Q341Hfs*35 ENST00000333129 3/3 81 63 10 21 21 0 FIGN,frameshift_variant,p.Gln341HisfsTer35,ENST00000333129,NM_018086.3;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,; GG ENSG00000182263 ENST00000333129 Transcript frameshift_variant 1337-1338/9536 1022-1023/2280 341/759 Q/HX cag/caCCg rs1296999043 1 -1 FIGN HGNC HGNC:13285 protein_coding YES CCDS2221.2 ENSP00000333836 Q5HY92 UPI000022BD13 NM_018086.3 3/3 hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14,mobidb-lite HIGH 1 insertion 1 PASS TCT . . 163610809 FIGN . GRCh38 chr2 163610828 163610829 + Frame_Shift_Del DEL TT TT - rs1464392854 7316-304 BS_ATYBFKWJ TT TT c.1003_1004del p.Asn335LeufsTer31 p.N335Lfs*31 ENST00000333129 3/3 88 68 12 23 22 0 FIGN,frameshift_variant,p.Asn335LeufsTer31,ENST00000333129,NM_018086.3;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,; - ENSG00000182263 ENST00000333129 Transcript frameshift_variant 1318-1319/9536 1003-1004/2280 335/759 N/X AAt/t rs1464392854 1 -1 FIGN HGNC HGNC:13285 protein_coding YES CCDS2221.2 ENSP00000333836 Q5HY92 UPI000022BD13 NM_018086.3 3/3 hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14 HIGH 1 deletion 1 PASS AATTT . . 163610827 ORC2 . GRCh38 chr2 200913994 200913995 + Splice_Region INS - - A rs201460825 7316-304 BS_ATYBFKWJ - - c.1467-3dup ENST00000234296 66 41 12 18 17 0 ORC2,splice_region_variant,,ENST00000234296,NM_006190.4;ORC2,splice_region_variant,,ENST00000464147,;,regulatory_region_variant,,ENSR00000128749,; A ENSG00000115942 ENST00000234296 Transcript splice_region_variant,intron_variant rs201460825,TMP_ESP_2_201778718_201778718 1 -1 ORC2 HGNC HGNC:8488 protein_coding YES CCDS2334.1 ENSP00000234296 Q13416 A0A024R411 UPI0000130E5A NM_006190.4 15/17 0.2256 0.1309 0.1787 0.3036 0.2147 0.318 0.1603 0.2421 LOW 1 insertion 1 PASS CTA . . 0.3427 0.2341 0.2851 0.3717 0.3888 0.402 0.3412 0.3465 0.3713 200913994 CNPPD1 . GRCh38 chr2 219172828 219172828 + Missense_Mutation SNP T T G rs1192915544 7316-304 BS_ATYBFKWJ T T c.991A>C p.Thr331Pro p.T331P ENST00000409789 9/9 61 44 10 14 13 0 CNPPD1,missense_variant,p.Thr331Pro,ENST00000409789,NM_001321389.1;CNPPD1,missense_variant,p.Thr331Pro,ENST00000360507,NM_001321390.1,NM_015680.5,NM_001321391.1;SLC23A3,upstream_gene_variant,,ENST00000295738,NM_144712.4;SLC23A3,upstream_gene_variant,,ENST00000409370,;SLC23A3,upstream_gene_variant,,ENST00000409878,NM_001144889.1;SLC23A3,upstream_gene_variant,,ENST00000430764,;CNPPD1,downstream_gene_variant,,ENST00000451647,;CNPPD1,downstream_gene_variant,,ENST00000453038,;SLC23A3,upstream_gene_variant,,ENST00000455516,NM_001144890.1;RETREG2,upstream_gene_variant,,ENST00000458520,NM_001321110.1,NM_001321109.1;SLC23A3,upstream_gene_variant,,ENST00000421779,;AC068946.1,upstream_gene_variant,,ENST00000318673,;SLC23A3,upstream_gene_variant,,ENST00000414999,;SLC23A3,upstream_gene_variant,,ENST00000461812,;SLC23A3,upstream_gene_variant,,ENST00000465580,;SLC23A3,upstream_gene_variant,,ENST00000497918,;AC068946.1,upstream_gene_variant,,ENST00000498327,; G ENSG00000115649 ENST00000409789 Transcript missense_variant 1419/2073 991/1233 331/410 T/P Act/Cct rs1192915544 1 -1 CNPPD1 HGNC HGNC:25220 protein_coding YES CCDS2433.1 ENSP00000386277 Q9BV87 UPI000013D5FA NM_001321389.1 tolerated_low_confidence(0.38) benign(0) 9/9 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 219172828 CNTN6 . GRCh38 chr3 1227850 1227850 + Missense_Mutation SNP C C G novel 7316-304 BS_ATYBFKWJ C C c.215C>G p.Thr72Ser p.T72S ENST00000446702 4/23 78 46 31 14 14 0 CNTN6,missense_variant,p.Thr72Ser,ENST00000446702,;CNTN6,missense_variant,p.Thr72Ser,ENST00000350110,NM_014461.3,NM_001289080.1,NM_001289081.1;CNTN6,3_prime_UTR_variant,,ENST00000397479,;CNTN6,3_prime_UTR_variant,,ENST00000394261,; G ENSG00000134115 ENST00000446702 Transcript missense_variant 842/4513 215/3087 72/1028 T/S aCt/aGt 1 1 CNTN6 HGNC HGNC:2176 protein_coding YES CCDS2557.1 ENSP00000407822 Q9UQ52 A0A024R2C7 UPI0000072430 tolerated(0.87) benign(0) 4/23 PROSITE_profiles:PS50835,hmmpanther:PTHR43905:SF6,hmmpanther:PTHR43905,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS ACT . . 1227850 RBM5 . GRCh38 chr3 50118455 50118456 + Frame_Shift_Del DEL GA GA - rs112672304 7316-304 BS_ATYBFKWJ GA GA c.*19_*20del ENST00000347869 25/25 62 49 8 10 9 0 RBM5,frameshift_variant,,ENST00000347869,NM_005778.3;SEMA3F-AS1,intron_variant,,ENST00000425674,;SEMA3F-AS1,intron_variant,,ENST00000437204,;RBM5,downstream_gene_variant,,ENST00000441812,;RBM5,downstream_gene_variant,,ENST00000474470,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000464988,;RBM5,downstream_gene_variant,,ENST00000461242,;RBM5,downstream_gene_variant,,ENST00000475128,;RBM5,downstream_gene_variant,,ENST00000475590,;RBM5,downstream_gene_variant,,ENST00000479275,;RBM5,downstream_gene_variant,,ENST00000492430,;RBM5,downstream_gene_variant,,ENST00000493993,; - ENSG00000003756 ENST00000347869 Transcript frameshift_variant,stop_lost 2622-2623/3188 2447-2448/2448 816/815 */X tGA/t rs112672304,COSM446742 1 1 RBM5 HGNC HGNC:9902 protein_coding YES CCDS2810.1 ENSP00000343054 P52756 A0A024R2U6 UPI000013337C NM_005778.3 25/25 0,1 HIGH 1 deletion 1 20 0,1 PASS GTGAG . . 0.3703 0.3833 0.2048 0.4303 0.417 0.3399 0.4031 0.3731 0.4404 50118454 GNAI2 . GRCh38 chr3 50257560 50257561 + Frame_Shift_Ins INS - - TGATACG novel 7316-304 BS_ATYBFKWJ - - c.938_939insTGATACG p.Lys313AsnfsTer28 p.K313Nfs*28 ENST00000313601 8/9 109 80 17 25 23 0 GNAI2,frameshift_variant,p.Lys313AsnfsTer28,ENST00000313601,NM_002070.3;GNAI2,frameshift_variant,p.Lys297AsnfsTer28,ENST00000422163,NM_001282619.1,NM_001282620.1;GNAI2,frameshift_variant,p.Lys261AsnfsTer28,ENST00000266027,NM_001282618.1,NM_001282617.1;GNAI2,frameshift_variant,p.Lys261AsnfsTer28,ENST00000440628,;GNAI2,frameshift_variant,p.Lys276AsnfsTer28,ENST00000451956,NM_001166425.1;U73166.1,upstream_gene_variant,,ENST00000426302,;U73166.1,upstream_gene_variant,,ENST00000439898,;U73166.1,upstream_gene_variant,,ENST00000453717,;GNAI2,non_coding_transcript_exon_variant,,ENST00000491100,;GNAI2,3_prime_UTR_variant,,ENST00000441156,;GNAI2,3_prime_UTR_variant,,ENST00000446079,;GNAI2,non_coding_transcript_exon_variant,,ENST00000490122,;GNAI2,non_coding_transcript_exon_variant,,ENST00000492383,;GNAI2,downstream_gene_variant,,ENST00000468422,; TGATACG ENSG00000114353 ENST00000313601 Transcript frameshift_variant 1322-1323/2464 938-939/1068 313/355 K/NDTX aag/aaTGATACGg 1 1 GNAI2 HGNC HGNC:4385 protein_coding YES CCDS2813.1 ENSP00000312999 P04899 UPI000000124B NM_002070.3 8/9 cd00066,hmmpanther:PTHR10218:SF73,hmmpanther:PTHR10218,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540 HIGH 1 insertion 1 1 PASS AAG . . 50257560 GNAI2 . GRCh38 chr3 50257564 50257570 + Frame_Shift_Del DEL CAAAGAC CAAAGAC - rs1332272879 7316-304 BS_ATYBFKWJ CAAAGAC CAAAGAC c.942_948del p.Lys315ProfsTer33 p.K315Pfs*33 ENST00000313601 8/9 107 85 17 22 22 0 GNAI2,frameshift_variant,p.Lys315ProfsTer33,ENST00000313601,NM_002070.3;GNAI2,frameshift_variant,p.Lys299ProfsTer33,ENST00000422163,NM_001282619.1,NM_001282620.1;GNAI2,frameshift_variant,p.Lys263ProfsTer33,ENST00000266027,NM_001282618.1,NM_001282617.1;GNAI2,frameshift_variant,p.Lys263ProfsTer33,ENST00000440628,;GNAI2,frameshift_variant,p.Lys278ProfsTer33,ENST00000451956,NM_001166425.1;U73166.1,upstream_gene_variant,,ENST00000426302,;U73166.1,upstream_gene_variant,,ENST00000439898,;U73166.1,upstream_gene_variant,,ENST00000453717,;GNAI2,non_coding_transcript_exon_variant,,ENST00000491100,;GNAI2,3_prime_UTR_variant,,ENST00000441156,;GNAI2,3_prime_UTR_variant,,ENST00000446079,;GNAI2,non_coding_transcript_exon_variant,,ENST00000490122,;GNAI2,non_coding_transcript_exon_variant,,ENST00000492383,;GNAI2,downstream_gene_variant,,ENST00000468422,; - ENSG00000114353 ENST00000313601 Transcript frameshift_variant 1326-1332/2464 942-948/1068 314-316/355 RKD/X cgCAAAGAC/cg rs1332272879 1 1 GNAI2 HGNC HGNC:4385 protein_coding YES CCDS2813.1 ENSP00000312999 P04899 UPI000000124B NM_002070.3 8/9 cd00066,hmmpanther:PTHR10218:SF73,hmmpanther:PTHR10218,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540 HIGH 1 deletion 1 1 PASS CGCAAAGACA . . 8.935e-06 3.421e-05 7.089e-05 50257563 HTR3D . GRCh38 chr3 184038914 184038914 + Missense_Mutation SNP G A A rs6789754 7316-304 BS_ATYBFKWJ G G c.1304G>A p.Arg435His p.R435H ENST00000382489 8/8 30 0 28 14 11 2 HTR3D,missense_variant,p.Arg435His,ENST00000382489,NM_001163646.1;HTR3D,missense_variant,p.Arg260His,ENST00000334128,NM_182537.2;HTR3D,missense_variant,p.Arg385His,ENST00000428798,NM_001145143.1;HTR3D,missense_variant,p.Arg214His,ENST00000453435,; A ENSG00000186090 ENST00000382489 Transcript missense_variant 1304/1674 1304/1365 435/454 R/H cGc/cAc rs6789754,COSM3759894,COSM3759893,COSM3759892 1 1 HTR3D HGNC HGNC:24004 protein_coding YES CCDS54685.1 ENSP00000371929 Q70Z44 UPI000024209D NM_001163646.1 tolerated(0.1) benign(0.16) 8/8 Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF746,Gene3D:1.20.58.390,Superfamily_domains:SSF90112 0.6785 0.8351 0.6455 0.754 0.5905 0.5031 0.7837 0.5873 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS CGC . . 0.5975 0.7965 0.6188 0.6249 0.7535 0.5156 0.5833 0.5945 0.4903 184038914 MUC4 . GRCh38 chr3 195788516 195788516 + Missense_Mutation SNP T T C rs13065584 7316-304 BS_ATYBFKWJ T T c.3064A>G p.Thr1022Ala p.T1022A ENST00000463781 2/25 32 19 6 18 16 0 MUC4,missense_variant,p.Thr1022Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr1022Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr1022Ala,ENST00000478156,;MUC4,missense_variant,p.Thr1022Ala,ENST00000466475,;MUC4,missense_variant,p.Thr1022Ala,ENST00000477756,;MUC4,missense_variant,p.Thr1022Ala,ENST00000477086,;MUC4,missense_variant,p.Thr1022Ala,ENST00000480843,;MUC4,missense_variant,p.Thr1022Ala,ENST00000462323,;MUC4,missense_variant,p.Thr1022Ala,ENST00000470451,;MUC4,missense_variant,p.Thr1022Ala,ENST00000479406,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 3524/17110 3064/16239 1022/5412 T/A Acc/Gcc rs13065584,COSM1131503 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.65) benign(0.224) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668,hmmpanther:PTHR42668 0.2831 0.2837 0.2478 0.3472 0.2614 0.2638 0,1 MODERATE 1 SNV 5 0,1 1 PASS GTG . . 0.003222 0.02009 0.00159 0.002173 0.001119 0.0009251 0.003142 0.002034 0.0006607 195788516 AC024587.2 . GRCh38 chr5 107705307 107705308 + Splice_Region INS - - A novel 7316-304 BS_ATYBFKWJ - - n.223-7dup ENST00000509458 69 42 13 20 18 0 AC024587.2,splice_region_variant,,ENST00000509458,;AC024587.2,intron_variant,,ENST00000502287,;,regulatory_region_variant,,ENSR00000184919,; A ENSG00000249959 ENST00000509458 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AC024587.2 Clone_based_ensembl_gene lincRNA YES 2/4 LOW 1 insertion 3 PASS AGA . . 107705307 C5orf60 . GRCh38 chr5 179643456 179643457 + Frame_Shift_Del DEL AA AA - rs1380176864 7316-304 BS_ATYBFKWJ AA AA c.314_315del p.Leu105ArgfsTer16 p.L105Rfs*16 ENST00000625191 3/6 76 59 12 18 18 0 C5orf60,frameshift_variant,p.Leu105ArgfsTer16,ENST00000625191,NM_001305388.1,NM_001142306.2;C5orf60,non_coding_transcript_exon_variant,,ENST00000506142,;C5orf60,frameshift_variant,p.Leu105ArgfsTer16,ENST00000512899,;C5orf60,3_prime_UTR_variant,,ENST00000513845,;C5orf60,non_coding_transcript_exon_variant,,ENST00000514664,;C5orf60,non_coding_transcript_exon_variant,,ENST00000511063,;C5orf60,downstream_gene_variant,,ENST00000503358,;C5orf60,downstream_gene_variant,,ENST00000513142,; - ENSG00000204661 ENST00000625191 Transcript frameshift_variant 340-341/1208 314-315/834 105/277 L/X cTT/c rs1380176864 1 -1 C5orf60 HGNC HGNC:27753 protein_coding YES ENSP00000493173 A6NFR6 UPI00004191D3 NM_001305388.1,NM_001142306.2 3/6 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF23 HIGH 1 deletion 1 PASS TCAAG . . 179643455 C5orf60 . GRCh38 chr5 179643460 179643461 + Frame_Shift_Ins INS - - GG rs1412986680 7316-304 BS_ATYBFKWJ - - c.310_311insCC p.Asn104ThrfsTer14 p.N104Tfs*14 ENST00000625191 3/6 76 59 11 16 16 0 C5orf60,frameshift_variant,p.Asn104ThrfsTer14,ENST00000625191,NM_001305388.1,NM_001142306.2;C5orf60,non_coding_transcript_exon_variant,,ENST00000506142,;C5orf60,frameshift_variant,p.Asn104ThrfsTer14,ENST00000512899,;C5orf60,3_prime_UTR_variant,,ENST00000513845,;C5orf60,non_coding_transcript_exon_variant,,ENST00000514664,;C5orf60,non_coding_transcript_exon_variant,,ENST00000511063,;C5orf60,downstream_gene_variant,,ENST00000503358,;C5orf60,downstream_gene_variant,,ENST00000513142,; GG ENSG00000204661 ENST00000625191 Transcript frameshift_variant 336-337/1208 310-311/834 104/277 N/TX aac/aCCac rs1412986680 1 -1 C5orf60 HGNC HGNC:27753 protein_coding YES ENSP00000493173 A6NFR6 UPI00004191D3 NM_001305388.1,NM_001142306.2 3/6 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF23 HIGH 1 insertion 1 PASS GTT . . 179643460 HLA-DQA1 . GRCh38 chr6 32642029 32642029 + Missense_Mutation SNP C C T rs707952 7316-304 BS_ATYBFKWJ C C c.389C>T p.Thr130Ile p.T130I ENST00000343139 3/5 59 45 14 15 15 0 HLA-DQA1,missense_variant,p.Thr130Ile,ENST00000343139,NM_002122.3;HLA-DQA1,missense_variant,p.Thr130Ile,ENST00000395363,;HLA-DQA1,missense_variant,p.Thr130Ile,ENST00000374949,;HLA-DQA1,missense_variant,p.Thr130Ile,ENST00000496318,;HLA-DQA1,downstream_gene_variant,,ENST00000422863,;HLA-DQA1,3_prime_UTR_variant,,ENST00000482745,;HLA-DQA1,non_coding_transcript_exon_variant,,ENST00000460633,; T ENSG00000196735 ENST00000343139 Transcript missense_variant 491/1591 389/768 130/255 T/I aCc/aTc rs707952 1 1 HLA-DQA1 HGNC HGNC:4942 protein_coding YES CCDS4752.1 ENSP00000339398 P01909 A0A173ADG5 UPI0000140E19 NM_002122.3 tolerated(0.81) benign(0.02) 3/5 Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF54,SMART_domains:SM00407,Superfamily_domains:SSF48726,cd05767 0.1871 0.2209 0.2392 0.12 0.2286 0.1309 0.225 0.2473 MODERATE 1 SNV 1 PASS ACC . . 0.2379 0.209 0.2561 0.3032 0.1765 0.1629 0.2499 0.2383 0.2574 32642029 SEC63 . GRCh38 chr6 107921916 107921918 + Splice_Region DEL AAA AAA - rs565045172 7316-304 BS_ATYBFKWJ AAA AAA c.340-9_340-7del ENST00000369002 69 53 9 24 22 0 SEC63,splice_region_variant,,ENST00000369002,NM_007214.4;SEC63,splice_region_variant,,ENST00000429168,;SEC63,splice_region_variant,,ENST00000484803,;SEC63,downstream_gene_variant,,ENST00000446496,; - ENSG00000025796 ENST00000369002 Transcript splice_region_variant,intron_variant rs565045172 1 -1 SEC63 HGNC HGNC:21082 protein_coding YES CCDS5061.1 ENSP00000357998 Q9UGP8 A0A0S2Z5M1 UPI000000DBBB NM_007214.4 3/20 0.1220 0.0756 0.1643 0.1091 0.1362 0.1534 benign LOW 1 deletion 1 1 1 PASS GGAAAA . . 107921915 CCDC170 . GRCh38 chr6 151573205 151573205 + Missense_Mutation SNP C C T rs12205837 7316-304 BS_ATYBFKWJ C C c.806C>T p.Ala269Val p.A269V ENST00000239374 6/11 69 32 36 68 62 6 CCDC170,missense_variant,p.Ala269Val,ENST00000239374,NM_025059.3; T ENSG00000120262 ENST00000239374 Transcript missense_variant 905/5293 806/2148 269/715 A/V gCt/gTt rs12205837 1 1 CCDC170 HGNC HGNC:21177 protein_coding YES CCDS43515.1 ENSP00000239374 Q8IYT3 UPI000020D0BA NM_025059.3 tolerated(0.07) benign(0.015) 6/11 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18863:SF4,hmmpanther:PTHR18863,Gene3D:1.20.5.340 0.0767 0.0787 0.0865 0.0704 0.0795 0.0706 0.07253 0.1078 MODERATE 1 SNV 1 PASS GCT . . 0.09181 0.07895 0.09219 0.09527 0.05298 0.07262 0.1075 0.1004 0.07382 151573205 GTF2I . GRCh38 chr7 74690975 74690975 + Nonsense_Mutation SNP T T A novel 7316-304 BS_ATYBFKWJ T T c.102T>A p.Cys34Ter p.C34* ENST00000573035 3/35 86 81 5 24 24 0 GTF2I,stop_gained,p.Cys34Ter,ENST00000573035,NM_032999.3;GTF2I,stop_gained,p.Cys34Ter,ENST00000614986,NM_033000.3;GTF2I,stop_gained,p.Cys34Ter,ENST00000621734,NM_001163636.2,NM_033001.3;GTF2I,stop_gained,p.Cys34Ter,ENST00000620879,NM_001518.4;GTF2I,stop_gained,p.Cys34Ter,ENST00000443166,NM_001280800.1;GTF2I,stop_gained,p.Cys34Ter,ENST00000432143,;AC211433.1,intron_variant,,ENST00000450426,;GTF2I,splice_region_variant,,ENST00000613513,; A ENSG00000263001 ENST00000573035 Transcript stop_gained,splice_region_variant 491/4548 102/2997 34/998 C/* tgT/tgA 1 1 GTF2I HGNC HGNC:4659 protein_coding YES CCDS5573.1 ENSP00000460070 P78347 X5DR09 UPI0000001233 NM_032999.3 3/35 PIRSF_domain:PIRSF016441,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF138 HIGH 1 SNV 1 1 PASS GTA . . 74690975 OR9A4 . GRCh38 chr7 141919504 141919504 + Missense_Mutation SNP C C A 7316-304 BS_ATYBFKWJ C C c.629C>A p.Ser210Tyr p.S210Y ENST00000641559 2/2 152 116 34 14 14 0 OR9A4,missense_variant,p.Ser210Tyr,ENST00000641559,;OR9A4,missense_variant,p.Ser210Tyr,ENST00000548136,NM_001001656.1;MGAM,intron_variant,,ENST00000465654,;MGAM,intron_variant,,ENST00000497554,; A ENSG00000258083 ENST00000641559 Transcript missense_variant 897/2018 629/945 210/314 S/Y tCt/tAt COSM5406696,COSM1448672 1 1 OR9A4 HGNC HGNC:15095 protein_coding YES CCDS43661.1 ENSP00000493151 Q8NGU2 A0A126GVB1 UPI0000041D24 deleterious(0) probably_damaging(0.987) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF216,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15912 1,1 MODERATE 1 SNV 1,1 PASS TCT . . 141919504 TRBV7-4 . GRCh38 chr7 142455559 142455559 + Missense_Mutation SNP A A G rs1173337964 7316-304 BS_ATYBFKWJ A A c.271A>G p.Arg91Gly p.R91G ENST00000390369 2/2 139 120 18 24 24 0 TRBV7-4,missense_variant,p.Arg91Gly,ENST00000390369,;TRBV6-5,downstream_gene_variant,,ENST00000390368,;,regulatory_region_variant,,ENSR00000219246,; G ENSG00000253409 ENST00000390369 Transcript missense_variant 271/347 271/347 91/115 R/G Aga/Gga rs1173337964 1 1 TRBV7-4 HGNC HGNC:12238 TR_V_gene YES ENSP00000374892 A0A1B0GX95 UPI00053BD5AB tolerated(1) benign(0) 2/2 MODERATE 1 SNV PASS GAG . . 142455559 EN2 . GRCh38 chr7 155458738 155458738 + Missense_Mutation SNP C C T rs3735653 7316-304 BS_ATYBFKWJ C C c.361C>T p.Leu121Phe p.L121F ENST00000297375 1/2 116 35 79 16 12 2 EN2,missense_variant,p.Leu121Phe,ENST00000297375,NM_001427.3;AC008060.3,upstream_gene_variant,,ENST00000419225,; T ENSG00000164778 ENST00000297375 Transcript missense_variant 610/3395 361/1002 121/333 L/F Ctc/Ttc rs3735653,COSM3762526 1 1 EN2 HGNC HGNC:3343 protein_coding YES CCDS5940.1 ENSP00000297375 P19622 UPI000012CA05 NM_001427.3 tolerated(0.2) benign(0.06) 1/2 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:1.10.10.60,hmmpanther:PTHR24341:SF5,hmmpanther:PTHR24341 0.4097 0.1452 0.3934 0.627 0.505 0.4571 0,1 26322220,16252243,19270442,15024396,20050924 MODERATE 1 SNV 1 0,1 PASS GCT . . 0.5408 0.3056 0.4684 0.625 0.7329 0.5 0.5391 0.4889 0.5205 155458738 CSMD1 . GRCh38 chr8 2998059 2998059 + Missense_Mutation SNP G G T novel 7316-304 BS_ATYBFKWJ G G c.8329C>A p.Gln2777Lys p.Q2777K ENST00000635120 54/70 60 54 6 27 27 0 CSMD1,missense_variant,p.Gln2639Lys,ENST00000537824,;CSMD1,missense_variant,p.Gln2195Lys,ENST00000335551,;CSMD1,missense_variant,p.Gln2778Lys,ENST00000520002,;CSMD1,missense_variant,p.Gln2778Lys,ENST00000602557,;CSMD1,missense_variant,p.Gln2777Lys,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Gln2720Lys,ENST00000400186,;CSMD1,missense_variant,p.Gln2720Lys,ENST00000602723,;CSMD1,downstream_gene_variant,,ENST00000519623,; T ENSG00000183117 ENST00000635120 Transcript missense_variant 8885/11737 8329/10695 2777/3564 Q/K Cag/Aag 1 -1 CSMD1 HGNC HGNC:14026 protein_coding YES CCDS55189.1 ENSP00000489225 Q96PZ7 UPI0001B723C6 NM_033225.5 deleterious(0.03) possibly_damaging(0.754) 54/70 Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535,cd00033 MODERATE 1 SNV 5 PASS TGG . . 2998059 EPPK1 . GRCh38 chr8 143860035 143860035 + Missense_Mutation SNP C T T novel 7316-304 BS_ATYBFKWJ C C c.13219G>A p.Val4407Ile p.V4407I ENST00000615648 2/2 60 17 42 13 13 0 EPPK1,missense_variant,p.Val4407Ile,ENST00000615648,NM_031308.3;EPPK1,missense_variant,p.Val4382Ile,ENST00000568225,;,regulatory_region_variant,,ENSR00000333972,; T ENSG00000261150 ENST00000615648 Transcript missense_variant 13291/16002 13219/15267 4407/5088 V/I Gtc/Atc 1 -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107 UPI0002065B93 NM_031308.3 tolerated(1) benign(0.205) 2/2 Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2,SMART_domains:SM00250,Superfamily_domains:SSF75399 MODERATE 1 SNV 5 PASS ACG . . 143860035 RECQL4 . GRCh38 chr8 144513211 144513211 + Splice_Region SNP T T G rs767159855 7316-304 BS_ATYBFKWJ T T c.2463+7A>C ENST00000617875 130 54 30 27 15 0 RECQL4,splice_region_variant,,ENST00000617875,NM_004260.3;RECQL4,splice_region_variant,,ENST00000621189,;RECQL4,intron_variant,,ENST00000534626,;LRRC14,upstream_gene_variant,,ENST00000292524,NM_014665.3;MFSD3,downstream_gene_variant,,ENST00000301327,NM_138431.2;RECQL4,downstream_gene_variant,,ENST00000524998,;LRRC14,upstream_gene_variant,,ENST00000527730,;LRRC14,upstream_gene_variant,,ENST00000529022,NM_001272036.1;RECQL4,upstream_gene_variant,,ENST00000531875,;RECQL4,downstream_gene_variant,,ENST00000532846,;AC084125.4,intron_variant,,ENST00000580385,;RECQL4,upstream_gene_variant,,ENST00000529424,;RECQL4,upstream_gene_variant,,ENST00000301323,;MFSD3,downstream_gene_variant,,ENST00000526749,;MFSD3,downstream_gene_variant,,ENST00000528047,;RECQL4,downstream_gene_variant,,ENST00000534270,;MFSD3,downstream_gene_variant,,ENST00000534427,;RECQL4,downstream_gene_variant,,ENST00000534538,;,regulatory_region_variant,,ENSR00000232261,; G ENSG00000160957 ENST00000617875 Transcript splice_region_variant,intron_variant rs767159855,COSM5759645 1 -1 RECQL4 HGNC HGNC:9949 protein_coding YES CCDS75804.1 ENSP00000482313 O94761 UPI0000E5E124 NM_004260.3 14/20 likely_benign 0,1 LOW 1 SNV 1 1,1 1 PASS GTG . . 0.006712 0.0191 0.006469 0.007187 0.0109 0.007391 0.005699 0.006494 0.00244 144513211 GLIS3 . GRCh38 chr9 3937027 3937027 + Splice_Site SNP C C T 7316-304 BS_ATYBFKWJ C C c.1872+1G>A p.X624_splice ENST00000381971 66 32 32 26 26 0 GLIS3,splice_donor_variant,,ENST00000324333,NM_152629.3;GLIS3,splice_donor_variant,,ENST00000381971,NM_001042413.1;GLIS3,splice_donor_variant,,ENST00000461870,;GLIS3,splice_donor_variant,,ENST00000464391,;GLIS3,splice_donor_variant,,ENST00000645252,;GLIS3,downstream_gene_variant,,ENST00000469833,;GLIS3,splice_donor_variant,,ENST00000463680,;GLIS3,splice_donor_variant,,ENST00000467497,;,regulatory_region_variant,,ENSR00000232665,; T ENSG00000107249 ENST00000381971 Transcript splice_donor_variant COSM1253315,COSM1253316 1 -1 GLIS3 HGNC HGNC:28510 protein_coding YES CCDS43784.1 ENSP00000371398 Q8NEA6 UPI0000DA4C5E NM_001042413.1 5/10 1,1 HIGH 1 SNV 5 1,1 1 PASS ACG . . 3937027 FAM27C . GRCh38 chr9 61854380 61854380 + Splice_Region SNP A A G rs1484610343 7316-304 BS_ATYBFKWJ A A n.215+4A>G ENST00000377542 49 32 11 20 17 0 FAM27C,splice_region_variant,,ENST00000377542,;,regulatory_region_variant,,ENSR00000335460,;AL391987.6,upstream_gene_variant,,ENST00000305671,; G ENSG00000154537 ENST00000377542 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1484610343 1 1 FAM27C HGNC HGNC:23668 lincRNA YES 1/1 LOW 1 SNV 1 PASS GAG . . 61854380 MTPAP . GRCh38 chr10 30313938 30313940 + In_Frame_Del DEL GAG GAG - novel 7316-304 BS_ATYBFKWJ GAG GAG c.1418_1420del p.Pro473del p.P473del ENST00000263063 9/9 72 31 38 30 30 0 MTPAP,inframe_deletion,p.Pro473del,ENST00000263063,NM_018109.3;MTPAP,non_coding_transcript_exon_variant,,ENST00000488290,; - ENSG00000107951 ENST00000263063 Transcript inframe_deletion 1462-1464/5601 1418-1420/1749 473-474/582 PL/L cCTCtg/ctg 1 -1 MTPAP HGNC HGNC:25532 protein_coding YES CCDS7165.1 ENSP00000263063 Q9NVV4 UPI0000070081 NM_018109.3 9/9 Gene3D:1.10.1410.10,Pfam_domain:PF03828,hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF33,Superfamily_domains:SSF81631 MODERATE 1 deletion 1 1 PASS CAGAGG . . 30313937 ARHGAP12 . GRCh38 chr10 31910524 31910525 + Splice_Region INS - - GG rs1214476468 7316-304 BS_ATYBFKWJ - - c.-72_-72+1insCC ENST00000344936 84 70 10 26 25 0 ARHGAP12,splice_region_variant,,ENST00000396144,NM_001270695.1;ARHGAP12,splice_region_variant,,ENST00000375245,NM_001270697.1;ARHGAP12,splice_region_variant,,ENST00000375250,NM_001270698.1,NM_001270696.1;ARHGAP12,splice_region_variant,,ENST00000344936,NM_018287.6;ARHGAP12,upstream_gene_variant,,ENST00000311380,NM_001270699.1;HMGB1P7,upstream_gene_variant,,ENST00000450921,; GG ENSG00000165322 ENST00000344936 Transcript splice_region_variant,5_prime_UTR_variant 164-165/4128 rs1214476468 1 -1 ARHGAP12 HGNC HGNC:16348 protein_coding YES CCDS7170.1 ENSP00000345808 Q8IWW6 UPI000007445E NM_018287.6 LOW 1 insertion 1 PASS ACC . . 31910524 ARHGAP12 . GRCh38 chr10 31910526 31910528 + Splice_Region DEL TTA TTA - rs1245412213 7316-304 BS_ATYBFKWJ TTA TTA c.-75_-73del ENST00000344936 2/20 84 71 10 26 25 0 ARHGAP12,splice_region_variant,,ENST00000396144,NM_001270695.1;ARHGAP12,splice_region_variant,,ENST00000375245,NM_001270697.1;ARHGAP12,splice_region_variant,,ENST00000375250,NM_001270698.1,NM_001270696.1;ARHGAP12,splice_region_variant,,ENST00000344936,NM_018287.6;ARHGAP12,upstream_gene_variant,,ENST00000311380,NM_001270699.1;HMGB1P7,upstream_gene_variant,,ENST00000450921,; - ENSG00000165322 ENST00000344936 Transcript splice_region_variant,5_prime_UTR_variant 161-163/4128 rs1245412213 1 -1 ARHGAP12 HGNC HGNC:16348 protein_coding YES CCDS7170.1 ENSP00000345808 Q8IWW6 UPI000007445E NM_018287.6 2/20 LOW 1 deletion 1 PASS CCTTAG . . 31910525 C10orf71 . GRCh38 chr10 49326554 49326554 + Missense_Mutation SNP G A A rs10857472 7316-304 BS_ATYBFKWJ G G c.4009G>A p.Gly1337Ser p.G1337S ENST00000374144 3/3 34 1 32 20 16 3 C10orf71,missense_variant,p.Gly1337Ser,ENST00000374144,NM_001135196.1; A ENSG00000177354 ENST00000374144 Transcript missense_variant 4297/5230 4009/4308 1337/1435 G/S Ggc/Agc rs10857472,COSM3751835 1 1 C10orf71 HGNC HGNC:26973 protein_coding YES CCDS44387.1 ENSP00000363259 Q711Q0 UPI0000161572 NM_001135196.1 tolerated(0.18) possibly_damaging(0.511) 3/3 Pfam_domain:PF15232,hmmpanther:PTHR33775,hmmpanther:PTHR33775:SF2 0.3297 0.2194 0.3818 0.1925 0.4354 0.4744 0.2184 0.4488 0,1 28379579 MODERATE 1 SNV 1 0,1 PASS CGG . . 0.3957 0.2376 0.3649 0.4828 0.1921 0.3303 0.4511 0.4211 0.4477 49326554 ANK3 . GRCh38 chr10 60196628 60196629 + Splice_Region INS - - A rs772920191 7316-304 BS_ATYBFKWJ - - c.1690-4dup ENST00000280772 33 19 6 28 25 0 ANK3,splice_region_variant,,ENST00000280772,NM_001320874.1,NM_020987.4;ANK3,splice_region_variant,,ENST00000373827,NM_001204403.1;ANK3,splice_region_variant,,ENST00000503366,NM_001204404.1;ANK3,splice_region_variant,,ENST00000622427,; A ENSG00000151150 ENST00000280772 Transcript splice_region_variant,intron_variant rs772920191 1 -1 ANK3 HGNC HGNC:494 protein_coding YES CCDS7258.1 ENSP00000280772 Q12955 UPI0000141BA9 NM_001320874.1,NM_020987.4 14/43 benign 25741868 LOW 1 insertion 1 1 PASS TGA . . 0.3105 0.2723 0.349 0.3292 0.3122 0.2513 0.2982 0.3266 0.3689 60196628 TACC2 . GRCh38 chr10 122211207 122211207 + Missense_Mutation SNP T A A rs2295876 7316-304 BS_ATYBFKWJ T T c.6782T>A p.Leu2261His p.L2261H ENST00000369005 9/23 33 1 32 20 17 1 TACC2,missense_variant,p.Leu2261His,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Leu2261His,ENST00000334433,;TACC2,missense_variant,p.Leu2265His,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Leu2265His,ENST00000453444,;TACC2,missense_variant,p.Leu2216His,ENST00000515603,NM_001291876.1;TACC2,missense_variant,p.Leu407His,ENST00000513429,NM_206861.2;TACC2,missense_variant,p.Leu339His,ENST00000360561,NM_206860.2;TACC2,missense_variant,p.Leu339His,ENST00000368999,;TACC2,missense_variant,p.Leu407His,ENST00000358010,;TACC2,missense_variant,p.Leu339His,ENST00000369004,NM_001291878.1;TACC2,missense_variant,p.Leu339His,ENST00000260733,NM_006997.3;TACC2,missense_variant,p.Leu356His,ENST00000514539,;TACC2,5_prime_UTR_variant,,ENST00000369000,;TACC2,5_prime_UTR_variant,,ENST00000369001,NM_001291879.1;TACC2,intron_variant,,ENST00000505639,;TACC2,upstream_gene_variant,,ENST00000496913,;TACC2,upstream_gene_variant,,ENST00000508411,;TACC2,downstream_gene_variant,,ENST00000492237,;TACC2,downstream_gene_variant,,ENST00000493951,;TACC2,missense_variant,p.Leu108His,ENST00000440764,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,; A ENSG00000138162 ENST00000369005 Transcript missense_variant 7122/9673 6782/8847 2261/2948 L/H cTc/cAc rs2295876,COSM4989662,COSM4989661,COSM4989660,COSM4989659,COSM4174813,COSM4174812 1 1 TACC2 HGNC HGNC:11523 protein_coding YES CCDS7626.1 ENSP00000358001 O95359 UPI0000246F6B NM_206862.3 deleterious(0.02) probably_damaging(0.988) 9/23 mobidb-lite,hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11 0.0891 0.0045 0.1311 0.1151 0.0835 0.1524 0.02655 0.1241 0,1,1,1,1,1,1 16385451 MODERATE 1 SNV 1 0,1,1,1,1,1,1 PASS CTC . . 0.1206 0.02347 0.1408 0.09096 0.1274 0.1142 0.1209 0.1236 0.1558 122211207 FRG2B . GRCh38 chr10 133625456 133625456 + Frame_Shift_Del DEL C C - rs745873123 7316-304 BS_ATYBFKWJ C C c.480del p.Arg160SerfsTer5 p.R160Sfs*5 ENST00000425520 4/4 89 75 11 26 25 0 FRG2B,frameshift_variant,p.Arg161SerfsTer5,ENST00000443774,;FRG2B,frameshift_variant,p.Arg160SerfsTer5,ENST00000425520,NM_001080998.1;,regulatory_region_variant,,ENSR00000262296,; - ENSG00000225899 ENST00000425520 Transcript frameshift_variant 533/890 480/837 160/278 R/X agG/ag rs745873123,COSM4589995 1 -1 FRG2B HGNC HGNC:33518 protein_coding YES CCDS44502.1 ENSP00000401310 Q96QU4 UPI00000727C6 NM_001080998.1 4/4 Pfam_domain:PF15315,Prints_domain:PR02074,hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF4 0,1 HIGH 1 deletion 1 0,1 PASS GACC . . 4.094e-06 3.338e-05 133625455 DNHD1 . GRCh38 chr11 6533172 6533172 + Missense_Mutation SNP G C C rs747988608 7316-304 BS_ATYBFKWJ G G c.2493G>C p.Gln831His p.Q831H ENST00000254579 13/43 30 0 30 17 17 0 DNHD1,missense_variant,p.Gln831His,ENST00000254579,NM_144666.2;DNHD1,missense_variant,p.Gln831His,ENST00000527990,;DNHD1,non_coding_transcript_exon_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000532027,; C ENSG00000179532 ENST00000254579 Transcript missense_variant 3057/14862 2493/14262 831/4753 Q/H caG/caC rs747988608 1 1 DNHD1 HGNC HGNC:26532 protein_coding YES CCDS44532.1 ENSP00000254579 Q96M86 UPI0001929529 NM_144666.2 tolerated(0.08) benign(0.275) 13/43 Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF244 MODERATE 1 SNV 5 PASS AGT . . 1.347e-05 3.517e-05 6533172 DCDC1 . GRCh38 chr11 30878717 30878718 + Splice_Region DEL AA AA - rs747428338 7316-304 BS_ATYBFKWJ AA AA c.2546-7_2546-6del ENST00000406071 38 3 22 21 17 0 DCDC1,splice_region_variant,,ENST00000406071,NM_020869.3;DCDC1,splice_region_variant,,ENST00000597505,;DCDC1,splice_region_variant,,ENST00000303697,;DCDC1,splice_region_variant,,ENST00000444572,;DCDC1,splice_region_variant,,ENST00000483396,; - ENSG00000170959 ENST00000406071 Transcript splice_region_variant,intron_variant rs747428338 1 -1 DCDC1 HGNC HGNC:20625 protein_coding YES CCDS73270.1 ENSP00000385936 B6ZDN3 UPI0001FB41A5 NM_020869.3 18/19 LOW 1 deletion 5 PASS TTAAA . . 0.1432 0.1053 0.1111 0.2075 0.0766 0.103 0.1606 0.1412 0.1785 30878716 F2 . GRCh38 chr11 46723453 46723453 + Missense_Mutation SNP C T T rs5896 7316-304 BS_ATYBFKWJ C C c.494C>T p.Thr165Met p.T165M ENST00000311907 6/14 33 0 33 17 13 4 F2,missense_variant,p.Thr165Met,ENST00000311907,NM_001311257.1,NM_000506.4;F2,missense_variant,p.Thr165Met,ENST00000530231,;F2,missense_variant,p.Thr155Met,ENST00000442468,;F2,non_coding_transcript_exon_variant,,ENST00000490274,;F2,downstream_gene_variant,,ENST00000469189,; T ENSG00000180210 ENST00000311907 Transcript missense_variant 550/2023 494/1869 165/622 T/M aCg/aTg rs5896,CM043760,COSM147180 1 1 F2 HGNC HGNC:3535 protein_coding YES CCDS31476.1 ENSP00000308541 P00734 UPI0000136ECD NM_001311257.1,NM_000506.4 tolerated(0.1) benign(0.08) 6/14 Gene3D:2.40.20.10,PDB-ENSP_mappings:4hzh.A,PDB-ENSP_mappings:4hzh.B,PDB-ENSP_mappings:4nzq.A,PDB-ENSP_mappings:4o03.A,PDB-ENSP_mappings:5edk.A,PDB-ENSP_mappings:5edm.A,Pfam_domain:PF00051,PIRSF_domain:PIRSF001149,Prints_domain:PR00018,PROSITE_patterns:PS00021,PROSITE_profiles:PS50070,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF10,SMART_domains:SM00130,Superfamily_domains:SSF57440,cd00108 0.2192 0.0053 0.281 0.6002 0.1213 0.1728 0.0343 0.1276 benign,likely_benign 0,0,1 25741868,23238918,20617897,16255080,19737746,17048007,18305455,18596683,21320153,23029076,24162564,17626638 MODERATE 1 SNV 1 1,1,1 1 PASS ACG . . 0.2111 0.02752 0.4034 0.07604 0.6049 0.2421 0.1286 0.1623 0.201 46723453 TESC . GRCh38 chr12 117099228 117099228 + Missense_Mutation SNP C C G novel 7316-304 BS_ATYBFKWJ C C c.55G>C p.Gly19Arg p.G19R ENST00000335209 1/8 58 26 32 25 25 0 TESC,missense_variant,p.Gly19Arg,ENST00000335209,NM_017899.3;TESC,missense_variant,p.Gly19Arg,ENST00000541210,NM_001168325.1;TESC-AS1,upstream_gene_variant,,ENST00000547006,;TESC,upstream_gene_variant,,ENST00000552139,;TESC,missense_variant,p.Gly19Arg,ENST00000470612,;TESC,missense_variant,p.Gly19Arg,ENST00000462502,;TESC,non_coding_transcript_exon_variant,,ENST00000482176,;,regulatory_region_variant,,ENSR00000058096,; G ENSG00000088992 ENST00000335209 Transcript missense_variant 242/1041 55/645 19/214 G/R Ggc/Cgc 1 -1 TESC HGNC HGNC:26065 protein_coding YES CCDS9183.3 ENSP00000334785 Q96BS2 UPI0000136BF7 NM_017899.3 deleterious(0) benign(0.187) 1/8 mobidb-lite,hmmpanther:PTHR23056:SF2,hmmpanther:PTHR23056,Gene3D:1.10.238.10,Superfamily_domains:SSF47473 MODERATE 1 SNV 1 PASS CCG . . 117099228 TPTE2 . GRCh38 chr13 19492871 19492871 + Missense_Mutation SNP A A C rs76437836 7316-304 BS_ATYBFKWJ A A c.98T>G p.Leu33Arg p.L33R ENST00000400230 3/20 84 73 11 19 19 0 TPTE2,missense_variant,p.Leu33Arg,ENST00000400230,NM_199254.2;TPTE2,missense_variant,p.Leu33Arg,ENST00000382978,;TPTE2,missense_variant,p.Leu33Arg,ENST00000400103,NM_001141968.1;TPTE2,missense_variant,p.Leu33Arg,ENST00000255310,;TPTE2,missense_variant,p.Leu33Arg,ENST00000390680,NM_130785.3;TPTE2,missense_variant,p.Leu33Arg,ENST00000462409,; C ENSG00000132958 ENST00000400230 Transcript missense_variant 143/1793 98/1569 33/522 L/R cTg/cGg rs76437836,COSM248834,COSM1717710 1 -1 TPTE2 HGNC HGNC:17299 protein_coding YES CCDS45014.1 ENSP00000383089 Q6XPS3 UPI000040738D NM_199254.2 tolerated_low_confidence(0.5) benign(0) 3/20 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CAG . . 0.01229 0.03441 0.02756 0.0122 0.02815 0.01382 0.003151 0.01166 0.01548 19492871 HNRNPA1P30 . GRCh38 chr13 20948971 20948972 + Splice_Region INS - - TTC rs201460408 7316-304 BS_ATYBFKWJ - - n.326-7_326-6insGAA ENST00000440699 58 45 8 15 14 0 HNRNPA1P30,intron_variant,,ENST00000424329,;HNRNPA1P30,splice_region_variant,,ENST00000440699,; TTC ENSG00000233780 ENST00000440699 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs201460408 1 -1 HNRNPA1P30 HGNC HGNC:39548 transcribed_processed_pseudogene YES 1/1 LOW 1 insertion PASS CTT . . 20948971 BCL11B . GRCh38 chr14 99175207 99175209 + In_Frame_Del DEL CTC CTC - rs776243488 7316-304 BS_ATYBFKWJ CTC CTC c.1627_1629del p.Glu543del p.E543del ENST00000357195 4/4 51 44 5 17 16 0 BCL11B,inframe_deletion,p.Glu472del,ENST00000345514,NM_001282238.1,NM_022898.2;BCL11B,inframe_deletion,p.Glu543del,ENST00000357195,NM_001282237.1,NM_138576.3;BCL11B,inframe_deletion,p.Glu349del,ENST00000443726,;,regulatory_region_variant,,ENSR00000072909,; - ENSG00000127152 ENST00000357195 Transcript inframe_deletion 1637-1639/7559 1627-1629/2685 543/894 E/- GAG/- rs776243488,COSM1290348 1 -1 BCL11B HGNC HGNC:13222 protein_coding YES CCDS9950.1 ENSP00000349723 Q9C0K0 L8B7P7 UPI000006E083 NM_001282237.1,NM_138576.3 4/4 hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45,mobidb-lite,Low_complexity_(Seg):seg 0.06863 0.07464 0,1 MODERATE 1 deletion 1 0,1 1 PASS AGCTCC . . 0.07079 0.08714 0.07332 0.06654 0.09545 0.0441 0.06764 0.07332 0.07825 99175206 IGHV4-61 . GRCh38 chr14 106639333 106639333 + Missense_Mutation SNP C C T rs2072046 7316-304 BS_ATYBFKWJ C C c.142G>A p.Val48Ile p.V48I ENST00000390630 2/2 84 72 11 25 25 0 IGHV4-61,missense_variant,p.Val48Ile,ENST00000390630,;RNA5SP389,downstream_gene_variant,,ENST00000362610,;,regulatory_region_variant,,ENSR00000073899,;,regulatory_region_variant,,ENSR00000276414,;IGHVII-60-1,upstream_gene_variant,,ENST00000519079,;IGHV3-62,downstream_gene_variant,,ENST00000520057,; T ENSG00000211970 ENST00000390630 Transcript missense_variant 243/457 142/356 48/118 V/I Gtc/Atc rs2072046 1 -1 IGHV4-61 HGNC HGNC:5655 IG_V_gene YES ENSP00000375039 A0A0C4DH41 UPI000011B546 tolerated_low_confidence(1) benign(0) 2/2 28492228 MODERATE 1 SNV PASS ACG . . 0.2921 0.6998 0.2119 0.3559 0.274 0.208 0.2096 0.26 0.5578 106639333 IGHV4-61 . GRCh38 chr14 106639372 106639372 + Missense_Mutation SNP C C G rs201453364 7316-304 BS_ATYBFKWJ C C c.103G>C p.Glu35Gln p.E35Q ENST00000390630 2/2 85 71 12 28 28 0 IGHV4-61,missense_variant,p.Glu35Gln,ENST00000390630,;RNA5SP389,downstream_gene_variant,,ENST00000362610,;,regulatory_region_variant,,ENSR00000073899,;,regulatory_region_variant,,ENSR00000276414,;IGHVII-60-1,upstream_gene_variant,,ENST00000519079,;IGHV3-62,downstream_gene_variant,,ENST00000520057,; G ENSG00000211970 ENST00000390630 Transcript missense_variant 204/457 103/356 35/118 E/Q Gag/Cag rs201453364 1 -1 IGHV4-61 HGNC HGNC:5655 IG_V_gene YES ENSP00000375039 A0A0C4DH41 UPI000011B546 tolerated_low_confidence(1) benign(0.111) 2/2 0.2294 0.5061 0.1066 0.1399 0.0984 0.1697 28492228 MODERATE 1 SNV PASS TCC . . 0.04175 0.2573 0.03191 0.03158 0.06148 0.03792 0.01629 0.03612 0.09361 106639372 FBN1 . GRCh38 chr15 48420736 48420736 + Nonsense_Mutation SNP G G T novel 7316-304 BS_ATYBFKWJ G G c.7770C>A p.Cys2590Ter p.C2590* ENST00000316623 63/66 58 37 19 21 21 0 FBN1,stop_gained,p.Cys2590Ter,ENST00000316623,NM_000138.4;FBN1,upstream_gene_variant,,ENST00000561429,;FBN1,3_prime_UTR_variant,,ENST00000559133,; T ENSG00000166147 ENST00000316623 Transcript stop_gained 8226/11756 7770/8616 2590/2871 C/* tgC/tgA 1 -1 FBN1 HGNC HGNC:3603 protein_coding YES CCDS32232.1 ENSP00000325527 P35555 UPI0000EE4EBC NM_000138.4 63/66 PROSITE_profiles:PS50026,cd00054,hmmpanther:PTHR24039:SF22,hmmpanther:PTHR24039,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184 HIGH 1 SNV 1 1 PASS TGC . . 48420736 GOLGA6L9 . GRCh38 chr15 82436294 82436294 + Frame_Shift_Del DEL C C - novel 7316-304 BS_ATYBFKWJ C C c.1184del p.Pro395GlnfsTer3 p.P395Qfs*3 ENST00000618348 9/9 73 61 8 13 13 0 GOLGA6L9,frameshift_variant,p.Pro395GlnfsTer3,ENST00000618348,NM_001291420.1,NM_198181.3;AC243919.1,downstream_gene_variant,,ENST00000613086,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000618706,;GOLGA6L9,downstream_gene_variant,,ENST00000558668,;,regulatory_region_variant,,ENSR00000080207,;,regulatory_region_variant,,ENSR00000278669,; - ENSG00000197978 ENST00000618348 Transcript frameshift_variant 1242/1710 1182/1299 394/432 H/X caC/ca 1 1 GOLGA6L9 HGNC HGNC:37229 protein_coding YES CCDS45326.1 ENSP00000481078 A6NEM1 UPI000442D01A NM_001291420.1,NM_198181.3 9/9 hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF19,mobidb-lite HIGH 1 deletion 5 2 PASS CACC . . 82436293 TMC7 . GRCh38 chr16 19059642 19059642 + Missense_Mutation SNP C C T rs531463899 7316-304 BS_ATYBFKWJ C C c.2254C>T p.Arg752Cys p.R752C ENST00000569532 15/15 83 69 14 14 14 0 TMC7,missense_variant,p.Arg752Cys,ENST00000569532,NM_001300732.1;TMC7,intron_variant,,ENST00000304381,NM_024847.4,NM_001324265.1;TMC7,intron_variant,,ENST00000421369,NM_001160364.2,NM_001324263.1,NM_001324268.1;AC099518.4,downstream_gene_variant,,ENST00000567047,;AC099518.4,downstream_gene_variant,,ENST00000568971,;AC099518.4,downstream_gene_variant,,ENST00000571934,;AC099518.4,downstream_gene_variant,,ENST00000576433,; T ENSG00000170537 ENST00000569532 Transcript missense_variant 2384/2738 2254/2277 752/758 R/C Cgt/Tgt rs531463899 1 1 TMC7 HGNC HGNC:23000 protein_coding YES CCDS73837.1 ENSP00000455041 H3BNW8 UPI0001EE466D NM_001300732.1 benign(0.135) 15/15 0.0002 0.0008 MODERATE 1 SNV 2 PASS GCG . . 6.91e-05 0.0008801 8.137e-05 8.381e-05 19059642 IL27 . GRCh38 chr16 28499855 28499857 + In_Frame_Del DEL CTC CTC - rs768642941 7316-304 BS_ATYBFKWJ CTC CTC c.526_528del p.Glu176del p.E176del ENST00000356897 5/5 72 58 5 16 14 0 IL27,inframe_deletion,p.Glu176del,ENST00000356897,NM_145659.3;APOBR,downstream_gene_variant,,ENST00000431282,;APOBR,downstream_gene_variant,,ENST00000564831,NM_018690.3;IL27,downstream_gene_variant,,ENST00000568075,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000636355,;CLN3,upstream_gene_variant,,ENST00000637110,;CLN3,upstream_gene_variant,,ENST00000637686,; - ENSG00000197272 ENST00000356897 Transcript inframe_deletion 549-551/1044 526-528/732 176/243 E/- GAG/- rs768642941,TMP_ESP_16_28511176_28511181,COSM5850609 1 -1 IL27 HGNC HGNC:19157 protein_coding YES CCDS10633.1 ENSP00000349365 Q8NEV9 UPI0000141330 NM_145659.3 5/5 Gene3D:1.20.1250.10,hmmpanther:PTHR20879,Low_complexity_(Seg):seg 0.02853 0.0246 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS CTCTCC . . 0.001323 0.003291 0.001366 0.001112 0.0007426 0.00135 0.001481 0.00114 0.0005286 28499854 AP1G1 . GRCh38 chr16 71746696 71746696 + Splice_Region SNP T C C rs2270831 7316-304 BS_ATYBFKWJ T T c.1635-4A>G ENST00000393512 49 1 48 22 17 5 AP1G1,splice_region_variant,,ENST00000299980,NM_001128.5;AP1G1,splice_region_variant,,ENST00000393512,NM_001030007.1;AP1G1,splice_region_variant,,ENST00000569748,;AP1G1,5_prime_UTR_variant,,ENST00000564155,;AP1G1,downstream_gene_variant,,ENST00000562934,;AP1G1,splice_region_variant,,ENST00000565009,;AP1G1,splice_region_variant,,ENST00000565642,;AP1G1,downstream_gene_variant,,ENST00000566179,;AP1G1,downstream_gene_variant,,ENST00000568327,; C ENSG00000166747 ENST00000393512 Transcript splice_region_variant,intron_variant rs2270831 1 -1 AP1G1 HGNC HGNC:555 protein_coding YES CCDS45522.1 ENSP00000377148 O43747 A0A140VJE7 UPI000016A4AD NM_001030007.1 17/23 0.4227 0.2655 0.5259 0.7609 0.3241 0.3149 0.2805 0.3395 LOW 1 SNV 5 PASS ATA . . 0.4012 0.2755 0.5797 0.3486 0.7588 0.3711 0.3367 0.374 0.3458 71746696 PIEZO1 . GRCh38 chr16 88716692 88716692 + Missense_Mutation SNP T C C rs1803382 7316-304 BS_ATYBFKWJ T T c.6793A>G p.Ile2265Val p.I2265V ENST00000301015 47/51 35 2 33 28 25 3 PIEZO1,missense_variant,p.Ile2265Val,ENST00000301015,NM_001142864.3;PIEZO1,missense_variant,p.Ile133Val,ENST00000327397,;CTU2,downstream_gene_variant,,ENST00000312060,NM_001012762.2;CTU2,downstream_gene_variant,,ENST00000453996,NM_001012759.2,NM_001318513.1;PIEZO1,downstream_gene_variant,,ENST00000466823,;PIEZO1,upstream_gene_variant,,ENST00000518793,;CTU2,downstream_gene_variant,,ENST00000564921,;CTU2,downstream_gene_variant,,ENST00000567316,;CTU2,downstream_gene_variant,,ENST00000567949,NM_001318507.1;MIR4722,upstream_gene_variant,,ENST00000578292,;AC138028.4,upstream_gene_variant,,ENST00000564984,;PIEZO1,3_prime_UTR_variant,,ENST00000419505,;PIEZO1,non_coding_transcript_exon_variant,,ENST00000484567,;PIEZO1,non_coding_transcript_exon_variant,,ENST00000472168,;PIEZO1,downstream_gene_variant,,ENST00000495568,;PIEZO1,downstream_gene_variant,,ENST00000497793,;PIEZO1,upstream_gene_variant,,ENST00000521877,;CTU2,downstream_gene_variant,,ENST00000562011,;CTU2,downstream_gene_variant,,ENST00000564105,;CTU2,downstream_gene_variant,,ENST00000564584,;CTU2,downstream_gene_variant,,ENST00000566637,; C ENSG00000103335 ENST00000301015 Transcript missense_variant 7049/8089 6793/7566 2265/2521 I/V Atc/Gtc rs1803382,COSM3755210,COSM3755209 1 -1 PIEZO1 HGNC HGNC:28993 protein_coding YES CCDS54058.1 ENSP00000301015 Q92508 UPI0001B300F3 NM_001142864.3 tolerated(0.07) possibly_damaging(0.578) 47/51 hmmpanther:PTHR13167:SF40,hmmpanther:PTHR13167,Pfam_domain:PF12166 0.1983 0.1029 0.1902 0.0913 0.326 0.3119 0.1344 0.3238 benign 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS ATG . . 0.2639 0.1417 0.1484 0.3285 0.08125 0.2709 0.3285 0.2755 0.3172 88716692 DNAH9 . GRCh38 chr17 11875160 11875160 + Missense_Mutation SNP G G A rs61749487 7316-304 BS_ATYBFKWJ G G c.10454G>A p.Arg3485Gln p.R3485Q ENST00000262442 53/69 67 60 6 21 21 0 DNAH9,missense_variant,p.Arg3485Gln,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Arg3485Gln,ENST00000454412,;DNAH9,missense_variant,p.Arg236Gln,ENST00000579703,;AC005209.1,intron_variant,,ENST00000579621,;DNAH9,non_coding_transcript_exon_variant,,ENST00000580255,; A ENSG00000007174 ENST00000262442 Transcript missense_variant 10522/13750 10454/13461 3485/4486 R/Q cGg/cAg rs61749487 1 1 DNAH9 HGNC HGNC:2953 protein_coding YES CCDS11160.1 ENSP00000262442 Q9NYC9 UPI0000141BA2 NM_001372.3 tolerated(0.19) benign(0.015) 53/69 Gene3D:3.40.50.300,Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257 MODERATE 1 SNV 1 PASS CGG . . 9.442e-05 8.942e-05 0.001045 1.831e-05 11875160 DNAH9 . GRCh38 chr17 11929859 11929859 + Splice_Region SNP C C T novel 7316-304 BS_ATYBFKWJ C C c.11878-7C>T ENST00000262442 84 37 45 14 14 0 DNAH9,splice_region_variant,,ENST00000262442,NM_001372.3;DNAH9,splice_region_variant,,ENST00000608377,NM_004662.2;DNAH9,intron_variant,,ENST00000454412,;DNAH9,splice_region_variant,,ENST00000396001,;DNAH9,downstream_gene_variant,,ENST00000581682,; T ENSG00000007174 ENST00000262442 Transcript splice_region_variant,intron_variant 1 1 DNAH9 HGNC HGNC:2953 protein_coding YES CCDS11160.1 ENSP00000262442 Q9NYC9 UPI0000141BA2 NM_001372.3 62/68 LOW 1 SNV 1 PASS CCC . . 11929859 EVPLL . GRCh38 chr17 18383043 18383043 + Missense_Mutation SNP G G A rs1239288883 7316-304 BS_ATYBFKWJ G G c.530G>A p.Arg177Gln p.R177Q ENST00000399134 7/11 76 44 31 21 21 0 EVPLL,missense_variant,p.Arg177Gln,ENST00000399134,NM_001145127.1;AL353997.2,non_coding_transcript_exon_variant,,ENST00000579352,;EVPLL,upstream_gene_variant,,ENST00000583003,;,regulatory_region_variant,,ENSR00000092080,; A ENSG00000214860 ENST00000399134 Transcript missense_variant 888/2095 530/906 177/301 R/Q cGg/cAg rs1239288883 1 1 EVPLL HGNC HGNC:35236 protein_coding YES CCDS45626.1 ENSP00000382086 A8MZ36 UPI00001C1FE2 NM_001145127.1 tolerated(0.22) benign(0.022) 7/11 MODERATE 1 SNV 1 PASS CGG . . 6.004e-06 3.975e-05 18383043 LRRC45 . GRCh38 chr17 82030602 82030603 + Splice_Region INS - - TT novel 7316-304 BS_ATYBFKWJ - - c.1817-7_1817-6insTT ENST00000306688 57 45 10 13 12 0 LRRC45,splice_region_variant,,ENST00000306688,NM_144999.3;RAC3,upstream_gene_variant,,ENST00000306897,NM_001316307.1,NM_005052.2;DCXR,downstream_gene_variant,,ENST00000577532,;RAC3,upstream_gene_variant,,ENST00000580965,;RAC3,upstream_gene_variant,,ENST00000584341,;AC137723.2,downstream_gene_variant,,ENST00000623540,;LRRC45,splice_region_variant,,ENST00000581227,;LRRC45,downstream_gene_variant,,ENST00000582083,;LRRC45,downstream_gene_variant,,ENST00000583302,;RAC3,upstream_gene_variant,,ENST00000585014,;,regulatory_region_variant,,ENSR00000099522,; TT ENSG00000169683 ENST00000306688 Transcript splice_region_variant,intron_variant 1 1 LRRC45 HGNC HGNC:28302 protein_coding YES CCDS11797.1 ENSP00000306760 Q96CN5 UPI000006EF33 NM_144999.3 16/16 LOW 1 insertion 1 PASS CCC . . 82030602 LRRC45 . GRCh38 chr17 82030613 82030613 + Frame_Shift_Del DEL G G - rs1221204683 7316-304 BS_ATYBFKWJ G G c.1822del p.Ala608ArgfsTer56 p.A608Rfs*56 ENST00000306688 17/17 56 42 11 13 12 0 LRRC45,frameshift_variant,p.Ala608ArgfsTer56,ENST00000306688,NM_144999.3;RAC3,upstream_gene_variant,,ENST00000306897,NM_001316307.1,NM_005052.2;DCXR,downstream_gene_variant,,ENST00000577532,;RAC3,upstream_gene_variant,,ENST00000580965,;RAC3,upstream_gene_variant,,ENST00000584341,;AC137723.2,downstream_gene_variant,,ENST00000623540,;LRRC45,3_prime_UTR_variant,,ENST00000581227,;LRRC45,downstream_gene_variant,,ENST00000582083,;LRRC45,downstream_gene_variant,,ENST00000583302,;RAC3,upstream_gene_variant,,ENST00000585014,;,regulatory_region_variant,,ENSR00000099522,; - ENSG00000169683 ENST00000306688 Transcript frameshift_variant 2163/2701 1821/2013 607/670 M/X atG/at rs1221204683 1 1 LRRC45 HGNC HGNC:28302 protein_coding YES CCDS11797.1 ENSP00000306760 Q96CN5 UPI000006EF33 NM_144999.3 17/17 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF3 HIGH 1 deletion 1 1 PASS ATGG . . 2.195e-05 4.769e-05 82030612 LRRC45 . GRCh38 chr17 82030617 82030617 + Frame_Shift_Del DEL A A - rs1408558924 7316-304 BS_ATYBFKWJ A A c.1825del p.Ser609AlafsTer55 p.S609Afs*55 ENST00000306688 17/17 57 42 11 13 12 0 LRRC45,frameshift_variant,p.Ser609AlafsTer55,ENST00000306688,NM_144999.3;RAC3,upstream_gene_variant,,ENST00000306897,NM_001316307.1,NM_005052.2;DCXR,downstream_gene_variant,,ENST00000577532,;RAC3,upstream_gene_variant,,ENST00000580965,;RAC3,upstream_gene_variant,,ENST00000584341,;AC137723.2,downstream_gene_variant,,ENST00000623540,;LRRC45,3_prime_UTR_variant,,ENST00000581227,;LRRC45,downstream_gene_variant,,ENST00000582083,;LRRC45,downstream_gene_variant,,ENST00000583302,;RAC3,upstream_gene_variant,,ENST00000585014,;,regulatory_region_variant,,ENSR00000099522,; - ENSG00000169683 ENST00000306688 Transcript frameshift_variant 2167/2701 1825/2013 609/670 S/X Agc/gc rs1408558924,COSM6388521 1 1 LRRC45 HGNC HGNC:28302 protein_coding YES CCDS11797.1 ENSP00000306760 Q96CN5 UPI000006EF33 NM_144999.3 17/17 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF3 0,1 HIGH 1 deletion 1 0,1 PASS CGAG . . 82030616 GPS1 . GRCh38 chr17 82055184 82055184 + Missense_Mutation SNP A A G novel 7316-304 BS_ATYBFKWJ A A c.830A>G p.Gln277Arg p.Q277R ENST00000392358 6/13 101 35 65 14 14 0 GPS1,missense_variant,p.Gln277Arg,ENST00000392358,NM_212492.2;GPS1,missense_variant,p.Gln221Arg,ENST00000320548,NM_001321093.1;GPS1,missense_variant,p.Gln276Arg,ENST00000623761,;GPS1,missense_variant,p.Gln237Arg,ENST00000578552,NM_001321090.1,NM_001321092.1;GPS1,missense_variant,p.Gln241Arg,ENST00000306823,NM_004127.5,NM_001321089.1;GPS1,missense_variant,p.Gln236Arg,ENST00000623691,NM_001321091.1;GPS1,missense_variant,p.Gln240Arg,ENST00000624957,;DUS1L,downstream_gene_variant,,ENST00000306796,NM_022156.4;RFNG,upstream_gene_variant,,ENST00000310496,NM_002917.1;DUS1L,downstream_gene_variant,,ENST00000354321,;RFNG,upstream_gene_variant,,ENST00000429557,;DUS1L,downstream_gene_variant,,ENST00000538833,;DUS1L,downstream_gene_variant,,ENST00000542088,;DUS1L,downstream_gene_variant,,ENST00000577574,;GPS1,upstream_gene_variant,,ENST00000578168,;RFNG,upstream_gene_variant,,ENST00000578356,;GPS1,downstream_gene_variant,,ENST00000580716,;GPS1,downstream_gene_variant,,ENST00000581418,;GPS1,downstream_gene_variant,,ENST00000581578,;GPS1,downstream_gene_variant,,ENST00000582327,;GPS1,downstream_gene_variant,,ENST00000583009,;GPS1,downstream_gene_variant,,ENST00000583641,;GPS1,downstream_gene_variant,,ENST00000583885,;GPS1,downstream_gene_variant,,ENST00000583961,;GPS1,downstream_gene_variant,,ENST00000585084,;RFNG,upstream_gene_variant,,ENST00000580928,;GPS1,downstream_gene_variant,,ENST00000583983,;GPS1,downstream_gene_variant,,ENST00000584229,;RFNG,upstream_gene_variant,,ENST00000584838,;GPS1,3_prime_UTR_variant,,ENST00000584460,;GPS1,3_prime_UTR_variant,,ENST00000580141,;GPS1,non_coding_transcript_exon_variant,,ENST00000392357,;GPS1,non_coding_transcript_exon_variant,,ENST00000578279,;GPS1,downstream_gene_variant,,ENST00000578392,;DUS1L,downstream_gene_variant,,ENST00000578428,;GPS1,downstream_gene_variant,,ENST00000578642,;RFNG,upstream_gene_variant,,ENST00000578676,;DUS1L,downstream_gene_variant,,ENST00000578846,;DUS1L,downstream_gene_variant,,ENST00000579854,;GPS1,downstream_gene_variant,,ENST00000580627,;GPS1,downstream_gene_variant,,ENST00000580723,;DUS1L,downstream_gene_variant,,ENST00000580731,;RFNG,upstream_gene_variant,,ENST00000580793,;RFNG,upstream_gene_variant,,ENST00000580953,;DUS1L,downstream_gene_variant,,ENST00000582407,;RFNG,upstream_gene_variant,,ENST00000582478,;GPS1,upstream_gene_variant,,ENST00000583486,;RFNG,upstream_gene_variant,,ENST00000583784,;RFNG,upstream_gene_variant,,ENST00000584463,;RFNG,upstream_gene_variant,,ENST00000584515,;DUS1L,downstream_gene_variant,,ENST00000584871,; G ENSG00000169727 ENST00000392358 Transcript missense_variant 1179/2276 830/1584 277/527 Q/R cAg/cGg 1 1 GPS1 HGNC HGNC:4549 protein_coding YES CCDS11800.1 ENSP00000376167 Q13098 UPI0000231C2E NM_212492.2 tolerated(0.43) benign(0.268) 6/13 hmmpanther:PTHR14145,hmmpanther:PTHR14145:SF2,Gene3D:1.25.40.10,Pfam_domain:PF10602 MODERATE 1 SNV 1 PASS CAG . . 82055184 TXNDC2 . GRCh38 chr18 9887432 9887432 + Missense_Mutation SNP C C T rs2240908 7316-304 BS_ATYBFKWJ C C c.953C>T p.Pro318Leu p.P318L ENST00000306084 2/2 58 37 19 14 9 0 TXNDC2,missense_variant,p.Pro251Leu,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Pro318Leu,ENST00000306084,NM_001098529.1;TXNDC2,splice_region_variant,,ENST00000611534,;TXNDC2,3_prime_UTR_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; T ENSG00000168454 ENST00000306084 Transcript missense_variant 1152/1873 953/1662 318/553 P/L cCa/cTa rs2240908,COSM4000485,COSM4000484 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(0.1) benign(0.012) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107,hmmpanther:PTHR10438:SF107 0.2476 0.3434 0.1787 0.1488 0.2952 0.2198 0.1948 0.1948 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCA . . 0.004367 0.002637 0.003292 0.01619 0.002389 0.00278 0.004524 0.007585 0.005206 9887432 LILRA2 . GRCh38 chr19 54574088 54574088 + Missense_Mutation SNP G G A rs1298989801 7316-304 BS_ATYBFKWJ G G c.47G>A p.Gly16Asp p.G16D ENST00000251377 3/9 78 64 12 17 17 0 LILRA2,missense_variant,p.Gly16Asp,ENST00000251376,NM_001290271.1,NM_006866.3;LILRA2,missense_variant,p.Gly16Asp,ENST00000251377,;LILRA2,missense_variant,p.Gly16Asp,ENST00000391738,NM_001130917.2;LILRA2,missense_variant,p.Gly16Asp,ENST00000439534,;LILRA2,missense_variant,p.Gly16Asp,ENST00000629481,;LILRA2,intron_variant,,ENST00000391737,NM_001290270.1;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000111531,; A ENSG00000239998 ENST00000251377 Transcript missense_variant 180/1799 47/1452 16/483 G/D gGc/gAc rs1298989801,COSM418040 1 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000251377 Q8N149 UPI00034F238E tolerated(0.21) benign(0.065) 3/9 PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Cleavage_site_(Signalp):SignalP-noTM 0,1 MODERATE 1 SNV 5 0,1 PASS GGC . . 4.061e-06 3.249e-05 54574088 STK35 . GRCh38 chr20 2101885 2101885 + Missense_Mutation SNP G G T novel 7316-304 BS_ATYBFKWJ G G c.4G>T p.Gly2Cys p.G2C ENST00000381482 1/4 70 36 32 30 30 0 STK35,missense_variant,p.Gly2Cys,ENST00000381482,NM_080836.3;STK35,upstream_gene_variant,,ENST00000493263,;,regulatory_region_variant,,ENSR00000133633,; T ENSG00000125834 ENST00000381482 Transcript missense_variant 275/6685 4/1605 2/534 G/C Ggc/Tgc 1 1 STK35 HGNC HGNC:16254 protein_coding YES CCDS13024.2 ENSP00000370891 Q8TDR2 UPI00003FCD67 NM_080836.3 deleterious_low_confidence(0) probably_damaging(0.999) 1/4 hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF59 MODERATE 1 SNV 5 PASS GGG . . 2101885 FRG1CP . GRCh38 chr20 28588757 28588757 + Splice_Region SNP T T G rs1230488920 7316-304 BS_ATYBFKWJ T T n.311A>C ENST00000358464 5/9 98 85 11 28 28 0 FRG1CP,splice_region_variant,,ENST00000358464,; G ENSG00000282826 ENST00000358464 Transcript splice_region_variant,non_coding_transcript_exon_variant 311/769 rs1230488920 1 -1 FRG1CP HGNC HGNC:51762 unprocessed_pseudogene YES 5/9 LOW 1 SNV PASS TTC . . 28588757 ANKRD20A21P . GRCh38 chr20 30702854 30702854 + Splice_Site SNP C C T rs1235426019 7316-304 BS_ATYBFKWJ C C n.825-1G>A ENST00000623715 120 105 14 28 28 0 ANKRD20A21P,splice_acceptor_variant,,ENST00000623715,; T ENSG00000277112 ENST00000623715 Transcript splice_acceptor_variant,non_coding_transcript_variant rs1235426019 1 -1 ANKRD20A21P HGNC HGNC:52329 transcribed_unprocessed_pseudogene 7/21 HIGH 1 SNV PASS GCT . . 30702854 SMTN . GRCh38 chr22 31093811 31093811 + Missense_Mutation SNP G G A novel 7316-304 BS_ATYBFKWJ G G c.1822G>A p.Ala608Thr p.A608T ENST00000619644 12/21 79 48 31 20 20 0 SMTN,missense_variant,p.Ala608Thr,ENST00000619644,NM_001207017.1;SMTN,missense_variant,p.Ala122Thr,ENST00000404574,;SMTN,intron_variant,,ENST00000333137,NM_134269.2;SMTN,intron_variant,,ENST00000347557,NM_006932.4;SMTN,intron_variant,,ENST00000358743,NM_134270.2;SMTN,intron_variant,,ENST00000455608,;SMTN,intron_variant,,ENST00000612341,NM_001207018.1;SMTN,downstream_gene_variant,,ENST00000416786,;SMTN,downstream_gene_variant,,ENST00000431481,;SMTN,downstream_gene_variant,,ENST00000438223,;SMTN,upstream_gene_variant,,ENST00000624247,;SMTN,non_coding_transcript_exon_variant,,ENST00000493335,;SMTN,intron_variant,,ENST00000460658,;SMTN,intron_variant,,ENST00000489337,;SMTN,downstream_gene_variant,,ENST00000466272,; A ENSG00000183963 ENST00000619644 Transcript missense_variant 1883/3227 1822/3009 608/1002 A/T Gcc/Acc 1 1 SMTN HGNC HGNC:11126 protein_coding YES CCDS74845.1 ENSP00000484398 A0A087X1R1 UPI00020D8FA0 NM_001207017.1 deleterious(0.04) possibly_damaging(0.819) 12/21 hmmpanther:PTHR45105,mobidb-lite MODERATE 1 SNV 2 PASS GGC . . 31093811 Z83844.3 . GRCh38 chr22 37665806 37665806 + Missense_Mutation SNP C C T novel 7316-304 BS_ATYBFKWJ C C c.1753C>T p.His585Tyr p.H585Y ENST00000451997 17/17 72 40 31 20 19 0 Z83844.3,missense_variant,p.His585Tyr,ENST00000451997,;PDXP,missense_variant,p.His276Tyr,ENST00000215904,NM_020315.4;PDXP,missense_variant,p.His59Tyr,ENST00000403251,;RN7SL385P,downstream_gene_variant,,ENST00000468873,; T ENSG00000285304 ENST00000451997 Transcript missense_variant 1997/3123 1753/1818 585/605 H/Y Cac/Tac 1 1 Z83844.3 Clone_based_ensembl_gene protein_coding YES ENSP00000401076 F8WEQ3 UPI00001C0D38 deleterious_low_confidence(0.01) possibly_damaging(0.846) 17/17 Gene3D:3.40.50.1000,Pfam_domain:PF13242,Superfamily_domains:SSF56784 MODERATE SNV 2 PASS GCA . . 37665806 CDK11A . GRCh38 chr1 1708951 1708951 + Splice_Region SNP C C T rs555887612 7316-2155 BS_VZ4NGF34 C C c.855G>A p.Ala285= p.A285= ENST00000378633 9/20 40 31 8 22 21 0 CDK11A,splice_region_variant,p.Ala248=,ENST00000356200,;CDK11A,splice_region_variant,p.Ala285=,ENST00000378633,NM_001313896.1;CDK11A,splice_region_variant,p.Ala282=,ENST00000404249,NM_024011.3;CDK11A,splice_region_variant,p.Ala281=,ENST00000357760,NM_001313982.1;CDK11A,splice_region_variant,p.Ala248=,ENST00000378638,;CDK11A,splice_region_variant,p.Ala272=,ENST00000358779,NM_033529.3;AL031282.2,splice_region_variant,,ENST00000598846,;CDK11A,upstream_gene_variant,,ENST00000495016,;CDK11A,splice_region_variant,p.Ala282=,ENST00000460465,;CDK11A,splice_region_variant,p.Ala295=,ENST00000509982,;CDK11A,splice_region_variant,,ENST00000356937,;CDK11A,upstream_gene_variant,,ENST00000463652,;CDK11A,upstream_gene_variant,,ENST00000464748,;CDK11A,upstream_gene_variant,,ENST00000468397,;CDK11A,upstream_gene_variant,,ENST00000468800,;CDK11A,upstream_gene_variant,,ENST00000474916,;CDK11A,upstream_gene_variant,,ENST00000478901,;CDK11A,upstream_gene_variant,,ENST00000489300,;CDK11A,upstream_gene_variant,,ENST00000491311,;CDK11A,upstream_gene_variant,,ENST00000492390,; T ENSG00000008128 ENST00000378633 Transcript splice_region_variant,synonymous_variant 935/2458 855/2352 285/783 A gcG/gcA rs555887612,COSM5427750 1 -1 CDK11A HGNC HGNC:1730 protein_coding YES CCDS81253.1 ENSP00000367900 Q9UQ88 UPI00003664B8 NM_001313896.1 9/20 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF332 0.0883 0.3154 0.0144 0.005 0.0102 0,1 LOW 1 SNV 1 0,1 PASS CCG . . 0.05988 0.3047 0.0531 0.01536 0.009268 0.003289 0.01647 0.0315 0.03208 1708951 CASZ1 . GRCh38 chr1 10639916 10639916 + Missense_Mutation SNP G G C novel 7316-2155 BS_VZ4NGF34 G G c.4306C>G p.Arg1436Gly p.R1436G ENST00000377022 21/21 71 39 28 41 41 0 CASZ1,missense_variant,p.Arg1436Gly,ENST00000377022,NM_001079843.2;CASZ1,downstream_gene_variant,,ENST00000447850,;AL139423.1,non_coding_transcript_exon_variant,,ENST00000606802,;CASZ1,upstream_gene_variant,,ENST00000478524,;,regulatory_region_variant,,ENSR00000001309,; C ENSG00000130940 ENST00000377022 Transcript missense_variant 4624/7936 4306/5280 1436/1759 R/G Cgc/Ggc 1 -1 CASZ1 HGNC HGNC:26002 protein_coding YES CCDS41246.1 ENSP00000366221 Q86V15 UPI0000EBB7D6 NM_001079843.2 deleterious(0) probably_damaging(0.993) 21/21 Gene3D:2.160.10.10,hmmpanther:PTHR12451 MODERATE 1 SNV 1 PASS CGC . . 10639916 FLG2 . GRCh38 chr1 152356254 152356254 + Missense_Mutation SNP A A C rs867983947 7316-2155 BS_VZ4NGF34 A A c.1532T>G p.Val511Gly p.V511G ENST00000388718 3/3 97 85 9 40 39 0 FLG2,missense_variant,p.Val511Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 1605/9124 1532/7176 511/2391 V/G gTc/gGc rs867983947,COSM5956632 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.59) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GAC . . 152356254 CEP350 . GRCh38 chr1 179992187 179992187 + Missense_Mutation SNP C C A novel 7316-2155 BS_VZ4NGF34 C C c.361C>A p.Arg121Ser p.R121S ENST00000367607 5/38 85 37 48 49 48 1 CEP350,missense_variant,p.Arg121Ser,ENST00000367607,NM_014810.4;CEP350,missense_variant,p.Arg95Ser,ENST00000491495,;CEP350,missense_variant,p.Arg120Ser,ENST00000357434,; A ENSG00000135837 ENST00000367607 Transcript missense_variant 779/13491 361/9354 121/3117 R/S Cgt/Agt 1 1 CEP350 HGNC HGNC:24238 protein_coding YES CCDS1336.1 ENSP00000356579 Q5VT06 UPI000013CFC5 NM_014810.4 tolerated(0.32) benign(0.017) 5/38 hmmpanther:PTHR13958,hmmpanther:PTHR13958:SF4 MODERATE 1 SNV 1 PASS TCG . . 179992187 ERC2 . GRCh38 chr3 56296392 56296392 + Missense_Mutation SNP G G C novel 7316-2155 BS_VZ4NGF34 G G c.701C>G p.Thr234Ser p.T234S ENST00000288221 3/18 81 34 45 37 37 0 ERC2,missense_variant,p.Thr234Ser,ENST00000288221,NM_015576.2;ERC2,missense_variant,p.Thr234Ser,ENST00000612797,;ERC2,missense_variant,p.Thr234Ser,ENST00000460849,; C ENSG00000187672 ENST00000288221 Transcript missense_variant 957/6138 701/2874 234/957 T/S aCc/aGc 1 -1 ERC2 HGNC HGNC:31922 protein_coding YES CCDS46851.1 ENSP00000288221 O15083 UPI00001C1572 NM_015576.2 tolerated(0.42) probably_damaging(0.973) 3/18 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18861:SF3,hmmpanther:PTHR18861,Pfam_domain:PF10174 MODERATE 1 SNV 1 PASS GGT . . 56296392 ZNF639 . GRCh38 chr3 179334358 179334358 + Missense_Mutation SNP G G A novel 7316-2155 BS_VZ4NGF34 G G c.1394G>A p.Cys465Tyr p.C465Y ENST00000326361 7/7 95 46 48 33 33 0 ZNF639,missense_variant,p.Cys465Tyr,ENST00000326361,NM_016331.2;ZNF639,missense_variant,p.Cys465Tyr,ENST00000496856,NM_001303426.1,NM_001303425.1;ZNF639,missense_variant,p.Cys465Tyr,ENST00000484866,;ZNF639,missense_variant,p.Cys465Tyr,ENST00000621687,;ZNF639,downstream_gene_variant,,ENST00000466264,;ZNF639,downstream_gene_variant,,ENST00000481587,;ZNF639,downstream_gene_variant,,ENST00000491818,;ZNF639,downstream_gene_variant,,ENST00000494234,;ZNF639,downstream_gene_variant,,ENST00000466663,;ZNF639,downstream_gene_variant,,ENST00000483460,; A ENSG00000121864 ENST00000326361 Transcript missense_variant 1839/6064 1394/1458 465/485 C/Y tGc/tAc 1 1 ZNF639 HGNC HGNC:30950 protein_coding YES CCDS3227.1 ENSP00000325634 Q9UID6 UPI000003EA4C NM_016331.2 deleterious(0) probably_damaging(0.99) 7/7 PROSITE_profiles:PS50157,hmmpanther:PTHR24404:SF35,hmmpanther:PTHR24404,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355 MODERATE 1 SNV 1 PASS TGC . . 179334358 MUC4 . GRCh38 chr3 195788467 195788467 + Missense_Mutation SNP A A G rs13060286 7316-2155 BS_VZ4NGF34 A A c.3113T>C p.Val1038Ala p.V1038A ENST00000463781 2/25 70 51 11 23 22 0 MUC4,missense_variant,p.Val1038Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Val1038Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Val1038Ala,ENST00000478156,;MUC4,missense_variant,p.Val1038Ala,ENST00000466475,;MUC4,missense_variant,p.Val1038Ala,ENST00000477756,;MUC4,missense_variant,p.Val1038Ala,ENST00000477086,;MUC4,missense_variant,p.Val1038Ala,ENST00000480843,;MUC4,missense_variant,p.Val1038Ala,ENST00000462323,;MUC4,missense_variant,p.Val1038Ala,ENST00000470451,;MUC4,missense_variant,p.Val1038Ala,ENST00000479406,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 3573/17110 3113/16239 1038/5412 V/A gTc/gCc rs13060286,COSM4157919 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.74) benign(0.021) 2/25 mobidb-lite,hmmpanther:PTHR42668,hmmpanther:PTHR42668 0.2308 0.1157 0.2219 0.3562 0.2604 0.2331 0,1 MODERATE 1 SNV 5 0,1 1 PASS GAC . . 0.003392 0.00921 0.003962 0.008183 0.00187 0.0004281 0.003969 0.003438 0.0004026 195788467 PPP2CA . GRCh38 chr5 134199140 134199140 + Missense_Mutation SNP C C T 7316-2155 BS_VZ4NGF34 C C c.803G>A p.Arg268His p.R268H ENST00000481195 6/7 87 45 40 37 36 0 PPP2CA,missense_variant,p.Arg268His,ENST00000481195,NM_002715.2;AC104109.3,intron_variant,,ENST00000519718,;PPP2CA,downstream_gene_variant,,ENST00000522385,;PPP2CA,downstream_gene_variant,,ENST00000523082,;PPP2CA,downstream_gene_variant,,ENST00000231504,;PPP2CA,non_coding_transcript_exon_variant,,ENST00000472253,;PPP2CA,downstream_gene_variant,,ENST00000495833,; T ENSG00000113575 ENST00000481195 Transcript missense_variant 1084/4649 803/930 268/309 R/H cGt/cAt COSM1060848 1 -1 PPP2CA HGNC HGNC:9299 protein_coding YES CCDS4173.1 ENSP00000418447 P67775 B3KUN1 UPI0000000C15 NM_002715.2 tolerated(0.05) possibly_damaging(0.609) 6/7 cd07415,hmmpanther:PTHR11668:SF318,hmmpanther:PTHR11668,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300,Prints_domain:PR00114 1 MODERATE 1 SNV 1 1 PASS ACG . . 134199140 HNRNPA0 . GRCh38 chr5 137753240 137753242 + In_Frame_Del DEL CCG CCG - rs766907230 7316-2155 BS_VZ4NGF34 CCG CCG c.825_827del p.Gly278del p.G278del ENST00000314940 1/1 78 66 6 45 42 0 HNRNPA0,inframe_deletion,p.Gly278del,ENST00000314940,NM_006805.3;,regulatory_region_variant,,ENSR00000187427,; - ENSG00000177733 ENST00000314940 Transcript inframe_deletion 1135-1137/8726 825-827/918 275-276/305 GG/G ggCGGt/ggt rs766907230,COSM6458374 1 -1 HNRNPA0 HGNC HGNC:5030 protein_coding YES CCDS4193.1 ENSP00000316042 Q13151 UPI0000000C1D NM_006805.3 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45071 0.008475 0.01194 0,1 MODERATE 1 deletion 0,1 PASS CACCGC . . 0.0003575 0.0001579 6.214e-05 0.0001099 6.109e-05 0.00151 0.0004101 0.0001686 137753239 RP1L1 . GRCh38 chr8 10608521 10608521 + Missense_Mutation SNP A A C rs527932965 7316-2155 BS_VZ4NGF34 A A c.5577T>G p.Asp1859Glu p.D1859E ENST00000382483 4/4 74 52 12 38 36 1 RP1L1,missense_variant,p.Asp1859Glu,ENST00000382483,NM_178857.5; C ENSG00000183638 ENST00000382483 Transcript missense_variant 5801/7973 5577/7203 1859/2400 D/E gaT/gaG rs527932965,COSM748980 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated(1) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 0.0046 0.0014 0.004 0.001 0.0174 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAT . . 10608521 SPATA31D1 . GRCh38 chr9 81991242 81991242 + Missense_Mutation SNP T T C rs200253689 7316-2155 BS_VZ4NGF34 T T c.772T>C p.Ser258Pro p.S258P ENST00000344803 4/4 80 59 20 37 35 1 SPATA31D1,missense_variant,p.Ser258Pro,ENST00000344803,NM_001001670.2;AL162726.3,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,; C ENSG00000214929 ENST00000344803 Transcript missense_variant 819/4833 772/4731 258/1576 S/P Tcc/Ccc rs200253689 1 1 SPATA31D1 HGNC HGNC:37283 protein_coding YES CCDS47986.1 ENSP00000341988 Q6ZQQ2 UPI00001C10A6 NM_001001670.2 tolerated(1) benign(0) 4/4 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF12 MODERATE 1 SNV 2 PASS GTC . . 0.001539 0.0216 0.001646 0.0001743 0.0001841 0.0002283 0.0005622 0.0004598 81991242 LDB3 . GRCh38 chr10 86716374 86716374 + Missense_Mutation SNP A A C novel 7316-2155 BS_VZ4NGF34 A A c.1294A>C p.Thr432Pro p.T432P ENST00000429277 10/14 45 30 8 21 19 0 LDB3,missense_variant,p.Thr432Pro,ENST00000429277,NM_001171610.1;LDB3,missense_variant,p.Thr427Pro,ENST00000361373,NM_007078.2;LDB3,missense_variant,p.Thr317Pro,ENST00000263066,NM_001080114.1;LDB3,missense_variant,p.Thr432Pro,ENST00000623056,;LDB3,upstream_gene_variant,,ENST00000477489,; C ENSG00000122367 ENST00000429277 Transcript missense_variant 1439/5436 1294/2199 432/732 T/P Act/Cct 1 1 LDB3 HGNC HGNC:15710 protein_coding YES CCDS53550.1 ENSP00000401437 O75112 UPI00017A876A NM_001171610.1 deleterious(0.03) benign(0.065) 10/14 hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF9,Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS CAC . . 86716374 KRTAP5-8 . GRCh38 chr11 71538425 71538425 + Missense_Mutation SNP A A T rs112605265 7316-2155 BS_VZ4NGF34 A A c.370A>T p.Ser124Cys p.S124C ENST00000398534 1/1 82 63 8 35 33 0 KRTAP5-8,missense_variant,p.Ser124Cys,ENST00000398534,NM_021046.2;,regulatory_region_variant,,ENSR00000041593,; T ENSG00000241233 ENST00000398534 Transcript missense_variant 401/1183 370/564 124/187 S/C Agc/Tgc rs112605265,COSM229781 1 1 KRTAP5-8 HGNC HGNC:23603 protein_coding YES CCDS41683.1 ENSP00000420723 O75690 UPI000013ECDA NM_021046.2 tolerated_low_confidence(1) benign(0) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF131,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 0,1 PASS CAG . . 4.306e-06 3.398e-05 71538425 CAPN5 . GRCh38 chr11 77121942 77121942 + Missense_Mutation SNP G G A rs140490506 7316-2155 BS_VZ4NGF34 G G c.1496G>A p.Arg499His p.R499H ENST00000278559 11/13 81 44 31 44 43 0 CAPN5,missense_variant,p.Arg499His,ENST00000278559,NM_004055.4;CAPN5,missense_variant,p.Arg539His,ENST00000456580,;CAPN5,missense_variant,p.Arg499His,ENST00000529629,;CAPN5,intron_variant,,ENST00000531028,;CAPN5,non_coding_transcript_exon_variant,,ENST00000527129,; A ENSG00000149260 ENST00000278559 Transcript missense_variant 1685/4397 1496/1923 499/640 R/H cGc/cAc rs140490506,COSM932123 1 1 CAPN5 HGNC HGNC:1482 protein_coding YES CCDS8248.1 ENSP00000278559 O15484 A0A140VKH4 UPI0000126E9F NM_004055.4 tolerated(0.48) benign(0.361) 11/13 Gene3D:2.60.40.150,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF370 0.0001177 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGC . . 4.679e-05 0.000212 3.429e-05 77121942 SETD1B . GRCh38 chr12 121804752 121804752 + Frame_Shift_Del DEL C C - 7316-2155 BS_VZ4NGF34 C C c.22del p.His8ThrfsTer27 p.H8Tfs*27 ENST00000604567 2/17 63 55 5 29 29 0 SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000542440,NM_015048.1;SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000604567,;SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000619791,;SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000267197,;RHOF,upstream_gene_variant,,ENST00000541657,;RHOF,upstream_gene_variant,,ENST00000546227,;LINC01089,upstream_gene_variant,,ENST00000428029,;LINC01089,upstream_gene_variant,,ENST00000429892,;LINC01089,upstream_gene_variant,,ENST00000535614,;LINC01089,upstream_gene_variant,,ENST00000535643,;LINC01089,upstream_gene_variant,,ENST00000536662,;LINC01089,upstream_gene_variant,,ENST00000537157,;LINC01089,upstream_gene_variant,,ENST00000538335,;LINC01089,upstream_gene_variant,,ENST00000541694,;LINC01089,upstream_gene_variant,,ENST00000542933,;LINC01089,upstream_gene_variant,,ENST00000543167,;LINC01089,upstream_gene_variant,,ENST00000543334,;LINC01089,upstream_gene_variant,,ENST00000545885,;AC084018.1,downstream_gene_variant,,ENST00000609067,;AC084018.2,downstream_gene_variant,,ENST00000613093,;RHOF,upstream_gene_variant,,ENST00000545544,;,regulatory_region_variant,,ENSR00000270548,; - ENSG00000139718 ENST00000604567 Transcript frameshift_variant 83/5969 15/5901 5/1966 H/X caC/ca COSM202522 1 1 SETD1B HGNC HGNC:29187 protein_coding YES ENSP00000474253 Q9UPS6 UPI00021188EB 2/17 Gene3D:3.30.70.330,mobidb-lite,Low_complexity_(Seg):seg 1 HIGH deletion 5 7 1 1 PASS CACC . . 121804751 NPIPB6 . GRCh38 chr16 28342755 28342755 + Missense_Mutation SNP C C T rs745717000 7316-2155 BS_VZ4NGF34 C C c.1130G>A p.Arg377Gln p.R377Q ENST00000532254 7/7 74 60 14 49 49 0 NPIPB6,missense_variant,p.Arg377Gln,ENST00000532254,NM_001282524.1;NPIPB6,missense_variant,p.Arg359Gln,ENST00000533640,;AC138904.2,downstream_gene_variant,,ENST00000614412,; T ENSG00000198156 ENST00000532254 Transcript missense_variant 1816/2016 1130/1278 377/425 R/Q cGg/cAg rs745717000 1 -1 NPIPB6 HGNC HGNC:37454 protein_coding YES CCDS61892.1 ENSP00000431871 E9PJ23 UPI000047D9DC NM_001282524.1 tolerated_low_confidence(0.1) probably_damaging(0.974) 7/7 mobidb-lite,hmmpanther:PTHR15438,hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF4,hmmpanther:PTHR15438:SF4 MODERATE 1 SNV 1 PASS CCG . . 5.628e-05 0.0001048 0.0001616 5.006e-05 2.42e-05 0.0001108 28342755 MATK . GRCh38 chr19 3784433 3784433 + Missense_Mutation SNP T T C rs760330474 7316-2155 BS_VZ4NGF34 T T c.154A>G p.Thr52Ala p.T52A ENST00000395045 4/14 85 55 29 39 38 0 MATK,missense_variant,p.Thr51Ala,ENST00000310132,NM_139355.2;MATK,missense_variant,p.Thr52Ala,ENST00000395045,NM_002378.3;MATK,missense_variant,p.Thr51Ala,ENST00000585778,;MATK,missense_variant,p.Thr10Ala,ENST00000395040,NM_139354.2;MATK,missense_variant,p.Thr52Ala,ENST00000619596,;MATK,missense_variant,p.Thr51Ala,ENST00000590028,;MATK,missense_variant,p.Thr10Ala,ENST00000590849,;MATK,5_prime_UTR_variant,,ENST00000587180,;MATK,upstream_gene_variant,,ENST00000588983,;MATK,upstream_gene_variant,,ENST00000590493,;MATK,downstream_gene_variant,,ENST00000590980,;MATK,downstream_gene_variant,,ENST00000591059,;MATK,downstream_gene_variant,,ENST00000590821,; C ENSG00000007264 ENST00000395045 Transcript missense_variant 492/2073 154/1527 52/508 T/A Acc/Gcc rs760330474 1 -1 MATK HGNC HGNC:6906 protein_coding YES CCDS12113.1 ENSP00000378485 P42679 UPI000013FB32 NM_002378.3 deleterious(0.02) benign(0.042) 4/14 cd11811,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044 MODERATE 1 SNV 2 PASS GTG . . 9.114e-06 1.008e-05 0.0001986 3784433 ZNF208 . GRCh38 chr19 21974061 21974061 + Missense_Mutation SNP C C A rs202200782 7316-2155 BS_VZ4NGF34 C C c.973G>T p.Val325Phe p.V325F ENST00000397126 4/4 56 37 9 34 25 0 ZNF208,missense_variant,p.Val325Phe,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Val325Phe,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1; A ENSG00000160321 ENST00000397126 Transcript missense_variant 1122/3992 973/3843 325/1280 V/F Gtc/Ttc rs202200782,COSM230374,COSM1630818,COSM1630817 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(0.77) possibly_damaging(0.632) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1,1 MODERATE 1 SNV 3 0,1,1,1 PASS ACC . . 21974061 LILRA1 . GRCh38 chr19 54595789 54595789 + Missense_Mutation SNP C C G rs1006660661 7316-2155 BS_VZ4NGF34 C C c.812C>G p.Pro271Arg p.P271R ENST00000251372 6/10 90 74 14 37 36 0 LILRA1,missense_variant,p.Pro271Arg,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; G ENSG00000104974 ENST00000251372 Transcript missense_variant 994/1910 812/1470 271/489 P/R cCa/cGa rs1006660661 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(1) benign(0.001) 6/10 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CCA . . 4.061e-06 8.952e-06 54595789 KIAA1210 . GRCh38 chrX 119085384 119085384 + Missense_Mutation SNP T C C rs2305570 7316-2155 BS_VZ4NGF34 T T c.4847A>G p.Glu1616Gly p.E1616G ENST00000402510 12/14 35 0 34 25 19 6 KIAA1210,missense_variant,p.Glu1616Gly,ENST00000402510,NM_020721.1; C ENSG00000250423 ENST00000402510 Transcript missense_variant,splice_region_variant 4847/7824 4847/5130 1616/1709 E/G gAg/gGg rs2305570,COSM4002244,COSM4002243 1 -1 KIAA1210 HGNC HGNC:29218 protein_coding YES CCDS48156.1 ENSP00000384670 Q9ULL0 UPI0001596C4C NM_020721.1 tolerated(1) benign(0) 12/14 mobidb-lite 0.3221 0.5563 0.2824 0.5026 0.0548 0.117 0.4767 0.06469 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CTC . . 0.1693 0.5194 0.3297 0.09452 0.466 0.05589 0.05941 0.1457 0.1133 119085384 STAG2 . GRCh38 chrX 124050187 124050187 + Missense_Mutation SNP G T T novel 7316-2155 BS_VZ4NGF34 G G c.895G>T p.Asp299Tyr p.D299Y ENST00000218089 11/35 43 9 33 52 52 0 STAG2,missense_variant,p.Asp299Tyr,ENST00000371160,NM_001282418.1;STAG2,missense_variant,p.Asp299Tyr,ENST00000371157,NM_006603.4;STAG2,missense_variant,p.Asp299Tyr,ENST00000218089,NM_001042749.2;STAG2,missense_variant,p.Asp299Tyr,ENST00000371145,NM_001042750.1;STAG2,missense_variant,p.Asp299Tyr,ENST00000371144,NM_001042751.1;STAG2,missense_variant,p.Asp299Tyr,ENST00000455404,;STAG2,downstream_gene_variant,,ENST00000428941,;STAG2,downstream_gene_variant,,ENST00000435215,;STAG2,intron_variant,,ENST00000466748,;STAG2,intron_variant,,ENST00000469481,;STAG2,intron_variant,,ENST00000471107,;STAG2,intron_variant,,ENST00000483575,;STAG2,downstream_gene_variant,,ENST00000458176,; T ENSG00000101972 ENST00000218089 Transcript missense_variant,splice_region_variant 1405/5218 895/3807 299/1268 D/Y Gat/Tat 1 1 STAG2 HGNC HGNC:11355 protein_coding YES CCDS43990.1 ENSP00000218089 Q8N3U4 UPI00004A3A8A NM_001042749.2 deleterious(0) probably_damaging(0.991) 11/35 Gene3D:1.25.10.10,PROSITE_profiles:PS51425,hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 1 PASS TGA . . 124050187 IDS . GRCh38 chrX 149501042 149501043 + Splice_Region INS - - A rs781852261 7316-2155 BS_VZ4NGF34 - - c.419-6dup ENST00000340855 37 7 24 45 39 2 IDS,splice_region_variant,,ENST00000340855,NM_001166550.3,NM_000202.7;IDS,splice_region_variant,,ENST00000370441,NM_006123.4;AC244197.3,splice_region_variant,,ENST00000422081,;IDS,downstream_gene_variant,,ENST00000428056,;IDS,downstream_gene_variant,,ENST00000521702,;IDS,splice_region_variant,,ENST00000490775,;AC244197.3,splice_region_variant,,ENST00000523759,;AC244197.3,intron_variant,,ENST00000441880,;AC244197.3,downstream_gene_variant,,ENST00000427113,;IDS,upstream_gene_variant,,ENST00000466019,;IDS,splice_region_variant,,ENST00000464251,;IDS,splice_region_variant,,ENST00000466323,; A ENSG00000010404 ENST00000340855 Transcript splice_region_variant,intron_variant rs781852261 1 -1 IDS HGNC HGNC:5389 protein_coding YES CCDS14685.1 ENSP00000339801 P22304 UPI000012D213 NM_001166550.3,NM_000202.7 3/8 uncertain_significance LOW 1 insertion 1 1 PASS GGA . . 0.01235 0.008436 0.0151 0.00966 0.01128 0.02872 0.009529 0.01627 0.009792 149501042 ORC1 . GRCh38 chr1 52383577 52383577 + Splice_Region SNP G G A rs367621377 7316-38 BS_TE01WW4M G G c.1864-8C>T ENST00000371568 75 48 27 30 30 0 ORC1,splice_region_variant,,ENST00000371566,;ORC1,splice_region_variant,,ENST00000371568,NM_001190819.1,NM_004153.3,NM_001190818.1; A ENSG00000085840 ENST00000371568 Transcript splice_region_variant,intron_variant rs367621377 1 -1 ORC1 HGNC HGNC:8487 protein_coding YES CCDS566.1 ENSP00000360623 Q13415 UPI000013D2FB NM_001190819.1,NM_004153.3,NM_001190818.1 12/16 0.0001163 LOW 1 SNV 1 1 PASS GGG . . 1.219e-05 6.534e-05 1.792e-05 52383577 RAP1A . GRCh38 chr1 111619936 111619936 + Splice_Site SNP T T G rs1030124422 7316-38 BS_TE01WW4M T T c.-28+2T>G ENST00000369709 81 59 13 36 32 1 RAP1A,splice_donor_variant,,ENST00000369709,NM_001291896.1,NM_001010935.2,NM_002884.3;RAP1A,splice_donor_variant,,ENST00000433097,;RAP1A,intron_variant,,ENST00000356415,;,regulatory_region_variant,,ENSR00000011398,; G ENSG00000116473 ENST00000369709 Transcript splice_donor_variant rs1030124422 1 1 RAP1A HGNC HGNC:9855 protein_coding YES CCDS840.1 ENSP00000358723 P62834 A8KAH9 UPI0000001250 NM_001291896.1,NM_001010935.2,NM_002884.3 1/7 HIGH 1 SNV 1 1 PASS GTG . . 111619936 AL645568.1 . GRCh38 chr1 173418624 173418624 + Splice_Site SNP T T A rs1445867029 7316-38 BS_TE01WW4M T T n.986-2A>T ENST00000367716 68 57 6 40 39 0 AL645568.1,splice_acceptor_variant,,ENST00000367716,;AL645568.1,splice_acceptor_variant,,ENST00000437190,;,regulatory_region_variant,,ENSR00000015964,; A ENSG00000203739 ENST00000367716 Transcript splice_acceptor_variant,non_coding_transcript_variant rs1445867029 1 -1 AL645568.1 Clone_based_ensembl_gene antisense YES 1/1 HIGH 1 SNV 1 PASS CTA . . 173418624 INAVA . GRCh38 chr1 200901164 200901164 + Splice_Region SNP G G A novel 7316-38 BS_TE01WW4M G G c.520+5G>A ENST00000413687 80 73 7 42 42 0 INAVA,splice_region_variant,,ENST00000367342,NM_018265.3;INAVA,splice_region_variant,,ENST00000413687,NM_001142569.2;INAVA,downstream_gene_variant,,ENST00000451872,;INAVA,downstream_gene_variant,,ENST00000532631,;INAVA,upstream_gene_variant,,ENST00000531649,; A ENSG00000163362 ENST00000413687 Transcript splice_region_variant,intron_variant 1 1 INAVA HGNC HGNC:25599 protein_coding YES CCDS44292.1 ENSP00000392105 Q3KP66 UPI0000204714 NM_001142569.2 5/9 LOW 1 SNV 2 PASS AGC . . 200901164 IL18RAP . GRCh38 chr2 102451962 102451963 + Frame_Shift_Ins INS - - A novel 7316-38 BS_TE01WW4M - - c.1587dup p.Ala530SerfsTer21 p.A530Sfs*21 ENST00000264260 12/12 90 43 35 43 37 1 IL18RAP,frameshift_variant,p.Ala530SerfsTer21,ENST00000264260,NM_003853.3;IL18RAP,frameshift_variant,p.Ala388SerfsTer21,ENST00000409369,; A ENSG00000115607 ENST00000264260 Transcript frameshift_variant 2170-2171/2773 1581-1582/1800 527-528/599 -/X -/A 1 1 IL18RAP HGNC HGNC:5989 protein_coding YES CCDS2061.1 ENSP00000264260 O95256 UPI0000071CAF NM_003853.3 12/12 Gene3D:3.40.50.10140,Pfam_domain:PF01582,PROSITE_profiles:PS50104,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF23,SMART_domains:SM00255,Superfamily_domains:SSF52200 HIGH 1 insertion 1 6 PASS TGA . . 102451962 TTN . GRCh38 chr2 178560865 178560865 + Nonsense_Mutation SNP G G A rs769664554 7316-38 BS_TE01WW4M G G c.85267C>T p.Arg28423Ter p.R28423* ENST00000589042 326/363 74 67 6 47 47 0 TTN,stop_gained,p.Arg28423Ter,ENST00000589042,NM_001267550.2;TTN,stop_gained,p.Arg26782Ter,ENST00000591111,;TTN,stop_gained,p.Arg26782Ter,ENST00000615779,NM_001256850.1;TTN,stop_gained,p.Arg25855Ter,ENST00000342992,NM_133378.4;TTN,stop_gained,p.Arg19358Ter,ENST00000460472,NM_003319.4;TTN,stop_gained,p.Arg19550Ter,ENST00000342175,NM_133437.4;TTN,stop_gained,p.Arg19483Ter,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000630096,;AC009948.5,downstream_gene_variant,,ENST00000624360,; A ENSG00000155657 ENST00000589042 Transcript stop_gained 85492/109224 85267/107976 28423/35991 R/* Cga/Tga rs769664554,COSM1231037,COSM1010887,COSM1010886,COSM1010884 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 326/363 Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05748 0,1,1,1,1 HIGH SNV 5 0,1,1,1,1 1 PASS CGT . . 8.149e-06 8.992e-06 3.25e-05 178560865 NABP1 . GRCh38 chr2 191685605 191685605 + Missense_Mutation SNP G G T novel 7316-38 BS_TE01WW4M G G c.452G>T p.Gly151Val p.G151V ENST00000425611 6/6 64 36 28 32 32 0 NABP1,missense_variant,p.Gly71Val,ENST00000410026,NM_001254736.1;NABP1,missense_variant,p.Gly151Val,ENST00000425611,NM_001031716.2;NABP1,missense_variant,p.Gly115Val,ENST00000435931,;NABP1,missense_variant,p.Gly71Val,ENST00000409510,;RF02271,downstream_gene_variant,,ENST00000617424,;NABP1,3_prime_UTR_variant,,ENST00000307849,;NABP1,3_prime_UTR_variant,,ENST00000451500,;NABP1,3_prime_UTR_variant,,ENST00000307834,;NABP1,downstream_gene_variant,,ENST00000462712,;NABP1,downstream_gene_variant,,ENST00000462824,;NABP1,downstream_gene_variant,,ENST00000491331,; T ENSG00000173559 ENST00000425611 Transcript missense_variant 535/1878 452/615 151/204 G/V gGt/gTt 1 1 NABP1 HGNC HGNC:26232 protein_coding YES CCDS33352.1 ENSP00000403683 Q96AH0 UPI000006F339 NM_001031716.2 deleterious(0) possibly_damaging(0.541) 6/6 mobidb-lite MODERATE 1 SNV 1 1 PASS GGT . . 191685605 MASP1 . GRCh38 chr3 187256800 187256800 + Missense_Mutation SNP G G A novel 7316-38 BS_TE01WW4M G G c.608C>T p.Pro203Leu p.P203L ENST00000296280 5/11 79 48 31 36 36 0 MASP1,missense_variant,p.Pro203Leu,ENST00000337774,NM_001879.5;MASP1,missense_variant,p.Pro203Leu,ENST00000296280,NM_139125.3;MASP1,missense_variant,p.Pro90Leu,ENST00000392472,;MASP1,missense_variant,p.Pro203Leu,ENST00000169293,NM_001031849.2;MASP1,missense_variant,p.Pro177Leu,ENST00000392470,;MASP1,downstream_gene_variant,,ENST00000392475,;MASP1,non_coding_transcript_exon_variant,,ENST00000490558,;MASP1,intron_variant,,ENST00000495249,;MASP1,downstream_gene_variant,,ENST00000465015,;MASP1,non_coding_transcript_exon_variant,,ENST00000460839,;MASP1,upstream_gene_variant,,ENST00000483719,; A ENSG00000127241 ENST00000296280 Transcript missense_variant 834/4015 608/2187 203/728 P/L cCa/cTa 1 -1 MASP1 HGNC HGNC:6901 protein_coding YES CCDS33908.1 ENSP00000296280 P48740 UPI000007256E NM_139125.3 deleterious(0) probably_damaging(1) 5/11 Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00042,Superfamily_domains:SSF49854,cd00041 MODERATE 1 SNV 1 1 PASS TGG . . 187256800 MUC4 . GRCh38 chr3 195779756 195779756 + Missense_Mutation SNP T T G rs145875920 7316-38 BS_TE01WW4M T T c.11824A>C p.Thr3942Pro p.T3942P ENST00000463781 2/25 97 77 13 46 44 0 MUC4,missense_variant,p.Thr3942Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr3942Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr3942Pro,ENST00000478156,;MUC4,missense_variant,p.Thr3942Pro,ENST00000466475,;MUC4,missense_variant,p.Thr3942Pro,ENST00000477756,;MUC4,missense_variant,p.Thr3942Pro,ENST00000477086,;MUC4,missense_variant,p.Thr3942Pro,ENST00000480843,;MUC4,missense_variant,p.Thr3942Pro,ENST00000462323,;MUC4,missense_variant,p.Thr3942Pro,ENST00000470451,;MUC4,missense_variant,p.Thr3942Pro,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 12284/17110 11824/16239 3942/5412 T/P Act/Cct rs145875920,COSM479901 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.32) benign(0) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0.0288 0.0658 0.0115 0.0179 0.0189 0.0123 0,1 MODERATE 1 SNV 5 0,1 1 PASS GTG . . 0.04113 0.1607 0.02689 0.08287 0.07286 0.02869 0.0331 0.04539 0.0359 195779756 MUC4 . GRCh38 chr3 195783223 195783223 + Missense_Mutation SNP T T G rs7375093 7316-38 BS_TE01WW4M T T c.8357A>C p.His2786Pro p.H2786P ENST00000463781 2/25 34 23 8 18 18 0 MUC4,missense_variant,p.His2786Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His2786Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His2786Pro,ENST00000478156,;MUC4,missense_variant,p.His2786Pro,ENST00000466475,;MUC4,missense_variant,p.His2786Pro,ENST00000477756,;MUC4,missense_variant,p.His2786Pro,ENST00000477086,;MUC4,missense_variant,p.His2786Pro,ENST00000480843,;MUC4,missense_variant,p.His2786Pro,ENST00000462323,;MUC4,missense_variant,p.His2786Pro,ENST00000470451,;MUC4,missense_variant,p.His2786Pro,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 8817/17110 8357/16239 2786/5412 H/P cAt/cCt rs7375093,COSM4157689 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.37) benign(0.234) 2/25 mobidb-lite,hmmpanther:PTHR42668 0.0176 0.034 0.0072 0.006 0.0119 0.0204 0,1 MODERATE 1 SNV 5 0,1 1 PASS ATG . . 195783223 MUC4 . GRCh38 chr3 195786352 195786352 + Missense_Mutation SNP C C G rs2641777 7316-38 BS_TE01WW4M C C c.5228G>C p.Ser1743Thr p.S1743T ENST00000463781 2/25 66 46 11 31 29 0 MUC4,missense_variant,p.Ser1743Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser1743Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser1743Thr,ENST00000478156,;MUC4,missense_variant,p.Ser1743Thr,ENST00000466475,;MUC4,missense_variant,p.Ser1743Thr,ENST00000477756,;MUC4,missense_variant,p.Ser1743Thr,ENST00000477086,;MUC4,missense_variant,p.Ser1743Thr,ENST00000480843,;MUC4,missense_variant,p.Ser1743Thr,ENST00000462323,;MUC4,missense_variant,p.Ser1743Thr,ENST00000470451,;MUC4,missense_variant,p.Ser1743Thr,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 5688/17110 5228/16239 1743/5412 S/T aGc/aCc rs2641777,COSM4322692 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(1) benign(0.159) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCT . . 0.001116 0.003151 0.00149 0.000144 0.002159 7.519e-05 0.001541 0.001984 0.0003495 195786352 PHOX2B . GRCh38 chr4 41748376 41748376 + Missense_Mutation SNP C C T novel 7316-38 BS_TE01WW4M C C c.235G>A p.Ala79Thr p.A79T ENST00000226382 1/3 77 69 7 45 45 0 PHOX2B,missense_variant,p.Ala79Thr,ENST00000226382,NM_003924.3;AC105389.1,upstream_gene_variant,,ENST00000510602,;AC105389.3,non_coding_transcript_exon_variant,,ENST00000508038,;PHOX2B,upstream_gene_variant,,ENST00000510424,; T ENSG00000109132 ENST00000226382 Transcript missense_variant 595/3030 235/945 79/314 A/T Gcc/Acc 1 -1 PHOX2B HGNC HGNC:9143 protein_coding YES CCDS3463.1 ENSP00000226382 Q99453 UPI000000D936 NM_003924.3 tolerated(0.16) benign(0.013) 1/3 hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF301 MODERATE 1 SNV 1 1 PASS GCG . . 41748376 TRPC3 . GRCh38 chr4 121907469 121907469 + Missense_Mutation SNP G G A rs202011680 7316-38 BS_TE01WW4M G G c.1891C>T p.Pro631Ser p.P631S ENST00000379645 7/12 82 41 41 37 37 0 TRPC3,missense_variant,p.Pro558Ser,ENST00000264811,NM_003305.2;TRPC3,missense_variant,p.Pro631Ser,ENST00000379645,NM_001130698.1;TRPC3,missense_variant,p.Pro503Ser,ENST00000513531,;TRPC3,3_prime_UTR_variant,,ENST00000506449,; A ENSG00000138741 ENST00000379645 Transcript missense_variant 1965/3548 1891/2766 631/921 P/S Cct/Tct rs202011680 1 -1 TRPC3 HGNC HGNC:12335 protein_coding YES CCDS47130.1 ENSP00000368966 Q13507 UPI00004C6F61 NM_001130698.1 deleterious(0.01) probably_damaging(0.998) 7/12 hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF8,Pfam_domain:PF00520,Gene3D:1.10.287.70,TIGRFAM_domain:TIGR00870 MODERATE 1 SNV 1 1 PASS GGG . . 121907469 CDKL3 . GRCh38 chr5 134306676 134306676 + Missense_Mutation SNP C C T rs776106778 7316-38 BS_TE01WW4M C C c.1391G>A p.Arg464His p.R464H ENST00000265334 10/13 86 43 37 32 25 0 CDKL3,missense_variant,p.Arg464His,ENST00000521118,;CDKL3,missense_variant,p.Arg464His,ENST00000265334,NM_001113575.1;CDKL3,missense_variant,p.Arg275His,ENST00000523054,NM_001300853.1;CDKL3,upstream_gene_variant,,ENST00000518990,;CDKL3,downstream_gene_variant,,ENST00000521755,;CDKL3,downstream_gene_variant,,ENST00000523832,NM_016508.3;AC104109.4,intron_variant,,ENST00000518409,;CDKL3,3_prime_UTR_variant,,ENST00000520693,;CDKL3,3_prime_UTR_variant,,ENST00000519312,;AC104109.4,non_coding_transcript_exon_variant,,ENST00000520515,;CDKL3,downstream_gene_variant,,ENST00000520592,; T ENSG00000006837 ENST00000265334 Transcript missense_variant 1510/2130 1391/1779 464/592 R/H cGc/cAc rs776106778,COSM4344410,COSM4344409,COSM1200594 1 -1 CDKL3 HGNC HGNC:15483 protein_coding YES CCDS47264.1 ENSP00000265334 Q8IVW4 UPI00000745AD NM_001113575.1 tolerated(0.37) benign(0.003) 10/13 mobidb-lite,hmmpanther:PTHR24056:SF177,hmmpanther:PTHR24056 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS GCG . . 1.955e-05 0.0001573 2.045e-05 134306676 MUC12 . GRCh38 chr7 100992385 100992385 + Missense_Mutation SNP G G A rs573974174 7316-38 BS_TE01WW4M G G c.1822G>A p.Val608Ile p.V608I ENST00000536621 2/12 169 122 34 61 58 0 MUC12,missense_variant,p.Val751Ile,ENST00000379442,;MUC12,missense_variant,p.Val608Ile,ENST00000536621,NM_001164462.1;,regulatory_region_variant,,ENSR00000327519,; A ENSG00000205277 ENST00000536621 Transcript missense_variant 1822/16321 1822/16008 608/5335 V/I Gtc/Atc rs573974174 1 1 MUC12 HGNC HGNC:7510 protein_coding YES CCDS55139.1 ENSP00000441929 Q9UKN1 UPI0001B25898 NM_001164462.1 tolerated(0.61) benign(0) 2/12 mobidb-lite,hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF25 0.0008 0.0014 0.001 0.002 MODERATE 1 SNV 5 PASS CGT . . 0.0004794 0.0001297 0.0005864 0.003783 0.0002751 0.001028 0.0002634 100992385 AASS . GRCh38 chr7 122098872 122098872 + Splice_Region SNP T T A rs1473621931 7316-38 BS_TE01WW4M T T c.1407-6A>T ENST00000393376 81 55 8 32 29 0 AASS,splice_region_variant,,ENST00000393376,;AASS,splice_region_variant,,ENST00000417368,NM_005763.3;AASS,intron_variant,,ENST00000473553,;AASS,splice_region_variant,,ENST00000358954,;AASS,splice_region_variant,,ENST00000431170,; A ENSG00000008311 ENST00000393376 Transcript splice_region_variant,intron_variant rs1473621931 1 -1 AASS HGNC HGNC:17366 protein_coding YES CCDS5783.1 ENSP00000377040 Q9UDR5 A4D0W4 UPI000004A105 12/22 LOW 1 SNV 1 1 PASS TTA . . 122098872 KMT2C . GRCh38 chr7 152176927 152176928 + Frame_Shift_Ins INS - - T novel 7316-38 BS_TE01WW4M - - c.8525dup p.Asn2842LysfsTer2 p.N2842Kfs*2 ENST00000262189 38/59 76 34 38 28 27 0 KMT2C,frameshift_variant,p.Asn2842LysfsTer2,ENST00000262189,NM_170606.2;KMT2C,frameshift_variant,p.Asn2842LysfsTer2,ENST00000355193,;KMT2C,frameshift_variant,p.Asn348LysfsTer2,ENST00000360104,;KMT2C,downstream_gene_variant,,ENST00000558665,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,; T ENSG00000055609 ENST00000262189 Transcript frameshift_variant 8744-8745/16862 8525-8526/14736 2842/4911 N/KX aat/aaAt 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 38/59 Gene3D:1.20.1000.10,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,mobidb-lite HIGH 1 insertion 1 1 PASS CAT . . 152176927 DEPTOR . GRCh38 chr8 120049640 120049640 + Missense_Mutation SNP G A A rs4871827 7316-38 BS_TE01WW4M G G c.1166G>A p.Ser389Asn p.S389N ENST00000286234 9/9 33 0 33 44 34 10 DEPTOR,missense_variant,p.Ser389Asn,ENST00000286234,NM_022783.3;DEPTOR,missense_variant,p.Ser288Asn,ENST00000523492,NM_001283012.1;AC091563.1,upstream_gene_variant,,ENST00000520544,;DEPTOR,downstream_gene_variant,,ENST00000518057,; A ENSG00000155792 ENST00000286234 Transcript missense_variant 1296/2569 1166/1230 389/409 S/N aGc/aAc rs4871827,COSM3736458 1 1 DEPTOR HGNC HGNC:22953 protein_coding YES CCDS6331.1 ENSP00000286234 Q8TB45 UPI000013DE38 NM_022783.3 tolerated(0.08) benign(0.007) 9/9 Gene3D:2.30.42.10,PROSITE_profiles:PS50106,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF18,SMART_domains:SM00228,Superfamily_domains:SSF50156,cd00992 0.2995 0.1241 0.4784 0.5526 0.331 0.1166 0.1491 0.317 0,1 MODERATE 1 SNV 1 0,1 PASS AGC . . 0.3299 0.1492 0.4601 0.3587 0.5784 0.2989 0.3319 0.3538 0.1402 120049640 PRSS3 . GRCh38 chr9 33796768 33796768 + Missense_Mutation SNP C C A rs1385198925 7316-38 BS_TE01WW4M C C c.337C>A p.Gln113Lys p.Q113K ENST00000361005 2/5 74 63 8 36 36 0 PRSS3,missense_variant,p.Gln70Lys,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Gln113Lys,ENST00000361005,NM_007343.3;PRSS3,missense_variant,p.Gln56Lys,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Gln49Lys,ENST00000429677,NM_001197098.1;PRSS3,missense_variant,p.Gln68Lys,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00000334924,; A ENSG00000010438 ENST00000361005 Transcript missense_variant 337/966 337/915 113/304 Q/K Cag/Aag rs1385198925 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 deleterious(0.04) benign(0.065) 2/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 MODERATE 1 SNV 1 PASS ACA . . 33796768 GOLGA1 . GRCh38 chr9 124899360 124899360 + Missense_Mutation SNP G G T rs1216397168 7316-38 BS_TE01WW4M G G c.1280C>A p.Ala427Glu p.A427E ENST00000373555 14/23 79 42 36 30 29 0 GOLGA1,missense_variant,p.Ala427Glu,ENST00000373555,NM_002077.3;GOLGA1,3_prime_UTR_variant,,ENST00000475407,;GOLGA1,3_prime_UTR_variant,,ENST00000485337,;GOLGA1,downstream_gene_variant,,ENST00000373551,; T ENSG00000136935 ENST00000373555 Transcript missense_variant 1614/4811 1280/2304 427/767 A/E gCa/gAa rs1216397168 1 -1 GOLGA1 HGNC HGNC:4424 protein_coding YES CCDS6860.1 ENSP00000362656 Q92805 UPI000013D059 NM_002077.3 tolerated(1) benign(0.001) 14/23 hmmpanther:PTHR23157:SF24,hmmpanther:PTHR23157 MODERATE 1 SNV 1 PASS TGC . . 124899360 DGKZ . GRCh38 chr11 46347688 46347688 + Missense_Mutation SNP C C A rs76656670 7316-38 BS_TE01WW4M C C c.29C>A p.Ala10Asp p.A10D ENST00000456247 1/31 99 78 18 29 29 0 DGKZ,missense_variant,p.Ala10Asp,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala10Asp,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 117/3482 29/2787 10/928 A/D gCc/gAc rs76656670,COSM228548 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 tolerated_low_confidence(0.59) probably_damaging(0.991) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS GCC . . 0.3023 0.1359 0.2655 0.3276 0.1687 0.35 0.3649 0.3035 0.2366 46347688 IGHMBP2 . GRCh38 chr11 68936288 68936288 + Missense_Mutation SNP G G A rs151079750 7316-38 BS_TE01WW4M G G c.1808G>A p.Arg603His p.R603H ENST00000255078 13/15 79 74 5 41 41 0 IGHMBP2,missense_variant,p.Arg603His,ENST00000255078,NM_002180.2;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000541229,;IGHMBP2,downstream_gene_variant,,ENST00000536803,;IGHMBP2,downstream_gene_variant,,ENST00000568742,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000543739,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000539064,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000545475,;IGHMBP2,downstream_gene_variant,,ENST00000537458,;IGHMBP2,upstream_gene_variant,,ENST00000544521,; A ENSG00000132740 ENST00000255078 Transcript missense_variant 1919/3961 1808/2982 603/993 R/H cGt/cAt rs151079750,CM034536 1 1 IGHMBP2 HGNC HGNC:5542 protein_coding YES CCDS8187.1 ENSP00000255078 P38935 UPI000013CE82 NM_002180.2 deleterious(0) probably_damaging(1) 13/15 PDB-ENSP_mappings:4b3f.X,PDB-ENSP_mappings:4b3g.A,PDB-ENSP_mappings:4b3g.B,Low_complexity_(Seg):seg,hmmpanther:PTHR43788:SF2,hmmpanther:PTHR43788,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00376,Pfam_domain:PF13087,Superfamily_domains:SSF52540 0.0001164 uncertain_significance,pathogenic 25741868 MODERATE 1 SNV 1 1,1 1 PASS CGT . . 8.13e-06 1.794e-05 68936288 SLC36A4 . GRCh38 chr11 93162838 93162838 + Missense_Mutation SNP C C T rs375634223 7316-38 BS_TE01WW4M C C c.905G>A p.Arg302His p.R302H ENST00000326402 9/11 83 74 8 40 39 0 SLC36A4,missense_variant,p.Arg302His,ENST00000326402,NM_152313.3;SLC36A4,missense_variant,p.Arg167His,ENST00000529184,NM_001286139.1;SLC36A4,missense_variant,p.Arg196His,ENST00000534116,;SLC36A4,non_coding_transcript_exon_variant,,ENST00000526735,; T ENSG00000180773 ENST00000326402 Transcript missense_variant 1036/6012 905/1515 302/504 R/H cGt/cAt rs375634223,COSM5517677,COSM1357853 1 -1 SLC36A4 HGNC HGNC:19660 protein_coding YES CCDS8291.1 ENSP00000317382 Q6YBV0 UPI00001A8555 NM_152313.3 tolerated(0.36) benign(0.025) 9/11 hmmpanther:PTHR22950:SF190,hmmpanther:PTHR22950,Pfam_domain:PF01490 0.0002272 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ACG . . 3.265e-05 0.0001963 3.007e-05 5.813e-05 2.699e-05 93162838 AEBP2 . GRCh38 chr12 19439920 19439920 + Missense_Mutation SNP T T G rs1057382444 7316-38 BS_TE01WW4M T T c.221T>G p.Val74Gly p.V74G ENST00000398864 1/9 80 63 11 35 32 0 AEBP2,missense_variant,p.Val74Gly,ENST00000398864,NM_001114176.1;AEBP2,missense_variant,p.Val74Gly,ENST00000266508,NM_153207.4;AEBP2,intron_variant,,ENST00000538425,;AEBP2,intron_variant,,ENST00000541908,;AEBP2,upstream_gene_variant,,ENST00000360995,NM_001267043.1;,regulatory_region_variant,,ENSR00000049482,;,TF_binding_site_variant,,MA0162.2,; G ENSG00000139154 ENST00000398864 Transcript missense_variant 247/5099 221/1554 74/517 V/G gTg/gGg rs1057382444 1 1 AEBP2 HGNC HGNC:24051 protein_coding YES CCDS44841.1 ENSP00000381840 Q6ZN18 UPI00002290BB NM_001114176.1 deleterious_low_confidence(0.03) benign(0) 1/9 hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF80,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 0.0004678 0.001211 0.0006655 0.000171 0.0007225 0.0005765 0.0004367 0.0001757 19439920 RAPGEF3 . GRCh38 chr12 47740681 47740681 + Missense_Mutation SNP C C T rs375977878 7316-38 BS_TE01WW4M C C c.2192G>A p.Arg731Gln p.R731Q ENST00000449771 21/28 89 43 45 46 45 0 RAPGEF3,missense_variant,p.Arg731Gln,ENST00000449771,NM_001098531.2;RAPGEF3,missense_variant,p.Arg689Gln,ENST00000405493,NM_006105.5,NM_001098532.2;RAPGEF3,missense_variant,p.Arg731Gln,ENST00000389212,;RAPGEF3,missense_variant,p.Arg689Gln,ENST00000549151,;RAPGEF3,missense_variant,p.Arg640Gln,ENST00000548919,;RAPGEF3,downstream_gene_variant,,ENST00000395358,;AC004241.1,non_coding_transcript_exon_variant,,ENST00000547799,;RAPGEF3,missense_variant,p.Arg123Gln,ENST00000548434,;RAPGEF3,3_prime_UTR_variant,,ENST00000547856,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000395360,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000488250,;RAPGEF3,intron_variant,,ENST00000473777,;RAPGEF3,intron_variant,,ENST00000479866,;RAPGEF3,intron_variant,,ENST00000482843,;RAPGEF3,upstream_gene_variant,,ENST00000476259,;RAPGEF3,upstream_gene_variant,,ENST00000490387,; T ENSG00000079337 ENST00000449771 Transcript missense_variant 2281/6061 2192/2772 731/923 R/Q cGg/cAg rs375977878 1 -1 RAPGEF3 HGNC HGNC:16629 protein_coding YES CCDS41775.1 ENSP00000395708 O95398 UPI0000406B36 NM_001098531.2 deleterious(0) probably_damaging(0.999) 21/28 cd00155,Pfam_domain:PF00617,Gene3D:1.10.840.10,SMART_domains:SM00147,Superfamily_domains:SSF48366,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF24 0.0001163 MODERATE 1 SNV 2 PASS CCG . . 47740681 KRT18 . GRCh38 chr12 52949541 52949541 + Missense_Mutation SNP T T A rs748671089 7316-38 BS_TE01WW4M T T c.368T>A p.Val123Asp p.V123D ENST00000388835 1/7 92 74 15 43 42 1 KRT18,missense_variant,p.Val123Asp,ENST00000550600,;KRT18,missense_variant,p.Val123Asp,ENST00000388835,NM_000224.2;KRT18,missense_variant,p.Val123Asp,ENST00000388837,NM_199187.1;KRT8,5_prime_UTR_variant,,ENST00000552551,;KRT8,5_prime_UTR_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.1;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000619952,;KRT8,non_coding_transcript_exon_variant,,ENST00000549198,;KRT8,non_coding_transcript_exon_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,intron_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; A ENSG00000111057 ENST00000388835 Transcript missense_variant 578/1562 368/1293 123/430 V/D gTc/gAc rs748671089,COSM6211889 1 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373487 P05783 A0A024RAY2 UPI000004284B NM_000224.2 deleterious(0.05) benign(0.078) 1/7 hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF35,Gene3D:1.20.5.340,Pfam_domain:PF00038,SMART_domains:SM01391 0,1 MODERATE 1 SNV 1 0,1 PASS GTC . . 52949541 RCBTB2 . GRCh38 chr13 48502748 48502748 + Missense_Mutation SNP C C T rs148279651 7316-38 BS_TE01WW4M C C c.1108G>A p.Val370Ile p.V370I ENST00000430805 10/14 73 41 32 29 29 0 RCBTB2,missense_variant,p.Val365Ile,ENST00000344532,NM_001268.3,NM_001352424.1;RCBTB2,missense_variant,p.Val370Ile,ENST00000430805,NM_001286830.1;RCBTB2,missense_variant,p.Val341Ile,ENST00000544904,NM_001286831.1;RCBTB2,missense_variant,p.Val91Ile,ENST00000544492,NM_001286832.1;RB1,intron_variant,,ENST00000643064,; T ENSG00000136161 ENST00000430805 Transcript missense_variant 1475/3179 1108/1671 370/556 V/I Gtc/Atc rs148279651 1 -1 RCBTB2 HGNC HGNC:1914 protein_coding YES CCDS73572.1 ENSP00000389910 B4DWG0 UPI00004DCFEF NM_001286830.1 tolerated(0.06) benign(0.235) 10/14 hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF220 0.0002272 0.0003492 MODERATE 1 SNV 2 PASS ACG . . 0.0005505 0.001109 0.0006166 5.82e-05 0.0001352 0.0006728 0.0003686 0.0003587 48502748 DCUN1D2 . GRCh38 chr13 113484008 113484008 + Missense_Mutation SNP A A T novel 7316-38 BS_TE01WW4M A A c.52T>A p.Cys18Ser p.C18S ENST00000478244 2/7 67 32 35 39 39 0 DCUN1D2,missense_variant,p.Cys18Ser,ENST00000478244,NM_001014283.1;DCUN1D2,missense_variant,p.Cys3Ser,ENST00000465938,;DCUN1D2,missense_variant,p.Cys3Ser,ENST00000439909,;DCUN1D2,missense_variant,p.Cys3Ser,ENST00000465710,;DCUN1D2,intron_variant,,ENST00000332592,;DCUN1D2,intron_variant,,ENST00000496873,;RNU1-16P,upstream_gene_variant,,ENST00000365477,;DCUN1D2,upstream_gene_variant,,ENST00000460318,;DCUN1D2,missense_variant,p.Cys18Ser,ENST00000375403,;DCUN1D2,missense_variant,p.Cys76Ser,ENST00000438545,; T ENSG00000150401 ENST00000478244 Transcript missense_variant 335/2045 52/780 18/259 C/S Tgc/Agc 1 -1 DCUN1D2 HGNC HGNC:20328 protein_coding YES CCDS32013.1 ENSP00000417706 Q6PH85 UPI00001CE006 NM_001014283.1 deleterious(0.01) benign(0.001) 2/7 Gene3D:1.10.8.10,Pfam_domain:PF14555,hmmpanther:PTHR12281,hmmpanther:PTHR12281:SF10,Superfamily_domains:SSF46934,cd14412 MODERATE 1 SNV 1 PASS CAC . . 113484008 MYO1E . GRCh38 chr15 59223084 59223084 + Missense_Mutation SNP G G T novel 7316-38 BS_TE01WW4M G G c.885C>A p.Asn295Lys p.N295K ENST00000288235 9/28 76 65 9 39 39 0 MYO1E,missense_variant,p.Asn295Lys,ENST00000288235,NM_004998.3;MYO1E,missense_variant,p.Asn125Lys,ENST00000559269,;MYO1E,upstream_gene_variant,,ENST00000559489,;MYO1E,non_coding_transcript_exon_variant,,ENST00000558814,;MYO1E,downstream_gene_variant,,ENST00000558571,; T ENSG00000157483 ENST00000288235 Transcript missense_variant 1285/8673 885/3327 295/1108 N/K aaC/aaA 1 -1 MYO1E HGNC HGNC:7599 protein_coding YES CCDS32254.1 ENSP00000288235 Q12965 Q4KMR3 UPI00001FE590 NM_004998.3 deleterious(0.02) possibly_damaging(0.835) 9/28 PROSITE_profiles:PS51456,cd01378,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,Gene3D:3.40.50.300,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 1 PASS AGT . . 59223084 AXIN1 . GRCh38 chr16 304329 304329 + Missense_Mutation SNP T T C novel 7316-38 BS_TE01WW4M T T c.1229A>G p.Glu410Gly p.E410G ENST00000262320 5/11 71 35 35 32 32 0 AXIN1,missense_variant,p.Glu410Gly,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Glu410Gly,ENST00000354866,NM_181050.2;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,; C ENSG00000103126 ENST00000262320 Transcript missense_variant 1601/3643 1229/2589 410/862 E/G gAg/gGg 1 -1 AXIN1 HGNC HGNC:903 protein_coding YES CCDS10405.1 ENSP00000262320 O15169 A0A0S2Z4R0 UPI000012669E NM_003502.3 deleterious(0) probably_damaging(0.998) 5/11 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTC . . 304329 CIITA . GRCh38 chr16 10909136 10909136 + Missense_Mutation SNP C C T rs537794932 7316-38 BS_TE01WW4M C C c.2768C>T p.Ala923Val p.A923V ENST00000618327 12/20 55 45 10 41 41 0 CIITA,missense_variant,p.Ala922Val,ENST00000324288,NM_000246.3;CIITA,missense_variant,p.Ala923Val,ENST00000618327,NM_001286402.1;CIITA,missense_variant,p.Ala338Val,ENST00000381835,NM_001286403.1;CIITA,intron_variant,,ENST00000618207,;CIITA,intron_variant,,ENST00000537380,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;CIITA,downstream_gene_variant,,ENST00000573309,; T ENSG00000179583 ENST00000618327 Transcript missense_variant 2901/4657 2768/3396 923/1131 A/V gCc/gTc rs537794932 1 1 CIITA HGNC HGNC:7067 protein_coding YES CCDS73826.1 ENSP00000485010 A0A087X2I7 UPI0003C0C509 NM_001286402.1 tolerated(0.14) benign(0.028) 12/20 cd00116,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF104 MODERATE 1 SNV 2 1 PASS GCC . . 4.065e-06 5.8e-05 10909136 TRIM25 . GRCh38 chr17 56901428 56901428 + Missense_Mutation SNP G G C novel 7316-38 BS_TE01WW4M G G c.1078C>G p.Pro360Ala p.P360A ENST00000316881 4/9 107 61 43 33 33 0 TRIM25,missense_variant,p.Pro360Ala,ENST00000316881,NM_005082.4;TRIM25,missense_variant,p.Pro360Ala,ENST00000537230,;TRIM25,non_coding_transcript_exon_variant,,ENST00000572550,;TRIM25,3_prime_UTR_variant,,ENST00000572021,;TRIM25,non_coding_transcript_exon_variant,,ENST00000570749,;TRIM25,non_coding_transcript_exon_variant,,ENST00000570473,; C ENSG00000121060 ENST00000316881 Transcript missense_variant 1128/5734 1078/1893 360/630 P/A Ccc/Gcc 1 -1 TRIM25 HGNC HGNC:12932 protein_coding YES CCDS11591.1 ENSP00000323889 Q14258 UPI00001AE6B8 NM_005082.4 tolerated(0.26) benign(0) 4/9 PDB-ENSP_mappings:4cfg.A,PDB-ENSP_mappings:4cfg.B,PDB-ENSP_mappings:4ltb.A,PDB-ENSP_mappings:4ltb.B,mobidb-lite,Gene3D:1.20.1170.10,hmmpanther:PTHR44796 MODERATE 1 SNV 1 PASS GGG . . 56901428 BPTF . GRCh38 chr17 67912067 67912067 + Missense_Mutation SNP T T A novel 7316-38 BS_TE01WW4M T T c.4183T>A p.Ser1395Thr p.S1395T ENST00000306378 11/28 143 129 8 34 34 0 BPTF,missense_variant,p.Ser1521Thr,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Ser1382Thr,ENST00000644067,;BPTF,missense_variant,p.Ser1382Thr,ENST00000342579,;BPTF,missense_variant,p.Ser1395Thr,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Ser1382Thr,ENST00000424123,;BPTF,missense_variant,p.Ser1458Thr,ENST00000544778,; A ENSG00000171634 ENST00000306378 Transcript missense_variant 4243/9688 4183/8763 1395/2920 S/T Tct/Act 1 1 BPTF HGNC HGNC:3581 protein_coding YES CCDS11673.1 ENSP00000307208 Q12830 UPI00002263BF NM_182641.3 tolerated_low_confidence(0.73) benign(0.005) 11/28 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22880:SF137,hmmpanther:PTHR22880 MODERATE 1 SNV 1 1 PASS GTC . . 67912067 DSG1 . GRCh38 chr18 31346135 31346135 + Missense_Mutation SNP T T A novel 7316-38 BS_TE01WW4M T T c.2037T>A p.Asn679Lys p.N679K ENST00000257192 14/15 76 40 34 49 49 0 DSG1,missense_variant,p.Asn679Lys,ENST00000257192,NM_001942.3;DSG1,missense_variant,p.Asn38Lys,ENST00000462981,;RNU6-167P,upstream_gene_variant,,ENST00000384292,;DSG1-AS1,intron_variant,,ENST00000578119,;DSG1-AS1,intron_variant,,ENST00000581856,;DSG1-AS1,downstream_gene_variant,,ENST00000578477,; A ENSG00000134760 ENST00000257192 Transcript missense_variant 2249/5045 2037/3150 679/1049 N/K aaT/aaA 1 1 DSG1 HGNC HGNC:3048 protein_coding YES CCDS11896.1 ENSP00000257192 Q02413 UPI000013CF4C NM_001942.3 tolerated(0.3) benign(0.038) 14/15 Pfam_domain:PF01049,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9 MODERATE 1 SNV 1 1 PASS ATT . . 31346135 OR7C2 . GRCh38 chr19 14941791 14941792 + Frame_Shift_Ins INS - - T rs1392370943 7316-38 BS_TE01WW4M - - c.311dup p.Ile105HisfsTer17 p.I105Hfs*17 ENST00000248072 1/1 79 41 32 52 51 0 OR7C2,frameshift_variant,p.Ile105HisfsTer17,ENST00000248072,NM_012377.1; T ENSG00000127529 ENST00000248072 Transcript frameshift_variant 303-304/960 303-304/960 101-102/319 -/X -/T rs1392370943 1 1 OR7C2 HGNC HGNC:8374 protein_coding YES CCDS12320.1 ENSP00000248072 O60412 UPI0000041E80 NM_012377.1 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF307,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15234 HIGH 1 insertion 8 PASS TAT . . 4.067e-06 8.968e-06 14941791 CYP4F12 . GRCh38 chr19 15685060 15685060 + Splice_Region SNP C C A novel 7316-38 BS_TE01WW4M C C c.986-8C>A ENST00000550308 63 55 8 42 42 0 CYP4F12,splice_region_variant,,ENST00000324632,;CYP4F12,splice_region_variant,,ENST00000550308,NM_023944.3;CYP4F12,downstream_gene_variant,,ENST00000551607,;CYP4F12,splice_region_variant,,ENST00000517734,;CYP4F12,splice_region_variant,,ENST00000518629,;CYP4F12,splice_region_variant,,ENST00000546608,;CYP4F12,splice_region_variant,,ENST00000550627,;CYP4F12,downstream_gene_variant,,ENST00000430608,;CYP4F12,downstream_gene_variant,,ENST00000451750,;CYP4F12,downstream_gene_variant,,ENST00000546792,;CYP4F12,downstream_gene_variant,,ENST00000547332,;CYP4F12,downstream_gene_variant,,ENST00000547471,;CYP4F12,downstream_gene_variant,,ENST00000548237,;CYP4F12,downstream_gene_variant,,ENST00000548435,;CYP4F12,downstream_gene_variant,,ENST00000548501,;CYP4F12,downstream_gene_variant,,ENST00000549622,; A ENSG00000186204 ENST00000550308 Transcript splice_region_variant,intron_variant 1 1 CYP4F12 HGNC HGNC:18857 protein_coding YES CCDS42517.1 ENSP00000448998 A0A0A0MR49 UPI00020B9EFD NM_023944.3 8/12 LOW 1 SNV 1 PASS GCT . . 15685060 ZNF43 . GRCh38 chr19 21808664 21808664 + Missense_Mutation SNP A A T rs984464377 7316-38 BS_TE01WW4M A A c.1400T>A p.Val467Glu p.V467E ENST00000357491 4/4 84 72 11 31 31 0 ZNF43,missense_variant,p.Val452Glu,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Val467Glu,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Val452Glu,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Val452Glu,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Val458Glu,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 1534/5249 1400/2457 467/818 V/E gTa/gAa rs984464377,COSM5032190 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(1) benign(0) 4/4 Gene3D:2.20.28.30,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TAC . . 8.343e-06 9.101e-06 3.445e-05 21808664 PSG3 . GRCh38 chr19 42738920 42738920 + Nonsense_Mutation SNP G G C novel 7316-38 BS_TE01WW4M G G c.234C>G p.Tyr78Ter p.Y78* ENST00000327495 2/7 67 42 25 34 34 0 PSG3,stop_gained,p.Tyr78Ter,ENST00000327495,NM_021016.3;PSG3,stop_gained,p.Tyr78Ter,ENST00000595140,;PSG3,stop_gained,p.Tyr78Ter,ENST00000614582,;PSG3,non_coding_transcript_exon_variant,,ENST00000490592,;PSG3,stop_gained,p.Tyr7Ter,ENST00000594378,;PSG3,non_coding_transcript_exon_variant,,ENST00000597009,; C ENSG00000221826 ENST00000327495 Transcript stop_gained 419/1961 234/1287 78/428 Y/* taC/taG 1 -1 PSG3 HGNC HGNC:9520 protein_coding YES CCDS12611.1 ENSP00000332215 Q16557 UPI0000073DC1 NM_021016.3 2/7 cd05774,hmmpanther:PTHR45244,hmmpanther:PTHR45244:SF5,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726 HIGH 1 SNV 1 PASS TGT . . 42738920 ZNF154 . GRCh38 chr19 57702530 57702530 + Missense_Mutation SNP T T C novel 7316-38 BS_TE01WW4M T T c.419A>G p.Lys140Arg p.K140R ENST00000512439 3/4 91 76 14 35 35 0 ZNF154,missense_variant,p.Lys140Arg,ENST00000512439,NM_001085384.2;AC003006.1,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC003006.1,intron_variant,,ENST00000599221,;ZNF154,missense_variant,p.Lys140Arg,ENST00000451275,; C ENSG00000179909 ENST00000512439 Transcript missense_variant 616/5687 419/1314 140/437 K/R aAa/aGa 1 -1 ZNF154 HGNC HGNC:12939 protein_coding YES CCDS42639.1 ENSP00000421258 Q13106 A0A024R4Q0 UPI00001D819A NM_001085384.2 deleterious(0.02) benign(0.003) 3/4 hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF676,Gene3D:3.30.160.60,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTT . . 57702530 ACSS1 . GRCh38 chr20 25048158 25048158 + Missense_Mutation SNP G G A rs199932802 7316-38 BS_TE01WW4M G G c.358C>T p.Arg120Trp p.R120W ENST00000323482 2/14 59 30 29 24 24 0 ACSS1,missense_variant,p.Arg120Trp,ENST00000323482,NM_001252675.1,NM_032501.3;ACSS1,missense_variant,p.Arg120Trp,ENST00000432802,NM_001252677.1;ACSS1,missense_variant,p.Arg120Trp,ENST00000376726,; A ENSG00000154930 ENST00000323482 Transcript missense_variant 438/3680 358/2070 120/689 R/W Cgg/Tgg rs199932802 1 -1 ACSS1 HGNC HGNC:16091 protein_coding YES CCDS13167.1 ENSP00000316924 Q9NUB1 UPI00001615FE NM_001252675.1,NM_032501.3 tolerated(0.09) benign(0.011) 2/14 cd05966,hmmpanther:PTHR24095:SF110,hmmpanther:PTHR24095,Pfam_domain:PF00501,TIGRFAM_domain:TIGR02188,Gene3D:3.40.50.980,Superfamily_domains:SSF56801 0.0004 0.002 0.0001163 MODERATE 1 SNV 1 PASS CGA . . 0.0001221 6.539e-05 0.000232 0.0002062 0.0001825 3.252e-05 25048158 ABHD12 . GRCh38 chr20 25308493 25308493 + Missense_Mutation SNP C C T rs760259853 7316-38 BS_TE01WW4M C C c.751G>A p.Val251Met p.V251M ENST00000376542 8/13 80 44 33 32 32 0 ABHD12,missense_variant,p.Val251Met,ENST00000339157,NM_001042472.2;ABHD12,missense_variant,p.Val251Met,ENST00000376542,NM_015600.4;ABHD12,missense_variant,p.Val94Met,ENST00000491682,;ABHD12,missense_variant,p.Val94Met,ENST00000471287,;ABHD12,missense_variant,p.Val19Met,ENST00000576316,;ABHD12,downstream_gene_variant,,ENST00000450393,;ABHD12,splice_region_variant,,ENST00000481556,; T ENSG00000100997 ENST00000376542 Transcript missense_variant,splice_region_variant 1031/1725 751/1215 251/404 V/M Gtg/Atg rs760259853 1 -1 ABHD12 HGNC HGNC:15868 protein_coding YES CCDS13172.1 ENSP00000365725 Q8N2K0 UPI000006F03A NM_015600.4 deleterious(0) possibly_damaging(0.899) 8/13 hmmpanther:PTHR12277:SF61,hmmpanther:PTHR12277,Pfam_domain:PF12146,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474 MODERATE 1 SNV 1 1 PASS ACG . . 8.389e-06 0.0001399 25308493 CLIC6 . GRCh38 chr21 34670149 34670149 + Missense_Mutation SNP A A G rs914584759 7316-38 BS_TE01WW4M A A c.761A>G p.Asp254Gly p.D254G ENST00000360731 1/7 68 39 11 27 23 0 CLIC6,missense_variant,p.Asp254Gly,ENST00000360731,NM_001317009.1;CLIC6,missense_variant,p.Asp254Gly,ENST00000349499,NM_053277.2;,regulatory_region_variant,,ENSR00000141723,; G ENSG00000159212 ENST00000360731 Transcript missense_variant 761/3860 761/2115 254/704 D/G gAc/gGc rs914584759,COSM6240442,COSM6240441 1 1 CLIC6 HGNC HGNC:2065 protein_coding YES CCDS82669.1 ENSP00000353959 Q96NY7 UPI0000074422 NM_001317009.1 tolerated_low_confidence(1) benign(0) 1/7 mobidb-lite,hmmpanther:PTHR45476 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GAC . . 0.0002558 0.0005453 0.007937 34670149 DHX9 . GRCh38 chr1 182843290 182843290 + Splice_Region SNP A A T 7316-178 BS_ZMPNTK3D A A c.112-4A>T ENST00000367549 80 73 5 36 35 0 DHX9,splice_region_variant,,ENST00000367549,NM_001357.4;DHX9,splice_region_variant,,ENST00000483416,; T ENSG00000135829 ENST00000367549 Transcript splice_region_variant,intron_variant COSM4227427 1 1 DHX9 HGNC HGNC:2750 protein_coding YES CCDS41444.1 ENSP00000356520 Q08211 UPI00001AEF15 NM_001357.4 2/27 1 LOW 1 SNV 1 1 PASS TAA . . 182843290 IBA57 . GRCh38 chr1 228166139 228166139 + Missense_Mutation SNP A A C novel 7316-178 BS_ZMPNTK3D A A c.323A>C p.Tyr108Ser p.Y108S ENST00000366711 1/3 96 81 9 45 43 0 IBA57,missense_variant,p.Tyr108Ser,ENST00000366711,NM_001010867.3;IBA57-DT,upstream_gene_variant,,ENST00000366713,;IBA57-DT,upstream_gene_variant,,ENST00000496552,;,regulatory_region_variant,,ENSR00000021272,;,TF_binding_site_variant,,MA0492.1,;,TF_binding_site_variant,,MA0492.1,;,TF_binding_site_variant,,MA0488.1,;,TF_binding_site_variant,,MA0488.1,; C ENSG00000181873 ENST00000366711 Transcript missense_variant 325/7817 323/1071 108/356 Y/S tAt/tCt 1 1 IBA57 HGNC HGNC:27302 protein_coding YES CCDS31046.1 ENSP00000355672 Q5T440 UPI0000160A21 NM_001010867.3 deleterious(0) probably_damaging(0.978) 1/3 hmmpanther:PTHR22602,Gene3D:3.30.70.1400,Superfamily_domains:SSF103025 MODERATE 1 SNV 2 1 PASS TAT . . 228166139 MYCN . GRCh38 chr2 15942738 15942738 + Missense_Mutation SNP T T G novel 7316-178 BS_ZMPNTK3D T T c.674T>G p.Ile225Ser p.I225S ENST00000281043 2/3 1323 1235 68 41 38 2 MYCN,missense_variant,p.Ile225Ser,ENST00000281043,NM_001293233.1,NM_001293228.1,NM_005378.5;MYCN,intron_variant,,ENST00000638417,NM_001293231.1;MYCNOS,upstream_gene_variant,,ENST00000419083,;MYCNOS,upstream_gene_variant,,ENST00000641263,;MYCNOS,upstream_gene_variant,,ENST00000641387,;MYCNOS,upstream_gene_variant,,ENST00000641534,;MYCNOS,upstream_gene_variant,,ENST00000641950,;,regulatory_region_variant,,ENSR00000289888,; G ENSG00000134323 ENST00000281043 Transcript missense_variant 971/2602 674/1395 225/464 I/S aTt/aGt 1 1 MYCN HGNC HGNC:7559 protein_coding YES CCDS1687.1 ENSP00000281043 P04198 UPI000012FAF8 NM_001293233.1,NM_001293228.1,NM_005378.5 tolerated(0.89) benign(0) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11514,hmmpanther:PTHR11514:SF3,Pfam_domain:PF01056,PIRSF_domain:PIRSF001705 MODERATE SNV 5 1 PASS ATT . . 15942738 DPP10 . GRCh38 chr2 115499545 115499545 + Missense_Mutation SNP G G A rs761571881 7316-178 BS_ZMPNTK3D G G c.319G>A p.Val107Ile p.V107I ENST00000393147 4/26 71 49 21 45 45 0 DPP10,missense_variant,p.Val103Ile,ENST00000410059,NM_020868.4,NM_001321907.1;DPP10,missense_variant,p.Val53Ile,ENST00000409163,NM_001321914.1,NM_001178037.1,NM_001321911.1,NM_001321905.1,NM_001178036.1,NM_001321912.1,NM_001321908.1,NM_001321910.1,NM_001321913.1;DPP10,missense_variant,p.Val96Ile,ENST00000310323,NM_001321909.1,NM_001004360.3,NM_001321906.1;DPP10,missense_variant,p.Val107Ile,ENST00000393147,NM_001178034.1;DPP10,missense_variant,p.Val53Ile,ENST00000436732,;DPP10,missense_variant,p.Val99Ile,ENST00000393146,;DPP10,missense_variant,p.Val53Ile,ENST00000419287,;DPP10,non_coding_transcript_exon_variant,,ENST00000488208,;DPP10,missense_variant,p.Met57Ile,ENST00000429914,;DPP10,non_coding_transcript_exon_variant,,ENST00000461250,;DPP10,non_coding_transcript_exon_variant,,ENST00000486885,; A ENSG00000175497 ENST00000393147 Transcript missense_variant 674/2758 319/2403 107/800 V/I Gtc/Atc rs761571881,COSM6648931,COSM6648930,COSM6648929,COSM6319263,COSM6319262,COSM6319261 1 1 DPP10 HGNC HGNC:20823 protein_coding YES CCDS54388.1 ENSP00000376855 Q8N608 UPI00015E0A22 NM_001178034.1 tolerated(0.11) benign(0.427) 4/26 hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Gene3D:2.140.10.30,Superfamily_domains:SSF82171 0,1,1,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1,1,1 PASS TGT . . 4.086e-06 4.497e-05 115499545 CHPF . GRCh38 chr2 219543306 219543306 + Missense_Mutation SNP T T G novel 7316-178 BS_ZMPNTK3D T T c.233A>C p.Glu78Ala p.E78A ENST00000243776 1/4 79 68 9 53 51 1 CHPF,missense_variant,p.Glu78Ala,ENST00000243776,NM_024536.5;CHPF,missense_variant,p.Glu78Ala,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000344458,NM_001303098.1;ASIC4,downstream_gene_variant,,ENST00000347842,NM_182847.2;ASIC4,downstream_gene_variant,,ENST00000358078,NM_018674.5;TMEM198,upstream_gene_variant,,ENST00000373883,NM_001005209.2;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000451952,;CHPF,upstream_gene_variant,,ENST00000535926,NM_001195731.1;AC009955.3,downstream_gene_variant,,ENST00000596829,;ASIC4,downstream_gene_variant,,ENST00000474489,;,regulatory_region_variant,,ENSR00000130573,; G ENSG00000123989 ENST00000243776 Transcript missense_variant 482/3013 233/2328 78/775 E/A gAa/gCa 1 -1 CHPF HGNC HGNC:24291 protein_coding YES CCDS2443.1 ENSP00000243776 Q8IZ52 UPI00001AE6D6 NM_024536.5 tolerated(0.72) benign(0) 1/4 hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF22,mobidb-lite MODERATE 1 SNV 1 PASS TTC . . 219543306 SLC4A7 . GRCh38 chr3 27484075 27484075 + Missense_Mutation SNP T T G novel 7316-178 BS_ZMPNTK3D T T c.52A>C p.Thr18Pro p.T18P ENST00000454389 1/26 75 64 10 54 51 2 SLC4A7,missense_variant,p.Thr18Pro,ENST00000454389,NM_001321103.1;SLC4A7,missense_variant,p.Thr18Pro,ENST00000440156,NM_001321104.1;SLC4A7,missense_variant,p.Thr18Pro,ENST00000445684,NM_001321105.1;SLC4A7,splice_region_variant,,ENST00000425128,;SLC4A7,splice_region_variant,,ENST00000437179,NM_001321107.1;SLC4A7,splice_region_variant,,ENST00000446700,NM_001321106.1;SLC4A7,splice_region_variant,,ENST00000455077,NM_001321108.1,NM_001258379.1;SLC4A7,splice_region_variant,,ENST00000428005,;SLC4A7,splice_region_variant,,ENST00000437266,;SLC4A7,splice_region_variant,,ENST00000438530,;SLC4A7,splice_region_variant,,ENST00000457377,;,regulatory_region_variant,,ENSR00000149986,;AC099535.1,upstream_gene_variant,,ENST00000408928,; G ENSG00000033867 ENST00000454389 Transcript missense_variant 273/4159 52/3780 18/1259 T/P Acg/Ccg 1 -1 SLC4A7 HGNC HGNC:11033 protein_coding YES CCDS82747.1 ENSP00000390394 Q9Y6M7 UPI000198C958 NM_001321103.1 tolerated(0.31) benign(0.116) 1/26 hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 27484075 SEMA3F . GRCh38 chr3 50174324 50174324 + Missense_Mutation SNP T T G novel 7316-178 BS_ZMPNTK3D T T c.430T>G p.Tyr144Asp p.Y144D ENST00000002829 5/19 114 103 6 54 54 0 SEMA3F,missense_variant,p.Tyr144Asp,ENST00000002829,NM_004186.4;SEMA3F,missense_variant,p.Tyr144Asp,ENST00000434342,NM_001318800.1;SEMA3F,missense_variant,p.Tyr76Asp,ENST00000413852,NM_001318798.1;SEMA3F,missense_variant,p.Tyr144Asp,ENST00000450338,;SEMA3F,missense_variant,p.Tyr144Asp,ENST00000414301,;SEMA3F,missense_variant,p.Tyr108Asp,ENST00000420831,;SEMA3F,downstream_gene_variant,,ENST00000426511,;MIR566,downstream_gene_variant,,ENST00000385187,; G ENSG00000001617 ENST00000002829 Transcript missense_variant 914/3802 430/2358 144/785 Y/D Tat/Gat 1 1 SEMA3F HGNC HGNC:10728 protein_coding YES CCDS2811.1 ENSP00000002829 Q13275 UPI0000135A69 NM_004186.4 deleterious(0) possibly_damaging(0.876) 5/19 Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF27,SMART_domains:SM00630,Superfamily_domains:SSF101912,cd11254 MODERATE 1 SNV 1 PASS CTA . . 50174324 MUC4 . GRCh38 chr3 195782338 195782338 + Missense_Mutation SNP G G A rs79077485 7316-178 BS_ZMPNTK3D G G c.9242C>T p.Ala3081Val p.A3081V ENST00000463781 2/25 72 57 10 39 39 0 MUC4,missense_variant,p.Ala3081Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3081Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3081Val,ENST00000478156,;MUC4,missense_variant,p.Ala3081Val,ENST00000466475,;MUC4,missense_variant,p.Ala3081Val,ENST00000477756,;MUC4,missense_variant,p.Ala3081Val,ENST00000477086,;MUC4,missense_variant,p.Ala3081Val,ENST00000480843,;MUC4,missense_variant,p.Ala3081Val,ENST00000462323,;MUC4,missense_variant,p.Ala3081Val,ENST00000470451,;MUC4,missense_variant,p.Ala3081Val,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 9702/17110 9242/16239 3081/5412 A/V gCa/gTa rs79077485,COSM4157657 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.39) possibly_damaging(0.494) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TGC . . 0.0003142 0.000305 0.001859 0.0002643 195782338 MUC4 . GRCh38 chr3 195788386 195788386 + Missense_Mutation SNP G G A rs867474974 7316-178 BS_ZMPNTK3D G G c.3194C>T p.Ala1065Val p.A1065V ENST00000463781 2/25 74 64 6 36 32 0 MUC4,missense_variant,p.Ala1065Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala1065Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala1065Val,ENST00000478156,;MUC4,missense_variant,p.Ala1065Val,ENST00000466475,;MUC4,missense_variant,p.Ala1065Val,ENST00000477756,;MUC4,missense_variant,p.Ala1065Val,ENST00000477086,;MUC4,missense_variant,p.Ala1065Val,ENST00000480843,;MUC4,missense_variant,p.Ala1065Val,ENST00000462323,;MUC4,missense_variant,p.Ala1065Val,ENST00000470451,;MUC4,missense_variant,p.Ala1065Val,ENST00000479406,;,regulatory_region_variant,,ENSR00000308220,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 3654/17110 3194/16239 1065/5412 A/V gCa/gTa rs867474974,COSM226100 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.43) benign(0.048) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TGC . . 6.725e-06 1.697e-05 195788386 NHLRC1 . GRCh38 chr6 18122568 18122568 + Missense_Mutation SNP A A C novel 7316-178 BS_ZMPNTK3D A A c.39T>G p.His13Gln p.H13Q ENST00000340650 1/1 91 82 6 53 51 0 NHLRC1,missense_variant,p.His13Gln,ENST00000340650,NM_198586.2;,regulatory_region_variant,,ENSR00000194239,; C ENSG00000187566 ENST00000340650 Transcript missense_variant 120/2248 39/1188 13/395 H/Q caT/caG 1 -1 NHLRC1 HGNC HGNC:21576 protein_coding YES CCDS4542.1 ENSP00000345464 Q6VVB1 UPI0000198CE1 NM_198586.2 tolerated(0.56) benign(0) 1/1 hmmpanther:PTHR24104,hmmpanther:PTHR24104:SF12,Gene3D:3.30.40.10 MODERATE 1 SNV 1 PASS CAT . . 18122568 GLCCI1 . GRCh38 chr7 7969472 7969472 + Missense_Mutation SNP A A C novel 7316-178 BS_ZMPNTK3D A A c.122A>C p.Asn41Thr p.N41T ENST00000223145 1/8 52 39 12 25 24 0 GLCCI1,missense_variant,p.Asn41Thr,ENST00000223145,NM_138426.3;GLCCI1,upstream_gene_variant,,ENST00000414914,;GLCCI1,upstream_gene_variant,,ENST00000430798,;UMAD1,downstream_gene_variant,,ENST00000482067,;AC006042.2,intron_variant,,ENST00000428660,;AC007161.3,intron_variant,,ENST00000469183,;GLCCI1,upstream_gene_variant,,ENST00000470583,;GLCCI1,upstream_gene_variant,,ENST00000474269,;GLCCI1,upstream_gene_variant,,ENST00000460897,;GLCCI1,upstream_gene_variant,,ENST00000492797,;,regulatory_region_variant,,ENSR00000324743,; C ENSG00000106415 ENST00000223145 Transcript missense_variant 679/4743 122/1644 41/547 N/T aAc/aCc 1 1 GLCCI1 HGNC HGNC:18713 protein_coding YES CCDS34601.1 ENSP00000223145 Q86VQ1 UPI00001907F7 NM_138426.3 deleterious_low_confidence(0.02) benign(0.005) 1/8 hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 7969472 AHCYL2 . GRCh38 chr7 129225275 129225275 + Missense_Mutation SNP T T G novel 7316-178 BS_ZMPNTK3D T T c.199T>G p.Ser67Ala p.S67A ENST00000325006 1/17 77 68 9 31 28 1 AHCYL2,missense_variant,p.Ser67Ala,ENST00000325006,NM_015328.3;AHCYL2,missense_variant,p.Ser67Ala,ENST00000446544,NM_001130720.2;,regulatory_region_variant,,ENSR00000217839,; G ENSG00000158467 ENST00000325006 Transcript missense_variant 253/5056 199/1836 67/611 S/A Tcg/Gcg 1 1 AHCYL2 HGNC HGNC:22204 protein_coding YES CCDS5812.1 ENSP00000315931 Q96HN2 UPI00001354E4 NM_015328.3 tolerated_low_confidence(0.15) benign(0.001) 1/17 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CTC . . 129225275 PTCH1 . GRCh38 chr9 95453584 95453584 + Frame_Shift_Del DEL C - - novel 7316-178 BS_ZMPNTK3D C C c.3343del p.Ala1115LeufsTer24 p.A1115Lfs*24 ENST00000331920 20/24 36 4 30 38 38 0 PTCH1,frameshift_variant,p.Ala1049LeufsTer24,ENST00000430669,;PTCH1,frameshift_variant,p.Ala1115LeufsTer24,ENST00000331920,NM_000264.3;PTCH1,frameshift_variant,p.Ala1049LeufsTer24,ENST00000437951,NM_001083602.1;PTCH1,frameshift_variant,p.Ala964LeufsTer24,ENST00000418258,NM_001083607.1;PTCH1,frameshift_variant,p.Ala964LeufsTer24,ENST00000421141,NM_001083605.1,NM_001083604.1;PTCH1,frameshift_variant,p.Ala964LeufsTer24,ENST00000429896,NM_001083606.1;PTCH1,frameshift_variant,p.Ala1114LeufsTer24,ENST00000375274,NM_001083603.1;PTCH1,downstream_gene_variant,,ENST00000547615,;PTCH1,3_prime_UTR_variant,,ENST00000375290,;PTCH1,upstream_gene_variant,,ENST00000546744,; - ENSG00000185920 ENST00000331920 Transcript frameshift_variant 3643/8057 3343/4344 1115/1447 A/X Gct/ct 1 -1 PTCH1 HGNC HGNC:9585 protein_coding YES CCDS6714.1 ENSP00000332353 Q13635 UPI00001AFF9C NM_000264.3 20/24 Gene3D:1.20.1640.10,Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,Superfamily_domains:SSF82866,TIGRFAM_domain:TIGR00918 HIGH 1 deletion 5 1 PASS AGCC . . 95453583 CCDC187 . GRCh38 chr9 136256777 136256777 + Missense_Mutation SNP A A C novel 7316-178 BS_ZMPNTK3D A A c.4431T>G p.His1477Gln p.H1477Q ENST00000638797 23/26 41 29 10 45 42 1 CCDC187,missense_variant,p.His1477Gln,ENST00000638797,; C ENSG00000260220 ENST00000638797 Transcript missense_variant 4700/10126 4431/6234 1477/2077 H/Q caT/caG 1 -1 CCDC187 HGNC HGNC:30942 protein_coding ENSP00000492326 A0A1W2PQX5 UPI00097BA6FA tolerated(0.36) probably_damaging(0.946) 23/26 hmmpanther:PTHR13958:SF5,hmmpanther:PTHR13958,mobidb-lite MODERATE 1 SNV 5 PASS CAT . . 136256777 PDZD7 . GRCh38 chr10 101020666 101020666 + Missense_Mutation SNP A A C novel 7316-178 BS_ZMPNTK3D A A c.880T>G p.Tyr294Asp p.Y294D ENST00000619208 7/17 63 50 12 36 34 1 PDZD7,missense_variant,p.Tyr294Asp,ENST00000619208,NM_001195263.1;PDZD7,missense_variant,p.Tyr294Asp,ENST00000433616,;PDZD7,missense_variant,p.Tyr294Asp,ENST00000644782,;PDZD7,missense_variant,p.Tyr294Asp,ENST00000645349,;PDZD7,missense_variant,p.Tyr294Asp,ENST00000370215,NM_024895.4;PDZD7,3_prime_UTR_variant,,ENST00000474125,;PDZD7,downstream_gene_variant,,ENST00000470414,; C ENSG00000186862 ENST00000619208 Transcript missense_variant 1128/4134 880/3102 294/1033 Y/D Tat/Gat 1 -1 PDZD7 HGNC HGNC:26257 protein_coding YES CCDS73182.1 ENSP00000480489 Q9H5P4 UPI0001D15DE5 NM_001195263.1 deleterious(0) probably_damaging(0.982) 7/17 Gene3D:2.30.42.10,hmmpanther:PTHR23116,hmmpanther:PTHR23116:SF29,Superfamily_domains:SSF50156 MODERATE 1 SNV 5 1 PASS TAC . . 101020666 OR5F1 . GRCh38 chr11 55994390 55994390 + Missense_Mutation SNP G G T novel 7316-178 BS_ZMPNTK3D G G c.236C>A p.Pro79Gln p.P79Q ENST00000278409 1/1 65 34 31 49 49 0 OR5F1,missense_variant,p.Pro79Gln,ENST00000278409,NM_003697.1; T ENSG00000149133 ENST00000278409 Transcript missense_variant 236/945 236/945 79/314 P/Q cCa/cAa 1 -1 OR5F1 HGNC HGNC:8343 protein_coding YES CCDS31515.1 ENSP00000278409 O95221 UPI0000041D19 NM_003697.1 deleterious(0) probably_damaging(0.999) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15411,hmmpanther:PTHR26452:SF731,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237 MODERATE 1 SNV PASS TGG . . 55994390 ACIN1 . GRCh38 chr14 23061591 23061591 + Missense_Mutation SNP C C T rs768618558 7316-178 BS_ZMPNTK3D C C c.3305G>A p.Arg1102His p.R1102H ENST00000262710 17/19 91 48 41 48 48 0 ACIN1,missense_variant,p.Arg1102His,ENST00000262710,NM_014977.3;ACIN1,missense_variant,p.Arg1062His,ENST00000457657,NM_001164815.1;ACIN1,missense_variant,p.Arg1044His,ENST00000605057,;ACIN1,missense_variant,p.Arg1089His,ENST00000555053,NM_001164814.1;ACIN1,missense_variant,p.Arg343His,ENST00000557515,;ACIN1,missense_variant,p.Arg344His,ENST00000397341,;ACIN1,missense_variant,p.Arg344His,ENST00000357481,NM_001164817.1;ACIN1,missense_variant,p.Arg375His,ENST00000338631,NM_001164816.1;CDH24,upstream_gene_variant,,ENST00000397359,NM_022478.3;CDH24,upstream_gene_variant,,ENST00000487137,NM_144985.3;ACIN1,downstream_gene_variant,,ENST00000555566,;CDH24,upstream_gene_variant,,ENST00000610348,;ACIN1,3_prime_UTR_variant,,ENST00000473758,;ACIN1,non_coding_transcript_exon_variant,,ENST00000555478,;ACIN1,non_coding_transcript_exon_variant,,ENST00000555395,;ACIN1,downstream_gene_variant,,ENST00000553790,;ACIN1,downstream_gene_variant,,ENST00000554680,;ACIN1,downstream_gene_variant,,ENST00000555807,;ACIN1,downstream_gene_variant,,ENST00000556052,;ACIN1,downstream_gene_variant,,ENST00000557039,; T ENSG00000100813 ENST00000262710 Transcript missense_variant 3633/4935 3305/4026 1102/1341 R/H cGt/cAt rs768618558 1 -1 ACIN1 HGNC HGNC:17066 protein_coding YES CCDS9587.1 ENSP00000262710 Q9UKV3 UPI000013D308 NM_014977.3 deleterious_low_confidence(0.01) possibly_damaging(0.556) 17/19 mobidb-lite,hmmpanther:PTHR10799:SF637,hmmpanther:PTHR10799,Gene3D:3.30.70.330 MODERATE 1 SNV 1 PASS ACG . . 2.804e-05 9.282e-05 6.823e-05 9.253e-05 23061591 IGHV2-70D . GRCh38 chr14 106723819 106723819 + Missense_Mutation SNP G G A rs1272475467 7316-178 BS_ZMPNTK3D G G c.113C>T p.Thr38Ile p.T38I ENST00000390634 2/2 105 87 18 26 26 0 IGHV2-70D,missense_variant,p.Thr38Ile,ENST00000390634,;IGHV3-69-1,downstream_gene_variant,,ENST00000631386,; A ENSG00000211974 ENST00000390634 Transcript missense_variant 189/434 113/358 38/119 T/I aCa/aTa rs1272475467 1 -1 IGHV2-70D HGNC HGNC:49602 IG_V_gene YES ENSP00000375043 A0A0C4DH43 UPI0002C6CE0B deleterious(0) possibly_damaging(0.491) 2/2 MODERATE 1 SNV PASS TGT . . 106723819 CACNA1H . GRCh38 chr16 1202195 1202195 + Missense_Mutation SNP T T G 7316-178 BS_ZMPNTK3D T T c.1745T>G p.Ile582Arg p.I582R ENST00000348261 9/35 94 80 9 49 47 1 CACNA1H,missense_variant,p.Ile582Arg,ENST00000348261,NM_021098.2;CACNA1H,missense_variant,p.Ile582Arg,ENST00000358590,NM_001005407.1;CACNA1H,missense_variant,p.Ile569Arg,ENST00000638323,;CACNA1H,missense_variant,p.Ile582Arg,ENST00000565831,;AC120498.6,downstream_gene_variant,,ENST00000564700,;CACNA1H,missense_variant,p.Ile582Arg,ENST00000639478,;CACNA1H,intron_variant,,ENST00000640028,;CACNA1H,downstream_gene_variant,,ENST00000564954,; G ENSG00000196557 ENST00000348261 Transcript missense_variant 2113/8208 1745/7062 582/2353 I/R aTa/aGa COSM4748465,COSM4748464,COSM4748463 1 1 CACNA1H HGNC HGNC:1395 protein_coding YES CCDS45375.1 ENSP00000334198 O95180 UPI000012727B NM_021098.2 deleterious(0.04) benign(0.027) 9/35 hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192 1,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS ATA . . 1202195 NOMO2 . GRCh38 chr16 18531526 18531526 + Missense_Mutation SNP C C T rs1062413 7316-178 BS_ZMPNTK3D C C c.1477G>A p.Val493Met p.V493M ENST00000621364 13/32 43 35 8 36 35 0 NOMO2,missense_variant,p.Val493Met,ENST00000330537,;NOMO2,missense_variant,p.Val493Met,ENST00000622306,NM_173614.2;NOMO2,missense_variant,p.Val493Met,ENST00000621364,NM_001004060.1;NOMO2,missense_variant,p.Val493Met,ENST00000381474,;NOMO2,missense_variant,p.Val326Met,ENST00000543392,;NOMO2,missense_variant,p.Val61Met,ENST00000569051,;NOMO2,3_prime_UTR_variant,,ENST00000564991,;NOMO2,upstream_gene_variant,,ENST00000567831,;AC136618.2,upstream_gene_variant,,ENST00000575091,; T ENSG00000185164 ENST00000621364 Transcript missense_variant 1549/3921 1477/3804 493/1267 V/M Gtg/Atg rs1062413,COSM6237392,COSM6237391 1 -1 NOMO2 HGNC HGNC:22652 protein_coding YES CCDS32394.1 ENSP00000477502 Q5JPE7 UPI00001AFC79 NM_001004060.1 deleterious(0.01) possibly_damaging(0.502) 13/32 Gene3D:2.60.40.1120,hmmpanther:PTHR23303,hmmpanther:PTHR23303:SF14 0.0086 0.0015 0.0159 0.0218 0.001 0.0072 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ACG . . 0.003756 0.0003969 0.01692 0.0003076 0.01476 0.0006338 0.0005538 0.003588 0.002377 18531526 AATK . GRCh38 chr17 81120475 81120475 + Missense_Mutation SNP A A C novel 7316-178 BS_ZMPNTK3D A A c.3461T>G p.Leu1154Trp p.L1154W ENST00000326724 11/14 72 59 12 50 49 1 AATK,missense_variant,p.Leu1154Trp,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Leu1051Trp,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;MIR657,downstream_gene_variant,,ENST00000385003,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,intron_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,; C ENSG00000181409 ENST00000326724 Transcript missense_variant 3486/5257 3461/4125 1154/1374 L/W tTg/tGg 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 tolerated(0.19) benign(0.318) 11/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS CAA . . 81120475 PHLPP1 . GRCh38 chr18 62716900 62716900 + Missense_Mutation SNP T T G novel 7316-178 BS_ZMPNTK3D T T c.1217T>G p.Leu406Arg p.L406R ENST00000262719 1/17 83 70 12 61 60 1 PHLPP1,missense_variant,p.Leu406Arg,ENST00000262719,NM_194449.3;,regulatory_region_variant,,ENSR00000104398,; G ENSG00000081913 ENST00000262719 Transcript missense_variant 1451/6390 1217/5154 406/1717 L/R cTt/cGt 1 1 PHLPP1 HGNC HGNC:20610 protein_coding YES CCDS45881.2 ENSP00000262719 O60346 UPI000051AE2E NM_194449.3 tolerated_low_confidence(0.3) benign(0.02) 1/17 mobidb-lite MODERATE 1 SNV 1 PASS CTT . . 62716900 ZNF98 . GRCh38 chr19 22391705 22391705 + Missense_Mutation SNP C C A 7316-178 BS_ZMPNTK3D C C c.1530G>T p.Met510Ile p.M510I ENST00000357774 4/4 79 65 7 36 35 0 ZNF98,missense_variant,p.Met510Ile,ENST00000357774,NM_001098626.1;ZNF98,downstream_gene_variant,,ENST00000593657,; A ENSG00000197360 ENST00000357774 Transcript missense_variant 1652/2338 1530/1719 510/572 M/I atG/atT COSM5594125,COSM5594124,COSM287067,COSM287066 1 -1 ZNF98 HGNC HGNC:13174 protein_coding YES CCDS46031.1 ENSP00000350418 A6NK75 UPI0000251DC5 NM_001098626.1 tolerated(0.45) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1,1,1 MODERATE 1 SNV 1 1,1,1,1 PASS TCA . . 22391705 SHANK1 . GRCh38 chr19 50702595 50702612 + In_Frame_Del DEL GAGCCCCCGGGGCCCCCT GAGCCCCCGGGGCCCCCT - novel 7316-178 BS_ZMPNTK3D GAGCCCCCGGGGCCCCCT GAGCCCCCGGGGCCCCCT c.1602_1619del p.Gly535_Ser540del p.G535_S540del ENST00000293441 11/23 64 38 22 53 52 0 SHANK1,inframe_deletion,p.Gly535_Ser540del,ENST00000293441,NM_016148.3;SHANK1,inframe_deletion,p.Gly535_Ser540del,ENST00000391814,;SHANK1,inframe_deletion,p.Gly535_Ser540del,ENST00000359082,;SHANK1,downstream_gene_variant,,ENST00000461154,;,regulatory_region_variant,,ENSR00000111100,; - ENSG00000161681 ENST00000293441 Transcript inframe_deletion 1621-1638/6643 1602-1619/6486 534-540/2161 SGGPGGS/S tcAGGGGGCCCCGGGGGCTCc/tcc 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 11/23 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3,Gene3D:1.25.40.20,Superfamily_domains:SSF50044 MODERATE 1 deletion 1 1 PASS GGGAGCCCCCGGGGCCCCCTG . . 50702594 ZNF460 . GRCh38 chr19 57291307 57291307 + Missense_Mutation SNP G G C rs1228838398 7316-178 BS_ZMPNTK3D G G c.766G>C p.Glu256Gln p.E256Q ENST00000360338 3/3 81 69 10 59 57 1 ZNF460,missense_variant,p.Glu256Gln,ENST00000360338,NM_006635.3;ZNF460,missense_variant,p.Glu215Gln,ENST00000537645,;ZNF460,downstream_gene_variant,,ENST00000599602,;AC005261.5,downstream_gene_variant,,ENST00000623072,; C ENSG00000197714 ENST00000360338 Transcript missense_variant 1088/3350 766/1689 256/562 E/Q Gaa/Caa rs1228838398 1 1 ZNF460 HGNC HGNC:21628 protein_coding YES CCDS12949.1 ENSP00000353491 Q14592 UPI0000202D11 NM_006635.3 tolerated(0.05) benign(0.131) 3/3 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF15,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TGA . . 4.063e-06 0.0001825 57291307 SON . GRCh38 chr21 33551773 33551773 + Missense_Mutation SNP A A T novel 7316-178 BS_ZMPNTK3D A A c.2542A>T p.Thr848Ser p.T848S ENST00000356577 3/12 72 61 8 48 45 0 SON,missense_variant,p.Thr848Ser,ENST00000356577,NM_138927.2;SON,missense_variant,p.Thr848Ser,ENST00000381679,NM_001291411.1;SON,missense_variant,p.Thr848Ser,ENST00000300278,NM_032195.2;SON,intron_variant,,ENST00000381692,NM_001291412.1;SON,upstream_gene_variant,,ENST00000421541,;SON,upstream_gene_variant,,ENST00000436227,;MIR6501,downstream_gene_variant,,ENST00000290239,;SON,downstream_gene_variant,,ENST00000492229,;SON,missense_variant,p.Thr848Ser,ENST00000455528,; T ENSG00000159140 ENST00000356577 Transcript missense_variant 3017/8813 2542/7281 848/2426 T/S Acc/Tcc 1 1 SON HGNC HGNC:11183 protein_coding YES CCDS13629.1 ENSP00000348984 P18583 UPI0000140BFD NM_138927.2 tolerated_low_confidence(0.3) benign(0.056) 3/12 Superfamily_domains:SSF50978 MODERATE 1 SNV 1 1 PASS AAC . . 33551773 FOXO4 . GRCh38 chrX 71100852 71100852 + Missense_Mutation SNP C C T novel 7316-178 BS_ZMPNTK3D C C c.622C>T p.Arg208Cys p.R208C ENST00000374259 2/3 84 39 45 46 46 0 FOXO4,missense_variant,p.Arg208Cys,ENST00000374259,NM_005938.3;FOXO4,missense_variant,p.Arg153Cys,ENST00000341558,NM_001170931.1;CXorf65,downstream_gene_variant,,ENST00000374251,NM_001025265.2;FOXO4,downstream_gene_variant,,ENST00000464598,;FOXO4,downstream_gene_variant,,ENST00000466874,;CXorf65,downstream_gene_variant,,ENST00000438526,;CXorf65,downstream_gene_variant,,ENST00000466160,;AL590764.2,downstream_gene_variant,,ENST00000642473,;AL590764.2,downstream_gene_variant,,ENST00000644022,;AL590764.2,downstream_gene_variant,,ENST00000644708,;AL590764.2,downstream_gene_variant,,ENST00000644911,;AL590764.2,downstream_gene_variant,,ENST00000645266,;AL590764.2,downstream_gene_variant,,ENST00000645518,;AL590764.2,downstream_gene_variant,,ENST00000646106,;AL590764.2,downstream_gene_variant,,ENST00000646505,;AL590764.2,downstream_gene_variant,,ENST00000647492,; T ENSG00000184481 ENST00000374259 Transcript missense_variant 954/3301 622/1518 208/505 R/C Cgc/Tgc 1 1 FOXO4 HGNC HGNC:7139 protein_coding YES CCDS43969.1 ENSP00000363377 P98177 UPI00002122FA NM_005938.3 deleterious(0) probably_damaging(0.995) 2/3 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF188,mobidb-lite MODERATE 1 SNV 1 1 PASS CCG . . 71100852 ZNF678 . GRCh38 chr1 227655620 227655620 + Missense_Mutation SNP A A G rs753086507 7316-937 BS_SN2CD2FC A A c.1370A>G p.Glu457Gly p.E457G ENST00000343776 4/4 97 82 13 44 41 0 ZNF678,missense_variant,p.Glu457Gly,ENST00000343776,;ZNF678,missense_variant,p.Glu457Gly,ENST00000397097,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,NM_178549.3;ZNF678,downstream_gene_variant,,ENST00000465266,; G ENSG00000181450 ENST00000343776 Transcript missense_variant 1715/8556 1370/1578 457/525 E/G gAa/gGa rs753086507,COSM4744663,COSM349983 1 1 ZNF678 HGNC HGNC:28652 protein_coding YES ENSP00000344828 Q5SXM1 UPI000019862A tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF714,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GAA . . 227655620 ALMS1 . GRCh38 chr2 73448416 73448416 + Missense_Mutation SNP C C T novel 7316-937 BS_SN2CD2FC C C c.1889C>T p.Thr630Ile p.T630I ENST00000613296 8/23 96 89 6 38 35 0 ALMS1,missense_variant,p.Thr630Ile,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Thr588Ile,ENST00000484298,;ALMS1,missense_variant,p.Thr630Ile,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; T ENSG00000116127 ENST00000613296 Transcript missense_variant 2000/12925 1889/12507 630/4168 T/I aCt/aTt 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 tolerated(1) benign(0) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS ACT . . 73448416 ALMS1 . GRCh38 chr2 73450836 73450836 + Missense_Mutation SNP A A G rs764875294 7316-937 BS_SN2CD2FC A A c.4309A>G p.Ser1437Gly p.S1437G ENST00000613296 8/23 75 65 9 53 52 0 ALMS1,missense_variant,p.Ser1437Gly,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Ser1395Gly,ENST00000484298,;ALMS1,missense_variant,p.Ser1437Gly,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; G ENSG00000116127 ENST00000613296 Transcript missense_variant 4420/12925 4309/12507 1437/4168 S/G Agt/Ggt rs764875294 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 deleterious(0.01) benign(0.023) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS TAG . . 73450836 ALMS1 . GRCh38 chr2 73450837 73450837 + Missense_Mutation SNP G G T rs752146875 7316-937 BS_SN2CD2FC G G c.4310G>T p.Ser1437Ile p.S1437I ENST00000613296 8/23 75 67 7 54 53 0 ALMS1,missense_variant,p.Ser1437Ile,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Ser1395Ile,ENST00000484298,;ALMS1,missense_variant,p.Ser1437Ile,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; T ENSG00000116127 ENST00000613296 Transcript missense_variant 4421/12925 4310/12507 1437/4168 S/I aGt/aTt rs752146875 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 tolerated(1) benign(0) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS AGT . . 8.14e-06 0.000116 73450837 CYP4F27P . GRCh38 chr2 130048804 130048804 + Splice_Region SNP A A G rs1180409257 7316-937 BS_SN2CD2FC A A n.312T>C ENST00000514557 2/3 52 28 24 21 20 1 FAR2P1,intron_variant,,ENST00000325390,;CYP4F27P,splice_region_variant,,ENST00000514557,; G ENSG00000248313 ENST00000514557 Transcript splice_region_variant,non_coding_transcript_exon_variant 312/494 rs1180409257 1 -1 CYP4F27P HGNC HGNC:39946 unprocessed_pseudogene YES 2/3 LOW 1 SNV PASS CAT . . 130048804 ALPP . GRCh38 chr2 232380316 232380316 + Missense_Mutation SNP G G A rs2853378 7316-937 BS_SN2CD2FC G G c.788G>A p.Arg263His p.R263H ENST00000392027 6/11 97 64 27 42 38 0 ALPP,missense_variant,p.Arg263His,ENST00000392027,NM_001632.4;AC068134.1,intron_variant,,ENST00000439072,;AC068134.1,intron_variant,,ENST00000441266,;ALPP,downstream_gene_variant,,ENST00000474529,;ALPP,upstream_gene_variant,,ENST00000485563,; A ENSG00000163283 ENST00000392027 Transcript missense_variant 1057/2971 788/1608 263/535 R/H cGc/cAc rs2853378,COSM3732582 1 1 ALPP HGNC HGNC:439 protein_coding YES CCDS2490.1 ENSP00000375881 P05187 UPI0000131FF9 NM_001632.4 tolerated(0.63) benign(0.001) 6/11 PDB-ENSP_mappings:1ew2.A,PDB-ENSP_mappings:1zeb.A,PDB-ENSP_mappings:1zed.A,PDB-ENSP_mappings:1zef.A,PDB-ENSP_mappings:2glq.A,PDB-ENSP_mappings:3mk0.A,PDB-ENSP_mappings:3mk1.A,PDB-ENSP_mappings:3mk2.A,cd16012,hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF34,Pfam_domain:PF00245,Gene3D:3.40.720.10,SMART_domains:SM00098,Superfamily_domains:SSF53649 0.1000 0.0507 0.0605 0.2242 0.1004 0.0665 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.07913 0.04249 0.03718 0.04797 0.1972 0.06836 0.08782 0.08047 0.06753 232380316 HYAL3 . GRCh38 chr3 50295476 50295476 + Missense_Mutation SNP C C T rs1321607025 7316-937 BS_SN2CD2FC C C c.127G>A p.Glu43Lys p.E43K ENST00000336307 2/4 76 66 9 34 34 0 HYAL3,missense_variant,p.Glu43Lys,ENST00000336307,NM_003549.3;HYAL3,missense_variant,p.Glu43Lys,ENST00000621157,NM_001200029.1;HYAL3,missense_variant,p.Glu43Lys,ENST00000359051,;HYAL3,missense_variant,p.Glu43Lys,ENST00000450982,NM_001200030.1;HYAL3,missense_variant,p.Glu43Lys,ENST00000435141,;HYAL3,intron_variant,,ENST00000415204,NM_001200031.1;HYAL3,intron_variant,,ENST00000513170,NM_001200032.1;HYAL1,downstream_gene_variant,,ENST00000266031,;HYAL1,downstream_gene_variant,,ENST00000320295,NM_153281.1;NAA80,downstream_gene_variant,,ENST00000354862,NM_012191.3;HYAL1,downstream_gene_variant,,ENST00000395143,NM_153282.2;HYAL1,downstream_gene_variant,,ENST00000395144,NM_033159.3;NAA80,downstream_gene_variant,,ENST00000417393,NM_001200018.1;IFRD2,upstream_gene_variant,,ENST00000417626,NM_006764.4;IFRD2,upstream_gene_variant,,ENST00000436390,;NAA80,downstream_gene_variant,,ENST00000442620,;NAA80,downstream_gene_variant,,ENST00000443094,NM_001200016.1;NAA80,downstream_gene_variant,,ENST00000443842,;NAA80,downstream_gene_variant,,ENST00000450489,;NAA80,downstream_gene_variant,,ENST00000452674,;HYAL1,downstream_gene_variant,,ENST00000618175,;IFRD2,upstream_gene_variant,,ENST00000468737,;IFRD2,upstream_gene_variant,,ENST00000484043,;IFRD2,upstream_gene_variant,,ENST00000414734,;IFRD2,upstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000474556,;IFRD2,upstream_gene_variant,,ENST00000489569,; T ENSG00000186792 ENST00000336307 Transcript missense_variant 400/1942 127/1254 43/417 E/K Gag/Aag rs1321607025,COSM6213567 1 -1 HYAL3 HGNC HGNC:5322 protein_coding YES CCDS2815.1 ENSP00000337425 O43820 A0A024R2Y7 UPI000006E0AC NM_003549.3 tolerated(1) benign(0) 2/4 Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,PIRSF_domain:PIRSF500776,Prints_domain:PR00846,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF19,Superfamily_domains:SSF51445 0,1 MODERATE 1 SNV 1 0,1 PASS TCA . . 50295476 CFAP44 . GRCh38 chr3 113427297 113427297 + Missense_Mutation SNP T T C novel 7316-937 BS_SN2CD2FC T T c.143A>G p.Asp48Gly p.D48G ENST00000393845 3/35 78 35 42 40 40 0 CFAP44,missense_variant,p.Asp48Gly,ENST00000393845,NM_001164496.1;CFAP44,missense_variant,p.Asp48Gly,ENST00000295868,NM_018338.3;CFAP44,missense_variant,p.Asp48Gly,ENST00000473143,;MIR8076,downstream_gene_variant,,ENST00000611401,;CFAP44-AS1,intron_variant,,ENST00000498480,;CFAP44-AS1,downstream_gene_variant,,ENST00000473329,;CFAP44,intron_variant,,ENST00000479422,;CFAP44,intron_variant,,ENST00000488854,;CFAP44,intron_variant,,ENST00000489938,; C ENSG00000206530 ENST00000393845 Transcript missense_variant 210/7069 143/5565 48/1854 D/G gAt/gGt 1 -1 CFAP44 HGNC HGNC:25631 protein_coding YES CCDS54624.1 ENSP00000377428 Q96MT7 UPI0000367198 NM_001164496.1 tolerated_low_confidence(0.1) benign(0.001) 3/35 mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 1 PASS ATC . . 113427297 MUC4 . GRCh38 chr3 195786493 195786493 + Missense_Mutation SNP C C T rs79986529 7316-937 BS_SN2CD2FC C C c.5087G>A p.Arg1696His p.R1696H ENST00000463781 2/25 64 37 13 29 25 1 MUC4,missense_variant,p.Arg1696His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Arg1696His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Arg1696His,ENST00000478156,;MUC4,missense_variant,p.Arg1696His,ENST00000466475,;MUC4,missense_variant,p.Arg1696His,ENST00000477756,;MUC4,missense_variant,p.Arg1696His,ENST00000477086,;MUC4,missense_variant,p.Arg1696His,ENST00000480843,;MUC4,missense_variant,p.Arg1696His,ENST00000462323,;MUC4,missense_variant,p.Arg1696His,ENST00000470451,;MUC4,missense_variant,p.Arg1696His,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 5547/17110 5087/16239 1696/5412 R/H cGt/cAt rs79986529,COSM4593918,COSM4157848 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.03) possibly_damaging(0.517) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS ACG . . 0.1148 0.4159 0.1008 0.1159 0.001379 0.07282 0.1286 0.1408 0.06243 195786493 HARS . GRCh38 chr5 140676764 140676764 + Missense_Mutation SNP G G A rs751272874 7316-937 BS_SN2CD2FC G G c.1084C>T p.Arg362Cys p.R362C ENST00000504156 10/13 87 80 7 32 32 0 HARS,missense_variant,p.Arg293Cys,ENST00000504366,;HARS,missense_variant,p.Arg362Cys,ENST00000504156,NM_001289094.1,NM_002109.5;HARS,missense_variant,p.Arg362Cys,ENST00000644191,;HARS,missense_variant,p.Arg342Cys,ENST00000457527,NM_001258041.2;HARS,missense_variant,p.Arg322Cys,ENST00000438307,NM_001258040.2;HARS,missense_variant,p.Arg302Cys,ENST00000307633,NM_001258042.2;HARS,missense_variant,p.Arg248Cys,ENST00000431330,NM_001289093.1;HARS,missense_variant,p.Arg288Cys,ENST00000415192,NM_001289092.1;HARS,missense_variant,p.Arg252Cys,ENST00000507746,;WDR55,downstream_gene_variant,,ENST00000358337,NM_017706.4;DND1,upstream_gene_variant,,ENST00000542735,NM_194249.2;WDR55,downstream_gene_variant,,ENST00000520764,;HARS,3_prime_UTR_variant,,ENST00000643686,;HARS,3_prime_UTR_variant,,ENST00000645491,;HARS,3_prime_UTR_variant,,ENST00000512396,;HARS,3_prime_UTR_variant,,ENST00000646229,;HARS,non_coding_transcript_exon_variant,,ENST00000506579,;WDR55,downstream_gene_variant,,ENST00000504897,;WDR55,downstream_gene_variant,,ENST00000506393,;HARS,upstream_gene_variant,,ENST00000509087,;WDR55,downstream_gene_variant,,ENST00000511232,;HARS,downstream_gene_variant,,ENST00000518126,; A ENSG00000170445 ENST00000504156 Transcript missense_variant 1642/2440 1084/1530 362/509 R/C Cgc/Tgc rs751272874,COSM3239115,COSM3239114 1 -1 HARS HGNC HGNC:4816 protein_coding YES CCDS4237.1 ENSP00000425634 P12081 UPI00001364CE NM_001289094.1,NM_002109.5 deleterious(0) probably_damaging(1) 10/13 HAMAP:MF_00127,PROSITE_profiles:PS50862,cd00773,hmmpanther:PTHR11476,hmmpanther:PTHR11476:SF8,PIRSF_domain:PIRSF001549,Gene3D:3.30.930.10,TIGRFAM_domain:TIGR00442,Pfam_domain:PF13393,Superfamily_domains:SSF55681 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CGT . . 1.218e-05 5.956e-05 8.951e-06 140676764 PCDHA10 . GRCh38 chr5 140858150 140858150 + Missense_Mutation SNP C C T novel 7316-937 BS_SN2CD2FC C C c.2102C>T p.Ala701Val p.A701V ENST00000307360 1/4 66 30 35 36 35 0 PCDHA10,missense_variant,p.Ala701Val,ENST00000562220,NM_031859.2;PCDHA10,missense_variant,p.Ala701Val,ENST00000307360,NM_018901.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA5,intron_variant,,ENST00000529619,;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.4;,regulatory_region_variant,,ENSR00000317558,;PCDHA14,upstream_gene_variant,,ENST00000506751,; T ENSG00000250120 ENST00000307360 Transcript missense_variant 2102/5254 2102/2847 701/948 A/V gCc/gTc 1 1 PCDHA10 HGNC HGNC:8664 protein_coding YES CCDS54921.1 ENSP00000304234 Q9Y5I2 UPI00001273D3 NM_018901.3 deleterious_low_confidence(0) probably_damaging(0.951) 1/4 Transmembrane_helices:TMhelix,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF124 MODERATE 1 SNV 1 PASS GCC . . 140858150 MUC12 . GRCh38 chr7 100991652 100991652 + Missense_Mutation SNP G G C rs182707377 7316-937 BS_SN2CD2FC G G c.1089G>C p.Arg363Ser p.R363S ENST00000536621 2/12 100 81 18 29 29 0 MUC12,missense_variant,p.Arg506Ser,ENST00000379442,;MUC12,missense_variant,p.Arg363Ser,ENST00000536621,NM_001164462.1;,regulatory_region_variant,,ENSR00000327519,; C ENSG00000205277 ENST00000536621 Transcript missense_variant 1089/16321 1089/16008 363/5335 R/S agG/agC rs182707377,COSM4415456,COSM4415455 1 1 MUC12 HGNC HGNC:7510 protein_coding YES CCDS55139.1 ENSP00000441929 Q9UKN1 UPI0001B25898 NM_001164462.1 tolerated(1) benign(0) 2/12 mobidb-lite,hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF25 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GGA . . 0.2054 0.1906 0.1767 0.1461 0.3764 0.09202 0.2024 0.2061 0.1981 100991652 MUC17 . GRCh38 chr7 101033096 101033096 + Missense_Mutation SNP A A G rs1402148688 7316-937 BS_SN2CD2FC A A c.1680A>G p.Ile560Met p.I560M ENST00000306151 3/13 83 67 11 35 33 0 MUC17,missense_variant,p.Ile560Met,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile560Met,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 1744/14247 1680/13482 560/4493 I/M atA/atG rs1402148688,COSM6280216 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.66) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS TAC . . 101033096 KMT2C . GRCh38 chr7 152176927 152176928 + Frame_Shift_Ins INS - - T novel 7316-937 BS_SN2CD2FC - - c.8525dup p.Asn2842LysfsTer2 p.N2842Kfs*2 ENST00000262189 38/59 77 38 34 33 31 0 KMT2C,frameshift_variant,p.Asn2842LysfsTer2,ENST00000262189,NM_170606.2;KMT2C,frameshift_variant,p.Asn2842LysfsTer2,ENST00000355193,;KMT2C,frameshift_variant,p.Asn348LysfsTer2,ENST00000360104,;KMT2C,downstream_gene_variant,,ENST00000558665,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,; T ENSG00000055609 ENST00000262189 Transcript frameshift_variant 8744-8745/16862 8525-8526/14736 2842/4911 N/KX aat/aaAt 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 38/59 Gene3D:1.20.1000.10,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,mobidb-lite HIGH 1 insertion 1 1 PASS CAT . . 152176927 ZNF658 . GRCh38 chr9 66919560 66919560 + Missense_Mutation SNP G G A rs749733469 7316-937 BS_SN2CD2FC G G c.1994G>A p.Arg665Lys p.R665K ENST00000612867 5/5 49 38 9 23 21 0 ZNF658,missense_variant,p.Arg665Lys,ENST00000612867,NM_001317916.1;ZNF658,missense_variant,p.Arg665Lys,ENST00000621410,NM_033160.6;ZNF658,downstream_gene_variant,,ENST00000616544,;ZNF658,downstream_gene_variant,,ENST00000619925,;ZNF658,downstream_gene_variant,,ENST00000621015,;ZNF658,intron_variant,,ENST00000622180,; A ENSG00000274349 ENST00000612867 Transcript missense_variant 2294/4160 1994/3180 665/1059 R/K aGa/aAa rs749733469 1 1 ZNF658 HGNC HGNC:25226 protein_coding YES CCDS75846.1 ENSP00000482540 Q5TYW1 UPI000046D388 NM_001317916.1 tolerated(1) benign(0.022) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF668,hmmpanther:PTHR24377:SF668,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS AGA . . 66919560 PRPF18 . GRCh38 chr10 13613743 13613744 + Frame_Shift_Ins INS - - C novel 7316-937 BS_SN2CD2FC - - c.583dup p.Leu195ProfsTer7 p.L195Pfs*7 ENST00000378572 7/10 101 91 6 45 45 0 PRPF18,frameshift_variant,p.Leu195ProfsTer7,ENST00000378572,NM_003675.3;AL157392.5,frameshift_variant,p.Leu72ProfsTer7,ENST00000601460,;PRPF18,frameshift_variant,p.Leu189ProfsTer7,ENST00000417658,;PRPF18,downstream_gene_variant,,ENST00000320054,;AL157392.5,upstream_gene_variant,,ENST00000595538,;,regulatory_region_variant,,ENSR00000024682,;,regulatory_region_variant,,ENSR00000258255,; C ENSG00000165630 ENST00000378572 Transcript frameshift_variant 742-743/1717 582-583/1029 194-195/342 -/X -/C 1 1 PRPF18 HGNC HGNC:17351 protein_coding YES CCDS7100.1 ENSP00000367835 Q99633 UPI0000070C82 NM_003675.3 7/10 hmmpanther:PTHR13007,hmmpanther:PTHR13007:SF19,Pfam_domain:PF02840,Gene3D:1.20.940.10,Superfamily_domains:SSF47938 HIGH 1 insertion 1 1 PASS TTC . . 13613743 LYZL1 . GRCh38 chr10 29292013 29292013 + Splice_Region SNP C C T rs2209788 7316-937 BS_SN2CD2FC C C c.277+7C>T ENST00000375500 48 38 9 27 27 0 LYZL1,splice_region_variant,,ENST00000375500,NM_032517.4;LYZL1,splice_region_variant,,ENST00000494304,; T ENSG00000120563 ENST00000375500 Transcript splice_region_variant,intron_variant rs2209788,COSM5900543 1 1 LYZL1 HGNC HGNC:30502 protein_coding YES CCDS31174.1 ENSP00000364650 Q6UWQ5 A0A080YUZ8 UPI000013CA8C NM_032517.4 2/4 0.1248 0.0477 0.1945 0.1746 0.163 0.089 0,1 LOW 1 SNV 1 0,1 PASS ACT . . 0.04378 0.0229 0.0547 0.02971 0.1285 0.02417 0.0401 0.0514 0.03223 29292013 AGAP9 . GRCh38 chr10 47502781 47502781 + Missense_Mutation SNP T T C rs4013539 7316-937 BS_SN2CD2FC T T c.1348A>G p.Lys450Glu p.K450E ENST00000452145 8/8 89 75 13 44 44 0 AGAP9,missense_variant,p.Lys450Glu,ENST00000452145,NM_001190810.1;AL591684.1,downstream_gene_variant,,ENST00000434533,; C ENSG00000204172 ENST00000452145 Transcript missense_variant 1460/2387 1348/1977 450/658 K/E Aag/Gag rs4013539 1 -1 AGAP9 HGNC HGNC:23463 protein_coding YES CCDS73125.1 ENSP00000392206 Q5VTM2 UPI000019733B NM_001190810.1 tolerated(1) benign(0) 8/8 Gene3D:2.30.29.30,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF383,Superfamily_domains:SSF50729,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTG . . 47502781 MKI67 . GRCh38 chr10 128106946 128106946 + Missense_Mutation SNP G G A rs200229904 7316-937 BS_SN2CD2FC G G c.4894C>T p.Arg1632Trp p.R1632W ENST00000368654 13/15 96 54 39 47 46 0 MKI67,missense_variant,p.Arg1632Trp,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Arg1272Trp,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;MKI67,downstream_gene_variant,,ENST00000484853,; A ENSG00000148773 ENST00000368654 Transcript missense_variant 5270/12678 4894/9771 1632/3256 R/W Cgg/Tgg rs200229904 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 tolerated(0.23) benign(0.003) 13/15 Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295,mobidb-lite MODERATE 1 SNV 2 PASS CGT . . 6.502e-05 5.956e-05 0.0004638 3.586e-05 6.498e-05 128106946 AHNAK . GRCh38 chr11 62526496 62526496 + Missense_Mutation SNP C C T rs776120244 7316-937 BS_SN2CD2FC C C c.7921G>A p.Val2641Met p.V2641M ENST00000378024 5/5 89 79 9 35 35 0 AHNAK,missense_variant,p.Val2641Met,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 8196/18787 7921/17673 2641/5890 V/M Gtg/Atg rs776120244 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(1) benign(0.04) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 MODERATE 1 SNV 2 PASS ACC . . 4.075e-06 8.96e-06 62526496 OR10A7 . GRCh38 chr12 55221184 55221185 + Frame_Shift_Ins INS - - GTGGTCGCCGTAT rs1292573307 7316-937 BS_SN2CD2FC - - c.160_161insGTGGTCGCCGTAT p.Ala54GlyfsTer21 p.A54Gfs*21 ENST00000326258 1/1 99 81 11 33 33 0 OR10A7,frameshift_variant,p.Ala54GlyfsTer21,ENST00000326258,NM_001005280.1; GTGGTCGCCGTAT ENSG00000179919 ENST00000326258 Transcript frameshift_variant 160-161/951 160-161/951 54/316 A/GGRRIX gca/gGTGGTCGCCGTATca rs1292573307 1 1 OR10A7 HGNC HGNC:15329 protein_coding YES CCDS31815.1 ENSP00000326718 Q8NGE5 A0A126GVR3 UPI0000041E35 NM_001005280.1 1/1 PROSITE_profiles:PS50262,cd15225,hmmpanther:PTHR26453:SF22,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 HIGH 1 insertion PASS CGC . . 0.0001102 0.0004817 5.828e-05 3.597e-05 0.0005517 9.797e-05 55221184 OR10A7 . GRCh38 chr12 55221187 55221187 + Frame_Shift_Del DEL C C - rs1207958651 7316-937 BS_SN2CD2FC C C c.163del p.Leu55PhefsTer29 p.L55Ffs*29 ENST00000326258 1/1 96 81 11 34 34 0 OR10A7,frameshift_variant,p.Leu55PhefsTer29,ENST00000326258,NM_001005280.1; - ENSG00000179919 ENST00000326258 Transcript frameshift_variant 163/951 163/951 55/316 L/X Ctt/tt rs1207958651 1 1 OR10A7 HGNC HGNC:15329 protein_coding YES CCDS31815.1 ENSP00000326718 Q8NGE5 A0A126GVR3 UPI0000041E35 NM_001005280.1 1/1 PROSITE_profiles:PS50262,cd15225,hmmpanther:PTHR26453:SF22,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 HIGH 1 deletion PASS CACT . . 1.688e-05 6.335e-05 1.84e-05 55221186 SELPLG . GRCh38 chr12 108623569 108623569 + Missense_Mutation SNP T T C rs564877663 7316-937 BS_SN2CD2FC T T c.787A>G p.Thr263Ala p.T263A ENST00000228463 2/2 107 80 22 45 40 1 SELPLG,missense_variant,p.Thr247Ala,ENST00000550948,NM_003006.4;SELPLG,missense_variant,p.Thr263Ala,ENST00000228463,NM_001206609.1;SELPLG,missense_variant,p.Thr237Ala,ENST00000388962,; C ENSG00000110876 ENST00000228463 Transcript missense_variant 964/1704 787/1287 263/428 T/A Aca/Gca rs564877663,COSM5956729,COSM5956728 1 -1 SELPLG HGNC HGNC:10722 protein_coding YES CCDS55881.1 ENSP00000228463 Q14242 UPI0002065776 NM_001206609.1 tolerated(0.9) benign(0) 2/2 hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg 0.0002 0.0008 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GTG . . 108623569 RPGRIP1 . GRCh38 chr14 21325295 21325295 + Missense_Mutation SNP C C G novel 7316-937 BS_SN2CD2FC C C c.2279C>G p.Pro760Arg p.P760R ENST00000400017 15/24 93 50 41 41 40 0 RPGRIP1,missense_variant,p.Pro760Arg,ENST00000400017,NM_020366.3;RPGRIP1,missense_variant,p.Pro722Arg,ENST00000557771,;RPGRIP1,missense_variant,p.Pro235Arg,ENST00000555587,;RPGRIP1,intron_variant,,ENST00000382933,;RPGRIP1,intron_variant,,ENST00000556336,;RPGRIP1,downstream_gene_variant,,ENST00000554303,;RPGRIP1,downstream_gene_variant,,ENST00000557351,;RPGRIP1,upstream_gene_variant,,ENST00000557606,;RPGRIP1,non_coding_transcript_exon_variant,,ENST00000553500,;RPGRIP1,3_prime_UTR_variant,,ENST00000555322,;RPGRIP1,3_prime_UTR_variant,,ENST00000555489,;RPGRIP1,non_coding_transcript_exon_variant,,ENST00000553927,; G ENSG00000092200 ENST00000400017 Transcript missense_variant 2279/3940 2279/3861 760/1286 P/R cCc/cGc 1 1 RPGRIP1 HGNC HGNC:13436 protein_coding YES CCDS45080.1 ENSP00000382895 Q96KN7 UPI0000071B81 NM_020366.3 tolerated(0.48) benign(0) 15/24 hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF3 MODERATE 1 SNV 1 1 PASS CCC . . 21325295 TRAJ1 . GRCh38 chr14 22545059 22545065 + Frame_Shift_Del DEL TTGCAAT TTGCAAT - novel 7316-937 BS_SN2CD2FC TTGCAAT TTGCAAT c.26_32del p.Gln10AlafsTer? p.Q10Afs*? ENST00000390536 1/1 82 46 33 42 42 0 TRAJ1,frameshift_variant,p.Gln10AlafsTer?,ENST00000390536,;TRAJ5,downstream_gene_variant,,ENST00000390532,;TRAJ4,downstream_gene_variant,,ENST00000390533,;TRAJ3,downstream_gene_variant,,ENST00000390534,;TRAJ2,downstream_gene_variant,,ENST00000390535,;TRAC,upstream_gene_variant,,ENST00000611116,; - ENSG00000211888 ENST00000390536 Transcript frameshift_variant 23-29/62 25-31/64 9-11/21 LQF/X TTGCAATtt/tt 1 1 TRAJ1 HGNC HGNC:12037 TR_J_gene YES ENSP00000452565 A0A075B713 UPI00021CF15C 1/1 HIGH 1 deletion 3 PASS AGTTGCAATT . . 22545058 NPIPB2 . GRCh38 chr16 11927480 11927480 + Missense_Mutation SNP G G A rs565838037 7316-937 BS_SN2CD2FC G G c.1087C>T p.Pro363Ser p.P363S ENST00000399147 8/8 81 65 14 36 32 1 NPIPB2,missense_variant,p.Pro363Ser,ENST00000399147,;NPIPB2,downstream_gene_variant,,ENST00000538896,;NPIPB2,downstream_gene_variant,,ENST00000547494,;NPIPB2,downstream_gene_variant,,ENST00000620285,;NPIPB2,downstream_gene_variant,,ENST00000356023,;NPIPB2,downstream_gene_variant,,ENST00000540412,;AC007216.5,downstream_gene_variant,,ENST00000612457,; A ENSG00000234719 ENST00000399147 Transcript missense_variant 1087/1194 1087/1194 363/397 P/S Cca/Tca rs565838037,COSM5424618,COSM5424617,COSM4879857,COSM4879856 1 -1 NPIPB2 HGNC HGNC:37451 protein_coding YES ENSP00000382101 A6NJ64 A0A0A6YYH2 UPI000204A8FF tolerated_low_confidence(1) benign(0.01) 8/8 hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF5,mobidb-lite 0,1,1,1,1 MODERATE 1 SNV 5 0,1,1,1,1 PASS GGT . . 2.593e-05 0.0002561 8.875e-05 11927480 LINC00922 . GRCh38 chr16 65311537 65311547 + Splice_Region DEL GTAGGTGCAGG GTAGGTGCAGG - novel 7316-937 BS_SN2CD2FC GTAGGTGCAGG GTAGGTGCAGG n.686_696del ENST00000569736 8/9 84 77 7 40 40 0 LINC00922,splice_region_variant,,ENST00000569736,;LINC00922,splice_region_variant,,ENST00000564041,;AC009055.1,intron_variant,,ENST00000562656,;LINC00922,intron_variant,,ENST00000568492,; - ENSG00000261742 ENST00000569736 Transcript splice_region_variant,non_coding_transcript_exon_variant 686-696/1760 1 -1 LINC00922 HGNC HGNC:27545 lincRNA YES 8/9 LOW 1 deletion 1 PASS CTGTAGGTGCAGGC . . 65311536 SRCIN1 . GRCh38 chr17 38560096 38560096 + Missense_Mutation SNP C C G rs754457856 7316-937 BS_SN2CD2FC C C c.1795G>C p.Glu599Gln p.E599Q ENST00000617146 9/19 128 84 42 43 42 0 SRCIN1,missense_variant,p.Glu599Gln,ENST00000617146,NM_025248.2;SRCIN1,missense_variant,p.Glu633Gln,ENST00000621492,;SRCIN1,missense_variant,p.Glu387Gln,ENST00000622190,;SRCIN1,downstream_gene_variant,,ENST00000612431,;SRCIN1,splice_region_variant,,ENST00000621763,;SRCIN1,splice_region_variant,,ENST00000622519,;SRCIN1,upstream_gene_variant,,ENST00000612208,; G ENSG00000277363 ENST00000617146 Transcript missense_variant,splice_region_variant 2020/7058 1795/3552 599/1183 E/Q Gag/Cag rs754457856 1 -1 SRCIN1 HGNC HGNC:29506 protein_coding YES CCDS45660.1 ENSP00000484715 Q9C0H9 UPI0000E27F82 NM_025248.2 deleterious(0.03) possibly_damaging(0.775) 9/19 hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF5,mobidb-lite MODERATE 1 SNV 1 PASS TCG . . 1.36e-05 9.106e-05 38560096 ZNF626 . GRCh38 chr19 20624730 20624730 + Missense_Mutation SNP C C G 7316-937 BS_SN2CD2FC C C c.1147G>C p.Asp383His p.D383H ENST00000601440 4/4 78 60 8 32 31 0 ZNF626,missense_variant,p.Asp383His,ENST00000601440,NM_001076675.2;ZNF626,missense_variant,p.Asp383His,ENST00000612591,;ZNF626,downstream_gene_variant,,ENST00000595405,;AC010636.2,intron_variant,,ENST00000595094,; G ENSG00000188171 ENST00000601440 Transcript missense_variant 1294/5963 1147/1587 383/528 D/H Gac/Cac COSM5883071,COSM4280362 1 -1 ZNF626 HGNC HGNC:30461 protein_coding YES CCDS42535.1 ENSP00000469958 Q68DY1 UPI000035E843 NM_001076675.2 tolerated(0.65) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF129,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 4 1,1 PASS TCT . . 20624730 ZNF626 . GRCh38 chr19 20624813 20624813 + Missense_Mutation SNP G G T novel 7316-937 BS_SN2CD2FC G G c.1064C>A p.Thr355Asn p.T355N ENST00000601440 4/4 97 77 10 26 25 0 ZNF626,missense_variant,p.Thr355Asn,ENST00000601440,NM_001076675.2;ZNF626,missense_variant,p.Thr355Asn,ENST00000612591,;ZNF626,downstream_gene_variant,,ENST00000595405,;AC010636.2,intron_variant,,ENST00000595094,; T ENSG00000188171 ENST00000601440 Transcript missense_variant 1211/5963 1064/1587 355/528 T/N aCc/aAc 1 -1 ZNF626 HGNC HGNC:30461 protein_coding YES CCDS42535.1 ENSP00000469958 Q68DY1 UPI000035E843 NM_001076675.2 tolerated(0.64) benign(0.012) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF129,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS GGT . . 20624813 ZNF492 . GRCh38 chr19 22665021 22665021 + Missense_Mutation SNP A A G rs1835997 7316-937 BS_SN2CD2FC A A c.1352A>G p.Tyr451Cys p.Y451C ENST00000456783 4/4 44 35 8 23 22 0 ZNF492,missense_variant,p.Tyr451Cys,ENST00000456783,NM_020855.2;AC024563.1,downstream_gene_variant,,ENST00000601860,; G ENSG00000229676 ENST00000456783 Transcript missense_variant 1596/4245 1352/1596 451/531 Y/C tAt/tGt rs1835997,COSM4597116 1 1 ZNF492 HGNC HGNC:23707 protein_coding YES CCDS46032.1 ENSP00000413660 Q9P255 UPI00001C200B NM_020855.2 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS TAT . . 0.01031 0.05398 0.01071 0.003944 0.02496 0.001179 0.005756 0.01466 0.00904 22665021 ZNF728 . GRCh38 chr19 22975732 22975732 + Missense_Mutation SNP T T G rs186425609 7316-937 BS_SN2CD2FC T T c.1605A>C p.Gln535His p.Q535H ENST00000594710 4/4 73 55 11 34 30 0 ZNF728,missense_variant,p.Gln535His,ENST00000594710,NM_001267716.1;ZNF728,downstream_gene_variant,,ENST00000599851,; G ENSG00000269067 ENST00000594710 Transcript missense_variant 1751/2015 1605/1869 535/622 Q/H caA/caC rs186425609 1 -1 ZNF728 HGNC HGNC:32463 protein_coding YES CCDS59370.1 ENSP00000471593 P0DKX0 UPI0002656E4B NM_001267716.1 deleterious(0.03) benign(0) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,Superfamily_domains:SSF57667 0.0006 0.0029 0.001 MODERATE 1 SNV 3 PASS ATT . . 4.257e-06 3.085e-05 22975732 SLC7A9 . GRCh38 chr19 32868441 32868441 + Splice_Region SNP G G A rs372780148 7316-937 BS_SN2CD2FC G G c.87+7C>T ENST00000023064 58 23 35 41 41 0 SLC7A9,splice_region_variant,,ENST00000023064,NM_014270.4,NM_001243036.1,NM_001126335.1;SLC7A9,splice_region_variant,,ENST00000587772,;SLC7A9,splice_region_variant,,ENST00000590341,;SLC7A9,splice_region_variant,,ENST00000590465,;SLC7A9,splice_region_variant,,ENST00000592232,;SLC7A9,upstream_gene_variant,,ENST00000589659,; A ENSG00000021488 ENST00000023064 Transcript splice_region_variant,intron_variant rs372780148 1 -1 SLC7A9 HGNC HGNC:11067 protein_coding YES CCDS12425.1 ENSP00000023064 P82251 UPI0000037773 NM_014270.4,NM_001243036.1,NM_001126335.1 2/12 0.000227 LOW 1 SNV 1 1 PASS CGC . . 2.034e-05 5.799e-05 3.59e-05 32868441 RASIP1 . GRCh38 chr19 48735407 48735407 + Missense_Mutation SNP A A C novel 7316-937 BS_SN2CD2FC A A c.968T>G p.Leu323Trp p.L323W ENST00000222145 4/12 88 80 8 47 47 0 RASIP1,missense_variant,p.Leu323Trp,ENST00000222145,NM_017805.2;RASIP1,missense_variant,p.Leu69Trp,ENST00000599291,;RASIP1,non_coding_transcript_exon_variant,,ENST00000594232,;,regulatory_region_variant,,ENSR00000110764,; C ENSG00000105538 ENST00000222145 Transcript missense_variant 1173/3308 968/2892 323/963 L/W tTg/tGg 1 -1 RASIP1 HGNC HGNC:24716 protein_coding YES CCDS12731.1 ENSP00000222145 Q5U651 UPI000020283D NM_017805.2 deleterious(0) probably_damaging(0.945) 4/12 hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAA . . 48735407 ZNF845 . GRCh38 chr19 53351759 53351759 + Missense_Mutation SNP A A G rs1239350099 7316-937 BS_SN2CD2FC A A c.1084A>G p.Lys362Glu p.K362E ENST00000458035 4/4 89 70 14 27 25 0 ZNF845,missense_variant,p.Lys362Glu,ENST00000458035,NM_138374.2;ZNF845,missense_variant,p.Lys362Glu,ENST00000595091,NM_001321524.1,NM_001321523.1,NM_001321522.1; G ENSG00000213799 ENST00000458035 Transcript missense_variant 1204/6351 1084/2913 362/970 K/E Aaa/Gaa rs1239350099,COSM1305051 1 1 ZNF845 HGNC HGNC:25112 protein_coding YES CCDS46170.1 ENSP00000388311 Q96IR2 UPI0001662BAC NM_138374.2 deleterious(0.01) probably_damaging(0.917) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 4 0,1 PASS CAA . . 53351759 ZNF814 . GRCh38 chr19 57874048 57874048 + Missense_Mutation SNP C C T 7316-937 BS_SN2CD2FC C C c.1342G>A p.Glu448Lys p.E448K ENST00000435989 3/3 85 75 8 29 28 0 ZNF814,missense_variant,p.Glu448Lys,ENST00000435989,NM_001144989.1;ZNF814,splice_region_variant,,ENST00000614383,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,upstream_gene_variant,,ENST00000594159,;AC010326.2,downstream_gene_variant,,ENST00000602124,; T ENSG00000204514 ENST00000435989 Transcript missense_variant 1577/3146 1342/2568 448/855 E/K Gaa/Aaa COSM6566083 1 -1 ZNF814 HGNC HGNC:33258 protein_coding YES CCDS46212.1 ENSP00000410545 B7Z6K7 UPI0001662BAD NM_001144989.1 tolerated(0.68) benign(0) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF619,hmmpanther:PTHR24377:SF619,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS TCT . . 57874048 DYRK1A . GRCh38 chr21 37493107 37493107 + Missense_Mutation SNP G G A 7316-937 BS_SN2CD2FC G G c.1042G>A p.Gly348Arg p.G348R ENST00000339659 7/11 67 28 39 40 40 0 DYRK1A,missense_variant,p.Gly339Arg,ENST00000646548,NM_130436.2;DYRK1A,missense_variant,p.Gly348Arg,ENST00000339659,NM_001396.3;DYRK1A,missense_variant,p.Gly310Arg,ENST00000647504,NM_001347723.1;DYRK1A,missense_variant,p.Gly348Arg,ENST00000338785,NM_101395.2;DYRK1A,missense_variant,p.Gly348Arg,ENST00000644942,;DYRK1A,missense_variant,p.Gly339Arg,ENST00000643624,;DYRK1A,missense_variant,p.Gly339Arg,ENST00000647188,;DYRK1A,missense_variant,p.Gly348Arg,ENST00000398960,;DYRK1A,missense_variant,p.Gly339Arg,ENST00000647425,;DYRK1A,missense_variant,p.Gly348Arg,ENST00000646523,;DYRK1A,missense_variant,p.Gly355Arg,ENST00000645774,;DYRK1A,missense_variant,p.Gly310Arg,ENST00000642309,;DYRK1A,missense_variant,p.Gly348Arg,ENST00000645424,;DYRK1A,missense_variant,p.Gly348Arg,ENST00000398956,NM_130438.2;DYRK1A,missense_variant,p.Gly310Arg,ENST00000643854,;DYRK1A,non_coding_transcript_exon_variant,,ENST00000646224,;DYRK1A,non_coding_transcript_exon_variant,,ENST00000644367,;DYRK1A,non_coding_transcript_exon_variant,,ENST00000643808,;DYRK1A,downstream_gene_variant,,ENST00000643355,; A ENSG00000157540 ENST00000339659 Transcript missense_variant 2512/6607 1042/2292 348/763 G/R Ggg/Agg COSM1030613 1 1 DYRK1A HGNC HGNC:3091 protein_coding YES CCDS42925.1 ENSP00000340373 Q13627 UPI0000129A31 NM_001396.3 deleterious(0) probably_damaging(1) 7/11 Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF28,SMART_domains:SM00220,Superfamily_domains:SSF56112,cd14226 1 MODERATE 1 SNV 1 1 1 PASS CGG . . 37493107 PCNT . GRCh38 chr21 46334557 46334557 + Missense_Mutation SNP G G A rs58106867 7316-937 BS_SN2CD2FC G G c.428G>A p.Arg143His p.R143H ENST00000359568 3/47 67 51 15 34 32 1 PCNT,missense_variant,p.Arg143His,ENST00000359568,NM_001315529.1,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,non_coding_transcript_exon_variant,,ENST00000490468,; A ENSG00000160299 ENST00000359568 Transcript missense_variant 535/10560 428/10011 143/3336 R/H cGt/cAt rs58106867,COSM1165940 1 1 PCNT HGNC HGNC:16068 protein_coding YES CCDS33592.1 ENSP00000352572 O95613 UPI00001AEB88 NM_001315529.1,NM_006031.5 tolerated_low_confidence(0.18) benign(0.072) 3/47 likely_benign 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGT . . 46334557 SCUBE1 . GRCh38 chr22 43210082 43210082 + Missense_Mutation SNP C C T rs185454240 7316-937 BS_SN2CD2FC C C c.2542G>A p.Glu848Lys p.E848K ENST00000360835 19/22 94 51 41 43 43 0 SCUBE1,missense_variant,p.Glu848Lys,ENST00000360835,NM_173050.3;SCUBE1,intron_variant,,ENST00000615096,;Z82214.2,upstream_gene_variant,,ENST00000420269,; T ENSG00000159307 ENST00000360835 Transcript missense_variant 2669/9808 2542/2967 848/988 E/K Gag/Aag rs185454240 1 -1 SCUBE1 HGNC HGNC:13441 protein_coding YES CCDS14048.1 ENSP00000354080 Q8IWY4 UPI000020790F NM_173050.3 deleterious(0.03) probably_damaging(1) 19/22 Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4,SMART_domains:SM00042,Superfamily_domains:SSF49854,cd00041 0.0006 0.001 0.002 MODERATE 1 SNV 1 PASS TCG . . 4.491e-05 6.569e-05 8.961e-05 5.84e-05 1.803e-05 0.0001302 43210082 PRICKLE3 . GRCh38 chrX 49176177 49176177 + Missense_Mutation SNP C A A novel 7316-937 BS_SN2CD2FC C C c.1344G>T p.Glu448Asp p.E448D ENST00000599218 9/9 40 5 34 19 19 0 PRICKLE3,missense_variant,p.Glu448Asp,ENST00000599218,NM_006150.4;PRICKLE3,missense_variant,p.Glu380Asp,ENST00000453382,NM_001307979.1;PRICKLE3,downstream_gene_variant,,ENST00000376317,;PLP2,downstream_gene_variant,,ENST00000376322,;PLP2,downstream_gene_variant,,ENST00000376327,NM_002668.2;PRICKLE3,downstream_gene_variant,,ENST00000432913,;PRICKLE3,3_prime_UTR_variant,,ENST00000540849,;PRICKLE3,downstream_gene_variant,,ENST00000376310,;PRICKLE3,downstream_gene_variant,,ENST00000614014,; A ENSG00000012211 ENST00000599218 Transcript missense_variant 1439/2062 1344/1848 448/615 E/D gaG/gaT 1 -1 PRICKLE3 HGNC HGNC:6645 protein_coding YES CCDS14320.1 ENSP00000470248 O43900 A0A024QYW5 UPI000004B120 NM_006150.4 tolerated(0.27) benign(0.19) 9/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24211:SF19,hmmpanther:PTHR24211 MODERATE 1 SNV 1 PASS GCT . . 49176177 MAGEC1 . GRCh38 chrX 141907691 141907691 + Missense_Mutation SNP C C T rs1161618613 7316-937 BS_SN2CD2FC C C c.2287C>T p.Pro763Ser p.P763S ENST00000285879 4/4 39 30 7 17 17 0 MAGEC1,missense_variant,p.Pro763Ser,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; T ENSG00000155495 ENST00000285879 Transcript missense_variant 2573/4270 2287/3429 763/1142 P/S Cct/Tct rs1161618613,COSM3913485 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 deleterious_low_confidence(0) benign(0.235) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 141907691 DKC1 . GRCh38 chrX 154776814 154776816 + In_Frame_Del DEL AAG AAG - 7316-937 BS_SN2CD2FC AAG AAG c.1512_1514del p.Lys505del p.K505del ENST00000369550 15/15 40 30 5 13 13 0 DKC1,inframe_deletion,p.Lys505del,ENST00000369550,NM_001363.4,NM_001142463.2;DKC1,3_prime_UTR_variant,,ENST00000620277,NM_001288747.1;MPP1,downstream_gene_variant,,ENST00000369534,NM_002436.3,NM_001166460.1;MPP1,downstream_gene_variant,,ENST00000393531,NM_001166461.1;MPP1,downstream_gene_variant,,ENST00000413259,NM_001166462.1;MPP1,downstream_gene_variant,,ENST00000453245,;SNORA56,downstream_gene_variant,,ENST00000383966,;DKC1,non_coding_transcript_exon_variant,,ENST00000492372,;DKC1,downstream_gene_variant,,ENST00000475966,;DKC1,downstream_gene_variant,,ENST00000412124,;DKC1,downstream_gene_variant,,ENST00000426673,;MPP1,downstream_gene_variant,,ENST00000439370,;DKC1,downstream_gene_variant,,ENST00000481062,;MPP1,downstream_gene_variant,,ENST00000482757,;MPP1,downstream_gene_variant,,ENST00000491955,; - ENSG00000130826 ENST00000369550 Transcript inframe_deletion 1702-1704/2577 1492-1494/1545 498/514 K/- AAG/- COSM1466890 1 1 DKC1 HGNC HGNC:2890 protein_coding YES CCDS14761.1 ENSP00000358563 O60832 UPI00000325ED NM_001363.4,NM_001142463.2 15/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23127 1 MODERATE 1 deletion 1 20 1 1 PASS CCAAGA . . 154776813 VPS13D . GRCh38 chr1 12283141 12283141 + Missense_Mutation SNP A A T novel 7316-3023 BS_YKD3WYFB A A c.5039A>T p.Asn1680Ile p.N1680I ENST00000620676 21/70 72 42 29 49 47 0 VPS13D,missense_variant,p.Asn1680Ile,ENST00000620676,NM_015378.3;VPS13D,missense_variant,p.Asn1680Ile,ENST00000613099,NM_018156.3;VPS13D,missense_variant,p.Asn503Ile,ENST00000011700,;VPS13D,upstream_gene_variant,,ENST00000646917,; T ENSG00000048707 ENST00000620676 Transcript missense_variant 5204/16355 5039/13167 1680/4388 N/I aAt/aTt 1 1 VPS13D HGNC HGNC:23595 protein_coding YES CCDS30588.1 ENSP00000478104 Q5THJ4 UPI0000451CA9 NM_015378.3 deleterious(0) benign(0.436) 21/70 hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166 MODERATE 1 SNV 1 PASS AAT . . 12283141 CGN . GRCh38 chr1 151529896 151529913 + Splice_Site DEL GAACCGTCCTTAGGCTAA GAACCGTCCTTAGGCTAA - novel 7316-3023 BS_YKD3WYFB GAACCGTCCTTAGGCTAA GAACCGTCCTTAGGCTAA c.2107-11_2113del p.X703_splice ENST00000271636 12/21 77 50 27 41 41 0 CGN,splice_acceptor_variant,,ENST00000271636,NM_020770.2;RF00405,upstream_gene_variant,,ENST00000517031,;CGN,downstream_gene_variant,,ENST00000464886,;CGN,upstream_gene_variant,,ENST00000473377,; - ENSG00000143375 ENST00000271636 Transcript splice_acceptor_variant,coding_sequence_variant,intron_variant ?-2244/5091 ?-2111/3612 ?-704/1203 1 1 CGN HGNC HGNC:17429 protein_coding YES CCDS999.1 ENSP00000271636 Q9P2M7 UPI0000161C1E NM_020770.2 12/21 11/20 HIGH 1 deletion 1 2 PASS CTGAACCGTCCTTAGGCTAAG . . 151529895 TCHH . GRCh38 chr1 152109781 152109781 + Missense_Mutation SNP C C G rs369695249 7316-3023 BS_YKD3WYFB C C c.3436G>C p.Val1146Leu p.V1146L ENST00000614923 3/3 56 41 9 28 22 0 TCHH,missense_variant,p.Val1146Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Val1146Leu,ENST00000368804,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 3531/6995 3436/5832 1146/1943 V/L Gtg/Ctg rs369695249,COSM3773430 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.66) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS ACC . . 0.001117 0.00133 0.002694 0.0007928 0.004157 0.0001843 0.0004488 0.0004658 0.001774 152109781 TMEM79 . GRCh38 chr1 156285317 156285317 + Missense_Mutation SNP C C T rs142113954 7316-3023 BS_YKD3WYFB C C c.91C>T p.Arg31Trp p.R31W ENST00000405535 2/4 86 80 6 43 43 0 TMEM79,missense_variant,p.Arg31Trp,ENST00000405535,NM_032323.2;TMEM79,missense_variant,p.Arg31Trp,ENST00000295694,;TMEM79,intron_variant,,ENST00000357501,;TMEM79,intron_variant,,ENST00000456810,;SMG5,upstream_gene_variant,,ENST00000361813,NM_001323614.1,NM_001323617.1,NM_001323616.1,NM_001323615.1,NM_015327.2;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,;TMEM79,intron_variant,,ENST00000463670,;TMEM79,upstream_gene_variant,,ENST00000485135,;GLMP,downstream_gene_variant,,ENST00000497831,;GLMP,downstream_gene_variant,,ENST00000461597,; T ENSG00000163472 ENST00000405535 Transcript missense_variant 262/2201 91/1185 31/394 R/W Cgg/Tgg rs142113954,COSM6804315 1 1 TMEM79 HGNC HGNC:28196 protein_coding YES CCDS1138.1 ENSP00000384748 Q9BSE2 UPI000006F977 NM_032323.2 deleterious_low_confidence(0.01) benign(0.431) 2/4 hmmpanther:PTHR31004,mobidb-lite 0.0008 0.0041 0.0004539 0.0001163 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 0.000204 7.445e-05 2.093e-05 0.00167 156285317 IFI16 . GRCh38 chr1 159015880 159015880 + Missense_Mutation SNP C C A novel 7316-3023 BS_YKD3WYFB C C c.274C>A p.Pro92Thr p.P92T ENST00000368131 3/11 72 65 6 40 40 0 IFI16,missense_variant,p.Pro92Thr,ENST00000295809,;IFI16,missense_variant,p.Pro92Thr,ENST00000368131,NM_005531.2;IFI16,missense_variant,p.Pro92Thr,ENST00000368132,;IFI16,missense_variant,p.Pro92Thr,ENST00000359709,NM_001206567.1;IFI16,missense_variant,p.Pro92Thr,ENST00000448393,;IFI16,missense_variant,p.Pro92Thr,ENST00000447473,;IFI16,missense_variant,p.Pro92Thr,ENST00000426592,;IFI16,5_prime_UTR_variant,,ENST00000340979,;IFI16,5_prime_UTR_variant,,ENST00000474473,;IFI16,5_prime_UTR_variant,,ENST00000567661,;IFI16,downstream_gene_variant,,ENST00000566111,;IFI16,non_coding_transcript_exon_variant,,ENST00000483916,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,; A ENSG00000163565 ENST00000368131 Transcript missense_variant 564/2734 274/2190 92/729 P/T Cca/Aca 1 1 IFI16 HGNC HGNC:5395 protein_coding YES CCDS1180.3 ENSP00000357113 Q16666 UPI00001412C9 NM_005531.2 tolerated(0.57) benign(0) 3/11 mobidb-lite,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF5,Gene3D:1.10.533.10 MODERATE 1 SNV 1 PASS ACC . . 159015880 IGSF9 . GRCh38 chr1 159943146 159943146 + Missense_Mutation SNP C C T rs1476703474 7316-3023 BS_YKD3WYFB C C c.64G>A p.Gly22Arg p.G22R ENST00000368094 3/21 71 65 6 47 46 0 IGSF9,missense_variant,p.Gly22Arg,ENST00000368094,NM_001135050.1;IGSF9,missense_variant,p.Gly22Arg,ENST00000361509,NM_020789.3;IGSF9,missense_variant,p.Gly22Arg,ENST00000611023,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,; T ENSG00000085552 ENST00000368094 Transcript missense_variant 262/4044 64/3540 22/1179 G/R Ggg/Agg rs1476703474 1 -1 IGSF9 HGNC HGNC:18132 protein_coding YES CCDS44254.1 ENSP00000357073 Q9P2J2 UPI000004A10B NM_001135050.1 tolerated(0.33) benign(0) 3/21 hmmpanther:PTHR44248,hmmpanther:PTHR44248:SF2 MODERATE 1 SNV 1 PASS CCT . . 159943146 TBX19 . GRCh38 chr1 168312944 168312944 + Missense_Mutation SNP C C T rs189380651 7316-3023 BS_YKD3WYFB C C c.1289C>T p.Ala430Val p.A430V ENST00000367821 8/8 78 65 13 36 36 0 TBX19,missense_variant,p.Ala430Val,ENST00000367821,NM_005149.2;TBX19,missense_variant,p.Ala300Val,ENST00000431969,;TBX19,missense_variant,p.Ala263Val,ENST00000441464,;TBX19,non_coding_transcript_exon_variant,,ENST00000465440,;AL022100.1,upstream_gene_variant,,ENST00000636624,; T ENSG00000143178 ENST00000367821 Transcript missense_variant 1340/2822 1289/1347 430/448 A/V gCg/gTg rs189380651,COSM6356331,COSM6356330 1 1 TBX19 HGNC HGNC:11596 protein_coding YES CCDS1272.1 ENSP00000356795 O60806 UPI000003176C NM_005149.2 tolerated_low_confidence(0.07) benign(0.005) 8/8 Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS GCG . . 5.289e-05 8.935e-05 0.0001017 7.183e-05 3.249e-05 168312944 PTGS2 . GRCh38 chr1 186677795 186677795 + Nonsense_Mutation SNP C C A 7316-3023 BS_YKD3WYFB C C c.493G>T p.Glu165Ter p.E165* ENST00000367468 5/10 80 46 34 41 41 0 PTGS2,stop_gained,p.Glu165Ter,ENST00000367468,NM_000963.3;PACERR,upstream_gene_variant,,ENST00000608917,;PTGS2,non_coding_transcript_exon_variant,,ENST00000490885,;PTGS2,upstream_gene_variant,,ENST00000466691,;PTGS2,downstream_gene_variant,,ENST00000559800,;PTGS2,intron_variant,,ENST00000559627,; A ENSG00000073756 ENST00000367468 Transcript stop_gained 630/4514 493/1815 165/604 E/* Gaa/Taa COSM1689433,COSM1689432 1 -1 PTGS2 HGNC HGNC:9605 protein_coding YES CCDS1371.1 ENSP00000356438 P35354 UPI000000D926 NM_000963.3 5/10 Gene3D:1.10.640.10,PDB-ENSP_mappings:5f19.A,PDB-ENSP_mappings:5f19.B,PDB-ENSP_mappings:5f1a.A,PDB-ENSP_mappings:5f1a.B,PDB-ENSP_mappings:5ikq.A,PDB-ENSP_mappings:5ikq.B,PDB-ENSP_mappings:5ikr.A,PDB-ENSP_mappings:5ikr.B,PDB-ENSP_mappings:5ikt.A,PDB-ENSP_mappings:5ikt.B,PDB-ENSP_mappings:5ikv.A,PDB-ENSP_mappings:5ikv.B,PDB-ENSP_mappings:5kir.A,PDB-ENSP_mappings:5kir.B,PROSITE_profiles:PS50292,hmmpanther:PTHR11903,hmmpanther:PTHR11903:SF8,Superfamily_domains:SSF48113,cd09816 1,1 HIGH 1 SNV 1 1,1 PASS TCC . . 186677795 GJC2 . GRCh38 chr1 228158780 228158780 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.1022A>C p.Glu341Ala p.E341A ENST00000366714 2/2 49 41 6 15 15 0 GJC2,missense_variant,p.Glu341Ala,ENST00000366714,NM_020435.3;,regulatory_region_variant,,ENSR00000021271,; C ENSG00000198835 ENST00000366714 Transcript missense_variant 1197/2243 1022/1320 341/439 E/A gAg/gCg 1 1 GJC2 HGNC HGNC:17494 protein_coding YES CCDS1569.1 ENSP00000355675 Q5T442 UPI000034ECE8 NM_020435.3 deleterious(0.04) benign(0.039) 2/2 hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF52 MODERATE 1 SNV 1 1 PASS GAG . . 228158780 CAPN9 . GRCh38 chr1 230755397 230755397 + Missense_Mutation SNP G G A 7316-3023 BS_YKD3WYFB G G c.274G>A p.Gly92Arg p.G92R ENST00000271971 2/20 78 46 32 49 49 0 CAPN9,missense_variant,p.Gly92Arg,ENST00000354537,NM_016452.2;CAPN9,missense_variant,p.Gly92Arg,ENST00000271971,NM_006615.2;CAPN9,intron_variant,,ENST00000366666,NM_001319676.1;AL512328.1,intron_variant,,ENST00000412344,; A ENSG00000135773 ENST00000271971 Transcript missense_variant 387/2362 274/2073 92/690 G/R Gga/Aga COSM4539883,COSM4539882 1 1 CAPN9 HGNC HGNC:1486 protein_coding YES CCDS1586.1 ENSP00000271971 O14815 UPI000006E882 NM_006615.2 deleterious(0) probably_damaging(1) 2/20 cd00044,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF385,PROSITE_patterns:PS00139,Prints_domain:PR00704 1,1 MODERATE 1 SNV 1 1,1 PASS GGG . . 230755397 STON1-GTF2A1L . GRCh38 chr2 48642426 48642426 + Frame_Shift_Del DEL G G - novel 7316-3023 BS_YKD3WYFB G G c.2384del p.Arg795LysfsTer33 p.R795Kfs*33 ENST00000394754 6/11 70 39 28 43 43 0 STON1-GTF2A1L,frameshift_variant,p.Arg795LysfsTer33,ENST00000394754,NM_172311.2;STON1-GTF2A1L,frameshift_variant,p.Arg795LysfsTer33,ENST00000405008,;STON1-GTF2A1L,frameshift_variant,p.Arg795LysfsTer33,ENST00000402114,NM_001198593.1;GTF2A1L,frameshift_variant,p.Arg91LysfsTer33,ENST00000403751,NM_006872.4;GTF2A1L,frameshift_variant,p.Arg57LysfsTer33,ENST00000430487,NM_001193487.2;GTF2A1L,frameshift_variant,p.Arg100LysfsTer33,ENST00000437125,;GTF2A1L,frameshift_variant,p.Arg57LysfsTer33,ENST00000448460,;STON1-GTF2A1L,intron_variant,,ENST00000394751,NM_001198594.1;GTF2A1L,non_coding_transcript_exon_variant,,ENST00000468326,;GTF2A1L,3_prime_UTR_variant,,ENST00000423675,;AC073082.1,intron_variant,,ENST00000602369,; - ENSG00000068781 ENST00000394754 Transcript frameshift_variant 2498/3824 2384/3549 795/1182 R/X aGa/aa 1 1 STON1-GTF2A1L HGNC HGNC:30651 protein_coding YES CCDS1840.1 ENSP00000378236 Q53S48 UPI000013C976 NM_172311.2 6/11 hmmpanther:PTHR12694:SF9,hmmpanther:PTHR12694,Pfam_domain:PF03153,SMART_domains:SM01371 HIGH 1 deletion 1 PASS TAGA . . 48642425 EVA1A . GRCh38 chr2 75493598 75493598 + Nonsense_Mutation SNP G G A rs1223878260 7316-3023 BS_YKD3WYFB G G c.97C>T p.Arg33Ter p.R33* ENST00000233712 4/4 73 67 6 29 29 0 EVA1A,stop_gained,p.Arg33Ter,ENST00000233712,NM_032181.2;EVA1A,stop_gained,p.Arg33Ter,ENST00000393913,NM_001135032.1;EVA1A,stop_gained,p.Arg33Ter,ENST00000410113,;EVA1A,stop_gained,p.Arg33Ter,ENST00000410071,;EVA1A,stop_gained,p.Arg21Ter,ENST00000410010,;EVA1A,stop_gained,p.Arg33Ter,ENST00000432649,;EVA1A,stop_gained,p.Arg33Ter,ENST00000452003,;RF01233,downstream_gene_variant,,ENST00000459339,;EVA1A,intron_variant,,ENST00000485891,;EVA1A,intron_variant,,ENST00000490746,; A ENSG00000115363 ENST00000233712 Transcript stop_gained 535/1815 97/459 33/152 R/* Cga/Tga rs1223878260 1 -1 EVA1A HGNC HGNC:25816 protein_coding YES CCDS1959.1 ENSP00000233712 Q9H8M9 UPI0000071E24 NM_032181.2 4/4 Pfam_domain:PF14851,hmmpanther:PTHR45242 HIGH 1 SNV 2 PASS CGC . . 75493598 TMEM177 . GRCh38 chr2 119681760 119681760 + Missense_Mutation SNP A A G novel 7316-3023 BS_YKD3WYFB A A c.907A>G p.Arg303Gly p.R303G ENST00000424086 2/2 85 77 7 42 42 0 TMEM177,missense_variant,p.Arg303Gly,ENST00000424086,NM_001105198.1;TMEM177,missense_variant,p.Arg303Gly,ENST00000272521,NM_030577.2;TMEM177,missense_variant,p.Arg303Gly,ENST00000401466,NM_001105199.1;TMEM177,intron_variant,,ENST00000409951,;TMEM177,downstream_gene_variant,,ENST00000445518,;TMEM177,intron_variant,,ENST00000496203,; G ENSG00000144120 ENST00000424086 Transcript missense_variant 1380/1738 907/936 303/311 R/G Agg/Ggg 1 1 TMEM177 HGNC HGNC:28143 protein_coding YES CCDS2128.1 ENSP00000402661 Q53S58 UPI000013D95F NM_001105198.1 deleterious(0) benign(0.006) 2/2 hmmpanther:PTHR21824,hmmpanther:PTHR21824:SF4 MODERATE 1 SNV 2 PASS GAG . . 119681760 TMEM177 . GRCh38 chr2 119681761 119681761 + Missense_Mutation SNP G G T novel 7316-3023 BS_YKD3WYFB G G c.908G>T p.Arg303Met p.R303M ENST00000424086 2/2 86 79 7 42 42 0 TMEM177,missense_variant,p.Arg303Met,ENST00000424086,NM_001105198.1;TMEM177,missense_variant,p.Arg303Met,ENST00000272521,NM_030577.2;TMEM177,missense_variant,p.Arg303Met,ENST00000401466,NM_001105199.1;TMEM177,intron_variant,,ENST00000409951,;TMEM177,downstream_gene_variant,,ENST00000445518,;TMEM177,intron_variant,,ENST00000496203,; T ENSG00000144120 ENST00000424086 Transcript missense_variant 1381/1738 908/936 303/311 R/M aGg/aTg 1 1 TMEM177 HGNC HGNC:28143 protein_coding YES CCDS2128.1 ENSP00000402661 Q53S58 UPI000013D95F NM_001105198.1 deleterious(0) possibly_damaging(0.785) 2/2 hmmpanther:PTHR21824,hmmpanther:PTHR21824:SF4 MODERATE 1 SNV 2 PASS AGG . . 119681761 PPIG . GRCh38 chr2 169606140 169606140 + Missense_Mutation SNP A A T novel 7316-3023 BS_YKD3WYFB A A c.238A>T p.Ser80Cys p.S80C ENST00000260970 5/14 66 38 27 25 25 0 PPIG,missense_variant,p.Ser80Cys,ENST00000260970,NM_004792.2;PPIG,missense_variant,p.Ser80Cys,ENST00000409714,;PPIG,missense_variant,p.Ser80Cys,ENST00000448752,;PPIG,missense_variant,p.Ser80Cys,ENST00000462903,;PPIG,missense_variant,p.Ser76Cys,ENST00000433207,;PPIG,missense_variant,p.Ser80Cys,ENST00000414307,;PPIG,downstream_gene_variant,,ENST00000418888,;PPIG,non_coding_transcript_exon_variant,,ENST00000530152,;PPIG,synonymous_variant,p.Ser58=,ENST00000417938,; T ENSG00000138398 ENST00000260970 Transcript missense_variant 458/6368 238/2265 80/754 S/C Agt/Tgt 1 1 PPIG HGNC HGNC:14650 protein_coding YES CCDS2235.1 ENSP00000260970 Q13427 UPI000013D124 NM_004792.2 deleterious(0) probably_damaging(0.998) 5/14 Gene3D:2.40.100.10,Pfam_domain:PF00160,PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF292,Superfamily_domains:SSF50891 MODERATE 1 SNV 1 PASS CAG . . 169606140 ZNF852 . GRCh38 chr3 44500458 44500458 + Missense_Mutation SNP C C A novel 7316-3023 BS_YKD3WYFB C C c.319G>T p.Gly107Trp p.G107W ENST00000436261 4/4 37 12 25 33 33 0 ZNF852,missense_variant,p.Gly107Trp,ENST00000436261,NM_001287349.1;ZNF852,non_coding_transcript_exon_variant,,ENST00000489411,;ZNF852,non_coding_transcript_exon_variant,,ENST00000463067,; A ENSG00000178917 ENST00000436261 Transcript missense_variant 480/1968 319/1632 107/543 G/W Ggg/Tgg 1 -1 ZNF852 HGNC HGNC:27713 protein_coding YES ENSP00000389841 Q6ZMS4 UPI000198C97D NM_001287349.1 deleterious(0.01) probably_damaging(0.996) 4/4 hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF682 MODERATE 1 SNV 2 PASS CCT . . 44500458 SEMA5B . GRCh38 chr3 122913650 122913650 + Missense_Mutation SNP G G T novel 7316-3023 BS_YKD3WYFB G G c.2326C>A p.Pro776Thr p.P776T ENST00000451055 16/23 106 97 8 29 29 0 SEMA5B,missense_variant,p.Pro722Thr,ENST00000616742,NM_001256346.1;SEMA5B,missense_variant,p.Pro722Thr,ENST00000357599,NM_001031702.3;SEMA5B,missense_variant,p.Pro776Thr,ENST00000451055,NM_001256347.1;SEMA5B,missense_variant,p.Pro664Thr,ENST00000195173,NM_001256348.1;SEMA5B,missense_variant,p.Pro722Thr,ENST00000393583,;SEMA5B,upstream_gene_variant,,ENST00000451541,;SEMA5B,missense_variant,p.Pro722Thr,ENST00000475244,;,regulatory_region_variant,,ENSR00000157374,; T ENSG00000082684 ENST00000451055 Transcript missense_variant 2337/4579 2326/3618 776/1205 P/T Ccc/Acc 1 -1 SEMA5B HGNC HGNC:10737 protein_coding YES CCDS58848.1 ENSP00000389588 Q9P283 UPI0002065011 NM_001256347.1 deleterious(0.04) possibly_damaging(0.759) 16/23 Gene3D:2.20.100.10,PROSITE_profiles:PS50092,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF39,Superfamily_domains:SSF82895 MODERATE 1 SNV 2 PASS GGC . . 122913650 MBD4 . GRCh38 chr3 129436868 129436874 + Frame_Shift_Del DEL TGAACAA TGAACAA - novel 7316-3023 BS_YKD3WYFB TGAACAA TGAACAA c.770_776del p.Phe257Ter p.F257* ENST00000249910 3/8 66 59 5 43 42 0 MBD4,frameshift_variant,p.Phe257Ter,ENST00000429544,NM_001276270.1;MBD4,frameshift_variant,p.Phe257Ter,ENST00000249910,NM_003925.2;MBD4,frameshift_variant,p.Phe257Ter,ENST00000507208,NM_001276271.1;MBD4,frameshift_variant,p.Phe257Ter,ENST00000503197,NM_001276272.1;MBD4,intron_variant,,ENST00000393278,NM_001276273.1;IFT122,upstream_gene_variant,,ENST00000296266,NM_052985.3;IFT122,upstream_gene_variant,,ENST00000347300,NM_018262.3;IFT122,upstream_gene_variant,,ENST00000348417,NM_052989.2;IFT122,upstream_gene_variant,,ENST00000349441,NM_052990.2;IFT122,upstream_gene_variant,,ENST00000431818,NM_001280545.1;IFT122,upstream_gene_variant,,ENST00000440957,NM_001280546.1;IFT122,upstream_gene_variant,,ENST00000504021,;IFT122,upstream_gene_variant,,ENST00000507564,NM_001280541.1;MBD4,intron_variant,,ENST00000509587,;MBD4,downstream_gene_variant,,ENST00000505883,;MBD4,intron_variant,,ENST00000509828,;MBD4,upstream_gene_variant,,ENST00000511009,;IFT122,upstream_gene_variant,,ENST00000512220,;MBD4,upstream_gene_variant,,ENST00000515266,; - ENSG00000129071 ENST00000249910 Transcript frameshift_variant 946-952/2470 770-776/1743 257-259/580 FVQ/X tTTGTTCAa/ta 1 -1 MBD4 HGNC HGNC:6919 protein_coding YES CCDS3058.1 ENSP00000249910 O95243 UPI0000073E6A NM_003925.2 3/8 hmmpanther:PTHR15074:SF6,hmmpanther:PTHR15074,Gene3D:3.30.890.10,PIRSF_domain:PIRSF038005 HIGH 1 deletion 1 PASS TTTGAACAAA . . 129436867 MUC20-OT1 . GRCh38 chr3 195661843 195661844 + Splice_Region INS - - A rs772201907 7316-3023 BS_YKD3WYFB - - n.175+4dup ENST00000445430 37 26 7 10 10 0 MUC20-OT1,splice_region_variant,,ENST00000425425,;MUC20-OT1,splice_region_variant,,ENST00000429897,;MUC20-OT1,splice_region_variant,,ENST00000445430,;MUC20-OT1,splice_region_variant,,ENST00000452844,;MUC20-OT1,splice_region_variant,,ENST00000453324,;MUC20-OT1,splice_region_variant,,ENST00000457233,;AC233280.1,upstream_gene_variant,,ENST00000423600,;SDHAP2,splice_region_variant,,ENST00000455183,; A ENSG00000242086 ENST00000445430 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs772201907 1 1 MUC20-OT1 HGNC HGNC:53807 lincRNA YES 2/13 LOW 1 insertion 1 2 PASS GTA . . 195661843 MUC4 . GRCh38 chr3 195781307 195781307 + Missense_Mutation SNP G G C rs201253018 7316-3023 BS_YKD3WYFB G G c.10273C>G p.Leu3425Val p.L3425V ENST00000463781 2/25 56 33 15 25 20 0 MUC4,missense_variant,p.Leu3425Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Leu3425Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Leu3425Val,ENST00000478156,;MUC4,missense_variant,p.Leu3425Val,ENST00000466475,;MUC4,missense_variant,p.Leu3425Val,ENST00000477756,;MUC4,missense_variant,p.Leu3425Val,ENST00000477086,;MUC4,missense_variant,p.Leu3425Val,ENST00000480843,;MUC4,missense_variant,p.Leu3425Val,ENST00000462323,;MUC4,missense_variant,p.Leu3425Val,ENST00000470451,;MUC4,missense_variant,p.Leu3425Val,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 10733/17110 10273/16239 3425/5412 L/V Ctt/Gtt rs201253018,COSM3774072 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(1) benign(0.374) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS AGA . . 0.000225 0.001172 0.0003025 9.619e-05 6.293e-05 0.0001935 0.0002629 0.0001401 195781307 MUC4 . GRCh38 chr3 195782885 195782885 + Missense_Mutation SNP G G C rs28750097 7316-3023 BS_YKD3WYFB G G c.8695C>G p.Leu2899Val p.L2899V ENST00000463781 2/25 65 45 14 27 23 0 MUC4,missense_variant,p.Leu2899Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Leu2899Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Leu2899Val,ENST00000478156,;MUC4,missense_variant,p.Leu2899Val,ENST00000466475,;MUC4,missense_variant,p.Leu2899Val,ENST00000477756,;MUC4,missense_variant,p.Leu2899Val,ENST00000477086,;MUC4,missense_variant,p.Leu2899Val,ENST00000480843,;MUC4,missense_variant,p.Leu2899Val,ENST00000462323,;MUC4,missense_variant,p.Leu2899Val,ENST00000470451,;MUC4,missense_variant,p.Leu2899Val,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 9155/17110 8695/16239 2899/5412 L/V Ctc/Gtc rs28750097,COSM4157674 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.36) benign(0.374) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS AGA . . 195782885 ANAPC4 . GRCh38 chr4 25409794 25409794 + Splice_Region SNP A A T novel 7316-3023 BS_YKD3WYFB A A c.1528+3A>T ENST00000510092 68 42 25 28 27 0 ANAPC4,splice_region_variant,,ENST00000315368,NM_013367.2;ANAPC4,splice_region_variant,,ENST00000510092,NM_001286756.1;ANAPC4,splice_region_variant,,ENST00000504256,;ANAPC4,splice_region_variant,,ENST00000505842,;ANAPC4,downstream_gene_variant,,ENST00000503805,;ANAPC4,upstream_gene_variant,,ENST00000515848,; T ENSG00000053900 ENST00000510092 Transcript splice_region_variant,intron_variant 1 1 ANAPC4 HGNC HGNC:19990 protein_coding YES CCDS68684.1 ENSP00000426654 Q9UJX5 UPI0001D3B28F NM_001286756.1 21/28 LOW 1 SNV 5 PASS TAC . . 25409794 UGT2B10 . GRCh38 chr4 68816743 68816744 + Splice_Region INS - - T rs769235854 7316-3023 BS_YKD3WYFB - - c.718+13dup ENST00000265403 60 25 29 41 39 0 UGT2B10,splice_region_variant,,ENST00000265403,NM_001075.5,NM_001290091.1;UGT2B10,intron_variant,,ENST00000458688,NM_001144767.2;AC021146.8,downstream_gene_variant,,ENST00000507455,; T ENSG00000109181 ENST00000265403 Transcript splice_region_variant,intron_variant rs769235854 1 1 UGT2B10 HGNC HGNC:12544 protein_coding YES CCDS75136.1 ENSP00000265403 P36537 UPI0000137A96 NM_001075.5,NM_001290091.1 1/5 LOW 1 insertion 1 7 PASS GAT . . 2.819e-05 3.592e-05 0.0001414 4.027e-05 68816743 RPL34 . GRCh38 chr4 108621975 108621975 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.16A>C p.Thr6Pro p.T6P ENST00000394668 2/6 53 47 6 52 50 1 RPL34,missense_variant,p.Thr6Pro,ENST00000394668,NM_033625.3;RPL34,missense_variant,p.Thr6Pro,ENST00000502534,;RPL34,missense_variant,p.Thr6Pro,ENST00000506397,NM_001319232.1;RPL34,missense_variant,p.Thr6Pro,ENST00000394665,NM_001319234.1,NM_001319235.1;RPL34,missense_variant,p.Thr6Pro,ENST00000394667,NM_000995.4,NM_001319236.1;RPL34-AS1,upstream_gene_variant,,ENST00000506795,;RPL34-AS1,upstream_gene_variant,,ENST00000507248,;RPL34-AS1,upstream_gene_variant,,ENST00000509984,;RPL34-AS1,upstream_gene_variant,,ENST00000510212,;RPL34,non_coding_transcript_exon_variant,,ENST00000503574,;RPL34,upstream_gene_variant,,ENST00000504231,; C ENSG00000109475 ENST00000394668 Transcript missense_variant 82/853 16/354 6/117 T/P Aca/Cca 1 1 RPL34 HGNC HGNC:10340 protein_coding YES CCDS3680.1 ENSP00000378163 P49207 A0A024RDH8 UPI000013C8A5 NM_033625.3 deleterious(0) possibly_damaging(0.812) 2/6 PDB-ENSP_mappings:4ug0.Lg,PDB-ENSP_mappings:4v6x.Cg,PDB-ENSP_mappings:5aj0.Ag,PDB-ENSP_mappings:5lks.Lg,PDB-ENSP_mappings:5t2c.a,Pfam_domain:PF01199,hmmpanther:PTHR10759,hmmpanther:PTHR10759:SF10 MODERATE 1 SNV 1 PASS GAC . . 108621975 TENT4A . GRCh38 chr5 6754829 6754829 + Missense_Mutation SNP G G A rs774101666 7316-3023 BS_YKD3WYFB G G c.1513G>A p.Gly505Arg p.G505R ENST00000631941 13/13 78 47 30 48 47 0 TENT4A,missense_variant,p.Gly755Arg,ENST00000230859,;TENT4A,missense_variant,p.Gly505Arg,ENST00000631941,NM_006999.4,NM_001171805.1;TENT4A,non_coding_transcript_exon_variant,,ENST00000514697,NM_001171806.1;TENT4A,downstream_gene_variant,,ENST00000505457,;TENT4A,downstream_gene_variant,,ENST00000514410,; A ENSG00000112941 ENST00000631941 Transcript missense_variant 1701/1902 1513/1629 505/542 G/R Gga/Aga rs774101666 1 1 TENT4A HGNC HGNC:16705 protein_coding YES CCDS3871.1 ENSP00000488642 Q5XG87 UPI0000071E30 NM_006999.4,NM_001171805.1 tolerated_low_confidence(0.24) benign(0) 13/13 hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF24,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CGG . . 4.089e-06 9.02e-06 6754829 TENM2 . GRCh38 chr5 168098046 168098046 + Missense_Mutation SNP C C T rs778632973 7316-3023 BS_YKD3WYFB C C c.1036C>T p.Arg346Cys p.R346C ENST00000520394 6/25 75 43 29 45 44 0 TENM2,missense_variant,p.Arg457Cys,ENST00000519204,;TENM2,missense_variant,p.Arg578Cys,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Arg346Cys,ENST00000520394,NM_001080428.2;AC011369.1,intron_variant,,ENST00000517408,; T ENSG00000145934 ENST00000520394 Transcript missense_variant 1087/8034 1036/7608 346/2535 R/C Cgt/Tgt rs778632973,COSM673941,COSM673940 1 1 TENM2 HGNC HGNC:29943 protein_coding YES CCDS83040.1 ENSP00000427874 F8VNQ3 UPI00006C0983 NM_001080428.2 deleterious(0.03) possibly_damaging(0.804) 6/25 Gene3D:2.60.40.1510,blastprodom:PD936484,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF64,SMART_domains:SM00181 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ACG . . 2.848e-05 6.544e-05 0.0005082 8.969e-06 168098046 HIST1H4D . GRCh38 chr6 26188829 26188829 + Missense_Mutation SNP G G A rs144742137 7316-3023 BS_YKD3WYFB G G c.248C>T p.Thr83Ile p.T83I ENST00000614247 1/1 99 92 7 36 36 0 HIST1H4D,missense_variant,p.Thr83Ile,ENST00000614247,NM_003539.3;HIST1H2BE,downstream_gene_variant,,ENST00000614097,NM_003523.2;HIST1H2BE,downstream_gene_variant,,ENST00000634910,;,regulatory_region_variant,,ENSR00000194997,; A ENSG00000277157 ENST00000614247 Transcript missense_variant 248/312 248/312 83/103 T/I aCa/aTa rs144742137 1 -1 HIST1H4D HGNC HGNC:4782 protein_coding YES CCDS4589.1 ENSP00000479461 P62805 B2R4R0 UPI000000003C NM_003539.3 deleterious(0) benign(0.229) 1/1 Gene3D:1.10.20.10,PDB-ENSP_mappings:2cv5.B,PDB-ENSP_mappings:2cv5.F,PDB-ENSP_mappings:3a6n.B,PDB-ENSP_mappings:3a6n.F,PDB-ENSP_mappings:3afa.B,PDB-ENSP_mappings:3afa.F,PDB-ENSP_mappings:3an2.B,PDB-ENSP_mappings:3an2.F,PDB-ENSP_mappings:3av1.B,PDB-ENSP_mappings:3av1.F,PDB-ENSP_mappings:3av2.B,PDB-ENSP_mappings:3av2.F,PDB-ENSP_mappings:3ayw.B,PDB-ENSP_mappings:3ayw.F,PDB-ENSP_mappings:3aze.B,PDB-ENSP_mappings:3aze.F,PDB-ENSP_mappings:3azf.B,PDB-ENSP_mappings:3azf.F,PDB-ENSP_mappings:3azg.B,PDB-ENSP_mappings:3azg.F,PDB-ENSP_mappings:3azh.B,PDB-ENSP_mappings:3azh.F,PDB-ENSP_mappings:3azi.B,PDB-ENSP_mappings:3azi.F,PDB-ENSP_mappings:3azj.B,PDB-ENSP_mappings:3azj.F,PDB-ENSP_mappings:3azk.B,PDB-ENSP_mappings:3azk.F,PDB-ENSP_mappings:3azl.B,PDB-ENSP_mappings:3azl.F,PDB-ENSP_mappings:3azm.B,PDB-ENSP_mappings:3azm.F,PDB-ENSP_mappings:3azn.B,PDB-ENSP_mappings:3azn.F,PDB-ENSP_mappings:3nqj.B,PDB-ENSP_mappings:3nqu.B,PDB-ENSP_mappings:3r45.B,PDB-ENSP_mappings:3w96.B,PDB-ENSP_mappings:3w96.F,PDB-ENSP_mappings:3w97.B,PDB-ENSP_mappings:3w97.F,PDB-ENSP_mappings:3w98.B,PDB-ENSP_mappings:3w98.F,PDB-ENSP_mappings:3w99.B,PDB-ENSP_mappings:3w99.F,PDB-ENSP_mappings:3wa9.B,PDB-ENSP_mappings:3wa9.F,PDB-ENSP_mappings:3waa.B,PDB-ENSP_mappings:3waa.F,PDB-ENSP_mappings:3wkj.B,PDB-ENSP_mappings:3wkj.F,PDB-ENSP_mappings:3wtp.B,PDB-ENSP_mappings:3wtp.F,PDB-ENSP_mappings:3x1s.B,PDB-ENSP_mappings:3x1s.F,PDB-ENSP_mappings:3x1t.B,PDB-ENSP_mappings:3x1t.F,PDB-ENSP_mappings:3x1u.B,PDB-ENSP_mappings:3x1u.F,PDB-ENSP_mappings:3x1v.B,PDB-ENSP_mappings:3x1v.F,PDB-ENSP_mappings:4h9n.B,PDB-ENSP_mappings:4h9o.B,PDB-ENSP_mappings:4h9p.B,PDB-ENSP_mappings:4h9q.B,PDB-ENSP_mappings:4h9r.B,PDB-ENSP_mappings:4h9s.C,PDB-ENSP_mappings:4h9s.D,PDB-ENSP_mappings:4hga.C,PDB-ENSP_mappings:4ym5.B,PDB-ENSP_mappings:4ym5.F,PDB-ENSP_mappings:4ym6.B,PDB-ENSP_mappings:4ym6.F,PDB-ENSP_mappings:4z2m.H,PDB-ENSP_mappings:4z2m.J,PDB-ENSP_mappings:4z5t.B,PDB-ENSP_mappings:4z5t.F,PDB-ENSP_mappings:5av5.B,PDB-ENSP_mappings:5av5.F,PDB-ENSP_mappings:5av6.B,PDB-ENSP_mappings:5av6.F,PDB-ENSP_mappings:5av8.B,PDB-ENSP_mappings:5av8.F,PDB-ENSP_mappings:5av9.B,PDB-ENSP_mappings:5av9.F,PDB-ENSP_mappings:5avb.B,PDB-ENSP_mappings:5avb.F,PDB-ENSP_mappings:5avc.B,PDB-ENSP_mappings:5avc.F,PDB-ENSP_mappings:5ay8.B,PDB-ENSP_mappings:5ay8.F,PDB-ENSP_mappings:5b0y.B,PDB-ENSP_mappings:5b0y.F,PDB-ENSP_mappings:5b0z.B,PDB-ENSP_mappings:5b0z.F,PDB-ENSP_mappings:5b24.B,PDB-ENSP_mappings:5b24.F,PDB-ENSP_mappings:5b2i.B,PDB-ENSP_mappings:5b2i.F,PDB-ENSP_mappings:5b2j.B,PDB-ENSP_mappings:5b2j.F,PDB-ENSP_mappings:5b31.B,PDB-ENSP_mappings:5b31.F,PDB-ENSP_mappings:5b32.B,PDB-ENSP_mappings:5b32.F,PDB-ENSP_mappings:5b33.B,PDB-ENSP_mappings:5b33.F,PDB-ENSP_mappings:5b40.B,PDB-ENSP_mappings:5b40.F,PDB-ENSP_mappings:5bnv.B,PDB-ENSP_mappings:5bnv.E,PDB-ENSP_mappings:5bnx.B,PDB-ENSP_mappings:5bo0.B,PDB-ENSP_mappings:5c3i.C,PDB-ENSP_mappings:5c3i.G,PDB-ENSP_mappings:5c3i.K,PDB-ENSP_mappings:5c3i.O,PDB-ENSP_mappings:5c3i.S,PDB-ENSP_mappings:5c3i.W,PDB-ENSP_mappings:5cpi.B,PDB-ENSP_mappings:5cpi.F,PDB-ENSP_mappings:5cpj.B,PDB-ENSP_mappings:5cpj.F,PDB-ENSP_mappings:5cpk.B,PDB-ENSP_mappings:5cpk.F,PDB-ENSP_mappings:5gse.B,PDB-ENSP_mappings:5gse.F,PDB-ENSP_mappings:5gse.L,PDB-ENSP_mappings:5gse.P,PDB-ENSP_mappings:5gsu.B,PDB-ENSP_mappings:5gsu.F,PDB-ENSP_mappings:5gt0.B,PDB-ENSP_mappings:5gt0.F,PDB-ENSP_mappings:5gt3.B,PDB-ENSP_mappings:5gt3.F,PDB-ENSP_mappings:5gtc.B,PDB-ENSP_mappings:5gtc.F,PDB-ENSP_mappings:5gxq.B,PDB-ENSP_mappings:5gxq.F,PDB-ENSP_mappings:5ja4.B,PDB-ENSP_mappings:5jrg.B,PDB-ENSP_mappings:5jrg.F,PDB-ENSP_mappings:5kdm.B,PDB-ENSP_mappings:5x7x.B,PDB-ENSP_mappings:5x7x.F,PDB-ENSP_mappings:5xf3.B,PDB-ENSP_mappings:5xf3.F,PDB-ENSP_mappings:5xf4.B,PDB-ENSP_mappings:5xf4.F,PDB-ENSP_mappings:5xf5.B,PDB-ENSP_mappings:5xf5.F,PDB-ENSP_mappings:6buz.B,PDB-ENSP_mappings:6buz.F,PDB-ENSP_mappings:6c0w.B,PDB-ENSP_mappings:6c0w.F,Pfam_domain:PF15511,Prints_domain:PR00623,hmmpanther:PTHR10484,hmmpanther:PTHR10484:SF160,SMART_domains:SM00417,SMART_domains:SM00803,Superfamily_domains:SSF47113,cd00076 0.0008 0.004 MODERATE SNV PASS TGT . . 2.03e-05 0.0002899 26188829 ZNF318 . GRCh38 chr6 43337684 43337684 + Frame_Shift_Del DEL A A - novel 7316-3023 BS_YKD3WYFB A A c.6314del p.Leu2105Ter p.L2105* ENST00000361428 10/10 83 69 6 41 39 0 ZNF318,frameshift_variant,p.Leu2105Ter,ENST00000361428,NM_014345.2;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000605935,; - ENSG00000171467 ENST00000361428 Transcript frameshift_variant 6392/8006 6314/6840 2105/2279 L/X tTg/tg 1 -1 ZNF318 HGNC HGNC:13578 protein_coding YES CCDS4895.2 ENSP00000354964 Q5VUA4 UPI000049E044 NM_014345.2 10/10 hmmpanther:PTHR15577 HIGH 1 deletion 1 PASS TCAA . . 43337683 MICAL1 . GRCh38 chr6 109445270 109445270 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.2865T>G p.Asn955Lys p.N955K ENST00000630715 22/25 78 68 10 38 36 1 MICAL1,missense_variant,p.Asn955Lys,ENST00000630715,NM_001286613.1;MICAL1,missense_variant,p.Asn936Lys,ENST00000358807,NM_022765.3;MICAL1,missense_variant,p.Asn850Lys,ENST00000358577,NM_001159291.1;SMPD2,downstream_gene_variant,,ENST00000258052,NM_003080.2;PPIL6,upstream_gene_variant,,ENST00000417394,;PPIL6,upstream_gene_variant,,ENST00000424445,NM_001286360.1;MICAL1,downstream_gene_variant,,ENST00000433205,;PPIL6,upstream_gene_variant,,ENST00000440797,NM_001111298.2;SMPD2,downstream_gene_variant,,ENST00000458487,;PPIL6,upstream_gene_variant,,ENST00000518648,;PPIL6,upstream_gene_variant,,ENST00000520723,NM_001286361.1;PPIL6,upstream_gene_variant,,ENST00000521072,NM_173672.4;MICAL1,non_coding_transcript_exon_variant,,ENST00000465904,;MICAL1,non_coding_transcript_exon_variant,,ENST00000456101,;SMPD2,downstream_gene_variant,,ENST00000439615,;PPIL6,upstream_gene_variant,,ENST00000447468,; C ENSG00000135596 ENST00000630715 Transcript missense_variant 3156/3678 2865/3261 955/1086 N/K aaT/aaG 1 -1 MICAL1 HGNC HGNC:20619 protein_coding YES CCDS69170.1 ENSP00000486901 Q8TDZ2 UPI0002064DFD NM_001286613.1 deleterious(0.01) benign(0.087) 22/25 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR44265:SF2,hmmpanther:PTHR44265,Gene3D:2.10.110.10,Pfam_domain:PF12130,SMART_domains:SM01203 MODERATE SNV 2 PASS CAT . . 109445270 SYNE1 . GRCh38 chr6 152442194 152442194 + Missense_Mutation SNP C C T rs781769990 7316-3023 BS_YKD3WYFB C C c.3889G>A p.Ala1297Thr p.A1297T ENST00000367255 31/146 82 52 30 38 38 0 SYNE1,missense_variant,p.Ala1297Thr,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Ala1304Thr,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Ala1346Thr,ENST00000341594,;SYNE1,missense_variant,p.Ala1287Thr,ENST00000367248,;SYNE1,missense_variant,p.Ala1297Thr,ENST00000367253,;SYNE1,missense_variant,p.Ala1297Thr,ENST00000413186,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,; T ENSG00000131018 ENST00000367255 Transcript missense_variant 4491/27748 3889/26394 1297/8797 A/T Gcg/Acg rs781769990 1 -1 SYNE1 HGNC HGNC:17089 protein_coding YES CCDS5236.2 ENSP00000356224 Q8NF91 UPI000204AF58 NM_182961.3 benign(0) 31/146 hmmpanther:PTHR44867,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GCG . . 3.272e-05 0.0002727 1.81e-05 152442194 AL137005.1 . GRCh38 chr6 163759227 163759227 + Splice_Region SNP G G A novel 7316-3023 BS_YKD3WYFB G G n.105G>A ENST00000452944 2/2 66 33 32 41 40 0 AL137005.1,splice_region_variant,,ENST00000452944,; A ENSG00000235538 ENST00000452944 Transcript splice_region_variant,non_coding_transcript_exon_variant 105/719 1 1 AL137005.1 Clone_based_ensembl_gene lincRNA YES 2/2 LOW 1 SNV 5 PASS TGG . . 163759227 VGF . GRCh38 chr7 101163116 101163116 + Nonsense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.1728T>G p.Tyr576Ter p.Y576* ENST00000249330 2/2 130 123 7 34 34 0 VGF,stop_gained,p.Tyr576Ter,ENST00000249330,NM_003378.3;VGF,stop_gained,p.Tyr576Ter,ENST00000445482,;VGF,intron_variant,,ENST00000611537,;AP1S1,downstream_gene_variant,,ENST00000337619,NM_001283.3;AP1S1,downstream_gene_variant,,ENST00000429457,;AP1S1,downstream_gene_variant,,ENST00000646560,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000643104,;AP1S1,downstream_gene_variant,,ENST00000443943,;AP1S1,downstream_gene_variant,,ENST00000646950,;,regulatory_region_variant,,ENSR00000215902,; C ENSG00000128564 ENST00000249330 Transcript stop_gained 1968/2575 1728/1848 576/615 Y/* taT/taG 1 -1 VGF HGNC HGNC:12684 protein_coding YES CCDS5712.1 ENSP00000249330 O15240 UPI000006FC7B NM_003378.3 2/2 Gene3D:1.10.601.10,hmmpanther:PTHR15159,mobidb-lite HIGH 1 SNV 1 PASS GAT . . 101163116 IQUB . GRCh38 chr7 123502661 123502661 + Missense_Mutation SNP T T A novel 7316-3023 BS_YKD3WYFB T T c.959A>T p.Asp320Val p.D320V ENST00000466202 6/13 98 70 26 35 34 0 IQUB,missense_variant,p.Asp320Val,ENST00000466202,NM_001282855.1,NM_001321293.1;IQUB,missense_variant,p.Asp320Val,ENST00000324698,NM_178827.4;IQUB,non_coding_transcript_exon_variant,,ENST00000488987,;IQUB,missense_variant,p.Asp320Val,ENST00000484508,;IQUB,missense_variant,p.Asp320Val,ENST00000469057,;IQUB,non_coding_transcript_exon_variant,,ENST00000483567,; A ENSG00000164675 ENST00000466202 Transcript missense_variant 1536/3296 959/2376 320/791 D/V gAt/gTt 1 -1 IQUB HGNC HGNC:21995 protein_coding YES CCDS5787.1 ENSP00000417769 Q8NA54 A0A024R771 UPI000013E3DF NM_001282855.1,NM_001321293.1 deleterious(0) probably_damaging(1) 6/13 hmmpanther:PTHR21074 MODERATE 1 SNV 1 PASS ATC . . 123502661 IQUB . GRCh38 chr7 123502662 123502662 + Missense_Mutation SNP C C A 7316-3023 BS_YKD3WYFB C C c.958G>T p.Asp320Tyr p.D320Y ENST00000466202 6/13 98 70 27 35 34 0 IQUB,missense_variant,p.Asp320Tyr,ENST00000466202,NM_001282855.1,NM_001321293.1;IQUB,missense_variant,p.Asp320Tyr,ENST00000324698,NM_178827.4;IQUB,non_coding_transcript_exon_variant,,ENST00000488987,;IQUB,missense_variant,p.Asp320Tyr,ENST00000484508,;IQUB,missense_variant,p.Asp320Tyr,ENST00000469057,;IQUB,non_coding_transcript_exon_variant,,ENST00000483567,; A ENSG00000164675 ENST00000466202 Transcript missense_variant 1535/3296 958/2376 320/791 D/Y Gat/Tat COSM4432955 1 -1 IQUB HGNC HGNC:21995 protein_coding YES CCDS5787.1 ENSP00000417769 Q8NA54 A0A024R771 UPI000013E3DF NM_001282855.1,NM_001321293.1 deleterious(0) probably_damaging(1) 6/13 hmmpanther:PTHR21074 1 MODERATE 1 SNV 1 1 PASS TCA . . 123502662 IQUB . GRCh38 chr7 123502664 123502666 + In_Frame_Del DEL GTC GTC - novel 7316-3023 BS_YKD3WYFB GTC GTC c.954_956del p.Met318_Thr319delinsIle p.M318_T319delinsI ENST00000466202 6/13 99 66 27 35 35 0 IQUB,inframe_deletion,p.Met318_Thr319delinsIle,ENST00000466202,NM_001282855.1,NM_001321293.1;IQUB,inframe_deletion,p.Met318_Thr319delinsIle,ENST00000324698,NM_178827.4;IQUB,non_coding_transcript_exon_variant,,ENST00000488987,;IQUB,inframe_deletion,p.Met318_Thr319delinsIle,ENST00000484508,;IQUB,inframe_deletion,p.Met318_Thr319delinsIle,ENST00000469057,;IQUB,non_coding_transcript_exon_variant,,ENST00000483567,; - ENSG00000164675 ENST00000466202 Transcript inframe_deletion 1531-1533/3296 954-956/2376 318-319/791 MT/I atGACt/att 1 -1 IQUB HGNC HGNC:21995 protein_coding YES CCDS5787.1 ENSP00000417769 Q8NA54 A0A024R771 UPI000013E3DF NM_001282855.1,NM_001321293.1 6/13 hmmpanther:PTHR21074 MODERATE 1 deletion 1 PASS CAGTCA . . 123502663 KCP . GRCh38 chr7 128907117 128907117 + Missense_Mutation SNP G G C novel 7316-3023 BS_YKD3WYFB G G c.470C>G p.Thr157Ser p.T157S ENST00000610776 4/40 98 76 21 38 38 0 KCP,missense_variant,p.Thr157Ser,ENST00000610776,;KCP,missense_variant,p.Thr157Ser,ENST00000613019,;KCP,missense_variant,p.Thr157Ser,ENST00000620378,NM_001135914.1;KCP,non_coding_transcript_exon_variant,,ENST00000612224,NM_199349.2;KCP,missense_variant,p.Thr157Ser,ENST00000611280,;KCP,upstream_gene_variant,,ENST00000616669,; C ENSG00000135253 ENST00000610776 Transcript missense_variant 513/5108 470/4887 157/1628 T/S aCc/aGc 1 -1 KCP HGNC HGNC:17585 protein_coding YES ENSP00000479679 A0A087WVT8 UPI0004620CE8 tolerated(0.52) probably_damaging(0.994) 4/40 Gene3D:2.10.70.10,Pfam_domain:PF00093,PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF280,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603 MODERATE 1 SNV 5 PASS GGT . . 128907117 LRGUK . GRCh38 chr7 134127410 134127410 + Missense_Mutation SNP T T A novel 7316-3023 BS_YKD3WYFB T T c.43T>A p.Ser15Thr p.S15T ENST00000285928 1/20 120 82 37 27 27 0 LRGUK,missense_variant,p.Ser15Thr,ENST00000645682,;LRGUK,missense_variant,p.Ser15Thr,ENST00000285928,NM_144648.1;LRGUK,non_coding_transcript_exon_variant,,ENST00000473068,;,regulatory_region_variant,,ENSR00000218398,; A ENSG00000155530 ENST00000285928 Transcript missense_variant 112/3163 43/2478 15/825 S/T Tct/Act 1 1 LRGUK HGNC HGNC:21964 protein_coding YES CCDS5830.1 ENSP00000285928 Q96M69 UPI0000072C76 NM_144648.1 tolerated_low_confidence(0.09) benign(0.034) 1/20 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTC . . 134127410 MGAM2 . GRCh38 chr7 142154072 142154073 + Frame_Shift_Del DEL TT TT - novel 7316-3023 BS_YKD3WYFB TT TT c.1691_1692del p.Phe564CysfsTer20 p.F564Cfs*20 ENST00000477922 16/48 120 77 38 42 41 0 MGAM2,frameshift_variant,p.Phe564CysfsTer20,ENST00000477922,NM_001293626.1; - ENSG00000257743 ENST00000477922 Transcript frameshift_variant 1743-1744/7867 1689-1690/7548 563-564/2515 TF/TX acTTtt/actt 1 1 MGAM2 HGNC HGNC:28101 protein_coding YES CCDS78281.1 ENSP00000420449 Q2M2H8 UPI0002B8321D NM_001293626.1 16/48 Gene3D:3.20.20.80,Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF122,Superfamily_domains:SSF51445,cd06602 HIGH 1 deletion 5 2 PASS ACTTT . . 142154071 TRBV10-3 . GRCh38 chr7 142544486 142544486 + Missense_Mutation SNP C C T rs1209724836 7316-3023 BS_YKD3WYFB C C c.145C>T p.Arg49Cys p.R49C ENST00000611462 2/2 105 96 8 25 24 0 TRBV10-3,missense_variant,p.Arg49Cys,ENST00000611462,; T ENSG00000275791 ENST00000611462 Transcript missense_variant 169/368 145/344 49/114 R/C Cgc/Tgc rs1209724836 1 1 TRBV10-3 HGNC HGNC:12179 TR_V_gene YES ENSP00000479267 A0A0K0K1G6 UPI0003F47EA8 deleterious(0.01) benign(0.111) 2/2 MODERATE 1 SNV PASS CCG . . 142544486 ZNF282 . GRCh38 chr7 149223928 149223928 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.1297A>C p.Ile433Leu p.I433L ENST00000610704 8/8 77 67 10 27 26 1 ZNF282,missense_variant,p.Ile433Leu,ENST00000610704,NM_003575.3;ZNF282,missense_variant,p.Ile433Leu,ENST00000479907,NM_001303481.1;ZNF282,non_coding_transcript_exon_variant,,ENST00000470381,; C ENSG00000170265 ENST00000610704 Transcript missense_variant 1402/3722 1297/2016 433/671 I/L Atc/Ctc 1 1 ZNF282 HGNC HGNC:13076 protein_coding YES CCDS5895.1 ENSP00000477841 Q9UDV7 A0A090N8Y3 UPI000013D255 NM_003575.3 tolerated(0.81) benign(0) 8/8 hmmpanther:PTHR44963,mobidb-lite MODERATE 1 SNV 1 PASS CAT . . 149223928 GIMAP2 . GRCh38 chr7 150693142 150693142 + Missense_Mutation SNP C C A novel 7316-3023 BS_YKD3WYFB C C c.856C>A p.Leu286Met p.L286M ENST00000223293 3/3 120 112 7 37 37 0 GIMAP2,missense_variant,p.Leu286Met,ENST00000223293,NM_015660.2;GIMAP2,downstream_gene_variant,,ENST00000474605,; A ENSG00000106560 ENST00000223293 Transcript missense_variant 950/1449 856/1014 286/337 L/M Ctg/Atg 1 1 GIMAP2 HGNC HGNC:21789 protein_coding YES CCDS5905.1 ENSP00000223293 Q9UG22 A0A090N8H4 UPI000006D114 NM_015660.2 tolerated(0.11) benign(0.069) 3/3 hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF7,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS TCT . . 150693142 KCNH2 . GRCh38 chr7 150947407 150947407 + Missense_Mutation SNP T T G novel 7316-3023 BS_YKD3WYFB T T c.3073A>C p.Ile1025Leu p.I1025L ENST00000262186 13/15 130 115 12 33 32 0 KCNH2,missense_variant,p.Ile1025Leu,ENST00000262186,NM_000238.3;KCNH2,missense_variant,p.Ile685Leu,ENST00000330883,NM_172057.2;KCNH2,downstream_gene_variant,,ENST00000430723,NM_172056.2;KCNH2,downstream_gene_variant,,ENST00000461280,NM_001204798.1;KCNH2,downstream_gene_variant,,ENST00000473610,;KCNH2,downstream_gene_variant,,ENST00000532957,;,regulatory_region_variant,,ENSR00000219754,; G ENSG00000055118 ENST00000262186 Transcript missense_variant 3475/4286 3073/3480 1025/1159 I/L Atc/Ctc 1 -1 KCNH2 HGNC HGNC:6251 protein_coding YES CCDS5910.1 ENSP00000262186 Q12809 A0A090N8Q0 UPI0000062255 NM_000238.3 tolerated(0.74) benign(0) 13/15 hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506,mobidb-lite MODERATE 1 SNV 1 1 PASS ATG . . 150947407 CSMD1 . GRCh38 chr8 4637532 4637532 + Missense_Mutation SNP C C T novel 7316-3023 BS_YKD3WYFB C C c.112G>A p.Gly38Ser p.G38S ENST00000635120 2/70 62 41 20 34 32 0 CSMD1,missense_variant,p.Gly38Ser,ENST00000520002,;CSMD1,missense_variant,p.Gly38Ser,ENST00000602557,;CSMD1,missense_variant,p.Gly38Ser,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Gly38Ser,ENST00000400186,;CSMD1,missense_variant,p.Gly38Ser,ENST00000602723,; T ENSG00000183117 ENST00000635120 Transcript missense_variant 668/11737 112/10695 38/3564 G/S Ggt/Agt 1 -1 CSMD1 HGNC HGNC:14026 protein_coding YES CCDS55189.1 ENSP00000489225 Q96PZ7 UPI0001B723C6 NM_033225.5 tolerated(0.18) possibly_damaging(0.854) 2/70 Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00042,Superfamily_domains:SSF49854,cd00041 MODERATE 1 SNV 5 PASS CCC . . 4637532 SLC18A1 . GRCh38 chr8 20181951 20181951 + Splice_Region SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.-326T>G ENST00000440926 2/17 65 39 26 49 49 0 SLC18A1,splice_region_variant,,ENST00000440926,NM_001135691.2;SLC18A1,splice_region_variant,,ENST00000437980,NM_001142325.1;SLC18A1,splice_region_variant,,ENST00000265808,NM_001142324.1;SLC18A1,intron_variant,,ENST00000276373,NM_003053.3;SLC18A1,intron_variant,,ENST00000519026,;SLC18A1,intron_variant,,ENST00000522513,;SLC18A1,upstream_gene_variant,,ENST00000381608,;SLC18A1,intron_variant,,ENST00000517776,; C ENSG00000036565 ENST00000440926 Transcript splice_region_variant,5_prime_UTR_variant 146/2956 1 -1 SLC18A1 HGNC HGNC:10934 protein_coding YES CCDS6013.1 ENSP00000387549 P54219 UPI00001389CE NM_001135691.2 2/17 LOW 1 SNV 5 PASS CAT . . 20181951 OPRK1 . GRCh38 chr8 53229734 53229734 + Missense_Mutation SNP C C T rs767220566 7316-3023 BS_YKD3WYFB C C c.706G>A p.Val236Met p.V236M ENST00000265572 4/4 65 47 17 41 39 0 OPRK1,missense_variant,p.Val147Met,ENST00000612786,NM_001282904.1;OPRK1,missense_variant,p.Val236Met,ENST00000265572,NM_001318497.1,NM_000912.4;OPRK1,missense_variant,p.Val222Met,ENST00000613482,;OPRK1,missense_variant,p.Val236Met,ENST00000520287,;OPRK1,missense_variant,p.Val147Met,ENST00000524278,;AC009646.2,intron_variant,,ENST00000524425,;OPRK1,3_prime_UTR_variant,,ENST00000522508,; T ENSG00000082556 ENST00000265572 Transcript missense_variant 1004/5014 706/1143 236/380 V/M Gtg/Atg rs767220566 1 -1 OPRK1 HGNC HGNC:8154 protein_coding YES CCDS6152.1 ENSP00000265572 P41145 UPI000011D794 NM_001318497.1,NM_000912.4 tolerated(0.09) benign(0.318) 4/4 Transmembrane_helices:TMhelix,cd15091,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF1,hmmpanther:PTHR24229,Prints_domain:PR00237 MODERATE 1 SNV 1 PASS ACG . . 2.849e-05 8.94e-05 1.798e-05 0.0001827 3.25e-05 53229734 XKR4 . GRCh38 chr8 55523326 55523326 + Missense_Mutation SNP C C T novel 7316-3023 BS_YKD3WYFB C C c.1052C>T p.Ala351Val p.A351V ENST00000327381 3/3 82 76 5 30 30 0 XKR4,missense_variant,p.Ala351Val,ENST00000327381,NM_052898.1;XKR4,missense_variant,p.Ala351Val,ENST00000622811,;AC090200.1,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,; T ENSG00000206579 ENST00000327381 Transcript missense_variant 1152/19880 1052/1953 351/650 A/V gCc/gTc 1 1 XKR4 HGNC HGNC:29394 protein_coding YES CCDS34893.1 ENSP00000328326 Q5GH76 UPI000016098C NM_052898.1 deleterious(0.04) probably_damaging(0.998) 3/3 Pfam_domain:PF09815,hmmpanther:PTHR16024,hmmpanther:PTHR16024:SF16,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCC . . 55523326 AC083967.1 . GRCh38 chr8 68849106 68849106 + Splice_Region DEL A A - rs34895997 7316-3023 BS_YKD3WYFB A A n.159-8del ENST00000522354 55 27 15 26 20 0 AC083967.1,splice_region_variant,,ENST00000522354,; - ENSG00000254337 ENST00000522354 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs34895997 1 -1 AC083967.1 Clone_based_ensembl_gene lincRNA YES 2/2 0.6316 0.8071 0.5014 0.7431 0.4344 0.5746 LOW 1 deletion 3 PASS TCAA . . 68849105 PABPC1 . GRCh38 chr8 100709589 100709589 + Missense_Mutation SNP T T C rs201076736 7316-3023 BS_YKD3WYFB T T c.1115A>G p.Glu372Gly p.E372G ENST00000318607 8/15 90 75 14 38 38 0 PABPC1,missense_variant,p.Glu372Gly,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Glu327Gly,ENST00000519004,;PABPC1,missense_variant,p.Glu340Gly,ENST00000522387,;PABPC1,missense_variant,p.Glu347Gly,ENST00000610907,;PABPC1,missense_variant,p.Glu241Gly,ENST00000519100,;PABPC1,intron_variant,,ENST00000517403,;PABPC1,upstream_gene_variant,,ENST00000517990,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,upstream_gene_variant,,ENST00000520868,;PABPC1,upstream_gene_variant,,ENST00000522658,;PABPC1,downstream_gene_variant,,ENST00000523555,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519596,;PABPC1,missense_variant,p.Glu63Gly,ENST00000523636,;PABPC1,3_prime_UTR_variant,,ENST00000519622,;PABPC1,non_coding_transcript_exon_variant,,ENST00000518716,;PABPC1,downstream_gene_variant,,ENST00000517921,;PABPC1,upstream_gene_variant,,ENST00000519848,; C ENSG00000070756 ENST00000318607 Transcript missense_variant 2244/3485 1115/1911 372/636 E/G gAa/gGa rs201076736,COSM4590064 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 deleterious(0) probably_damaging(0.993) 8/15 Gene3D:3.30.70.330,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628 0,1 MODERATE 1 SNV 1 0,1 1 PASS TTC . . 0.1665 0.2408 0.1337 0.1277 0.2266 0.1785 0.1577 0.151 0.1815 100709589 TBC1D31 . GRCh38 chr8 123100810 123100810 + Frame_Shift_Del DEL C C - novel 7316-3023 BS_YKD3WYFB C C c.835del p.Gly280GlufsTer3 p.G280Efs*3 ENST00000287380 7/22 53 26 24 32 32 0 TBC1D31,frameshift_variant,p.Gly280GlufsTer3,ENST00000287380,NM_145647.3;TBC1D31,frameshift_variant,p.Gly175GlufsTer3,ENST00000521676,;TBC1D31,frameshift_variant,p.Gly175GlufsTer3,ENST00000522420,NM_001330606.1;TBC1D31,frameshift_variant,p.Gly280GlufsTer3,ENST00000327098,NM_001145088.1;TBC1D31,frameshift_variant,p.Gly84GlufsTer3,ENST00000521914,;TBC1D31,intron_variant,,ENST00000519418,;TBC1D31,upstream_gene_variant,,ENST00000518805,;TBC1D31,downstream_gene_variant,,ENST00000522276,;TBC1D31,3_prime_UTR_variant,,ENST00000524307,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000518099,;TBC1D31,downstream_gene_variant,,ENST00000521980,; - ENSG00000156787 ENST00000287380 Transcript frameshift_variant 925/3502 835/3201 279/1066 L/X Ctt/tt 1 1 TBC1D31 HGNC HGNC:30888 protein_coding YES CCDS6338.1 ENSP00000287380 Q96DN5 UPI000013DEAB NM_145647.3 7/22 Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19853,hmmpanther:PTHR19853:SF1,SMART_domains:SM00320,Superfamily_domains:SSF50978 HIGH 1 deletion 1 PASS TTCT . . 123100809 FAM91A1 . GRCh38 chr8 123785722 123785722 + Missense_Mutation SNP C C G novel 7316-3023 BS_YKD3WYFB C C c.943C>G p.Pro315Ala p.P315A ENST00000334705 11/24 81 61 18 38 38 0 FAM91A1,missense_variant,p.Pro315Ala,ENST00000334705,NM_001317917.1,NM_144963.3;FAM91A1,missense_variant,p.Pro315Ala,ENST00000521166,NM_001317918.1;FAM91A1,missense_variant,p.Pro102Ala,ENST00000517912,;FAM91A1,3_prime_UTR_variant,,ENST00000519721,;FAM91A1,downstream_gene_variant,,ENST00000521704,; G ENSG00000176853 ENST00000334705 Transcript missense_variant 1189/5511 943/2517 315/838 P/A Cca/Gca 1 1 FAM91A1 HGNC HGNC:26306 protein_coding YES CCDS6346.2 ENSP00000335082 Q658Y4 UPI0000E5AF4E NM_001317917.1,NM_144963.3 tolerated(0.22) benign(0.24) 11/24 hmmpanther:PTHR28441,hmmpanther:PTHR28441:SF2 MODERATE 1 SNV 1 PASS TCC . . 123785722 WDR97 . GRCh38 chr8 144108471 144108471 + Missense_Mutation SNP G G T novel 7316-3023 BS_YKD3WYFB G G c.405G>T p.Lys135Asn p.K135N ENST00000323662 3/24 124 113 11 40 39 0 WDR97,missense_variant,p.Lys135Asn,ENST00000323662,NM_001316309.1;MAF1,downstream_gene_variant,,ENST00000322428,NM_032272.4;SHARPIN,upstream_gene_variant,,ENST00000398712,NM_030974.3;MAF1,downstream_gene_variant,,ENST00000527058,;MAF1,downstream_gene_variant,,ENST00000527572,;MAF1,downstream_gene_variant,,ENST00000532522,;MAF1,downstream_gene_variant,,ENST00000534585,;MAF1,downstream_gene_variant,,ENST00000534811,;WDR97,upstream_gene_variant,,ENST00000533108,;SHARPIN,upstream_gene_variant,,ENST00000533184,;SHARPIN,upstream_gene_variant,,ENST00000533948,;SHARPIN,upstream_gene_variant,,ENST00000534242,;WDR97,missense_variant,p.Lys135Asn,ENST00000534167,;SHARPIN,upstream_gene_variant,,ENST00000359551,;WDR97,upstream_gene_variant,,ENST00000525150,;WDR97,upstream_gene_variant,,ENST00000528691,;WDR97,upstream_gene_variant,,ENST00000529209,;SHARPIN,upstream_gene_variant,,ENST00000531375,;SHARPIN,upstream_gene_variant,,ENST00000534435,;,regulatory_region_variant,,ENSR00000232207,; T ENSG00000179698 ENST00000323662 Transcript missense_variant 430/6916 405/4869 135/1622 K/N aaG/aaT 1 1 WDR97 HGNC HGNC:26959 protein_coding YES CCDS83334.1 ENSP00000320648 A6NE52 UPI000173AA02 NM_001316309.1 deleterious(0.02) benign(0.035) 3/24 Gene3D:2.130.10.10,hmmpanther:PTHR45532,SMART_domains:SM00320,Superfamily_domains:SSF69322 MODERATE SNV 5 PASS AGG . . 144108471 FAM205A . GRCh38 chr9 34725072 34725072 + Missense_Mutation SNP T T A rs1755268 7316-3023 BS_YKD3WYFB T T c.2168A>T p.Glu723Val p.E723V ENST00000378788 4/4 78 69 8 35 34 0 FAM205A,missense_variant,p.Glu723Val,ENST00000378788,NM_001141917.1; A ENSG00000205108 ENST00000378788 Transcript missense_variant 2208/4225 2168/4008 723/1335 E/V gAa/gTa rs1755268,COSM3782241,COSM3782242 1 -1 FAM205A HGNC HGNC:41911 protein_coding YES CCDS55305.1 ENSP00000417711 Q6ZU69 UPI00017EE92B NM_001141917.1 tolerated(0.06) benign(0.001) 4/4 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF15 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TTC . . 0.296 0.3172 0.2432 0.3246 0.3981 0.2773 0.2621 0.2655 0.3932 34725072 PTCH1 . GRCh38 chr9 95459707 95459715 + In_Frame_Del DEL ACCCAAGCC - - novel 7316-3023 BS_YKD3WYFB ACCCAAGCC ACCCAAGCC c.2772_2780del p.Ala925_Val927del p.A925_V927del ENST00000331920 17/24 63 11 51 44 44 0 PTCH1,inframe_deletion,p.Ala859_Val861del,ENST00000430669,;PTCH1,inframe_deletion,p.Ala925_Val927del,ENST00000331920,NM_000264.3;PTCH1,inframe_deletion,p.Ala859_Val861del,ENST00000437951,NM_001083602.1;PTCH1,inframe_deletion,p.Ala774_Val776del,ENST00000418258,NM_001083607.1;PTCH1,inframe_deletion,p.Ala774_Val776del,ENST00000421141,NM_001083605.1,NM_001083604.1;PTCH1,inframe_deletion,p.Ala774_Val776del,ENST00000429896,NM_001083606.1;PTCH1,inframe_deletion,p.Ala924_Val926del,ENST00000375274,NM_001083603.1;PTCH1,non_coding_transcript_exon_variant,,ENST00000547615,;PTCH1,3_prime_UTR_variant,,ENST00000375290,; - ENSG00000185920 ENST00000331920 Transcript inframe_deletion 3072-3080/8057 2772-2780/4344 924-927/1447 TAWV/T acGGCTTGGGTc/acc 1 -1 PTCH1 HGNC HGNC:9585 protein_coding YES CCDS6714.1 ENSP00000332353 Q13635 UPI00001AFF9C NM_000264.3 17/24 hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,TIGRFAM_domain:TIGR00918 MODERATE 1 deletion 5 1 PASS TGACCCAAGCCG . . 95459706 PTCH1 . GRCh38 chr9 95459717 95459717 + Missense_Mutation SNP T C C novel 7316-3023 BS_YKD3WYFB T T c.2770A>G p.Thr924Ala p.T924A ENST00000331920 17/24 64 12 52 43 43 0 PTCH1,missense_variant,p.Thr858Ala,ENST00000430669,;PTCH1,missense_variant,p.Thr924Ala,ENST00000331920,NM_000264.3;PTCH1,missense_variant,p.Thr858Ala,ENST00000437951,NM_001083602.1;PTCH1,missense_variant,p.Thr773Ala,ENST00000418258,NM_001083607.1;PTCH1,missense_variant,p.Thr773Ala,ENST00000421141,NM_001083605.1,NM_001083604.1;PTCH1,missense_variant,p.Thr773Ala,ENST00000429896,NM_001083606.1;PTCH1,missense_variant,p.Thr923Ala,ENST00000375274,NM_001083603.1;PTCH1,non_coding_transcript_exon_variant,,ENST00000547615,;PTCH1,3_prime_UTR_variant,,ENST00000375290,; C ENSG00000185920 ENST00000331920 Transcript missense_variant 3070/8057 2770/4344 924/1447 T/A Acg/Gcg 1 -1 PTCH1 HGNC HGNC:9585 protein_coding YES CCDS6714.1 ENSP00000332353 Q13635 UPI00001AFF9C NM_000264.3 deleterious(0.01) possibly_damaging(0.803) 17/24 hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,TIGRFAM_domain:TIGR00918 MODERATE 1 SNV 5 1 PASS GTC . . 95459717 ZNF367 . GRCh38 chr9 96417615 96417615 + Missense_Mutation SNP T T G novel 7316-3023 BS_YKD3WYFB T T c.418A>C p.Lys140Gln p.K140Q ENST00000375256 1/5 90 75 10 33 33 0 ZNF367,missense_variant,p.Lys140Gln,ENST00000375256,NM_153695.3;,regulatory_region_variant,,ENSR00000238407,; G ENSG00000165244 ENST00000375256 Transcript missense_variant,splice_region_variant 715/3646 418/1053 140/350 K/Q Aag/Cag 1 -1 ZNF367 HGNC HGNC:18320 protein_coding YES CCDS6718.1 ENSP00000364405 Q7RTV3 UPI000013E47A NM_153695.3 tolerated(0.53) benign(0.027) 1/5 Gene3D:3.30.160.60,hmmpanther:PTHR44530,mobidb-lite MODERATE 1 SNV 1 PASS TTG . . 96417615 INVS . GRCh38 chr9 100240227 100240227 + Missense_Mutation SNP G G C novel 7316-3023 BS_YKD3WYFB G G c.783G>C p.Trp261Cys p.W261C ENST00000262457 6/17 71 46 25 43 43 0 INVS,missense_variant,p.Trp261Cys,ENST00000262457,NM_014425.4,NM_001318382.1,NM_001318381.1;INVS,missense_variant,p.Trp261Cys,ENST00000262456,;INVS,downstream_gene_variant,,ENST00000460636,; C ENSG00000119509 ENST00000262457 Transcript missense_variant 968/3709 783/3198 261/1065 W/C tgG/tgC 1 1 INVS HGNC HGNC:17870 protein_coding YES CCDS6746.1 ENSP00000262457 Q9Y283 A0A024R153 UPI000013D2BB NM_014425.4,NM_001318382.1,NM_001318381.1 deleterious(0) probably_damaging(1) 6/17 Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24178,hmmpanther:PTHR24178:SF2,SMART_domains:SM00248,Superfamily_domains:SSF48403,Superfamily_domains:SSF48403,cd00204 MODERATE 1 SNV 1 1 PASS GGG . . 100240227 LHX2 . GRCh38 chr9 124015381 124015381 + Missense_Mutation SNP G G A rs1378909150 7316-3023 BS_YKD3WYFB G G c.583G>A p.Ala195Thr p.A195T ENST00000373615 3/5 83 76 6 41 41 0 LHX2,missense_variant,p.Ala195Thr,ENST00000373615,NM_004789.3;LHX2,missense_variant,p.Ala201Thr,ENST00000446480,;LHX2,upstream_gene_variant,,ENST00000488674,;LHX2,downstream_gene_variant,,ENST00000560961,;AC006450.1,downstream_gene_variant,,ENST00000421041,;,regulatory_region_variant,,ENSR00000241214,; A ENSG00000106689 ENST00000373615 Transcript missense_variant 1322/2554 583/1221 195/406 A/T Gcg/Acg rs1378909150 1 1 LHX2 HGNC HGNC:6594 protein_coding YES CCDS6853.1 ENSP00000362717 P50458 UPI000012E659 NM_004789.3 tolerated(0.44) benign(0.011) 3/5 Gene3D:2.10.110.10,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF90,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GGC . . 4.219e-06 3.007e-05 124015381 CUBN . GRCh38 chr10 16906407 16906407 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.7708T>G p.Cys2570Gly p.C2570G ENST00000377833 50/67 78 66 12 33 33 0 CUBN,missense_variant,p.Cys2570Gly,ENST00000377833,NM_001081.3; C ENSG00000107611 ENST00000377833 Transcript missense_variant,splice_region_variant 7774/11949 7708/10872 2570/3623 C/G Tgt/Ggt 1 -1 CUBN HGNC HGNC:2548 protein_coding YES CCDS7113.1 ENSP00000367064 O60494 UPI00001AE8F4 NM_001081.3 deleterious(0) probably_damaging(0.944) 50/67 PROSITE_profiles:PS01180,cd00041,hmmpanther:PTHR44493,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854 MODERATE 1 SNV 1 1 PASS CAC . . 16906407 ZNF438 . GRCh38 chr10 30849808 30849808 + Missense_Mutation SNP G G T novel 7316-3023 BS_YKD3WYFB G G c.597C>A p.Asp199Glu p.D199E ENST00000442986 7/8 79 43 36 29 29 0 ZNF438,missense_variant,p.Asp189Glu,ENST00000452305,NM_001143771.1,NM_001143770.1;ZNF438,missense_variant,p.Asp150Glu,ENST00000538351,NM_001143769.1;ZNF438,missense_variant,p.Asp199Glu,ENST00000442986,NM_182755.2;ZNF438,missense_variant,p.Asp189Glu,ENST00000331737,;ZNF438,missense_variant,p.Asp199Glu,ENST00000436087,NM_001143768.1,NM_001143766.1;ZNF438,missense_variant,p.Asp199Glu,ENST00000361310,;ZNF438,missense_variant,p.Asp199Glu,ENST00000413025,NM_001143767.1;ZNF438,intron_variant,,ENST00000375311,;ZNF438,intron_variant,,ENST00000609683,; T ENSG00000183621 ENST00000442986 Transcript missense_variant 1032/3245 597/2487 199/828 D/E gaC/gaA 1 -1 ZNF438 HGNC HGNC:21029 protein_coding YES CCDS7168.1 ENSP00000412363 Q7Z4V0 UPI00001B3D8F NM_182755.2 tolerated(0.07) benign(0.053) 7/8 mobidb-lite,hmmpanther:PTHR44932 MODERATE 1 SNV 5 PASS GGT . . 30849808 PARD3 . GRCh38 chr10 34814994 34814994 + Translation_Start_Site SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.2T>G p.Met1? p.M1? ENST00000374789 1/25 53 47 6 32 32 0 PARD3,start_lost,p.Met1?,ENST00000374789,NM_019619.3;PARD3,start_lost,p.Met1?,ENST00000374788,NM_001184785.1;PARD3,start_lost,p.Met1?,ENST00000545693,NM_001184786.1;PARD3,start_lost,p.Met1?,ENST00000346874,NM_001184787.1;PARD3,start_lost,p.Met1?,ENST00000350537,NM_001184788.1,NM_001184789.1;PARD3,start_lost,p.Met1?,ENST00000374790,;PARD3,start_lost,p.Met1?,ENST00000545260,NM_001184790.1;PARD3,start_lost,p.Met1?,ENST00000374794,NM_001184791.1;PARD3,start_lost,p.Met1?,ENST00000340077,NM_001184792.1;PARD3,start_lost,p.Met1?,ENST00000374773,NM_001184793.1;PARD3,start_lost,p.Met1?,ENST00000374776,NM_001184794.1;PARD3-AS1,upstream_gene_variant,,ENST00000446211,;,regulatory_region_variant,,ENSR00000026869,; C ENSG00000148498 ENST00000374789 Transcript start_lost 328/6005 2/4071 1/1356 M/R aTg/aGg 1 -1 PARD3 HGNC HGNC:16051 protein_coding YES CCDS7178.1 ENSP00000363921 Q8TEW0 UPI0000073A9F NM_019619.3 deleterious(0) probably_damaging(0.998) 1/25 Pfam_domain:PF12053 HIGH 1 SNV 1 PASS CAT . . 34814994 BMS1P1 . GRCh38 chr10 46798026 46798026 + Splice_Region SNP T T C novel 7316-3023 BS_YKD3WYFB T T n.1161-3T>C ENST00000580094 77 65 12 33 33 0 BMS1P1,splice_region_variant,,ENST00000580094,;BMS1P1,splice_region_variant,,ENST00000374336,; C ENSG00000204177 ENST00000580094 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 BMS1P1 HGNC HGNC:23649 processed_transcript YES 7/8 LOW 1 SNV 5 PASS ATA . . 46798026 RBP3 . GRCh38 chr10 47350928 47350928 + Missense_Mutation SNP G G T novel 7316-3023 BS_YKD3WYFB G G c.2444G>T p.Arg815Met p.R815M ENST00000584701 1/4 89 48 41 49 48 0 RBP3,missense_variant,p.Arg815Met,ENST00000584701,NM_002900.2; T ENSG00000265203 ENST00000584701 Transcript missense_variant 2558/4276 2444/3744 815/1247 R/M aGg/aTg 1 1 RBP3 HGNC HGNC:9921 protein_coding YES CCDS73119.1 ENSP00000463151 P10745 UPI000012D87A NM_002900.2 deleterious(0) probably_damaging(1) 1/4 cd07563,hmmpanther:PTHR11261:SF3,hmmpanther:PTHR11261,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096 MODERATE 1 SNV 1 1 PASS AGG . . 47350928 RBP3 . GRCh38 chr10 47350929 47350929 + Missense_Mutation SNP G G T novel 7316-3023 BS_YKD3WYFB G G c.2445G>T p.Arg815Ser p.R815S ENST00000584701 1/4 90 47 43 49 48 0 RBP3,missense_variant,p.Arg815Ser,ENST00000584701,NM_002900.2; T ENSG00000265203 ENST00000584701 Transcript missense_variant 2559/4276 2445/3744 815/1247 R/S agG/agT 1 1 RBP3 HGNC HGNC:9921 protein_coding YES CCDS73119.1 ENSP00000463151 P10745 UPI000012D87A NM_002900.2 deleterious(0) probably_damaging(0.999) 1/4 cd07563,hmmpanther:PTHR11261:SF3,hmmpanther:PTHR11261,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096 MODERATE 1 SNV 1 1 PASS GGG . . 47350929 RTKN2 . GRCh38 chr10 62239740 62239740 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.396T>G p.Cys132Trp p.C132W ENST00000373789 5/12 71 28 43 47 47 0 RTKN2,missense_variant,p.Cys132Trp,ENST00000373789,NM_145307.3;RTKN2,missense_variant,p.Cys132Trp,ENST00000395260,NM_001282941.1;RTKN2,upstream_gene_variant,,ENST00000315289,; C ENSG00000182010 ENST00000373789 Transcript missense_variant 493/6641 396/1830 132/609 C/W tgT/tgG 1 -1 RTKN2 HGNC HGNC:19364 protein_coding YES CCDS7263.1 ENSP00000362894 Q8IZC4 UPI000007413A NM_145307.3 deleterious(0) probably_damaging(0.999) 5/12 hmmpanther:PTHR21538:SF21,hmmpanther:PTHR21538,Pfam_domain:PF08174 MODERATE 1 SNV 1 PASS AAC . . 62239740 USP54 . GRCh38 chr10 73530445 73530445 + Missense_Mutation SNP T T A novel 7316-3023 BS_YKD3WYFB T T c.1526A>T p.Lys509Ile p.K509I ENST00000339859 13/23 60 36 23 41 39 0 USP54,missense_variant,p.Lys509Ile,ENST00000339859,NM_152586.3,NM_001320437.1;USP54,upstream_gene_variant,,ENST00000422491,;RNU6-883P,upstream_gene_variant,,ENST00000384597,;USP54,non_coding_transcript_exon_variant,,ENST00000497106,;USP54,upstream_gene_variant,,ENST00000480210,;USP54,missense_variant,p.Lys307Ile,ENST00000424265,;USP54,missense_variant,p.Lys84Ile,ENST00000466048,;USP54,missense_variant,p.Lys70Ile,ENST00000418501,;USP54,non_coding_transcript_exon_variant,,ENST00000498143,; A ENSG00000166348 ENST00000339859 Transcript missense_variant 1627/6247 1526/5055 509/1684 K/I aAa/aTa 1 -1 USP54 HGNC HGNC:23513 protein_coding YES CCDS7329.2 ENSP00000345216 Q70EL1 UPI0000DFF136 NM_152586.3,NM_001320437.1 deleterious(0) probably_damaging(0.998) 13/23 hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF5,mobidb-lite MODERATE 1 SNV 5 PASS TTT . . 73530445 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 72 59 9 27 27 0 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 OR10A4 . GRCh38 chr11 6877113 6877113 + Missense_Mutation SNP G G T novel 7316-3023 BS_YKD3WYFB G G c.466G>T p.Val156Leu p.V156L ENST00000379829 1/1 100 90 10 41 40 0 OR10A4,missense_variant,p.Val156Leu,ENST00000379829,NM_207186.2;OR10A2,downstream_gene_variant,,ENST00000641461,;AC087280.2,intron_variant,,ENST00000637205,; T ENSG00000170782 ENST00000379829 Transcript missense_variant 489/995 466/948 156/315 V/L Gtg/Ttg 1 1 OR10A4 HGNC HGNC:15130 protein_coding YES CCDS7774.1 ENSP00000369157 Q9H209 UPI000013EBED NM_207186.2 tolerated(0.08) benign(0.361) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF9,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15225 MODERATE SNV PASS AGT . . 6877113 PTPN5 . GRCh38 chr11 18742989 18742989 + Splice_Region SNP T T C rs1161270821 7316-3023 BS_YKD3WYFB T T c.483+3A>G ENST00000358540 85 47 36 43 42 1 PTPN5,splice_region_variant,,ENST00000358540,NM_006906.1,NM_032781.3;PTPN5,splice_region_variant,,ENST00000396168,NM_001278238.1,NM_001278239.1;PTPN5,splice_region_variant,,ENST00000396170,NM_001039970.1,NM_001278236.1;PTPN5,splice_region_variant,,ENST00000477854,;AC103974.1,downstream_gene_variant,,ENST00000527285,;PTPN5,splice_region_variant,,ENST00000496201,; C ENSG00000110786 ENST00000358540 Transcript splice_region_variant,intron_variant rs1161270821 1 -1 PTPN5 HGNC HGNC:9657 protein_coding YES CCDS7845.1 ENSP00000351342 P54829 UPI00001AE663 NM_006906.1,NM_032781.3 6/14 LOW 1 SNV 1 PASS TTA . . 6.702e-06 1.745e-05 18742989 SLC17A6 . GRCh38 chr11 22376027 22376027 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.1220A>C p.His407Pro p.H407P ENST00000263160 10/12 71 62 7 48 48 0 SLC17A6,missense_variant,p.His407Pro,ENST00000263160,NM_020346.2; C ENSG00000091664 ENST00000263160 Transcript missense_variant 1657/3949 1220/1749 407/582 H/P cAt/cCt 1 1 SLC17A6 HGNC HGNC:16703 protein_coding YES CCDS7856.1 ENSP00000263160 Q9P2U8 UPI0000073F14 NM_020346.2 deleterious(0.03) possibly_damaging(0.611) 10/12 Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF201,Superfamily_domains:SSF103473,cd06174 MODERATE 1 SNV 1 PASS CAT . . 22376027 CPSF7 . GRCh38 chr11 61416172 61416172 + Missense_Mutation SNP T T G novel 7316-3023 BS_YKD3WYFB T T c.1027A>C p.Asn343His p.N343H ENST00000340437 6/10 87 78 7 49 48 1 CPSF7,missense_variant,p.Asn343His,ENST00000340437,NM_024811.3;CPSF7,missense_variant,p.Asn300His,ENST00000394888,NM_001136040.2;CPSF7,missense_variant,p.Asn291His,ENST00000439958,NM_001142565.1;CPSF7,missense_variant,p.Asn291His,ENST00000448745,;CPSF7,intron_variant,,ENST00000477890,;CPSF7,downstream_gene_variant,,ENST00000413184,;CPSF7,downstream_gene_variant,,ENST00000413232,;CPSF7,downstream_gene_variant,,ENST00000449811,;CPSF7,downstream_gene_variant,,ENST00000450000,;CPSF7,downstream_gene_variant,,ENST00000539952,;CPSF7,downstream_gene_variant,,ENST00000541963,;CPSF7,downstream_gene_variant,,ENST00000544585,;CPSF7,downstream_gene_variant,,ENST00000463244,;CPSF7,downstream_gene_variant,,ENST00000545934,;CPSF7,non_coding_transcript_exon_variant,,ENST00000537641,;CPSF7,downstream_gene_variant,,ENST00000535222,;CPSF7,downstream_gene_variant,,ENST00000536145,;CPSF7,downstream_gene_variant,,ENST00000536548,;CPSF7,downstream_gene_variant,,ENST00000537162,;CPSF7,downstream_gene_variant,,ENST00000543545,;CPSF7,downstream_gene_variant,,ENST00000544669,;CPSF7,downstream_gene_variant,,ENST00000544990,; G ENSG00000149532 ENST00000340437 Transcript missense_variant 1108/3695 1027/1545 343/514 N/H Aac/Cac 1 -1 CPSF7 HGNC HGNC:30098 protein_coding YES CCDS8006.2 ENSP00000345412 Q8N684 UPI0001881B56 NM_024811.3 tolerated(0.08) possibly_damaging(0.717) 6/10 hmmpanther:PTHR23204:SF2,hmmpanther:PTHR23204 MODERATE 1 SNV 1 PASS TTT . . 61416172 DPP3 . GRCh38 chr11 66491384 66491384 + Splice_Site SNP G G T novel 7316-3023 BS_YKD3WYFB G G c.798+1G>T p.X266_splice ENST00000541961 65 38 25 42 42 0 DPP3,splice_donor_variant,,ENST00000530165,NM_001256670.1;DPP3,splice_donor_variant,,ENST00000531863,;DPP3,splice_donor_variant,,ENST00000532677,;DPP3,splice_donor_variant,,ENST00000533725,;DPP3,splice_donor_variant,,ENST00000541961,NM_130443.3,NM_005700.4;DPP3,downstream_gene_variant,,ENST00000526515,;DPP3,downstream_gene_variant,,ENST00000531354,;DPP3,downstream_gene_variant,,ENST00000532019,;DPP3,upstream_gene_variant,,ENST00000525738,;DPP3,downstream_gene_variant,,ENST00000531272,;DPP3,upstream_gene_variant,,ENST00000533799,;DPP3,downstream_gene_variant,,ENST00000544603,;DPP3,upstream_gene_variant,,ENST00000526250,;DPP3,upstream_gene_variant,,ENST00000526667,;,regulatory_region_variant,,ENSR00000040976,; T ENSG00000254986 ENST00000541961 Transcript splice_donor_variant 1 1 DPP3 HGNC HGNC:3008 protein_coding YES CCDS8141.1 ENSP00000440502 Q9NY33 UPI000012983B NM_130443.3,NM_005700.4 7/17 HIGH 1 SNV 5 PASS GGT . . 66491384 SLCO1A2 . GRCh38 chr12 21304580 21304581 + Splice_Region INS - - A rs745526406 7316-3023 BS_YKD3WYFB - - c.443-8dup ENST00000307378 33 27 6 36 36 0 SLCO1A2,splice_region_variant,,ENST00000307378,NM_134431.3,NM_021094.3;SLCO1A2,splice_region_variant,,ENST00000413682,;SLCO1A2,splice_region_variant,,ENST00000458504,;SLCO1A2,downstream_gene_variant,,ENST00000422327,;SLCO1A2,downstream_gene_variant,,ENST00000453443,;SLCO1A2,splice_region_variant,,ENST00000463718,;SLCO1A2,splice_region_variant,,ENST00000480394,;SLCO1A2,splice_region_variant,,ENST00000544020,;SLCO1A2,splice_region_variant,,ENST00000544290,; A ENSG00000084453 ENST00000307378 Transcript splice_region_variant,intron_variant rs745526406,TMP_ESP_12_21457515_21457515 1 -1 SLCO1A2 HGNC HGNC:10956 protein_coding YES CCDS8686.1 ENSP00000305974 P46721 A0A024RAT5 UPI0000037575 NM_134431.3,NM_021094.3 6/15 0.0061 0.0014 0.005 0.008 0.0041 0.0002345 0.001212 LOW 1 insertion 1 PASS TTA . . 0.01603 0.002893 0.03493 0.02889 0.01177 0.008407 0.01393 0.02506 0.02338 21304580 MON2 . GRCh38 chr12 62532677 62532677 + Splice_Region SNP G G A novel 7316-3023 BS_YKD3WYFB G G c.1633+7G>A ENST00000393630 67 61 6 41 41 0 MON2,splice_region_variant,,ENST00000393629,NM_001278470.1;MON2,splice_region_variant,,ENST00000393630,NM_015026.2,NM_001278472.1;MON2,splice_region_variant,,ENST00000546600,NM_001278469.1;MON2,splice_region_variant,,ENST00000552115,;MON2,splice_region_variant,,ENST00000552738,NM_001278471.1;MON2,splice_region_variant,,ENST00000641654,;MON2,splice_region_variant,,ENST00000547095,; A ENSG00000061987 ENST00000393630 Transcript splice_region_variant,intron_variant 1 1 MON2 HGNC HGNC:29177 protein_coding YES CCDS31849.1 ENSP00000377250 Q7Z3U7 UPI00001AEA4C NM_015026.2,NM_001278472.1 12/34 LOW 1 SNV 1 PASS AGT . . 62532677 GOLGA3 . GRCh38 chr12 132798481 132798481 + Splice_Region DEL A A - rs112384794 7316-3023 BS_YKD3WYFB A A c.1801-4del ENST00000204726 68 55 5 32 31 0 GOLGA3,splice_region_variant,,ENST00000204726,NM_005895.3;GOLGA3,splice_region_variant,,ENST00000450791,;GOLGA3,splice_region_variant,,ENST00000456883,;GOLGA3,splice_region_variant,,ENST00000545875,NM_001172557.1; - ENSG00000090615 ENST00000204726 Transcript splice_region_variant,intron_variant rs112384794,TMP_ESP_12_133375067_133375067,COSM1605848,COSM1180771,COSM1180770 1 -1 GOLGA3 HGNC HGNC:4426 protein_coding YES CCDS9281.1 ENSP00000204726 Q08378 UPI0000190979 NM_005895.3 8/23 0.04386 0.04471 0,0,1,1,1 LOW 1 deletion 5 0,0,1,1,1 PASS TTAA . . 0.004258 0.002284 0.005201 0.008803 0.004445 0.005644 0.003271 0.007651 0.006339 132798480 LINC01055 . GRCh38 chr13 45685063 45685063 + Splice_Site SNP C C A novel 7316-3023 BS_YKD3WYFB C C n.295+1G>T ENST00000435067 60 53 7 38 36 0 LINC01055,splice_donor_variant,,ENST00000435067,;AKR1B1P4,downstream_gene_variant,,ENST00000426552,; A ENSG00000235366 ENST00000435067 Transcript splice_donor_variant,non_coding_transcript_variant 1 -1 LINC01055 HGNC HGNC:49049 lincRNA YES 2/3 HIGH 1 SNV 3 PASS ACC . . 45685063 ARGLU1 . GRCh38 chr13 106567726 106567726 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.194T>G p.Val65Gly p.V65G ENST00000400198 1/4 97 76 13 40 40 0 ARGLU1,missense_variant,p.Val65Gly,ENST00000400198,NM_018011.3;ARGLU1,upstream_gene_variant,,ENST00000360629,;,regulatory_region_variant,,ENSR00000065521,; C ENSG00000134884 ENST00000400198 Transcript missense_variant 439/3390 194/822 65/273 V/G gTg/gGg 1 -1 ARGLU1 HGNC HGNC:25482 protein_coding YES CCDS41906.1 ENSP00000383059 Q9NWB6 A0A024RDW4 UPI00000373ED NM_018011.3 tolerated(0.25) benign(0) 1/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR31711:SF1,hmmpanther:PTHR31711 MODERATE 1 SNV 1 PASS CAC . . 106567726 BTBD7 . GRCh38 chr14 93251615 93251615 + Missense_Mutation SNP A A T novel 7316-3023 BS_YKD3WYFB A A c.1790T>A p.Leu597His p.L597H ENST00000334746 8/11 86 53 33 29 29 0 BTBD7,missense_variant,p.Leu597His,ENST00000334746,NM_001002860.3;BTBD7,missense_variant,p.Leu246His,ENST00000554565,NM_001289133.1;BTBD7,missense_variant,p.Leu212His,ENST00000553975,;BTBD7,3_prime_UTR_variant,,ENST00000355125,;BTBD7,downstream_gene_variant,,ENST00000554644,; T ENSG00000011114 ENST00000334746 Transcript missense_variant 2098/8430 1790/3399 597/1132 L/H cTt/cAt 1 -1 BTBD7 HGNC HGNC:18269 protein_coding YES CCDS32146.1 ENSP00000335615 Q9P203 UPI00001FDA78 NM_001002860.3 deleterious(0) probably_damaging(0.995) 8/11 hmmpanther:PTHR16064 MODERATE 1 SNV 1 PASS AAG . . 93251615 IGHV3-72 . GRCh38 chr14 106790717 106790717 + Missense_Mutation SNP T T G novel 7316-3023 BS_YKD3WYFB T T c.277A>C p.Thr93Pro p.T93P ENST00000621503 1/1 90 79 9 39 39 0 IGHV3-72,missense_variant,p.Thr93Pro,ENST00000621503,;IGHV3-72,missense_variant,p.Thr112Pro,ENST00000433072,;,regulatory_region_variant,,ENSR00000073909,;,regulatory_region_variant,,ENSR00000276431,; G ENSG00000225698 ENST00000621503 Transcript missense_variant 277/303 277/303 93/101 T/P Acg/Ccg 1 -1 IGHV3-72 HGNC HGNC:5622 protein_coding YES ENSP00000480035 UPI0004E4CB3E deleterious_low_confidence(0) possibly_damaging(0.837) 1/1 Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF204,SMART_domains:SM00406,Superfamily_domains:SSF48726 MODERATE 1 SNV PASS GTG . . 106790717 GOLGA6L7 . GRCh38 chr15 28842756 28842756 + Missense_Mutation SNP T T C rs1363294493 7316-3023 BS_YKD3WYFB T T c.1348A>G p.Met450Val p.M450V ENST00000567390 9/9 61 48 8 40 38 0 GOLGA6L7,missense_variant,p.Met450Val,ENST00000567390,;PDCD6IPP2,intron_variant,,ENST00000564604,;PDCD6IPP2,intron_variant,,ENST00000566178,;PDCD6IPP2,downstream_gene_variant,,ENST00000563144,;GOLGA6L7,downstream_gene_variant,,ENST00000569815,; C ENSG00000261649 ENST00000567390 Transcript missense_variant 1474/2397 1348/1869 450/622 M/V Atg/Gtg rs1363294493 1 -1 GOLGA6L7 HGNC HGNC:37442 protein_coding YES ENSP00000490318 A0A1B0GV03 UPI0007E52AB8 tolerated(0.4) unknown(0) 9/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 28842756 GOLGA8Q . GRCh38 chr15 30556623 30556623 + Missense_Mutation SNP C C T rs200216281 7316-3023 BS_YKD3WYFB C C c.514C>T p.His172Tyr p.H172Y ENST00000562783 8/19 89 66 22 20 20 0 GOLGA8Q,missense_variant,p.His172Tyr,ENST00000562783,NM_001355476.1;RN7SL796P,upstream_gene_variant,,ENST00000613991,;GOLGA8Q,upstream_gene_variant,,ENST00000565941,; T ENSG00000178115 ENST00000562783 Transcript missense_variant 514/1899 514/1899 172/632 H/Y Cat/Tat rs200216281 1 1 GOLGA8Q HGNC HGNC:44408 protein_coding YES ENSP00000457904 H3BV12 UPI0000DD8290 NM_001355476.1 tolerated(0.98) benign(0.009) 8/19 Gene3D:1.20.5.340,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF59 MODERATE 1 SNV 5 PASS ACA . . 0.1402 0.2501 0.209 0.1112 0.07562 0.1611 0.1101 0.1072 0.1174 30556623 GOLGA6L10 . GRCh38 chr15 82345046 82345046 + Missense_Mutation SNP G G A rs866101815 7316-3023 BS_YKD3WYFB G G c.814C>T p.Arg272Cys p.R272C ENST00000610657 6/9 56 37 16 26 23 0 GOLGA6L10,missense_variant,p.Arg238Cys,ENST00000619556,;GOLGA6L10,missense_variant,p.Arg272Cys,ENST00000610657,NM_001164465.3;GOLGA6L10,intron_variant,,ENST00000621197,;GOLGA6L10,downstream_gene_variant,,ENST00000558035,; A ENSG00000278662 ENST00000610657 Transcript missense_variant 914/1705 814/1569 272/522 R/C Cgt/Tgt rs866101815 1 -1 GOLGA6L10 HGNC HGNC:37228 protein_coding YES CCDS45325.2 ENSP00000479362 A6NI86 UPI0003EAF95A NM_001164465.3 deleterious(0.01) benign(0.042) 6/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF19,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CGT . . 0.0189 0.0786 0.01934 0.015 0.038 0.005597 0.007385 0.02358 0.004155 82345046 SPATA8 . GRCh38 chr15 96783663 96783663 + Missense_Mutation SNP C C T rs768208250 7316-3023 BS_YKD3WYFB C C c.8C>T p.Pro3Leu p.P3L ENST00000328504 1/3 79 46 33 37 37 0 SPATA8,missense_variant,p.Pro3Leu,ENST00000328504,NM_173499.4;SPATA8,intron_variant,,ENST00000558553,NM_001304805.1,NM_001304804.1,NM_001304806.1;SPATA8-AS1,upstream_gene_variant,,ENST00000558722,;SPATA8-AS1,upstream_gene_variant,,ENST00000560888,;SPATA8,non_coding_transcript_exon_variant,,ENST00000560327,;SPATA8,non_coding_transcript_exon_variant,,ENST00000561002,; T ENSG00000185594 ENST00000328504 Transcript missense_variant 275/1083 8/318 3/105 P/L cCg/cTg rs768208250,COSM3402033 1 1 SPATA8 HGNC HGNC:28676 protein_coding YES CCDS10376.1 ENSP00000328149 Q6RVD6 A0A140VK52 UPI000006FC10 NM_173499.4 tolerated_low_confidence(1) benign(0) 1/3 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 1.221e-05 6.539e-05 6.51e-05 96783663 PKD1 . GRCh38 chr16 2091518 2091518 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.11617T>G p.Phe3873Val p.F3873V ENST00000262304 42/46 83 71 12 33 33 0 PKD1,missense_variant,p.Phe3873Val,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Phe3872Val,ENST00000423118,NM_000296.3;TSC2,downstream_gene_variant,,ENST00000219476,NM_000548.4;TSC2,downstream_gene_variant,,ENST00000350773,NM_001114382.2;TSC2,downstream_gene_variant,,ENST00000382538,NM_001318829.1;TSC2,downstream_gene_variant,,ENST00000401874,NM_001077183.2;TSC2,downstream_gene_variant,,ENST00000439673,NM_001318827.1;TSC2,downstream_gene_variant,,ENST00000568454,NM_001318832.1;TSC2,downstream_gene_variant,,ENST00000642365,;TSC2,downstream_gene_variant,,ENST00000642561,;TSC2,downstream_gene_variant,,ENST00000642797,;TSC2,downstream_gene_variant,,ENST00000642936,NM_001318831.1;TSC2,downstream_gene_variant,,ENST00000643088,;TSC2,downstream_gene_variant,,ENST00000643946,;TSC2,downstream_gene_variant,,ENST00000644043,;TSC2,downstream_gene_variant,,ENST00000644329,;TSC2,downstream_gene_variant,,ENST00000644335,;TSC2,downstream_gene_variant,,ENST00000644399,;TSC2,downstream_gene_variant,,ENST00000646388,;MIR1225,upstream_gene_variant,,ENST00000408729,;AC009065.2,non_coding_transcript_exon_variant,,ENST00000570072,;AC009065.2,upstream_gene_variant,,ENST00000563284,;AC009065.5,downstream_gene_variant,,ENST00000565937,;TSC2,downstream_gene_variant,,ENST00000642728,;TSC2,downstream_gene_variant,,ENST00000646634,;PKD1,3_prime_UTR_variant,,ENST00000487932,;PKD1,3_prime_UTR_variant,,ENST00000561668,;PKD1,non_coding_transcript_exon_variant,,ENST00000485120,;PKD1,intron_variant,,ENST00000564313,;TSC2,downstream_gene_variant,,ENST00000439117,;PKD1,upstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000472659,;TSC2,downstream_gene_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000562425,;PKD1,downstream_gene_variant,,ENST00000567355,;PKD1,downstream_gene_variant,,ENST00000568796,;TSC2,downstream_gene_variant,,ENST00000569110,;TSC2,downstream_gene_variant,,ENST00000569930,;TSC2,downstream_gene_variant,,ENST00000642791,;TSC2,downstream_gene_variant,,ENST00000643177,;TSC2,downstream_gene_variant,,ENST00000643426,;TSC2,downstream_gene_variant,,ENST00000644278,;TSC2,downstream_gene_variant,,ENST00000645024,;TSC2,downstream_gene_variant,,ENST00000646557,;TSC2,downstream_gene_variant,,ENST00000646674,;TSC2,downstream_gene_variant,,ENST00000647042,;TSC2,downstream_gene_variant,,ENST00000647180,;,regulatory_region_variant,,ENSR00000082436,; C ENSG00000008710 ENST00000262304 Transcript missense_variant 11826/14138 11617/12912 3873/4303 F/V Ttc/Gtc 1 -1 PKD1 HGNC HGNC:9008 protein_coding YES CCDS32369.1 ENSP00000262304 P98161 UPI00001B0454 NM_001009944.2 deleterious(0.01) probably_damaging(1) 42/46 Pfam_domain:PF08016,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF175 MODERATE 1 SNV 1 1 PASS AAC . . 2091518 WDR59 . GRCh38 chr16 74908984 74908984 + Splice_Region SNP G G A rs199978446 7316-3023 BS_YKD3WYFB G G c.1643-7C>T ENST00000262144 92 78 14 41 40 1 WDR59,splice_region_variant,,ENST00000262144,NM_030581.3;WDR59,splice_region_variant,,ENST00000569229,;WDR59,splice_region_variant,,ENST00000616369,NM_001324171.1;WDR59,downstream_gene_variant,,ENST00000536050,NM_001324172.1;WDR59,upstream_gene_variant,,ENST00000563797,;WDR59,splice_region_variant,,ENST00000570070,;WDR59,intron_variant,,ENST00000566924,;WDR59,downstream_gene_variant,,ENST00000562371,;WDR59,downstream_gene_variant,,ENST00000562539,;WDR59,upstream_gene_variant,,ENST00000563381,;WDR59,downstream_gene_variant,,ENST00000569549,;WDR59,upstream_gene_variant,,ENST00000569788,; A ENSG00000103091 ENST00000262144 Transcript splice_region_variant,intron_variant rs199978446,COSM4773229 1 -1 WDR59 HGNC HGNC:25706 protein_coding YES CCDS32488.1 ENSP00000262144 Q6PJI9 UPI000019839C NM_030581.3 16/25 0,1 LOW 1 SNV 5 0,1 PASS GGA . . 0.008739 0.005352 0.001675 0.006003 0.00708 0.01821 0.01272 0.005458 0.001927 74908984 OR1G1 . GRCh38 chr17 3127178 3127178 + Missense_Mutation SNP G G A novel 7316-3023 BS_YKD3WYFB G G c.374C>T p.Ala125Val p.A125V ENST00000328890 1/1 33 28 5 46 46 0 OR1G1,missense_variant,p.Ala125Val,ENST00000328890,NM_003555.1; A ENSG00000183024 ENST00000328890 Transcript missense_variant 404/998 374/942 125/313 A/V gCc/gTc 1 -1 OR1G1 HGNC HGNC:8204 protein_coding YES CCDS11020.1 ENSP00000331545 P47890 A0A126GW57 UPI0000041B68 NM_003555.1 deleterious(0) benign(0.264) 1/1 PROSITE_profiles:PS50262,cd15918,hmmpanther:PTHR26451:SF247,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237 MODERATE 1 SNV PASS GGC . . 3127178 TP53 . GRCh38 chr17 7674894 7674894 + Nonsense_Mutation SNP G A A rs397516436 7316-3023 BS_YKD3WYFB G G c.637C>T p.Arg213Ter p.R213* ENST00000269305 6/11 37 0 36 35 35 0 TP53,stop_gained,p.Arg213Ter,ENST00000617185,NM_001126114.2;TP53,stop_gained,p.Arg213Ter,ENST00000420246,;TP53,stop_gained,p.Arg174Ter,ENST00000622645,NM_001276696.1;TP53,stop_gained,p.Arg174Ter,ENST00000610292,NM_001126118.1;TP53,stop_gained,p.Arg213Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Arg174Ter,ENST00000610538,;TP53,stop_gained,p.Arg213Ter,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,stop_gained,p.Arg174Ter,ENST00000620739,;TP53,stop_gained,p.Arg213Ter,ENST00000445888,;TP53,stop_gained,p.Arg174Ter,ENST00000619485,;TP53,stop_gained,p.Arg81Ter,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,stop_gained,p.Arg54Ter,ENST00000618944,;TP53,stop_gained,p.Arg81Ter,ENST00000504290,;TP53,stop_gained,p.Arg54Ter,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,stop_gained,p.Arg81Ter,ENST00000504937,;TP53,stop_gained,p.Arg54Ter,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,stop_gained,p.Arg213Ter,ENST00000359597,;TP53,stop_gained,p.Arg202Ter,ENST00000615910,;TP53,stop_gained,p.Arg213Ter,ENST00000413465,;TP53,stop_gained,p.Arg81Ter,ENST00000509690,;TP53,stop_gained,p.Arg120Ter,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,intron_variant,,ENST00000574684,;TP53,stop_gained,p.Arg174Ter,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,; A ENSG00000141510 ENST00000269305 Transcript stop_gained 827/2579 637/1182 213/393 R/* Cga/Tga rs397516436,CM951226,COSM99618,COSM99617,COSM99616,COSM99615,COSM707891,COSM707890,COSM707889,COSM707888,COSM6503267,COSM6474343,COSM6474342,COSM6474341,COSM6474340,COSM6474339,COSM6474338,COSM4862567,COSM4862566,COSM44102,COSM43807,COSM43798,COSM3378350,COSM1638393,COSM10654 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 6/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 likely_pathogenic,pathogenic 0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 24033266,9667734,16401470,20522432,11479205,7887414,8134126,10486318,16534790,21225465,21552135,21626334,22203015 HIGH 1 SNV 1 1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS CGA . . 7674894 SLC4A1 . GRCh38 chr17 44255239 44255239 + Missense_Mutation SNP C A A novel 7316-3023 BS_YKD3WYFB C C c.1858G>T p.Val620Leu p.V620L ENST00000262418 15/20 46 6 40 49 48 0 SLC4A1,missense_variant,p.Val620Leu,ENST00000262418,NM_000342.3;SLC4A1,intron_variant,,ENST00000399246,; A ENSG00000004939 ENST00000262418 Transcript missense_variant 2007/4958 1858/2736 620/911 V/L Gtg/Ttg 1 -1 SLC4A1 HGNC HGNC:11027 protein_coding YES CCDS11481.1 ENSP00000262418 P02730 UPI00000375B8 NM_000342.3 tolerated(0.25) benign(0.101) 15/20 Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS ACC . . 44255239 GATA6 . GRCh38 chr18 22172073 22172073 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.929A>C p.Tyr310Ser p.Y310S ENST00000269216 2/7 76 65 11 31 30 0 GATA6,missense_variant,p.Tyr310Ser,ENST00000269216,NM_005257.5;GATA6,missense_variant,p.Tyr310Ser,ENST00000581694,;GATA6-AS1,upstream_gene_variant,,ENST00000579431,;GATA6-AS1,upstream_gene_variant,,ENST00000583490,;GATA6-AS1,upstream_gene_variant,,ENST00000584201,;GATA6-AS1,upstream_gene_variant,,ENST00000584373,;AC091588.1,downstream_gene_variant,,ENST00000578504,;,regulatory_region_variant,,ENSR00000285324,; C ENSG00000141448 ENST00000269216 Transcript missense_variant 1206/3770 929/1788 310/595 Y/S tAc/tCc 1 1 GATA6 HGNC HGNC:4174 protein_coding YES CCDS11872.1 ENSP00000269216 Q92908 UPI0000201AC8 NM_005257.5 deleterious(0.01) probably_damaging(0.928) 2/7 Pfam_domain:PF05349,PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF23,mobidb-lite MODERATE 1 SNV 1 1 PASS TAC . . 22172073 GATA6 . GRCh38 chr18 22172075 22172075 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.931A>C p.Ser311Arg p.S311R ENST00000269216 2/7 76 63 13 30 29 0 GATA6,missense_variant,p.Ser311Arg,ENST00000269216,NM_005257.5;GATA6,missense_variant,p.Ser311Arg,ENST00000581694,;GATA6-AS1,upstream_gene_variant,,ENST00000579431,;GATA6-AS1,upstream_gene_variant,,ENST00000583490,;GATA6-AS1,upstream_gene_variant,,ENST00000584201,;GATA6-AS1,upstream_gene_variant,,ENST00000584373,;AC091588.1,downstream_gene_variant,,ENST00000578504,;,regulatory_region_variant,,ENSR00000285324,; C ENSG00000141448 ENST00000269216 Transcript missense_variant 1208/3770 931/1788 311/595 S/R Agc/Cgc 1 1 GATA6 HGNC HGNC:4174 protein_coding YES CCDS11872.1 ENSP00000269216 Q92908 UPI0000201AC8 NM_005257.5 deleterious(0.04) benign(0.044) 2/7 Pfam_domain:PF05349,PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF23,mobidb-lite MODERATE 1 SNV 1 1 PASS CAG . . 22172075 CCDC178 . GRCh38 chr18 33346319 33346319 + Missense_Mutation SNP C C T rs71363411 7316-3023 BS_YKD3WYFB C C c.550G>A p.Ala184Thr p.A184T ENST00000583930 8/23 56 25 31 32 31 0 CCDC178,missense_variant,p.Ala184Thr,ENST00000383096,;CCDC178,missense_variant,p.Ala184Thr,ENST00000403303,NM_001105528.1;CCDC178,missense_variant,p.Ala184Thr,ENST00000583930,NM_001308126.1;CCDC178,missense_variant,p.Ala184Thr,ENST00000300227,NM_198995.2;CCDC178,missense_variant,p.Ala184Thr,ENST00000406524,;CCDC178,missense_variant,p.Ala184Thr,ENST00000579947,;CCDC178,intron_variant,,ENST00000579916,;CCDC178,missense_variant,p.Ala184Thr,ENST00000399177,;CCDC178,upstream_gene_variant,,ENST00000577268,; T ENSG00000166960 ENST00000583930 Transcript missense_variant 629/3094 550/2676 184/891 A/T Gct/Act rs71363411,COSM5548942,COSM5548941 1 -1 CCDC178 HGNC HGNC:29588 protein_coding YES CCDS77174.1 ENSP00000463254 F8W7A7 UPI00020655A5 NM_001308126.1 deleterious(0) probably_damaging(0.999) 8/23 Gene3D:1.20.1170.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR35088 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GCG . . 7.719e-05 5.961e-05 0.0005077 0.00029 6.269e-05 33346319 ZNF554 . GRCh38 chr19 2833885 2833885 + Missense_Mutation SNP C C A novel 7316-3023 BS_YKD3WYFB C C c.650C>A p.Thr217Asn p.T217N ENST00000317243 5/5 91 84 6 34 34 0 ZNF554,missense_variant,p.Thr217Asn,ENST00000317243,NM_001102651.1;ZNF554,3_prime_UTR_variant,,ENST00000591265,;ZNF554,3_prime_UTR_variant,,ENST00000590116,;ZNF554,non_coding_transcript_exon_variant,,ENST00000588534,; A ENSG00000172006 ENST00000317243 Transcript missense_variant 848/2736 650/1617 217/538 T/N aCt/aAt 1 1 ZNF554 HGNC HGNC:26629 protein_coding YES CCDS42462.1 ENSP00000321132 Q86TJ5 UPI000000DC5D NM_001102651.1 tolerated(0.3) benign(0.014) 5/5 hmmpanther:PTHR24381:SF56,hmmpanther:PTHR24381 MODERATE 1 SNV 1 PASS ACT . . 2833885 MLLT1 . GRCh38 chr19 6222426 6222426 + Missense_Mutation SNP T T G novel 7316-3023 BS_YKD3WYFB T T c.805A>C p.Lys269Gln p.K269Q ENST00000252674 6/12 74 57 14 33 30 2 MLLT1,missense_variant,p.Lys269Gln,ENST00000252674,NM_005934.3; G ENSG00000130382 ENST00000252674 Transcript missense_variant 969/4507 805/1680 269/559 K/Q Aag/Cag 1 -1 MLLT1 HGNC HGNC:7134 protein_coding YES CCDS12160.1 ENSP00000252674 Q03111 UPI000006F7B3 NM_005934.3 tolerated(0.37) possibly_damaging(0.723) 6/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23195:SF14,hmmpanther:PTHR23195 MODERATE 1 SNV 1 1 PASS TTG . . 6222426 HNRNPM . GRCh38 chr19 8486269 8486269 + Missense_Mutation SNP G G T novel 7316-3023 BS_YKD3WYFB G G c.1841G>T p.Gly614Val p.G614V ENST00000325495 14/16 108 103 5 37 37 0 HNRNPM,missense_variant,p.Gly575Val,ENST00000348943,NM_031203.3;HNRNPM,missense_variant,p.Gly614Val,ENST00000325495,NM_005968.4;HNRNPM,missense_variant,p.Gly614Val,ENST00000620401,NM_001297418.1;HNRNPM,missense_variant,p.Gly382Val,ENST00000597270,;HNRNPM,missense_variant,p.Gly137Val,ENST00000596295,;HNRNPM,missense_variant,p.Gly38Val,ENST00000598999,;PRAM1,downstream_gene_variant,,ENST00000423345,NM_032152.4;HNRNPM,downstream_gene_variant,,ENST00000594907,;HNRNPM,downstream_gene_variant,,ENST00000600092,;HNRNPM,non_coding_transcript_exon_variant,,ENST00000597081,;HNRNPM,upstream_gene_variant,,ENST00000602219,;HNRNPM,3_prime_UTR_variant,,ENST00000600806,;PRAM1,downstream_gene_variant,,ENST00000594696,;HNRNPM,downstream_gene_variant,,ENST00000598603,;PRAM1,downstream_gene_variant,,ENST00000599698,; T ENSG00000099783 ENST00000325495 Transcript missense_variant 1882/2494 1841/2193 614/730 G/V gGt/gTt 1 1 HNRNPM HGNC HGNC:5046 protein_coding YES CCDS12203.1 ENSP00000325376 P52272 UPI000006E7A2 NM_005968.4 deleterious(0.01) benign(0) 14/16 Low_complexity_(Seg):seg,hmmpanther:PTHR23003:SF6,hmmpanther:PTHR23003 MODERATE 1 SNV 1 PASS GGT . . 8486269 TNPO2 . GRCh38 chr19 12701356 12701356 + Missense_Mutation SNP T T A novel 7316-3023 BS_YKD3WYFB T T c.2684A>T p.Tyr895Phe p.Y895F ENST00000425528 25/26 93 66 23 36 36 0 TNPO2,missense_variant,p.Tyr895Phe,ENST00000425528,;TNPO2,missense_variant,p.Tyr885Phe,ENST00000450764,;TNPO2,missense_variant,p.Tyr885Phe,ENST00000356861,NM_013433.4;TNPO2,missense_variant,p.Tyr885Phe,ENST00000588216,NM_001136195.1;TNPO2,missense_variant,p.Tyr895Phe,ENST00000592287,NM_001136196.1;TNPO2,missense_variant,p.Tyr115Phe,ENST00000589149,;FBXW9,upstream_gene_variant,,ENST00000393261,NM_032301.2;FBXW9,upstream_gene_variant,,ENST00000587955,;TNPO2,downstream_gene_variant,,ENST00000585886,;TNPO2,downstream_gene_variant,,ENST00000587068,;TNPO2,downstream_gene_variant,,ENST00000587155,;FBXW9,upstream_gene_variant,,ENST00000587296,;TNPO2,downstream_gene_variant,,ENST00000588491,;TNPO2,downstream_gene_variant,,ENST00000589572,; A ENSG00000105576 ENST00000425528 Transcript missense_variant 3042/5122 2684/2694 895/897 Y/F tAt/tTt 1 -1 TNPO2 HGNC HGNC:19998 protein_coding YES CCDS45991.1 ENSP00000407182 O14787 UPI000013F0EA deleterious(0.01) possibly_damaging(0.519) 25/26 Gene3D:1.25.10.10,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF17 MODERATE SNV 5 PASS ATA . . 12701356 SLC5A5 . GRCh38 chr19 17874506 17874506 + Missense_Mutation SNP G G A 7316-3023 BS_YKD3WYFB G G c.436G>A p.Gly146Ser p.G146S ENST00000222248 3/15 87 47 37 26 26 0 SLC5A5,missense_variant,p.Gly146Ser,ENST00000222248,NM_000453.2;AC005796.1,upstream_gene_variant,,ENST00000623214,;,regulatory_region_variant,,ENSR00000107971,; A ENSG00000105641 ENST00000222248 Transcript missense_variant 783/3576 436/1932 146/643 G/S Ggc/Agc COSM5808748 1 1 SLC5A5 HGNC HGNC:11040 protein_coding YES CCDS12368.1 ENSP00000222248 Q92911 UPI00001359F6 NM_000453.2 deleterious(0.02) probably_damaging(0.956) 3/15 Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR42985,hmmpanther:PTHR42985:SF11,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix,cd11503 1 MODERATE 1 SNV 1 1 1 PASS CGG . . 17874506 COMP . GRCh38 chr19 18785780 18785780 + Missense_Mutation SNP G G T novel 7316-3023 BS_YKD3WYFB G G c.1561C>A p.Pro521Thr p.P521T ENST00000222271 14/19 79 58 21 42 42 0 COMP,missense_variant,p.Pro488Thr,ENST00000542601,;COMP,missense_variant,p.Pro521Thr,ENST00000222271,NM_000095.2;COMP,missense_variant,p.Pro468Thr,ENST00000425807,;CRTC1,downstream_gene_variant,,ENST00000338797,NM_001098482.1;COMP,downstream_gene_variant,,ENST00000612179,;,regulatory_region_variant,,ENSR00000108146,; T ENSG00000105664 ENST00000222271 Transcript missense_variant 1606/2461 1561/2274 521/757 P/T Ccg/Acg 1 -1 COMP HGNC HGNC:2227 protein_coding YES CCDS12385.1 ENSP00000222271 P49747 UPI000013C7F6 NM_000095.2 deleterious(0) probably_damaging(1) 14/19 Gene3D:4.10.1080.10,Pfam_domain:PF02412,PROSITE_profiles:PS51234,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF88,Superfamily_domains:SSF103647 MODERATE 1 SNV 1 1 PASS GGA . . 18785780 RASGRP4 . GRCh38 chr19 38412773 38412773 + Missense_Mutation SNP G G A rs375300341 7316-3023 BS_YKD3WYFB G G c.1579C>T p.Arg527Trp p.R527W ENST00000615439 13/17 79 71 8 33 33 0 RASGRP4,missense_variant,p.Arg527Trp,ENST00000618320,;RASGRP4,missense_variant,p.Arg527Trp,ENST00000615439,NM_170604.2;RASGRP4,missense_variant,p.Arg493Trp,ENST00000454404,NM_001146205.1;RASGRP4,missense_variant,p.Arg513Trp,ENST00000586305,NM_001146202.1;RASGRP4,missense_variant,p.Arg458Trp,ENST00000587753,NM_001146204.1;RASGRP4,missense_variant,p.Arg435Trp,ENST00000614135,;RASGRP4,missense_variant,p.Arg435Trp,ENST00000433821,NM_001146203.1;RASGRP4,missense_variant,p.Arg430Trp,ENST00000617966,;RASGRP4,missense_variant,p.Arg430Trp,ENST00000293062,NM_001146207.1;RASGRP4,missense_variant,p.Arg338Trp,ENST00000622174,;RASGRP4,missense_variant,p.Arg338Trp,ENST00000426920,NM_001146206.1;RASGRP4,missense_variant,p.Arg527Trp,ENST00000587738,;FAM98C,downstream_gene_variant,,ENST00000252530,NM_174905.3;FAM98C,downstream_gene_variant,,ENST00000343358,NM_001351675.1;FAM98C,downstream_gene_variant,,ENST00000588262,;RASGRP4,missense_variant,p.Arg527Trp,ENST00000589358,;RASGRP4,missense_variant,p.Arg513Trp,ENST00000589474,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000615340,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588708,;FAM98C,downstream_gene_variant,,ENST00000586372,;RASGRP4,upstream_gene_variant,,ENST00000587287,;FAM98C,downstream_gene_variant,,ENST00000588348,;FAM98C,downstream_gene_variant,,ENST00000589027,; A ENSG00000171777 ENST00000615439 Transcript missense_variant 1793/3217 1579/2022 527/673 R/W Cgg/Tgg rs375300341 1 -1 RASGRP4 HGNC HGNC:18958 protein_coding YES CCDS46068.1 ENSP00000479844 Q8TDF6 UPI0000050F40 NM_170604.2 deleterious(0) possibly_damaging(0.72) 13/17 Gene3D:1.10.238.10,Superfamily_domains:SSF57889,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF157 0.0006 0.0015 0.001 0.0002421 MODERATE 1 SNV 1 PASS CGG . . 9.495e-05 0.0004981 9.508e-05 0.000432 3.844e-05 3.381e-05 38412773 PSG9 . GRCh38 chr19 43261863 43261863 + Missense_Mutation SNP G G A rs1266526283 7316-3023 BS_YKD3WYFB G G c.706C>T p.Leu236Phe p.L236F ENST00000270077 3/6 76 60 15 36 36 0 PSG9,missense_variant,p.Leu236Phe,ENST00000244293,;PSG9,missense_variant,p.Leu236Phe,ENST00000621109,;PSG9,missense_variant,p.Leu236Phe,ENST00000270077,NM_002784.4;PSG9,missense_variant,p.Leu236Phe,ENST00000593948,NM_001301708.1;PSG9,intron_variant,,ENST00000291752,NM_001301709.1;PSG9,intron_variant,,ENST00000418820,;PSG9,intron_variant,,ENST00000443718,NM_001301707.1;PSG9,intron_variant,,ENST00000596730,;PSG9,upstream_gene_variant,,ENST00000595404,; A ENSG00000183668 ENST00000270077 Transcript missense_variant 803/1705 706/1281 236/426 L/F Ctc/Ttc rs1266526283 1 -1 PSG9 HGNC HGNC:9526 protein_coding YES CCDS12618.1 ENSP00000270077 Q00887 UPI00001327A5 NM_002784.4 deleterious(0) possibly_damaging(0.656) 3/6 hmmpanther:PTHR45244:SF2,hmmpanther:PTHR45244,Gene3D:2.60.40.10,SMART_domains:SM00409 MODERATE 1 SNV 1 PASS AGG . . 4.066e-06 8.963e-06 43261863 JAG1 . GRCh38 chr20 10642549 10642549 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.2511T>G p.Asp837Glu p.D837E ENST00000254958 21/26 71 62 9 46 44 0 JAG1,missense_variant,p.Asp837Glu,ENST00000254958,NM_000214.2;JAG1,downstream_gene_variant,,ENST00000613518,;JAG1,non_coding_transcript_exon_variant,,ENST00000423891,;JAG1,non_coding_transcript_exon_variant,,ENST00000617965,;JAG1,downstream_gene_variant,,ENST00000488480,;JAG1,downstream_gene_variant,,ENST00000612857,;JAG1,upstream_gene_variant,,ENST00000617357,;JAG1,downstream_gene_variant,,ENST00000622545,; C ENSG00000101384 ENST00000254958 Transcript missense_variant 2980/5940 2511/3657 837/1218 D/E gaT/gaG 1 -1 JAG1 HGNC HGNC:6188 protein_coding YES CCDS13112.1 ENSP00000254958 P78504 UPI00000498B5 NM_000214.2 deleterious(0.01) probably_damaging(0.994) 21/26 cd00054,Pfam_domain:PF12661,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,PROSITE_profiles:PS50026,hmmpanther:PTHR44097,hmmpanther:PTHR44097:SF3,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187 MODERATE 1 SNV 1 1 PASS CAT . . 10642549 CST5 . GRCh38 chr20 23879488 23879488 + Missense_Mutation SNP C C A novel 7316-3023 BS_YKD3WYFB C C c.189G>T p.Glu63Asp p.E63D ENST00000304710 1/3 104 97 6 40 39 0 CST5,missense_variant,p.Glu63Asp,ENST00000304710,NM_001900.4; A ENSG00000170367 ENST00000304710 Transcript missense_variant 263/756 189/429 63/142 E/D gaG/gaT 1 -1 CST5 HGNC HGNC:2477 protein_coding YES CCDS13162.1 ENSP00000307132 P28325 UPI0000128D6F NM_001900.4 tolerated(0.59) benign(0.006) 1/3 PDB-ENSP_mappings:1rn7.A,PDB-ENSP_mappings:1roa.A,cd00042,hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF98,Pfam_domain:PF00031,Gene3D:3.10.450.10,SMART_domains:SM00043,Superfamily_domains:SSF54403 MODERATE 1 SNV 1 PASS ACT . . 23879488 TM9SF4 . GRCh38 chr20 32150828 32150828 + Missense_Mutation SNP C C G novel 7316-3023 BS_YKD3WYFB C C c.1198C>G p.Leu400Val p.L400V ENST00000398022 12/18 81 76 5 36 35 0 TM9SF4,missense_variant,p.Leu383Val,ENST00000217315,;TM9SF4,missense_variant,p.Leu400Val,ENST00000398022,NM_014742.3; G ENSG00000101337 ENST00000398022 Transcript missense_variant 1433/3978 1198/1929 400/642 L/V Ctg/Gtg 1 1 TM9SF4 HGNC HGNC:30797 protein_coding YES CCDS13196.2 ENSP00000381104 Q92544 A0A024QYR3 UPI0000206163 NM_014742.3 tolerated(0.08) possibly_damaging(0.903) 12/18 Pfam_domain:PF02990,hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF55,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS TCT . . 32150828 DLGAP4 . GRCh38 chr20 36442768 36442768 + Missense_Mutation SNP T T G novel 7316-3023 BS_YKD3WYFB T T c.1398T>G p.His466Gln p.H466Q ENST00000373913 6/13 88 44 41 38 37 1 DLGAP4,missense_variant,p.His466Gln,ENST00000373913,NM_014902.5;DLGAP4,missense_variant,p.His466Gln,ENST00000339266,;DLGAP4,missense_variant,p.His466Gln,ENST00000401952,;DLGAP4,missense_variant,p.His466Gln,ENST00000373907,; G ENSG00000080845 ENST00000373913 Transcript missense_variant 1878/5056 1398/2970 466/989 H/Q caT/caG 1 1 DLGAP4 HGNC HGNC:24476 protein_coding YES CCDS13274.1 ENSP00000363023 Q9Y2H0 UPI000013D34B NM_014902.5 tolerated(0.19) benign(0.003) 6/13 hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF19 MODERATE 1 SNV 1 PASS ATG . . 36442768 COL9A3 . GRCh38 chr20 62827244 62827244 + Missense_Mutation SNP G G A novel 7316-3023 BS_YKD3WYFB G G c.796G>A p.Asp266Asn p.D266N ENST00000343916 16/32 77 42 33 27 27 0 COL9A3,missense_variant,p.Asp266Asn,ENST00000343916,NM_001853.3;COL9A3,downstream_gene_variant,,ENST00000452372,;COL9A3,non_coding_transcript_exon_variant,,ENST00000463487,;COL9A3,downstream_gene_variant,,ENST00000477612,;COL9A3,downstream_gene_variant,,ENST00000489045,;COL9A3,upstream_gene_variant,,ENST00000466192,;COL9A3,upstream_gene_variant,,ENST00000469852,;COL9A3,upstream_gene_variant,,ENST00000481800,;COL9A3,upstream_gene_variant,,ENST00000490398,; A ENSG00000092758 ENST00000343916 Transcript missense_variant 799/2485 796/2055 266/684 D/N Gac/Aac 1 1 COL9A3 HGNC HGNC:2219 protein_coding YES CCDS13505.1 ENSP00000341640 Q14050 UPI0000126D51 NM_001853.3 deleterious(0) possibly_damaging(0.879) 16/32 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44865,Gene3D:2.160.20.50 MODERATE 1 SNV 1 1 PASS TGA . . 62827244 RUNX1 . GRCh38 chr21 34792313 34792313 + Missense_Mutation SNP T T G novel 7316-3023 BS_YKD3WYFB T T c.1265A>C p.Glu422Ala p.E422A ENST00000300305 8/8 93 62 14 24 24 0 RUNX1,missense_variant,p.Glu395Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Glu422Ala,ENST00000300305,;RUNX1,missense_variant,p.Glu422Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Glu331Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; G ENSG00000159216 ENST00000300305 Transcript missense_variant 1710/6222 1265/1443 422/480 E/A gAg/gCg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) benign(0.079) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS CTC . . 34792313 AC004997.1 . GRCh38 chr22 30286829 30286829 + Missense_Mutation SNP G G A novel 7316-3023 BS_YKD3WYFB G G c.1192C>T p.His398Tyr p.H398Y ENST00000434291 10/13 79 71 8 32 32 0 AC004997.1,missense_variant,p.His398Tyr,ENST00000434291,;CASTOR1,missense_variant,p.His209Tyr,ENST00000407689,NM_001037666.2;CASTOR1,missense_variant,p.His209Tyr,ENST00000404953,;CASTOR1,intron_variant,,ENST00000459785,;CASTOR1,downstream_gene_variant,,ENST00000464854,;CASTOR1,downstream_gene_variant,,ENST00000498572,;AC004997.1,3_prime_UTR_variant,,ENST00000330168,;AC004997.1,3_prime_UTR_variant,,ENST00000447976,;AC004997.1,3_prime_UTR_variant,,ENST00000434987,;AC004997.1,3_prime_UTR_variant,,ENST00000418047,;CASTOR1,3_prime_UTR_variant,,ENST00000421236,;CASTOR1,3_prime_UTR_variant,,ENST00000425691,;CASTOR1,3_prime_UTR_variant,,ENST00000415484,;CASTOR1,non_coding_transcript_exon_variant,,ENST00000497605,;CASTOR1,non_coding_transcript_exon_variant,,ENST00000471480,;CASTOR1,non_coding_transcript_exon_variant,,ENST00000463795,;CASTOR1,intron_variant,,ENST00000440839,;CASTOR1,downstream_gene_variant,,ENST00000440704,;CASTOR1,downstream_gene_variant,,ENST00000492159,;,regulatory_region_variant,,ENSR00000145201,;,regulatory_region_variant,,ENSR00000301594,; A ENSG00000248751 ENST00000434291 Transcript missense_variant 1192/1818 1192/1443 398/480 H/Y Cac/Tac 1 -1 AC004997.1 Clone_based_ensembl_gene protein_coding YES ENSP00000401535 H7C1Q1 UPI0001610F54 deleterious_low_confidence(0.03) unknown(0) 10/13 Gene3D:3.30.2130.10 MODERATE SNV 2 PASS TGC . . 30286829 DEPDC5 . GRCh38 chr22 31766620 31766620 + Missense_Mutation SNP G G C novel 7316-3023 BS_YKD3WYFB G G c.315G>C p.Lys105Asn p.K105N ENST00000400246 6/43 69 61 7 48 46 0 DEPDC5,missense_variant,p.Lys105Asn,ENST00000642696,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000645711,NM_001136029.2;DEPDC5,missense_variant,p.Lys105Asn,ENST00000400246,NM_001242896.1;DEPDC5,missense_variant,p.Lys105Asn,ENST00000382112,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000644331,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000400249,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000400248,NM_014662.4;DEPDC5,missense_variant,p.Lys105Asn,ENST00000646969,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000646465,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000382111,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000645560,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000535622,NM_001242897.1;DEPDC5,missense_variant,p.Lys105Asn,ENST00000645407,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000642974,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000645564,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000400242,NM_001007188.2;DEPDC5,missense_variant,p.Lys105Asn,ENST00000645693,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000646755,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000437411,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000645015,;DEPDC5,5_prime_UTR_variant,,ENST00000456178,;DEPDC5,intron_variant,,ENST00000433147,;DEPDC5,intron_variant,,ENST00000458532,;Z82190.2,intron_variant,,ENST00000646701,;DEPDC5,intron_variant,,ENST00000647343,;DEPDC5,intron_variant,,ENST00000647438,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000646515,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000645494,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000646998,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000642771,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000645755,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000643395,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000643751,;DEPDC5,missense_variant,p.Lys105Asn,ENST00000645967,;DEPDC5,3_prime_UTR_variant,,ENST00000642684,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000642551,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000643948,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000645785,;DEPDC5,intron_variant,,ENST00000643166,;DEPDC5,intron_variant,,ENST00000644162,;DEPDC5,upstream_gene_variant,,ENST00000469974,; C ENSG00000100150 ENST00000400246 Transcript missense_variant 481/5424 315/4812 105/1603 K/N aaG/aaC 1 1 DEPDC5 HGNC HGNC:18423 protein_coding YES CCDS74849.1 ENSP00000383105 O75140 UPI000192C426 NM_001242896.1 deleterious(0) probably_damaging(0.999) 6/43 Pfam_domain:PF12257,hmmpanther:PTHR13179 MODERATE 1 SNV 1 1 PASS AGG . . 31766620 CHM . GRCh38 chrX 86027553 86027553 + Missense_Mutation SNP C G G novel 7316-3023 BS_YKD3WYFB C C c.54G>C p.Leu18Phe p.L18F ENST00000357749 2/15 38 9 28 26 26 0 CHM,missense_variant,p.Leu18Phe,ENST00000357749,NM_000390.3,NM_001320959.1;CHM,missense_variant,p.Leu18Phe,ENST00000615443,NM_001145414.3;CHM,non_coding_transcript_exon_variant,,ENST00000467744,;CHM,non_coding_transcript_exon_variant,,ENST00000483950,; G ENSG00000188419 ENST00000357749 Transcript missense_variant 84/5442 54/1962 18/653 L/F ttG/ttC 1 -1 CHM HGNC HGNC:1940 protein_coding YES CCDS14454.1 ENSP00000350386 P24386 UPI0000049C8C NM_000390.3,NM_001320959.1 deleterious(0) possibly_damaging(0.853) 2/15 Gene3D:3.50.50.60,Pfam_domain:PF00996,PIRSF_domain:PIRSF016550,Prints_domain:PR00891,hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF12,Superfamily_domains:SSF51905 MODERATE 1 SNV 1 1 PASS GCA . . 86027553 SLC25A5 . GRCh38 chrX 119470922 119470922 + Missense_Mutation SNP C C T rs796575701 7316-3023 BS_YKD3WYFB C C c.761C>T p.Thr254Met p.T254M ENST00000317881 4/4 42 37 5 27 27 0 SLC25A5,missense_variant,p.Thr254Met,ENST00000317881,NM_001152.4;SLC25A5-AS1,upstream_gene_variant,,ENST00000445759,;SLC25A5-AS1,upstream_gene_variant,,ENST00000446986,;SLC25A5-AS1,upstream_gene_variant,,ENST00000609227,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000460013,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000463551,;SLC25A5,downstream_gene_variant,,ENST00000475354,;SLC25A5-AS1,upstream_gene_variant,,ENST00000395539,; T ENSG00000005022 ENST00000317881 Transcript missense_variant 877/1274 761/897 254/298 T/M aCg/aTg rs796575701,COSM202223 1 1 SLC25A5 HGNC HGNC:10991 protein_coding YES CCDS14578.1 ENSP00000360671 P05141 UPI000013C4ED NM_001152.4 tolerated(0.05) possibly_damaging(0.669) 4/4 PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF612,Pfam_domain:PF00153,Gene3D:1.50.40.10,Superfamily_domains:SSF103506 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 119470922 SPANXD . GRCh38 chrX 141697538 141697538 + Missense_Mutation SNP T T A novel 7316-3023 BS_YKD3WYFB T T c.221A>T p.Lys74Met p.K74M ENST00000370515 2/2 44 31 12 20 20 0 SPANXD,missense_variant,p.Lys74Met,ENST00000370515,NM_032417.3; A ENSG00000196406 ENST00000370515 Transcript missense_variant 555/682 221/294 74/97 K/M aAg/aTg 1 -1 SPANXD HGNC HGNC:14332 protein_coding YES CCDS14675.1 ENSP00000359546 Q9BXN6 UPI0000070F37 NM_032417.3 deleterious(0) benign(0.015) 2/2 Pfam_domain:PF07458,hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF16 MODERATE 1 SNV 1 PASS CTT . . 141697538 DUSP9 . GRCh38 chrX 153648201 153648201 + Missense_Mutation SNP A A C novel 7316-3023 BS_YKD3WYFB A A c.248A>C p.Gln83Pro p.Q83P ENST00000342782 2/4 72 47 18 34 33 0 DUSP9,missense_variant,p.Gln83Pro,ENST00000342782,NM_001318503.1;DUSP9,missense_variant,p.Gln83Pro,ENST00000370167,NM_001395.3;DUSP9,downstream_gene_variant,,ENST00000477033,;,regulatory_region_variant,,ENSR00000249577,; C ENSG00000130829 ENST00000342782 Transcript missense_variant 513/2433 248/1155 83/384 Q/P cAg/cCg 1 1 DUSP9 HGNC HGNC:3076 protein_coding YES CCDS14724.1 ENSP00000345853 Q99956 UPI0000049C1B NM_001318503.1 tolerated(0.06) benign(0.302) 2/4 Gene3D:3.40.250.10,Pfam_domain:PF00581,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50206,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF388,SMART_domains:SM00450,Superfamily_domains:SSF52821,cd01446 MODERATE 1 SNV 1 PASS CAG . . 153648201 AGRN . GRCh38 chr1 1041511 1041511 + Missense_Mutation SNP G G A novel 7316-407 BS_DKKJWR3M G G c.986G>A p.Arg329His p.R329H ENST00000379370 6/36 74 39 32 44 44 0 AGRN,missense_variant,p.Arg191His,ENST00000620552,NM_001305275.1;AGRN,missense_variant,p.Arg329His,ENST00000379370,NM_198576.3;AGRN,downstream_gene_variant,,ENST00000477585,;AGRN,downstream_gene_variant,,ENST00000469403,;AGRN,upstream_gene_variant,,ENST00000479707,;,regulatory_region_variant,,ENSR00000000127,; A ENSG00000188157 ENST00000379370 Transcript missense_variant 1036/7323 986/6138 329/2045 R/H cGc/cAc 1 1 AGRN HGNC HGNC:329 protein_coding YES CCDS30551.1 ENSP00000368678 O00468 UPI00001D7C8B NM_198576.3 tolerated(0.15) benign(0.026) 6/36 Gene3D:3.30.60.30,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF288 MODERATE 1 SNV 1 1 PASS CGC . . 1041511 PIK3CD . GRCh38 chr1 9724279 9724279 + Missense_Mutation SNP T T G novel 7316-407 BS_DKKJWR3M T T c.2722T>G p.Phe908Val p.F908V ENST00000377346 22/24 84 64 20 45 45 0 PIK3CD,missense_variant,p.Phe932Val,ENST00000536656,;PIK3CD,missense_variant,p.Phe932Val,ENST00000628140,;PIK3CD,missense_variant,p.Phe908Val,ENST00000377346,NM_005026.3,NM_001350234.1;PIK3CD,missense_variant,p.Phe932Val,ENST00000361110,;PIK3CD,missense_variant,p.Phe932Val,ENST00000543390,;CLSTN1,downstream_gene_variant,,ENST00000361311,NM_014944.4;CLSTN1,downstream_gene_variant,,ENST00000377298,NM_001009566.2,NM_001302883.1;CLSTN1,downstream_gene_variant,,ENST00000435891,;CLSTN1,downstream_gene_variant,,ENST00000477264,; G ENSG00000171608 ENST00000377346 Transcript missense_variant 2917/5203 2722/3135 908/1044 F/V Ttc/Gtc 1 1 PIK3CD HGNC HGNC:8977 protein_coding YES CCDS104.1 ENSP00000366563 O00329 A0A2K8FKV1 UPI000013E807 NM_005026.3,NM_001350234.1 deleterious(0) probably_damaging(0.995) 22/24 PROSITE_profiles:PS50290,cd05174,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,Pfam_domain:PF00454,PIRSF_domain:PIRSF000587,SMART_domains:SM00146,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 1 PASS GTT . . 9724279 PRAMEF1 . GRCh38 chr1 12795449 12795449 + Missense_Mutation SNP A A T rs200964387 7316-407 BS_DKKJWR3M A A c.878A>T p.Asn293Ile p.N293I ENST00000332296 4/4 44 37 7 34 33 0 PRAMEF1,missense_variant,p.Asn293Ile,ENST00000332296,NM_023013.4;PRAMEF1,non_coding_transcript_exon_variant,,ENST00000400814,NM_001294139.1; T ENSG00000116721 ENST00000332296 Transcript missense_variant 981/2160 878/1425 293/474 N/I aAc/aTc rs200964387 1 1 PRAMEF1 HGNC HGNC:28840 protein_coding YES CCDS148.1 ENSP00000332134 O95521 UPI0004620BB8 NM_023013.4 tolerated(0.07) possibly_damaging(0.474) 4/4 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2,Superfamily_domains:SSF52047 0.0042 0.0099 0.002 0.0092 MODERATE 1 SNV 1 PASS AAC . . 8.7e-05 2.999e-05 0.0002926 9.039e-05 8.26e-05 0.0001851 9.947e-05 12795449 PRAMEF1 . GRCh38 chr1 12795450 12795450 + Missense_Mutation SNP C C G rs201576054 7316-407 BS_DKKJWR3M C C c.879C>G p.Asn293Lys p.N293K ENST00000332296 4/4 46 38 8 34 33 0 PRAMEF1,missense_variant,p.Asn293Lys,ENST00000332296,NM_023013.4;PRAMEF1,non_coding_transcript_exon_variant,,ENST00000400814,NM_001294139.1; G ENSG00000116721 ENST00000332296 Transcript missense_variant 982/2160 879/1425 293/474 N/K aaC/aaG rs201576054 1 1 PRAMEF1 HGNC HGNC:28840 protein_coding YES CCDS148.1 ENSP00000332134 O95521 UPI0004620BB8 NM_023013.4 deleterious(0.04) benign(0.357) 4/4 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2,Superfamily_domains:SSF52047 0.0042 0.0099 0.002 0.0092 MODERATE 1 SNV 1 PASS ACC . . 9.128e-05 3e-05 0.000293 9.054e-05 9.193e-05 0.0001852 9.969e-05 12795450 RUNX3 . GRCh38 chr1 24902253 24902253 + Missense_Mutation SNP C C T rs771171662 7316-407 BS_DKKJWR3M C C c.1159G>A p.Ala387Thr p.A387T ENST00000399916 6/6 75 44 31 42 42 0 RUNX3,missense_variant,p.Ala387Thr,ENST00000399916,NM_001320672.1,NM_001031680.2;RUNX3,missense_variant,p.Ala373Thr,ENST00000308873,NM_004350.2;RUNX3,missense_variant,p.Ala387Thr,ENST00000338888,;RUNX3,downstream_gene_variant,,ENST00000496967,; T ENSG00000020633 ENST00000399916 Transcript missense_variant 1598/4340 1159/1290 387/429 A/T Gcc/Acc rs771171662 1 -1 RUNX3 HGNC HGNC:10473 protein_coding YES CCDS30633.1 ENSP00000382800 Q13761 A0A024RAH4 UPI000002B2FF NM_001320672.1,NM_001031680.2 tolerated(0.14) benign(0.003) 6/6 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF26,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GCG . . 5.185e-06 3.774e-05 24902253 KLF18 . GRCh38 chr1 44140247 44140247 + Missense_Mutation SNP G G T novel 7316-407 BS_DKKJWR3M G G c.1385C>A p.Thr462Lys p.T462K ENST00000634670 1/2 53 35 6 26 26 0 KLF18,missense_variant,p.Thr462Lys,ENST00000634670,NM_001358438.1; T ENSG00000283039 ENST00000634670 Transcript missense_variant 1385/3159 1385/3159 462/1052 T/K aCg/aAg 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated_low_confidence(0.13) unknown(0) 1/2 hmmpanther:PTHR21533,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21,hmmpanther:PTHR21533:SF21 MODERATE 1 SNV 5 PASS CGT . . 44140247 ARHGAP29 . GRCh38 chr1 94202633 94202633 + Nonsense_Mutation SNP C C A novel 7316-407 BS_DKKJWR3M C C c.1054G>T p.Glu352Ter p.E352* ENST00000260526 11/23 89 78 9 48 48 0 ARHGAP29,stop_gained,p.Glu352Ter,ENST00000260526,NM_004815.3;ARHGAP29,stop_gained,p.Glu352Ter,ENST00000370217,;ARHGAP29,stop_gained,p.Glu352Ter,ENST00000552844,; A ENSG00000137962 ENST00000260526 Transcript stop_gained 1237/6087 1054/3786 352/1261 E/* Gag/Tag 1 -1 ARHGAP29 HGNC HGNC:30207 protein_coding YES CCDS748.1 ENSP00000260526 Q52LW3 UPI000013D0E4 NM_004815.3 11/23 PROSITE_profiles:PS51741,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF7,Superfamily_domains:SSF103657 HIGH 1 SNV 1 1 PASS TCC . . 94202633 KCNC4 . GRCh38 chr1 110226086 110226086 + Missense_Mutation SNP G G A rs150481020 7316-407 BS_DKKJWR3M G G c.1727G>A p.Arg576His p.R576H ENST00000369787 3/4 67 37 28 57 55 0 KCNC4,missense_variant,p.Arg576His,ENST00000369787,NM_004978.4;KCNC4,missense_variant,p.Arg576His,ENST00000413138,;KCNC4,missense_variant,p.Arg576His,ENST00000438661,NM_001039574.2;KCNC4,missense_variant,p.Arg62His,ENST00000636402,;KCNC4,intron_variant,,ENST00000412512,;KCNC4,missense_variant,p.Arg576His,ENST00000469655,;KCNC4,non_coding_transcript_exon_variant,,ENST00000459877,;KCNC4,downstream_gene_variant,,ENST00000489935,; A ENSG00000116396 ENST00000369787 Transcript missense_variant 1754/18750 1727/1908 576/635 R/H cGc/cAc rs150481020,COSM893648,COSM1583246 1 1 KCNC4 HGNC HGNC:6236 protein_coding YES CCDS821.1 ENSP00000358802 Q03721 UPI000013CAC8 NM_004978.4 deleterious_low_confidence(0.05) possibly_damaging(0.649) 3/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF126 0.000227 0.0002326 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGC . . 8.138e-05 6.539e-05 0.0001348 0.0001299 110226086 OVGP1 . GRCh38 chr1 111421406 111421406 + Missense_Mutation SNP A A G novel 7316-407 BS_DKKJWR3M A A c.773T>C p.Met258Thr p.M258T ENST00000369732 8/11 95 47 47 40 40 0 OVGP1,missense_variant,p.Met258Thr,ENST00000369732,NM_002557.3;OVGP1,non_coding_transcript_exon_variant,,ENST00000481495,;OVGP1,upstream_gene_variant,,ENST00000494622,; G ENSG00000085465 ENST00000369732 Transcript missense_variant 829/2243 773/2037 258/678 M/T aTg/aCg 1 -1 OVGP1 HGNC HGNC:8524 protein_coding YES CCDS834.1 ENSP00000358747 Q12889 UPI0000130C53 NM_002557.3 deleterious(0.02) possibly_damaging(0.867) 8/11 cd02872,hmmpanther:PTHR11177:SF217,hmmpanther:PTHR11177,Pfam_domain:PF00704,Gene3D:3.20.20.80,SMART_domains:SM00636,Superfamily_domains:SSF51445 MODERATE 1 SNV 1 PASS CAT . . 111421406 IVL . GRCh38 chr1 152911121 152911121 + Missense_Mutation SNP C C A novel 7316-407 BS_DKKJWR3M C C c.1324C>A p.His442Asn p.H442N ENST00000368764 2/2 73 39 32 38 37 0 IVL,missense_variant,p.His442Asn,ENST00000368764,NM_005547.2; A ENSG00000163207 ENST00000368764 Transcript missense_variant 1388/2153 1324/1758 442/585 H/N Cat/Aat 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated(0.32) benign(0.001) 2/2 Pfam_domain:PF00904,mobidb-lite MODERATE 1 SNV 2 PASS GCA . . 152911121 IFI16 . GRCh38 chr1 159018412 159018412 + Missense_Mutation SNP T T G novel 7316-407 BS_DKKJWR3M T T c.733T>G p.Leu245Val p.L245V ENST00000368131 5/11 79 37 42 47 47 0 IFI16,missense_variant,p.Leu245Val,ENST00000295809,;IFI16,missense_variant,p.Leu245Val,ENST00000368131,NM_005531.2;IFI16,missense_variant,p.Leu245Val,ENST00000368132,;IFI16,missense_variant,p.Leu189Val,ENST00000359709,NM_001206567.1;IFI16,missense_variant,p.Leu245Val,ENST00000448393,;IFI16,missense_variant,p.Leu87Val,ENST00000474473,;IFI16,5_prime_UTR_variant,,ENST00000340979,;IFI16,downstream_gene_variant,,ENST00000426592,;IFI16,downstream_gene_variant,,ENST00000447473,;IFI16,downstream_gene_variant,,ENST00000566111,;IFI16,downstream_gene_variant,,ENST00000567661,;IFI16,non_coding_transcript_exon_variant,,ENST00000483916,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,; G ENSG00000163565 ENST00000368131 Transcript missense_variant 1023/2734 733/2190 245/729 L/V Tta/Gta 1 1 IFI16 HGNC HGNC:5395 protein_coding YES CCDS1180.3 ENSP00000357113 Q16666 UPI00001412C9 NM_005531.2 deleterious(0.01) benign(0.289) 5/11 PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF5,Gene3D:2.40.50.140,Pfam_domain:PF02760,Superfamily_domains:SSF159141 MODERATE 1 SNV 1 PASS TTT . . 159018412 PIGM . GRCh38 chr1 160031169 160031169 + Missense_Mutation SNP T T C rs779747506 7316-407 BS_DKKJWR3M T T c.571A>G p.Thr191Ala p.T191A ENST00000368090 1/1 63 56 7 39 39 0 PIGM,missense_variant,p.Thr191Ala,ENST00000368090,NM_145167.2;KCNJ10,intron_variant,,ENST00000509700,;KCNJ10,intron_variant,,ENST00000637644,;KCNJ10,intron_variant,,ENST00000639408,;KCNJ10,intron_variant,,ENST00000640914,;,regulatory_region_variant,,ENSR00000014489,; C ENSG00000143315 ENST00000368090 Transcript missense_variant 823/7039 571/1272 191/423 T/A Acc/Gcc rs779747506 1 -1 PIGM HGNC HGNC:18858 protein_coding YES CCDS1192.1 ENSP00000357069 Q9H3S5 UPI000006D9D7 NM_145167.2 tolerated(0.75) benign(0) 1/1 Pfam_domain:PF05007,hmmpanther:PTHR12886 MODERATE 1 SNV 1 PASS GTT . . 2.437e-05 0.0001787 160031169 NR5A2 . GRCh38 chr1 200048167 200048167 + Splice_Region SNP A A C rs1489721916 7316-407 BS_DKKJWR3M A A c.464-5A>C ENST00000367362 64 48 12 35 34 0 NR5A2,splice_region_variant,,ENST00000236914,NM_003822.4;NR5A2,splice_region_variant,,ENST00000367357,;NR5A2,splice_region_variant,,ENST00000367362,NM_205860.2;NR5A2,splice_region_variant,,ENST00000544748,NM_001276464.1;NR5A2,downstream_gene_variant,,ENST00000474307,;,regulatory_region_variant,,ENSR00000017893,; C ENSG00000116833 ENST00000367362 Transcript splice_region_variant,intron_variant rs1489721916 1 1 NR5A2 HGNC HGNC:7984 protein_coding YES CCDS1401.1 ENSP00000356331 O00482 UPI0000130482 NM_205860.2 4/7 LOW 1 SNV 1 PASS CAA . . 4.294e-06 3.256e-05 200048167 CAD . GRCh38 chr2 27242897 27242897 + Missense_Mutation SNP C C T rs147932160 7316-407 BS_DKKJWR3M C C c.6404C>T p.Ala2135Val p.A2135V ENST00000264705 42/44 83 73 10 46 46 0 CAD,missense_variant,p.Ala2135Val,ENST00000264705,NM_004341.4;CAD,missense_variant,p.Ala2072Val,ENST00000403525,NM_001306079.1;CAD,missense_variant,p.Ala203Val,ENST00000428460,;CAD,downstream_gene_variant,,ENST00000456311,;CAD,downstream_gene_variant,,ENST00000458503,;CAD,downstream_gene_variant,,ENST00000491461,;CAD,downstream_gene_variant,,ENST00000487239,; T ENSG00000084774 ENST00000264705 Transcript missense_variant 6566/7265 6404/6678 2135/2225 A/V gCg/gTg rs147932160 1 1 CAD HGNC HGNC:1424 protein_coding YES CCDS1742.1 ENSP00000264705 P27708 UPI000013D558 NM_004341.4 tolerated(0.93) probably_damaging(0.995) 42/44 Gene3D:3.40.50.1370,PDB-ENSP_mappings:5g1n.A,PDB-ENSP_mappings:5g1n.B,PDB-ENSP_mappings:5g1n.C,PDB-ENSP_mappings:5g1n.D,PDB-ENSP_mappings:5g1n.E,PDB-ENSP_mappings:5g1n.F,PDB-ENSP_mappings:5g1o.A,PDB-ENSP_mappings:5g1o.B,PDB-ENSP_mappings:5g1o.C,PDB-ENSP_mappings:5g1o.D,PDB-ENSP_mappings:5g1o.E,PDB-ENSP_mappings:5g1o.F,PDB-ENSP_mappings:5g1p.A,PDB-ENSP_mappings:5g1p.B,PDB-ENSP_mappings:5g1p.C,PDB-ENSP_mappings:5g1p.D,PDB-ENSP_mappings:5g1p.E,PDB-ENSP_mappings:5g1p.F,HAMAP:MF_00001,Pfam_domain:PF00185,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00670 0.0002326 MODERATE 1 SNV 1 1 PASS GCG . . 8.124e-06 1.791e-05 27242897 HOXD9 . GRCh38 chr2 176122949 176122949 + Missense_Mutation SNP G G T novel 7316-407 BS_DKKJWR3M G G c.181G>T p.Ala61Ser p.A61S ENST00000249499 1/2 71 57 14 50 49 0 HOXD9,missense_variant,p.Ala61Ser,ENST00000249499,NM_014213.3;HOXD10,downstream_gene_variant,,ENST00000249501,NM_002148.3;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD10,downstream_gene_variant,,ENST00000490088,;HOXD10,downstream_gene_variant,,ENST00000549469,;,regulatory_region_variant,,ENSR00000126745,; T ENSG00000128709 ENST00000249499 Transcript missense_variant 230/1870 181/1059 61/352 A/S Gcc/Tcc 1 1 HOXD9 HGNC HGNC:5140 protein_coding YES CCDS2267.2 ENSP00000249499 P28356 UPI000004A10E NM_014213.3 tolerated(0.49) possibly_damaging(0.451) 1/2 Low_complexity_(Seg):seg,Pfam_domain:PF04617,hmmpanther:PTHR24326:SF113,hmmpanther:PTHR24326 MODERATE 1 SNV 1 PASS CGC . . 176122949 FSIP2 . GRCh38 chr2 185813866 185813866 + Frame_Shift_Del DEL A A - novel 7316-407 BS_DKKJWR3M A A c.20151del p.Lys6717AsnfsTer21 p.K6717Nfs*21 ENST00000424728 18/23 70 36 30 46 45 0 FSIP2,frameshift_variant,p.Lys6717AsnfsTer21,ENST00000424728,NM_173651.3;FSIP2,3_prime_UTR_variant,,ENST00000611759,;FSIP2,3_prime_UTR_variant,,ENST00000415915,; - ENSG00000188738 ENST00000424728 Transcript frameshift_variant 20149/20788 20149/20724 6717/6907 K/X Aaa/aa 1 1 FSIP2 HGNC HGNC:21675 protein_coding YES CCDS54426.2 ENSP00000401306 Q5CZC0 UPI000198D023 NM_173651.3 18/23 Pfam_domain:PF15783,hmmpanther:PTHR21856,Low_complexity_(Seg):seg HIGH 1 deletion 5 2 PASS GTAA . . 185813865 CLK1 . GRCh38 chr2 200853890 200853897 + Splice_Region DEL CTCAAAGG CTCAAAGG - novel 7316-407 BS_DKKJWR3M CTCAAAGG CTCAAAGG c.1437+6_1437+13del ENST00000434813 83 73 10 32 32 0 CLK1,splice_region_variant,,ENST00000321356,NM_004071.3;CLK1,splice_region_variant,,ENST00000409769,;CLK1,splice_region_variant,,ENST00000434813,NM_001162407.1;CLK1,splice_region_variant,,ENST00000621181,;RNA5SP115,upstream_gene_variant,,ENST00000411160,;CLK1,splice_region_variant,,ENST00000409403,;CLK1,splice_region_variant,,ENST00000432425,;CLK1,splice_region_variant,,ENST00000461326,;CLK1,splice_region_variant,,ENST00000461981,;CLK1,splice_region_variant,,ENST00000464454,;CLK1,splice_region_variant,,ENST00000472679,;CLK1,splice_region_variant,,ENST00000473565,;CLK1,splice_region_variant,,ENST00000496205,; - ENSG00000013441 ENST00000434813 Transcript splice_region_variant,intron_variant 1 -1 CLK1 HGNC HGNC:2068 protein_coding YES CCDS54427.1 ENSP00000394734 P49759 UPI00017A7024 NM_001162407.1 12/12 LOW 1 deletion 2 PASS GTCTCAAAGGC . . 200853889 ALPG . GRCh38 chr2 232408395 232408395 + Missense_Mutation SNP G G T novel 7316-407 BS_DKKJWR3M G G c.777G>T p.Lys259Asn p.K259N ENST00000295453 6/11 95 83 7 39 37 0 ALPG,missense_variant,p.Lys259Asn,ENST00000295453,NM_031313.2; T ENSG00000163286 ENST00000295453 Transcript missense_variant 829/2493 777/1599 259/532 K/N aaG/aaT 1 1 ALPG HGNC HGNC:441 protein_coding YES CCDS2491.1 ENSP00000295453 P10696 UPI000013E259 NM_031313.2 tolerated(0.21) benign(0.05) 6/11 Gene3D:3.40.720.10,Pfam_domain:PF00245,hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF69,SMART_domains:SM00098,Superfamily_domains:SSF53649,cd16012 MODERATE 1 SNV 1 PASS AGC . . 232408395 SETD2 . GRCh38 chr3 47121420 47121439 + Frame_Shift_Del DEL CACAACCACAACAGACTGGA CACAACCACAACAGACTGGA - novel 7316-407 BS_DKKJWR3M CACAACCACAACAGACTGGA CACAACCACAACAGACTGGA c.3197_3216del p.Leu1066ProfsTer23 p.L1066Pfs*23 ENST00000409792 3/21 94 89 5 44 44 0 SETD2,frameshift_variant,p.Leu1066ProfsTer23,ENST00000409792,NM_014159.6,NM_001349370.1;SETD2,frameshift_variant,p.Leu1022ProfsTer23,ENST00000412450,;SETD2,upstream_gene_variant,,ENST00000638947,;SETD2,frameshift_variant,p.Leu938ProfsTer23,ENST00000330022,;SETD2,frameshift_variant,p.Leu784ProfsTer23,ENST00000431180,;SETD2,frameshift_variant,p.Leu700ProfsTer23,ENST00000445387,; - ENSG00000181555 ENST00000409792 Transcript frameshift_variant 3240-3259/8142 3197-3216/7695 1066-1072/2564 LQSVVVV/X cTCCAGTCTGTTGTGGTTGTG/c 1 -1 SETD2 HGNC HGNC:18420 protein_coding YES CCDS2749.2 ENSP00000386759 Q9BYW2 UPI00017E10FB NM_014159.6,NM_001349370.1 3/21 mobidb-lite,hmmpanther:PTHR22884:SF468,hmmpanther:PTHR22884 HIGH 1 deletion 5 1 PASS GGCACAACCACAACAGACTGGAG . . 47121419 BOC . GRCh38 chr3 113278222 113278222 + Missense_Mutation SNP G G T novel 7316-407 BS_DKKJWR3M G G c.1670G>T p.Gly557Val p.G557V ENST00000273395 10/20 83 40 42 46 46 0 BOC,missense_variant,p.Gly556Val,ENST00000495514,NM_033254.3;BOC,missense_variant,p.Gly556Val,ENST00000355385,;BOC,missense_variant,p.Gly557Val,ENST00000273395,NM_001301861.1;BOC,non_coding_transcript_exon_variant,,ENST00000497495,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,upstream_gene_variant,,ENST00000463971,;,regulatory_region_variant,,ENSR00000305568,; T ENSG00000144857 ENST00000273395 Transcript missense_variant 2009/4276 1670/3348 557/1115 G/V gGa/gTa 1 1 BOC HGNC HGNC:17173 protein_coding YES CCDS77788.1 ENSP00000273395 Q9BWV1 UPI0000D61B53 NM_001301861.1 deleterious(0) probably_damaging(0.976) 10/20 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR44170,hmmpanther:PTHR44170:SF3,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 MODERATE 1 SNV 1 PASS GGA . . 113278222 RASSF6 . GRCh38 chr4 73611744 73611744 + Missense_Mutation SNP T T A novel 7316-407 BS_DKKJWR3M T T c.148A>T p.Thr50Ser p.T50S ENST00000342081 2/11 70 36 33 46 45 0 RASSF6,missense_variant,p.Thr18Ser,ENST00000307439,NM_177532.4;RASSF6,missense_variant,p.Thr50Ser,ENST00000342081,NM_201431.2;RASSF6,missense_variant,p.Thr18Ser,ENST00000395777,NM_001270391.1;RASSF6,intron_variant,,ENST00000335049,NM_001270392.1;RASSF6,non_coding_transcript_exon_variant,,ENST00000512591,; A ENSG00000169435 ENST00000342081 Transcript missense_variant 279/4331 148/1110 50/369 T/S Aca/Tca 1 -1 RASSF6 HGNC HGNC:20796 protein_coding YES CCDS3558.1 ENSP00000340578 Q6ZTQ3 UPI00001C0C6F NM_201431.2 tolerated(0.36) benign(0.026) 2/11 hmmpanther:PTHR22738:SF3,hmmpanther:PTHR22738 MODERATE 1 SNV 2 PASS GTC . . 73611744 KIAA1109 . GRCh38 chr4 122313663 122313663 + Missense_Mutation SNP A A G novel 7316-407 BS_DKKJWR3M A A c.10288A>G p.Arg3430Gly p.R3430G ENST00000264501 60/86 71 29 42 36 35 0 KIAA1109,missense_variant,p.Arg3430Gly,ENST00000264501,;KIAA1109,missense_variant,p.Arg3430Gly,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Arg46Gly,ENST00000438707,;KIAA1109,missense_variant,p.Arg1388Gly,ENST00000419325,;KIAA1109,missense_variant,p.Arg79Gly,ENST00000421930,; G ENSG00000138688 ENST00000264501 Transcript missense_variant 10661/15896 10288/15018 3430/5005 R/G Aga/Gga 1 1 KIAA1109 HGNC HGNC:26953 protein_coding YES CCDS43267.1 ENSP00000264501 Q2LD37 UPI0000DD87B4 deleterious(0) probably_damaging(0.966) 60/86 hmmpanther:PTHR31640 MODERATE 1 SNV 5 1 PASS AAG . . 122313663 IL2 . GRCh38 chr4 122451827 122451827 + Frame_Shift_Del DEL A A - novel 7316-407 BS_DKKJWR3M A A c.387del p.Asp129GlufsTer7 p.D129Efs*7 ENST00000226730 4/4 75 42 29 37 36 0 IL2,frameshift_variant,p.Asp129GlufsTer7,ENST00000226730,NM_000586.3;IL2,non_coding_transcript_exon_variant,,ENST00000477645,; - ENSG00000109471 ENST00000226730 Transcript frameshift_variant 672/1029 387/462 129/153 D/X gaT/ga 1 -1 IL2 HGNC HGNC:6001 protein_coding YES CCDS3726.1 ENSP00000226730 P60568 Q0GK43 UPI000002BE7B NM_000586.3 4/4 PDB-ENSP_mappings:1irl.A,PDB-ENSP_mappings:1m47.A,PDB-ENSP_mappings:1m48.A,PDB-ENSP_mappings:1m48.B,PDB-ENSP_mappings:1m49.A,PDB-ENSP_mappings:1m49.B,PDB-ENSP_mappings:1m4a.A,PDB-ENSP_mappings:1m4b.A,PDB-ENSP_mappings:1m4c.A,PDB-ENSP_mappings:1m4c.B,PDB-ENSP_mappings:1nbp.A,PDB-ENSP_mappings:1pw6.A,PDB-ENSP_mappings:1pw6.B,PDB-ENSP_mappings:1py2.A,PDB-ENSP_mappings:1py2.B,PDB-ENSP_mappings:1py2.C,PDB-ENSP_mappings:1py2.D,PDB-ENSP_mappings:1qvn.A,PDB-ENSP_mappings:1qvn.B,PDB-ENSP_mappings:1qvn.C,PDB-ENSP_mappings:1qvn.D,PDB-ENSP_mappings:1z92.A,PDB-ENSP_mappings:2b5i.A,PDB-ENSP_mappings:2erj.D,PDB-ENSP_mappings:2erj.H,PDB-ENSP_mappings:3ink.C,PDB-ENSP_mappings:3ink.D,PDB-ENSP_mappings:3qaz.A,PDB-ENSP_mappings:3qaz.D,PDB-ENSP_mappings:3qaz.G,PDB-ENSP_mappings:3qaz.J,PDB-ENSP_mappings:3qaz.M,PDB-ENSP_mappings:3qaz.P,PDB-ENSP_mappings:3qaz.S,PDB-ENSP_mappings:3qaz.V,PDB-ENSP_mappings:3qaz.Y,PDB-ENSP_mappings:3qaz.b,PDB-ENSP_mappings:3qaz.e,PDB-ENSP_mappings:3qaz.h,PDB-ENSP_mappings:3qb1.A,PDB-ENSP_mappings:3qb1.B,PDB-ENSP_mappings:3qb1.C,PDB-ENSP_mappings:3qb1.D,PDB-ENSP_mappings:3qb1.E,PDB-ENSP_mappings:3qb1.F,PDB-ENSP_mappings:3qb1.G,PDB-ENSP_mappings:3qb1.H,PDB-ENSP_mappings:4nej.A,PDB-ENSP_mappings:4nem.A,PDB-ENSP_mappings:5lqb.A,PDB-ENSP_mappings:5m5e.D,hmmpanther:PTHR45426,Pfam_domain:PF00715,Gene3D:1.20.1250.10,SMART_domains:SM00189,Superfamily_domains:SSF47266,Prints_domain:PR00265,blastprodom:PD003649 HIGH 1 deletion 1 1 PASS TCAT . . 122451826 PRDM9 . GRCh38 chr5 23527226 23527226 + Missense_Mutation SNP C C G rs201504954 7316-407 BS_DKKJWR3M C C c.2138C>G p.Thr713Arg p.T713R ENST00000296682 11/11 47 35 11 26 25 0 PRDM9,missense_variant,p.Thr713Arg,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,;,regulatory_region_variant,,ENSR00000314203,; G ENSG00000164256 ENST00000296682 Transcript missense_variant 2320/3691 2138/2685 713/894 T/R aCa/aGa rs201504954,COSM314410 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 deleterious(0) possibly_damaging(0.447) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ACA . . 0.000189 0.0001803 0.0002502 0.0005424 0.0001813 4.969e-05 0.0002138 0.0002714 4.338e-05 23527226 TMEM161B . GRCh38 chr5 88206504 88206504 + Splice_Region DEL G G - rs376052457 7316-407 BS_DKKJWR3M G G c.599-5del ENST00000514135 67 45 13 47 46 1 TMEM161B,splice_region_variant,,ENST00000296595,NM_153354.4;TMEM161B,splice_region_variant,,ENST00000506536,;TMEM161B,splice_region_variant,,ENST00000509387,;TMEM161B,splice_region_variant,,ENST00000511218,;TMEM161B,splice_region_variant,,ENST00000512429,NM_001289008.1;TMEM161B,splice_region_variant,,ENST00000514135,NM_001289007.1;TMEM161B,splice_region_variant,,ENST00000503755,;TMEM161B,downstream_gene_variant,,ENST00000513487,;TMEM161B,splice_region_variant,,ENST00000507872,;TMEM161B,splice_region_variant,,ENST00000510089,;TMEM161B,splice_region_variant,,ENST00000511087,; - ENSG00000164180 ENST00000514135 Transcript splice_region_variant,intron_variant rs376052457,COSM4771986 1 -1 TMEM161B HGNC HGNC:28483 protein_coding YES CCDS75270.1 ENSP00000426354 E9PCX5 UPI0001D3B4CF NM_001289007.1 6/12 0.0807 0.0711 0.0793 0.0784 0.0855 0.092 0,1 LOW 1 deletion 2 0,1 PASS GTGG . . 0.08595 0.07767 0.08152 0.07702 0.08661 0.05456 0.0984 0.09102 0.08242 88206503 GIN1 . GRCh38 chr5 103096698 103096698 + Missense_Mutation SNP C C G novel 7316-407 BS_DKKJWR3M C C c.1137G>C p.Lys379Asn p.K379N ENST00000399004 7/8 88 69 18 67 67 0 GIN1,missense_variant,p.Lys379Asn,ENST00000399004,NM_001317954.1,NM_017676.2;GIN1,intron_variant,,ENST00000508629,;GIN1,intron_variant,,ENST00000507478,;GIN1,3_prime_UTR_variant,,ENST00000512248,;GIN1,intron_variant,,ENST00000513747,; G ENSG00000145723 ENST00000399004 Transcript missense_variant 1232/3229 1137/1569 379/522 K/N aaG/aaC 1 -1 GIN1 HGNC HGNC:25959 protein_coding YES CCDS43349.1 ENSP00000381970 Q9NXP7 UPI000020C3A9 NM_001317954.1,NM_017676.2 deleterious(0) probably_damaging(0.997) 7/8 hmmpanther:PTHR44871 MODERATE 1 SNV 1 PASS CCT . . 103096698 SPOCK1 . GRCh38 chr5 136979455 136979455 + Missense_Mutation SNP G G A rs769897303 7316-407 BS_DKKJWR3M G G c.1006C>T p.Arg336Trp p.R336W ENST00000394945 10/11 87 56 28 45 45 0 SPOCK1,missense_variant,p.Arg336Trp,ENST00000394945,NM_004598.3;SPOCK1,missense_variant,p.Arg274Trp,ENST00000282223,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000509978,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000515091,; A ENSG00000152377 ENST00000394945 Transcript missense_variant 1176/4846 1006/1320 336/439 R/W Cgg/Tgg rs769897303 1 -1 SPOCK1 HGNC HGNC:11251 protein_coding YES CCDS4191.1 ENSP00000378401 Q08629 UPI0000136F50 NM_004598.3 tolerated(0.19) probably_damaging(0.999) 10/11 PROSITE_profiles:PS51162,cd00191,hmmpanther:PTHR44341:SF2,hmmpanther:PTHR44341,PROSITE_patterns:PS00484,Pfam_domain:PF00086,Gene3D:4.10.800.10,SMART_domains:SM00211,Superfamily_domains:SSF57610 MODERATE 1 SNV 1 PASS CGA . . 2.036e-05 8.996e-06 0.0001827 9.751e-05 136979455 EBF1 . GRCh38 chr5 158731150 158731150 + Missense_Mutation SNP G G C 7316-407 BS_DKKJWR3M G G c.1044C>G p.Asn348Lys p.N348K ENST00000313708 11/16 84 43 40 49 49 0 EBF1,missense_variant,p.Asn348Lys,ENST00000313708,NM_001324106.1,NM_024007.4,NM_001324108.1,NM_001324107.1,NM_001290360.2,NM_001324101.1,NM_001324111.1,NM_001324103.1;EBF1,missense_variant,p.Asn164Lys,ENST00000622875,;EBF1,missense_variant,p.Asn317Lys,ENST00000380654,NM_182708.2;EBF1,missense_variant,p.Asn340Lys,ENST00000517373,NM_001324109.1;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,non_coding_transcript_exon_variant,,ENST00000523464,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,; C ENSG00000164330 ENST00000313708 Transcript missense_variant 1327/5250 1044/1776 348/591 N/K aaC/aaG COSM3247065 1 -1 EBF1 HGNC HGNC:3126 protein_coding YES CCDS4343.1 ENSP00000322898 Q9UH73 UPI000000D95E NM_001324106.1,NM_024007.4,NM_001324108.1,NM_001324107.1,NM_001290360.2,NM_001324101.1,NM_001324111.1,NM_001324103.1 deleterious(0) possibly_damaging(0.782) 11/16 hmmpanther:PTHR10747:SF26,hmmpanther:PTHR10747,Pfam_domain:PF16423 1 MODERATE 1 SNV 1 1 1 PASS CGT . . 158731150 GABRA1 . GRCh38 chr5 161895737 161895737 + Missense_Mutation SNP G G A novel 7316-407 BS_DKKJWR3M G G c.928G>A p.Ala310Thr p.A310T ENST00000393943 9/10 63 51 10 46 43 0 GABRA1,missense_variant,p.Ala310Thr,ENST00000393943,NM_001127644.1;GABRA1,missense_variant,p.Ala310Thr,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Ala325Thr,ENST00000638159,;GABRA1,missense_variant,p.Ala310Thr,ENST00000437025,NM_001127648.1,NM_001127645.1;GABRA1,missense_variant,p.Ala310Thr,ENST00000638112,;GABRA1,missense_variant,p.Ala310Thr,ENST00000636573,;GABRA1,missense_variant,p.Ala310Thr,ENST00000023897,NM_000806.5;GABRA1,missense_variant,p.Ala310Thr,ENST00000637827,;GABRA1,missense_variant,p.Ala310Thr,ENST00000635880,;GABRA1,downstream_gene_variant,,ENST00000634335,;GABRA1,non_coding_transcript_exon_variant,,ENST00000636408,;GABRA1,3_prime_UTR_variant,,ENST00000637044,;GABRA1,3_prime_UTR_variant,,ENST00000636340,;GABRA1,downstream_gene_variant,,ENST00000519542,; A ENSG00000022355 ENST00000393943 Transcript missense_variant 1711/4686 928/1371 310/456 A/T Gca/Aca 1 1 GABRA1 HGNC HGNC:4075 protein_coding YES CCDS4357.1 ENSP00000377517 P14867 UPI000012AF95 NM_001127644.1 deleterious(0.01) probably_damaging(0.99) 9/10 Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860 MODERATE 1 SNV 1 1 PASS TGC . . 161895737 HIST1H1T . GRCh38 chr6 26107594 26107594 + Missense_Mutation SNP C C A rs1384996067 7316-407 BS_DKKJWR3M C C c.500G>T p.Gly167Val p.G167V ENST00000338379 1/1 57 30 27 54 53 0 HIST1H1T,missense_variant,p.Gly167Val,ENST00000338379,NM_005323.3;HIST1H4C,downstream_gene_variant,,ENST00000377803,NM_003542.3; A ENSG00000187475 ENST00000338379 Transcript missense_variant 543/718 500/624 167/207 G/V gGg/gTg rs1384996067,COSM3623457 1 -1 HIST1H1T HGNC HGNC:4720 protein_coding YES CCDS34349.1 ENSP00000341214 P22492 UPI000007478C NM_005323.3 tolerated(0.11) benign(0.012) 1/1 hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF18,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 0,1 PASS CCC . . 26107594 ZNF184 . GRCh38 chr6 27451844 27451844 + Missense_Mutation SNP G G T novel 7316-407 BS_DKKJWR3M G G c.1715C>A p.Ser572Tyr p.S572Y ENST00000211936 6/6 73 43 30 32 31 0 ZNF184,missense_variant,p.Ser572Tyr,ENST00000211936,NM_001318893.1,NM_007149.2,NM_001318891.1;ZNF184,missense_variant,p.Ser572Tyr,ENST00000377419,NM_001318892.1; T ENSG00000096654 ENST00000211936 Transcript missense_variant 2000/3101 1715/2256 572/751 S/Y tCc/tAc 1 -1 ZNF184 HGNC HGNC:12975 protein_coding YES CCDS4624.1 ENSP00000211936 Q99676 A0A024RCM2 UPI000013C311 NM_001318893.1,NM_007149.2,NM_001318891.1 tolerated(0.51) benign(0.028) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF656,hmmpanther:PTHR24377:SF656,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GGA . . 27451844 MDC1 . GRCh38 chr6 30704981 30704981 + Missense_Mutation SNP C C A rs748601560 7316-407 BS_DKKJWR3M C C c.4202G>T p.Gly1401Val p.G1401V ENST00000376406 10/15 60 43 11 32 31 0 MDC1,missense_variant,p.Gly1401Val,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4850/7576 4202/6270 1401/2089 G/V gGc/gTc rs748601560 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GCC . . 0.007351 0.01338 0.01103 0.003108 0.01969 0.0009711 0.005031 0.01102 0.009859 30704981 PHF3 . GRCh38 chr6 63711924 63711924 + Missense_Mutation SNP G G A novel 7316-407 BS_DKKJWR3M G G c.4336G>A p.Val1446Met p.V1446M ENST00000262043 16/16 70 65 5 60 59 0 PHF3,missense_variant,p.Val1446Met,ENST00000262043,NM_001290259.1;PHF3,missense_variant,p.Val1446Met,ENST00000393387,NM_015153.3;PHF3,missense_variant,p.Val715Met,ENST00000515594,;PHF3,intron_variant,,ENST00000505138,;PHF3,downstream_gene_variant,,ENST00000506783,;PHF3,3_prime_UTR_variant,,ENST00000509876,; A ENSG00000118482 ENST00000262043 Transcript missense_variant 4676/8233 4336/6120 1446/2039 V/M Gtg/Atg 1 1 PHF3 HGNC HGNC:8921 protein_coding YES CCDS4966.1 ENSP00000262043 Q92576 UPI000007154D NM_001290259.1 deleterious(0) probably_damaging(0.998) 16/16 hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF10 MODERATE 1 SNV 5 PASS CGT . . 63711924 SIM1 . GRCh38 chr6 100448558 100448558 + Missense_Mutation SNP C C T rs374696271 7316-407 BS_DKKJWR3M C C c.664G>A p.Val222Ile p.V222I ENST00000369208 7/12 83 41 42 37 37 0 SIM1,missense_variant,p.Val222Ile,ENST00000369208,;SIM1,missense_variant,p.Val222Ile,ENST00000262901,NM_005068.2; T ENSG00000112246 ENST00000369208 Transcript missense_variant 1447/8430 664/2301 222/766 V/I Gtc/Atc rs374696271,COSM3142517 1 -1 SIM1 HGNC HGNC:10882 protein_coding YES CCDS5045.1 ENSP00000358210 P81133 UPI000013D355 tolerated(1) benign(0.037) 7/12 hmmpanther:PTHR23043:SF22,hmmpanther:PTHR23043,SMART_domains:SM00091 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACG . . 100448558 SOGA3 . GRCh38 chr6 127515684 127515684 + Missense_Mutation SNP T T G novel 7316-407 BS_DKKJWR3M T T c.931A>C p.Met311Leu p.M311L ENST00000525778 2/7 81 66 13 40 40 0 SOGA3,missense_variant,p.Met311Leu,ENST00000525778,NM_001012279.2;SOGA3,missense_variant,p.Met311Leu,ENST00000465909,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;AL096711.2,missense_variant,p.Met311Leu,ENST00000481848,;,regulatory_region_variant,,ENSR00000202443,; G ENSG00000214338 ENST00000525778 Transcript missense_variant 1677/4077 931/2844 311/947 M/L Atg/Ctg 1 -1 SOGA3 HGNC HGNC:21494 protein_coding YES CCDS43505.1 ENSP00000434570 Q5TF21 UPI0000419273 NM_001012279.2 tolerated_low_confidence(0.44) benign(0.01) 2/7 Gene3D:1.20.5.170,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATT . . 127515684 AKAP12 . GRCh38 chr6 151350408 151350408 + Missense_Mutation SNP G G A rs771068398 7316-407 BS_DKKJWR3M G G c.2017G>A p.Val673Met p.V673M ENST00000402676 4/5 76 70 5 32 32 0 AKAP12,missense_variant,p.Val673Met,ENST00000402676,NM_005100.3;AKAP12,missense_variant,p.Val673Met,ENST00000253332,;AKAP12,missense_variant,p.Val575Met,ENST00000354675,NM_144497.2;AKAP12,missense_variant,p.Val568Met,ENST00000359755,;AKAP12,downstream_gene_variant,,ENST00000490177,; A ENSG00000131016 ENST00000402676 Transcript missense_variant 2257/8432 2017/5349 673/1782 V/M Gtg/Atg rs771068398 1 1 AKAP12 HGNC HGNC:370 protein_coding YES CCDS5229.1 ENSP00000384537 Q02952 UPI000013CDC7 NM_005100.3 deleterious(0) possibly_damaging(0.639) 4/5 mobidb-lite,hmmpanther:PTHR23209 MODERATE 1 SNV 5 PASS GGT . . 4.065e-06 8.967e-06 151350408 PRKAR1B . GRCh38 chr7 680605 680605 + Missense_Mutation SNP A A C novel 7316-407 BS_DKKJWR3M A A c.299T>G p.Val100Gly p.V100G ENST00000406797 3/11 67 45 8 41 40 0 PRKAR1B,missense_variant,p.Val100Gly,ENST00000406797,NM_001164761.1;PRKAR1B,missense_variant,p.Val100Gly,ENST00000537384,NM_001164760.1;PRKAR1B,missense_variant,p.Val100Gly,ENST00000544935,NM_001164759.1,NM_001164762.1;PRKAR1B,missense_variant,p.Val100Gly,ENST00000360274,NM_002735.2;PRKAR1B,missense_variant,p.Val100Gly,ENST00000403562,NM_001164758.1;PRKAR1B,missense_variant,p.Val100Gly,ENST00000430040,;PRKAR1B,missense_variant,p.Val45Gly,ENST00000414568,;PRKAR1B,missense_variant,p.Val100Gly,ENST00000417852,;PRKAR1B,missense_variant,p.Val100Gly,ENST00000456696,; C ENSG00000188191 ENST00000406797 Transcript missense_variant 474/2553 299/1146 100/381 V/G gTg/gGg 1 -1 PRKAR1B HGNC HGNC:9390 protein_coding YES CCDS34579.1 ENSP00000385749 P31321 UPI000021C478 NM_001164761.1 deleterious(0.02) benign(0.127) 3/11 Gene3D:2.60.120.10,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF126,PIRSF_domain:PIRSF000548,PDB-ENSP_mappings:4din.B MODERATE 1 SNV 1 1 PASS CAC . . 680605 COPG2 . GRCh38 chr7 130563286 130563286 + Missense_Mutation SNP C C T novel 7316-407 BS_DKKJWR3M C C c.922G>A p.Val308Met p.V308M ENST00000425248 11/24 67 60 7 41 40 0 COPG2,missense_variant,p.Val308Met,ENST00000425248,NM_012133.5;COPG2,missense_variant,p.Val308Met,ENST00000330992,NM_001290033.1;COPG2,non_coding_transcript_exon_variant,,ENST00000617523,; T ENSG00000158623 ENST00000425248 Transcript missense_variant 1002/3134 922/2616 308/871 V/M Gtg/Atg 1 -1 COPG2 HGNC HGNC:2237 protein_coding YES CCDS75662.1 ENSP00000402346 Q9UBF2 A0A140VK12 UPI0000000960 NM_012133.5 deleterious(0) possibly_damaging(0.809) 11/24 Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037093,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF4,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS ACA . . 130563286 SMARCA2 . GRCh38 chr9 2039776 2039777 + In_Frame_Ins INS - - CAG rs745316697 7316-407 BS_DKKJWR3M - - c.705_707dup p.Gln238dup p.Q238dup ENST00000382203 4/34 79 45 13 64 50 0 SMARCA2,inframe_insertion,p.Gln238dup,ENST00000637806,;SMARCA2,inframe_insertion,p.Gln238dup,ENST00000636559,;SMARCA2,inframe_insertion,p.Gln238dup,ENST00000382203,NM_001289396.1;SMARCA2,inframe_insertion,p.Gln238dup,ENST00000357248,NM_139045.3;SMARCA2,inframe_insertion,p.Gln238dup,ENST00000349721,NM_003070.4;SMARCA2,inframe_insertion,p.Gln238dup,ENST00000382194,;SMARCA2,inframe_insertion,p.Gln238dup,ENST00000637103,;SMARCA2,inframe_insertion,p.Gln238dup,ENST00000450198,NM_001289397.1;SMARCA2,inframe_insertion,p.Gln238dup,ENST00000636903,;SMARCA2,downstream_gene_variant,,ENST00000439732,;SMARCA2,downstream_gene_variant,,ENST00000457226,;SMARCA2,downstream_gene_variant,,ENST00000634287,;AL359076.1,downstream_gene_variant,,ENST00000426860,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000491574,;SMARCA2,inframe_insertion,p.Gln238dup,ENST00000634760,;,regulatory_region_variant,,ENSR00000232491,; CAG ENSG00000080503 ENST00000382203 Transcript inframe_insertion 875-876/5867 666-667/4773 222-223/1590 -/Q -/CAG rs745316697 1 1 SMARCA2 HGNC HGNC:11098 protein_coding YES CCDS34977.1 ENSP00000371638 P51531 UPI00001AE8EB NM_001289396.1 4/34 Gene3D:2.130.10.10,Coiled-coils_(Ncoils):Coil,mobidb-lite,Low_complexity_(Seg):seg likely_benign MODERATE 1 insertion 1 41 1 PASS AAC . . 2039776 FREM1 . GRCh38 chr9 14792861 14792861 + Missense_Mutation SNP A A C novel 7316-407 BS_DKKJWR3M A A c.3863T>G p.Met1288Arg p.M1288R ENST00000422223 23/38 83 73 10 48 48 0 FREM1,missense_variant,p.Met1288Arg,ENST00000422223,NM_144966.5;FREM1,missense_variant,p.Met1288Arg,ENST00000380880,;AL512643.1,downstream_gene_variant,,ENST00000635735,;FREM1,upstream_gene_variant,,ENST00000466679,;FREM1,missense_variant,p.Met1288Arg,ENST00000380875,;FREM1,non_coding_transcript_exon_variant,,ENST00000497634,; C ENSG00000164946 ENST00000422223 Transcript missense_variant 4679/10086 3863/6540 1288/2179 M/R aTg/aGg 1 -1 FREM1 HGNC HGNC:23399 protein_coding YES CCDS47952.1 ENSP00000412940 Q5H8C1 UPI000057A218 NM_144966.5 tolerated(0.09) benign(0.005) 23/38 hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24,Pfam_domain:PF16184,Gene3D:2.60.40.10 MODERATE 1 SNV 5 1 PASS CAT . . 14792861 SPATA31E1 . GRCh38 chr9 87888818 87888818 + Missense_Mutation SNP C C A novel 7316-407 BS_DKKJWR3M C C c.4331C>A p.Ala1444Asp p.A1444D ENST00000325643 4/4 83 38 45 55 54 0 SPATA31E1,missense_variant,p.Ala1444Asp,ENST00000325643,NM_178828.4; A ENSG00000177992 ENST00000325643 Transcript missense_variant 4397/4478 4331/4338 1444/1445 A/D gCc/gAc 1 1 SPATA31E1 HGNC HGNC:26672 protein_coding YES CCDS6676.1 ENSP00000322640 Q6ZUB1 UPI000036764A NM_178828.4 tolerated_low_confidence(0.13) possibly_damaging(0.529) 4/4 mobidb-lite MODERATE 1 SNV 1 PASS GCC . . 87888818 NR4A3 . GRCh38 chr9 99828484 99828484 + Missense_Mutation SNP T T G novel 7316-407 BS_DKKJWR3M T T c.475T>G p.Phe159Val p.F159V ENST00000618101 4/9 79 61 14 30 28 0 NR4A3,missense_variant,p.Phe159Val,ENST00000618101,NM_173200.2;NR4A3,missense_variant,p.Phe159Val,ENST00000330847,;NR4A3,missense_variant,p.Phe148Val,ENST00000395097,NM_006981.3;NR4A3,missense_variant,p.Phe148Val,ENST00000338488,NM_173199.2; G ENSG00000119508 ENST00000618101 Transcript missense_variant 1243/5706 475/1914 159/637 F/V Ttc/Gtc 1 1 NR4A3 HGNC HGNC:7982 protein_coding YES CCDS6742.1 ENSP00000482027 Q92570 UPI0000160FE4 NM_173200.2 deleterious(0.01) benign(0.194) 4/9 Gene3D:1.10.565.10,Prints_domain:PR01284,hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS CTT . . 99828484 C9orf50 . GRCh38 chr9 129620214 129620214 + Missense_Mutation SNP G G A novel 7316-407 BS_DKKJWR3M G G c.361C>T p.Pro121Ser p.P121S ENST00000372478 1/7 77 69 7 55 54 0 C9orf50,missense_variant,p.Pro121Ser,ENST00000372478,NM_199350.3;NTMT1,5_prime_UTR_variant,,ENST00000613644,NM_001286797.1;NTMT1,intron_variant,,ENST00000372486,NM_001286796.1;C9orf50,intron_variant,,ENST00000619117,;,regulatory_region_variant,,ENSR00000242046,; A ENSG00000179058 ENST00000372478 Transcript missense_variant 563/1620 361/1296 121/431 P/S Cct/Tct 1 -1 C9orf50 HGNC HGNC:23677 protein_coding YES CCDS35159.1 ENSP00000361556 Q5SZB4 UPI00001D76F7 NM_199350.3 deleterious(0.04) benign(0.058) 1/7 hmmpanther:PTHR36865,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GGC . . 129620214 DBH . GRCh38 chr9 133643468 133643468 + Missense_Mutation SNP T T C novel 7316-407 BS_DKKJWR3M T T c.800T>C p.Phe267Ser p.F267S ENST00000393056 4/12 92 44 48 39 38 0 DBH,missense_variant,p.Phe267Ser,ENST00000393056,NM_000787.3;DBH,missense_variant,p.Phe204Ser,ENST00000263611,; C ENSG00000123454 ENST00000393056 Transcript missense_variant 812/2763 800/1854 267/617 F/S tTc/tCc 1 1 DBH HGNC HGNC:2689 protein_coding YES CCDS6977.2 ENSP00000376776 P09172 UPI0000E5D219 NM_000787.3 deleterious(0.02) possibly_damaging(0.77) 4/12 Gene3D:2.60.120.310,PDB-ENSP_mappings:4zel.A,PDB-ENSP_mappings:4zel.B,Pfam_domain:PF01082,Prints_domain:PR00767,PROSITE_patterns:PS00084,hmmpanther:PTHR10157,Superfamily_domains:SSF49742 MODERATE 1 SNV 1 1 PASS TTC . . 133643468 OLFM1 . GRCh38 chr9 135077151 135077152 + Frame_Shift_Del DEL CA CA - rs746234323 7316-407 BS_DKKJWR3M CA CA c.452_453del p.Thr151MetfsTer41 p.T151Mfs*41 ENST00000371799 2/2 81 69 6 29 26 0 OLFM1,frameshift_variant,p.Thr151MetfsTer41,ENST00000371799,;OLFM1,intron_variant,,ENST00000252854,NM_014279.4;OLFM1,intron_variant,,ENST00000277415,NM_006334.3;OLFM1,downstream_gene_variant,,ENST00000371801,; - ENSG00000130558 ENST00000371799 Transcript frameshift_variant 721-722/961 436-437/504 146/167 H/X CAc/c rs746234323 1 1 OLFM1 HGNC HGNC:17187 protein_coding ENSP00000360864 Q6IMJ6 UPI00003B288C 2/2 Low_complexity_(Seg):seg HIGH 1 deletion 1 16 PASS TGCAC . . 0.01356 0.002985 0.009381 0.02051 0.004585 0.01011 0.01657 0.01389 0.02077 135077150 KIAA1217 . GRCh38 chr10 24501466 24501466 + Missense_Mutation SNP C C A novel 7316-407 BS_DKKJWR3M C C c.1922C>A p.Ala641Asp p.A641D ENST00000376454 9/21 77 71 6 46 46 0 KIAA1217,missense_variant,p.Ala324Asp,ENST00000376451,;KIAA1217,missense_variant,p.Ala641Asp,ENST00000376454,NM_019590.4;KIAA1217,missense_variant,p.Ala561Asp,ENST00000376462,NM_001098500.2;KIAA1217,missense_variant,p.Ala606Asp,ENST00000376452,NM_001282767.1;KIAA1217,missense_variant,p.Ala606Asp,ENST00000458595,NM_001282768.1;KIAA1217,missense_variant,p.Ala561Asp,ENST00000430453,;KIAA1217,missense_variant,p.Ala324Asp,ENST00000396445,;KIAA1217,missense_variant,p.Ala324Asp,ENST00000307544,NM_001282769.1;KIAA1217,missense_variant,p.Ala606Asp,ENST00000376456,;KIAA1217,missense_variant,p.Ala324Asp,ENST00000396446,NM_001282770.1,NM_001321681.1;KIAA1217,missense_variant,p.Ala456Asp,ENST00000438429,;KIAA1217,non_coding_transcript_exon_variant,,ENST00000460373,; A ENSG00000120549 ENST00000376454 Transcript missense_variant 1952/7381 1922/5832 641/1943 A/D gCc/gAc 1 1 KIAA1217 HGNC HGNC:25428 protein_coding YES CCDS31165.1 ENSP00000365637 Q5T5P2 UPI000013EC2A NM_019590.4 tolerated(0.1) possibly_damaging(0.67) 9/21 hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4,Pfam_domain:PF03915 MODERATE 1 SNV 1 PASS GCC . . 24501466 AGAP9 . GRCh38 chr10 47523490 47523490 + Missense_Mutation SNP C C T rs1356920102 7316-407 BS_DKKJWR3M C C c.37G>A p.Val13Ile p.V13I ENST00000452145 1/8 48 32 16 31 29 1 AGAP9,missense_variant,p.Val13Ile,ENST00000452145,NM_001190810.1;AL591684.2,splice_region_variant,,ENST00000605970,;AL591684.2,splice_region_variant,,ENST00000431840,; T ENSG00000204172 ENST00000452145 Transcript missense_variant 149/2387 37/1977 13/658 V/I Gtc/Atc rs1356920102,COSM4419324,COSM4419323 1 -1 AGAP9 HGNC HGNC:23463 protein_coding YES CCDS73125.1 ENSP00000392206 Q5VTM2 UPI000019733B NM_001190810.1 deleterious_low_confidence(0.02) possibly_damaging(0.796) 1/8 hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF383 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ACG . . 47523490 BMPR1A . GRCh38 chr10 86890110 86890110 + Frame_Shift_Del DEL C C - novel 7316-407 BS_DKKJWR3M C C c.117del p.Asp40ThrfsTer9 p.D40Tfs*9 ENST00000372037 4/13 66 32 31 61 60 0 BMPR1A,frameshift_variant,p.Asp40ThrfsTer9,ENST00000372037,NM_004329.2;BMPR1A,frameshift_variant,p.Asp40ThrfsTer?,ENST00000480152,;RNU1-19P,downstream_gene_variant,,ENST00000363306,;BMPR1A,frameshift_variant,p.Asp40ThrfsTer9,ENST00000638429,;BMPR1A,frameshift_variant,p.Asp40ThrfsTer9,ENST00000635816,;BMPR1A,frameshift_variant,p.Asp40ThrfsTer9,ENST00000636056,; - ENSG00000107779 ENST00000372037 Transcript frameshift_variant 653/11255 116/1599 39/532 S/X tCc/tc 1 1 BMPR1A HGNC HGNC:1076 protein_coding YES CCDS7378.1 ENSP00000361107 P36894 UPI000006EB08 NM_004329.2 4/13 PDB-ENSP_mappings:1rew.C,PDB-ENSP_mappings:1rew.D,PDB-ENSP_mappings:2goo.B,PDB-ENSP_mappings:2goo.E,PDB-ENSP_mappings:2h62.C,PDB-ENSP_mappings:2h64.B,PDB-ENSP_mappings:2qj9.C,PDB-ENSP_mappings:2qj9.D,PDB-ENSP_mappings:2qja.C,PDB-ENSP_mappings:2qja.D,PDB-ENSP_mappings:2qjb.C,PDB-ENSP_mappings:2qjb.D,PDB-ENSP_mappings:3nh7.A,PDB-ENSP_mappings:3nh7.B,PDB-ENSP_mappings:3nh7.C,PDB-ENSP_mappings:3nh7.D,PDB-ENSP_mappings:3qb4.B,PDB-ENSP_mappings:3qb4.D,hmmpanther:PTHR23255:SF50,hmmpanther:PTHR23255 HIGH 1 deletion 1 1 1 PASS CTCC . . 86890109 MYOF . GRCh38 chr10 93351816 93351816 + Missense_Mutation SNP C C T rs760306736 7316-407 BS_DKKJWR3M C C c.3512G>A p.Arg1171Gln p.R1171Q ENST00000359263 33/54 72 59 12 47 47 0 MYOF,missense_variant,p.Arg1171Gln,ENST00000359263,NM_013451.3;MYOF,missense_variant,p.Arg1158Gln,ENST00000358334,NM_133337.2;MYOF,missense_variant,p.Arg546Gln,ENST00000463743,; T ENSG00000138119 ENST00000359263 Transcript missense_variant 3512/6719 3512/6186 1171/2061 R/Q cGg/cAg rs760306736 1 -1 MYOF HGNC HGNC:3656 protein_coding YES CCDS41551.1 ENSP00000352208 Q9NZM1 UPI000012FBA1 NM_013451.3 tolerated(1) benign(0.012) 33/54 Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF55,SMART_domains:SM00239,Superfamily_domains:SSF49562,cd04017 MODERATE 1 SNV 1 PASS CCG . . 3.21e-05 0.0001302 3.829e-05 4.04e-05 93351816 STK32C . GRCh38 chr10 132307590 132307590 + Missense_Mutation SNP A A C novel 7316-407 BS_DKKJWR3M A A c.244T>G p.Phe82Val p.F82V ENST00000298630 1/12 47 30 9 44 43 0 STK32C,missense_variant,p.Phe82Val,ENST00000298630,NM_001318878.1,NM_173575.3;STK32C,intron_variant,,ENST00000368620,;STK32C,upstream_gene_variant,,ENST00000368622,NM_001318879.1;,regulatory_region_variant,,ENSR00000035385,; C ENSG00000165752 ENST00000298630 Transcript missense_variant 351/2086 244/1461 82/486 F/V Ttt/Gtt 1 -1 STK32C HGNC HGNC:21332 protein_coding YES CCDS7666.1 ENSP00000298630 Q86UX6 A0A140VJW0 UPI0000192113 NM_001318878.1,NM_173575.3 tolerated(0.18) benign(0.053) 1/12 Gene3D:3.30.200.20,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF153 MODERATE 1 SNV 1 PASS AAC . . 132307590 BRSK2 . GRCh38 chr11 1450632 1450632 + Missense_Mutation SNP A A C novel 7316-407 BS_DKKJWR3M A A c.1471A>C p.Lys491Gln p.K491Q ENST00000382179 14/20 100 88 10 39 39 0 BRSK2,missense_variant,p.Lys445Gln,ENST00000308219,NM_003957.3;BRSK2,missense_variant,p.Lys445Gln,ENST00000528841,NM_001256627.1;BRSK2,missense_variant,p.Lys491Gln,ENST00000382179,NM_001256630.1;BRSK2,missense_variant,p.Lys385Gln,ENST00000528710,NM_001282218.1;BRSK2,missense_variant,p.Lys445Gln,ENST00000531197,NM_001256629.1;BRSK2,missense_variant,p.Lys467Gln,ENST00000526678,;BRSK2,upstream_gene_variant,,ENST00000533606,;BRSK2,upstream_gene_variant,,ENST00000544817,;BRSK2,missense_variant,p.Lys445Gln,ENST00000529433,;BRSK2,3_prime_UTR_variant,,ENST00000529951,;BRSK2,upstream_gene_variant,,ENST00000526768,;BRSK2,upstream_gene_variant,,ENST00000531932,;,regulatory_region_variant,,ENSR00000035790,; C ENSG00000174672 ENST00000382179 Transcript missense_variant 1724/3576 1471/2301 491/766 K/Q Aag/Cag 1 1 BRSK2 HGNC HGNC:11405 protein_coding YES CCDS58108.1 ENSP00000371614 Q8IWQ3 UPI000035E827 NM_001256630.1 tolerated(0.12) probably_damaging(0.951) 14/20 hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF84,mobidb-lite MODERATE 1 SNV 2 PASS CAA . . 1450632 AHNAK . GRCh38 chr11 62528587 62528587 + Missense_Mutation SNP C C A novel 7316-407 BS_DKKJWR3M C C c.5830G>T p.Val1944Leu p.V1944L ENST00000378024 5/5 60 49 8 55 50 0 AHNAK,missense_variant,p.Val1944Leu,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 6105/18787 5830/17673 1944/5890 V/L Gtg/Ttg 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.79) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 MODERATE 1 SNV 2 PASS ACC . . 62528587 TAS2R31 . GRCh38 chr12 11031194 11031194 + Missense_Mutation SNP G G C rs760444623 7316-407 BS_DKKJWR3M G G c.142C>G p.Leu48Val p.L48V ENST00000390675 1/1 59 53 6 47 47 0 TAS2R31,missense_variant,p.Leu48Val,ENST00000390675,NM_176885.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000256436 ENST00000390675 Transcript missense_variant 214/1021 142/930 48/309 L/V Ctc/Gtc rs760444623,COSM3746271 1 -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538 UPI000000D820 NM_176885.2 deleterious(0.05) possibly_damaging(0.558) 1/1 Transmembrane_helices:TMhelix,cd15027,hmmpanther:PTHR11394:SF79,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS AGA . . 0.002066 0.0003228 0.0003467 0.0004938 0.0003657 0.0005431 0.004212 0.001326 0.000656 11031194 MUC19 . GRCh38 chr12 40503717 40503717 + Splice_Region SNP C C T rs796932347 7316-407 BS_DKKJWR3M C C n.19048C>T ENST00000454784 68/173 97 87 9 48 47 1 MUC19,splice_region_variant,,ENST00000454784,NM_173600.2; T ENSG00000205592 ENST00000454784 Transcript splice_region_variant,non_coding_transcript_exon_variant 19048/24829 rs796932347 1 1 MUC19 HGNC HGNC:14362 processed_transcript NM_173600.2 68/173 LOW 1 SNV 5 PASS GCA . . 40503717 MMAB . GRCh38 chr12 109568869 109568870 + Splice_Region INS - - A novel 7316-407 BS_DKKJWR3M - - c.197-7dup ENST00000545712 73 61 6 50 48 0 MMAB,splice_region_variant,,ENST00000537236,;MMAB,splice_region_variant,,ENST00000545712,NM_052845.3;MMAB,intron_variant,,ENST00000540016,;MVK,upstream_gene_variant,,ENST00000228510,NM_000431.3,NM_001114185.2;MVK,upstream_gene_variant,,ENST00000392727,NM_001301182.1;MVK,upstream_gene_variant,,ENST00000539335,;MVK,upstream_gene_variant,,ENST00000539696,;MVK,upstream_gene_variant,,ENST00000546277,;RNU4-32P,upstream_gene_variant,,ENST00000363404,;MVK,upstream_gene_variant,,ENST00000535044,;MMAB,splice_region_variant,,ENST00000420167,;MMAB,splice_region_variant,,ENST00000503497,;MMAB,splice_region_variant,,ENST00000536760,;MMAB,splice_region_variant,,ENST00000537496,;MMAB,splice_region_variant,,ENST00000541763,;MMAB,splice_region_variant,,ENST00000542390,;MMAB,splice_region_variant,,ENST00000544051,;MVK,upstream_gene_variant,,ENST00000447878,;MVK,upstream_gene_variant,,ENST00000537237,;MVK,upstream_gene_variant,,ENST00000545774,; A ENSG00000139428 ENST00000545712 Transcript splice_region_variant,intron_variant 1 -1 MMAB HGNC HGNC:19331 protein_coding YES CCDS9131.1 ENSP00000445920 Q96EY8 UPI0000073CBF NM_052845.3 2/8 LOW 1 insertion 1 1 PASS GGA . . 109568869 ATP8A2 . GRCh38 chr13 26012629 26012629 + Splice_Region SNP A A C rs1425163033 7316-407 BS_DKKJWR3M A A c.3469+7A>C ENST00000381655 70 53 10 35 35 0 ATP8A2,splice_region_variant,,ENST00000255283,;ATP8A2,splice_region_variant,,ENST00000381655,NM_001313741.1,NM_016529.5;ATP8A2,splice_region_variant,,ENST00000281620,;,regulatory_region_variant,,ENSR00000060188,; C ENSG00000132932 ENST00000381655 Transcript splice_region_variant,intron_variant rs1425163033 1 1 ATP8A2 HGNC HGNC:13533 protein_coding YES CCDS41873.1 ENSP00000371070 Q9NTI2 UPI0000229592 NM_001313741.1,NM_016529.5 36/36 LOW 1 SNV 1 1 PASS TAC . . 26012629 SALL2 . GRCh38 chr14 21523978 21523978 + Missense_Mutation SNP C C T rs1466129540 7316-407 BS_DKKJWR3M C C c.1750G>A p.Ala584Thr p.A584T ENST00000614342 2/2 89 82 7 39 39 0 SALL2,missense_variant,p.Ala584Thr,ENST00000614342,NM_005407.2;SALL2,missense_variant,p.Ala447Thr,ENST00000450879,NM_001291447.1;SALL2,missense_variant,p.Ala443Thr,ENST00000546363,NM_001291446.1;SALL2,intron_variant,,ENST00000611430,;SALL2,intron_variant,,ENST00000613414,;SALL2,downstream_gene_variant,,ENST00000537235,;SALL2,downstream_gene_variant,,ENST00000541965,;AL161747.2,downstream_gene_variant,,ENST00000535893,; T ENSG00000165821 ENST00000614342 Transcript missense_variant 2045/4942 1750/3024 584/1007 A/T Gcc/Acc rs1466129540,COSM6044625 1 -1 SALL2 HGNC HGNC:10526 protein_coding YES CCDS32045.1 ENSP00000483562 Q9Y467 UPI0000135524 NM_005407.2 tolerated(0.65) benign(0.009) 2/2 hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF15 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCC . . 21523978 DYNC1H1 . GRCh38 chr14 102047813 102047813 + Splice_Region SNP C C A novel 7316-407 BS_DKKJWR3M C C c.13007-4C>A ENST00000360184 59 24 34 29 29 0 DYNC1H1,splice_region_variant,,ENST00000360184,NM_001376.4;DYNC1H1,splice_region_variant,,ENST00000644881,;DYNC1H1,splice_region_variant,,ENST00000645149,;DYNC1H1,splice_region_variant,,ENST00000647204,;AL118558.1,intron_variant,,ENST00000553701,;AL118558.1,intron_variant,,ENST00000557242,;DYNC1H1,downstream_gene_variant,,ENST00000555102,;AL118558.1,upstream_gene_variant,,ENST00000557551,;DYNC1H1,splice_region_variant,,ENST00000643437,;DYNC1H1,splice_region_variant,,ENST00000643591,;DYNC1H1,splice_region_variant,,ENST00000643829,;DYNC1H1,splice_region_variant,,ENST00000644239,;DYNC1H1,splice_region_variant,,ENST00000644794,;DYNC1H1,splice_region_variant,,ENST00000645039,;DYNC1H1,splice_region_variant,,ENST00000645085,;DYNC1H1,splice_region_variant,,ENST00000645978,;DYNC1H1,splice_region_variant,,ENST00000647366,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000643729,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000647143,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000555062,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000556229,;DYNC1H1,downstream_gene_variant,,ENST00000642716,;DYNC1H1,downstream_gene_variant,,ENST00000645697,;DYNC1H1,downstream_gene_variant,,ENST00000646418,;AL118558.1,downstream_gene_variant,,ENST00000646837,; A ENSG00000197102 ENST00000360184 Transcript splice_region_variant,intron_variant 1 1 DYNC1H1 HGNC HGNC:2961 protein_coding YES CCDS9966.1 ENSP00000348965 Q14204 UPI00001B515A NM_001376.4 72/77 LOW 1 SNV 1 1 PASS CCC . . 102047813 ANKS3 . GRCh38 chr16 4701121 4701121 + Missense_Mutation SNP G G C novel 7316-407 BS_DKKJWR3M G G c.1133C>G p.Ala378Gly p.A378G ENST00000304283 11/18 94 89 5 45 45 0 ANKS3,missense_variant,p.Ala378Gly,ENST00000304283,NM_133450.3;ANKS3,missense_variant,p.Ala378Gly,ENST00000614075,;ANKS3,missense_variant,p.Ala271Gly,ENST00000450067,NM_001242929.1,NM_001324129.1;ANKS3,missense_variant,p.Ala249Gly,ENST00000446014,NM_001308089.1,NM_001324130.1;ANKS3,missense_variant,p.Ala305Gly,ENST00000585773,;ANKS3,missense_variant,p.Ala271Gly,ENST00000592421,;ANKS3,missense_variant,p.Ala205Gly,ENST00000586605,;ANKS3,missense_variant,p.Ala172Gly,ENST00000586166,;ANKS3,intron_variant,,ENST00000588513,;ANKS3,downstream_gene_variant,,ENST00000589065,;ANKS3,downstream_gene_variant,,ENST00000592698,;ANKS3,3_prime_UTR_variant,,ENST00000592077,;ANKS3,3_prime_UTR_variant,,ENST00000590193,;ANKS3,3_prime_UTR_variant,,ENST00000590730,;ANKS3,3_prime_UTR_variant,,ENST00000592068,;ANKS3,non_coding_transcript_exon_variant,,ENST00000591653,;ANKS3,non_coding_transcript_exon_variant,,ENST00000590803,;ANKS3,non_coding_transcript_exon_variant,,ENST00000592840,;ANKS3,downstream_gene_variant,,ENST00000586159,;ANKS3,downstream_gene_variant,,ENST00000586632,;ANKS3,upstream_gene_variant,,ENST00000588398,;ANKS3,upstream_gene_variant,,ENST00000589035,;ANKS3,upstream_gene_variant,,ENST00000591185,; C ENSG00000168096 ENST00000304283 Transcript missense_variant 1428/2662 1133/1971 378/656 A/G gCc/gGc 1 -1 ANKS3 HGNC HGNC:29422 protein_coding YES CCDS10520.1 ENSP00000304586 Q6ZW76 UPI00001C08FE NM_133450.3 deleterious(0.04) benign(0.001) 11/18 mobidb-lite,hmmpanther:PTHR24184,Gene3D:1.25.40.20 MODERATE 1 SNV 2 1 PASS GGC . . 4701121 ABAT . GRCh38 chr16 8768840 8768840 + Missense_Mutation SNP C C T rs1174585175 7316-407 BS_DKKJWR3M C C c.683C>T p.Thr228Met p.T228M ENST00000396600 11/16 102 51 51 48 48 0 ABAT,missense_variant,p.Thr228Met,ENST00000396600,NM_000663.4;ABAT,missense_variant,p.Thr228Met,ENST00000268251,NM_020686.5;ABAT,missense_variant,p.Thr243Met,ENST00000567812,;ABAT,missense_variant,p.Thr228Met,ENST00000425191,NM_001127448.1;ABAT,missense_variant,p.Thr228Met,ENST00000569156,;ABAT,3_prime_UTR_variant,,ENST00000566590,;ABAT,non_coding_transcript_exon_variant,,ENST00000564453,; T ENSG00000183044 ENST00000396600 Transcript missense_variant 1621/5586 683/1503 228/500 T/M aCg/aTg rs1174585175,COSM5427789 1 1 ABAT HGNC HGNC:23 protein_coding YES CCDS10534.1 ENSP00000379845 P80404 X5D8S1 UPI000006D4FC NM_000663.4 deleterious(0) probably_damaging(0.999) 11/16 Gene3D:3.40.640.10,Pfam_domain:PF00202,PIRSF_domain:PIRSF000521,hmmpanther:PTHR43206,hmmpanther:PTHR43206:SF1,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR00699,cd00610 0,1 MODERATE 1 SNV 5 0,1 1 PASS ACG . . 8768840 GSPT1 . GRCh38 chr16 11896666 11896666 + Missense_Mutation SNP G G C novel 7316-407 BS_DKKJWR3M G G c.556C>G p.His186Asp p.H186D ENST00000434724 4/15 73 39 33 44 42 1 GSPT1,missense_variant,p.His186Asp,ENST00000434724,NM_002094.3;GSPT1,missense_variant,p.His185Asp,ENST00000439887,NM_001130006.1;GSPT1,missense_variant,p.His48Asp,ENST00000563468,;GSPT1,missense_variant,p.His54Asp,ENST00000565267,;GSPT1,missense_variant,p.His48Asp,ENST00000420576,NM_001130007.1;GSPT1,missense_variant,p.His79Asp,ENST00000568849,;GSPT1,missense_variant,p.His78Asp,ENST00000562169,;AC007216.4,downstream_gene_variant,,ENST00000574364,;GSPT1,upstream_gene_variant,,ENST00000567631,; C ENSG00000103342 ENST00000434724 Transcript missense_variant 756/7105 556/1914 186/637 H/D Cat/Gat 1 -1 GSPT1 HGNC HGNC:4621 protein_coding YES CCDS45412.1 ENSP00000398131 P15170 UPI000049DE01 NM_002094.3 tolerated(0.51) benign(0) 4/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23115:SF119,hmmpanther:PTHR23115 MODERATE 1 SNV 1 PASS TGG . . 11896666 GSPT1 . GRCh38 chr16 11915674 11915676 + In_Frame_Del DEL CCG CCG - rs774581447 7316-407 BS_DKKJWR3M CCG CCG c.45_47del p.Gly16del p.G16del ENST00000434724 1/15 72 50 7 35 27 0 GSPT1,inframe_deletion,p.Gly16del,ENST00000434724,NM_002094.3;GSPT1,inframe_deletion,p.Gly16del,ENST00000439887,NM_001130006.1;GSPT1,intron_variant,,ENST00000420576,NM_001130007.1;GSPT1,upstream_gene_variant,,ENST00000562169,;GSPT1,upstream_gene_variant,,ENST00000568849,;,regulatory_region_variant,,ENSR00000083413,;,TF_binding_site_variant,,MA0470.1,; - ENSG00000103342 ENST00000434724 Transcript inframe_deletion 245-247/7105 45-47/1914 15-16/637 GG/G ggCGGg/ggg rs774581447,TMP_ESP_16_12009531_12009539,COSM5850169 1 -1 GSPT1 HGNC HGNC:4621 protein_coding YES CCDS45412.1 ENSP00000398131 P15170 UPI000049DE01 NM_002094.3 1/15 Low_complexity_(Seg):seg,mobidb-lite 0.04891 0.04893 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS TCCCGC . . 0.07464 0.1111 0.09226 0.05989 0.158 0.05303 0.06577 0.07538 0.07042 11915673 PHLPP2 . GRCh38 chr16 71648982 71648982 + Missense_Mutation SNP G G C novel 7316-407 BS_DKKJWR3M G G c.3880C>G p.Gln1294Glu p.Q1294E ENST00000568954 19/19 69 28 39 46 46 0 PHLPP2,missense_variant,p.Gln1227Glu,ENST00000393524,NM_001289003.1;PHLPP2,missense_variant,p.Gln1294Glu,ENST00000568954,NM_015020.3;PHLPP2,missense_variant,p.Gln1329Glu,ENST00000567016,;PHLPP2,intron_variant,,ENST00000564884,;PHLPP2,intron_variant,,ENST00000568004,; C ENSG00000040199 ENST00000568954 Transcript missense_variant 4259/8317 3880/3972 1294/1323 Q/E Caa/Gaa 1 -1 PHLPP2 HGNC HGNC:29149 protein_coding YES CCDS32479.1 ENSP00000457991 Q6ZVD8 UPI0000229F5A NM_015020.3 deleterious_low_confidence(0.02) probably_damaging(0.952) 19/19 mobidb-lite,hmmpanther:PTHR44125:SF1,hmmpanther:PTHR44125 MODERATE 1 SNV 1 PASS TGT . . 71648982 MNT . GRCh38 chr17 2395209 2395209 + Missense_Mutation SNP A A C novel 7316-407 BS_DKKJWR3M A A c.319T>G p.Leu107Val p.L107V ENST00000174618 2/6 37 20 6 32 27 0 MNT,missense_variant,p.Leu107Val,ENST00000174618,NM_020310.2;MNT,intron_variant,,ENST00000575394,;MNT,non_coding_transcript_exon_variant,,ENST00000574559,;MNT,upstream_gene_variant,,ENST00000571232,;MNT,downstream_gene_variant,,ENST00000571836,;MNT,upstream_gene_variant,,ENST00000572892,;MNT,upstream_gene_variant,,ENST00000575374,;MNT,upstream_gene_variant,,ENST00000575402,; C ENSG00000070444 ENST00000174618 Transcript missense_variant 725/4996 319/1749 107/582 L/V Ttg/Gtg 1 -1 MNT HGNC HGNC:7188 protein_coding YES CCDS11018.1 ENSP00000174618 Q99583 UPI000012F2C6 NM_020310.2 tolerated(1) benign(0.264) 2/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11969:SF44,hmmpanther:PTHR11969 MODERATE 1 SNV 1 PASS AAG . . 2395209 GIT1 . GRCh38 chr17 29581744 29581744 + Missense_Mutation SNP G G T novel 7316-407 BS_DKKJWR3M G G c.716C>A p.Pro239Gln p.P239Q ENST00000394869 6/21 142 88 53 43 42 0 GIT1,missense_variant,p.Pro239Gln,ENST00000225394,NM_014030.3;GIT1,missense_variant,p.Pro239Gln,ENST00000394869,NM_001085454.1;GIT1,missense_variant,p.Pro239Gln,ENST00000581348,;GIT1,missense_variant,p.Pro239Gln,ENST00000579937,;GIT1,downstream_gene_variant,,ENST00000335356,;GIT1,downstream_gene_variant,,ENST00000577466,;GIT1,downstream_gene_variant,,ENST00000583413,;GIT1,upstream_gene_variant,,ENST00000585148,;ABHD15-AS1,intron_variant,,ENST00000581474,;GIT1,splice_region_variant,,ENST00000579536,;GIT1,upstream_gene_variant,,ENST00000473217,;GIT1,upstream_gene_variant,,ENST00000491377,;GIT1,upstream_gene_variant,,ENST00000581925,;GIT1,upstream_gene_variant,,ENST00000586574,; T ENSG00000108262 ENST00000394869 Transcript missense_variant,splice_region_variant 887/3711 716/2313 239/770 P/Q cCg/cAg 1 -1 GIT1 HGNC HGNC:4272 protein_coding YES CCDS42290.1 ENSP00000378338 Q9Y2X7 UPI0000E59EEC NM_001085454.1 deleterious(0) probably_damaging(0.998) 6/21 hmmpanther:PTHR23180:SF193,hmmpanther:PTHR23180,Gene3D:1.25.40.20 MODERATE 1 SNV 1 PASS CGG . . 29581744 SMURF2P1 . GRCh38 chr17 30600921 30600921 + Splice_Region SNP T T G rs1427759997 7316-407 BS_DKKJWR3M T T n.121+5T>G ENST00000579301 102 86 11 35 31 1 SMURF2P1,splice_region_variant,,ENST00000579301,;AC005562.1,intron_variant,,ENST00000398849,;,regulatory_region_variant,,ENSR00000093013,;SMURF2P1,splice_region_variant,,ENST00000514992,; G ENSG00000248121 ENST00000579301 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1427759997 1 1 SMURF2P1 HGNC HGNC:44402 processed_transcript YES 1/4 LOW 1 SNV 5 PASS ATG . . 30600921 CCT6B . GRCh38 chr17 34961344 34961344 + Missense_Mutation SNP C C T rs9635769 7316-407 BS_DKKJWR3M C C c.50G>A p.Arg17Gln p.R17Q ENST00000314144 1/14 122 42 77 36 29 5 CCT6B,missense_variant,p.Arg17Gln,ENST00000314144,NM_006584.3;CCT6B,missense_variant,p.Arg17Gln,ENST00000421975,NM_001193529.2;CCT6B,missense_variant,p.Arg17Gln,ENST00000436961,NM_001193530.1;CCT6B,intron_variant,,ENST00000585073,;ZNF830,upstream_gene_variant,,ENST00000361952,NM_052857.3;ZNF830,upstream_gene_variant,,ENST00000578339,;,regulatory_region_variant,,ENSR00000093422,; T ENSG00000132141 ENST00000314144 Transcript missense_variant 166/1838 50/1593 17/530 R/Q cGg/cAg rs9635769,COSM436375 1 -1 CCT6B HGNC HGNC:1621 protein_coding YES CCDS32617.1 ENSP00000327191 Q92526 UPI000013F740 NM_006584.3 tolerated(0.92) benign(0) 1/14 Gene3D:1.10.560.10,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF58,Superfamily_domains:SSF48592,TIGRFAM_domain:TIGR02347,Low_complexity_(Seg):seg 0.5487 0.292 0.4813 0.8353 0.5696 0.6268 0.318 0.5783 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 0.5571 0.312 0.4425 0.5514 0.8322 0.5457 0.5774 0.5542 0.5855 34961344 KRT9 . GRCh38 chr17 41567585 41567585 + Nonsense_Mutation SNP G G T 7316-407 BS_DKKJWR3M G G c.1560C>A p.Tyr520Ter p.Y520* ENST00000246662 7/8 90 77 7 42 39 0 KRT9,stop_gained,p.Tyr520Ter,ENST00000246662,NM_000226.3;KRT9,stop_gained,p.Tyr287Ter,ENST00000588431,;,regulatory_region_variant,,ENSR00000283412,; T ENSG00000171403 ENST00000246662 Transcript stop_gained 1626/2290 1560/1872 520/623 Y/* taC/taA COSM5731376 1 -1 KRT9 HGNC HGNC:6447 protein_coding YES CCDS32654.1 ENSP00000246662 P35527 UPI00001AE6F7 NM_000226.3 7/8 hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Low_complexity_(Seg):seg 1 HIGH 1 SNV 1 1 1 PASS CGT . . 41567585 JUP . GRCh38 chr17 41757535 41757535 + Splice_Region SNP G G A novel 7316-407 BS_DKKJWR3M G G c.1926C>T p.Ala642= p.A642= ENST00000393931 12/14 122 89 33 34 33 0 JUP,splice_region_variant,p.Ala642=,ENST00000393931,NM_002230.2,NM_001352773.1;JUP,splice_region_variant,p.Ala642=,ENST00000393930,NM_001352777.1;JUP,splice_region_variant,p.Ala642=,ENST00000310706,NM_021991.2,NM_001352774.1,NM_001352776.1,NM_001352775.1;JUP,downstream_gene_variant,,ENST00000585793,; A ENSG00000173801 ENST00000393931 Transcript splice_region_variant,synonymous_variant 2045/3497 1926/2238 642/745 A gcC/gcT 1 -1 JUP HGNC HGNC:6207 protein_coding YES CCDS11407.1 ENSP00000377508 P14923 A0A0S2Z487 UPI0000073ED4 NM_002230.2,NM_001352773.1 12/14 Gene3D:1.25.10.10,PDB-ENSP_mappings:3ifq.A,PDB-ENSP_mappings:3ifq.B,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF12,SMART_domains:SM00185,Superfamily_domains:SSF48371 LOW 1 SNV 1 1 PASS TGG . . 41757535 PSME3 . GRCh38 chr17 42838140 42838140 + Nonsense_Mutation SNP C C T novel 7316-407 BS_DKKJWR3M C C c.340C>T p.Gln114Ter p.Q114* ENST00000293362 6/11 102 68 34 43 42 0 PSME3,stop_gained,p.Gln114Ter,ENST00000541124,;PSME3,stop_gained,p.Gln114Ter,ENST00000293362,NM_176863.2;PSME3,stop_gained,p.Gln53Ter,ENST00000545225,;PSME3,stop_gained,p.Gln125Ter,ENST00000441946,NM_001267045.1;PSME3,stop_gained,p.Gln53Ter,ENST00000585805,;PSME3,stop_gained,p.Gln53Ter,ENST00000591152,;PSME3,stop_gained,p.Gln114Ter,ENST00000590720,NM_005789.3;PSME3,stop_gained,p.Gln58Ter,ENST00000592169,;PSME3,stop_gained,p.Gln114Ter,ENST00000589469,;PSME3,stop_gained,p.Gln53Ter,ENST00000586114,;PSME3,intron_variant,,ENST00000622892,;BECN1,upstream_gene_variant,,ENST00000589636,;BECN1,upstream_gene_variant,,ENST00000612631,;PSME3,downstream_gene_variant,,ENST00000592578,;PSME3,3_prime_UTR_variant,,ENST00000586312,;PSME3,non_coding_transcript_exon_variant,,ENST00000593111,;PSME3,intron_variant,,ENST00000543428,;PSME3,downstream_gene_variant,,ENST00000591722,; T ENSG00000131467 ENST00000293362 Transcript stop_gained 501/3144 340/804 114/267 Q/* Cag/Tag 1 1 PSME3 HGNC HGNC:9570 protein_coding YES CCDS11442.1 ENSP00000293362 P61289 UPI000002B1BA NM_176863.2 6/11 Gene3D:1.20.120.180,Pfam_domain:PF02252,hmmpanther:PTHR10660,hmmpanther:PTHR10660:SF4,Superfamily_domains:SSF47216 HIGH 1 SNV 1 PASS GCA . . 42838140 FTSJ3 . GRCh38 chr17 63820139 63820139 + Missense_Mutation SNP G G C novel 7316-407 BS_DKKJWR3M G G c.2291C>G p.Ala764Gly p.A764G ENST00000427159 20/21 118 109 8 40 40 0 FTSJ3,missense_variant,p.Ala764Gly,ENST00000427159,NM_017647.3;DDX42,downstream_gene_variant,,ENST00000359353,;DDX42,downstream_gene_variant,,ENST00000389924,NM_203499.2;DDX42,downstream_gene_variant,,ENST00000457800,;DDX42,downstream_gene_variant,,ENST00000578681,NM_007372.3;DDX42,downstream_gene_variant,,ENST00000583590,;DDX42,downstream_gene_variant,,ENST00000582985,;DDX42,downstream_gene_variant,,ENST00000578593,;DDX42,downstream_gene_variant,,ENST00000579539,;FTSJ3,downstream_gene_variant,,ENST00000579831,;FTSJ3,downstream_gene_variant,,ENST00000580129,;FTSJ3,downstream_gene_variant,,ENST00000580376,;DDX42,downstream_gene_variant,,ENST00000581767,;FTSJ3,downstream_gene_variant,,ENST00000583202,;FTSJ3,downstream_gene_variant,,ENST00000583901,;DDX42,downstream_gene_variant,,ENST00000584010,;DDX42,downstream_gene_variant,,ENST00000584951,; C ENSG00000108592 ENST00000427159 Transcript missense_variant 2937/3559 2291/2544 764/847 A/G gCa/gGa 1 -1 FTSJ3 HGNC HGNC:17136 protein_coding YES CCDS11644.1 ENSP00000396673 Q8IY81 UPI000013C87B NM_017647.3 deleterious(0) probably_damaging(0.998) 20/21 Coiled-coils_(Ncoils):Coil,HAMAP:MF_03163,hmmpanther:PTHR10920:SF13,hmmpanther:PTHR10920,Pfam_domain:PF07780 MODERATE 1 SNV 1 PASS TGC . . 63820139 ROCK1 . GRCh38 chr18 20967811 20967811 + Missense_Mutation SNP T T C novel 7316-407 BS_DKKJWR3M T T c.3133A>G p.Arg1045Gly p.R1045G ENST00000399799 26/33 88 48 39 54 54 0 ROCK1,missense_variant,p.Arg1045Gly,ENST00000399799,NM_005406.2;ROCK1,missense_variant,p.Arg1045Gly,ENST00000635540,;ROCK1,downstream_gene_variant,,ENST00000583556,;ROCK1,downstream_gene_variant,,ENST00000584875,; C ENSG00000067900 ENST00000399799 Transcript missense_variant 4074/9484 3133/4065 1045/1354 R/G Aga/Gga 1 -1 ROCK1 HGNC HGNC:10251 protein_coding YES CCDS11870.2 ENSP00000382697 Q13464 UPI000006F0A4 NM_005406.2 deleterious(0) benign(0.342) 26/33 Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF037568,hmmpanther:PTHR22988:SF33,hmmpanther:PTHR22988,blastprodom:PD936484 MODERATE 1 SNV 1 PASS CTT . . 20967811 CTAGE1 . GRCh38 chr18 22417805 22417805 + Missense_Mutation SNP G G A novel 7316-407 BS_DKKJWR3M G G c.7C>T p.Pro3Ser p.P3S ENST00000391403 1/1 84 31 51 44 43 0 CTAGE1,missense_variant,p.Pro3Ser,ENST00000391403,NM_172241.2;CTAGE1,upstream_gene_variant,,ENST00000525417,;,regulatory_region_variant,,ENSR00000101280,;,regulatory_region_variant,,ENSR00000285333,;AC099849.1,downstream_gene_variant,,ENST00000603437,; A ENSG00000212710 ENST00000391403 Transcript missense_variant 111/4313 7/2238 3/745 P/S Ccc/Tcc 1 -1 CTAGE1 HGNC HGNC:24346 protein_coding YES CCDS45837.1 ENSP00000375220 Q96RT6 UPI00000721F4 NM_172241.2 deleterious(0.01) benign(0.381) 1/1 hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF52 MODERATE 1 SNV PASS GGT . . 22417805 ZNF414 . GRCh38 chr19 8510971 8510971 + Missense_Mutation SNP A A G rs1217969960 7316-407 BS_DKKJWR3M A A c.979T>C p.Cys327Arg p.C327R ENST00000393927 7/8 40 34 5 32 32 0 ZNF414,missense_variant,p.Cys327Arg,ENST00000393927,NM_001146175.1;ZNF414,missense_variant,p.Cys64Arg,ENST00000596772,;ZNF414,downstream_gene_variant,,ENST00000255616,NM_032370.2;ZNF414,downstream_gene_variant,,ENST00000593661,;ZNF414,downstream_gene_variant,,ENST00000594748,;ZNF414,downstream_gene_variant,,ENST00000595348,;ZNF414,downstream_gene_variant,,ENST00000599379,;ZNF414,downstream_gene_variant,,ENST00000600906,;ZNF414,downstream_gene_variant,,ENST00000602128,; G ENSG00000133250 ENST00000393927 Transcript missense_variant 1093/2300 979/1173 327/390 C/R Tgc/Cgc rs1217969960 1 -1 ZNF414 HGNC HGNC:20630 protein_coding YES CCDS54211.1 ENSP00000377504 Q96IQ9 UPI000059D659 NM_001146175.1 deleterious(0) probably_damaging(0.998) 7/8 Gene3D:3.30.160.60,hmmpanther:PTHR21695,SMART_domains:SM00355 MODERATE 1 SNV 1 PASS CAC . . 8510971 ZNF43 . GRCh38 chr19 21807843 21807843 + Missense_Mutation SNP G G T rs1363317472 7316-407 BS_DKKJWR3M G G c.2221C>A p.Gln741Lys p.Q741K ENST00000357491 4/4 66 58 8 54 54 0 ZNF43,missense_variant,p.Gln726Lys,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Gln741Lys,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Gln726Lys,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Gln726Lys,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Gln732Lys,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 2355/5249 2221/2457 741/818 Q/K Caa/Aaa rs1363317472,COSM349539 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TGC . . 4.136e-06 3.393e-05 21807843 ZNF729 . GRCh38 chr19 22314658 22314658 + Missense_Mutation SNP G G A rs1476599446 7316-407 BS_DKKJWR3M G G c.1241G>A p.Ser414Asn p.S414N ENST00000601693 4/4 65 55 6 51 50 0 ZNF729,missense_variant,p.Ser414Asn,ENST00000601693,NM_001242680.1; A ENSG00000196350 ENST00000601693 Transcript missense_variant 1359/3877 1241/3759 414/1252 S/N aGc/aAc rs1476599446 1 1 ZNF729 HGNC HGNC:32464 protein_coding YES CCDS59368.1 ENSP00000469582 A6NN14 UPI000042600C NM_001242680.1 tolerated(0.6) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS AGC . . 22314658 IRGQ . GRCh38 chr19 43592844 43592844 + Missense_Mutation SNP C C T rs200427161 7316-407 BS_DKKJWR3M C C c.1054G>A p.Glu352Lys p.E352K ENST00000422989 3/3 71 41 29 53 52 0 IRGQ,missense_variant,p.Glu352Lys,ENST00000422989,NM_001007561.2;IRGQ,missense_variant,p.Glu352Lys,ENST00000602269,;L34079.1,intron_variant,,ENST00000594374,;ZNF576,upstream_gene_variant,,ENST00000336564,NM_001145347.1;ZNF576,upstream_gene_variant,,ENST00000391965,NM_024327.2;ZNF576,upstream_gene_variant,,ENST00000525771,;ZNF576,upstream_gene_variant,,ENST00000528387,;ZNF576,upstream_gene_variant,,ENST00000529930,;ZNF576,upstream_gene_variant,,ENST00000533118,;IRGQ,downstream_gene_variant,,ENST00000598324,;SRRM5,upstream_gene_variant,,ENST00000607544,;IRGQ,non_coding_transcript_exon_variant,,ENST00000601520,;ZNF576,upstream_gene_variant,,ENST00000595041,;IRGQ,upstream_gene_variant,,ENST00000596409,; T ENSG00000167378 ENST00000422989 Transcript missense_variant 1210/9685 1054/1872 352/623 E/K Gag/Aag rs200427161,COSM997646 1 -1 IRGQ HGNC HGNC:24868 protein_coding YES CCDS33040.1 ENSP00000387535 Q8WZA9 UPI000003FDB6 NM_001007561.2 tolerated(0.34) benign(0.003) 3/3 Gene3D:3.40.50.300,PROSITE_profiles:PS51716,hmmpanther:PTHR19364,mobidb-lite 0.0001163 0,1 MODERATE SNV 5 0,1 PASS TCG . . 8.125e-06 1.79e-05 43592844 ZNF347 . GRCh38 chr19 53141295 53141295 + Missense_Mutation SNP C C A 7316-407 BS_DKKJWR3M C C c.1536G>T p.Lys512Asn p.K512N ENST00000452676 5/5 75 60 6 54 52 0 ZNF347,missense_variant,p.Lys511Asn,ENST00000334197,NM_032584.2;ZNF347,missense_variant,p.Lys512Asn,ENST00000452676,NM_001172674.1;ZNF347,missense_variant,p.Lys512Asn,ENST00000601469,NM_001172675.1;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000595967,;ZNF347,downstream_gene_variant,,ENST00000597183,; A ENSG00000197937 ENST00000452676 Transcript missense_variant 1963/4553 1536/2523 512/840 K/N aaG/aaT COSM1396059 1 -1 ZNF347 HGNC HGNC:16447 protein_coding YES CCDS54314.1 ENSP00000405218 Q96SE7 A0A024R4L7 UPI000059D78C NM_001172674.1 deleterious(0.01) probably_damaging(0.999) 5/5 Gene3D:2.40.155.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF625,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS GCT . . 53141295 SEMG2 . GRCh38 chr20 45222990 45222990 + Missense_Mutation SNP C C A rs771458905 7316-407 BS_DKKJWR3M C C c.1358C>A p.Pro453His p.P453H ENST00000372769 2/3 83 68 12 49 48 1 SEMG2,missense_variant,p.Pro453His,ENST00000372769,NM_003008.2; A ENSG00000124157 ENST00000372769 Transcript missense_variant 1448/2051 1358/1749 453/582 P/H cCt/cAt rs771458905,COSM1130626 1 1 SEMG2 HGNC HGNC:10743 protein_coding YES CCDS13346.1 ENSP00000361855 Q02383 UPI0000135845 NM_003008.2 tolerated(0.19) probably_damaging(0.983) 2/3 Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CCT . . 1.22e-05 1.793e-05 0.0001825 45222990 AP001172.1 . GRCh38 chr21 16292156 16292156 + Splice_Region DEL A A - novel 7316-407 BS_DKKJWR3M A A n.224-8del ENST00000602921 68 55 6 43 41 0 AP001172.1,splice_region_variant,,ENST00000602921,;MIR99AHG,intron_variant,,ENST00000400178,;MIR99AHG,intron_variant,,ENST00000419952,;MIR99AHG,intron_variant,,ENST00000428669,;MIR99AHG,intron_variant,,ENST00000445461,;MIR99AHG,intron_variant,,ENST00000456342,;MIR99AHG,intron_variant,,ENST00000602505,;MIR99AHG,intron_variant,,ENST00000602580,;MIR99AHG,intron_variant,,ENST00000602901,;MIR99AHG,intron_variant,,ENST00000602935,;MIR99AHG,intron_variant,,ENST00000619222,;MIR99AHG,intron_variant,,ENST00000635845,; - ENSG00000270071 ENST00000602921 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AP001172.1 Clone_based_ensembl_gene lincRNA YES 2/2 LOW 1 deletion 3 PASS GCAA . . 16292155 MAPK8IP2 . GRCh38 chr22 50605555 50605555 + Splice_Region SNP A A C novel 7316-407 BS_DKKJWR3M A A c.1842-7A>C ENST00000329492 60 47 11 51 49 1 MAPK8IP2,splice_region_variant,,ENST00000329492,NM_012324.4;CHKB,upstream_gene_variant,,ENST00000463053,;MAPK8IP2,splice_region_variant,,ENST00000008876,; C ENSG00000008735 ENST00000329492 Transcript splice_region_variant,intron_variant 1 1 MAPK8IP2 HGNC HGNC:6883 protein_coding YES CCDS74886.1 ENSP00000330572 Q13387 UPI000012DAB7 NM_012324.4 6/11 LOW 1 SNV 1 PASS AAC . . 50605555 AKAP17A . GRCh38 chrX 1601481 1601481 + Missense_Mutation SNP C T T rs776536251 7316-407 BS_DKKJWR3M C C c.1975C>T p.Arg659Trp p.R659W ENST00000313871 5/5 38 0 37 36 36 0 AKAP17A,missense_variant,p.Arg659Trp,ENST00000313871,NM_005088.2;AKAP17A,downstream_gene_variant,,ENST00000381261,;AKAP17A,3_prime_UTR_variant,,ENST00000474361,; T ENSG00000197976 ENST00000313871 Transcript missense_variant 2171/3204 1975/2088 659/695 R/W Cgg/Tgg rs776536251 1 1 AKAP17A HGNC HGNC:18783 protein_coding YES CCDS14116.1 ENSP00000324827 Q02040 UPI00001AF072 NM_005088.2 deleterious_low_confidence(0) benign(0.266) 5/5 hmmpanther:PTHR12484,hmmpanther:PTHR12484:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCG . . 0.0001903 0.0007763 0.0001488 0.0002318 3.666e-05 1601481 KDM6A . GRCh38 chrX 45034990 45034990 + Splice_Region SNP G T T novel 7316-407 BS_DKKJWR3M G G c.619+5G>T ENST00000377967 35 0 35 26 26 0 KDM6A,splice_region_variant,,ENST00000377967,NM_021140.3;KDM6A,splice_region_variant,,ENST00000382899,NM_001291416.1;KDM6A,splice_region_variant,,ENST00000536777,NM_001291417.1,NM_001291418.1;KDM6A,splice_region_variant,,ENST00000543216,;KDM6A,splice_region_variant,,ENST00000611820,NM_001291415.1;KDM6A,splice_region_variant,,ENST00000621147,; T ENSG00000147050 ENST00000377967 Transcript splice_region_variant,intron_variant 1 1 KDM6A HGNC HGNC:12637 protein_coding YES CCDS14265.1 ENSP00000367203 O15550 UPI000013DA92 NM_021140.3 7/28 LOW 1 SNV 1 1 PASS AGT . . 45034990 DUSP9 . GRCh38 chrX 153648201 153648201 + Missense_Mutation SNP A A C novel 7316-407 BS_DKKJWR3M A A c.248A>C p.Gln83Pro p.Q83P ENST00000342782 2/4 34 16 8 17 17 0 DUSP9,missense_variant,p.Gln83Pro,ENST00000342782,NM_001318503.1;DUSP9,missense_variant,p.Gln83Pro,ENST00000370167,NM_001395.3;DUSP9,downstream_gene_variant,,ENST00000477033,;,regulatory_region_variant,,ENSR00000249577,; C ENSG00000130829 ENST00000342782 Transcript missense_variant 513/2433 248/1155 83/384 Q/P cAg/cCg 1 1 DUSP9 HGNC HGNC:3076 protein_coding YES CCDS14724.1 ENSP00000345853 Q99956 UPI0000049C1B NM_001318503.1 tolerated(0.06) benign(0.302) 2/4 Gene3D:3.40.250.10,Pfam_domain:PF00581,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50206,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF388,SMART_domains:SM00450,Superfamily_domains:SSF52821,cd01446 MODERATE 1 SNV 1 PASS CAG . . 153648201 UBIAD1 . GRCh38 chr1 11294882 11294882 + Nonstop_Mutation SNP A A T novel 7316-3022 BS_0KKH9VKP A A c.539A>T p.Ter180LeuextTer30 p.*180Lext*30 ENST00000376804 2/2 71 65 5 33 32 0 UBIAD1,stop_lost,p.Ter180LeuextTer30,ENST00000376804,;UBIAD1,missense_variant,p.Ser76Cys,ENST00000483738,;UBIAD1,3_prime_UTR_variant,,ENST00000486588,; T ENSG00000120942 ENST00000376804 Transcript stop_lost 543/825 539/540 180/179 */L tAg/tTg 1 1 UBIAD1 HGNC HGNC:30791 protein_coding CCDS81260.1 ENSP00000366000 Q9Y5Z9 UPI0000205F61 2/2 HIGH 1 SNV 2 1 PASS TAG . . 11294882 AL591178.1 . GRCh38 chr1 24042276 24042276 + Splice_Site SNP G G T rs1416420291 7316-3022 BS_0KKH9VKP G G n.109-1G>T ENST00000439239 50 38 8 32 32 0 AL591178.1,splice_acceptor_variant,,ENST00000439239,; T ENSG00000225315 ENST00000439239 Transcript splice_acceptor_variant,non_coding_transcript_variant rs1416420291 1 1 AL591178.1 Clone_based_ensembl_gene antisense YES 1/3 HIGH 1 SNV 5 PASS AGG . . 24042276 CEPT1 . GRCh38 chr1 111161225 111161225 + Frame_Shift_Del DEL T T - novel 7316-3022 BS_0KKH9VKP T T c.561del p.Phe187LeufsTer24 p.F187Lfs*24 ENST00000545121 4/9 60 48 9 19 19 0 CEPT1,frameshift_variant,p.Phe187LeufsTer24,ENST00000545121,NM_001007794.1;CEPT1,frameshift_variant,p.Phe187LeufsTer24,ENST00000357172,NM_006090.3,NM_001330743.1;CEPT1,frameshift_variant,p.Phe187LeufsTer24,ENST00000615636,;CEPT1,non_coding_transcript_exon_variant,,ENST00000478042,;CEPT1,non_coding_transcript_exon_variant,,ENST00000498239,;CEPT1,non_coding_transcript_exon_variant,,ENST00000460443,;CEPT1,downstream_gene_variant,,ENST00000476865,;CEPT1,downstream_gene_variant,,ENST00000480324,; - ENSG00000134255 ENST00000545121 Transcript frameshift_variant 766/2251 558/1251 186/416 C/X tgT/tg 1 1 CEPT1 HGNC HGNC:24289 protein_coding YES CCDS830.1 ENSP00000441980 Q9Y6K0 A0A024R0C0 UPI0000062325 NM_001007794.1 4/9 Gene3D:1.20.1510.10,PIRSF_domain:PIRSF015665,hmmpanther:PTHR10414,hmmpanther:PTHR10414:SF27,Transmembrane_helices:TMhelix HIGH 1 deletion 1 3 PASS TGTT . . 111161224 CACNA1E . GRCh38 chr1 181737635 181737635 + Missense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.3533C>A p.Thr1178Asn p.T1178N ENST00000367573 23/48 75 64 11 29 29 0 CACNA1E,missense_variant,p.Thr1159Asn,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Thr1178Asn,ENST00000621551,;CACNA1E,missense_variant,p.Thr1178Asn,ENST00000367567,;CACNA1E,missense_variant,p.Thr1159Asn,ENST00000358338,;CACNA1E,missense_variant,p.Thr1178Asn,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Thr1178Asn,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Thr1177Asn,ENST00000357570,;CACNA1E,missense_variant,p.Thr1159Asn,ENST00000360108,; A ENSG00000198216 ENST00000367573 Transcript missense_variant 3533/7067 3533/6942 1178/2313 T/N aCc/aAc 1 1 CACNA1E HGNC HGNC:1392 protein_coding YES CCDS55664.1 ENSP00000356545 Q15878 UPI00004588C2 NM_001205293.1 deleterious(0.05) possibly_damaging(0.756) 23/48 Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Superfamily_domains:SSF81324 MODERATE 1 SNV 1 PASS ACC . . 181737635 IGFN1 . GRCh38 chr1 201206771 201206771 + Missense_Mutation SNP G G T novel 7316-3022 BS_0KKH9VKP G G c.1878G>T p.Gln626His p.Q626H ENST00000335211 12/24 93 83 8 34 33 0 IGFN1,missense_variant,p.Gln626His,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,; T ENSG00000163395 ENST00000335211 Transcript missense_variant 2008/11810 1878/11127 626/3708 Q/H caG/caT 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.5) unknown(0) 12/24 mobidb-lite MODERATE 1 SNV 5 PASS AGA . . 201206771 CR1 . GRCh38 chr1 207621975 207621975 + Missense_Mutation SNP A G G rs2296160 7316-3022 BS_0KKH9VKP A A c.7255A>G p.Thr2419Ala p.T2419A ENST00000367049 44/47 60 9 48 21 16 5 CR1,missense_variant,p.Thr1969Ala,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Thr2419Ala,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Thr1969Ala,ENST00000367051,;CR1,missense_variant,p.Thr1969Ala,ENST00000367052,;CR1,missense_variant,p.Thr1969Ala,ENST00000367053,;CR1,missense_variant,p.Thr592Ala,ENST00000529814,; G ENSG00000203710 ENST00000367049 Transcript missense_variant,splice_region_variant 7255/7470 7255/7470 2419/2489 T/A Aca/Gca rs2296160,COSM6310174,COSM6310173 1 1 CR1 HGNC HGNC:2334 protein_coding YES CCDS44308.1 ENSP00000356016 E9PDY4 UPI000040E8CF NM_000651.4 tolerated(0.87) benign(0) 44/47 hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF430 0.8281 0.8162 0.9207 0.6885 0.8221 0.9284 0.8175 0.8168 0,1,1 21347408,25683978,24621201,26000043,23360175,28650998 MODERATE 1 SNV 5 0,1,1 1 PASS TAC . . 0.8199 0.8074 0.9067 0.81 0.6558 0.8031 0.8029 0.8218 0.9012 207621975 SRP9 . GRCh38 chr1 225777950 225777950 + Missense_Mutation SNP T T C rs1184184827 7316-3022 BS_0KKH9VKP T T c.10T>C p.Tyr4His p.Y4H ENST00000304786 1/3 80 56 24 32 31 0 SRP9,missense_variant,p.Tyr4His,ENST00000366839,NM_001130440.1;SRP9,missense_variant,p.Tyr4His,ENST00000304786,NM_003133.5;SRP9,missense_variant,p.Tyr4His,ENST00000366838,;SRP9,missense_variant,p.Tyr4His,ENST00000619790,;SRP9,missense_variant,p.Tyr4His,ENST00000626563,;,regulatory_region_variant,,ENSR00000021017,; C ENSG00000143742 ENST00000304786 Transcript missense_variant 122/1480 10/261 4/86 Y/H Tac/Cac rs1184184827 1 1 SRP9 HGNC HGNC:11304 protein_coding YES CCDS1546.1 ENSP00000305230 P49458 UPI000011E3D2 NM_003133.5 tolerated(0.08) benign(0.319) 1/3 Gene3D:3.30.720.10,Pfam_domain:PF05486,PIRSF_domain:PIRSF017029,hmmpanther:PTHR12834 MODERATE 1 SNV 1 PASS GTA . . 4.064e-06 2.978e-05 225777950 RYR2 . GRCh38 chr1 237631455 237631455 + Nonsense_Mutation SNP C C T novel 7316-3022 BS_0KKH9VKP C C c.6469C>T p.Gln2157Ter p.Q2157* ENST00000366574 42/105 53 32 21 27 27 0 RYR2,stop_gained,p.Gln2157Ter,ENST00000366574,NM_001035.2;RYR2,stop_gained,p.Gln2141Ter,ENST00000360064,; T ENSG00000198626 ENST00000366574 Transcript stop_gained 6786/16562 6469/14904 2157/4967 Q/* Cag/Tag 1 1 RYR2 HGNC HGNC:10484 protein_coding YES CCDS55691.1 ENSP00000355533 Q92736 UPI0000DD0308 NM_001035.2 42/105 hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Pfam_domain:PF01365,Gene3D:1.25.10.30 HIGH 1 SNV 1 1 PASS CCA . . 237631455 APOB . GRCh38 chr2 21015463 21015463 + Missense_Mutation SNP C C T rs778822926 7316-3022 BS_0KKH9VKP C C c.3415G>A p.Ala1139Thr p.A1139T ENST00000233242 22/29 77 59 16 27 27 0 APOB,missense_variant,p.Ala1139Thr,ENST00000233242,NM_000384.2; T ENSG00000084674 ENST00000233242 Transcript missense_variant 3543/14121 3415/13692 1139/4563 A/T Gcc/Acc rs778822926,COSM3407548 1 -1 APOB HGNC HGNC:603 protein_coding YES CCDS1703.1 ENSP00000233242 P04114 UPI0004620B75 NM_000384.2 tolerated(0.55) benign(0) 22/29 hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 1.625e-05 2.686e-05 3.249e-05 21015463 TMEM247 . GRCh38 chr2 46480407 46480407 + Splice_Region SNP G G A rs1221048735 7316-3022 BS_0KKH9VKP G G c.120G>A p.Glu40= p.E40= ENST00000434431 2/3 69 63 6 23 23 0 TMEM247,splice_region_variant,p.Glu40=,ENST00000434431,NM_001145051.2;AC016912.1,intron_variant,,ENST00000432241,; A ENSG00000284701 ENST00000434431 Transcript splice_region_variant,synonymous_variant 141/680 120/659 40/219 E gaG/gaA rs1221048735 1 1 TMEM247 HGNC HGNC:42967 protein_coding YES CCDS56117.1 ENSP00000388684 A6NEH6 UPI0000366EF8 NM_001145051.2 2/3 mobidb-lite,hmmpanther:PTHR36691,Pfam_domain:PF15444 LOW SNV 5 PASS AGG . . 6.918e-06 4.481e-05 46480407 AC093838.1 . GRCh38 chr2 131626163 131626163 + Splice_Region SNP G G A rs1044613689 7316-3022 BS_0KKH9VKP G G n.200+7G>A ENST00000613014 62 52 10 24 24 0 AC093838.1,splice_region_variant,,ENST00000613014,;POTEKP,non_coding_transcript_exon_variant,,ENST00000397487,; A ENSG00000273588 ENST00000613014 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1044613689 1 1 AC093838.1 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/1 LOW 1 SNV PASS CGT . . 131626163 FIGN . GRCh38 chr2 163610828 163610829 + Frame_Shift_Del DEL TT TT - rs1464392854 7316-3022 BS_0KKH9VKP TT TT c.1003_1004del p.Asn335LeufsTer31 p.N335Lfs*31 ENST00000333129 3/3 70 55 8 36 34 0 FIGN,frameshift_variant,p.Asn335LeufsTer31,ENST00000333129,NM_018086.3;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,; - ENSG00000182263 ENST00000333129 Transcript frameshift_variant 1318-1319/9536 1003-1004/2280 335/759 N/X AAt/t rs1464392854 1 -1 FIGN HGNC HGNC:13285 protein_coding YES CCDS2221.2 ENSP00000333836 Q5HY92 UPI000022BD13 NM_018086.3 3/3 hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14 HIGH 1 deletion 1 PASS AATTT . . 163610827 COL4A4 . GRCh38 chr2 227104055 227104056 + Splice_Region INS - - A rs758860089 7316-3022 BS_0KKH9VKP - - c.736-4dup ENST00000396625 62 51 8 33 31 0 COL4A4,splice_region_variant,,ENST00000396625,NM_000092.4;COL4A4,splice_region_variant,,ENST00000643379,; A ENSG00000081052 ENST00000396625 Transcript splice_region_variant,intron_variant rs758860089 1 -1 COL4A4 HGNC HGNC:2206 protein_coding YES CCDS42828.1 ENSP00000379866 P53420 UPI000013D987 NM_000092.4 12/47 LOW 1 insertion 5 1 PASS TTA . . 0.003454 0.0016 0.003905 0.002379 0.002427 0.01282 0.001969 0.004213 0.003733 227104055 MLPH . GRCh38 chr2 237540388 237540388 + Missense_Mutation SNP A A G novel 7316-3022 BS_0KKH9VKP A A c.1145A>G p.Glu382Gly p.E382G ENST00000264605 10/16 76 59 15 37 36 0 MLPH,missense_variant,p.Glu382Gly,ENST00000264605,NM_024101.6;MLPH,missense_variant,p.Glu354Gly,ENST00000338530,NM_001042467.2;MLPH,missense_variant,p.Glu239Gly,ENST00000410032,NM_001281474.1;MLPH,missense_variant,p.Glu314Gly,ENST00000409373,NM_001281473.1;MLPH,missense_variant,p.Glu142Gly,ENST00000437893,;MLPH,missense_variant,p.Glu70Gly,ENST00000415753,;MLPH,missense_variant,p.Glu103Gly,ENST00000436965,;MLPH,upstream_gene_variant,,ENST00000434770,;MLPH,non_coding_transcript_exon_variant,,ENST00000468178,;MLPH,downstream_gene_variant,,ENST00000485956,;MLPH,non_coding_transcript_exon_variant,,ENST00000495439,;MLPH,non_coding_transcript_exon_variant,,ENST00000464123,;MLPH,non_coding_transcript_exon_variant,,ENST00000478712,;MLPH,non_coding_transcript_exon_variant,,ENST00000494110,;MLPH,upstream_gene_variant,,ENST00000432475,; G ENSG00000115648 ENST00000264605 Transcript missense_variant 1439/3823 1145/1803 382/600 E/G gAg/gGg 1 1 MLPH HGNC HGNC:29643 protein_coding YES CCDS2518.1 ENSP00000264605 Q9BV36 A0A024R492 UPI00000730BF NM_024101.6 deleterious(0) probably_damaging(0.992) 10/16 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14555,hmmpanther:PTHR14555:SF1,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GAG . . 237540388 GRIP2 . GRCh38 chr3 14540267 14540267 + Splice_Site SNP A A C rs746394100 7316-3022 BS_0KKH9VKP A A c.331+2T>G p.X111_splice ENST00000619221 75 60 8 25 25 0 GRIP2,splice_donor_variant,,ENST00000619221,;GRIP2,splice_donor_variant,,ENST00000621039,NM_001080423.3;GRIP2,intron_variant,,ENST00000637182,;GRIP2,intron_variant,,ENST00000637939,;GRIP2,splice_donor_variant,,ENST00000413414,; C ENSG00000144596 ENST00000619221 Transcript splice_donor_variant rs746394100 1 -1 GRIP2 HGNC HGNC:23841 protein_coding YES ENSP00000480660 A0A087WX15 UPI0001DD380B 2/24 HIGH 1 SNV 5 PASS TAC . . 0.005661 0.00554 0.002598 0.001166 0.00451 0.01821 0.006157 0.004339 0.001773 14540267 LINC01811 . GRCh38 chr3 34409354 34409367 + Splice_Region DEL GTGAATGAGTGAGT GTGAATGAGTGAGT - novel 7316-3022 BS_0KKH9VKP GTGAATGAGTGAGT GTGAATGAGTGAGT n.570+6_570+19del ENST00000424786 96 83 13 41 41 0 LINC01811,splice_region_variant,,ENST00000424786,; - ENSG00000226320 ENST00000424786 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 LINC01811 HGNC HGNC:52615 lincRNA YES 6/7 LOW 1 deletion 5 1 PASS GAGTGAATGAGTGAGTG . . 34409353 CCR5 . GRCh38 chr3 46373072 46373072 + Missense_Mutation SNP A A G rs1366408608 7316-3022 BS_0KKH9VKP A A c.170A>G p.Asn57Ser p.N57S ENST00000292303 2/2 73 67 6 33 33 0 CCR5,missense_variant,p.Asn57Ser,ENST00000292303,NM_000579.3,NM_001100168.1;CCR5,missense_variant,p.Asn57Ser,ENST00000445772,;AC098613.1,intron_variant,,ENST00000451485,;,regulatory_region_variant,,ENSR00000303869,; G ENSG00000160791 ENST00000292303 Transcript missense_variant 316/3450 170/1059 57/352 N/S aAc/aGc rs1366408608,COSM1559652 1 1 CCR5 HGNC HGNC:1606 protein_coding YES CCDS2739.1 ENSP00000292303 P51681 Q38L21 UPI000000D955 NM_000579.3,NM_001100168.1 tolerated(0.06) benign(0.009) 2/2 Gene3D:1.20.1070.10,PDB-ENSP_mappings:4mbs.A,PDB-ENSP_mappings:4mbs.B,PDB-ENSP_mappings:5uiw.A,Pfam_domain:PF00001,Prints_domain:PR00657,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF686,Superfamily_domains:SSF81321,cd15184 0,1 MODERATE 1 SNV 1 0,1 1 PASS AAC . . 46373072 DAG1 . GRCh38 chr3 49532312 49532312 + Frame_Shift_Del DEL G G - novel 7316-3022 BS_0KKH9VKP G G c.1804del p.Asp602IlefsTer19 p.D602Ifs*19 ENST00000545947 6/6 74 55 15 35 34 0 DAG1,frameshift_variant,p.Asp602IlefsTer19,ENST00000545947,NM_001177634.2;DAG1,frameshift_variant,p.Asp602IlefsTer19,ENST00000541308,NM_001177641.2,NM_001177638.2,NM_001165928.3;DAG1,frameshift_variant,p.Asp602IlefsTer19,ENST00000539901,NM_001177644.2;DAG1,frameshift_variant,p.Asp602IlefsTer19,ENST00000538711,NM_001177635.2,NM_001177640.2,NM_001177642.2;DAG1,frameshift_variant,p.Asp602IlefsTer19,ENST00000515359,NM_001177643.2;DAG1,frameshift_variant,p.Asp602IlefsTer19,ENST00000308775,NM_001177639.2,NM_004393.5,NM_001177636.2,NM_001177637.2;DAG1,downstream_gene_variant,,ENST00000421560,;DAG1,downstream_gene_variant,,ENST00000431960,;DAG1,downstream_gene_variant,,ENST00000461492,;DAG1,downstream_gene_variant,,ENST00000479935,; - ENSG00000173402 ENST00000545947 Transcript frameshift_variant 2523/5829 1801/2688 601/895 G/X Ggg/gg 1 1 DAG1 HGNC HGNC:2666 protein_coding YES CCDS2799.1 ENSP00000442600 Q14118 UPI000013EDAE NM_001177634.2 6/6 hmmpanther:PTHR21559,hmmpanther:PTHR21559:SF19,SMART_domains:SM00736,cd11303 HIGH 1 deletion 5 3 1 PASS AAGG . . 49532311 WNT5A . GRCh38 chr3 55470495 55470495 + Missense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.740G>T p.Cys247Phe p.C247F ENST00000264634 5/5 77 65 11 34 33 0 WNT5A,missense_variant,p.Cys247Phe,ENST00000264634,NM_003392.4;WNT5A,missense_variant,p.Cys247Phe,ENST00000474267,;WNT5A,missense_variant,p.Cys232Phe,ENST00000497027,NM_001256105.1;WNT5A,downstream_gene_variant,,ENST00000482079,;WNT5A,upstream_gene_variant,,ENST00000493406,; A ENSG00000114251 ENST00000264634 Transcript missense_variant 1397/6176 740/1143 247/380 C/F tGt/tTt 1 -1 WNT5A HGNC HGNC:12784 protein_coding YES CCDS46850.1 ENSP00000264634 P41221 UPI0000231C66 NM_003392.4 deleterious(0) probably_damaging(1) 5/5 hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF33,PROSITE_patterns:PS00246,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349 MODERATE 1 SNV 1 1 PASS ACA . . 55470495 CHST2 . GRCh38 chr3 143122270 143122270 + Missense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.1454C>A p.Thr485Asn p.T485N ENST00000309575 2/2 68 60 8 23 23 0 CHST2,missense_variant,p.Thr485Asn,ENST00000309575,NM_004267.4;AC018450.1,upstream_gene_variant,,ENST00000483262,; A ENSG00000175040 ENST00000309575 Transcript missense_variant 2838/4582 1454/1593 485/530 T/N aCc/aAc 1 1 CHST2 HGNC HGNC:1970 protein_coding YES CCDS3129.1 ENSP00000307911 Q9Y4C5 V9HVX9 UPI0000073CBC NM_004267.4 tolerated(0.45) benign(0.443) 2/2 Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF3,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS ACC . . 143122270 MUC4 . GRCh38 chr3 195781111 195781111 + Missense_Mutation SNP T T G rs757671347 7316-3022 BS_0KKH9VKP T T c.10469A>C p.His3490Pro p.H3490P ENST00000463781 2/25 112 80 21 23 20 0 MUC4,missense_variant,p.His3490Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His3490Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His3490Pro,ENST00000478156,;MUC4,missense_variant,p.His3490Pro,ENST00000466475,;MUC4,missense_variant,p.His3490Pro,ENST00000477756,;MUC4,missense_variant,p.His3490Pro,ENST00000477086,;MUC4,missense_variant,p.His3490Pro,ENST00000480843,;MUC4,missense_variant,p.His3490Pro,ENST00000462323,;MUC4,missense_variant,p.His3490Pro,ENST00000470451,;MUC4,missense_variant,p.His3490Pro,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 10929/17110 10469/16239 3490/5412 H/P cAt/cCt rs757671347,COSM224247 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.29) benign(0.234) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS ATG . . 0.0006005 0.005783 0.0009316 0.002524 0.0001949 0.0003975 0.00106 195781111 FAM193A . GRCh38 chr4 2700420 2700420 + Missense_Mutation SNP G G A novel 7316-3022 BS_0KKH9VKP G G c.3375G>A p.Met1125Ile p.M1125I ENST00000324666 17/20 78 59 17 29 28 0 FAM193A,missense_variant,p.Met1416Ile,ENST00000637812,;FAM193A,missense_variant,p.Met1125Ile,ENST00000324666,NM_001256666.1;FAM193A,missense_variant,p.Met1125Ile,ENST00000382839,NM_003704.3;FAM193A,missense_variant,p.Met1125Ile,ENST00000505311,NM_001256668.1;FAM193A,missense_variant,p.Met1147Ile,ENST00000502458,NM_001256667.1;FAM193A,missense_variant,p.Met1125Ile,ENST00000545951,;FAM193A,missense_variant,p.Met979Ile,ENST00000513350,;FAM193A,3_prime_UTR_variant,,ENST00000512465,;FAM193A,3_prime_UTR_variant,,ENST00000513898,;FAM193A,downstream_gene_variant,,ENST00000506120,; A ENSG00000125386 ENST00000324666 Transcript missense_variant 3726/4846 3375/3798 1125/1265 M/I atG/atA 1 1 FAM193A HGNC HGNC:16822 protein_coding YES CCDS58875.1 ENSP00000324587 P78312 UPI0000551BCA NM_001256666.1 tolerated(0.47) benign(0) 17/20 mobidb-lite,hmmpanther:PTHR15109,hmmpanther:PTHR15109:SF2 MODERATE 1 SNV 1 PASS TGG . . 2700420 LIAS . GRCh38 chr4 39465201 39465202 + Frame_Shift_Ins INS - - G novel 7316-3022 BS_0KKH9VKP - - c.550+1dup ENST00000640888 5/11 81 61 17 22 21 0 LIAS,frameshift_variant,,ENST00000640888,NM_006859.3;LIAS,frameshift_variant,,ENST00000381846,NM_001278590.1;LIAS,frameshift_variant,,ENST00000340169,NM_194451.2;LIAS,frameshift_variant,,ENST00000640672,;LIAS,intron_variant,,ENST00000261434,;LIAS,intron_variant,,ENST00000513731,;LIAS,intron_variant,,ENST00000638451,;LIAS,intron_variant,,ENST00000640349,;LIAS,downstream_gene_variant,,ENST00000424936,NM_001278591.1;LIAS,downstream_gene_variant,,ENST00000509519,NM_001278592.1;LIAS,splice_region_variant,,ENST00000515061,;LIAS,frameshift_variant,,ENST00000638422,;LIAS,splice_region_variant,,ENST00000640381,;LIAS,splice_region_variant,,ENST00000640689,;LIAS,splice_region_variant,,ENST00000638837,;LIAS,splice_region_variant,,ENST00000638430,;LIAS,intron_variant,,ENST00000638816,;LIAS,intron_variant,,ENST00000639422,;LIAS,upstream_gene_variant,,ENST00000639475,;LIAS,downstream_gene_variant,,ENST00000640489,;LIAS,upstream_gene_variant,,ENST00000640816,;,regulatory_region_variant,,ENSR00000167618,; G ENSG00000121897 ENST00000640888 Transcript frameshift_variant,splice_region_variant 1080-1081/4041 549-550/1119 183-184/372 -/X -/G 1 1 LIAS HGNC HGNC:16429 protein_coding YES CCDS3453.1 ENSP00000492260 O43766 A0A024R9W0 UPI000004EE9F NM_006859.3 5/11 Gene3D:3.20.20.70,HAMAP:MF_00206,Pfam_domain:PF04055,PIRSF_domain:PIRSF005963,hmmpanther:PTHR10949,hmmpanther:PTHR10949:SF0,SFLDF00271,SFLDG01058,SFLDS00029,SMART_domains:SM00729,Superfamily_domains:SSF102114,TIGRFAM_domain:TIGR00510,cd01335 HIGH 1 insertion 1 2 1 PASS ATG . . 39465201 ATP8A1 . GRCh38 chr4 42455377 42455377 + Missense_Mutation SNP T T C novel 7316-3022 BS_0KKH9VKP T T c.2737A>G p.Arg913Gly p.R913G ENST00000381668 29/37 96 78 18 35 35 0 ATP8A1,missense_variant,p.Arg913Gly,ENST00000381668,NM_006095.2;ATP8A1,missense_variant,p.Arg898Gly,ENST00000264449,NM_001105529.1;ATP8A1,3_prime_UTR_variant,,ENST00000514372,;ATP8A1,3_prime_UTR_variant,,ENST00000506602,;ATP8A1,downstream_gene_variant,,ENST00000515872,; C ENSG00000124406 ENST00000381668 Transcript missense_variant 2969/8270 2737/3495 913/1164 R/G Aga/Gga 1 -1 ATP8A1 HGNC HGNC:13531 protein_coding YES CCDS3466.1 ENSP00000371084 Q9Y2Q0 UPI0000125063 NM_006095.2 deleterious(0) possibly_damaging(0.843) 29/37 cd02073,hmmpanther:PTHR24092:SF66,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF16212,Superfamily_domains:SSF81665 MODERATE 1 SNV 1 PASS CTC . . 42455377 ATP10D . GRCh38 chr4 47568993 47568993 + Missense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.3010C>A p.Leu1004Met p.L1004M ENST00000273859 16/23 83 62 20 21 21 0 ATP10D,missense_variant,p.Leu1004Met,ENST00000273859,NM_020453.3;ATP10D,3_prime_UTR_variant,,ENST00000503288,; A ENSG00000145246 ENST00000273859 Transcript missense_variant 3279/6655 3010/4281 1004/1426 L/M Ctg/Atg 1 1 ATP10D HGNC HGNC:13549 protein_coding YES CCDS3476.1 ENSP00000273859 Q9P241 UPI00001AE9B7 NM_020453.3 deleterious(0) probably_damaging(0.996) 16/23 SFLDF00027,SFLDG00002,cd02073,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF84,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF56784 MODERATE 1 SNV 1 PASS CCT . . 47568993 HCN1 . GRCh38 chr5 45262424 45262424 + Missense_Mutation SNP C C A 7316-3022 BS_0KKH9VKP C C c.2170G>T p.Ala724Ser p.A724S ENST00000303230 8/8 53 37 13 32 31 0 HCN1,missense_variant,p.Ala724Ser,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,; A ENSG00000164588 ENST00000303230 Transcript missense_variant 2411/9885 2170/2673 724/890 A/S Gcc/Tcc COSM1543895 1 -1 HCN1 HGNC HGNC:4845 protein_coding YES CCDS3952.1 ENSP00000307342 O60741 UPI00001AED69 NM_021072.3 tolerated_low_confidence(0.17) benign(0.067) 8/8 PDB-ENSP_mappings:5u6o.A,PDB-ENSP_mappings:5u6o.B,PDB-ENSP_mappings:5u6o.C,PDB-ENSP_mappings:5u6o.D,PDB-ENSP_mappings:5u6p.A,PDB-ENSP_mappings:5u6p.B,PDB-ENSP_mappings:5u6p.C,PDB-ENSP_mappings:5u6p.D,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373 1 MODERATE 1 SNV 1 1 1 PASS GCG . . 45262424 ARHGEF28 . GRCh38 chr5 73780736 73780736 + Missense_Mutation SNP A A C novel 7316-3022 BS_0KKH9VKP A A c.901A>C p.Thr301Pro p.T301P ENST00000545377 7/37 70 42 25 27 27 0 ARHGEF28,missense_variant,p.Thr301Pro,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Thr301Pro,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Thr301Pro,ENST00000426542,;ARHGEF28,missense_variant,p.Thr301Pro,ENST00000437974,;ARHGEF28,missense_variant,p.Thr301Pro,ENST00000296794,;AC091868.2,intron_variant,,ENST00000506717,; C ENSG00000214944 ENST00000545377 Transcript missense_variant 1077/6351 901/5196 301/1731 T/P Act/Cct 1 1 ARHGEF28 HGNC HGNC:30322 protein_coding YES CCDS47231.2 ENSP00000441913 Q8N1W1 UPI00004DF58E NM_001080479.2 tolerated(0.07) benign(0.368) 7/37 Gene3D:1.25.40.20,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133,mobidb-lite MODERATE SNV 5 PASS AAC . . 73780736 ARHGEF28 . GRCh38 chr5 73780741 73780741 + Missense_Mutation SNP A A T 7316-3022 BS_0KKH9VKP A A c.906A>T p.Glu302Asp p.E302D ENST00000545377 7/37 70 43 23 28 28 0 ARHGEF28,missense_variant,p.Glu302Asp,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Glu302Asp,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Glu302Asp,ENST00000426542,;ARHGEF28,missense_variant,p.Glu302Asp,ENST00000437974,;ARHGEF28,missense_variant,p.Glu302Asp,ENST00000296794,;AC091868.2,intron_variant,,ENST00000506717,; T ENSG00000214944 ENST00000545377 Transcript missense_variant 1082/6351 906/5196 302/1731 E/D gaA/gaT COSM5073168,COSM5073167 1 1 ARHGEF28 HGNC HGNC:30322 protein_coding YES CCDS47231.2 ENSP00000441913 Q8N1W1 UPI00004DF58E NM_001080479.2 tolerated(0.39) benign(0.01) 7/37 Gene3D:1.25.40.20,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133,mobidb-lite 1,1 MODERATE SNV 5 1,1 PASS AAG . . 73780741 TENM2 . GRCh38 chr5 168204606 168204613 + Frame_Shift_Del DEL GCATCTTG GCATCTTG - novel 7316-3022 BS_0KKH9VKP GCATCTTG GCATCTTG c.3114_3121del p.Ser1038ArgfsTer61 p.S1038Rfs*61 ENST00000520394 16/25 79 60 19 27 27 0 TENM2,frameshift_variant,p.Ser1149ArgfsTer5,ENST00000519204,;TENM2,frameshift_variant,p.Ser1270ArgfsTer5,ENST00000518659,NM_001122679.1;TENM2,frameshift_variant,p.Ser1038ArgfsTer61,ENST00000520394,NM_001080428.2; - ENSG00000145934 ENST00000520394 Transcript frameshift_variant 3164-3171/8034 3113-3120/7608 1038-1040/2535 SIL/X aGCATCTTG/a 1 1 TENM2 HGNC HGNC:29943 protein_coding YES CCDS83040.1 ENSP00000427874 F8VNQ3 UPI00006C0983 NM_001080428.2 16/25 Gene3D:2.120.10.30,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF64,Superfamily_domains:SSF101898 HIGH 1 deletion 1 1 PASS CAGCATCTTGG . . 168204605 WWC1 . GRCh38 chr5 168397807 168397807 + Splice_Region SNP C C G novel 7316-3022 BS_0KKH9VKP C C c.510+7C>G ENST00000521089 71 57 13 29 29 0 WWC1,splice_region_variant,,ENST00000265293,NM_015238.2;WWC1,splice_region_variant,,ENST00000393895,;WWC1,splice_region_variant,,ENST00000521089,NM_001161661.1,NM_001161662.1;WWC1,splice_region_variant,,ENST00000523043,;WWC1,downstream_gene_variant,,ENST00000519859,; G ENSG00000113645 ENST00000521089 Transcript splice_region_variant,intron_variant 1 1 WWC1 HGNC HGNC:29435 protein_coding YES CCDS54945.1 ENSP00000427772 Q8IX03 UPI00017A7149 NM_001161661.1,NM_001161662.1 4/22 LOW 1 SNV 2 1 PASS ACC . . 168397807 FGFR4 . GRCh38 chr5 177095336 177095336 + Missense_Mutation SNP C C T novel 7316-3022 BS_0KKH9VKP C C c.1526C>T p.Ala509Val p.A509V ENST00000292408 12/18 89 70 18 37 36 0 FGFR4,missense_variant,p.Ala509Val,ENST00000292408,NM_213647.2,NM_002011.4,NM_001354984.1;FGFR4,missense_variant,p.Ala441Val,ENST00000393648,NM_001291980.1;FGFR4,missense_variant,p.Ala509Val,ENST00000502906,;FGFR4,missense_variant,p.Ala469Val,ENST00000393637,NM_022963.3;FGFR4,missense_variant,p.Ala141Val,ENST00000511076,;FGFR4,downstream_gene_variant,,ENST00000503708,;FGFR4,downstream_gene_variant,,ENST00000510911,;FGFR4,downstream_gene_variant,,ENST00000513166,;FGFR4,downstream_gene_variant,,ENST00000514472,;FGFR4,downstream_gene_variant,,ENST00000507708,;FGFR4,non_coding_transcript_exon_variant,,ENST00000483872,;FGFR4,downstream_gene_variant,,ENST00000426612,;FGFR4,downstream_gene_variant,,ENST00000430285,;FGFR4,downstream_gene_variant,,ENST00000508139,;FGFR4,downstream_gene_variant,,ENST00000509511,;FGFR4,upstream_gene_variant,,ENST00000513423,; T ENSG00000160867 ENST00000292408 Transcript missense_variant 1771/3122 1526/2409 509/802 A/V gCc/gTc 1 1 FGFR4 HGNC HGNC:3691 protein_coding YES CCDS4410.1 ENSP00000292408 P22455 UPI000012A72D NM_213647.2,NM_002011.4,NM_001354984.1 deleterious(0) probably_damaging(0.925) 12/18 Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF343,SMART_domains:SM00219,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 1 PASS GCC . . 177095336 MUC21 . GRCh38 chr6 30988142 30988142 + Missense_Mutation SNP G G A novel 7316-3022 BS_0KKH9VKP G G c.1649G>A p.Arg550Lys p.R550K ENST00000376296 3/3 75 66 8 27 27 0 MUC21,missense_variant,p.Arg550Lys,ENST00000376296,NM_001010909.3;MUC21,missense_variant,p.Arg96Lys,ENST00000486149,; A ENSG00000204544 ENST00000376296 Transcript missense_variant 1890/3651 1649/1701 550/566 R/K aGa/aAa 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 tolerated(0.2) possibly_damaging(0.61) 3/3 hmmpanther:PTHR39408,Pfam_domain:PF14654 MODERATE 1 SNV 1 PASS AGA . . 30988142 DNAH8 . GRCh38 chr6 38911475 38911475 + Nonsense_Mutation SNP C C T rs747123680 7316-3022 BS_0KKH9VKP C C c.9748C>T p.Arg3250Ter p.R3250* ENST00000327475 66/93 73 66 7 20 19 0 DNAH8,stop_gained,p.Arg3250Ter,ENST00000327475,NM_001206927.1;DNAH8,stop_gained,p.Arg3033Ter,ENST00000359357,;DNAH8,stop_gained,p.Arg3250Ter,ENST00000449981,; T ENSG00000124721 ENST00000327475 Transcript stop_gained 9857/14360 9748/14124 3250/4707 R/* Cga/Tga rs747123680 1 1 DNAH8 HGNC HGNC:2952 protein_coding YES CCDS75447.1 ENSP00000333363 A0A075B6F3 UPI000179A984 NM_001206927.1 66/93 hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF12780,Gene3D:1.20.1170.10,Superfamily_domains:SSF52540 HIGH 1 SNV 5 PASS CCG . . 1.22e-05 5.804e-05 8.972e-06 3.252e-05 38911475 TDRD6 . GRCh38 chr6 46693933 46693933 + Missense_Mutation SNP G G T novel 7316-3022 BS_0KKH9VKP G G c.5805G>T p.Met1935Ile p.M1935I ENST00000316081 1/4 80 61 19 21 21 0 TDRD6,missense_variant,p.Met1935Ile,ENST00000544460,NM_001168359.1;TDRD6,missense_variant,p.Met1935Ile,ENST00000316081,NM_001010870.2;TDRD6,upstream_gene_variant,,ENST00000450697,; T ENSG00000180113 ENST00000316081 Transcript missense_variant 5805/6817 5805/6291 1935/2096 M/I atG/atT 1 1 TDRD6 HGNC HGNC:21339 protein_coding YES CCDS34470.1 ENSP00000346065 O60522 UPI0000251E8A NM_001010870.2 tolerated(0.3) benign(0.01) 1/4 MODERATE 1 SNV 1 PASS TGT . . 46693933 COL19A1 . GRCh38 chr6 70207266 70207266 + Missense_Mutation SNP G G A novel 7316-3022 BS_0KKH9VKP G G c.3421G>A p.Gly1141Arg p.G1141R ENST00000620364 51/51 64 39 23 34 33 0 COL19A1,missense_variant,p.Gly1141Arg,ENST00000620364,NM_001858.5; A ENSG00000082293 ENST00000620364 Transcript missense_variant 3523/6233 3421/3429 1141/1142 G/R Ggg/Agg 1 1 COL19A1 HGNC HGNC:2196 protein_coding YES CCDS4970.1 ENSP00000480474 Q14993 UPI000004F1E3 NM_001858.5 deleterious_low_confidence(0) benign(0.065) 51/51 hmmpanther:PTHR45056,mobidb-lite MODERATE 1 SNV 1 PASS TGG . . 70207266 RARS2 . GRCh38 chr6 87555484 87555484 + Nonsense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.319G>T p.Glu107Ter p.E107* ENST00000369536 5/20 74 37 36 21 20 0 RARS2,stop_gained,p.Glu107Ter,ENST00000369536,NM_001318785.1,NM_020320.4;RARS2,stop_gained,p.Glu135Ter,ENST00000451155,; A ENSG00000146282 ENST00000369536 Transcript stop_gained 365/1818 319/1737 107/578 E/* Gaa/Taa 1 -1 RARS2 HGNC HGNC:21406 protein_coding YES CCDS5011.1 ENSP00000358549 Q5T160 UPI000020D2E6 NM_001318785.1,NM_020320.4 5/20 Gene3D:3.30.1360.70,hmmpanther:PTHR11956,hmmpanther:PTHR11956:SF1,Superfamily_domains:SSF55190,TIGRFAM_domain:TIGR00456 HIGH 1 SNV 1 1 PASS TCA . . 87555484 RSPH3 . GRCh38 chr6 158982498 158982499 + Frame_Shift_Ins INS - - G rs1436616680 7316-3022 BS_0KKH9VKP - - c.1108dup p.His370ProfsTer9 p.H370Pfs*9 ENST00000252655 5/8 77 55 12 33 33 0 RSPH3,frameshift_variant,p.His228ProfsTer9,ENST00000367069,;RSPH3,frameshift_variant,p.His370ProfsTer9,ENST00000252655,NM_031924.4;RSPH3,frameshift_variant,p.His132ProfsTer9,ENST00000449822,; G ENSG00000130363 ENST00000252655 Transcript frameshift_variant 1298-1299/2175 1108-1109/1683 370/560 H/PX cac/cCac rs1436616680 1 -1 RSPH3 HGNC HGNC:21054 protein_coding YES CCDS5260.1 ENSP00000252655 Q86UC2 UPI000013CD78 NM_031924.4 5/8 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06098,hmmpanther:PTHR21648,mobidb-lite,Low_complexity_(Seg):seg HIGH 1 insertion 1 1 PASS GTG . . 158982498 RSPH3 . GRCh38 chr6 158982504 158982505 + Frame_Shift_Ins INS - - G rs1334342970 7316-3022 BS_0KKH9VKP - - c.1102_1103insC p.Arg368ThrfsTer11 p.R368Tfs*11 ENST00000252655 5/8 77 59 12 32 31 0 RSPH3,frameshift_variant,p.Arg226ThrfsTer11,ENST00000367069,;RSPH3,frameshift_variant,p.Arg368ThrfsTer11,ENST00000252655,NM_031924.4;RSPH3,frameshift_variant,p.Arg130ThrfsTer11,ENST00000449822,; G ENSG00000130363 ENST00000252655 Transcript frameshift_variant 1292-1293/2175 1102-1103/1683 368/560 R/TX agg/aCgg rs1334342970 1 -1 RSPH3 HGNC HGNC:21054 protein_coding YES CCDS5260.1 ENSP00000252655 Q86UC2 UPI000013CD78 NM_031924.4 5/8 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06098,hmmpanther:PTHR21648,mobidb-lite,Low_complexity_(Seg):seg HIGH 1 insertion 1 1 PASS CCT . . 4.097e-06 9.013e-06 158982504 RSPH3 . GRCh38 chr6 158982509 158982510 + Frame_Shift_Del DEL TT TT - novel 7316-3022 BS_0KKH9VKP TT TT c.1097_1098del p.Gln366ArgfsTer12 p.Q366Rfs*12 ENST00000252655 5/8 76 61 12 27 27 0 RSPH3,frameshift_variant,p.Gln224ArgfsTer12,ENST00000367069,;RSPH3,frameshift_variant,p.Gln366ArgfsTer12,ENST00000252655,NM_031924.4;RSPH3,frameshift_variant,p.Gln128ArgfsTer12,ENST00000449822,; - ENSG00000130363 ENST00000252655 Transcript frameshift_variant 1287-1288/2175 1097-1098/1683 366/560 Q/X cAA/c 1 -1 RSPH3 HGNC HGNC:21054 protein_coding YES CCDS5260.1 ENSP00000252655 Q86UC2 UPI000013CD78 NM_031924.4 5/8 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06098,hmmpanther:PTHR21648,mobidb-lite,Low_complexity_(Seg):seg HIGH 1 deletion 1 1 PASS TCTTG . . 158982508 MALSU1 . GRCh38 chr7 23299512 23299512 + Missense_Mutation SNP A A T novel 7316-3022 BS_0KKH9VKP A A c.160A>T p.Thr54Ser p.T54S ENST00000466681 1/4 90 71 16 37 37 0 MALSU1,missense_variant,p.Thr54Ser,ENST00000466681,NM_138446.1;MALSU1,intron_variant,,ENST00000479974,;MALSU1,non_coding_transcript_exon_variant,,ENST00000481564,;MALSU1,non_coding_transcript_exon_variant,,ENST00000287543,;,regulatory_region_variant,,ENSR00000209491,; T ENSG00000156928 ENST00000466681 Transcript missense_variant 313/3044 160/705 54/234 T/S Acc/Tcc 1 1 MALSU1 HGNC HGNC:21721 protein_coding YES CCDS5381.1 ENSP00000419370 Q96EH3 UPI000007180F NM_138446.1 tolerated(0.74) benign(0.007) 1/4 PDB-ENSP_mappings:5ool.u,PDB-ENSP_mappings:5oom.u MODERATE 1 SNV 1 PASS GAC . . 23299512 FKBP14 . GRCh38 chr7 30014811 30014811 + Missense_Mutation SNP A A G novel 7316-3022 BS_0KKH9VKP A A c.560T>C p.Ile187Thr p.I187T ENST00000222803 4/4 77 66 10 38 38 0 FKBP14,missense_variant,p.Ile187Thr,ENST00000222803,NM_017946.3;AC007285.1,intron_variant,,ENST00000419103,;AC007285.1,intron_variant,,ENST00000422239,;FKBP14,3_prime_UTR_variant,,ENST00000419018,;FKBP14,3_prime_UTR_variant,,ENST00000412494,; G ENSG00000106080 ENST00000222803 Transcript missense_variant 736/4960 560/636 187/211 I/T aTt/aCt 1 -1 FKBP14 HGNC HGNC:18625 protein_coding YES CCDS5423.1 ENSP00000222803 Q9NWM8 A0A090N7V8 UPI0000035974 NM_017946.3 deleterious(0) probably_damaging(0.997) 4/4 Gene3D:1.10.238.10,PDB-ENSP_mappings:4msp.A,PDB-ENSP_mappings:4msp.B,Pfam_domain:PF13499,PROSITE_profiles:PS50222,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF22,Superfamily_domains:SSF47473,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAT . . 30014811 FZD9 . GRCh38 chr7 73434816 73434827 + In_Frame_Del DEL TCTCCATGTGCT TCTCCATGTGCT - novel 7316-3022 BS_0KKH9VKP TCTCCATGTGCT TCTCCATGTGCT c.809_820del p.Leu270_Tyr274delinsHis p.L270_Y274delinsH ENST00000344575 1/1 96 79 17 31 30 0 FZD9,inframe_deletion,p.Leu270_Tyr274delinsHis,ENST00000344575,NM_003508.2;,regulatory_region_variant,,ENSR00000326727,; - ENSG00000188763 ENST00000344575 Transcript inframe_deletion 1034-1045/2338 809-820/1776 270-274/591 LSMCY/H cTCTCCATGTGCTac/cac 1 1 FZD9 HGNC HGNC:4047 protein_coding YES CCDS5548.1 ENSP00000345785 O00144 UPI000004EC98 NM_003508.2 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,cd15036,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,Pfam_domain:PF01534,Gene3D:1.20.1070.10,SMART_domains:SM01330,Prints_domain:PR00489 MODERATE 1 deletion PASS CCTCTCCATGTGCTA . . 73434815 BAZ1B . GRCh38 chr7 73492872 73492873 + Frame_Shift_Del DEL TT TT - novel 7316-3022 BS_0KKH9VKP TT TT c.620_621del p.Lys207ArgfsTer16 p.K207Rfs*16 ENST00000339594 5/20 98 82 11 25 23 0 BAZ1B,frameshift_variant,p.Lys207ArgfsTer16,ENST00000339594,NM_032408.3;BAZ1B,frameshift_variant,p.Lys207ArgfsTer16,ENST00000404251,; - ENSG00000009954 ENST00000339594 Transcript frameshift_variant 959-960/6102 620-621/4452 207/1483 K/X aAA/a 1 -1 BAZ1B HGNC HGNC:961 protein_coding YES CCDS5549.1 ENSP00000342434 Q9UIG0 UPI0000126731 NM_032408.3 5/20 mobidb-lite,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF200 HIGH 1 deletion 1 1 PASS CCTTT . . 73492871 SPAM1 . GRCh38 chr7 123953809 123953809 + Missense_Mutation SNP G G A rs1262667071 7316-3022 BS_0KKH9VKP G G c.239G>A p.Arg80Gln p.R80Q ENST00000340011 3/7 48 25 21 42 42 0 SPAM1,missense_variant,p.Arg80Gln,ENST00000340011,NM_003117.4;SPAM1,missense_variant,p.Arg80Gln,ENST00000439500,NM_001174045.1,NM_001174046.1;SPAM1,missense_variant,p.Arg80Gln,ENST00000460182,NM_001174044.1,NM_153189.2;SPAM1,missense_variant,p.Arg80Gln,ENST00000223028,;SPAM1,missense_variant,p.Arg80Gln,ENST00000402183,;SPAM1,missense_variant,p.Arg80Gln,ENST00000413927,; A ENSG00000106304 ENST00000340011 Transcript missense_variant 596/2349 239/1536 80/511 R/Q cGa/cAa rs1262667071,COSM3831771,COSM3831770 1 1 SPAM1 HGNC HGNC:11217 protein_coding YES CCDS5790.1 ENSP00000345849 P38567 UPI0000072166 NM_003117.4 tolerated(0.49) benign(0.073) 3/7 hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF20,PIRSF_domain:PIRSF038193,Gene3D:3.20.20.70,PIRSF_domain:PIRSF500773,Pfam_domain:PF01630,Superfamily_domains:SSF51445,Prints_domain:PR00848 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGA . . 4.095e-06 5.811e-05 123953809 CCDC136 . GRCh38 chr7 128815880 128815894 + In_Frame_Del DEL CCTTGAAAGTCCCGA CCTTGAAAGTCCCGA - novel 7316-3022 BS_0KKH9VKP CCTTGAAAGTCCCGA CCTTGAAAGTCCCGA c.3312_3326del p.Leu1105_Glu1109del p.L1105_E1109del ENST00000297788 16/18 69 60 9 36 36 0 CCDC136,inframe_deletion,p.Leu1105_Glu1109del,ENST00000297788,NM_022742.4;CCDC136,inframe_deletion,p.Leu982_Glu986del,ENST00000494552,;CCDC136,intron_variant,,ENST00000378685,NM_001201372.1;CCDC136,intron_variant,,ENST00000464672,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,non_coding_transcript_exon_variant,,ENST00000471729,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,intron_variant,,ENST00000528772,; - ENSG00000128596 ENST00000297788 Transcript inframe_deletion 3679-3693/4169 3312-3326/3465 1104-1109/1154 SLESPE/S tcCCTTGAAAGTCCCGAa/tca 1 1 CCDC136 HGNC HGNC:22225 protein_coding YES CCDS47704.1 ENSP00000297788 Q96JN2 UPI0000E445DE NM_022742.4 16/18 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 deletion 1 PASS TCCCTTGAAAGTCCCGAA . . 128815879 TRBV5-5 . GRCh38 chr7 142482822 142482822 + Missense_Mutation SNP A A C rs541363853 7316-3022 BS_0KKH9VKP A A c.146A>C p.Lys49Thr p.K49T ENST00000390372 2/2 88 75 12 26 26 0 TRBV5-5,missense_variant,p.Lys49Thr,ENST00000390372,;,regulatory_region_variant,,ENSR00000219254,; C ENSG00000211725 ENST00000390372 Transcript missense_variant 153/350 146/343 49/114 K/T aAg/aCg rs541363853 1 1 TRBV5-5 HGNC HGNC:12222 TR_V_gene YES ENSP00000374895 A0A597 UPI00001140E8 tolerated(0.82) benign(0) 2/2 0.001 MODERATE 1 SNV PASS AAG . . 142482822 TRBV5-5 . GRCh38 chr7 142482823 142482823 + Missense_Mutation SNP G G C rs573114484 7316-3022 BS_0KKH9VKP G G c.147G>C p.Lys49Asn p.K49N ENST00000390372 2/2 90 77 12 26 26 0 TRBV5-5,missense_variant,p.Lys49Asn,ENST00000390372,;,regulatory_region_variant,,ENSR00000219254,; C ENSG00000211725 ENST00000390372 Transcript missense_variant 154/350 147/343 49/114 K/N aaG/aaC rs573114484 1 1 TRBV5-5 HGNC HGNC:12222 TR_V_gene YES ENSP00000374895 A0A597 UPI00001140E8 tolerated(0.71) benign(0) 2/2 0.9998 0.001 MODERATE 1 SNV PASS AGA . . 142482823 TRBV5-5 . GRCh38 chr7 142482846 142482846 + Missense_Mutation SNP T T C rs199978351 7316-3022 BS_0KKH9VKP T T c.170T>C p.Val57Ala p.V57A ENST00000390372 2/2 79 67 9 31 31 0 TRBV5-5,missense_variant,p.Val57Ala,ENST00000390372,;,regulatory_region_variant,,ENSR00000219254,; C ENSG00000211725 ENST00000390372 Transcript missense_variant 177/350 170/343 57/114 V/A gTc/gCc rs199978351 1 1 TRBV5-5 HGNC HGNC:12222 TR_V_gene YES ENSP00000374895 A0A597 UPI00001140E8 tolerated(1) benign(0) 2/2 0.001 MODERATE 1 SNV PASS GTC . . 142482846 PRSS2 . GRCh38 chr7 142772052 142772052 + Missense_Mutation SNP C C G rs200484890 7316-3022 BS_0KKH9VKP C C c.44C>G p.Ala15Gly p.A15G ENST00000633969 2/6 80 62 13 30 29 0 PRSS2,missense_variant,p.Ala15Gly,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ala15Gly,ENST00000632998,;PRSS2,missense_variant,p.Ala15Gly,ENST00000632805,;PRSS2,missense_variant,p.Ala15Gly,ENST00000539842,NM_002770.3;PRSS2,upstream_gene_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,; G ENSG00000275896 ENST00000633969 Transcript missense_variant 60/852 44/786 15/261 A/G gCt/gGt rs200484890 1 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9 UPI0001578AE2 NM_001303414.1 deleterious(0) benign(0.417) 2/6 hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,Superfamily_domains:SSF50494,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GCT . . 142772052 PRSS2 . GRCh38 chr7 142772057 142772057 + Missense_Mutation SNP C C T rs369591097 7316-3022 BS_0KKH9VKP C C c.49C>T p.Pro17Ser p.P17S ENST00000633969 2/6 81 65 13 31 30 0 PRSS2,missense_variant,p.Pro17Ser,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Pro17Ser,ENST00000632998,;PRSS2,missense_variant,p.Pro17Ser,ENST00000632805,;PRSS2,missense_variant,p.Pro17Ser,ENST00000539842,NM_002770.3;PRSS2,upstream_gene_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,; T ENSG00000275896 ENST00000633969 Transcript missense_variant 65/852 49/786 17/261 P/S Ccc/Tcc rs369591097 1 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9 UPI0001578AE2 NM_001303414.1 tolerated(0.09) benign(0.019) 2/6 hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,Superfamily_domains:SSF50494,Low_complexity_(Seg):seg 0.0008 0.003 MODERATE 1 SNV 1 1 PASS CCC . . 142772057 TRBJ2-4 . GRCh38 chr7 142797000 142797000 + Missense_Mutation SNP C C G novel 7316-3022 BS_0KKH9VKP C C c.3C>G p.Ala2Gly p.A2G ENST00000390416 1/1 97 83 12 20 19 0 TRBJ2-4,missense_variant,p.Ala2Gly,ENST00000390416,;TRBJ2-1,downstream_gene_variant,,ENST00000390412,;TRBJ2-2,downstream_gene_variant,,ENST00000390413,;TRBJ2-2P,downstream_gene_variant,,ENST00000390414,;TRBJ2-3,downstream_gene_variant,,ENST00000390415,;TRBJ2-5,upstream_gene_variant,,ENST00000390417,;TRBJ2-6,upstream_gene_variant,,ENST00000390418,;TRBJ2-7,upstream_gene_variant,,ENST00000390419,;TRBC2,upstream_gene_variant,,ENST00000466254,;TRBC1,downstream_gene_variant,,ENST00000633705,;,regulatory_region_variant,,ENSR00000219306,; G ENSG00000211768 ENST00000390416 Transcript missense_variant 3/50 5/52 2/17 A/G gCc/gGc 1 1 TRBJ2-4 HGNC HGNC:12172 TR_J_gene YES ENSP00000418890 A0A0A0MT87 UPI0001B79296 unknown(0) 1/1 MODERATE 1 SNV PASS GCC . . 142797000 MFHAS1 . GRCh38 chr8 8892553 8892553 + Missense_Mutation SNP C C A 7316-3022 BS_0KKH9VKP C C c.506G>T p.Arg169Leu p.R169L ENST00000276282 1/3 67 53 13 24 23 0 MFHAS1,missense_variant,p.Arg169Leu,ENST00000276282,NM_004225.2;RNU6-682P,upstream_gene_variant,,ENST00000363843,;,regulatory_region_variant,,ENSR00000220826,; A ENSG00000147324 ENST00000276282 Transcript missense_variant 1093/6414 506/3159 169/1052 R/L cGg/cTg COSM117110 1 -1 MFHAS1 HGNC HGNC:16982 protein_coding YES CCDS34844.1 ENSP00000276282 Q9Y4C4 UPI000013DAB6 NM_004225.2 tolerated(0.47) benign(0.009) 1/3 Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR44393,SMART_domains:SM00364,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058 1 MODERATE 1 SNV 1 1 PASS CCG . . 8892553 PXDNL . GRCh38 chr8 51339660 51339666 + Frame_Shift_Del DEL CGCTGCA CGCTGCA - novel 7316-3022 BS_0KKH9VKP CGCTGCA CGCTGCA c.4104_4110del p.Phe1368LeufsTer14 p.F1368Lfs*14 ENST00000356297 21/23 85 71 14 39 39 0 PXDNL,frameshift_variant,p.Phe1368LeufsTer14,ENST00000356297,NM_144651.4;PXDNL,frameshift_variant,p.Phe442LeufsTer14,ENST00000522933,;PXDNL,non_coding_transcript_exon_variant,,ENST00000519183,;PXDNL,intron_variant,,ENST00000522628,; - ENSG00000147485 ENST00000356297 Transcript frameshift_variant 4205-4211/4805 4104-4110/4392 1368-1370/1463 FAA/X ttTGCAGCG/tt 1 -1 PXDNL HGNC HGNC:26359 protein_coding YES CCDS47855.1 ENSP00000348645 A1KZ92 UPI0001AE6ED6 NM_144651.4 21/23 Gene3D:2.10.70.10,Coiled-coils_(Ncoils):Coil HIGH 1 deletion 1 PASS TCCGCTGCAA . . 51339659 SGK3 . GRCh38 chr8 66859420 66859437 + In_Frame_Del DEL GATGATATCAGAAACTTT GATGATATCAGAAACTTT - novel 7316-3022 BS_0KKH9VKP GATGATATCAGAAACTTT GATGATATCAGAAACTTT c.1332_1349del p.Asp445_Asp450del p.D445_D450del ENST00000396596 17/17 81 70 11 43 43 0 SGK3,inframe_deletion,p.Asp445_Asp450del,ENST00000396596,NM_013257.4;SGK3,inframe_deletion,p.Asp445_Asp450del,ENST00000345714,;SGK3,inframe_deletion,p.Asp445_Asp450del,ENST00000521198,NM_001033578.2;SGK3,inframe_deletion,p.Asp445_Asp450del,ENST00000522398,;SGK3,inframe_deletion,p.Asp445_Asp450del,ENST00000519289,NM_001204173.1;SGK3,inframe_deletion,p.Asp413_Asp418del,ENST00000520976,NM_170709.2; - ENSG00000104205 ENST00000396596 Transcript inframe_deletion 1590-1607/4190 1330-1347/1491 444-449/496 DDIRNF/- GATGATATCAGAAACTTT/- 1 1 SGK3 HGNC HGNC:10812 protein_coding YES CCDS6195.1 ENSP00000379842 Q96BR1 A0A024R807 UPI000013591F NM_013257.4 17/17 PROSITE_profiles:PS51285,cd05604,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF121,Pfam_domain:PF00433,SMART_domains:SM00133,Superfamily_domains:SSF56112 MODERATE 1 deletion 1 2 PASS CAGATGATATCAGAAACTTTG . . 66859419 PKHD1L1 . GRCh38 chr8 109526903 109526903 + Missense_Mutation SNP G G A novel 7316-3022 BS_0KKH9VKP G G c.12604G>A p.Ala4202Thr p.A4202T ENST00000378402 77/78 67 61 5 28 28 0 PKHD1L1,missense_variant,p.Ala4202Thr,ENST00000378402,NM_177531.4;PKHD1L1,missense_variant,p.Ala1130Thr,ENST00000526472,;PKHD1L1,non_coding_transcript_exon_variant,,ENST00000534623,; A ENSG00000205038 ENST00000378402 Transcript missense_variant 12708/13076 12604/12732 4202/4243 A/T Gca/Aca 1 1 PKHD1L1 HGNC HGNC:20313 protein_coding YES CCDS47911.1 ENSP00000367655 Q86WI1 UPI0000E5B020 NM_177531.4 deleterious_low_confidence(0.03) benign(0.051) 77/78 Low_complexity_(Seg):seg,hmmpanther:PTHR44854 MODERATE 1 SNV 1 PASS AGC . . 109526903 EPPK1 . GRCh38 chr8 143863768 143863769 + In_Frame_Ins INS - - GCA rs1399630904 7316-3022 BS_0KKH9VKP - - c.9485_9486insTGC p.Ala3164dup p.A3164dup ENST00000615648 2/2 39 28 11 9 9 0 EPPK1,inframe_insertion,p.Ala3164dup,ENST00000615648,NM_031308.3;EPPK1,inframe_insertion,p.Ala3139dup,ENST00000568225,; GCA ENSG00000261150 ENST00000615648 Transcript inframe_insertion 9557-9558/16002 9485-9486/15267 3162/5088 A/AA gcc/gcTGCc rs1399630904 1 -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107 UPI0002065B93 NM_031308.3 2/2 Gene3D:3.90.1290.10,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 insertion 5 PASS CGG . . 143863768 WNK2 . GRCh38 chr9 93259136 93259136 + Missense_Mutation SNP A A C rs1238936686 7316-3022 BS_0KKH9VKP A A c.2588A>C p.His863Pro p.H863P ENST00000297954 11/30 77 54 18 24 22 1 WNK2,missense_variant,p.His859Pro,ENST00000432730,;WNK2,missense_variant,p.His863Pro,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.His863Pro,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.His467Pro,ENST00000411624,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,downstream_gene_variant,,ENST00000448039,;WNK2,upstream_gene_variant,,ENST00000448251,;WNK2,non_coding_transcript_exon_variant,,ENST00000464625,;WNK2,upstream_gene_variant,,ENST00000478583,; C ENSG00000165238 ENST00000297954 Transcript missense_variant 2588/7138 2588/6894 863/2297 H/P cAc/cCc rs1238936686,COSM5764874,COSM5764875,COSM5764876,COSM5764877 1 1 WNK2 HGNC HGNC:14542 protein_coding YES CCDS75858.1 ENSP00000297954 Q9Y3S1 UPI0000236D76 NM_001282394.1 deleterious(0.04) possibly_damaging(0.806) 11/30 hmmpanther:PTHR13902:SF10,hmmpanther:PTHR13902 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 1 PASS CAC . . 93259136 BAAT . GRCh38 chr9 101362793 101362804 + In_Frame_Del DEL TGCGATAGAGCT TGCGATAGAGCT - novel 7316-3022 BS_0KKH9VKP TGCGATAGAGCT TGCGATAGAGCT c.881_892del p.Glu294_Thr298delinsAla p.E294_T298delinsA ENST00000259407 4/4 92 75 17 37 37 0 BAAT,inframe_deletion,p.Glu294_Thr298delinsAla,ENST00000259407,NM_001127610.1;BAAT,inframe_deletion,p.Glu294_Thr298delinsAla,ENST00000395051,NM_001701.3;,regulatory_region_variant,,ENSR00000238931,;AL359893.1,downstream_gene_variant,,ENST00000447628,; - ENSG00000136881 ENST00000259407 Transcript inframe_deletion 990-1001/3377 881-892/1257 294-298/418 ELYRT/A gAGCTCTATCGCAct/gct 1 -1 BAAT HGNC HGNC:932 protein_coding YES CCDS6752.1 ENSP00000259407 Q14032 UPI00000715D7 NM_001127610.1 4/4 Gene3D:3.40.50.1820,Pfam_domain:PF08840,PIRSF_domain:PIRSF016521,hmmpanther:PTHR10824,hmmpanther:PTHR10824:SF18,Superfamily_domains:SSF53474 MODERATE 1 deletion 1 1 PASS AGTGCGATAGAGCTC . . 101362792 KYAT1 . GRCh38 chr9 128838298 128838298 + Missense_Mutation SNP G G A rs755466968 7316-3022 BS_0KKH9VKP G G c.553C>T p.Leu185Phe p.L185F ENST00000436267 6/15 90 62 26 34 31 0 KYAT1,missense_variant,p.Leu185Phe,ENST00000436267,NM_001287390.1,NM_001352994.1,NM_001352996.1,NM_001352995.1;KYAT1,missense_variant,p.Leu91Phe,ENST00000302586,NM_001122671.1,NM_004059.4;KYAT1,missense_variant,p.Leu91Phe,ENST00000451800,;KYAT1,missense_variant,p.Leu91Phe,ENST00000416084,;KYAT1,missense_variant,p.Leu152Phe,ENST00000427720,;KYAT1,intron_variant,,ENST00000320665,NM_001122672.1;KYAT1,non_coding_transcript_exon_variant,,ENST00000462722,;KYAT1,non_coding_transcript_exon_variant,,ENST00000474824,;KYAT1,intron_variant,,ENST00000483599,;KYAT1,upstream_gene_variant,,ENST00000466418,;,regulatory_region_variant,,ENSR00000241911,; A ENSG00000171097 ENST00000436267 Transcript missense_variant 847/2487 553/1551 185/516 L/F Ctc/Ttc rs755466968 1 -1 KYAT1 HGNC HGNC:1564 protein_coding YES CCDS75915.1 ENSP00000399415 B7Z4W5 UPI0000EE5683 NM_001287390.1,NM_001352994.1,NM_001352996.1,NM_001352995.1 tolerated(0.36) benign(0.015) 6/15 Gene3D:3.40.640.10,Pfam_domain:PF00155,hmmpanther:PTHR43807,hmmpanther:PTHR43807:SF14,Superfamily_domains:SSF53383,cd00609 MODERATE 1 SNV 2 PASS AGC . . 1.624e-05 0.0001299 128838298 MAN1B1 . GRCh38 chr9 137088875 137088875 + Missense_Mutation SNP C C T rs760858034 7316-3022 BS_0KKH9VKP C C c.335C>T p.Ala112Val p.A112V ENST00000371589 3/13 94 88 5 27 26 0 MAN1B1,missense_variant,p.Ala112Val,ENST00000371589,NM_016219.4;MAN1B1,missense_variant,p.Ala76Val,ENST00000535144,;MAN1B1,intron_variant,,ENST00000542372,;UAP1L1,downstream_gene_variant,,ENST00000360271,;UAP1L1,downstream_gene_variant,,ENST00000409858,NM_207309.2;MAN1B1-DT,upstream_gene_variant,,ENST00000596585,;MAN1B1,non_coding_transcript_exon_variant,,ENST00000540346,;MAN1B1,upstream_gene_variant,,ENST00000474902,;MAN1B1,missense_variant,p.Ala112Val,ENST00000544448,;MAN1B1,3_prime_UTR_variant,,ENST00000371587,;MAN1B1,3_prime_UTR_variant,,ENST00000545539,;UAP1L1,downstream_gene_variant,,ENST00000474787,;MAN1B1,downstream_gene_variant,,ENST00000545096,; T ENSG00000177239 ENST00000371589 Transcript missense_variant 408/2769 335/2100 112/699 A/V gCt/gTt rs760858034 1 1 MAN1B1 HGNC HGNC:6823 protein_coding YES CCDS7029.1 ENSP00000360645 Q9UKM7 UPI0000169E6E NM_016219.4 tolerated(0.27) benign(0.024) 3/13 hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF77 uncertain_significance MODERATE 1 SNV 1 1 PASS GCT . . 1.625e-05 1.791e-05 0.0001823 3.25e-05 137088875 EHMT1 . GRCh38 chr9 137743369 137743369 + Splice_Site SNP A A T rs866090137 7316-3022 BS_0KKH9VKP A A c.824-2A>T p.X275_splice ENST00000460843 86 70 7 23 23 0 EHMT1,splice_acceptor_variant,,ENST00000460843,NM_024757.4,NM_001354263.1;EHMT1,splice_acceptor_variant,,ENST00000462484,NM_001145527.1;EHMT1,splice_acceptor_variant,,ENST00000629335,NM_001354611.1,NM_001354612.1;EHMT1,splice_acceptor_variant,,ENST00000637161,;EHMT1,splice_acceptor_variant,,ENST00000637318,;EHMT1,splice_acceptor_variant,,ENST00000637977,;EHMT1,intron_variant,,ENST00000478940,;EHMT1,intron_variant,,ENST00000626066,;EHMT1,intron_variant,,ENST00000636027,;EHMT1,intron_variant,,ENST00000640639,;EHMT1,upstream_gene_variant,,ENST00000629808,;EHMT1,splice_acceptor_variant,,ENST00000495657,;EHMT1,splice_acceptor_variant,,ENST00000371394,;EHMT1,splice_acceptor_variant,,ENST00000637261,;EHMT1,splice_acceptor_variant,,ENST00000638071,;EHMT1,upstream_gene_variant,,ENST00000462942,; T ENSG00000181090 ENST00000460843 Transcript splice_acceptor_variant rs866090137,COSM4680481,COSM4680482,COSM5964389,COSM5964390,COSM5964391,COSM6458580 1 1 EHMT1 HGNC HGNC:24650 protein_coding YES CCDS7050.2 ENSP00000417980 Q9H9B1 UPI000194EC2D NM_024757.4,NM_001354263.1 4/26 0,1,1,1,1,1,1 HIGH 1 SNV 5 0,1,1,1,1,1,1 1 PASS TAG . . 0.0002107 0.0001293 0.0001816 0.0005025 0.0003453 0.0001771 0.0003539 0.0002886 137743369 ITIH5 . GRCh38 chr10 7666803 7666803 + Missense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.90G>T p.Gln30His p.Q30H ENST00000397146 1/14 87 65 22 31 30 0 ITIH5,missense_variant,p.Gln30His,ENST00000397146,NM_030569.6;ITIH5,missense_variant,p.Gln30His,ENST00000397145,NM_001001851.2;,regulatory_region_variant,,ENSR00000024151,; A ENSG00000123243 ENST00000397146 Transcript missense_variant,splice_region_variant 169/6721 90/2829 30/942 Q/H caG/caT 1 -1 ITIH5 HGNC HGNC:21449 protein_coding ENSP00000380333 C9J2H1 UPI000014D02E NM_030569.6 deleterious(0.01) probably_damaging(0.93) 1/14 hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338 MODERATE 1 SNV 1 PASS CCT . . 7666803 CELF2 . GRCh38 chr10 11257817 11257817 + Frame_Shift_Del DEL A A - novel 7316-3022 BS_0KKH9VKP A A c.483del p.Phe162LeufsTer4 p.F162Lfs*4 ENST00000542579 5/14 110 81 21 23 22 0 CELF2,frameshift_variant,p.Phe131LeufsTer4,ENST00000417956,NM_001025076.2;CELF2,frameshift_variant,p.Phe162LeufsTer4,ENST00000542579,NM_006561.3;CELF2,frameshift_variant,p.Phe131LeufsTer4,ENST00000399850,;CELF2,frameshift_variant,p.Phe155LeufsTer4,ENST00000416382,NM_001025077.2;CELF2,frameshift_variant,p.Phe155LeufsTer4,ENST00000631460,;CELF2,frameshift_variant,p.Phe167LeufsTer4,ENST00000636488,;CELF2,frameshift_variant,p.Phe131LeufsTer4,ENST00000632728,;CELF2,frameshift_variant,p.Phe167LeufsTer4,ENST00000637215,;CELF2,frameshift_variant,p.Phe131LeufsTer4,ENST00000609692,;CELF2,frameshift_variant,p.Phe162LeufsTer4,ENST00000632065,;CELF2,frameshift_variant,p.Phe131LeufsTer4,ENST00000608830,NM_001083591.1;CELF2,frameshift_variant,p.Phe131LeufsTer4,ENST00000638035,;CELF2,frameshift_variant,p.Phe155LeufsTer4,ENST00000631816,;CELF2,frameshift_variant,p.Phe131LeufsTer4,ENST00000354897,;CELF2,frameshift_variant,p.Phe162LeufsTer4,ENST00000633077,;CELF2,3_prime_UTR_variant,,ENST00000609870,;CELF2,3_prime_UTR_variant,,ENST00000633200,; - ENSG00000048740 ENST00000542579 Transcript frameshift_variant 643/7982 483/1566 161/521 P/X ccA/cc 1 1 CELF2 HGNC HGNC:2550 protein_coding YES CCDS44355.1 ENSP00000443926 E9PC62 UPI0000F58F21 NM_006561.3 5/14 Gene3D:3.30.70.330,Pfam_domain:PF00076,Prints_domain:PR00961,PROSITE_profiles:PS50102,hmmpanther:PTHR44209,hmmpanther:PTHR44209:SF3,SMART_domains:SM00360,Superfamily_domains:SSF54928,cd12634 HIGH 1 deletion 1 PASS CCAT . . 11257816 FAM107B . GRCh38 chr10 14667634 14667634 + Missense_Mutation SNP C C T 7316-3022 BS_0KKH9VKP C C c.469G>A p.Asp157Asn p.D157N ENST00000181796 2/5 74 69 5 28 27 0 FAM107B,missense_variant,p.Asp157Asn,ENST00000181796,NM_031453.3;RNA5SP302,upstream_gene_variant,,ENST00000364896,;FAM107B,missense_variant,p.Gly157Arg,ENST00000487335,; T ENSG00000065809 ENST00000181796 Transcript missense_variant,splice_region_variant 703/3785 469/921 157/306 D/N Gac/Aac COSM4837491 1 -1 FAM107B HGNC HGNC:23726 protein_coding YES CCDS7102.1 ENSP00000181796 Q9H098 UPI00001C0E1E NM_031453.3 deleterious_low_confidence(0) probably_damaging(0.996) 2/5 hmmpanther:PTHR16768:SF1,hmmpanther:PTHR16768,Gene3D:3.40.50.300 1 MODERATE 1 SNV 2 1 PASS CCT . . 14667634 MALRD1 . GRCh38 chr10 19205124 19205124 + Missense_Mutation SNP A A G novel 7316-3022 BS_0KKH9VKP A A c.2437A>G p.Asn813Asp p.N813D ENST00000454679 17/40 64 49 13 18 17 0 MALRD1,missense_variant,p.Asn813Asp,ENST00000454679,NM_001142308.2;MALRD1,missense_variant,p.Asn122Asp,ENST00000377266,; G ENSG00000204740 ENST00000454679 Transcript missense_variant 2605/6880 2437/6471 813/2156 N/D Aat/Gat 1 1 MALRD1 HGNC HGNC:24331 protein_coding YES CCDS73071.1 ENSP00000412763 Q5VYJ5 UPI000387C99A NM_001142308.2 deleterious(0.01) benign(0.045) 17/40 Gene3D:2.60.120.200,Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF86,SMART_domains:SM00137,Superfamily_domains:SSF49899,cd06263 MODERATE 1 SNV 1 PASS AAA . . 19205124 ARHGAP12 . GRCh38 chr10 31910524 31910525 + Splice_Region INS - - GG rs1214476468 7316-3022 BS_0KKH9VKP - - c.-72_-72+1insCC ENST00000344936 100 76 17 26 24 0 ARHGAP12,splice_region_variant,,ENST00000396144,NM_001270695.1;ARHGAP12,splice_region_variant,,ENST00000375245,NM_001270697.1;ARHGAP12,splice_region_variant,,ENST00000375250,NM_001270698.1,NM_001270696.1;ARHGAP12,splice_region_variant,,ENST00000344936,NM_018287.6;ARHGAP12,upstream_gene_variant,,ENST00000311380,NM_001270699.1;HMGB1P7,upstream_gene_variant,,ENST00000450921,; GG ENSG00000165322 ENST00000344936 Transcript splice_region_variant,5_prime_UTR_variant 164-165/4128 rs1214476468 1 -1 ARHGAP12 HGNC HGNC:16348 protein_coding YES CCDS7170.1 ENSP00000345808 Q8IWW6 UPI000007445E NM_018287.6 LOW 1 insertion 1 PASS ACC . . 31910524 ARHGAP12 . GRCh38 chr10 31910526 31910528 + Splice_Region DEL TTA TTA - rs1245412213 7316-3022 BS_0KKH9VKP TTA TTA c.-75_-73del ENST00000344936 2/20 101 78 16 25 24 0 ARHGAP12,splice_region_variant,,ENST00000396144,NM_001270695.1;ARHGAP12,splice_region_variant,,ENST00000375245,NM_001270697.1;ARHGAP12,splice_region_variant,,ENST00000375250,NM_001270698.1,NM_001270696.1;ARHGAP12,splice_region_variant,,ENST00000344936,NM_018287.6;ARHGAP12,upstream_gene_variant,,ENST00000311380,NM_001270699.1;HMGB1P7,upstream_gene_variant,,ENST00000450921,; - ENSG00000165322 ENST00000344936 Transcript splice_region_variant,5_prime_UTR_variant 161-163/4128 rs1245412213 1 -1 ARHGAP12 HGNC HGNC:16348 protein_coding YES CCDS7170.1 ENSP00000345808 Q8IWW6 UPI000007445E NM_018287.6 2/20 LOW 1 deletion 1 PASS CCTTAG . . 31910525 ARID5B . GRCh38 chr10 62091834 62091838 + Frame_Shift_Del DEL CATCA CATCA - novel 7316-3022 BS_0KKH9VKP CATCA CATCA c.2372_2376del p.His791ProfsTer2 p.H791Pfs*2 ENST00000279873 10/10 79 69 6 30 30 0 ARID5B,frameshift_variant,p.His791ProfsTer2,ENST00000279873,NM_032199.2;ARID5B,frameshift_variant,p.His548ProfsTer2,ENST00000309334,NM_001244638.1; - ENSG00000150347 ENST00000279873 Transcript frameshift_variant 2781-2785/7891 2371-2375/3567 791-792/1188 HH/X CATCAc/c 1 1 ARID5B HGNC HGNC:17362 protein_coding YES CCDS31208.1 ENSP00000279873 Q14865 UPI00001606F0 NM_032199.2 10/10 hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF37 HIGH 1 deletion 1 1 PASS AGCATCAC . . 62091833 TACR2 . GRCh38 chr10 69415039 69415039 + Missense_Mutation SNP G G A 7316-3022 BS_0KKH9VKP G G c.493C>T p.Pro165Ser p.P165S ENST00000373306 2/5 64 48 16 22 21 0 TACR2,missense_variant,p.Pro165Ser,ENST00000373306,NM_001057.2;TACR2,missense_variant,p.Pro129Ser,ENST00000619173,; A ENSG00000075073 ENST00000373306 Transcript missense_variant 1037/2083 493/1197 165/398 P/S Cct/Tct COSM1348800 1 -1 TACR2 HGNC HGNC:11527 protein_coding YES CCDS7293.1 ENSP00000362403 P21452 UPI0000061EE3 NM_001057.2 deleterious(0.03) probably_damaging(1) 2/5 Transmembrane_helices:TMhelix,cd16004,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR43919:SF4,hmmpanther:PTHR43919,Prints_domain:PR00237 1 MODERATE 1 SNV 1 1 PASS GGG . . 69415039 XRCC6P1 . GRCh38 chr10 93207713 93207713 + Splice_Region SNP G G T novel 7316-3022 BS_0KKH9VKP G G n.1306+3C>A ENST00000420392 74 63 10 28 27 0 XRCC6P1,splice_region_variant,,ENST00000420392,; T ENSG00000237417 ENST00000420392 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 XRCC6P1 HGNC HGNC:45183 processed_pseudogene YES 3/3 LOW 1 SNV PASS GGA . . 93207713 NLRP6 . GRCh38 chr11 281368 281368 + Missense_Mutation SNP G G T rs1414214476 7316-3022 BS_0KKH9VKP G G c.1634G>T p.Arg545Leu p.R545L ENST00000312165 4/8 92 83 5 38 38 0 NLRP6,missense_variant,p.Arg545Leu,ENST00000534750,NM_001276700.1;NLRP6,missense_variant,p.Arg545Leu,ENST00000312165,NM_138329.2;NLRP6,downstream_gene_variant,,ENST00000527946,;,regulatory_region_variant,,ENSR00000035592,; T ENSG00000174885 ENST00000312165 Transcript missense_variant 1634/2679 1634/2679 545/892 R/L cGc/cTc rs1414214476,COSM6727210 1 1 NLRP6 HGNC HGNC:22944 protein_coding YES CCDS7693.1 ENSP00000309767 P59044 UPI00001AEFE1 NM_138329.2 deleterious(0) probably_damaging(0.993) 4/8 hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 4.24e-06 3.03e-05 281368 OR8K5 . GRCh38 chr11 56160260 56160260 + Missense_Mutation SNP G G A rs145476036 7316-3022 BS_0KKH9VKP G G c.58C>T p.Arg20Trp p.R20W ENST00000313447 1/1 92 66 25 27 27 0 OR8K5,missense_variant,p.Arg20Trp,ENST00000313447,NM_001004058.2; A ENSG00000181752 ENST00000313447 Transcript missense_variant 58/924 58/924 20/307 R/W Cgg/Tgg rs145476036,COSM4419328 1 -1 OR8K5 HGNC HGNC:15315 protein_coding YES CCDS31521.1 ENSP00000323853 Q8NH50 UPI000004B231 NM_001004058.2 deleterious_low_confidence(0.02) benign(0.394) 1/1 hmmpanther:PTHR26452:SF60,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0.0004 0.002 0,1 MODERATE 1 SNV 0,1 PASS CGC . . 6.097e-05 0.0008117 0.0001826 56160260 C11orf24 . GRCh38 chr11 68262888 68262888 + Frame_Shift_Del DEL C C - rs1379319968 7316-3022 BS_0KKH9VKP C C c.107del p.Gly36AspfsTer2 p.G36Dfs*2 ENST00000304271 4/4 79 63 12 39 39 0 C11orf24,frameshift_variant,p.Gly36AspfsTer2,ENST00000304271,NM_022338.3;C11orf24,frameshift_variant,p.Gly36AspfsTer2,ENST00000533310,NM_001300913.1;C11orf24,downstream_gene_variant,,ENST00000527280,;C11orf24,non_coding_transcript_exon_variant,,ENST00000530166,;C11orf24,intron_variant,,ENST00000531745,;C11orf24,downstream_gene_variant,,ENST00000529590,;C11orf24,downstream_gene_variant,,ENST00000532534,;C11orf24,downstream_gene_variant,,ENST00000532969,;C11orf24,downstream_gene_variant,,ENST00000529339,; - ENSG00000171067 ENST00000304271 Transcript frameshift_variant 510/2063 107/1350 36/449 G/X gGa/ga rs1379319968 1 -1 C11orf24 HGNC HGNC:1174 protein_coding YES CCDS8180.1 ENSP00000307264 Q96F05 A0A024R5K9 UPI000006E42A NM_022338.3 4/4 hmmpanther:PTHR16021,hmmpanther:PTHR16021:SF9 HIGH 1 deletion 1 PASS ATCC . . 4.07e-06 8.992e-06 68262887 MRGPRF . GRCh38 chr11 69009876 69009876 + Missense_Mutation SNP G G A rs1481774308 7316-3022 BS_0KKH9VKP G G c.26C>T p.Ala9Val p.A9V ENST00000309099 2/3 87 58 26 31 27 0 MRGPRF,missense_variant,p.Ala9Val,ENST00000309099,NM_145015.4;MRGPRF,missense_variant,p.Ala9Val,ENST00000441623,NM_001098515.1;MRGPRF,missense_variant,p.Ala9Val,ENST00000320913,;MRGPRF-AS1,upstream_gene_variant,,ENST00000538407,;AP003071.3,downstream_gene_variant,,ENST00000562506,;MRGPRF-AS1,upstream_gene_variant,,ENST00000569428,;MRGPRF-AS1,upstream_gene_variant,,ENST00000569432,; A ENSG00000172935 ENST00000309099 Transcript missense_variant 409/2295 26/1032 9/343 A/V gCc/gTc rs1481774308 1 -1 MRGPRF HGNC HGNC:24828 protein_coding YES CCDS8188.1 ENSP00000309782 Q96AM1 A0A024R5F0 UPI000012F566 NM_145015.4 tolerated_low_confidence(0.74) benign(0.003) 2/3 Prints_domain:PR02112,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF3 MODERATE 1 SNV 1 PASS GGC . . 69009876 TRIM77 . GRCh38 chr11 89717513 89717513 + Nonsense_Mutation SNP G G T novel 7316-3022 BS_0KKH9VKP G G c.994G>T p.Gly332Ter p.G332* ENST00000398290 6/6 67 41 25 22 21 1 TRIM77,stop_gained,p.Gly332Ter,ENST00000398290,NM_001146162.1,NM_001271942.1;TRIM77,stop_gained,p.Gly138Ter,ENST00000534392,; T ENSG00000214414 ENST00000398290 Transcript stop_gained 994/1353 994/1353 332/450 G/* Gga/Tga 1 1 TRIM77 HGNC HGNC:34228 protein_coding YES CCDS60929.1 ENSP00000474003 I1YAP6 UPI00001607F2 NM_001146162.1,NM_001271942.1 6/6 Superfamily_domains:SSF49899,PROSITE_profiles:PS50188,hmmpanther:PTHR44030,hmmpanther:PTHR44030:SF8,Prints_domain:PR01407 HIGH 1 SNV 5 PASS GGG . . 89717513 MMP1 . GRCh38 chr11 102790744 102790768 + Frame_Shift_Del DEL GGAAAGTCATGTGCTATCATTTTGG GGAAAGTCATGTGCTATCATTTTGG - novel 7316-3022 BS_0KKH9VKP GGAAAGTCATGTGCTATCATTTTGG GGAAAGTCATGTGCTATCATTTTGG c.1235_1259del p.Pro412LeufsTer12 p.P412Lfs*12 ENST00000315274 9/10 91 80 11 30 30 0 MMP1,frameshift_variant,p.Pro412LeufsTer12,ENST00000315274,NM_002421.3,NM_001145938.1;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,intron_variant,,ENST00000525739,;WTAPP1,intron_variant,,ENST00000544704,; - ENSG00000196611 ENST00000315274 Transcript frameshift_variant 1303-1327/1970 1235-1259/1410 412-420/469 PKMIAHDFP/X cCCAAAATGATAGCACATGACTTTCCt/ct 1 -1 MMP1 HGNC HGNC:7155 protein_coding YES CCDS8322.1 ENSP00000322788 P03956 UPI00000422BA NM_002421.3,NM_001145938.1 9/10 PDB-ENSP_mappings:1su3.A,PDB-ENSP_mappings:1su3.B,PDB-ENSP_mappings:2clt.A,PDB-ENSP_mappings:2clt.B,PDB-ENSP_mappings:4auo.A,PDB-ENSP_mappings:4auo.B,cd00094,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,Gene3D:2.110.10.10,SMART_domains:SM00120,Superfamily_domains:SSF50923,PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF151,hmmpanther:PTHR10201 HIGH 1 deletion 1 1 PASS CAGGAAAGTCATGTGCTATCATTTTGGG . . 102790743 C11orf88 . GRCh38 chr11 111536793 111536793 + Missense_Mutation SNP A A G novel 7316-3022 BS_0KKH9VKP A A c.557A>G p.Lys186Arg p.K186R ENST00000332814 7/7 78 46 32 33 33 0 C11orf88,missense_variant,p.Lys186Arg,ENST00000332814,NM_207430.2;C11orf88,missense_variant,p.Lys159Arg,ENST00000375618,NM_001100388.1;C11orf88,3_prime_UTR_variant,,ENST00000529167,;LAYN,upstream_gene_variant,,ENST00000375614,NM_178834.4;LAYN,upstream_gene_variant,,ENST00000375615,NM_001258390.1;LAYN,upstream_gene_variant,,ENST00000436913,NM_001258391.1;LAYN,upstream_gene_variant,,ENST00000525126,;LAYN,upstream_gene_variant,,ENST00000528924,;LAYN,upstream_gene_variant,,ENST00000530962,NM_001318799.1;LAYN,upstream_gene_variant,,ENST00000533265,;LAYN,upstream_gene_variant,,ENST00000533999,;LAYN,upstream_gene_variant,,ENST00000528102,;C11orf88,3_prime_UTR_variant,,ENST00000529661,;LAYN,upstream_gene_variant,,ENST00000525866,; G ENSG00000183644 ENST00000332814 Transcript missense_variant 557/795 557/591 186/196 K/R aAa/aGa 1 1 C11orf88 HGNC HGNC:25061 protein_coding YES CCDS41712.1 ENSP00000333845 Q6PI97 UPI00001D7746 NM_207430.2 tolerated(0.53) benign(0.11) 7/7 mobidb-lite,hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF61 MODERATE SNV 5 PASS AAA . . 111536793 KCNA1 . GRCh38 chr12 4912834 4912834 + Missense_Mutation SNP G G C rs766403463 7316-3022 BS_0KKH9VKP G G c.1456G>C p.Val486Leu p.V486L ENST00000382545 2/2 89 75 12 26 24 0 KCNA1,missense_variant,p.Val486Leu,ENST00000382545,NM_000217.2;KCNA1,intron_variant,,ENST00000639680,;AC005906.2,intron_variant,,ENST00000541095,;AC005906.2,intron_variant,,ENST00000638821,;AC005906.2,intron_variant,,ENST00000640877,;AC005906.2,intron_variant,,ENST00000640962,;KCNA1,intron_variant,,ENST00000543874,;KCNA1,missense_variant,p.Val432Leu,ENST00000639306,; C ENSG00000111262 ENST00000382545 Transcript missense_variant 2575/7997 1456/1488 486/495 V/L Gtt/Ctt rs766403463,COSM1211395 1 1 KCNA1 HGNC HGNC:6218 protein_coding YES CCDS8535.1 ENSP00000371985 Q09470 UPI000013C8E0 NM_000217.2 tolerated_low_confidence(0.18) benign(0.241) 2/2 Prints_domain:PR01508 0,1 MODERATE 1 SNV 4 0,1 1 PASS CGT . . 4.063e-06 3.249e-05 4912834 KLRF2 . GRCh38 chr12 9895717 9895717 + Missense_Mutation SNP A A T novel 7316-3022 BS_0KKH9VKP A A c.508A>T p.Arg170Trp p.R170W ENST00000535540 6/6 80 49 29 33 33 0 KLRF2,missense_variant,p.Arg170Trp,ENST00000535540,NM_001190765.1;CLEC2A,downstream_gene_variant,,ENST00000339766,NM_207375.2; T ENSG00000256797 ENST00000535540 Transcript missense_variant 615/731 508/624 170/207 R/W Agg/Tgg 1 1 KLRF2 HGNC HGNC:37646 protein_coding YES CCDS53743.1 ENSP00000438244 D3W0D1 UPI0001CADE27 NM_001190765.1 deleterious(0.02) benign(0.019) 6/6 PDB-ENSP_mappings:4iop.B,PROSITE_profiles:PS50041,cd03593,hmmpanther:PTHR22800:SF147,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436 MODERATE 1 SNV 1 PASS CAG . . 9895717 DENND5B . GRCh38 chr12 31499598 31499598 + Splice_Region SNP A A G novel 7316-3022 BS_0KKH9VKP A A c.232+8T>C ENST00000536562 105 89 14 33 32 0 DENND5B,splice_region_variant,,ENST00000354285,;DENND5B,splice_region_variant,,ENST00000536562,NM_001308339.1;DENND5B,intron_variant,,ENST00000389082,NM_144973.3;DENND5B,upstream_gene_variant,,ENST00000546299,;DENND5B,intron_variant,,ENST00000545147,;DENND5B,intron_variant,,ENST00000544698,; G ENSG00000170456 ENST00000536562 Transcript splice_region_variant,intron_variant 1 -1 DENND5B HGNC HGNC:28338 protein_coding YES CCDS76542.1 ENSP00000444889 G3V1S3 UPI0000D621CB NM_001308339.1 3/22 LOW 1 SNV 2 PASS TAT . . 31499598 PPHLN1 . GRCh38 chr12 42446249 42446249 + Frame_Shift_Del DEL T T - novel 7316-3022 BS_0KKH9VKP T T c.1310del p.Phe437SerfsTer16 p.F437Sfs*16 ENST00000395568 12/13 70 52 15 29 28 0 PPHLN1,frameshift_variant,p.Phe413SerfsTer16,ENST00000432191,NM_001143787.1;PPHLN1,frameshift_variant,p.Phe437SerfsTer16,ENST00000395568,NM_016488.6;PPHLN1,frameshift_variant,p.Phe342SerfsTer16,ENST00000256678,;PPHLN1,frameshift_variant,p.Phe437SerfsTer16,ENST00000610488,;PPHLN1,frameshift_variant,p.Phe413SerfsTer16,ENST00000619544,;PPHLN1,intron_variant,,ENST00000317560,;PPHLN1,downstream_gene_variant,,ENST00000337898,;PPHLN1,downstream_gene_variant,,ENST00000358314,NM_201439.1;PPHLN1,downstream_gene_variant,,ENST00000395580,NM_201515.1;PPHLN1,downstream_gene_variant,,ENST00000449194,NM_001143788.1,NM_001143789.1;PPHLN1,downstream_gene_variant,,ENST00000549190,;PPHLN1,downstream_gene_variant,,ENST00000552761,NM_201438.1,NM_201440.1;PPHLN1,downstream_gene_variant,,ENST00000613154,;PPHLN1,non_coding_transcript_exon_variant,,ENST00000624028,; - ENSG00000134283 ENST00000395568 Transcript frameshift_variant 1393/2170 1309/1377 437/458 F/X Ttc/tc 1 1 PPHLN1 HGNC HGNC:19369 protein_coding YES CCDS31777.1 ENSP00000378935 Q8NEY8 UPI0000351A1E NM_016488.6 12/13 HIGH 1 deletion 1 1 PASS TGTT . . 42446248 PUS7L . GRCh38 chr12 43746230 43746230 + Frame_Shift_Del DEL T T - novel 7316-3022 BS_0KKH9VKP T T c.1079del p.Asn360IlefsTer11 p.N360Ifs*11 ENST00000344862 4/9 82 70 9 24 23 0 PUS7L,frameshift_variant,p.Asn360IlefsTer11,ENST00000344862,NM_031292.4;PUS7L,frameshift_variant,p.Asn360IlefsTer11,ENST00000416848,NM_001098615.1;PUS7L,frameshift_variant,p.Asn360IlefsTer11,ENST00000551923,NM_001098614.2;PUS7L,frameshift_variant,p.Asn47IlefsTer11,ENST00000431332,NM_001271826.1;PUS7L,frameshift_variant,p.Asn47IlefsTer11,ENST00000550784,;PUS7L,frameshift_variant,p.Asn47IlefsTer11,ENST00000547156,;PUS7L,frameshift_variant,p.Asn360IlefsTer?,ENST00000553166,; - ENSG00000129317 ENST00000344862 Transcript frameshift_variant 1183/13593 1079/2106 360/701 N/X aAt/at 1 -1 PUS7L HGNC HGNC:25276 protein_coding YES CCDS8743.1 ENSP00000343081 Q9H0K6 UPI0000037C53 NM_031292.4 4/9 Pfam_domain:PF01142,PIRSF_domain:PIRSF037016,hmmpanther:PTHR13326,hmmpanther:PTHR13326:SF1,Superfamily_domains:SSF55120,TIGRFAM_domain:TIGR00094,cd02576 HIGH 1 deletion 1 PASS TATT . . 43746229 DAO . GRCh38 chr12 108889544 108889544 + Missense_Mutation SNP G G A rs768551628 7316-3022 BS_0KKH9VKP G G c.385G>A p.Gly129Ser p.G129S ENST00000228476 4/11 72 56 14 36 36 0 DAO,missense_variant,p.Gly129Ser,ENST00000228476,NM_001917.4;DAO,missense_variant,p.Gly6Ser,ENST00000547768,;DAO,missense_variant,p.Gly129Ser,ENST00000547166,;DAO,intron_variant,,ENST00000551281,;DAO,splice_region_variant,,ENST00000547122,;DAO,intron_variant,,ENST00000549215,; A ENSG00000110887 ENST00000228476 Transcript missense_variant,splice_region_variant 589/1756 385/1044 129/347 G/S Ggc/Agc rs768551628,COSM5796874,COSM1510772 1 1 DAO HGNC HGNC:2671 protein_coding YES CCDS9122.1 ENSP00000228476 P14920 A0A024RBI1 UPI0000130F5F NM_001917.4 tolerated(1) benign(0) 4/11 PDB-ENSP_mappings:2du8.A,PDB-ENSP_mappings:2du8.B,PDB-ENSP_mappings:2du8.G,PDB-ENSP_mappings:2du8.J,PDB-ENSP_mappings:2e48.A,PDB-ENSP_mappings:2e48.B,PDB-ENSP_mappings:2e48.C,PDB-ENSP_mappings:2e48.D,PDB-ENSP_mappings:2e49.A,PDB-ENSP_mappings:2e49.B,PDB-ENSP_mappings:2e49.C,PDB-ENSP_mappings:2e49.D,PDB-ENSP_mappings:2e4a.A,PDB-ENSP_mappings:2e4a.B,PDB-ENSP_mappings:2e4a.C,PDB-ENSP_mappings:2e4a.D,PDB-ENSP_mappings:2e82.A,PDB-ENSP_mappings:2e82.B,PDB-ENSP_mappings:2e82.C,PDB-ENSP_mappings:2e82.D,Gene3D:3.30.9.10,PDB-ENSP_mappings:3cuk.A,PDB-ENSP_mappings:3cuk.B,PDB-ENSP_mappings:3cuk.C,PDB-ENSP_mappings:3cuk.D,PDB-ENSP_mappings:3g3e.A,PDB-ENSP_mappings:3g3e.B,PDB-ENSP_mappings:3g3e.C,PDB-ENSP_mappings:3g3e.D,PDB-ENSP_mappings:3w4i.A,PDB-ENSP_mappings:3w4i.B,PDB-ENSP_mappings:3w4i.C,PDB-ENSP_mappings:3w4i.D,PDB-ENSP_mappings:3w4j.A,PDB-ENSP_mappings:3w4j.B,PDB-ENSP_mappings:3w4j.C,PDB-ENSP_mappings:3w4j.D,PDB-ENSP_mappings:3w4k.A,PDB-ENSP_mappings:3w4k.B,PDB-ENSP_mappings:3w4k.C,PDB-ENSP_mappings:3w4k.D,PDB-ENSP_mappings:3znn.A,PDB-ENSP_mappings:3znn.B,PDB-ENSP_mappings:3zno.A,PDB-ENSP_mappings:3zno.B,PDB-ENSP_mappings:3znp.A,PDB-ENSP_mappings:3znp.B,PDB-ENSP_mappings:3znq.A,PDB-ENSP_mappings:3znq.B,PDB-ENSP_mappings:4qfc.A,PDB-ENSP_mappings:4qfc.B,PDB-ENSP_mappings:4qfd.A,PDB-ENSP_mappings:4qfd.B,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF15,Superfamily_domains:SSF51971 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CGG . . 1.624e-05 2.978e-05 1.791e-05 3.249e-05 108889544 ACAD10 . GRCh38 chr12 111709542 111709542 + Missense_Mutation SNP T T C novel 7316-3022 BS_0KKH9VKP T T c.548T>C p.Met183Thr p.M183T ENST00000455480 5/22 71 50 18 24 24 0 ACAD10,missense_variant,p.Met183Thr,ENST00000455480,NM_001136538.1;ACAD10,missense_variant,p.Met183Thr,ENST00000313698,NM_025247.5;ACAD10,missense_variant,p.Met183Thr,ENST00000549590,;ACAD10,intron_variant,,ENST00000515283,;ACAD10,upstream_gene_variant,,ENST00000507683,;ACAD10,upstream_gene_variant,,ENST00000552706,;ACAD10,non_coding_transcript_exon_variant,,ENST00000413681,;ACAD10,non_coding_transcript_exon_variant,,ENST00000502746,;ACAD10,non_coding_transcript_exon_variant,,ENST00000507135,;ACAD10,non_coding_transcript_exon_variant,,ENST00000509936,;ACAD10,upstream_gene_variant,,ENST00000514847,; C ENSG00000111271 ENST00000455480 Transcript missense_variant 725/4071 548/3273 183/1090 M/T aTg/aCg 1 1 ACAD10 HGNC HGNC:21597 protein_coding YES CCDS44973.1 ENSP00000389813 Q6JQN1 UPI000013F5E7 NM_001136538.1 tolerated(0.11) benign(0.005) 5/22 Gene3D:3.40.50.1000,Pfam_domain:PF13419,Prints_domain:PR00413,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF221,SFLDG01129,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01509,TIGRFAM_domain:TIGR02247,cd02603 MODERATE 1 SNV 1 PASS ATG . . 111709542 CIT . GRCh38 chr12 119713651 119713655 + Splice_Region DEL AGGGA AGGGA - novel 7316-3022 BS_0KKH9VKP AGGGA AGGGA c.4307-7_4307-3del ENST00000392521 76 66 10 38 38 0 CIT,splice_region_variant,,ENST00000261833,NM_007174.2;CIT,splice_region_variant,,ENST00000392520,;CIT,splice_region_variant,,ENST00000392521,NM_001206999.1;CIT,intron_variant,,ENST00000612548,;MIR1178,mature_miRNA_variant,,ENST00000408396,;CIT,splice_region_variant,,ENST00000537607,;CIT,upstream_gene_variant,,ENST00000543324,;CIT,splice_region_variant,,ENST00000545913,;CIT,non_coding_transcript_exon_variant,,ENST00000543239,;CIT,non_coding_transcript_exon_variant,,ENST00000536008,;CIT,upstream_gene_variant,,ENST00000538073,;CIT,downstream_gene_variant,,ENST00000544588,;CIT,upstream_gene_variant,,ENST00000544800,; - ENSG00000122966 ENST00000392521 Transcript splice_region_variant,intron_variant 1 -1 CIT HGNC HGNC:1985 protein_coding YES CCDS55891.1 ENSP00000376306 O14578 UPI0000683C41 NM_001206999.1 33/47 LOW 1 deletion 1 1 PASS CTAGGGAA . . 119713650 METTL3 . GRCh38 chr14 21500962 21500962 + Missense_Mutation SNP G G A novel 7316-3022 BS_0KKH9VKP G G c.1067C>T p.Thr356Ile p.T356I ENST00000298717 5/11 67 54 10 21 21 0 METTL3,missense_variant,p.Thr356Ile,ENST00000298717,NM_019852.4;METTL3,downstream_gene_variant,,ENST00000377543,;TOX4,downstream_gene_variant,,ENST00000448790,NM_001303523.1,NM_014828.3;TOX4,downstream_gene_variant,,ENST00000613569,;METTL3,missense_variant,p.Thr306Ile,ENST00000539760,;METTL3,3_prime_UTR_variant,,ENST00000543235,;METTL3,3_prime_UTR_variant,,ENST00000537163,;METTL3,3_prime_UTR_variant,,ENST00000544248,;METTL3,non_coding_transcript_exon_variant,,ENST00000544500,;METTL3,intron_variant,,ENST00000396522,;TOX4,downstream_gene_variant,,ENST00000455393,;METTL3,downstream_gene_variant,,ENST00000536201,;METTL3,downstream_gene_variant,,ENST00000538267,;METTL3,downstream_gene_variant,,ENST00000542054,;TOX4,downstream_gene_variant,,ENST00000613005,; A ENSG00000165819 ENST00000298717 Transcript missense_variant 1219/2015 1067/1743 356/580 T/I aCa/aTa 1 -1 METTL3 HGNC HGNC:17563 protein_coding YES CCDS32044.1 ENSP00000298717 Q86U44 UPI000006CD69 NM_019852.4 tolerated(0.44) benign(0.03) 5/11 PROSITE_profiles:PS51143,PROSITE_profiles:PS51563,hmmpanther:PTHR12829,hmmpanther:PTHR12829:SF2 MODERATE 1 SNV 1 PASS TGT . . 21500962 KIAA0586 . GRCh38 chr14 58450742 58450742 + Missense_Mutation SNP C C G novel 7316-3022 BS_0KKH9VKP C C c.1284C>G p.His428Gln p.H428Q ENST00000354386 10/34 57 43 12 22 22 0 KIAA0586,missense_variant,p.His360Gln,ENST00000619416,NM_001244190.1;KIAA0586,missense_variant,p.His331Gln,ENST00000556134,;KIAA0586,missense_variant,p.His290Gln,ENST00000619722,NM_001244193.1,NM_001244191.1;KIAA0586,missense_variant,p.His331Gln,ENST00000423743,NM_001244192.1;KIAA0586,missense_variant,p.His428Gln,ENST00000354386,NM_001244189.1;KIAA0586,missense_variant,p.His375Gln,ENST00000261244,NM_014749.3;KIAA0586,downstream_gene_variant,,ENST00000555833,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,; G ENSG00000100578 ENST00000354386 Transcript missense_variant 1528/5226 1284/4935 428/1644 H/Q caC/caG 1 1 KIAA0586 HGNC HGNC:19960 protein_coding YES CCDS58320.1 ENSP00000346359 Q9BVV6 UPI0001AE6998 NM_001244189.1 tolerated(0.19) benign(0.013) 10/34 hmmpanther:PTHR15721,Pfam_domain:PF15324 MODERATE 1 SNV 2 1 PASS ACA . . 58450742 EXD2 . GRCh38 chr14 69234849 69234849 + Missense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.867C>A p.Asp289Glu p.D289E ENST00000312994 5/9 65 47 17 24 24 0 EXD2,missense_variant,p.Asp289Glu,ENST00000312994,NM_001193363.1,NM_001193362.1;EXD2,missense_variant,p.Asp164Glu,ENST00000409014,;EXD2,missense_variant,p.Asp289Glu,ENST00000409018,NM_001193360.1,NM_001193361.1;EXD2,missense_variant,p.Asp164Glu,ENST00000409675,NM_018199.3;EXD2,missense_variant,p.Asp164Glu,ENST00000409949,;EXD2,missense_variant,p.Asp164Glu,ENST00000409242,;EXD2,downstream_gene_variant,,ENST00000413191,;AL359317.1,downstream_gene_variant,,ENST00000556316,;EXD2,non_coding_transcript_exon_variant,,ENST00000492815,;EXD2,downstream_gene_variant,,ENST00000489133,;EXD2,downstream_gene_variant,,ENST00000494629,;EXD2,upstream_gene_variant,,ENST00000465286,; A ENSG00000081177 ENST00000312994 Transcript missense_variant 1188/5107 867/1866 289/621 D/E gaC/gaA 1 1 EXD2 HGNC HGNC:20217 protein_coding YES CCDS53902.1 ENSP00000313140 Q9NVH0 UPI0000577ED7 NM_001193363.1,NM_001193362.1 deleterious(0) probably_damaging(0.965) 5/9 hmmpanther:PTHR13620,hmmpanther:PTHR13620:SF0 MODERATE 1 SNV 2 PASS ACA . . 69234849 USP3 . GRCh38 chr15 63562946 63562946 + Missense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.699C>A p.Ser233Arg p.S233R ENST00000380324 8/15 81 74 6 28 27 0 USP3,missense_variant,p.Ser189Arg,ENST00000540797,NM_001256702.1;USP3,missense_variant,p.Ser211Arg,ENST00000268049,;USP3,missense_variant,p.Ser233Arg,ENST00000380324,NM_006537.3;USP3,missense_variant,p.Ser216Arg,ENST00000558285,;USP3,missense_variant,p.Ser144Arg,ENST00000559711,;USP3,downstream_gene_variant,,ENST00000560070,;USP3-AS1,intron_variant,,ENST00000559357,;USP3-AS1,intron_variant,,ENST00000559861,;USP3-AS1,intron_variant,,ENST00000560350,;USP3,non_coding_transcript_exon_variant,,ENST00000561326,;USP3,missense_variant,p.Ser156Arg,ENST00000559257,;USP3,3_prime_UTR_variant,,ENST00000559192,;USP3,3_prime_UTR_variant,,ENST00000558157,;USP3,3_prime_UTR_variant,,ENST00000538686,;USP3,intron_variant,,ENST00000559873,;USP3,downstream_gene_variant,,ENST00000557884,; A ENSG00000140455 ENST00000380324 Transcript missense_variant 828/2333 699/1563 233/520 S/R agC/agA 1 1 USP3 HGNC HGNC:12626 protein_coding YES CCDS32265.1 ENSP00000369681 Q9Y6I4 UPI0000071F2D NM_006537.3 deleterious(0.01) benign(0.424) 8/15 PROSITE_profiles:PS50235,hmmpanther:PTHR44446,Pfam_domain:PF00443,Gene3D:3.90.70.10,Superfamily_domains:SSF54001 MODERATE 1 SNV 1 PASS GCC . . 63562946 HYKK . GRCh38 chr15 78514969 78514969 + Splice_Region SNP T T C novel 7316-3022 BS_0KKH9VKP T T c.339T>C p.Asp113= p.D113= ENST00000569878 2/4 57 49 8 25 24 0 HYKK,splice_region_variant,p.Asp113=,ENST00000569878,;HYKK,splice_region_variant,p.Asp113=,ENST00000566332,;HYKK,splice_region_variant,p.Asp113=,ENST00000388988,NM_001013619.3;HYKK,splice_region_variant,p.Asp113=,ENST00000408962,NM_001083612.1;HYKK,splice_region_variant,p.Asp113=,ENST00000563233,;HYKK,splice_region_variant,p.Asp113=,ENST00000566289,; C ENSG00000188266 ENST00000569878 Transcript splice_region_variant,synonymous_variant 339/4097 339/1122 113/373 D gaT/gaC 1 1 HYKK HGNC HGNC:34403 protein_coding YES CCDS42063.1 ENSP00000455459 A2RU49 UPI0000366A7F 2/4 hmmpanther:PTHR21064,Gene3D:3.30.200.20,Pfam_domain:PF01636,Superfamily_domains:SSF56112 LOW 1 SNV 5 PASS ATA . . 78514969 SEMA4B . GRCh38 chr15 90228379 90228379 + Frame_Shift_Del DEL G G - novel 7316-3022 BS_0KKH9VKP G G c.2254del p.Glu752AsnfsTer24 p.E752Nfs*24 ENST00000411539 14/14 75 54 18 39 39 0 SEMA4B,frameshift_variant,p.Glu752AsnfsTer24,ENST00000411539,NM_001324032.1,NM_001324034.1,NM_001324033.1,NM_198925.2,NM_001324031.1;SEMA4B,frameshift_variant,p.Glu752AsnfsTer24,ENST00000332496,NM_001324030.1,NM_001324029.1,NM_020210.3;SEMA4B,3_prime_UTR_variant,,ENST00000559247,;SEMA4B,intron_variant,,ENST00000559074,;CIB1,downstream_gene_variant,,ENST00000328649,NM_006384.3;SEMA4B,downstream_gene_variant,,ENST00000559983,;CIB1,downstream_gene_variant,,ENST00000612800,NM_001277764.1;SEMA4B,3_prime_UTR_variant,,ENST00000560089,;SEMA4B,non_coding_transcript_exon_variant,,ENST00000558065,;SEMA4B,downstream_gene_variant,,ENST00000558975,;SEMA4B,downstream_gene_variant,,ENST00000560993,;SEMA4B,downstream_gene_variant,,ENST00000561252,;SEMA4B,downstream_gene_variant,,ENST00000561321,; - ENSG00000185033 ENST00000411539 Transcript frameshift_variant 2510/3807 2250/2514 750/837 Q/X caG/ca 1 1 SEMA4B HGNC HGNC:10730 protein_coding YES CCDS45347.1 ENSP00000394720 J3KNP4 UPI0000197391 NM_001324032.1,NM_001324034.1,NM_001324033.1,NM_198925.2,NM_001324031.1 14/14 hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF14 HIGH 1 deletion 1 4 PASS CAGG . . 90228378 MARF1 . GRCh38 chr16 15635704 15635704 + Frame_Shift_Del DEL A A - novel 7316-3022 BS_0KKH9VKP A A c.783del p.Pro262ArgfsTer4 p.P262Rfs*4 ENST00000396368 3/27 80 69 6 27 26 0 MARF1,frameshift_variant,p.Pro262ArgfsTer4,ENST00000396368,NM_014647.3;MARF1,frameshift_variant,p.Pro262ArgfsTer4,ENST00000540441,;MARF1,frameshift_variant,p.Pro262ArgfsTer4,ENST00000551742,NM_001184998.1;MARF1,frameshift_variant,p.Pro262ArgfsTer4,ENST00000548025,NM_001184999.1;MARF1,downstream_gene_variant,,ENST00000549219,;MARF1,frameshift_variant,p.Pro262ArgfsTer4,ENST00000552553,;MARF1,non_coding_transcript_exon_variant,,ENST00000548216,; - ENSG00000166783 ENST00000396368 Transcript frameshift_variant 990/7743 783/5229 261/1742 P/X ccT/cc 1 -1 MARF1 HGNC HGNC:29562 protein_coding YES CCDS10562.2 ENSP00000379654 Q9Y4F3 UPI00006881BC NM_014647.3 3/27 HIGH 1 deletion 1 PASS GGAG . . 15635703 PDPR . GRCh38 chr16 70120577 70120577 + Missense_Mutation SNP A A G rs200469748 7316-3022 BS_0KKH9VKP A A c.85A>G p.Thr29Ala p.T29A ENST00000288050 3/19 57 48 8 43 43 0 PDPR,missense_variant,p.Thr29Ala,ENST00000288050,NM_001322117.1,NM_017990.4;PDPR,missense_variant,p.Thr29Ala,ENST00000568530,;PDPR,intron_variant,,ENST00000398122,NM_001322119.1,NM_001322118.1;PDPR,missense_variant,p.Thr29Ala,ENST00000565186,;PDPR,non_coding_transcript_exon_variant,,ENST00000561920,; G ENSG00000090857 ENST00000288050 Transcript missense_variant 1042/9255 85/2640 29/879 T/A Acg/Gcg rs200469748,COSM215659 1 1 PDPR HGNC HGNC:30264 protein_coding YES CCDS45520.1 ENSP00000288050 Q8NCN5 UPI00001FF513 NM_001322117.1,NM_017990.4 tolerated(0.74) benign(0) 3/19 hmmpanther:PTHR13847:SF193,hmmpanther:PTHR13847,Gene3D:3.50.50.60 not_provided 0,1 MODERATE 1 SNV 1 0,1 PASS CAC . . 0.009884 0.019 0.001644 0.003394 0.001631 0.06553 0.007394 0.004782 0.001237 70120577 PMFBP1 . GRCh38 chr16 72130331 72130331 + Missense_Mutation SNP T T C novel 7316-3022 BS_0KKH9VKP T T c.1664A>G p.Glu555Gly p.E555G ENST00000237353 12/21 87 63 22 36 36 0 PMFBP1,missense_variant,p.Glu560Gly,ENST00000537465,;PMFBP1,missense_variant,p.Glu555Gly,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.Glu410Gly,ENST00000355636,NM_001160213.1;PMFBP1,missense_variant,p.Glu358Gly,ENST00000537392,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,; C ENSG00000118557 ENST00000237353 Transcript missense_variant 1926/3527 1664/3024 555/1007 E/G gAa/gGa 1 -1 PMFBP1 HGNC HGNC:17728 protein_coding YES CCDS32483.1 ENSP00000237353 Q8TBY8 UPI0000141554 NM_031293.2 deleterious(0) benign(0.244) 12/21 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18881,Gene3D:1.20.5.340 MODERATE 1 SNV 1 PASS TTC . . 72130331 VPS53 . GRCh38 chr17 553435 553435 + Missense_Mutation SNP C C T novel 7316-3022 BS_0KKH9VKP C C c.1732G>A p.Asp578Asn p.D578N ENST00000437048 16/22 73 61 11 27 27 0 VPS53,missense_variant,p.Asp578Asn,ENST00000437048,NM_001128159.2;VPS53,missense_variant,p.Asp549Asn,ENST00000291074,NM_018289.3;VPS53,missense_variant,p.Asp578Asn,ENST00000571805,;VPS53,missense_variant,p.Asp301Asn,ENST00000401468,;VPS53,intron_variant,,ENST00000574029,;AC015853.1,downstream_gene_variant,,ENST00000574008,;VPS53,non_coding_transcript_exon_variant,,ENST00000576149,;VPS53,missense_variant,p.Asp530Asn,ENST00000389040,;VPS53,3_prime_UTR_variant,,ENST00000573028,;VPS53,non_coding_transcript_exon_variant,,ENST00000572607,; T ENSG00000141252 ENST00000437048 Transcript missense_variant 1879/13106 1732/2499 578/832 D/N Gat/Aat 1 -1 VPS53 HGNC HGNC:25608 protein_coding YES CCDS45558.1 ENSP00000401435 Q5VIR6 UPI0000DBEF01 NM_001128159.2 tolerated(0.08) possibly_damaging(0.597) 16/22 hmmpanther:PTHR12820,Gene3D:1.20.5.340 MODERATE 1 SNV 1 1 PASS TCC . . 553435 TP53 . GRCh38 chr17 7674256 7674256 + Missense_Mutation SNP T T C 7316-3022 BS_0KKH9VKP T T c.707A>G p.Tyr236Cys p.Y236C ENST00000269305 7/11 50 32 17 20 19 0 TP53,missense_variant,p.Tyr236Cys,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Tyr236Cys,ENST00000420246,;TP53,missense_variant,p.Tyr197Cys,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Tyr197Cys,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Tyr236Cys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Tyr197Cys,ENST00000610538,;TP53,missense_variant,p.Tyr236Cys,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,missense_variant,p.Tyr197Cys,ENST00000620739,;TP53,missense_variant,p.Tyr236Cys,ENST00000445888,;TP53,missense_variant,p.Tyr197Cys,ENST00000619485,;TP53,missense_variant,p.Tyr104Cys,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,missense_variant,p.Tyr77Cys,ENST00000618944,;TP53,missense_variant,p.Tyr104Cys,ENST00000504290,;TP53,missense_variant,p.Tyr77Cys,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,missense_variant,p.Tyr104Cys,ENST00000504937,;TP53,missense_variant,p.Tyr77Cys,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,missense_variant,p.Tyr236Cys,ENST00000359597,;TP53,missense_variant,p.Tyr225Cys,ENST00000615910,;TP53,missense_variant,p.Tyr236Cys,ENST00000413465,;TP53,missense_variant,p.Tyr104Cys,ENST00000509690,;TP53,missense_variant,p.Tyr143Cys,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.Tyr197Cys,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,; C ENSG00000141510 ENST00000269305 Transcript missense_variant 897/2579 707/1182 236/393 Y/C tAc/tGc CM004907,TP53_g.13344A>G,COSM4766270,COSM4766269,COSM44693,COSM3958814,COSM3958813,COSM3958812,COSM3958811,COSM3958810,COSM3958809,COSM3773303,COSM1646851,COSM1172472,COSM1172471,COSM1172470,COSM116674,COSM116673,COSM116672,COSM10731 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 deleterious(0) probably_damaging(0.99) 7/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 MODERATE 1 SNV 1 1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS GTA . . 7674256 NF1 . GRCh38 chr17 31327694 31327694 + Nonsense_Mutation SNP C C T 7316-3022 BS_0KKH9VKP C C c.5464C>T p.Gln1822Ter p.Q1822* ENST00000358273 38/58 63 34 28 25 25 0 NF1,stop_gained,p.Gln1822Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Gln1801Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Gln1467Ter,ENST00000456735,;NF1,stop_gained,p.Gln10Ter,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000479536,; T ENSG00000196712 ENST00000358273 Transcript stop_gained 5847/12425 5464/8520 1822/2839 Q/* Cag/Tag CM062903,COSM3515877,COSM3515876 1 1 NF1 HGNC HGNC:7765 protein_coding YES CCDS42292.1 ENSP00000351015 P21359 UPI000012FFAE NM_001042492.2 38/58 cd13313,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF60 0,1,1 HIGH 1 SNV 1 1,1,1 1 PASS CCA . . 31327694 DHX8 . GRCh38 chr17 43507018 43507018 + Nonsense_Mutation SNP C C T novel 7316-3022 BS_0KKH9VKP C C c.1744C>T p.Gln582Ter p.Q582* ENST00000262415 13/23 71 59 12 28 28 0 DHX8,stop_gained,p.Gln582Ter,ENST00000262415,NM_004941.2,NM_001322221.1,NM_001322217.1,NM_001322216.1;DHX8,stop_gained,p.Gln582Ter,ENST00000540306,NM_001302623.1,NM_001322218.1,NM_001322219.1,NM_001322220.1;DHX8,non_coding_transcript_exon_variant,,ENST00000587044,; T ENSG00000067596 ENST00000262415 Transcript stop_gained 1816/5558 1744/3663 582/1220 Q/* Cag/Tag 1 1 DHX8 HGNC HGNC:2749 protein_coding YES CCDS11464.1 ENSP00000262415 Q14562 UPI00001290D9 NM_004941.2,NM_001322221.1,NM_001322217.1,NM_001322216.1 13/23 PDB-ENSP_mappings:5mqf.q,PDB-ENSP_mappings:5xjc.Y,PROSITE_profiles:PS51192,cd00046,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF85,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540 HIGH 1 SNV 1 PASS TCA . . 43507018 ARHGAP27 . GRCh38 chr17 45429976 45429976 + Missense_Mutation SNP C C T novel 7316-3022 BS_0KKH9VKP C C c.304G>A p.Ala102Thr p.A102T ENST00000428638 1/17 74 36 36 32 30 0 ARHGAP27,missense_variant,p.Ala102Thr,ENST00000428638,NM_001282290.1;ARHGAP27,missense_variant,p.Ala102Thr,ENST00000532891,;ARHGAP27,missense_variant,p.Ala102Thr,ENST00000528273,;ARHGAP27,missense_variant,p.Ala102Thr,ENST00000290470,NM_174919.3;ARHGAP27,upstream_gene_variant,,ENST00000376922,NM_199282.2;ARHGAP27,non_coding_transcript_exon_variant,,ENST00000531735,;ARHGAP27,intron_variant,,ENST00000527678,;ARHGAP27,upstream_gene_variant,,ENST00000524404,; T ENSG00000159314 ENST00000428638 Transcript missense_variant 322/4242 304/2670 102/889 A/T Gcg/Acg 1 -1 ARHGAP27 HGNC HGNC:31813 protein_coding YES CCDS74082.1 ENSP00000403323 Q6ZUM4 UPI0001AE66DB NM_001282290.1 tolerated(0.5) benign(0.001) 1/17 hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF2 MODERATE 1 SNV 5 PASS GCC . . 45429976 TRIM37 . GRCh38 chr17 59056956 59056956 + Missense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.1118G>T p.Trp373Leu p.W373L ENST00000262294 13/24 72 62 10 33 31 0 TRIM37,missense_variant,p.Trp373Leu,ENST00000262294,NM_001320988.1,NM_015294.4,NM_001353083.1;TRIM37,missense_variant,p.Trp373Leu,ENST00000393066,NM_001320989.1,NM_001005207.3;TRIM37,missense_variant,p.Trp339Leu,ENST00000393065,NM_001320987.1,NM_001320990.1;TRIM37,downstream_gene_variant,,ENST00000581468,;RN7SL716P,upstream_gene_variant,,ENST00000580539,;TRIM37,3_prime_UTR_variant,,ENST00000577554,; A ENSG00000108395 ENST00000262294 Transcript missense_variant 1378/4330 1118/2895 373/964 W/L tGg/tTg 1 -1 TRIM37 HGNC HGNC:7523 protein_coding YES CCDS32694.1 ENSP00000262294 O94972 UPI0000167B57 NM_001320988.1,NM_015294.4,NM_001353083.1 deleterious(0.03) possibly_damaging(0.874) 13/24 Gene3D:2.60.210.10,Pfam_domain:PF00917,PROSITE_profiles:PS50144,hmmpanther:PTHR44469,SMART_domains:SM00061,Superfamily_domains:SSF49599,cd03773 MODERATE 1 SNV 1 1 PASS CCA . . 59056956 SAP30BP . GRCh38 chr17 75693466 75693466 + Missense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.291C>A p.Asp97Glu p.D97E ENST00000584667 4/11 72 65 6 26 26 0 SAP30BP,missense_variant,p.Asp97Glu,ENST00000584667,NM_013260.7;SAP30BP,missense_variant,p.Asp81Glu,ENST00000355423,NM_001301839.1;SAP30BP,missense_variant,p.Asp114Glu,ENST00000583536,NM_001301855.1;SAP30BP,missense_variant,p.Asp62Glu,ENST00000578909,;SAP30BP,5_prime_UTR_variant,,ENST00000584240,;SAP30BP,5_prime_UTR_variant,,ENST00000583063,;SAP30BP,non_coding_transcript_exon_variant,,ENST00000579864,;SAP30BP,non_coding_transcript_exon_variant,,ENST00000578354,;SAP30BP,missense_variant,p.Asp97Glu,ENST00000582022,;SAP30BP,missense_variant,p.Asp97Glu,ENST00000580322,;SAP30BP,missense_variant,p.Asp81Glu,ENST00000293208,;SAP30BP,missense_variant,p.Asp97Glu,ENST00000542343,;SAP30BP,3_prime_UTR_variant,,ENST00000579877,;SAP30BP,3_prime_UTR_variant,,ENST00000583737,;SAP30BP,non_coding_transcript_exon_variant,,ENST00000580601,;SAP30BP,non_coding_transcript_exon_variant,,ENST00000577292,;SAP30BP,non_coding_transcript_exon_variant,,ENST00000580484,;SAP30BP,downstream_gene_variant,,ENST00000578288,;SAP30BP,downstream_gene_variant,,ENST00000583170,;,regulatory_region_variant,,ENSR00000098430,; A ENSG00000161526 ENST00000584667 Transcript missense_variant 548/2722 291/927 97/308 D/E gaC/gaA 1 1 SAP30BP HGNC HGNC:30785 protein_coding YES CCDS11726.1 ENSP00000462116 Q9UHR5 A0A024R8R0 UPI0000072715 NM_013260.7 deleterious(0.01) possibly_damaging(0.824) 4/11 hmmpanther:PTHR13464,mobidb-lite MODERATE 1 SNV 1 PASS ACC . . 75693466 SAP30BP . GRCh38 chr17 75693467 75693467 + Missense_Mutation SNP C C A novel 7316-3022 BS_0KKH9VKP C C c.292C>A p.Pro98Thr p.P98T ENST00000584667 4/11 72 65 6 25 25 0 SAP30BP,missense_variant,p.Pro98Thr,ENST00000584667,NM_013260.7;SAP30BP,missense_variant,p.Pro82Thr,ENST00000355423,NM_001301839.1;SAP30BP,missense_variant,p.Pro115Thr,ENST00000583536,NM_001301855.1;SAP30BP,missense_variant,p.Pro63Thr,ENST00000578909,;SAP30BP,5_prime_UTR_variant,,ENST00000584240,;SAP30BP,5_prime_UTR_variant,,ENST00000583063,;SAP30BP,non_coding_transcript_exon_variant,,ENST00000579864,;SAP30BP,non_coding_transcript_exon_variant,,ENST00000578354,;SAP30BP,missense_variant,p.Pro98Thr,ENST00000582022,;SAP30BP,missense_variant,p.Pro98Thr,ENST00000580322,;SAP30BP,missense_variant,p.Pro82Thr,ENST00000293208,;SAP30BP,missense_variant,p.Pro98Thr,ENST00000542343,;SAP30BP,3_prime_UTR_variant,,ENST00000579877,;SAP30BP,3_prime_UTR_variant,,ENST00000583737,;SAP30BP,non_coding_transcript_exon_variant,,ENST00000580601,;SAP30BP,non_coding_transcript_exon_variant,,ENST00000577292,;SAP30BP,non_coding_transcript_exon_variant,,ENST00000580484,;SAP30BP,downstream_gene_variant,,ENST00000578288,;SAP30BP,downstream_gene_variant,,ENST00000583170,;,regulatory_region_variant,,ENSR00000098430,; A ENSG00000161526 ENST00000584667 Transcript missense_variant 549/2722 292/927 98/308 P/T Ccc/Acc 1 1 SAP30BP HGNC HGNC:30785 protein_coding YES CCDS11726.1 ENSP00000462116 Q9UHR5 A0A024R8R0 UPI0000072715 NM_013260.7 deleterious(0) possibly_damaging(0.702) 4/11 hmmpanther:PTHR13464,mobidb-lite MODERATE 1 SNV 1 PASS CCC . . 75693467 QRICH2 . GRCh38 chr17 76292181 76292181 + Missense_Mutation SNP T T C rs3826286 7316-3022 BS_0KKH9VKP T T c.2048A>G p.His683Arg p.H683R ENST00000262765 4/19 107 89 13 31 28 0 QRICH2,missense_variant,p.His849Arg,ENST00000636395,;QRICH2,missense_variant,p.His683Arg,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; C ENSG00000129646 ENST00000262765 Transcript missense_variant 2228/5357 2048/4992 683/1663 H/R cAt/cGt rs3826286,COSM5654343 1 -1 QRICH2 HGNC HGNC:25326 protein_coding YES CCDS32741.1 ENSP00000262765 Q9H0J4 UPI000006FECD NM_032134.2 tolerated(0.38) benign(0) 4/19 0.4766 0.7095 0.3184 0.5724 0.2783 0.3793 0.6645 0.2955 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 76292181 CARD14 . GRCh38 chr17 80189840 80189840 + Missense_Mutation SNP C C T rs145167842 7316-3022 BS_0KKH9VKP C C c.931C>T p.Arg311Trp p.R311W ENST00000573882 8/23 77 48 29 27 27 0 CARD14,missense_variant,p.Arg311Trp,ENST00000573882,;CARD14,missense_variant,p.Arg311Trp,ENST00000344227,NM_024110.4;CARD14,missense_variant,p.Arg311Trp,ENST00000570421,NM_001257970.1;CARD14,non_coding_transcript_exon_variant,,ENST00000573754,;CARD14,upstream_gene_variant,,ENST00000574148,;CARD14,missense_variant,p.Arg311Trp,ENST00000575500,;CARD14,missense_variant,p.Arg108Trp,ENST00000571450,NM_052819.2;CARD14,non_coding_transcript_exon_variant,,ENST00000571861,;CARD14,downstream_gene_variant,,ENST00000572838,;CARD14,upstream_gene_variant,,ENST00000575666,; T ENSG00000141527 ENST00000573882 Transcript missense_variant 1467/4537 931/3015 311/1004 R/W Cgg/Tgg rs145167842,COSM4994779,COSM4994778 1 1 CARD14 HGNC HGNC:16446 protein_coding YES CCDS11768.1 ENSP00000458715 Q9BXL6 UPI000013D81B deleterious(0) possibly_damaging(0.732) 8/23 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559:SF1,hmmpanther:PTHR14559 benign 0,1,1 MODERATE 1 SNV 5 1,1,1 1 PASS GCG . . 0.0001319 0.0002498 0.001115 9.869e-05 0.0004167 80189840 TEPSIN . GRCh38 chr17 81229257 81229257 + Missense_Mutation SNP T T G rs761569820 7316-3022 BS_0KKH9VKP T T c.1249A>C p.Thr417Pro p.T417P ENST00000300714 12/12 52 30 16 32 29 2 TEPSIN,missense_variant,p.Thr417Pro,ENST00000300714,NM_144679.2;TEPSIN,missense_variant,p.Thr485Pro,ENST00000637944,;TEPSIN,downstream_gene_variant,,ENST00000571094,;AC027601.1,non_coding_transcript_exon_variant,,ENST00000575922,;AC027601.1,upstream_gene_variant,,ENST00000569559,;TEPSIN,3_prime_UTR_variant,,ENST00000571115,;TEPSIN,non_coding_transcript_exon_variant,,ENST00000576090,;TEPSIN,non_coding_transcript_exon_variant,,ENST00000573295,;TEPSIN,downstream_gene_variant,,ENST00000570854,;TEPSIN,downstream_gene_variant,,ENST00000574944,; G ENSG00000167302 ENST00000300714 Transcript missense_variant 1307/2287 1249/1578 417/525 T/P Acc/Ccc rs761569820,COSM4667057,COSM4667056 1 -1 TEPSIN HGNC HGNC:26458 protein_coding YES CCDS11779.1 ENSP00000300714 Q96N21 UPI0000071221 NM_144679.2 tolerated(0.35) benign(0) 12/12 hmmpanther:PTHR21514,hmmpanther:PTHR21514:SF0,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GTG . . 0.009185 0.0113 0.01248 0.008624 0.01142 0.003887 0.008088 0.01163 0.01269 81229257 PSMA8 . GRCh38 chr18 26144568 26144568 + Nonsense_Mutation SNP C C T rs376403017 7316-3022 BS_0KKH9VKP C C c.112C>T p.Arg38Ter p.R38* ENST00000308268 2/7 139 123 12 24 24 0 PSMA8,stop_gained,p.Arg38Ter,ENST00000308268,NM_144662.2;PSMA8,stop_gained,p.Arg38Ter,ENST00000343848,NM_001025097.1;PSMA8,stop_gained,p.Arg12Ter,ENST00000612461,NM_001308188.1;PSMA8,stop_gained,p.Arg38Ter,ENST00000415576,NM_001025096.1;PSMA8,synonymous_variant,p.Phe59=,ENST00000538664,; T ENSG00000154611 ENST00000308268 Transcript stop_gained 201/1804 112/771 38/256 R/* Cga/Tga rs376403017,COSM183096 1 1 PSMA8 HGNC HGNC:22985 protein_coding YES CCDS32808.1 ENSP00000311121 Q8TAA3 UPI000013ECFF NM_144662.2 2/7 Gene3D:3.60.20.10,Pfam_domain:PF00227,PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF47,Superfamily_domains:SSF56235,cd03755 0,1 HIGH 1 SNV 1 0,1 PASS TCG . . 2.033e-05 0.00029 26144568 MED16 . GRCh38 chr19 875275 875279 + Frame_Shift_Del DEL CAGCC CAGCC - rs1428907591 7316-3022 BS_0KKH9VKP CAGCC CAGCC c.1736_1740del p.Arg579HisfsTer13 p.R579Hfs*13 ENST00000325464 10/16 57 44 9 26 24 0 MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000395808,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000312090,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000325464,NM_005481.2;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000589119,;MED16,frameshift_variant,p.Arg333HisfsTer13,ENST00000607471,;MED16,frameshift_variant,p.Arg510HisfsTer13,ENST00000592943,;MED16,frameshift_variant,p.Arg435HisfsTer13,ENST00000586017,;MED16,frameshift_variant,p.Arg167HisfsTer13,ENST00000606828,;MED16,intron_variant,,ENST00000269814,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,upstream_gene_variant,,ENST00000621073,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000606248,;,regulatory_region_variant,,ENSR00000105561,; - ENSG00000175221 ENST00000325464 Transcript frameshift_variant 1887-1891/2922 1736-1740/2634 579-580/877 RL/X cGGCTG/c rs1428907591,COSM1724576 1 -1 MED16 HGNC HGNC:17556 protein_coding YES CCDS12047.1 ENSP00000325612 Q9Y2X0 UPI0000141671 NM_005481.2 10/16 Pfam_domain:PF11635,hmmpanther:PTHR13224 0,1 HIGH 1 deletion 5 0,1 PASS GTCAGCCG . . 0.00176 0.003278 0.002615 0.00159 0.002705 0.0001441 0.001357 0.002191 0.002236 875274 TLE2 . GRCh38 chr19 3008941 3008941 + Missense_Mutation SNP G G T rs1339547974 7316-3022 BS_0KKH9VKP G G c.1181C>A p.Ala394Glu p.A394E ENST00000590536 14/20 57 45 12 25 25 0 TLE2,missense_variant,p.Ala393Glu,ENST00000262953,NM_003260.4;TLE2,missense_variant,p.Ala407Glu,ENST00000591529,NM_001144761.1;TLE2,missense_variant,p.Ala407Glu,ENST00000426948,;TLE2,missense_variant,p.Ala394Glu,ENST00000590536,NM_001300846.1;TLE2,missense_variant,p.Ala271Glu,ENST00000455444,;TLE2,missense_variant,p.Ala271Glu,ENST00000443826,NM_001144762.1;TLE2,missense_variant,p.Ala42Glu,ENST00000589364,;TLE2,intron_variant,,ENST00000586422,;TLE2,downstream_gene_variant,,ENST00000591457,;TLE2,upstream_gene_variant,,ENST00000586492,;TLE2,downstream_gene_variant,,ENST00000587217,;TLE2,downstream_gene_variant,,ENST00000589205,;TLE2,downstream_gene_variant,,ENST00000587672,; T ENSG00000065717 ENST00000590536 Transcript missense_variant 1290/2344 1181/2235 394/744 A/E gCa/gAa rs1339547974 1 -1 TLE2 HGNC HGNC:11838 protein_coding YES CCDS74255.1 ENSP00000466542 K7EMK7 UPI0000203012 NM_001300846.1 deleterious(0.03) possibly_damaging(0.753) 14/20 hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF4 MODERATE 1 SNV 1 PASS TGC . . 4.812e-06 3.883e-05 3008941 MAP4K1 . GRCh38 chr19 38608029 38608029 + Missense_Mutation SNP C C T rs529903264 7316-3022 BS_0KKH9VKP C C c.1070G>A p.Arg357His p.R357H ENST00000591517 15/32 43 28 12 25 23 0 MAP4K1,missense_variant,p.Arg357His,ENST00000591517,NM_007181.5;MAP4K1,missense_variant,p.Arg353His,ENST00000589130,;MAP4K1,missense_variant,p.Arg357His,ENST00000396857,NM_001042600.2;MAP4K1,missense_variant,p.Arg35His,ENST00000591921,;MAP4K1,intron_variant,,ENST00000586296,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000589002,;MAP4K1,3_prime_UTR_variant,,ENST00000585583,;MAP4K1,downstream_gene_variant,,ENST00000591707,;MAP4K1,downstream_gene_variant,,ENST00000592888,; T ENSG00000104814 ENST00000591517 Transcript missense_variant 1099/2700 1070/2502 357/833 R/H cGc/cAc rs529903264 1 -1 MAP4K1 HGNC HGNC:6863 protein_coding YES CCDS59385.1 ENSP00000465039 Q92918 UPI00000747ED NM_007181.5 tolerated(0.64) benign(0) 15/32 Gene3D:1.10.510.10,PIRSF_domain:PIRSF038172,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF88,mobidb-lite 0.0002 0.001 MODERATE 1 SNV 1 PASS GCG . . 5.984e-05 0.0004777 38608029 CEACAM5 . GRCh38 chr19 41708742 41708742 + Missense_Mutation SNP C C A 7316-3022 BS_0KKH9VKP C C c.11C>A p.Pro4His p.P4H ENST00000221992 1/10 57 47 9 30 29 0 CEACAM5,missense_variant,p.Pro4His,ENST00000221992,NM_004363.5,NM_001291484.2;CEACAM5,missense_variant,p.Pro4His,ENST00000398599,NM_001308398.1;CEACAM5,missense_variant,p.Pro4His,ENST00000405816,;CEACAM5,missense_variant,p.Pro4His,ENST00000617332,;CEACAM5,missense_variant,p.Pro4His,ENST00000615021,;CEACAM5,missense_variant,p.Pro4His,ENST00000616453,;AC243967.1,missense_variant,p.Pro4His,ENST00000598976,;AC243967.1,missense_variant,p.Pro4His,ENST00000435837,;CEACAM5,upstream_gene_variant,,ENST00000595113,;CEACAM5,upstream_gene_variant,,ENST00000595403,;CEACAM7,upstream_gene_variant,,ENST00000599715,;CEACAM5,non_coding_transcript_exon_variant,,ENST00000596606,;CEACAM5,non_coding_transcript_exon_variant,,ENST00000460121,; A ENSG00000105388 ENST00000221992 Transcript missense_variant 125/2874 11/2109 4/702 P/H cCc/cAc COSM5389877 1 1 CEACAM5 HGNC HGNC:1817 protein_coding YES CCDS12584.1 ENSP00000221992 P06731 UPI000003AE4C NM_004363.5,NM_001291484.2 tolerated(0.06) probably_damaging(0.987) 1/10 hmmpanther:PTHR44337,hmmpanther:PTHR44337:SF1,Cleavage_site_(Signalp):SignalP-noTM 1 MODERATE 1 SNV 1 1 PASS CCC . . 41708742 MEGF8 . GRCh38 chr19 42356914 42356914 + Missense_Mutation SNP C C T rs753919019 7316-3022 BS_0KKH9VKP C C c.4763C>T p.Thr1588Ile p.T1588I ENST00000251268 27/42 52 41 9 44 44 0 MEGF8,missense_variant,p.Thr1521Ile,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Thr1588Ile,ENST00000251268,NM_001271938.1;MEGF8,5_prime_UTR_variant,,ENST00000378073,;MEGF8,upstream_gene_variant,,ENST00000598762,;MEGF8,downstream_gene_variant,,ENST00000593840,; T ENSG00000105429 ENST00000251268 Transcript missense_variant 4763/9549 4763/8538 1588/2845 T/I aCc/aTc rs753919019 1 1 MEGF8 HGNC HGNC:3233 protein_coding YES CCDS62693.1 ENSP00000251268 Q7Z7M0 UPI00005788D1 NM_001271938.1 deleterious(0) probably_damaging(0.998) 27/42 Gene3D:2.130.10.80,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287,Superfamily_domains:SSF117281 MODERATE 1 SNV 5 1 PASS ACC . . 42356914 SRRM5 . GRCh38 chr19 43613451 43613451 + Missense_Mutation SNP T T A rs201848853 7316-3022 BS_0KKH9VKP T T c.1330T>A p.Tyr444Asn p.Y444N ENST00000607544 3/3 62 51 8 26 24 1 SRRM5,missense_variant,p.Tyr444Asn,ENST00000607544,;SRRM5,missense_variant,p.Tyr444Asn,ENST00000417606,NM_001145641.1;ZNF428,intron_variant,,ENST00000300811,NM_182498.3;ZNF428,intron_variant,,ENST00000598676,;ZNF428,downstream_gene_variant,,ENST00000595304,; A ENSG00000226763 ENST00000607544 Transcript missense_variant 1652/2698 1330/2148 444/715 Y/N Tac/Aac rs201848853,COSM5956593,COSM474846 1 1 SRRM5 HGNC HGNC:37248 protein_coding YES CCDS46095.1 ENSP00000476253 B3KS81 UPI000059D73E tolerated(0.15) benign(0) 3/3 hmmpanther:PTHR39414,mobidb-lite 0.0050 0.0083 0.0058 0.006 0.004 0,1,1 MODERATE SNV 2 0,1,1 PASS CTA . . 0.0009556 0.002277 0.001499 0.0005267 0.002113 0.0007917 0.001234 43613451 ZNF112 . GRCh38 chr19 44329243 44329244 + Frame_Shift_Del DEL TC TC - novel 7316-3022 BS_0KKH9VKP TC TC c.931_932del p.Asp311Ter p.D311* ENST00000337401 5/5 60 36 16 31 31 0 ZNF112,frameshift_variant,p.Asp305Ter,ENST00000354340,NM_013380.3,NM_001348282.1,NM_001348285.1,NM_001348281.1,NM_001348283.1,NM_001348284.1;ZNF112,frameshift_variant,p.Asp311Ter,ENST00000337401,NM_001083335.1;ZNF112,downstream_gene_variant,,ENST00000587909,;ZNF112,downstream_gene_variant,,ENST00000588057,;AC245748.1,downstream_gene_variant,,ENST00000588212,;ZNF112,downstream_gene_variant,,ENST00000590687,;ZNF112,downstream_gene_variant,,ENST00000592151,; - ENSG00000062370 ENST00000337401 Transcript frameshift_variant 1020-1021/3321 931-932/2742 311/913 D/X GAt/t 1 -1 ZNF112 HGNC HGNC:12892 protein_coding YES CCDS54276.1 ENSP00000337081 Q9UJU3 UPI000006EC70 NM_001083335.1 5/5 Gene3D:3.30.160.60 HIGH 1 deletion 1 PASS CATCT . . 44329242 SYMPK . GRCh38 chr19 45842289 45842289 + Missense_Mutation SNP G G A rs774226899 7316-3022 BS_0KKH9VKP G G c.1048C>T p.Arg350Cys p.R350C ENST00000245934 9/27 81 66 15 37 37 0 SYMPK,missense_variant,p.Arg350Cys,ENST00000599814,;SYMPK,missense_variant,p.Arg350Cys,ENST00000599460,;SYMPK,missense_variant,p.Arg350Cys,ENST00000245934,NM_004819.2;SYMPK,non_coding_transcript_exon_variant,,ENST00000596518,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593899,;SYMPK,missense_variant,p.Arg350Cys,ENST00000600237,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598896,;SYMPK,non_coding_transcript_exon_variant,,ENST00000601582,; A ENSG00000125755 ENST00000245934 Transcript missense_variant 1293/4195 1048/3825 350/1274 R/C Cgc/Tgc rs774226899 1 -1 SYMPK HGNC HGNC:22935 protein_coding YES CCDS12676.2 ENSP00000245934 Q92797 A0A024R0R6 UPI00002026C0 NM_004819.2 deleterious(0) probably_damaging(0.926) 9/27 Gene3D:1.25.10.10,hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20,mobidb-lite MODERATE 1 SNV 1 PASS CGG . . 4.062e-06 8.958e-06 45842289 SLC17A7 . GRCh38 chr19 49431114 49431131 + In_Frame_Del DEL GGCTATGTCCAGGTGGTT GGCTATGTCCAGGTGGTT - novel 7316-3022 BS_0KKH9VKP GGCTATGTCCAGGTGGTT GGCTATGTCCAGGTGGTT c.1273_1290del p.Asn425_Ala430del p.N425_A430del ENST00000221485 11/12 63 51 10 26 26 0 SLC17A7,inframe_deletion,p.Asn425_Ala430del,ENST00000221485,NM_020309.3;SLC17A7,inframe_deletion,p.Asn358_Ala363del,ENST00000600601,;GFY,downstream_gene_variant,,ENST00000576655,;GFY,downstream_gene_variant,,ENST00000610896,NM_001195256.1;SLC17A7,non_coding_transcript_exon_variant,,ENST00000600672,;SLC17A7,downstream_gene_variant,,ENST00000596689,;SLC17A7,downstream_gene_variant,,ENST00000598018,;,regulatory_region_variant,,ENSR00000288877,; - ENSG00000104888 ENST00000221485 Transcript inframe_deletion 1445-1462/2973 1273-1290/1683 425-430/560 NHLDIA/- AACCACCTGGACATAGCC/- 1 -1 SLC17A7 HGNC HGNC:16704 protein_coding YES CCDS12764.1 ENSP00000221485 Q9P2U7 UPI000006F6B8 NM_020309.3 11/12 PROSITE_profiles:PS50850,cd06174,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF138,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473 MODERATE 1 deletion 1 PASS GGGGCTATGTCCAGGTGGTTC . . 49431113 PTPRH . GRCh38 chr19 55205463 55205463 + Missense_Mutation SNP C C T 7316-3022 BS_0KKH9VKP C C c.482G>A p.Gly161Asp p.G161D ENST00000376350 4/20 53 38 14 28 28 0 PTPRH,missense_variant,p.Gly161Asp,ENST00000376350,NM_002842.4;PTPRH,intron_variant,,ENST00000263434,NM_001161440.2;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;PTPRH,non_coding_transcript_exon_variant,,ENST00000586852,;PTPRH,non_coding_transcript_exon_variant,,ENST00000586310,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588370,;PTPRH,downstream_gene_variant,,ENST00000587662,; T ENSG00000080031 ENST00000376350 Transcript missense_variant 505/3877 482/3348 161/1115 G/D gGc/gAc COSM1494433 1 -1 PTPRH HGNC HGNC:9672 protein_coding YES CCDS33110.1 ENSP00000365528 Q9HD43 UPI000052D443 NM_002842.4 tolerated(0.44) benign(0.023) 4/20 cd00063,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265,PROSITE_profiles:PS50853,hmmpanther:PTHR19134:SF297,hmmpanther:PTHR19134:SF297,hmmpanther:PTHR19134,hmmpanther:PTHR19134 1 MODERATE 1 SNV 1 1 PASS GCC . . 55205463 ZNF586 . GRCh38 chr19 57779762 57779762 + Missense_Mutation SNP A A T novel 7316-3022 BS_0KKH9VKP A A c.1175A>T p.Gln392Leu p.Q392L ENST00000396154 3/3 77 56 21 26 26 0 ZNF586,missense_variant,p.Gln349Leu,ENST00000391702,NM_001204814.1;ZNF586,missense_variant,p.Gln392Leu,ENST00000396154,NM_017652.3;ZNF586,3_prime_UTR_variant,,ENST00000396150,NM_001077426.2;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000598885,;ZNF586,intron_variant,,ENST00000599802,; T ENSG00000083828 ENST00000396154 Transcript missense_variant 1348/2163 1175/1209 392/402 Q/L cAg/cTg 1 1 ZNF586 HGNC HGNC:25949 protein_coding YES CCDS42640.1 ENSP00000379458 Q9NXT0 UPI0000202D48 NM_017652.3 deleterious(0.04) benign(0.029) 3/3 Low_complexity_(Seg):seg,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF708,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CAG . . 57779762 PTGIS . GRCh38 chr20 49524182 49524182 + Missense_Mutation SNP G G A novel 7316-3022 BS_0KKH9VKP G G c.731C>T p.Ala244Val p.A244V ENST00000244043 6/10 82 68 12 34 33 0 PTGIS,missense_variant,p.Ala244Val,ENST00000244043,NM_000961.3;PTGIS,non_coding_transcript_exon_variant,,ENST00000478971,;,regulatory_region_variant,,ENSR00000298810,; A ENSG00000124212 ENST00000244043 Transcript missense_variant 761/5579 731/1503 244/500 A/V gCc/gTc 1 -1 PTGIS HGNC HGNC:9603 protein_coding YES CCDS13419.1 ENSP00000244043 Q16647 UPI00001328DF NM_000961.3 tolerated(0.19) benign(0.084) 6/10 PDB-ENSP_mappings:2iag.A,PDB-ENSP_mappings:2iag.B,PDB-ENSP_mappings:3b6h.A,PDB-ENSP_mappings:3b6h.B,hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF4,PIRSF_domain:PIRSF500628,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Superfamily_domains:SSF48264 MODERATE 1 SNV 1 1 PASS GGC . . 49524182 TMPRSS2 . GRCh38 chr21 41494539 41494539 + Nonsense_Mutation SNP C C A 7316-3022 BS_0KKH9VKP C C c.166G>T p.Gly56Ter p.G56* ENST00000398585 3/14 50 37 12 29 28 0 TMPRSS2,stop_gained,p.Gly56Ter,ENST00000398585,NM_001135099.1;TMPRSS2,stop_gained,p.Gly19Ter,ENST00000332149,NM_005656.3;TMPRSS2,stop_gained,p.Gly19Ter,ENST00000454499,;TMPRSS2,stop_gained,p.Gly19Ter,ENST00000458356,;TMPRSS2,stop_gained,p.Gly19Ter,ENST00000424093,;TMPRSS2,stop_gained,p.Gly19Ter,ENST00000455813,;TMPRSS2,intron_variant,,ENST00000463138,;TMPRSS2,intron_variant,,ENST00000497881,; A ENSG00000184012 ENST00000398585 Transcript stop_gained 227/3240 166/1590 56/529 G/* Gga/Tga COSM6094610,COSM6094609 1 -1 TMPRSS2 HGNC HGNC:11876 protein_coding YES CCDS54486.1 ENSP00000381588 O15393 UPI00019D3EE0 NM_001135099.1 3/14 hmmpanther:PTHR44647 1,1 HIGH 1 SNV 2 1,1 1 PASS CCA . . 41494539 MED15 . GRCh38 chr22 20507700 20507700 + Missense_Mutation SNP A A G novel 7316-3022 BS_0KKH9VKP A A c.22A>G p.Thr8Ala p.T8A ENST00000263205 1/18 97 79 17 29 27 0 MED15,missense_variant,p.Thr8Ala,ENST00000263205,NM_001003891.2;MED15,missense_variant,p.Thr8Ala,ENST00000292733,NM_001293234.1,NM_015889.4;MED15,missense_variant,p.Thr8Ala,ENST00000382974,NM_001293236.1;MED15,5_prime_UTR_variant,,ENST00000406969,NM_001293237.1,NM_001293235.1;MED15,5_prime_UTR_variant,,ENST00000414658,;MED15,5_prime_UTR_variant,,ENST00000432052,;MED15,intron_variant,,ENST00000445987,;MED15,upstream_gene_variant,,ENST00000438962,;MED15,non_coding_transcript_exon_variant,,ENST00000477824,;MED15,missense_variant,p.Thr8Ala,ENST00000433831,;MED15,missense_variant,p.Thr8Ala,ENST00000444094,;MED15,non_coding_transcript_exon_variant,,ENST00000486656,;MED15,upstream_gene_variant,,ENST00000441501,;,regulatory_region_variant,,ENSR00000143904,; G ENSG00000099917 ENST00000263205 Transcript missense_variant 91/3351 22/2367 8/788 T/A Acc/Gcc 1 1 MED15 HGNC HGNC:14248 protein_coding YES CCDS33602.1 ENSP00000263205 Q96RN5 UPI00001313C4 NM_001003891.2 deleterious(0.04) benign(0) 1/18 Gene3D:1.10.246.20,hmmpanther:PTHR31804 MODERATE 1 SNV 1 PASS GAC . . 20507700 MIEF1 . GRCh38 chr22 39514205 39514205 + Missense_Mutation SNP C C T novel 7316-3022 BS_0KKH9VKP C C c.1274C>T p.Pro425Leu p.P425L ENST00000402881 6/7 56 50 6 23 23 0 MIEF1,missense_variant,p.Pro425Leu,ENST00000325301,NM_019008.5;MIEF1,missense_variant,p.Pro425Leu,ENST00000404569,;MIEF1,missense_variant,p.Pro425Leu,ENST00000402881,NM_001304564.1;MIEF1,downstream_gene_variant,,ENST00000434364,;MIEF1,3_prime_UTR_variant,,ENST00000433117,;MIEF1,downstream_gene_variant,,ENST00000428069,; T ENSG00000100335 ENST00000402881 Transcript missense_variant 1771/2269 1274/1437 425/478 P/L cCc/cTc 1 1 MIEF1 HGNC HGNC:25979 protein_coding YES CCDS77678.1 ENSP00000385110 B0QY95 UPI000013C6CC NM_001304564.1 tolerated(0.05) probably_damaging(0.911) 6/7 Pfam_domain:PF03281,hmmpanther:PTHR16451,hmmpanther:PTHR16451:SF12,SMART_domains:SM01265 MODERATE 1 SNV 1 PASS CCC . . 39514205 CYP2D6 . GRCh38 chr22 42128818 42128819 + Frame_Shift_Ins INS - - C rs763609904 7316-3022 BS_0KKH9VKP - - c.631dup p.Glu211GlyfsTer43 p.E211Gfs*43 ENST00000360608 4/9 64 56 5 34 34 0 CYP2D6,frameshift_variant,p.Glu189GlyfsTer43,ENST00000389970,;CYP2D6,frameshift_variant,p.Glu211GlyfsTer43,ENST00000360608,;CYP2D6,frameshift_variant,p.Glu211GlyfsTer43,ENST00000645508,NM_000106.5;CYP2D6,frameshift_variant,p.Glu211GlyfsTer43,ENST00000645361,;CYP2D6,frameshift_variant,p.Glu160GlyfsTer43,ENST00000359033,NM_001025161.2;NDUFA6-DT,intron_variant,,ENST00000439129,;NDUFA6-DT,downstream_gene_variant,,ENST00000417327,;NDUFA6-DT,downstream_gene_variant,,ENST00000434834,;NDUFA6-DT,downstream_gene_variant,,ENST00000451451,;NDUFA6-DT,downstream_gene_variant,,ENST00000536447,;NDUFA6-DT,downstream_gene_variant,,ENST00000595777,;NDUFA6-DT,downstream_gene_variant,,ENST00000600968,;NDUFA6-DT,downstream_gene_variant,,ENST00000610250,;NDUFA6-DT,upstream_gene_variant,,ENST00000617009,;NDUFA6-DT,downstream_gene_variant,,ENST00000617396,;NDUFA6-DT,upstream_gene_variant,,ENST00000621190,;CYP2D6,frameshift_variant,p.Glu100GlyfsTer43,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-DT,downstream_gene_variant,,ENST00000547929,;NDUFA6-DT,downstream_gene_variant,,ENST00000608643,;NDUFA6-DT,downstream_gene_variant,,ENST00000609499,;NDUFA6-DT,downstream_gene_variant,,ENST00000609833,;AC254562.1,upstream_gene_variant,,ENST00000417586,; C ENSG00000100197 ENST00000360608 Transcript frameshift_variant 746-747/1684 631-632/1494 211/497 E/GX gag/gGag rs763609904 1 -1 CYP2D6 HGNC HGNC:2625 protein_coding YES CCDS46721.1 ENSP00000353820 P10635 C1ID52 UPI000015772B 4/9 hmmpanther:PTHR24300:SF1,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264 0.00188 0.003637 HIGH 1 insertion 1 1 PASS CTC . . 0.0005976 0.0002099 0.0003307 0.0002074 0.001175 0.0003655 0.0008539 0.0003737 0.0001662 42128818 FAM199X . GRCh38 chrX 104175625 104175625 + Nonsense_Mutation SNP G G A 7316-3022 BS_0KKH9VKP G G c.200G>A p.Trp67Ter p.W67* ENST00000493442 2/6 35 19 16 16 16 0 FAM199X,stop_gained,p.Trp67Ter,ENST00000493442,NM_207318.3; A ENSG00000123575 ENST00000493442 Transcript stop_gained,splice_region_variant 366/7457 200/1167 67/388 W/* tGg/tAg COSM5411610 1 1 FAM199X HGNC HGNC:25195 protein_coding YES CCDS35364.1 ENSP00000417581 Q6PEV8 B0QYU2 UPI00001C2069 NM_207318.3 2/6 Pfam_domain:PF15814,hmmpanther:PTHR32003 1 HIGH 1 SNV 1 1 PASS TGG . . 104175625 COL4A6 . GRCh38 chrX 108178676 108178676 + Splice_Region SNP G G T novel 7316-3022 BS_0KKH9VKP G G c.2566+8C>A ENST00000394872 31 12 19 18 18 0 COL4A6,splice_region_variant,,ENST00000334504,NM_033641.3;COL4A6,splice_region_variant,,ENST00000372216,NM_001847.3;COL4A6,splice_region_variant,,ENST00000394872,NM_001287758.1;COL4A6,splice_region_variant,,ENST00000538570,NM_001287760.1;COL4A6,splice_region_variant,,ENST00000545689,;COL4A6,splice_region_variant,,ENST00000621266,NM_001287759.1; T ENSG00000197565 ENST00000394872 Transcript splice_region_variant,intron_variant 1 -1 COL4A6 HGNC HGNC:2208 protein_coding YES CCDS76010.1 ENSP00000378340 A8MXH5 UPI000387C996 NM_001287758.1 28/45 LOW 1 SNV 5 1 PASS AGG . . 108178676 OR6P1 . GRCh38 chr1 158563546 158563546 + Missense_Mutation SNP G G A rs776951618 7316-153 BS_TDN8NVYJ G G c.59C>T p.Thr20Met p.T20M ENST00000641540 3/3 102 87 15 38 38 0 OR6P1,missense_variant,p.Thr20Met,ENST00000641540,;OR6P1,missense_variant,p.Thr20Met,ENST00000334632,NM_001160325.1; A ENSG00000186440 ENST00000641540 Transcript missense_variant 315/3255 59/954 20/317 T/M aCg/aTg rs776951618,COSM88154 1 -1 OR6P1 HGNC HGNC:15036 protein_coding YES CCDS53391.1 ENSP00000492936 Q8NGX9 A0A126GV72 UPI000004B1FF tolerated(0.23) benign(0.092) 3/3 Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Superfamily_domains:SSF81321,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 0,1 PASS CGT . . 4.628e-05 4.215e-05 0.0001969 3.441e-05 8.8e-05 158563546 TNN . GRCh38 chr1 175118659 175118659 + Missense_Mutation SNP G G A novel 7316-153 BS_TDN8NVYJ G G c.2485G>A p.Val829Met p.V829M ENST00000239462 11/19 125 114 11 48 45 0 TNN,missense_variant,p.Val829Met,ENST00000239462,NM_022093.1;TNN,missense_variant,p.Val652Met,ENST00000621086,;TNN,missense_variant,p.Val652Met,ENST00000622870,; A ENSG00000120332 ENST00000239462 Transcript missense_variant 2598/5008 2485/3900 829/1299 V/M Gtg/Atg 1 1 TNN HGNC HGNC:22942 protein_coding YES CCDS30943.1 ENSP00000239462 Q9UQP3 UPI00001D7DA9 NM_022093.1 deleterious(0) probably_damaging(0.999) 11/19 Gene3D:2.40.300.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF334,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 MODERATE 1 SNV 2 PASS GGT . . 175118659 XDH . GRCh38 chr2 31383775 31383775 + Missense_Mutation SNP G G A rs769203054 7316-153 BS_TDN8NVYJ G G c.866C>T p.Ser289Leu p.S289L ENST00000379416 10/36 100 60 39 33 33 0 XDH,missense_variant,p.Ser289Leu,ENST00000379416,NM_000379.3;XDH,non_coding_transcript_exon_variant,,ENST00000491727,;XDH,non_coding_transcript_exon_variant,,ENST00000476043,;,regulatory_region_variant,,ENSR00000114917,; A ENSG00000158125 ENST00000379416 Transcript missense_variant 915/5688 866/4002 289/1333 S/L tCg/tTg rs769203054,COSM1020134 1 -1 XDH HGNC HGNC:12805 protein_coding YES CCDS1775.1 ENSP00000368727 P47989 UPI0000036BC9 NM_000379.3 tolerated(0.54) benign(0.031) 10/36 PDB-ENSP_mappings:2ckj.A,PDB-ENSP_mappings:2ckj.B,PDB-ENSP_mappings:2ckj.C,PDB-ENSP_mappings:2ckj.D,PDB-ENSP_mappings:2e1q.A,PDB-ENSP_mappings:2e1q.B,PDB-ENSP_mappings:2e1q.C,PDB-ENSP_mappings:2e1q.D,Gene3D:3.30.465.10,Pfam_domain:PF00941,PIRSF_domain:PIRSF000127,PROSITE_profiles:PS51387,hmmpanther:PTHR11908,hmmpanther:PTHR11908:SF80,Superfamily_domains:SSF56176,TIGRFAM_domain:TIGR02963 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGA . . 3.658e-05 0.0002244 2.687e-05 3.257e-05 31383775 PSME4 . GRCh38 chr2 53908358 53908358 + Missense_Mutation SNP T T C novel 7316-153 BS_TDN8NVYJ T T c.2746A>G p.Lys916Glu p.K916E ENST00000404125 24/47 57 32 25 35 35 0 PSME4,missense_variant,p.Lys916Glu,ENST00000404125,NM_014614.2;PSME4,3_prime_UTR_variant,,ENST00000389993,;PSME4,non_coding_transcript_exon_variant,,ENST00000461810,; C ENSG00000068878 ENST00000404125 Transcript missense_variant 2802/7099 2746/5532 916/1843 K/E Aaa/Gaa 1 -1 PSME4 HGNC HGNC:20635 protein_coding YES CCDS33197.2 ENSP00000384211 Q14997 UPI0000F3BE4A NM_014614.2 deleterious(0) probably_damaging(0.962) 24/47 Gene3D:1.25.10.10,hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF3 MODERATE 1 SNV 1 PASS TTC . . 53908358 CHN1 . GRCh38 chr2 174918546 174918546 + Missense_Mutation SNP T T A novel 7316-153 BS_TDN8NVYJ T T c.134A>T p.Tyr45Phe p.Y45F ENST00000409900 4/13 80 66 14 27 27 0 CHN1,missense_variant,p.Tyr45Phe,ENST00000409900,NM_001822.5;CHN1,missense_variant,p.Tyr45Phe,ENST00000409156,NM_001025201.3;CHN1,non_coding_transcript_exon_variant,,ENST00000488080,;CHN1,intron_variant,,ENST00000469597,;CHN1,3_prime_UTR_variant,,ENST00000451799,;CHN1,intron_variant,,ENST00000425395,;CHN1,upstream_gene_variant,,ENST00000490654,; A ENSG00000128656 ENST00000409900 Transcript missense_variant 448/2447 134/1380 45/459 Y/F tAt/tTt 1 -1 CHN1 HGNC HGNC:1943 protein_coding YES CCDS46455.1 ENSP00000386741 P15882 UPI000012781D NM_001822.5 tolerated(0.71) benign(0.345) 4/13 cd10352,PIRSF_domain:PIRSF038015,Superfamily_domains:SSF55550,hmmpanther:PTHR23176:SF34,hmmpanther:PTHR23176 MODERATE 1 SNV 1 1 PASS ATA . . 174918546 TTN . GRCh38 chr2 178620484 178620484 + Missense_Mutation SNP C C T rs367996763 7316-153 BS_TDN8NVYJ C C c.46037G>A p.Arg15346His p.R15346H ENST00000589042 248/363 90 64 26 40 40 0 TTN,missense_variant,p.Arg15346His,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Arg13705His,ENST00000591111,;TTN,missense_variant,p.Arg13705His,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Arg12778His,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Arg6281His,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Arg6473His,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Arg6406His,ENST00000359218,NM_133432.3;AC010680.4,downstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,downstream_gene_variant,,ENST00000456053,;TTN-AS1,downstream_gene_variant,,ENST00000592750,;TTN-AS1,downstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000626138,;TTN-AS1,downstream_gene_variant,,ENST00000627527,; T ENSG00000155657 ENST00000589042 Transcript missense_variant 46262/109224 46037/107976 15346/35991 R/H cGt/cAt rs367996763 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 probably_damaging(0.998) 248/363 Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd00096 0.0002577 uncertain_significance,not_provided MODERATE 1 SNV 5 1 1 PASS ACG . . 2.045e-05 0.0001966 2.989e-05 9.058e-06 178620484 PLCL1 . GRCh38 chr2 198085010 198085010 + Missense_Mutation SNP C C A novel 7316-153 BS_TDN8NVYJ C C c.1493C>A p.Pro498Gln p.P498Q ENST00000428675 2/6 77 36 40 33 33 0 PLCL1,missense_variant,p.Pro421Gln,ENST00000437704,;PLCL1,missense_variant,p.Pro498Gln,ENST00000428675,NM_006226.3;PLCL1,missense_variant,p.Pro424Gln,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,; A ENSG00000115896 ENST00000428675 Transcript missense_variant 1891/5125 1493/3288 498/1095 P/Q cCg/cAg 1 1 PLCL1 HGNC HGNC:9063 protein_coding YES CCDS2326.2 ENSP00000402861 Q15111 UPI000165BCF5 NM_006226.3 tolerated(0.48) benign(0.012) 2/6 Gene3D:3.20.20.190,Pfam_domain:PF00388,PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF84,SMART_domains:SM00148,Superfamily_domains:SSF51695,cd08597 MODERATE 1 SNV 1 PASS CCG . . 198085010 USF3 . GRCh38 chr3 113658635 113658635 + Frame_Shift_Del DEL T T - rs762604668 7316-153 BS_TDN8NVYJ T T c.3047del p.Asn1016ThrfsTer23 p.N1016Tfs*23 ENST00000316407 7/7 61 52 7 32 31 0 USF3,frameshift_variant,p.Asn1016ThrfsTer23,ENST00000316407,NM_001009899.3;USF3,frameshift_variant,p.Asn1016ThrfsTer23,ENST00000478658,;USF3,intron_variant,,ENST00000491165,;USF3,non_coding_transcript_exon_variant,,ENST00000496826,; - ENSG00000176542 ENST00000316407 Transcript frameshift_variant 3458/13708 3047/6738 1016/2245 N/X aAc/ac rs762604668,COSM111504 1 -1 USF3 HGNC HGNC:30494 protein_coding YES CCDS43133.1 ENSP00000320794 Q68DE3 UPI0004438052 NM_001009899.3 7/7 hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF2,mobidb-lite 0,1 HIGH 1 deletion 5 0,1 PASS GGTT . . 0.01317 0.007262 0.01271 0.01414 0.008065 0.01501 0.01243 0.01613 0.02122 113658634 MUC4 . GRCh38 chr3 195782924 195782924 + Missense_Mutation SNP C C T rs200539358 7316-153 BS_TDN8NVYJ C C c.8656G>A p.Ala2886Thr p.A2886T ENST00000463781 2/25 64 47 8 30 26 0 MUC4,missense_variant,p.Ala2886Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala2886Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala2886Thr,ENST00000478156,;MUC4,missense_variant,p.Ala2886Thr,ENST00000466475,;MUC4,missense_variant,p.Ala2886Thr,ENST00000477756,;MUC4,missense_variant,p.Ala2886Thr,ENST00000477086,;MUC4,missense_variant,p.Ala2886Thr,ENST00000480843,;MUC4,missense_variant,p.Ala2886Thr,ENST00000462323,;MUC4,missense_variant,p.Ala2886Thr,ENST00000470451,;MUC4,missense_variant,p.Ala2886Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 9116/17110 8656/16239 2886/5412 A/T Gct/Act rs200539358,COSM3774081 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(1) possibly_damaging(0.494) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCG . . 0.01577 0.04502 0.01383 0.007236 0.01738 0.00694 0.01667 0.01675 0.01349 195782924 PLPP1 . GRCh38 chr5 55425940 55425940 + Nonsense_Mutation SNP G G A rs1385744531 7316-153 BS_TDN8NVYJ G G c.652C>T p.Arg218Ter p.R218* ENST00000264775 5/6 71 58 13 43 42 0 PLPP1,stop_gained,p.Arg217Ter,ENST00000307259,NM_003711.3;PLPP1,stop_gained,p.Arg218Ter,ENST00000264775,NM_176895.2;MTREX,downstream_gene_variant,,ENST00000230640,NM_015360.4;MTREX,downstream_gene_variant,,ENST00000508716,;MTREX,downstream_gene_variant,,ENST00000506750,; A ENSG00000067113 ENST00000264775 Transcript stop_gained 992/1550 652/858 218/285 R/* Cga/Tga rs1385744531,COSM3828175,COSM3828174 1 -1 PLPP1 HGNC HGNC:9228 protein_coding YES CCDS34160.1 ENSP00000264775 O14494 A0A024QZU7 UPI0000150635 NM_176895.2 5/6 Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF26,SMART_domains:SM00014,Superfamily_domains:SSF48317,cd03384 0,1,1 HIGH 1 SNV 1 0,1,1 PASS CGA . . 4.062e-06 5.801e-05 55425940 SYNE1 . GRCh38 chr6 152391571 152391572 + Splice_Region INS - - A rs762687647 7316-153 BS_TDN8NVYJ - - c.7713-4dup ENST00000367255 110 56 36 31 27 0 SYNE1,splice_region_variant,,ENST00000341594,;SYNE1,splice_region_variant,,ENST00000367255,NM_182961.3;SYNE1,splice_region_variant,,ENST00000423061,NM_033071.3;SYNE1,splice_region_variant,,ENST00000461872,;,regulatory_region_variant,,ENSR00000205417,; A ENSG00000131018 ENST00000367255 Transcript splice_region_variant,intron_variant rs762687647 1 -1 SYNE1 HGNC HGNC:17089 protein_coding YES CCDS5236.2 ENSP00000356224 Q8NF91 UPI000204AF58 NM_182961.3 51/145 LOW 1 insertion 1 1 PASS TGA . . 2.926e-05 6.491e-05 0.0004704 1.989e-05 152391571 ZNF394 . GRCh38 chr7 99494091 99494091 + Missense_Mutation SNP C C T novel 7316-153 BS_TDN8NVYJ C C c.1124G>A p.Arg375Lys p.R375K ENST00000337673 3/3 88 82 6 35 35 0 ZNF394,missense_variant,p.Arg375Lys,ENST00000337673,NM_032164.2;ZNF394,3_prime_UTR_variant,,ENST00000426306,NM_001345967.1;ZNF789,intron_variant,,ENST00000493485,;ZNF394,intron_variant,,ENST00000462024,;ZNF789,intron_variant,,ENST00000494186,;ZNF394,downstream_gene_variant,,ENST00000394177,;ZNF394,downstream_gene_variant,,ENST00000464401,;ZNF394,downstream_gene_variant,,ENST00000481881,;ZNF394,downstream_gene_variant,,ENST00000485576,; T ENSG00000160908 ENST00000337673 Transcript missense_variant 1328/2179 1124/1686 375/561 R/K aGa/aAa 1 -1 ZNF394 HGNC HGNC:18832 protein_coding YES CCDS5666.1 ENSP00000337363 Q53GI3 UPI000006F498 NM_032164.2 tolerated(1) benign(0) 3/3 Gene3D:2.20.28.30,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF3,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TCT . . 99494091 LRRC4 . GRCh38 chr7 128029121 128029121 + Missense_Mutation SNP G G T novel 7316-153 BS_TDN8NVYJ G G c.1520C>A p.Pro507His p.P507H ENST00000249363 2/2 81 64 17 40 40 0 LRRC4,missense_variant,p.Pro507His,ENST00000249363,NM_022143.4;SND1,intron_variant,,ENST00000354725,NM_014390.2;SND1,intron_variant,,ENST00000486037,;LRRC4,downstream_gene_variant,,ENST00000476782,;LRRC4,downstream_gene_variant,,ENST00000478726,;LRRC4,downstream_gene_variant,,ENST00000494115,;SND1,intron_variant,,ENST00000470723,;SND1,intron_variant,,ENST00000484767,; T ENSG00000128594 ENST00000249363 Transcript missense_variant 1778/3828 1520/1962 507/653 P/H cCc/cAc 1 -1 LRRC4 HGNC HGNC:15586 protein_coding YES CCDS5799.1 ENSP00000249363 Q9HBW1 UPI0000049DF3 NM_022143.4 deleterious(0) probably_damaging(0.954) 2/2 hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF9 MODERATE 1 SNV 1 PASS GGG . . 128029121 RP1L1 . GRCh38 chr8 10607568 10607568 + Missense_Mutation SNP A A G rs777475406 7316-153 BS_TDN8NVYJ A A c.6530T>C p.Leu2177Ser p.L2177S ENST00000382483 4/4 120 81 14 29 27 0 RP1L1,missense_variant,p.Leu2177Ser,ENST00000382483,NM_178857.5; G ENSG00000183638 ENST00000382483 Transcript missense_variant 6754/7973 6530/7203 2177/2400 L/S tTa/tCa rs777475406,COSM5765012 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated(0.8) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 0,1 MODERATE 1 SNV 1 0,1 1 PASS TAA . . 10607568 TEX15 . GRCh38 chr8 30842957 30842958 + Frame_Shift_Ins INS - - T rs770974731 7316-153 BS_TDN8NVYJ - - c.7221dup p.Tyr2408IlefsTer8 p.Y2408Ifs*8 ENST00000638951 7/10 85 22 54 30 30 0 TEX15,frameshift_variant,p.Tyr2408IlefsTer8,ENST00000638951,NM_001350162.1;TEX15,frameshift_variant,p.Tyr2021IlefsTer8,ENST00000256246,NM_031271.3;TEX15,frameshift_variant,p.Tyr2404IlefsTer8,ENST00000643185,; T ENSG00000133863 ENST00000638951 Transcript frameshift_variant 7289-7290/11341 7221-7222/9531 2407-2408/3176 -/X -/A rs770974731 1 -1 TEX15 HGNC HGNC:11738 protein_coding YES ENSP00000492713 A0A1W2PS94 UPI000387D2E8 NM_001350162.1 7/10 hmmpanther:PTHR22380,Pfam_domain:PF15326 HIGH 1 insertion 5 PASS TAT . . 2.911e-05 0.000121 0.0001174 3.349e-05 30842957 TEX10 . GRCh38 chr9 100340327 100340327 + Missense_Mutation SNP G G T novel 7316-153 BS_TDN8NVYJ G G c.1180C>A p.His394Asn p.H394N ENST00000374902 5/15 55 42 13 43 43 0 TEX10,missense_variant,p.His394Asn,ENST00000374902,NM_017746.3;TEX10,missense_variant,p.His397Asn,ENST00000535814,NM_001161584.1;TEX10,missense_variant,p.His39Asn,ENST00000429235,; T ENSG00000136891 ENST00000374902 Transcript missense_variant 1357/3074 1180/2790 394/929 H/N Cat/Aat 1 -1 TEX10 HGNC HGNC:25988 protein_coding YES CCDS6748.1 ENSP00000364037 Q9NXF1 A0A024R169 UPI000013D052 NM_017746.3 deleterious(0.01) possibly_damaging(0.878) 5/15 hmmpanther:PTHR16056:SF2,hmmpanther:PTHR16056,Gene3D:1.25.10.10,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS TGG . . 100340327 HPS6 . GRCh38 chr10 102067293 102067293 + Missense_Mutation SNP C C G novel 7316-153 BS_TDN8NVYJ C C c.1819C>G p.Arg607Gly p.R607G ENST00000299238 1/1 75 38 36 32 32 0 HPS6,missense_variant,p.Arg607Gly,ENST00000299238,NM_024747.5; G ENSG00000166189 ENST00000299238 Transcript missense_variant 1904/2649 1819/2328 607/775 R/G Cga/Gga 1 1 HPS6 HGNC HGNC:18817 protein_coding YES CCDS7527.1 ENSP00000299238 Q86YV9 UPI000000D7EB NM_024747.5 deleterious(0) probably_damaging(0.975) 1/1 Pfam_domain:PF15702,PIRSF_domain:PIRSF037476,hmmpanther:PTHR14696 MODERATE 1 SNV 1 PASS CCG . . 102067293 KRTAP5-1 . GRCh38 chr11 1584753 1584753 + Missense_Mutation SNP G G C rs59007122 7316-153 BS_TDN8NVYJ G G c.497C>G p.Ala166Gly p.A166G ENST00000382171 1/1 53 37 8 32 29 0 KRTAP5-1,missense_variant,p.Ala166Gly,ENST00000382171,NM_001005922.1;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000534077,; C ENSG00000205869 ENST00000382171 Transcript missense_variant 531/942 497/837 166/278 A/G gCc/gGc rs59007122,COSM1352862,COSM1188138 1 -1 KRTAP5-1 HGNC HGNC:23596 protein_coding YES CCDS31330.1 ENSP00000371606 Q6L8H4 UPI000037605D NM_001005922.1 tolerated_low_confidence(0.64) benign(0) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF127,Low_complexity_(Seg):seg 0,1,1 MODERATE SNV 0,1,1 PASS GGC . . 0.01912 0.006849 0.03327 0.02439 0.009598 0.02613 0.01403 0.02653 0.03052 1584753 KMT2D . GRCh38 chr12 49039611 49039611 + Nonsense_Mutation SNP G G A rs587783727 7316-153 BS_TDN8NVYJ G G c.8053C>T p.Arg2685Ter p.R2685* ENST00000301067 32/54 95 53 41 40 40 0 KMT2D,stop_gained,p.Arg2685Ter,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,; A ENSG00000167548 ENST00000301067 Transcript stop_gained 8053/19419 8053/16614 2685/5537 R/* Cga/Tga rs587783727,COSM221057,COSM221056 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 32/54 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,Low_complexity_(Seg):seg pathogenic 0,1,1 18414213 HIGH 1 SNV 5 1,1,1 1 PASS CGC . . 49039611 FAM186A . GRCh38 chr12 50352165 50352165 + Missense_Mutation SNP A A G rs34000017 7316-153 BS_TDN8NVYJ A A c.4667T>C p.Ile1556Thr p.I1556T ENST00000327337 4/8 46 30 9 25 23 0 FAM186A,missense_variant,p.Ile1556Thr,ENST00000543111,;FAM186A,missense_variant,p.Ile1556Thr,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 4667/7127 4667/7056 1556/2351 I/T aTc/aCc rs34000017,COSM6233654 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GAT . . 0.002734 0.007383 0.00556 0.001038 0.01507 0.002263 0.002488 0.001048 50352165 IGHJ2 . GRCh38 chr14 105865234 105865234 + Missense_Mutation SNP A A T novel 7316-153 BS_TDN8NVYJ A A c.17T>A p.Leu6His p.L6H ENST00000390564 1/1 101 91 7 42 42 0 IGHJ2,missense_variant,p.Leu6His,ENST00000390564,;IGHJ6,upstream_gene_variant,,ENST00000390560,;IGHJ1,downstream_gene_variant,,ENST00000390565,;IGHD7-27,downstream_gene_variant,,ENST00000439842,;IGHJ4,upstream_gene_variant,,ENST00000461719,;IGHJ3,upstream_gene_variant,,ENST00000463911,;IGHJ5,upstream_gene_variant,,ENST00000488476,;IGHJ3P,upstream_gene_variant,,ENST00000436826,;IGHJ1P,downstream_gene_variant,,ENST00000450690,;IGHJ2P,upstream_gene_variant,,ENST00000454480,; T ENSG00000211904 ENST00000390564 Transcript missense_variant 17/52 17/52 6/17 L/H cTc/cAc 1 -1 IGHJ2 HGNC HGNC:5534 IG_J_gene YES ENSP00000419748 A0A0C4DH70 UPI00001198E0 benign(0) 1/1 MODERATE 1 SNV PASS GAG . . 105865234 AC087386.1 . GRCh38 chr15 20144962 20144962 + Splice_Region SNP G G A rs71249518 7316-153 BS_TDN8NVYJ G G n.424-4C>T ENST00000553658 59 48 10 27 26 0 AC087386.1,splice_region_variant,,ENST00000553658,;AC087386.2,non_coding_transcript_exon_variant,,ENST00000623212,; A ENSG00000258410 ENST00000553658 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs71249518 1 -1 AC087386.1 Clone_based_ensembl_gene lincRNA YES 2/3 LOW 1 SNV 4 PASS AGA . . 20144962 CTDNEP1 . GRCh38 chr17 7246829 7246830 + Frame_Shift_Ins INS - A A novel 7316-153 BS_TDN8NVYJ - - c.321dup p.Val108CysfsTer3 p.V108Cfs*3 ENST00000573600 5/9 52 3 46 38 37 0 CTDNEP1,frameshift_variant,p.Val108CysfsTer3,ENST00000573600,;CTDNEP1,frameshift_variant,p.Val108CysfsTer3,ENST00000574322,NM_001143775.1;CTDNEP1,frameshift_variant,p.Val108CysfsTer3,ENST00000318988,NM_015343.4;CTDNEP1,frameshift_variant,p.Val73CysfsTer3,ENST00000570828,;CTDNEP1,frameshift_variant,p.Val108CysfsTer3,ENST00000575783,;CTDNEP1,frameshift_variant,p.Val108CysfsTer3,ENST00000571409,;CTDNEP1,5_prime_UTR_variant,,ENST00000572043,;CTDNEP1,intron_variant,,ENST00000576613,;GABARAP,upstream_gene_variant,,ENST00000302386,NM_007278.1;GABARAP,upstream_gene_variant,,ENST00000571129,;GABARAP,upstream_gene_variant,,ENST00000571253,;ELP5,upstream_gene_variant,,ENST00000573699,;GABARAP,upstream_gene_variant,,ENST00000573928,;AC120057.3,downstream_gene_variant,,ENST00000624722,;CTDNEP1,frameshift_variant,p.Val108CysfsTer3,ENST00000574205,;CTDNEP1,3_prime_UTR_variant,,ENST00000570380,;AC003688.1,3_prime_UTR_variant,,ENST00000577138,;CTDNEP1,upstream_gene_variant,,ENST00000570385,;CTDNEP1,upstream_gene_variant,,ENST00000570484,;AC120057.2,upstream_gene_variant,,ENST00000570760,;GABARAP,upstream_gene_variant,,ENST00000570856,; A ENSG00000175826 ENST00000573600 Transcript frameshift_variant 743-744/1724 321-322/735 107-108/244 -/X -/T 1 -1 CTDNEP1 HGNC HGNC:19085 protein_coding YES CCDS11093.1 ENSP00000461749 O95476 UPI000007257A 5/9 PROSITE_profiles:PS50969,cd07521,hmmpanther:PTHR12210,hmmpanther:PTHR12210:SF70,Pfam_domain:PF03031,TIGRFAM_domain:TIGR02251,Gene3D:3.40.50.1000,SMART_domains:SM00577,Superfamily_domains:SSF56784 HIGH insertion 5 PASS ACA . . 7246829 STAT5A . GRCh38 chr17 42307669 42307669 + Missense_Mutation SNP C C T 7316-153 BS_TDN8NVYJ C C c.1852C>T p.Arg618Cys p.R618C ENST00000345506 16/20 135 109 26 38 38 0 STAT5A,missense_variant,p.Arg618Cys,ENST00000345506,NM_003152.3;STAT5A,missense_variant,p.Arg587Cys,ENST00000588868,NM_001288720.1;STAT5A,missense_variant,p.Arg618Cys,ENST00000590949,NM_001288718.1;STAT5A,missense_variant,p.Arg588Cys,ENST00000546010,NM_001288719.1;STAT5A,missense_variant,p.Arg106Cys,ENST00000587646,;STAT5A,non_coding_transcript_exon_variant,,ENST00000591556,;STAT5A,non_coding_transcript_exon_variant,,ENST00000468096,;STAT5A,downstream_gene_variant,,ENST00000479417,; T ENSG00000126561 ENST00000345506 Transcript missense_variant 2494/4301 1852/2385 618/794 R/C Cgc/Tgc COSM6970376,COSM6970375 1 1 STAT5A HGNC HGNC:11366 protein_coding YES CCDS11424.1 ENSP00000341208 P42229 UPI0000136075 NM_003152.3 deleterious(0) probably_damaging(1) 16/20 Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF47,SMART_domains:SM00252,Superfamily_domains:SSF55550,cd10421 1,1 MODERATE 1 SNV 1 1,1 PASS GCG . . 42307669 AOC2 . GRCh38 chr17 42844754 42844754 + Missense_Mutation SNP G G A novel 7316-153 BS_TDN8NVYJ G G c.128G>A p.Arg43Lys p.R43K ENST00000253799 1/4 119 74 45 40 38 0 AOC2,missense_variant,p.Arg43Lys,ENST00000253799,NM_009590.2;AOC2,missense_variant,p.Arg43Lys,ENST00000452774,NM_001158.3;PSME3,downstream_gene_variant,,ENST00000293362,NM_176863.2;PSME3,downstream_gene_variant,,ENST00000441946,NM_001267045.1;PSME3,downstream_gene_variant,,ENST00000541124,;PSME3,downstream_gene_variant,,ENST00000545225,;PSME3,downstream_gene_variant,,ENST00000590720,NM_005789.3;PSME3,downstream_gene_variant,,ENST00000592169,;PSME3,downstream_gene_variant,,ENST00000622892,;PSME3,downstream_gene_variant,,ENST00000543428,; A ENSG00000131480 ENST00000253799 Transcript missense_variant 155/2657 128/2271 43/756 R/K aGg/aAg 1 1 AOC2 HGNC HGNC:549 protein_coding YES CCDS11443.1 ENSP00000253799 O75106 UPI000013CDF4 NM_009590.2 tolerated(0.41) benign(0.003) 1/4 hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF4 MODERATE 1 SNV 1 PASS AGG . . 42844754 BPTF . GRCh38 chr17 67940465 67940465 + Missense_Mutation SNP A A G novel 7316-153 BS_TDN8NVYJ A A c.6286A>G p.Ile2096Val p.I2096V ENST00000306378 19/28 115 101 14 36 35 0 BPTF,missense_variant,p.Ile2222Val,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Ile2083Val,ENST00000644067,;BPTF,missense_variant,p.Ile2083Val,ENST00000342579,;BPTF,missense_variant,p.Ile2096Val,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Ile2083Val,ENST00000424123,;BPTF,missense_variant,p.Ile2159Val,ENST00000544778,;BPTF,missense_variant,p.Ile313Val,ENST00000582467,;BPTF,upstream_gene_variant,,ENST00000580465,;BPTF,non_coding_transcript_exon_variant,,ENST00000577770,;BPTF,upstream_gene_variant,,ENST00000582406,;BPTF,upstream_gene_variant,,ENST00000584931,; G ENSG00000171634 ENST00000306378 Transcript missense_variant 6346/9688 6286/8763 2096/2920 I/V Atc/Gtc 1 1 BPTF HGNC HGNC:3581 protein_coding YES CCDS11673.1 ENSP00000307208 Q12830 UPI00002263BF NM_182641.3 deleterious(0.01) possibly_damaging(0.697) 19/28 hmmpanther:PTHR22880:SF137,hmmpanther:PTHR22880 MODERATE 1 SNV 1 1 PASS AAT . . 67940465 ROCK1 . GRCh38 chr18 20954987 20954987 + Missense_Mutation SNP G G C rs201390233 7316-153 BS_TDN8NVYJ G G c.3649C>G p.Gln1217Glu p.Q1217E ENST00000399799 31/33 77 68 9 50 50 0 ROCK1,missense_variant,p.Gln1217Glu,ENST00000399799,NM_005406.2;ROCK1,upstream_gene_variant,,ENST00000578051,;ROCK1,3_prime_UTR_variant,,ENST00000635540,;ROCK1,non_coding_transcript_exon_variant,,ENST00000584687,; C ENSG00000067900 ENST00000399799 Transcript missense_variant 4590/9484 3649/4065 1217/1354 Q/E Caa/Gaa rs201390233,COSM1130086 1 -1 ROCK1 HGNC HGNC:10251 protein_coding YES CCDS11870.2 ENSP00000382697 Q13464 UPI000006F0A4 NM_005406.2 tolerated(1) benign(0.139) 31/33 cd01242,Gene3D:2.30.29.30,PIRSF_domain:PIRSF037568,SMART_domains:SM00233,PROSITE_profiles:PS50003,hmmpanther:PTHR22988:SF33,hmmpanther:PTHR22988 0,1 MODERATE 1 SNV 1 0,1 PASS TGT . . 0.07235 0.0485 0.1468 0.08229 0.1704 0.04098 0.04507 0.07183 0.0871 20954987 ATCAY . GRCh38 chr19 3918808 3918808 + Missense_Mutation SNP C C T rs112396816 7316-153 BS_TDN8NVYJ C C c.1004C>T p.Ala335Val p.A335V ENST00000450849 11/13 79 47 32 43 43 0 ATCAY,missense_variant,p.Ala335Val,ENST00000450849,NM_033064.4;ATCAY,missense_variant,p.Ala335Val,ENST00000600960,;RN7SL202P,downstream_gene_variant,,ENST00000584410,;ATCAY,splice_region_variant,,ENST00000597739,; T ENSG00000167654 ENST00000450849 Transcript missense_variant,splice_region_variant 1471/5070 1004/1116 335/371 A/V gCg/gTg rs112396816,COSM996120,COSM996119 1 1 ATCAY HGNC HGNC:779 protein_coding YES CCDS45923.1 ENSP00000390941 Q86WG3 A0A0S2Z5T8 UPI000006DE3B NM_033064.4 deleterious(0.02) benign(0) 11/13 mobidb-lite,hmmpanther:PTHR12112:SF9,hmmpanther:PTHR12112 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS GCG . . 7.313e-05 6.541e-05 6.272e-05 0.0003249 3918808 STXBP2 . GRCh38 chr19 7641717 7641717 + Missense_Mutation SNP G G T novel 7316-153 BS_TDN8NVYJ G G c.475G>T p.Asp159Tyr p.D159Y ENST00000441779 7/19 88 59 28 31 31 0 STXBP2,missense_variant,p.Asp159Tyr,ENST00000441779,NM_001272034.1;STXBP2,missense_variant,p.Asp148Tyr,ENST00000221283,NM_006949.3;STXBP2,missense_variant,p.Asp145Tyr,ENST00000414284,NM_001127396.2;STXBP2,missense_variant,p.Asp96Tyr,ENST00000595950,;STXBP2,downstream_gene_variant,,ENST00000593535,;STXBP2,upstream_gene_variant,,ENST00000600702,;STXBP2,upstream_gene_variant,,ENST00000602355,;STXBP2,downstream_gene_variant,,ENST00000612033,;AC008763.1,upstream_gene_variant,,ENST00000601797,;STXBP2,missense_variant,p.Asp148Tyr,ENST00000597068,;AC008763.2,3_prime_UTR_variant,,ENST00000595866,;STXBP2,non_coding_transcript_exon_variant,,ENST00000599648,;AC008763.2,intron_variant,,ENST00000598664,;STXBP2,intron_variant,,ENST00000599737,;STXBP2,upstream_gene_variant,,ENST00000593854,;STXBP2,upstream_gene_variant,,ENST00000594221,;STXBP2,downstream_gene_variant,,ENST00000595181,;STXBP2,upstream_gene_variant,,ENST00000595800,;STXBP2,upstream_gene_variant,,ENST00000595861,;STXBP2,downstream_gene_variant,,ENST00000597467,;AC008763.2,downstream_gene_variant,,ENST00000599243,;STXBP2,upstream_gene_variant,,ENST00000599400,;STXBP2,upstream_gene_variant,,ENST00000599558,;STXBP2,downstream_gene_variant,,ENST00000599905,;STXBP2,upstream_gene_variant,,ENST00000601061,; T ENSG00000076944 ENST00000441779 Transcript missense_variant 512/1914 475/1815 159/604 D/Y Gat/Tat 1 1 STXBP2 HGNC HGNC:11445 protein_coding YES CCDS62522.1 ENSP00000413606 Q15833 UPI0001AE6405 NM_001272034.1 deleterious(0) probably_damaging(0.989) 7/19 hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF27,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815 MODERATE 1 SNV 2 1 PASS CGA . . 7641717 ZNF93 . GRCh38 chr19 19933649 19933649 + Missense_Mutation SNP G G A rs1465774753 7316-153 BS_TDN8NVYJ G G c.694G>A p.Asp232Asn p.D232N ENST00000343769 4/4 65 57 6 36 34 0 ZNF93,missense_variant,p.Asp232Asn,ENST00000343769,NM_031218.3;ZNF93,missense_variant,p.Asp41Asn,ENST00000638737,;ZNF93,downstream_gene_variant,,ENST00000588146,;ZNF93,downstream_gene_variant,,ENST00000592160,;ZNF93,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,; A ENSG00000184635 ENST00000343769 Transcript missense_variant 722/2648 694/1863 232/620 D/N Gat/Aat rs1465774753 1 1 ZNF93 HGNC HGNC:13169 protein_coding YES CCDS32973.1 ENSP00000342002 P35789 UPI00002263B9 NM_031218.3 tolerated(0.08) benign(0.041) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF037162,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TGA . . 19933649 CEBPA . GRCh38 chr19 33301849 33301851 + In_Frame_Del DEL GGC GGC - rs781757114 7316-153 BS_TDN8NVYJ GGC GGC c.564_566del p.Pro189del p.P189del ENST00000498907 1/1 48 33 5 18 12 0 CEBPA,inframe_deletion,p.Pro189del,ENST00000498907,NM_001287435.1,NM_004364.4,NM_001285829.1,NM_001287424.1;AC008738.2,upstream_gene_variant,,ENST00000593041,;AC008738.5,non_coding_transcript_exon_variant,,ENST00000587312,;AC008738.3,downstream_gene_variant,,ENST00000589932,;CEBPA-DT,upstream_gene_variant,,ENST00000592982,;,regulatory_region_variant,,ENSR00000108807,; - ENSG00000245848 ENST00000498907 Transcript inframe_deletion 714-716/2631 564-566/1077 188-189/358 PP/P ccGCCc/ccc rs781757114,COSM5044355 1 -1 CEBPA HGNC HGNC:1833 protein_coding YES CCDS54243.1 ENSP00000427514 P49715 UPI0000167F92 NM_001287435.1,NM_004364.4,NM_001285829.1,NM_001287424.1 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23334:SF5,hmmpanther:PTHR23334,PIRSF_domain:PIRSF005879 0.08955 0.03093 0,1 MODERATE deletion 0,1 1 PASS AGGGCG . . 0.01088 0.004425 0.01103 0.006679 0.009375 0.01196 0.01192 0.00924 0.01113 33301848 VSTM1 . GRCh38 chr19 54041079 54041079 + Missense_Mutation SNP G G A rs773562512 7316-153 BS_TDN8NVYJ G G c.593C>T p.Thr198Met p.T198M ENST00000338372 9/9 67 51 15 29 29 0 VSTM1,missense_variant,p.Thr198Met,ENST00000338372,NM_198481.3,NM_001288791.1;VSTM1,missense_variant,p.Thr167Met,ENST00000376626,NM_001288792.1;VSTM1,missense_variant,p.Thr78Met,ENST00000366170,NM_001288793.1;VSTM1,missense_variant,p.Thr88Met,ENST00000419106,;VSTM1,splice_region_variant,,ENST00000447872,; A ENSG00000189068 ENST00000338372 Transcript missense_variant,splice_region_variant 769/1023 593/711 198/236 T/M aCg/aTg rs773562512,COSM1270311 1 -1 VSTM1 HGNC HGNC:29455 protein_coding YES CCDS12872.1 ENSP00000343366 Q6UX27 UPI00001D8195 NM_198481.3,NM_001288791.1 deleterious(0.03) possibly_damaging(0.586) 9/9 mobidb-lite,hmmpanther:PTHR11738:SF29,hmmpanther:PTHR11738 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 1.94e-05 4.072e-05 3.117e-05 54041079 ZNF71 . GRCh38 chr19 56622630 56622630 + Missense_Mutation SNP T T G rs1166085106 7316-153 BS_TDN8NVYJ T T c.1343T>G p.Ile448Ser p.I448S ENST00000328070 3/3 128 112 8 28 26 0 ZNF71,missense_variant,p.Ile448Ser,ENST00000328070,NM_021216.4;ZNF71,downstream_gene_variant,,ENST00000599599,; G ENSG00000197951 ENST00000328070 Transcript missense_variant 1577/5428 1343/1470 448/489 I/S aTc/aGc rs1166085106 1 1 ZNF71 HGNC HGNC:13141 protein_coding YES CCDS12947.1 ENSP00000328245 Q9NQZ8 UPI00000437FA NM_021216.4 tolerated(1) benign(0.003) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44237,hmmpanther:PTHR44237:SF4,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATC . . 56622630 ZNF512B . GRCh38 chr20 63967011 63967011 + Splice_Region SNP G G A rs377524297 7316-153 BS_TDN8NVYJ G G c.265-7C>T ENST00000369888 93 53 38 43 43 0 ZNF512B,splice_region_variant,,ENST00000369888,NM_020713.2; A ENSG00000196700 ENST00000369888 Transcript splice_region_variant,intron_variant rs377524297 1 -1 ZNF512B HGNC HGNC:29212 protein_coding YES CCDS13548.1 ENSP00000358904 Q96KM6 UPI000013A290 NM_020713.2 3/16 0.0002 0.001 0.0002271 LOW 1 SNV 1 PASS CGT . . 4.488e-05 6.572e-05 2.705e-05 0.0002275 63967011 MAGEB6B . GRCh38 chrX 26160874 26160874 + Missense_Mutation SNP A A G novel 7316-153 BS_TDN8NVYJ A A c.274A>G p.Lys92Glu p.K92E ENST00000416929 1/1 42 35 6 17 17 0 MAGEB6B,missense_variant,p.Lys92Glu,ENST00000416929,; G ENSG00000232030 ENST00000416929 Transcript missense_variant 274/1224 274/1224 92/407 K/E Aaa/Gaa 1 1 MAGEB6B HGNC HGNC:28824 protein_coding YES ENSP00000488257 A0A0J9YX57 UPI0000237759 tolerated(1) probably_damaging(0.992) 1/1 Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67,hmmpanther:PTHR11736:SF67,SMART_domains:SM01392,mobidb-lite MODERATE 1 SNV PASS GAA . . 26160874 ZNF280C . GRCh38 chrX 130204999 130205000 + Splice_Region INS - - A rs760157804 7316-153 BS_TDN8NVYJ - - c.2199-8dup ENST00000370978 32 18 7 18 13 0 ZNF280C,splice_region_variant,,ENST00000370978,NM_017666.4; A ENSG00000056277 ENST00000370978 Transcript splice_region_variant,intron_variant rs760157804 1 -1 ZNF280C HGNC HGNC:25955 protein_coding YES CCDS14622.1 ENSP00000360017 Q8ND82 UPI0000071981 NM_017666.4 18/18 LOW 1 insertion 1 PASS AGA . . 0.3004 0.2547 0.3099 0.3398 0.2568 0.367 0.2777 0.307 0.3358 130204999 PRAMEF10 . GRCh38 chr1 12898218 12898218 + Splice_Region SNP G G C rs1172636245 7316-931 BS_YKD3WYFB G G c.-28C>G ENST00000235347 1/4 73 55 15 43 42 1 PRAMEF10,splice_region_variant,,ENST00000235347,NM_001039361.4; C ENSG00000187545 ENST00000235347 Transcript splice_region_variant,5_prime_UTR_variant 53/1525 rs1172636245 1 -1 PRAMEF10 HGNC HGNC:27997 protein_coding YES CCDS41255.1 ENSP00000235347 O60809 UPI000442CF00 NM_001039361.4 1/4 LOW 1 SNV 1 PASS AGA . . 12898218 ZBTB8B . GRCh38 chr1 32465106 32465106 + Splice_Site SNP G G T novel 7316-931 BS_YKD3WYFB G G c.-42+1G>T ENST00000609129 72 51 19 35 35 0 ZBTB8B,splice_donor_variant,,ENST00000609129,NM_001145720.1;AL033529.1,splice_donor_variant,,ENST00000480336,;,regulatory_region_variant,,ENSR00000004366,; T ENSG00000273274 ENST00000609129 Transcript splice_donor_variant 1 1 ZBTB8B HGNC HGNC:37057 protein_coding YES CCDS44104.1 ENSP00000476499 Q8NAP8 UPI000195170E NM_001145720.1 1/3 HIGH SNV 5 PASS GGT . . 32465106 POU3F1 . GRCh38 chr1 38046495 38046495 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.249T>G p.Asp83Glu p.D83E ENST00000373012 1/1 48 37 6 29 28 0 POU3F1,missense_variant,p.Asp83Glu,ENST00000373012,NM_002699.3;AL139158.2,upstream_gene_variant,,ENST00000428151,;AL139158.2,upstream_gene_variant,,ENST00000432922,;,regulatory_region_variant,,ENSR00000004926,; C ENSG00000185668 ENST00000373012 Transcript missense_variant 300/2184 249/1356 83/451 D/E gaT/gaG 1 -1 POU3F1 HGNC HGNC:9214 protein_coding YES CCDS30679.1 ENSP00000362103 Q03052 UPI00001606D2 NM_002699.3 tolerated_low_confidence(0.33) benign(0.062) 1/1 PIRSF_domain:PIRSF002629,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF75,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS AAT . . 38046495 HECTD3 . GRCh38 chr1 45010971 45010971 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.287T>G p.Ile96Ser p.I96S ENST00000372172 1/21 58 48 9 32 32 0 HECTD3,missense_variant,p.Ile96Ser,ENST00000372172,NM_024602.5;UROD,upstream_gene_variant,,ENST00000246337,NM_000374.4;HECTD3,upstream_gene_variant,,ENST00000372168,;UROD,upstream_gene_variant,,ENST00000428106,;UROD,upstream_gene_variant,,ENST00000434478,;UROD,upstream_gene_variant,,ENST00000636293,;UROD,upstream_gene_variant,,ENST00000636836,;UROD,upstream_gene_variant,,ENST00000460334,;UROD,upstream_gene_variant,,ENST00000460906,;UROD,upstream_gene_variant,,ENST00000461035,;UROD,upstream_gene_variant,,ENST00000462688,;UROD,upstream_gene_variant,,ENST00000463092,;UROD,upstream_gene_variant,,ENST00000465678,;UROD,upstream_gene_variant,,ENST00000466193,;HECTD3,upstream_gene_variant,,ENST00000466423,;UROD,upstream_gene_variant,,ENST00000469548,;UROD,upstream_gene_variant,,ENST00000472254,;UROD,upstream_gene_variant,,ENST00000473012,;UROD,upstream_gene_variant,,ENST00000478467,;HECTD3,upstream_gene_variant,,ENST00000484564,;HECTD3,upstream_gene_variant,,ENST00000486296,;UROD,upstream_gene_variant,,ENST00000486699,;HECTD3,upstream_gene_variant,,ENST00000487488,;UROD,upstream_gene_variant,,ENST00000490385,;UROD,upstream_gene_variant,,ENST00000491300,;UROD,upstream_gene_variant,,ENST00000491773,;UROD,upstream_gene_variant,,ENST00000494399,;UROD,upstream_gene_variant,,ENST00000496439,;,regulatory_region_variant,,ENSR00000005825,; C ENSG00000126107 ENST00000372172 Transcript missense_variant 359/3610 287/2586 96/861 I/S aTt/aGt 1 -1 HECTD3 HGNC HGNC:26117 protein_coding YES CCDS41318.1 ENSP00000361245 Q5T447 UPI0000204F79 NM_024602.5 deleterious(0) benign(0.006) 1/21 hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF317 MODERATE SNV 5 PASS AAT . . 45010971 TAL1 . GRCh38 chr1 47225536 47225536 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.353T>G p.Met118Arg p.M118R ENST00000294339 2/4 59 47 8 27 27 0 TAL1,missense_variant,p.Met118Arg,ENST00000294339,NM_003189.5,NM_001290403.1,NM_001290405.1;TAL1,missense_variant,p.Met118Arg,ENST00000371884,NM_001287347.2,NM_001290404.1;AL135960.1,upstream_gene_variant,,ENST00000422216,;TAL1,intron_variant,,ENST00000464796,;TAL1,upstream_gene_variant,,ENST00000459729,;TAL1,downstream_gene_variant,,ENST00000465912,;TAL1,downstream_gene_variant,,ENST00000481091,;,regulatory_region_variant,,ENSR00000006030,; C ENSG00000162367 ENST00000294339 Transcript missense_variant 930/5001 353/996 118/331 M/R aTg/aGg 1 -1 TAL1 HGNC HGNC:11556 protein_coding YES CCDS547.1 ENSP00000294339 P17542 UPI00001368B2 NM_003189.5,NM_001290403.1,NM_001290405.1 tolerated(0.11) possibly_damaging(0.737) 2/4 hmmpanther:PTHR13864:SF16,hmmpanther:PTHR13864 MODERATE 1 SNV 1 1 PASS CAT . . 47225536 TCHH . GRCh38 chr1 152109176 152109176 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.4041A>C p.Glu1347Asp p.E1347D ENST00000614923 3/3 87 74 8 46 45 0 TCHH,missense_variant,p.Glu1347Asp,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Glu1347Asp,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 4136/6995 4041/5832 1347/1943 E/D gaA/gaC 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.07) possibly_damaging(0.607) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS TTT . . 152109176 TCHH . GRCh38 chr1 152109781 152109781 + Missense_Mutation SNP C C G rs369695249 7316-931 BS_YKD3WYFB C C c.3436G>C p.Val1146Leu p.V1146L ENST00000614923 3/3 33 23 8 28 22 0 TCHH,missense_variant,p.Val1146Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Val1146Leu,ENST00000368804,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 3531/6995 3436/5832 1146/1943 V/L Gtg/Ctg rs369695249,COSM3773430 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.66) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS ACC . . 0.001117 0.00133 0.002694 0.0007928 0.004157 0.0001843 0.0004488 0.0004658 0.001774 152109781 FLG2 . GRCh38 chr1 152351463 152351463 + Missense_Mutation SNP G G T rs756165212 7316-931 BS_YKD3WYFB G G c.6323C>A p.Ser2108Tyr p.S2108Y ENST00000388718 3/3 56 43 11 45 44 0 FLG2,missense_variant,p.Ser2108Tyr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 6396/9124 6323/7176 2108/2391 S/Y tCc/tAc rs756165212,COSM6233728 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.09) benign(0.041) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GGA . . 1.321e-05 3.59e-05 1.872e-05 152351463 FAM189B . GRCh38 chr1 155250580 155250580 + Nonsense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.1206T>G p.Tyr402Ter p.Y402* ENST00000361361 9/12 59 49 8 33 32 0 FAM189B,stop_gained,p.Tyr402Ter,ENST00000361361,NM_006589.2;FAM189B,stop_gained,p.Tyr384Ter,ENST00000368368,NM_001267608.1;FAM189B,stop_gained,p.Tyr306Ter,ENST00000350210,NM_198264.1;FAM189B,intron_variant,,ENST00000491082,;FAM189B,intron_variant,,ENST00000621094,;FAM189B,downstream_gene_variant,,ENST00000472550,;FAM189B,non_coding_transcript_exon_variant,,ENST00000368366,;FAM189B,intron_variant,,ENST00000487649,;FAM189B,downstream_gene_variant,,ENST00000481822,;FAM189B,downstream_gene_variant,,ENST00000497941,;,regulatory_region_variant,,ENSR00000014051,; C ENSG00000160767 ENST00000361361 Transcript stop_gained 1716/3082 1206/2007 402/668 Y/* taT/taG 1 -1 FAM189B HGNC HGNC:1233 protein_coding YES CCDS1103.1 ENSP00000354958 P81408 UPI00000710DE NM_006589.2 9/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR17615:SF7,hmmpanther:PTHR17615 HIGH 1 SNV 1 PASS AAT . . 155250580 F5 . GRCh38 chr1 169541469 169541469 + Missense_Mutation SNP G G T novel 7316-931 BS_YKD3WYFB G G c.3621C>A p.Asp1207Glu p.D1207E ENST00000367797 13/25 61 52 7 38 38 0 F5,missense_variant,p.Asp1212Glu,ENST00000367796,;F5,missense_variant,p.Asp1207Glu,ENST00000367797,NM_000130.4; T ENSG00000198734 ENST00000367797 Transcript missense_variant 3823/7024 3621/6675 1207/2224 D/E gaC/gaA 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated(0.06) benign(0.018) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199 MODERATE 1 SNV 1 1 PASS GGT . . 169541469 LAMC1 . GRCh38 chr1 183023718 183023718 + Translation_Start_Site SNP T T G novel 7316-931 BS_YKD3WYFB T T c.2T>G p.Met1? p.M1? ENST00000258341 1/28 40 30 9 29 29 0 LAMC1,start_lost,p.Met1?,ENST00000258341,NM_002293.3;,regulatory_region_variant,,ENSR00000016778,; G ENSG00000135862 ENST00000258341 Transcript start_lost 259/7889 2/4830 1/1609 M/R aTg/aGg 1 1 LAMC1 HGNC HGNC:6492 protein_coding YES CCDS1351.1 ENSP00000258341 P11047 UPI000013CFC7 NM_002293.3 deleterious_low_confidence(0) benign(0) 1/28 Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257 HIGH 1 SNV 1 PASS ATG . . 183023718 PRG4 . GRCh38 chr1 186308145 186308145 + Missense_Mutation SNP G G A rs113308576 7316-931 BS_YKD3WYFB G G c.2426G>A p.Gly809Glu p.G809E ENST00000445192 7/13 46 31 8 38 35 0 PRG4,missense_variant,p.Gly809Glu,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Gly768Glu,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Gly766Glu,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Gly716Glu,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Gly675Glu,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,; A ENSG00000116690 ENST00000445192 Transcript missense_variant 2471/5044 2426/4215 809/1404 G/E gGg/gAg rs113308576,COSM304857 1 1 PRG4 HGNC HGNC:9364 protein_coding YES CCDS1369.1 ENSP00000399679 Q92954 UPI0004620CBB NM_005807.4 tolerated(1) benign(0) 7/13 hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 5 0,1 1 PASS GGG . . 7.498e-05 7.291e-05 0.0001378 0.0001062 9.492e-05 0.000203 186308145 NSL1 . GRCh38 chr1 212738535 212738535 + Missense_Mutation SNP T T A novel 7316-931 BS_YKD3WYFB T T c.719A>T p.Glu240Val p.E240V ENST00000366977 6/6 56 36 20 40 40 0 NSL1,missense_variant,p.Glu240Val,ENST00000366977,NM_001297736.1,NM_015471.3;NSL1,3_prime_UTR_variant,,ENST00000366976,NM_001297739.1,NM_001297737.1;NSL1,intron_variant,,ENST00000366978,;NSL1,downstream_gene_variant,,ENST00000626725,NM_001042549.1;,regulatory_region_variant,,ENSR00000019759,; A ENSG00000117697 ENST00000366977 Transcript missense_variant 738/2317 719/846 240/281 E/V gAa/gTa 1 -1 NSL1 HGNC HGNC:24548 protein_coding YES CCDS1509.1 ENSP00000355944 Q96IY1 Q53FM2 UPI000013D18F NM_001297736.1,NM_015471.3 deleterious(0) probably_damaging(0.997) 6/6 hmmpanther:PTHR31749 MODERATE 1 SNV 1 PASS TTC . . 212738535 TRIM67 . GRCh38 chr1 231163795 231163795 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.826A>C p.Ser276Arg p.S276R ENST00000366653 1/10 60 46 10 40 38 1 TRIM67,missense_variant,p.Ser276Arg,ENST00000444294,;TRIM67,missense_variant,p.Ser276Arg,ENST00000366653,NM_001004342.3;TRIM67,missense_variant,p.Ser214Arg,ENST00000449018,NM_001300889.1;,regulatory_region_variant,,ENSR00000021686,; C ENSG00000119283 ENST00000366653 Transcript missense_variant 826/3936 826/2352 276/783 S/R Agc/Cgc 1 1 TRIM67 HGNC HGNC:31859 protein_coding YES CCDS44333.1 ENSP00000355613 Q6ZTA4 UPI0000418F23 NM_001004342.3 tolerated(0.52) benign(0.113) 1/10 Gene3D:3.30.40.10,hmmpanther:PTHR44104,hmmpanther:PTHR44104:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 231163795 KIF26B . GRCh38 chr1 245688631 245688631 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.5648T>G p.Met1883Arg p.M1883R ENST00000407071 12/15 50 42 8 39 38 0 KIF26B,missense_variant,p.Met1502Arg,ENST00000366518,;KIF26B,missense_variant,p.Met1883Arg,ENST00000407071,NM_018012.3;KIF26B,downstream_gene_variant,,ENST00000483253,;,regulatory_region_variant,,ENSR00000023018,;,TF_binding_site_variant,,PB0124.1,; G ENSG00000162849 ENST00000407071 Transcript missense_variant 6088/7287 5648/6327 1883/2108 M/R aTg/aGg 1 1 KIF26B HGNC HGNC:25484 protein_coding YES CCDS44342.1 ENSP00000385545 Q2KJY2 UPI0000695D71 NM_018012.3 deleterious(0.01) probably_damaging(0.986) 12/15 hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF363,mobidb-lite MODERATE 1 SNV 1 PASS ATG . . 245688631 ZFP36L2 . GRCh38 chr2 43224886 43224886 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.918T>G p.Cys306Trp p.C306W ENST00000282388 2/2 54 39 11 30 29 0 ZFP36L2,missense_variant,p.Cys306Trp,ENST00000282388,NM_006887.4;LINC01126,upstream_gene_variant,,ENST00000623515,;AC010883.1,upstream_gene_variant,,ENST00000423354,;,regulatory_region_variant,,ENSR00000116141,; C ENSG00000152518 ENST00000282388 Transcript missense_variant 1212/3696 918/1485 306/494 C/W tgT/tgG 1 -1 ZFP36L2 HGNC HGNC:1108 protein_coding YES CCDS1811.1 ENSP00000282388 P47974 UPI000013DCDA NM_006887.4 deleterious(0.02) possibly_damaging(0.712) 2/2 hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF100,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 43224886 IL36B . GRCh38 chr2 113028963 113028963 + Missense_Mutation SNP C C A novel 7316-931 BS_YKD3WYFB C C c.237G>T p.Gln79His p.Q79H ENST00000259213 4/6 73 56 16 39 37 0 IL36B,missense_variant,p.Gln79His,ENST00000259213,NM_014438.4;IL36B,missense_variant,p.Gln79His,ENST00000327407,NM_173178.2; A ENSG00000136696 ENST00000259213 Transcript missense_variant 345/1186 237/495 79/164 Q/H caG/caT 1 -1 IL36B HGNC HGNC:15564 protein_coding YES CCDS2109.1 ENSP00000259213 Q9NZH7 UPI000003C9C0 NM_014438.4 deleterious_low_confidence(0.02) possibly_damaging(0.808) 4/6 hmmpanther:PTHR10078:SF24,hmmpanther:PTHR10078,Gene3D:2.80.10.50,Superfamily_domains:SSF50353 MODERATE 1 SNV 1 PASS CCT . . 113028963 DLX1 . GRCh38 chr2 172085927 172085927 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.250A>C p.Ile84Leu p.I84L ENST00000361725 1/3 42 33 7 41 41 0 DLX1,missense_variant,p.Ile84Leu,ENST00000361725,NM_178120.4;DLX1,missense_variant,p.Ile84Leu,ENST00000341900,NM_001038493.1;DLX1,missense_variant,p.Ile84Leu,ENST00000361609,;DLX1,missense_variant,p.Ile84Leu,ENST00000469444,;METAP1D,downstream_gene_variant,,ENST00000315796,NM_001322278.1,NM_001322279.1,NM_199227.2;DLX1,upstream_gene_variant,,ENST00000550686,;DLX1,non_coding_transcript_exon_variant,,ENST00000409492,;DLX1,upstream_gene_variant,,ENST00000475989,; C ENSG00000144355 ENST00000361725 Transcript missense_variant 702/2640 250/768 84/255 I/L Atc/Ctc 1 1 DLX1 HGNC HGNC:2914 protein_coding YES CCDS2247.2 ENSP00000354478 P56177 X5D2F9 UPI0000185FE8 NM_178120.4 tolerated(1) benign(0) 1/3 hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF33 MODERATE 1 SNV 1 PASS CAT . . 172085927 SLC4A3 . GRCh38 chr2 219628042 219628042 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.50A>C p.Gln17Pro p.Q17P ENST00000273063 2/23 51 34 9 30 30 0 SLC4A3,missense_variant,p.Gln17Pro,ENST00000358055,NM_005070.3;SLC4A3,missense_variant,p.Gln17Pro,ENST00000273063,NM_201574.2,NM_001326559.1;SLC4A3,missense_variant,p.Gln17Pro,ENST00000373760,;SLC4A3,missense_variant,p.Gln17Pro,ENST00000317151,;SLC4A3,upstream_gene_variant,,ENST00000413743,;AC009955.1,upstream_gene_variant,,ENST00000455896,;SLC4A3,upstream_gene_variant,,ENST00000497589,;SLC4A3,missense_variant,p.Gln17Pro,ENST00000425141,;SLC4A3,upstream_gene_variant,,ENST00000416910,;,regulatory_region_variant,,ENSR00000130585,; C ENSG00000114923 ENST00000273063 Transcript missense_variant,splice_region_variant 264/4246 50/3780 17/1259 Q/P cAg/cCg 1 1 SLC4A3 HGNC HGNC:11029 protein_coding YES CCDS2446.1 ENSP00000273063 P48751 UPI000022BE50 NM_201574.2,NM_001326559.1 deleterious_low_confidence(0.01) possibly_damaging(0.702) 2/23 mobidb-lite MODERATE 1 SNV 1 PASS CAG . . 219628042 UGT1A1 . GRCh38 chr2 233760609 233760609 + Missense_Mutation SNP C C T rs587784538 7316-931 BS_YKD3WYFB C C c.322C>T p.Arg108Cys p.R108C ENST00000305208 1/5 72 57 14 33 33 0 UGT1A1,missense_variant,p.Arg108Cys,ENST00000360418,;UGT1A1,missense_variant,p.Arg108Cys,ENST00000305208,NM_000463.2;UGT1A6,intron_variant,,ENST00000305139,NM_001072.3;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A9,intron_variant,,ENST00000354728,NM_021027.2;UGT1A4,intron_variant,,ENST00000373409,NM_007120.2;UGT1A5,intron_variant,,ENST00000373414,NM_019078.1;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A6,intron_variant,,ENST00000406651,;UGT1A3,intron_variant,,ENST00000482026,NM_019093.2;UGT1A6,downstream_gene_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000484784,; T ENSG00000241635 ENST00000305208 Transcript missense_variant 362/2382 322/1602 108/533 R/C Cgt/Tgt rs587784538 1 1 UGT1A1 HGNC HGNC:12530 protein_coding YES CCDS2510.1 ENSP00000304845 P22309 Q5DT03 UPI00000000C2 NM_000463.2 deleterious(0.03) possibly_damaging(0.892) 1/5 Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF393,Superfamily_domains:SSF53756,cd03784 uncertain_significance 18414213,26716871 MODERATE 1 SNV 1 1 1 PASS GCG . . 4.876e-05 1.792e-05 0.0003249 233760609 TOMM70 . GRCh38 chr3 100400887 100400887 + Missense_Mutation SNP A A C rs1289883522 7316-931 BS_YKD3WYFB A A c.63T>G p.Ser21Arg p.S21R ENST00000284320 1/12 55 39 8 36 36 0 TOMM70,missense_variant,p.Ser21Arg,ENST00000284320,NM_014820.4;LNP1,upstream_gene_variant,,ENST00000383693,NM_001085451.1;LNP1,upstream_gene_variant,,ENST00000489752,;LNP1,upstream_gene_variant,,ENST00000466996,;,regulatory_region_variant,,ENSR00000155636,; C ENSG00000154174 ENST00000284320 Transcript missense_variant 512/4409 63/1827 21/608 S/R agT/agG rs1289883522 1 -1 TOMM70 HGNC HGNC:11985 protein_coding YES CCDS33807.1 ENSP00000284320 O94826 UPI0000000C55 NM_014820.4 deleterious_low_confidence(0.03) benign(0) 1/12 Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 100400887 MCM2 . GRCh38 chr3 127617403 127617403 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.1898T>G p.Ile633Arg p.I633R ENST00000265056 11/16 56 45 9 33 33 0 MCM2,missense_variant,p.Ile633Arg,ENST00000265056,NM_004526.3;MCM2,missense_variant,p.Ile565Arg,ENST00000491422,;MCM2,upstream_gene_variant,,ENST00000468414,;MCM2,splice_region_variant,,ENST00000474964,;MCM2,splice_region_variant,,ENST00000477668,;MCM2,non_coding_transcript_exon_variant,,ENST00000473785,; G ENSG00000073111 ENST00000265056 Transcript missense_variant,splice_region_variant 2142/3622 1898/2715 633/904 I/R aTa/aGa 1 1 MCM2 HGNC HGNC:6944 protein_coding YES CCDS3043.1 ENSP00000265056 P49736 UPI00001A3E4E NM_004526.3 deleterious(0) probably_damaging(0.988) 11/16 cd00009,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00350,Superfamily_domains:SSF52540,PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF44,Prints_domain:PR01657 MODERATE 1 SNV 1 1 PASS ATA . . 127617403 GP9 . GRCh38 chr3 129061982 129061982 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.243T>G p.Asp81Glu p.D81E ENST00000307395 3/3 64 52 9 37 37 0 GP9,missense_variant,p.Asp81Glu,ENST00000307395,NM_000174.4; G ENSG00000169704 ENST00000307395 Transcript missense_variant 465/889 243/534 81/177 D/E gaT/gaG 1 1 GP9 HGNC HGNC:4444 protein_coding YES CCDS3055.1 ENSP00000303942 P14770 UPI000012B9D4 NM_000174.4 tolerated(0.2) benign(0.072) 3/3 hmmpanther:PTHR22650,hmmpanther:PTHR22650:SF6,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 1 PASS ATG . . 129061982 H1FOO . GRCh38 chr3 129547445 129547445 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.143T>G p.Val48Gly p.V48G ENST00000324382 2/5 42 30 8 30 28 0 H1FOO,missense_variant,p.Val48Gly,ENST00000324382,NM_153833.2;H1FOO,upstream_gene_variant,,ENST00000503977,NM_001308262.1; G ENSG00000178804 ENST00000324382 Transcript missense_variant 148/1067 143/1041 48/346 V/G gTg/gGg 1 1 H1FOO HGNC HGNC:18463 protein_coding YES CCDS3064.1 ENSP00000319799 Q8IZA3 UPI000007414E NM_153833.2 tolerated(0.33) benign(0.005) 2/5 Gene3D:1.10.10.10,hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF42,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 129547445 SERPINI2 . GRCh38 chr3 167442191 167442192 + Splice_Region INS - - A rs763577270 7316-931 BS_YKD3WYFB - - c.1172-7dup ENST00000616363 78 40 27 41 35 1 SERPINI2,splice_region_variant,,ENST00000264677,NM_006217.4;SERPINI2,splice_region_variant,,ENST00000461846,;SERPINI2,splice_region_variant,,ENST00000471111,;SERPINI2,splice_region_variant,,ENST00000476257,;SERPINI2,splice_region_variant,,ENST00000616363,NM_001012303.2;SERPINI2,splice_region_variant,,ENST00000495108,; A ENSG00000114204 ENST00000616363 Transcript splice_region_variant,intron_variant rs763577270 1 -1 SERPINI2 HGNC HGNC:8945 protein_coding YES CCDS75047.1 ENSP00000481699 A0A0C4DGW9 UPI00004CEC5E NM_001012303.2 9/9 LOW 1 insertion 5 PASS GGA . . 0.01674 0.1111 0.01405 0.005268 0.03629 0.004187 0.005865 0.01569 0.007697 167442191 MUC4 . GRCh38 chr3 195781511 195781511 + Missense_Mutation SNP G G C rs766780232 7316-931 BS_YKD3WYFB G G c.10069C>G p.His3357Asp p.H3357D ENST00000463781 2/25 70 58 10 43 42 0 MUC4,missense_variant,p.His3357Asp,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His3357Asp,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His3357Asp,ENST00000478156,;MUC4,missense_variant,p.His3357Asp,ENST00000466475,;MUC4,missense_variant,p.His3357Asp,ENST00000477756,;MUC4,missense_variant,p.His3357Asp,ENST00000477086,;MUC4,missense_variant,p.His3357Asp,ENST00000480843,;MUC4,missense_variant,p.His3357Asp,ENST00000462323,;MUC4,missense_variant,p.His3357Asp,ENST00000470451,;MUC4,missense_variant,p.His3357Asp,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 10529/17110 10069/16239 3357/5412 H/D Cac/Gac rs766780232 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.34) benign(0.234) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS TGA . . 1.286e-05 0.0001313 1.642e-05 195781511 MUC4 . GRCh38 chr3 195786020 195786020 + Missense_Mutation SNP T T C rs758250994 7316-931 BS_YKD3WYFB T T c.5560A>G p.Thr1854Ala p.T1854A ENST00000463781 2/25 65 51 7 73 67 1 MUC4,missense_variant,p.Thr1854Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr1854Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr1854Ala,ENST00000478156,;MUC4,missense_variant,p.Thr1854Ala,ENST00000466475,;MUC4,missense_variant,p.Thr1854Ala,ENST00000477756,;MUC4,missense_variant,p.Thr1854Ala,ENST00000477086,;MUC4,missense_variant,p.Thr1854Ala,ENST00000480843,;MUC4,missense_variant,p.Thr1854Ala,ENST00000462323,;MUC4,missense_variant,p.Thr1854Ala,ENST00000470451,;MUC4,missense_variant,p.Thr1854Ala,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 6020/17110 5560/16239 1854/5412 T/A Acc/Gcc rs758250994 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.07) benign(0.224) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS GTG . . 2.581e-05 0.0003807 0.0002478 195786020 MUC4 . GRCh38 chr3 195786418 195786418 + Missense_Mutation SNP A A G rs202065211 7316-931 BS_YKD3WYFB A A c.5162T>C p.Val1721Ala p.V1721A ENST00000463781 2/25 39 22 7 37 32 2 MUC4,missense_variant,p.Val1721Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Val1721Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Val1721Ala,ENST00000478156,;MUC4,missense_variant,p.Val1721Ala,ENST00000466475,;MUC4,missense_variant,p.Val1721Ala,ENST00000477756,;MUC4,missense_variant,p.Val1721Ala,ENST00000477086,;MUC4,missense_variant,p.Val1721Ala,ENST00000480843,;MUC4,missense_variant,p.Val1721Ala,ENST00000462323,;MUC4,missense_variant,p.Val1721Ala,ENST00000470451,;MUC4,missense_variant,p.Val1721Ala,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 5622/17110 5162/16239 1721/5412 V/A gTa/gCa rs202065211 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.69) benign(0.058) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS TAC . . 0.0002804 0.0001829 0.0005807 0.000138 0.00119 0.0002095 0.0003353 0.000262 195786418 ZNF732 . GRCh38 chr4 271544 271544 + Missense_Mutation SNP A A C 7316-931 BS_YKD3WYFB A A c.1313T>G p.Ile438Arg p.I438R ENST00000419098 4/4 76 59 7 51 50 1 ZNF732,missense_variant,p.Ile438Arg,ENST00000419098,NM_001137608.1;ZNF732,missense_variant,p.Ile437Arg,ENST00000619749,;AC079140.5,upstream_gene_variant,,ENST00000507882,;AC079140.3,upstream_gene_variant,,ENST00000511111,; C ENSG00000186777 ENST00000419098 Transcript missense_variant 1324/2193 1313/1758 438/585 I/R aTa/aGa COSM4159014 1 -1 ZNF732 HGNC HGNC:37138 protein_coding YES CCDS46990.1 ENSP00000415774 B4DXR9 UPI00017A8291 NM_001137608.1 tolerated(1) benign(0.006) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF81,PROSITE_patterns:PS00028,Gene3D:2.30.30.380,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS TAT . . 271544 NEUROG2 . GRCh38 chr4 112515052 112515052 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.424T>G p.Phe142Val p.F142V ENST00000313341 2/2 58 47 8 42 38 0 NEUROG2,missense_variant,p.Phe142Val,ENST00000313341,NM_024019.3;AC023886.1,upstream_gene_variant,,ENST00000504009,;AC023886.1,upstream_gene_variant,,ENST00000506057,;,regulatory_region_variant,,ENSR00000172069,; C ENSG00000178403 ENST00000313341 Transcript missense_variant 751/2287 424/819 142/272 F/V Ttc/Gtc 1 -1 NEUROG2 HGNC HGNC:13805 protein_coding YES CCDS3698.1 ENSP00000317333 Q9H2A3 UPI000006ED59 NM_024019.3 deleterious(0) probably_damaging(0.972) 2/2 Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF105,SMART_domains:SM00353,Superfamily_domains:SSF47459,cd00083 MODERATE 1 SNV 1 PASS AAC . . 112515052 TERT . GRCh38 chr5 1294779 1294779 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.211T>G p.Phe71Val p.F71V ENST00000310581 1/16 57 42 12 31 29 0 TERT,missense_variant,p.Phe71Val,ENST00000310581,NM_198253.2;TERT,missense_variant,p.Phe71Val,ENST00000334602,NM_001193376.1;TERT,missense_variant,p.Phe71Val,ENST00000508104,;TERT,non_coding_transcript_exon_variant,,ENST00000522877,;TERT,missense_variant,p.Phe71Val,ENST00000460137,;,regulatory_region_variant,,ENSR00000177539,;,TF_binding_site_variant,,PB0010.1,; C ENSG00000164362 ENST00000310581 Transcript missense_variant 269/4018 211/3399 71/1132 F/V Ttc/Gtc 1 -1 TERT HGNC HGNC:11730 protein_coding YES CCDS3861.2 ENSP00000309572 O14746 UPI0000031309 NM_198253.2 deleterious(0.01) benign(0.071) 1/16 hmmpanther:PTHR12066 MODERATE 1 SNV 1 1 PASS AAG . . 1294779 CTNND2 . GRCh38 chr5 11903852 11903852 + Translation_Start_Site SNP A A C novel 7316-931 BS_YKD3WYFB A A c.2T>G p.Met1? p.M1? ENST00000304623 1/22 45 36 6 29 29 0 CTNND2,start_lost,p.Met1?,ENST00000304623,NM_001332.3;CTNND2,upstream_gene_variant,,ENST00000502551,;CTNND2,upstream_gene_variant,,ENST00000508761,;CTNND2,non_coding_transcript_exon_variant,,ENST00000509868,;CTNND2,upstream_gene_variant,,ENST00000511278,;CTNND2,start_lost,p.Met1?,ENST00000513588,;CTNND2,start_lost,p.Met1?,ENST00000504499,;,regulatory_region_variant,,ENSR00000178193,; C ENSG00000169862 ENST00000304623 Transcript start_lost 192/5481 2/3678 1/1225 M/R aTg/aGg 1 -1 CTNND2 HGNC HGNC:2516 protein_coding YES CCDS3881.1 ENSP00000307134 Q9UQB3 UPI000013E9AB NM_001332.3 deleterious_low_confidence(0) benign(0.007) 1/22 mobidb-lite HIGH 1 SNV 1 1 PASS CAT . . 11903852 BDP1 . GRCh38 chr5 71510013 71510013 + Missense_Mutation SNP C C T rs753868775 7316-931 BS_YKD3WYFB C C c.2921C>T p.Thr974Ile p.T974I ENST00000358731 17/39 65 49 6 27 26 1 BDP1,missense_variant,p.Thr974Ile,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,; T ENSG00000145734 ENST00000358731 Transcript missense_variant 3184/11073 2921/7875 974/2624 T/I aCt/aTt rs753868775 1 1 BDP1 HGNC HGNC:13652 protein_coding YES CCDS43328.1 ENSP00000351575 A6H8Y1 UPI000020CA90 NM_018429.2 tolerated(0.8) benign(0) 17/39 mobidb-lite,hmmpanther:PTHR22929 MODERATE 1 SNV 1 1 PASS ACT . . 4.092e-06 9.039e-06 71510013 PROB1 . GRCh38 chr5 139392479 139392479 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.2603A>C p.Gln868Pro p.Q868P ENST00000434752 1/1 69 50 13 29 28 1 PROB1,missense_variant,p.Gln868Pro,ENST00000434752,NM_001161546.1;SPATA24,downstream_gene_variant,,ENST00000302091,;MZB1,upstream_gene_variant,,ENST00000302125,NM_016459.3;SPATA24,downstream_gene_variant,,ENST00000450845,NM_194296.1;SPATA24,downstream_gene_variant,,ENST00000512761,;SPATA24,downstream_gene_variant,,ENST00000514983,;MZB1,upstream_gene_variant,,ENST00000417694,;MZB1,upstream_gene_variant,,ENST00000503120,;MZB1,upstream_gene_variant,,ENST00000503351,;MZB1,upstream_gene_variant,,ENST00000503481,;MZB1,upstream_gene_variant,,ENST00000509591,;MZB1,upstream_gene_variant,,ENST00000511979,;MZB1,upstream_gene_variant,,ENST00000513389,;,regulatory_region_variant,,ENSR00000317495,; G ENSG00000228672 ENST00000434752 Transcript missense_variant 3235/5122 2603/3048 868/1015 Q/P cAg/cCg 1 -1 PROB1 HGNC HGNC:41906 protein_coding YES CCDS54909.1 ENSP00000416033 E7EW31 UPI00001974A9 NM_001161546.1 deleterious_low_confidence(0.04) possibly_damaging(0.566) 1/1 hmmpanther:PTHR33775,hmmpanther:PTHR33775:SF1,mobidb-lite MODERATE SNV PASS CTG . . 139392479 SLC22A23 . GRCh38 chr6 3456489 3456489 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.71A>C p.Asn24Thr p.N24T ENST00000406686 1/10 35 25 7 38 38 0 SLC22A23,missense_variant,p.Asn24Thr,ENST00000436008,;SLC22A23,missense_variant,p.Asn24Thr,ENST00000406686,NM_015482.1;SLC22A23,missense_variant,p.Asn24Thr,ENST00000380298,NM_001286456.1;SLC22A23,upstream_gene_variant,,ENST00000485307,;,regulatory_region_variant,,ENSR00000192253,; G ENSG00000137266 ENST00000406686 Transcript missense_variant 71/5658 71/2061 24/686 N/T aAc/aCc 1 -1 SLC22A23 HGNC HGNC:21106 protein_coding YES CCDS47363.1 ENSP00000385028 A1A5C7 UPI0000EE5391 NM_015482.1 deleterious_low_confidence(0.03) benign(0.03) 1/10 mobidb-lite MODERATE 1 SNV 5 PASS GTT . . 3456489 MDC1 . GRCh38 chr6 30704352 30704352 + Missense_Mutation SNP G G T rs1213201757 7316-931 BS_YKD3WYFB G G c.4831C>A p.Pro1611Thr p.P1611T ENST00000376406 10/15 44 30 10 31 28 1 MDC1,missense_variant,p.Pro1611Thr,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 5479/7576 4831/6270 1611/2089 P/T Cca/Aca rs1213201757 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 deleterious(0.03) possibly_damaging(0.784) 10/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GGC . . 30704352 NT5E . GRCh38 chr6 85450170 85450170 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.31A>C p.Thr11Pro p.T11P ENST00000257770 1/9 40 28 5 36 35 0 NT5E,missense_variant,p.Thr11Pro,ENST00000369651,NM_001204813.1;NT5E,missense_variant,p.Thr11Pro,ENST00000257770,NM_002526.3;NT5E,missense_variant,p.Thr11Pro,ENST00000369646,;,regulatory_region_variant,,ENSR00000199700,; C ENSG00000135318 ENST00000257770 Transcript missense_variant 80/3548 31/1725 11/574 T/P Acg/Ccg 1 1 NT5E HGNC HGNC:8021 protein_coding YES CCDS5002.1 ENSP00000257770 P21589 UPI0000124F48 NM_002526.3 tolerated(0.3) benign(0) 1/9 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS GAC . . 85450170 CRYBG1 . GRCh38 chr6 106512745 106512745 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.404A>C p.Lys135Thr p.K135T ENST00000369066 1/20 77 63 10 37 36 0 CRYBG1,missense_variant,p.Lys543Thr,ENST00000633556,;CRYBG1,missense_variant,p.Lys135Thr,ENST00000369066,NM_001624.3;,regulatory_region_variant,,ENSR00000200633,; C ENSG00000112297 ENST00000369066 Transcript missense_variant 891/7553 404/5172 135/1723 K/T aAg/aCg 1 1 CRYBG1 HGNC HGNC:356 protein_coding YES CCDS34506.1 ENSP00000358062 Q9Y4K1 UPI000013C91D NM_001624.3 deleterious(0) benign(0.42) 1/20 hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF2,mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 106512745 GPR6 . GRCh38 chr6 109979209 109979209 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.142A>C p.Thr48Pro p.T48P ENST00000414000 3/3 66 51 11 28 27 1 GPR6,missense_variant,p.Thr48Pro,ENST00000414000,NM_001286099.1;GPR6,missense_variant,p.Thr33Pro,ENST00000275169,NM_005284.4;,regulatory_region_variant,,ENSR00000322481,; C ENSG00000146360 ENST00000414000 Transcript missense_variant 436/1945 142/1134 48/377 T/P Acg/Ccg 1 1 GPR6 HGNC HGNC:4515 protein_coding YES CCDS69172.1 ENSP00000406986 P46095 UPI0001AE72E0 NM_001286099.1 tolerated_low_confidence(0.21) benign(0) 3/3 hmmpanther:PTHR22750:SF19,hmmpanther:PTHR22750,Prints_domain:PR00649 MODERATE 1 SNV 2 PASS CAC . . 109979209 SOGA3 . GRCh38 chr6 127516099 127516099 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.516A>C p.Glu172Asp p.E172D ENST00000525778 2/7 49 33 9 30 28 0 SOGA3,missense_variant,p.Glu172Asp,ENST00000525778,NM_001012279.2;SOGA3,missense_variant,p.Glu172Asp,ENST00000465909,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;AL096711.2,missense_variant,p.Glu172Asp,ENST00000481848,;,regulatory_region_variant,,ENSR00000202443,; G ENSG00000214338 ENST00000525778 Transcript missense_variant 1262/4077 516/2844 172/947 E/D gaA/gaC 1 -1 SOGA3 HGNC HGNC:21494 protein_coding YES CCDS43505.1 ENSP00000434570 Q5TF21 UPI0000419273 NM_001012279.2 tolerated_low_confidence(0.27) benign(0.006) 2/7 hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTT . . 127516099 SAMD5 . GRCh38 chr6 147509197 147509197 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.269T>G p.Val90Gly p.V90G ENST00000367474 1/2 51 44 7 28 28 0 SAMD5,missense_variant,p.Val90Gly,ENST00000367474,NM_001030060.2;SAMD5,upstream_gene_variant,,ENST00000566741,;,regulatory_region_variant,,ENSR00000323616,; G ENSG00000203727 ENST00000367474 Transcript missense_variant 271/6089 269/522 90/173 V/G gTc/gGc 1 1 SAMD5 HGNC HGNC:21180 protein_coding YES CCDS34548.1 ENSP00000356444 Q5TGI4 UPI000022CCF8 NM_001030060.2 tolerated(0.53) benign(0.075) 1/2 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 2 PASS GTC . . 147509197 LRP11 . GRCh38 chr6 149837422 149837422 + Missense_Mutation SNP C C A novel 7316-931 BS_YKD3WYFB C C c.955G>T p.Asp319Tyr p.D319Y ENST00000239367 4/7 47 19 26 31 30 0 LRP11,missense_variant,p.Asp319Tyr,ENST00000239367,NM_032832.5;LRP11,upstream_gene_variant,,ENST00000463728,; A ENSG00000120256 ENST00000239367 Transcript missense_variant 961/3260 955/1503 319/500 D/Y Gat/Tat 1 -1 LRP11 HGNC HGNC:16936 protein_coding YES CCDS5220.1 ENSP00000239367 Q86VZ4 UPI0000042403 NM_032832.5 deleterious(0) probably_damaging(0.997) 4/7 PROSITE_profiles:PS50068,cd00112,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF170,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424 MODERATE 1 SNV 1 PASS TCG . . 149837422 DACT2 . GRCh38 chr6 168308850 168308850 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.907T>G p.Phe303Val p.F303V ENST00000366795 4/4 49 40 8 32 31 0 DACT2,missense_variant,p.Phe303Val,ENST00000366795,NM_214462.4;DACT2,missense_variant,p.Phe133Val,ENST00000610183,NM_001286350.1;DACT2,intron_variant,,ENST00000366796,NM_001286351.1;DACT2,intron_variant,,ENST00000607983,; C ENSG00000164488 ENST00000366795 Transcript missense_variant 996/2942 907/2325 303/774 F/V Ttc/Gtc 1 -1 DACT2 HGNC HGNC:21231 protein_coding YES CCDS47519.1 ENSP00000355760 Q5SW24 UPI00001D8145 NM_214462.4 tolerated(0.52) benign(0.006) 4/4 Pfam_domain:PF15268,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF13,mobidb-lite MODERATE 1 SNV 2 PASS AAC . . 168308850 FAM120B . GRCh38 chr6 170318781 170318781 + Missense_Mutation SNP A A T 7316-931 BS_YKD3WYFB A A c.1460A>T p.Tyr487Phe p.Y487F ENST00000537664 2/11 55 37 9 41 40 0 FAM120B,missense_variant,p.Tyr464Phe,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Tyr476Phe,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Tyr487Phe,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; T ENSG00000112584 ENST00000537664 Transcript missense_variant 1545/3212 1460/2802 487/933 Y/F tAt/tTt COSM5650900,COSM5650899 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(0.68) benign(0.024) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 1,1 MODERATE 1 SNV 2 1,1 PASS TAT . . 170318781 RADIL . GRCh38 chr7 4803556 4803556 + Missense_Mutation SNP A A C 7316-931 BS_YKD3WYFB A A c.2489T>G p.Val830Gly p.V830G ENST00000399583 11/15 66 46 10 36 34 0 RADIL,missense_variant,p.Val830Gly,ENST00000399583,NM_018059.4;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000472999,;RADIL,downstream_gene_variant,,ENST00000469399,; C ENSG00000157927 ENST00000399583 Transcript missense_variant 2677/3689 2489/3228 830/1075 V/G gTg/gGg COSM5662313 1 -1 RADIL HGNC HGNC:22226 protein_coding YES CCDS43544.1 ENSP00000382492 Q96JH8 UPI0000E0A787 NM_018059.4 tolerated(0.37) benign(0) 11/15 hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3 1 MODERATE 1 SNV 5 1 PASS CAC . . 4803556 VWDE . GRCh38 chr7 12337272 12337272 + Missense_Mutation SNP G G T novel 7316-931 BS_YKD3WYFB G G c.4367C>A p.Ala1456Asp p.A1456D ENST00000275358 25/29 67 53 14 41 40 0 VWDE,missense_variant,p.Ala1456Asp,ENST00000275358,NM_001135924.1;VWDE,missense_variant,p.Ala910Asp,ENST00000614403,;VWDE,splice_region_variant,,ENST00000452576,;VWDE,splice_region_variant,,ENST00000521169,;VWDE,upstream_gene_variant,,ENST00000485526,; T ENSG00000146530 ENST00000275358 Transcript missense_variant,splice_region_variant 4556/5260 4367/4773 1456/1590 A/D gCt/gAt 1 -1 VWDE HGNC HGNC:21897 protein_coding YES CCDS47544.1 ENSP00000275358 Q8N2E2 UPI00006C0B98 NM_001135924.1 deleterious(0) probably_damaging(0.998) 25/29 Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR45475 MODERATE 1 SNV 5 PASS AGC . . 12337272 PLEKHA8 . GRCh38 chr7 30028764 30028764 + Translation_Start_Site SNP T T G novel 7316-931 BS_YKD3WYFB T T c.2T>G p.Met1? p.M1? ENST00000449726 1/14 55 40 13 23 23 0 PLEKHA8,start_lost,p.Met1?,ENST00000449726,NM_001197026.1;PLEKHA8,start_lost,p.Met1?,ENST00000396259,NM_001350974.1;PLEKHA8,start_lost,p.Met1?,ENST00000258679,NM_032639.3;PLEKHA8,start_lost,p.Met1?,ENST00000622102,NM_001197027.1;PLEKHA8,start_lost,p.Met1?,ENST00000396257,;PLEKHA8,missense_variant,p.Met27Arg,ENST00000440706,;FKBP14,upstream_gene_variant,,ENST00000222803,NM_017946.3;AC007285.1,downstream_gene_variant,,ENST00000419103,;AC007285.1,downstream_gene_variant,,ENST00000422239,;PLEKHA8,intron_variant,,ENST00000483799,;FKBP14,upstream_gene_variant,,ENST00000412494,;FKBP14,upstream_gene_variant,,ENST00000419018,;FKBP14,upstream_gene_variant,,ENST00000479939,;,regulatory_region_variant,,ENSR00000210299,; G ENSG00000106086 ENST00000449726 Transcript start_lost 404/7835 2/1560 1/519 M/R aTg/aGg 1 1 PLEKHA8 HGNC HGNC:30037 protein_coding YES CCDS56473.1 ENSP00000397947 Q96JA3 UPI000020ECE0 NM_001197026.1 deleterious(0) probably_damaging(0.978) 1/14 PROSITE_profiles:PS50003,cd01247,hmmpanther:PTHR10219:SF45,hmmpanther:PTHR10219,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729 HIGH 1 SNV 1 PASS ATG . . 30028764 AEBP1 . GRCh38 chr7 44104667 44104667 + Translation_Start_Site SNP T T G novel 7316-931 BS_YKD3WYFB T T c.2T>G p.Met1? p.M1? ENST00000223357 1/21 46 31 10 28 27 0 AEBP1,start_lost,p.Met1?,ENST00000223357,NM_001129.4;AEBP1,upstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000453052,;,regulatory_region_variant,,ENSR00000211784,; G ENSG00000106624 ENST00000223357 Transcript start_lost 307/4081 2/3477 1/1158 M/R aTg/aGg 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 deleterious_low_confidence(0) benign(0.284) 1/21 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 44104667 NACAD . GRCh38 chr7 45083466 45083466 + Missense_Mutation SNP G G A rs201818400 7316-931 BS_YKD3WYFB G G c.2714C>T p.Pro905Leu p.P905L ENST00000490531 2/8 41 27 10 30 28 1 NACAD,missense_variant,p.Pro905Leu,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,; A ENSG00000136274 ENST00000490531 Transcript missense_variant 2734/4780 2714/4689 905/1562 P/L cCt/cTt rs201818400,COSM3718680 1 -1 NACAD HGNC HGNC:22196 protein_coding YES CCDS47582.1 ENSP00000420477 O15069 UPI00001D747D NM_001146334.1 tolerated(0.21) benign(0) 2/8 hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF1,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS AGG . . 0.06077 0.2529 0.1036 0.02042 0.1541 0.004857 0.04472 0.07185 0.06779 45083466 ZNF117 . GRCh38 chr7 64978480 64978480 + Missense_Mutation SNP C C T rs534238909 7316-931 BS_YKD3WYFB C C c.1091G>A p.Gly364Glu p.G364E ENST00000282869 4/4 59 48 6 46 45 1 ZNF117,missense_variant,p.Gly364Glu,ENST00000282869,NM_015852.3;ZNF117,missense_variant,p.Gly364Glu,ENST00000620222,NM_001348050.1;ZNF117,intron_variant,,ENST00000610793,;ZNF117,downstream_gene_variant,,ENST00000487644,; T ENSG00000152926 ENST00000282869 Transcript missense_variant 2376/9080 1091/1452 364/483 G/E gGa/gAa rs534238909,COSM216070 1 -1 ZNF117 HGNC HGNC:12897 protein_coding YES CCDS43593.1 ENSP00000282869 Q03924 UPI000049E07A NM_015852.3 tolerated(1) benign(0) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF037113,PIRSF_domain:PIRSF037113,PIRSF_domain:PIRSF037113,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,hmmpanther:PTHR24384:SF134,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0026 0.0045 0.0029 0.005 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 0.0001116 6.725e-05 0.001529 64978480 CALCR . GRCh38 chr7 93426570 93426570 + Missense_Mutation SNP C C T 7316-931 BS_YKD3WYFB C C c.1313G>A p.Arg438His p.R438H ENST00000359558 16/16 125 97 26 44 42 1 CALCR,missense_variant,p.Arg438His,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Arg420His,ENST00000421592,;CALCR,missense_variant,p.Arg404His,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Arg404His,ENST00000426151,NM_001742.3;CALCR,3_prime_UTR_variant,,ENST00000360249,;CALCR,3_prime_UTR_variant,,ENST00000423724,;CALCR,3_prime_UTR_variant,,ENST00000415529,; T ENSG00000004948 ENST00000359558 Transcript missense_variant 1613/3696 1313/1527 438/508 R/H cGc/cAc COSM1247252,COSM1247253 1 -1 CALCR HGNC HGNC:1440 protein_coding YES CCDS55125.1 ENSP00000352561 A0A0A0MRG0 UPI0001B8380B NM_001164737.1 deleterious(0) probably_damaging(0.998) 16/16 Gene3D:1.20.1070.10,Prints_domain:PR01350,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84,Superfamily_domains:SSF81321,cd15274 1,1 MODERATE 1 SNV 5 1,1 1 PASS GCG . . 93426570 TRRAP . GRCh38 chr7 99012271 99012271 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.11496A>C p.Glu3832Asp p.E3832D ENST00000359863 72/72 115 95 14 29 29 0 TRRAP,missense_variant,p.Glu3832Asp,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Glu3821Asp,ENST00000628380,;TRRAP,missense_variant,p.Glu3803Asp,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Glu3821Asp,ENST00000446306,;TRRAP,missense_variant,p.Glu3561Asp,ENST00000456197,;TRRAP,upstream_gene_variant,,ENST00000468960,;TRRAP,missense_variant,p.Glu1317Asp,ENST00000360902,; C ENSG00000196367 ENST00000359863 Transcript missense_variant 11705/12677 11496/11580 3832/3859 E/D gaA/gaC 1 1 TRRAP HGNC HGNC:12347 protein_coding YES CCDS59066.1 ENSP00000352925 Q9Y4A5 UPI00004575B4 NM_001244580.1 tolerated(0.33) benign(0.009) 72/72 PROSITE_profiles:PS51190,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1,SMART_domains:SM01343 MODERATE 1 SNV 1 1 PASS AAA . . 99012271 MUC3A . GRCh38 chr7 100959950 100959950 + Missense_Mutation SNP C C G rs774914006 7316-931 BS_YKD3WYFB C C c.8171C>G p.Ser2724Cys p.S2724C ENST00000379458 2/12 172 145 17 71 69 0 MUC3A,missense_variant,p.Ser2724Cys,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Ser2724Cys,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.Ser663Cys,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 8241/11226 8171/9972 2724/3323 S/C tCc/tGc rs774914006 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 deleterious_low_confidence(0) possibly_damaging(0.837) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22 MODERATE SNV 5 PASS TCC . . 1.297e-05 2.563e-05 100959950 MUC17 . GRCh38 chr7 101039952 101039952 + Missense_Mutation SNP A A G rs151242026 7316-931 BS_YKD3WYFB A A c.8536A>G p.Lys2846Glu p.K2846E ENST00000306151 3/13 109 80 12 40 39 0 MUC17,missense_variant,p.Lys2846Glu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Lys2846Glu,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 8600/14247 8536/13482 2846/4493 K/E Aaa/Gaa rs151242026 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.57) benign(0.003) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAA . . 3.694e-05 0.0005245 5.829e-05 101039952 MUC17 . GRCh38 chr7 101040240 101040240 + Missense_Mutation SNP G G A rs150470478 7316-931 BS_YKD3WYFB G G c.8824G>A p.Gly2942Ser p.G2942S ENST00000306151 3/13 113 85 8 52 50 1 MUC17,missense_variant,p.Gly2942Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2942Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 8888/14247 8824/13482 2942/4493 G/S Ggt/Agt rs150470478,COSM743546 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.026) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CGG . . 3.327e-05 7.705e-05 0.0003307 1.005e-05 101040240 MUC17 . GRCh38 chr7 101041828 101041828 + Missense_Mutation SNP C C T novel 7316-931 BS_YKD3WYFB C C c.10412C>T p.Ala3471Val p.A3471V ENST00000306151 3/13 101 80 9 42 40 0 MUC17,missense_variant,p.Ala3471Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala3471Val,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 10476/14247 10412/13482 3471/4493 A/V gCc/gTc 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.06) possibly_damaging(0.689) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS GCC . . 101041828 IMPDH1 . GRCh38 chr7 128409849 128409849 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.53T>G p.Val18Gly p.V18G ENST00000338791 1/17 99 87 11 34 34 0 IMPDH1,missense_variant,p.Val18Gly,ENST00000338791,NM_000883.3;IMPDH1,missense_variant,p.Val18Gly,ENST00000354269,NM_001102605.1;IMPDH1,missense_variant,p.Val18Gly,ENST00000348127,NM_001304521.1,NM_183243.2;IMPDH1,missense_variant,p.Val18Gly,ENST00000419067,NM_001142576.1;IMPDH1,missense_variant,p.Val18Gly,ENST00000497868,;IMPDH1,missense_variant,p.Val18Gly,ENST00000489263,;IMPDH1,5_prime_UTR_variant,,ENST00000626419,;IMPDH1,upstream_gene_variant,,ENST00000470772,NM_001142573.1;IMPDH1,upstream_gene_variant,,ENST00000480861,NM_001142574.1;IMPDH1,upstream_gene_variant,,ENST00000496200,NM_001142575.1;IMPDH1,missense_variant,p.Val18Gly,ENST00000473463,;IMPDH1,non_coding_transcript_exon_variant,,ENST00000491376,;IMPDH1,upstream_gene_variant,,ENST00000469328,;IMPDH1,upstream_gene_variant,,ENST00000484496,;IMPDH1,upstream_gene_variant,,ENST00000496487,;,regulatory_region_variant,,ENSR00000217741,; C ENSG00000106348 ENST00000338791 Transcript missense_variant 404/2881 53/1800 18/599 V/G gTt/gGt 1 -1 IMPDH1 HGNC HGNC:6052 protein_coding YES CCDS34749.1 ENSP00000345096 P20839 UPI00001BDC74 NM_000883.3 deleterious_low_confidence(0.01) benign(0) 1/17 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 2 1 PASS AAC . . 128409849 FLNC . GRCh38 chr7 128840062 128840062 + Missense_Mutation SNP T T A rs1459161208 7316-931 BS_YKD3WYFB T T c.1451T>A p.Leu484Gln p.L484Q ENST00000325888 9/48 75 64 8 46 46 0 FLNC,missense_variant,p.Leu484Gln,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Leu484Gln,ENST00000346177,NM_001127487.1;FLNC,upstream_gene_variant,,ENST00000388853,; A ENSG00000128591 ENST00000325888 Transcript missense_variant 1712/9188 1451/8178 484/2725 L/Q cTg/cAg rs1459161208 1 1 FLNC HGNC HGNC:3756 protein_coding YES CCDS43644.1 ENSP00000327145 Q14315 UPI000006DE6D NM_001458.4 deleterious(0.01) probably_damaging(0.989) 9/48 Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR43998,hmmpanther:PTHR43998:SF4,SMART_domains:SM00557,Superfamily_domains:SSF81296 MODERATE 1 SNV 1 1 PASS CTG . . 4.063e-06 5.798e-05 128840062 KCP . GRCh38 chr7 128879815 128879815 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.3947A>C p.Asn1316Thr p.N1316T ENST00000610776 36/40 114 102 9 37 36 0 KCP,missense_variant,p.Asn1316Thr,ENST00000610776,;KCP,missense_variant,p.Asn1256Thr,ENST00000613019,;KCP,missense_variant,p.Asn1192Thr,ENST00000620378,NM_001135914.1;KCP,non_coding_transcript_exon_variant,,ENST00000492679,;KCP,intron_variant,,ENST00000611280,;KCP,upstream_gene_variant,,ENST00000460528,;,regulatory_region_variant,,ENSR00000217792,; G ENSG00000135253 ENST00000610776 Transcript missense_variant 3990/5108 3947/4887 1316/1628 N/T aAt/aCt 1 -1 KCP HGNC HGNC:17585 protein_coding YES ENSP00000479679 A0A087WVT8 UPI0004620CE8 tolerated(0.16) probably_damaging(0.991) 36/40 Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF280,SMART_domains:SM00216 MODERATE 1 SNV 5 PASS ATT . . 128879815 MKRN1 . GRCh38 chr7 140479229 140479229 + Missense_Mutation SNP A A C rs528273101 7316-931 BS_YKD3WYFB A A c.116T>G p.Leu39Arg p.L39R ENST00000255977 1/8 79 56 13 39 38 1 MKRN1,missense_variant,p.Leu39Arg,ENST00000255977,NM_013446.3;MKRN1,missense_variant,p.Leu39Arg,ENST00000443720,NM_001145125.1,NM_001291663.1;MKRN1,upstream_gene_variant,,ENST00000467513,;MKRN1,upstream_gene_variant,,ENST00000471104,;MKRN1,upstream_gene_variant,,ENST00000473444,;MKRN1,upstream_gene_variant,,ENST00000474576,;MKRN1,upstream_gene_variant,,ENST00000480552,;MKRN1,upstream_gene_variant,,ENST00000494939,;MKRN1,non_coding_transcript_exon_variant,,ENST00000481705,;MKRN1,missense_variant,p.Leu39Arg,ENST00000496169,;MKRN1,missense_variant,p.Leu39Arg,ENST00000495305,;MKRN1,missense_variant,p.Leu39Arg,ENST00000498535,;MKRN1,non_coding_transcript_exon_variant,,ENST00000475010,;MKRN1,upstream_gene_variant,,ENST00000475180,;,regulatory_region_variant,,ENSR00000219083,; C ENSG00000133606 ENST00000255977 Transcript missense_variant 341/3151 116/1449 39/482 L/R cTg/cGg rs528273101,COSM6373583,COSM5559504 1 -1 MKRN1 HGNC HGNC:7112 protein_coding YES CCDS5860.1 ENSP00000255977 Q9UHC7 UPI0000001C5F NM_013446.3 tolerated(0.67) benign(0.007) 1/8 hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF37,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CAG . . 140479229 KIAA1147 . GRCh38 chr7 141702152 141702152 + Translation_Start_Site SNP A A C novel 7316-931 BS_YKD3WYFB A A c.2T>G p.Met1? p.M1? ENST00000536163 1/9 56 45 9 42 42 0 KIAA1147,start_lost,p.Met1?,ENST00000536163,NM_001080392.1;KIAA1147,upstream_gene_variant,,ENST00000482493,;WEE2-AS1,downstream_gene_variant,,ENST00000459753,;WEE2-AS1,downstream_gene_variant,,ENST00000462383,;WEE2-AS1,downstream_gene_variant,,ENST00000465110,;WEE2-AS1,downstream_gene_variant,,ENST00000471512,;WEE2-AS1,downstream_gene_variant,,ENST00000478332,;WEE2-AS1,downstream_gene_variant,,ENST00000488785,;WEE2-AS1,downstream_gene_variant,,ENST00000495800,;,regulatory_region_variant,,ENSR00000219187,; C ENSG00000257093 ENST00000536163 Transcript start_lost 2/7296 2/1368 1/455 M/R aTg/aGg 1 -1 KIAA1147 HGNC HGNC:29472 protein_coding YES CCDS47726.1 ENSP00000445768 A4D1U4 UPI0000251F74 NM_001080392.1 deleterious_low_confidence(0) benign(0.063) 1/9 hmmpanther:PTHR31017,hmmpanther:PTHR31017:SF2,mobidb-lite HIGH 1 SNV 1 PASS CAT . . 141702152 TRBV10-3 . GRCh38 chr7 142544486 142544486 + Missense_Mutation SNP C C T rs1209724836 7316-931 BS_YKD3WYFB C C c.145C>T p.Arg49Cys p.R49C ENST00000611462 2/2 102 29 68 25 24 0 TRBV10-3,missense_variant,p.Arg49Cys,ENST00000611462,; T ENSG00000275791 ENST00000611462 Transcript missense_variant 169/368 145/344 49/114 R/C Cgc/Tgc rs1209724836 1 1 TRBV10-3 HGNC HGNC:12179 TR_V_gene YES ENSP00000479267 A0A0K0K1G6 UPI0003F47EA8 deleterious(0.01) benign(0.111) 2/2 MODERATE 1 SNV PASS CCG . . 142544486 ZNF282 . GRCh38 chr7 149223928 149223928 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.1297A>C p.Ile433Leu p.I433L ENST00000610704 8/8 97 63 16 27 26 1 ZNF282,missense_variant,p.Ile433Leu,ENST00000610704,NM_003575.3;ZNF282,missense_variant,p.Ile433Leu,ENST00000479907,NM_001303481.1;ZNF282,non_coding_transcript_exon_variant,,ENST00000470381,; C ENSG00000170265 ENST00000610704 Transcript missense_variant 1402/3722 1297/2016 433/671 I/L Atc/Ctc 1 1 ZNF282 HGNC HGNC:13076 protein_coding YES CCDS5895.1 ENSP00000477841 Q9UDV7 A0A090N8Y3 UPI000013D255 NM_003575.3 tolerated(0.81) benign(0) 8/8 hmmpanther:PTHR44963,mobidb-lite MODERATE 1 SNV 1 PASS CAT . . 149223928 ZNF777 . GRCh38 chr7 149432107 149432107 + Missense_Mutation SNP A A T rs1176696177 7316-931 BS_YKD3WYFB A A c.2165T>A p.Phe722Tyr p.F722Y ENST00000247930 6/6 110 87 12 41 41 0 ZNF777,missense_variant,p.Phe722Tyr,ENST00000247930,NM_015694.2; T ENSG00000196453 ENST00000247930 Transcript missense_variant 2489/3233 2165/2496 722/831 F/Y tTc/tAc rs1176696177,COSM6214151 1 -1 ZNF777 HGNC HGNC:22213 protein_coding YES CCDS43675.1 ENSP00000247930 Q9ULD5 UPI0000E9B152 NM_015694.2 tolerated(1) benign(0.104) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR44987,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GAA . . 149432107 ZNF775 . GRCh38 chr7 150397665 150397665 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.1184T>G p.Val395Gly p.V395G ENST00000329630 3/3 97 81 13 37 37 0 ZNF775,missense_variant,p.Val395Gly,ENST00000329630,NM_173680.3;AC073111.3,downstream_gene_variant,,ENST00000478789,;ZNF775,downstream_gene_variant,,ENST00000490973,;AC073111.4,intron_variant,,ENST00000483664,;AC073111.4,intron_variant,,ENST00000486297,;AC073111.5,upstream_gene_variant,,ENST00000641330,; G ENSG00000196456 ENST00000329630 Transcript missense_variant 1291/2257 1184/1614 395/537 V/G gTt/gGt 1 1 ZNF775 HGNC HGNC:28501 protein_coding YES CCDS43678.1 ENSP00000330838 Q96BV0 UPI00001BDA25 NM_173680.3 tolerated(0.25) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24377:SF614,hmmpanther:PTHR24377,Gene3D:3.30.160.60 MODERATE 1 SNV 1 PASS GTT . . 150397665 RP1L1 . GRCh38 chr8 10607939 10607939 + Missense_Mutation SNP G G T rs368139274 7316-931 BS_YKD3WYFB G G c.6159C>A p.Asp2053Glu p.D2053E ENST00000382483 4/4 35 26 7 39 35 1 RP1L1,missense_variant,p.Asp2053Glu,ENST00000382483,NM_178857.5; T ENSG00000183638 ENST00000382483 Transcript missense_variant 6383/7973 6159/7203 2053/2400 D/E gaC/gaA rs368139274,COSM3269875 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(1) benign(0) 4/4 mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 uncertain_significance 0,1 MODERATE 1 SNV 1 1,1 1 PASS CGT . . 10607939 XKR6 . GRCh38 chr8 11201022 11201022 + Missense_Mutation SNP T T G rs933596769 7316-931 BS_YKD3WYFB T T c.318A>C p.Gln106His p.Q106H ENST00000416569 1/3 40 27 7 47 47 0 XKR6,missense_variant,p.Gln106His,ENST00000416569,NM_173683.3;XKR6,missense_variant,p.Gln106His,ENST00000297303,;AF131215.7,upstream_gene_variant,,ENST00000602443,;XKR6,upstream_gene_variant,,ENST00000529336,;,regulatory_region_variant,,ENSR00000221033,; G ENSG00000171044 ENST00000416569 Transcript missense_variant 345/3382 318/1926 106/641 Q/H caA/caC rs933596769 1 -1 XKR6 HGNC HGNC:27806 protein_coding YES CCDS5978.2 ENSP00000416707 Q5GH73 UPI00004C7A9D NM_173683.3 tolerated(0.09) benign(0) 1/3 hmmpanther:PTHR16024,hmmpanther:PTHR16024:SF9,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 11201022 MICU3 . GRCh38 chr8 17027423 17027423 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.144T>G p.Asp48Glu p.D48E ENST00000318063 1/15 36 24 7 33 31 0 MICU3,missense_variant,p.Asp48Glu,ENST00000318063,NM_181723.2,NM_001349810.1;MICU3,upstream_gene_variant,,ENST00000522235,;,regulatory_region_variant,,ENSR00000221475,; G ENSG00000155970 ENST00000318063 Transcript missense_variant 186/3992 144/1593 48/530 D/E gaT/gaG 1 1 MICU3 HGNC HGNC:27820 protein_coding YES CCDS5999.1 ENSP00000321455 Q86XE3 UPI000000DAE7 NM_181723.2,NM_001349810.1 tolerated_low_confidence(0.89) benign(0) 1/15 Low_complexity_(Seg):seg,hmmpanther:PTHR12294:SF10,hmmpanther:PTHR12294 MODERATE 1 SNV 1 PASS ATG . . 17027423 PRSS3 . GRCh38 chr9 33796705 33796705 + Missense_Mutation SNP C C G rs149026348 7316-931 BS_YKD3WYFB C C c.274C>G p.Leu92Val p.L92V ENST00000361005 2/5 75 67 8 34 34 0 PRSS3,missense_variant,p.Leu49Val,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Leu92Val,ENST00000361005,NM_007343.3;PRSS3,missense_variant,p.Leu35Val,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Leu28Val,ENST00000429677,NM_001197098.1;PRSS3,missense_variant,p.Leu47Val,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00000334924,; G ENSG00000010438 ENST00000361005 Transcript missense_variant 274/966 274/915 92/304 L/V Ctc/Gtc rs149026348,COSM4381953,COSM4381954,COSM4381955,COSM4381956 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 tolerated(1) benign(0.02) 2/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS TCT . . 33796705 SEMA4D . GRCh38 chr9 89497915 89497915 + Splice_Region SNP T T G rs1408285900 7316-931 BS_YKD3WYFB T T c.-307+4A>C ENST00000339861 39 27 9 28 28 0 SEMA4D,splice_region_variant,,ENST00000339861,;SEMA4D,splice_region_variant,,ENST00000422704,;SEMA4D,splice_region_variant,,ENST00000455551,;SEMA4D,upstream_gene_variant,,ENST00000420670,;,regulatory_region_variant,,ENSR00000237531,; G ENSG00000187764 ENST00000339861 Transcript splice_region_variant,intron_variant rs1408285900 1 -1 SEMA4D HGNC HGNC:10732 protein_coding CCDS47991.1 ENSP00000344923 Q92854 UPI000185BDB1 1/18 LOW SNV 5 PASS CTT . . 89497915 ZNF484 . GRCh38 chr9 92848383 92848383 + Missense_Mutation SNP G G C rs894815282 7316-931 BS_YKD3WYFB G G c.410C>G p.Pro137Arg p.P137R ENST00000395505 4/4 50 29 18 42 42 0 ZNF484,missense_variant,p.Pro99Arg,ENST00000395506,NM_001261460.1,NM_001261459.1;ZNF484,missense_variant,p.Pro137Arg,ENST00000395505,NM_001261458.1;ZNF484,missense_variant,p.Pro135Arg,ENST00000375495,NM_031486.2;ZNF484,missense_variant,p.Pro99Arg,ENST00000332591,NM_001007101.2;ANKRD19P,intron_variant,,ENST00000473204,; C ENSG00000127081 ENST00000395505 Transcript missense_variant 608/3960 410/2565 137/854 P/R cCt/cGt rs894815282 1 -1 ZNF484 HGNC HGNC:23385 protein_coding YES CCDS59136.1 ENSP00000378881 Q5JVG2 UPI00017A7C2E NM_001261458.1 tolerated(0.42) benign(0.025) 4/4 Gene3D:2.20.28.10,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF83 MODERATE SNV 2 PASS AGG . . 92848383 NR4A3 . GRCh38 chr9 99828484 99828484 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.475T>G p.Phe159Val p.F159V ENST00000618101 4/9 38 28 9 26 26 0 NR4A3,missense_variant,p.Phe159Val,ENST00000618101,NM_173200.2;NR4A3,missense_variant,p.Phe159Val,ENST00000330847,;NR4A3,missense_variant,p.Phe148Val,ENST00000395097,NM_006981.3;NR4A3,missense_variant,p.Phe148Val,ENST00000338488,NM_173199.2; G ENSG00000119508 ENST00000618101 Transcript missense_variant 1243/5706 475/1914 159/637 F/V Ttc/Gtc 1 1 NR4A3 HGNC HGNC:7982 protein_coding YES CCDS6742.1 ENSP00000482027 Q92570 UPI0000160FE4 NM_173200.2 deleterious(0.01) benign(0.194) 4/9 Gene3D:1.10.565.10,Prints_domain:PR01284,hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS CTT . . 99828484 BAMBI . GRCh38 chr10 28677971 28677971 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.74A>C p.Lys25Thr p.K25T ENST00000375533 1/3 56 45 7 47 47 0 BAMBI,missense_variant,p.Lys25Thr,ENST00000375533,NM_012342.2;BAMBI,splice_region_variant,,ENST00000497699,;,regulatory_region_variant,,ENSR00000025996,; C ENSG00000095739 ENST00000375533 Transcript missense_variant,splice_region_variant 630/1877 74/783 25/260 K/T aAa/aCa 1 1 BAMBI HGNC HGNC:30251 protein_coding YES CCDS7162.1 ENSP00000364683 Q13145 UPI0000130265 NM_012342.2 tolerated(0.2) benign(0.081) 1/3 hmmpanther:PTHR15505:SF1,hmmpanther:PTHR15505,PIRSF_domain:PIRSF037456,Pfam_domain:PF06211 MODERATE 1 SNV 1 PASS AAA . . 28677971 AC012560.1 . GRCh38 chr10 78238307 78238307 + Splice_Region SNP G G A novel 7316-931 BS_YKD3WYFB G G n.50+3G>A ENST00000421324 63 51 12 37 35 0 AC012560.1,splice_region_variant,,ENST00000421324,;LINC00595,intron_variant,,ENST00000634389,;AC012560.1,intron_variant,,ENST00000634930,;LINC00595,intron_variant,,ENST00000634946,;LINC00595,intron_variant,,ENST00000635180,;LINC00595,intron_variant,,ENST00000635422,;LINC00595,intron_variant,,ENST00000635545,; A ENSG00000282863 ENST00000421324 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 AC012560.1 Clone_based_ensembl_gene lincRNA 1/2 LOW 1 SNV 1 PASS TGA . . 78238307 RPP30 . GRCh38 chr10 90902242 90902243 + Splice_Site DEL GG GG - rs1311894811 7316-931 BS_YKD3WYFB GG GG c.797_798del p.Trp266PhefsTer36 p.X266_splice ENST00000413330 12/13 69 60 5 56 55 0 RPP30,splice_acceptor_variant,p.Trp266PhefsTer36,ENST00000413330,NM_001104546.1;RPP30,downstream_gene_variant,,ENST00000371703,NM_006413.4;RPP30,downstream_gene_variant,,ENST00000414836,;RPP30,splice_acceptor_variant,,ENST00000489806,;RPP30,splice_acceptor_variant,,ENST00000470933,;RPP30,intron_variant,,ENST00000480406,;RPP30,downstream_gene_variant,,ENST00000466462,;RPP30,downstream_gene_variant,,ENST00000479678,;RPP30,downstream_gene_variant,,ENST00000487998,; - ENSG00000148688 ENST00000413330 Transcript splice_acceptor_variant,coding_sequence_variant ?-832/1004 ?-797/969 ?-266/322 rs1311894811 1 1 RPP30 HGNC HGNC:17688 protein_coding YES CCDS44458.1 ENSP00000389182 P78346 UPI00001F9394 NM_001104546.1 12/13 11/12 HIGH 1 deletion 5 1 PASS CAGGG . . 90902241 CFAP46 . GRCh38 chr10 132918385 132918385 + Splice_Region SNP T T C rs201714283 7316-931 BS_YKD3WYFB T T c.1986+8A>G ENST00000368586 37 28 7 29 26 1 CFAP46,splice_region_variant,,ENST00000368586,NM_001200049.2;CFAP46,upstream_gene_variant,,ENST00000486104,; C ENSG00000171811 ENST00000368586 Transcript splice_region_variant,intron_variant rs201714283,COSM4175642,COSM4175641 1 -1 CFAP46 HGNC HGNC:25247 protein_coding YES CCDS58101.1 ENSP00000357575 Q8IYW2 UPI0001B79116 NM_001200049.2 16/57 0.0042 0.0083 0.0029 0.002 0.005 0.001 0,1,1 LOW 1 SNV 5 0,1,1 PASS ATG . . 0.00383 0.003147 0.002929 0.001088 0.003704 0.00282 0.004639 0.004212 0.004861 132918385 PGGHG . GRCh38 chr11 293591 293591 + Splice_Region SNP T T G novel 7316-931 BS_YKD3WYFB T T c.1481-3T>G ENST00000409548 70 60 9 33 32 0 PGGHG,splice_region_variant,,ENST00000409479,;PGGHG,splice_region_variant,,ENST00000409548,NM_025092.4;PGGHG,intron_variant,,ENST00000409655,;IFITM5,downstream_gene_variant,,ENST00000382614,NM_001025295.2;PGGHG,upstream_gene_variant,,ENST00000397660,;AC136475.3,downstream_gene_variant,,ENST00000525217,;AC136475.3,downstream_gene_variant,,ENST00000534742,;PGGHG,splice_region_variant,,ENST00000474221,;PGGHG,non_coding_transcript_exon_variant,,ENST00000476372,;PGGHG,downstream_gene_variant,,ENST00000482937,;PGGHG,downstream_gene_variant,,ENST00000529087,; G ENSG00000142102 ENST00000409548 Transcript splice_region_variant,intron_variant 1 1 PGGHG HGNC HGNC:26210 protein_coding YES CCDS31322.2 ENSP00000387185 Q32M88 A0A024R1Z9 UPI0000EE80CE NM_025092.4 9/13 LOW 1 SNV 1 PASS GTA . . 293591 MUC5AC . GRCh38 chr11 1187689 1187689 + Missense_Mutation SNP C C T rs748806016 7316-931 BS_YKD3WYFB C C c.9544C>T p.Pro3182Ser p.P3182S ENST00000621226 31/49 53 44 6 44 43 0 MUC5AC,missense_variant,p.Pro3182Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; T ENSG00000215182 ENST00000621226 Transcript missense_variant 9591/17448 9544/16965 3182/5654 P/S Cct/Tct rs748806016 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.84) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CCC . . 1187689 TMEM41B . GRCh38 chr11 9314383 9314383 + Missense_Mutation SNP A A C rs758485476 7316-931 BS_YKD3WYFB A A c.59T>G p.Val20Gly p.V20G ENST00000528080 1/7 67 51 11 35 33 1 TMEM41B,missense_variant,p.Val20Gly,ENST00000528080,NM_015012.3;TMEM41B,missense_variant,p.Val20Gly,ENST00000611268,;TMEM41B,missense_variant,p.Val20Gly,ENST00000527813,;TMEM41B,missense_variant,p.Val20Gly,ENST00000533723,NM_001165030.2;TMEM41B,missense_variant,p.Val20Gly,ENST00000524543,;TMEM41B,missense_variant,p.Val20Gly,ENST00000299596,;,regulatory_region_variant,,ENSR00000036581,;PRR13P2,upstream_gene_variant,,ENST00000533804,; C ENSG00000166471 ENST00000528080 Transcript missense_variant 398/3968 59/876 20/291 V/G gTg/gGg rs758485476 1 -1 TMEM41B HGNC HGNC:28948 protein_coding YES CCDS31424.1 ENSP00000433126 Q5BJD5 UPI00001C1EF6 NM_015012.3 tolerated_low_confidence(0.28) benign(0.007) 1/7 mobidb-lite MODERATE 1 SNV 1 PASS CAC . . 2.221e-05 0.0001591 9314383 PTPN5 . GRCh38 chr11 18742989 18742989 + Splice_Region SNP T T C rs1161270821 7316-931 BS_YKD3WYFB T T c.483+3A>G ENST00000358540 56 25 27 43 42 1 PTPN5,splice_region_variant,,ENST00000358540,NM_006906.1,NM_032781.3;PTPN5,splice_region_variant,,ENST00000396168,NM_001278238.1,NM_001278239.1;PTPN5,splice_region_variant,,ENST00000396170,NM_001039970.1,NM_001278236.1;PTPN5,splice_region_variant,,ENST00000477854,;AC103974.1,downstream_gene_variant,,ENST00000527285,;PTPN5,splice_region_variant,,ENST00000496201,; C ENSG00000110786 ENST00000358540 Transcript splice_region_variant,intron_variant rs1161270821 1 -1 PTPN5 HGNC HGNC:9657 protein_coding YES CCDS7845.1 ENSP00000351342 P54829 UPI00001AE663 NM_006906.1,NM_032781.3 6/14 LOW 1 SNV 1 PASS TTA . . 6.702e-06 1.745e-05 18742989 AHNAK . GRCh38 chr11 62526880 62526880 + Missense_Mutation SNP T T C rs1192693300 7316-931 BS_YKD3WYFB T T c.7537A>G p.Met2513Val p.M2513V ENST00000378024 5/5 70 61 5 41 41 0 AHNAK,missense_variant,p.Met2513Val,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; C ENSG00000124942 ENST00000378024 Transcript missense_variant 7812/18787 7537/17673 2513/5890 M/V Atg/Gtg rs1192693300,COSM1717998 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.52) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 2 0,1 PASS ATC . . 62526880 AHNAK . GRCh38 chr11 62530459 62530459 + Missense_Mutation SNP C C T rs200652890 7316-931 BS_YKD3WYFB C C c.3958G>A p.Ala1320Thr p.A1320T ENST00000378024 5/5 49 40 6 23 23 0 AHNAK,missense_variant,p.Ala1320Thr,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000528508,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000531324,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 4233/18787 3958/17673 1320/5890 A/T Gcc/Acc rs200652890,COSM5956278,COSM5956277 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.25) benign(0.013) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GCC . . 2.03e-05 0.0001739 1.79e-05 62530459 SLC16A7 . GRCh38 chr12 59596243 59596243 + Splice_Region SNP A A C novel 7316-931 BS_YKD3WYFB A A c.-130+7A>C ENST00000547379 64 47 11 37 35 0 SLC16A7,splice_region_variant,,ENST00000547379,;SLC16A7,splice_region_variant,,ENST00000549465,;SLC16A7,splice_region_variant,,ENST00000552432,NM_001270623.1,NM_001270622.1;SLC16A7,upstream_gene_variant,,ENST00000552024,;,regulatory_region_variant,,ENSR00000052877,; C ENSG00000118596 ENST00000547379 Transcript splice_region_variant,intron_variant 1 1 SLC16A7 HGNC HGNC:10928 protein_coding CCDS8961.1 ENSP00000448071 O60669 A0A024RBB2 UPI00000722FD 1/5 LOW 1 SNV 1 PASS TAC . . 59596243 ZIC2 . GRCh38 chr13 99982425 99982425 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.361T>G p.Phe121Val p.F121V ENST00000376335 1/3 43 27 11 38 37 0 ZIC2,missense_variant,p.Phe121Val,ENST00000376335,NM_007129.3;ZIC2,upstream_gene_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000477213,;ZIC2,upstream_gene_variant,,ENST00000481565,;ZIC2,upstream_gene_variant,,ENST00000490085,; G ENSG00000043355 ENST00000376335 Transcript missense_variant 654/2983 361/1599 121/532 F/V Ttc/Gtc 1 1 ZIC2 HGNC HGNC:12873 protein_coding YES CCDS9495.1 ENSP00000365514 O95409 A0A024RDY6 UPI000013C3DC NM_007129.3 deleterious(0.01) benign(0.182) 1/3 hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27 MODERATE 1 SNV 1 1 PASS GTT . . 99982425 OR4Q2 . GRCh38 chr14 20002548 20002548 + Missense_Mutation SNP G G A rs561401057 7316-931 BS_YKD3WYFB G G c.386G>A p.Arg129His p.R129H ENST00000622436 1/3 72 58 14 26 24 0 OR4Q2,missense_variant,p.Arg129His,ENST00000622436,;OR4Q2,missense_variant,p.Arg129His,ENST00000541415,; A ENSG00000196383 ENST00000622436 Transcript missense_variant 386/921 386/921 129/307 R/H cGc/cAc rs561401057 1 1 OR4Q2 HGNC HGNC:15359 protein_coding YES ENSP00000484287 P0C623 UPI0000D623C1 tolerated(0.05) benign(0.003) 1/3 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF82,Superfamily_domains:SSF81321,cd15938 0.0002 0.001 MODERATE 1 SNV PASS CGC . . 0.0002669 0.0003394 0.0004657 0.0001014 0.0004203 20002548 FOXG1 . GRCh38 chr14 28767713 28767713 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.434A>C p.Lys145Thr p.K145T ENST00000313071 1/1 46 27 11 38 37 0 FOXG1,missense_variant,p.Lys145Thr,ENST00000313071,NM_005249.4;LINC01551,upstream_gene_variant,,ENST00000399387,;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000637351,;FOXG1,downstream_gene_variant,,ENST00000637817,;,regulatory_region_variant,,ENSR00000067057,; C ENSG00000176165 ENST00000313071 Transcript missense_variant 2326/4890 434/1470 145/489 K/T aAg/aCg 1 1 FOXG1 HGNC HGNC:3811 protein_coding YES CCDS9636.1 ENSP00000339004 P55316 UPI00001AE46C NM_005249.4 tolerated_low_confidence(0.25) benign(0.19) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11829:SF316,hmmpanther:PTHR11829 MODERATE SNV 1 PASS AAG . . 28767713 TMEM229B . GRCh38 chr14 67515084 67515084 + Splice_Site SNP A A C novel 7316-931 BS_YKD3WYFB A A c.-192+2T>G ENST00000357461 64 52 12 41 39 0 TMEM229B,splice_donor_variant,,ENST00000357461,NM_182526.2,NM_001348548.1,NM_001348543.1;TMEM229B,splice_donor_variant,,ENST00000555994,;TMEM229B,splice_donor_variant,,ENST00000557779,;TMEM229B,intron_variant,,ENST00000554278,;TMEM229B,intron_variant,,ENST00000557006,NM_001348548.1,NM_001348541.1,NM_001348549.1,NM_001348547.1,NM_001348542.1,NM_001348546.1,NM_001348544.1;TMEM229B,intron_variant,,ENST00000555638,;,regulatory_region_variant,,ENSR00000069889,; C ENSG00000198133 ENST00000357461 Transcript splice_donor_variant 1 -1 TMEM229B HGNC HGNC:20130 protein_coding YES CCDS9783.1 ENSP00000350050 Q8NBD8 A0A024R699 UPI000006FC83 NM_182526.2,NM_001348548.1,NM_001348543.1 1/2 HIGH 1 SNV 2 PASS TAC . . 67515084 KCNK13 . GRCh38 chr14 90062206 90062206 + Translation_Start_Site SNP A A C novel 7316-931 BS_YKD3WYFB A A c.1A>C p.Met1? p.M1? ENST00000282146 1/2 38 27 7 33 33 0 KCNK13,start_lost,p.Met1?,ENST00000282146,NM_022054.3;,regulatory_region_variant,,ENSR00000071922,; C ENSG00000152315 ENST00000282146 Transcript start_lost 442/2522 1/1227 1/408 M/L Atg/Ctg 1 1 KCNK13 HGNC HGNC:6275 protein_coding YES CCDS9889.1 ENSP00000282146 Q9HB14 UPI0000127A55 NM_022054.3 tolerated_low_confidence(0.2) benign(0.01) 1/2 hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF57 HIGH 1 SNV 1 PASS CAT . . 90062206 DYNC1H1 . GRCh38 chr14 102027233 102027233 + Missense_Mutation SNP C C A novel 7316-931 BS_YKD3WYFB C C c.8831C>A p.Thr2944Asn p.T2944N ENST00000360184 45/78 58 27 30 38 38 0 DYNC1H1,missense_variant,p.Thr2944Asn,ENST00000360184,NM_001376.4;DYNC1H1,missense_variant,p.Thr289Asn,ENST00000645149,;DYNC1H1,missense_variant,p.Thr989Asn,ENST00000643508,;DYNC1H1,upstream_gene_variant,,ENST00000644881,;DYNC1H1,intron_variant,,ENST00000555204,;DYNC1H1,missense_variant,p.Thr379Asn,ENST00000645039,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000647366,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000647119,;DYNC1H1,upstream_gene_variant,,ENST00000554854,;DYNC1H1,upstream_gene_variant,,ENST00000642882,;DYNC1H1,downstream_gene_variant,,ENST00000643279,;DYNC1H1,upstream_gene_variant,,ENST00000645697,; A ENSG00000197102 ENST00000360184 Transcript missense_variant 9013/20003 8831/13941 2944/4646 T/N aCt/aAt 1 1 DYNC1H1 HGNC HGNC:2961 protein_coding YES CCDS9966.1 ENSP00000348965 Q14204 UPI00001B515A NM_001376.4 deleterious(0) probably_damaging(0.917) 45/78 Gene3D:3.40.50.300,PDB-ENSP_mappings:5nug.A,PDB-ENSP_mappings:5nug.B,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF314,SMART_domains:SM00382,Superfamily_domains:SSF52540,cd00009 MODERATE 1 SNV 1 1 PASS ACT . . 102027233 NPAP1 . GRCh38 chr15 24678180 24678180 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.2313A>C p.Gln771His p.Q771H ENST00000329468 1/1 40 26 5 39 38 0 NPAP1,missense_variant,p.Gln771His,ENST00000329468,NM_018958.2; C ENSG00000185823 ENST00000329468 Transcript missense_variant 2313/7526 2313/3471 771/1156 Q/H caA/caC 1 1 NPAP1 HGNC HGNC:1190 protein_coding YES CCDS10015.1 ENSP00000333735 Q9NZP6 UPI00001AFA1B NM_018958.2 tolerated(0.3) benign(0.014) 1/1 hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 24678180 RORA . GRCh38 chr15 60505554 60505554 + Missense_Mutation SNP G G T novel 7316-931 BS_YKD3WYFB G G c.995C>A p.Thr332Lys p.T332K ENST00000261523 7/12 68 50 18 38 37 0 RORA,missense_variant,p.Thr299Lys,ENST00000335670,NM_134261.2;RORA,missense_variant,p.Thr332Lys,ENST00000261523,NM_134260.2;RORA,missense_variant,p.Thr324Lys,ENST00000309157,NM_002943.3;RORA,missense_variant,p.Thr244Lys,ENST00000449337,NM_134262.2;RORA-AS1,intron_variant,,ENST00000501579,;RORA-AS1,intron_variant,,ENST00000558140,;RORA-AS1,intron_variant,,ENST00000558235,;RORA-AS1,intron_variant,,ENST00000559824,;RORA-AS1,upstream_gene_variant,,ENST00000559902,;RORA,downstream_gene_variant,,ENST00000559587,; T ENSG00000069667 ENST00000261523 Transcript missense_variant 1084/1951 995/1671 332/556 T/K aCg/aAg 1 -1 RORA HGNC HGNC:10258 protein_coding YES CCDS10179.1 ENSP00000261523 P35398 UPI0000134548 NM_134260.2 tolerated(0.66) benign(0.09) 7/12 Gene3D:1.10.565.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF311,Superfamily_domains:SSF48508,cd06939 MODERATE 1 SNV 1 PASS CGT . . 60505554 STRA6 . GRCh38 chr15 74181292 74181292 + Splice_Region SNP T T G novel 7316-931 BS_YKD3WYFB T T c.1801+3A>C ENST00000563965 69 60 8 38 38 0 STRA6,splice_region_variant,,ENST00000323940,NM_001142617.1;STRA6,splice_region_variant,,ENST00000395105,NM_022369.3;STRA6,splice_region_variant,,ENST00000416286,;STRA6,splice_region_variant,,ENST00000423167,NM_001142619.1;STRA6,splice_region_variant,,ENST00000449139,;STRA6,splice_region_variant,,ENST00000535552,NM_001199040.1;STRA6,splice_region_variant,,ENST00000563965,NM_001199042.1;STRA6,splice_region_variant,,ENST00000572785,;STRA6,splice_region_variant,,ENST00000574278,NM_001199041.1;STRA6,splice_region_variant,,ENST00000616000,NM_001142618.1;ISLR,downstream_gene_variant,,ENST00000249842,NM_005545.3;ISLR,downstream_gene_variant,,ENST00000395118,NM_201526.1;AC010931.3,upstream_gene_variant,,ENST00000561647,;STRA6,splice_region_variant,,ENST00000574439,;STRA6,splice_region_variant,,ENST00000545137,;STRA6,downstream_gene_variant,,ENST00000569936,;STRA6,downstream_gene_variant,,ENST00000575272,; G ENSG00000137868 ENST00000563965 Transcript splice_region_variant,intron_variant 1 -1 STRA6 HGNC HGNC:30650 protein_coding YES CCDS55973.1 ENSP00000456609 Q9BX79 UPI00015F460B NM_001199042.1 17/18 LOW 1 SNV 1 1 PASS TTA . . 74181292 ACAN . GRCh38 chr15 88856906 88856906 + Missense_Mutation SNP A A G rs200437529 7316-931 BS_YKD3WYFB A A c.4321A>G p.Thr1441Ala p.T1441A ENST00000439576 12/18 50 34 6 36 34 1 ACAN,missense_variant,p.Thr1441Ala,ENST00000560601,;ACAN,missense_variant,p.Thr1441Ala,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Thr1422Ala,ENST00000617301,;ACAN,missense_variant,p.Thr1441Ala,ENST00000559004,;ACAN,missense_variant,p.Thr1441Ala,ENST00000561243,;ACAN,missense_variant,p.Thr1441Ala,ENST00000352105,NM_001135.3;,regulatory_region_variant,,ENSR00000278890,; G ENSG00000157766 ENST00000439576 Transcript missense_variant 4695/8840 4321/7593 1441/2530 T/A Act/Gct rs200437529,COSM1129069,COSM1129068 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 tolerated(0.44) benign(0.186) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS TAC . . 4.537e-05 0.0001333 8.987e-05 6.315e-05 88856906 CACNA1H . GRCh38 chr16 1209305 1209305 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.3637A>C p.Lys1213Gln p.K1213Q ENST00000348261 17/35 54 40 13 35 35 0 CACNA1H,missense_variant,p.Lys1213Gln,ENST00000348261,NM_021098.2;CACNA1H,missense_variant,p.Lys1213Gln,ENST00000358590,NM_001005407.1;CACNA1H,missense_variant,p.Lys1200Gln,ENST00000638323,;CACNA1H,missense_variant,p.Lys1213Gln,ENST00000565831,;CACNA1H,upstream_gene_variant,,ENST00000562079,;CACNA1H,upstream_gene_variant,,ENST00000564231,;CACNA1H,upstream_gene_variant,,ENST00000569107,;AC120498.6,upstream_gene_variant,,ENST00000564700,;CACNA1H,missense_variant,p.Lys1213Gln,ENST00000639478,;CACNA1H,3_prime_UTR_variant,,ENST00000640028,;CACNA1H,upstream_gene_variant,,ENST00000569953,;CACNA1H,upstream_gene_variant,,ENST00000637236,; C ENSG00000196557 ENST00000348261 Transcript missense_variant 4005/8208 3637/7062 1213/2353 K/Q Aag/Cag 1 1 CACNA1H HGNC HGNC:1395 protein_coding YES CCDS45375.1 ENSP00000334198 O95180 UPI000012727B NM_021098.2 tolerated(0.28) possibly_damaging(0.543) 17/35 mobidb-lite,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192 MODERATE 1 SNV 1 1 PASS CAA . . 1209305 PKD1 . GRCh38 chr16 2091518 2091518 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.11617T>G p.Phe3873Val p.F3873V ENST00000262304 42/46 56 43 12 33 33 0 PKD1,missense_variant,p.Phe3873Val,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Phe3872Val,ENST00000423118,NM_000296.3;TSC2,downstream_gene_variant,,ENST00000219476,NM_000548.4;TSC2,downstream_gene_variant,,ENST00000350773,NM_001114382.2;TSC2,downstream_gene_variant,,ENST00000382538,NM_001318829.1;TSC2,downstream_gene_variant,,ENST00000401874,NM_001077183.2;TSC2,downstream_gene_variant,,ENST00000439673,NM_001318827.1;TSC2,downstream_gene_variant,,ENST00000568454,NM_001318832.1;TSC2,downstream_gene_variant,,ENST00000642365,;TSC2,downstream_gene_variant,,ENST00000642561,;TSC2,downstream_gene_variant,,ENST00000642797,;TSC2,downstream_gene_variant,,ENST00000642936,NM_001318831.1;TSC2,downstream_gene_variant,,ENST00000643088,;TSC2,downstream_gene_variant,,ENST00000643946,;TSC2,downstream_gene_variant,,ENST00000644043,;TSC2,downstream_gene_variant,,ENST00000644329,;TSC2,downstream_gene_variant,,ENST00000644335,;TSC2,downstream_gene_variant,,ENST00000644399,;TSC2,downstream_gene_variant,,ENST00000646388,;MIR1225,upstream_gene_variant,,ENST00000408729,;AC009065.2,non_coding_transcript_exon_variant,,ENST00000570072,;AC009065.2,upstream_gene_variant,,ENST00000563284,;AC009065.5,downstream_gene_variant,,ENST00000565937,;TSC2,downstream_gene_variant,,ENST00000642728,;TSC2,downstream_gene_variant,,ENST00000646634,;PKD1,3_prime_UTR_variant,,ENST00000487932,;PKD1,3_prime_UTR_variant,,ENST00000561668,;PKD1,non_coding_transcript_exon_variant,,ENST00000485120,;PKD1,intron_variant,,ENST00000564313,;TSC2,downstream_gene_variant,,ENST00000439117,;PKD1,upstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000472659,;TSC2,downstream_gene_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000562425,;PKD1,downstream_gene_variant,,ENST00000567355,;PKD1,downstream_gene_variant,,ENST00000568796,;TSC2,downstream_gene_variant,,ENST00000569110,;TSC2,downstream_gene_variant,,ENST00000569930,;TSC2,downstream_gene_variant,,ENST00000642791,;TSC2,downstream_gene_variant,,ENST00000643177,;TSC2,downstream_gene_variant,,ENST00000643426,;TSC2,downstream_gene_variant,,ENST00000644278,;TSC2,downstream_gene_variant,,ENST00000645024,;TSC2,downstream_gene_variant,,ENST00000646557,;TSC2,downstream_gene_variant,,ENST00000646674,;TSC2,downstream_gene_variant,,ENST00000647042,;TSC2,downstream_gene_variant,,ENST00000647180,;,regulatory_region_variant,,ENSR00000082436,; C ENSG00000008710 ENST00000262304 Transcript missense_variant 11826/14138 11617/12912 3873/4303 F/V Ttc/Gtc 1 -1 PKD1 HGNC HGNC:9008 protein_coding YES CCDS32369.1 ENSP00000262304 P98161 UPI00001B0454 NM_001009944.2 deleterious(0.01) probably_damaging(1) 42/46 Pfam_domain:PF08016,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF175 MODERATE 1 SNV 1 1 PASS AAC . . 2091518 ZNF319 . GRCh38 chr16 57997493 57997493 + Missense_Mutation SNP T T A rs1451383061 7316-931 BS_YKD3WYFB T T c.773A>T p.Tyr258Phe p.Y258F ENST00000299237 2/2 88 79 7 45 45 0 ZNF319,missense_variant,p.Tyr258Phe,ENST00000299237,NM_020807.2;USB1,upstream_gene_variant,,ENST00000219281,NM_024598.3,NM_001330568.1;USB1,upstream_gene_variant,,ENST00000423271,NM_001204911.1;USB1,upstream_gene_variant,,ENST00000539737,NM_001195302.1;USB1,upstream_gene_variant,,ENST00000561568,;USB1,upstream_gene_variant,,ENST00000561743,;ZNF319,downstream_gene_variant,,ENST00000562909,;USB1,upstream_gene_variant,,ENST00000563149,NM_001330569.1;USB1,upstream_gene_variant,,ENST00000562534,;USB1,upstream_gene_variant,,ENST00000563207,;USB1,upstream_gene_variant,,ENST00000565662,;USB1,upstream_gene_variant,,ENST00000568848,;USB1,upstream_gene_variant,,ENST00000569252,;USB1,upstream_gene_variant,,ENST00000564387,;USB1,upstream_gene_variant,,ENST00000566292,; A ENSG00000166188 ENST00000299237 Transcript missense_variant 1396/4221 773/1749 258/582 Y/F tAc/tTc rs1451383061 1 -1 ZNF319 HGNC HGNC:13644 protein_coding YES CCDS32462.1 ENSP00000299237 Q9P2F9 UPI000013C357 NM_020807.2 tolerated(0.75) benign(0.137) 2/2 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF95,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GTA . . 57997493 E2F4 . GRCh38 chr16 67192247 67192247 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.20A>C p.Gln7Pro p.Q7P ENST00000379378 1/10 50 28 17 41 40 0 E2F4,missense_variant,p.Gln7Pro,ENST00000379378,NM_001950.3;EXOC3L1,upstream_gene_variant,,ENST00000314586,NM_178516.3;EXOC3L1,upstream_gene_variant,,ENST00000545725,;EXOC3L1,upstream_gene_variant,,ENST00000563889,;EXOC3L1,upstream_gene_variant,,ENST00000564418,;E2F4,upstream_gene_variant,,ENST00000565226,;EXOC3L1,upstream_gene_variant,,ENST00000562887,;E2F4,upstream_gene_variant,,ENST00000564718,;E2F4,missense_variant,p.Gln7Pro,ENST00000568839,;E2F4,missense_variant,p.Gln7Pro,ENST00000569573,;E2F4,missense_variant,p.Gln7Pro,ENST00000565849,;E2F4,non_coding_transcript_exon_variant,,ENST00000567007,;E2F4,non_coding_transcript_exon_variant,,ENST00000561904,;E2F4,non_coding_transcript_exon_variant,,ENST00000563238,;E2F4,non_coding_transcript_exon_variant,,ENST00000568485,;EXOC3L1,upstream_gene_variant,,ENST00000564324,;E2F4,upstream_gene_variant,,ENST00000566368,;E2F4,upstream_gene_variant,,ENST00000567228,;E2F4,upstream_gene_variant,,ENST00000568693,;,regulatory_region_variant,,ENSR00000087081,; C ENSG00000205250 ENST00000379378 Transcript missense_variant 79/2096 20/1242 7/413 Q/P cAg/cCg 1 1 E2F4 HGNC HGNC:3118 protein_coding YES CCDS32464.1 ENSP00000368686 Q16254 UPI000002EFCB NM_001950.3 deleterious_low_confidence(0.05) possibly_damaging(0.497) 1/10 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF42 MODERATE 1 SNV 1 PASS CAG . . 67192247 DNAAF1 . GRCh38 chr16 84170266 84170266 + Nonsense_Mutation SNP A A T novel 7316-931 BS_YKD3WYFB A A c.1438A>T p.Lys480Ter p.K480* ENST00000378553 8/12 54 34 7 34 34 0 DNAAF1,stop_gained,p.Lys480Ter,ENST00000378553,NM_178452.5;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,NM_001318756.1;DNAAF1,downstream_gene_variant,,ENST00000567666,;DNAAF1,upstream_gene_variant,,ENST00000623406,;DNAAF1,missense_variant,p.Glu417Val,ENST00000563093,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,; T ENSG00000154099 ENST00000378553 Transcript stop_gained 1562/2379 1438/2178 480/725 K/* Aag/Tag 1 1 DNAAF1 HGNC HGNC:30539 protein_coding YES CCDS10943.2 ENSP00000367815 Q8NEP3 A0A140VJN4 UPI000059D3C9 NM_178452.5 8/12 mobidb-lite HIGH 1 SNV 1 1 PASS GAA . . 84170266 USP22 . GRCh38 chr17 21042834 21042834 + Translation_Start_Site SNP A A C rs1390944507 7316-931 BS_YKD3WYFB A A c.2T>G p.Met1? p.M1? ENST00000261497 1/13 35 24 8 38 36 1 USP22,start_lost,p.Met1?,ENST00000261497,NM_015276.1;USP22,intron_variant,,ENST00000537526,;USP22,intron_variant,,ENST00000584538,;USP22,upstream_gene_variant,,ENST00000476111,;USP22,intron_variant,,ENST00000455117,;USP22,intron_variant,,ENST00000579645,;,regulatory_region_variant,,ENSR00000092418,; C ENSG00000124422 ENST00000261497 Transcript start_lost 206/5220 2/1578 1/525 M/R aTg/aGg rs1390944507 1 -1 USP22 HGNC HGNC:12621 protein_coding YES CCDS42285.1 ENSP00000261497 Q9UPT9 UPI00001C1FC6 NM_015276.1 deleterious_low_confidence(0) benign(0) 1/13 hmmpanther:PTHR43961:SF1,hmmpanther:PTHR43961 HIGH 1 SNV 1 PASS CAT . . 2.217e-05 5.406e-05 21042834 ABCA6 . GRCh38 chr17 69096765 69096766 + In_Frame_Ins INS - - AGCAGAAGTGTG novel 7316-931 BS_YKD3WYFB - - c.3156_3157insCACACTTCTGCT p.Leu1052_Tyr1053insHisThrSerAla p.L1052_Y1053insHTSA ENST00000284425 24/39 62 54 5 38 38 0 ABCA6,inframe_insertion,p.Leu1052_Tyr1053insHisThrSerAla,ENST00000284425,NM_080284.2;MIR4524B,upstream_gene_variant,,ENST00000581569,;MIR4524A,downstream_gene_variant,,ENST00000637750,;ABCA6,non_coding_transcript_exon_variant,,ENST00000446604,;SEC24AP1,upstream_gene_variant,,ENST00000586611,; AGCAGAAGTGTG ENSG00000154262 ENST00000284425 Transcript inframe_insertion 3331-3332/5300 3156-3157/4854 1052-1053/1617 -/HTSA -/CACACTTCTGCT 1 -1 ABCA6 HGNC HGNC:36 protein_coding YES CCDS11683.1 ENSP00000284425 Q8N139 UPI000013DD9D NM_080284.2 24/39 Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF13 MODERATE 1 insertion 1 PASS TAG . . 69096765 FAAP100 . GRCh38 chr17 81552329 81552329 + Translation_Start_Site SNP A A C novel 7316-931 BS_YKD3WYFB A A c.2T>G p.Met1? p.M1? ENST00000327787 1/9 36 28 6 33 33 0 FAAP100,start_lost,p.Met1?,ENST00000327787,NM_025161.5;FAAP100,intron_variant,,ENST00000536161,;FAAP100,intron_variant,,ENST00000541246,;FAAP100,intron_variant,,ENST00000544302,;NPLOC4,downstream_gene_variant,,ENST00000331134,NM_017921.3;FAAP100,upstream_gene_variant,,ENST00000425898,;FAAP100,start_lost,p.Met1?,ENST00000443656,;,regulatory_region_variant,,ENSR00000099434,; C ENSG00000185504 ENST00000327787 Transcript start_lost 49/3627 2/2646 1/881 M/R aTg/aGg 1 -1 FAAP100 HGNC HGNC:26171 protein_coding YES CCDS32765.2 ENSP00000333283 Q0VG06 UPI0001C53D21 NM_025161.5 deleterious(0) probably_damaging(0.986) 1/9 hmmpanther:PTHR14890 HIGH 1 SNV 1 PASS CAT . . 81552329 GATA6 . GRCh38 chr18 22171848 22171848 + Missense_Mutation SNP A A C 7316-931 BS_YKD3WYFB A A c.704A>C p.Tyr235Ser p.Y235S ENST00000269216 2/7 35 25 8 34 32 0 GATA6,missense_variant,p.Tyr235Ser,ENST00000269216,NM_005257.5;GATA6,missense_variant,p.Tyr235Ser,ENST00000581694,;GATA6-AS1,upstream_gene_variant,,ENST00000579431,;GATA6-AS1,upstream_gene_variant,,ENST00000583490,;GATA6-AS1,upstream_gene_variant,,ENST00000584201,;GATA6-AS1,upstream_gene_variant,,ENST00000584373,;AC091588.1,downstream_gene_variant,,ENST00000578504,;,regulatory_region_variant,,ENSR00000285324,; C ENSG00000141448 ENST00000269216 Transcript missense_variant 981/3770 704/1788 235/595 Y/S tAc/tCc CM128433 1 1 GATA6 HGNC HGNC:4174 protein_coding YES CCDS11872.1 ENSP00000269216 Q92908 UPI0000201AC8 NM_005257.5 tolerated(0.1) benign(0.096) 2/7 Pfam_domain:PF05349,PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF23,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 1 PASS TAC . . 22171848 TBXA2R . GRCh38 chr19 3595011 3595011 + Missense_Mutation SNP C C T rs1439780244 7316-931 BS_YKD3WYFB C C c.1049G>A p.Arg350His p.R350H ENST00000411851 4/4 65 46 7 39 35 0 TBXA2R,missense_variant,p.Arg350His,ENST00000411851,NM_201636.2;TBXA2R,3_prime_UTR_variant,,ENST00000375190,NM_001060.5;TBXA2R,3_prime_UTR_variant,,ENST00000589966,;GIPC3,downstream_gene_variant,,ENST00000322315,;GIPC3,downstream_gene_variant,,ENST00000644452,NM_133261.2;GIPC3,downstream_gene_variant,,ENST00000644946,;TBXA2R,downstream_gene_variant,,ENST00000587717,; T ENSG00000006638 ENST00000411851 Transcript missense_variant 1263/1494 1049/1224 350/407 R/H cGc/cAc rs1439780244,COSM4131670,COSM3396338 1 -1 TBXA2R HGNC HGNC:11608 protein_coding YES CCDS54198.1 ENSP00000393333 P21731 UPI00000711C4 NM_201636.2 tolerated(0.12) benign(0) 4/4 Prints_domain:PR02045 0,1,1 MODERATE SNV 2 0,1,1 1 PASS GCG . . 7.621e-06 4.446e-05 3595011 ZNF700 . GRCh38 chr19 11949190 11949190 + Missense_Mutation SNP G G C rs139554356 7316-931 BS_YKD3WYFB G G c.1175G>C p.Arg392Pro p.R392P ENST00000622593 4/4 61 55 6 53 52 0 ZNF700,missense_variant,p.Arg371Pro,ENST00000482090,;ZNF700,missense_variant,p.Arg392Pro,ENST00000622593,NM_001271848.1;ZNF700,missense_variant,p.Arg389Pro,ENST00000254321,NM_144566.2;AC008770.2,intron_variant,,ENST00000590798,;AC008770.2,intron_variant,,ENST00000591944,;AC008770.3,intron_variant,,ENST00000586394,;AC008770.2,intron_variant,,ENST00000591441,;AC008770.2,upstream_gene_variant,,ENST00000586354,; C ENSG00000196757 ENST00000622593 Transcript missense_variant 1318/2901 1175/2238 392/745 R/P cGc/cCc rs139554356,COSM1581976 1 1 ZNF700 HGNC HGNC:25292 protein_coding YES CCDS74289.1 ENSP00000479449 A0A087WVH9 UPI0002A097BD NM_001271848.1 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379,Gene3D:3.30.160.60,Superfamily_domains:SSF57667 0.0036 0.0136 0.01089 0,1 MODERATE SNV 4 0,1 PASS CGC . . 0.0006351 0.009585 0.0001822 1.801e-05 0.0001842 11949190 ZNF433 . GRCh38 chr19 12015259 12015259 + Nonsense_Mutation SNP G G T 7316-931 BS_YKD3WYFB G G c.1608C>A p.Cys536Ter p.C536* ENST00000344980 4/4 59 38 13 38 38 0 ZNF433,stop_gained,p.Cys501Ter,ENST00000419886,NM_001308346.1,NM_001308357.1,NM_001308351.1,NM_001308355.1;ZNF433,stop_gained,p.Cys536Ter,ENST00000344980,NM_001308348.1,NM_001080411.2;ZNF433,downstream_gene_variant,,ENST00000411841,;ZNF433,downstream_gene_variant,,ENST00000455504,;ZNF433,downstream_gene_variant,,ENST00000478765,;ZNF433,downstream_gene_variant,,ENST00000547560,;ZNF433,downstream_gene_variant,,ENST00000550507,;ZNF433,downstream_gene_variant,,ENST00000550745,;ZNF433,downstream_gene_variant,,ENST00000552904,;ZNF433-AS1,intron_variant,,ENST00000406892,;ZNF433-AS1,intron_variant,,ENST00000476474,;ZNF433-AS1,intron_variant,,ENST00000495324,;ZNF433-AS1,intron_variant,,ENST00000588047,;AC008770.1,downstream_gene_variant,,ENST00000547473,;ZNF433,downstream_gene_variant,,ENST00000548669,; T ENSG00000197647 ENST00000344980 Transcript stop_gained 1779/2280 1608/2022 536/673 C/* tgC/tgA COSM6285931 1 -1 ZNF433 HGNC HGNC:20811 protein_coding YES CCDS45983.1 ENSP00000339767 Q8N7K0 UPI0000071556 NM_001308348.1,NM_001080411.2 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF47,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 HIGH 1 SNV 2 1 PASS TGC . . 12015259 ZNF791 . GRCh38 chr19 12628657 12628657 + Missense_Mutation SNP G G T novel 7316-931 BS_YKD3WYFB G G c.1128G>T p.Arg376Ser p.R376S ENST00000343325 4/4 81 62 8 39 39 0 ZNF791,missense_variant,p.Arg376Ser,ENST00000343325,NM_153358.2;ZNF791,3_prime_UTR_variant,,ENST00000446165,;ZNF791,downstream_gene_variant,,ENST00000600752,;ZNF490,intron_variant,,ENST00000465656,;ZNF791,downstream_gene_variant,,ENST00000597691,;ZNF791,downstream_gene_variant,,ENST00000598225,; T ENSG00000173875 ENST00000343325 Transcript missense_variant 1290/4554 1128/1731 376/576 R/S agG/agT 1 1 ZNF791 HGNC HGNC:26895 protein_coding YES CCDS12273.1 ENSP00000342974 Q3KP31 UPI0000203455 NM_153358.2 deleterious(0.03) probably_damaging(0.995) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF26,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GGA . . 12628657 CHERP . GRCh38 chr19 16519660 16519660 + Missense_Mutation SNP C C T rs1395904671 7316-931 BS_YKD3WYFB C C c.2518G>A p.Gly840Arg p.G840R ENST00000546361 16/17 54 45 6 31 31 0 CHERP,missense_variant,p.Gly840Arg,ENST00000546361,NM_006387.5;CHERP,missense_variant,p.Gly851Arg,ENST00000198939,;C19orf44,intron_variant,,ENST00000221671,NM_032207.3;C19orf44,downstream_gene_variant,,ENST00000594035,NM_001288834.1;C19orf44,downstream_gene_variant,,ENST00000601288,;CHERP,non_coding_transcript_exon_variant,,ENST00000544299,;CHERP,non_coding_transcript_exon_variant,,ENST00000597261,;AC008764.1,intron_variant,,ENST00000409035,;C19orf44,intron_variant,,ENST00000593380,;C19orf44,intron_variant,,ENST00000601109,;CHERP,downstream_gene_variant,,ENST00000600432,; T ENSG00000085872 ENST00000546361 Transcript missense_variant 2670/4173 2518/2751 840/916 G/R Gga/Aga rs1395904671,COSM4672130 1 -1 CHERP HGNC HGNC:16930 protein_coding YES CCDS42518.1 ENSP00000439856 Q8IWX8 UPI00001AE5BE NM_006387.5 deleterious(0.04) probably_damaging(0.998) 16/17 hmmpanther:PTHR12323,SMART_domains:SM00443,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 4.061e-06 3.249e-05 16519660 ZNF253 . GRCh38 chr19 19892233 19892233 + Missense_Mutation SNP T T C rs1278358622 7316-931 BS_YKD3WYFB T T c.986T>C p.Ile329Thr p.I329T ENST00000589717 4/4 55 38 9 47 45 1 ZNF253,missense_variant,p.Ile329Thr,ENST00000589717,NM_021047.2;ZNF253,missense_variant,p.Ile253Thr,ENST00000355650,NM_001331134.1;ZNF253,intron_variant,,ENST00000640599,;ZNF253,downstream_gene_variant,,ENST00000592725,;AC011477.3,downstream_gene_variant,,ENST00000585571,; C ENSG00000256771 ENST00000589717 Transcript missense_variant 1078/3519 986/1500 329/499 I/T aTa/aCa rs1278358622 1 1 ZNF253 HGNC HGNC:13497 protein_coding YES CCDS42532.1 ENSP00000468720 O75346 UPI0000070CE8 NM_021047.2 tolerated(0.76) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF181,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATA . . 19892233 ZNF253 . GRCh38 chr19 19892242 19892242 + Missense_Mutation SNP G G T rs775709174 7316-931 BS_YKD3WYFB G G c.995G>T p.Arg332Ile p.R332I ENST00000589717 4/4 58 45 7 48 48 0 ZNF253,missense_variant,p.Arg332Ile,ENST00000589717,NM_021047.2;ZNF253,missense_variant,p.Arg256Ile,ENST00000355650,NM_001331134.1;ZNF253,intron_variant,,ENST00000640599,;ZNF253,downstream_gene_variant,,ENST00000592725,;AC011477.3,downstream_gene_variant,,ENST00000585571,; T ENSG00000256771 ENST00000589717 Transcript missense_variant 1087/3519 995/1500 332/499 R/I aGa/aTa rs775709174,COSM993444,COSM993443 1 1 ZNF253 HGNC HGNC:13497 protein_coding YES CCDS42532.1 ENSP00000468720 O75346 UPI0000070CE8 NM_021047.2 tolerated(0.38) benign(0.014) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF181,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGA . . 8.161e-05 0.0006505 19892242 ZNF93 . GRCh38 chr19 19933985 19933985 + Missense_Mutation SNP A A T 7316-931 BS_YKD3WYFB A A c.1030A>T p.Asn344Tyr p.N344Y ENST00000343769 4/4 46 31 7 47 46 0 ZNF93,missense_variant,p.Asn344Tyr,ENST00000343769,NM_031218.3;ZNF93,missense_variant,p.Asn153Tyr,ENST00000638737,;ZNF93,downstream_gene_variant,,ENST00000588146,;ZNF93,downstream_gene_variant,,ENST00000592160,;ZNF93,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,; T ENSG00000184635 ENST00000343769 Transcript missense_variant 1058/2648 1030/1863 344/620 N/Y Aat/Tat COSM5956480 1 1 ZNF93 HGNC HGNC:13169 protein_coding YES CCDS32973.1 ENSP00000342002 P35789 UPI00002263B9 NM_031218.3 deleterious(0) possibly_damaging(0.768) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF037162,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS TAA . . 19933985 ZNF93 . GRCh38 chr19 19933995 19933995 + Missense_Mutation SNP G G A rs751779830 7316-931 BS_YKD3WYFB G G c.1040G>A p.Gly347Asp p.G347D ENST00000343769 4/4 45 34 5 45 44 0 ZNF93,missense_variant,p.Gly347Asp,ENST00000343769,NM_031218.3;ZNF93,missense_variant,p.Gly156Asp,ENST00000638737,;ZNF93,downstream_gene_variant,,ENST00000588146,;ZNF93,downstream_gene_variant,,ENST00000592160,;ZNF93,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,; A ENSG00000184635 ENST00000343769 Transcript missense_variant 1068/2648 1040/1863 347/620 G/D gGc/gAc rs751779830,COSM5956481 1 1 ZNF93 HGNC HGNC:13169 protein_coding YES CCDS32973.1 ENSP00000342002 P35789 UPI00002263B9 NM_031218.3 deleterious(0.03) probably_damaging(0.937) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF037162,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GGC . . 1.227e-05 1.805e-05 3.271e-05 19933995 ZNF90 . GRCh38 chr19 20118429 20118429 + Missense_Mutation SNP G G A rs1374321279 7316-931 BS_YKD3WYFB G G c.875G>A p.Arg292Lys p.R292K ENST00000418063 4/4 70 58 7 32 31 0 ZNF90,missense_variant,p.Arg292Lys,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; A ENSG00000213988 ENST00000418063 Transcript missense_variant 987/2310 875/1806 292/601 R/K aGa/aAa rs1374321279,COSM5855190 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS AGA . . 4.149e-06 5.897e-05 20118429 ZNF708 . GRCh38 chr19 21293887 21293887 + Missense_Mutation SNP T T A 7316-931 BS_YKD3WYFB T T c.1079A>T p.Glu360Val p.E360V ENST00000356929 4/4 44 29 6 51 50 0 ZNF708,missense_variant,p.Glu360Val,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; A ENSG00000182141 ENST00000356929 Transcript missense_variant 1277/4004 1079/1692 360/563 E/V gAa/gTa COSM3892081 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 deleterious(0.01) possibly_damaging(0.456) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS TTC . . 21293887 ZNF429 . GRCh38 chr19 21537134 21537134 + Missense_Mutation SNP G G T novel 7316-931 BS_YKD3WYFB G G c.1081G>T p.Val361Leu p.V361L ENST00000358491 4/4 60 45 9 37 36 0 ZNF429,missense_variant,p.Val361Leu,ENST00000358491,NM_001001415.2;ZNF429,missense_variant,p.Val330Leu,ENST00000618549,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,; T ENSG00000197013 ENST00000358491 Transcript missense_variant 1289/2233 1081/2025 361/674 V/L Gta/Tta 1 1 ZNF429 HGNC HGNC:20817 protein_coding YES CCDS42537.1 ENSP00000351280 Q86V71 UPI000022ABC2 NM_001001415.2 tolerated(0.48) benign(0.015) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 1 PASS GGT . . 21537134 ZNF257 . GRCh38 chr19 22088495 22088495 + Missense_Mutation SNP G G A rs551638906 7316-931 BS_YKD3WYFB G G c.745G>A p.Val249Ile p.V249I ENST00000594947 4/4 80 66 6 39 38 0 ZNF257,missense_variant,p.Val249Ile,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; A ENSG00000197134 ENST00000594947 Transcript missense_variant 889/3874 745/1692 249/563 V/I Gta/Ata rs551638906,COSM4843099 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 tolerated(0.16) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0004 0.0015 0,1 MODERATE 1 SNV 4 0,1 PASS GGT . . 0.0002703 0.0002364 0.0008848 7.762e-05 0.000128 0.0004272 0.0005514 22088495 ZNF730 . GRCh38 chr19 23146401 23146401 + Missense_Mutation SNP G G A rs879228899 7316-931 BS_YKD3WYFB G G c.1357G>A p.Glu453Lys p.E453K ENST00000597761 4/4 62 49 7 42 41 0 ZNF730,missense_variant,p.Glu453Lys,ENST00000597761,NM_001277403.1;ZNF730,downstream_gene_variant,,ENST00000599195,; A ENSG00000183850 ENST00000597761 Transcript missense_variant 1556/2374 1357/1512 453/503 E/K Gaa/Aaa rs879228899 1 1 ZNF730 HGNC HGNC:32470 protein_coding YES CCDS59371.1 ENSP00000472959 Q6ZMV8 UPI000035E7F4 NM_001277403.1 tolerated(1) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF110,hmmpanther:PTHR24384,Pfam_domain:PF00096,Gene3D:2.20.28.30,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS TGA . . 4.17e-06 3.348e-05 23146401 ZNF681 . GRCh38 chr19 23743779 23743779 + Missense_Mutation SNP G G T rs1277093508 7316-931 BS_YKD3WYFB G G c.1771C>A p.Gln591Lys p.Q591K ENST00000402377 4/4 67 57 9 40 40 0 ZNF681,missense_variant,p.Gln591Lys,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; T ENSG00000196172 ENST00000402377 Transcript missense_variant 1913/6497 1771/1938 591/645 Q/K Caa/Aaa rs1277093508,COSM5018580,COSM5018579 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TGG . . 23743779 SBSN . GRCh38 chr19 35527136 35527136 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.1146A>C p.Glu382Asp p.E382D ENST00000452271 1/4 42 26 7 37 36 0 SBSN,missense_variant,p.Glu382Asp,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; G ENSG00000189001 ENST00000452271 Transcript missense_variant 1175/1945 1146/1773 382/590 E/D gaA/gaC 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 deleterious(0.03) benign(0.053) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3 MODERATE 1 SNV 1 PASS CTT . . 35527136 ZNF461 . GRCh38 chr19 36639154 36639154 + Missense_Mutation SNP G G T novel 7316-931 BS_YKD3WYFB G G c.1191C>A p.His397Gln p.H397Q ENST00000588268 6/6 48 36 5 57 57 0 ZNF461,missense_variant,p.His397Gln,ENST00000588268,NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1;ZNF461,missense_variant,p.His374Gln,ENST00000360357,NM_001322827.1,NM_001322826.1,NM_001297623.2;ZNF461,missense_variant,p.His397Gln,ENST00000614133,;ZNF461,missense_variant,p.His128Gln,ENST00000618437,;ZNF461,downstream_gene_variant,,ENST00000591370,NM_001322828.1;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000588844,;ZNF461,downstream_gene_variant,,ENST00000590361,; T ENSG00000197808 ENST00000588268 Transcript missense_variant 1419/2584 1191/1692 397/563 H/Q caC/caA 1 -1 ZNF461 HGNC HGNC:21629 protein_coding YES CCDS54257.1 ENSP00000467931 Q8TAF7 UPI00002021CA NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1 tolerated(0.21) benign(0.003) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF277,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGT . . 36639154 RASGRP4 . GRCh38 chr19 38412773 38412773 + Missense_Mutation SNP G G A rs375300341 7316-931 BS_YKD3WYFB G G c.1579C>T p.Arg527Trp p.R527W ENST00000615439 13/17 32 16 14 33 33 0 RASGRP4,missense_variant,p.Arg527Trp,ENST00000618320,;RASGRP4,missense_variant,p.Arg527Trp,ENST00000615439,NM_170604.2;RASGRP4,missense_variant,p.Arg493Trp,ENST00000454404,NM_001146205.1;RASGRP4,missense_variant,p.Arg513Trp,ENST00000586305,NM_001146202.1;RASGRP4,missense_variant,p.Arg458Trp,ENST00000587753,NM_001146204.1;RASGRP4,missense_variant,p.Arg435Trp,ENST00000614135,;RASGRP4,missense_variant,p.Arg435Trp,ENST00000433821,NM_001146203.1;RASGRP4,missense_variant,p.Arg430Trp,ENST00000617966,;RASGRP4,missense_variant,p.Arg430Trp,ENST00000293062,NM_001146207.1;RASGRP4,missense_variant,p.Arg338Trp,ENST00000622174,;RASGRP4,missense_variant,p.Arg338Trp,ENST00000426920,NM_001146206.1;RASGRP4,missense_variant,p.Arg527Trp,ENST00000587738,;FAM98C,downstream_gene_variant,,ENST00000252530,NM_174905.3;FAM98C,downstream_gene_variant,,ENST00000343358,NM_001351675.1;FAM98C,downstream_gene_variant,,ENST00000588262,;RASGRP4,missense_variant,p.Arg527Trp,ENST00000589358,;RASGRP4,missense_variant,p.Arg513Trp,ENST00000589474,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000615340,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588708,;FAM98C,downstream_gene_variant,,ENST00000586372,;RASGRP4,upstream_gene_variant,,ENST00000587287,;FAM98C,downstream_gene_variant,,ENST00000588348,;FAM98C,downstream_gene_variant,,ENST00000589027,; A ENSG00000171777 ENST00000615439 Transcript missense_variant 1793/3217 1579/2022 527/673 R/W Cgg/Tgg rs375300341 1 -1 RASGRP4 HGNC HGNC:18958 protein_coding YES CCDS46068.1 ENSP00000479844 Q8TDF6 UPI0000050F40 NM_170604.2 deleterious(0) possibly_damaging(0.72) 13/17 Gene3D:1.10.238.10,Superfamily_domains:SSF57889,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF157 0.0006 0.0015 0.001 0.0002421 MODERATE 1 SNV 1 PASS CGG . . 9.495e-05 0.0004981 9.508e-05 0.000432 3.844e-05 3.381e-05 38412773 EID2 . GRCh38 chr19 39539801 39539801 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.279A>C p.Glu93Asp p.E93D ENST00000390658 1/1 76 62 12 39 39 0 EID2,missense_variant,p.Glu93Asp,ENST00000390658,NM_153232.3;,regulatory_region_variant,,ENSR00000109440,;TDGF1P7,downstream_gene_variant,,ENST00000593394,; G ENSG00000176396 ENST00000390658 Transcript missense_variant 533/1629 279/711 93/236 E/D gaA/gaC 1 -1 EID2 HGNC HGNC:28292 protein_coding YES CCDS12540.2 ENSP00000375073 Q8N6I1 UPI00001E052F NM_153232.3 tolerated(0.19) benign(0.242) 1/1 hmmpanther:PTHR15556,hmmpanther:PTHR15556:SF3,Low_complexity_(Seg):seg MODERATE 1 SNV PASS TTT . . 39539801 MEGF8 . GRCh38 chr19 42375857 42375857 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.7620T>G p.Asp2540Glu p.D2540E ENST00000251268 42/42 73 55 13 34 33 0 MEGF8,missense_variant,p.Asp134Glu,ENST00000378073,;MEGF8,missense_variant,p.Asp2473Glu,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Asp2540Glu,ENST00000251268,NM_001271938.1;MEGF8,3_prime_UTR_variant,,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,non_coding_transcript_exon_variant,,ENST00000599787,; G ENSG00000105429 ENST00000251268 Transcript missense_variant 7620/9549 7620/8538 2540/2845 D/E gaT/gaG 1 1 MEGF8 HGNC HGNC:3233 protein_coding YES CCDS62693.1 ENSP00000251268 Q7Z7M0 UPI00005788D1 NM_001271938.1 tolerated(0.75) benign(0.281) 42/42 hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ATG . . 42375857 ZNF283 . GRCh38 chr19 43848315 43848315 + Missense_Mutation SNP A A G 7316-931 BS_YKD3WYFB A A c.1714A>G p.Lys572Glu p.K572E ENST00000618787 7/7 70 53 6 41 39 1 ZNF283,missense_variant,p.Lys572Glu,ENST00000618787,NM_181845.1;ZNF283,missense_variant,p.Lys433Glu,ENST00000588797,NM_001297752.1;ZNF283,missense_variant,p.Lys572Glu,ENST00000324461,; G ENSG00000167637 ENST00000618787 Transcript missense_variant 2011/5713 1714/2040 572/679 K/E Aaa/Gaa COSM6211997 1 1 ZNF283 HGNC HGNC:13077 protein_coding YES CCDS46097.1 ENSP00000484852 Q8N7M2 UPI000155B91C NM_181845.1 tolerated(1) benign(0.014) 7/7 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377:SF142,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS CAA . . 43848315 PPP1R13L . GRCh38 chr19 45395783 45395783 + Missense_Mutation SNP G G A novel 7316-931 BS_YKD3WYFB G G c.1007C>T p.Ala336Val p.A336V ENST00000418234 7/13 37 24 11 39 37 1 PPP1R13L,missense_variant,p.Ala336Val,ENST00000418234,NM_001142502.1;PPP1R13L,missense_variant,p.Ala336Val,ENST00000360957,NM_006663.3;PPP1R13L,downstream_gene_variant,,ENST00000592134,;PPP1R13L,downstream_gene_variant,,ENST00000593226,;PPP1R13L,non_coding_transcript_exon_variant,,ENST00000585905,;PPP1R13L,upstream_gene_variant,,ENST00000587270,;,regulatory_region_variant,,ENSR00000110200,; A ENSG00000104881 ENST00000418234 Transcript missense_variant 1086/3118 1007/2487 336/828 A/V gCg/gTg 1 -1 PPP1R13L HGNC HGNC:18838 protein_coding YES CCDS33050.1 ENSP00000403902 Q8WUF5 A0A024R0Q5 UPI00001400F1 NM_001142502.1 tolerated(0.05) benign(0) 7/13 hmmpanther:PTHR24164,mobidb-lite MODERATE 1 SNV 1 PASS CGC . . 45395783 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 46 32 11 43 40 2 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 LMTK3 . GRCh38 chr19 48494059 48494059 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.3814T>G p.Phe1272Val p.F1272V ENST00000270238 13/16 48 35 11 40 38 0 LMTK3,missense_variant,p.Phe1243Val,ENST00000600059,;LMTK3,missense_variant,p.Phe1272Val,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3814/4972 3814/4470 1272/1489 F/V Ttc/Gtc 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0.01) benign(0.367) 13/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS AAT . . 48494059 ZNF845 . GRCh38 chr19 53352240 53352240 + Missense_Mutation SNP T T C rs1413242900 7316-931 BS_YKD3WYFB T T c.1565T>C p.Leu522Pro p.L522P ENST00000458035 4/4 71 56 7 42 42 0 ZNF845,missense_variant,p.Leu522Pro,ENST00000458035,NM_138374.2;ZNF845,missense_variant,p.Leu522Pro,ENST00000595091,NM_001321524.1,NM_001321523.1,NM_001321522.1; C ENSG00000213799 ENST00000458035 Transcript missense_variant 1685/6351 1565/2913 522/970 L/P cTt/cCt rs1413242900,COSM1190149 1 1 ZNF845 HGNC HGNC:25112 protein_coding YES CCDS46170.1 ENSP00000388311 Q96IR2 UPI0001662BAC NM_138374.2 tolerated(1) benign(0.001) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,hmmpanther:PTHR24376:SF74,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 4 0,1 PASS CTT . . 53352240 ZNF845 . GRCh38 chr19 53353152 53353152 + Missense_Mutation SNP G G C rs878927140 7316-931 BS_YKD3WYFB G G c.2477G>C p.Ser826Thr p.S826T ENST00000458035 4/4 67 56 11 40 37 1 ZNF845,missense_variant,p.Ser826Thr,ENST00000458035,NM_138374.2;ZNF845,missense_variant,p.Ser826Thr,ENST00000595091,NM_001321524.1,NM_001321523.1,NM_001321522.1; C ENSG00000213799 ENST00000458035 Transcript missense_variant 2597/6351 2477/2913 826/970 S/T aGt/aCt rs878927140,COSM6243604 1 1 ZNF845 HGNC HGNC:25112 protein_coding YES CCDS46170.1 ENSP00000388311 Q96IR2 UPI0001662BAC NM_138374.2 tolerated(1) benign(0) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 4 0,1 PASS AGT . . 4.114e-06 3.32e-05 53353152 SSC5D . GRCh38 chr19 55489381 55489381 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.80A>C p.His27Pro p.H27P ENST00000389623 3/14 57 41 11 38 36 0 SSC5D,missense_variant,p.His27Pro,ENST00000389623,NM_001144950.1;SSC5D,missense_variant,p.His27Pro,ENST00000587166,NM_001195267.1;SSC5D,missense_variant,p.His27Pro,ENST00000594321,;NAT14,downstream_gene_variant,,ENST00000205194,NM_020378.3;NAT14,downstream_gene_variant,,ENST00000587400,;NAT14,downstream_gene_variant,,ENST00000588985,;SSC5D,upstream_gene_variant,,ENST00000589020,;NAT14,downstream_gene_variant,,ENST00000591590,;ZNF628,downstream_gene_variant,,ENST00000598519,NM_033113.2;NAT14,downstream_gene_variant,,ENST00000592719,;SSC5D,non_coding_transcript_exon_variant,,ENST00000588254,; C ENSG00000179954 ENST00000389623 Transcript missense_variant 103/4845 80/4722 27/1573 H/P cAt/cCt 1 1 SSC5D HGNC HGNC:26641 protein_coding YES CCDS46196.1 ENSP00000374274 A1L4H1 UPI000192952A NM_001144950.1 deleterious(0.01) probably_damaging(0.96) 3/14 PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF329,PROSITE_patterns:PS00420,Gene3D:1.20.5.950,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487 MODERATE 1 SNV 1 PASS CAT . . 55489381 UMODL1 . GRCh38 chr21 42111354 42111354 + Missense_Mutation SNP A A C novel 7316-931 BS_YKD3WYFB A A c.2132A>C p.Glu711Ala p.E711A ENST00000408989 11/22 54 33 6 38 36 2 UMODL1,missense_variant,p.Glu639Ala,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Glu711Ala,ENST00000408989,NM_173568.3;UMODL1,intron_variant,,ENST00000400424,NM_001199528.2;UMODL1,intron_variant,,ENST00000408910,NM_001004416.2;UMODL1-AS1,upstream_gene_variant,,ENST00000329015,;UMODL1,upstream_gene_variant,,ENST00000475047,; C ENSG00000177398 ENST00000408989 Transcript missense_variant 2132/5262 2132/4341 711/1446 E/A gAg/gCg 1 1 UMODL1 HGNC HGNC:12560 protein_coding YES CCDS42935.1 ENSP00000386126 Q5DID0 UPI0000D6254B NM_173568.3 tolerated(0.98) benign(0) 11/22 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:2.40.155.10,hmmpanther:PTHR45146 MODERATE 1 SNV 1 PASS GAG . . 42111354 SLC25A1 . GRCh38 chr22 19176435 19176437 + In_Frame_Del DEL CTT CTT - 7316-931 BS_YKD3WYFB CTT CTT c.805_807del p.Lys269del p.K269del ENST00000215882 8/9 57 25 22 37 35 0 SLC25A1,inframe_deletion,p.Lys269del,ENST00000215882,NM_001256534.1,NM_005984.4;SLC25A1,inframe_deletion,p.Lys166del,ENST00000451283,NM_001287387.1;CLTCL1,downstream_gene_variant,,ENST00000427926,NM_007098.3;CLTCL1,downstream_gene_variant,,ENST00000617926,;CLTCL1,downstream_gene_variant,,ENST00000621271,NM_001835.3;CLTCL1,downstream_gene_variant,,ENST00000622493,;LINC01311,downstream_gene_variant,,ENST00000565162,;SLC25A1,downstream_gene_variant,,ENST00000461267,;SLC25A1,downstream_gene_variant,,ENST00000468824,;SLC25A1,non_coding_transcript_exon_variant,,ENST00000470922,;CLTCL1,downstream_gene_variant,,ENST00000412649,;CLTCL1,downstream_gene_variant,,ENST00000615606,;CLTCL1,downstream_gene_variant,,ENST00000617103,; - ENSG00000100075 ENST00000215882 Transcript inframe_deletion 962-964/1648 805-807/936 269/311 K/- AAG/- TMP_ESP_22_19163948_19163950,COSM1414861 1 -1 SLC25A1 HGNC HGNC:10979 protein_coding YES CCDS13758.1 ENSP00000215882 P53007 UPI0000137851 NM_001256534.1,NM_005984.4 8/9 PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF423,hmmpanther:PTHR24089,Gene3D:1.50.40.10,Pfam_domain:PF00153,Superfamily_domains:SSF103506 0.0002345 0.0002423 0,1 MODERATE 1 deletion 1 0,1 1 PASS TCCTTC . . 3.249e-05 6.538e-05 3.582e-05 9.746e-05 19176434 CCDC188 . GRCh38 chr22 20150946 20150946 + Missense_Mutation SNP T T G novel 7316-931 BS_YKD3WYFB T T c.41A>C p.His14Pro p.H14P ENST00000439765 1/9 44 34 8 34 33 1 CCDC188,missense_variant,p.His14Pro,ENST00000439765,NM_001243537.1;ZDHHC8,downstream_gene_variant,,ENST00000320602,;ZDHHC8,downstream_gene_variant,,ENST00000334554,NM_013373.3;ZDHHC8,downstream_gene_variant,,ENST00000405930,NM_001185024.1;CCDC188,upstream_gene_variant,,ENST00000444532,; G ENSG00000234409 ENST00000439765 Transcript missense_variant 120/1475 41/1209 14/402 H/P cAc/cCc 1 -1 CCDC188 HGNC HGNC:51899 protein_coding YES ENSP00000409542 H7C350 UPI000387C900 NM_001243537.1 deleterious_low_confidence(0) possibly_damaging(0.781) 1/9 mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS GTG . . 20150946 CSF2RA . GRCh38 chrX 1303299 1303299 + Missense_Mutation SNP A A T 7316-931 BS_YKD3WYFB A A c.985A>T p.Asn329Tyr p.N329Y ENST00000417535 11/14 47 28 10 41 37 0 CSF2RA,missense_variant,p.Asn329Tyr,ENST00000417535,NM_001161530.1;CSF2RA,intron_variant,,ENST00000355432,NM_172246.2;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2;CSF2RA,intron_variant,,ENST00000381500,NM_172247.2;CSF2RA,intron_variant,,ENST00000381509,NM_001161531.1;CSF2RA,intron_variant,,ENST00000381524,;CSF2RA,intron_variant,,ENST00000381529,NM_172245.2,NM_006140.4;CSF2RA,intron_variant,,ENST00000432318,NM_001161529.1;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;RNA5SP498,upstream_gene_variant,,ENST00000411342,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000498153,;CSF2RA,intron_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000493312,;CSF2RA,intron_variant,,ENST00000486791,; T ENSG00000198223 ENST00000417535 Transcript missense_variant 1179/1955 985/1305 329/434 N/Y Aat/Tat COSM5956821 1 1 CSF2RA HGNC HGNC:2435 protein_coding YES CCDS55359.1 ENSP00000394227 P15509 UPI000159C3E4 NM_001161530.1 tolerated(0.15) benign(0.007) 11/14 hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF94 1 MODERATE 1 SNV 5 1 1 PASS CAA . . 1303299 MAGEE1 . GRCh38 chrX 76428370 76428370 + Missense_Mutation SNP A A T novel 7316-931 BS_YKD3WYFB A A c.440A>T p.Glu147Val p.E147V ENST00000361470 1/1 36 25 5 27 27 0 MAGEE1,missense_variant,p.Glu147Val,ENST00000361470,NM_020932.2;,regulatory_region_variant,,ENSR00000247301,; T ENSG00000198934 ENST00000361470 Transcript missense_variant 647/3630 440/2874 147/957 E/V gAa/gTa 1 1 MAGEE1 HGNC HGNC:24934 protein_coding YES CCDS14433.1 ENSP00000354912 Q9HCI5 UPI000006F138 NM_020932.2 deleterious_low_confidence(0) benign(0.003) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF9,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV PASS GAA . . 76428370 TEX13D . GRCh38 chrX 124334806 124334806 + Missense_Mutation SNP G G A rs1023730611 7316-931 BS_YKD3WYFB G G c.1889G>A p.Gly630Asp p.G630D ENST00000632372 1/1 38 30 5 23 23 0 TEX13D,missense_variant,p.Gly630Asp,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; A ENSG00000282419 ENST00000632372 Transcript missense_variant 2147/4203 1889/2145 630/714 G/D gGc/gAc rs1023730611,COSM5956512 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.52) benign(0.035) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite 0,1 MODERATE 1 SNV 0,1 PASS GGC . . 124334806 MAGEC1 . GRCh38 chrX 141907796 141907796 + Missense_Mutation SNP C C T 7316-931 BS_YKD3WYFB C C c.2392C>T p.Pro798Ser p.P798S ENST00000285879 4/4 33 25 5 17 16 0 MAGEC1,missense_variant,p.Pro798Ser,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; T ENSG00000155495 ENST00000285879 Transcript missense_variant 2678/4270 2392/3429 798/1142 P/S Cct/Tct COSM365467 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 deleterious_low_confidence(0.04) benign(0.235) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS TCC . . 141907796 CLIC2 . GRCh38 chrX 155298885 155298885 + Missense_Mutation SNP C C A rs782684604 7316-931 BS_YKD3WYFB C C c.193G>T p.Ala65Ser p.A65S ENST00000369449 3/6 63 50 13 23 23 0 CLIC2,missense_variant,p.Ala65Ser,ENST00000369449,NM_001289.5;CLIC2,intron_variant,,ENST00000321926,;CLIC2,non_coding_transcript_exon_variant,,ENST00000465553,;CLIC2,non_coding_transcript_exon_variant,,ENST00000491205,; A ENSG00000155962 ENST00000369449 Transcript missense_variant 412/2655 193/744 65/247 A/S Gcc/Tcc rs782684604 1 -1 CLIC2 HGNC HGNC:2063 protein_coding YES CCDS14767.1 ENSP00000358460 O15247 UPI0000169FC8 NM_001289.5 tolerated(0.07) benign(0.134) 3/6 PDB-ENSP_mappings:2per.A,PDB-ENSP_mappings:2r4v.A,PDB-ENSP_mappings:2r5g.A,Gene3D:3.40.30.10,Pfam_domain:PF13409,hmmpanther:PTHR43920,hmmpanther:PTHR43920:SF4,SFLDS00019,Superfamily_domains:SSF52833,TIGRFAM_domain:TIGR00862,cd03061 MODERATE 1 SNV 1 1 PASS GCT . . 5.597e-06 1.249e-05 155298885 SLC35E2A . GRCh38 chr1 1734736 1734736 + Missense_Mutation SNP C C T rs61777509 7316-3025 BS_4HD33MVB C C c.686G>A p.Arg229His p.R229H ENST00000643905 5/6 60 50 10 22 22 0 SLC35E2A,missense_variant,p.Arg229His,ENST00000643905,NM_182838.2;SLC35E2A,missense_variant,p.Arg229His,ENST00000355439,NM_001199787.1;AL031282.2,non_coding_transcript_exon_variant,,ENST00000598846,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000647043,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000246421,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000475229,;AL031282.1,intron_variant,,ENST00000424604,;AL031282.1,intron_variant,,ENST00000577672,;AL031282.1,downstream_gene_variant,,ENST00000417099,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000643943,;AL031282.1,upstream_gene_variant,,ENST00000418950,; T ENSG00000215790 ENST00000643905 Transcript missense_variant 1109/6293 686/801 229/266 R/H cGt/cAt rs61777509,COSM4142977 1 -1 SLC35E2A HGNC HGNC:20863 protein_coding YES CCDS33.1 ENSP00000495949 UPI000006FA83 NM_182838.2 tolerated_low_confidence(0.23) possibly_damaging(0.477) 5/6 mobidb-lite,hmmpanther:PTHR44413,hmmpanther:PTHR44413:SF1 0,1 MODERATE SNV 0,1 PASS ACG . . 0.3075 0.08801 0.2931 0.3425 0.1221 0.4248 0.3581 0.3075 0.2544 1734736 RPL22 . GRCh38 chr1 6197733 6197734 + Frame_Shift_Ins INS - - C rs752855455 7316-3025 BS_4HD33MVB - - c.35dup p.Lys13GlnfsTer12 p.K13Qfs*12 ENST00000234875 2/4 84 42 35 21 19 0 RPL22,frameshift_variant,p.Lys13GlnfsTer12,ENST00000234875,NM_000983.3;RPL22,5_prime_UTR_variant,,ENST00000465335,;RPL22,5_prime_UTR_variant,,ENST00000497965,;RPL22,5_prime_UTR_variant,,ENST00000462296,;RPL22,5_prime_UTR_variant,,ENST00000471204,;RPL22,5_prime_UTR_variant,,ENST00000465387,;RPL22,5_prime_UTR_variant,,ENST00000484532,;RPL22,non_coding_transcript_exon_variant,,ENST00000480661,; C ENSG00000116251 ENST00000234875 Transcript frameshift_variant 74-75/2078 35-36/387 12/128 G/GX ggc/ggGc rs752855455 1 -1 RPL22 HGNC HGNC:10315 protein_coding YES CCDS58.1 ENSP00000346088 P35268 UPI000015A487 NM_000983.3 2/4 PDB-ENSP_mappings:4ug0.LU,PDB-ENSP_mappings:4v6x.CU,PDB-ENSP_mappings:5aj0.AU,PDB-ENSP_mappings:5lks.LU,PDB-ENSP_mappings:5t2c.O,hmmpanther:PTHR10064,hmmpanther:PTHR10064:SF2,Low_complexity_(Seg):seg HIGH 1 insertion 1 1 PASS TGC . . 8.144e-06 2.98e-05 8.967e-06 6197733 PRAMEF10 . GRCh38 chr1 12893437 12893437 + Missense_Mutation SNP C C G rs61780549 7316-3025 BS_4HD33MVB C C c.904G>C p.Asp302His p.D302H ENST00000235347 4/4 81 52 27 23 21 1 PRAMEF10,missense_variant,p.Asp302His,ENST00000235347,NM_001039361.4; G ENSG00000187545 ENST00000235347 Transcript missense_variant 984/1525 904/1425 302/474 D/H Gat/Cat rs61780549,COSM6239062 1 -1 PRAMEF10 HGNC HGNC:27997 protein_coding YES CCDS41255.1 ENSP00000235347 O60809 UPI000442CF00 NM_001039361.4 tolerated(0.31) benign(0) 4/4 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF28,Superfamily_domains:SSF52047 0,1 MODERATE 1 SNV 1 0,1 PASS TCA . . 0.01928 0.01598 0.0126 0.007576 0.03689 0.0109 0.01952 0.01558 0.01578 12893437 TRIM33 . GRCh38 chr1 114464377 114464377 + Missense_Mutation SNP G G A novel 7316-3025 BS_4HD33MVB G G c.538C>T p.Arg180Trp p.R180W ENST00000358465 2/20 80 40 38 21 21 0 TRIM33,missense_variant,p.Arg180Trp,ENST00000358465,NM_015906.3;TRIM33,missense_variant,p.Arg180Trp,ENST00000369543,NM_033020.2;TRIM33,upstream_gene_variant,,ENST00000448034,;AL035410.1,downstream_gene_variant,,ENST00000427409,;EIF2S2P5,upstream_gene_variant,,ENST00000457635,; A ENSG00000197323 ENST00000358465 Transcript missense_variant 622/8339 538/3384 180/1127 R/W Cgg/Tgg 1 -1 TRIM33 HGNC HGNC:16290 protein_coding YES CCDS872.1 ENSP00000351250 Q9UPN9 UPI000013D8CD NM_015906.3 deleterious(0) probably_damaging(0.994) 2/20 Gene3D:3.30.40.10,Pfam_domain:PF13445,PROSITE_profiles:PS50089,hmmpanther:PTHR44184,hmmpanther:PTHR44184:SF3,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57850,cd16766 MODERATE 1 SNV 1 1 PASS CGT . . 114464377 DENND2C . GRCh38 chr1 114654764 114654764 + Splice_Region SNP A A C novel 7316-3025 BS_4HD33MVB A A c.-573-3T>G ENST00000393274 58 50 6 20 19 0 DENND2C,splice_region_variant,,ENST00000393274,NM_001256404.1;DENND2C,intron_variant,,ENST00000393276,NM_198459.3;DENND2C,intron_variant,,ENST00000493549,; C ENSG00000175984 ENST00000393274 Transcript splice_region_variant,intron_variant 1 -1 DENND2C HGNC HGNC:24748 protein_coding YES CCDS58018.1 ENSP00000376955 Q68D51 UPI000048AF71 NM_001256404.1 1/20 LOW 1 SNV 5 PASS TAA . . 114654764 SMYD2 . GRCh38 chr1 214332063 214332063 + Missense_Mutation SNP T T G novel 7316-3025 BS_4HD33MVB T T c.983T>G p.Met328Arg p.M328R ENST00000366957 10/12 76 69 6 28 28 0 SMYD2,missense_variant,p.Met328Arg,ENST00000366957,NM_020197.2;SMYD2,missense_variant,p.Met47Arg,ENST00000416415,;SMYD2,non_coding_transcript_exon_variant,,ENST00000491455,;SMYD2,non_coding_transcript_exon_variant,,ENST00000460580,;SMYD2,downstream_gene_variant,,ENST00000484459,;SMYD2,non_coding_transcript_exon_variant,,ENST00000471645,;,regulatory_region_variant,,ENSR00000256630,; G ENSG00000143499 ENST00000366957 Transcript missense_variant 1005/1671 983/1302 328/433 M/R aTg/aGg 1 1 SMYD2 HGNC HGNC:20982 protein_coding YES CCDS31022.1 ENSP00000355924 Q9NRG4 UPI0000205E5F NM_020197.2 tolerated(0.14) probably_damaging(0.927) 10/12 hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF193,Gene3D:1.25.40.10 MODERATE 1 SNV 1 PASS ATG . . 214332063 OR2T33 . GRCh38 chr1 248273336 248273336 + Missense_Mutation SNP A A G rs200877558 7316-3025 BS_4HD33MVB A A c.479T>C p.Val160Ala p.V160A ENST00000641220 2/2 89 75 13 41 41 0 OR2T33,missense_variant,p.Val160Ala,ENST00000641220,;OR2T33,missense_variant,p.Val160Ala,ENST00000318021,NM_001004695.1; G ENSG00000177212 ENST00000641220 Transcript missense_variant 699/4118 479/963 160/320 V/A gTt/gCt rs200877558,COSM4143654 1 -1 OR2T33 HGNC HGNC:31255 protein_coding YES CCDS31109.1 ENSP00000493437 Q8NG76 UPI000004B237 tolerated(1) benign(0.001) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15421 benign 0,1 MODERATE 1 SNV 0,1 PASS AAC . . 0.2869 0.1922 0.2665 0.3427 0.1204 0.395 0.3349 0.28 0.2125 248273336 KIF5C . GRCh38 chr2 148998498 148998498 + Missense_Mutation SNP T T G novel 7316-3025 BS_4HD33MVB T T c.2199T>G p.Asp733Glu p.D733E ENST00000435030 19/26 71 59 10 41 40 0 KIF5C,missense_variant,p.Asp733Glu,ENST00000435030,NM_004522.2;KIF5C,non_coding_transcript_exon_variant,,ENST00000464066,;KIF5C,non_coding_transcript_exon_variant,,ENST00000460377,;KIF5C,upstream_gene_variant,,ENST00000482151,; G ENSG00000168280 ENST00000435030 Transcript missense_variant 2567/6931 2199/2874 733/957 D/E gaT/gaG 1 1 KIF5C HGNC HGNC:6325 protein_coding YES CCDS74586.1 ENSP00000393379 O60282 UPI000012DDB7 NM_004522.2 tolerated(0.47) benign(0.007) 19/26 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF380,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS ATG . . 148998498 WDR19 . GRCh38 chr4 39273035 39273035 + Missense_Mutation SNP C C A novel 7316-3025 BS_4HD33MVB C C c.3539C>A p.Ala1180Asp p.A1180D ENST00000399820 32/37 86 43 43 35 35 0 WDR19,missense_variant,p.Ala1180Asp,ENST00000399820,NM_025132.3,NM_001317924.1;WDR19,3_prime_UTR_variant,,ENST00000506869,;WDR19,non_coding_transcript_exon_variant,,ENST00000512095,;WDR19,non_coding_transcript_exon_variant,,ENST00000512534,;WDR19,upstream_gene_variant,,ENST00000503733,;WDR19,upstream_gene_variant,,ENST00000512588,; A ENSG00000157796 ENST00000399820 Transcript missense_variant 3693/4520 3539/4029 1180/1342 A/D gCc/gAc 1 1 WDR19 HGNC HGNC:18340 protein_coding YES CCDS47042.1 ENSP00000382717 Q8NEZ3 UPI000004CC24 NM_025132.3,NM_001317924.1 deleterious(0) possibly_damaging(0.899) 32/37 hmmpanther:PTHR14920 MODERATE 1 SNV 1 1 PASS GCC . . 39273035 CXCL6 . GRCh38 chr4 73837253 73837253 + Missense_Mutation SNP T T C novel 7316-3025 BS_4HD33MVB T T c.293T>C p.Phe98Ser p.F98S ENST00000226317 3/4 81 43 38 23 23 0 CXCL6,missense_variant,p.Phe98Ser,ENST00000226317,NM_002993.3;CXCL6,missense_variant,p.Phe98Ser,ENST00000515050,;CXCL6,non_coding_transcript_exon_variant,,ENST00000503446,; C ENSG00000124875 ENST00000226317 Transcript missense_variant 547/1718 293/345 98/114 F/S tTt/tCt 1 1 CXCL6 HGNC HGNC:10643 protein_coding YES CCDS3560.1 ENSP00000226317 P80162 UPI0000136772 NM_002993.3 deleterious(0.04) benign(0.121) 3/4 Gene3D:2.40.50.40,Pfam_domain:PF00048,Prints_domain:PR00436,Prints_domain:PR00437,hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF12,SMART_domains:SM00199,Superfamily_domains:SSF54117,cd00273 MODERATE 1 SNV 1 PASS TTT . . 73837253 ANKRD33B . GRCh38 chr5 10564469 10564469 + Translation_Start_Site SNP T T G novel 7316-3025 BS_4HD33MVB T T c.2T>G p.Met1? p.M1? ENST00000296657 1/4 133 121 10 24 22 1 ANKRD33B,start_lost,p.Met1?,ENST00000296657,NM_001164440.1;ANKRD33B,start_lost,p.Met1?,ENST00000504806,;,regulatory_region_variant,,ENSR00000178107,; G ENSG00000164236 ENST00000296657 Transcript start_lost 2/9188 2/1485 1/494 M/R aTg/aGg 1 1 ANKRD33B HGNC HGNC:35240 protein_coding YES CCDS47191.1 ENSP00000296657 A6NCL7 UPI00001D7EE7 NM_001164440.1 deleterious_low_confidence(0) possibly_damaging(0.884) 1/4 mobidb-lite HIGH 1 SNV 5 PASS ATG . . 10564469 CAST . GRCh38 chr5 96662493 96662493 + Missense_Mutation SNP A A C novel 7316-3025 BS_4HD33MVB A A c.71A>C p.His24Pro p.H24P ENST00000395812 1/30 107 98 9 39 38 0 CAST,missense_variant,p.His24Pro,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Pro,ENST00000508830,;CAST,missense_variant,p.His24Pro,ENST00000510756,;CAST,missense_variant,p.His24Pro,ENST00000511097,;CAST,missense_variant,p.His24Pro,ENST00000421689,;CAST,missense_variant,p.His7Pro,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; C ENSG00000153113 ENST00000395812 Transcript missense_variant 257/4506 71/2253 24/750 H/P cAt/cCt 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 deleterious_low_confidence(0.02) benign(0.003) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS CAT . . 96662493 APC . GRCh38 chr5 112838934 112838934 + Nonsense_Mutation SNP C C T rs121913331 7316-3025 BS_4HD33MVB C C c.3340C>T p.Arg1114Ter p.R1114* ENST00000257430 16/16 78 39 39 38 38 0 APC,stop_gained,p.Arg1114Ter,ENST00000257430,NM_000038.5,NM_001354897.1,NM_001354898.1,NM_001354895.1,NM_001354901.1,NM_001354899.1;APC,stop_gained,p.Arg1114Ter,ENST00000508376,NM_001127510.2;APC,stop_gained,p.Arg1114Ter,ENST00000512211,;APC,stop_gained,p.Arg1096Ter,ENST00000507379,NM_001127511.2;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;APC,3_prime_UTR_variant,,ENST00000502371,;AC008575.1,intron_variant,,ENST00000520401,; T ENSG00000134982 ENST00000257430 Transcript stop_gained 3396/10701 3340/8532 1114/2843 R/* Cga/Tga rs121913331,CM920048,COSM6917114,COSM6191405,COSM13125 1 1 APC HGNC HGNC:583 protein_coding YES CCDS4107.1 ENSP00000257430 P25054 UPI000013CF60 NM_000038.5,NM_001354897.1,NM_001354898.1,NM_001354895.1,NM_001354901.1,NM_001354899.1 16/16 mobidb-lite,hmmpanther:PTHR12607:SF11,hmmpanther:PTHR12607,Pfam_domain:PF16630 likely_pathogenic,pathogenic 0,0,1,1,1 HIGH SNV 5 1,1,1,1,1 1 PASS TCG . . 112838934 GATAD1 . GRCh38 chr7 92447850 92447850 + Missense_Mutation SNP A A C novel 7316-3025 BS_4HD33MVB A A c.121A>C p.Ser41Arg p.S41R ENST00000287957 1/5 130 120 6 29 29 0 GATAD1,missense_variant,p.Ser41Arg,ENST00000287957,NM_021167.4;TMBIM7P,upstream_gene_variant,,ENST00000641474,;GATAD1,missense_variant,p.Ser41Arg,ENST00000645746,;GATAD1,upstream_gene_variant,,ENST00000493878,;GATAD1,upstream_gene_variant,,ENST00000644160,;,regulatory_region_variant,,ENSR00000215088,;,TF_binding_site_variant,,PB0010.1,; C ENSG00000157259 ENST00000287957 Transcript missense_variant 403/3962 121/810 41/269 S/R Agc/Cgc 1 1 GATAD1 HGNC HGNC:29941 protein_coding YES CCDS5625.1 ENSP00000287957 Q8WUU5 UPI000006FF00 NM_021167.4 tolerated(0.42) benign(0.024) 1/5 Low_complexity_(Seg):seg,hmmpanther:PTHR13340,Gene3D:3.30.50.10 MODERATE 1 SNV 1 1 PASS CAG . . 92447850 CHPF2 . GRCh38 chr7 151238304 151238304 + Missense_Mutation SNP T T A novel 7316-3025 BS_4HD33MVB T T c.1942T>A p.Ser648Thr p.S648T ENST00000035307 4/4 103 84 7 23 19 0 CHPF2,missense_variant,p.Ser648Thr,ENST00000035307,NM_019015.2;CHPF2,missense_variant,p.Ser640Thr,ENST00000495645,NM_001284295.1;SMARCD3,downstream_gene_variant,,ENST00000262188,NM_001003801.1;SMARCD3,downstream_gene_variant,,ENST00000356800,NM_001003802.1;SMARCD3,downstream_gene_variant,,ENST00000392811,NM_003078.3;CHPF2,downstream_gene_variant,,ENST00000482173,;SMARCD3,downstream_gene_variant,,ENST00000491651,;MIR671,upstream_gene_variant,,ENST00000390183,;AC021097.1,upstream_gene_variant,,ENST00000607902,;SMARCD3,downstream_gene_variant,,ENST00000460431,;SMARCD3,downstream_gene_variant,,ENST00000477169,;SMARCD3,downstream_gene_variant,,ENST00000489503,;SMARCD3,downstream_gene_variant,,ENST00000496530,;CHPF2,downstream_gene_variant,,ENST00000465601,;SMARCD3,downstream_gene_variant,,ENST00000469154,;SMARCD3,downstream_gene_variant,,ENST00000470588,;SMARCD3,downstream_gene_variant,,ENST00000472103,;SMARCD3,downstream_gene_variant,,ENST00000472789,;SMARCD3,downstream_gene_variant,,ENST00000472988,;SMARCD3,downstream_gene_variant,,ENST00000485592,;SMARCD3,downstream_gene_variant,,ENST00000485610,; A ENSG00000033100 ENST00000035307 Transcript missense_variant 3455/3978 1942/2319 648/772 S/T Tcc/Acc 1 1 CHPF2 HGNC HGNC:29270 protein_coding YES CCDS34779.1 ENSP00000035307 Q9P2E5 UPI000003F537 NM_019015.2 tolerated(0.7) benign(0.415) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF14,Pfam_domain:PF05679 MODERATE 1 SNV 1 PASS CTC . . 151238304 KMT2D . GRCh38 chr12 49041367 49041367 + Missense_Mutation SNP A A C novel 7316-3025 BS_4HD33MVB A A c.6403T>G p.Leu2135Val p.L2135V ENST00000301067 31/54 92 68 15 28 27 1 KMT2D,missense_variant,p.Leu2135Val,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,; C ENSG00000167548 ENST00000301067 Transcript missense_variant 6403/19419 6403/16614 2135/5537 L/V Ttg/Gtg 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 deleterious_low_confidence(0.02) benign(0.091) 31/54 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380 MODERATE 1 SNV 5 1 PASS AAG . . 49041367 OR10G3 . GRCh38 chr14 21570005 21570005 + Missense_Mutation SNP G G T novel 7316-3025 BS_4HD33MVB G G c.740C>A p.Thr247Asn p.T247N ENST00000641185 3/3 80 41 37 35 34 0 OR10G3,missense_variant,p.Thr247Asn,ENST00000641185,;OR10G3,missense_variant,p.Thr247Asn,ENST00000641040,;OR10G3,missense_variant,p.Thr247Asn,ENST00000303532,NM_001005465.1;OR10G3,non_coding_transcript_exon_variant,,ENST00000641655,;RBBP4P5,downstream_gene_variant,,ENST00000398583,; T ENSG00000169208 ENST00000641185 Transcript missense_variant 1155/2640 740/942 247/313 T/N aCc/aAc 1 -1 OR10G3 HGNC HGNC:8171 protein_coding YES CCDS32046.1 ENSP00000492973 Q8NGC4 A0A126GWE3 UPI000003CAB2 deleterious(0) probably_damaging(0.974) 3/3 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF69,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix MODERATE 1 SNV PASS GGT . . 21570005 SLC25A47 . GRCh38 chr14 100328837 100328837 + Missense_Mutation SNP A A C novel 7316-3025 BS_4HD33MVB A A c.439A>C p.Met147Leu p.M147L ENST00000361529 5/6 123 114 6 38 38 0 SLC25A47,start_lost,p.Met1?,ENST00000557052,;SLC25A47,missense_variant,p.Met147Leu,ENST00000361529,NM_207117.2;WARS,downstream_gene_variant,,ENST00000344102,NM_213646.1;WARS,downstream_gene_variant,,ENST00000355338,NM_173701.1;WARS,downstream_gene_variant,,ENST00000358655,NM_213645.1;WARS,downstream_gene_variant,,ENST00000392882,NM_004184.3;AL157871.4,upstream_gene_variant,,ENST00000557226,;,regulatory_region_variant,,ENSR00000073117,; C ENSG00000140107 ENST00000361529 Transcript missense_variant 517/1738 439/927 147/308 M/L Atg/Ctg 1 1 SLC25A47 HGNC HGNC:20115 protein_coding YES CCDS9959.1 ENSP00000354886 Q6Q0C1 A0A024R6H7 UPI000004ABFB NM_207117.2 tolerated_low_confidence(1) benign(0) 5/6 Gene3D:1.50.40.10,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF224,Superfamily_domains:SSF103506,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAT . . 100328837 MADCAM1 . GRCh38 chr19 501786 501786 + Missense_Mutation SNP C C A rs77264553 7316-3025 BS_4HD33MVB C C c.785C>A p.Pro262Gln p.P262Q ENST00000215637 4/5 77 61 12 32 30 0 MADCAM1,missense_variant,p.Pro43Gln,ENST00000587541,;MADCAM1,missense_variant,p.Pro262Gln,ENST00000215637,NM_130760.2;MADCAM1,missense_variant,p.Pro286Gln,ENST00000613880,;MADCAM1,missense_variant,p.Pro280Gln,ENST00000617201,;MADCAM1,missense_variant,p.Pro278Gln,ENST00000619333,;MADCAM1,missense_variant,p.Pro270Gln,ENST00000622462,;MADCAM1,missense_variant,p.Pro280Gln,ENST00000621286,;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.1,intron_variant,,ENST00000592413,;MADCAM1,downstream_gene_variant,,ENST00000622449,;,regulatory_region_variant,,ENSR00000286952,; A ENSG00000099866 ENST00000215637 Transcript missense_variant 831/1572 785/1149 262/382 P/Q cCg/cAg rs77264553,COSM439992 1 1 MADCAM1 HGNC HGNC:6765 protein_coding YES CCDS12028.1 ENSP00000215637 Q13477 UPI000013C68F NM_130760.2 tolerated(0.61) benign(0.007) 4/5 hmmpanther:PTHR14162,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 0.1053 0.1964 0.07782 0.04785 0.1274 0.1189 0.1286 0.07752 0.05871 501786 C1QTNF6 . GRCh38 chr22 37182469 37182469 + Missense_Mutation SNP G G C novel 7316-3025 BS_4HD33MVB G G c.556C>G p.Pro186Ala p.P186A ENST00000337843 3/3 104 50 54 36 36 0 C1QTNF6,missense_variant,p.Pro186Ala,ENST00000337843,NM_031910.3;C1QTNF6,missense_variant,p.Pro186Ala,ENST00000397110,NM_182486.1;C1QTNF6,3_prime_UTR_variant,,ENST00000434784,;Z82188.2,non_coding_transcript_exon_variant,,ENST00000419128,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000470655,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000493023,; C ENSG00000133466 ENST00000337843 Transcript missense_variant 632/2934 556/837 186/278 P/A Ccc/Gcc 1 -1 C1QTNF6 HGNC HGNC:14343 protein_coding YES CCDS13943.1 ENSP00000338812 Q9BXI9 A0A024R1J0 UPI0000035BB4 NM_031910.3 tolerated(0.51) benign(0.07) 3/3 PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF70,hmmpanther:PTHR22923,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007 MODERATE 1 SNV 1 PASS GGA . . 37182469 RBMXL3 . GRCh38 chrX 115192020 115192020 + Missense_Mutation SNP A A G 7316-3025 BS_4HD33MVB A A c.2579A>G p.His860Arg p.H860R ENST00000424776 1/1 39 32 5 23 22 0 RBMXL3,missense_variant,p.His860Arg,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1; G ENSG00000175718 ENST00000424776 Transcript missense_variant 2594/3442 2579/3204 860/1067 H/R cAc/cGc COSM6209403 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.76) benign(0.01) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 1 MODERATE SNV 1 PASS CAC . . 115192020 MUC1 . GRCh38 chr1 155192019 155192019 + Missense_Mutation SNP A A G rs1269729979 7316-6 BS_GKFY1GX4 A A c.350T>C p.Leu117Pro p.L117P ENST00000612778 2/8 82 66 12 27 25 0 MUC1,missense_variant,p.Leu108Pro,ENST00000611571,;MUC1,missense_variant,p.Leu117Pro,ENST00000612778,NM_001204286.1;MUC1,missense_variant,p.Leu108Pro,ENST00000620103,NM_001204285.1;MUC1,missense_variant,p.Leu105Pro,ENST00000611577,;MUC1,intron_variant,,ENST00000337604,NM_001204287.1,NM_002456.5;MUC1,intron_variant,,ENST00000338684,NM_001204291.1,NM_001204289.1;MUC1,intron_variant,,ENST00000342482,;MUC1,intron_variant,,ENST00000343256,NM_001204296.1,NM_001044390.2;MUC1,intron_variant,,ENST00000368389,NM_001204297.1;MUC1,intron_variant,,ENST00000368390,NM_001018017.2;MUC1,intron_variant,,ENST00000368392,NM_001204288.1,NM_001018016.2;MUC1,intron_variant,,ENST00000368393,NM_001204293.1;MUC1,intron_variant,,ENST00000368396,NM_001044391.2,NM_001044392.2;MUC1,intron_variant,,ENST00000368398,NM_001204294.1;MUC1,intron_variant,,ENST00000438413,NM_001204290.1;MUC1,intron_variant,,ENST00000457295,;MUC1,intron_variant,,ENST00000462215,;MUC1,intron_variant,,ENST00000471283,NM_001044393.2;MUC1,intron_variant,,ENST00000610359,NM_001204292.1;MUC1,intron_variant,,ENST00000614519,;MUC1,intron_variant,,ENST00000615517,NM_001204295.1;THBS3,downstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,downstream_gene_variant,,ENST00000457183,NM_001252608.1;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000485118,;THBS3,downstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,downstream_gene_variant,,ENST00000541990,;MIR92B,upstream_gene_variant,,ENST00000607575,;AC234582.1,upstream_gene_variant,,ENST00000447623,;MUC1,downstream_gene_variant,,ENST00000466913,;MUC1,non_coding_transcript_exon_variant,,ENST00000620770,;MUC1,intron_variant,,ENST00000467134,;MUC1,intron_variant,,ENST00000498431,;MUC1,intron_variant,,ENST00000610468,;MUC1,upstream_gene_variant,,ENST00000468978,;THBS3,downstream_gene_variant,,ENST00000469769,;AL713999.1,upstream_gene_variant,,ENST00000473363,;THBS3,downstream_gene_variant,,ENST00000498500,;,regulatory_region_variant,,ENSR00000014040,; G ENSG00000185499 ENST00000612778 Transcript missense_variant 422/1836 350/1455 117/484 L/P cTg/cCg rs1269729979 1 -1 MUC1 HGNC HGNC:7508 protein_coding YES CCDS72933.1 ENSP00000484824 A0A087X2A4 UPI000059C524 NM_001204286.1 tolerated(0.2) benign(0) 2/8 hmmpanther:PTHR10006,mobidb-lite MODERATE SNV 5 1 PASS CAG . . 8.591e-05 9.081e-05 4.674e-05 0.0001468 0.0001915 155192019 RREB1 . GRCh38 chr6 7229559 7229559 + Missense_Mutation SNP C C T rs781765966 7316-6 BS_GKFY1GX4 C C c.1460C>T p.Pro487Leu p.P487L ENST00000379938 10/13 49 22 25 27 26 0 RREB1,missense_variant,p.Pro487Leu,ENST00000379938,NM_001003699.3;RREB1,missense_variant,p.Pro487Leu,ENST00000349384,NM_001003698.3;RREB1,missense_variant,p.Pro487Leu,ENST00000379933,NM_001168344.1;RREB1,missense_variant,p.Pro487Leu,ENST00000334984,NM_001003700.1;RREB1,missense_variant,p.Pro487Leu,ENST00000483150,;RREB1,upstream_gene_variant,,ENST00000611109,; T ENSG00000124782 ENST00000379938 Transcript missense_variant 1997/8778 1460/5229 487/1742 P/L cCg/cTg rs781765966,COSM1672221,COSM1672220 1 1 RREB1 HGNC HGNC:10449 protein_coding YES CCDS34335.1 ENSP00000369270 Q92766 UPI000020E496 NM_001003699.3 deleterious(0) benign(0.356) 10/13 Gene3D:3.30.160.60,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CCG . . 1.636e-05 5.97e-05 4.489e-05 9.046e-06 7229559 MUCL3 . GRCh38 chr6 30950913 30950913 + Missense_Mutation SNP T T C rs1340711036 7316-6 BS_GKFY1GX4 T T c.2449T>C p.Ser817Pro p.S817P ENST00000462446 2/3 49 34 8 38 34 1 MUCL3,missense_variant,p.Ser884Pro,ENST00000636043,;MUCL3,missense_variant,p.Ser817Pro,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; C ENSG00000168631 ENST00000462446 Transcript missense_variant 2477/5314 2449/4182 817/1393 S/P Tca/Cca rs1340711036,COSM5956650 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.32) benign(0.026) 2/3 mobidb-lite,hmmpanther:PTHR22094,hmmpanther:PTHR22094 0,1 MODERATE SNV 5 0,1 1 PASS ATC . . 0.000104 0.0008248 4.916e-05 0.0002719 5.673e-05 0.0008787 30950913 ZNF316 . GRCh38 chr7 6654201 6654201 + Missense_Mutation SNP G G T novel 7316-6 BS_GKFY1GX4 G G c.2605G>T p.Ala869Ser p.A869S ENST00000382252 9/9 50 41 6 21 21 0 ZNF316,missense_variant,p.Ala869Ser,ENST00000382252,NM_001278559.1;,regulatory_region_variant,,ENSR00000208253,; T ENSG00000205903 ENST00000382252 Transcript missense_variant 3161/5392 2605/3015 869/1004 A/S Gcg/Tcg 1 1 ZNF316 HGNC HGNC:13843 protein_coding YES CCDS75563.1 ENSP00000477706 A6NFI3 UPI0000D61BFB NM_001278559.1 tolerated(0.45) possibly_damaging(0.703) 9/9 Gene3D:2.20.28.30,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24408,hmmpanther:PTHR24408:SF17,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS CGC . . 6654201 MUC17 . GRCh38 chr7 101037244 101037244 + Missense_Mutation SNP T T C rs201855491 7316-6 BS_GKFY1GX4 T T c.5828T>C p.Ile1943Thr p.I1943T ENST00000306151 3/13 74 62 9 33 32 0 MUC17,missense_variant,p.Ile1943Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile1943Thr,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 5892/14247 5828/13482 1943/4493 I/T aTc/aCc rs201855491,COSM3922359 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.24) benign(0) 3/13 hmmpanther:PTHR37999 0,1 MODERATE 1 SNV 1 0,1 PASS ATC . . 101037244 PRSS2 . GRCh38 chr7 142773267 142773267 + Missense_Mutation SNP C C T rs762157233 7316-6 BS_GKFY1GX4 C C c.244C>T p.Arg82Cys p.R82C ENST00000633969 4/6 87 74 12 36 36 0 PRSS2,missense_variant,p.Arg82Cys,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Arg68Cys,ENST00000632998,;PRSS2,missense_variant,p.Arg82Cys,ENST00000632805,;PRSS2,missense_variant,p.Arg68Cys,ENST00000539842,NM_002770.3;PRSS2,splice_region_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,; T ENSG00000275896 ENST00000633969 Transcript missense_variant,splice_region_variant 260/852 244/786 82/261 R/C Cgc/Tgc rs762157233 1 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9 UPI0001578AE2 NM_001303414.1 deleterious(0) benign(0.074) 4/6 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 MODERATE 1 SNV 1 1 PASS CCG . . 142773267 RBM12B . GRCh38 chr8 93734320 93734320 + Missense_Mutation SNP A A C rs1379472991 7316-6 BS_GKFY1GX4 A A c.2091T>G p.Asp697Glu p.D697E ENST00000399300 3/3 87 67 11 36 34 0 RBM12B,missense_variant,p.Asp697Glu,ENST00000399300,NM_203390.2;RBM12B,intron_variant,,ENST00000517700,;RBM12B,intron_variant,,ENST00000627241,;FAM92A,downstream_gene_variant,,ENST00000518322,NM_145269.4;RBM12B,downstream_gene_variant,,ENST00000518597,;RBM12B,downstream_gene_variant,,ENST00000519109,;RBM12B,downstream_gene_variant,,ENST00000520560,;RBM12B,downstream_gene_variant,,ENST00000521947,;AC010834.1,downstream_gene_variant,,ENST00000517998,;RBM12B,intron_variant,,ENST00000520961,; C ENSG00000183808 ENST00000399300 Transcript missense_variant 2305/7269 2091/3006 697/1001 D/E gaT/gaG rs1379472991,COSM1674009 1 -1 RBM12B HGNC HGNC:32310 protein_coding YES CCDS43755.1 ENSP00000382239 Q8IXT5 UPI0000E9B14C NM_203390.2 tolerated_low_confidence(1) benign(0) 3/3 Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF28,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 2 0,1 PASS CAT . . 93734320 BAG1 . GRCh38 chr9 33264401 33264401 + Missense_Mutation SNP A A C novel 7316-6 BS_GKFY1GX4 A A c.274T>G p.Leu92Val p.L92V ENST00000634734 1/7 69 54 9 37 33 1 BAG1,missense_variant,p.Leu92Val,ENST00000634734,NM_004323.5,NM_001349286.1,NM_001349299.1;BAG1,missense_variant,p.Leu92Val,ENST00000641048,;BAG1,missense_variant,p.Leu92Val,ENST00000643906,;BAG1,5_prime_UTR_variant,,ENST00000379704,NM_001172415.1;BAG1,5_prime_UTR_variant,,ENST00000473781,;BAG1,5_prime_UTR_variant,,ENST00000635077,;BAG1,5_prime_UTR_variant,,ENST00000488499,;CHMP5,upstream_gene_variant,,ENST00000223500,NM_016410.5;CHMP5,upstream_gene_variant,,ENST00000419016,NM_001195536.1;BAG1,upstream_gene_variant,,ENST00000473464,;BAG1,upstream_gene_variant,,ENST00000467389,;BAG1,5_prime_UTR_variant,,ENST00000379707,;BAG1,upstream_gene_variant,,ENST00000379701,;,regulatory_region_variant,,ENSR00000234376,; C ENSG00000107262 ENST00000634734 Transcript missense_variant 274/3786 274/1038 92/345 L/V Ttg/Gtg 1 -1 BAG1 HGNC HGNC:937 protein_coding YES CCDS35004.1 ENSP00000489189 J3QTA2 UPI000013C843 NM_004323.5,NM_001349286.1,NM_001349299.1 tolerated_low_confidence(1) benign(0) 1/7 hmmpanther:PTHR12329,hmmpanther:PTHR12329:SF16,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 33264401 HNRNPF . GRCh38 chr10 43387616 43387616 + Missense_Mutation SNP C C T novel 7316-6 BS_GKFY1GX4 C C c.269G>A p.Arg90Lys p.R90K ENST00000443950 3/3 88 65 22 44 44 0 HNRNPF,missense_variant,p.Arg90Lys,ENST00000443950,NM_001098208.1;HNRNPF,missense_variant,p.Arg90Lys,ENST00000544000,NM_001098207.1;HNRNPF,missense_variant,p.Arg90Lys,ENST00000356053,NM_001098205.1;HNRNPF,missense_variant,p.Arg90Lys,ENST00000357065,NM_001098206.1;HNRNPF,missense_variant,p.Arg90Lys,ENST00000337970,NM_001098204.1,NM_004966.3;HNRNPF,missense_variant,p.Arg90Lys,ENST00000477108,;HNRNPF,downstream_gene_variant,,ENST00000498176,; T ENSG00000169813 ENST00000443950 Transcript missense_variant 756/2755 269/1248 90/415 R/K aGa/aAa 1 -1 HNRNPF HGNC HGNC:5039 protein_coding YES CCDS7204.1 ENSP00000400433 P52597 A0A024R7T3 UPI0000000C5C NM_001098208.1 tolerated(0.21) benign(0) 3/3 PDB-ENSP_mappings:2hgl.A,PDB-ENSP_mappings:2kfy.A,Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF32,Superfamily_domains:SSF54928 MODERATE 1 SNV 1 PASS TCT . . 43387616 MUC5AC . GRCh38 chr11 1187260 1187260 + Missense_Mutation SNP A A G rs1315845238 7316-6 BS_GKFY1GX4 A A c.9115A>G p.Thr3039Ala p.T3039A ENST00000621226 31/49 57 40 8 23 23 0 MUC5AC,missense_variant,p.Thr3039Ala,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; G ENSG00000215182 ENST00000621226 Transcript missense_variant 9162/17448 9115/16965 3039/5654 T/A Acc/Gcc rs1315845238 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated_low_confidence(0.43) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TAC . . 1187260 AHNAK . GRCh38 chr11 62526050 62526050 + Missense_Mutation SNP G G C rs1471922470 7316-6 BS_GKFY1GX4 G G c.8367C>G p.Asn2789Lys p.N2789K ENST00000378024 5/5 76 70 6 28 27 0 AHNAK,missense_variant,p.Asn2789Lys,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; C ENSG00000124942 ENST00000378024 Transcript missense_variant 8642/18787 8367/17673 2789/5890 N/K aaC/aaG rs1471922470 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.31) benign(0.014) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 MODERATE 1 SNV 2 PASS GGT . . 62526050 AHNAK . GRCh38 chr11 62528598 62528598 + Missense_Mutation SNP A A G rs750822867 7316-6 BS_GKFY1GX4 A A c.5819T>C p.Val1940Ala p.V1940A ENST00000378024 5/5 56 43 12 31 30 0 AHNAK,missense_variant,p.Val1940Ala,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; G ENSG00000124942 ENST00000378024 Transcript missense_variant 6094/18787 5819/17673 1940/5890 V/A gTg/gCg rs750822867,COSM4399669,COSM1298305 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 deleterious(0.02) benign(0.001) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CAC . . 3.666e-05 0.0001163 0.0002283 62528598 SLC22A12 . GRCh38 chr11 64593505 64593505 + Missense_Mutation SNP C C T rs374743769 7316-6 BS_GKFY1GX4 C C c.607C>T p.Arg203Cys p.R203C ENST00000377574 3/10 72 37 34 35 35 0 SLC22A12,missense_variant,p.Arg203Cys,ENST00000377574,NM_144585.3;SLC22A12,intron_variant,,ENST00000336464,NM_001276326.1;SLC22A12,intron_variant,,ENST00000377567,;SLC22A12,intron_variant,,ENST00000377572,NM_001276327.1;SLC22A12,intron_variant,,ENST00000473690,NM_153378.2; T ENSG00000197891 ENST00000377574 Transcript missense_variant 1354/3206 607/1662 203/553 R/C Cgc/Tgc rs374743769 1 1 SLC22A12 HGNC HGNC:17989 protein_coding YES CCDS8075.1 ENSP00000366797 Q96S37 UPI0000040C17 NM_144585.3 deleterious(0) probably_damaging(1) 3/10 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,cd06174,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF205,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473 MODERATE 1 SNV 1 1 PASS CCG . . 1.218e-05 2.686e-05 64593505 CGRRF1 . GRCh38 chr14 54530196 54530196 + Missense_Mutation SNP A A G rs199977377 7316-6 BS_GKFY1GX4 A A c.392A>G p.Tyr131Cys p.Y131C ENST00000216420 3/6 84 75 9 51 51 0 CGRRF1,missense_variant,p.Tyr131Cys,ENST00000216420,NM_006568.2;CGRRF1,missense_variant,p.Tyr163Cys,ENST00000557317,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000557512,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000557184,;CGRRF1,3_prime_UTR_variant,,ENST00000557755,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000556216,;CGRRF1,intron_variant,,ENST00000554791,;,regulatory_region_variant,,ENSR00000068705,; G ENSG00000100532 ENST00000216420 Transcript missense_variant 524/2057 392/999 131/332 Y/C tAt/tGt rs199977377,COSM956303 1 1 CGRRF1 HGNC HGNC:15528 protein_coding YES CCDS9719.1 ENSP00000216420 Q99675 UPI00000712D0 NM_006568.2 tolerated(0.17) possibly_damaging(0.887) 3/6 hmmpanther:PTHR15379 0,1 MODERATE 1 SNV 1 0,1 PASS TAT . . 3.28e-05 0.0001218 1.801e-05 0.0001855 3.299e-05 54530196 ADAMTS7P4 . GRCh38 chr15 85261776 85261776 + Splice_Region SNP C C T rs1810173 7316-6 BS_GKFY1GX4 C C n.2594G>A ENST00000561209 8/13 34 26 8 22 22 0 ADAMTS7P4,splice_region_variant,,ENST00000561209,; T ENSG00000218052 ENST00000561209 Transcript splice_region_variant,non_coding_transcript_exon_variant 2594/3611 rs1810173 1 -1 ADAMTS7P4 HGNC HGNC:49410 transcribed_unprocessed_pseudogene YES 8/13 LOW 1 SNV PASS TCG . . 85261776 DHX40 . GRCh38 chr17 59586236 59586236 + Splice_Region DEL A A - rs58298344 7316-6 BS_GKFY1GX4 A A c.1424+20del ENST00000251241 89 46 23 21 12 0 DHX40,splice_region_variant,,ENST00000251241,NM_024612.4;DHX40,splice_region_variant,,ENST00000425628,NM_001166301.1;DHX40,intron_variant,,ENST00000538926,;DHX40,upstream_gene_variant,,ENST00000583439,; - ENSG00000108406 ENST00000251241 Transcript splice_region_variant,intron_variant rs58298344,COSM4999839,COSM4999838 1 1 DHX40 HGNC HGNC:18018 protein_coding YES CCDS11617.1 ENSP00000251241 Q8IX18 UPI000006E150 NM_024612.4 11/17 0.5072 0.5787 0.4654 0.5268 0.4145 0.5153 0,1,1 LOW 1 deletion 1 17 0,1,1 PASS GTAA . . 0.4585 0.4259 0.4423 0.4771 0.4581 0.4612 0.4593 0.4493 0.4729 59586235 TXNDC2 . GRCh38 chr18 9886897 9886897 + Missense_Mutation SNP A A G rs866284036 7316-6 BS_GKFY1GX4 A A c.418A>G p.Lys140Glu p.K140E ENST00000306084 2/2 62 50 9 23 22 0 TXNDC2,missense_variant,p.Lys73Glu,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Lys140Glu,ENST00000611534,;TXNDC2,missense_variant,p.Lys140Glu,ENST00000306084,NM_001098529.1;TXNDC2,missense_variant,p.Lys73Glu,ENST00000536353,;TXNDC2,missense_variant,p.Lys73Glu,ENST00000584255,;TXNDC2,non_coding_transcript_exon_variant,,ENST00000426718,; G ENSG00000168454 ENST00000306084 Transcript missense_variant 617/1873 418/1662 140/553 K/E Aaa/Gaa rs866284036,COSM417786,COSM417785 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(0.21) benign(0.063) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAA . . 4.548e-05 0.000132 0.0005352 9886897 ZNF66 . GRCh38 chr19 20806598 20806598 + Missense_Mutation SNP G G A 7316-6 BS_GKFY1GX4 G G c.998G>A p.Arg333Lys p.R333K ENST00000344519 4/4 92 77 6 39 35 0 ZNF66,missense_variant,p.Arg333Lys,ENST00000344519,; A ENSG00000160229 ENST00000344519 Transcript missense_variant 1021/1745 998/1722 333/573 R/K aGa/aAa COSM993589,COSM1589942 1 1 ZNF66 HGNC HGNC:13135 protein_coding YES ENSP00000461425 Q6ZN08 UPI00025A2C0A tolerated(0.31) benign(0.023) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 3 1,1 PASS AGA . . 20806598 ZNF493 . GRCh38 chr19 21424324 21424324 + Missense_Mutation SNP T T G rs1214962670 7316-6 BS_GKFY1GX4 T T c.1665T>G p.Asn555Lys p.N555K ENST00000392288 4/4 83 74 6 51 50 1 ZNF493,missense_variant,p.Asn555Lys,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.Asn427Lys,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;AC010615.4,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,; G ENSG00000196268 ENST00000392288 Transcript missense_variant 1774/5023 1665/2325 555/774 N/K aaT/aaG rs1214962670 1 1 ZNF493 HGNC HGNC:23708 protein_coding YES CCDS42536.1 ENSP00000376110 Q6ZR52 UPI000022ABBF NM_001076678.2 tolerated(0.43) benign(0.12) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,hmmpanther:PTHR24384:SF134,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATC . . 21424324 ZNF257 . GRCh38 chr19 22088853 22088853 + Missense_Mutation SNP A A G rs775319866 7316-6 BS_GKFY1GX4 A A c.1103A>G p.Lys368Arg p.K368R ENST00000594947 4/4 79 66 9 29 28 0 ZNF257,missense_variant,p.Lys368Arg,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; G ENSG00000197134 ENST00000594947 Transcript missense_variant 1247/3874 1103/1692 368/563 K/R aAa/aGa rs775319866,COSM6991452 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 tolerated(0.07) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:2.30.30.380,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 4 0,1 PASS AAA . . 1.64e-05 8.987e-05 9.026e-06 3.299e-05 22088853 ZNF676 . GRCh38 chr19 22180206 22180206 + Missense_Mutation SNP C C G rs202153135 7316-6 BS_GKFY1GX4 C C c.1511G>C p.Arg504Pro p.R504P ENST00000397121 3/3 66 54 9 29 29 0 ZNF676,missense_variant,p.Arg504Pro,ENST00000397121,NM_001001411.2; G ENSG00000196109 ENST00000397121 Transcript missense_variant 1829/2944 1511/1767 504/588 R/P cGc/cCc rs202153135,COSM1471062 1 -1 ZNF676 HGNC HGNC:20429 protein_coding YES CCDS42539.1 ENSP00000380310 Q8N7Q3 UPI00002376EC NM_001001411.2 tolerated(1) benign(0.005) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0.0002 0.0008 0,1 MODERATE 1 SNV 2 0,1 PASS GCG . . 2.578e-05 0.0001361 3.279e-05 1.863e-05 3.557e-05 22180206 ZNF480 . GRCh38 chr19 52322286 52322286 + Missense_Mutation SNP G G A rs1246348105 7316-6 BS_GKFY1GX4 G G c.1036G>A p.Asp346Asn p.D346N ENST00000595962 5/5 88 81 7 40 40 0 ZNF480,missense_variant,p.Asp346Asn,ENST00000595962,NM_144684.3;ZNF480,missense_variant,p.Asp269Asn,ENST00000335090,NM_001297625.1;ZNF480,missense_variant,p.Asp303Asn,ENST00000334564,NM_001297624.1;ZNF480,3_prime_UTR_variant,,ENST00000490272,;ZNF480,downstream_gene_variant,,ENST00000598016,;AC010320.4,intron_variant,,ENST00000594379,;ZNF480,missense_variant,p.Asp346Asn,ENST00000468240,; A ENSG00000198464 ENST00000595962 Transcript missense_variant 1102/4738 1036/1608 346/535 D/N Gat/Aat rs1246348105 1 1 ZNF480 HGNC HGNC:23305 protein_coding YES CCDS12850.2 ENSP00000471754 Q8WV37 UPI0000202AEF NM_144684.3 tolerated(1) benign(0.003) 5/5 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF703,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TGA . . 52322286 ZNF468 . GRCh38 chr19 52841329 52841329 + Missense_Mutation SNP G G C rs751198207 7316-6 BS_GKFY1GX4 G G c.965C>G p.Thr322Ser p.T322S ENST00000595646 4/4 89 81 5 35 35 0 ZNF468,missense_variant,p.Thr322Ser,ENST00000595646,NM_001008801.1;ZNF468,3_prime_UTR_variant,,ENST00000243639,NM_001277120.1;ZNF28,intron_variant,,ENST00000594602,;ZNF28,intron_variant,,ENST00000596559,;ZNF468,downstream_gene_variant,,ENST00000396409,;ZNF468,downstream_gene_variant,,ENST00000597924,;ZNF468,downstream_gene_variant,,ENST00000601847,;ZNF468,downstream_gene_variant,,ENST00000601980,;ZNF468,downstream_gene_variant,,ENST00000602144,; C ENSG00000204604 ENST00000595646 Transcript missense_variant 1086/4407 965/1569 322/522 T/S aCt/aGt rs751198207,COSM6252264,COSM5956849 1 -1 ZNF468 HGNC HGNC:33105 protein_coding YES CCDS33094.1 ENSP00000470381 Q5VIY5 UPI00001D8191 NM_001008801.1 tolerated(0.08) benign(0.028) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF301,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGT . . 4.064e-06 5.798e-05 52841329 ZNF343 . GRCh38 chr20 2483504 2483504 + Missense_Mutation SNP G G A rs141593520 7316-6 BS_GKFY1GX4 G G c.1580C>T p.Thr527Ile p.T527I ENST00000612935 8/8 37 27 8 25 24 1 ZNF343,missense_variant,p.Thr527Ile,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Thr486Ile,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Thr396Ile,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; A ENSG00000088876 ENST00000612935 Transcript missense_variant 1994/3675 1580/1923 527/640 T/I aCa/aTa rs141593520 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 tolerated(0.19) probably_damaging(0.933) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0018 0.0061 0.0014 0.005674 MODERATE 1 SNV 5 PASS TGT . . 0.0004468 0.006078 0.0003574 1.791e-05 9.747e-05 2483504 RBM15-AS1 . GRCh38 chr1 110318758 110318758 + Splice_Region SNP C C T rs369969158 7316-897 BS_00ZND930 C C n.293+7G>A ENST00000449169 71 37 34 44 42 0 RBM15-AS1,splice_region_variant,,ENST00000449169,; T ENSG00000227963 ENST00000449169 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs369969158 1 -1 RBM15-AS1 HGNC HGNC:53636 antisense YES 2/3 LOW 1 SNV 1 PASS GCG . . 110318758 RALGPS2 . GRCh38 chr1 178885108 178885108 + Nonsense_Mutation SNP C C T rs943234484 7316-897 BS_00ZND930 C C c.937C>T p.Arg313Ter p.R313* ENST00000367635 12/20 84 79 5 35 35 0 RALGPS2,stop_gained,p.Arg313Ter,ENST00000367634,NM_001286247.1;RALGPS2,stop_gained,p.Arg313Ter,ENST00000367635,NM_152663.4;RALGPS2,stop_gained,p.Arg51Ter,ENST00000415888,;RALGPS2,downstream_gene_variant,,ENST00000324778,;RALGPS2,upstream_gene_variant,,ENST00000367632,;RALGPS2,non_coding_transcript_exon_variant,,ENST00000477383,;RALGPS2,upstream_gene_variant,,ENST00000480743,; T ENSG00000116191 ENST00000367635 Transcript stop_gained 1275/5834 937/1752 313/583 R/* Cga/Tga rs943234484,COSM4025540 1 1 RALGPS2 HGNC HGNC:30279 protein_coding YES CCDS1325.1 ENSP00000356607 Q86X27 UPI000000DBE1 NM_152663.4 12/20 mobidb-lite,hmmpanther:PTHR23113:SF180,hmmpanther:PTHR23113 0,1 HIGH 1 SNV 1 0,1 PASS ACG . . 178885108 EOMES . GRCh38 chr3 27718590 27718590 + Missense_Mutation SNP T T C 7316-897 BS_00ZND930 T T c.1376A>G p.Asp459Gly p.D459G ENST00000449599 5/6 77 62 15 57 57 0 EOMES,missense_variant,p.Asp459Gly,ENST00000295743,NM_005442.3;EOMES,missense_variant,p.Asp459Gly,ENST00000449599,NM_001278182.1;EOMES,missense_variant,p.Asp164Gly,ENST00000461503,NM_001278183.1;LINC02084,downstream_gene_variant,,ENST00000606069,; C ENSG00000163508 ENST00000449599 Transcript missense_variant 1394/2829 1376/2118 459/705 D/G gAt/gGt COSM4815824,COSM1485080 1 -1 EOMES HGNC HGNC:3372 protein_coding YES CCDS63585.1 ENSP00000388620 O95936 UPI00004DEF82 NM_001278182.1 deleterious(0) probably_damaging(0.999) 5/6 Gene3D:2.60.40.820,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF13,SMART_domains:SM00425,Superfamily_domains:SSF49417,cd00182 1,1 MODERATE 1 SNV 1 1,1 1 PASS ATC . . 27718590 ZKSCAN7 . GRCh38 chr3 44569991 44569991 + Missense_Mutation SNP C C A novel 7316-897 BS_00ZND930 C C c.881C>A p.Ser294Tyr p.S294Y ENST00000273320 6/6 78 73 5 42 41 0 ZKSCAN7,missense_variant,p.Ser294Tyr,ENST00000273320,NM_001288590.1,NM_018651.3;ZKSCAN7,missense_variant,p.Ser294Tyr,ENST00000426540,;ZKSCAN7,missense_variant,p.Ser143Tyr,ENST00000447279,NM_001288592.1;ZKSCAN7,intron_variant,,ENST00000341840,NM_025169.2;ZKSCAN7,intron_variant,,ENST00000419137,;ZKSCAN7,intron_variant,,ENST00000431636,NM_001288591.1;AC099669.1,intron_variant,,ENST00000457331,;ZKSCAN7,3_prime_UTR_variant,,ENST00000418719,;ZKSCAN7,downstream_gene_variant,,ENST00000496563,; A ENSG00000196345 ENST00000273320 Transcript missense_variant 1310/3477 881/2265 294/754 S/Y tCt/tAt 1 1 ZKSCAN7 HGNC HGNC:12955 protein_coding YES CCDS2715.1 ENSP00000273320 Q9P0L1 UPI000013D9A9 NM_001288590.1,NM_018651.3 tolerated(0.3) benign(0.01) 6/6 PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF682 MODERATE 1 SNV 1 PASS TCT . . 44569991 SLC6A20 . GRCh38 chr3 45758990 45758990 + Missense_Mutation SNP G G C novel 7316-897 BS_00ZND930 G G c.1767C>G p.Asp589Glu p.D589E ENST00000358525 11/11 89 78 11 40 38 1 SLC6A20,missense_variant,p.Asp589Glu,ENST00000358525,NM_020208.3;SLC6A20,missense_variant,p.Asp552Glu,ENST00000353278,NM_022405.3;SLC6A20,intron_variant,,ENST00000456124,;SLC6A20,downstream_gene_variant,,ENST00000493980,;SLC6A20,non_coding_transcript_exon_variant,,ENST00000473146,; C ENSG00000163817 ENST00000358525 Transcript missense_variant 1883/5423 1767/1779 589/592 D/E gaC/gaG 1 -1 SLC6A20 HGNC HGNC:30927 protein_coding YES CCDS43077.1 ENSP00000346298 Q9NP91 UPI0000046064 NM_020208.3 tolerated(0.76) benign(0) 11/11 MODERATE 1 SNV 1 1 PASS GGT . . 45758990 DIRC2 . GRCh38 chr3 122826877 122826877 + Missense_Mutation SNP C C T rs372238855 7316-897 BS_00ZND930 C C c.515C>T p.Thr172Met p.T172M ENST00000261038 3/9 100 48 51 30 30 0 DIRC2,missense_variant,p.Thr172Met,ENST00000261038,NM_032839.2;DIRC2,3_prime_UTR_variant,,ENST00000477647,; T ENSG00000138463 ENST00000261038 Transcript missense_variant 913/3596 515/1437 172/478 T/M aCg/aTg rs372238855 1 1 DIRC2 HGNC HGNC:16628 protein_coding YES CCDS3018.1 ENSP00000261038 Q96SL1 UPI0000073CC7 NM_032839.2 deleterious(0.02) benign(0.226) 3/9 Transmembrane_helices:TMhelix,cd06174,hmmpanther:PTHR10924:SF27,hmmpanther:PTHR10924,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473 0.0001163 MODERATE 1 SNV 1 1 PASS ACG . . 1.626e-05 5.963e-05 5.798e-05 8.966e-06 122826877 MUC4 . GRCh38 chr3 195780332 195780332 + Missense_Mutation SNP T T G rs199740120 7316-897 BS_00ZND930 T T c.11248A>C p.Thr3750Pro p.T3750P ENST00000463781 2/25 51 34 7 23 15 0 MUC4,missense_variant,p.Thr3750Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr3750Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr3750Pro,ENST00000478156,;MUC4,missense_variant,p.Thr3750Pro,ENST00000466475,;MUC4,missense_variant,p.Thr3750Pro,ENST00000477756,;MUC4,missense_variant,p.Thr3750Pro,ENST00000477086,;MUC4,missense_variant,p.Thr3750Pro,ENST00000480843,;MUC4,missense_variant,p.Thr3750Pro,ENST00000462323,;MUC4,missense_variant,p.Thr3750Pro,ENST00000470451,;MUC4,missense_variant,p.Thr3750Pro,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 11708/17110 11248/16239 3750/5412 T/P Act/Cct rs199740120,COSM4157606 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.32) possibly_damaging(0.517) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0.0092 0.0159 0.0115 0.003 0.0109 0.0031 0,1 MODERATE 1 SNV 5 0,1 1 PASS GTG . . 0.0003691 0.002148 0.0003896 0.000127 0.0001095 0.0004002 0.0002859 0.0003388 195780332 MUC17 . GRCh38 chr7 101032965 101032965 + Missense_Mutation SNP T T C rs751516957 7316-897 BS_00ZND930 T T c.1549T>C p.Ser517Pro p.S517P ENST00000306151 3/13 100 78 14 28 27 0 MUC17,missense_variant,p.Ser517Pro,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser517Pro,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 1613/14247 1549/13482 517/4493 S/P Tct/Cct rs751516957,COSM6197058 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS GTC . . 101032965 MUC17 . GRCh38 chr7 101035507 101035507 + Missense_Mutation SNP A A C rs751581004 7316-897 BS_00ZND930 A A c.4091A>C p.Asn1364Thr p.N1364T ENST00000306151 3/13 102 86 11 37 34 0 MUC17,missense_variant,p.Asn1364Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn1364Thr,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 4155/14247 4091/13482 1364/4493 N/T aAc/aCc rs751581004,COSM6233015 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 1.674e-05 2.728e-05 3.451e-05 101035507 RP1L1 . GRCh38 chr8 10608195 10608195 + Missense_Mutation SNP T T C rs539558875 7316-897 BS_00ZND930 T T c.5903A>G p.Glu1968Gly p.E1968G ENST00000382483 4/4 80 63 10 31 29 0 RP1L1,missense_variant,p.Glu1968Gly,ENST00000382483,NM_178857.5; C ENSG00000183638 ENST00000382483 Transcript missense_variant 6127/7973 5903/7203 1968/2400 E/G gAg/gGg rs539558875,COSM4988163 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(0.19) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 0.0226 0.084 0.0029 0,1 MODERATE 1 SNV 1 0,1 1 PASS CTC . . 10608195 RP1 . GRCh38 chr8 54629648 54629648 + Frame_Shift_Del DEL T T - novel 7316-897 BS_00ZND930 T T c.5766del p.Val1923LeufsTer6 p.V1923Lfs*6 ENST00000220676 4/4 84 58 20 42 42 0 RP1,frameshift_variant,p.Val1923LeufsTer6,ENST00000220676,NM_006269.1;RP1,intron_variant,,ENST00000636932,;RP1,intron_variant,,ENST00000637698,;,regulatory_region_variant,,ENSR00000224681,; - ENSG00000104237 ENST00000220676 Transcript frameshift_variant 5914/7100 5766/6471 1922/2156 T/X acT/ac 1 1 RP1 HGNC HGNC:10263 protein_coding YES CCDS6160.1 ENSP00000220676 P56715 UPI000013455B NM_006269.1 4/4 hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF4 HIGH 1 deletion 1 1 PASS ACTG . . 54629647 ERCC6 . GRCh38 chr10 49472478 49472479 + Splice_Region DEL AG AG - rs759974249 7316-897 BS_00ZND930 AG AG c.2830-9_2830-8del ENST00000355832 84 74 5 34 30 0 ERCC6,splice_region_variant,,ENST00000355832,NM_000124.3;AL138760.1,intron_variant,,ENST00000423283,;ERCC6,splice_region_variant,,ENST00000623115,;ERCC6,upstream_gene_variant,,ENST00000465653,;ERCC6,splice_region_variant,,ENST00000623073,;ERCC6,splice_region_variant,,ENST00000624341,; - ENSG00000225830 ENST00000355832 Transcript splice_region_variant,intron_variant rs759974249 1 -1 ERCC6 HGNC HGNC:3438 protein_coding YES CCDS7229.1 ENSP00000348089 Q03468 UPI000000D8DA NM_000124.3 15/20 LOW 1 deletion 1 1 PASS ACAGA . . 0.0001926 0.0001033 0.001412 0.0001384 0.0001861 49472477 KNDC1 . GRCh38 chr10 133207132 133207132 + Splice_Region SNP G G A rs898687414 7316-897 BS_00ZND930 G G c.3580-5G>A ENST00000304613 79 44 35 46 45 0 KNDC1,splice_region_variant,,ENST00000304613,NM_152643.6;KNDC1,3_prime_UTR_variant,,ENST00000368571,;,regulatory_region_variant,,ENSR00000035515,; A ENSG00000171798 ENST00000304613 Transcript splice_region_variant,intron_variant rs898687414 1 1 KNDC1 HGNC HGNC:29374 protein_coding YES CCDS7674.1 ENSP00000304437 Q76NI1 UPI00003529F7 NM_152643.6 19/29 LOW 1 SNV 1 PASS CGG . . 5.856e-05 9.206e-05 0.0001117 0.0002297 3.727e-05 0.0002251 133207132 KRTAP5-3 . GRCh38 chr11 1608168 1608168 + Missense_Mutation SNP C C G rs7125831 7316-897 BS_00ZND930 C C c.218G>C p.Cys73Ser p.C73S ENST00000399685 1/1 49 34 11 30 27 1 KRTAP5-3,missense_variant,p.Cys73Ser,ENST00000399685,NM_001012708.2; G ENSG00000196224 ENST00000399685 Transcript missense_variant 296/899 218/717 73/238 C/S tGc/tCc rs7125831 1 -1 KRTAP5-3 HGNC HGNC:23598 protein_coding YES CCDS41591.1 ENSP00000382592 Q6L8H2 UPI000037605E NM_001012708.2 tolerated(0.18) benign(0.005) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF134,Low_complexity_(Seg):seg MODERATE 1 SNV PASS GCA . . 4.083e-06 5.8e-05 1608168 CDK8 . GRCh38 chr13 26254744 26254744 + Missense_Mutation SNP G G A 7316-897 BS_00ZND930 G G c.103G>A p.Val35Ile p.V35I ENST00000381527 1/13 93 81 11 43 43 0 CDK8,missense_variant,p.Val35Ile,ENST00000381527,NM_001260.2,NM_001318368.1;CDK8,missense_variant,p.Val35Ile,ENST00000536792,NM_001346501.1;,regulatory_region_variant,,ENSR00000060212,; A ENSG00000132964 ENST00000381527 Transcript missense_variant 606/3055 103/1395 35/464 V/I Gtc/Atc COSM6972887 1 1 CDK8 HGNC HGNC:1779 protein_coding YES CCDS9317.1 ENSP00000370938 P49336 UPI000002E531 NM_001260.2,NM_001318368.1 deleterious(0) probably_damaging(0.945) 1/13 Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF243,SMART_domains:SM00220,Superfamily_domains:SSF56112,cd07868 1 MODERATE 1 SNV 1 1 PASS CGT . . 26254744 STOML3 . GRCh38 chr13 38976588 38976588 + Missense_Mutation SNP C C T rs772302903 7316-897 BS_00ZND930 C C c.181G>A p.Val61Ile p.V61I ENST00000379631 3/7 92 57 34 40 40 0 STOML3,missense_variant,p.Val61Ile,ENST00000379631,NM_145286.2;STOML3,missense_variant,p.Val52Ile,ENST00000423210,NM_001144033.1; T ENSG00000133115 ENST00000379631 Transcript missense_variant 526/2121 181/876 61/291 V/I Gtt/Att rs772302903 1 -1 STOML3 HGNC HGNC:19420 protein_coding YES CCDS9367.1 ENSP00000368952 Q8TAV4 UPI000003615B NM_145286.2 tolerated(0.3) possibly_damaging(0.576) 3/7 hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF49,Pfam_domain:PF01145,SMART_domains:SM00244,Prints_domain:PR00721 MODERATE 1 SNV 1 PASS ACA . . 8.122e-06 6.497e-05 38976588 TSC22D1 . GRCh38 chr13 44574570 44574572 + In_Frame_Del DEL TGC TGC - rs749160984 7316-897 BS_00ZND930 TGC TGC c.1503_1505del p.Gln509del p.Q509del ENST00000458659 1/3 73 57 6 34 30 0 TSC22D1,inframe_deletion,p.Gln509del,ENST00000458659,NM_183422.3;TSC22D1,inframe_deletion,p.Gln509del,ENST00000501704,NM_001243799.1;TSC22D1,downstream_gene_variant,,ENST00000493016,;TSC22D1-AS1,upstream_gene_variant,,ENST00000616360,;TSC22D1-AS1,upstream_gene_variant,,ENST00000617014,;TSC22D1,upstream_gene_variant,,ENST00000460842,;TSC22D1,upstream_gene_variant,,ENST00000486464,; - ENSG00000102804 ENST00000458659 Transcript inframe_deletion 1994-1996/4820 1503-1505/3222 501-502/1073 QQ/Q caGCAa/caa rs749160984,TMP_ESP_13_45148706_45148711,COSM1477235 1 -1 TSC22D1 HGNC HGNC:16826 protein_coding YES CCDS31966.1 ENSP00000397435 Q15714 UPI0000D61A6B NM_183422.3 1/3 Low_complexity_(Seg):seg,hmmpanther:PTHR12348:SF21,hmmpanther:PTHR12348,Gene3D:4.10.280.10 0.06707 0.02992 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS GTTGCT . . 0.0002466 0.0002022 0.0003092 0.0001071 0.0001191 0.0001902 0.000263 0.0003808 0.0002747 44574569 GOLGA6L2 . GRCh38 chr15 23440966 23440966 + Missense_Mutation SNP C C G rs68177477 7316-897 BS_00ZND930 C C c.1509G>C p.Gln503His p.Q503H ENST00000567107 8/8 75 50 12 49 34 0 GOLGA6L2,missense_variant,p.Gln503His,ENST00000567107,NM_001304388.1;GOLGA6L2,missense_variant,p.Gln230His,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; G ENSG00000174450 ENST00000567107 Transcript missense_variant 1562/3030 1509/2730 503/909 Q/H caG/caC rs68177477,COSM4591146,COSM4591145,COSM4591144 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 tolerated_low_confidence(0.39) benign(0) 8/8 Low_complexity_(Seg):seg,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21 0.0006 0.0014 0.002 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS CCT . . 0.0001954 0.0002704 0.001154 23440966 ZNF267 . GRCh38 chr16 31916322 31916322 + Missense_Mutation SNP T T A rs878881137 7316-897 BS_00ZND930 T T c.2073T>A p.Asp691Glu p.D691E ENST00000300870 4/4 77 63 8 27 27 0 ZNF267,missense_variant,p.Asp691Glu,ENST00000300870,NM_003414.5;ZNF267,downstream_gene_variant,,ENST00000394846,;ZNF267,downstream_gene_variant,,ENST00000562971,NM_001265588.1;ZNF267,non_coding_transcript_exon_variant,,ENST00000575471,;ZNF267,downstream_gene_variant,,ENST00000561814,;ZNF267,downstream_gene_variant,,ENST00000566541,; A ENSG00000185947 ENST00000300870 Transcript missense_variant 2282/3317 2073/2232 691/743 D/E gaT/gaA rs878881137,COSM6279527 1 1 ZNF267 HGNC HGNC:13060 protein_coding YES CCDS32440.1 ENSP00000300870 Q14586 UPI000045696F NM_003414.5 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF88,PROSITE_patterns:PS00028,Gene3D:2.30.30.380,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 31916322 DNAJA2 . GRCh38 chr16 46959100 46959106 + Frame_Shift_Del DEL ATCCCTT ATCCCTT - rs1441115280 7316-897 BS_00ZND930 ATCCCTT ATCCCTT c.944_950del p.Glu315GlyfsTer15 p.E315Gfs*15 ENST00000317089 8/9 68 60 5 42 40 0 DNAJA2,frameshift_variant,p.Glu315GlyfsTer15,ENST00000317089,NM_005880.3;DNAJA2,3_prime_UTR_variant,,ENST00000563158,;DNAJA2,non_coding_transcript_exon_variant,,ENST00000569553,; - ENSG00000069345 ENST00000317089 Transcript frameshift_variant 1160-1166/3122 944-950/1239 315-317/412 EGM/X gAAGGGATg/gg rs1441115280 1 -1 DNAJA2 HGNC HGNC:14884 protein_coding YES CCDS10726.1 ENSP00000314030 O60884 A0A024R6S1 UPI0000052A4E NM_005880.3 8/9 cd10747,Gene3D:2.60.260.20,Pfam_domain:PF01556,Superfamily_domains:SSF49493,HAMAP:MF_01152,hmmpanther:PTHR43888 HIGH 1 deletion 1 PASS GCATCCCTTC . . 46959099 MYO1D . GRCh38 chr17 32721050 32721050 + Missense_Mutation SNP C C T rs1262527589 7316-897 BS_00ZND930 C C c.1886G>A p.Arg629His p.R629H ENST00000318217 15/22 127 113 12 39 39 0 MYO1D,missense_variant,p.Arg629His,ENST00000318217,NM_015194.2;MYO1D,missense_variant,p.Arg541His,ENST00000394649,;MYO1D,missense_variant,p.Arg629His,ENST00000579584,NM_001303279.1;MYO1D,non_coding_transcript_exon_variant,,ENST00000585094,;MYO1D,downstream_gene_variant,,ENST00000577252,;MYO1D,downstream_gene_variant,,ENST00000580538,; T ENSG00000176658 ENST00000318217 Transcript missense_variant 2191/5563 1886/3021 629/1006 R/H cGc/cAc rs1262527589,COSM6720233 1 -1 MYO1D HGNC HGNC:7598 protein_coding YES CCDS32615.1 ENSP00000324527 O94832 UPI0000186004 NM_015194.2 deleterious(0) probably_damaging(1) 15/22 Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF417,SMART_domains:SM00242,Superfamily_domains:SSF52540,cd01378 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 4.066e-06 2.979e-05 32721050 GALNT1 . GRCh38 chr18 35692327 35692328 + Splice_Region INS - - AT rs143443382 7316-897 BS_00ZND930 - - c.1299+22_1299+23dup ENST00000269195 66 50 6 31 24 0 GALNT1,splice_region_variant,,ENST00000269195,NM_020474.3;GALNT1,splice_region_variant,,ENST00000590654,;GALNT1,intron_variant,,ENST00000589189,; AT ENSG00000141429 ENST00000269195 Transcript splice_region_variant,intron_variant rs143443382 1 1 GALNT1 HGNC HGNC:4123 protein_coding YES CCDS11915.1 ENSP00000269195 Q10472 A0A024RC48 UPI00001311FC NM_020474.3 8/10 LOW 1 insertion 1 16 PASS AAA . . 0.001337 0.001348 0.001606 0.00216 0.0002012 0.001716 0.001257 0.0003671 0.0018 35692327 ZNF57 . GRCh38 chr19 2917809 2917809 + Missense_Mutation SNP A A C rs541994633 7316-897 BS_00ZND930 A A c.1188A>C p.Gln396His p.Q396H ENST00000306908 4/4 76 51 21 27 26 1 ZNF57,missense_variant,p.Gln396His,ENST00000306908,NM_173480.2;ZNF57,missense_variant,p.Gln398His,ENST00000614108,;ZNF57,missense_variant,p.Gln364His,ENST00000523428,NM_001319083.1;ZNF57,downstream_gene_variant,,ENST00000522294,;ZNF57,downstream_gene_variant,,ENST00000590305,;AC119403.1,intron_variant,,ENST00000520090,; C ENSG00000171970 ENST00000306908 Transcript missense_variant 1336/2003 1188/1668 396/555 Q/H caA/caC rs541994633,COSM5625497 1 1 ZNF57 HGNC HGNC:13125 protein_coding YES CCDS12098.1 ENSP00000303696 Q68EA5 A5HJR3 UPI000006FE5C NM_173480.2 tolerated(0.11) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF9,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0002 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS AAT . . 3.269e-05 2.689e-05 0.0001639 2917809 COL5A3 . GRCh38 chr19 9968457 9968458 + Frame_Shift_Ins INS - - G rs769575027 7316-897 BS_00ZND930 - - c.4241dup p.Glu1416ArgfsTer4 p.E1416Rfs*4 ENST00000264828 59/67 75 56 8 27 26 0 COL5A3,frameshift_variant,p.Glu1416ArgfsTer4,ENST00000264828,NM_015719.3;COL5A3,non_coding_transcript_exon_variant,,ENST00000461214,; G ENSG00000080573 ENST00000264828 Transcript frameshift_variant 4327-4328/6174 4241-4242/5238 1414/1745 P/PX ccg/ccCg rs769575027 1 -1 COL5A3 HGNC HGNC:14864 protein_coding YES CCDS12222.1 ENSP00000264828 P25940 UPI00002032A3 NM_015719.3 59/67 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF567,Gene3D:2.160.20.50 HIGH 1 insertion 1 PASS CCG . . 9.18e-06 6.535e-05 9.743e-06 9968457 ZNF700 . GRCh38 chr19 11949763 11949763 + Missense_Mutation SNP G G A rs750061022 7316-897 BS_00ZND930 G G c.1748G>A p.Arg583Gln p.R583Q ENST00000622593 4/4 72 50 10 22 21 0 ZNF700,missense_variant,p.Arg562Gln,ENST00000482090,;ZNF700,missense_variant,p.Arg583Gln,ENST00000622593,NM_001271848.1;ZNF700,missense_variant,p.Arg580Gln,ENST00000254321,NM_144566.2;AC008770.2,intron_variant,,ENST00000590798,;AC008770.2,intron_variant,,ENST00000591944,;AC008770.3,intron_variant,,ENST00000586394,;AC008770.2,intron_variant,,ENST00000591441,;AC008770.2,upstream_gene_variant,,ENST00000586354,; A ENSG00000196757 ENST00000622593 Transcript missense_variant 1891/2901 1748/2238 583/745 R/Q cGa/cAa rs750061022,COSM4744768 1 1 ZNF700 HGNC HGNC:25292 protein_coding YES CCDS74289.1 ENSP00000479449 A0A087WVH9 UPI0002A097BD NM_001271848.1 tolerated(0.58) benign(0.006) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.40.155.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE SNV 4 0,1 PASS CGA . . 1.223e-05 2.689e-05 11949763 ZNF90 . GRCh38 chr19 20118734 20118734 + Missense_Mutation SNP A A G rs1289039444 7316-897 BS_00ZND930 A A c.1180A>G p.Lys394Glu p.K394E ENST00000418063 4/4 91 77 9 45 45 0 ZNF90,missense_variant,p.Lys394Glu,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; G ENSG00000213988 ENST00000418063 Transcript missense_variant 1292/2310 1180/1806 394/601 K/E Aag/Gag rs1289039444,COSM6304493 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS AAA . . 4.261e-06 9.44e-06 20118734 ZNF99 . GRCh38 chr19 22758729 22758729 + Missense_Mutation SNP G G C rs565513507 7316-897 BS_00ZND930 G G c.1180C>G p.Gln394Glu p.Q394E ENST00000596209 4/4 92 77 10 28 28 0 ZNF99,missense_variant,p.Gln394Glu,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Gln303Glu,ENST00000397104,; C ENSG00000213973 ENST00000596209 Transcript missense_variant 1271/7817 1180/2595 394/864 Q/E Cag/Gag rs565513507,COSM5956473,COSM1480867 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 tolerated(1) benign(0) 4/4 Gene3D:2.40.155.10,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,Superfamily_domains:SSF57667 0.0004 0.0008 0.001 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TGT . . 4.082e-05 0.0001314 8.943e-05 0.0001832 0.0001301 22758729 ZNF723 . GRCh38 chr19 22858237 22858237 + Missense_Mutation SNP A A G rs1035958051 7316-897 BS_00ZND930 A A c.1346A>G p.Lys449Arg p.K449R ENST00000600766 4/4 66 55 9 21 20 0 ZNF723,missense_variant,p.Lys449Arg,ENST00000600766,NM_001349726.1;VN1R88P,upstream_gene_variant,,ENST00000596787,; G ENSG00000268696 ENST00000600766 Transcript missense_variant 1405/1835 1346/1542 449/513 K/R aAa/aGa rs1035958051 1 1 ZNF723 HGNC HGNC:32286 protein_coding YES ENSP00000494306 P0DPD5 UPI0009ACDB03 NM_001349726.1 tolerated(0.07) benign(0.005) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 MODERATE 1 SNV PASS AAA . . 22858237 HKR1 . GRCh38 chr19 37363306 37363306 + Missense_Mutation SNP G G A rs201964801 7316-897 BS_00ZND930 G G c.1511G>A p.Arg504Gln p.R504Q ENST00000324411 6/6 100 92 6 26 25 0 HKR1,missense_variant,p.Arg231Gln,ENST00000591471,;HKR1,missense_variant,p.Arg504Gln,ENST00000324411,NM_181786.2;HKR1,missense_variant,p.Arg231Gln,ENST00000544914,;HKR1,missense_variant,p.Arg485Gln,ENST00000392153,NM_001329762.1,NM_001329761.1,NM_001329764.1,NM_001353803.1;HKR1,missense_variant,p.Arg443Gln,ENST00000541583,NM_001329772.1,NM_001329777.1;HKR1,missense_variant,p.Arg486Gln,ENST00000589392,;HKR1,intron_variant,,ENST00000591134,;HKR1,downstream_gene_variant,,ENST00000585623,;HKR1,downstream_gene_variant,,ENST00000586897,;HKR1,downstream_gene_variant,,ENST00000591259,;HKR1,downstream_gene_variant,,ENST00000591391,;HKR1,downstream_gene_variant,,ENST00000591417,;HKR1,downstream_gene_variant,,ENST00000592168,;HKR1,downstream_gene_variant,,ENST00000592768,;HKR1,non_coding_transcript_exon_variant,,ENST00000588820,;HKR1,downstream_gene_variant,,ENST00000590570,; A ENSG00000181666 ENST00000324411 Transcript missense_variant 1780/2929 1511/1980 504/659 R/Q cGa/cAa rs201964801,COSM336565 1 1 HKR1 HGNC HGNC:4928 protein_coding YES CCDS12502.1 ENSP00000315505 P10072 UPI00001AE470 NM_181786.2 tolerated(0.13) possibly_damaging(0.487) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF129,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0002 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 1.625e-05 5.798e-05 1.792e-05 3.25e-05 37363306 PPP1R15A . GRCh38 chr19 48874536 48874536 + Missense_Mutation SNP C C T rs144400267 7316-897 BS_00ZND930 C C c.1303C>T p.Arg435Trp p.R435W ENST00000200453 2/3 82 73 8 33 32 0 PPP1R15A,missense_variant,p.Arg435Trp,ENST00000200453,NM_014330.3;PPP1R15A,missense_variant,p.Arg74Trp,ENST00000600406,;,regulatory_region_variant,,ENSR00000110793,; T ENSG00000087074 ENST00000200453 Transcript missense_variant 1572/2378 1303/2025 435/674 R/W Cgg/Tgg rs144400267 1 1 PPP1R15A HGNC HGNC:14375 protein_coding YES CCDS12738.1 ENSP00000200453 O75807 UPI000006F652 NM_014330.3 deleterious(0.01) benign(0.017) 2/3 mobidb-lite,hmmpanther:PTHR16489,hmmpanther:PTHR16489:SF14 MODERATE 1 SNV 1 PASS TCG . . 4.063e-06 2.98e-05 48874536 ZNF845 . GRCh38 chr19 53353478 53353478 + Missense_Mutation SNP A A G novel 7316-897 BS_00ZND930 A A c.2803A>G p.Thr935Ala p.T935A ENST00000458035 4/4 79 65 7 40 39 0 ZNF845,missense_variant,p.Thr935Ala,ENST00000458035,NM_138374.2;ZNF845,missense_variant,p.Thr935Ala,ENST00000595091,NM_001321524.1,NM_001321523.1,NM_001321522.1; G ENSG00000213799 ENST00000458035 Transcript missense_variant 2923/6351 2803/2913 935/970 T/A Aca/Gca 1 1 ZNF845 HGNC HGNC:25112 protein_coding YES CCDS46170.1 ENSP00000388311 Q96IR2 UPI0001662BAC NM_138374.2 tolerated(0.26) benign(0.003) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF74,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS GAC . . 53353478 ZNF749 . GRCh38 chr19 57444517 57444517 + Missense_Mutation SNP C C G rs763157116 7316-897 BS_00ZND930 C C c.1369C>G p.Gln457Glu p.Q457E ENST00000334181 3/3 85 68 15 42 40 1 ZNF749,missense_variant,p.Gln457Glu,ENST00000334181,NM_001321952.1,NM_001023561.3;AC004076.1,intron_variant,,ENST00000596831,;ZNF749,downstream_gene_variant,,ENST00000415248,NM_001321954.1; G ENSG00000186230 ENST00000334181 Transcript missense_variant 1619/2587 1369/2337 457/778 Q/E Cag/Gag rs763157116,COSM349680,COSM349679 1 1 ZNF749 HGNC HGNC:32783 protein_coding YES CCDS33132.2 ENSP00000333980 O43361 UPI0000237933 NM_001321952.1,NM_001023561.3 deleterious(0.03) benign(0) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CCA . . 8.129e-06 6.507e-05 57444517 PCNT . GRCh38 chr21 46334649 46334649 + Missense_Mutation SNP A A G rs61735822 7316-897 BS_00ZND930 A A c.520A>G p.Ile174Val p.I174V ENST00000359568 3/47 97 72 19 40 37 1 PCNT,missense_variant,p.Ile174Val,ENST00000359568,NM_001315529.1,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,non_coding_transcript_exon_variant,,ENST00000490468,; G ENSG00000160299 ENST00000359568 Transcript missense_variant 627/10560 520/10011 174/3336 I/V Atc/Gtc rs61735822,COSM3758992 1 1 PCNT HGNC HGNC:16068 protein_coding YES CCDS33592.1 ENSP00000352572 O95613 UPI00001AEB88 NM_001315529.1,NM_006031.5 tolerated_low_confidence(1) benign(0) 3/47 0.0252 0.0272 0.0418 0.0408 0.0204 0.02474 0.0557 benign,likely_benign 0,1 18414213 MODERATE 1 SNV 1 1,1 1 PASS AAT . . 0.03213 0.01933 0.02568 0.1019 0.000174 0.006972 0.04384 0.04378 0.01556 46334649 FRMPD3 . GRCh38 chrX 107545839 107545839 + Missense_Mutation SNP G T T novel 7316-897 BS_00ZND930 G G c.499G>T p.Ala167Ser p.A167S ENST00000276185 6/16 42 9 33 21 21 0 FRMPD3,missense_variant,p.Ala167Ser,ENST00000276185,NM_032428.1;FRMPD3,missense_variant,p.Ala115Ser,ENST00000439554,;FRMPD3-AS1,upstream_gene_variant,,ENST00000415252,;FRMPD3,splice_region_variant,,ENST00000477796,; T ENSG00000147234 ENST00000276185 Transcript missense_variant,splice_region_variant 499/7304 499/5433 167/1810 A/S Gca/Tca 1 1 FRMPD3 HGNC HGNC:29382 protein_coding YES CCDS76006.1 ENSP00000276185 Q5JV73 UPI00006C1C33 NM_032428.1 tolerated(0.7) benign(0.007) 6/16 hmmpanther:PTHR45533 MODERATE SNV 5 PASS TGC . . 107545839 RBMXL3 . GRCh38 chrX 115192284 115192284 + Missense_Mutation SNP G G A rs782436881 7316-897 BS_00ZND930 G G c.2843G>A p.Arg948His p.R948H ENST00000424776 1/1 40 31 6 17 16 0 RBMXL3,missense_variant,p.Arg948His,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343013,; A ENSG00000175718 ENST00000424776 Transcript missense_variant 2858/3442 2843/3204 948/1067 R/H cGc/cAc rs782436881 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.91) benign(0.065) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 MODERATE SNV PASS CGC . . 7.336e-05 0.0001444 0.0003483 7.074e-05 115192284 MT-ND1 . GRCh38 chrM 3811 3811 + Nonsense_Mutation SNP C C T novel 7316-897 BS_00ZND930 C C c.505C>T p.Gln169Ter p.Q169* ENST00000361390 1/1 12308 11590 575 3726 3681 1 MT-ND1,stop_gained,p.Gln169Ter,ENST00000361390,;MT-ND2,upstream_gene_variant,,ENST00000361453,;MT-CO1,upstream_gene_variant,,ENST00000361624,;MT-CO2,upstream_gene_variant,,ENST00000361739,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-TF,downstream_gene_variant,,ENST00000387314,;MT-TV,downstream_gene_variant,,ENST00000387342,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,upstream_gene_variant,,ENST00000387365,;MT-TQ,downstream_gene_variant,,ENST00000387372,;MT-TM,upstream_gene_variant,,ENST00000387377,;MT-TW,upstream_gene_variant,,ENST00000387382,;MT-TA,downstream_gene_variant,,ENST00000387392,;MT-TN,downstream_gene_variant,,ENST00000387400,;MT-TC,downstream_gene_variant,,ENST00000387405,;MT-TY,downstream_gene_variant,,ENST00000387409,;MT-TS1,downstream_gene_variant,,ENST00000387416,;MT-TD,upstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-RNR1,downstream_gene_variant,,ENST00000389680,; T ENSG00000198888 ENST00000361390 Transcript stop_gained 505/956 505/956 169/318 Q/* Caa/Taa 1 1 MT-ND1 HGNC HGNC:7455 protein_coding YES ENSP00000354687 P03886 U5Z754 UPI0000000AA1 1/1 PDB-ENSP_mappings:5xtc.s,PDB-ENSP_mappings:5xtd.s,HAMAP:MF_01350,hmmpanther:PTHR11432:SF3,hmmpanther:PTHR11432,Pfam_domain:PF00146 HIGH 1 SNV 1 PASS ACA . . 3811 MT-ND5 . GRCh38 chrM 12566 12566 + Missense_Mutation SNP C C T novel 7316-897 BS_00ZND930 C C c.230C>T p.Ser77Phe p.S77F ENST00000361567 1/1 14937 9774 5003 4600 4568 2 MT-ND5,missense_variant,p.Ser77Phe,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339370,; T ENSG00000198786 ENST00000361567 Transcript missense_variant 230/1812 230/1812 77/603 S/F tCc/tTc 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D deleterious_low_confidence(0.05) probably_damaging(0.998) 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF00662,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974 MODERATE 1 SNV 1 PASS TCC . . 12566 MT-CYB . GRCh38 chrM 15723 15723 + Nonsense_Mutation SNP G G A novel 7316-897 BS_00ZND930 G G c.977G>A p.Trp326Ter p.W326* ENST00000361789 1/1 14005 13201 691 4326 4287 0 MT-CYB,stop_gained,p.Trp326Ter,ENST00000361789,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND5,downstream_gene_variant,,ENST00000361567,;MT-ND6,upstream_gene_variant,,ENST00000361681,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,upstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339372,;,TF_binding_site_variant,,MA0534.1,; A ENSG00000198727 ENST00000361789 Transcript stop_gained 977/1141 977/1141 326/380 W/* tGa/tAa 1 1 MT-CYB HGNC HGNC:7427 protein_coding YES ENSP00000354554 P00156 Q0ZFD6 UPI0000DA7DCA 1/1 PDB-ENSP_mappings:5xte.J,PDB-ENSP_mappings:5xte.V,PDB-ENSP_mappings:5xth.AJ,PDB-ENSP_mappings:5xth.AV,PDB-ENSP_mappings:5xti.AJ,PDB-ENSP_mappings:5xti.AV,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS51003,cd00290,hmmpanther:PTHR19271,Pfam_domain:PF00032,Gene3D:1.20.810.10,PIRSF_domain:PIRSF038885,Superfamily_domains:SSF81648 HIGH 1 SNV 1 PASS TGA . . 15723 KIAA2013 . GRCh38 chr1 11926236 11926236 + Translation_Start_Site SNP A A C novel 7316-3303 BS_0KKH9VKP A A c.2T>G p.Met1? p.M1? ENST00000376572 1/3 48 37 9 33 33 0 KIAA2013,start_lost,p.Met1?,ENST00000376572,NM_138346.2;KIAA2013,start_lost,p.Met1?,ENST00000376576,;KIAA2013,start_lost,p.Met1?,ENST00000616327,;,regulatory_region_variant,,ENSR00000001461,; C ENSG00000116685 ENST00000376572 Transcript start_lost 188/2815 2/1905 1/634 M/R aTg/aGg 1 -1 KIAA2013 HGNC HGNC:28513 protein_coding YES CCDS141.1 ENSP00000365756 Q8IYS2 UPI00000741FB NM_138346.2 deleterious(0) probably_damaging(0.962) 1/3 hmmpanther:PTHR31386 HIGH 1 SNV 1 PASS CAT . . 11926236 AL591178.1 . GRCh38 chr1 24042276 24042276 + Splice_Site SNP G G T rs1416420291 7316-3303 BS_0KKH9VKP G G n.109-1G>T ENST00000439239 63 49 14 32 32 0 AL591178.1,splice_acceptor_variant,,ENST00000439239,; T ENSG00000225315 ENST00000439239 Transcript splice_acceptor_variant,non_coding_transcript_variant rs1416420291 1 1 AL591178.1 Clone_based_ensembl_gene antisense YES 1/3 HIGH 1 SNV 5 PASS AGG . . 24042276 FAM76A . GRCh38 chr1 27726161 27726161 + Splice_Region SNP G G A novel 7316-3303 BS_0KKH9VKP G G c.81G>A p.Lys27= p.K27= ENST00000010299 1/10 71 63 7 33 33 0 FAM76A,splice_region_variant,p.Lys27=,ENST00000373954,NM_152660.2;FAM76A,splice_region_variant,p.Lys27=,ENST00000373949,NM_001143914.1;FAM76A,splice_region_variant,p.Lys27=,ENST00000419687,NM_001143915.1;FAM76A,splice_region_variant,p.Lys27=,ENST00000010299,NM_001143912.1;FAM76A,splice_region_variant,p.Lys27=,ENST00000530324,;FAM76A,splice_region_variant,p.Lys27=,ENST00000234549,NM_001143913.1;,regulatory_region_variant,,ENSR00000003774,; A ENSG00000009780 ENST00000010299 Transcript splice_region_variant,synonymous_variant 105/1050 81/1026 27/341 K aaG/aaA 1 1 FAM76A HGNC HGNC:28530 protein_coding YES CCDS44092.1 ENSP00000010299 Q8TAV0 UPI000006F92A NM_001143912.1 1/10 hmmpanther:PTHR12606:SF36,hmmpanther:PTHR12606,Pfam_domain:PF16046 LOW 1 SNV 1 PASS AGG . . 27726161 DLGAP3 . GRCh38 chr1 34868928 34868928 + Missense_Mutation SNP C C G novel 7316-3303 BS_0KKH9VKP C C c.2162G>C p.Arg721Pro p.R721P ENST00000373347 9/12 71 56 14 25 25 0 DLGAP3,missense_variant,p.Arg721Pro,ENST00000373347,NM_001080418.2;DLGAP3,missense_variant,p.Arg721Pro,ENST00000235180,; G ENSG00000116544 ENST00000373347 Transcript missense_variant 2431/3856 2162/2940 721/979 R/P cGg/cCg 1 -1 DLGAP3 HGNC HGNC:30368 protein_coding YES CCDS30670.1 ENSP00000362444 O95886 UPI00003D4D81 NM_001080418.2 tolerated(0.07) possibly_damaging(0.656) 9/12 Gene3D:3.40.50.1980,Pfam_domain:PF03359,hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF4 MODERATE 1 SNV 5 PASS CCG . . 34868928 CYP4A11 . GRCh38 chr1 46941328 46941348 + In_Frame_Del DEL GAACTGCCTTGATCAGCAGCA GAACTGCCTTGATCAGCAGCA - novel 7316-3303 BS_0KKH9VKP GAACTGCCTTGATCAGCAGCA GAACTGCCTTGATCAGCAGCA c.86_106del p.Leu29_Val35del p.L29_V35del ENST00000310638 1/12 98 80 18 43 43 0 CYP4A11,inframe_deletion,p.Leu29_Val35del,ENST00000310638,NM_001319155.1,NM_000778.3;CYP4A11,inframe_deletion,p.Leu29_Val35del,ENST00000462347,;CYP4A11,inframe_deletion,p.Leu29_Val35del,ENST00000371904,;CYP4A11,inframe_deletion,p.Leu29_Val35del,ENST00000371905,;CYP4A11,inframe_deletion,p.Leu29_Val35del,ENST00000475477,;CYP4A11,inframe_deletion,p.Leu29_Val35del,ENST00000465874,;CYP4A11,inframe_deletion,p.Leu29_Val35del,ENST00000468629,;CYP4A11,inframe_deletion,p.Leu29_Val35del,ENST00000474458,; - ENSG00000187048 ENST00000310638 Transcript inframe_deletion 118-138/2530 86-106/1560 29-36/519 LLLIKAVQ/Q cTGCTGCTGATCAAGGCAGTTCag/cag 1 -1 CYP4A11 HGNC HGNC:2642 protein_coding YES CCDS543.1 ENSP00000311095 Q02928 UPI00001281E4 NM_001319155.1,NM_000778.3 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24291:SF39,hmmpanther:PTHR24291,Gene3D:1.10.630.10 MODERATE 1 deletion 1 PASS CTGAACTGCCTTGATCAGCAGCAG . . 46941327 AKNAD1 . GRCh38 chr1 108837648 108837648 + Missense_Mutation SNP T T C novel 7316-3303 BS_0KKH9VKP T T c.1438A>G p.Met480Val p.M480V ENST00000370001 7/16 62 53 8 24 23 0 AKNAD1,missense_variant,p.Met480Val,ENST00000370001,NM_152763.4;AKNAD1,missense_variant,p.Met480Val,ENST00000369995,;AKNAD1,missense_variant,p.Met480Val,ENST00000369994,;AL449266.1,downstream_gene_variant,,ENST00000357393,;AKNAD1,missense_variant,p.Met480Val,ENST00000474186,;AKNAD1,missense_variant,p.Met480Val,ENST00000461774,;AKNAD1,3_prime_UTR_variant,,ENST00000472781,; C ENSG00000162641 ENST00000370001 Transcript missense_variant 1707/3053 1438/2511 480/836 M/V Atg/Gtg 1 -1 AKNAD1 HGNC HGNC:28398 protein_coding YES CCDS791.2 ENSP00000359018 Q5T1N1 UPI00004700A0 NM_152763.4 tolerated(0.17) benign(0) 7/16 Gene3D:1.20.5.340,hmmpanther:PTHR21510,hmmpanther:PTHR21510:SF16 MODERATE 1 SNV 1 PASS ATT . . 108837648 NBPF19 . GRCh38 chr1 149478990 149478990 + Missense_Mutation SNP T T C novel 7316-3303 BS_0KKH9VKP T T c.389T>C p.Leu130Pro p.L130P ENST00000621744 7/97 53 36 17 29 29 0 NBPF19,missense_variant,p.Leu130Pro,ENST00000621744,NM_001351365.1;NBPF19,missense_variant,p.Leu130Pro,ENST00000612881,;NBPF19,missense_variant,p.Leu61Pro,ENST00000369227,;NBPF19,missense_variant,p.Leu130Pro,ENST00000611931,; C ENSG00000271383 ENST00000621744 Transcript missense_variant 1659/14425 389/11532 130/3843 L/P cTc/cCc 1 1 NBPF19 HGNC HGNC:31999 protein_coding YES ENSP00000478752 A0A087WUL8 UPI000387BE73 NM_001351365.1 deleterious(0) probably_damaging(0.976) 7/97 hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF28 MODERATE 1 SNV 5 PASS CTC . . 149478990 TDRD5 . GRCh38 chr1 179635836 179635836 + Missense_Mutation SNP T T A novel 7316-3303 BS_0KKH9VKP T T c.1469T>A p.Ile490Asn p.I490N ENST00000444136 9/18 54 44 10 22 22 0 TDRD5,missense_variant,p.Ile490Asn,ENST00000444136,NM_001199089.1,NM_001199085.1;TDRD5,missense_variant,p.Ile490Asn,ENST00000367614,NM_001199091.1;TDRD5,missense_variant,p.Ile490Asn,ENST00000294848,NM_173533.3,NM_001349923.1;TDRD5,upstream_gene_variant,,ENST00000417329,NM_001199092.1; A ENSG00000162782 ENST00000444136 Transcript missense_variant 1987/3946 1469/3108 490/1035 I/N aTc/aAc 1 1 TDRD5 HGNC HGNC:20614 protein_coding YES CCDS55663.1 ENSP00000406052 Q8NAT2 UPI000022AC96 NM_001199089.1,NM_001199085.1 deleterious(0) probably_damaging(0.994) 9/18 Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF19 MODERATE 1 SNV 1 PASS ATC . . 179635836 CR1 . GRCh38 chr1 207621975 207621975 + Missense_Mutation SNP A G G rs2296160 7316-3303 BS_0KKH9VKP A A c.7255A>G p.Thr2419Ala p.T2419A ENST00000367049 44/47 60 11 48 21 16 5 CR1,missense_variant,p.Thr1969Ala,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Thr2419Ala,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Thr1969Ala,ENST00000367051,;CR1,missense_variant,p.Thr1969Ala,ENST00000367052,;CR1,missense_variant,p.Thr1969Ala,ENST00000367053,;CR1,missense_variant,p.Thr592Ala,ENST00000529814,; G ENSG00000203710 ENST00000367049 Transcript missense_variant,splice_region_variant 7255/7470 7255/7470 2419/2489 T/A Aca/Gca rs2296160,COSM6310174,COSM6310173 1 1 CR1 HGNC HGNC:2334 protein_coding YES CCDS44308.1 ENSP00000356016 E9PDY4 UPI000040E8CF NM_000651.4 tolerated(0.87) benign(0) 44/47 hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF430 0.8281 0.8162 0.9207 0.6885 0.8221 0.9284 0.8175 0.8168 0,1,1 21347408,25683978,24621201,26000043,23360175,28650998 MODERATE 1 SNV 5 0,1,1 1 PASS TAC . . 0.8199 0.8074 0.9067 0.81 0.6558 0.8031 0.8029 0.8218 0.9012 207621975 SRP9 . GRCh38 chr1 225777950 225777950 + Missense_Mutation SNP T T C rs1184184827 7316-3303 BS_0KKH9VKP T T c.10T>C p.Tyr4His p.Y4H ENST00000304786 1/3 104 46 56 32 31 0 SRP9,missense_variant,p.Tyr4His,ENST00000366839,NM_001130440.1;SRP9,missense_variant,p.Tyr4His,ENST00000304786,NM_003133.5;SRP9,missense_variant,p.Tyr4His,ENST00000366838,;SRP9,missense_variant,p.Tyr4His,ENST00000619790,;SRP9,missense_variant,p.Tyr4His,ENST00000626563,;,regulatory_region_variant,,ENSR00000021017,; C ENSG00000143742 ENST00000304786 Transcript missense_variant 122/1480 10/261 4/86 Y/H Tac/Cac rs1184184827 1 1 SRP9 HGNC HGNC:11304 protein_coding YES CCDS1546.1 ENSP00000305230 P49458 UPI000011E3D2 NM_003133.5 tolerated(0.08) benign(0.319) 1/3 Gene3D:3.30.720.10,Pfam_domain:PF05486,PIRSF_domain:PIRSF017029,hmmpanther:PTHR12834 MODERATE 1 SNV 1 PASS GTA . . 4.064e-06 2.978e-05 225777950 LINC01744 . GRCh38 chr1 232735757 232735757 + Splice_Region SNP A A T rs1006834873 7316-3303 BS_0KKH9VKP A A n.350-7T>A ENST00000457698 109 92 17 22 22 0 LINC01744,splice_region_variant,,ENST00000457698,; T ENSG00000236497 ENST00000457698 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1006834873 1 -1 LINC01744 HGNC HGNC:52532 lincRNA YES 1/3 LOW 1 SNV 2 PASS TAA . . 232735757 RYR2 . GRCh38 chr1 237631455 237631455 + Nonsense_Mutation SNP C C T novel 7316-3303 BS_0KKH9VKP C C c.6469C>T p.Gln2157Ter p.Q2157* ENST00000366574 42/105 56 28 28 27 27 0 RYR2,stop_gained,p.Gln2157Ter,ENST00000366574,NM_001035.2;RYR2,stop_gained,p.Gln2141Ter,ENST00000360064,; T ENSG00000198626 ENST00000366574 Transcript stop_gained 6786/16562 6469/14904 2157/4967 Q/* Cag/Tag 1 1 RYR2 HGNC HGNC:10484 protein_coding YES CCDS55691.1 ENSP00000355533 Q92736 UPI0000DD0308 NM_001035.2 42/105 hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Pfam_domain:PF01365,Gene3D:1.25.10.30 HIGH 1 SNV 1 1 PASS CCA . . 237631455 APOB . GRCh38 chr2 21015463 21015463 + Missense_Mutation SNP C C T rs778822926 7316-3303 BS_0KKH9VKP C C c.3415G>A p.Ala1139Thr p.A1139T ENST00000233242 22/29 77 61 16 27 27 0 APOB,missense_variant,p.Ala1139Thr,ENST00000233242,NM_000384.2; T ENSG00000084674 ENST00000233242 Transcript missense_variant 3543/14121 3415/13692 1139/4563 A/T Gcc/Acc rs778822926,COSM3407548 1 -1 APOB HGNC HGNC:603 protein_coding YES CCDS1703.1 ENSP00000233242 P04114 UPI0004620B75 NM_000384.2 tolerated(0.55) benign(0) 22/29 hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 1.625e-05 2.686e-05 3.249e-05 21015463 CNNM4 . GRCh38 chr2 96808563 96808574 + In_Frame_Del DEL CGTTCCCCAGCA CGTTCCCCAGCA - novel 7316-3303 BS_0KKH9VKP CGTTCCCCAGCA CGTTCCCCAGCA c.1952_1963del p.Arg651_Ala654del p.R651_A654del ENST00000377075 6/7 68 54 13 27 27 0 CNNM4,inframe_deletion,p.Arg651_Ala654del,ENST00000377075,NM_020184.3;CNNM3-DT,downstream_gene_variant,,ENST00000608609,;CNNM4,splice_region_variant,,ENST00000496186,; - ENSG00000158158 ENST00000377075 Transcript inframe_deletion,splice_region_variant 2049-2060/4800 1951-1962/2328 651-654/775 RSPA/- CGTTCCCCAGCA/- 1 1 CNNM4 HGNC HGNC:105 protein_coding YES CCDS2024.2 ENSP00000366275 Q6P4Q7 UPI0000207C95 NM_020184.3 6/7 PROSITE_profiles:PS50042,hmmpanther:PTHR12064:SF26,hmmpanther:PTHR12064,Gene3D:2.60.120.10 MODERATE 1 deletion 1 1 1 PASS ACCGTTCCCCAGCAC . . 96808562 AC093838.1 . GRCh38 chr2 131626163 131626163 + Splice_Region SNP G G A rs1044613689 7316-3303 BS_0KKH9VKP G G n.200+7G>A ENST00000613014 91 72 19 24 24 0 AC093838.1,splice_region_variant,,ENST00000613014,;POTEKP,non_coding_transcript_exon_variant,,ENST00000397487,; A ENSG00000273588 ENST00000613014 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1044613689 1 1 AC093838.1 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/1 LOW 1 SNV PASS CGT . . 131626163 MLPH . GRCh38 chr2 237540388 237540388 + Missense_Mutation SNP A A G novel 7316-3303 BS_0KKH9VKP A A c.1145A>G p.Glu382Gly p.E382G ENST00000264605 10/16 80 54 25 37 36 0 MLPH,missense_variant,p.Glu382Gly,ENST00000264605,NM_024101.6;MLPH,missense_variant,p.Glu354Gly,ENST00000338530,NM_001042467.2;MLPH,missense_variant,p.Glu239Gly,ENST00000410032,NM_001281474.1;MLPH,missense_variant,p.Glu314Gly,ENST00000409373,NM_001281473.1;MLPH,missense_variant,p.Glu142Gly,ENST00000437893,;MLPH,missense_variant,p.Glu70Gly,ENST00000415753,;MLPH,missense_variant,p.Glu103Gly,ENST00000436965,;MLPH,upstream_gene_variant,,ENST00000434770,;MLPH,non_coding_transcript_exon_variant,,ENST00000468178,;MLPH,downstream_gene_variant,,ENST00000485956,;MLPH,non_coding_transcript_exon_variant,,ENST00000495439,;MLPH,non_coding_transcript_exon_variant,,ENST00000464123,;MLPH,non_coding_transcript_exon_variant,,ENST00000478712,;MLPH,non_coding_transcript_exon_variant,,ENST00000494110,;MLPH,upstream_gene_variant,,ENST00000432475,; G ENSG00000115648 ENST00000264605 Transcript missense_variant 1439/3823 1145/1803 382/600 E/G gAg/gGg 1 1 MLPH HGNC HGNC:29643 protein_coding YES CCDS2518.1 ENSP00000264605 Q9BV36 A0A024R492 UPI00000730BF NM_024101.6 deleterious(0) probably_damaging(0.992) 10/16 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14555,hmmpanther:PTHR14555:SF1,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GAG . . 237540388 CNTN6 . GRCh38 chr3 1220791 1220791 + Missense_Mutation SNP G G T rs201450079 7316-3303 BS_0KKH9VKP G G c.160G>T p.Gly54Cys p.G54C ENST00000446702 3/23 73 60 11 27 27 0 CNTN6,missense_variant,p.Gly54Cys,ENST00000446702,;CNTN6,missense_variant,p.Gly54Cys,ENST00000350110,NM_014461.3,NM_001289080.1,NM_001289081.1;CNTN6,3_prime_UTR_variant,,ENST00000397479,;CNTN6,3_prime_UTR_variant,,ENST00000394261,; T ENSG00000134115 ENST00000446702 Transcript missense_variant 787/4513 160/3087 54/1028 G/C Ggt/Tgt rs201450079 1 1 CNTN6 HGNC HGNC:2176 protein_coding YES CCDS2557.1 ENSP00000407822 Q9UQ52 A0A024R2C7 UPI0000072430 deleterious(0) probably_damaging(1) 3/23 PROSITE_profiles:PS50835,hmmpanther:PTHR43905:SF6,hmmpanther:PTHR43905,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS TGG . . 1220791 GORASP1 . GRCh38 chr3 39100424 39100424 + Missense_Mutation SNP T T A novel 7316-3303 BS_0KKH9VKP T T c.646A>T p.Thr216Ser p.T216S ENST00000319283 6/9 99 69 30 35 33 0 GORASP1,missense_variant,p.Thr216Ser,ENST00000319283,NM_031899.3;GORASP1,missense_variant,p.Thr61Ser,ENST00000422110,NM_001278790.1;GORASP1,missense_variant,p.Thr121Ser,ENST00000479927,NM_001278789.1;WDR48,downstream_gene_variant,,ENST00000302313,NM_001303403.1,NM_001303402.1,NM_020839.3,NM_001346226.1;GORASP1,downstream_gene_variant,,ENST00000416741,;GORASP1,downstream_gene_variant,,ENST00000437458,;GORASP1,downstream_gene_variant,,ENST00000441081,;GORASP1,non_coding_transcript_exon_variant,,ENST00000489587,;GORASP1,downstream_gene_variant,,ENST00000411813,;GORASP1,downstream_gene_variant,,ENST00000413243,;WDR48,downstream_gene_variant,,ENST00000466405,;GORASP1,upstream_gene_variant,,ENST00000476334,;GORASP1,downstream_gene_variant,,ENST00000479124,;GORASP1,downstream_gene_variant,,ENST00000486133,;GORASP1,downstream_gene_variant,,ENST00000493751,;GORASP1,downstream_gene_variant,,ENST00000493938,;GORASP1,missense_variant,p.His202Leu,ENST00000452389,;GORASP1,missense_variant,p.Thr143Ser,ENST00000431601,;GORASP1,synonymous_variant,p.Ala199=,ENST00000453680,;GORASP1,3_prime_UTR_variant,,ENST00000419156,;GORASP1,non_coding_transcript_exon_variant,,ENST00000441302,;GORASP1,non_coding_transcript_exon_variant,,ENST00000470910,;GORASP1,intron_variant,,ENST00000427459,;WDR48,downstream_gene_variant,,ENST00000420940,;GORASP1,downstream_gene_variant,,ENST00000466443,;GORASP1,downstream_gene_variant,,ENST00000469471,;GORASP1,downstream_gene_variant,,ENST00000473827,;GORASP1,downstream_gene_variant,,ENST00000488479,;GORASP1,downstream_gene_variant,,ENST00000492064,;GORASP1,downstream_gene_variant,,ENST00000493851,; A ENSG00000114745 ENST00000319283 Transcript missense_variant 1468/3722 646/1323 216/440 T/S Acc/Tcc 1 -1 GORASP1 HGNC HGNC:16769 protein_coding YES CCDS2681.1 ENSP00000313869 Q9BQQ3 A0A024R2U5 UPI000007074D NM_031899.3 tolerated(0.59) benign(0) 6/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12893,hmmpanther:PTHR12893:SF2 MODERATE 1 SNV 1 PASS GTG . . 39100424 CCDC80 . GRCh38 chr3 112607221 112607221 + Missense_Mutation SNP C C G 7316-3303 BS_0KKH9VKP C C c.2461G>C p.Val821Leu p.V821L ENST00000206423 7/8 82 63 16 24 22 0 CCDC80,missense_variant,p.Val821Leu,ENST00000206423,NM_199511.2;CCDC80,missense_variant,p.Val821Leu,ENST00000439685,NM_199512.2;CCDC80,missense_variant,p.Val99Leu,ENST00000479368,;CCDC80,intron_variant,,ENST00000461431,; G ENSG00000091986 ENST00000206423 Transcript missense_variant 3415/12430 2461/2853 821/950 V/L Gtt/Ctt COSM4112238 1 -1 CCDC80 HGNC HGNC:30649 protein_coding YES CCDS2968.1 ENSP00000206423 Q76M96 UPI000004EE7F NM_199511.2 tolerated(0.67) benign(0.019) 7/8 Pfam_domain:PF13778,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF419,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS ACG . . 112607221 HGD . GRCh38 chr3 120638541 120638541 + Missense_Mutation SNP C C T rs752719362 7316-3303 BS_0KKH9VKP C C c.920G>A p.Arg307His p.R307H ENST00000283871 12/14 100 94 6 28 28 0 HGD,missense_variant,p.Arg307His,ENST00000283871,NM_000187.3;HGD,missense_variant,p.Arg114His,ENST00000494453,;HGD,intron_variant,,ENST00000475447,;HGD,non_coding_transcript_exon_variant,,ENST00000470321,;HGD,intron_variant,,ENST00000492108,; T ENSG00000113924 ENST00000283871 Transcript missense_variant 1380/2005 920/1338 307/445 R/H cGc/cAc rs752719362,COSM6679649 1 -1 HGD HGNC HGNC:4892 protein_coding YES CCDS3000.1 ENSP00000283871 Q93099 UPI000020A025 NM_000187.3 tolerated(0.21) benign(0.009) 12/14 PDB-ENSP_mappings:1ey2.A,PDB-ENSP_mappings:1eyb.A,Gene3D:2.60.120.10,Pfam_domain:PF04209,hmmpanther:PTHR11056,hmmpanther:PTHR11056:SF0,Superfamily_domains:SSF51182,TIGRFAM_domain:TIGR01015 uncertain_significance 0,1 MODERATE 1 SNV 1 1,1 1 PASS GCG . . 8.129e-05 6.536e-05 0.0001489 0.0002321 4.484e-05 2.69e-05 0.0001949 120638541 PCOLCE2 . GRCh38 chr3 142820946 142820955 + Frame_Shift_Del DEL TGAATCGCCA TGAATCGCCA - novel 7316-3303 BS_0KKH9VKP TGAATCGCCA TGAATCGCCA c.1040_1049del p.Leu347CysfsTer7 p.L347Cfs*7 ENST00000295992 8/9 83 68 11 33 33 0 PCOLCE2,frameshift_variant,p.Leu347CysfsTer7,ENST00000295992,NM_013363.3;PCOLCE2,frameshift_variant,p.Phe267LeufsTer67,ENST00000485766,;PCOLCE2,frameshift_variant,p.Leu72CysfsTer7,ENST00000470310,;PCOLCE2,non_coding_transcript_exon_variant,,ENST00000470795,;PCOLCE2,downstream_gene_variant,,ENST00000480473,; - ENSG00000163710 ENST00000295992 Transcript frameshift_variant 1347-1356/2021 1040-1049/1248 347-350/415 LAIQ/X tTGGCGATTCAg/tg 1 -1 PCOLCE2 HGNC HGNC:8739 protein_coding YES CCDS3127.1 ENSP00000295992 Q9UKZ9 UPI0000073F93 NM_013363.3 8/9 PROSITE_profiles:PS50189,cd03576,hmmpanther:PTHR44264,hmmpanther:PTHR44264:SF1,Gene3D:2.40.50.120,Pfam_domain:PF01759,SMART_domains:SM00643,Superfamily_domains:SSF50242 HIGH 1 deletion 1 PASS GCTGAATCGCCAA . . 142820945 MRE11P1 . GRCh38 chr3 156113411 156113411 + Splice_Region DEL C C - novel 7316-3303 BS_0KKH9VKP C C n.780+8del ENST00000464884 94 73 15 21 21 0 KCNAB1,intron_variant,,ENST00000472028,;KCNAB1,intron_variant,,ENST00000477912,;KCNAB1,intron_variant,,ENST00000478609,;MRE11P1,splice_region_variant,,ENST00000464884,; - ENSG00000242537 ENST00000464884 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 MRE11P1 HGNC HGNC:7231 processed_pseudogene YES 1/2 LOW 1 deletion PASS TGCG . . 156113410 NRROS . GRCh38 chr3 196639877 196639877 + Splice_Site SNP T T G novel 7316-3303 BS_0KKH9VKP T T c.-14+2T>G ENST00000328557 125 112 10 29 29 0 NRROS,splice_donor_variant,,ENST00000328557,NM_198565.2;PIGX,splice_donor_variant,,ENST00000426755,;NRROS,splice_donor_variant,,ENST00000461791,;,regulatory_region_variant,,ENSR00000164442,; G ENSG00000174004 ENST00000328557 Transcript splice_donor_variant 1 1 NRROS HGNC HGNC:24613 protein_coding YES CCDS3319.1 ENSP00000328625 Q86YC3 UPI000000DA7E NM_198565.2 1/2 HIGH 1 SNV 1 PASS GTG . . 196639877 FAM193A . GRCh38 chr4 2700420 2700420 + Missense_Mutation SNP G G A novel 7316-3303 BS_0KKH9VKP G G c.3375G>A p.Met1125Ile p.M1125I ENST00000324666 17/20 67 31 34 29 28 0 FAM193A,missense_variant,p.Met1416Ile,ENST00000637812,;FAM193A,missense_variant,p.Met1125Ile,ENST00000324666,NM_001256666.1;FAM193A,missense_variant,p.Met1125Ile,ENST00000382839,NM_003704.3;FAM193A,missense_variant,p.Met1125Ile,ENST00000505311,NM_001256668.1;FAM193A,missense_variant,p.Met1147Ile,ENST00000502458,NM_001256667.1;FAM193A,missense_variant,p.Met1125Ile,ENST00000545951,;FAM193A,missense_variant,p.Met979Ile,ENST00000513350,;FAM193A,3_prime_UTR_variant,,ENST00000512465,;FAM193A,3_prime_UTR_variant,,ENST00000513898,;FAM193A,downstream_gene_variant,,ENST00000506120,; A ENSG00000125386 ENST00000324666 Transcript missense_variant 3726/4846 3375/3798 1125/1265 M/I atG/atA 1 1 FAM193A HGNC HGNC:16822 protein_coding YES CCDS58875.1 ENSP00000324587 P78312 UPI0000551BCA NM_001256666.1 tolerated(0.47) benign(0) 17/20 mobidb-lite,hmmpanther:PTHR15109,hmmpanther:PTHR15109:SF2 MODERATE 1 SNV 1 PASS TGG . . 2700420 NKX6-1 . GRCh38 chr4 84498047 84498047 + Missense_Mutation SNP G G C 7316-3303 BS_0KKH9VKP G G c.182C>G p.Ser61Cys p.S61C ENST00000295886 1/3 43 28 10 21 19 0 NKX6-1,missense_variant,p.Ser61Cys,ENST00000295886,NM_006168.2;NKX6-1,upstream_gene_variant,,ENST00000515820,; C ENSG00000163623 ENST00000295886 Transcript missense_variant 404/2628 182/1104 61/367 S/C tCc/tGc COSM4473138 1 -1 NKX6-1 HGNC HGNC:7839 protein_coding YES CCDS3607.1 ENSP00000295886 P78426 UPI000013E2C6 NM_006168.2 deleterious_low_confidence(0.01) possibly_damaging(0.869) 1/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24340:SF31,hmmpanther:PTHR24340 1 MODERATE 1 SNV 1 1 PASS GGA . . 84498047 CYP4V2 . GRCh38 chr4 186194577 186194577 + Missense_Mutation SNP C C T rs1402621376 7316-3303 BS_0KKH9VKP C C c.292C>T p.Pro98Ser p.P98S ENST00000378802 2/11 57 46 11 27 27 0 CYP4V2,missense_variant,p.Pro98Ser,ENST00000378802,NM_207352.3;AC110771.1,upstream_gene_variant,,ENST00000623820,;CYP4V2,upstream_gene_variant,,ENST00000507209,; T ENSG00000145476 ENST00000378802 Transcript missense_variant 596/2042 292/1578 98/525 P/S Ccc/Tcc rs1402621376 1 1 CYP4V2 HGNC HGNC:23198 protein_coding YES CCDS34119.1 ENSP00000368079 Q6ZWL3 UPI00002372FE NM_207352.3 deleterious(0) possibly_damaging(0.899) 2/11 Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF56,Superfamily_domains:SSF48264 MODERATE 1 SNV 1 1 PASS GCC . . 186194577 HCN1 . GRCh38 chr5 45262424 45262424 + Missense_Mutation SNP C C A 7316-3303 BS_0KKH9VKP C C c.2170G>T p.Ala724Ser p.A724S ENST00000303230 8/8 76 59 16 32 31 0 HCN1,missense_variant,p.Ala724Ser,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,; A ENSG00000164588 ENST00000303230 Transcript missense_variant 2411/9885 2170/2673 724/890 A/S Gcc/Tcc COSM1543895 1 -1 HCN1 HGNC HGNC:4845 protein_coding YES CCDS3952.1 ENSP00000307342 O60741 UPI00001AED69 NM_021072.3 tolerated_low_confidence(0.17) benign(0.067) 8/8 PDB-ENSP_mappings:5u6o.A,PDB-ENSP_mappings:5u6o.B,PDB-ENSP_mappings:5u6o.C,PDB-ENSP_mappings:5u6o.D,PDB-ENSP_mappings:5u6p.A,PDB-ENSP_mappings:5u6p.B,PDB-ENSP_mappings:5u6p.C,PDB-ENSP_mappings:5u6p.D,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373 1 MODERATE 1 SNV 1 1 1 PASS GCG . . 45262424 ARHGEF28 . GRCh38 chr5 73780736 73780736 + Missense_Mutation SNP A A C novel 7316-3303 BS_0KKH9VKP A A c.901A>C p.Thr301Pro p.T301P ENST00000545377 7/37 67 35 31 27 27 0 ARHGEF28,missense_variant,p.Thr301Pro,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Thr301Pro,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Thr301Pro,ENST00000426542,;ARHGEF28,missense_variant,p.Thr301Pro,ENST00000437974,;ARHGEF28,missense_variant,p.Thr301Pro,ENST00000296794,;AC091868.2,intron_variant,,ENST00000506717,; C ENSG00000214944 ENST00000545377 Transcript missense_variant 1077/6351 901/5196 301/1731 T/P Act/Cct 1 1 ARHGEF28 HGNC HGNC:30322 protein_coding YES CCDS47231.2 ENSP00000441913 Q8N1W1 UPI00004DF58E NM_001080479.2 tolerated(0.07) benign(0.368) 7/37 Gene3D:1.25.40.20,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133,mobidb-lite MODERATE SNV 5 PASS AAC . . 73780736 ARHGEF28 . GRCh38 chr5 73780741 73780741 + Missense_Mutation SNP A A T 7316-3303 BS_0KKH9VKP A A c.906A>T p.Glu302Asp p.E302D ENST00000545377 7/37 67 34 31 28 28 0 ARHGEF28,missense_variant,p.Glu302Asp,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Glu302Asp,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Glu302Asp,ENST00000426542,;ARHGEF28,missense_variant,p.Glu302Asp,ENST00000437974,;ARHGEF28,missense_variant,p.Glu302Asp,ENST00000296794,;AC091868.2,intron_variant,,ENST00000506717,; T ENSG00000214944 ENST00000545377 Transcript missense_variant 1082/6351 906/5196 302/1731 E/D gaA/gaT COSM5073168,COSM5073167 1 1 ARHGEF28 HGNC HGNC:30322 protein_coding YES CCDS47231.2 ENSP00000441913 Q8N1W1 UPI00004DF58E NM_001080479.2 tolerated(0.39) benign(0.01) 7/37 Gene3D:1.25.40.20,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133,mobidb-lite 1,1 MODERATE SNV 5 1,1 PASS AAG . . 73780741 ELL2 . GRCh38 chr5 95898521 95898528 + Frame_Shift_Del DEL AAACTGTC AAACTGTC - novel 7316-3303 BS_0KKH9VKP AAACTGTC AAACTGTC c.1237_1244del p.Asp413Ter p.D413* ENST00000237853 8/12 58 48 10 28 27 0 ELL2,frameshift_variant,p.Asp413Ter,ENST00000237853,NM_012081.5;ELL2,upstream_gene_variant,,ENST00000508757,;ELL2,downstream_gene_variant,,ENST00000513343,;ELL2,downstream_gene_variant,,ENST00000505584,; - ENSG00000118985 ENST00000237853 Transcript frameshift_variant 1587-1594/6046 1237-1244/1923 413-415/640 DSF/X GACAGTTTt/t 1 -1 ELL2 HGNC HGNC:17064 protein_coding YES CCDS4080.1 ENSP00000237853 O00472 UPI000013CA27 NM_012081.5 8/12 hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF8,mobidb-lite HIGH 1 deletion 1 PASS TAAAACTGTCA . . 95898520 SLC12A2 . GRCh38 chr5 128084128 128084128 + Missense_Mutation SNP T T G novel 7316-3303 BS_0KKH9VKP T T c.174T>G p.Asp58Glu p.D58E ENST00000262461 1/27 82 69 11 27 26 1 SLC12A2,missense_variant,p.Asp58Glu,ENST00000262461,NM_001046.2;SLC12A2,missense_variant,p.Asp58Glu,ENST00000343225,NM_001256461.1;SLC12A2,missense_variant,p.Asp58Glu,ENST00000628403,;LINC01184,upstream_gene_variant,,ENST00000499346,;LINC01184,upstream_gene_variant,,ENST00000501173,;LINC01184,upstream_gene_variant,,ENST00000501652,;LINC01184,upstream_gene_variant,,ENST00000501702,;LINC01184,upstream_gene_variant,,ENST00000508353,;LINC01184,upstream_gene_variant,,ENST00000508878,;LINC01184,upstream_gene_variant,,ENST00000514409,;LINC01184,upstream_gene_variant,,ENST00000514573,;LINC01184,upstream_gene_variant,,ENST00000606251,;SLC12A2,missense_variant,p.Asp58Glu,ENST00000509205,;,regulatory_region_variant,,ENSR00000186556,; G ENSG00000064651 ENST00000262461 Transcript missense_variant 363/6885 174/3639 58/1212 D/E gaT/gaG 1 1 SLC12A2 HGNC HGNC:10911 protein_coding YES CCDS4144.1 ENSP00000262461 P55011 Q53ZR1 UPI000013541A NM_001046.2 tolerated_low_confidence(0.1) benign(0) 1/27 mobidb-lite MODERATE 1 SNV 1 PASS ATG . . 128084128 HK3 . GRCh38 chr5 176881165 176881165 + Missense_Mutation SNP C C A rs1466539149 7316-3303 BS_0KKH9VKP C C c.2680G>T p.Val894Phe p.V894F ENST00000292432 19/19 90 72 18 46 44 0 HK3,missense_variant,p.Val894Phe,ENST00000292432,NM_002115.2;UNC5A,downstream_gene_variant,,ENST00000329542,NM_133369.2;UNC5A,downstream_gene_variant,,ENST00000509580,;HK3,downstream_gene_variant,,ENST00000514058,;HK3,non_coding_transcript_exon_variant,,ENST00000506834,;HK3,downstream_gene_variant,,ENST00000514666,; A ENSG00000160883 ENST00000292432 Transcript missense_variant 2772/3066 2680/2772 894/923 V/F Gtc/Ttc rs1466539149 1 -1 HK3 HGNC HGNC:4925 protein_coding YES CCDS4407.1 ENSP00000292432 P52790 A0A024R7R1 UPI000006E237 NM_002115.2 tolerated(0.06) probably_damaging(1) 19/19 Gene3D:3.40.367.20,PDB-ENSP_mappings:3hm8.A,PDB-ENSP_mappings:3hm8.B,PDB-ENSP_mappings:3hm8.C,PDB-ENSP_mappings:3hm8.D,Pfam_domain:PF03727,PROSITE_profiles:PS51748,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF1,Superfamily_domains:SSF53067 MODERATE 1 SNV 1 PASS ACC . . 4.078e-06 2.981e-05 176881165 DNAH8 . GRCh38 chr6 38911475 38911475 + Nonsense_Mutation SNP C C T rs747123680 7316-3303 BS_0KKH9VKP C C c.9748C>T p.Arg3250Ter p.R3250* ENST00000327475 66/93 80 64 16 20 19 0 DNAH8,stop_gained,p.Arg3250Ter,ENST00000327475,NM_001206927.1;DNAH8,stop_gained,p.Arg3033Ter,ENST00000359357,;DNAH8,stop_gained,p.Arg3250Ter,ENST00000449981,; T ENSG00000124721 ENST00000327475 Transcript stop_gained 9857/14360 9748/14124 3250/4707 R/* Cga/Tga rs747123680 1 1 DNAH8 HGNC HGNC:2952 protein_coding YES CCDS75447.1 ENSP00000333363 A0A075B6F3 UPI000179A984 NM_001206927.1 66/93 hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF12780,Gene3D:1.20.1170.10,Superfamily_domains:SSF52540 HIGH 1 SNV 5 PASS CCG . . 1.22e-05 5.804e-05 8.972e-06 3.252e-05 38911475 COL19A1 . GRCh38 chr6 70207266 70207266 + Missense_Mutation SNP G G A novel 7316-3303 BS_0KKH9VKP G G c.3421G>A p.Gly1141Arg p.G1141R ENST00000620364 51/51 68 50 13 34 33 0 COL19A1,missense_variant,p.Gly1141Arg,ENST00000620364,NM_001858.5; A ENSG00000082293 ENST00000620364 Transcript missense_variant 3523/6233 3421/3429 1141/1142 G/R Ggg/Agg 1 1 COL19A1 HGNC HGNC:2196 protein_coding YES CCDS4970.1 ENSP00000480474 Q14993 UPI000004F1E3 NM_001858.5 deleterious_low_confidence(0) benign(0.065) 51/51 hmmpanther:PTHR45056,mobidb-lite MODERATE 1 SNV 1 PASS TGG . . 70207266 RARS2 . GRCh38 chr6 87555484 87555484 + Nonsense_Mutation SNP C C A novel 7316-3303 BS_0KKH9VKP C C c.319G>T p.Glu107Ter p.E107* ENST00000369536 5/20 41 25 15 21 20 0 RARS2,stop_gained,p.Glu107Ter,ENST00000369536,NM_001318785.1,NM_020320.4;RARS2,stop_gained,p.Glu135Ter,ENST00000451155,; A ENSG00000146282 ENST00000369536 Transcript stop_gained 365/1818 319/1737 107/578 E/* Gaa/Taa 1 -1 RARS2 HGNC HGNC:21406 protein_coding YES CCDS5011.1 ENSP00000358549 Q5T160 UPI000020D2E6 NM_001318785.1,NM_020320.4 5/20 Gene3D:3.30.1360.70,hmmpanther:PTHR11956,hmmpanther:PTHR11956:SF1,Superfamily_domains:SSF55190,TIGRFAM_domain:TIGR00456 HIGH 1 SNV 1 1 PASS TCA . . 87555484 MUC17 . GRCh38 chr7 101041333 101041333 + Missense_Mutation SNP C C T rs778418183 7316-3303 BS_0KKH9VKP C C c.9917C>T p.Ala3306Val p.A3306V ENST00000306151 3/13 128 108 8 24 23 0 MUC17,missense_variant,p.Ala3306Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala3306Val,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 9981/14247 9917/13482 3306/4493 A/V gCt/gTt rs778418183 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.046) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCT . . 4.133e-06 9.029e-06 101041333 SPAM1 . GRCh38 chr7 123953809 123953809 + Missense_Mutation SNP G G A rs1262667071 7316-3303 BS_0KKH9VKP G G c.239G>A p.Arg80Gln p.R80Q ENST00000340011 3/7 116 51 65 42 42 0 SPAM1,missense_variant,p.Arg80Gln,ENST00000340011,NM_003117.4;SPAM1,missense_variant,p.Arg80Gln,ENST00000439500,NM_001174045.1,NM_001174046.1;SPAM1,missense_variant,p.Arg80Gln,ENST00000460182,NM_001174044.1,NM_153189.2;SPAM1,missense_variant,p.Arg80Gln,ENST00000223028,;SPAM1,missense_variant,p.Arg80Gln,ENST00000402183,;SPAM1,missense_variant,p.Arg80Gln,ENST00000413927,; A ENSG00000106304 ENST00000340011 Transcript missense_variant 596/2349 239/1536 80/511 R/Q cGa/cAa rs1262667071,COSM3831771,COSM3831770 1 1 SPAM1 HGNC HGNC:11217 protein_coding YES CCDS5790.1 ENSP00000345849 P38567 UPI0000072166 NM_003117.4 tolerated(0.49) benign(0.073) 3/7 hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF20,PIRSF_domain:PIRSF038193,Gene3D:3.20.20.70,PIRSF_domain:PIRSF500773,Pfam_domain:PF01630,Superfamily_domains:SSF51445,Prints_domain:PR00848 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGA . . 4.095e-06 5.811e-05 123953809 MFHAS1 . GRCh38 chr8 8892553 8892553 + Missense_Mutation SNP C C A 7316-3303 BS_0KKH9VKP C C c.506G>T p.Arg169Leu p.R169L ENST00000276282 1/3 59 38 20 24 23 0 MFHAS1,missense_variant,p.Arg169Leu,ENST00000276282,NM_004225.2;RNU6-682P,upstream_gene_variant,,ENST00000363843,;,regulatory_region_variant,,ENSR00000220826,; A ENSG00000147324 ENST00000276282 Transcript missense_variant 1093/6414 506/3159 169/1052 R/L cGg/cTg COSM117110 1 -1 MFHAS1 HGNC HGNC:16982 protein_coding YES CCDS34844.1 ENSP00000276282 Q9Y4C4 UPI000013DAB6 NM_004225.2 tolerated(0.47) benign(0.009) 1/3 Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR44393,SMART_domains:SM00364,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058 1 MODERATE 1 SNV 1 1 PASS CCG . . 8892553 SLC35G5 . GRCh38 chr8 11332020 11332020 + Missense_Mutation SNP T T C rs62488716 7316-3303 BS_0KKH9VKP T T c.914T>C p.Val305Ala p.V305A ENST00000382435 1/1 57 49 8 40 40 0 SLC35G5,missense_variant,p.Val305Ala,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; C ENSG00000177710 ENST00000382435 Transcript missense_variant 1133/1321 914/1017 305/338 V/A gTg/gCg rs62488716,COSM4593558 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.35) possibly_damaging(0.484) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481 0,1 MODERATE SNV 0,1 PASS GTG . . 0.001862 0.0001339 0.0009706 0.0006698 0.004659 0.003283 0.001965 0.001793 0.001478 11332020 SLC35G5 . GRCh38 chr8 11332082 11332082 + Missense_Mutation SNP C C T rs62488717 7316-3303 BS_0KKH9VKP C C c.976C>T p.Arg326Trp p.R326W ENST00000382435 1/1 55 46 7 44 44 0 SLC35G5,missense_variant,p.Arg326Trp,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; T ENSG00000177710 ENST00000382435 Transcript missense_variant 1195/1321 976/1017 326/338 R/W Cgg/Tgg rs62488717,COSM3718698 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.17) benign(0) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 MODERATE SNV 0,1 PASS CCG . . 0.2934 0.1711 0.2975 0.3221 0.2793 0.3895 0.2956 0.2607 0.2856 11332082 UBR5 . GRCh38 chr8 102272691 102272695 + Frame_Shift_Del DEL GTGTA GTGTA - novel 7316-3303 BS_0KKH9VKP GTGTA GTGTA c.6807_6811del p.Thr2270AsnfsTer11 p.T2270Nfs*11 ENST00000520539 48/59 72 63 9 33 33 0 UBR5,frameshift_variant,p.Thr2270AsnfsTer11,ENST00000520539,NM_015902.5;UBR5,frameshift_variant,p.Thr2270AsnfsTer11,ENST00000220959,NM_001282873.1;UBR5,frameshift_variant,p.Thr2264AsnfsTer11,ENST00000521922,;UBR5,frameshift_variant,p.Thr95AsnfsTer11,ENST00000521566,;UBR5,5_prime_UTR_variant,,ENST00000518205,;UBR5,upstream_gene_variant,,ENST00000521767,; - ENSG00000104517 ENST00000520539 Transcript frameshift_variant 7414-7418/10297 6807-6811/8400 2269-2271/2799 TTP/TX acTACACca/acca 1 -1 UBR5 HGNC HGNC:16806 protein_coding YES CCDS34933.1 ENSP00000429084 O95071 UPI0000129BCB NM_015902.5 48/59 Gene3D:3.90.1750.10,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF402,Superfamily_domains:SSF56204 HIGH 1 deletion 1 1 PASS TGGTGTAG . . 102272690 TG . GRCh38 chr8 132898836 132898836 + Missense_Mutation SNP C C A novel 7316-3303 BS_0KKH9VKP C C c.3256C>A p.Leu1086Ile p.L1086I ENST00000220616 14/48 71 47 23 21 21 0 TG,missense_variant,p.Leu1086Ile,ENST00000220616,NM_003235.4;TG,missense_variant,p.Leu53Ile,ENST00000518505,;TG,missense_variant,p.Leu73Ile,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000518097,; A ENSG00000042832 ENST00000220616 Transcript missense_variant 3296/8450 3256/8307 1086/2768 L/I Ctt/Att 1 1 TG HGNC HGNC:11764 protein_coding YES CCDS34944.1 ENSP00000220616 P01266 UPI000013C79F NM_003235.4 tolerated(0.55) benign(0.022) 14/48 Gene3D:4.10.800.10,Pfam_domain:PF00086,PIRSF_domain:PIRSF001831,PROSITE_profiles:PS51162,hmmpanther:PTHR14093,hmmpanther:PTHR14093:SF19 MODERATE 1 SNV 1 1 PASS GCT . . 132898836 TOP1MT . GRCh38 chr8 143309550 143309550 + Splice_Region SNP G G A novel 7316-3303 BS_0KKH9VKP G G c.1704-7C>T ENST00000329245 69 33 34 35 34 0 TOP1MT,splice_region_variant,,ENST00000329245,NM_052963.2;TOP1MT,splice_region_variant,,ENST00000519148,NM_001258447.1;TOP1MT,splice_region_variant,,ENST00000519977,;TOP1MT,splice_region_variant,,ENST00000521193,NM_001258446.1;TOP1MT,splice_region_variant,,ENST00000523676,;TOP1MT,splice_region_variant,,ENST00000517857,; A ENSG00000184428 ENST00000329245 Transcript splice_region_variant,intron_variant 1 -1 TOP1MT HGNC HGNC:29787 protein_coding YES CCDS6400.1 ENSP00000328835 Q969P6 E5KMK7 UPI000013716D NM_052963.2 13/13 LOW 1 SNV 1 PASS GGA . . 143309550 KYAT1 . GRCh38 chr9 128838298 128838298 + Missense_Mutation SNP G G A rs755466968 7316-3303 BS_0KKH9VKP G G c.553C>T p.Leu185Phe p.L185F ENST00000436267 6/15 96 69 27 34 31 0 KYAT1,missense_variant,p.Leu185Phe,ENST00000436267,NM_001287390.1,NM_001352994.1,NM_001352996.1,NM_001352995.1;KYAT1,missense_variant,p.Leu91Phe,ENST00000302586,NM_001122671.1,NM_004059.4;KYAT1,missense_variant,p.Leu91Phe,ENST00000451800,;KYAT1,missense_variant,p.Leu91Phe,ENST00000416084,;KYAT1,missense_variant,p.Leu152Phe,ENST00000427720,;KYAT1,intron_variant,,ENST00000320665,NM_001122672.1;KYAT1,non_coding_transcript_exon_variant,,ENST00000462722,;KYAT1,non_coding_transcript_exon_variant,,ENST00000474824,;KYAT1,intron_variant,,ENST00000483599,;KYAT1,upstream_gene_variant,,ENST00000466418,;,regulatory_region_variant,,ENSR00000241911,; A ENSG00000171097 ENST00000436267 Transcript missense_variant 847/2487 553/1551 185/516 L/F Ctc/Ttc rs755466968 1 -1 KYAT1 HGNC HGNC:1564 protein_coding YES CCDS75915.1 ENSP00000399415 B7Z4W5 UPI0000EE5683 NM_001287390.1,NM_001352994.1,NM_001352996.1,NM_001352995.1 tolerated(0.36) benign(0.015) 6/15 Gene3D:3.40.640.10,Pfam_domain:PF00155,hmmpanther:PTHR43807,hmmpanther:PTHR43807:SF14,Superfamily_domains:SSF53383,cd00609 MODERATE 1 SNV 2 PASS AGC . . 1.624e-05 0.0001299 128838298 ADARB2 . GRCh38 chr10 1363522 1363522 + Missense_Mutation SNP C C T 7316-3303 BS_0KKH9VKP C C c.583G>A p.Ala195Thr p.A195T ENST00000381312 3/10 60 45 13 36 36 0 ADARB2,missense_variant,p.Ala195Thr,ENST00000381312,NM_018702.3;AL513304.1,upstream_gene_variant,,ENST00000432987,; T ENSG00000185736 ENST00000381312 Transcript missense_variant 909/8421 583/2220 195/739 A/T Gcc/Acc COSM4012966 1 -1 ADARB2 HGNC HGNC:227 protein_coding YES CCDS7058.1 ENSP00000370713 Q9NS39 UPI0000071776 NM_018702.3 tolerated(0.13) benign(0.062) 3/10 hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910 1 MODERATE 1 SNV 1 1 PASS GCG . . 1363522 PFKFB3 . GRCh38 chr10 6221515 6221515 + Missense_Mutation SNP T T G novel 7316-3303 BS_0KKH9VKP T T c.1008T>G p.Asn336Lys p.N336K ENST00000536985 9/15 108 96 10 25 25 0 PFKFB3,missense_variant,p.Asn322Lys,ENST00000360521,NM_001314063.1;PFKFB3,missense_variant,p.Asn322Lys,ENST00000379775,NM_001323017.1,NM_004566.3;PFKFB3,missense_variant,p.Asn302Lys,ENST00000379789,NM_001145443.2,NM_001323016.1;PFKFB3,missense_variant,p.Asn322Lys,ENST00000640683,;PFKFB3,missense_variant,p.Asn322Lys,ENST00000379785,;PFKFB3,missense_variant,p.Asn336Lys,ENST00000536985,NM_001282630.2;PFKFB3,missense_variant,p.Asn322Lys,ENST00000317350,;PFKFB3,missense_variant,p.Asn322Lys,ENST00000626882,;PFKFB3,missense_variant,p.Asn322Lys,ENST00000625260,;PFKFB3,missense_variant,p.Asn38Lys,ENST00000450232,;PFKFB3,upstream_gene_variant,,ENST00000414237,;PFKFB3,upstream_gene_variant,,ENST00000441697,;PFKFB3,downstream_gene_variant,,ENST00000639949,;PFKFB3,missense_variant,p.Asn322Lys,ENST00000467491,;PFKFB3,missense_variant,p.Asn322Lys,ENST00000461744,;PFKFB3,missense_variant,p.Asn322Lys,ENST00000490474,;PFKFB3,missense_variant,p.Asn322Lys,ENST00000477914,;PFKFB3,upstream_gene_variant,,ENST00000475881,;PFKFB3,upstream_gene_variant,,ENST00000487989,; G ENSG00000170525 ENST00000536985 Transcript missense_variant 1071/2094 1008/1605 336/534 N/K aaT/aaG 1 1 PFKFB3 HGNC HGNC:8874 protein_coding YES CCDS60479.1 ENSP00000443319 Q16875 UPI0001915356 NM_001282630.2 probably_damaging(1) 9/15 cd07067,hmmpanther:PTHR10606:SF41,hmmpanther:PTHR10606,Pfam_domain:PF00300,PIRSF_domain:PIRSF000709,Gene3D:3.40.50.1240,SMART_domains:SM00855,Superfamily_domains:SSF53254 MODERATE 1 SNV 2 PASS ATG . . 6221515 MALRD1 . GRCh38 chr10 19205124 19205124 + Missense_Mutation SNP A A G novel 7316-3303 BS_0KKH9VKP A A c.2437A>G p.Asn813Asp p.N813D ENST00000454679 17/40 67 49 16 18 17 0 MALRD1,missense_variant,p.Asn813Asp,ENST00000454679,NM_001142308.2;MALRD1,missense_variant,p.Asn122Asp,ENST00000377266,; G ENSG00000204740 ENST00000454679 Transcript missense_variant 2605/6880 2437/6471 813/2156 N/D Aat/Gat 1 1 MALRD1 HGNC HGNC:24331 protein_coding YES CCDS73071.1 ENSP00000412763 Q5VYJ5 UPI000387C99A NM_001142308.2 deleterious(0.01) benign(0.045) 17/40 Gene3D:2.60.120.200,Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF86,SMART_domains:SM00137,Superfamily_domains:SSF49899,cd06263 MODERATE 1 SNV 1 PASS AAA . . 19205124 FAM25G . GRCh38 chr10 47487301 47487301 + Missense_Mutation SNP C C T rs3006286 7316-3303 BS_0KKH9VKP C C c.244G>A p.Glu82Lys p.E82K ENST00000452267 3/3 49 39 9 20 20 0 FAM25G,missense_variant,p.Glu82Lys,ENST00000452267,NM_001137549.1;ANXA8,upstream_gene_variant,,ENST00000583448,;ANXA8,upstream_gene_variant,,ENST00000583874,;ANXA8,upstream_gene_variant,,ENST00000583911,NM_001271703.1;ANXA8,upstream_gene_variant,,ENST00000585281,NM_001040084.2;ANXA8,upstream_gene_variant,,ENST00000611843,NM_001271702.1;FAM25G,non_coding_transcript_exon_variant,,ENST00000481177,;ANXA8,upstream_gene_variant,,ENST00000577813,;ANXA8,upstream_gene_variant,,ENST00000602877,;AL591684.3,upstream_gene_variant,,ENST00000605187,; T ENSG00000189090 ENST00000452267 Transcript missense_variant 263/345 244/270 82/89 E/K Gaa/Aaa rs3006286 1 -1 FAM25G HGNC HGNC:23590 protein_coding YES CCDS73124.1 ENSP00000413896 B3EWG6 UPI00003666A7 NM_001137549.1 deleterious_low_confidence(0.01) benign(0.039) 3/3 Gene3D:1.20.5.1230,Pfam_domain:PF15825,Prints_domain:PR02048,hmmpanther:PTHR34994 MODERATE 1 SNV 1 PASS TCT . . 47487301 TYSND1 . GRCh38 chr10 70146116 70146116 + Missense_Mutation SNP T T G novel 7316-3303 BS_0KKH9VKP T T c.471A>C p.Glu157Asp p.E157D ENST00000287078 1/4 78 64 12 30 29 1 TYSND1,missense_variant,p.Glu157Asp,ENST00000287078,NM_173555.3;TYSND1,missense_variant,p.Glu157Asp,ENST00000335494,NM_001040273.2;SAR1A,downstream_gene_variant,,ENST00000373238,;SAR1A,downstream_gene_variant,,ENST00000373241,NM_020150.4;SAR1A,downstream_gene_variant,,ENST00000373242,NM_001142648.1;SAR1A,downstream_gene_variant,,ENST00000431664,;TYSND1,intron_variant,,ENST00000479086,;TYSND1,upstream_gene_variant,,ENST00000494143,;,regulatory_region_variant,,ENSR00000029348,; G ENSG00000156521 ENST00000287078 Transcript missense_variant 471/3644 471/1701 157/566 E/D gaA/gaC 1 -1 TYSND1 HGNC HGNC:28531 protein_coding YES CCDS31213.1 ENSP00000287078 Q2T9J0 UPI0000160C9B NM_173555.3 tolerated(0.45) benign(0) 1/4 PIRSF_domain:PIRSF037989,hmmpanther:PTHR21004 MODERATE 1 SNV 1 PASS GTT . . 70146116 TM9SF3 . GRCh38 chr10 96527504 96527504 + Splice_Region SNP G C C rs3789957 7316-3303 BS_0KKH9VKP G G c.1542-8C>G ENST00000371142 66 13 52 22 16 6 TM9SF3,splice_region_variant,,ENST00000371142,NM_020123.3;TM9SF3,non_coding_transcript_exon_variant,,ENST00000485093,; C ENSG00000077147 ENST00000371142 Transcript splice_region_variant,intron_variant rs3789957 1 -1 TM9SF3 HGNC HGNC:21529 protein_coding YES CCDS7450.1 ENSP00000360184 Q9HD45 A0A024QYS2 UPI000013684E NM_020123.3 12/14 0.3411 0.5403 0.8304 0.6471 0.7117 0.3923 0.6652 LOW 1 SNV 1 PASS GGG . . 0.6546 0.3707 0.5496 0.651 0.8291 0.6916 0.6752 0.6336 0.7134 96527504 OR8K5 . GRCh38 chr11 56160260 56160260 + Missense_Mutation SNP G G A rs145476036 7316-3303 BS_0KKH9VKP G G c.58C>T p.Arg20Trp p.R20W ENST00000313447 1/1 71 39 31 27 27 0 OR8K5,missense_variant,p.Arg20Trp,ENST00000313447,NM_001004058.2; A ENSG00000181752 ENST00000313447 Transcript missense_variant 58/924 58/924 20/307 R/W Cgg/Tgg rs145476036,COSM4419328 1 -1 OR8K5 HGNC HGNC:15315 protein_coding YES CCDS31521.1 ENSP00000323853 Q8NH50 UPI000004B231 NM_001004058.2 deleterious_low_confidence(0.02) benign(0.394) 1/1 hmmpanther:PTHR26452:SF60,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0.0004 0.002 0,1 MODERATE 1 SNV 0,1 PASS CGC . . 6.097e-05 0.0008117 0.0001826 56160260 MS4A5 . GRCh38 chr11 60430836 60430836 + Missense_Mutation SNP G G T 7316-3303 BS_0KKH9VKP G G c.194G>T p.Gly65Val p.G65V ENST00000300190 2/5 55 36 19 33 32 0 MS4A5,missense_variant,p.Gly65Val,ENST00000300190,NM_023945.2;MS4A5,missense_variant,p.Gly39Val,ENST00000528905,;MS4A5,intron_variant,,ENST00000528093,;MS4A5,intron_variant,,ENST00000534071,;MS4A5,missense_variant,p.Gly65Val,ENST00000533885,;MS4A5,intron_variant,,ENST00000531403,; T ENSG00000166930 ENST00000300190 Transcript missense_variant 280/722 194/603 65/200 G/V gGa/gTa COSM5697739 1 1 MS4A5 HGNC HGNC:13374 protein_coding YES CCDS7987.1 ENSP00000300190 Q9H3V2 UPI0000043670 NM_023945.2 deleterious(0) probably_damaging(1) 2/5 Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF54,Transmembrane_helices:TMhelix 1 MODERATE 1 SNV 1 1 PASS GGA . . 60430836 MRGPRF . GRCh38 chr11 69009876 69009876 + Missense_Mutation SNP G G A rs1481774308 7316-3303 BS_0KKH9VKP G G c.26C>T p.Ala9Val p.A9V ENST00000309099 2/3 85 40 32 31 27 0 MRGPRF,missense_variant,p.Ala9Val,ENST00000309099,NM_145015.4;MRGPRF,missense_variant,p.Ala9Val,ENST00000441623,NM_001098515.1;MRGPRF,missense_variant,p.Ala9Val,ENST00000320913,;MRGPRF-AS1,upstream_gene_variant,,ENST00000538407,;AP003071.3,downstream_gene_variant,,ENST00000562506,;MRGPRF-AS1,upstream_gene_variant,,ENST00000569428,;MRGPRF-AS1,upstream_gene_variant,,ENST00000569432,; A ENSG00000172935 ENST00000309099 Transcript missense_variant 409/2295 26/1032 9/343 A/V gCc/gTc rs1481774308 1 -1 MRGPRF HGNC HGNC:24828 protein_coding YES CCDS8188.1 ENSP00000309782 Q96AM1 A0A024R5F0 UPI000012F566 NM_145015.4 tolerated_low_confidence(0.74) benign(0.003) 2/3 Prints_domain:PR02112,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF3 MODERATE 1 SNV 1 PASS GGC . . 69009876 TRIM77 . GRCh38 chr11 89717513 89717513 + Nonsense_Mutation SNP G G T novel 7316-3303 BS_0KKH9VKP G G c.994G>T p.Gly332Ter p.G332* ENST00000398290 6/6 67 43 23 22 21 1 TRIM77,stop_gained,p.Gly332Ter,ENST00000398290,NM_001146162.1,NM_001271942.1;TRIM77,stop_gained,p.Gly138Ter,ENST00000534392,; T ENSG00000214414 ENST00000398290 Transcript stop_gained 994/1353 994/1353 332/450 G/* Gga/Tga 1 1 TRIM77 HGNC HGNC:34228 protein_coding YES CCDS60929.1 ENSP00000474003 I1YAP6 UPI00001607F2 NM_001146162.1,NM_001271942.1 6/6 Superfamily_domains:SSF49899,PROSITE_profiles:PS50188,hmmpanther:PTHR44030,hmmpanther:PTHR44030:SF8,Prints_domain:PR01407 HIGH 1 SNV 5 PASS GGG . . 89717513 C11orf88 . GRCh38 chr11 111536793 111536793 + Missense_Mutation SNP A A G novel 7316-3303 BS_0KKH9VKP A A c.557A>G p.Lys186Arg p.K186R ENST00000332814 7/7 80 45 35 33 33 0 C11orf88,missense_variant,p.Lys186Arg,ENST00000332814,NM_207430.2;C11orf88,missense_variant,p.Lys159Arg,ENST00000375618,NM_001100388.1;C11orf88,3_prime_UTR_variant,,ENST00000529167,;LAYN,upstream_gene_variant,,ENST00000375614,NM_178834.4;LAYN,upstream_gene_variant,,ENST00000375615,NM_001258390.1;LAYN,upstream_gene_variant,,ENST00000436913,NM_001258391.1;LAYN,upstream_gene_variant,,ENST00000525126,;LAYN,upstream_gene_variant,,ENST00000528924,;LAYN,upstream_gene_variant,,ENST00000530962,NM_001318799.1;LAYN,upstream_gene_variant,,ENST00000533265,;LAYN,upstream_gene_variant,,ENST00000533999,;LAYN,upstream_gene_variant,,ENST00000528102,;C11orf88,3_prime_UTR_variant,,ENST00000529661,;LAYN,upstream_gene_variant,,ENST00000525866,; G ENSG00000183644 ENST00000332814 Transcript missense_variant 557/795 557/591 186/196 K/R aAa/aGa 1 1 C11orf88 HGNC HGNC:25061 protein_coding YES CCDS41712.1 ENSP00000333845 Q6PI97 UPI00001D7746 NM_207430.2 tolerated(0.53) benign(0.11) 7/7 mobidb-lite,hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF61 MODERATE SNV 5 PASS AAA . . 111536793 KLRF2 . GRCh38 chr12 9895717 9895717 + Missense_Mutation SNP A A T novel 7316-3303 BS_0KKH9VKP A A c.508A>T p.Arg170Trp p.R170W ENST00000535540 6/6 81 33 48 33 33 0 KLRF2,missense_variant,p.Arg170Trp,ENST00000535540,NM_001190765.1;CLEC2A,downstream_gene_variant,,ENST00000339766,NM_207375.2; T ENSG00000256797 ENST00000535540 Transcript missense_variant 615/731 508/624 170/207 R/W Agg/Tgg 1 1 KLRF2 HGNC HGNC:37646 protein_coding YES CCDS53743.1 ENSP00000438244 D3W0D1 UPI0001CADE27 NM_001190765.1 deleterious(0.02) benign(0.019) 6/6 PDB-ENSP_mappings:4iop.B,PROSITE_profiles:PS50041,cd03593,hmmpanther:PTHR22800:SF147,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436 MODERATE 1 SNV 1 PASS CAG . . 9895717 DENND5B . GRCh38 chr12 31499598 31499598 + Splice_Region SNP A A G novel 7316-3303 BS_0KKH9VKP A A c.232+8T>C ENST00000536562 96 79 17 33 32 0 DENND5B,splice_region_variant,,ENST00000354285,;DENND5B,splice_region_variant,,ENST00000536562,NM_001308339.1;DENND5B,intron_variant,,ENST00000389082,NM_144973.3;DENND5B,upstream_gene_variant,,ENST00000546299,;DENND5B,intron_variant,,ENST00000545147,;DENND5B,intron_variant,,ENST00000544698,; G ENSG00000170456 ENST00000536562 Transcript splice_region_variant,intron_variant 1 -1 DENND5B HGNC HGNC:28338 protein_coding YES CCDS76542.1 ENSP00000444889 G3V1S3 UPI0000D621CB NM_001308339.1 3/22 LOW 1 SNV 2 PASS TAT . . 31499598 KMT2D . GRCh38 chr12 49041040 49041040 + Missense_Mutation SNP A A C novel 7316-3303 BS_0KKH9VKP A A c.6730T>G p.Phe2244Val p.F2244V ENST00000301067 31/54 91 72 15 33 31 1 KMT2D,missense_variant,p.Phe2244Val,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,; C ENSG00000167548 ENST00000301067 Transcript missense_variant 6730/19419 6730/16614 2244/5537 F/V Ttc/Gtc 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 deleterious(0) possibly_damaging(0.815) 31/54 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,mobidb-lite MODERATE 1 SNV 5 1 PASS AAT . . 49041040 ACACB . GRCh38 chr12 109264378 109264378 + Missense_Mutation SNP G G A rs374342222 7316-3303 BS_0KKH9VKP G G c.6934G>A p.Val2312Ile p.V2312I ENST00000338432 50/53 78 67 7 24 21 0 ACACB,missense_variant,p.Val2312Ile,ENST00000338432,;ACACB,missense_variant,p.Val2312Ile,ENST00000377848,NM_001093.3;ACACB,downstream_gene_variant,,ENST00000377854,;ACACB,3_prime_UTR_variant,,ENST00000538526,;ACACB,non_coding_transcript_exon_variant,,ENST00000537279,;,regulatory_region_variant,,ENSR00000057158,;,regulatory_region_variant,,ENSR00000270145,; A ENSG00000076555 ENST00000338432 Transcript missense_variant 7053/9360 6934/7377 2312/2458 V/I Gtc/Atc rs374342222 1 1 ACACB HGNC HGNC:85 protein_coding YES CCDS31898.1 ENSP00000341044 O00763 UPI0000DBEEFB tolerated(0.07) benign(0.015) 50/53 Gene3D:3.90.226.10,Pfam_domain:PF01039,PROSITE_profiles:PS50989,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF94,Superfamily_domains:SSF52096 0.0001163 MODERATE 1 SNV 1 PASS CGT . . 2.036e-05 6.581e-05 5.956e-05 8.991e-06 3.249e-05 109264378 ACAD10 . GRCh38 chr12 111709542 111709542 + Missense_Mutation SNP T T C novel 7316-3303 BS_0KKH9VKP T T c.548T>C p.Met183Thr p.M183T ENST00000455480 5/22 84 69 13 24 24 0 ACAD10,missense_variant,p.Met183Thr,ENST00000455480,NM_001136538.1;ACAD10,missense_variant,p.Met183Thr,ENST00000313698,NM_025247.5;ACAD10,missense_variant,p.Met183Thr,ENST00000549590,;ACAD10,intron_variant,,ENST00000515283,;ACAD10,upstream_gene_variant,,ENST00000507683,;ACAD10,upstream_gene_variant,,ENST00000552706,;ACAD10,non_coding_transcript_exon_variant,,ENST00000413681,;ACAD10,non_coding_transcript_exon_variant,,ENST00000502746,;ACAD10,non_coding_transcript_exon_variant,,ENST00000507135,;ACAD10,non_coding_transcript_exon_variant,,ENST00000509936,;ACAD10,upstream_gene_variant,,ENST00000514847,; C ENSG00000111271 ENST00000455480 Transcript missense_variant 725/4071 548/3273 183/1090 M/T aTg/aCg 1 1 ACAD10 HGNC HGNC:21597 protein_coding YES CCDS44973.1 ENSP00000389813 Q6JQN1 UPI000013F5E7 NM_001136538.1 tolerated(0.11) benign(0.005) 5/22 Gene3D:3.40.50.1000,Pfam_domain:PF13419,Prints_domain:PR00413,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF221,SFLDG01129,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01509,TIGRFAM_domain:TIGR02247,cd02603 MODERATE 1 SNV 1 PASS ATG . . 111709542 MED4 . GRCh38 chr13 48090420 48090421 + Splice_Region INS - - A rs769110681 7316-3303 BS_0KKH9VKP - - c.126-3dup ENST00000258648 32 24 6 18 16 0 MED4,splice_region_variant,,ENST00000258648,NM_014166.3;MED4,splice_region_variant,,ENST00000378586,NM_001270629.1;MED4,splice_region_variant,,ENST00000417167,; A ENSG00000136146 ENST00000258648 Transcript splice_region_variant,intron_variant rs769110681,TMP_ESP_13_48664557_48664558 1 -1 MED4 HGNC HGNC:17903 protein_coding YES CCDS9408.1 ENSP00000258648 Q9NPJ6 A0A024RDY7 UPI0000129871 NM_014166.3 1/6 0.05054 0.03223 LOW 1 insertion 1 PASS CTA . . 0.1631 0.1319 0.185 0.2854 0.1331 0.1312 0.1519 0.1887 0.1978 48090420 METTL3 . GRCh38 chr14 21500962 21500962 + Missense_Mutation SNP G G A novel 7316-3303 BS_0KKH9VKP G G c.1067C>T p.Thr356Ile p.T356I ENST00000298717 5/11 57 32 25 21 21 0 METTL3,missense_variant,p.Thr356Ile,ENST00000298717,NM_019852.4;METTL3,downstream_gene_variant,,ENST00000377543,;TOX4,downstream_gene_variant,,ENST00000448790,NM_001303523.1,NM_014828.3;TOX4,downstream_gene_variant,,ENST00000613569,;METTL3,missense_variant,p.Thr306Ile,ENST00000539760,;METTL3,3_prime_UTR_variant,,ENST00000543235,;METTL3,3_prime_UTR_variant,,ENST00000537163,;METTL3,3_prime_UTR_variant,,ENST00000544248,;METTL3,non_coding_transcript_exon_variant,,ENST00000544500,;METTL3,intron_variant,,ENST00000396522,;TOX4,downstream_gene_variant,,ENST00000455393,;METTL3,downstream_gene_variant,,ENST00000536201,;METTL3,downstream_gene_variant,,ENST00000538267,;METTL3,downstream_gene_variant,,ENST00000542054,;TOX4,downstream_gene_variant,,ENST00000613005,; A ENSG00000165819 ENST00000298717 Transcript missense_variant 1219/2015 1067/1743 356/580 T/I aCa/aTa 1 -1 METTL3 HGNC HGNC:17563 protein_coding YES CCDS32044.1 ENSP00000298717 Q86U44 UPI000006CD69 NM_019852.4 tolerated(0.44) benign(0.03) 5/11 PROSITE_profiles:PS51143,PROSITE_profiles:PS51563,hmmpanther:PTHR12829,hmmpanther:PTHR12829:SF2 MODERATE 1 SNV 1 PASS TGT . . 21500962 EML5 . GRCh38 chr14 88792433 88792434 + Frame_Shift_Del DEL CA CA - novel 7316-3303 BS_0KKH9VKP CA CA c.70_71del p.Cys24ProfsTer48 p.C24Pfs*48 ENST00000554922 1/44 65 50 13 29 29 0 EML5,frameshift_variant,p.Cys24ProfsTer48,ENST00000554922,NM_183387.2;EML5,frameshift_variant,p.Cys24ProfsTer48,ENST00000380664,;,regulatory_region_variant,,ENSR00000071730,; - ENSG00000165521 ENST00000554922 Transcript frameshift_variant 319-320/9570 70-71/5934 24/1977 C/X TGc/c 1 -1 EML5 HGNC HGNC:18197 protein_coding YES CCDS45148.1 ENSP00000451998 Q05BV3 UPI00001C0438 NM_183387.2 1/44 Pfam_domain:PF03451,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,Superfamily_domains:SSF50978 HIGH 1 deletion 5 PASS GGCAC . . 88792432 CATSPERB . GRCh38 chr14 91588080 91588080 + Splice_Site SNP T T C novel 7316-3303 BS_0KKH9VKP T T c.2957-2A>G p.X986_splice ENST00000256343 51 41 10 29 29 0 CATSPERB,splice_acceptor_variant,,ENST00000256343,NM_024764.3;CATSPERB,splice_acceptor_variant,,ENST00000557036,;CATSPERB,downstream_gene_variant,,ENST00000556429,; C ENSG00000133962 ENST00000256343 Transcript splice_acceptor_variant 1 -1 CATSPERB HGNC HGNC:20500 protein_coding YES CCDS32142.1 ENSP00000256343 Q9H7T0 UPI0000418DA1 NM_024764.3 24/26 HIGH 1 SNV 1 PASS CTA . . 91588080 ZNF423 . GRCh38 chr16 49730870 49730870 + Missense_Mutation SNP C C T novel 7316-3303 BS_0KKH9VKP C C c.178G>A p.Asp60Asn p.D60N ENST00000561648 4/9 80 65 14 12 12 0 ZNF423,missense_variant,p.Asp60Asn,ENST00000561648,NM_001330533.1;ZNF423,missense_variant,p.Asp60Asn,ENST00000262383,NM_015069.4;ZNF423,missense_variant,p.Asp55Asn,ENST00000568094,;ZNF423,5_prime_UTR_variant,,ENST00000563137,;ZNF423,5_prime_UTR_variant,,ENST00000562871,;ZNF423,5_prime_UTR_variant,,ENST00000562520,NM_001271620.2; T ENSG00000102935 ENST00000561648 Transcript missense_variant 479/7907 178/3855 60/1284 D/N Gac/Aac 1 -1 ZNF423 HGNC HGNC:16762 protein_coding YES CCDS32445.1 ENSP00000455426 Q2M1K9 UPI0000353ABC NM_001330533.1 tolerated_low_confidence(0.06) benign(0.048) 4/9 Gene3D:3.30.160.60,hmmpanther:PTHR44392,hmmpanther:PTHR44392:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS TCT . . 49730870 IRX3 . GRCh38 chr16 54284245 54284245 + Splice_Site SNP C C A novel 7316-3303 BS_0KKH9VKP C C c.1451+1G>T p.X484_splice ENST00000329734 56 43 11 30 30 0 IRX3,splice_donor_variant,,ENST00000329734,NM_024336.2;IRX3,splice_donor_variant,,ENST00000558054,;AC018553.2,upstream_gene_variant,,ENST00000637770,;IRX3,non_coding_transcript_exon_variant,,ENST00000558180,; A ENSG00000177508 ENST00000329734 Transcript splice_donor_variant 1 -1 IRX3 HGNC HGNC:14360 protein_coding YES CCDS10750.1 ENSP00000331608 P78415 UPI000019745F NM_024336.2 3/3 HIGH 1 SNV 1 PASS ACC . . 54284245 IRX3 . GRCh38 chr16 54284246 54284246 + Missense_Mutation SNP C C A novel 7316-3303 BS_0KKH9VKP C C c.1451G>T p.Arg484Leu p.R484L ENST00000329734 3/4 56 43 11 30 30 0 IRX3,missense_variant,p.Arg484Leu,ENST00000329734,NM_024336.2;IRX3,missense_variant,p.Gly47Cys,ENST00000558054,;AC018553.2,upstream_gene_variant,,ENST00000637770,;IRX3,non_coding_transcript_exon_variant,,ENST00000558180,; A ENSG00000177508 ENST00000329734 Transcript missense_variant,splice_region_variant 2164/2601 1451/1506 484/501 R/L cGg/cTg 1 -1 IRX3 HGNC HGNC:14360 protein_coding YES CCDS10750.1 ENSP00000331608 P78415 UPI000019745F NM_024336.2 deleterious(0.01) probably_damaging(0.972) 3/4 hmmpanther:PTHR11211:SF14,hmmpanther:PTHR11211 MODERATE 1 SNV 1 PASS CCG . . 54284246 VPS53 . GRCh38 chr17 553435 553435 + Missense_Mutation SNP C C T novel 7316-3303 BS_0KKH9VKP C C c.1732G>A p.Asp578Asn p.D578N ENST00000437048 16/22 75 59 16 27 27 0 VPS53,missense_variant,p.Asp578Asn,ENST00000437048,NM_001128159.2;VPS53,missense_variant,p.Asp549Asn,ENST00000291074,NM_018289.3;VPS53,missense_variant,p.Asp578Asn,ENST00000571805,;VPS53,missense_variant,p.Asp301Asn,ENST00000401468,;VPS53,intron_variant,,ENST00000574029,;AC015853.1,downstream_gene_variant,,ENST00000574008,;VPS53,non_coding_transcript_exon_variant,,ENST00000576149,;VPS53,missense_variant,p.Asp530Asn,ENST00000389040,;VPS53,3_prime_UTR_variant,,ENST00000573028,;VPS53,non_coding_transcript_exon_variant,,ENST00000572607,; T ENSG00000141252 ENST00000437048 Transcript missense_variant 1879/13106 1732/2499 578/832 D/N Gat/Aat 1 -1 VPS53 HGNC HGNC:25608 protein_coding YES CCDS45558.1 ENSP00000401435 Q5VIR6 UPI0000DBEF01 NM_001128159.2 tolerated(0.08) possibly_damaging(0.597) 16/22 hmmpanther:PTHR12820,Gene3D:1.20.5.340 MODERATE 1 SNV 1 1 PASS TCC . . 553435 TP53 . GRCh38 chr17 7674256 7674256 + Missense_Mutation SNP T T C 7316-3303 BS_0KKH9VKP T T c.707A>G p.Tyr236Cys p.Y236C ENST00000269305 7/11 59 26 29 22 19 0 TP53,missense_variant,p.Tyr236Cys,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Tyr236Cys,ENST00000420246,;TP53,missense_variant,p.Tyr197Cys,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Tyr197Cys,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Tyr236Cys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Tyr197Cys,ENST00000610538,;TP53,missense_variant,p.Tyr236Cys,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,missense_variant,p.Tyr197Cys,ENST00000620739,;TP53,missense_variant,p.Tyr236Cys,ENST00000445888,;TP53,missense_variant,p.Tyr197Cys,ENST00000619485,;TP53,missense_variant,p.Tyr104Cys,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,missense_variant,p.Tyr77Cys,ENST00000618944,;TP53,missense_variant,p.Tyr104Cys,ENST00000504290,;TP53,missense_variant,p.Tyr77Cys,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,missense_variant,p.Tyr104Cys,ENST00000504937,;TP53,missense_variant,p.Tyr77Cys,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,missense_variant,p.Tyr236Cys,ENST00000359597,;TP53,missense_variant,p.Tyr225Cys,ENST00000615910,;TP53,missense_variant,p.Tyr236Cys,ENST00000413465,;TP53,missense_variant,p.Tyr104Cys,ENST00000509690,;TP53,missense_variant,p.Tyr143Cys,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.Tyr197Cys,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,; C ENSG00000141510 ENST00000269305 Transcript missense_variant 897/2579 707/1182 236/393 Y/C tAc/tGc CM004907,TP53_g.13344A>G,COSM4766270,COSM4766269,COSM44693,COSM3958814,COSM3958813,COSM3958812,COSM3958811,COSM3958810,COSM3958809,COSM3773303,COSM1646851,COSM1172472,COSM1172471,COSM1172470,COSM116674,COSM116673,COSM116672,COSM10731 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 deleterious(0) probably_damaging(0.99) 7/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 MODERATE 1 SNV 1 1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS GTA . . 7674256 CTC1 . GRCh38 chr17 8229134 8229134 + Splice_Region SNP G G A novel 7316-3303 BS_0KKH9VKP G G c.3221+8C>T ENST00000315684 88 77 11 27 27 0 CTC1,splice_region_variant,,ENST00000315684,NM_025099.5;CTC1,intron_variant,,ENST00000580299,;CTC1,intron_variant,,ENST00000581729,;CTC1,splice_region_variant,,ENST00000581671,;CTC1,splice_region_variant,,ENST00000578441,;CTC1,splice_region_variant,,ENST00000578537,;CTC1,splice_region_variant,,ENST00000643543,;CTC1,intron_variant,,ENST00000449476,;CTC1,downstream_gene_variant,,ENST00000578240,;CTC1,downstream_gene_variant,,ENST00000581967,;CTC1,downstream_gene_variant,,ENST00000583254,;CTC1,downstream_gene_variant,,ENST00000584439,; A ENSG00000178971 ENST00000315684 Transcript splice_region_variant,intron_variant 1 -1 CTC1 HGNC HGNC:26169 protein_coding YES CCDS42259.1 ENSP00000313759 Q2NKJ3 UPI000041A9A9 NM_025099.5 20/22 LOW 1 SNV 1 1 PASS TGC . . 8229134 NF1 . GRCh38 chr17 31327694 31327694 + Nonsense_Mutation SNP C C T 7316-3303 BS_0KKH9VKP C C c.5464C>T p.Gln1822Ter p.Q1822* ENST00000358273 38/58 96 63 31 25 25 0 NF1,stop_gained,p.Gln1822Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Gln1801Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Gln1467Ter,ENST00000456735,;NF1,stop_gained,p.Gln10Ter,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000479536,; T ENSG00000196712 ENST00000358273 Transcript stop_gained 5847/12425 5464/8520 1822/2839 Q/* Cag/Tag CM062903,COSM3515877,COSM3515876 1 1 NF1 HGNC HGNC:7765 protein_coding YES CCDS42292.1 ENSP00000351015 P21359 UPI000012FFAE NM_001042492.2 38/58 cd13313,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF60 0,1,1 HIGH 1 SNV 1 1,1,1 1 PASS CCA . . 31327694 KRTAP4-7 . GRCh38 chr17 41084254 41084254 + Missense_Mutation SNP C C A novel 7316-3303 BS_0KKH9VKP C C c.48C>A p.Ser16Arg p.S16R ENST00000391417 1/1 88 62 26 20 19 0 KRTAP4-7,missense_variant,p.Ser16Arg,ENST00000391417,NM_033061.3;KRTAP4-7,missense_variant,p.Ser16Arg,ENST00000621138,;,regulatory_region_variant,,ENSR00000094192,; A ENSG00000240871 ENST00000391417 Transcript missense_variant 105/992 48/468 16/155 S/R agC/agA 1 1 KRTAP4-7 HGNC HGNC:18898 protein_coding YES CCDS45673.1 ENSP00000375236 Q9BYR0 UPI00001B0238 NM_033061.3 deleterious(0.01) benign(0.025) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF137 MODERATE 1 SNV PASS GCC . . 41084254 ARHGAP27 . GRCh38 chr17 45429976 45429976 + Missense_Mutation SNP C C T novel 7316-3303 BS_0KKH9VKP C C c.304G>A p.Ala102Thr p.A102T ENST00000428638 1/17 74 33 37 32 30 0 ARHGAP27,missense_variant,p.Ala102Thr,ENST00000428638,NM_001282290.1;ARHGAP27,missense_variant,p.Ala102Thr,ENST00000532891,;ARHGAP27,missense_variant,p.Ala102Thr,ENST00000528273,;ARHGAP27,missense_variant,p.Ala102Thr,ENST00000290470,NM_174919.3;ARHGAP27,upstream_gene_variant,,ENST00000376922,NM_199282.2;ARHGAP27,non_coding_transcript_exon_variant,,ENST00000531735,;ARHGAP27,intron_variant,,ENST00000527678,;ARHGAP27,upstream_gene_variant,,ENST00000524404,; T ENSG00000159314 ENST00000428638 Transcript missense_variant 322/4242 304/2670 102/889 A/T Gcg/Acg 1 -1 ARHGAP27 HGNC HGNC:31813 protein_coding YES CCDS74082.1 ENSP00000403323 Q6ZUM4 UPI0001AE66DB NM_001282290.1 tolerated(0.5) benign(0.001) 1/17 hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF2 MODERATE 1 SNV 5 PASS GCC . . 45429976 SCN4A . GRCh38 chr17 63945351 63945352 + Splice_Region DEL CA CA - novel 7316-3303 BS_0KKH9VKP CA CA c.3720+8_3720+9del ENST00000435607 94 79 12 29 29 0 SCN4A,splice_region_variant,,ENST00000435607,NM_000334.4;SCN4A,downstream_gene_variant,,ENST00000584310,; - ENSG00000007314 ENST00000435607 Transcript splice_region_variant,intron_variant 1 -1 SCN4A HGNC HGNC:10591 protein_coding YES CCDS45761.1 ENSP00000396320 P35499 UPI0000201254 NM_000334.4 19/23 LOW 1 deletion 1 1 PASS GTCAC . . 63945350 QRICH2 . GRCh38 chr17 76292181 76292181 + Missense_Mutation SNP T T A 7316-3303 BS_0KKH9VKP T T c.2048A>T p.His683Leu p.H683L ENST00000262765 4/19 102 74 7 31 28 0 QRICH2,missense_variant,p.His849Leu,ENST00000636395,;QRICH2,missense_variant,p.His683Leu,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; A ENSG00000129646 ENST00000262765 Transcript missense_variant 2228/5357 2048/4992 683/1663 H/L cAt/cTt COSM5654343 1 -1 QRICH2 HGNC HGNC:25326 protein_coding YES CCDS32741.1 ENSP00000262765 Q9H0J4 UPI000006FECD NM_032134.2 tolerated(0.66) benign(0) 4/19 1 MODERATE 1 SNV 1 1 PASS ATG . . 76292181 CARD14 . GRCh38 chr17 80189840 80189840 + Missense_Mutation SNP C C T rs145167842 7316-3303 BS_0KKH9VKP C C c.931C>T p.Arg311Trp p.R311W ENST00000573882 8/23 102 65 37 27 27 0 CARD14,missense_variant,p.Arg311Trp,ENST00000573882,;CARD14,missense_variant,p.Arg311Trp,ENST00000344227,NM_024110.4;CARD14,missense_variant,p.Arg311Trp,ENST00000570421,NM_001257970.1;CARD14,non_coding_transcript_exon_variant,,ENST00000573754,;CARD14,upstream_gene_variant,,ENST00000574148,;CARD14,missense_variant,p.Arg311Trp,ENST00000575500,;CARD14,missense_variant,p.Arg108Trp,ENST00000571450,NM_052819.2;CARD14,non_coding_transcript_exon_variant,,ENST00000571861,;CARD14,downstream_gene_variant,,ENST00000572838,;CARD14,upstream_gene_variant,,ENST00000575666,; T ENSG00000141527 ENST00000573882 Transcript missense_variant 1467/4537 931/3015 311/1004 R/W Cgg/Tgg rs145167842,COSM4994779,COSM4994778 1 1 CARD14 HGNC HGNC:16446 protein_coding YES CCDS11768.1 ENSP00000458715 Q9BXL6 UPI000013D81B deleterious(0) possibly_damaging(0.732) 8/23 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559:SF1,hmmpanther:PTHR14559 benign 0,1,1 MODERATE 1 SNV 5 1,1,1 1 PASS GCG . . 0.0001319 0.0002498 0.001115 9.869e-05 0.0004167 80189840 LRRC30 . GRCh38 chr18 7231200 7231200 + Missense_Mutation SNP C C T rs768726518 7316-3303 BS_0KKH9VKP C C c.62C>T p.Thr21Met p.T21M ENST00000383467 1/1 92 84 8 37 37 0 LRRC30,missense_variant,p.Thr21Met,ENST00000383467,NM_001105581.1; T ENSG00000206422 ENST00000383467 Transcript missense_variant 76/923 62/906 21/301 T/M aCg/aTg rs768726518 1 1 LRRC30 HGNC HGNC:30219 protein_coding YES CCDS42409.1 ENSP00000372959 A6NM36 UPI00001D7ABB NM_001105581.1 tolerated(0.23) benign(0.022) 1/1 hmmpanther:PTHR44716,hmmpanther:PTHR44716:SF1 MODERATE 1 SNV PASS ACG . . 8.547e-05 0.00116 0.0001827 7231200 PSMA8 . GRCh38 chr18 26144568 26144568 + Nonsense_Mutation SNP C C T rs376403017 7316-3303 BS_0KKH9VKP C C c.112C>T p.Arg38Ter p.R38* ENST00000308268 2/7 59 26 32 24 24 0 PSMA8,stop_gained,p.Arg38Ter,ENST00000308268,NM_144662.2;PSMA8,stop_gained,p.Arg38Ter,ENST00000343848,NM_001025097.1;PSMA8,stop_gained,p.Arg12Ter,ENST00000612461,NM_001308188.1;PSMA8,stop_gained,p.Arg38Ter,ENST00000415576,NM_001025096.1;PSMA8,synonymous_variant,p.Phe59=,ENST00000538664,; T ENSG00000154611 ENST00000308268 Transcript stop_gained 201/1804 112/771 38/256 R/* Cga/Tga rs376403017,COSM183096 1 1 PSMA8 HGNC HGNC:22985 protein_coding YES CCDS32808.1 ENSP00000311121 Q8TAA3 UPI000013ECFF NM_144662.2 2/7 Gene3D:3.60.20.10,Pfam_domain:PF00227,PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF47,Superfamily_domains:SSF56235,cd03755 0,1 HIGH 1 SNV 1 0,1 PASS TCG . . 2.033e-05 0.00029 26144568 GALNT1 . GRCh38 chr18 35692328 35692329 + Splice_Region DEL AT AT - rs201969184 7316-3303 BS_0KKH9VKP AT AT c.1299+22_1299+23del ENST00000269195 72 53 8 21 21 0 GALNT1,splice_region_variant,,ENST00000269195,NM_020474.3;GALNT1,splice_region_variant,,ENST00000590654,;GALNT1,intron_variant,,ENST00000589189,; - ENSG00000141429 ENST00000269195 Transcript splice_region_variant,intron_variant rs201969184,COSM1721977 1 1 GALNT1 HGNC HGNC:4123 protein_coding YES CCDS11915.1 ENSP00000269195 Q10472 A0A024RC48 UPI00001311FC NM_020474.3 8/10 0.1763 0.2003 0,1 LOW 1 deletion 1 14 0,1 PASS AAATA . . 0.1212 0.1145 0.1078 0.0933 0.1071 0.1211 0.1294 0.09838 0.1286 35692327 COL5A3 . GRCh38 chr19 10003576 10003576 + Missense_Mutation SNP C C G rs61742765 7316-3303 BS_0KKH9VKP C C c.838G>C p.Ala280Pro p.A280P ENST00000264828 6/67 63 22 40 33 28 5 COL5A3,missense_variant,p.Ala280Pro,ENST00000264828,NM_015719.3; G ENSG00000080573 ENST00000264828 Transcript missense_variant 924/6174 838/5238 280/1745 A/P Gca/Cca rs61742765 1 -1 COL5A3 HGNC HGNC:14864 protein_coding YES CCDS12222.1 ENSP00000264828 P25940 UPI00002032A3 NM_015719.3 tolerated(0.35) benign(0) 6/67 mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF567 0.0984 0.0182 0.1297 0.0169 0.1839 0.181 0.05107 0.1991 MODERATE 1 SNV 1 PASS GCG . . 0.1549 0.04339 0.09273 0.1889 0.006204 0.1546 0.1935 0.1718 0.2081 10003576 WDR87 . GRCh38 chr19 37888792 37888793 + Frame_Shift_Ins INS - - T rs759585037 7316-3303 BS_0KKH9VKP - - c.4878dup p.Arg1627ThrfsTer40 p.R1627Tfs*40 ENST00000447313 6/6 81 60 13 26 25 0 WDR87,frameshift_variant,p.Arg1627ThrfsTer40,ENST00000447313,NM_001291088.1;WDR87,frameshift_variant,p.Arg1588ThrfsTer40,ENST00000303868,NM_031951.4;,regulatory_region_variant,,ENSR00000288280,; T ENSG00000171804 ENST00000447313 Transcript frameshift_variant 5039-5040/9009 4878-4879/8739 1626-1627/2912 -/X -/A rs759585037 1 -1 WDR87 HGNC HGNC:29934 protein_coding YES CCDS74356.1 ENSP00000405012 E7ESW6 UPI0003EAEFEF NM_001291088.1 6/6 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR42968:SF9,hmmpanther:PTHR42968,Gene3D:1.20.140.50 HIGH 1 insertion 2 PASS CGT . . 0.0003161 0.0009186 0.002182 9.769e-05 0.000103 4.387e-05 37888792 SPRED3 . GRCh38 chr19 38392224 38392226 + In_Frame_Del DEL CCT CCT - rs151129136 7316-3303 BS_0KKH9VKP CCT CCT c.381_383del p.Ser128del p.S128del ENST00000338502 3/5 108 92 9 33 27 0 SPRED3,inframe_deletion,p.Ser128del,ENST00000338502,NM_001042522.2;SPRED3,inframe_deletion,p.Ser172del,ENST00000587013,;SPRED3,inframe_deletion,p.Ser128del,ENST00000586301,;SPRED3,inframe_deletion,p.Ser128del,ENST00000587947,;GGN,upstream_gene_variant,,ENST00000334928,NM_152657.3;GGN,upstream_gene_variant,,ENST00000586599,;GGN,upstream_gene_variant,,ENST00000587676,;SPRED3,non_coding_transcript_exon_variant,,ENST00000587564,;GGN,upstream_gene_variant,,ENST00000591809,;SPRED3,inframe_deletion,p.Ser97del,ENST00000586958,;SPRED3,non_coding_transcript_exon_variant,,ENST00000590962,;GGN,upstream_gene_variant,,ENST00000585737,; - ENSG00000188766 ENST00000338502 Transcript inframe_deletion 462-464/4778 359-361/1233 120-121/410 PS/P cCCTcc/ccc rs151129136,TMP_ESP_19_38882864_38882866,COSM1481004,COSM1481003 1 1 SPRED3 HGNC HGNC:31041 protein_coding YES CCDS42560.1 ENSP00000345405 Q2MJR0 UPI000040BCE3 NM_001042522.2 3/5 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11202:SF19,hmmpanther:PTHR11202 0.1055 0.1304 0,0,1,1 MODERATE 1 deletion 1 22 0,0,1,1 PASS CCCCTC . . 0.06435 0.05357 0.07972 0.08667 0.06797 0.05943 0.05736 0.06995 0.07716 38392223 MAP4K1 . GRCh38 chr19 38608029 38608029 + Missense_Mutation SNP C C T rs529903264 7316-3303 BS_0KKH9VKP C C c.1070G>A p.Arg357His p.R357H ENST00000591517 15/32 83 57 24 25 23 0 MAP4K1,missense_variant,p.Arg357His,ENST00000591517,NM_007181.5;MAP4K1,missense_variant,p.Arg353His,ENST00000589130,;MAP4K1,missense_variant,p.Arg357His,ENST00000396857,NM_001042600.2;MAP4K1,missense_variant,p.Arg35His,ENST00000591921,;MAP4K1,intron_variant,,ENST00000586296,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000589002,;MAP4K1,3_prime_UTR_variant,,ENST00000585583,;MAP4K1,downstream_gene_variant,,ENST00000591707,;MAP4K1,downstream_gene_variant,,ENST00000592888,; T ENSG00000104814 ENST00000591517 Transcript missense_variant 1099/2700 1070/2502 357/833 R/H cGc/cAc rs529903264 1 -1 MAP4K1 HGNC HGNC:6863 protein_coding YES CCDS59385.1 ENSP00000465039 Q92918 UPI00000747ED NM_007181.5 tolerated(0.64) benign(0) 15/32 Gene3D:1.10.510.10,PIRSF_domain:PIRSF038172,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF88,mobidb-lite 0.0002 0.001 MODERATE 1 SNV 1 PASS GCG . . 5.984e-05 0.0004777 38608029 CEACAM5 . GRCh38 chr19 41708742 41708742 + Missense_Mutation SNP C C A 7316-3303 BS_0KKH9VKP C C c.11C>A p.Pro4His p.P4H ENST00000221992 1/10 109 88 19 30 29 0 CEACAM5,missense_variant,p.Pro4His,ENST00000221992,NM_004363.5,NM_001291484.2;CEACAM5,missense_variant,p.Pro4His,ENST00000398599,NM_001308398.1;CEACAM5,missense_variant,p.Pro4His,ENST00000405816,;CEACAM5,missense_variant,p.Pro4His,ENST00000617332,;CEACAM5,missense_variant,p.Pro4His,ENST00000615021,;CEACAM5,missense_variant,p.Pro4His,ENST00000616453,;AC243967.1,missense_variant,p.Pro4His,ENST00000598976,;AC243967.1,missense_variant,p.Pro4His,ENST00000435837,;CEACAM5,upstream_gene_variant,,ENST00000595113,;CEACAM5,upstream_gene_variant,,ENST00000595403,;CEACAM7,upstream_gene_variant,,ENST00000599715,;CEACAM5,non_coding_transcript_exon_variant,,ENST00000596606,;CEACAM5,non_coding_transcript_exon_variant,,ENST00000460121,; A ENSG00000105388 ENST00000221992 Transcript missense_variant 125/2874 11/2109 4/702 P/H cCc/cAc COSM5389877 1 1 CEACAM5 HGNC HGNC:1817 protein_coding YES CCDS12584.1 ENSP00000221992 P06731 UPI000003AE4C NM_004363.5,NM_001291484.2 tolerated(0.06) probably_damaging(0.987) 1/10 hmmpanther:PTHR44337,hmmpanther:PTHR44337:SF1,Cleavage_site_(Signalp):SignalP-noTM 1 MODERATE 1 SNV 1 1 PASS CCC . . 41708742 MEGF8 . GRCh38 chr19 42356914 42356914 + Missense_Mutation SNP C C T rs753919019 7316-3303 BS_0KKH9VKP C C c.4763C>T p.Thr1588Ile p.T1588I ENST00000251268 27/42 105 73 31 44 44 0 MEGF8,missense_variant,p.Thr1521Ile,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Thr1588Ile,ENST00000251268,NM_001271938.1;MEGF8,5_prime_UTR_variant,,ENST00000378073,;MEGF8,upstream_gene_variant,,ENST00000598762,;MEGF8,downstream_gene_variant,,ENST00000593840,; T ENSG00000105429 ENST00000251268 Transcript missense_variant 4763/9549 4763/8538 1588/2845 T/I aCc/aTc rs753919019 1 1 MEGF8 HGNC HGNC:3233 protein_coding YES CCDS62693.1 ENSP00000251268 Q7Z7M0 UPI00005788D1 NM_001271938.1 deleterious(0) probably_damaging(0.998) 27/42 Gene3D:2.130.10.80,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287,Superfamily_domains:SSF117281 MODERATE 1 SNV 5 1 PASS ACC . . 42356914 LMTK3 . GRCh38 chr19 48493876 48493896 + In_Frame_Del DEL CGGGGCCCCGCGGCCCCGCCG CGGGGCCCCGCGGCCCCGCCG - novel 7316-3303 BS_0KKH9VKP CGGGGCCCCGCGGCCCCGCCG CGGGGCCCCGCGGCCCCGCCG c.3977_3997del p.Ala1326_Pro1332del p.A1326_P1332del ENST00000270238 13/16 119 104 15 30 30 0 LMTK3,inframe_deletion,p.Ala1297_Pro1303del,ENST00000600059,;LMTK3,inframe_deletion,p.Ala1326_Pro1332del,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; - ENSG00000142235 ENST00000270238 Transcript inframe_deletion 3977-3997/4972 3977-3997/4470 1326-1333/1489 AAGPRGPG/G gCGGCGGGGCCGCGGGGCCCCGgg/ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 13/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 deletion 1 PASS CCCGGGGCCCCGCGGCCCCGCCGC . . 48493875 LILRA1 . GRCh38 chr19 54595932 54595932 + Missense_Mutation SNP G G A rs149029653 7316-3303 BS_0KKH9VKP G G c.955G>A p.Ala319Thr p.A319T ENST00000251372 6/10 119 102 14 39 39 0 LILRA1,missense_variant,p.Ala319Thr,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; A ENSG00000104974 ENST00000251372 Transcript missense_variant 1137/1910 955/1470 319/489 A/T Gca/Aca rs149029653,COSM4768465 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(0.56) benign(0.056) 6/10 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00409,Superfamily_domains:SSF48726 0.0034 0.0106 0.001 0.001 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.0007117 0.009415 0.0004178 0.0003482 6.377e-05 0.000184 0.0002607 54595932 PTPRH . GRCh38 chr19 55205463 55205463 + Missense_Mutation SNP C C T 7316-3303 BS_0KKH9VKP C C c.482G>A p.Gly161Asp p.G161D ENST00000376350 4/20 99 68 29 28 28 0 PTPRH,missense_variant,p.Gly161Asp,ENST00000376350,NM_002842.4;PTPRH,intron_variant,,ENST00000263434,NM_001161440.2;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;PTPRH,non_coding_transcript_exon_variant,,ENST00000586852,;PTPRH,non_coding_transcript_exon_variant,,ENST00000586310,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588370,;PTPRH,downstream_gene_variant,,ENST00000587662,; T ENSG00000080031 ENST00000376350 Transcript missense_variant 505/3877 482/3348 161/1115 G/D gGc/gAc COSM1494433 1 -1 PTPRH HGNC HGNC:9672 protein_coding YES CCDS33110.1 ENSP00000365528 Q9HD43 UPI000052D443 NM_002842.4 tolerated(0.44) benign(0.023) 4/20 cd00063,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265,PROSITE_profiles:PS50853,hmmpanther:PTHR19134:SF297,hmmpanther:PTHR19134:SF297,hmmpanther:PTHR19134,hmmpanther:PTHR19134 1 MODERATE 1 SNV 1 1 PASS GCC . . 55205463 ZIK1 . GRCh38 chr19 57590955 57590955 + Missense_Mutation SNP G G T novel 7316-3303 BS_0KKH9VKP G G c.1144G>T p.Gly382Cys p.G382C ENST00000597850 4/4 103 87 9 23 22 0 ZIK1,missense_variant,p.Gly382Cys,ENST00000597850,NM_001010879.3;ZIK1,missense_variant,p.Gly369Cys,ENST00000536878,NM_001321145.1;ZIK1,missense_variant,p.Gly327Cys,ENST00000599456,NM_001321146.1;ZIK1,3_prime_UTR_variant,,ENST00000307468,;ZIK1,downstream_gene_variant,,ENST00000597219,;ZIK1,downstream_gene_variant,,ENST00000598689,;ZIK1,downstream_gene_variant,,ENST00000600053,;ZIK1,downstream_gene_variant,,ENST00000598726,; T ENSG00000171649 ENST00000597850 Transcript missense_variant 1359/4181 1144/1464 382/487 G/C Ggc/Tgc 1 1 ZIK1 HGNC HGNC:33104 protein_coding YES CCDS33135.1 ENSP00000472867 Q3SY52 UPI00001609B2 NM_001010879.3 tolerated(0.06) benign(0.104) 4/4 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF617,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TGG . . 57590955 ACTR5 . GRCh38 chr20 38748659 38748659 + Missense_Mutation SNP T T G novel 7316-3303 BS_0KKH9VKP T T c.181T>G p.Phe61Val p.F61V ENST00000243903 1/9 106 89 16 23 22 1 ACTR5,missense_variant,p.Phe61Val,ENST00000243903,NM_024855.3;,regulatory_region_variant,,ENSR00000137036,; G ENSG00000101442 ENST00000243903 Transcript missense_variant 218/2565 181/1824 61/607 F/V Ttc/Gtc 1 1 ACTR5 HGNC HGNC:14671 protein_coding YES CCDS13308.1 ENSP00000243903 Q9H9F9 UPI000006F9EF NM_024855.3 deleterious(0) benign(0.393) 1/9 cd00012,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF16,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067 MODERATE 1 SNV 1 PASS GTT . . 38748659 SLC12A5 . GRCh38 chr20 46021876 46021876 + Missense_Mutation SNP A A C novel 7316-3303 BS_0KKH9VKP A A c.111A>C p.Glu37Asp p.E37D ENST00000454036 1/26 78 62 14 27 20 6 SLC12A5,missense_variant,p.Glu37Asp,ENST00000454036,NM_001134771.1;SLC12A5,missense_variant,p.Glu37Asp,ENST00000626701,;SLC12A5,missense_variant,p.Glu13Asp,ENST00000413737,;SLC12A5,missense_variant,p.Glu37Asp,ENST00000628272,;SLC12A5-AS1,non_coding_transcript_exon_variant,,ENST00000535913,;SLC12A5-AS1,upstream_gene_variant,,ENST00000419897,;SLC12A5,non_coding_transcript_exon_variant,,ENST00000428198,;SLC12A5,upstream_gene_variant,,ENST00000626695,;,regulatory_region_variant,,ENSR00000137744,; C ENSG00000124140 ENST00000454036 Transcript missense_variant 187/3593 111/3420 37/1139 E/D gaA/gaC 1 1 SLC12A5 HGNC HGNC:13818 protein_coding YES CCDS46610.1 ENSP00000387694 Q9H2X9 UPI00015F4605 NM_001134771.1 tolerated(0.53) benign(0) 1/26 mobidb-lite MODERATE SNV 5 1 PASS AAG . . 46021876 PTGIS . GRCh38 chr20 49524182 49524182 + Missense_Mutation SNP G G A novel 7316-3303 BS_0KKH9VKP G G c.731C>T p.Ala244Val p.A244V ENST00000244043 6/10 79 59 18 34 33 0 PTGIS,missense_variant,p.Ala244Val,ENST00000244043,NM_000961.3;PTGIS,non_coding_transcript_exon_variant,,ENST00000478971,;,regulatory_region_variant,,ENSR00000298810,; A ENSG00000124212 ENST00000244043 Transcript missense_variant 761/5579 731/1503 244/500 A/V gCc/gTc 1 -1 PTGIS HGNC HGNC:9603 protein_coding YES CCDS13419.1 ENSP00000244043 Q16647 UPI00001328DF NM_000961.3 tolerated(0.19) benign(0.084) 6/10 PDB-ENSP_mappings:2iag.A,PDB-ENSP_mappings:2iag.B,PDB-ENSP_mappings:3b6h.A,PDB-ENSP_mappings:3b6h.B,hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF4,PIRSF_domain:PIRSF500628,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Superfamily_domains:SSF48264 MODERATE 1 SNV 1 1 PASS GGC . . 49524182 TMPRSS2 . GRCh38 chr21 41494539 41494539 + Nonsense_Mutation SNP C C A 7316-3303 BS_0KKH9VKP C C c.166G>T p.Gly56Ter p.G56* ENST00000398585 3/14 72 54 17 29 28 0 TMPRSS2,stop_gained,p.Gly56Ter,ENST00000398585,NM_001135099.1;TMPRSS2,stop_gained,p.Gly19Ter,ENST00000332149,NM_005656.3;TMPRSS2,stop_gained,p.Gly19Ter,ENST00000454499,;TMPRSS2,stop_gained,p.Gly19Ter,ENST00000458356,;TMPRSS2,stop_gained,p.Gly19Ter,ENST00000424093,;TMPRSS2,stop_gained,p.Gly19Ter,ENST00000455813,;TMPRSS2,intron_variant,,ENST00000463138,;TMPRSS2,intron_variant,,ENST00000497881,; A ENSG00000184012 ENST00000398585 Transcript stop_gained 227/3240 166/1590 56/529 G/* Gga/Tga COSM6094610,COSM6094609 1 -1 TMPRSS2 HGNC HGNC:11876 protein_coding YES CCDS54486.1 ENSP00000381588 O15393 UPI00019D3EE0 NM_001135099.1 3/14 hmmpanther:PTHR44647 1,1 HIGH 1 SNV 2 1,1 1 PASS CCA . . 41494539 PRDM15 . GRCh38 chr21 41801255 41801257 + In_Frame_Del DEL CTG CTG - rs749735986 7316-3303 BS_0KKH9VKP CTG CTG c.4507_4509del p.Gln1503del p.Q1503del ENST00000269844 31/31 80 66 5 33 30 0 PRDM15,inframe_deletion,p.Gln1194del,ENST00000422911,NM_001282934.1;PRDM15,inframe_deletion,p.Gln1174del,ENST00000398548,NM_001040424.2;PRDM15,inframe_deletion,p.Gln1137del,ENST00000447207,;PRDM15,inframe_deletion,p.Gln1503del,ENST00000269844,NM_022115.4;PRDM15,non_coding_transcript_exon_variant,,ENST00000470586,;PRDM15,downstream_gene_variant,,ENST00000465955,;PRDM15,downstream_gene_variant,,ENST00000477633,;PRDM15,downstream_gene_variant,,ENST00000495217,;PRDM15,inframe_deletion,p.Gln1503del,ENST00000433067,;PRDM15,inframe_deletion,p.Gln1137del,ENST00000447016,;PRDM15,3_prime_UTR_variant,,ENST00000449395,;PRDM15,3_prime_UTR_variant,,ENST00000441787,;PRDM15,non_coding_transcript_exon_variant,,ENST00000486812,; - ENSG00000141956 ENST00000269844 Transcript inframe_deletion 4618-4620/4881 4507-4509/4524 1503/1507 Q/- CAG/- rs749735986,COSM5858657,COSM5858656 1 -1 PRDM15 HGNC HGNC:13999 protein_coding YES CCDS13676.1 ENSP00000269844 P57071 UPI0000456FFA NM_022115.4 31/31 hmmpanther:PTHR45358,mobidb-lite,Low_complexity_(Seg):seg 0.01225 0.01171 0,1,1 MODERATE 1 deletion 1 0,1,1 PASS ATCTGC . . 0.0002318 7.444e-05 0.0003109 0.0008215 0.000456 0.0002038 0.0003173 41801254 MED15 . GRCh38 chr22 20507700 20507700 + Missense_Mutation SNP A A G novel 7316-3303 BS_0KKH9VKP A A c.22A>G p.Thr8Ala p.T8A ENST00000263205 1/18 112 78 33 29 27 0 MED15,missense_variant,p.Thr8Ala,ENST00000263205,NM_001003891.2;MED15,missense_variant,p.Thr8Ala,ENST00000292733,NM_001293234.1,NM_015889.4;MED15,missense_variant,p.Thr8Ala,ENST00000382974,NM_001293236.1;MED15,5_prime_UTR_variant,,ENST00000406969,NM_001293237.1,NM_001293235.1;MED15,5_prime_UTR_variant,,ENST00000414658,;MED15,5_prime_UTR_variant,,ENST00000432052,;MED15,intron_variant,,ENST00000445987,;MED15,upstream_gene_variant,,ENST00000438962,;MED15,non_coding_transcript_exon_variant,,ENST00000477824,;MED15,missense_variant,p.Thr8Ala,ENST00000433831,;MED15,missense_variant,p.Thr8Ala,ENST00000444094,;MED15,non_coding_transcript_exon_variant,,ENST00000486656,;MED15,upstream_gene_variant,,ENST00000441501,;,regulatory_region_variant,,ENSR00000143904,; G ENSG00000099917 ENST00000263205 Transcript missense_variant 91/3351 22/2367 8/788 T/A Acc/Gcc 1 1 MED15 HGNC HGNC:14248 protein_coding YES CCDS33602.1 ENSP00000263205 Q96RN5 UPI00001313C4 NM_001003891.2 deleterious(0.04) benign(0) 1/18 Gene3D:1.10.246.20,hmmpanther:PTHR31804 MODERATE 1 SNV 1 PASS GAC . . 20507700 AIFM3 . GRCh38 chr22 20977976 20977976 + Missense_Mutation SNP T T G novel 7316-3303 BS_0KKH9VKP T T c.1448T>G p.Ile483Ser p.I483S ENST00000399167 16/21 100 85 11 25 25 0 AIFM3,missense_variant,p.Ile483Ser,ENST00000399167,NM_144704.2;AIFM3,missense_variant,p.Ile483Ser,ENST00000440238,;AIFM3,missense_variant,p.Ile489Ser,ENST00000405089,NM_001146288.1;AIFM3,missense_variant,p.Ile483Ser,ENST00000399163,NM_001018060.2;LZTR1,upstream_gene_variant,,ENST00000215739,;AIFM3,downstream_gene_variant,,ENST00000434714,;AIFM3,downstream_gene_variant,,ENST00000441376,;LZTR1,upstream_gene_variant,,ENST00000644435,;LZTR1,upstream_gene_variant,,ENST00000645935,;LZTR1,upstream_gene_variant,,ENST00000646124,NM_006767.3;AC002470.1,downstream_gene_variant,,ENST00000610278,;AIFM3,non_coding_transcript_exon_variant,,ENST00000465606,;AIFM3,non_coding_transcript_exon_variant,,ENST00000483107,;AIFM3,downstream_gene_variant,,ENST00000468124,;AC002470.2,upstream_gene_variant,,ENST00000479606,;AIFM3,downstream_gene_variant,,ENST00000496097,;AIFM3,non_coding_transcript_exon_variant,,ENST00000486003,;LZTR1,upstream_gene_variant,,ENST00000414985,;AIFM3,downstream_gene_variant,,ENST00000417515,;AIFM3,downstream_gene_variant,,ENST00000426113,;LZTR1,upstream_gene_variant,,ENST00000443265,;AIFM3,downstream_gene_variant,,ENST00000467926,;AIFM3,downstream_gene_variant,,ENST00000472575,;AIFM3,downstream_gene_variant,,ENST00000484206,;LZTR1,upstream_gene_variant,,ENST00000493460,;LZTR1,upstream_gene_variant,,ENST00000642151,; G ENSG00000183773 ENST00000399167 Transcript missense_variant 1688/2387 1448/1818 483/605 I/S aTt/aGt 1 1 AIFM3 HGNC HGNC:26398 protein_coding YES CCDS13786.1 ENSP00000382120 Q96NN9 UPI0000071A61 NM_144704.2 deleterious(0) possibly_damaging(0.883) 16/21 hmmpanther:PTHR43557,hmmpanther:PTHR43557:SF8,Gene3D:3.50.50.60,Pfam_domain:PF07992,Superfamily_domains:SSF51905 MODERATE SNV 2 PASS ATT . . 20977976 TBC1D22A . GRCh38 chr22 46974285 46974285 + Splice_Region DEL C C - novel 7316-3303 BS_0KKH9VKP C C c.1016-3del ENST00000337137 60 45 11 28 27 0 TBC1D22A,splice_region_variant,,ENST00000337137,NM_014346.3;TBC1D22A,splice_region_variant,,ENST00000355704,NM_001284303.1;TBC1D22A,splice_region_variant,,ENST00000380995,NM_001284304.1;TBC1D22A,splice_region_variant,,ENST00000406733,NM_001284305.1;TBC1D22A,splice_region_variant,,ENST00000407381,;TBC1D22A,splice_region_variant,,ENST00000394449,;TBC1D22A,intron_variant,,ENST00000441162,; - ENSG00000054611 ENST00000337137 Transcript splice_region_variant,intron_variant 1 1 TBC1D22A HGNC HGNC:1309 protein_coding YES CCDS14078.1 ENSP00000336724 Q8WUA7 UPI0000128722 NM_014346.3 8/12 LOW 1 deletion 1 2 PASS CGCC . . 46974284 TGIF2LX . GRCh38 chrX 89922206 89922206 + Missense_Mutation SNP G G T 7316-3303 BS_0KKH9VKP G G c.121G>T p.Gly41Cys p.G41C ENST00000561129 1/1 37 27 10 13 12 0 TGIF2LX,missense_variant,p.Gly41Cys,ENST00000561129,;TGIF2LX,missense_variant,p.Gly41Cys,ENST00000283891,NM_138960.3; T ENSG00000153779 ENST00000561129 Transcript missense_variant 251/928 121/726 41/241 G/C Ggc/Tgc COSM403469 1 1 TGIF2LX HGNC HGNC:18570 protein_coding YES CCDS14459.1 ENSP00000453704 Q8IUE1 UPI0000074793 tolerated(0.07) possibly_damaging(0.87) 1/1 hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF205,mobidb-lite 1 MODERATE 1 SNV 1 PASS AGG . . 89922206 COL4A6 . GRCh38 chrX 108178676 108178676 + Splice_Region SNP G G T novel 7316-3303 BS_0KKH9VKP G G c.2566+8C>A ENST00000394872 45 17 27 18 18 0 COL4A6,splice_region_variant,,ENST00000334504,NM_033641.3;COL4A6,splice_region_variant,,ENST00000372216,NM_001847.3;COL4A6,splice_region_variant,,ENST00000394872,NM_001287758.1;COL4A6,splice_region_variant,,ENST00000538570,NM_001287760.1;COL4A6,splice_region_variant,,ENST00000545689,;COL4A6,splice_region_variant,,ENST00000621266,NM_001287759.1; T ENSG00000197565 ENST00000394872 Transcript splice_region_variant,intron_variant 1 -1 COL4A6 HGNC HGNC:2208 protein_coding YES CCDS76010.1 ENSP00000378340 A8MXH5 UPI000387C996 NM_001287758.1 28/45 LOW 1 SNV 5 1 PASS AGG . . 108178676 IGSF1 . GRCh38 chrX 131286048 131286048 + Missense_Mutation SNP A A C novel 7316-3303 BS_0KKH9VKP A A c.98T>G p.Val33Gly p.V33G ENST00000370903 4/20 37 23 14 12 12 0 IGSF1,missense_variant,p.Leu24Arg,ENST00000370904,;IGSF1,missense_variant,p.Val33Gly,ENST00000370903,NM_001170961.1;IGSF1,missense_variant,p.Leu24Arg,ENST00000370910,NM_001170962.1;IGSF1,missense_variant,p.Val33Gly,ENST00000361420,NM_001555.4;IGSF1,missense_variant,p.Val33Gly,ENST00000370901,NM_205833.3;IGSF1,missense_variant,p.Val33Gly,ENST00000370900,NM_001170963.1;IGSF1,upstream_gene_variant,,ENST00000469836,; C ENSG00000147255 ENST00000370903 Transcript missense_variant,splice_region_variant 381/4594 98/4026 33/1341 V/G gTg/gGg 1 -1 IGSF1 HGNC HGNC:5948 protein_coding YES CCDS55491.1 ENSP00000359940 Q8N6C5 UPI0000E0C769 NM_001170961.1 tolerated(0.08) benign(0) 4/20 MODERATE 1 SNV 1 1 PASS CAC . . 131286048 NBPF1 . GRCh38 chr1 16588971 16588971 + Missense_Mutation SNP T T C rs200264463 7316-1789 BS_XHT3F34T T T c.371A>G p.Asn124Ser p.N124S ENST00000430580 9/29 60 50 8 25 25 0 NBPF1,missense_variant,p.Asn124Ser,ENST00000430580,NM_017940.4;NBPF1,missense_variant,p.Asn124Ser,ENST00000432949,;NBPF1,downstream_gene_variant,,ENST00000420513,;NBPF1,intron_variant,,ENST00000392963,; C ENSG00000219481 ENST00000430580 Transcript missense_variant 1259/5932 371/3420 124/1139 N/S aAt/aGt rs200264463 1 -1 NBPF1 HGNC HGNC:26088 protein_coding YES ENSP00000474456 Q3BBV0 UPI0000E04FDF NM_017940.4 tolerated(0.19) possibly_damaging(0.801) 9/29 Gene3D:3.20.20.140,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF28 MODERATE 1 SNV 5 PASS ATT . . 0.002675 0.005099 0.00243 0.00112 0.007233 0.0002097 0.003161 0.002986 0.0008713 16588971 NBPF3 . GRCh38 chr1 21480174 21480174 + Missense_Mutation SNP C C G rs12043777 7316-1789 BS_XHT3F34T C C c.1332C>G p.Asp444Glu p.D444E ENST00000318249 11/15 35 25 10 32 30 2 NBPF3,missense_variant,p.Asp432Glu,ENST00000342104,NM_001256416.2;NBPF3,missense_variant,p.Asp444Glu,ENST00000318249,NM_032264.4;NBPF3,missense_variant,p.Asp374Glu,ENST00000454000,NM_001256417.2;NBPF3,missense_variant,p.Asp388Glu,ENST00000619554,;NBPF3,non_coding_transcript_exon_variant,,ENST00000469876,;NBPF3,non_coding_transcript_exon_variant,,ENST00000477050,;NBPF3,3_prime_UTR_variant,,ENST00000318220,;NBPF3,3_prime_UTR_variant,,ENST00000434838,; G ENSG00000142794 ENST00000318249 Transcript missense_variant 1507/3591 1332/1902 444/633 D/E gaC/gaG rs12043777,COSM4143339,COSM1127142 1 1 NBPF3 HGNC HGNC:25076 protein_coding YES CCDS216.1 ENSP00000316782 Q9H094 UPI0000037D6C NM_032264.4 tolerated(0.4) benign(0.058) 11/15 PROSITE_profiles:PS51316,hmmpanther:PTHR14199:SF18,hmmpanther:PTHR14199,Pfam_domain:PF06758,SMART_domains:SM01148 0.02925 0.189 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ACT . . 0.1514 0.01092 0.2351 0.2679 0.1597 0.09754 0.1461 0.2162 0.1778 21480174 RPRD2 . GRCh38 chr1 150472408 150472408 + Missense_Mutation SNP G G A novel 7316-1789 BS_XHT3F34T G G c.3460G>A p.Gly1154Arg p.G1154R ENST00000369068 11/11 103 96 5 42 42 0 RPRD2,missense_variant,p.Gly1128Arg,ENST00000401000,NM_001297674.1,NM_001297673.1;RPRD2,missense_variant,p.Gly1154Arg,ENST00000369068,NM_015203.4;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,; A ENSG00000163125 ENST00000369068 Transcript missense_variant 3464/4612 3460/4386 1154/1461 G/R Ggg/Agg 1 1 RPRD2 HGNC HGNC:29039 protein_coding YES CCDS44216.1 ENSP00000358064 Q5VT52 UPI00001D7CA8 NM_015203.4 deleterious_low_confidence(0) possibly_damaging(0.888) 11/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12460:SF0,hmmpanther:PTHR12460 MODERATE 1 SNV 1 PASS TGG . . 150472408 EFNA3 . GRCh38 chr1 155086160 155086160 + Missense_Mutation SNP C C G rs1265607546 7316-1789 BS_XHT3F34T C C c.541C>G p.Leu181Val p.L181V ENST00000368408 4/5 88 68 17 54 48 0 EFNA3,missense_variant,p.Leu181Val,ENST00000368408,NM_004952.4;AL691442.1,missense_variant,p.Leu176Val,ENST00000505139,;EFNA3,non_coding_transcript_exon_variant,,ENST00000498667,;EFNA3,intron_variant,,ENST00000470294,;,regulatory_region_variant,,ENSR00000014024,; G ENSG00000143590 ENST00000368408 Transcript missense_variant 611/1782 541/717 181/238 L/V Ctc/Gtc rs1265607546 1 1 EFNA3 HGNC HGNC:3223 protein_coding YES CCDS1090.1 ENSP00000357393 P52797 UPI0000129C8F NM_004952.4 tolerated(0.54) benign(0.033) 4/5 hmmpanther:PTHR11304,hmmpanther:PTHR11304:SF5 MODERATE 1 SNV 1 PASS TCT . . 4.07e-06 3.249e-05 155086160 EFNA1 . GRCh38 chr1 155133500 155133500 + Splice_Region SNP C C T novel 7316-1789 BS_XHT3F34T C C c.389-3C>T ENST00000368407 96 58 37 43 43 0 EFNA1,splice_region_variant,,ENST00000368407,NM_004428.2;EFNA1,intron_variant,,ENST00000368406,NM_182685.1;SLC50A1,upstream_gene_variant,,ENST00000303343,NM_001122839.1;SLC50A1,upstream_gene_variant,,ENST00000368401,NM_001122837.1,NM_001287589.1,NM_001287588.1;SLC50A1,upstream_gene_variant,,ENST00000368404,NM_001287587.1,NM_018845.3,NM_001287591.1;SLC50A1,upstream_gene_variant,,ENST00000484157,NM_001287590.1,NM_001287592.1;SLC50A1,upstream_gene_variant,,ENST00000622581,NM_001287586.1;EFNA1,splice_region_variant,,ENST00000469878,;EFNA1,splice_region_variant,,ENST00000474413,;EFNA1,splice_region_variant,,ENST00000497282,;SLC50A1,upstream_gene_variant,,ENST00000368405,;SLC50A1,upstream_gene_variant,,ENST00000465546,;SLC50A1,upstream_gene_variant,,ENST00000475824,;SLC50A1,upstream_gene_variant,,ENST00000479579,;SLC50A1,upstream_gene_variant,,ENST00000484027,;SLC50A1,upstream_gene_variant,,ENST00000488609,;SLC50A1,upstream_gene_variant,,ENST00000490276,;SLC50A1,upstream_gene_variant,,ENST00000490770,;SLC50A1,upstream_gene_variant,,ENST00000506037,; T ENSG00000169242 ENST00000368407 Transcript splice_region_variant,intron_variant 1 1 EFNA1 HGNC HGNC:3221 protein_coding YES CCDS1091.1 ENSP00000357392 P20827 UPI00000495C7 NM_004428.2 2/4 LOW 1 SNV 1 PASS GCA . . 155133500 MNDA . GRCh38 chr1 158842364 158842364 + Missense_Mutation SNP G G A rs1199627553 7316-1789 BS_XHT3F34T G G c.211G>A p.Asp71Asn p.D71N ENST00000368141 2/7 103 97 6 50 50 0 MNDA,missense_variant,p.Asp71Asn,ENST00000368141,NM_002432.1;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,non_coding_transcript_exon_variant,,ENST00000491210,; A ENSG00000163563 ENST00000368141 Transcript missense_variant 472/1752 211/1224 71/407 D/N Gat/Aat rs1199627553,COSM897904 1 1 MNDA HGNC HGNC:7183 protein_coding YES CCDS1177.1 ENSP00000357123 P41218 Q5VUU6 UPI0000001609 NM_002432.1 tolerated(0.13) probably_damaging(0.951) 2/7 PDB-ENSP_mappings:2dbg.A,PDB-ENSP_mappings:5h7q.A,PDB-ENSP_mappings:5wpz.A,PDB-ENSP_mappings:5wpz.B,PDB-ENSP_mappings:5wpz.C,PDB-ENSP_mappings:5wpz.D,PDB-ENSP_mappings:5wpz.E,PDB-ENSP_mappings:5wpz.F,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50824,cd08305,hmmpanther:PTHR12200:SF25,hmmpanther:PTHR12200,Gene3D:1.10.533.10,Pfam_domain:PF02758,SMART_domains:SM01289 0,1 MODERATE 1 SNV 1 0,1 PASS AGA . . 4.07e-06 8.975e-06 158842364 FCGR2A . GRCh38 chr1 161518015 161518015 + Missense_Mutation SNP T T C rs382627 7316-1789 BS_XHT3F34T T T c.821T>C p.Leu274Pro p.L274P ENST00000271450 7/7 123 102 20 45 45 0 FCGR2A,missense_variant,p.Leu274Pro,ENST00000271450,NM_001136219.1,NM_201563.5;FCGR2A,missense_variant,p.Leu273Pro,ENST00000367972,NM_021642.3;FCGR2A,missense_variant,p.Leu26Pro,ENST00000459885,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000486608,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000461298,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000471026,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000491841,;AL590385.2,non_coding_transcript_exon_variant,,ENST00000537821,;FCGR2A,3_prime_UTR_variant,,ENST00000467525,;FCGR2A,3_prime_UTR_variant,,ENST00000483665,; C ENSG00000143226 ENST00000271450 Transcript missense_variant 859/2412 821/954 274/317 L/P cTt/cCt rs382627,CM127934,COSM5655949 1 1 FCGR2A HGNC HGNC:3616 protein_coding YES CCDS44264.1 ENSP00000271450 P12318 UPI000013D8DE NM_001136219.1,NM_201563.5 tolerated(0.26) benign(0) 7/7 hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF51 0,0,1 20819849,26545243 MODERATE 1 SNV 1 0,1,1 1 PASS CTT . . 0.000417 0.0003426 0.000912 0.000105 0.000694 0.0002904 0.0003851 0.0006479 161518015 SLC41A1 . GRCh38 chr1 205798951 205798951 + Splice_Region SNP T T C novel 7316-1789 BS_XHT3F34T T T c.697+6A>G ENST00000367137 108 100 7 51 51 0 SLC41A1,splice_region_variant,,ENST00000367137,NM_173854.5;SLC41A1,splice_region_variant,,ENST00000468057,;SLC41A1,upstream_gene_variant,,ENST00000484228,; C ENSG00000133065 ENST00000367137 Transcript splice_region_variant,intron_variant 1 -1 SLC41A1 HGNC HGNC:19429 protein_coding YES CCDS30988.1 ENSP00000356105 Q8IVJ1 B2RMP2 UPI000013E1E6 NM_173854.5 5/10 LOW 1 SNV 1 PASS TTC . . 205798951 IRF6 . GRCh38 chr1 209790708 209790708 + Missense_Mutation SNP T T C novel 7316-1789 BS_XHT3F34T T T c.847A>G p.Thr283Ala p.T283A ENST00000367021 7/9 91 70 21 48 48 0 IRF6,missense_variant,p.Thr283Ala,ENST00000367021,NM_006147.3;IRF6,missense_variant,p.Thr188Ala,ENST00000542854,NM_001206696.1;IRF6,downstream_gene_variant,,ENST00000456314,;IRF6,3_prime_UTR_variant,,ENST00000643798,;IRF6,downstream_gene_variant,,ENST00000464698,; C ENSG00000117595 ENST00000367021 Transcript missense_variant 1020/4306 847/1404 283/467 T/A Acc/Gcc 1 -1 IRF6 HGNC HGNC:6121 protein_coding YES CCDS1492.1 ENSP00000355988 O14896 G0Z349 UPI000012D88D NM_006147.3 tolerated(0.13) benign(0.034) 7/9 Gene3D:2.60.200.10,Pfam_domain:PF10401,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF9,SMART_domains:SM01243,Superfamily_domains:SSF49879 MODERATE 1 SNV 1 1 PASS GTA . . 209790708 CENPF . GRCh38 chr1 214620697 214620697 + Missense_Mutation SNP G G A rs376653860 7316-1789 BS_XHT3F34T G G c.616G>A p.Asp206Asn p.D206N ENST00000366955 6/20 111 81 29 46 46 0 CENPF,missense_variant,p.Asp206Asn,ENST00000366955,NM_016343.3; A ENSG00000117724 ENST00000366955 Transcript missense_variant 784/10307 616/9345 206/3114 D/N Gac/Aac rs376653860,COSM3418728 1 1 CENPF HGNC HGNC:1857 protein_coding YES CCDS31023.1 ENSP00000355922 P49454 UPI00001AE985 NM_016343.3 deleterious(0) possibly_damaging(0.856) 6/20 Pfam_domain:PF10481,hmmpanther:PTHR18874 0.000227 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGA . . 2.032e-05 0.0001961 1.793e-05 214620697 SLC35F3 . GRCh38 chr1 234231749 234231749 + Splice_Region SNP C C T novel 7316-1789 BS_XHT3F34T C C c.608+8C>T ENST00000366618 89 63 23 43 41 0 SLC35F3,splice_region_variant,,ENST00000366617,NM_001300845.1;SLC35F3,splice_region_variant,,ENST00000366618,NM_173508.3; T ENSG00000183780 ENST00000366618 Transcript splice_region_variant,intron_variant 1 1 SLC35F3 HGNC HGNC:23616 protein_coding YES CCDS1600.1 ENSP00000355577 Q8IY50 UPI000006DD13 NM_173508.3 3/7 LOW 1 SNV 2 PASS GCG . . 234231749 RYR2 . GRCh38 chr1 237617323 237617323 + Missense_Mutation SNP T T C novel 7316-1789 BS_XHT3F34T T T c.5753T>C p.Val1918Ala p.V1918A ENST00000366574 38/105 101 91 5 40 40 0 RYR2,missense_variant,p.Val1918Ala,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Val1902Ala,ENST00000360064,; C ENSG00000198626 ENST00000366574 Transcript missense_variant 6070/16562 5753/14904 1918/4967 V/A gTc/gCc 1 1 RYR2 HGNC HGNC:10484 protein_coding YES CCDS55691.1 ENSP00000355533 Q92736 UPI0000DD0308 NM_001035.2 deleterious(0) possibly_damaging(0.449) 38/105 hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75 MODERATE 1 SNV 1 1 PASS GTC . . 237617323 AHCTF1 . GRCh38 chr1 246891833 246891834 + Frame_Shift_Ins INS - - ATTGCTAAGAAGCAAATAGC novel 7316-1789 BS_XHT3F34T - - c.1898_1917dup p.Leu640AlafsTer10 p.L640Afs*10 ENST00000326225 15/36 141 98 23 56 46 0 AHCTF1,frameshift_variant,p.Leu666AlafsTer10,ENST00000366508,NM_001323343.1,NM_001323342.1;AHCTF1,frameshift_variant,p.Leu640AlafsTer10,ENST00000326225,NM_015446.4;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,; ATTGCTAAGAAGCAAATAGC ENSG00000153207 ENST00000326225 Transcript frameshift_variant 2014-2015/8633 1917-1918/6828 639-640/2275 -/AICFLAX -/GCTATTTGCTTCTTAGCAAT 1 -1 AHCTF1 HGNC HGNC:24618 protein_coding YES CCDS1629.2 ENSP00000355465 Q8WYP5 UPI0000204034 NM_015446.4 15/36 Gene3D:2.130.10.10,hmmpanther:PTHR21583 HIGH 1 insertion 1 PASS AGA . . 246891833 LINC01115 . GRCh38 chr2 806028 806028 + Splice_Site SNP C C A novel 7316-1789 BS_XHT3F34T C C n.767+1G>T ENST00000621134 52 26 22 40 40 0 LINC01115,splice_donor_variant,,ENST00000415700,;LINC01115,splice_donor_variant,,ENST00000621134,; A ENSG00000237667 ENST00000621134 Transcript splice_donor_variant,non_coding_transcript_variant 1 -1 LINC01115 HGNC HGNC:49258 lincRNA YES 3/3 HIGH 1 SNV 1 PASS ACC . . 806028 FSHR . GRCh38 chr2 48963845 48963845 + Missense_Mutation SNP A A C novel 7316-1789 BS_XHT3F34T A A c.976T>G p.Phe326Val p.F326V ENST00000406846 10/10 54 48 6 43 42 0 FSHR,missense_variant,p.Phe326Val,ENST00000406846,NM_000145.3;FSHR,missense_variant,p.Phe300Val,ENST00000304421,NM_181446.2;FSHR,missense_variant,p.Phe264Val,ENST00000454032,;AC009975.1,intron_variant,,ENST00000634588,;FSHR,downstream_gene_variant,,ENST00000469138,; C ENSG00000170820 ENST00000406846 Transcript missense_variant 1096/2784 976/2088 326/695 F/V Ttt/Gtt 1 -1 FSHR HGNC HGNC:3969 protein_coding YES CCDS1843.1 ENSP00000384708 A0A1D5RMN4 UPI000013E97A NM_000145.3 tolerated(0.14) benign(0.012) 10/10 Gene3D:3.80.10.10,Pfam_domain:PF12369,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF5 MODERATE 1 SNV 1 1 PASS AAT . . 48963845 POLR1A . GRCh38 chr2 86052882 86052882 + Missense_Mutation SNP T T C novel 7316-1789 BS_XHT3F34T T T c.2327A>G p.Lys776Arg p.K776R ENST00000263857 16/34 89 74 15 61 60 0 POLR1A,missense_variant,p.Lys776Arg,ENST00000263857,NM_015425.3;POLR1A,missense_variant,p.Lys776Arg,ENST00000409681,;POLR1A,downstream_gene_variant,,ENST00000483538,; C ENSG00000068654 ENST00000263857 Transcript missense_variant 2706/12749 2327/5163 776/1720 K/R aAg/aGg 1 -1 POLR1A HGNC HGNC:17264 protein_coding YES CCDS42706.1 ENSP00000263857 O95602 UPI0000D7DB86 NM_015425.3 tolerated(0.68) benign(0.003) 16/34 cd01435,hmmpanther:PTHR19376:SF11,hmmpanther:PTHR19376,Pfam_domain:PF04983,Superfamily_domains:SSF64484 MODERATE 1 SNV 1 1 PASS CTT . . 86052882 PDE11A . GRCh38 chr2 178071526 178071526 + Missense_Mutation SNP C C A 7316-1789 BS_XHT3F34T C C c.912G>T p.Gln304His p.Q304H ENST00000286063 1/20 57 51 5 50 50 0 PDE11A,missense_variant,p.Gln304His,ENST00000286063,NM_016953.3;PDE11A,intron_variant,,ENST00000358450,NM_001077197.1; A ENSG00000128655 ENST00000286063 Transcript missense_variant,splice_region_variant 1230/9275 912/2802 304/933 Q/H caG/caT COSM1010003 1 -1 PDE11A HGNC HGNC:8773 protein_coding YES CCDS33334.1 ENSP00000286063 Q9HCR9 UPI00001402C1 NM_016953.3 deleterious(0.01) possibly_damaging(0.582) 1/20 Gene3D:3.30.450.40,Pfam_domain:PF01590,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF139,SMART_domains:SM00065,Superfamily_domains:SSF55781 1 MODERATE 1 SNV 1 1 1 PASS CCT . . 178071526 TTN . GRCh38 chr2 178581991 178581991 + Nonsense_Mutation SNP A A T novel 7316-1789 BS_XHT3F34T A A c.66378T>A p.Tyr22126Ter p.Y22126* ENST00000589042 315/363 46 39 6 40 40 0 TTN,stop_gained,p.Tyr22126Ter,ENST00000589042,NM_001267550.2;TTN,stop_gained,p.Tyr20485Ter,ENST00000591111,;TTN,stop_gained,p.Tyr20485Ter,ENST00000615779,NM_001256850.1;TTN,stop_gained,p.Tyr19558Ter,ENST00000342992,NM_133378.4;TTN,stop_gained,p.Tyr13061Ter,ENST00000460472,NM_003319.4;TTN,stop_gained,p.Tyr13253Ter,ENST00000342175,NM_133437.4;TTN,stop_gained,p.Tyr13186Ter,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;AC010680.2,downstream_gene_variant,,ENST00000603521,;AC010680.3,downstream_gene_variant,,ENST00000604215,;TTN-AS1,upstream_gene_variant,,ENST00000626517,;TTN-AS1,upstream_gene_variant,,ENST00000629117,; T ENSG00000155657 ENST00000589042 Transcript stop_gained 66603/109224 66378/107976 22126/35991 Y/* taT/taA 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 315/363 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 HIGH SNV 5 1 PASS CAT . . 178581991 TTN . GRCh38 chr2 178582164 178582164 + Missense_Mutation SNP T T C novel 7316-1789 BS_XHT3F34T T T c.66205A>G p.Lys22069Glu p.K22069E ENST00000589042 315/363 44 37 7 48 48 0 TTN,missense_variant,p.Lys22069Glu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Lys20428Glu,ENST00000591111,;TTN,missense_variant,p.Lys20428Glu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Lys19501Glu,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Lys13004Glu,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Lys13196Glu,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Lys13129Glu,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;AC010680.2,downstream_gene_variant,,ENST00000603521,;AC010680.3,downstream_gene_variant,,ENST00000604215,;TTN-AS1,upstream_gene_variant,,ENST00000626517,;TTN-AS1,upstream_gene_variant,,ENST00000629117,; C ENSG00000155657 ENST00000589042 Transcript missense_variant 66430/109224 66205/107976 22069/35991 K/E Aaa/Gaa 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 benign(0.254) 315/363 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 MODERATE SNV 5 1 PASS TTG . . 178582164 CHL1 . GRCh38 chr3 365991 365991 + Missense_Mutation SNP C C G 7316-1789 BS_XHT3F34T C C c.1627C>G p.Pro543Ala p.P543A ENST00000256509 15/28 43 38 5 46 46 0 CHL1,missense_variant,p.Pro543Ala,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Pro543Ala,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Pro527Ala,ENST00000397491,NM_001253387.1;CHL1-AS1,intron_variant,,ENST00000417612,;CHL1-AS1,intron_variant,,ENST00000608098,;CHL1,downstream_gene_variant,,ENST00000471332,;CHL1,3_prime_UTR_variant,,ENST00000453040,; G ENSG00000134121 ENST00000256509 Transcript missense_variant 2269/8023 1627/3675 543/1224 P/A Ccc/Gcc COSM6384653,COSM5896691 1 1 CHL1 HGNC HGNC:1939 protein_coding YES CCDS2556.1 ENSP00000256509 O00533 UPI000013CF0F NM_006614.3 tolerated(0.75) benign(0.043) 15/28 hmmpanther:PTHR43951,hmmpanther:PTHR43951:SF6,Gene3D:2.60.40.10,Pfam_domain:PF00047,Superfamily_domains:SSF48726,SMART_domains:SM00409,PROSITE_profiles:PS50835 1,1 MODERATE 1 SNV 1 1,1 PASS CCC . . 365991 CRBN . GRCh38 chr3 3167629 3167629 + Splice_Region SNP C C T novel 7316-1789 BS_XHT3F34T C C c.687+5G>A ENST00000231948 76 55 21 39 39 0 CRBN,missense_variant,p.Arg227Lys,ENST00000450014,;CRBN,splice_region_variant,,ENST00000231948,NM_016302.3;CRBN,splice_region_variant,,ENST00000424814,;CRBN,splice_region_variant,,ENST00000432408,NM_001173482.1;CRBN,splice_region_variant,,ENST00000639284,;CRBN,splice_region_variant,,ENST00000480249,;CRBN,splice_region_variant,,ENST00000482844,;CRBN,splice_region_variant,,ENST00000491834,;CRBN,downstream_gene_variant,,ENST00000498700,; T ENSG00000113851 ENST00000231948 Transcript splice_region_variant,intron_variant 1 -1 CRBN HGNC HGNC:30185 protein_coding YES CCDS2562.1 ENSP00000231948 Q96SW2 A0A024R2H8 UPI000006E62A NM_016302.3 5/10 LOW 1 SNV 1 1 PASS TCT . . 3167629 LHFPL4 . GRCh38 chr3 9506011 9506011 + Missense_Mutation SNP C C T rs1178285020 7316-1789 BS_XHT3F34T C C c.599G>A p.Arg200Gln p.R200Q ENST00000287585 3/4 62 44 17 50 50 0 LHFPL4,missense_variant,p.Arg200Gln,ENST00000287585,NM_198560.2; T ENSG00000156959 ENST00000287585 Transcript missense_variant 885/4880 599/744 200/247 R/Q cGg/cAg rs1178285020 1 -1 LHFPL4 HGNC HGNC:29568 protein_coding YES CCDS33691.1 ENSP00000287585 Q7Z7J7 UPI000019B16A NM_198560.2 deleterious(0) probably_damaging(0.998) 3/4 Pfam_domain:PF10242,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF14 MODERATE 1 SNV 1 PASS CCG . . 4.062e-06 8.956e-06 9506011 SLMAP . GRCh38 chr3 57864860 57864860 + Splice_Region SNP A A T novel 7316-1789 BS_XHT3F34T A A c.1186+3A>T ENST00000428312 96 62 31 53 53 0 SLMAP,splice_region_variant,,ENST00000383718,;SLMAP,splice_region_variant,,ENST00000428312,NM_001304420.2;SLMAP,intron_variant,,ENST00000295951,;SLMAP,intron_variant,,ENST00000295952,NM_007159.4;SLMAP,intron_variant,,ENST00000416658,;SLMAP,intron_variant,,ENST00000449503,NM_001304421.2;SLMAP,intron_variant,,ENST00000465203,;SLMAP,intron_variant,,ENST00000475055,;SLMAP,splice_region_variant,,ENST00000467901,; T ENSG00000163681 ENST00000428312 Transcript splice_region_variant,intron_variant 1 1 SLMAP HGNC HGNC:16643 protein_coding YES CCDS77757.1 ENSP00000398661 Q14BN4 UPI00005796CD NM_001304420.2 11/21 LOW 1 SNV 1 1 PASS TAG . . 57864860 MCM2 . GRCh38 chr3 127617345 127617345 + Missense_Mutation SNP G G A novel 7316-1789 BS_XHT3F34T G G c.1840G>A p.Ala614Thr p.A614T ENST00000265056 11/16 56 38 17 43 43 0 MCM2,missense_variant,p.Ala614Thr,ENST00000265056,NM_004526.3;MCM2,missense_variant,p.Ala546Thr,ENST00000491422,;MCM2,upstream_gene_variant,,ENST00000468414,;MCM2,3_prime_UTR_variant,,ENST00000474964,;MCM2,3_prime_UTR_variant,,ENST00000477668,;MCM2,non_coding_transcript_exon_variant,,ENST00000473785,; A ENSG00000073111 ENST00000265056 Transcript missense_variant 2084/3622 1840/2715 614/904 A/T Gct/Act 1 1 MCM2 HGNC HGNC:6944 protein_coding YES CCDS3043.1 ENSP00000265056 P49736 UPI00001A3E4E NM_004526.3 deleterious(0) probably_damaging(0.994) 11/16 cd00009,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00350,Superfamily_domains:SSF52540,PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF44,Prints_domain:PR01657 MODERATE 1 SNV 1 1 PASS GGC . . 127617345 KIAA1257 . GRCh38 chr3 128945596 128945596 + Missense_Mutation SNP T T G novel 7316-1789 BS_XHT3F34T T T c.1733A>C p.Lys578Thr p.K578T ENST00000645291 10/16 86 59 27 43 41 1 KIAA1257,missense_variant,p.Lys578Thr,ENST00000645291,;KIAA1257,intron_variant,,ENST00000511438,;KIAA1257,non_coding_transcript_exon_variant,,ENST00000511204,;KIAA1257,3_prime_UTR_variant,,ENST00000508239,; G ENSG00000114656 ENST00000645291 Transcript missense_variant 1901/3839 1733/3246 578/1081 K/T aAg/aCg 1 -1 KIAA1257 HGNC HGNC:29231 protein_coding ENSP00000496592 UPI000D19003E tolerated(0.06) possibly_damaging(0.664) 10/16 Gene3D:2.60.40.150,hmmpanther:PTHR33667,hmmpanther:PTHR33667:SF2 MODERATE SNV PASS CTT . . 128945596 PRR23C . GRCh38 chr3 139044350 139044350 + Missense_Mutation SNP A A T novel 7316-1789 BS_XHT3F34T A A c.271T>A p.Ser91Thr p.S91T ENST00000413199 1/1 73 45 24 48 48 0 PRR23C,missense_variant,p.Ser91Thr,ENST00000413199,NM_001134657.1;MRPS22,intron_variant,,ENST00000495075,;,regulatory_region_variant,,ENSR00000159089,;,regulatory_region_variant,,ENSR00000306520,; T ENSG00000233701 ENST00000413199 Transcript missense_variant 543/2791 271/789 91/262 S/T Tct/Act 1 -1 PRR23C HGNC HGNC:37173 protein_coding YES CCDS46924.1 ENSP00000396648 Q6ZRP0 UPI00001C0F48 NM_001134657.1 tolerated(0.21) benign(0.25) 1/1 Pfam_domain:PF10630,hmmpanther:PTHR31813,hmmpanther:PTHR31813:SF6 MODERATE SNV PASS GAC . . 139044350 ZIC1 . GRCh38 chr3 147410309 147410309 + Missense_Mutation SNP C C T novel 7316-1789 BS_XHT3F34T C C c.197C>T p.Ser66Leu p.S66L ENST00000282928 1/3 68 53 13 46 46 0 ZIC1,missense_variant,p.Ser66Leu,ENST00000282928,NM_003412.3;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,NM_032153.5;ZIC4,upstream_gene_variant,,ENST00000425731,NM_001168379.1;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC4,upstream_gene_variant,,ENST00000473123,;ZIC4,upstream_gene_variant,,ENST00000491672,NM_001243256.1;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,; T ENSG00000152977 ENST00000282928 Transcript missense_variant 926/5241 197/1344 66/447 S/L tCg/tTg 1 1 ZIC1 HGNC HGNC:12872 protein_coding YES CCDS3136.1 ENSP00000282928 Q15915 UPI000013DD09 NM_003412.3 tolerated(0.21) possibly_damaging(0.639) 1/3 hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26 MODERATE 1 SNV 1 1 PASS TCG . . 147410309 PLD1 . GRCh38 chr3 171603193 171603193 + Missense_Mutation SNP A A C novel 7316-1789 BS_XHT3F34T A A c.3110T>G p.Leu1037Arg p.L1037R ENST00000351298 27/27 77 68 8 52 52 0 PLD1,missense_variant,p.Leu999Arg,ENST00000356327,NM_001130081.2;PLD1,missense_variant,p.Leu1037Arg,ENST00000351298,NM_002662.4;PLD1,upstream_gene_variant,,ENST00000463281,; C ENSG00000075651 ENST00000351298 Transcript missense_variant 3237/5604 3110/3225 1037/1074 L/R cTg/cGg 1 -1 PLD1 HGNC HGNC:9067 protein_coding YES CCDS3216.1 ENSP00000342793 Q13393 UPI0000131BDC NM_002662.4 deleterious(0) probably_damaging(0.98) 27/27 hmmpanther:PTHR18896,hmmpanther:PTHR18896:SF57,PIRSF_domain:PIRSF009376 MODERATE 1 SNV 1 1 PASS CAG . . 171603193 PLD1 . GRCh38 chr3 171603196 171603196 + Missense_Mutation SNP T T C novel 7316-1789 BS_XHT3F34T T T c.3107A>G p.Glu1036Gly p.E1036G ENST00000351298 27/27 79 69 9 54 53 0 PLD1,missense_variant,p.Glu998Gly,ENST00000356327,NM_001130081.2;PLD1,missense_variant,p.Glu1036Gly,ENST00000351298,NM_002662.4;PLD1,upstream_gene_variant,,ENST00000463281,; C ENSG00000075651 ENST00000351298 Transcript missense_variant 3234/5604 3107/3225 1036/1074 E/G gAa/gGa 1 -1 PLD1 HGNC HGNC:9067 protein_coding YES CCDS3216.1 ENSP00000342793 Q13393 UPI0000131BDC NM_002662.4 deleterious(0.03) possibly_damaging(0.756) 27/27 hmmpanther:PTHR18896,hmmpanther:PTHR18896:SF57,PIRSF_domain:PIRSF009376 MODERATE 1 SNV 1 1 PASS TTC . . 171603196 LIPH . GRCh38 chr3 185517144 185517144 + Missense_Mutation SNP C C G 7316-1789 BS_XHT3F34T C C c.905G>C p.Trp302Ser p.W302S ENST00000296252 7/10 107 74 31 54 53 0 LIPH,missense_variant,p.Trp302Ser,ENST00000296252,NM_139248.2;LIPH,missense_variant,p.Trp268Ser,ENST00000424591,;LIPH,upstream_gene_variant,,ENST00000435679,;LIPH,downstream_gene_variant,,ENST00000452897,; G ENSG00000163898 ENST00000296252 Transcript missense_variant 1047/4026 905/1356 302/451 W/S tGg/tCg COSM4561963 1 -1 LIPH HGNC HGNC:18483 protein_coding YES CCDS3272.1 ENSP00000296252 Q8WWY8 UPI000003AEB8 NM_139248.2 deleterious(0) probably_damaging(0.976) 7/10 cd00707,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF12,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Pfam_domain:PF00151,Superfamily_domains:SSF53474 1 MODERATE 1 SNV 1 1 1 PASS CCA . . 185517144 PPP2R2C . GRCh38 chr4 6333567 6333567 + Missense_Mutation SNP A A T novel 7316-1789 BS_XHT3F34T A A c.955T>A p.Tyr319Asn p.Y319N ENST00000335585 7/9 78 53 25 42 41 0 PPP2R2C,missense_variant,p.Tyr319Asn,ENST00000335585,NM_181876.2;PPP2R2C,missense_variant,p.Tyr302Asn,ENST00000515571,NM_001206996.1;PPP2R2C,missense_variant,p.Tyr319Asn,ENST00000382599,NM_020416.3;PPP2R2C,missense_variant,p.Tyr312Asn,ENST00000506140,NM_001206994.1;PPP2R2C,missense_variant,p.Tyr312Asn,ENST00000507294,NM_001206995.1;PPP2R2C,downstream_gene_variant,,ENST00000513943,; T ENSG00000074211 ENST00000335585 Transcript missense_variant 979/4092 955/1344 319/447 Y/N Tac/Aac 1 -1 PPP2R2C HGNC HGNC:9306 protein_coding YES CCDS3388.1 ENSP00000335083 Q9Y2T4 UPI0000140CE7 NM_181876.2 deleterious(0.01) possibly_damaging(0.882) 7/9 hmmpanther:PTHR11871,hmmpanther:PTHR11871:SF5,PIRSF_domain:PIRSF037309,Gene3D:2.130.10.10,Superfamily_domains:SSF50978,Prints_domain:PR00600 MODERATE 1 SNV 2 PASS TAG . . 6333567 NWD2 . GRCh38 chr4 37444834 37444834 + Missense_Mutation SNP A A G rs1370304176 7316-1789 BS_XHT3F34T A A c.2846A>G p.His949Arg p.H949R ENST00000309447 7/7 81 51 27 51 51 0 NWD2,missense_variant,p.His949Arg,ENST00000309447,NM_001144990.1; G ENSG00000174145 ENST00000309447 Transcript missense_variant 3694/8325 2846/5229 949/1742 H/R cAt/cGt rs1370304176 1 1 NWD2 HGNC HGNC:29229 protein_coding YES CCDS47040.1 ENSP00000309501 Q9ULI1 UPI00006C0875 NM_001144990.1 tolerated(0.23) probably_damaging(0.991) 7/7 hmmpanther:PTHR19857,hmmpanther:PTHR19857:SF18,Gene3D:2.130.10.10,SMART_domains:SM00320 MODERATE 1 SNV 5 PASS CAT . . 37444834 PHOX2B . GRCh38 chr4 41748537 41748537 + Missense_Mutation SNP C C A novel 7316-1789 BS_XHT3F34T C C c.74G>T p.Ser25Ile p.S25I ENST00000226382 1/3 88 62 25 45 45 0 PHOX2B,missense_variant,p.Ser25Ile,ENST00000226382,NM_003924.3;AC105389.1,upstream_gene_variant,,ENST00000510602,;AC105389.3,non_coding_transcript_exon_variant,,ENST00000508038,;PHOX2B,upstream_gene_variant,,ENST00000510424,; A ENSG00000109132 ENST00000226382 Transcript missense_variant 434/3030 74/945 25/314 S/I aGc/aTc 1 -1 PHOX2B HGNC HGNC:9143 protein_coding YES CCDS3463.1 ENSP00000226382 Q99453 UPI000000D936 NM_003924.3 deleterious_low_confidence(0) benign(0.307) 1/3 hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF301 MODERATE 1 SNV 1 1 PASS GCT . . 41748537 SLC4A4 . GRCh38 chr4 71547693 71547696 + Frame_Shift_Del DEL GTCA GTCA - novel 7316-1789 BS_XHT3F34T GTCA GTCA c.2670_2673del p.Val891LeufsTer6 p.V891Lfs*6 ENST00000425175 20/25 90 64 18 49 49 0 SLC4A4,frameshift_variant,p.Val847LeufsTer6,ENST00000340595,NM_003759.3;SLC4A4,frameshift_variant,p.Val891LeufsTer6,ENST00000425175,NM_001134742.1;SLC4A4,frameshift_variant,p.Val891LeufsTer6,ENST00000264485,NM_001098484.2;SLC4A4,intron_variant,,ENST00000351898,; - ENSG00000080493 ENST00000425175 Transcript frameshift_variant 2784-2787/7596 2667-2670/3285 889-890/1094 LS/X ctGTCA/ct 1 1 SLC4A4 HGNC HGNC:11030 protein_coding YES CCDS47071.1 ENSP00000393557 Q9Y6R1 A5JJ20 UPI000152897D NM_001134742.1 20/25 Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix HIGH 1 deletion 5 3 1 PASS CTGTCAG . . 71547692 C4orf54 . GRCh38 chr4 99653213 99653213 + Missense_Mutation SNP G G T novel 7316-1789 BS_XHT3F34T G G c.1436C>A p.Thr479Asn p.T479N ENST00000511828 1/2 80 64 16 39 39 0 C4orf54,missense_variant,p.Thr479Asn,ENST00000511828,NM_001354435.1; T ENSG00000248713 ENST00000511828 Transcript missense_variant 1436/10086 1436/5382 479/1793 T/N aCt/aAt 1 -1 C4orf54 HGNC HGNC:27741 protein_coding YES ENSP00000427555 D6RIA3 UPI0001D3B6FE NM_001354435.1 deleterious_low_confidence(0.02) benign(0.106) 1/2 hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF147,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AGT . . 99653213 GUCY1B1 . GRCh38 chr4 155793901 155793901 + Missense_Mutation SNP A A T rs756120399 7316-1789 BS_XHT3F34T A A c.607A>T p.Ile203Phe p.I203F ENST00000502959 7/15 85 79 6 46 46 0 GUCY1B1,missense_variant,p.Ile181Phe,ENST00000264424,NM_000857.3;GUCY1B1,missense_variant,p.Ile113Phe,ENST00000507146,NM_001291953.1;GUCY1B1,missense_variant,p.Ile161Phe,ENST00000505764,NM_001291952.1;GUCY1B1,missense_variant,p.Ile113Phe,ENST00000513437,;GUCY1B1,missense_variant,p.Ile113Phe,ENST00000505154,NM_001291955.1;GUCY1B1,missense_variant,p.Ile203Phe,ENST00000502959,NM_001291951.1;GUCY1B1,missense_variant,p.Ile181Phe,ENST00000503520,NM_001291954.1; T ENSG00000061918 ENST00000502959 Transcript missense_variant 727/2255 607/1926 203/641 I/F Att/Ttt rs756120399 1 1 GUCY1B1 HGNC HGNC:4687 protein_coding YES CCDS77975.1 ENSP00000426786 E9PCN2 UPI0001D3B9A4 NM_001291951.1 deleterious(0) probably_damaging(0.974) 7/15 Gene3D:3.90.1520.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF318,Superfamily_domains:SSF111126 MODERATE 1 SNV 2 PASS AAT . . 4.067e-06 3.25e-05 155793901 TKTL2 . GRCh38 chr4 163473596 163473601 + In_Frame_Del DEL CCGCTG CCGCTG - novel 7316-1789 BS_XHT3F34T CCGCTG CCGCTG c.134_139del p.Ala45_Ala46del p.A45_A46del ENST00000280605 1/1 65 44 19 46 46 0 TKTL2,inframe_deletion,p.Ala45_Ala46del,ENST00000280605,NM_032136.4; - ENSG00000151005 ENST00000280605 Transcript inframe_deletion 146-151/2654 134-139/1881 45-47/626 AAE/E gCAGCGGag/gag 1 -1 TKTL2 HGNC HGNC:25313 protein_coding YES CCDS3805.1 ENSP00000280605 Q9H0I9 A0A140VKC2 UPI0000037C67 NM_032136.4 1/1 cd02012,hmmpanther:PTHR43195:SF4,hmmpanther:PTHR43195,Pfam_domain:PF00456,Gene3D:3.40.50.970,Superfamily_domains:SSF52518 MODERATE 1 deletion PASS CTCCGCTGC . . 163473595 CKMT2 . GRCh38 chr5 81244203 81244203 + Splice_Region SNP G G C novel 7316-1789 BS_XHT3F34T G G c.-23G>C ENST00000424301 2/11 88 44 42 44 44 0 CKMT2,splice_region_variant,,ENST00000424301,NM_001825.2;CKMT2,intron_variant,,ENST00000254035,;CKMT2,intron_variant,,ENST00000437669,NM_001099735.1,NM_001099736.1;CKMT2,intron_variant,,ENST00000505060,;CKMT2,intron_variant,,ENST00000511719,;CKMT2-AS1,intron_variant,,ENST00000500148,;CKMT2-AS1,intron_variant,,ENST00000501927,;CKMT2-AS1,intron_variant,,ENST00000502041,;CKMT2-AS1,intron_variant,,ENST00000503483,;CKMT2-AS1,intron_variant,,ENST00000511495,;CKMT2-AS1,intron_variant,,ENST00000512287,;CKMT2-AS1,downstream_gene_variant,,ENST00000505295,;CKMT2,intron_variant,,ENST00000505704,;CKMT2,intron_variant,,ENST00000513094,;CKMT2,intron_variant,,ENST00000515615,;CKMT2,intron_variant,,ENST00000515238,;AC026436.1,upstream_gene_variant,,ENST00000510537,; C ENSG00000131730 ENST00000424301 Transcript splice_region_variant,5_prime_UTR_variant 216/1637 1 1 CKMT2 HGNC HGNC:1996 protein_coding YES CCDS4053.1 ENSP00000404203 P17540 A0A024RAK5 UPI000013CE0D NM_001825.2 2/11 LOW 1 SNV 1 PASS TGA . . 81244203 VCAN . GRCh38 chr5 83521031 83521031 + Missense_Mutation SNP A A C novel 7316-1789 BS_XHT3F34T A A c.2725A>C p.Ile909Leu p.I909L ENST00000265077 7/15 74 45 29 57 57 0 VCAN,missense_variant,p.Ile909Leu,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Ile909Leu,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Ile861Leu,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000515397,; C ENSG00000038427 ENST00000265077 Transcript missense_variant 3290/12625 2725/10191 909/3396 I/L Atc/Ctc 1 1 VCAN HGNC HGNC:2464 protein_coding YES CCDS4060.1 ENSP00000265077 P13611 A0A024RAQ9 UPI000013178B NM_004385.4 tolerated(0.58) benign(0) 7/15 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6 MODERATE 1 SNV 1 1 PASS TAT . . 83521031 HSD17B4 . GRCh38 chr5 119499447 119499447 + Missense_Mutation SNP G G T novel 7316-1789 BS_XHT3F34T G G c.1178G>T p.Ser393Ile p.S393I ENST00000414835 14/25 77 50 26 39 39 0 HSD17B4,missense_variant,p.Ser393Ile,ENST00000414835,NM_001199291.2;HSD17B4,missense_variant,p.Ser393Ile,ENST00000504811,;HSD17B4,missense_variant,p.Ser368Ile,ENST00000646058,;HSD17B4,missense_variant,p.Ser368Ile,ENST00000256216,NM_000414.3;HSD17B4,missense_variant,p.Ser368Ile,ENST00000510025,;HSD17B4,missense_variant,p.Ser350Ile,ENST00000515320,NM_001199292.1;HSD17B4,missense_variant,p.Ser106Ile,ENST00000509514,;HSD17B4,missense_variant,p.Ser231Ile,ENST00000513628,;HSD17B4,missense_variant,p.Ser344Ile,ENST00000646125,NM_001292027.1;HSD17B4,missense_variant,p.Ser221Ile,ENST00000645099,;HSD17B4,missense_variant,p.Ser228Ile,ENST00000646646,NM_001292028.1;HSD17B4,non_coding_transcript_exon_variant,,ENST00000518349,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000520216,;HSD17B4,upstream_gene_variant,,ENST00000520244,;HSD17B4,missense_variant,p.Ser368Ile,ENST00000442060,;HSD17B4,3_prime_UTR_variant,,ENST00000644146,;HSD17B4,3_prime_UTR_variant,,ENST00000646355,;HSD17B4,3_prime_UTR_variant,,ENST00000646554,;HSD17B4,3_prime_UTR_variant,,ENST00000647335,;HSD17B4,3_prime_UTR_variant,,ENST00000647342,;HSD17B4,3_prime_UTR_variant,,ENST00000645832,;HSD17B4,3_prime_UTR_variant,,ENST00000643250,;HSD17B4,3_prime_UTR_variant,,ENST00000645702,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000515235,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000512029,; T ENSG00000133835 ENST00000414835 Transcript missense_variant 1435/2881 1178/2286 393/761 S/I aGt/aTt 1 1 HSD17B4 HGNC HGNC:5213 protein_coding YES CCDS56379.1 ENSP00000411960 G5E9S2 UPI0001AE7403 NM_001199291.2 deleterious(0.02) possibly_damaging(0.903) 14/25 hmmpanther:PTHR45024,hmmpanther:PTHR45024:SF2,Pfam_domain:PF13452,Gene3D:3.10.129.10,Superfamily_domains:SSF54637 MODERATE 1 SNV 2 1 PASS AGT . . 119499447 SLC26A2 . GRCh38 chr5 149981371 149981379 + In_Frame_Del DEL AATGCTTTA AATGCTTTA - novel 7316-1789 BS_XHT3F34T AATGCTTTA AATGCTTTA c.1781_1789del p.Cys594_Lys596del p.C594_K596del ENST00000286298 3/3 89 67 20 64 64 0 SLC26A2,inframe_deletion,p.Cys594_Lys596del,ENST00000286298,NM_000112.3;SLC26A2,intron_variant,,ENST00000503336,;SLC26A2,downstream_gene_variant,,ENST00000433184,; - ENSG00000155850 ENST00000286298 Transcript inframe_deletion 2046-2054/8080 1778-1786/2220 593-596/739 ECFK/E gAATGCTTTAaa/gaa 1 1 SLC26A2 HGNC HGNC:10994 protein_coding YES CCDS4300.1 ENSP00000286298 P50443 UPI000013DE3D NM_000112.3 3/3 Gene3D:3.30.750.24,Pfam_domain:PF01740,PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF16,Superfamily_domains:SSF52091,TIGRFAM_domain:TIGR00815,cd06844 MODERATE 1 deletion 1 3 1 PASS AGAATGCTTTAA . . 149981370 FLT4 . GRCh38 chr5 180614175 180614175 + Missense_Mutation SNP C C T rs1400220848 7316-1789 BS_XHT3F34T C C c.3224G>A p.Arg1075Gln p.R1075Q ENST00000261937 24/30 63 42 18 44 43 0 FLT4,missense_variant,p.Arg1075Gln,ENST00000261937,NM_182925.4;FLT4,missense_variant,p.Arg1075Gln,ENST00000393347,NM_002020.4;FLT4,missense_variant,p.Arg1075Gln,ENST00000502649,NM_001354989.1;FLT4,missense_variant,p.Arg113Gln,ENST00000512795,;FLT4,3_prime_UTR_variant,,ENST00000619105,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,non_coding_transcript_exon_variant,,ENST00000514810,;FLT4,upstream_gene_variant,,ENST00000502603,;FLT4,upstream_gene_variant,,ENST00000510000,; T ENSG00000037280 ENST00000261937 Transcript missense_variant 3303/5857 3224/4092 1075/1363 R/Q cGg/cAg rs1400220848,COSM5996445,COSM5996444 1 -1 FLT4 HGNC HGNC:3767 protein_coding YES CCDS4457.1 ENSP00000261937 P35916 UPI00001488E7 NM_182925.4 deleterious(0.01) probably_damaging(1) 24/30 cd05102,PIRSF_domain:PIRSF000615,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CCG . . 1.34e-05 0.0002103 180614175 DHX16 . GRCh38 chr6 30662655 30662655 + Missense_Mutation SNP G G C novel 7316-1789 BS_XHT3F34T G G c.1516C>G p.Leu506Val p.L506V ENST00000376442 9/20 47 26 21 52 52 0 DHX16,missense_variant,p.Leu506Val,ENST00000376442,NM_003587.4,NM_001164239.1;DHX16,upstream_gene_variant,,ENST00000376437,;DHX16,downstream_gene_variant,,ENST00000415603,;DHX16,upstream_gene_variant,,ENST00000480966,; C ENSG00000204560 ENST00000376442 Transcript missense_variant 1712/3445 1516/3126 506/1041 L/V Ctc/Gtc 1 -1 DHX16 HGNC HGNC:2739 protein_coding YES CCDS4685.1 ENSP00000365625 O60231 Q5SQH4 UPI000000D73D NM_003587.4,NM_001164239.1 deleterious(0.02) probably_damaging(0.93) 9/20 Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF83,SMART_domains:SM00487,Superfamily_domains:SSF52540,cd00046 MODERATE 1 SNV 1 PASS AGG . . 30662655 MUCL3 . GRCh38 chr6 30949534 30949534 + Missense_Mutation SNP T T C rs1284034099 7316-1789 BS_XHT3F34T T T c.1070T>C p.Phe357Ser p.F357S ENST00000462446 2/3 40 29 10 49 47 2 MUCL3,missense_variant,p.Phe424Ser,ENST00000636043,;MUCL3,missense_variant,p.Phe357Ser,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,; C ENSG00000168631 ENST00000462446 Transcript missense_variant 1098/5314 1070/4182 357/1393 F/S tTc/tCc rs1284034099 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.71) benign(0) 2/3 mobidb-lite MODERATE SNV 5 1 PASS TTC . . 30949534 CGA . GRCh38 chr6 87086367 87086367 + Missense_Mutation SNP G G C novel 7316-1789 BS_XHT3F34T G G c.249C>G p.Cys83Trp p.C83W ENST00000610310 4/5 48 23 24 42 41 0 CGA,missense_variant,p.Cys52Trp,ENST00000627148,NM_000735.3;CGA,missense_variant,p.Cys52Trp,ENST00000630630,;CGA,missense_variant,p.Cys52Trp,ENST00000369582,;CGA,missense_variant,p.Cys83Trp,ENST00000610310,NM_001252383.1;CGA,missense_variant,p.Cys52Trp,ENST00000625577,;RN7SKP209,downstream_gene_variant,,ENST00000516888,;CGA,downstream_gene_variant,,ENST00000627552,; C ENSG00000135346 ENST00000610310 Transcript missense_variant 348/615 249/444 83/147 C/W tgC/tgG 1 -1 CGA HGNC HGNC:1885 protein_coding YES CCDS75492.1 ENSP00000482232 A0A087WYZ4 UPI00005AF4BC NM_001252383.1 deleterious(0) probably_damaging(0.998) 4/5 PROSITE_profiles:PS50277,hmmpanther:PTHR11509,PROSITE_patterns:PS00779,Pfam_domain:PF00236,Gene3D:2.10.90.10,SMART_domains:SM00067,Superfamily_domains:SSF57501,Prints_domain:PR00274 MODERATE 1 SNV 3 PASS TGC . . 87086367 TNS3 . GRCh38 chr7 47506947 47506947 + Splice_Region DEL G G - rs371560985 7316-1789 BS_XHT3F34T G G c.-152-3del ENST00000311160 100 78 10 39 37 0 TNS3,splice_region_variant,,ENST00000311160,NM_022748.11;TNS3,splice_region_variant,,ENST00000434451,;TNS3,splice_region_variant,,ENST00000442536,;TNS3,splice_region_variant,,ENST00000450444,;TNS3,splice_region_variant,,ENST00000457718,;TNS3,splice_region_variant,,ENST00000458317,; - ENSG00000136205 ENST00000311160 Transcript splice_region_variant,intron_variant rs371560985 1 -1 TNS3 HGNC HGNC:21616 protein_coding YES CCDS5506.2 ENSP00000312143 Q68CZ2 UPI00001AE9DA NM_022748.11 2/30 LOW 1 deletion 1 PASS CTGG . . 0.0576 0.01345 0.08522 0.03922 0.09721 0.04501 0.06004 0.06287 0.03603 47506946 ZP3 . GRCh38 chr7 76425167 76425167 + Missense_Mutation SNP C C T novel 7316-1789 BS_XHT3F34T C C c.203C>T p.Ala68Val p.A68V ENST00000394857 1/8 53 26 25 61 61 0 ZP3,missense_variant,p.Ala17Val,ENST00000336517,NM_007155.5;ZP3,missense_variant,p.Ala68Val,ENST00000394857,NM_001110354.1;ZP3,upstream_gene_variant,,ENST00000416245,; T ENSG00000188372 ENST00000394857 Transcript missense_variant 261/1348 203/1275 68/424 A/V gCt/gTt 1 1 ZP3 HGNC HGNC:13189 protein_coding YES CCDS47618.1 ENSP00000378326 P21754 UPI000013CF77 NM_001110354.1 tolerated(0.07) possibly_damaging(0.532) 1/8 PROSITE_profiles:PS51034,hmmpanther:PTHR11576:SF2,hmmpanther:PTHR11576,Pfam_domain:PF00100,SMART_domains:SM00241 MODERATE 1 SNV 1 1 PASS GCT . . 76425167 EXOC4 . GRCh38 chr7 133305920 133305920 + Missense_Mutation SNP A A C novel 7316-1789 BS_XHT3F34T A A c.515A>C p.Glu172Ala p.E172A ENST00000253861 4/18 68 31 36 47 46 0 EXOC4,missense_variant,p.Glu172Ala,ENST00000253861,NM_021807.3;EXOC4,missense_variant,p.Glu172Ala,ENST00000393161,NM_001037126.1;EXOC4,downstream_gene_variant,,ENST00000492326,;EXOC4,non_coding_transcript_exon_variant,,ENST00000462055,;EXOC4,non_coding_transcript_exon_variant,,ENST00000486013,; C ENSG00000131558 ENST00000253861 Transcript missense_variant 544/4185 515/2925 172/974 E/A gAa/gCa 1 1 EXOC4 HGNC HGNC:30389 protein_coding YES CCDS5829.1 ENSP00000253861 Q96A65 UPI0000135758 NM_021807.3 deleterious(0.01) possibly_damaging(0.76) 4/18 hmmpanther:PTHR14146 MODERATE 1 SNV 1 PASS GAA . . 133305920 LINC01605 . GRCh38 chr8 37531403 37531404 + Splice_Region INS - - A rs1482404064 7316-1789 BS_XHT3F34T - - n.163-6dup ENST00000519738 57 25 23 39 34 0 LINC01605,splice_region_variant,,ENST00000519738,;LINC01605,intron_variant,,ENST00000517363,; A ENSG00000253161 ENST00000519738 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1482404064 1 -1 LINC01605 HGNC HGNC:51654 lincRNA 1/5 LOW insertion 5 PASS CTA . . 37531403 ZMAT4 . GRCh38 chr8 40532227 40532227 + Frame_Shift_Del DEL T T - novel 7316-1789 BS_XHT3F34T T T c.686del p.Lys229SerfsTer14 p.K229Sfs*14 ENST00000297737 7/7 64 46 13 38 38 0 ZMAT4,frameshift_variant,p.Lys229SerfsTer14,ENST00000297737,NM_024645.2;ZMAT4,frameshift_variant,p.Lys153SerfsTer14,ENST00000315769,NM_001135731.1; - ENSG00000165061 ENST00000297737 Transcript frameshift_variant 833/2466 686/690 229/229 K/X aAg/ag 1 -1 ZMAT4 HGNC HGNC:25844 protein_coding YES CCDS34885.1 ENSP00000297737 Q9H898 UPI0000046C33 NM_024645.2 7/7 SMART_domains:SM00451 HIGH 1 deletion 2 PASS ACTT . . 40532226 SLCO5A1 . GRCh38 chr8 69755643 69755644 + Splice_Region INS - - A novel 7316-1789 BS_XHT3F34T - - c.1041-3dup ENST00000260126 81 49 28 45 45 0 SLCO5A1,splice_region_variant,,ENST00000260126,NM_030958.2;SLCO5A1,splice_region_variant,,ENST00000524945,NM_001146008.1;SLCO5A1,splice_region_variant,,ENST00000530307,NM_001146009.1;SLCO5A1,splice_region_variant,,ENST00000532388,;SLCO5A1,intron_variant,,ENST00000526750,; A ENSG00000137571 ENST00000260126 Transcript splice_region_variant,intron_variant 1 -1 SLCO5A1 HGNC HGNC:19046 protein_coding YES CCDS6205.1 ENSP00000260126 Q9H2Y9 UPI0000140F53 NM_030958.2 3/9 LOW 1 insertion 1 PASS CTA . . 69755643 ZFHX4 . GRCh38 chr8 76833373 76833373 + Missense_Mutation SNP G G A 7316-1789 BS_XHT3F34T G G c.3361G>A p.Asp1121Asn p.D1121N ENST00000521891 5/11 79 74 5 47 47 0 ZFHX4,missense_variant,p.Asp1121Asn,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Asp1095Asn,ENST00000518282,;ZFHX4,missense_variant,p.Asp66Asn,ENST00000523625,;ZFHX4,3_prime_UTR_variant,,ENST00000519536,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000524290,; A ENSG00000091656 ENST00000521891 Transcript missense_variant 3809/14019 3361/10851 1121/3616 D/N Gat/Aat COSM6181474,COSM6181475 1 1 ZFHX4 HGNC HGNC:30939 protein_coding YES CCDS47878.2 ENSP00000430497 Q86UP3 UPI0000424CC7 NM_024721.4 tolerated(0.34) benign(0) 5/11 Gene3D:2.160.10.10,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,mobidb-lite 1,1 MODERATE 1 SNV 5 1,1 1 PASS TGA . . 76833373 INSL6 . GRCh38 chr9 5185527 5185527 + Missense_Mutation SNP T T A novel 7316-1789 BS_XHT3F34T T T c.76A>T p.Ile26Phe p.I26F ENST00000381641 1/2 47 39 5 40 40 0 INSL6,missense_variant,p.Ile26Phe,ENST00000381641,NM_007179.2; A ENSG00000120210 ENST00000381641 Transcript missense_variant 142/758 76/642 26/213 I/F Atc/Ttc 1 -1 INSL6 HGNC HGNC:6089 protein_coding YES CCDS6458.1 ENSP00000371054 Q9Y581 UPI000012D681 NM_007179.2 tolerated(0.06) benign(0.086) 1/2 Gene3D:1.10.100.10,PIRSF_domain:PIRSF037062,hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF1,Superfamily_domains:SSF56994 MODERATE 1 SNV 1 PASS ATG . . 5185527 TYRP1 . GRCh38 chr9 12698640 12698640 + Missense_Mutation SNP G G A 7316-1789 BS_XHT3F34T G G c.898G>A p.Gly300Arg p.G300R ENST00000388918 4/8 67 48 16 61 61 0 TYRP1,missense_variant,p.Gly300Arg,ENST00000388918,NM_000550.2;TYRP1,intron_variant,,ENST00000381136,;TYRP1,downstream_gene_variant,,ENST00000473763,;LURAP1L-AS1,downstream_gene_variant,,ENST00000417638,;TYRP1,non_coding_transcript_exon_variant,,ENST00000381142,;TYRP1,upstream_gene_variant,,ENST00000470909,;TYRP1,downstream_gene_variant,,ENST00000459790,;,regulatory_region_variant,,ENSR00000233083,; A ENSG00000107165 ENST00000388918 Transcript missense_variant 1027/2851 898/1614 300/537 G/R Gga/Aga COSM1105047 1 1 TYRP1 HGNC HGNC:12450 protein_coding YES CCDS34990.1 ENSP00000373570 P17643 UPI0000039DCA NM_000550.2 tolerated(0.77) probably_damaging(1) 4/8 PDB-ENSP_mappings:5m8l.A,PDB-ENSP_mappings:5m8l.B,PDB-ENSP_mappings:5m8l.C,PDB-ENSP_mappings:5m8l.D,PDB-ENSP_mappings:5m8m.A,PDB-ENSP_mappings:5m8m.B,PDB-ENSP_mappings:5m8m.C,PDB-ENSP_mappings:5m8m.D,PDB-ENSP_mappings:5m8n.A,PDB-ENSP_mappings:5m8n.B,PDB-ENSP_mappings:5m8n.C,PDB-ENSP_mappings:5m8n.D,PDB-ENSP_mappings:5m8o.A,PDB-ENSP_mappings:5m8o.B,PDB-ENSP_mappings:5m8o.C,PDB-ENSP_mappings:5m8o.D,PDB-ENSP_mappings:5m8p.A,PDB-ENSP_mappings:5m8p.B,PDB-ENSP_mappings:5m8p.C,PDB-ENSP_mappings:5m8p.D,PDB-ENSP_mappings:5m8q.A,PDB-ENSP_mappings:5m8q.B,PDB-ENSP_mappings:5m8q.C,PDB-ENSP_mappings:5m8q.D,PDB-ENSP_mappings:5m8r.A,PDB-ENSP_mappings:5m8r.B,PDB-ENSP_mappings:5m8r.C,PDB-ENSP_mappings:5m8r.D,PDB-ENSP_mappings:5m8t.A,PDB-ENSP_mappings:5m8t.B,PDB-ENSP_mappings:5m8t.C,PDB-ENSP_mappings:5m8t.D,hmmpanther:PTHR11474:SF3,hmmpanther:PTHR11474,Gene3D:1.10.1280.10,Pfam_domain:PF00264,Superfamily_domains:SSF48056 1 MODERATE 1 SNV 1 1 1 PASS GGG . . 12698640 LINGO2 . GRCh38 chr9 27948915 27948915 + Missense_Mutation SNP T T A rs771706677 7316-1789 BS_XHT3F34T T T c.1757A>T p.Asn586Ile p.N586I ENST00000379992 6/6 69 45 21 38 38 0 LINGO2,missense_variant,p.Asn586Ile,ENST00000379992,NM_152570.2,NM_001258282.1;LINGO2,missense_variant,p.Asn586Ile,ENST00000308675,;LINGO2,missense_variant,p.Asn586Ile,ENST00000613945,;AL353746.1,upstream_gene_variant,,ENST00000566293,; A ENSG00000174482 ENST00000379992 Transcript missense_variant 2207/3044 1757/1821 586/606 N/I aAc/aTc rs771706677 1 -1 LINGO2 HGNC HGNC:21207 protein_coding YES CCDS6524.1 ENSP00000369328 Q7L985 UPI000004C7CD NM_152570.2,NM_001258282.1 tolerated(0.09) benign(0.04) 6/6 hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38 MODERATE 1 SNV 5 PASS GTT . . 8.131e-06 8.968e-06 3.25e-05 27948915 C10orf67 . GRCh38 chr10 23344578 23344579 + Frame_Shift_Ins INS - - CG novel 7316-1789 BS_XHT3F34T - - c.198_199dup p.Gly67AlafsTer12 p.G67Afs*12 ENST00000323327 1/5 74 42 24 45 45 0 C10orf67,frameshift_variant,p.Gly67AlafsTer12,ENST00000636213,;C10orf67,frameshift_variant,p.Gly67AlafsTer12,ENST00000323327,NM_153714.2;C10orf67,upstream_gene_variant,,ENST00000376500,;AL606469.1,non_coding_transcript_exon_variant,,ENST00000443224,;C10orf67,frameshift_variant,p.Gly40AlafsTer12,ENST00000376501,;,regulatory_region_variant,,ENSR00000025567,; CG ENSG00000179133 ENST00000323327 Transcript frameshift_variant 267-268/2799 199-200/558 67/185 G/AX ggg/gCGgg 1 -1 C10orf67 HGNC HGNC:28716 protein_coding YES CCDS44365.1 ENSP00000321464 Q8IYJ2 UPI0000456365 NM_153714.2 1/5 hmmpanther:PTHR22382 HIGH 1 insertion 1 PASS CCC . . 23344578 GPR158 . GRCh38 chr10 25551007 25551007 + Missense_Mutation SNP T T G novel 7316-1789 BS_XHT3F34T T T c.1436T>G p.Phe479Cys p.F479C ENST00000376351 6/11 82 60 21 48 48 0 GPR158,missense_variant,p.Phe479Cys,ENST00000376351,NM_020752.2; G ENSG00000151025 ENST00000376351 Transcript missense_variant 1795/6959 1436/3648 479/1215 F/C tTt/tGt 1 1 GPR158 HGNC HGNC:23689 protein_coding YES CCDS31166.1 ENSP00000365529 Q5T848 UPI0000199875 NM_020752.2 deleterious(0) probably_damaging(0.999) 6/11 PROSITE_profiles:PS50259,cd15293,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Pfam_domain:PF00003 MODERATE 1 SNV 1 PASS TTT . . 25551007 ECHS1 . GRCh38 chr10 133366934 133366934 + Missense_Mutation SNP C C A rs1481117533 7316-1789 BS_XHT3F34T C C c.574G>T p.Val192Phe p.V192F ENST00000368547 5/8 84 57 25 49 49 0 ECHS1,missense_variant,p.Val192Phe,ENST00000368547,NM_004092.3;MIR3944,downstream_gene_variant,,ENST00000581277,; A ENSG00000127884 ENST00000368547 Transcript missense_variant 930/1617 574/873 192/290 V/F Gtc/Ttc rs1481117533,COSM6860790 1 -1 ECHS1 HGNC HGNC:3151 protein_coding YES CCDS7681.1 ENSP00000357535 P30084 UPI000013CC49 NM_004092.3 deleterious(0) probably_damaging(0.946) 5/8 PDB-ENSP_mappings:2hw5.A,PDB-ENSP_mappings:2hw5.B,PDB-ENSP_mappings:2hw5.C,PDB-ENSP_mappings:2hw5.D,PDB-ENSP_mappings:2hw5.E,PDB-ENSP_mappings:2hw5.F,cd06558,hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF54,Pfam_domain:PF00378,Gene3D:3.90.226.10,Superfamily_domains:SSF52096 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACC . . 133366934 ANO9 . GRCh38 chr11 420567 420567 + Missense_Mutation SNP G G A rs774993188 7316-1789 BS_XHT3F34T G G c.1682C>T p.Ala561Val p.A561V ENST00000332826 19/23 94 88 6 34 34 0 ANO9,missense_variant,p.Ala561Val,ENST00000332826,NM_001012302.2;SIGIRR,upstream_gene_variant,,ENST00000332725,NM_001135053.1,NM_021805.2;SIGIRR,upstream_gene_variant,,ENST00000397632,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000526142,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,non_coding_transcript_exon_variant,,ENST00000534161,;ANO9,upstream_gene_variant,,ENST00000524802,;ANO9,downstream_gene_variant,,ENST00000525804,;SIGIRR,upstream_gene_variant,,ENST00000527295,;,regulatory_region_variant,,ENSR00000035624,; A ENSG00000185101 ENST00000332826 Transcript missense_variant 1767/2542 1682/2349 561/782 A/V gCg/gTg rs774993188,COSM3782624 1 -1 ANO9 HGNC HGNC:20679 protein_coding YES CCDS31326.1 ENSP00000332788 A1A5B4 UPI0001505B10 NM_001012302.2 deleterious(0) probably_damaging(0.995) 19/23 Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF37,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 1.292e-05 0.0001176 9.414e-06 420567 MUC5AC . GRCh38 chr11 1186319 1186319 + Missense_Mutation SNP T T C rs1277084074 7316-1789 BS_XHT3F34T T T c.8174T>C p.Ile2725Thr p.I2725T ENST00000621226 31/49 120 97 16 57 54 0 MUC5AC,missense_variant,p.Ile2725Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 8221/17448 8174/16965 2725/5654 I/T aTc/aCc rs1277084074 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.74) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 1186319 KCNQ1 . GRCh38 chr11 2572078 2572078 + Missense_Mutation SNP T T G 7316-1789 BS_XHT3F34T T T c.749T>G p.Leu250Arg p.L250R ENST00000155840 5/16 107 82 24 53 53 0 KCNQ1,missense_variant,p.Leu250Arg,ENST00000155840,NM_000218.2;KCNQ1,missense_variant,p.Leu123Arg,ENST00000335475,NM_181798.1;KCNQ1,missense_variant,p.Leu163Arg,ENST00000496887,;KCNQ1,intron_variant,,ENST00000646564,; G ENSG00000053918 ENST00000155840 Transcript missense_variant 857/3246 749/2031 250/676 L/R cTc/cGc CM981124,CM097161 1 1 KCNQ1 HGNC HGNC:6294 protein_coding YES CCDS7736.1 ENSP00000155840 P51787 UPI000004662D NM_000218.2 deleterious(0) probably_damaging(0.974) 5/16 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF109,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169,Prints_domain:PR01459 MODERATE 1 SNV 1 1,1 1 PASS CTC . . 2572078 OR52N1 . GRCh38 chr11 5788653 5788653 + Missense_Mutation SNP T T C novel 7316-1789 BS_XHT3F34T T T c.164A>G p.Glu55Gly p.E55G ENST00000641645 2/2 138 128 6 45 45 0 OR52N1,missense_variant,p.Glu55Gly,ENST00000641645,;OR52N1,missense_variant,p.Glu55Gly,ENST00000317078,NM_001001913.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,; C ENSG00000181001 ENST00000641645 Transcript missense_variant 363/2545 164/963 55/320 E/G gAg/gGg 1 -1 OR52N1 HGNC HGNC:14853 protein_coding YES CCDS31398.1 ENSP00000493272 Q8NH53 UPI0000041BDD tolerated(0.13) benign(0.341) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF145,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS CTC . . 5788653 OR10A2 . GRCh38 chr11 6869765 6869765 + Missense_Mutation SNP C C A novel 7316-1789 BS_XHT3F34T C C c.11C>A p.Ser4Tyr p.S4Y ENST00000641461 2/2 113 81 30 54 54 0 OR10A2,missense_variant,p.Ser4Tyr,ENST00000641461,;OR10A2,missense_variant,p.Ser4Tyr,ENST00000307322,NM_001004460.1;AC087280.2,intron_variant,,ENST00000637205,; A ENSG00000170790 ENST00000641461 Transcript missense_variant 438/5390 11/912 4/303 S/Y tCt/tAt 1 1 OR10A2 HGNC HGNC:8161 protein_coding YES CCDS31415.1 ENSP00000493131 Q9H208 UPI000015F21C deleterious(0.01) possibly_damaging(0.627) 2/2 Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148 MODERATE SNV PASS TCT . . 6869765 OR10A2 . GRCh38 chr11 6869800 6869800 + Missense_Mutation SNP C C A novel 7316-1789 BS_XHT3F34T C C c.46C>A p.Leu16Met p.L16M ENST00000641461 2/2 115 79 31 53 52 0 OR10A2,missense_variant,p.Leu16Met,ENST00000641461,;OR10A2,missense_variant,p.Leu16Met,ENST00000307322,NM_001004460.1;AC087280.2,intron_variant,,ENST00000637205,; A ENSG00000170790 ENST00000641461 Transcript missense_variant 473/5390 46/912 16/303 L/M Ctg/Atg 1 1 OR10A2 HGNC HGNC:8161 protein_coding YES CCDS31415.1 ENSP00000493131 Q9H208 UPI000015F21C tolerated(0.23) benign(0.01) 2/2 Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15225 MODERATE SNV PASS TCT . . 6869800 OR10A2 . GRCh38 chr11 6870357 6870357 + Missense_Mutation SNP C C G novel 7316-1789 BS_XHT3F34T C C c.603C>G p.Ile201Met p.I201M ENST00000641461 2/2 105 78 25 45 45 0 OR10A2,missense_variant,p.Ile201Met,ENST00000641461,;OR10A2,missense_variant,p.Ile201Met,ENST00000307322,NM_001004460.1;AC087280.2,intron_variant,,ENST00000637205,; G ENSG00000170790 ENST00000641461 Transcript missense_variant 1030/5390 603/912 201/303 I/M atC/atG 1 1 OR10A2 HGNC HGNC:8161 protein_coding YES CCDS31415.1 ENSP00000493131 Q9H208 UPI000015F21C deleterious(0) probably_damaging(0.961) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15225 MODERATE SNV PASS TCT . . 6870357 PDHX . GRCh38 chr11 34966654 34966654 + Missense_Mutation SNP T T A novel 7316-1789 BS_XHT3F34T T T c.656T>A p.Leu219His p.L219H ENST00000227868 6/11 44 34 9 45 45 0 PDHX,missense_variant,p.Leu204His,ENST00000448838,NM_001135024.1;PDHX,missense_variant,p.Leu219His,ENST00000227868,NM_003477.2;PDHX,intron_variant,,ENST00000430469,NM_001166158.1; A ENSG00000110435 ENST00000227868 Transcript missense_variant 740/2389 656/1506 219/501 L/H cTt/cAt 1 1 PDHX HGNC HGNC:21350 protein_coding YES CCDS7896.1 ENSP00000227868 O00330 UPI0000130C34 NM_003477.2 tolerated(0.15) benign(0.04) 6/11 Gene3D:4.10.320.10,PROSITE_profiles:PS51826,hmmpanther:PTHR23151,hmmpanther:PTHR23151:SF57,Superfamily_domains:SSF47005 MODERATE 1 SNV 1 1 PASS CTT . . 34966654 PRDM11 . GRCh38 chr11 45224759 45224759 + Missense_Mutation SNP G G T 7316-1789 BS_XHT3F34T G G c.1285G>T p.Asp429Tyr p.D429Y ENST00000622142 7/8 81 75 6 52 52 0 PRDM11,missense_variant,p.Asp429Tyr,ENST00000622142,NM_001256695.1;PRDM11,missense_variant,p.Asp429Tyr,ENST00000424263,NM_001256696.1;PRDM11,missense_variant,p.Asp463Tyr,ENST00000530656,;AC103681.2,intron_variant,,ENST00000527450,;PRDM11,intron_variant,,ENST00000528980,; T ENSG00000019485 ENST00000622142 Transcript missense_variant 1530/10730 1285/3534 429/1177 D/Y Gac/Tac COSM6872304 1 1 PRDM11 HGNC HGNC:13996 protein_coding YES CCDS73277.1 ENSP00000480626 A0A087WWZ6 UPI00024F1FD7 NM_001256695.1 deleterious_low_confidence(0.01) probably_damaging(0.999) 7/8 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16515:SF11,hmmpanther:PTHR16515 1 MODERATE SNV 5 1 PASS AGA . . 45224759 KRTAP5-8 . GRCh38 chr11 71538319 71538319 + Nonsense_Mutation SNP C C A 7316-1789 BS_XHT3F34T C C c.264C>A p.Cys88Ter p.C88* ENST00000398534 1/1 87 64 20 47 46 0 KRTAP5-8,stop_gained,p.Cys88Ter,ENST00000398534,NM_021046.2;,regulatory_region_variant,,ENSR00000041593,; A ENSG00000241233 ENST00000398534 Transcript stop_gained 295/1183 264/564 88/187 C/* tgC/tgA COSM6399504,COSM3676296 1 1 KRTAP5-8 HGNC HGNC:23603 protein_coding YES CCDS41683.1 ENSP00000420723 O75690 UPI000013ECDA NM_021046.2 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF131,Low_complexity_(Seg):seg 1,1 HIGH 1 SNV 1,1 PASS GCA . . 71538319 DNAJB13 . GRCh38 chr11 73968424 73968424 + Missense_Mutation SNP A A C novel 7316-1789 BS_XHT3F34T A A c.686A>C p.Asn229Thr p.N229T ENST00000339764 6/8 50 37 12 58 57 1 DNAJB13,missense_variant,p.Asn229Thr,ENST00000339764,NM_153614.3;DNAJB13,missense_variant,p.Asn54Thr,ENST00000543947,;DNAJB13,missense_variant,p.Asn54Thr,ENST00000537753,;DNAJB13,missense_variant,p.Asn130Thr,ENST00000542350,;AP003717.1,non_coding_transcript_exon_variant,,ENST00000537019,;AP003717.1,upstream_gene_variant,,ENST00000540886,; C ENSG00000187726 ENST00000339764 Transcript missense_variant 1437/1875 686/951 229/316 N/T aAc/aCc 1 1 DNAJB13 HGNC HGNC:30718 protein_coding YES CCDS8227.1 ENSP00000344431 P59910 UPI00001BFAF7 NM_153614.3 deleterious(0.02) benign(0.031) 6/8 cd10747,Gene3D:2.60.260.20,Pfam_domain:PF01556,Superfamily_domains:SSF49493,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF213 MODERATE 1 SNV 1 1 PASS AAC . . 73968424 CNTN5 . GRCh38 chr11 100061253 100061253 + Missense_Mutation SNP T T A novel 7316-1789 BS_XHT3F34T T T c.1022T>A p.Ile341Asn p.I341N ENST00000524871 10/25 69 62 6 50 50 0 CNTN5,missense_variant,p.Ile341Asn,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Ile325Asn,ENST00000279463,;CNTN5,missense_variant,p.Ile263Asn,ENST00000619298,;CNTN5,missense_variant,p.Ile341Asn,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Ile341Asn,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Ile267Asn,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,; A ENSG00000149972 ENST00000524871 Transcript missense_variant 1312/6258 1022/3303 341/1100 I/N aTt/aAt 1 1 CNTN5 HGNC HGNC:2175 protein_coding YES CCDS53696.1 ENSP00000435637 O94779 UPI000006DAB0 NM_014361.3 tolerated(0.11) benign(0.065) 10/25 Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR43905,hmmpanther:PTHR43905:SF3,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS ATT . . 100061253 ATM . GRCh38 chr11 108304722 108304722 + Missense_Mutation SNP T T G novel 7316-1789 BS_XHT3F34T T T c.5544T>G p.Asp1848Glu p.D1848E ENST00000278616 37/63 91 52 38 52 50 0 ATM,missense_variant,p.Asp1848Glu,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Asp1848Glu,ENST00000452508,NM_001351834.1;C11orf65,downstream_gene_variant,,ENST00000525729,NM_001330368.1;ATM,upstream_gene_variant,,ENST00000532765,;ATM,missense_variant,p.Asp19Glu,ENST00000529588,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,downstream_gene_variant,,ENST00000534625,; G ENSG00000149311 ENST00000278616 Transcript missense_variant 5929/13147 5544/9171 1848/3056 D/E gaT/gaG 1 1 ATM HGNC HGNC:795 protein_coding YES CCDS31669.1 ENSP00000278616 Q13315 A0A024R3C7 UPI000016B511 NM_000051.3 tolerated(0.07) benign(0.132) 37/63 Gene3D:1.25.10.20,PDB-ENSP_mappings:5np0.A,PDB-ENSP_mappings:5np0.B,PDB-ENSP_mappings:5np1.A,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF96 MODERATE 1 SNV 5 1 PASS ATA . . 108304722 B4GALNT3 . GRCh38 chr12 556729 556729 + Missense_Mutation SNP G G A rs534141372 7316-1789 BS_XHT3F34T G G c.2243G>A p.Arg748Gln p.R748Q ENST00000266383 15/20 73 49 23 44 44 0 B4GALNT3,missense_variant,p.Arg748Gln,ENST00000266383,NM_173593.3;B4GALNT3,downstream_gene_variant,,ENST00000322843,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,; A ENSG00000139044 ENST00000266383 Transcript missense_variant 2256/5068 2243/2997 748/998 R/Q cGg/cAg rs534141372 1 1 B4GALNT3 HGNC HGNC:24137 protein_coding YES CCDS8504.1 ENSP00000266383 Q6L9W6 UPI0000366851 NM_173593.3 tolerated(0.09) possibly_damaging(0.73) 15/20 Gene3D:3.90.182.10,Pfam_domain:PF05679,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF15 0.0002 0.001 MODERATE 1 SNV 1 PASS CGG . . 6.113e-05 5.809e-05 3.597e-05 0.000325 556729 KCNA6 . GRCh38 chr12 4811377 4811377 + Missense_Mutation SNP G G T novel 7316-1789 BS_XHT3F34T G G c.1336G>T p.Gly446Trp p.G446W ENST00000280684 1/1 231 211 18 50 50 0 GALNT8,missense_variant,p.Gly446Trp,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Gly446Trp,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;AC005833.3,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,; T ENSG00000151079 ENST00000280684 Transcript missense_variant 2202/4237 1336/1590 446/529 G/W Ggg/Tgg 1 1 KCNA6 HGNC HGNC:6225 protein_coding YES CCDS8534.1 ENSP00000280684 P17658 UPI00001279AD deleterious(0) probably_damaging(1) 1/1 Gene3D:1.20.5.110,Pfam_domain:PF00520,Prints_domain:PR00169,Prints_domain:PR01491,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF104,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix MODERATE SNV PASS TGG . . 4811377 KCNA6 . GRCh38 chr12 4811384 4811384 + Missense_Mutation SNP T T G novel 7316-1789 BS_XHT3F34T T T c.1343T>G p.Leu448Arg p.L448R ENST00000280684 1/1 235 212 19 51 51 0 GALNT8,missense_variant,p.Leu448Arg,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Leu448Arg,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;AC005833.3,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,; G ENSG00000151079 ENST00000280684 Transcript missense_variant 2209/4237 1343/1590 448/529 L/R cTc/cGc 1 1 KCNA6 HGNC HGNC:6225 protein_coding YES CCDS8534.1 ENSP00000280684 P17658 UPI00001279AD deleterious(0) probably_damaging(1) 1/1 Gene3D:1.20.5.110,Pfam_domain:PF00520,Prints_domain:PR00169,Prints_domain:PR01491,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF104,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix MODERATE SNV PASS CTC . . 4811384 C1S . GRCh38 chr12 7067075 7067075 + Missense_Mutation SNP C C G novel 7316-1789 BS_XHT3F34T C C c.1024C>G p.Gln342Glu p.Q342E ENST00000406697 12/15 287 260 24 48 48 0 C1S,missense_variant,p.Gln342Glu,ENST00000406697,;C1S,missense_variant,p.Gln342Glu,ENST00000328916,NM_201442.2;C1S,missense_variant,p.Gln330Glu,ENST00000617865,;C1S,missense_variant,p.Gln342Glu,ENST00000360817,NM_001734.3;C1S,missense_variant,p.Gln175Glu,ENST00000402681,NM_001346850.1;C1S,downstream_gene_variant,,ENST00000403949,;C1S,downstream_gene_variant,,ENST00000413211,;C1S,downstream_gene_variant,,ENST00000423384,;C1S,downstream_gene_variant,,ENST00000542978,;C1S,upstream_gene_variant,,ENST00000495061,;C1S,downstream_gene_variant,,ENST00000541647,;C1S,downstream_gene_variant,,ENST00000543187,;C1S,3_prime_UTR_variant,,ENST00000443875,;C1S,non_coding_transcript_exon_variant,,ENST00000461983,;C1S,non_coding_transcript_exon_variant,,ENST00000470326,;C1S,downstream_gene_variant,,ENST00000463798,;C1S,downstream_gene_variant,,ENST00000473545,;C1S,downstream_gene_variant,,ENST00000488701,;C1S,downstream_gene_variant,,ENST00000489541,;C1S,downstream_gene_variant,,ENST00000495053,;C1S,upstream_gene_variant,,ENST00000497061,; G ENSG00000182326 ENST00000406697 Transcript missense_variant 1652/3076 1024/2067 342/688 Q/E Caa/Gaa 1 1 C1S HGNC HGNC:1247 protein_coding YES CCDS31735.1 ENSP00000385035 P09871 UPI0000126BF6 deleterious(0.03) possibly_damaging(0.612) 12/15 Gene3D:2.10.70.10,PDB-ENSP_mappings:4j1y.A,PDB-ENSP_mappings:4j1y.B,PDB-ENSP_mappings:4los.A,PDB-ENSP_mappings:4lot.A,PDB-ENSP_mappings:5ubm.B,Pfam_domain:PF00084,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS50923,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF18,SMART_domains:SM00032,Superfamily_domains:SSF57535,cd00033 MODERATE 1 SNV 2 1 PASS TCA . . 7067075 CD163L1 . GRCh38 chr12 7432488 7432488 + Missense_Mutation SNP A A G novel 7316-1789 BS_XHT3F34T A A c.724T>C p.Trp242Arg p.W242R ENST00000416109 4/20 43 28 15 40 39 0 CD163L1,missense_variant,p.Trp232Arg,ENST00000313599,NM_174941.5;CD163L1,missense_variant,p.Trp242Arg,ENST00000416109,NM_001297650.1;CD163L1,downstream_gene_variant,,ENST00000543276,; G ENSG00000177675 ENST00000416109 Transcript missense_variant 743/4603 724/4392 242/1463 W/R Tgg/Cgg 1 -1 CD163L1 HGNC HGNC:30375 protein_coding YES CCDS73434.1 ENSP00000393474 Q9NR16 UPI0001AE6A76 NM_001297650.1 tolerated(0.31) possibly_damaging(0.879) 4/20 PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,Gene3D:4.10.790.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487 MODERATE 1 SNV 2 PASS CAG . . 7432488 TAS2R46 . GRCh38 chr12 11061426 11061426 + Missense_Mutation SNP A A T rs372278369 7316-1789 BS_XHT3F34T A A c.869T>A p.Phe290Tyr p.F290Y ENST00000533467 1/1 70 58 11 54 53 1 TAS2R46,missense_variant,p.Phe290Tyr,ENST00000533467,NM_176887.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; T ENSG00000226761 ENST00000533467 Transcript missense_variant 869/930 869/930 290/309 F/Y tTt/tAt rs372278369,COSM4594034,COSM4594033 1 -1 TAS2R46 HGNC HGNC:18877 protein_coding YES CCDS53748.1 ENSP00000436450 P59540 UPI000000D821 NM_176887.2 deleterious(0.02) benign(0.247) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF66,Superfamily_domains:SSF81321,cd15027 0,1,1 MODERATE SNV 0,1,1 PASS AAA . . 4.064e-06 4.489e-05 11061426 TAS2R46 . GRCh38 chr12 11061502 11061502 + Missense_Mutation SNP C C G rs768843374 7316-1789 BS_XHT3F34T C C c.793G>C p.Glu265Gln p.E265Q ENST00000533467 1/1 70 50 19 70 66 4 TAS2R46,missense_variant,p.Glu265Gln,ENST00000533467,NM_176887.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; G ENSG00000226761 ENST00000533467 Transcript missense_variant 793/930 793/930 265/309 E/Q Gaa/Caa rs768843374,COSM3927704,COSM3927703 1 -1 TAS2R46 HGNC HGNC:18877 protein_coding YES CCDS53748.1 ENSP00000436450 P59540 UPI000000D821 NM_176887.2 tolerated(1) benign(0.001) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF66,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15027 0,1,1 MODERATE SNV 0,1,1 PASS TCG . . 11061502 TAS2R46 . GRCh38 chr12 11061534 11061534 + Missense_Mutation SNP C C T rs76020872 7316-1789 BS_XHT3F34T C C c.761G>A p.Ser254Asn p.S254N ENST00000533467 1/1 73 56 16 68 65 3 TAS2R46,missense_variant,p.Ser254Asn,ENST00000533467,NM_176887.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; T ENSG00000226761 ENST00000533467 Transcript missense_variant 761/930 761/930 254/309 S/N aGt/aAt rs76020872,COSM4595137,COSM4595136 1 -1 TAS2R46 HGNC HGNC:18877 protein_coding YES CCDS53748.1 ENSP00000436450 P59540 UPI000000D821 NM_176887.2 tolerated(0.53) benign(0) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF66,Superfamily_domains:SSF81321,cd15027 0,1,1 MODERATE SNV 0,1,1 PASS ACT . . 4.065e-06 8.962e-06 11061534 TAS2R46 . GRCh38 chr12 11061856 11061856 + Missense_Mutation SNP T T C rs72477411 7316-1789 BS_XHT3F34T T T c.439A>G p.Ile147Val p.I147V ENST00000533467 1/1 70 60 8 40 39 0 TAS2R46,missense_variant,p.Ile147Val,ENST00000533467,NM_176887.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000226761 ENST00000533467 Transcript missense_variant 439/930 439/930 147/309 I/V Ata/Gta rs72477411,COSM4592129,COSM4592128 1 -1 TAS2R46 HGNC HGNC:18877 protein_coding YES CCDS53748.1 ENSP00000436450 P59540 UPI000000D821 NM_176887.2 tolerated(1) benign(0.003) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF66,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15027 0,1,1 MODERATE SNV 0,1,1 PASS ATC . . 0.1286 0.02836 0.08907 0.1476 0.1165 0.1324 0.1573 0.1111 0.1502 11061856 TAS2R46 . GRCh38 chr12 11061873 11061873 + Missense_Mutation SNP A A G rs200936852 7316-1789 BS_XHT3F34T A A c.422T>C p.Val141Ala p.V141A ENST00000533467 1/1 64 56 7 35 34 0 TAS2R46,missense_variant,p.Val141Ala,ENST00000533467,NM_176887.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; G ENSG00000226761 ENST00000533467 Transcript missense_variant 422/930 422/930 141/309 V/A gTt/gCt rs200936852,COSM3931512 1 -1 TAS2R46 HGNC HGNC:18877 protein_coding YES CCDS53748.1 ENSP00000436450 P59540 UPI000000D821 NM_176887.2 tolerated(0.16) benign(0.012) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF66,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15027,Low_complexity_(Seg):seg 0,1 MODERATE SNV 0,1 PASS AAC . . 0.02157 0.002037 0.01745 0.03839 0.0141 0.0258 0.02276 0.02836 0.03431 11061873 AL359538.1 . GRCh38 chr13 24594363 24594363 + Splice_Region SNP G G A rs4770716 7316-1789 BS_XHT3F34T G G n.1173G>A ENST00000453498 10/13 42 37 5 54 54 0 AL359538.1,splice_region_variant,,ENST00000453498,;TPTE2P6,splice_region_variant,,ENST00000440905,;TPTE2P6,splice_region_variant,,ENST00000450973,;TPTE2P6,splice_region_variant,,ENST00000445572,; A ENSG00000243008 ENST00000453498 Transcript splice_region_variant,non_coding_transcript_exon_variant 1173/1710 rs4770716 1 1 AL359538.1 Clone_based_ensembl_gene processed_transcript YES 10/13 0.1699 0.1914 0.183 0.0982 0.2634 0.1094 LOW 1 SNV 1 PASS CGG . . 24594363 FMN1 . GRCh38 chr15 33153762 33153762 + Missense_Mutation SNP G G A rs761558021 7316-1789 BS_XHT3F34T G G c.1153C>T p.Arg385Trp p.R385W ENST00000616417 4/21 50 45 5 46 46 0 FMN1,missense_variant,p.Arg385Trp,ENST00000616417,NM_001277313.1;FMN1,missense_variant,p.Arg385Trp,ENST00000559047,;FMN1,missense_variant,p.Arg385Trp,ENST00000561249,;FMN1,missense_variant,p.Arg385Trp,ENST00000320930,NM_001277314.1;,regulatory_region_variant,,ENSR00000074700,; A ENSG00000248905 ENST00000616417 Transcript missense_variant 1657/13529 1153/4260 385/1419 R/W Cgg/Tgg rs761558021 1 -1 FMN1 HGNC HGNC:3768 protein_coding YES CCDS61581.1 ENSP00000479134 Q68DA7 UPI0001AE68B4 NM_001277313.1 tolerated_low_confidence(0.27) benign(0) 4/21 mobidb-lite,hmmpanther:PTHR13037:SF11,hmmpanther:PTHR13037 MODERATE 1 SNV 5 PASS CGC . . 3.017e-05 1.943e-05 0.000133 33153762 PAK6 . GRCh38 chr15 40272980 40272980 + Missense_Mutation SNP G G C novel 7316-1789 BS_XHT3F34T G G c.1471G>C p.Asp491His p.D491H ENST00000560346 7/11 79 52 25 43 42 0 PAK6,missense_variant,p.Asp491His,ENST00000455577,NM_001276718.1;PAK6,missense_variant,p.Asp491His,ENST00000560346,;PAK6,missense_variant,p.Asp491His,ENST00000260404,NM_020168.5;BUB1B-PAK6,missense_variant,p.Asp491His,ENST00000441369,NM_001128628.2;PAK6,missense_variant,p.Asp491His,ENST00000542403,NM_001276717.1,NM_001128629.2;PAK6,downstream_gene_variant,,ENST00000557926,;BUB1B-PAK6,3_prime_UTR_variant,,ENST00000558658,;BUB1B-PAK6,3_prime_UTR_variant,,ENST00000453867,;PAK6,upstream_gene_variant,,ENST00000557808,; C ENSG00000137843 ENST00000560346 Transcript missense_variant 2054/4020 1471/2046 491/681 D/H Gac/Cac 1 1 PAK6 HGNC HGNC:16061 protein_coding YES CCDS10054.1 ENSP00000453858 Q9NQU5 A0A024R9Q4 UPI0000001C3B tolerated(0.09) benign(0.065) 7/11 PROSITE_profiles:PS50011,cd06659,hmmpanther:PTHR24361:SF182,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:3.30.200.20,Superfamily_domains:SSF56112 MODERATE SNV 5 PASS AGA . . 40272980 BAHD1 . GRCh38 chr15 40458921 40458921 + Missense_Mutation SNP C C T rs369397772 7316-1789 BS_XHT3F34T C C c.457C>T p.Arg153Cys p.R153C ENST00000416165 2/7 81 41 39 51 50 0 BAHD1,missense_variant,p.Arg153Cys,ENST00000561234,NM_001301132.1;BAHD1,missense_variant,p.Arg153Cys,ENST00000416165,NM_014952.4;BAHD1,missense_variant,p.Arg153Cys,ENST00000560846,;AC013356.3,upstream_gene_variant,,ENST00000558601,; T ENSG00000140320 ENST00000416165 Transcript missense_variant 528/4526 457/2343 153/780 R/C Cgc/Tgc rs369397772 1 1 BAHD1 HGNC HGNC:29153 protein_coding YES CCDS10058.1 ENSP00000396976 Q8TBE0 A0A024R9K2 UPI000013D778 NM_014952.4 tolerated(0.11) benign(0) 2/7 mobidb-lite,hmmpanther:PTHR12505:SF20,hmmpanther:PTHR12505 0.000229 0.0001168 MODERATE 1 SNV 1 PASS CCG . . 6.078e-05 0.0002483 5.882e-05 1.935e-05 0.0001059 40458921 ICE2 . GRCh38 chr15 60455009 60455009 + Missense_Mutation SNP C C A novel 7316-1789 BS_XHT3F34T C C c.937G>T p.Val313Phe p.V313F ENST00000261520 8/16 113 79 32 53 51 0 ICE2,missense_variant,p.Val313Phe,ENST00000261520,NM_024611.5,NM_001018089.2;ICE2,missense_variant,p.Val313Phe,ENST00000561114,NM_001276385.1;ICE2,missense_variant,p.Val313Phe,ENST00000558512,;ICE2,downstream_gene_variant,,ENST00000561087,;ICE2,3_prime_UTR_variant,,ENST00000558181,;ICE2,non_coding_transcript_exon_variant,,ENST00000558451,;ICE2,downstream_gene_variant,,ENST00000560668,;ICE2,downstream_gene_variant,,ENST00000560895,;ICE2,upstream_gene_variant,,ENST00000561328,;ICE2,downstream_gene_variant,,ENST00000561446,; A ENSG00000128915 ENST00000261520 Transcript missense_variant 1172/7209 937/2949 313/982 V/F Gtt/Ttt 1 -1 ICE2 HGNC HGNC:29885 protein_coding YES CCDS10176.1 ENSP00000261520 Q659A1 A0A024R5V9 UPI00001A828C NM_024611.5,NM_001018089.2 tolerated(0.18) possibly_damaging(0.888) 8/16 hmmpanther:PTHR14633 MODERATE 1 SNV 1 PASS ACA . . 60455009 MPI . GRCh38 chr15 74890557 74890557 + Missense_Mutation SNP A A G novel 7316-1789 BS_XHT3F34T A A c.47A>G p.Tyr16Cys p.Y16C ENST00000352410 2/8 97 76 20 50 50 0 MPI,missense_variant,p.Tyr16Cys,ENST00000352410,NM_002435.2;MPI,missense_variant,p.Tyr16Cys,ENST00000566377,NM_001289155.1;MPI,missense_variant,p.Tyr16Cys,ENST00000323744,NM_001289157.1;MPI,missense_variant,p.Tyr16Cys,ENST00000563422,;MPI,missense_variant,p.Tyr16Cys,ENST00000565576,;MPI,missense_variant,p.Tyr3Cys,ENST00000567177,;MPI,missense_variant,p.Tyr16Cys,ENST00000568828,;MPI,missense_variant,p.Tyr16Cys,ENST00000567132,;MPI,missense_variant,p.Tyr16Cys,ENST00000569233,;MPI,missense_variant,p.Tyr16Cys,ENST00000568907,;MPI,missense_variant,p.Tyr16Cys,ENST00000562800,;MPI,splice_region_variant,,ENST00000564633,;MPI,5_prime_UTR_variant,,ENST00000563786,;MPI,5_prime_UTR_variant,,ENST00000562606,;MPI,5_prime_UTR_variant,,ENST00000569931,;MPI,5_prime_UTR_variant,,ENST00000567570,;MPI,intron_variant,,ENST00000535694,NM_001289156.1;MPI,intron_variant,,ENST00000564003,;MPI,synonymous_variant,p.Val53=,ENST00000561470,;MPI,non_coding_transcript_exon_variant,,ENST00000568840,;MPI,non_coding_transcript_exon_variant,,ENST00000567116,;MPI,non_coding_transcript_exon_variant,,ENST00000568303,;MPI,upstream_gene_variant,,ENST00000566556,;,regulatory_region_variant,,ENSR00000079314,; G ENSG00000178802 ENST00000352410 Transcript missense_variant 114/5828 47/1272 16/423 Y/C tAt/tGt 1 1 MPI HGNC HGNC:7216 protein_coding YES CCDS10272.1 ENSP00000318318 P34949 UPI000000DB74 NM_002435.2 deleterious(0) probably_damaging(1) 2/8 Gene3D:2.60.120.10,Pfam_domain:PF01238,PIRSF_domain:PIRSF001480,Prints_domain:PR00714,hmmpanther:PTHR10309,hmmpanther:PTHR10309:SF0,Superfamily_domains:SSF51182,TIGRFAM_domain:TIGR00218 MODERATE 1 SNV 1 1 PASS TAT . . 74890557 OR1F1 . GRCh38 chr16 3204505 3204505 + Missense_Mutation SNP C C A rs147055076 7316-1789 BS_XHT3F34T C C c.259C>A p.Leu87Ile p.L87I ENST00000304646 1/1 41 24 17 44 44 0 OR1F1,missense_variant,p.Leu87Ile,ENST00000304646,NM_012360.1;AJ003147.2,intron_variant,,ENST00000576468,;,regulatory_region_variant,,ENSR00000279480,; A ENSG00000168124 ENST00000304646 Transcript missense_variant 259/942 259/939 87/312 L/I Ctc/Atc rs147055076 1 1 OR1F1 HGNC HGNC:8194 protein_coding YES CCDS10496.1 ENSP00000305424 O43749 UPI00000015B4 NM_012360.1 tolerated(0.15) benign(0.127) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF850,Superfamily_domains:SSF81321,cd15918 0.0006 0.0023 0.001821 MODERATE SNV PASS ACT . . 8.121e-05 0.001242 2.978e-05 3204505 EEF2K . GRCh38 chr16 22260462 22260462 + Missense_Mutation SNP A A G novel 7316-1789 BS_XHT3F34T A A c.1232A>G p.His411Arg p.H411R ENST00000263026 11/18 46 26 19 58 55 0 EEF2K,missense_variant,p.His411Arg,ENST00000263026,NM_013302.3;EEF2K,splice_region_variant,,ENST00000568269,;EEF2K,splice_region_variant,,ENST00000563555,; G ENSG00000103319 ENST00000263026 Transcript missense_variant,splice_region_variant 1706/7388 1232/2178 411/725 H/R cAt/cGt 1 1 EEF2K HGNC HGNC:24615 protein_coding YES CCDS10604.1 ENSP00000263026 O00418 UPI000013D387 NM_013302.3 tolerated(0.71) benign(0) 11/18 PIRSF_domain:PIRSF038139,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF56 MODERATE 1 SNV 5 PASS GAT . . 22260462 CAPNS2 . GRCh38 chr16 55567300 55567300 + Missense_Mutation SNP G G A 7316-1789 BS_XHT3F34T G G c.544G>A p.Gly182Ser p.G182S ENST00000457326 1/1 58 36 22 50 50 0 CAPNS2,missense_variant,p.Gly182Ser,ENST00000457326,NM_032330.1;LPCAT2,intron_variant,,ENST00000262134,NM_017839.4;LPCAT2,intron_variant,,ENST00000565056,;LPCAT2,intron_variant,,ENST00000563095,;LPCAT2,intron_variant,,ENST00000566915,;,regulatory_region_variant,,ENSR00000086208,; A ENSG00000256812 ENST00000457326 Transcript missense_variant 629/1016 544/747 182/248 G/S Ggc/Agc COSM1378392 1 1 CAPNS2 HGNC HGNC:16371 protein_coding YES CCDS54010.1 ENSP00000400882 Q96L46 UPI0000071268 NM_032330.1 deleterious(0) probably_damaging(0.994) 1/1 PROSITE_profiles:PS50222,cd16188,hmmpanther:PTHR44408:SF1,hmmpanther:PTHR44408,Gene3D:1.10.238.10,Superfamily_domains:SSF47473 1 MODERATE SNV 1 PASS AGG . . 55567300 OR3A2 . GRCh38 chr17 3278236 3278236 + Missense_Mutation SNP C C G novel 7316-1789 BS_XHT3F34T C C c.700G>C p.Val234Leu p.V234L ENST00000408891 1/1 46 25 20 48 48 0 OR3A2,missense_variant,p.Val228Leu,ENST00000641164,;OR3A2,missense_variant,p.Val228Leu,ENST00000642052,;OR3A2,missense_variant,p.Val234Leu,ENST00000408891,NM_002551.3;OR3A2,downstream_gene_variant,,ENST00000573491,;OR3A2,downstream_gene_variant,,ENST00000576166,; G ENSG00000221882 ENST00000408891 Transcript missense_variant 739/1076 700/966 234/321 V/L Gtt/Ctt 1 -1 OR3A2 HGNC HGNC:8283 protein_coding YES CCDS42233.1 ENSP00000386180 P47893 A0A126GVQ3 UPI0000050B3C NM_002551.3 deleterious(0) possibly_damaging(0.897) 1/1 PROSITE_profiles:PS50262,cd15233,hmmpanther:PTHR26451:SF349,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS ACT . . 3278236 GALK1 . GRCh38 chr17 75758114 75758114 + Missense_Mutation SNP C C T novel 7316-1789 BS_XHT3F34T C C c.1121G>A p.Gly374Glu p.G374E ENST00000588479 8/8 79 69 7 52 52 0 GALK1,missense_variant,p.Gly374Glu,ENST00000588479,NM_000154.1;GALK1,missense_variant,p.Gly374Glu,ENST00000225614,;GALK1,missense_variant,p.Gly166Glu,ENST00000592997,;ITGB4,downstream_gene_variant,,ENST00000200181,NM_000213.4;ITGB4,downstream_gene_variant,,ENST00000449880,NM_001005619.1;ITGB4,downstream_gene_variant,,ENST00000450894,NM_001005731.2;ITGB4,downstream_gene_variant,,ENST00000578318,;ITGB4,downstream_gene_variant,,ENST00000579662,NM_001321123.1;ITGB4,downstream_gene_variant,,ENST00000582629,;ITGB4,downstream_gene_variant,,ENST00000584939,;ITGB4,downstream_gene_variant,,ENST00000583327,;GALK1,non_coding_transcript_exon_variant,,ENST00000586733,;GALK1,non_coding_transcript_exon_variant,,ENST00000589643,;ITGB4,downstream_gene_variant,,ENST00000579211,;GALK1,downstream_gene_variant,,ENST00000586244,;GALK1,downstream_gene_variant,,ENST00000587707,;GALK1,downstream_gene_variant,,ENST00000592494,; T ENSG00000108479 ENST00000588479 Transcript missense_variant 1696/1866 1121/1179 374/392 G/E gGg/gAg 1 -1 GALK1 HGNC HGNC:4118 protein_coding YES CCDS11728.1 ENSP00000465930 P51570 V9HWE7 UPI000012B056 NM_000154.1 deleterious(0.01) possibly_damaging(0.823) 8/8 Gene3D:3.30.70.890,PIRSF_domain:PIRSF000530,hmmpanther:PTHR10457,hmmpanther:PTHR10457:SF6,Superfamily_domains:SSF55060,TIGRFAM_domain:TIGR00131 MODERATE 1 SNV 1 1 PASS CCC . . 75758114 TNRC6C . GRCh38 chr17 78083107 78083107 + Missense_Mutation SNP A A G novel 7316-1789 BS_XHT3F34T A A c.3409A>G p.Thr1137Ala p.T1137A ENST00000335749 11/21 94 69 22 50 50 0 TNRC6C,missense_variant,p.Thr1137Ala,ENST00000335749,NM_001142640.1;TNRC6C,missense_variant,p.Thr1140Ala,ENST00000301624,NM_018996.3;TNRC6C,missense_variant,p.Thr1137Ala,ENST00000588847,;TNRC6C,missense_variant,p.Thr1140Ala,ENST00000588061,;TNRC6C,missense_variant,p.Thr1355Ala,ENST00000636222,; G ENSG00000078687 ENST00000335749 Transcript missense_variant 3978/9740 3409/5181 1137/1726 T/A Acc/Gcc 1 1 TNRC6C HGNC HGNC:29318 protein_coding YES CCDS45799.1 ENSP00000336783 Q9HCJ0 UPI0000EE5F80 NM_001142640.1 deleterious(0.03) probably_damaging(0.978) 11/21 Pfam_domain:PF12938,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9 MODERATE 1 SNV 5 PASS AAC . . 78083107 TUBB8P12 . GRCh38 chr18 49147 49147 + Missense_Mutation SNP G G A rs4413042 7316-1789 BS_XHT3F34T G G c.148C>T p.His50Tyr p.H50Y ENST00000308911 2/4 37 25 12 42 39 3 TUBB8P12,missense_variant,p.His50Tyr,ENST00000308911,;AP001005.3,downstream_gene_variant,,ENST00000572530,;AP001005.3,downstream_gene_variant,,ENST00000575325,;TUBB8P12,upstream_gene_variant,,ENST00000594555,;AP001005.1,downstream_gene_variant,,ENST00000575066,; A ENSG00000173213 ENST00000308911 Transcript missense_variant 148/1335 148/1335 50/444 H/Y Cac/Tac rs4413042,COSM438199 1 -1 TUBB8P12 HGNC HGNC:24983 protein_coding YES ENSP00000496713 A6NNZ2 UPI000049DE76 tolerated_low_confidence(1) benign(0) 2/4 cd02187,hmmpanther:PTHR11588:SF256,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF00091,Superfamily_domains:SSF52490,SMART_domains:SM00864,Prints_domain:PR01163 0.3389 0.2625 0.3256 0.4742 0.2793 0.3732 0,1 MODERATE SNV 0,1 PASS TGC . . 0.1055 0.05676 0.09035 0.08311 0.1937 0.1363 0.09666 0.0879 0.16 49147 EEF2 . GRCh38 chr19 3979423 3979423 + Missense_Mutation SNP T T C novel 7316-1789 BS_XHT3F34T T T c.1619A>G p.Glu540Gly p.E540G ENST00000309311 11/15 72 62 5 44 43 0 EEF2,missense_variant,p.Glu540Gly,ENST00000309311,NM_001961.3;EEF2,upstream_gene_variant,,ENST00000600794,;SNORD37,downstream_gene_variant,,ENST00000384048,;EEF2,downstream_gene_variant,,ENST00000600720,;EEF2,non_coding_transcript_exon_variant,,ENST00000596417,;EEF2,downstream_gene_variant,,ENST00000594885,;EEF2,downstream_gene_variant,,ENST00000598182,;EEF2,downstream_gene_variant,,ENST00000598436,; C ENSG00000167658 ENST00000309311 Transcript missense_variant 1708/3164 1619/2577 540/858 E/G gAg/gGg 1 -1 EEF2 HGNC HGNC:3214 protein_coding YES CCDS12117.1 ENSP00000307940 P13639 UPI00001649F3 NM_001961.3 deleterious(0) benign(0.196) 11/15 Gene3D:3.30.70.870,PDB-ENSP_mappings:4v6x.Az,Pfam_domain:PF14492,hmmpanther:PTHR42908,hmmpanther:PTHR42908:SF10,Superfamily_domains:SSF54980,cd16261 MODERATE 1 SNV 5 1 PASS CTC . . 3979423 SAMD1 . GRCh38 chr19 14088724 14088724 + Nonsense_Mutation SNP C C A novel 7316-1789 BS_XHT3F34T C C c.1087G>T p.Glu363Ter p.E363* ENST00000533683 4/5 57 39 18 57 56 0 SAMD1,stop_gained,p.Glu363Ter,ENST00000533683,NM_138352.1;SAMD1,stop_gained,p.Glu63Ter,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,; A ENSG00000141858 ENST00000533683 Transcript stop_gained 1375/2164 1087/1299 363/432 E/* Gaa/Taa 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 4/5 Gene3D:1.10.150.50,Pfam_domain:PF00536,PROSITE_profiles:PS50105,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF126,SMART_domains:SM00454,Superfamily_domains:SSF47769,cd09583 HIGH 1 SNV 1 PASS TCG . . 14088724 CASP14 . GRCh38 chr19 15055248 15055248 + Missense_Mutation SNP C C A 7316-1789 BS_XHT3F34T C C c.494C>A p.Ala165Asp p.A165D ENST00000427043 5/7 61 51 10 39 36 0 CASP14,missense_variant,p.Ala165Asp,ENST00000427043,NM_012114.2;CASP14,non_coding_transcript_exon_variant,,ENST00000598738,; A ENSG00000105141 ENST00000427043 Transcript missense_variant 802/3241 494/729 165/242 A/D gCc/gAc COSM6524698 1 1 CASP14 HGNC HGNC:1502 protein_coding YES CCDS12323.1 ENSP00000393417 P31944 B2CIS9 UPI0000044176 NM_012114.2 deleterious(0.04) benign(0.175) 5/7 Gene3D:3.30.70.1470,Pfam_domain:PF00656,PROSITE_profiles:PS50207,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF131,SMART_domains:SM00115,Superfamily_domains:SSF52129,cd00032 1 MODERATE 1 SNV 1 1 1 PASS GCC . . 15055248 FXYD3 . GRCh38 chr19 35122758 35122758 + Splice_Region SNP C C T novel 7316-1789 BS_XHT3F34T C C c.269-7C>T ENST00000604255 44 26 17 43 42 0 FXYD3,missense_variant,p.Leu60Phe,ENST00000603524,;FXYD3,missense_variant,p.Leu60Phe,ENST00000604804,;FXYD3,splice_region_variant,,ENST00000344013,;FXYD3,splice_region_variant,,ENST00000346446,NM_001136012.1;FXYD3,splice_region_variant,,ENST00000435734,NM_021910.2;FXYD3,splice_region_variant,,ENST00000603181,;FXYD3,splice_region_variant,,ENST00000604255,NM_001136007.1;FXYD3,splice_region_variant,,ENST00000604404,NM_005971.3,NM_001136011.1;FXYD3,splice_region_variant,,ENST00000604621,;FXYD3,splice_region_variant,,ENST00000605550,;FXYD3,splice_region_variant,,ENST00000605677,NM_001136008.1;LGI4,downstream_gene_variant,,ENST00000310123,NM_139284.2;LGI4,downstream_gene_variant,,ENST00000392225,;LGI4,downstream_gene_variant,,ENST00000587780,;FXYD3,downstream_gene_variant,,ENST00000603449,NM_001136010.1;FXYD3,downstream_gene_variant,,ENST00000605552,NM_001136009.1;MIR6887,mature_miRNA_variant,,ENST00000622822,;LGI4,downstream_gene_variant,,ENST00000493050,;LGI4,downstream_gene_variant,,ENST00000591840,;LGI4,downstream_gene_variant,,ENST00000593248,;FXYD3,downstream_gene_variant,,ENST00000604504,; T ENSG00000089356 ENST00000604255 Transcript splice_region_variant,intron_variant 1 1 FXYD3 HGNC HGNC:4027 protein_coding YES CCDS46048.1 ENSP00000473929 Q14802 UPI0001823FD9 NM_001136007.1 6/9 LOW SNV 5 PASS CCT . . 35122758 LINC01535 . GRCh38 chr19 37262660 37262660 + Splice_Region SNP A A G rs56131084 7316-1789 BS_XHT3F34T A A n.1169+5A>G ENST00000592712 50 35 15 43 41 1 LINC01535,splice_region_variant,,ENST00000438770,;LINC01535,splice_region_variant,,ENST00000591116,;LINC01535,splice_region_variant,,ENST00000592712,;LINC01535,intron_variant,,ENST00000587477,;LINC01535,intron_variant,,ENST00000588904,;LINC01535,intron_variant,,ENST00000592100,;AC016590.1,downstream_gene_variant,,ENST00000586324,;AC016590.1,downstream_gene_variant,,ENST00000586442,;AC016590.1,downstream_gene_variant,,ENST00000588763,;AC016590.1,downstream_gene_variant,,ENST00000590889,;AC016590.1,downstream_gene_variant,,ENST00000612804,; G ENSG00000226686 ENST00000592712 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs56131084 1 1 LINC01535 HGNC HGNC:51282 lincRNA YES 7/7 LOW 1 SNV 1 PASS AAT . . 37262660 NOP56 . GRCh38 chr20 2658016 2658016 + Missense_Mutation SNP T T G novel 7316-1789 BS_XHT3F34T T T c.1507T>G p.Phe503Val p.F503V ENST00000329276 12/12 61 44 16 54 54 0 NOP56,missense_variant,p.Phe503Val,ENST00000329276,NM_006392.3;NOP56,3_prime_UTR_variant,,ENST00000415272,;IDH3B,downstream_gene_variant,,ENST00000380843,NM_006899.4;IDH3B,downstream_gene_variant,,ENST00000380851,NM_174855.3;NOP56,downstream_gene_variant,,ENST00000445139,;IDH3B,downstream_gene_variant,,ENST00000474315,NM_001330763.1;IDH3B,downstream_gene_variant,,ENST00000613370,NM_001258384.2;SNORD86,downstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORD56,downstream_gene_variant,,ENST00000413522,;SNORD57,downstream_gene_variant,,ENST00000448188,;SNORA51,downstream_gene_variant,,ENST00000606420,;NOP56,non_coding_transcript_exon_variant,,ENST00000492135,;NOP56,non_coding_transcript_exon_variant,,ENST00000466447,;NOP56,non_coding_transcript_exon_variant,,ENST00000462630,;NOP56,non_coding_transcript_exon_variant,,ENST00000467857,;NOP56,downstream_gene_variant,,ENST00000460258,;NOP56,downstream_gene_variant,,ENST00000469588,;NOP56,downstream_gene_variant,,ENST00000470143,;NOP56,downstream_gene_variant,,ENST00000471023,;NOP56,downstream_gene_variant,,ENST00000480447,;NOP56,downstream_gene_variant,,ENST00000480992,;NOP56,downstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000490753,;NOP56,downstream_gene_variant,,ENST00000494697,;NOP56,downstream_gene_variant,,ENST00000496775,;NOP56,3_prime_UTR_variant,,ENST00000467196,;NOP56,non_coding_transcript_exon_variant,,ENST00000612233,;NOP56,non_coding_transcript_exon_variant,,ENST00000616692,;IDH3B,downstream_gene_variant,,ENST00000462967,;IDH3B,downstream_gene_variant,,ENST00000466494,;IDH3B,downstream_gene_variant,,ENST00000466999,;IDH3B,downstream_gene_variant,,ENST00000477689,;IDH3B,downstream_gene_variant,,ENST00000479376,;IDH3B,downstream_gene_variant,,ENST00000488299,;IDH3B,downstream_gene_variant,,ENST00000491065,;IDH3B,downstream_gene_variant,,ENST00000492240,; G ENSG00000101361 ENST00000329276 Transcript missense_variant 2023/2400 1507/1785 503/594 F/V Ttc/Gtc 1 1 NOP56 HGNC HGNC:15911 protein_coding YES CCDS13030.1 ENSP00000370589 O00567 UPI000016A81D NM_006392.3 tolerated_low_confidence(0.73) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894 MODERATE 1 SNV 1 1 PASS TTT . . 2658016 JAG1 . GRCh38 chr20 10650364 10650364 + Splice_Region SNP G G C novel 7316-1789 BS_XHT3F34T G G c.1121-4C>G ENST00000254958 88 83 5 41 41 0 JAG1,splice_region_variant,,ENST00000254958,NM_000214.2;JAG1,upstream_gene_variant,,ENST00000613518,;MIR6870,upstream_gene_variant,,ENST00000615931,;JAG1,splice_region_variant,,ENST00000423891,;JAG1,non_coding_transcript_exon_variant,,ENST00000617965,;JAG1,upstream_gene_variant,,ENST00000488480,;JAG1,upstream_gene_variant,,ENST00000612857,;JAG1,upstream_gene_variant,,ENST00000620743,;JAG1,upstream_gene_variant,,ENST00000622545,; C ENSG00000101384 ENST00000254958 Transcript splice_region_variant,intron_variant 1 -1 JAG1 HGNC HGNC:6188 protein_coding YES CCDS13112.1 ENSP00000254958 P78504 UPI00000498B5 NM_000214.2 8/25 LOW 1 SNV 1 1 PASS GGT . . 10650364 AL136460.1 . GRCh38 chr20 12316119 12316119 + Splice_Region SNP C C A novel 7316-1789 BS_XHT3F34T C C n.359+8G>T ENST00000442389 87 55 32 57 55 0 AL136460.1,splice_region_variant,,ENST00000442389,; A ENSG00000230437 ENST00000442389 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AL136460.1 Clone_based_ensembl_gene lincRNA YES 1/1 LOW 1 SNV 3 PASS ACC . . 12316119 RBBP8NL . GRCh38 chr20 62414060 62414060 + Missense_Mutation SNP C C A novel 7316-1789 BS_XHT3F34T C C c.1291G>T p.Ala431Ser p.A431S ENST00000252998 10/14 100 63 34 62 62 0 RBBP8NL,missense_variant,p.Ala431Ser,ENST00000252998,NM_080833.2; A ENSG00000130701 ENST00000252998 Transcript missense_variant 1448/2793 1291/1995 431/664 A/S Gca/Tca 1 -1 RBBP8NL HGNC HGNC:16144 protein_coding YES CCDS13498.1 ENSP00000252998 Q8NC74 UPI000013CDA2 NM_080833.2 tolerated(0.3) benign(0.003) 10/14 mobidb-lite,hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF3 MODERATE 1 SNV 2 PASS GCA . . 62414060 PRPF6 . GRCh38 chr20 64001215 64001215 + Missense_Mutation SNP G G A novel 7316-1789 BS_XHT3F34T G G c.1162G>A p.Ala388Thr p.A388T ENST00000266079 9/21 76 43 32 37 36 0 PRPF6,missense_variant,p.Ala388Thr,ENST00000266079,NM_012469.3; A ENSG00000101161 ENST00000266079 Transcript missense_variant 1273/3044 1162/2826 388/941 A/T Gca/Aca 1 1 PRPF6 HGNC HGNC:15860 protein_coding YES CCDS13550.1 ENSP00000266079 O94906 UPI0000132356 NM_012469.3 tolerated(0.15) possibly_damaging(0.461) 9/21 Gene3D:1.25.40.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF1,SMART_domains:SM00386,Superfamily_domains:SSF48452 MODERATE 1 SNV 1 1 PASS TGC . . 64001215 SCUBE1 . GRCh38 chr22 43343204 43343204 + Missense_Mutation SNP C C G novel 7316-1789 BS_XHT3F34T C C c.58G>C p.Gly20Arg p.G20R ENST00000360835 1/22 48 26 21 69 69 0 SCUBE1,missense_variant,p.Gly20Arg,ENST00000360835,NM_173050.3;SCUBE1,missense_variant,p.Gly20Arg,ENST00000290460,;SCUBE1,missense_variant,p.Gly20Arg,ENST00000615096,;,regulatory_region_variant,,ENSR00000146934,; G ENSG00000159307 ENST00000360835 Transcript missense_variant 185/9808 58/2967 20/988 G/R Ggg/Cgg 1 -1 SCUBE1 HGNC HGNC:13441 protein_coding YES CCDS14048.1 ENSP00000354080 Q8IWY4 UPI000020790F NM_173050.3 tolerated(0.48) benign(0) 1/22 Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CCG . . 43343204 CERK . GRCh38 chr22 46711140 46711140 + Missense_Mutation SNP T T C novel 7316-1789 BS_XHT3F34T T T c.515A>G p.His172Arg p.H172R ENST00000216264 5/13 39 17 22 40 39 1 CERK,missense_variant,p.His172Arg,ENST00000216264,NM_022766.5;CERK,intron_variant,,ENST00000443629,; C ENSG00000100422 ENST00000216264 Transcript missense_variant 628/4450 515/1614 172/537 H/R cAt/cGt 1 -1 CERK HGNC HGNC:19256 protein_coding YES CCDS14077.1 ENSP00000216264 Q8TCT0 A0A024R4U8 UPI000004BBBD NM_022766.5 tolerated(1) benign(0.001) 5/13 Gene3D:3.40.50.10330,Pfam_domain:PF00781,PROSITE_profiles:PS50146,hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF25,SMART_domains:SM00046,Superfamily_domains:SSF111331 MODERATE 1 SNV 1 PASS ATG . . 46711140 H2BFWT . GRCh38 chrX 104013591 104013591 + Missense_Mutation SNP C C T novel 7316-1789 BS_XHT3F34T C C c.70G>A p.Ala24Thr p.A24T ENST00000217926 1/3 47 21 25 31 31 0 H2BFWT,missense_variant,p.Ala24Thr,ENST00000217926,NM_001002916.4;H2BFWT,missense_variant,p.Ala24Thr,ENST00000611083,; T ENSG00000123569 ENST00000217926 Transcript missense_variant 97/894 70/528 24/175 A/T Gcc/Acc 1 -1 H2BFWT HGNC HGNC:27252 protein_coding YES CCDS35362.1 ENSP00000354723 Q7Z2G1 UPI000019B16C NM_001002916.4 deleterious(0.02) probably_damaging(0.995) 1/3 hmmpanther:PTHR23428,hmmpanther:PTHR23428:SF27,Pfam_domain:PF00125 MODERATE 1 SNV 1 PASS GCC . . 104013591 SLC9B1P1 . GRCh38 chrY 11344963 11344963 + Splice_Region SNP C C T rs763588005 7316-1789 BS_XHT3F34T C C n.1121+5G>A ENST00000331172 32 26 6 39 39 0 SLC9B1P1,splice_region_variant,,ENST00000331172,; T ENSG00000183704 ENST00000331172 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs763588005,COSM1491343 1 -1 SLC9B1P1 HGNC HGNC:37492 unprocessed_pseudogene YES 8/8 0,1 LOW 1 SNV 0,1 PASS TCT . . 11344963 MYSM1 . GRCh38 chr1 58673592 58673592 + Frame_Shift_Del DEL A A - novel 7316-114 BS_2EJWS3SD A A c.1553del p.Leu518Ter p.L518* ENST00000472487 11/20 68 34 32 45 45 0 MYSM1,frameshift_variant,p.Leu518Ter,ENST00000472487,NM_001085487.2;MYSM1,non_coding_transcript_exon_variant,,ENST00000493821,;MYSM1,non_coding_transcript_exon_variant,,ENST00000401044,;MYSM1,downstream_gene_variant,,ENST00000481973,; - ENSG00000162601 ENST00000472487 Transcript frameshift_variant 1593/7785 1553/2487 518/828 L/X tTa/ta 1 -1 MYSM1 HGNC HGNC:29401 protein_coding YES CCDS41343.1 ENSP00000418734 Q5VVJ2 UPI0000204444 NM_001085487.2 11/20 hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF67 HIGH 1 deletion 1 PASS CTAA . . 58673591 COL11A1 . GRCh38 chr1 102914368 102914368 + Missense_Mutation SNP C C T novel 7316-114 BS_2EJWS3SD C C c.3962G>A p.Gly1321Glu p.G1321E ENST00000370096 52/67 91 52 34 49 47 0 COL11A1,missense_variant,p.Gly1333Glu,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly1321Glu,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly1282Glu,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly1205Glu,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,; T ENSG00000060718 ENST00000370096 Transcript missense_variant 4250/7261 3962/5421 1321/1806 G/E gGg/gAg 1 -1 COL11A1 HGNC HGNC:2186 protein_coding YES CCDS778.1 ENSP00000359114 P12107 UPI00002053EF NM_001854.3 deleterious(0) possibly_damaging(0.449) 52/67 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24023:SF42,hmmpanther:PTHR24023,Gene3D:2.160.20.50 MODERATE 1 SNV 1 1 PASS CCC . . 102914368 PDE4DIP . GRCh38 chr1 148978039 148978039 + Nonsense_Mutation SNP G G T novel 7316-114 BS_2EJWS3SD G G c.2422G>T p.Glu808Ter p.E808* ENST00000369356 18/44 71 60 10 53 53 0 PDE4DIP,stop_gained,p.Glu971Ter,ENST00000529945,;PDE4DIP,stop_gained,p.Glu945Ter,ENST00000585156,;PDE4DIP,stop_gained,p.Glu808Ter,ENST00000369356,NM_001198834.3;PDE4DIP,stop_gained,p.Glu945Ter,ENST00000524974,;PDE4DIP,stop_gained,p.Glu808Ter,ENST00000369354,NM_014644.5;PDE4DIP,stop_gained,p.Glu874Ter,ENST00000618462,NM_001198832.2;PDE4DIP,stop_gained,p.Glu971Ter,ENST00000313431,NM_001002811.2;PDE4DIP,stop_gained,p.Glu808Ter,ENST00000369351,;PDE4DIP,stop_gained,p.Glu808Ter,ENST00000369349,NM_001002812.2;PDE4DIP,stop_gained,p.Glu595Ter,ENST00000479408,;PDE4DIP,upstream_gene_variant,,ENST00000491426,;PDE4DIP,intron_variant,,ENST00000467859,;PDE4DIP,upstream_gene_variant,,ENST00000530062,; T ENSG00000178104 ENST00000369356 Transcript stop_gained 2713/8307 2422/7089 808/2362 E/* Gaa/Taa 1 1 PDE4DIP HGNC HGNC:15580 protein_coding YES CCDS72892.1 ENSP00000358363 Q5VU43 A0A0A0MRM1 UPI000292EFC6 NM_001198834.3 18/44 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF501,hmmpanther:PTHR13140 HIGH 1 SNV 1 1 PASS AGA . . 148978039 CTSK . GRCh38 chr1 150804025 150804025 + Missense_Mutation SNP C C T novel 7316-114 BS_2EJWS3SD C C c.614G>A p.Gly205Glu p.G205E ENST00000271651 5/8 84 54 29 53 52 1 CTSK,missense_variant,p.Gly205Glu,ENST00000271651,NM_000396.3;CTSK,downstream_gene_variant,,ENST00000443913,;CTSK,non_coding_transcript_exon_variant,,ENST00000480670,;UBE2D3P3,downstream_gene_variant,,ENST00000426992,; T ENSG00000143387 ENST00000271651 Transcript missense_variant 725/1692 614/990 205/329 G/E gGa/gAa 1 -1 CTSK HGNC HGNC:2536 protein_coding YES CCDS969.1 ENSP00000271651 P43235 UPI0000000DFB NM_000396.3 deleterious(0.02) probably_damaging(0.978) 5/8 PDB-ENSP_mappings:1atk.A,PDB-ENSP_mappings:1au0.A,PDB-ENSP_mappings:1au2.A,PDB-ENSP_mappings:1au3.A,PDB-ENSP_mappings:1au4.A,PDB-ENSP_mappings:1ayu.A,PDB-ENSP_mappings:1ayv.A,PDB-ENSP_mappings:1ayw.A,PDB-ENSP_mappings:1bgo.A,PDB-ENSP_mappings:1by8.A,PDB-ENSP_mappings:1mem.A,PDB-ENSP_mappings:1nl6.A,PDB-ENSP_mappings:1nl6.B,PDB-ENSP_mappings:1nlj.A,PDB-ENSP_mappings:1nlj.B,PDB-ENSP_mappings:1q6k.A,PDB-ENSP_mappings:1snk.A,PDB-ENSP_mappings:1tu6.A,PDB-ENSP_mappings:1tu6.B,PDB-ENSP_mappings:1u9v.A,PDB-ENSP_mappings:1u9w.A,PDB-ENSP_mappings:1u9x.A,PDB-ENSP_mappings:1vsn.A,PDB-ENSP_mappings:1yk7.A,PDB-ENSP_mappings:1yk8.A,PDB-ENSP_mappings:1yt7.A,PDB-ENSP_mappings:2ato.A,PDB-ENSP_mappings:2aux.A,PDB-ENSP_mappings:2auz.A,PDB-ENSP_mappings:2bdl.A,PDB-ENSP_mappings:2r6n.A,PDB-ENSP_mappings:3c9e.A,PDB-ENSP_mappings:3h7d.A,PDB-ENSP_mappings:3h7d.E,PDB-ENSP_mappings:3kw9.A,PDB-ENSP_mappings:3kwb.X,PDB-ENSP_mappings:3kwb.Y,PDB-ENSP_mappings:3kwz.A,PDB-ENSP_mappings:3kx1.A,PDB-ENSP_mappings:3o0u.A,PDB-ENSP_mappings:3o1g.A,PDB-ENSP_mappings:3ovz.A,PDB-ENSP_mappings:4dmx.A,PDB-ENSP_mappings:4dmy.A,PDB-ENSP_mappings:4dmy.B,PDB-ENSP_mappings:4n79.A,PDB-ENSP_mappings:4n8w.A,PDB-ENSP_mappings:4x6h.A,PDB-ENSP_mappings:4x6i.A,PDB-ENSP_mappings:4x6j.A,PDB-ENSP_mappings:4yv8.A,PDB-ENSP_mappings:4yva.A,PDB-ENSP_mappings:5j94.A,PDB-ENSP_mappings:5ja7.A,PDB-ENSP_mappings:5ja7.B,PDB-ENSP_mappings:5jh3.A,PDB-ENSP_mappings:5tdi.A,PDB-ENSP_mappings:5tun.A,PDB-ENSP_mappings:7pck.A,PDB-ENSP_mappings:7pck.B,PDB-ENSP_mappings:7pck.C,PDB-ENSP_mappings:7pck.D,cd02248,hmmpanther:PTHR12411:SF55,hmmpanther:PTHR12411,Gene3D:3.90.70.10,Pfam_domain:PF00112,SMART_domains:SM00645,Superfamily_domains:SSF54001 MODERATE 1 SNV 1 1 PASS TCC . . 150804025 FLG2 . GRCh38 chr1 152353047 152353047 + Missense_Mutation SNP G G C rs1255250864 7316-114 BS_2EJWS3SD G G c.4739C>G p.Thr1580Ser p.T1580S ENST00000388718 3/3 90 77 10 40 39 0 FLG2,missense_variant,p.Thr1580Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 4812/9124 4739/7176 1580/2391 T/S aCt/aGt rs1255250864,COSM1295098 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS AGT . . 152353047 FMO2 . GRCh38 chr1 171205388 171205388 + Missense_Mutation SNP T T C novel 7316-114 BS_2EJWS3SD T T c.937T>C p.Phe313Leu p.F313L ENST00000209929 7/9 67 58 7 50 50 0 FMO2,missense_variant,p.Phe313Leu,ENST00000209929,NM_001301347.1,NM_001460.4;AL021026.1,intron_variant,,ENST00000422841,;AL021026.1,intron_variant,,ENST00000445290,;AL021026.1,intron_variant,,ENST00000445909,;FMO2,downstream_gene_variant,,ENST00000489354,;FMO2,3_prime_UTR_variant,,ENST00000529935,;FMO2,upstream_gene_variant,,ENST00000488431,; C ENSG00000094963 ENST00000209929 Transcript missense_variant 1095/3851 937/1608 313/535 F/L Ttt/Ctt 1 1 FMO2 HGNC HGNC:3770 protein_coding YES CCDS1293.2 ENSP00000209929 Q99518 UPI0000ED9123 NM_001301347.1,NM_001460.4 deleterious(0) probably_damaging(0.998) 7/9 Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR00370,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF84,Superfamily_domains:SSF51905 MODERATE 1 SNV 1 PASS CTT . . 171205388 TRAPPC12 . GRCh38 chr2 3465628 3465628 + Missense_Mutation SNP C C T rs114907951 7316-114 BS_2EJWS3SD C C c.1709C>T p.Ser570Leu p.S570L ENST00000324266 9/12 49 24 24 43 43 0 TRAPPC12,missense_variant,p.Ser570Leu,ENST00000324266,NM_016030.5;TRAPPC12,missense_variant,p.Ser570Leu,ENST00000382110,NM_001321102.1;TRAPPC12,missense_variant,p.Ser68Leu,ENST00000415624,;TRAPPC12,upstream_gene_variant,,ENST00000416918,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000469147,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000473348,;TRAPPC12,downstream_gene_variant,,ENST00000462983,;TRAPPC12,missense_variant,p.Ser182Leu,ENST00000417243,;TRAPPC12,3_prime_UTR_variant,,ENST00000437733,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000497597,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000461577,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000433382,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000489032,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000479897,;,regulatory_region_variant,,ENSR00000112093,; T ENSG00000171853 ENST00000324266 Transcript missense_variant 1904/2508 1709/2208 570/735 S/L tCg/tTg rs114907951 1 1 TRAPPC12 HGNC HGNC:24284 protein_coding YES CCDS1652.1 ENSP00000324318 Q8WVT3 UPI000014132D NM_016030.5 deleterious(0.04) benign(0.427) 9/12 Gene3D:1.25.40.10,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR21581,hmmpanther:PTHR21581:SF6,SMART_domains:SM00028,Superfamily_domains:SSF48452 0.0004 0.002 0.0004539 0.002209 MODERATE 1 SNV 1 1 PASS TCG . . 0.001275 0.0002614 0.00137 4.485e-05 0.002256 0.001823 3.249e-05 3465628 SP3 . GRCh38 chr2 173956171 173956171 + Missense_Mutation SNP G G A novel 7316-114 BS_2EJWS3SD G G c.341C>T p.Ala114Val p.A114V ENST00000310015 4/7 78 41 37 39 39 0 SP3,missense_variant,p.Ala114Val,ENST00000310015,NM_003111.4,NM_001172712.1;SP3,missense_variant,p.Ala46Val,ENST00000418194,NM_001017371.4;SP3,missense_variant,p.Ala71Val,ENST00000416195,;SP3,missense_variant,p.Ala46Val,ENST00000640958,;SP3,non_coding_transcript_exon_variant,,ENST00000483084,;SP3,non_coding_transcript_exon_variant,,ENST00000462904,;SP3,non_coding_transcript_exon_variant,,ENST00000490182,; A ENSG00000172845 ENST00000310015 Transcript missense_variant 872/6359 341/2346 114/781 A/V gCc/gTc 1 -1 SP3 HGNC HGNC:11208 protein_coding YES CCDS2254.1 ENSP00000310301 Q02447 UPI000019B3E0 NM_003111.4,NM_001172712.1 tolerated(0.09) benign(0.006) 4/7 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF3 MODERATE 1 SNV 1 PASS GGC . . 173956171 PHLDB2 . GRCh38 chr3 111939565 111939565 + Missense_Mutation SNP G G C rs772854599 7316-114 BS_2EJWS3SD G G c.2221G>C p.Glu741Gln p.E741Q ENST00000431670 7/18 65 29 34 47 45 1 PHLDB2,missense_variant,p.Glu741Gln,ENST00000431670,NM_001134438.1;PHLDB2,missense_variant,p.Glu698Gln,ENST00000412622,NM_145753.2;PHLDB2,missense_variant,p.Glu725Gln,ENST00000393923,NM_001134437.1;PHLDB2,missense_variant,p.Glu741Gln,ENST00000393925,NM_001134439.1;PHLDB2,missense_variant,p.Glu698Gln,ENST00000481953,;PHLDB2,missense_variant,p.Glu327Gln,ENST00000495180,;PHLDB2,missense_variant,p.Glu698Gln,ENST00000498699,;PHLDB2,missense_variant,p.Glu528Gln,ENST00000478733,;PHLDB2,non_coding_transcript_exon_variant,,ENST00000491694,; C ENSG00000144824 ENST00000431670 Transcript missense_variant 2632/6127 2221/3762 741/1253 E/Q Gag/Cag rs772854599 1 1 PHLDB2 HGNC HGNC:29573 protein_coding YES CCDS46886.1 ENSP00000405405 Q86SQ0 UPI0000457152 NM_001134438.1 deleterious(0) probably_damaging(0.96) 7/18 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF21 MODERATE 1 SNV 1 PASS GGA . . 8.137e-06 6.501e-05 111939565 SPZ1 . GRCh38 chr5 80321471 80321474 + Frame_Shift_Del DEL TTAG TTAG - novel 7316-114 BS_2EJWS3SD TTAG TTAG c.1256_1259del p.Leu419ArgfsTer4 p.L419Rfs*4 ENST00000296739 1/1 76 41 33 59 59 0 SPZ1,frameshift_variant,p.Leu419ArgfsTer4,ENST00000296739,NM_032567.3;SPZ1,downstream_gene_variant,,ENST00000511881,; - ENSG00000164299 ENST00000296739 Transcript frameshift_variant 1497-1500/1868 1256-1259/1293 419-420/430 LR/X cTTAGg/cg 1 1 SPZ1 HGNC HGNC:30721 protein_coding YES CCDS43336.1 ENSP00000369611 Q9BXG8 A0A140VKA5 UPI000020CBA6 NM_032567.3 1/1 hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37 HIGH 1 deletion PASS TCTTAGG . . 80321470 PCDHA4 . GRCh38 chr5 140809421 140809421 + Missense_Mutation SNP T T C novel 7316-114 BS_2EJWS3SD T T c.2234T>C p.Val745Ala p.V745A ENST00000530339 1/4 68 44 24 58 57 0 PCDHA4,missense_variant,p.Val745Ala,ENST00000618834,NM_031500.2;PCDHA4,missense_variant,p.Val745Ala,ENST00000530339,NM_018907.3;PCDHA4,missense_variant,p.Val745Ala,ENST00000512229,;PCDHA4,missense_variant,p.Val744Ala,ENST00000378125,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.1;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;AC005609.5,intron_variant,,ENST00000624712,;,regulatory_region_variant,,ENSR00000317550,; C ENSG00000204967 ENST00000530339 Transcript missense_variant 2234/5251 2234/2844 745/947 V/A gTg/gCg 1 1 PCDHA4 HGNC HGNC:8670 protein_coding YES CCDS54916.1 ENSP00000435300 Q9UN74 UPI00001273CC NM_018907.3 tolerated_low_confidence(0.09) benign(0.02) 1/4 hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82 MODERATE 1 SNV 1 PASS GTG . . 140809421 GALNT10 . GRCh38 chr5 154376274 154376274 + Splice_Region SNP T T C rs1449582429 7316-114 BS_2EJWS3SD T T c.569-3T>C ENST00000297107 75 43 30 41 41 0 GALNT10,splice_region_variant,,ENST00000297107,NM_198321.3;GALNT10,splice_region_variant,,ENST00000425427,;GALNT10,intron_variant,,ENST00000377661,;SAP30L-AS1,intron_variant,,ENST00000519727,;GALNT10,splice_region_variant,,ENST00000519571,;GALNT10,splice_region_variant,,ENST00000521781,;GALNT10,upstream_gene_variant,,ENST00000519544,;GALNT10,splice_region_variant,,ENST00000520647,; C ENSG00000164574 ENST00000297107 Transcript splice_region_variant,intron_variant rs1449582429 1 1 GALNT10 HGNC HGNC:19873 protein_coding YES CCDS4325.1 ENSP00000297107 Q86SR1 UPI0000041292 NM_198321.3 4/11 LOW 1 SNV 1 PASS ATA . . 4.099e-06 8.998e-06 154376274 IL17F . GRCh38 chr6 52237062 52237062 + Missense_Mutation SNP C C T rs550486674 7316-114 BS_2EJWS3SD C C c.361G>A p.Val121Ile p.V121I ENST00000336123 3/3 81 49 32 40 40 0 IL17F,missense_variant,p.Val121Ile,ENST00000336123,NM_052872.3;IL17F,non_coding_transcript_exon_variant,,ENST00000478427,; T ENSG00000112116 ENST00000336123 Transcript missense_variant 469/850 361/492 121/163 V/I Gtt/Att rs550486674,COSM4586833 1 -1 IL17F HGNC HGNC:16404 protein_coding YES CCDS4938.1 ENSP00000337432 Q96PD4 UPI0000038A0C NM_052872.3 tolerated(0.06) possibly_damaging(0.537) 3/3 PDB-ENSP_mappings:1jpy.A,PDB-ENSP_mappings:1jpy.B,PDB-ENSP_mappings:1jpy.X,PDB-ENSP_mappings:1jpy.Y,Gene3D:2.10.90.10,PDB-ENSP_mappings:3jvf.A,PDB-ENSP_mappings:3jvf.B,PDB-ENSP_mappings:5n92.F,PDB-ENSP_mappings:5nan.E,PDB-ENSP_mappings:5nan.F,Pfam_domain:PF06083,hmmpanther:PTHR45214,Superfamily_domains:SSF57501 0.0002 0.001 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACG . . 4.878e-05 5.958e-05 0.0002902 4.485e-05 52237062 ADGRB3 . GRCh38 chr6 68993878 68993880 + In_Frame_Del DEL TCT TCT - novel 7316-114 BS_2EJWS3SD TCT TCT c.1848_1850del p.Leu617del p.L617del ENST00000370598 11/32 77 42 29 57 55 0 ADGRB3,inframe_deletion,p.Leu617del,ENST00000370598,NM_001704.2;ADGRB3,inframe_deletion,p.Leu617del,ENST00000546190,; - ENSG00000135298 ENST00000370598 Transcript inframe_deletion 2666-2668/6010 1845-1847/4569 615-616/1522 DL/D gaTCTt/gat 1 1 ADGRB3 HGNC HGNC:945 protein_coding YES CCDS4968.1 ENSP00000359630 O60242 UPI00001AE6A9 NM_001704.2 11/32 Pfam_domain:PF16489,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40,Prints_domain:PR01694 MODERATE 1 deletion 1 3 PASS GATCTT . . 68993877 NUDCD3 . GRCh38 chr7 44427694 44427694 + Missense_Mutation SNP C C A 7316-114 BS_2EJWS3SD C C c.519G>T p.Glu173Asp p.E173D ENST00000355451 3/6 70 33 33 39 38 0 NUDCD3,missense_variant,p.Glu173Asp,ENST00000355451,NM_015332.3;NUDCD3,non_coding_transcript_exon_variant,,ENST00000460110,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000472246,;NUDCD3,upstream_gene_variant,,ENST00000478769,;NUDCD3,upstream_gene_variant,,ENST00000493613,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000464812,; A ENSG00000015676 ENST00000355451 Transcript missense_variant 799/8256 519/1086 173/361 E/D gaG/gaT COSM1089941 1 -1 NUDCD3 HGNC HGNC:22208 protein_coding YES CCDS5490.2 ENSP00000347626 Q8IVD9 UPI000020EEEB NM_015332.3 tolerated(0.08) benign(0.031) 3/6 hmmpanther:PTHR12356,hmmpanther:PTHR12356:SF19,Gene3D:2.60.40.790,Superfamily_domains:SSF49764 1 MODERATE 1 SNV 1 1 PASS GCT . . 44427694 NUDCD3 . GRCh38 chr7 44427695 44427695 + Missense_Mutation SNP T T C novel 7316-114 BS_2EJWS3SD T T c.518A>G p.Glu173Gly p.E173G ENST00000355451 3/6 70 33 33 39 38 0 NUDCD3,missense_variant,p.Glu173Gly,ENST00000355451,NM_015332.3;NUDCD3,non_coding_transcript_exon_variant,,ENST00000460110,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000472246,;NUDCD3,upstream_gene_variant,,ENST00000478769,;NUDCD3,upstream_gene_variant,,ENST00000493613,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000464812,; C ENSG00000015676 ENST00000355451 Transcript missense_variant 798/8256 518/1086 173/361 E/G gAg/gGg 1 -1 NUDCD3 HGNC HGNC:22208 protein_coding YES CCDS5490.2 ENSP00000347626 Q8IVD9 UPI000020EEEB NM_015332.3 deleterious(0.01) possibly_damaging(0.476) 3/6 hmmpanther:PTHR12356,hmmpanther:PTHR12356:SF19,Gene3D:2.60.40.790,Superfamily_domains:SSF49764 MODERATE 1 SNV 1 PASS CTC . . 44427695 ABCA13 . GRCh38 chr7 48511199 48511199 + Missense_Mutation SNP G G T rs1345328150 7316-114 BS_2EJWS3SD G G c.13640G>T p.Gly4547Val p.G4547V ENST00000435803 51/62 75 66 9 54 54 0 ABCA13,missense_variant,p.Gly4547Val,ENST00000435803,NM_152701.4;ABCA13,missense_variant,p.Gly1855Val,ENST00000544596,;ABCA13,missense_variant,p.Gly320Val,ENST00000411975,;ABCA13,missense_variant,p.Gly68Val,ENST00000435451,;ABCA13,splice_region_variant,,ENST00000611776,;ABCA13,missense_variant,p.Gly813Val,ENST00000453246,; T ENSG00000179869 ENST00000435803 Transcript missense_variant,splice_region_variant 13664/17184 13640/15177 4547/5058 G/V gGa/gTa rs1345328150 1 1 ABCA13 HGNC HGNC:14638 protein_coding YES CCDS47584.1 ENSP00000411096 A0A0A0MT16 UPI00043788D8 NM_152701.4 deleterious(0) probably_damaging(0.998) 51/62 Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS GGG . . 4.139e-06 4.517e-05 48511199 AC009542.2 . GRCh38 chr7 135289109 135289109 + Splice_Site SNP C C T rs531074778 7316-114 BS_2EJWS3SD C C n.98+1G>A ENST00000637483 72 48 24 41 41 0 AC009542.2,splice_donor_variant,,ENST00000637483,;AC009542.2,intron_variant,,ENST00000636740,;AC009542.2,intron_variant,,ENST00000619004,; T ENSG00000276067 ENST00000637483 Transcript splice_donor_variant,non_coding_transcript_variant rs531074778 1 -1 AC009542.2 Clone_based_ensembl_gene processed_transcript YES 1/4 0.0004 0.002 HIGH 1 SNV 5 PASS ACG . . 135289109 TRBV7-4 . GRCh38 chr7 142455559 142455559 + Missense_Mutation SNP A A G rs1173337964 7316-114 BS_2EJWS3SD A A c.271A>G p.Arg91Gly p.R91G ENST00000390369 2/2 77 62 11 38 37 0 TRBV7-4,missense_variant,p.Arg91Gly,ENST00000390369,;TRBV6-5,downstream_gene_variant,,ENST00000390368,;,regulatory_region_variant,,ENSR00000219246,; G ENSG00000253409 ENST00000390369 Transcript missense_variant 271/347 271/347 91/115 R/G Aga/Gga rs1173337964 1 1 TRBV7-4 HGNC HGNC:12238 TR_V_gene YES ENSP00000374892 A0A1B0GX95 UPI00053BD5AB tolerated(1) benign(0) 2/2 MODERATE 1 SNV PASS GAG . . 142455559 NDRG1 . GRCh38 chr8 133238908 133238934 + In_Frame_Del DEL GGCGCTGTTCCCAGCAGCACCCGAGTT GGCGCTGTTCCCAGCAGCACCCGAGTT - novel 7316-114 BS_2EJWS3SD GGCGCTGTTCCCAGCAGCACCCGAGTT GGCGCTGTTCCCAGCAGCACCCGAGTT c.1129_1155del p.Asn377_Ala385del p.N377_A385del ENST00000414097 16/16 74 46 28 41 41 0 NDRG1,inframe_deletion,p.Asn377_Ala385del,ENST00000414097,NM_001135242.1;NDRG1,inframe_deletion,p.Asn377_Ala385del,ENST00000323851,NM_006096.3;NDRG1,inframe_deletion,p.Asn296_Ala304del,ENST00000537882,NM_001258433.1;NDRG1,inframe_deletion,p.Asn311_Ala319del,ENST00000522476,NM_001258432.1;NDRG1,inframe_deletion,p.Asn124_Ala132del,ENST00000518176,;NDRG1,inframe_deletion,p.Asn86_Ala94del,ENST00000518066,;NDRG1,non_coding_transcript_exon_variant,,ENST00000521414,;NDRG1,3_prime_UTR_variant,,ENST00000517599,;NDRG1,non_coding_transcript_exon_variant,,ENST00000519278,;NDRG1,non_coding_transcript_exon_variant,,ENST00000521026,;NDRG1,intron_variant,,ENST00000521438,;NDRG1,downstream_gene_variant,,ENST00000522665,;NDRG1,downstream_gene_variant,,ENST00000523642,; - ENSG00000104419 ENST00000414097 Transcript inframe_deletion 1997-2023/3755 1129-1155/1185 377-385/394 NSGAAGNSA/- AACTCGGGTGCTGCTGGGAACAGCGCC/- 1 -1 NDRG1 HGNC HGNC:7679 protein_coding YES CCDS34945.1 ENSP00000404854 Q92597 UPI000012FEDD NM_001135242.1 16/16 hmmpanther:PTHR11034,hmmpanther:PTHR11034:SF18,mobidb-lite MODERATE 1 deletion 2 1 PASS CCGGCGCTGTTCCCAGCAGCACCCGAGTTG . . 133238907 AL139125.1 . GRCh38 chr10 7471904 7471904 + Splice_Region SNP C C T novel 7316-114 BS_2EJWS3SD C C n.32+7G>A ENST00000420395 72 49 22 51 50 0 AL139125.1,splice_region_variant,,ENST00000420395,;,regulatory_region_variant,,ENSR00000024117,; T ENSG00000232591 ENST00000420395 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AL139125.1 Clone_based_ensembl_gene lincRNA YES 1/3 LOW 1 SNV 3 PASS ACA . . 7471904 MUC5AC . GRCh38 chr11 1192142 1192142 + Missense_Mutation SNP G G A rs1159087102 7316-114 BS_2EJWS3SD G G c.13997G>A p.Arg4666His p.R4666H ENST00000621226 31/49 54 29 21 36 35 0 MUC5AC,missense_variant,p.Arg4666His,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; A ENSG00000215182 ENST00000621226 Transcript missense_variant 14044/17448 13997/16965 4666/5654 R/H cGc/cAc rs1159087102 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.39) unknown(0) 31/49 Pfam_domain:PF13330,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310 MODERATE 1 SNV 5 PASS CGC . . 0.0002297 0.0009357 0.0001058 0.0002787 0.0003036 0.0001992 0.0001001 1192142 MUC5B . GRCh38 chr11 1246332 1246332 + Missense_Mutation SNP C C T rs60268710 7316-114 BS_2EJWS3SD C C c.9452C>T p.Thr3151Met p.T3151M ENST00000529681 31/49 80 56 19 44 44 0 MUC5B,missense_variant,p.Thr3151Met,ENST00000529681,NM_002458.2;AC061979.1,intron_variant,,ENST00000532061,; T ENSG00000117983 ENST00000529681 Transcript missense_variant 9510/17911 9452/17289 3151/5762 T/M aCg/aTg rs60268710 1 1 MUC5B HGNC HGNC:7516 protein_coding YES CCDS44515.2 ENSP00000436812 Q9HC84 UPI0001DD21C7 NM_002458.2 tolerated(0.13) benign(0.029) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,Low_complexity_(Seg):seg 0.3407 0.2133 0.33 0.6012 0.2883 0.3057 0.1919 0.2981 benign MODERATE 1 SNV 5 1 PASS ACG . . 0.321 0.206 0.3087 0.2978 0.6073 0.2863 0.3159 0.3123 0.2833 1246332 MRGPRX4 . GRCh38 chr11 18173280 18173280 + Frame_Shift_Del DEL C C - novel 7316-114 BS_2EJWS3SD C C c.24del p.Phe8LeufsTer5 p.F8Lfs*5 ENST00000314254 1/1 77 36 35 39 37 1 MRGPRX4,frameshift_variant,p.Phe8LeufsTer5,ENST00000314254,NM_054032.3;AC090099.4,intron_variant,,ENST00000527671,; - ENSG00000179817 ENST00000314254 Transcript frameshift_variant 444/1444 24/969 8/322 F/X ttC/tt 1 1 MRGPRX4 HGNC HGNC:17617 protein_coding YES CCDS7831.1 ENSP00000314042 Q96LA9 UPI0000061F60 NM_054032.3 1/1 hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF27 HIGH deletion PASS TTCG . . 18173279 DGAT2 . GRCh38 chr11 75790244 75790244 + Missense_Mutation SNP G G A rs1358254217 7316-114 BS_2EJWS3SD G G c.307G>A p.Ala103Thr p.A103T ENST00000228027 3/8 70 46 23 52 51 0 DGAT2,missense_variant,p.Ala103Thr,ENST00000228027,NM_032564.4;DGAT2,missense_variant,p.Ala60Thr,ENST00000376262,NM_001253891.1;DGAT2,missense_variant,p.Ala57Thr,ENST00000604733,;DGAT2,missense_variant,p.Ala12Thr,ENST00000603276,;DGAT2,missense_variant,p.Ala12Thr,ENST00000604935,;DGAT2,missense_variant,p.Ala12Thr,ENST00000605099,;DGAT2,upstream_gene_variant,,ENST00000603363,;DGAT2,upstream_gene_variant,,ENST00000603865,; A ENSG00000062282 ENST00000228027 Transcript missense_variant 567/2453 307/1167 103/388 A/T Gct/Act rs1358254217 1 1 DGAT2 HGNC HGNC:16940 protein_coding YES CCDS31642.1 ENSP00000228027 Q96PD7 UPI0000048F05 NM_032564.4 tolerated(0.11) benign(0.005) 3/8 hmmpanther:PTHR12317:SF14,hmmpanther:PTHR12317,Pfam_domain:PF03982 MODERATE 1 SNV 1 1 PASS CGC . . 4.067e-06 3.249e-05 75790244 TRIM49D1 . GRCh38 chr11 89912091 89912092 + Splice_Region INS - - AAAT rs776528028 7316-114 BS_2EJWS3SD - - c.860-9_860-6dup ENST00000530311 148 102 25 49 45 0 TRIM49D1,splice_region_variant,,ENST00000420869,NM_001206627.1;TRIM49D1,splice_region_variant,,ENST00000530311,;TRIM49D1,splice_region_variant,,ENST00000605881,;MTND1P35,downstream_gene_variant,,ENST00000526739,; AAAT ENSG00000223417 ENST00000530311 Transcript splice_region_variant,intron_variant rs776528028 1 -1 TRIM49D1 HGNC HGNC:43973 protein_coding YES CCDS60930.1 ENSP00000474850 C9J1S8 UPI00006C117A 7/7 LOW 1 insertion 5 PASS CAA . . 0.09251 0.07062 0.09995 0.1158 0.06023 0.1401 0.08529 0.08191 0.06885 89912091 KDM4E . GRCh38 chr11 95026702 95026702 + Missense_Mutation SNP C C T novel 7316-114 BS_2EJWS3SD C C c.1145C>T p.Pro382Leu p.P382L ENST00000450979 1/1 85 54 26 48 48 0 KDM4E,missense_variant,p.Pro382Leu,ENST00000450979,NM_001161630.1;AP002383.5,upstream_gene_variant,,ENST00000616726,; T ENSG00000235268 ENST00000450979 Transcript missense_variant 1445/2339 1145/1521 382/506 P/L cCc/cTc 1 1 KDM4E HGNC HGNC:37098 protein_coding YES CCDS44713.1 ENSP00000397239 B2RXH2 UPI00001607E8 NM_001161630.1 tolerated(0.32) benign(0.228) 1/1 hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF34 MODERATE 1 SNV PASS CCC . . 95026702 ATM . GRCh38 chr11 108251941 108251941 + Missense_Mutation SNP C C T 7316-114 BS_2EJWS3SD C C c.1712C>T p.Ser571Phe p.S571F ENST00000278616 11/63 45 38 7 43 43 0 ATM,missense_variant,p.Ser571Phe,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Ser571Phe,ENST00000452508,NM_001351834.1;ATM,missense_variant,p.Ser571Phe,ENST00000527805,;ATM,upstream_gene_variant,,ENST00000525012,;ATM,upstream_gene_variant,,ENST00000533526,; T ENSG00000149311 ENST00000278616 Transcript missense_variant 2097/13147 1712/9171 571/3056 S/F tCt/tTt COSM6946275,COSM6946274 1 1 ATM HGNC HGNC:795 protein_coding YES CCDS31669.1 ENSP00000278616 Q13315 A0A024R3C7 UPI000016B511 NM_000051.3 tolerated(0.37) possibly_damaging(0.459) 11/63 PDB-ENSP_mappings:5np0.A,PDB-ENSP_mappings:5np0.B,PDB-ENSP_mappings:5np1.A,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF96 1,1 MODERATE 1 SNV 5 1,1 1 PASS TCT . . 108251941 ATM . GRCh38 chr11 108330226 108330226 + Missense_Mutation SNP G G C rs751537332 7316-114 BS_2EJWS3SD G G c.7320G>C p.Lys2440Asn p.K2440N ENST00000278616 50/63 98 43 53 47 47 0 ATM,missense_variant,p.Lys2440Asn,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Lys2440Asn,ENST00000452508,NM_001351834.1;C11orf65,intron_variant,,ENST00000525729,NM_001330368.1;C11orf65,downstream_gene_variant,,ENST00000524755,;C11orf65,downstream_gene_variant,,ENST00000615746,;ATM,upstream_gene_variant,,ENST00000533979,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,upstream_gene_variant,,ENST00000525056,;ATM,downstream_gene_variant,,ENST00000525537,;ATM,downstream_gene_variant,,ENST00000527389,;C11orf65,downstream_gene_variant,,ENST00000527531,; C ENSG00000149311 ENST00000278616 Transcript missense_variant 7705/13147 7320/9171 2440/3056 K/N aaG/aaC rs751537332 1 1 ATM HGNC HGNC:795 protein_coding YES CCDS31669.1 ENSP00000278616 Q13315 A0A024R3C7 UPI000016B511 NM_000051.3 tolerated(0.06) possibly_damaging(0.637) 50/63 PDB-ENSP_mappings:5np0.A,PDB-ENSP_mappings:5np0.B,PDB-ENSP_mappings:5np1.A,Pfam_domain:PF02259,PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF96,Superfamily_domains:SSF48371 MODERATE SNV 5 1 PASS AGG . . 8.136e-06 1.795e-05 108330226 ATM . GRCh38 chr11 108330248 108330248 + Missense_Mutation SNP G G C 7316-114 BS_2EJWS3SD G G c.7342G>C p.Asp2448His p.D2448H ENST00000278616 50/63 105 45 57 49 48 0 ATM,missense_variant,p.Asp2448His,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Asp2448His,ENST00000452508,NM_001351834.1;C11orf65,intron_variant,,ENST00000525729,NM_001330368.1;C11orf65,downstream_gene_variant,,ENST00000524755,;C11orf65,downstream_gene_variant,,ENST00000615746,;ATM,upstream_gene_variant,,ENST00000533979,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,upstream_gene_variant,,ENST00000525056,;ATM,downstream_gene_variant,,ENST00000525537,;ATM,downstream_gene_variant,,ENST00000527389,;C11orf65,downstream_gene_variant,,ENST00000527531,; C ENSG00000149311 ENST00000278616 Transcript missense_variant 7727/13147 7342/9171 2448/3056 D/H Gat/Cat COSM6939023,COSM1283554,COSM1283553,COSM1235442 1 1 ATM HGNC HGNC:795 protein_coding YES CCDS31669.1 ENSP00000278616 Q13315 A0A024R3C7 UPI000016B511 NM_000051.3 deleterious(0) probably_damaging(0.984) 50/63 PDB-ENSP_mappings:5np0.A,PDB-ENSP_mappings:5np0.B,PDB-ENSP_mappings:5np1.A,Pfam_domain:PF02259,PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF96,Superfamily_domains:SSF48371,Low_complexity_(Seg):seg 1,1,1,1 MODERATE SNV 5 1,1,1,1 1 PASS GGA . . 108330248 ATM . GRCh38 chr11 108330275 108330275 + Missense_Mutation SNP G G C 7316-114 BS_2EJWS3SD G G c.7369G>C p.Glu2457Gln p.E2457Q ENST00000278616 50/63 93 42 49 50 50 0 ATM,missense_variant,p.Glu2457Gln,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Glu2457Gln,ENST00000452508,NM_001351834.1;C11orf65,intron_variant,,ENST00000525729,NM_001330368.1;C11orf65,downstream_gene_variant,,ENST00000524755,;C11orf65,downstream_gene_variant,,ENST00000615746,;ATM,upstream_gene_variant,,ENST00000533979,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,upstream_gene_variant,,ENST00000525056,;ATM,downstream_gene_variant,,ENST00000525537,;ATM,downstream_gene_variant,,ENST00000527389,;C11orf65,downstream_gene_variant,,ENST00000527531,; C ENSG00000149311 ENST00000278616 Transcript missense_variant 7754/13147 7369/9171 2457/3056 E/Q Gag/Cag COSM6980136,COSM6980135 1 1 ATM HGNC HGNC:795 protein_coding YES CCDS31669.1 ENSP00000278616 Q13315 A0A024R3C7 UPI000016B511 NM_000051.3 tolerated(0.12) benign(0.138) 50/63 PDB-ENSP_mappings:5np0.A,PDB-ENSP_mappings:5np0.B,PDB-ENSP_mappings:5np1.A,Pfam_domain:PF02259,PROSITE_profiles:PS51189,Superfamily_domains:SSF48371,Low_complexity_(Seg):seg 1,1 MODERATE SNV 5 1,1 1 PASS AGA . . 108330275 OR8B4 . GRCh38 chr11 124424481 124424481 + Missense_Mutation SNP A G G rs4057750 7316-114 BS_2EJWS3SD A A c.391T>C p.Tyr131His p.Y131H ENST00000356130 1/1 42 5 36 21 16 5 OR8B4,missense_variant,p.Tyr131His,ENST00000356130,NM_001005196.1; G ENSG00000280090 ENST00000356130 Transcript missense_variant 413/990 391/930 131/309 Y/H Tac/Cac rs4057750 1 -1 OR8B4 HGNC HGNC:8473 protein_coding YES CCDS31710.1 ENSP00000348449 Q96RC9 UPI00000015B0 NM_001005196.1 deleterious_low_confidence(0) probably_damaging(0.999) 1/1 PROSITE_profiles:PS50262,cd15405,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF208,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245 0.2600 0.3843 0.1931 0.2163 0.1978 0.2485 0.3412 0.2283 MODERATE 1 SNV PASS TAG . . 0.2242 0.3492 0.1335 0.2735 0.218 0.2038 0.2259 0.233 0.2557 124424481 TAS2R19 . GRCh38 chr12 11022133 11022133 + Missense_Mutation SNP T T C rs796827624 7316-114 BS_2EJWS3SD T T c.439A>G p.Ile147Val p.I147V ENST00000390673 1/1 74 64 7 49 49 0 TAS2R19,missense_variant,p.Ile147Val,ENST00000390673,NM_176888.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000212124 ENST00000390673 Transcript missense_variant 488/1002 439/900 147/299 I/V Ata/Gta rs796827624 1 -1 TAS2R19 HGNC HGNC:19108 protein_coding YES CCDS8640.1 ENSP00000375091 P59542 UPI000000D7CF NM_176888.2 tolerated(1) benign(0.015) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF27,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15027 MODERATE SNV PASS ATC . . 11022133 TAS2R19 . GRCh38 chr12 11022166 11022166 + Missense_Mutation SNP G G A rs199722277 7316-114 BS_2EJWS3SD G G c.406C>T p.Pro136Ser p.P136S ENST00000390673 1/1 72 60 8 59 58 0 TAS2R19,missense_variant,p.Pro136Ser,ENST00000390673,NM_176888.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; A ENSG00000212124 ENST00000390673 Transcript missense_variant 455/1002 406/900 136/299 P/S Ccc/Tcc rs199722277,COSM4443642 1 -1 TAS2R19 HGNC HGNC:19108 protein_coding YES CCDS8640.1 ENSP00000375091 P59542 UPI000000D7CF NM_176888.2 tolerated(1) benign(0.01) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF27,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15027 0,1 MODERATE SNV 0,1 PASS GGC . . 4.065e-06 3.249e-05 11022166 KRT18 . GRCh38 chr12 52949374 52949374 + Missense_Mutation SNP A A G rs77364359 7316-114 BS_2EJWS3SD A A c.201A>G p.Ile67Met p.I67M ENST00000388835 1/7 98 72 24 43 43 0 KRT18,missense_variant,p.Ile67Met,ENST00000550600,;KRT18,missense_variant,p.Ile67Met,ENST00000388835,NM_000224.2;KRT18,missense_variant,p.Ile67Met,ENST00000388837,NM_199187.1;KRT8,intron_variant,,ENST00000546826,;KRT8,intron_variant,,ENST00000546897,NM_001256293.1;KRT8,intron_variant,,ENST00000548998,;KRT8,intron_variant,,ENST00000552551,;KRT8,intron_variant,,ENST00000619952,;KRT8,intron_variant,,ENST00000549198,;KRT8,intron_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT8,non_coding_transcript_exon_variant,,ENST00000546921,;KRT18,upstream_gene_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548015,;KRT18,upstream_gene_variant,,ENST00000548496,;,regulatory_region_variant,,ENSR00000052118,; G ENSG00000111057 ENST00000388835 Transcript missense_variant 411/1562 201/1293 67/430 I/M atA/atG rs77364359,COSM4590193 1 1 KRT18 HGNC HGNC:6430 protein_coding YES CCDS31809.1 ENSP00000373487 P05783 A0A024RAY2 UPI000004284B NM_000224.2 tolerated(1) benign(0) 1/7 Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF35 0,1 MODERATE 1 SNV 1 0,1 PASS TAG . . 52949374 PTGES3 . GRCh38 chr12 56673001 56673001 + Missense_Mutation SNP C C T rs11171924 7316-114 BS_2EJWS3SD C C c.79G>A p.Asp27Asn p.D27N ENST00000614328 3/9 77 40 36 59 58 0 PTGES3,missense_variant,p.Asp27Asn,ENST00000614328,NM_001282604.1;PTGES3,missense_variant,p.Asp23Asn,ENST00000262033,NM_006601.6;PTGES3,missense_variant,p.Asp23Asn,ENST00000414274,NM_001282602.1,NM_001282605.1;PTGES3,missense_variant,p.Asp23Asn,ENST00000448157,NM_001282601.1;PTGES3,missense_variant,p.Asp23Asn,ENST00000456859,;PTGES3,missense_variant,p.Asp23Asn,ENST00000436399,NM_001282603.1;RN7SL809P,upstream_gene_variant,,ENST00000482040,;PTGES3,non_coding_transcript_exon_variant,,ENST00000537473,; T ENSG00000110958 ENST00000614328 Transcript missense_variant 525/2077 79/495 27/164 D/N Gac/Aac rs11171924 1 -1 PTGES3 HGNC HGNC:16049 protein_coding YES CCDS73485.1 ENSP00000482075 A0A087WYT3 UPI00020A9F9B NM_001282604.1 tolerated(0.1) probably_damaging(0.923) 3/9 Gene3D:2.60.40.790,Pfam_domain:PF04969,PROSITE_profiles:PS51203,hmmpanther:PTHR22932,hmmpanther:PTHR22932:SF3,Superfamily_domains:SSF49764,cd00237 MODERATE 1 SNV 3 PASS TCT . . 56673001 MON2 . GRCh38 chr12 62547005 62547005 + Missense_Mutation SNP G G A novel 7316-114 BS_2EJWS3SD G G c.2686G>A p.Gly896Arg p.G896R ENST00000393630 22/35 68 34 33 53 53 0 MON2,missense_variant,p.Gly896Arg,ENST00000393630,NM_015026.2,NM_001278472.1;MON2,missense_variant,p.Gly897Arg,ENST00000641654,;MON2,missense_variant,p.Gly896Arg,ENST00000546600,NM_001278469.1;MON2,missense_variant,p.Gly896Arg,ENST00000393629,NM_001278470.1;MON2,missense_variant,p.Gly873Arg,ENST00000552738,NM_001278471.1;MON2,missense_variant,p.Gly896Arg,ENST00000552115,;RNU6-399P,upstream_gene_variant,,ENST00000365164,;MON2,3_prime_UTR_variant,,ENST00000547095,; A ENSG00000061987 ENST00000393630 Transcript missense_variant 3077/13275 2686/5154 896/1717 G/R Gga/Aga 1 1 MON2 HGNC HGNC:29177 protein_coding YES CCDS31849.1 ENSP00000377250 Q7Z3U7 UPI00001AEA4C NM_015026.2,NM_001278472.1 deleterious(0) probably_damaging(0.999) 22/35 hmmpanther:PTHR44195,Gene3D:1.25.10.10,Pfam_domain:PF09324,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS GGG . . 62547005 ATP12A . GRCh38 chr13 24700872 24700872 + Missense_Mutation SNP C C T rs1388344681 7316-114 BS_2EJWS3SD C C c.1849C>T p.Arg617Trp p.R617W ENST00000218548 13/23 108 73 33 42 42 0 ATP12A,missense_variant,p.Arg611Trp,ENST00000381946,NM_001676.5;ATP12A,missense_variant,p.Arg617Trp,ENST00000218548,NM_001185085.1;RNY1P7,downstream_gene_variant,,ENST00000384743,;RPL26P34,downstream_gene_variant,,ENST00000431005,; T ENSG00000075673 ENST00000218548 Transcript missense_variant 2182/3732 1849/3138 617/1045 R/W Cgg/Tgg rs1388344681,COSM4473424,COSM3968576 1 1 ATP12A HGNC HGNC:13816 protein_coding YES CCDS53858.1 ENSP00000218548 P54707 UPI000006D1DE NM_001185085.1 deleterious(0.02) possibly_damaging(0.677) 13/23 SFLDF00027,SFLDS00003,SFLDG00002,cd02608,TIGRFAM_domain:TIGR01106,Gene3D:3.40.1110.10,Superfamily_domains:SSF56784,hmmpanther:PTHR43294:SF1,hmmpanther:PTHR43294,Prints_domain:PR00119 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TCG . . 4.061e-06 8.951e-06 24700872 RNASE2 . GRCh38 chr14 20956204 20956204 + Nonsense_Mutation SNP C T T 7316-114 BS_2EJWS3SD C C c.433C>T p.Arg145Ter p.R145* ENST00000304625 2/2 44 3 40 36 36 0 RNASE2,stop_gained,p.Arg145Ter,ENST00000304625,NM_002934.2; T ENSG00000169385 ENST00000304625 Transcript stop_gained 523/755 433/486 145/161 R/* Cga/Tga COSM4049757 1 1 RNASE2 HGNC HGNC:10045 protein_coding YES CCDS9561.1 ENSP00000303276 P10153 W0UV60 UPI000004D2F8 NM_002934.2 2/2 PDB-ENSP_mappings:1gqv.A,PDB-ENSP_mappings:1hi2.A,PDB-ENSP_mappings:1hi3.A,PDB-ENSP_mappings:1hi4.A,PDB-ENSP_mappings:1hi5.A,PDB-ENSP_mappings:1k2a.A,PDB-ENSP_mappings:2bex.C,PDB-ENSP_mappings:2bex.D,PDB-ENSP_mappings:2bzz.A,PDB-ENSP_mappings:2c01.X,PDB-ENSP_mappings:2c02.A,PDB-ENSP_mappings:2c05.A,Gene3D:3.10.130.10,PDB-ENSP_mappings:5e13.A,blastprodom:PD000535,Pfam_domain:PF00074,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF3,SMART_domains:SM00092,Superfamily_domains:SSF54076,cd06265 1 HIGH 1 SNV 1 1 PASS ACG . . 20956204 ZFHX2 . GRCh38 chr14 23531517 23531517 + Missense_Mutation SNP T C C novel 7316-114 BS_2EJWS3SD T T c.2764A>G p.Ile922Val p.I922V ENST00000419474 4/10 43 4 39 41 41 0 ZFHX2,missense_variant,p.Ile922Val,ENST00000419474,NM_033400.2;ZFHX2,synonymous_variant,p.Ala407=,ENST00000615307,;ZFHX2,downstream_gene_variant,,ENST00000412565,;ZFHX2,downstream_gene_variant,,ENST00000555334,;AL135999.2,non_coding_transcript_exon_variant,,ENST00000622438,;ZFHX2-AS1,intron_variant,,ENST00000553985,;ZFHX2-AS1,intron_variant,,ENST00000556354,;ZFHX2-AS1,intron_variant,,ENST00000554403,; C ENSG00000136367 ENST00000419474 Transcript missense_variant 3120/9182 2764/7719 922/2572 I/V Atc/Gtc 1 -1 ZFHX2 HGNC HGNC:20152 protein_coding YES CCDS55907.1 ENSP00000413418 Q9C0A1 UPI000198D01B NM_033400.2 tolerated(0.25) unknown(0) 4/10 hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF119 MODERATE SNV 5 1 PASS ATG . . 23531517 FLRT2 . GRCh38 chr14 85623280 85623280 + Missense_Mutation SNP G C C novel 7316-114 BS_2EJWS3SD G G c.1766G>C p.Cys589Ser p.C589S ENST00000330753 2/2 40 8 31 28 28 0 FLRT2,missense_variant,p.Cys589Ser,ENST00000330753,NM_013231.4;FLRT2,missense_variant,p.Cys589Ser,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,; C ENSG00000185070 ENST00000330753 Transcript missense_variant 2533/33679 1766/1983 589/660 C/S tGc/tCc 1 1 FLRT2 HGNC HGNC:3761 protein_coding YES CCDS9877.1 ENSP00000332879 O43155 UPI0000049E10 NM_013231.4 deleterious(0.01) benign(0.062) 2/2 hmmpanther:PTHR44070,hmmpanther:PTHR44070:SF1 MODERATE 1 SNV 1 PASS TGC . . 85623280 PCSK6 . GRCh38 chr15 101382177 101382177 + Missense_Mutation SNP C C T rs200341257 7316-114 BS_2EJWS3SD C C c.1447G>A p.Ala483Thr p.A483T ENST00000611716 11/22 117 77 37 36 36 0 PCSK6,missense_variant,p.Ala483Thr,ENST00000611716,NM_002570.4;PCSK6,missense_variant,p.Ala483Thr,ENST00000618548,NM_138319.3;PCSK6,missense_variant,p.Ala483Thr,ENST00000611967,NM_138324.2;PCSK6,missense_variant,p.Ala483Thr,ENST00000622483,;PCSK6,missense_variant,p.Ala483Thr,ENST00000619160,;PCSK6,missense_variant,p.Ala483Thr,ENST00000615296,NM_138323.2;PCSK6,missense_variant,p.Ala483Thr,ENST00000331826,NM_138325.3;PCSK6,intron_variant,,ENST00000398185,NM_001291309.1;PCSK6,downstream_gene_variant,,ENST00000559417,NM_138322.3;PCSK6,intron_variant,,ENST00000557794,;PCSK6,upstream_gene_variant,,ENST00000560902,;PCSK6,non_coding_transcript_exon_variant,,ENST00000558154,; T ENSG00000140479 ENST00000611716 Transcript missense_variant 1616/4409 1447/2910 483/969 A/T Gca/Aca rs200341257 1 -1 PCSK6 HGNC HGNC:8569 protein_coding YES CCDS73790.1 ENSP00000482760 P29122 UPI00001311D0 NM_002570.4 deleterious(0) probably_damaging(0.999) 11/22 Gene3D:3.40.50.200,hmmpanther:PTHR42884,hmmpanther:PTHR42884:SF8,Superfamily_domains:SSF52743 MODERATE 1 SNV 1 PASS GCG . . 9.033e-05 6.74e-05 0.0001024 0.0001626 0.0003689 101382177 FBXO39 . GRCh38 chr17 6780575 6780575 + Missense_Mutation SNP T T C novel 7316-114 BS_2EJWS3SD T T c.707T>C p.Ile236Thr p.I236T ENST00000321535 2/4 98 73 22 32 31 0 FBXO39,missense_variant,p.Ile236Thr,ENST00000321535,NM_153230.2;XAF1,downstream_gene_variant,,ENST00000361842,NM_017523.3,NM_001353135.1;PRAL,upstream_gene_variant,,ENST00000624952,; C ENSG00000177294 ENST00000321535 Transcript missense_variant 837/1677 707/1329 236/442 I/T aTc/aCc 1 1 FBXO39 HGNC HGNC:28565 protein_coding YES CCDS11082.1 ENSP00000321386 Q8N4B4 UPI000006D9B1 NM_153230.2 deleterious(0) benign(0.051) 2/4 Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR10706,hmmpanther:PTHR10706:SF130,Superfamily_domains:SSF52047 MODERATE 1 SNV 1 PASS ATC . . 6780575 ARHGAP28 . GRCh38 chr18 6870625 6870625 + Missense_Mutation SNP G G T novel 7316-114 BS_2EJWS3SD G G c.370G>T p.Ala124Ser p.A124S ENST00000419673 6/17 78 37 38 50 50 0 ARHGAP28,missense_variant,p.Ala124Ser,ENST00000419673,NM_001010000.2;ARHGAP28,missense_variant,p.Ala124Ser,ENST00000314319,;ARHGAP28,missense_variant,p.Ala231Ser,ENST00000262227,;ARHGAP28,missense_variant,p.Ala283Ser,ENST00000383472,;ARHGAP28,missense_variant,p.Ala119Ser,ENST00000531294,;ARHGAP28,missense_variant,p.Ala106Ser,ENST00000532996,;ARHGAP28,upstream_gene_variant,,ENST00000579689,;ARHGAP28,downstream_gene_variant,,ENST00000581099,;AP005210.1,downstream_gene_variant,,ENST00000583659,;ARHGAP28,3_prime_UTR_variant,,ENST00000577524,;ARHGAP28,3_prime_UTR_variant,,ENST00000584287,;ARHGAP28,upstream_gene_variant,,ENST00000579245,; T ENSG00000088756 ENST00000419673 Transcript missense_variant 587/5492 370/1713 124/570 A/S Gct/Tct 1 1 ARHGAP28 HGNC HGNC:25509 protein_coding YES CCDS32785.1 ENSP00000392660 Q9P2N2 UPI00004CEC5C NM_001010000.2 tolerated(0.26) benign(0.014) 6/17 Gene3D:1.10.555.10,hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF5 MODERATE 1 SNV 1 PASS GGC . . 6870625 NXNL1 . GRCh38 chr19 17460805 17460805 + Missense_Mutation SNP G G A rs375513833 7316-114 BS_2EJWS3SD G G c.65C>T p.Thr22Met p.T22M ENST00000301944 1/2 80 41 37 43 42 0 NXNL1,missense_variant,p.Thr22Met,ENST00000301944,NM_138454.1;AC010319.2,upstream_gene_variant,,ENST00000594663,; A ENSG00000171773 ENST00000301944 Transcript missense_variant 150/946 65/639 22/212 T/M aCg/aTg rs375513833,COSM5569499 1 -1 NXNL1 HGNC HGNC:25179 protein_coding YES CCDS12360.1 ENSP00000305631 Q96CM4 UPI00000540D3 NM_138454.1 deleterious(0.03) probably_damaging(0.948) 1/2 Gene3D:3.40.30.10,PROSITE_profiles:PS51352,hmmpanther:PTHR13871,hmmpanther:PTHR13871:SF25,Superfamily_domains:SSF52833,cd03008 0.0001163 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 1.626e-05 5.798e-05 1.792e-05 3.249e-05 17460805 PAK5 . GRCh38 chr20 9580647 9580647 + Missense_Mutation SNP C T T novel 7316-114 BS_2EJWS3SD C C c.488G>A p.Ser163Asn p.S163N ENST00000378429 5/11 47 10 36 37 37 0 PAK5,missense_variant,p.Ser163Asn,ENST00000378429,NM_020341.3;PAK5,missense_variant,p.Ser163Asn,ENST00000378423,;PAK5,missense_variant,p.Ser163Asn,ENST00000353224,NM_177990.2;AL353612.1,downstream_gene_variant,,ENST00000428769,; T ENSG00000101349 ENST00000378429 Transcript missense_variant 1035/4780 488/2160 163/719 S/N aGc/aAc 1 -1 PAK5 HGNC HGNC:15916 protein_coding YES CCDS13107.1 ENSP00000367686 Q9P286 UPI0000035BAD NM_020341.3 tolerated(0.19) benign(0) 5/11 hmmpanther:PTHR24361:SF183,hmmpanther:PTHR24361 MODERATE 1 SNV 1 PASS GCT . . 9580647 GGTLC1 . GRCh38 chr20 23985691 23985708 + In_Frame_Del DEL CGTGACGTTGGGCAGAAG - - novel 7316-114 BS_2EJWS3SD CGTGACGTTGGGCAGAAG CGTGACGTTGGGCAGAAG c.490_507del p.Leu164_Thr169del p.L164_T169del ENST00000335694 5/6 39 8 30 51 51 0 GGTLC1,inframe_deletion,p.Leu164_Thr169del,ENST00000335694,NM_178311.2;GGTLC1,inframe_deletion,p.Leu164_Thr169del,ENST00000286890,;GGTLC1,inframe_deletion,p.Leu164_Thr169del,ENST00000278765,NM_178312.2;POM121L3P,upstream_gene_variant,,ENST00000419331,;AL133466.1,upstream_gene_variant,,ENST00000447582,; - ENSG00000149435 ENST00000335694 Transcript inframe_deletion 695-712/1046 490-507/678 164-169/225 LLPNVT/- CTTCTGCCCAACGTCACG/- 1 -1 GGTLC1 HGNC HGNC:16437 protein_coding YES CCDS13163.1 ENSP00000337587 Q9BX51 UPI0000073C4D NM_178311.2 5/6 hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF28,Pfam_domain:PF01019,Superfamily_domains:SSF56235 MODERATE 1 deletion 1 PASS GTCGTGACGTTGGGCAGAAGC . . 23985690 FAM83D . GRCh38 chr20 38952302 38952302 + Missense_Mutation SNP C G G 7316-114 BS_2EJWS3SD C C c.1540C>G p.Pro514Ala p.P514A ENST00000619850 4/4 37 5 30 45 43 0 FAM83D,missense_variant,p.Pro544Ala,ENST00000619304,;FAM83D,missense_variant,p.Pro514Ala,ENST00000619850,NM_030919.2;AL023803.2,upstream_gene_variant,,ENST00000620080,; G ENSG00000101447 ENST00000619850 Transcript missense_variant 1557/2361 1540/1758 514/585 P/A Ccc/Gcc COSM6660222 1 1 FAM83D HGNC HGNC:16122 protein_coding YES CCDS42872.2 ENSP00000481465 Q9H4H8 UPI0000128607 NM_030919.2 deleterious(0.03) benign(0.02) 4/4 hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF7 1 MODERATE 1 SNV 1 1 PASS CCC . . 38952302 TSHZ2 . GRCh38 chr20 53256414 53256414 + Missense_Mutation SNP G T T novel 7316-114 BS_2EJWS3SD G G c.2956G>T p.Ala986Ser p.A986S ENST00000371497 2/3 40 6 32 43 43 0 TSHZ2,missense_variant,p.Ala986Ser,ENST00000371497,NM_173485.5;TSHZ2,missense_variant,p.Ala983Ser,ENST00000603338,NM_001193421.1;TSHZ2,missense_variant,p.Ala983Ser,ENST00000329613,;AL109930.1,non_coding_transcript_exon_variant,,ENST00000606932,;TSHZ2,missense_variant,p.Ala146Ser,ENST00000605656,; T ENSG00000182463 ENST00000371497 Transcript missense_variant 3843/12187 2956/3105 986/1034 A/S Gcc/Tcc 1 1 TSHZ2 HGNC HGNC:13010 protein_coding YES CCDS33490.1 ENSP00000360552 Q9NRE2 UPI0000206747 NM_173485.5 tolerated(0.54) benign(0.037) 2/3 Gene3D:3.30.160.60,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF3 MODERATE 1 SNV 1 PASS TGC . . 53256414 TSHZ2 . GRCh38 chr20 53256415 53256415 + Missense_Mutation SNP C T T novel 7316-114 BS_2EJWS3SD C C c.2957C>T p.Ala986Val p.A986V ENST00000371497 2/3 40 6 32 44 44 0 TSHZ2,missense_variant,p.Ala986Val,ENST00000371497,NM_173485.5;TSHZ2,missense_variant,p.Ala983Val,ENST00000603338,NM_001193421.1;TSHZ2,missense_variant,p.Ala983Val,ENST00000329613,;AL109930.1,non_coding_transcript_exon_variant,,ENST00000606932,;TSHZ2,missense_variant,p.Ala146Val,ENST00000605656,; T ENSG00000182463 ENST00000371497 Transcript missense_variant 3844/12187 2957/3105 986/1034 A/V gCc/gTc 1 1 TSHZ2 HGNC HGNC:13010 protein_coding YES CCDS33490.1 ENSP00000360552 Q9NRE2 UPI0000206747 NM_173485.5 tolerated(0.21) benign(0.001) 2/3 Gene3D:3.30.160.60,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF3 MODERATE 1 SNV 1 PASS GCC . . 53256415 RPGR . GRCh38 chrX 38304669 38304678 + Frame_Shift_Del DEL AATATAACTT AATATAACTT - novel 7316-114 BS_2EJWS3SD AATATAACTT AATATAACTT c.891_900del p.Ser298LeufsTer9 p.S298Lfs*9 ENST00000378505 8/15 93 54 37 43 43 0 RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000378505,NM_001034853.1;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000645032,;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000339363,;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000318842,;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000642395,NM_000328.2;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000644337,;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000644238,;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000647261,;RPGR,frameshift_variant,p.Ser267LeufsTer9,ENST00000642558,;RPGR,frameshift_variant,p.Ser33LeufsTer9,ENST00000494707,;AF241726.2,intron_variant,,ENST00000465127,;RPGR,upstream_gene_variant,,ENST00000464437,;RF00322,downstream_gene_variant,,ENST00000516241,;RPGR,intron_variant,,ENST00000642170,;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000646020,;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000482855,;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000642739,;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000645124,;RPGR,frameshift_variant,p.Ser298LeufsTer9,ENST00000474584,;RPGR,non_coding_transcript_exon_variant,,ENST00000494841,;RPGR,downstream_gene_variant,,ENST00000642373,; - ENSG00000156313 ENST00000378505 Transcript frameshift_variant 1068-1077/4768 891-900/3459 297-300/1152 ISYI/X atAAGTTATATT/at 1 -1 RPGR HGNC HGNC:10295 protein_coding YES CCDS35229.1 ENSP00000367766 Q92834 UPI00005D3C95 NM_001034853.1 8/15 Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_patterns:PS00626,PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF321,Superfamily_domains:SSF50985 HIGH 1 deletion 5 1 PASS GAAATATAACTTA . . 38304668 AL357055.3 . GRCh38 chr1 113048567 113048567 + Splice_Region SNP C C A rs1180128407 7316-388 BS_872YDFKD C C n.168-6G>T ENST00000421157 46 37 8 26 25 0 AL357055.3,splice_region_variant,,ENST00000421157,;SLC16A1-AS1,downstream_gene_variant,,ENST00000413231,;SLC16A1-AS1,downstream_gene_variant,,ENST00000451149,;SLC16A1-AS1,downstream_gene_variant,,ENST00000627431,; A ENSG00000238198 ENST00000421157 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1180128407 1 -1 AL357055.3 Clone_based_ensembl_gene lincRNA YES 1/2 LOW 1 SNV 1 PASS CCA . . 113048567 H3F3A . GRCh38 chr1 226064434 226064434 + Missense_Mutation SNP A A T rs1057519903 7316-388 BS_872YDFKD A A c.83A>T p.Lys28Met p.K28M ENST00000366813 1/3 145 108 33 54 54 0 H3F3A,missense_variant,p.Lys28Met,ENST00000366814,;H3F3A,missense_variant,p.Lys28Met,ENST00000366813,;H3F3A,missense_variant,p.Lys28Met,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Lys28Met,ENST00000366816,;AL512343.2,upstream_gene_variant,,ENST00000609423,;,regulatory_region_variant,,ENSR00000021067,; T ENSG00000163041 ENST00000366813 Transcript missense_variant 458/1308 83/411 28/136 K/M aAg/aTg rs1057519903,COSM327928,COSM1961654 1 1 H3F3A HGNC HGNC:4764 protein_coding YES CCDS1550.1 ENSP00000355778 P84243 B2R4P9 UPI00000007B0 deleterious_low_confidence(0.01) possibly_damaging(0.697) 1/3 Gene3D:1.10.20.10,PDB-ENSP_mappings:3av2.A,PDB-ENSP_mappings:3av2.E,PDB-ENSP_mappings:3muk.D,PDB-ENSP_mappings:3wtp.E,PDB-ENSP_mappings:4h9n.A,PDB-ENSP_mappings:4h9o.A,PDB-ENSP_mappings:4h9p.A,PDB-ENSP_mappings:4h9q.A,PDB-ENSP_mappings:4h9r.A,PDB-ENSP_mappings:4h9s.A,PDB-ENSP_mappings:4h9s.B,PDB-ENSP_mappings:4hga.B,PDB-ENSP_mappings:4n4i.B,PDB-ENSP_mappings:5ay8.A,PDB-ENSP_mappings:5ay8.E,PDB-ENSP_mappings:5b32.A,PDB-ENSP_mappings:5b32.E,PDB-ENSP_mappings:5b33.A,PDB-ENSP_mappings:5b33.E,PDB-ENSP_mappings:5dwq.F,PDB-ENSP_mappings:5dwq.G,PDB-ENSP_mappings:5dx0.F,PDB-ENSP_mappings:5dx0.G,PDB-ENSP_mappings:5dx0.H,PDB-ENSP_mappings:5dx0.I,PDB-ENSP_mappings:5kdm.A,PDB-ENSP_mappings:5x7x.A,PDB-ENSP_mappings:5x7x.E,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Superfamily_domains:SSF47113,mobidb-lite likely_pathogenic 1,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS AAG . . 226064434 OBSCN . GRCh38 chr1 228280757 228280757 + Missense_Mutation SNP G A A rs1188697 7316-388 BS_872YDFKD G G c.9445G>A p.Val3149Met p.V3149M ENST00000570156 35/116 119 31 86 25 20 5 OBSCN,missense_variant,p.Val3149Met,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Val3149Met,ENST00000366707,;OBSCN,missense_variant,p.Val2720Met,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Val2720Met,ENST00000636875,;OBSCN,missense_variant,p.Val2720Met,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Val568Met,ENST00000366706,;OBSCN,upstream_gene_variant,,ENST00000483539,;AL353593.2,upstream_gene_variant,,ENST00000602529,;AL353593.2,upstream_gene_variant,,ENST00000602947,;OBSCN,non_coding_transcript_exon_variant,,ENST00000366704,; A ENSG00000154358 ENST00000570156 Transcript missense_variant 9519/26925 9445/26772 3149/8923 V/M Gtg/Atg rs1188697,COSM425512,COSM1473507,COSM1473506 1 1 OBSCN HGNC HGNC:15719 protein_coding YES CCDS59204.1 ENSP00000455507 A6NGQ3 UPI00027FCDB5 NM_001271223.2 tolerated(0.08) possibly_damaging(0.902) 35/116 Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF30,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd00096 0.3189 0.469 0.3343 0.247 0.2962 0.2025 0.3323 0.2785 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS CGT . . 0.2947 0.3907 0.2927 0.2392 0.202 0.3793 0.3061 0.2924 0.2259 228280757 OR2T27 . GRCh38 chr1 248650718 248650718 + Missense_Mutation SNP T T C novel 7316-388 BS_872YDFKD T T c.167A>G p.His56Arg p.H56R ENST00000641652 3/3 95 76 13 28 28 0 OR2T27,missense_variant,p.His56Arg,ENST00000641652,;OR2T27,missense_variant,p.His56Arg,ENST00000460972,;OR2T27,missense_variant,p.His56Arg,ENST00000344889,NM_001001824.1;,regulatory_region_variant,,ENSR00000257767,; C ENSG00000187701 ENST00000641652 Transcript missense_variant 405/1285 167/954 56/317 H/R cAc/cGc 1 -1 OR2T27 HGNC HGNC:31252 protein_coding YES CCDS31124.1 ENSP00000493434 Q8NH04 UPI000004F239 deleterious(0.01) benign(0.421) 3/3 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF78,Superfamily_domains:SSF81321,cd15421 MODERATE 1 SNV PASS GTG . . 248650718 PROS1 . GRCh38 chr3 93892929 93892929 + Splice_Region SNP G G A rs548576399 7316-388 BS_872YDFKD G G c.1155+4C>T ENST00000394236 98 57 39 49 49 0 PROS1,splice_region_variant,,ENST00000394236,NM_001314077.1,NM_000313.3;PROS1,splice_region_variant,,ENST00000407433,; A ENSG00000184500 ENST00000394236 Transcript splice_region_variant,intron_variant rs548576399 1 -1 PROS1 HGNC HGNC:9456 protein_coding YES CCDS2923.1 ENSP00000377783 P07225 A0A0S2Z4K3 UPI00001323E8 NM_001314077.1,NM_000313.3 10/14 LOW 1 SNV 1 1 PASS CGT . . 4.067e-05 8.934e-05 0.0001739 3.591e-05 93892929 AC125618.1 . GRCh38 chr3 180584682 180584682 + Splice_Region SNP C C A rs983607677 7316-388 BS_872YDFKD C C n.90-5G>T ENST00000472596 76 61 12 33 31 1 AC125618.1,splice_region_variant,,ENST00000472596,;RNU6-486P,downstream_gene_variant,,ENST00000363116,; A ENSG00000239774 ENST00000472596 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs983607677 1 -1 AC125618.1 Clone_based_ensembl_gene lincRNA YES 1/2 LOW 1 SNV 4 PASS TCA . . 180584682 SOX2-OT . GRCh38 chr3 181783622 181783622 + Splice_Region SNP C C T rs1206422159 7316-388 BS_872YDFKD C C n.415-3C>T ENST00000597651 93 85 7 41 41 0 SOX2-OT,splice_region_variant,,ENST00000597651,;SOX2-OT,intron_variant,,ENST00000498226,;SOX2-OT,intron_variant,,ENST00000593330,;SOX2-OT,intron_variant,,ENST00000595084,;SOX2-OT,intron_variant,,ENST00000598474,;SOX2-OT,intron_variant,,ENST00000600386,;SOX2-OT,intron_variant,,ENST00000600778,;SOX2-OT,intron_variant,,ENST00000627501,;SOX2-OT,intron_variant,,ENST00000628343,;SOX2-OT,intron_variant,,ENST00000629112,;SOX2-OT,intron_variant,,ENST00000629781,;SOX2-OT,intron_variant,,ENST00000629830,;SOX2-OT,intron_variant,,ENST00000630553,;SOX2-OT,intron_variant,,ENST00000630887,;SOX2-OT,downstream_gene_variant,,ENST00000595287,;SOX2-OT,downstream_gene_variant,,ENST00000627530,; T ENSG00000242808 ENST00000597651 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1206422159 1 1 SOX2-OT HGNC HGNC:20209 sense_overlapping 2/2 LOW SNV 5 PASS TCA . . 181783622 PDGFRA . GRCh38 chr4 54285926 54285926 + Missense_Mutation SNP A A T rs121908585 7316-388 BS_872YDFKD A A c.2525A>T p.Asp842Val p.D842V ENST00000257290 18/23 125 57 64 50 48 0 PDGFRA,missense_variant,p.Asp842Val,ENST00000257290,NM_006206.4,NM_001347828.1,NM_001347829.1,NM_001347830.1;AC058822.1,missense_variant,p.Asp602Val,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000507536,;PDGFRA,downstream_gene_variant,,ENST00000509490,; T ENSG00000134853 ENST00000257290 Transcript missense_variant 2856/6576 2525/3270 842/1089 D/V gAc/gTc rs121908585,COSM736 1 1 PDGFRA HGNC HGNC:8803 protein_coding YES CCDS3495.1 ENSP00000257290 P16234 UPI0000131793 NM_006206.4,NM_001347828.1,NM_001347829.1,NM_001347830.1 deleterious(0) probably_damaging(1) 18/23 cd05105,PIRSF_domain:PIRSF500950,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000615,Pfam_domain:PF07714,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF53,hmmpanther:PTHR24416 pathogenic 1,1 12522257,17087943 MODERATE 1 SNV 1 1,1 1 PASS GAC . . 54285926 SLC9B1 . GRCh38 chr4 102905600 102905600 + Missense_Mutation SNP T T C rs879081874 7316-388 BS_872YDFKD T T c.1246A>G p.Thr416Ala p.T416A ENST00000296422 11/12 61 50 10 60 59 1 SLC9B1,missense_variant,p.Thr416Ala,ENST00000296422,NM_139173.3;SLC9B1,missense_variant,p.Thr416Ala,ENST00000394789,NM_001100874.2;SLC9B1,downstream_gene_variant,,ENST00000511253,;SLC9B1,intron_variant,,ENST00000509614,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,downstream_gene_variant,,ENST00000510243,; C ENSG00000164037 ENST00000296422 Transcript missense_variant 1388/1879 1246/1548 416/515 T/A Aca/Gca rs879081874,COSM3733506 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 deleterious(0.05) benign(0.246) 11/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.0001455 0.0006806 0.0001849 0.0001027 0.0003015 9.131e-05 9.977e-05 102905600 LARP7 . GRCh38 chr4 112657326 112657327 + Frame_Shift_Ins INS - - A rs779739953 7316-388 BS_872YDFKD - - c.*9dup ENST00000509061 15/15 56 46 6 44 41 0 LARP7,frameshift_variant,,ENST00000509061,NM_001267039.1;LARP7,frameshift_variant,,ENST00000344442,NM_016648.3;LARP7,frameshift_variant,,ENST00000324052,NM_015454.2;LARP7,downstream_gene_variant,,ENST00000511529,;LARP7,downstream_gene_variant,,ENST00000513553,;LARP7,non_coding_transcript_exon_variant,,ENST00000503898,;LARP7,3_prime_UTR_variant,,ENST00000509622,;LARP7,downstream_gene_variant,,ENST00000512361,; A ENSG00000174720 ENST00000509061 Transcript frameshift_variant,stop_retained_variant 2072-2073/2332 1769-1770/1770 590/589 * tga/tgAa rs779739953,TMP_ESP_4_113578483_113578483 1 1 LARP7 HGNC HGNC:24912 protein_coding YES CCDS58924.1 ENSP00000422626 Q4G0J3 UPI000020B34C NM_001267039.1 15/15 0.03271 0.02416 HIGH 1 insertion 1 10 1 PASS TGA . . 0.0339 0.03131 0.05725 0.04806 0.05118 0.009242 0.02871 0.04234 0.04809 112657326 PRDM9 . GRCh38 chr5 23527278 23527278 + Missense_Mutation SNP C C A rs56256550 7316-388 BS_872YDFKD C C c.2190C>A p.Ser730Arg p.S730R ENST00000296682 11/11 41 30 7 26 25 0 PRDM9,missense_variant,p.Ser730Arg,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,;,regulatory_region_variant,,ENSR00000314203,; A ENSG00000164256 ENST00000296682 Transcript missense_variant 2372/3691 2190/2685 730/894 S/R agC/agA rs56256550,COSM1567726 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(0.06) possibly_damaging(0.528) 11/11 PDB-ENSP_mappings:5egb.A,PDB-ENSP_mappings:5eh2.E,PDB-ENSP_mappings:5eh2.F,PDB-ENSP_mappings:5ei9.E,PDB-ENSP_mappings:5ei9.F,PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 20041164 MODERATE 1 SNV 1 0,1 PASS GCA . . 1.292e-05 3.177e-05 1.885e-05 23527278 ZNF777 . GRCh38 chr7 149455679 149455679 + Missense_Mutation SNP A G G rs3735319 7316-388 BS_872YDFKD A A c.344T>C p.Val115Ala p.V115A ENST00000247930 2/6 48 6 36 28 21 4 ZNF777,missense_variant,p.Val115Ala,ENST00000247930,NM_015694.2; G ENSG00000196453 ENST00000247930 Transcript missense_variant 668/3233 344/2496 115/831 V/A gTc/gCc rs3735319,COSM4417220,COSM3762472 1 -1 ZNF777 HGNC HGNC:22213 protein_coding YES CCDS43675.1 ENSP00000247930 Q9ULD5 UPI0000E9B152 NM_015694.2 tolerated_low_confidence(0.28) benign(0.006) 2/6 mobidb-lite,hmmpanther:PTHR44987 0.6611 0.5522 0.6499 0.8165 0.5646 0.7556 0.5676 0.57 0,1,1 26604137 MODERATE 1 SNV 1 0,1,1 PASS GAC . . 0.6096 0.5644 0.6858 0.6116 0.8278 0.4915 0.5623 0.5901 0.6972 149455679 ADAM9 . GRCh38 chr8 39082638 39082638 + Splice_Region SNP C C T rs200072459 7316-388 BS_872YDFKD C C c.1882-3C>T ENST00000487273 85 71 8 49 46 0 ADAM9,splice_region_variant,,ENST00000487273,NM_003816.2;ADAM9,splice_region_variant,,ENST00000484143,;ADAM9,splice_region_variant,,ENST00000379917,;ADAM9,splice_region_variant,,ENST00000481873,;ADAM9,intron_variant,,ENST00000468065,; T ENSG00000168615 ENST00000487273 Transcript splice_region_variant,intron_variant rs200072459,COSM6200423 1 1 ADAM9 HGNC HGNC:216 protein_coding YES CCDS6112.1 ENSP00000419446 Q13443 UPI0000048D87 NM_003816.2 16/21 0.0010 0.0023 0.001 0.001 0,1 LOW 1 SNV 1 0,1 1 PASS TCA . . 7.045e-05 7.159e-05 0.0001115 0.0001149 7.085e-05 0.0002467 4.015e-05 39082638 CAMSAP1 . GRCh38 chr9 135823953 135823954 + Frame_Shift_Ins INS - - T rs201838505 7316-388 BS_872YDFKD - - c.1396dup p.Thr466AsnfsTer19 p.T466Nfs*19 ENST00000389532 10/17 80 70 5 31 31 0 CAMSAP1,frameshift_variant,p.Thr466AsnfsTer19,ENST00000389532,NM_015447.3;CAMSAP1,frameshift_variant,p.Thr188AsnfsTer19,ENST00000312405,;CAMSAP1,frameshift_variant,p.Thr477AsnfsTer19,ENST00000409386,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000483991,;CAMSAP1,upstream_gene_variant,,ENST00000493088,; T ENSG00000130559 ENST00000389532 Transcript frameshift_variant 1461-1462/7696 1396-1397/4809 466/1602 T/NX acc/aAcc rs201838505,TMP_ESP_9_138715800_138715800 1 -1 CAMSAP1 HGNC HGNC:19946 protein_coding YES CCDS35176.2 ENSP00000374183 Q5T5Y3 UPI0000EDA283 NM_015447.3 10/17 mobidb-lite,hmmpanther:PTHR21595:SF3,hmmpanther:PTHR21595 0.02346 0.02731 HIGH 1 insertion 5 PASS GGT . . 0.003809 0.004946 0.003207 0.000535 0.006059 0.00215 0.004831 0.002636 0.00218 135823953 PARP4 . GRCh38 chr13 24447185 24447185 + Missense_Mutation SNP A A G rs73172125 7316-388 BS_872YDFKD A A c.3116T>C p.Ile1039Thr p.I1039T ENST00000381989 26/34 49 40 8 43 43 0 PARP4,missense_variant,p.Ile1039Thr,ENST00000381989,NM_006437.3;PARP4,downstream_gene_variant,,ENST00000484989,;TPTE2P6,intron_variant,,ENST00000445572,; G ENSG00000102699 ENST00000381989 Transcript missense_variant,splice_region_variant 3222/5474 3116/5175 1039/1724 I/T aTa/aCa rs73172125,COSM147647 1 -1 PARP4 HGNC HGNC:271 protein_coding YES CCDS9307.1 ENSP00000371419 Q9UKK3 UPI000013C76E NM_006437.3 deleterious(0.02) possibly_damaging(0.657) 26/34 PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF127,Gene3D:3.40.50.410,Superfamily_domains:SSF53300 0,1 MODERATE 1 SNV 1 0,1 PASS TAT . . 0.2598 0.07651 0.2766 0.1687 0.2687 0.3709 0.2943 0.2361 0.1711 24447185 ADPRHL1 . GRCh38 chr13 113404036 113404036 + Missense_Mutation SNP T T C rs948102107 7316-388 BS_872YDFKD T T c.5246A>G p.Gln1749Arg p.Q1749R ENST00000612156 8/8 89 69 15 37 34 0 ADPRHL1,missense_variant,p.Gln1749Arg,ENST00000612156,; C ENSG00000153531 ENST00000612156 Transcript missense_variant 5333/9759 5246/5904 1749/1967 Q/R cAg/cGg rs948102107 1 -1 ADPRHL1 HGNC HGNC:21303 protein_coding ENSP00000489048 A0A0U1RQK4 UPI000719A14C tolerated_low_confidence(1) unknown(0) 8/8 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS CTG . . 113404036 DAAM1 . GRCh38 chr14 59368744 59368744 + Missense_Mutation SNP G G A rs759867723 7316-388 BS_872YDFKD G G c.3122G>A p.Arg1041His p.R1041H ENST00000395125 25/25 44 19 24 48 48 0 DAAM1,missense_variant,p.Arg1041His,ENST00000395125,NM_014992.2;DAAM1,missense_variant,p.Arg1031His,ENST00000360909,NM_001270520.1;DAAM1,non_coding_transcript_exon_variant,,ENST00000553966,;DAAM1,downstream_gene_variant,,ENST00000557029,;DAAM1,non_coding_transcript_exon_variant,,ENST00000555651,;DAAM1,non_coding_transcript_exon_variant,,ENST00000553307,;DAAM1,downstream_gene_variant,,ENST00000553472,;DAAM1,downstream_gene_variant,,ENST00000557628,; A ENSG00000100592 ENST00000395125 Transcript missense_variant 3145/5806 3122/3237 1041/1078 R/H cGc/cAc rs759867723,COSM5054013 1 1 DAAM1 HGNC HGNC:18142 protein_coding YES CCDS9737.1 ENSP00000378557 Q9Y4D1 UPI0000161FAA NM_014992.2 deleterious(0) probably_damaging(0.995) 25/25 PROSITE_profiles:PS51231,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF181,SMART_domains:SM00498 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 3.659e-05 0.0001016 7.173e-05 59368744 CLMN . GRCh38 chr14 95203613 95203613 + Missense_Mutation SNP G G T novel 7316-388 BS_872YDFKD G G c.1736C>A p.Ala579Asp p.A579D ENST00000298912 9/13 62 57 5 47 46 0 CLMN,missense_variant,p.Ala579Asp,ENST00000298912,NM_024734.3;CLMN,non_coding_transcript_exon_variant,,ENST00000556454,;AL117187.1,downstream_gene_variant,,ENST00000555482,; T ENSG00000165959 ENST00000298912 Transcript missense_variant 1850/12747 1736/3009 579/1002 A/D gCt/gAt 1 -1 CLMN HGNC HGNC:19972 protein_coding YES CCDS9933.1 ENSP00000298912 Q96JQ2 UPI000006DB99 NM_024734.3 deleterious_low_confidence(0) possibly_damaging(0.598) 9/13 hmmpanther:PTHR45317 MODERATE 1 SNV 1 PASS AGC . . 95203613 TP53 . GRCh38 chr17 7674221 7674221 + Missense_Mutation SNP G A A rs121912651 7316-388 BS_872YDFKD G G c.742C>T p.Arg248Trp p.R248W ENST00000269305 7/11 40 9 31 33 33 0 TP53,missense_variant,p.Arg248Trp,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg248Trp,ENST00000420246,;TP53,missense_variant,p.Arg209Trp,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg209Trp,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg248Trp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg209Trp,ENST00000610538,;TP53,missense_variant,p.Arg248Trp,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,missense_variant,p.Arg209Trp,ENST00000620739,;TP53,missense_variant,p.Arg248Trp,ENST00000445888,;TP53,missense_variant,p.Arg209Trp,ENST00000619485,;TP53,missense_variant,p.Arg116Trp,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,missense_variant,p.Arg89Trp,ENST00000618944,;TP53,missense_variant,p.Arg116Trp,ENST00000504290,;TP53,missense_variant,p.Arg89Trp,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,missense_variant,p.Arg116Trp,ENST00000504937,;TP53,missense_variant,p.Arg89Trp,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,missense_variant,p.Arg248Trp,ENST00000359597,;TP53,missense_variant,p.Arg237Trp,ENST00000615910,;TP53,missense_variant,p.Arg248Trp,ENST00000413465,;TP53,missense_variant,p.Arg116Trp,ENST00000509690,;TP53,missense_variant,p.Arg155Trp,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg209Trp,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,; A ENSG00000141510 ENST00000269305 Transcript missense_variant 932/2579 742/1182 248/393 R/W Cgg/Tgg rs121912651,CM010465,CM900211,COSM6955539,COSM6955538,COSM6955537,COSM6955536,COSM6955535,COSM45116,COSM44920,COSM4271789,COSM3388183,COSM2744594,COSM1640831,COSM120007,COSM120006,COSM120005,COSM1189383,COSM1189382,COSM1189381,COSM11564,COSM10656 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 deleterious(0) probably_damaging(1) 7/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 likely_pathogenic,pathogenic 0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 24033266,17606709,1631137,1978757,8099841,8425176,8527048,9598730,9825943,17427234 MODERATE 1 SNV 1 1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS CGG . . 4.061e-06 8.952e-06 7674221 SLC16A3 . GRCh38 chr17 82236732 82236732 + Missense_Mutation SNP C C T rs202146498 7316-388 BS_872YDFKD C C c.227C>T p.Pro76Leu p.P76L ENST00000581287 2/4 101 58 39 35 34 0 SLC16A3,missense_variant,p.Pro76Leu,ENST00000581287,;SLC16A3,missense_variant,p.Pro76Leu,ENST00000392341,NM_001042422.2,NM_001206950.1;SLC16A3,missense_variant,p.Pro76Leu,ENST00000392339,NM_001042423.2;SLC16A3,missense_variant,p.Pro76Leu,ENST00000617373,NM_001206951.1;SLC16A3,missense_variant,p.Pro76Leu,ENST00000619321,NM_001206952.1;SLC16A3,missense_variant,p.Pro76Leu,ENST00000582743,NM_004207.3;SLC16A3,missense_variant,p.Pro76Leu,ENST00000584689,;SLC16A3,missense_variant,p.Pro76Leu,ENST00000580189,;SLC16A3,missense_variant,p.Pro76Leu,ENST00000580098,;SLC16A3,missense_variant,p.Pro76Leu,ENST00000583237,;SLC16A3,missense_variant,p.Pro76Leu,ENST00000582946,;SLC16A3,missense_variant,p.Pro50Leu,ENST00000577650,;SLC16A3,missense_variant,p.Pro76Leu,ENST00000578522,;SLC16A3,intron_variant,,ENST00000578684,;SLC16A3,intron_variant,,ENST00000582715,;CSNK1D,downstream_gene_variant,,ENST00000398519,;SLC16A3,upstream_gene_variant,,ENST00000583025,;MIR6787,downstream_gene_variant,,ENST00000616675,;SLC16A3,non_coding_transcript_exon_variant,,ENST00000584781,;SLC16A3,non_coding_transcript_exon_variant,,ENST00000578574,;SLC16A3,non_coding_transcript_exon_variant,,ENST00000579572,;SLC16A3,non_coding_transcript_exon_variant,,ENST00000578810,;SLC16A3,downstream_gene_variant,,ENST00000581642,;SLC16A3,downstream_gene_variant,,ENST00000583444,;CSNK1D,downstream_gene_variant,,ENST00000584672,;,regulatory_region_variant,,ENSR00000099556,;,TF_binding_site_variant,,MA0139.1,; T ENSG00000141526 ENST00000581287 Transcript missense_variant 2549/4830 227/1398 76/465 P/L cCg/cTg rs202146498,COSM6453771 1 1 SLC16A3 HGNC HGNC:10924 protein_coding YES CCDS11804.1 ENSP00000463978 O15427 A0A024R8U1 UPI000012F3CC deleterious(0) probably_damaging(1) 2/4 Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF27,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00892,Transmembrane_helices:TMhelix,cd06174 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 2.547e-05 6.586e-05 0.0001655 1.893e-05 82236732 AP005230.1 . GRCh38 chr18 2047345 2047345 + Splice_Region DEL A A - rs949804731 7316-388 BS_872YDFKD A A n.620-5del ENST00000639316 45 37 5 67 63 0 AP005230.1,splice_region_variant,,ENST00000639316,;AP005230.1,intron_variant,,ENST00000579097,;AP005230.1,intron_variant,,ENST00000582086,;AP005230.1,intron_variant,,ENST00000584867,; - ENSG00000263745 ENST00000639316 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs949804731 1 -1 AP005230.1 Clone_based_ensembl_gene lincRNA YES 4/4 LOW 1 deletion 5 PASS GGAA . . 2047344 TYK2 . GRCh38 chr19 10365741 10365741 + Missense_Mutation SNP G G A novel 7316-388 BS_872YDFKD G G c.787C>T p.Leu263Phe p.L263F ENST00000525621 7/25 70 64 5 30 30 0 TYK2,missense_variant,p.Leu263Phe,ENST00000525621,NM_003331.4;TYK2,missense_variant,p.Leu263Phe,ENST00000264818,;TYK2,missense_variant,p.Leu78Phe,ENST00000524462,;TYK2,missense_variant,p.Leu263Phe,ENST00000529370,;TYK2,missense_variant,p.Leu42Phe,ENST00000525220,;TYK2,downstream_gene_variant,,ENST00000530829,;TYK2,downstream_gene_variant,,ENST00000531836,;TYK2,downstream_gene_variant,,ENST00000525824,;TYK2,downstream_gene_variant,,ENST00000529317,;TYK2,upstream_gene_variant,,ENST00000531620,;TYK2,upstream_gene_variant,,ENST00000533334,; A ENSG00000105397 ENST00000525621 Transcript missense_variant 1269/4347 787/3564 263/1187 L/F Ctc/Ttc 1 -1 TYK2 HGNC HGNC:12440 protein_coding YES CCDS12236.1 ENSP00000431885 P29597 A0A024R7E4 UPI000013D573 NM_003331.4 deleterious(0) probably_damaging(0.98) 7/25 Gene3D:1.20.80.10,PDB-ENSP_mappings:4po6.A,PIRSF_domain:PIRSF000636,PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF244,SMART_domains:SM00295,Superfamily_domains:SSF47031 MODERATE 1 SNV 1 1 PASS AGT . . 10365741 ZNF347 . GRCh38 chr19 53141063 53141063 + Missense_Mutation SNP C C T rs746706460 7316-388 BS_872YDFKD C C c.1768G>A p.Gly590Arg p.G590R ENST00000452676 5/5 47 40 6 44 43 1 ZNF347,missense_variant,p.Gly589Arg,ENST00000334197,NM_032584.2;ZNF347,missense_variant,p.Gly590Arg,ENST00000452676,NM_001172674.1;ZNF347,missense_variant,p.Gly590Arg,ENST00000601469,NM_001172675.1;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000595967,;ZNF347,downstream_gene_variant,,ENST00000597183,; T ENSG00000197937 ENST00000452676 Transcript missense_variant 2195/4553 1768/2523 590/840 G/R Gga/Aga rs746706460 1 -1 ZNF347 HGNC HGNC:16447 protein_coding YES CCDS54314.1 ENSP00000405218 Q96SE7 A0A024R4L7 UPI000059D78C NM_001172674.1 tolerated(1) benign(0.006) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF625,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CCC . . 8.549e-06 1.834e-05 53141063 HELZ2 . GRCh38 chr20 63559305 63559305 + Missense_Mutation SNP G G C novel 7316-388 BS_872YDFKD G G c.7891C>G p.Gln2631Glu p.Q2631E ENST00000467148 19/19 108 82 24 24 22 0 HELZ2,missense_variant,p.Gln2631Glu,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Gln2062Glu,ENST00000427522,NM_033405.3;FNDC11,downstream_gene_variant,,ENST00000370097,NM_001319152.1;FNDC11,downstream_gene_variant,,ENST00000370098,NM_024059.3;FNDC11,downstream_gene_variant,,ENST00000611891,;FNDC11,downstream_gene_variant,,ENST00000615526,NM_001319153.1;HELZ2,intron_variant,,ENST00000478861,;,regulatory_region_variant,,ENSR00000139922,; C ENSG00000130589 ENST00000467148 Transcript missense_variant 7961/8064 7891/7950 2631/2649 Q/E Cag/Gag 1 -1 HELZ2 HGNC HGNC:30021 protein_coding YES CCDS33508.1 ENSP00000417401 Q9BYK8 UPI0000246BF7 NM_001037335.2 tolerated(0.57) benign(0.006) 19/19 hmmpanther:PTHR10887:SF428,hmmpanther:PTHR10887 MODERATE 1 SNV 1 PASS TGC . . 63559305 PSMG1 . GRCh38 chr21 39183307 39183309 + In_Frame_Del DEL CCT CCT - rs768884469 7316-388 BS_872YDFKD CCT CCT c.77_79del p.Glu26del p.E26del ENST00000331573 1/7 78 69 5 37 34 0 PSMG1,inframe_deletion,p.Glu26del,ENST00000331573,NM_001320795.1,NM_001261824.1,NM_003720.3;PSMG1,inframe_deletion,p.Glu26del,ENST00000380900,NM_203433.2;BRWD1,downstream_gene_variant,,ENST00000333229,NM_018963.4;AF129408.1,upstream_gene_variant,,ENST00000608767,;PSMG1,inframe_deletion,p.Glu26del,ENST00000431628,;PSMG1,upstream_gene_variant,,ENST00000411828,;BRWD1,downstream_gene_variant,,ENST00000446924,;PSMG1,upstream_gene_variant,,ENST00000481921,;,regulatory_region_variant,,ENSR00000142463,;,TF_binding_site_variant,,MA0079.3,; - ENSG00000183527 ENST00000331573 Transcript inframe_deletion 543-545/2154 77-79/867 26-27/288 EG/G gAGGgg/ggg rs768884469,COSM5018163 1 -1 PSMG1 HGNC HGNC:3043 protein_coding YES CCDS13660.1 ENSP00000329915 O95456 UPI000012990A NM_001320795.1,NM_001261824.1,NM_003720.3 1/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15069,PIRSF_domain:PIRSF010076,Pfam_domain:PF16094 0.02335 0.03204 0,1 MODERATE 1 deletion 1 0,1 PASS CCCCTC . . 0.002855 0.005153 0.002347 0.002115 0.004933 0.002268 0.003105 0.001766 0.001609 39183306 CLCN5 . GRCh38 chrX 50090241 50090241 + Missense_Mutation SNP C C T 7316-388 BS_872YDFKD C C c.1870C>T p.Arg624Trp p.R624W ENST00000376088 13/15 77 43 34 41 41 0 CLCN5,missense_variant,p.Arg624Trp,ENST00000376088,NM_001127898.3,NM_001127899.3;CLCN5,missense_variant,p.Arg554Trp,ENST00000307367,NM_001282163.1;CLCN5,missense_variant,p.Arg624Trp,ENST00000376091,;CLCN5,missense_variant,p.Arg554Trp,ENST00000642885,;CLCN5,missense_variant,p.Arg554Trp,ENST00000376108,NM_000084.4;CLCN5,missense_variant,p.Arg398Trp,ENST00000642383,;CLCN5,3_prime_UTR_variant,,ENST00000646398,;CLCN5,3_prime_UTR_variant,,ENST00000643129,; T ENSG00000171365 ENST00000376088 Transcript missense_variant 2511/10108 1870/2451 624/816 R/W Cgg/Tgg COSM1155407,COSM1122550 1 1 CLCN5 HGNC HGNC:2023 protein_coding YES CCDS48115.1 ENSP00000365256 P51795 UPI0000212052 NM_001127898.3,NM_001127899.3 deleterious(0) probably_damaging(0.928) 13/15 Gene3D:1.10.3080.10,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF63,Superfamily_domains:SSF81340,cd03684 1,1 MODERATE 1 SNV 2 1,1 1 PASS GCG . . 50090241 ZXDB . GRCh38 chrX 57592437 57592437 + Missense_Mutation SNP G G A rs189164178 7316-388 BS_872YDFKD G G c.389G>A p.Gly130Asp p.G130D ENST00000374888 1/1 93 79 14 55 51 0 ZXDB,missense_variant,p.Gly130Asp,ENST00000374888,NM_007157.3;,regulatory_region_variant,,ENSR00000246815,; A ENSG00000198455 ENST00000374888 Transcript missense_variant 786/5894 389/2412 130/803 G/D gGc/gAc rs189164178,COSM4156952 1 1 ZXDB HGNC HGNC:13199 protein_coding YES CCDS35313.1 ENSP00000364023 P98169 UPI000013C495 NM_007157.3 tolerated_low_confidence(0.65) benign(0.001) 1/1 hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF85,mobidb-lite 0,1 MODERATE 1 SNV 0,1 PASS GGC . . 0.1656 0.05562 0.3469 0.1667 0.2103 0.07263 0.09397 0.2067 0.138 57592437 HMGN5 . GRCh38 chrX 81114913 81114913 + Missense_Mutation SNP A A T novel 7316-388 BS_872YDFKD A A c.585T>A p.Asp195Glu p.D195E ENST00000358130 7/7 94 81 7 54 52 0 HMGN5,missense_variant,p.Asp195Glu,ENST00000358130,NM_030763.2;HMGN5,missense_variant,p.Asp175Glu,ENST00000447319,;HMGN5,downstream_gene_variant,,ENST00000373250,;HMGN5,downstream_gene_variant,,ENST00000430960,;HMGN5,downstream_gene_variant,,ENST00000436386,;HMGN5,downstream_gene_variant,,ENST00000451455,;HMGN5,downstream_gene_variant,,ENST00000491275,; T ENSG00000198157 ENST00000358130 Transcript missense_variant 914/2126 585/849 195/282 D/E gaT/gaA 1 -1 HMGN5 HGNC HGNC:8013 protein_coding YES CCDS14448.1 ENSP00000350848 P82970 UPI0000130542 NM_030763.2 tolerated(0.12) benign(0.003) 7/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23087 MODERATE 1 SNV 2 PASS CAT . . 81114913 MAGEC1 . GRCh38 chrX 141906120 141906120 + Missense_Mutation SNP C C G rs146816736 7316-388 BS_872YDFKD C C c.716C>G p.Pro239Arg p.P239R ENST00000285879 4/4 70 48 13 31 28 0 MAGEC1,missense_variant,p.Pro239Arg,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; G ENSG00000155495 ENST00000285879 Transcript missense_variant 1002/4270 716/3429 239/1142 P/R cCc/cGc rs146816736,COSM5451037 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(0.11) benign(0) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,Low_complexity_(Seg):seg 0.0334 0.0259 0.0095 0.0131 0.0183 0.0989 0,1 MODERATE 1 SNV 1 0,1 PASS CCC . . 0.002449 0.001567 0.0005529 0.0005617 0.00182 0.001209 0.001968 0.002201 0.01114 141906120 KHDC4 . GRCh38 chr1 155921618 155921618 + Missense_Mutation SNP T T G novel 7316-445 BS_XHT3F34T T T c.1023A>C p.Gln341His p.Q341H ENST00000368321 10/14 86 77 8 48 47 0 KHDC4,missense_variant,p.Gln341His,ENST00000368320,;KHDC4,missense_variant,p.Gln341His,ENST00000368321,NM_014949.3;KHDC4,intron_variant,,ENST00000368319,;SNORA80E,upstream_gene_variant,,ENST00000384744,;SCARNA4,downstream_gene_variant,,ENST00000625402,;SCARNA4,downstream_gene_variant,,ENST00000629045,;KHDC4,non_coding_transcript_exon_variant,,ENST00000478002,;KHDC4,intron_variant,,ENST00000482337,;KHDC4,intron_variant,,ENST00000483237,;KHDC4,upstream_gene_variant,,ENST00000465953,;KHDC4,upstream_gene_variant,,ENST00000466520,;KHDC4,downstream_gene_variant,,ENST00000466713,; G ENSG00000132680 ENST00000368321 Transcript missense_variant 1047/2947 1023/1845 341/614 Q/H caA/caC 1 -1 KHDC4 HGNC HGNC:29145 protein_coding YES CCDS30885.1 ENSP00000357304 Q7Z7F0 UPI00001A36E0 NM_014949.3 tolerated(0.05) benign(0.028) 10/14 hmmpanther:PTHR15744 MODERATE 1 SNV 1 PASS GTT . . 155921618 CENPF . GRCh38 chr1 214620697 214620697 + Missense_Mutation SNP G G A rs376653860 7316-445 BS_XHT3F34T G G c.616G>A p.Asp206Asn p.D206N ENST00000366955 6/20 80 73 7 46 46 0 CENPF,missense_variant,p.Asp206Asn,ENST00000366955,NM_016343.3; A ENSG00000117724 ENST00000366955 Transcript missense_variant 784/10307 616/9345 206/3114 D/N Gac/Aac rs376653860,COSM3418728 1 1 CENPF HGNC HGNC:1857 protein_coding YES CCDS31023.1 ENSP00000355922 P49454 UPI00001AE985 NM_016343.3 deleterious(0) possibly_damaging(0.856) 6/20 Pfam_domain:PF10481,hmmpanther:PTHR18874 0.000227 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGA . . 2.032e-05 0.0001961 1.793e-05 214620697 IGKV2-24 . GRCh38 chr2 89176434 89176434 + Missense_Mutation SNP T T C rs369465723 7316-445 BS_XHT3F34T T T c.254A>G p.Asp85Gly p.D85G ENST00000484817 2/2 73 64 8 54 53 0 IGKV2-24,missense_variant,p.Asp85Gly,ENST00000484817,;IGKV2-23,upstream_gene_variant,,ENST00000518729,; C ENSG00000241294 ENST00000484817 Transcript missense_variant 284/390 254/360 85/120 D/G gAc/gGc rs369465723 1 -1 IGKV2-24 HGNC HGNC:5781 IG_V_gene YES ENSP00000419300 A0A0C4DH68 UPI0000115DCF deleterious(0.02) possibly_damaging(0.609) 2/2 0.0002451 MODERATE 1 SNV PASS GTC . . 7.82e-05 0.0001565 0.0003676 89176434 ANKRD36 . GRCh38 chr2 97154741 97154741 + Splice_Region SNP G G A rs79756591 7316-445 BS_XHT3F34T G G c.1260G>A p.Glu420= p.E420= ENST00000420699 15/76 37 31 6 29 29 0 ANKRD36,splice_region_variant,p.Glu420=,ENST00000420699,NM_001164315.1;ANKRD36,splice_region_variant,p.Glu420=,ENST00000461153,;ANKRD36,intron_variant,,ENST00000620383,;ANKRD36,intron_variant,,ENST00000639293,; A ENSG00000135976 ENST00000420699 Transcript splice_region_variant,synonymous_variant 1504/6269 1260/5826 420/1941 E gaG/gaA rs79756591,COSM1632175,COSM1632174 1 1 ANKRD36 HGNC HGNC:24079 protein_coding YES CCDS54379.1 ENSP00000391950 A6QL64 UPI0001B23BB4 NM_001164315.1 15/76 hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176 0,1,1 LOW 1 SNV 5 0,1,1 PASS AGG . . 0.04402 0.05289 0.02646 0.02925 0.02173 0.1626 0.05529 0.03545 0.02114 97154741 FASTKD1 . GRCh38 chr2 169557305 169557305 + Splice_Region SNP C C A rs77502792 7316-445 BS_XHT3F34T C C c.972-8G>T ENST00000453153 63 52 9 51 47 2 FASTKD1,splice_region_variant,,ENST00000453153,NM_001322048.1,NM_024622.5,NM_001322046.1;FASTKD1,splice_region_variant,,ENST00000453929,NM_001322049.1,NM_001281476.2;FASTKD1,downstream_gene_variant,,ENST00000417376,;FASTKD1,downstream_gene_variant,,ENST00000438035,;FASTKD1,downstream_gene_variant,,ENST00000445210,;FASTKD1,downstream_gene_variant,,ENST00000487293,; A ENSG00000138399 ENST00000453153 Transcript splice_region_variant,intron_variant rs77502792 1 -1 FASTKD1 HGNC HGNC:26150 protein_coding YES CCDS33318.1 ENSP00000400513 Q53R41 UPI000050BC4D NM_001322048.1,NM_024622.5,NM_001322046.1 5/14 LOW 1 SNV 1 PASS GCA . . 0.00177 0.0003503 0.005079 0.00148 0.006694 0.0003494 0.001248 0.001951 0.001834 169557305 TTN . GRCh38 chr2 178581991 178581991 + Nonsense_Mutation SNP A A T novel 7316-445 BS_XHT3F34T A A c.66378T>A p.Tyr22126Ter p.Y22126* ENST00000589042 315/363 78 70 6 40 40 0 TTN,stop_gained,p.Tyr22126Ter,ENST00000589042,NM_001267550.2;TTN,stop_gained,p.Tyr20485Ter,ENST00000591111,;TTN,stop_gained,p.Tyr20485Ter,ENST00000615779,NM_001256850.1;TTN,stop_gained,p.Tyr19558Ter,ENST00000342992,NM_133378.4;TTN,stop_gained,p.Tyr13061Ter,ENST00000460472,NM_003319.4;TTN,stop_gained,p.Tyr13253Ter,ENST00000342175,NM_133437.4;TTN,stop_gained,p.Tyr13186Ter,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;AC010680.2,downstream_gene_variant,,ENST00000603521,;AC010680.3,downstream_gene_variant,,ENST00000604215,;TTN-AS1,upstream_gene_variant,,ENST00000626517,;TTN-AS1,upstream_gene_variant,,ENST00000629117,; T ENSG00000155657 ENST00000589042 Transcript stop_gained 66603/109224 66378/107976 22126/35991 Y/* taT/taA 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 315/363 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 HIGH SNV 5 1 PASS CAT . . 178581991 TTN . GRCh38 chr2 178582164 178582164 + Missense_Mutation SNP T T C novel 7316-445 BS_XHT3F34T T T c.66205A>G p.Lys22069Glu p.K22069E ENST00000589042 315/363 78 70 8 48 48 0 TTN,missense_variant,p.Lys22069Glu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Lys20428Glu,ENST00000591111,;TTN,missense_variant,p.Lys20428Glu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Lys19501Glu,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Lys13004Glu,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Lys13196Glu,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Lys13129Glu,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;AC010680.2,downstream_gene_variant,,ENST00000603521,;AC010680.3,downstream_gene_variant,,ENST00000604215,;TTN-AS1,upstream_gene_variant,,ENST00000626517,;TTN-AS1,upstream_gene_variant,,ENST00000629117,; C ENSG00000155657 ENST00000589042 Transcript missense_variant 66430/109224 66205/107976 22069/35991 K/E Aaa/Gaa 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 benign(0.254) 315/363 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 MODERATE SNV 5 1 PASS TTG . . 178582164 CHL1 . GRCh38 chr3 360353 360353 + Missense_Mutation SNP C C T novel 7316-445 BS_XHT3F34T C C c.1235C>T p.Thr412Ile p.T412I ENST00000256509 12/28 96 89 6 31 31 0 CHL1,missense_variant,p.Thr412Ile,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Thr412Ile,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Thr396Ile,ENST00000397491,NM_001253387.1;CHL1-AS1,downstream_gene_variant,,ENST00000417612,;CHL1-AS1,downstream_gene_variant,,ENST00000608098,;CHL1,upstream_gene_variant,,ENST00000471332,;CHL1,3_prime_UTR_variant,,ENST00000453040,; T ENSG00000134121 ENST00000256509 Transcript missense_variant 1877/8023 1235/3675 412/1224 T/I aCt/aTt 1 1 CHL1 HGNC HGNC:1939 protein_coding YES CCDS2556.1 ENSP00000256509 O00533 UPI000013CF0F NM_006614.3 deleterious(0) probably_damaging(0.953) 12/28 cd04978,hmmpanther:PTHR43951,hmmpanther:PTHR43951:SF6,Gene3D:2.60.40.10,Pfam_domain:PF13927,Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,PROSITE_profiles:PS50835 MODERATE 1 SNV 1 PASS ACT . . 360353 CHL1 . GRCh38 chr3 365991 365991 + Missense_Mutation SNP C C G 7316-445 BS_XHT3F34T C C c.1627C>G p.Pro543Ala p.P543A ENST00000256509 15/28 85 73 10 46 46 0 CHL1,missense_variant,p.Pro543Ala,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Pro543Ala,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Pro527Ala,ENST00000397491,NM_001253387.1;CHL1-AS1,intron_variant,,ENST00000417612,;CHL1-AS1,intron_variant,,ENST00000608098,;CHL1,downstream_gene_variant,,ENST00000471332,;CHL1,3_prime_UTR_variant,,ENST00000453040,; G ENSG00000134121 ENST00000256509 Transcript missense_variant 2269/8023 1627/3675 543/1224 P/A Ccc/Gcc COSM6384653,COSM5896691 1 1 CHL1 HGNC HGNC:1939 protein_coding YES CCDS2556.1 ENSP00000256509 O00533 UPI000013CF0F NM_006614.3 tolerated(0.75) benign(0.043) 15/28 hmmpanther:PTHR43951,hmmpanther:PTHR43951:SF6,Gene3D:2.60.40.10,Pfam_domain:PF00047,Superfamily_domains:SSF48726,SMART_domains:SM00409,PROSITE_profiles:PS50835 1,1 MODERATE 1 SNV 1 1,1 PASS CCC . . 365991 SLMAP . GRCh38 chr3 57864860 57864860 + Splice_Region SNP A A T novel 7316-445 BS_XHT3F34T A A c.1186+3A>T ENST00000428312 95 73 13 54 53 0 SLMAP,splice_region_variant,,ENST00000383718,;SLMAP,splice_region_variant,,ENST00000428312,NM_001304420.2;SLMAP,intron_variant,,ENST00000295951,;SLMAP,intron_variant,,ENST00000295952,NM_007159.4;SLMAP,intron_variant,,ENST00000416658,;SLMAP,intron_variant,,ENST00000449503,NM_001304421.2;SLMAP,intron_variant,,ENST00000465203,;SLMAP,intron_variant,,ENST00000475055,;SLMAP,splice_region_variant,,ENST00000467901,; T ENSG00000163681 ENST00000428312 Transcript splice_region_variant,intron_variant 1 1 SLMAP HGNC HGNC:16643 protein_coding YES CCDS77757.1 ENSP00000398661 Q14BN4 UPI00005796CD NM_001304420.2 11/21 LOW 1 SNV 1 1 PASS TAG . . 57864860 LIPH . GRCh38 chr3 185517144 185517144 + Missense_Mutation SNP C C G 7316-445 BS_XHT3F34T C C c.905G>C p.Trp302Ser p.W302S ENST00000296252 7/10 78 68 8 54 53 0 LIPH,missense_variant,p.Trp302Ser,ENST00000296252,NM_139248.2;LIPH,missense_variant,p.Trp268Ser,ENST00000424591,;LIPH,upstream_gene_variant,,ENST00000435679,;LIPH,downstream_gene_variant,,ENST00000452897,; G ENSG00000163898 ENST00000296252 Transcript missense_variant 1047/4026 905/1356 302/451 W/S tGg/tCg COSM4561963 1 -1 LIPH HGNC HGNC:18483 protein_coding YES CCDS3272.1 ENSP00000296252 Q8WWY8 UPI000003AEB8 NM_139248.2 deleterious(0) probably_damaging(0.976) 7/10 cd00707,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF12,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Pfam_domain:PF00151,Superfamily_domains:SSF53474 1 MODERATE 1 SNV 1 1 1 PASS CCA . . 185517144 FAM47E . GRCh38 chr4 76268708 76268708 + Missense_Mutation SNP A A C novel 7316-445 BS_XHT3F34T A A c.609A>C p.Glu203Asp p.E203D ENST00000424749 4/8 79 73 6 45 45 0 FAM47E,missense_variant,p.Glu35Asp,ENST00000502320,;FAM47E-STBD1,missense_variant,p.Glu203Asp,ENST00000515604,NM_001242939.1;FAM47E-STBD1,missense_variant,p.Glu27Asp,ENST00000514140,;FAM47E,missense_variant,p.Glu90Asp,ENST00000510197,NM_001242936.1;FAM47E,missense_variant,p.Glu203Asp,ENST00000424749,NM_001136570.2;FAM47E,missense_variant,p.Glu35Asp,ENST00000510328,;FAM47E,missense_variant,p.Glu113Asp,ENST00000512895,;FAM47E,missense_variant,p.Glu87Asp,ENST00000606246,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000509377,;FAM47E,non_coding_transcript_exon_variant,,ENST00000606550,;FAM47E-STBD1,intron_variant,,ENST00000514365,; C ENSG00000189157 ENST00000424749 Transcript missense_variant 615/1484 609/1182 203/393 E/D gaA/gaC 1 1 FAM47E HGNC HGNC:34343 protein_coding YES CCDS47081.1 ENSP00000409423 Q6ZV65 UPI0000D4C4F5 NM_001136570.2 tolerated(0.15) possibly_damaging(0.52) 4/8 hmmpanther:PTHR11064,hmmpanther:PTHR11064:SF22 MODERATE SNV 5 PASS AAA . . 76268708 BMPR1B . GRCh38 chr4 95152739 95152739 + Missense_Mutation SNP G G C 7316-445 BS_XHT3F34T G G c.1439G>C p.Arg480Pro p.R480P ENST00000440890 10/11 64 59 5 53 53 0 BMPR1B,missense_variant,p.Arg450Pro,ENST00000515059,NM_001203.2;BMPR1B,missense_variant,p.Arg480Pro,ENST00000440890,NM_001256793.1;BMPR1B,missense_variant,p.Arg450Pro,ENST00000394931,;BMPR1B,missense_variant,p.Arg450Pro,ENST00000264568,NM_001256794.1;BMPR1B,missense_variant,p.Arg450Pro,ENST00000509540,;BMPR1B,missense_variant,p.Arg450Pro,ENST00000512312,NM_001256792.1; C ENSG00000138696 ENST00000440890 Transcript missense_variant 1460/5388 1439/1599 480/532 R/P cGc/cCc COSM5680829,COSM5680828,COSM5680827,COSM4343676,COSM2989092,COSM2989091 1 1 BMPR1B HGNC HGNC:1077 protein_coding YES CCDS58919.1 ENSP00000401907 O00238 UPI00017A7CB9 NM_001256793.1 deleterious(0) probably_damaging(1) 10/11 Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF62,SMART_domains:SM00220,Superfamily_domains:SSF56112,cd14219 1,1,1,1,1,1 MODERATE 1 SNV 2 1,1,1,1,1,1 1 PASS CGC . . 95152739 PTCD2 . GRCh38 chr5 72342956 72342956 + Splice_Region SNP T T G novel 7316-445 BS_XHT3F34T T T c.754-6T>G ENST00000380639 91 83 7 49 48 0 PTCD2,splice_region_variant,,ENST00000380639,NM_024754.4;PTCD2,splice_region_variant,,ENST00000503868,NM_001284403.1;PTCD2,splice_region_variant,,ENST00000510676,;PTCD2,splice_region_variant,,ENST00000536805,NM_001284404.1;PTCD2,splice_region_variant,,ENST00000543322,NM_001284405.1;PTCD2,splice_region_variant,,ENST00000460837,;PTCD2,splice_region_variant,,ENST00000493283,;PTCD2,splice_region_variant,,ENST00000308077,;PTCD2,splice_region_variant,,ENST00000486995,;PTCD2,splice_region_variant,,ENST00000503315,;PTCD2,splice_region_variant,,ENST00000515198,;PTCD2,downstream_gene_variant,,ENST00000511752,; G ENSG00000049883 ENST00000380639 Transcript splice_region_variant,intron_variant 1 1 PTCD2 HGNC HGNC:25734 protein_coding YES CCDS4014.2 ENSP00000370013 Q8WV60 A0A024RAM6 UPI000066D9F8 NM_024754.4 7/9 LOW 1 SNV 5 PASS CTT . . 72342956 VCAN . GRCh38 chr5 83521031 83521031 + Missense_Mutation SNP A A C novel 7316-445 BS_XHT3F34T A A c.2725A>C p.Ile909Leu p.I909L ENST00000265077 7/15 73 63 9 57 57 0 VCAN,missense_variant,p.Ile909Leu,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Ile909Leu,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Ile861Leu,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000515397,; C ENSG00000038427 ENST00000265077 Transcript missense_variant 3290/12625 2725/10191 909/3396 I/L Atc/Ctc 1 1 VCAN HGNC HGNC:2464 protein_coding YES CCDS4060.1 ENSP00000265077 P13611 A0A024RAQ9 UPI000013178B NM_004385.4 tolerated(0.58) benign(0) 7/15 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6 MODERATE 1 SNV 1 1 PASS TAT . . 83521031 FLT4 . GRCh38 chr5 180614175 180614175 + Missense_Mutation SNP C C T rs1400220848 7316-445 BS_XHT3F34T C C c.3224G>A p.Arg1075Gln p.R1075Q ENST00000261937 24/30 74 65 8 44 43 0 FLT4,missense_variant,p.Arg1075Gln,ENST00000261937,NM_182925.4;FLT4,missense_variant,p.Arg1075Gln,ENST00000393347,NM_002020.4;FLT4,missense_variant,p.Arg1075Gln,ENST00000502649,NM_001354989.1;FLT4,missense_variant,p.Arg113Gln,ENST00000512795,;FLT4,3_prime_UTR_variant,,ENST00000619105,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,non_coding_transcript_exon_variant,,ENST00000514810,;FLT4,upstream_gene_variant,,ENST00000502603,;FLT4,upstream_gene_variant,,ENST00000510000,; T ENSG00000037280 ENST00000261937 Transcript missense_variant 3303/5857 3224/4092 1075/1363 R/Q cGg/cAg rs1400220848,COSM5996445,COSM5996444 1 -1 FLT4 HGNC HGNC:3767 protein_coding YES CCDS4457.1 ENSP00000261937 P35916 UPI00001488E7 NM_182925.4 deleterious(0.01) probably_damaging(1) 24/30 cd05102,PIRSF_domain:PIRSF000615,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CCG . . 1.34e-05 0.0002103 180614175 UBE2V2 . GRCh38 chr8 48043120 48043120 + Missense_Mutation SNP T T G novel 7316-445 BS_XHT3F34T T T c.104T>G p.Leu35Arg p.L35R ENST00000523111 2/4 106 98 7 31 31 0 UBE2V2,missense_variant,p.Leu35Arg,ENST00000523111,NM_003350.2;UBE2V2,5_prime_UTR_variant,,ENST00000520809,;UBE2V2,5_prime_UTR_variant,,ENST00000521346,;UBE2V2,5_prime_UTR_variant,,ENST00000517630,;UBE2V2,intron_variant,,ENST00000523432,;UBE2V2,missense_variant,p.Leu40Arg,ENST00000518360,;UBE2V2,missense_variant,p.Leu30Arg,ENST00000520595,; G ENSG00000169139 ENST00000523111 Transcript missense_variant 159/4373 104/438 35/145 L/R cTt/cGt 1 1 UBE2V2 HGNC HGNC:12495 protein_coding YES CCDS43738.1 ENSP00000428209 Q15819 A0M8W4 UPI000006FD5B NM_003350.2 deleterious(0) possibly_damaging(0.888) 2/4 PDB-ENSP_mappings:1j74.A,PDB-ENSP_mappings:1j7d.A,PDB-ENSP_mappings:1zgu.A,Gene3D:3.10.110.10,PDB-ENSP_mappings:3von.B,PDB-ENSP_mappings:3von.D,PDB-ENSP_mappings:3von.F,PDB-ENSP_mappings:3von.I,PDB-ENSP_mappings:3von.K,PDB-ENSP_mappings:3von.M,PDB-ENSP_mappings:3von.P,PDB-ENSP_mappings:3von.R,PDB-ENSP_mappings:3von.T,PDB-ENSP_mappings:3von.W,PDB-ENSP_mappings:3von.Y,PDB-ENSP_mappings:3von.a,PDB-ENSP_mappings:3von.d,PDB-ENSP_mappings:3von.f,PDB-ENSP_mappings:3von.h,PDB-ENSP_mappings:3von.k,PDB-ENSP_mappings:3von.m,PDB-ENSP_mappings:3von.o,PDB-ENSP_mappings:4nr3.A,PDB-ENSP_mappings:4nrg.A,PDB-ENSP_mappings:4nri.A,PDB-ENSP_mappings:4onl.A,PDB-ENSP_mappings:4onm.A,PDB-ENSP_mappings:4onn.A,PDB-ENSP_mappings:4orh.A,PDB-ENSP_mappings:4orh.E,PDB-ENSP_mappings:4orh.I,PDB-ENSP_mappings:5ait.D,PDB-ENSP_mappings:5ait.G,Pfam_domain:PF00179,PROSITE_profiles:PS50127,hmmpanther:PTHR43915,hmmpanther:PTHR43915:SF3,SMART_domains:SM00212,Superfamily_domains:SSF54495 MODERATE 1 SNV 1 PASS CTT . . 48043120 SLCO5A1 . GRCh38 chr8 69755643 69755644 + Splice_Region INS - - A novel 7316-445 BS_XHT3F34T - - c.1041-3dup ENST00000260126 95 79 7 45 45 0 SLCO5A1,splice_region_variant,,ENST00000260126,NM_030958.2;SLCO5A1,splice_region_variant,,ENST00000524945,NM_001146008.1;SLCO5A1,splice_region_variant,,ENST00000530307,NM_001146009.1;SLCO5A1,splice_region_variant,,ENST00000532388,;SLCO5A1,intron_variant,,ENST00000526750,; A ENSG00000137571 ENST00000260126 Transcript splice_region_variant,intron_variant 1 -1 SLCO5A1 HGNC HGNC:19046 protein_coding YES CCDS6205.1 ENSP00000260126 Q9H2Y9 UPI0000140F53 NM_030958.2 3/9 LOW 1 insertion 1 PASS CTA . . 69755643 AL391117.1 . GRCh38 chr9 22741376 22741376 + Splice_Site SNP A A G novel 7316-445 BS_XHT3F34T A A n.960+2T>C ENST00000640003 91 83 5 37 37 0 AL391117.1,splice_donor_variant,,ENST00000640003,;LINC01239,intron_variant,,ENST00000436786,; G ENSG00000284418 ENST00000640003 Transcript splice_donor_variant,non_coding_transcript_variant 1 -1 AL391117.1 Clone_based_ensembl_gene lincRNA YES 9/9 HIGH SNV 5 PASS TAC . . 22741376 C10orf67 . GRCh38 chr10 23344578 23344579 + Frame_Shift_Ins INS - - CG novel 7316-445 BS_XHT3F34T - - c.198_199dup p.Gly67AlafsTer12 p.G67Afs*12 ENST00000323327 1/5 69 59 5 45 45 0 C10orf67,frameshift_variant,p.Gly67AlafsTer12,ENST00000636213,;C10orf67,frameshift_variant,p.Gly67AlafsTer12,ENST00000323327,NM_153714.2;C10orf67,upstream_gene_variant,,ENST00000376500,;AL606469.1,non_coding_transcript_exon_variant,,ENST00000443224,;C10orf67,frameshift_variant,p.Gly40AlafsTer12,ENST00000376501,;,regulatory_region_variant,,ENSR00000025567,; CG ENSG00000179133 ENST00000323327 Transcript frameshift_variant 267-268/2799 199-200/558 67/185 G/AX ggg/gCGgg 1 -1 C10orf67 HGNC HGNC:28716 protein_coding YES CCDS44365.1 ENSP00000321464 Q8IYJ2 UPI0000456365 NM_153714.2 1/5 hmmpanther:PTHR22382 HIGH 1 insertion 1 PASS CCC . . 23344578 OR10A2 . GRCh38 chr11 6869765 6869765 + Missense_Mutation SNP C C A novel 7316-445 BS_XHT3F34T C C c.11C>A p.Ser4Tyr p.S4Y ENST00000641461 2/2 92 75 14 54 54 0 OR10A2,missense_variant,p.Ser4Tyr,ENST00000641461,;OR10A2,missense_variant,p.Ser4Tyr,ENST00000307322,NM_001004460.1;AC087280.2,intron_variant,,ENST00000637205,; A ENSG00000170790 ENST00000641461 Transcript missense_variant 438/5390 11/912 4/303 S/Y tCt/tAt 1 1 OR10A2 HGNC HGNC:8161 protein_coding YES CCDS31415.1 ENSP00000493131 Q9H208 UPI000015F21C deleterious(0.01) possibly_damaging(0.627) 2/2 Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148 MODERATE SNV PASS TCT . . 6869765 OR10A2 . GRCh38 chr11 6869800 6869800 + Missense_Mutation SNP C C A novel 7316-445 BS_XHT3F34T C C c.46C>A p.Leu16Met p.L16M ENST00000641461 2/2 92 78 12 53 52 0 OR10A2,missense_variant,p.Leu16Met,ENST00000641461,;OR10A2,missense_variant,p.Leu16Met,ENST00000307322,NM_001004460.1;AC087280.2,intron_variant,,ENST00000637205,; A ENSG00000170790 ENST00000641461 Transcript missense_variant 473/5390 46/912 16/303 L/M Ctg/Atg 1 1 OR10A2 HGNC HGNC:8161 protein_coding YES CCDS31415.1 ENSP00000493131 Q9H208 UPI000015F21C tolerated(0.23) benign(0.01) 2/2 Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15225 MODERATE SNV PASS TCT . . 6869800 PTPRJ . GRCh38 chr11 48125111 48125111 + Nonsense_Mutation SNP C C T rs142177730 7316-445 BS_XHT3F34T C C c.1018C>T p.Arg340Ter p.R340* ENST00000418331 6/25 70 64 6 34 33 1 PTPRJ,stop_gained,p.Arg340Ter,ENST00000613246,;PTPRJ,stop_gained,p.Arg340Ter,ENST00000418331,NM_002843.3;PTPRJ,stop_gained,p.Arg340Ter,ENST00000615445,;PTPRJ,stop_gained,p.Arg340Ter,ENST00000440289,NM_001098503.1;PTPRJ,downstream_gene_variant,,ENST00000527952,;PTPRJ,downstream_gene_variant,,ENST00000534219,;PTPRJ,downstream_gene_variant,,ENST00000526550,; T ENSG00000149177 ENST00000418331 Transcript stop_gained 1370/5122 1018/4014 340/1337 R/* Cga/Tga rs142177730,COSM4574408,COSM4574407,COSM4574406,COSM3670780,COSM3670779,COSM3670778 1 1 PTPRJ HGNC HGNC:9673 protein_coding YES CCDS7945.1 ENSP00000400010 Q12913 UPI00004564C8 NM_002843.3 6/25 Gene3D:2.60.40.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF211,SMART_domains:SM00060 0.0001163 0,1,1,1,1,1,1 HIGH 1 SNV 1 0,1,1,1,1,1,1 PASS CCG . . 8.124e-06 5.802e-05 8.956e-06 48125111 KDM2A . GRCh38 chr11 67250082 67250082 + Splice_Region SNP G G C novel 7316-445 BS_XHT3F34T G G c.2056-4G>C ENST00000529006 78 63 11 48 47 0 KDM2A,splice_region_variant,,ENST00000308783,;KDM2A,splice_region_variant,,ENST00000398645,;KDM2A,splice_region_variant,,ENST00000529006,NM_012308.2;KDM2A,splice_region_variant,,ENST00000530342,NM_001256405.1;KDM2A,splice_region_variant,,ENST00000526258,;KDM2A,splice_region_variant,,ENST00000531696,;KDM2A,upstream_gene_variant,,ENST00000524657,;KDM2A,downstream_gene_variant,,ENST00000525041,;KDM2A,downstream_gene_variant,,ENST00000529124,;KDM2A,downstream_gene_variant,,ENST00000534486,; C ENSG00000173120 ENST00000529006 Transcript splice_region_variant,intron_variant 1 1 KDM2A HGNC HGNC:13606 protein_coding YES CCDS44657.1 ENSP00000432786 Q9Y2K7 I3VM53 UPI00001678A9 NM_012308.2 16/20 LOW 1 SNV 1 PASS TGC . . 67250082 ATM . GRCh38 chr11 108304722 108304722 + Missense_Mutation SNP T T G novel 7316-445 BS_XHT3F34T T T c.5544T>G p.Asp1848Glu p.D1848E ENST00000278616 37/63 86 76 8 52 50 0 ATM,missense_variant,p.Asp1848Glu,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Asp1848Glu,ENST00000452508,NM_001351834.1;C11orf65,downstream_gene_variant,,ENST00000525729,NM_001330368.1;ATM,upstream_gene_variant,,ENST00000532765,;ATM,missense_variant,p.Asp19Glu,ENST00000529588,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,downstream_gene_variant,,ENST00000534625,; G ENSG00000149311 ENST00000278616 Transcript missense_variant 5929/13147 5544/9171 1848/3056 D/E gaT/gaG 1 1 ATM HGNC HGNC:795 protein_coding YES CCDS31669.1 ENSP00000278616 Q13315 A0A024R3C7 UPI000016B511 NM_000051.3 tolerated(0.07) benign(0.132) 37/63 Gene3D:1.25.10.20,PDB-ENSP_mappings:5np0.A,PDB-ENSP_mappings:5np0.B,PDB-ENSP_mappings:5np1.A,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF96 MODERATE 1 SNV 5 1 PASS ATA . . 108304722 ARHGEF12 . GRCh38 chr11 120446997 120446997 + Missense_Mutation SNP C C G novel 7316-445 BS_XHT3F34T C C c.1501C>G p.Leu501Val p.L501V ENST00000397843 18/41 86 76 9 40 40 0 ARHGEF12,missense_variant,p.Leu501Val,ENST00000397843,NM_015313.2;ARHGEF12,missense_variant,p.Leu398Val,ENST00000532993,NM_001301084.1;ARHGEF12,missense_variant,p.Leu482Val,ENST00000356641,NM_001198665.1;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000528225,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000525960,;ARHGEF12,upstream_gene_variant,,ENST00000525222,;ARHGEF12,upstream_gene_variant,,ENST00000532823,; G ENSG00000196914 ENST00000397843 Transcript missense_variant 1667/9660 1501/4635 501/1544 L/V Ctt/Gtt 1 1 ARHGEF12 HGNC HGNC:14193 protein_coding YES CCDS41727.1 ENSP00000380942 Q9NZN5 UPI00000708ED NM_015313.2 deleterious(0.05) probably_damaging(0.999) 18/41 Coiled-coils_(Ncoils):Coil,cd08754,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF126,Pfam_domain:PF09128,Superfamily_domains:SSF48097 MODERATE 1 SNV 1 1 PASS ACT . . 120446997 ARHGEF12 . GRCh38 chr11 120447027 120447027 + Missense_Mutation SNP A A G novel 7316-445 BS_XHT3F34T A A c.1531A>G p.Thr511Ala p.T511A ENST00000397843 18/41 90 80 9 39 39 0 ARHGEF12,missense_variant,p.Thr511Ala,ENST00000397843,NM_015313.2;ARHGEF12,missense_variant,p.Thr408Ala,ENST00000532993,NM_001301084.1;ARHGEF12,missense_variant,p.Thr492Ala,ENST00000356641,NM_001198665.1;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000528225,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000525960,;ARHGEF12,upstream_gene_variant,,ENST00000525222,;ARHGEF12,upstream_gene_variant,,ENST00000532823,; G ENSG00000196914 ENST00000397843 Transcript missense_variant 1697/9660 1531/4635 511/1544 T/A Act/Gct 1 1 ARHGEF12 HGNC HGNC:14193 protein_coding YES CCDS41727.1 ENSP00000380942 Q9NZN5 UPI00000708ED NM_015313.2 tolerated(0.75) benign(0.007) 18/41 Coiled-coils_(Ncoils):Coil,cd08754,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF126,Pfam_domain:PF09128,Superfamily_domains:SSF48097 MODERATE 1 SNV 1 1 PASS GAC . . 120447027 BAHD1 . GRCh38 chr15 40458921 40458921 + Missense_Mutation SNP C C T rs369397772 7316-445 BS_XHT3F34T C C c.457C>T p.Arg153Cys p.R153C ENST00000416165 2/7 77 65 10 51 50 0 BAHD1,missense_variant,p.Arg153Cys,ENST00000561234,NM_001301132.1;BAHD1,missense_variant,p.Arg153Cys,ENST00000416165,NM_014952.4;BAHD1,missense_variant,p.Arg153Cys,ENST00000560846,;AC013356.3,upstream_gene_variant,,ENST00000558601,; T ENSG00000140320 ENST00000416165 Transcript missense_variant 528/4526 457/2343 153/780 R/C Cgc/Tgc rs369397772 1 1 BAHD1 HGNC HGNC:29153 protein_coding YES CCDS10058.1 ENSP00000396976 Q8TBE0 A0A024R9K2 UPI000013D778 NM_014952.4 tolerated(0.11) benign(0) 2/7 mobidb-lite,hmmpanther:PTHR12505:SF20,hmmpanther:PTHR12505 0.000229 0.0001168 MODERATE 1 SNV 1 PASS CCG . . 6.078e-05 0.0002483 5.882e-05 1.935e-05 0.0001059 40458921 OTOA . GRCh38 chr16 21736361 21736361 + Missense_Mutation SNP A A G 7316-445 BS_XHT3F34T A A c.2402A>G p.Asp801Gly p.D801G ENST00000646100 22/29 66 59 5 53 53 0 OTOA,missense_variant,p.Asp801Gly,ENST00000646100,;OTOA,missense_variant,p.Asp801Gly,ENST00000388958,NM_144672.3;OTOA,missense_variant,p.Asp815Gly,ENST00000286149,;OTOA,missense_variant,p.Asp722Gly,ENST00000388956,NM_001161683.1;OTOA,missense_variant,p.Asp477Gly,ENST00000388957,NM_170664.2;OTOA,3_prime_UTR_variant,,ENST00000647277,;OTOA,non_coding_transcript_exon_variant,,ENST00000563871,;OTOA,non_coding_transcript_exon_variant,,ENST00000563506,; G ENSG00000155719 ENST00000646100 Transcript missense_variant 2668/3875 2402/3420 801/1139 D/G gAt/gGt COSM5805703,COSM5805702,COSM5805701,COSM5805700 1 1 OTOA HGNC HGNC:16378 protein_coding YES CCDS10600.2 ENSP00000496564 UPI00005C8607 tolerated(0.38) benign(0.034) 22/29 hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF18 1,1,1,1 MODERATE 1 SNV 1,1,1,1 1 PASS GAT . . 21736361 SLC35G4 . GRCh38 chr18 11610509 11610509 + Missense_Mutation SNP T T C rs763641417 7316-445 BS_XHT3F34T T T c.914T>C p.Val305Ala p.V305A ENST00000588001 1/1 46 35 10 25 25 0 SLC35G4,missense_variant,p.Val305Ala,ENST00000588001,NM_001282300.1; C ENSG00000236396 ENST00000588001 Transcript missense_variant 914/1017 914/1017 305/338 V/A gTg/gCg rs763641417,COSM5425009 1 1 SLC35G4 HGNC HGNC:31043 protein_coding YES CCDS82241.1 ENSP00000490812 P0C7Q5 UPI0000140C0D NM_001282300.1 tolerated(0.35) possibly_damaging(0.495) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481 0,1 MODERATE 1 SNV 0,1 PASS GTG . . 0.008053 0.01003 0.01579 0.004655 0.03477 0.002798 0.002925 0.009821 0.01115 11610509 NOP56 . GRCh38 chr20 2658016 2658016 + Missense_Mutation SNP T T G novel 7316-445 BS_XHT3F34T T T c.1507T>G p.Phe503Val p.F503V ENST00000329276 12/12 70 63 7 54 54 0 NOP56,missense_variant,p.Phe503Val,ENST00000329276,NM_006392.3;NOP56,3_prime_UTR_variant,,ENST00000415272,;IDH3B,downstream_gene_variant,,ENST00000380843,NM_006899.4;IDH3B,downstream_gene_variant,,ENST00000380851,NM_174855.3;NOP56,downstream_gene_variant,,ENST00000445139,;IDH3B,downstream_gene_variant,,ENST00000474315,NM_001330763.1;IDH3B,downstream_gene_variant,,ENST00000613370,NM_001258384.2;SNORD86,downstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORD56,downstream_gene_variant,,ENST00000413522,;SNORD57,downstream_gene_variant,,ENST00000448188,;SNORA51,downstream_gene_variant,,ENST00000606420,;NOP56,non_coding_transcript_exon_variant,,ENST00000492135,;NOP56,non_coding_transcript_exon_variant,,ENST00000466447,;NOP56,non_coding_transcript_exon_variant,,ENST00000462630,;NOP56,non_coding_transcript_exon_variant,,ENST00000467857,;NOP56,downstream_gene_variant,,ENST00000460258,;NOP56,downstream_gene_variant,,ENST00000469588,;NOP56,downstream_gene_variant,,ENST00000470143,;NOP56,downstream_gene_variant,,ENST00000471023,;NOP56,downstream_gene_variant,,ENST00000480447,;NOP56,downstream_gene_variant,,ENST00000480992,;NOP56,downstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000490753,;NOP56,downstream_gene_variant,,ENST00000494697,;NOP56,downstream_gene_variant,,ENST00000496775,;NOP56,3_prime_UTR_variant,,ENST00000467196,;NOP56,non_coding_transcript_exon_variant,,ENST00000612233,;NOP56,non_coding_transcript_exon_variant,,ENST00000616692,;IDH3B,downstream_gene_variant,,ENST00000462967,;IDH3B,downstream_gene_variant,,ENST00000466494,;IDH3B,downstream_gene_variant,,ENST00000466999,;IDH3B,downstream_gene_variant,,ENST00000477689,;IDH3B,downstream_gene_variant,,ENST00000479376,;IDH3B,downstream_gene_variant,,ENST00000488299,;IDH3B,downstream_gene_variant,,ENST00000491065,;IDH3B,downstream_gene_variant,,ENST00000492240,; G ENSG00000101361 ENST00000329276 Transcript missense_variant 2023/2400 1507/1785 503/594 F/V Ttc/Gtc 1 1 NOP56 HGNC HGNC:15911 protein_coding YES CCDS13030.1 ENSP00000370589 O00567 UPI000016A81D NM_006392.3 tolerated_low_confidence(0.73) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894 MODERATE 1 SNV 1 1 PASS TTT . . 2658016 FLRT3 . GRCh38 chr20 14327394 14327394 + Missense_Mutation SNP T T G novel 7316-445 BS_XHT3F34T T T c.113A>C p.Asp38Ala p.D38A ENST00000378053 2/2 75 65 8 46 46 0 FLRT3,missense_variant,p.Asp38Ala,ENST00000378053,NM_013281.3;FLRT3,missense_variant,p.Asp38Ala,ENST00000341420,NM_198391.2;MACROD2,intron_variant,,ENST00000217246,NM_080676.5;MACROD2,intron_variant,,ENST00000642719,;MACROD2,intron_variant,,ENST00000477147,;MACROD2,intron_variant,,ENST00000490428,;MACROD2,intron_variant,,ENST00000494602,;FLRT3,downstream_gene_variant,,ENST00000462077,; G ENSG00000125848 ENST00000378053 Transcript missense_variant 370/4776 113/1950 38/649 D/A gAt/gCt 1 -1 FLRT3 HGNC HGNC:3762 protein_coding YES CCDS13121.1 ENSP00000367292 Q9NZU0 UPI0000001BE7 NM_013281.3 deleterious(0) probably_damaging(0.991) 2/2 PDB-ENSP_mappings:5cmn.A,PDB-ENSP_mappings:5cmn.B,PDB-ENSP_mappings:5cmn.C,PDB-ENSP_mappings:5cmn.D,PDB-ENSP_mappings:5cmp.A,PDB-ENSP_mappings:5cmp.B,PDB-ENSP_mappings:5cmp.C,PDB-ENSP_mappings:5cmp.D,hmmpanther:PTHR44070,hmmpanther:PTHR44070:SF5,Gene3D:3.80.10.10,SMART_domains:SM00013,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 1 PASS ATC . . 14327394 RBBP8NL . GRCh38 chr20 62414060 62414060 + Missense_Mutation SNP C C A novel 7316-445 BS_XHT3F34T C C c.1291G>T p.Ala431Ser p.A431S ENST00000252998 10/14 115 103 7 62 62 0 RBBP8NL,missense_variant,p.Ala431Ser,ENST00000252998,NM_080833.2; A ENSG00000130701 ENST00000252998 Transcript missense_variant 1448/2793 1291/1995 431/664 A/S Gca/Tca 1 -1 RBBP8NL HGNC HGNC:16144 protein_coding YES CCDS13498.1 ENSP00000252998 Q8NC74 UPI000013CDA2 NM_080833.2 tolerated(0.3) benign(0.003) 10/14 mobidb-lite,hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF3 MODERATE 1 SNV 2 PASS GCA . . 62414060 LZTR1 . GRCh38 chr22 20982391 20982392 + Frame_Shift_Ins INS - - G rs760808069 7316-445 BS_XHT3F34T - - c.27dup p.Gln10AlafsTer24 p.Q10Afs*24 ENST00000215739 1/21 106 91 9 64 63 0 LZTR1,frameshift_variant,p.Gln10AlafsTer24,ENST00000215739,;LZTR1,frameshift_variant,p.Gln10AlafsTer24,ENST00000646124,NM_006767.3;LZTR1,frameshift_variant,p.Gln10AlafsTer24,ENST00000645935,;AIFM3,downstream_gene_variant,,ENST00000399163,NM_001018060.2;AIFM3,downstream_gene_variant,,ENST00000399167,NM_144704.2;AIFM3,downstream_gene_variant,,ENST00000405089,NM_001146288.1;AIFM3,downstream_gene_variant,,ENST00000440238,;LZTR1,upstream_gene_variant,,ENST00000644435,;AC002470.1,upstream_gene_variant,,ENST00000610278,;AC002470.2,intron_variant,,ENST00000479606,;AIFM3,downstream_gene_variant,,ENST00000465606,;LZTR1,upstream_gene_variant,,ENST00000480895,;AIFM3,downstream_gene_variant,,ENST00000483107,;LZTR1,frameshift_variant,p.Gln10AlafsTer24,ENST00000414985,;LZTR1,frameshift_variant,p.Gln10AlafsTer24,ENST00000443265,;LZTR1,non_coding_transcript_exon_variant,,ENST00000493460,;AIFM3,downstream_gene_variant,,ENST00000486003,;LZTR1,upstream_gene_variant,,ENST00000642151,;,regulatory_region_variant,,ENSR00000143965,; G ENSG00000099949 ENST00000215739 Transcript frameshift_variant 379-380/4572 20-21/2523 7/840 T/TX acg/acGg rs760808069 1 1 LZTR1 HGNC HGNC:6742 protein_coding YES CCDS33606.1 ENSP00000215739 Q8N653 UPI000013C695 1/21 HIGH 1 insertion 1 7 1 PASS ACG . . 9.059e-05 0.000446 6.609e-05 5.053e-05 0.0002563 0.0001674 20982391 AC245047.8 . GRCh38 chrX 48277081 48277081 + Splice_Region DEL A A - novel 7316-445 BS_XHT3F34T A A n.70-5del ENST00000456455 42 34 5 25 22 0 AC245047.8,splice_region_variant,,ENST00000456455,;AC245047.4,upstream_gene_variant,,ENST00000433189,;AC245047.6,upstream_gene_variant,,ENST00000445444,; - ENSG00000241207 ENST00000456455 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AC245047.8 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/2 LOW 1 deletion PASS ACAA . . 48277080 H2BFWT . GRCh38 chrX 104013591 104013591 + Missense_Mutation SNP C C T novel 7316-445 BS_XHT3F34T C C c.70G>A p.Ala24Thr p.A24T ENST00000217926 1/3 38 24 13 31 31 0 H2BFWT,missense_variant,p.Ala24Thr,ENST00000217926,NM_001002916.4;H2BFWT,missense_variant,p.Ala24Thr,ENST00000611083,; T ENSG00000123569 ENST00000217926 Transcript missense_variant 97/894 70/528 24/175 A/T Gcc/Acc 1 -1 H2BFWT HGNC HGNC:27252 protein_coding YES CCDS35362.1 ENSP00000354723 Q7Z2G1 UPI000019B16C NM_001002916.4 deleterious(0.02) probably_damaging(0.995) 1/3 hmmpanther:PTHR23428,hmmpanther:PTHR23428:SF27,Pfam_domain:PF00125 MODERATE 1 SNV 1 PASS GCC . . 104013591 HPCA . GRCh38 chr1 32888917 32888917 + Missense_Mutation SNP A A G 7316-2152 BS_1034EC8V A A c.19A>G p.Lys7Glu p.K7E ENST00000373467 2/4 58 39 18 44 44 0 HPCA,missense_variant,p.Lys7Glu,ENST00000373467,NM_002143.2;HPCA,non_coding_transcript_exon_variant,,ENST00000480118,;HPCA,intron_variant,,ENST00000459874,;HPCA,intron_variant,,ENST00000470166,;HPCA,upstream_gene_variant,,ENST00000470896,; G ENSG00000121905 ENST00000373467 Transcript missense_variant 121/1468 19/582 7/193 K/E Aag/Gag COSM6404770 1 1 HPCA HGNC HGNC:5144 protein_coding YES CCDS370.1 ENSP00000362566 P84074 UPI0000022FC5 NM_002143.2 deleterious(0) possibly_damaging(0.884) 2/4 PDB-ENSP_mappings:5g4p.A,PDB-ENSP_mappings:5g4p.E,PDB-ENSP_mappings:5g58.A,PDB-ENSP_mappings:5g58.E,PDB-ENSP_mappings:5m6c.A,PDB-ENSP_mappings:5m6c.E,Gene3D:1.10.238.110,Superfamily_domains:SSF47473,hmmpanther:PTHR23055:SF57,hmmpanther:PTHR23055 1 MODERATE 1 SNV 1 1 1 PASS CAA . . 32888917 SMG5 . GRCh38 chr1 156268107 156268107 + Splice_Region SNP C C T novel 7316-2152 BS_1034EC8V C C c.908+8G>A ENST00000361813 93 58 33 42 42 0 SMG5,splice_region_variant,,ENST00000361813,NM_001323614.1,NM_001323617.1,NM_001323616.1,NM_001323615.1,NM_015327.2;SMG5,upstream_gene_variant,,ENST00000489907,; T ENSG00000198952 ENST00000361813 Transcript splice_region_variant,intron_variant 1 -1 SMG5 HGNC HGNC:24644 protein_coding YES CCDS1137.1 ENSP00000355261 Q9UPR3 UPI0000050C24 NM_001323614.1,NM_001323617.1,NM_001323616.1,NM_001323615.1,NM_015327.2 9/21 LOW 1 SNV 1 PASS TCC . . 156268107 SMG5 . GRCh38 chr1 156268405 156268405 + Missense_Mutation SNP C C G novel 7316-2152 BS_1034EC8V C C c.724G>C p.Glu242Gln p.E242Q ENST00000361813 8/22 86 71 13 38 38 0 SMG5,missense_variant,p.Glu242Gln,ENST00000361813,NM_001323614.1,NM_001323617.1,NM_001323616.1,NM_001323615.1,NM_015327.2;SMG5,upstream_gene_variant,,ENST00000489907,;,regulatory_region_variant,,ENSR00000014175,; G ENSG00000198952 ENST00000361813 Transcript missense_variant 869/4559 724/3051 242/1016 E/Q Gaa/Caa 1 -1 SMG5 HGNC HGNC:24644 protein_coding YES CCDS1137.1 ENSP00000355261 Q9UPR3 UPI0000050C24 NM_001323614.1,NM_001323617.1,NM_001323616.1,NM_001323615.1,NM_015327.2 deleterious(0.01) benign(0.425) 8/22 Gene3D:1.25.40.10,Pfam_domain:PF10373,hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF7,Superfamily_domains:SSF48452 MODERATE 1 SNV 1 PASS TCT . . 156268405 SLC41A1 . GRCh38 chr1 205799781 205799781 + Missense_Mutation SNP G G A rs534062154 7316-2152 BS_1034EC8V G G c.530C>T p.Thr177Ile p.T177I ENST00000367137 4/11 92 72 19 39 36 0 SLC41A1,missense_variant,p.Thr177Ile,ENST00000367137,NM_173854.5;SLC41A1,non_coding_transcript_exon_variant,,ENST00000468057,;SLC41A1,upstream_gene_variant,,ENST00000484228,; A ENSG00000133065 ENST00000367137 Transcript missense_variant 1545/4997 530/1542 177/513 T/I aCt/aTt rs534062154 1 -1 SLC41A1 HGNC HGNC:19429 protein_coding YES CCDS30988.1 ENSP00000356105 Q8IVJ1 B2RMP2 UPI000013E1E6 NM_173854.5 tolerated(1) benign(0.01) 4/11 hmmpanther:PTHR16228:SF23,hmmpanther:PTHR16228,Pfam_domain:PF01769,Gene3D:1.10.357.20,Superfamily_domains:SSF161093 0.0002 0.0014 MODERATE 1 SNV 1 PASS AGT . . 4.063e-06 2.978e-05 205799781 DNAH14 . GRCh38 chr1 225051636 225051636 + Missense_Mutation SNP A A T novel 7316-2152 BS_1034EC8V A A c.2265A>T p.Arg755Ser p.R755S ENST00000430092 17/84 102 72 28 41 40 0 DNAH14,missense_variant,p.Arg755Ser,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Arg755Ser,ENST00000439375,;DNAH14,missense_variant,p.Arg726Ser,ENST00000445597,; T ENSG00000185842 ENST00000430092 Transcript missense_variant 2480/13763 2265/13548 755/4515 R/S agA/agT 1 1 DNAH14 HGNC HGNC:2945 protein_coding ENSP00000414402 Q0VDD8 UPI000192C36D NM_001373.1 tolerated(0.21) benign(0.121) 17/84 hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF339 MODERATE 1 SNV 5 PASS GAC . . 225051636 H3F3A . GRCh38 chr1 226064434 226064434 + Missense_Mutation SNP A A T rs1057519903 7316-2152 BS_1034EC8V A A c.83A>T p.Lys28Met p.K28M ENST00000366813 1/3 98 67 29 43 43 0 H3F3A,missense_variant,p.Lys28Met,ENST00000366814,;H3F3A,missense_variant,p.Lys28Met,ENST00000366813,;H3F3A,missense_variant,p.Lys28Met,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Lys28Met,ENST00000366816,;AL512343.2,upstream_gene_variant,,ENST00000609423,;,regulatory_region_variant,,ENSR00000021067,; T ENSG00000163041 ENST00000366813 Transcript missense_variant 458/1308 83/411 28/136 K/M aAg/aTg rs1057519903,COSM327928,COSM1961654 1 1 H3F3A HGNC HGNC:4764 protein_coding YES CCDS1550.1 ENSP00000355778 P84243 B2R4P9 UPI00000007B0 deleterious_low_confidence(0.01) possibly_damaging(0.697) 1/3 Gene3D:1.10.20.10,PDB-ENSP_mappings:3av2.A,PDB-ENSP_mappings:3av2.E,PDB-ENSP_mappings:3muk.D,PDB-ENSP_mappings:3wtp.E,PDB-ENSP_mappings:4h9n.A,PDB-ENSP_mappings:4h9o.A,PDB-ENSP_mappings:4h9p.A,PDB-ENSP_mappings:4h9q.A,PDB-ENSP_mappings:4h9r.A,PDB-ENSP_mappings:4h9s.A,PDB-ENSP_mappings:4h9s.B,PDB-ENSP_mappings:4hga.B,PDB-ENSP_mappings:4n4i.B,PDB-ENSP_mappings:5ay8.A,PDB-ENSP_mappings:5ay8.E,PDB-ENSP_mappings:5b32.A,PDB-ENSP_mappings:5b32.E,PDB-ENSP_mappings:5b33.A,PDB-ENSP_mappings:5b33.E,PDB-ENSP_mappings:5dwq.F,PDB-ENSP_mappings:5dwq.G,PDB-ENSP_mappings:5dx0.F,PDB-ENSP_mappings:5dx0.G,PDB-ENSP_mappings:5dx0.H,PDB-ENSP_mappings:5dx0.I,PDB-ENSP_mappings:5kdm.A,PDB-ENSP_mappings:5x7x.A,PDB-ENSP_mappings:5x7x.E,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Superfamily_domains:SSF47113,mobidb-lite likely_pathogenic 1,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS AAG . . 226064434 EXOC8 . GRCh38 chr1 231336939 231336939 + Missense_Mutation SNP G G C novel 7316-2152 BS_1034EC8V G G c.807C>G p.Ile269Met p.I269M ENST00000366645 1/1 82 64 16 48 48 0 EXOC8,missense_variant,p.Ile269Met,ENST00000366645,NM_175876.4;SPRTN,upstream_gene_variant,,ENST00000008440,NM_001261462.2;SPRTN,upstream_gene_variant,,ENST00000295050,NM_032018.6;SPRTN,upstream_gene_variant,,ENST00000366644,;SPRTN,upstream_gene_variant,,ENST00000391858,NM_001010984.3;SPRTN,upstream_gene_variant,,ENST00000492437,;,regulatory_region_variant,,ENSR00000257261,; C ENSG00000116903 ENST00000366645 Transcript missense_variant 914/5100 807/2178 269/725 I/M atC/atG 1 -1 EXOC8 HGNC HGNC:24659 protein_coding YES CCDS1593.1 ENSP00000355605 Q8IYI6 UPI000006EA2C NM_175876.4 tolerated(0.11) possibly_damaging(0.518) 1/1 PROSITE_profiles:PS50003,cd01226,hmmpanther:PTHR21426,hmmpanther:PTHR21426:SF12,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729 MODERATE SNV PASS TGA . . 231336939 EXOC8 . GRCh38 chr1 231336993 231336993 + Missense_Mutation SNP G G C novel 7316-2152 BS_1034EC8V G G c.753C>G p.Phe251Leu p.F251L ENST00000366645 1/1 83 65 16 40 39 0 EXOC8,missense_variant,p.Phe251Leu,ENST00000366645,NM_175876.4;SPRTN,upstream_gene_variant,,ENST00000008440,NM_001261462.2;SPRTN,upstream_gene_variant,,ENST00000295050,NM_032018.6;SPRTN,upstream_gene_variant,,ENST00000366644,;SPRTN,upstream_gene_variant,,ENST00000391858,NM_001010984.3;SPRTN,upstream_gene_variant,,ENST00000492437,;,regulatory_region_variant,,ENSR00000257261,; C ENSG00000116903 ENST00000366645 Transcript missense_variant 860/5100 753/2178 251/725 F/L ttC/ttG 1 -1 EXOC8 HGNC HGNC:24659 protein_coding YES CCDS1593.1 ENSP00000355605 Q8IYI6 UPI000006EA2C NM_175876.4 deleterious(0) probably_damaging(0.986) 1/1 PROSITE_profiles:PS50003,cd01226,hmmpanther:PTHR21426,hmmpanther:PTHR21426:SF12,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729 MODERATE SNV PASS TGA . . 231336993 EXOC8 . GRCh38 chr1 231337070 231337070 + Missense_Mutation SNP G G C novel 7316-2152 BS_1034EC8V G G c.676C>G p.Arg226Gly p.R226G ENST00000366645 1/1 78 52 25 41 40 0 EXOC8,missense_variant,p.Arg226Gly,ENST00000366645,NM_175876.4;SPRTN,upstream_gene_variant,,ENST00000008440,NM_001261462.2;SPRTN,upstream_gene_variant,,ENST00000295050,NM_032018.6;SPRTN,upstream_gene_variant,,ENST00000366644,;SPRTN,upstream_gene_variant,,ENST00000391858,NM_001010984.3;SPRTN,upstream_gene_variant,,ENST00000492437,;,regulatory_region_variant,,ENSR00000257261,; C ENSG00000116903 ENST00000366645 Transcript missense_variant 783/5100 676/2178 226/725 R/G Cgc/Ggc 1 -1 EXOC8 HGNC HGNC:24659 protein_coding YES CCDS1593.1 ENSP00000355605 Q8IYI6 UPI000006EA2C NM_175876.4 deleterious(0) benign(0.244) 1/1 PROSITE_profiles:PS50003,cd01226,hmmpanther:PTHR21426,hmmpanther:PTHR21426:SF12,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729 MODERATE SNV PASS CGA . . 231337070 EXOC8 . GRCh38 chr1 231337210 231337210 + Missense_Mutation SNP G G T novel 7316-2152 BS_1034EC8V G G c.536C>A p.Pro179Gln p.P179Q ENST00000366645 1/1 84 60 24 30 30 0 EXOC8,missense_variant,p.Pro179Gln,ENST00000366645,NM_175876.4;SPRTN,5_prime_UTR_variant,,ENST00000391858,NM_001010984.3;SPRTN,upstream_gene_variant,,ENST00000008440,NM_001261462.2;SPRTN,upstream_gene_variant,,ENST00000295050,NM_032018.6;SPRTN,upstream_gene_variant,,ENST00000366644,;SPRTN,upstream_gene_variant,,ENST00000492437,;,regulatory_region_variant,,ENSR00000257261,; T ENSG00000116903 ENST00000366645 Transcript missense_variant 643/5100 536/2178 179/725 P/Q cCg/cAg 1 -1 EXOC8 HGNC HGNC:24659 protein_coding YES CCDS1593.1 ENSP00000355605 Q8IYI6 UPI000006EA2C NM_175876.4 deleterious(0.03) possibly_damaging(0.779) 1/1 cd01226,hmmpanther:PTHR21426,hmmpanther:PTHR21426:SF12,Gene3D:2.30.29.30 MODERATE SNV PASS CGG . . 231337210 SLC9A2 . GRCh38 chr2 102657909 102657909 + Missense_Mutation SNP G G A novel 7316-2152 BS_1034EC8V G G c.635G>A p.Ser212Asn p.S212N ENST00000233969 2/12 78 42 35 44 42 0 SLC9A2,missense_variant,p.Ser212Asn,ENST00000233969,NM_003048.4; A ENSG00000115616 ENST00000233969 Transcript missense_variant 777/5410 635/2439 212/812 S/N aGc/aAc 1 1 SLC9A2 HGNC HGNC:11072 protein_coding YES CCDS2062.1 ENSP00000233969 Q9UBY0 UPI000012FD21 NM_003048.4 deleterious(0.02) probably_damaging(0.986) 2/12 Pfam_domain:PF00999,Prints_domain:PR01084,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF89,TIGRFAM_domain:TIGR00840,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS AGC . . 102657909 CFAP65 . GRCh38 chr2 219006458 219006458 + Splice_Region SNP G G A rs773071190 7316-2152 BS_1034EC8V G G c.4719+7C>T ENST00000341552 82 57 24 43 43 0 CFAP65,splice_region_variant,,ENST00000341552,NM_194302.3;CFAP65,splice_region_variant,,ENST00000453220,;MIR375,upstream_gene_variant,,ENST00000362103,;AC097468.1,intron_variant,,ENST00000441450,; A ENSG00000181378 ENST00000341552 Transcript splice_region_variant,intron_variant rs773071190 1 -1 CFAP65 HGNC HGNC:25325 protein_coding YES CCDS2430.2 ENSP00000340776 Q6ZU64 UPI0000609097 NM_194302.3 30/34 LOW SNV 5 PASS CGC . . 1.221e-05 2.696e-05 219006458 COL4A3 . GRCh38 chr2 227263846 227263846 + Missense_Mutation SNP G G A rs373952897 7316-2152 BS_1034EC8V G G c.1217G>A p.Arg406Gln p.R406Q ENST00000396578 21/52 94 69 24 37 36 0 COL4A3,missense_variant,p.Arg406Gln,ENST00000396578,NM_000091.4;AC097662.1,intron_variant,,ENST00000396588,;AC097662.1,intron_variant,,ENST00000437673,;AC097662.1,intron_variant,,ENST00000439598,;AC097662.1,downstream_gene_variant,,ENST00000433324,;AC097662.1,upstream_gene_variant,,ENST00000606119,; A ENSG00000169031 ENST00000396578 Transcript missense_variant 1379/8097 1217/5013 406/1670 R/Q cGa/cAa rs373952897,COSM4523491,COSM4523490 1 1 COL4A3 HGNC HGNC:2204 protein_coding YES CCDS42829.1 ENSP00000379823 Q01955 UPI000013E9F3 NM_000091.4 tolerated(0.53) benign(0.313) 21/52 Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF435,mobidb-lite 0.0005362 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CGA . . 2.033e-05 6.55e-05 8.964e-06 9.747e-05 227263846 FGD5 . GRCh38 chr3 14820700 14820704 + Frame_Shift_Del DEL CTTTA CTTTA - novel 7316-2152 BS_1034EC8V CTTTA CTTTA c.1634_1638del p.Thr545IlefsTer21 p.T545Ifs*21 ENST00000285046 1/20 58 42 12 49 49 0 FGD5,frameshift_variant,p.Thr304IlefsTer21,ENST00000543601,NM_001320276.1;FGD5,frameshift_variant,p.Thr545IlefsTer21,ENST00000285046,NM_152536.3;FGD5,frameshift_variant,p.Thr588IlefsTer21,ENST00000640506,;FGD5,upstream_gene_variant,,ENST00000457774,; - ENSG00000154783 ENST00000285046 Transcript frameshift_variant 1739-1743/5720 1629-1633/4389 543-545/1462 AFT/AX gcCTTTAct/gcct 1 1 FGD5 HGNC HGNC:19117 protein_coding YES CCDS46767.1 ENSP00000285046 Q6ZNL6 UPI00002372AE NM_152536.3 1/20 hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13 HIGH 1 deletion 1 5 PASS GCCTTTAC . . 14820699 VPS8 . GRCh38 chr3 184929635 184929635 + Missense_Mutation SNP G G C novel 7316-2152 BS_1034EC8V G G c.2770G>C p.Asp924His p.D924H ENST00000625842 33/48 134 70 60 33 33 0 VPS8,missense_variant,p.Asp924His,ENST00000287546,NM_001349295.1,NM_001349292.1,NM_001349294.1,NM_001349293.1;VPS8,missense_variant,p.Asp922His,ENST00000436792,NM_015303.3;VPS8,missense_variant,p.Asp924His,ENST00000625842,NM_001009921.2;VPS8,missense_variant,p.Asp832His,ENST00000446204,;VPS8,non_coding_transcript_exon_variant,,ENST00000463687,;VPS8,non_coding_transcript_exon_variant,,ENST00000492449,;VPS8,downstream_gene_variant,,ENST00000452140,; C ENSG00000156931 ENST00000625842 Transcript missense_variant 2877/4969 2770/4287 924/1428 D/H Gat/Cat 1 1 VPS8 HGNC HGNC:29122 protein_coding YES CCDS46971.1 ENSP00000487164 Q8N3P4 UPI0000160BDC NM_001009921.2 tolerated(0.54) benign(0.438) 33/48 hmmpanther:PTHR42968,hmmpanther:PTHR42968:SF11,Gene3D:1.25.40.10 MODERATE 1 SNV 5 PASS TGA . . 184929635 MUC4 . GRCh38 chr3 195783068 195783068 + Missense_Mutation SNP G G T rs201843719 7316-2152 BS_1034EC8V G G c.8512C>A p.Pro2838Thr p.P2838T ENST00000463781 2/25 35 20 14 32 27 2 MUC4,missense_variant,p.Pro2838Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2838Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2838Thr,ENST00000478156,;MUC4,missense_variant,p.Pro2838Thr,ENST00000466475,;MUC4,missense_variant,p.Pro2838Thr,ENST00000477756,;MUC4,missense_variant,p.Pro2838Thr,ENST00000477086,;MUC4,missense_variant,p.Pro2838Thr,ENST00000480843,;MUC4,missense_variant,p.Pro2838Thr,ENST00000462323,;MUC4,missense_variant,p.Pro2838Thr,ENST00000470451,;MUC4,missense_variant,p.Pro2838Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 8972/17110 8512/16239 2838/5412 P/T Cct/Act rs201843719,COSM479911 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(1) benign(0.056) 2/25 mobidb-lite,hmmpanther:PTHR42668 0.0635 0.0045 0.0432 0.0417 0.1521 0.089 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGG . . 0.02315 0.004117 0.007768 0.02411 0.001847 0.02435 0.03828 0.02805 0.01862 195783068 HLA-A . GRCh38 chr6 29944148 29944148 + Missense_Mutation SNP C C T rs77235917 7316-2152 BS_1034EC8V C C c.646C>T p.His216Tyr p.H216Y ENST00000396634 6/10 47 35 9 23 23 0 HLA-A,missense_variant,p.His216Tyr,ENST00000396634,;HLA-A,missense_variant,p.His216Tyr,ENST00000376806,;HLA-A,missense_variant,p.His216Tyr,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.His216Tyr,ENST00000376802,;HLA-A,missense_variant,p.His216Tyr,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;AL671277.1,upstream_gene_variant,,ENST00000429656,; T ENSG00000206503 ENST00000396634 Transcript missense_variant 987/1868 646/1098 216/365 H/Y Cac/Tac rs77235917,COSM5020894,COSM451151 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D deleterious_low_confidence(0) benign(0.37) 6/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,cd07698,Gene3D:2.60.40.10,Superfamily_domains:SSF48726,PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.0386 0.0749 0.0218 0.0785 0.0511 0.04745 0.07776 0,1,1 MODERATE 1 SNV 0,1,1 1 PASS CCA . . 0.05352 0.04028 0.05039 0.06584 0.01251 0.04585 0.06546 0.06328 0.0436 29944148 EGFR . GRCh38 chr7 55154129 55154129 + Missense_Mutation SNP C T T rs149840192 7316-2152 BS_1034EC8V C C c.866C>T p.Ala289Val p.A289V ENST00000275493 7/28 117 11 106 42 41 0 EGFR,missense_variant,p.Ala289Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala244Val,ENST00000454757,;EGFR,missense_variant,p.Ala83Val,ENST00000638463,;EGFR,missense_variant,p.Ala244Val,ENST00000455089,NM_001346897.1;EGFR,missense_variant,p.Ala289Val,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Ala289Val,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Ala289Val,ENST00000420316,NM_201283.1; T ENSG00000146648 ENST00000275493 Transcript missense_variant 1043/9821 866/3633 289/1210 A/V gCc/gTc rs149840192,COSM6950484,COSM6950483,COSM6201359,COSM4966963,COSM21687,COSM21685,COSM2153688,COSM1559811 1 1 EGFR HGNC HGNC:3236 protein_coding YES CCDS5514.1 ENSP00000275493 P00533 UPI000003E750 NM_005228.3 deleterious(0.02) probably_damaging(0.985) 7/28 Gene3D:2.10.220.10,PIRSF_domain:PIRSF000619,Pfam_domain:PF00757,Superfamily_domains:SSF57184,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416 likely_pathogenic 1,1,1,1,1,1,1,1,1 MODERATE 1 SNV 1 1,1,1,1,1,1,1,1,1 1 PASS GCC . . 55154129 CALN1 . GRCh38 chr7 72106166 72106166 + Missense_Mutation SNP G G A rs758325177 7316-2152 BS_1034EC8V G G c.373C>T p.Arg125Cys p.R125C ENST00000395275 4/7 93 66 26 47 47 0 CALN1,missense_variant,p.Arg125Cys,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Arg83Cys,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Arg83Cys,ENST00000395276,;CALN1,missense_variant,p.Arg83Cys,ENST00000431984,;CALN1,missense_variant,p.Arg83Cys,ENST00000446128,;ABCF2P2,downstream_gene_variant,,ENST00000450549,; A ENSG00000183166 ENST00000395275 Transcript missense_variant 762/9459 373/786 125/261 R/C Cgc/Tgc rs758325177,COSM1673205,COSM1673204 1 -1 CALN1 HGNC HGNC:13248 protein_coding YES CCDS47603.1 ENSP00000378690 Q9BXU9 UPI0000D4B903 NM_031468.3 deleterious(0.03) probably_damaging(1) 4/7 PROSITE_profiles:PS50222,cd00051,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51,PROSITE_patterns:PS00303,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CGC . . 8.143e-06 5.809e-05 3.259e-05 72106166 KPNA7 . GRCh38 chr7 99188371 99188371 + Missense_Mutation SNP C C T rs900159181 7316-2152 BS_1034EC8V C C c.829G>A p.Gly277Ser p.G277S ENST00000327442 6/10 98 69 28 28 28 0 KPNA7,missense_variant,p.Gly277Ser,ENST00000327442,NM_001145715.1; T ENSG00000185467 ENST00000327442 Transcript missense_variant 869/1725 829/1551 277/516 G/S Ggc/Agc rs900159181 1 -1 KPNA7 HGNC HGNC:21839 protein_coding YES CCDS47651.1 ENSP00000330878 A9QM74 UPI00004193B5 NM_001145715.1 tolerated(0.16) possibly_damaging(0.465) 6/10 Gene3D:1.25.40.150,Pfam_domain:PF00514,PIRSF_domain:PIRSF005673,hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF11,SMART_domains:SM00185,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 1 PASS CCG . . 99188371 MET . GRCh38 chr7 116778931 116778931 + Nonsense_Mutation SNP C C T 7316-2152 BS_1034EC8V C C c.3550C>T p.Arg1184Ter p.R1184* ENST00000318493 17/21 93 61 30 38 38 0 MET,stop_gained,p.Arg1166Ter,ENST00000397752,NM_000245.3,NM_001324402.1;MET,stop_gained,p.Arg1184Ter,ENST00000318493,NM_001127500.2;MET,downstream_gene_variant,,ENST00000454623,; T ENSG00000105976 ENST00000318493 Transcript stop_gained 3737/4632 3550/4227 1184/1408 R/* Cga/Tga COSM1214929 1 1 MET HGNC HGNC:7029 protein_coding YES CCDS47689.1 ENSP00000317272 P08581 A0A024R728 UPI000014033E NM_001127500.2 17/21 Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000617,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF483,SMART_domains:SM00219,Superfamily_domains:SSF56112,cd05058 1 HIGH 1 SNV 1 1 1 PASS TCG . . 116778931 TRIM24 . GRCh38 chr7 138554964 138554964 + Missense_Mutation SNP C C G novel 7316-2152 BS_1034EC8V C C c.1528C>G p.Gln510Glu p.Q510E ENST00000343526 9/19 81 65 16 50 50 0 TRIM24,missense_variant,p.Gln510Glu,ENST00000343526,NM_015905.2;TRIM24,intron_variant,,ENST00000415680,NM_003852.3;TRIM24,splice_region_variant,,ENST00000493595,;TRIM24,intron_variant,,ENST00000497516,; G ENSG00000122779 ENST00000343526 Transcript missense_variant,splice_region_variant 1743/8410 1528/3153 510/1050 Q/E Cag/Gag 1 1 TRIM24 HGNC HGNC:11812 protein_coding YES CCDS5847.1 ENSP00000340507 O15164 UPI00000012CB NM_015905.2 tolerated(0.06) possibly_damaging(0.9) 9/19 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44184,hmmpanther:PTHR44184:SF1 MODERATE 1 SNV 1 1 PASS TCA . . 138554964 ERMP1 . GRCh38 chr9 5811331 5811331 + Splice_Region SNP T T A rs768604224 7316-2152 BS_1034EC8V T T c.1115-8A>T ENST00000339450 55 47 5 42 39 0 ERMP1,splice_region_variant,,ENST00000339450,NM_024896.2;ERMP1,splice_region_variant,,ENST00000214893,;ERMP1,splice_region_variant,,ENST00000462592,;ERMP1,splice_region_variant,,ENST00000487088,;ERMP1,splice_region_variant,,ENST00000489219,;ERMP1,downstream_gene_variant,,ENST00000475005,; A ENSG00000099219 ENST00000339450 Transcript splice_region_variant,intron_variant rs768604224 1 -1 ERMP1 HGNC HGNC:23703 protein_coding YES CCDS34983.1 ENSP00000340427 Q7Z2K6 UPI00001D7694 NM_024896.2 6/14 LOW 1 SNV 1 PASS GTA . . 2.91e-05 0.0001295 7.267e-05 0.0001002 2.019e-05 5811331 CEL . GRCh38 chr9 133065150 133065150 + Missense_Mutation SNP G G A rs373668445 7316-2152 BS_1034EC8V G G c.460G>A p.Ala154Thr p.A154T ENST00000372080 4/11 80 66 11 38 38 0 CEL,missense_variant,p.Ala154Thr,ENST00000372080,NM_001807.4; A ENSG00000170835 ENST00000372080 Transcript missense_variant 476/2384 460/2271 154/756 A/T Gcc/Acc rs373668445,COSM1580236 1 1 CEL HGNC HGNC:1848 protein_coding YES CCDS43896.1 ENSP00000361151 X6R868 UPI000013E8C6 NM_001807.4 deleterious(0) probably_damaging(0.972) 4/11 Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR43903,hmmpanther:PTHR43903:SF1,Superfamily_domains:SSF53474,cd00312 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGC . . 2.031e-05 0.0001346 8.954e-06 3.249e-05 133065150 ZNF519P1 . GRCh38 chr10 80297881 80297881 + Splice_Region DEL T T - rs973547600 7316-2152 BS_1034EC8V T T n.154+18del ENST00000449011 70 46 13 25 24 0 ,regulatory_region_variant,,ENSR00000260441,;ZNF519P1,splice_region_variant,,ENST00000449011,; - ENSG00000232950 ENST00000449011 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs973547600 1 1 ZNF519P1 HGNC HGNC:50785 processed_pseudogene YES 1/1 LOW 1 deletion 10 PASS TCTT . . 80297880 OPN4 . GRCh38 chr10 86659952 86659952 + Missense_Mutation SNP G G T novel 7316-2152 BS_1034EC8V G G c.891G>T p.Gln297His p.Q297H ENST00000372071 7/11 79 63 16 42 42 0 OPN4,missense_variant,p.Gln297His,ENST00000372071,NM_001030015.2;OPN4,missense_variant,p.Gln286His,ENST00000241891,NM_033282.3;OPN4,missense_variant,p.Gln297His,ENST00000443292,; T ENSG00000122375 ENST00000372071 Transcript missense_variant 1118/2401 891/1470 297/489 Q/H caG/caT 1 1 OPN4 HGNC HGNC:14449 protein_coding YES CCDS31237.1 ENSP00000361141 Q9UHM6 UPI00001544ED NM_001030015.2 tolerated(0.18) benign(0.006) 7/11 cd15336,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR24240:SF72,hmmpanther:PTHR24240 MODERATE 1 SNV 1 PASS AGC . . 86659952 CNNM1 . GRCh38 chr10 99330619 99330619 + Missense_Mutation SNP T T G novel 7316-2152 BS_1034EC8V T T c.1232T>G p.Val411Gly p.V411G ENST00000356713 1/11 71 62 8 43 42 0 CNNM1,missense_variant,p.Val411Gly,ENST00000356713,NM_020348.2;,regulatory_region_variant,,ENSR00000032365,; G ENSG00000119946 ENST00000356713 Transcript missense_variant 1521/5959 1232/2856 411/951 V/G gTg/gGg 1 1 CNNM1 HGNC HGNC:102 protein_coding YES CCDS7478.2 ENSP00000349147 Q9NRU3 UPI0000E19A44 NM_020348.2 deleterious(0.01) benign(0.127) 1/11 Gene3D:3.10.580.10,hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF28 MODERATE 1 SNV 1 PASS GTG . . 99330619 HBE1 . GRCh38 chr11 5269817 5269817 + Missense_Mutation SNP C C G rs1162100767 7316-2152 BS_1034EC8V C C c.74G>C p.Gly25Ala p.G25A ENST00000292896 2/4 69 39 29 44 44 0 HBE1,missense_variant,p.Gly25Ala,ENST00000292896,;HBE1,missense_variant,p.Gly25Ala,ENST00000380237,;HBE1,missense_variant,p.Gly25Ala,ENST00000396895,NM_005330.3;HBG2,intron_variant,,ENST00000380252,;AC104389.4,non_coding_transcript_exon_variant,,ENST00000643199,;AC104389.4,intron_variant,,ENST00000646569,;AC104389.4,intron_variant,,ENST00000380259,; G ENSG00000213931 ENST00000292896 Transcript missense_variant 424/918 74/444 25/147 G/A gGa/gCa rs1162100767 1 -1 HBE1 HGNC HGNC:4830 protein_coding YES CCDS7756.1 ENSP00000292896 P02100 D9YZU7 UPI00000004B9 deleterious(0) probably_damaging(1) 2/4 PDB-ENSP_mappings:1a9w.E,PDB-ENSP_mappings:1a9w.F,PROSITE_profiles:PS01033,cd08925,hmmpanther:PTHR11442,hmmpanther:PTHR11442:SF74,Gene3D:1.10.490.10,Pfam_domain:PF00042,Superfamily_domains:SSF46458 MODERATE 1 SNV 1 PASS TCC . . 5269817 OR51M1 . GRCh38 chr11 5389573 5389573 + Missense_Mutation SNP A A T novel 7316-2152 BS_1034EC8V A A c.175A>T p.Ile59Phe p.I59F ENST00000642046 3/3 70 48 19 36 35 1 OR51M1,missense_variant,p.Ile59Phe,ENST00000642046,;OR51M1,missense_variant,p.Ile59Phe,ENST00000328611,NM_001004756.2;HBE1,intron_variant,,ENST00000292896,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;OR51B5,intron_variant,,ENST00000415970,;OR51B5,intron_variant,,ENST00000420465,;OR51B5,intron_variant,,ENST00000420726,;OR51M1,intron_variant,,ENST00000641529,;AC104389.4,intron_variant,,ENST00000380259,;OR51B5,intron_variant,,ENST00000418729,; T ENSG00000184698 ENST00000642046 Transcript missense_variant 402/4092 175/981 59/326 I/F Atc/Ttc 1 1 OR51M1 HGNC HGNC:14847 protein_coding YES CCDS53596.1 ENSP00000493005 Q9H341 UPI000066D8EB tolerated(1) benign(0.011) 3/3 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF44,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15222 MODERATE SNV PASS GAT . . 5389573 RAPSN . GRCh38 chr11 47441724 47441724 + Missense_Mutation SNP G G T novel 7316-2152 BS_1034EC8V G G c.799C>A p.Pro267Thr p.P267T ENST00000298854 5/8 97 70 25 53 50 0 RAPSN,missense_variant,p.Pro267Thr,ENST00000298854,NM_005055.4;RAPSN,missense_variant,p.Pro214Thr,ENST00000524487,;RAPSN,intron_variant,,ENST00000352508,NM_032645.4;RAPSN,intron_variant,,ENST00000529341,;RAPSN,non_coding_transcript_exon_variant,,ENST00000528356,; T ENSG00000165917 ENST00000298854 Transcript missense_variant 1013/1671 799/1239 267/412 P/T Ccc/Acc 1 -1 RAPSN HGNC HGNC:9863 protein_coding YES CCDS7936.1 ENSP00000298854 Q13702 A0A0S2Z4F8 UPI0000071D46 NM_005055.4 deleterious(0.01) possibly_damaging(0.588) 5/8 Gene3D:1.25.40.10,Pfam_domain:PF13424,SMART_domains:SM00028,Superfamily_domains:SSF48452,PROSITE_profiles:PS50293,hmmpanther:PTHR10098:SF126,hmmpanther:PTHR10098 MODERATE 1 SNV 1 1 PASS GGG . . 47441724 AP000790.2 . GRCh38 chr11 60029913 60029913 + Missense_Mutation SNP T T C novel 7316-2152 BS_1034EC8V T T c.434T>C p.Phe145Ser p.F145S ENST00000642343 4/5 89 56 31 27 27 0 AP000790.2,missense_variant,p.Phe145Ser,ENST00000642343,;AP000790.2,non_coding_transcript_exon_variant,,ENST00000644647,;AP000790.2,non_coding_transcript_exon_variant,,ENST00000534388,; C ENSG00000255393 ENST00000642343 Transcript missense_variant 645/937 434/483 145/160 F/S tTt/tCt 1 1 AP000790.2 Clone_based_ensembl_gene protein_coding YES ENSP00000494382 UPI000D18D4CF deleterious_low_confidence(0.01) benign(0.068) 4/5 MODERATE 1 SNV PASS TTT . . 60029913 MED17 . GRCh38 chr11 93790751 93790751 + Missense_Mutation SNP G G C novel 7316-2152 BS_1034EC8V G G c.595G>C p.Val199Leu p.V199L ENST00000251871 3/12 67 38 29 40 38 0 MED17,missense_variant,p.Val199Leu,ENST00000251871,NM_004268.4;AP001273.2,missense_variant,p.Val386Leu,ENST00000638767,;MED17,missense_variant,p.Val199Leu,ENST00000639724,;MED17,missense_variant,p.Val199Leu,ENST00000640521,;MED17,missense_variant,p.Val199Leu,ENST00000640451,;MED17,missense_variant,p.Val227Leu,ENST00000533359,;MED17,intron_variant,,ENST00000638294,;MED17,missense_variant,p.Val199Leu,ENST00000640027,;MED17,missense_variant,p.Val199Leu,ENST00000638487,;MED17,missense_variant,p.Val199Leu,ENST00000639189,;MED17,missense_variant,p.Val199Leu,ENST00000533133,;MED17,missense_variant,p.Val97Leu,ENST00000640077,;MED17,missense_variant,p.Val199Leu,ENST00000639596,;MED17,missense_variant,p.Val145Leu,ENST00000638790,;MED17,missense_variant,p.Val199Leu,ENST00000639457,;MED17,3_prime_UTR_variant,,ENST00000639523,;MED17,3_prime_UTR_variant,,ENST00000528786,;MED17,non_coding_transcript_exon_variant,,ENST00000507258,;MED17,non_coding_transcript_exon_variant,,ENST00000640583,;MED17,non_coding_transcript_exon_variant,,ENST00000640804,;MED17,non_coding_transcript_exon_variant,,ENST00000525026,;MED17,intron_variant,,ENST00000638518,;MED17,intron_variant,,ENST00000640473,;MED17,upstream_gene_variant,,ENST00000529626,;MED17,downstream_gene_variant,,ENST00000530819,;MED17,upstream_gene_variant,,ENST00000531920,; C ENSG00000042429 ENST00000251871 Transcript missense_variant 882/5142 595/1956 199/651 V/L Gtt/Ctt 1 1 MED17 HGNC HGNC:2375 protein_coding YES CCDS8295.1 ENSP00000251871 Q9NVC6 UPI000013CD1D NM_004268.4 deleterious(0.03) benign(0.005) 3/12 Pfam_domain:PF10156,hmmpanther:PTHR13114 MODERATE 1 SNV 1 1 PASS AGT . . 93790751 TAS2R43 . GRCh38 chr12 11091527 11091527 + Missense_Mutation SNP G G A rs3759244 7316-2152 BS_1034EC8V G G c.703C>T p.Leu235Phe p.L235F ENST00000531678 1/1 57 43 14 35 33 1 TAS2R43,missense_variant,p.Leu235Phe,ENST00000531678,NM_176884.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; A ENSG00000255374 ENST00000531678 Transcript missense_variant 787/1027 703/930 235/309 L/F Ctc/Ttc rs3759244,COSM4593311 1 -1 TAS2R43 HGNC HGNC:18875 protein_coding YES CCDS53749.1 ENSP00000431719 P59537 UPI000000D81F NM_176884.2 deleterious(0.03) benign(0.422) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF127,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15027 0,1 MODERATE SNV 0,1 PASS AGG . . 0.09541 0.0664 0.05041 0.02825 0.01159 0.1776 0.1503 0.08975 0.01571 11091527 PRICKLE1 . GRCh38 chr12 42460338 42460338 + Missense_Mutation SNP G G T novel 7316-2152 BS_1034EC8V G G c.1967C>A p.Thr656Asn p.T656N ENST00000345127 8/8 65 40 24 46 46 0 PRICKLE1,missense_variant,p.Thr656Asn,ENST00000345127,;PRICKLE1,missense_variant,p.Thr656Asn,ENST00000639589,;PRICKLE1,missense_variant,p.Thr656Asn,ENST00000640132,NM_001144881.1;PRICKLE1,missense_variant,p.Thr656Asn,ENST00000455697,;PRICKLE1,missense_variant,p.Thr656Asn,ENST00000445766,;PRICKLE1,missense_variant,p.Thr656Asn,ENST00000639958,NM_153026.2;PRICKLE1,missense_variant,p.Thr656Asn,ENST00000640055,;PRICKLE1,missense_variant,p.Thr656Asn,ENST00000548696,NM_001144883.1,NM_001144882.1;PRICKLE1,missense_variant,p.Thr656Asn,ENST00000639566,;PRICKLE1,missense_variant,p.Thr656Asn,ENST00000552240,;PPHLN1,downstream_gene_variant,,ENST00000317560,;AC079601.1,non_coding_transcript_exon_variant,,ENST00000547824,;PRICKLE1,downstream_gene_variant,,ENST00000640361,;PRICKLE1,non_coding_transcript_exon_variant,,ENST00000640840,;PRICKLE1,downstream_gene_variant,,ENST00000640946,; T ENSG00000139174 ENST00000345127 Transcript missense_variant 2321/5902 1967/2496 656/831 T/N aCt/aAt 1 -1 PRICKLE1 HGNC HGNC:17019 protein_coding YES CCDS8742.1 ENSP00000345064 Q96MT3 A0A024R0W7 UPI000013D6F5 tolerated(0.06) benign(0.439) 8/8 hmmpanther:PTHR24211,hmmpanther:PTHR24211:SF15 MODERATE 1 SNV 1 1 PASS AGT . . 42460338 CELA1 . GRCh38 chr12 51343849 51343849 + Missense_Mutation SNP G G C 7316-2152 BS_1034EC8V G G c.104C>G p.Ser35Cys p.S35C ENST00000293636 3/8 55 38 16 34 34 0 CELA1,missense_variant,p.Ser35Cys,ENST00000293636,NM_001971.5; C ENSG00000139610 ENST00000293636 Transcript missense_variant 145/952 104/777 35/258 S/C tCc/tGc COSM3461914 1 -1 CELA1 HGNC HGNC:3308 protein_coding YES CCDS8812.1 ENSP00000293636 Q9UNI1 UPI000013E111 NM_001971.5 deleterious(0) probably_damaging(0.954) 3/8 cd00190,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF0 1 MODERATE 1 SNV 1 1 PASS GGA . . 51343849 CELA1 . GRCh38 chr12 51343850 51343850 + Missense_Mutation SNP A A T novel 7316-2152 BS_1034EC8V A A c.103T>A p.Ser35Thr p.S35T ENST00000293636 3/8 53 37 15 34 34 0 CELA1,missense_variant,p.Ser35Thr,ENST00000293636,NM_001971.5; T ENSG00000139610 ENST00000293636 Transcript missense_variant 144/952 103/777 35/258 S/T Tcc/Acc 1 -1 CELA1 HGNC HGNC:3308 protein_coding YES CCDS8812.1 ENSP00000293636 Q9UNI1 UPI000013E111 NM_001971.5 deleterious(0.01) benign(0.04) 3/8 cd00190,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF0 MODERATE 1 SNV 1 PASS GAA . . 51343850 AGAP2 . GRCh38 chr12 57727206 57727206 + Missense_Mutation SNP C C T novel 7316-2152 BS_1034EC8V C C c.3104G>A p.Arg1035His p.R1035H ENST00000547588 18/19 67 34 31 58 58 0 AGAP2,missense_variant,p.Arg679His,ENST00000257897,NM_014770.3;AGAP2,missense_variant,p.Arg879His,ENST00000328568,;AGAP2,missense_variant,p.Arg1035His,ENST00000547588,NM_001122772.2;AGAP2,downstream_gene_variant,,ENST00000549129,;AGAP2-AS1,non_coding_transcript_exon_variant,,ENST00000542466,; T ENSG00000135439 ENST00000547588 Transcript missense_variant 3104/3579 3104/3579 1035/1192 R/H cGc/cAc 1 -1 AGAP2 HGNC HGNC:16921 protein_coding YES CCDS44932.1 ENSP00000449241 F8VVT9 UPI00001AF80C NM_001122772.2 deleterious(0.01) benign(0.262) 18/19 PROSITE_profiles:PS50115,hmmpanther:PTHR23180:SF256,hmmpanther:PTHR23180,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863 MODERATE 1 SNV 1 PASS GCG . . 57727206 CMKLR1 . GRCh38 chr12 108292431 108292431 + Missense_Mutation SNP G G A rs374245414 7316-2152 BS_1034EC8V G G c.532C>T p.Arg178Trp p.R178W ENST00000312143 3/3 75 43 30 43 43 0 CMKLR1,missense_variant,p.Arg178Trp,ENST00000312143,NM_001142344.1;CMKLR1,missense_variant,p.Arg178Trp,ENST00000412676,NM_001142345.1;CMKLR1,missense_variant,p.Arg178Trp,ENST00000550402,NM_001142343.1;CMKLR1,missense_variant,p.Arg176Trp,ENST00000552995,NM_004072.2;CMKLR1,downstream_gene_variant,,ENST00000549466,;CMKLR1,downstream_gene_variant,,ENST00000550573,; A ENSG00000174600 ENST00000312143 Transcript missense_variant 896/5283 532/1122 178/373 R/W Cgg/Tgg rs374245414,COSM94083 1 -1 CMKLR1 HGNC HGNC:2121 protein_coding YES CCDS44965.1 ENSP00000311733 Q99788 UPI0000127BD4 NM_001142344.1 deleterious(0) probably_damaging(0.997) 3/3 PROSITE_profiles:PS50262,cd15116,hmmpanther:PTHR45356,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01126 0.0002 0.0008 0.0001187 0,1 MODERATE 1 SNV 2 0,1 PASS CGG . . 3.659e-05 6.542e-05 6.278e-05 3.249e-05 108292431 OR4N5 . GRCh38 chr14 20143767 20143767 + Missense_Mutation SNP A A G novel 7316-2152 BS_1034EC8V A A c.32A>G p.Glu11Gly p.E11G ENST00000641086 3/3 86 70 15 47 47 0 OR4N5,missense_variant,p.Glu11Gly,ENST00000641086,;OR4N5,missense_variant,p.Glu11Gly,ENST00000333629,NM_001004724.1; G ENSG00000184394 ENST00000641086 Transcript missense_variant 483/2187 32/927 11/308 E/G gAa/gGa 1 1 OR4N5 HGNC HGNC:15358 protein_coding YES CCDS32031.1 ENSP00000493307 Q8IXE1 A0A126GVN4 UPI0000041C40 deleterious(0.02) benign(0.309) 3/3 Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF40,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS GAA . . 20143767 ALPK3 . GRCh38 chr15 84839995 84839995 + Missense_Mutation SNP C C A novel 7316-2152 BS_1034EC8V C C c.1322C>A p.Thr441Asn p.T441N ENST00000258888 5/14 78 54 20 44 44 0 ALPK3,missense_variant,p.Thr441Asn,ENST00000258888,NM_020778.4;,regulatory_region_variant,,ENSR00000080466,; A ENSG00000136383 ENST00000258888 Transcript missense_variant 1489/10917 1322/5724 441/1907 T/N aCc/aAc 1 1 ALPK3 HGNC HGNC:17574 protein_coding YES CCDS10333.1 ENSP00000258888 Q96L96 UPI000013D013 NM_020778.4 tolerated(0.24) benign(0.006) 5/14 mobidb-lite,hmmpanther:PTHR45152 MODERATE 1 SNV 1 PASS ACC . . 84839995 ST8SIA2 . GRCh38 chr15 92438540 92438540 + Missense_Mutation SNP G G A rs181334978 7316-2152 BS_1034EC8V G G c.478G>A p.Val160Met p.V160M ENST00000268164 4/6 78 64 11 38 38 0 ST8SIA2,missense_variant,p.Val160Met,ENST00000268164,NM_006011.3,NM_001330416.1;ST8SIA2,missense_variant,p.Val139Met,ENST00000539113,;ST8SIA2,missense_variant,p.Val117Met,ENST00000555434,;ST8SIA2,non_coding_transcript_exon_variant,,ENST00000556382,; A ENSG00000140557 ENST00000268164 Transcript missense_variant 715/5708 478/1128 160/375 V/M Gtg/Atg rs181334978,COSM6078461 1 1 ST8SIA2 HGNC HGNC:10870 protein_coding YES CCDS10372.1 ENSP00000268164 Q92186 B2R9U8 UPI0000135970 NM_006011.3,NM_001330416.1 probably_damaging(0.997) 4/6 hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF30,PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,Gene3D:3.90.1480.10 0.0001163 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 8.123e-06 4.485e-05 3.251e-05 92438540 OR1A2 . GRCh38 chr17 3198243 3198243 + Missense_Mutation SNP C C T novel 7316-2152 BS_1034EC8V C C c.725C>T p.Ser242Phe p.S242F ENST00000381951 1/1 90 67 21 39 39 0 OR1A2,missense_variant,p.Ser242Phe,ENST00000381951,NM_012352.2; T ENSG00000172150 ENST00000381951 Transcript missense_variant 725/930 725/930 242/309 S/F tCc/tTc 1 1 OR1A2 HGNC HGNC:8180 protein_coding YES CCDS11021.1 ENSP00000371377 Q9Y585 A0A126GVH4 UPI0000041E56 NM_012352.2 deleterious(0) benign(0.269) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF319,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245 MODERATE 1 SNV PASS TCC . . 3198243 SPNS3 . GRCh38 chr17 4439652 4439652 + Splice_Region SNP C T T novel 7316-2152 BS_1034EC8V C C c.200-6C>T ENST00000355530 58 2 56 49 48 0 SPNS3,splice_region_variant,,ENST00000355530,NM_001320449.1,NM_182538.4;SPNS3,splice_region_variant,,ENST00000576069,;SPNS3,splice_region_variant,,ENST00000575194,; T ENSG00000182557 ENST00000355530 Transcript splice_region_variant,intron_variant 1 1 SPNS3 HGNC HGNC:28433 protein_coding YES CCDS11045.1 ENSP00000347721 Q6ZMD2 UPI00001971EC NM_001320449.1,NM_182538.4 1/11 LOW 1 SNV 2 PASS TCT . . 4439652 TP53 . GRCh38 chr17 7675088 7675088 + Missense_Mutation SNP C C T rs28934578 7316-2152 BS_1034EC8V C C c.524G>A p.Arg175His p.R175H ENST00000269305 5/11 80 26 52 33 33 0 TP53,missense_variant,p.Arg175His,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg175His,ENST00000420246,;TP53,missense_variant,p.Arg136His,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg136His,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg175His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg136His,ENST00000610538,;TP53,missense_variant,p.Arg175His,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,missense_variant,p.Arg136His,ENST00000620739,;TP53,missense_variant,p.Arg175His,ENST00000445888,;TP53,missense_variant,p.Arg136His,ENST00000619485,;TP53,missense_variant,p.Arg43His,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,missense_variant,p.Arg16His,ENST00000618944,;TP53,missense_variant,p.Arg43His,ENST00000504290,;TP53,missense_variant,p.Arg16His,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,missense_variant,p.Arg43His,ENST00000504937,;TP53,missense_variant,p.Arg16His,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,missense_variant,p.Arg175His,ENST00000359597,;TP53,missense_variant,p.Arg164His,ENST00000615910,;TP53,missense_variant,p.Arg175His,ENST00000413465,;TP53,missense_variant,p.Arg43His,ENST00000509690,;TP53,missense_variant,p.Arg82His,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.Arg136His,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,; T ENSG00000141510 ENST00000269305 Transcript missense_variant 714/2579 524/1182 175/393 R/H cGc/cAc CM951224,CM062017,TP53_g.12512G>A,rs28934578,COSM99914,COSM99024,COSM99023,COSM99022,COSM45416,COSM4336268,COSM4271918,COSM3355994,COSM2744851,COSM2744850,COSM2744849,COSM2744848,COSM2744847,COSM2744846,COSM1679512,COSM1679511,COSM1679510,COSM1679509,COSM1679508,COSM1640851,COSM10718,COSM10648 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 tolerated(0.11) benign(0.319) 5/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 not_provided,likely_pathogenic,pathogenic 0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 25105660,26900293,21264207,17606709,18511570,23161690,24929325,8825920,9047394,15977174,28163917,25404506 MODERATE 1 SNV 1 1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS GCG . . 4.064e-06 8.965e-06 7675088 PER1 . GRCh38 chr17 8150434 8150434 + Missense_Mutation SNP C C G 7316-2152 BS_1034EC8V C C c.273G>C p.Lys91Asn p.K91N ENST00000317276 2/23 81 40 36 53 49 0 PER1,missense_variant,p.Lys91Asn,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Lys91Asn,ENST00000581082,;PER1,missense_variant,p.Lys75Asn,ENST00000354903,;PER1,missense_variant,p.Lys91Asn,ENST00000577253,;PER1,missense_variant,p.Lys91Asn,ENST00000584202,;PER1,missense_variant,p.Lys91Asn,ENST00000581703,;AC129492.3,downstream_gene_variant,,ENST00000498285,;PER1,upstream_gene_variant,,ENST00000583559,;PER1,upstream_gene_variant,,ENST00000578089,;PER1,missense_variant,p.Lys91Asn,ENST00000582719,;PER1,missense_variant,p.Lys91Asn,ENST00000581395,;PER1,splice_region_variant,,ENST00000579065,;PER1,upstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000579203,;PER1,upstream_gene_variant,,ENST00000585095,; G ENSG00000179094 ENST00000317276 Transcript missense_variant,splice_region_variant 511/4707 273/3873 91/1290 K/N aaG/aaC COSM6496080 1 -1 PER1 HGNC HGNC:8845 protein_coding YES CCDS11131.1 ENSP00000314420 O15534 UPI000013FFF5 NM_002616.2 deleterious(0) probably_damaging(0.997) 2/23 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11269:SF8,hmmpanther:PTHR11269 1 MODERATE 1 SNV 1 1 1 PASS TCT . . 8150434 PER1 . GRCh38 chr17 8150454 8150454 + Missense_Mutation SNP C C T novel 7316-2152 BS_1034EC8V C C c.253G>A p.Glu85Lys p.E85K ENST00000317276 2/23 81 42 35 55 55 0 PER1,missense_variant,p.Glu85Lys,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Glu85Lys,ENST00000581082,;PER1,missense_variant,p.Glu69Lys,ENST00000354903,;PER1,missense_variant,p.Glu85Lys,ENST00000577253,;PER1,missense_variant,p.Glu85Lys,ENST00000584202,;PER1,missense_variant,p.Glu85Lys,ENST00000581703,;AC129492.3,downstream_gene_variant,,ENST00000498285,;PER1,upstream_gene_variant,,ENST00000583559,;PER1,upstream_gene_variant,,ENST00000578089,;PER1,missense_variant,p.Glu85Lys,ENST00000582719,;PER1,missense_variant,p.Glu85Lys,ENST00000581395,;PER1,non_coding_transcript_exon_variant,,ENST00000579065,;PER1,upstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000579203,;PER1,upstream_gene_variant,,ENST00000585095,; T ENSG00000179094 ENST00000317276 Transcript missense_variant 491/4707 253/3873 85/1290 E/K Gag/Aag 1 -1 PER1 HGNC HGNC:8845 protein_coding YES CCDS11131.1 ENSP00000314420 O15534 UPI000013FFF5 NM_002616.2 deleterious(0.01) benign(0.115) 2/23 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11269:SF8,hmmpanther:PTHR11269 MODERATE 1 SNV 1 1 PASS TCC . . 8150454 PER1 . GRCh38 chr17 8150682 8150682 + Missense_Mutation SNP C C G novel 7316-2152 BS_1034EC8V C C c.25G>C p.Asp9His p.D9H ENST00000317276 2/23 67 39 27 32 32 0 PER1,missense_variant,p.Asp9His,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Asp9His,ENST00000581082,;PER1,missense_variant,p.Asp9His,ENST00000577253,;PER1,missense_variant,p.Asp9His,ENST00000584202,;PER1,intron_variant,,ENST00000354903,;PER1,intron_variant,,ENST00000581703,;AC129492.3,downstream_gene_variant,,ENST00000498285,;PER1,upstream_gene_variant,,ENST00000583559,;PER1,upstream_gene_variant,,ENST00000578089,;PER1,missense_variant,p.Asp9His,ENST00000582719,;PER1,missense_variant,p.Asp9His,ENST00000581395,;PER1,non_coding_transcript_exon_variant,,ENST00000579065,;PER1,upstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000579203,;PER1,upstream_gene_variant,,ENST00000585095,; G ENSG00000179094 ENST00000317276 Transcript missense_variant 263/4707 25/3873 9/1290 D/H Gat/Cat 1 -1 PER1 HGNC HGNC:8845 protein_coding YES CCDS11131.1 ENSP00000314420 O15534 UPI000013FFF5 NM_002616.2 deleterious_low_confidence(0.05) benign(0) 2/23 mobidb-lite,hmmpanther:PTHR11269:SF8,hmmpanther:PTHR11269 MODERATE 1 SNV 1 1 PASS TCA . . 8150682 KCNH6 . GRCh38 chr17 63535915 63535915 + Missense_Mutation SNP G G A rs369961665 7316-2152 BS_1034EC8V G G c.1348G>A p.Gly450Ser p.G450S ENST00000583023 6/14 64 42 20 50 49 0 KCNH6,missense_variant,p.Gly450Ser,ENST00000583023,NM_030779.3;KCNH6,missense_variant,p.Gly450Ser,ENST00000314672,NM_001278919.1,NM_001278920.1;KCNH6,missense_variant,p.Gly450Ser,ENST00000580652,;KCNH6,intron_variant,,ENST00000456941,;KCNH6,intron_variant,,ENST00000581784,NM_173092.2;KCNH6,3_prime_UTR_variant,,ENST00000583465,; A ENSG00000173826 ENST00000583023 Transcript missense_variant 1359/3821 1348/2985 450/994 G/S Ggc/Agc rs369961665,COSM2795164 1 1 KCNH6 HGNC HGNC:18862 protein_coding YES CCDS11638.1 ENSP00000463533 Q9H252 UPI000012DCAB NM_030779.3 tolerated(0.58) benign(0.013) 6/14 Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF468 0.000227 0,1 MODERATE 1 SNV 1 0,1 PASS CGG . . 2.032e-05 8.934e-05 1.793e-05 63535915 NPC1 . GRCh38 chr18 23572108 23572108 + Missense_Mutation SNP C C G novel 7316-2152 BS_1034EC8V C C c.253G>C p.Asp85His p.D85H ENST00000269228 3/25 122 50 69 52 52 0 NPC1,missense_variant,p.Asp85His,ENST00000269228,NM_000271.4;NPC1,intron_variant,,ENST00000540608,;NPC1,downstream_gene_variant,,ENST00000587223,; G ENSG00000141458 ENST00000269228 Transcript missense_variant 808/5157 253/3837 85/1278 D/H Gac/Cac 1 -1 NPC1 HGNC HGNC:7897 protein_coding YES CCDS11878.1 ENSP00000269228 O15118 UPI000013D80F NM_000271.4 tolerated(0.11) benign(0.155) 3/25 hmmpanther:PTHR10796:SF116,hmmpanther:PTHR10796,TIGRFAM_domain:TIGR00917,Pfam_domain:PF16414 MODERATE 1 SNV 1 1 PASS TCT . . 23572108 LRG1 . GRCh38 chr19 4538161 4538161 + Missense_Mutation SNP C C T rs373305310 7316-2152 BS_1034EC8V C C c.823G>A p.Val275Met p.V275M ENST00000306390 2/2 76 37 39 41 41 0 LRG1,missense_variant,p.Val275Met,ENST00000306390,NM_052972.2;PLIN5,upstream_gene_variant,,ENST00000381848,NM_001013706.2;PLIN5,upstream_gene_variant,,ENST00000586133,;SEMA6B,downstream_gene_variant,,ENST00000586582,NM_032108.3;SEMA6B,downstream_gene_variant,,ENST00000586965,;PLIN5,upstream_gene_variant,,ENST00000592610,;LRG1,downstream_gene_variant,,ENST00000586883,;PLIN5,upstream_gene_variant,,ENST00000588887,;AC011498.4,intron_variant,,ENST00000586020,;PLIN5,upstream_gene_variant,,ENST00000590350,;,regulatory_region_variant,,ENSR00000106222,; T ENSG00000171236 ENST00000306390 Transcript missense_variant 1284/3036 823/1044 275/347 V/M Gtg/Atg rs373305310,COSM75276 1 -1 LRG1 HGNC HGNC:29480 protein_coding YES CCDS12130.1 ENSP00000302621 P02750 UPI0000125014 NM_052972.2 deleterious(0.03) possibly_damaging(0.726) 2/2 PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF172,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058 0.0002326 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 6.502e-05 0.0001962 0.0001075 0.0001823 4538161 MUC16 . GRCh38 chr19 8953208 8953208 + Missense_Mutation SNP T T A rs980478778 7316-2152 BS_1034EC8V T T c.23562A>T p.Lys7854Asn p.K7854N ENST00000397910 3/84 95 63 30 42 41 0 MUC16,missense_variant,p.Lys7854Asn,ENST00000397910,NM_024690.2; A ENSG00000181143 ENST00000397910 Transcript missense_variant 23766/43816 23562/43524 7854/14507 K/N aaA/aaT rs980478778 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0.041) 3/84 hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 MODERATE 1 SNV 5 1 PASS CTT . . 8953208 ZNF317 . GRCh38 chr19 9161408 9161408 + Nonsense_Mutation SNP C C G novel 7316-2152 BS_1034EC8V C C c.1763C>G p.Ser588Ter p.S588* ENST00000247956 7/7 87 60 25 38 38 0 ZNF317,stop_gained,p.Ser588Ter,ENST00000247956,NM_020933.4;ZNF317,stop_gained,p.Ser556Ter,ENST00000360385,NM_001190791.1;ZNF317,intron_variant,,ENST00000591508,;ZNF317,3_prime_UTR_variant,,ENST00000591278,;ZNF317,non_coding_transcript_exon_variant,,ENST00000590152,;ZNF317,downstream_gene_variant,,ENST00000419608,; G ENSG00000130803 ENST00000247956 Transcript stop_gained 2068/4073 1763/1788 588/595 S/* tCa/tGa 1 1 ZNF317 HGNC HGNC:13507 protein_coding YES CCDS12210.1 ENSP00000247956 Q96PQ6 A0A024R7B1 UPI0000366D00 NM_020933.4 7/7 hmmpanther:PTHR24377:SF22,hmmpanther:PTHR24377,Gene3D:3.30.40.10 HIGH 1 SNV 1 PASS TCA . . 9161408 SIGLEC7 . GRCh38 chr19 51142568 51142568 + Missense_Mutation SNP C C T rs893781414 7316-2152 BS_1034EC8V C C c.199C>T p.Arg67Trp p.R67W ENST00000317643 1/7 53 33 19 39 38 0 SIGLEC7,missense_variant,p.Arg67Trp,ENST00000317643,NM_014385.3;SIGLEC7,missense_variant,p.Arg67Trp,ENST00000305628,NM_016543.3;SIGLEC7,missense_variant,p.Arg67Trp,ENST00000601682,;SIGLEC7,missense_variant,p.Arg67Trp,ENST00000600577,NM_001277201.1;SIGLEC7,missense_variant,p.Arg67Trp,ENST00000536156,;SIGLEC7,upstream_gene_variant,,ENST00000599250,;,regulatory_region_variant,,ENSR00000111142,;AC063977.1,upstream_gene_variant,,ENST00000600623,;AC063977.2,downstream_gene_variant,,ENST00000601996,; T ENSG00000168995 ENST00000317643 Transcript missense_variant 268/1754 199/1404 67/467 R/W Cgg/Tgg rs893781414,COSM2755800 1 1 SIGLEC7 HGNC HGNC:10876 protein_coding YES CCDS12826.1 ENSP00000323328 Q9Y286 UPI000011B40B NM_014385.3 tolerated(0.09) possibly_damaging(0.524) 1/7 Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF101,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05712 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 51142568 C20orf96 . GRCh38 chr20 290259 290259 + Splice_Region SNP C C T rs751193124 7316-2152 BS_1034EC8V C C c.69G>A p.Pro23= p.P23= ENST00000360321 2/11 63 24 33 47 46 0 C20orf96,missense_variant,p.Val28Met,ENST00000382369,;C20orf96,splice_region_variant,p.Pro22=,ENST00000400269,NM_080571.1;C20orf96,splice_region_variant,p.Pro23=,ENST00000360321,NM_153269.2;,regulatory_region_variant,,ENSR00000133394,; T ENSG00000196476 ENST00000360321 Transcript splice_region_variant,synonymous_variant 208/1575 69/1092 23/363 P ccG/ccA rs751193124 1 -1 C20orf96 HGNC HGNC:16227 protein_coding YES CCDS12994.1 ENSP00000353470 Q9NUD7 UPI00001285F1 NM_153269.2 2/11 hmmpanther:PTHR28574 LOW 1 SNV 1 PASS CCG . . 1.652e-05 3.002e-05 1.824e-05 0.0001848 290259 SPO11 . GRCh38 chr20 57334051 57334051 + Missense_Mutation SNP G G C novel 7316-2152 BS_1034EC8V G G c.466G>C p.Asp156His p.D156H ENST00000371263 5/13 141 71 61 52 52 0 SPO11,missense_variant,p.Asp156His,ENST00000371263,NM_012444.2;SPO11,missense_variant,p.Asp118His,ENST00000345868,NM_198265.1;SPO11,missense_variant,p.Asp118His,ENST00000371260,;SPO11,missense_variant,p.Asp134His,ENST00000418127,;SPO11,upstream_gene_variant,,ENST00000494972,; C ENSG00000054796 ENST00000371263 Transcript missense_variant 575/1834 466/1191 156/396 D/H Gac/Cac 1 1 SPO11 HGNC HGNC:11250 protein_coding YES CCDS13456.1 ENSP00000360310 Q9Y5K1 UPI0000135E5E NM_012444.2 deleterious(0) probably_damaging(0.988) 5/13 Gene3D:1.10.10.10,Pfam_domain:PF04406,Prints_domain:PR01550,Prints_domain:PR01551,hmmpanther:PTHR10848,hmmpanther:PTHR10848:SF0,Superfamily_domains:SSF56726 MODERATE 1 SNV 1 PASS TGA . . 57334051 FRMD7 . GRCh38 chrX 132078524 132078525 + Frame_Shift_Ins INS - A A novel 7316-2152 BS_1034EC8V - - c.1492dup p.Tyr498LeufsTer15 p.Y498Lfs*15 ENST00000298542 12/12 35 4 26 28 27 0 FRMD7,frameshift_variant,p.Tyr498LeufsTer15,ENST00000298542,NM_194277.2;FRMD7,frameshift_variant,p.Tyr378LeufsTer15,ENST00000370879,;FRMD7,frameshift_variant,p.Tyr483LeufsTer15,ENST00000464296,NM_001306193.1;STK26,downstream_gene_variant,,ENST00000354719,;STK26,downstream_gene_variant,,ENST00000394334,NM_016542.3;STK26,downstream_gene_variant,,ENST00000394335,NM_001042453.1;STK26,downstream_gene_variant,,ENST00000481105,;STK26,downstream_gene_variant,,ENST00000496850,NM_001042452.1; A ENSG00000165694 ENST00000298542 Transcript frameshift_variant 1668-1669/3198 1492-1493/2145 498/714 Y/LX tat/tTat 1 -1 FRMD7 HGNC HGNC:8079 protein_coding YES CCDS35397.1 ENSP00000298542 Q6ZUT3 UPI00001C0AED NM_194277.2 12/12 hmmpanther:PTHR12673:SF112,hmmpanther:PTHR12673 HIGH 1 insertion 1 1 PASS ATA . . 132078524 ERVMER61-1 . GRCh38 chr1 187073023 187073023 + Splice_Region SNP C C T novel 7316-466 BS_DDH5HKJK C C n.802C>T ENST00000643891 2/9 51 27 15 32 29 0 ERVMER61-1,splice_region_variant,,ENST00000643891,;ERVMER61-1,splice_region_variant,,ENST00000609113,;ERVMER61-1,splice_region_variant,,ENST00000645691,;,regulatory_region_variant,,ENSR00000017322,; T ENSG00000230426 ENST00000643891 Transcript splice_region_variant,non_coding_transcript_exon_variant 802/1753 1 1 ERVMER61-1 HGNC HGNC:27919 lincRNA 2/9 LOW 1 SNV PASS ACG . . 187073023 H3F3A . GRCh38 chr1 226064434 226064434 + Missense_Mutation SNP A A T rs1057519903 7316-466 BS_DDH5HKJK A A c.83A>T p.Lys28Met p.K28M ENST00000366813 1/3 61 33 26 26 26 0 H3F3A,missense_variant,p.Lys28Met,ENST00000366814,;H3F3A,missense_variant,p.Lys28Met,ENST00000366813,;H3F3A,missense_variant,p.Lys28Met,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Lys28Met,ENST00000366816,;AL512343.2,upstream_gene_variant,,ENST00000609423,;,regulatory_region_variant,,ENSR00000021067,; T ENSG00000163041 ENST00000366813 Transcript missense_variant 458/1308 83/411 28/136 K/M aAg/aTg rs1057519903,COSM327928,COSM1961654 1 1 H3F3A HGNC HGNC:4764 protein_coding YES CCDS1550.1 ENSP00000355778 P84243 B2R4P9 UPI00000007B0 deleterious_low_confidence(0.01) possibly_damaging(0.697) 1/3 Gene3D:1.10.20.10,PDB-ENSP_mappings:3av2.A,PDB-ENSP_mappings:3av2.E,PDB-ENSP_mappings:3muk.D,PDB-ENSP_mappings:3wtp.E,PDB-ENSP_mappings:4h9n.A,PDB-ENSP_mappings:4h9o.A,PDB-ENSP_mappings:4h9p.A,PDB-ENSP_mappings:4h9q.A,PDB-ENSP_mappings:4h9r.A,PDB-ENSP_mappings:4h9s.A,PDB-ENSP_mappings:4h9s.B,PDB-ENSP_mappings:4hga.B,PDB-ENSP_mappings:4n4i.B,PDB-ENSP_mappings:5ay8.A,PDB-ENSP_mappings:5ay8.E,PDB-ENSP_mappings:5b32.A,PDB-ENSP_mappings:5b32.E,PDB-ENSP_mappings:5b33.A,PDB-ENSP_mappings:5b33.E,PDB-ENSP_mappings:5dwq.F,PDB-ENSP_mappings:5dwq.G,PDB-ENSP_mappings:5dx0.F,PDB-ENSP_mappings:5dx0.G,PDB-ENSP_mappings:5dx0.H,PDB-ENSP_mappings:5dx0.I,PDB-ENSP_mappings:5kdm.A,PDB-ENSP_mappings:5x7x.A,PDB-ENSP_mappings:5x7x.E,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Superfamily_domains:SSF47113,mobidb-lite likely_pathogenic 1,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS AAG . . 226064434 HDAC4 . GRCh38 chr2 239111622 239111622 + Missense_Mutation SNP C C T rs762919936 7316-466 BS_DDH5HKJK C C c.1867G>A p.Gly623Ser p.G623S ENST00000345617 14/27 74 54 18 36 35 0 HDAC4,missense_variant,p.Gly511Ser,ENST00000543185,;HDAC4,missense_variant,p.Gly623Ser,ENST00000345617,NM_006037.3;HDAC4,non_coding_transcript_exon_variant,,ENST00000493582,;HDAC4,non_coding_transcript_exon_variant,,ENST00000463007,;HDAC4,non_coding_transcript_exon_variant,,ENST00000535493,;HDAC4,upstream_gene_variant,,ENST00000460235,;HDAC4,upstream_gene_variant,,ENST00000487617,; T ENSG00000068024 ENST00000345617 Transcript missense_variant 2659/8976 1867/3255 623/1084 G/S Ggc/Agc rs762919936,COSM3839025,COSM1209378 1 -1 HDAC4 HGNC HGNC:14063 protein_coding YES CCDS2529.1 ENSP00000264606 P56524 UPI000013D541 NM_006037.3 tolerated(0.22) benign(0.009) 14/27 hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF100,PIRSF_domain:PIRSF037911 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CCG . . 2.14e-05 3.017e-05 2.86e-05 3.346e-05 239111622 XCR1 . GRCh38 chr3 46021122 46021122 + Missense_Mutation SNP C C T rs1426821116 7316-466 BS_DDH5HKJK C C c.826G>A p.Ala276Thr p.A276T ENST00000309285 2/2 53 26 25 33 33 0 XCR1,missense_variant,p.Ala276Thr,ENST00000309285,NM_001024644.1,NM_005283.2;XCR1,downstream_gene_variant,,ENST00000395946,;NRBF2P2,upstream_gene_variant,,ENST00000413087,; T ENSG00000173578 ENST00000309285 Transcript missense_variant 1183/5281 826/1002 276/333 A/T Gcc/Acc rs1426821116 1 -1 XCR1 HGNC HGNC:1625 protein_coding YES CCDS2736.1 ENSP00000310405 P46094 UPI000004358D NM_001024644.1,NM_005283.2 deleterious(0) probably_damaging(0.999) 2/2 PROSITE_profiles:PS50262,cd15182,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF730,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237 MODERATE 1 SNV 1 PASS GCG . . 4.061e-06 8.954e-06 46021122 DSPP . GRCh38 chr4 87615777 87615785 + In_Frame_Del DEL AGCAGCGAT AGCAGCGAT - rs763791363 7316-466 BS_DDH5HKJK AGCAGCGAT AGCAGCGAT c.3120_3128del p.Asp1053_Ser1055del p.D1053_S1055del ENST00000399271 5/5 99 90 7 59 57 0 DSPP,inframe_deletion,p.Asp1053_Ser1055del,ENST00000399271,NM_014208.3;DSPP,inframe_deletion,p.Asp1053_Ser1055del,ENST00000282478,;AC093895.1,intron_variant,,ENST00000506480,; - ENSG00000152591 ENST00000399271 Transcript inframe_deletion 3235-3243/4331 3115-3123/3906 1039-1041/1301 SSD/- AGCAGCGAT/- rs763791363,COSM5826289 1 1 DSPP HGNC HGNC:3054 protein_coding YES CCDS43248.1 ENSP00000382213 Q9NZW4 UPI00006BFF57 NM_014208.3 5/5 Low_complexity_(Seg):seg,mobidb-lite 0,1 MODERATE deletion 5 5 0,1 1 PASS ACAGCAGCGATA . . 4.591e-05 4.755e-05 0.0001136 6.242e-05 4.82e-05 87615776 ZNF316 . GRCh38 chr7 6642473 6642473 + Missense_Mutation SNP T T G rs1289650909 7316-466 BS_DDH5HKJK T T c.64T>G p.Ser22Ala p.S22A ENST00000382252 5/9 70 56 7 34 30 2 ZNF316,missense_variant,p.Ser22Ala,ENST00000382252,NM_001278559.1;ZNF316,intron_variant,,ENST00000427912,;ZNF316,downstream_gene_variant,,ENST00000614588,; G ENSG00000205903 ENST00000382252 Transcript missense_variant 620/5392 64/3015 22/1004 S/A Tca/Gca rs1289650909 1 1 ZNF316 HGNC HGNC:13843 protein_coding YES CCDS75563.1 ENSP00000477706 A6NFI3 UPI0000D61BFB NM_001278559.1 tolerated_low_confidence(0.25) unknown(0) 5/9 hmmpanther:PTHR24408,hmmpanther:PTHR24408:SF17,mobidb-lite MODERATE 1 SNV 5 PASS GTC . . 6642473 RP1L1 . GRCh38 chr8 10607886 10607886 + Missense_Mutation SNP A A G rs769410635 7316-466 BS_DDH5HKJK A A c.6212T>C p.Val2071Ala p.V2071A ENST00000382483 4/4 51 38 7 34 30 1 RP1L1,missense_variant,p.Val2071Ala,ENST00000382483,NM_178857.5; G ENSG00000183638 ENST00000382483 Transcript missense_variant 6436/7973 6212/7203 2071/2400 V/A gTc/gCc rs769410635,COSM6302486 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(0.88) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005,hmmpanther:PTHR23005 0,1 MODERATE 1 SNV 1 0,1 1 PASS GAC . . 10607886 PABPC1 . GRCh38 chr8 100706704 100706704 + Missense_Mutation SNP C C G rs62513920 7316-466 BS_DDH5HKJK C C c.1549G>C p.Val517Leu p.V517L ENST00000318607 11/15 82 67 13 36 34 0 PABPC1,missense_variant,p.Val517Leu,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Val472Leu,ENST00000519004,;PABPC1,missense_variant,p.Val485Leu,ENST00000522387,;PABPC1,missense_variant,p.Val50Leu,ENST00000520868,;PABPC1,missense_variant,p.Val64Leu,ENST00000522658,;PABPC1,missense_variant,p.Val170Leu,ENST00000517403,;PABPC1,missense_variant,p.Val26Leu,ENST00000517990,;PABPC1,intron_variant,,ENST00000610907,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,downstream_gene_variant,,ENST00000519100,;MIR7705,upstream_gene_variant,,ENST00000614758,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519596,;PABPC1,non_coding_transcript_exon_variant,,ENST00000518716,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519848,;PABPC1,intron_variant,,ENST00000523636,;PABPC1,downstream_gene_variant,,ENST00000519622,; G ENSG00000070756 ENST00000318607 Transcript missense_variant 2678/3485 1549/1911 517/636 V/L Gtt/Ctt rs62513920,COSM4162556 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 tolerated(0.08) benign(0) 11/15 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,Superfamily_domains:SSF63570,TIGRFAM_domain:TIGR01628 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACT . . 0.1349 0.08452 0.1358 0.2456 0.09024 0.08509 0.1207 0.1573 0.2288 100706704 PABPC1 . GRCh38 chr8 100706737 100706737 + Missense_Mutation SNP G G A rs62513921 7316-466 BS_DDH5HKJK G G c.1516C>T p.Arg506Cys p.R506C ENST00000318607 11/15 88 71 12 36 36 0 PABPC1,missense_variant,p.Arg506Cys,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Arg461Cys,ENST00000519004,;PABPC1,missense_variant,p.Arg474Cys,ENST00000522387,;PABPC1,missense_variant,p.Arg39Cys,ENST00000520868,;PABPC1,missense_variant,p.Arg53Cys,ENST00000522658,;PABPC1,missense_variant,p.Arg159Cys,ENST00000517403,;PABPC1,missense_variant,p.Arg15Cys,ENST00000517990,;PABPC1,intron_variant,,ENST00000610907,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,downstream_gene_variant,,ENST00000519100,;MIR7705,upstream_gene_variant,,ENST00000614758,;PABPC1,intron_variant,,ENST00000519596,;PABPC1,non_coding_transcript_exon_variant,,ENST00000518716,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519848,;PABPC1,intron_variant,,ENST00000523636,;PABPC1,downstream_gene_variant,,ENST00000519622,; A ENSG00000070756 ENST00000318607 Transcript missense_variant 2645/3485 1516/1911 506/636 R/C Cgc/Tgc rs62513921,COSM3774307 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 tolerated(0.1) possibly_damaging(0.556) 11/15 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,Superfamily_domains:SSF63570,TIGRFAM_domain:TIGR01628,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGG . . 0.2376 0.2304 0.1823 0.2986 0.1843 0.2059 0.2513 0.228 0.2959 100706737 PABPC1 . GRCh38 chr8 100706740 100706740 + Missense_Mutation SNP C C T rs62513922 7316-466 BS_DDH5HKJK C C c.1513G>A p.Val505Ile p.V505I ENST00000318607 11/15 90 75 13 36 36 0 PABPC1,missense_variant,p.Val505Ile,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Val460Ile,ENST00000519004,;PABPC1,missense_variant,p.Val473Ile,ENST00000522387,;PABPC1,missense_variant,p.Val38Ile,ENST00000520868,;PABPC1,missense_variant,p.Val52Ile,ENST00000522658,;PABPC1,missense_variant,p.Val158Ile,ENST00000517403,;PABPC1,missense_variant,p.Val14Ile,ENST00000517990,;PABPC1,intron_variant,,ENST00000610907,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,downstream_gene_variant,,ENST00000519100,;MIR7705,upstream_gene_variant,,ENST00000614758,;PABPC1,intron_variant,,ENST00000519596,;PABPC1,non_coding_transcript_exon_variant,,ENST00000518716,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519848,;PABPC1,intron_variant,,ENST00000523636,;PABPC1,downstream_gene_variant,,ENST00000519622,; T ENSG00000070756 ENST00000318607 Transcript missense_variant 2642/3485 1513/1911 505/636 V/I Gtc/Atc rs62513922,COSM3774308 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 tolerated(0.31) benign(0.006) 11/15 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,Superfamily_domains:SSF63570,TIGRFAM_domain:TIGR01628,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACA . . 0.2303 0.2229 0.1773 0.2921 0.1764 0.1998 0.2436 0.2245 0.2874 100706740 PABPC1 . GRCh38 chr8 100706776 100706776 + Missense_Mutation SNP G G A rs62513924 7316-466 BS_DDH5HKJK G G c.1477C>T p.Arg493Cys p.R493C ENST00000318607 11/15 78 60 12 36 35 0 PABPC1,missense_variant,p.Arg493Cys,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Arg448Cys,ENST00000519004,;PABPC1,missense_variant,p.Arg461Cys,ENST00000522387,;PABPC1,missense_variant,p.Arg26Cys,ENST00000520868,;PABPC1,missense_variant,p.Arg40Cys,ENST00000522658,;PABPC1,missense_variant,p.Arg146Cys,ENST00000517403,;PABPC1,missense_variant,p.Arg2Cys,ENST00000517990,;PABPC1,intron_variant,,ENST00000610907,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,downstream_gene_variant,,ENST00000519100,;MIR7705,upstream_gene_variant,,ENST00000614758,;PABPC1,intron_variant,,ENST00000519596,;PABPC1,non_coding_transcript_exon_variant,,ENST00000518716,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519848,;PABPC1,intron_variant,,ENST00000523636,;PABPC1,downstream_gene_variant,,ENST00000519622,; A ENSG00000070756 ENST00000318607 Transcript missense_variant 2606/3485 1477/1911 493/636 R/C Cgt/Tgt rs62513924,COSM3774309 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 tolerated(0.08) benign(0.302) 11/15 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,TIGRFAM_domain:TIGR01628,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGT . . 0.1365 0.1466 0.1008 0.186 0.104 0.09407 0.1461 0.1381 0.1754 100706776 ATAD2 . GRCh38 chr8 123371718 123371718 + Missense_Mutation SNP C C T rs756243742 7316-466 BS_DDH5HKJK C C c.488G>A p.Arg163His p.R163H ENST00000287394 4/28 76 44 32 26 26 0 ATAD2,missense_variant,p.Arg163His,ENST00000287394,NM_014109.3;ATAD2,5_prime_UTR_variant,,ENST00000521903,;ATAD2,upstream_gene_variant,,ENST00000534257,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,;ATAD2,downstream_gene_variant,,ENST00000530065,; T ENSG00000156802 ENST00000287394 Transcript missense_variant 596/5565 488/4173 163/1390 R/H cGt/cAt rs756243742,COSM3785863 1 -1 ATAD2 HGNC HGNC:30123 protein_coding YES CCDS6343.1 ENSP00000287394 Q6PL18 A0A024R9G7 UPI0000052A8C NM_014109.3 deleterious(0.04) probably_damaging(0.956) 4/28 Gene3D:1.10.601.10,hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF4 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 4.074e-06 2.997e-05 123371718 PRSS3 . GRCh38 chr9 33796705 33796705 + Missense_Mutation SNP C C G rs149026348 7316-466 BS_DDH5HKJK C C c.274C>G p.Leu92Val p.L92V ENST00000361005 2/5 64 55 9 30 29 0 PRSS3,missense_variant,p.Leu49Val,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Leu92Val,ENST00000361005,NM_007343.3;PRSS3,missense_variant,p.Leu35Val,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Leu28Val,ENST00000429677,NM_001197098.1;PRSS3,missense_variant,p.Leu47Val,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00000334924,; G ENSG00000010438 ENST00000361005 Transcript missense_variant 274/966 274/915 92/304 L/V Ctc/Gtc rs149026348,COSM4381953,COSM4381954,COSM4381955,COSM4381956 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 tolerated(1) benign(0.02) 2/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS TCT . . 33796705 PRSS3 . GRCh38 chr9 33797933 33797934 + Frame_Shift_Del DEL AC AC - rs797012348 7316-466 BS_DDH5HKJK AC AC c.478_479del p.Thr160SerfsTer4 p.T160Sfs*4 ENST00000361005 3/5 70 56 5 34 32 0 PRSS3,frameshift_variant,p.Thr117SerfsTer4,ENST00000342836,NM_001197097.2;PRSS3,frameshift_variant,p.Thr160SerfsTer4,ENST00000361005,NM_007343.3;PRSS3,frameshift_variant,p.Thr103SerfsTer4,ENST00000379405,NM_002771.3;PRSS3,frameshift_variant,p.Thr96SerfsTer4,ENST00000429677,NM_001197098.1;PRSS3,frameshift_variant,p.Thr115SerfsTer4,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,non_coding_transcript_exon_variant,,ENST00000477653,;PRSS3,downstream_gene_variant,,ENST00000468152,;PRSS3,upstream_gene_variant,,ENST00000495682,; - ENSG00000010438 ENST00000361005 Transcript frameshift_variant 476-477/966 476-477/915 159/304 D/X gAC/g rs797012348,COSM4381135,COSM4381136,COSM4381137,COSM4381138 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 3/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 0,1,1,1,1 HIGH 1 deletion 1 2 0,1,1,1,1 PASS GGACA . . 33797932 CCNYL2 . GRCh38 chr10 42451605 42451605 + Splice_Region SNP T T A novel 7316-466 BS_DDH5HKJK T T n.698+4A>T ENST00000637719 72 29 38 31 31 0 CCNYL2,splice_region_variant,,ENST00000637719,;CCNYL2,splice_region_variant,,ENST00000638057,;CCNYL2,splice_region_variant,,ENST00000472090,; A ENSG00000182632 ENST00000637719 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 CCNYL2 HGNC HGNC:23495 processed_transcript YES 3/8 LOW 1 SNV 2 PASS CTC . . 42451605 FAM86C1 . GRCh38 chr11 71793487 71793489 + Splice_Region DEL AGA AGA - rs144566430 7316-466 BS_DDH5HKJK AGA AGA c.261+8_261+10del ENST00000359244 72 61 5 26 26 0 FAM86C1,splice_region_variant,,ENST00000359244,NM_018172.2;FAM86C1,intron_variant,,ENST00000346333,NM_152563.2;FAM86C1,intron_variant,,ENST00000426628,NM_001099653.1;AP002495.1,downstream_gene_variant,,ENST00000511954,;AP002495.1,downstream_gene_variant,,ENST00000524714,;FAM86C1,splice_region_variant,,ENST00000526393,;FAM86C1,intron_variant,,ENST00000510443,;FAM86C1,intron_variant,,ENST00000528685,; - ENSG00000158483 ENST00000359244 Transcript splice_region_variant,intron_variant rs144566430 1 1 FAM86C1 HGNC HGNC:25561 protein_coding YES CCDS41686.1 ENSP00000352182 Q9NVL1 UPI000013DF79 NM_018172.2 3/4 0.0391 0.1346 0.0072 0.0079 0.0051 0.1217 0.0006072 LOW 1 deletion 2 2 PASS TGAGAA . . 0.006154 0.09298 0.002609 0.0003093 0.00547 0.0001911 0.002587 0.001176 71793486 TROAP . GRCh38 chr12 49330629 49330629 + Missense_Mutation SNP T T G 7316-466 BS_DDH5HKJK T T c.1784T>G p.Ile595Ser p.I595S ENST00000257909 13/15 73 55 11 29 25 0 TROAP,missense_variant,p.Ile595Ser,ENST00000551245,;TROAP,missense_variant,p.Ile595Ser,ENST00000257909,NM_005480.3;TROAP,intron_variant,,ENST00000547923,;C1QL4,downstream_gene_variant,,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000548817,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000551192,; G ENSG00000135451 ENST00000257909 Transcript missense_variant 1860/2527 1784/2337 595/778 I/S aTt/aGt COSM6302225 1 1 TROAP HGNC HGNC:12327 protein_coding YES CCDS8784.1 ENSP00000257909 Q12815 UPI000007108A NM_005480.3 tolerated_low_confidence(0.99) benign(0) 13/15 hmmpanther:PTHR15289 1 MODERATE 1 SNV 1 1 PASS ATT . . 49330629 PTPN11 . GRCh38 chr12 112489084 112489084 + Missense_Mutation SNP G G T rs397507546 7316-466 BS_DDH5HKJK G G c.1520G>T p.Gly507Val p.G507V ENST00000635625 13/15 81 41 36 34 34 0 PTPN11,missense_variant,p.Gly503Val,ENST00000351677,NM_002834.3,NM_001330437.1;PTPN11,missense_variant,p.Gly507Val,ENST00000635625,;PTPN11,missense_variant,p.Gly174Val,ENST00000635652,;PTPN11,downstream_gene_variant,,ENST00000392597,NM_080601.1; T ENSG00000179295 ENST00000635625 Transcript missense_variant 1520/1794 1520/1794 507/597 G/V gGg/gTg rs397507546,CM1314033,CM115675,CM086897,COSM14271,COSM13027,COSM13021 1 1 PTPN11 HGNC HGNC:9644 protein_coding YES CCDS81741.1 ENSP00000489597 Q06124 UPI000041C017 deleterious(0) probably_damaging(0.999) 13/15 Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000929,Prints_domain:PR00700,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF299,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799,cd00047 likely_pathogenic,pathogenic,other 0,0,0,0,1,1,1 MODERATE 1 SNV 5 1,1,1,1,1,1,1 1 PASS GGG . . 112489084 GZMB . GRCh38 chr14 24632412 24632412 + Missense_Mutation SNP G G A rs1031484813 7316-466 BS_DDH5HKJK G G c.251C>T p.Pro84Leu p.P84L ENST00000216341 3/5 56 33 23 30 30 0 GZMB,missense_variant,p.Pro84Leu,ENST00000216341,NM_004131.4,NM_001346011.1;GZMB,missense_variant,p.Pro72Leu,ENST00000415355,;GZMB,intron_variant,,ENST00000382540,;GZMB,intron_variant,,ENST00000382542,;GZMB,intron_variant,,ENST00000526004,;GZMB,intron_variant,,ENST00000616551,;AL136018.1,intron_variant,,ENST00000555300,;AL136018.1,intron_variant,,ENST00000557736,;GZMB,3_prime_UTR_variant,,ENST00000530830,;GZMB,intron_variant,,ENST00000532263,;GZMB,intron_variant,,ENST00000554242,; A ENSG00000100453 ENST00000216341 Transcript missense_variant 358/968 251/744 84/247 P/L cCg/cTg rs1031484813,COSM6418921,COSM6418920 1 -1 GZMB HGNC HGNC:4709 protein_coding YES CCDS9633.1 ENSP00000216341 P10144 UPI000004E7FD NM_004131.4,NM_001346011.1 deleterious(0.01) benign(0.001) 3/5 PDB-ENSP_mappings:1fq3.A,PDB-ENSP_mappings:1fq3.B,PDB-ENSP_mappings:1iau.A,Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF41,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGG . . 24632412 TRIP4 . GRCh38 chr15 64424097 64424097 + Missense_Mutation SNP A A C novel 7316-466 BS_DDH5HKJK A A c.1425A>C p.Lys475Asn p.K475N ENST00000261884 10/13 79 65 6 40 39 1 TRIP4,missense_variant,p.Lys475Asn,ENST00000261884,NM_001321924.1,NM_016213.4;TRIP4,intron_variant,,ENST00000560475,;TRIP4,upstream_gene_variant,,ENST00000558162,;TRIP4,3_prime_UTR_variant,,ENST00000560567,; C ENSG00000103671 ENST00000261884 Transcript missense_variant 1485/2045 1425/1746 475/581 K/N aaA/aaC 1 1 TRIP4 HGNC HGNC:12310 protein_coding YES CCDS10194.1 ENSP00000261884 Q15650 UPI0000035D96 NM_001321924.1,NM_016213.4 tolerated(0.06) possibly_damaging(0.466) 10/13 PDB-ENSP_mappings:2e5o.A,cd06554,hmmpanther:PTHR12963,hmmpanther:PTHR12963:SF0,Pfam_domain:PF04266,Gene3D:2.30.130.30,SMART_domains:SM01022 MODERATE 1 SNV 1 1 PASS AAC . . 64424097 NF1 . GRCh38 chr17 31201036 31201036 + Splice_Site SNP G G A 7316-466 BS_DDH5HKJK G G c.1063-1G>A p.X355_splice ENST00000358273 71 31 37 40 40 0 NF1,splice_acceptor_variant,,ENST00000356175,NM_000267.3;NF1,splice_acceptor_variant,,ENST00000358273,NM_001042492.2;NF1,splice_acceptor_variant,,ENST00000431387,NM_001128147.2;NF1,splice_acceptor_variant,,ENST00000456735,;NF1,splice_acceptor_variant,,ENST00000487476,;NF1,splice_acceptor_variant,,ENST00000495910,;NF1,splice_acceptor_variant,,ENST00000579081,; A ENSG00000196712 ENST00000358273 Transcript splice_acceptor_variant CS086358,COSM6965369,COSM6910204,COSM6910203,COSM234175 1 1 NF1 HGNC HGNC:7765 protein_coding YES CCDS42292.1 ENSP00000351015 P21359 UPI000012FFAE NM_001042492.2 9/57 0,1,1,1,1 HIGH 1 SNV 1 1,1,1,1,1 1 PASS AGA . . 31201036 NF1 . GRCh38 chr17 31327839 31327839 + Missense_Mutation SNP G G A rs786202112 7316-466 BS_DDH5HKJK G G c.5609G>A p.Arg1870Gln p.R1870Q ENST00000358273 38/58 74 40 34 42 42 0 NF1,missense_variant,p.Arg1870Gln,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Arg1849Gln,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Arg1515Gln,ENST00000456735,;NF1,missense_variant,p.Arg58Gln,ENST00000581113,;NF1,splice_region_variant,,ENST00000579081,;NF1,splice_region_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000479536,;,regulatory_region_variant,,ENSR00000093082,; A ENSG00000196712 ENST00000358273 Transcript missense_variant,splice_region_variant 5992/12425 5609/8520 1870/2839 R/Q cGg/cAg rs786202112,CS000055,CS1311535,CS1311534,COSM977480,COSM977479,COSM6922721,COSM6922720 1 1 NF1 HGNC HGNC:7765 protein_coding YES CCDS42292.1 ENSP00000351015 P21359 UPI000012FFAE NM_001042492.2 deleterious(0) probably_damaging(0.965) 38/58 hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF60,Gene3D:1.25.10.10,Superfamily_domains:SSF48371 pathogenic 0,0,0,0,1,1,1,1 MODERATE 1 SNV 1 1,1,1,1,1,1,1,1 1 PASS CGG . . 31327839 COL1A1 . GRCh38 chr17 50188800 50188801 + Splice_Region DEL AG AG - rs138425306 7316-466 BS_DDH5HKJK AG AG c.3046-6_3046-5del ENST00000225964 41 32 5 34 26 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; - ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant rs138425306,COSM5801725 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 41/50 0,1 LOW 1 deletion 1 0,1 1 PASS GCAGA . . 0.05647 0.0166 0.07575 0.1347 0.03286 0.02705 0.05932 0.06587 0.1328 50188799 LRRC45 . GRCh38 chr17 82030605 82030606 + Splice_Region INS - - TT novel 7316-466 BS_DDH5HKJK - - c.1817-4_1817-3insTT ENST00000306688 44 31 9 13 12 0 LRRC45,splice_region_variant,,ENST00000306688,NM_144999.3;RAC3,upstream_gene_variant,,ENST00000306897,NM_001316307.1,NM_005052.2;DCXR,downstream_gene_variant,,ENST00000577532,;RAC3,upstream_gene_variant,,ENST00000580965,;RAC3,upstream_gene_variant,,ENST00000584341,;AC137723.2,downstream_gene_variant,,ENST00000623540,;LRRC45,splice_region_variant,,ENST00000581227,;LRRC45,downstream_gene_variant,,ENST00000582083,;LRRC45,downstream_gene_variant,,ENST00000583302,;RAC3,upstream_gene_variant,,ENST00000585014,;,regulatory_region_variant,,ENSR00000099522,; TT ENSG00000169683 ENST00000306688 Transcript splice_region_variant,intron_variant 1 1 LRRC45 HGNC HGNC:28302 protein_coding YES CCDS11797.1 ENSP00000306760 Q96CN5 UPI000006EF33 NM_144999.3 16/16 LOW 1 insertion 1 PASS TGC . . 82030605 SCAF1 . GRCh38 chr19 49652105 49652110 + In_Frame_Del DEL CCGCTC CCGCTC - rs3833232 7316-466 BS_DDH5HKJK CCGCTC CCGCTC c.1741_1746del p.Arg581_Ser582del p.R581_S582del ENST00000360565 7/11 33 15 10 10 6 0 SCAF1,inframe_deletion,p.Arg581_Ser582del,ENST00000360565,NM_021228.2;SCAF1,downstream_gene_variant,,ENST00000598359,; - ENSG00000126461 ENST00000360565 Transcript inframe_deletion 1840-1845/4306 1716-1721/3939 572-574/1312 RRS/R cgCCGCTCc/cgc rs3833232,COSM4387053 1 1 SCAF1 HGNC HGNC:30403 protein_coding YES CCDS33074.1 ENSP00000353769 Q9H7N4 UPI0000071891 NM_021228.2 7/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12618,hmmpanther:PTHR12618:SF24,Gene3D:2.40.50.40 0.7179 0.2544 0,1 MODERATE 1 deletion 2 25 0,1 PASS CGCCGCTCC . . 0.1701 0.5263 0.1228 0.1126 0.15 0.1213 0.1693 0.1647 0.2394 49652104 KIR2DL3 . GRCh38 chr19 54742106 54742106 + Missense_Mutation SNP T T A rs78713511 7316-466 BS_DDH5HKJK T T c.197T>A p.Phe66Tyr p.F66Y ENST00000342376 3/8 64 51 10 19 19 0 KIR2DL3,missense_variant,p.Phe66Tyr,ENST00000342376,NM_015868.2;AC245128.1,intron_variant,,ENST00000400864,;,regulatory_region_variant,,ENSR00000111550,; A ENSG00000243772 ENST00000342376 Transcript missense_variant 228/1590 197/1026 66/341 F/Y tTt/tAt rs78713511,COSM5712916,COSM321259 1 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628 E3NZD8 UPI000012DB1C NM_015868.2 tolerated(0.94) benign(0.007) 3/8 Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF124,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05711 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TTT . . 54742106 RFPL4A . GRCh38 chr19 55762780 55762780 + Missense_Mutation SNP G G A novel 7316-466 BS_DDH5HKJK G G c.469G>A p.Val157Met p.V157M ENST00000434937 3/3 54 40 14 37 37 0 RFPL4A,missense_variant,p.Val157Met,ENST00000434937,NM_001145014.1; A ENSG00000223638 ENST00000434937 Transcript missense_variant 640/1035 469/864 157/287 V/M Gtg/Atg 1 1 RFPL4A HGNC HGNC:16449 protein_coding YES CCDS46201.1 ENSP00000392936 A6NLU0 UPI0000D6181F NM_001145014.1 tolerated(0.21) possibly_damaging(0.762) 3/3 PDB-ENSP_mappings:2fbe.A,PDB-ENSP_mappings:2fbe.B,PDB-ENSP_mappings:2fbe.C,PDB-ENSP_mappings:2fbe.D,Gene3D:3.30.40.10,Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF238,SMART_domains:SM00449,Superfamily_domains:SSF49899,cd15821 MODERATE 1 SNV 5 PASS CGT . . 55762780 ZIK1 . GRCh38 chr19 57590425 57590425 + Missense_Mutation SNP G G A rs556272973 7316-466 BS_DDH5HKJK G G c.614G>A p.Arg205His p.R205H ENST00000597850 4/4 81 42 38 39 39 0 ZIK1,missense_variant,p.Arg205His,ENST00000597850,NM_001010879.3;ZIK1,missense_variant,p.Arg192His,ENST00000536878,NM_001321145.1;ZIK1,missense_variant,p.Arg150His,ENST00000599456,NM_001321146.1;ZIK1,3_prime_UTR_variant,,ENST00000307468,;ZIK1,downstream_gene_variant,,ENST00000597219,;ZIK1,downstream_gene_variant,,ENST00000598689,;ZIK1,downstream_gene_variant,,ENST00000600053,;ZIK1,downstream_gene_variant,,ENST00000598726,; A ENSG00000171649 ENST00000597850 Transcript missense_variant 829/4181 614/1464 205/487 R/H cGc/cAc rs556272973,COSM286716 1 1 ZIK1 HGNC HGNC:33104 protein_coding YES CCDS33135.1 ENSP00000472867 Q3SY52 UPI00001609B2 NM_001010879.3 tolerated(1) benign(0) 4/4 Gene3D:3.30.40.10,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF617 0.0002 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 1.219e-05 6.537e-05 6.497e-05 57590425 CT45A9 . GRCh38 chrX 135867898 135867898 + Missense_Mutation SNP T T G rs1233785396 7316-466 BS_DDH5HKJK T T c.164A>C p.Glu55Ala p.E55A ENST00000620704 2/5 35 27 7 23 23 0 CT45A9,missense_variant,p.Glu55Ala,ENST00000620704,NM_001291540.2,NM_001321271.1;CT45A9,missense_variant,p.Glu55Ala,ENST00000604569,; G ENSG00000270946 ENST00000620704 Transcript missense_variant 409/1010 164/570 55/189 E/A gAa/gCa rs1233785396 1 -1 CT45A9 HGNC HGNC:51262 protein_coding YES CCDS76034.1 ENSP00000483637 P0DMV2 UPI000292EE09 NM_001291540.2,NM_001321271.1 tolerated(0.08) benign(0.186) 2/5 hmmpanther:PTHR12957,hmmpanther:PTHR12957:SF22 MODERATE 1 SNV 5 PASS TTC . . 135867898 RERE . GRCh38 chr1 8361391 8361391 + Nonsense_Mutation SNP G A A novel 7316-913 BS_GKRMQS5W G G c.2116C>T p.Gln706Ter p.Q706* ENST00000337907 19/24 62 7 53 37 36 0 RERE,stop_gained,p.Gln706Ter,ENST00000337907,NM_012102.3;RERE,stop_gained,p.Gln438Ter,ENST00000377464,;RERE,stop_gained,p.Gln706Ter,ENST00000400908,NM_001042681.1;RERE,stop_gained,p.Gln152Ter,ENST00000476556,NM_001042682.1;RERE,intron_variant,,ENST00000400907,;RERE,intron_variant,,ENST00000505225,;RERE,downstream_gene_variant,,ENST00000488215,;RERE,downstream_gene_variant,,ENST00000460659,;RERE,downstream_gene_variant,,ENST00000465125,;RERE,downstream_gene_variant,,ENST00000492766,;RERE,downstream_gene_variant,,ENST00000464367,; A ENSG00000142599 ENST00000337907 Transcript stop_gained 2751/8026 2116/4701 706/1566 Q/* Cag/Tag 1 -1 RERE HGNC HGNC:9965 protein_coding YES CCDS95.1 ENSP00000338629 Q9P2R6 A0A024R4E9 UPI00001419CC NM_012102.3 19/24 Pfam_domain:PF03154,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF12,mobidb-lite HIGH 1 SNV 1 1 PASS TGG . . 8361391 TAS1R2 . GRCh38 chr1 18854521 18854521 + Missense_Mutation SNP G C C rs34447754 7316-913 BS_GKRMQS5W G G c.949C>G p.Arg317Gly p.R317G ENST00000375371 3/6 40 2 36 28 21 7 TAS1R2,missense_variant,p.Arg317Gly,ENST00000375371,NM_152232.2;AL080251.1,3_prime_UTR_variant,,ENST00000494072,; C ENSG00000179002 ENST00000375371 Transcript missense_variant 971/2542 949/2520 317/839 R/G Cgc/Ggc rs34447754,COSM3750711 1 -1 TAS1R2 HGNC HGNC:14905 protein_coding YES CCDS187.1 ENSP00000364520 Q8TE23 UPI0000456168 NM_152232.2 tolerated(0.24) benign(0.005) 3/6 cd06363,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF441,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822 0.2382 0.2602 0.2507 0.1032 0.3191 0.2556 0.2488 0.3251 0,1 25537509 MODERATE 1 SNV 2 0,1 PASS CGC . . 0.2851 0.2636 0.2372 0.3327 0.107 0.2946 0.3236 0.3043 0.2828 18854521 SYCP1 . GRCh38 chr1 114994979 114994980 + Frame_Shift_Ins INS - - A rs748774371 7316-913 BS_GKRMQS5W - - c.2901dup p.Leu968ThrfsTer5 p.L968Tfs*5 ENST00000369522 32/32 59 47 7 36 33 0 SYCP1,frameshift_variant,p.Leu968ThrfsTer5,ENST00000369522,NM_003176.3,NM_001282541.1;SYCP1,frameshift_variant,p.Leu968ThrfsTer5,ENST00000369518,;SYCP1,frameshift_variant,p.Leu968ThrfsTer5,ENST00000618516,;SYCP1,frameshift_variant,p.Leu943ThrfsTer5,ENST00000613524,NM_001282542.1;SYCP1,non_coding_transcript_exon_variant,,ENST00000477590,; A ENSG00000198765 ENST00000369522 Transcript frameshift_variant 3131-3132/3522 2891-2892/2931 964/976 R/RX aga/agAa rs748774371,TMP_ESP_1_115537601_115537601 1 1 SYCP1 HGNC HGNC:11487 protein_coding YES CCDS879.1 ENSP00000358535 Q15431 A0A024R0I2 UPI00001CE3B9 NM_003176.3,NM_001282541.1 32/32 hmmpanther:PTHR15607:SF15,hmmpanther:PTHR15607 0.0228 0.01311 HIGH 1 insertion 1 10 PASS AGA . . 0.03575 0.03078 0.06701 0.05538 0.04057 0.01346 0.0267 0.04789 0.05692 114994979 RFX5 . GRCh38 chr1 151342298 151342302 + Frame_Shift_Del DEL AAAGG AAAGG - novel 7316-913 BS_GKRMQS5W AAAGG AAAGG c.1735_1739del p.Pro579GlyfsTer12 p.P579Gfs*12 ENST00000290524 11/11 160 64 86 30 30 0 RFX5,frameshift_variant,p.Pro579GlyfsTer12,ENST00000290524,NM_001025603.1,NM_000449.3;RFX5,frameshift_variant,p.Pro579GlyfsTer12,ENST00000368870,;RFX5,frameshift_variant,p.Pro579GlyfsTer12,ENST00000452671,;RFX5,frameshift_variant,p.Pro579GlyfsTer12,ENST00000392746,;RFX5,intron_variant,,ENST00000436637,;RFX5,downstream_gene_variant,,ENST00000412774,;RFX5,downstream_gene_variant,,ENST00000422595,;RFX5,downstream_gene_variant,,ENST00000430227,;RFX5,downstream_gene_variant,,ENST00000436271,;RFX5,downstream_gene_variant,,ENST00000437327,;RFX5,downstream_gene_variant,,ENST00000450506,;RFX5,downstream_gene_variant,,ENST00000458484,;AL391069.1,downstream_gene_variant,,ENST00000422153,;AL391069.3,upstream_gene_variant,,ENST00000455503,;RFX5,downstream_gene_variant,,ENST00000478564,;RFX5,downstream_gene_variant,,ENST00000421986,;RFX5,downstream_gene_variant,,ENST00000435314,;RFX5,downstream_gene_variant,,ENST00000444392,;RFX5,downstream_gene_variant,,ENST00000452456,;RFX5,downstream_gene_variant,,ENST00000469513,;RFX5,downstream_gene_variant,,ENST00000475144,;RFX5,downstream_gene_variant,,ENST00000479681,;RFX5,downstream_gene_variant,,ENST00000494217,; - ENSG00000143390 ENST00000290524 Transcript frameshift_variant 1914-1918/3576 1735-1739/1851 579-580/616 PL/X CCTTTg/g 1 -1 RFX5 HGNC HGNC:9986 protein_coding YES CCDS994.1 ENSP00000290524 P48382 UPI0000000E8B NM_001025603.1,NM_000449.3 11/11 mobidb-lite,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF18,Pfam_domain:PF14621,SMART_domains:SM01306 HIGH 1 deletion 1 1 PASS CCAAAGGA . . 151342297 FLG2 . GRCh38 chr1 152353710 152353710 + Missense_Mutation SNP A A C rs1264247621 7316-913 BS_GKRMQS5W A A c.4076T>G p.Val1359Gly p.V1359G ENST00000388718 3/3 144 128 11 29 28 1 FLG2,missense_variant,p.Val1359Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 4149/9124 4076/7176 1359/2391 V/G gTc/gGc rs1264247621 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 deleterious(0) benign(0.026) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS GAC . . 152353710 FCRL1 . GRCh38 chr1 157802472 157802472 + Missense_Mutation SNP G G C novel 7316-913 BS_GKRMQS5W G G c.512C>G p.Pro171Arg p.P171R ENST00000368176 4/11 144 101 43 45 45 0 FCRL1,missense_variant,p.Pro171Arg,ENST00000358292,NM_001159397.1;FCRL1,missense_variant,p.Pro171Arg,ENST00000368176,NM_052938.4;FCRL1,missense_variant,p.Pro171Arg,ENST00000491942,NM_001159398.1;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,intron_variant,,ENST00000368175,;FCRL1,upstream_gene_variant,,ENST00000463001,;FCRL1,downstream_gene_variant,,ENST00000480310,;FCRL1,upstream_gene_variant,,ENST00000495126,; C ENSG00000163534 ENST00000368176 Transcript missense_variant 580/2596 512/1290 171/429 P/R cCt/cGt 1 -1 FCRL1 HGNC HGNC:18509 protein_coding YES CCDS1170.1 ENSP00000357158 Q96LA6 UPI000006E5BD NM_052938.4 tolerated(0.21) possibly_damaging(0.837) 4/11 PROSITE_profiles:PS50835,cd00096,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF92,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS AGG . . 157802472 C1orf53 . GRCh38 chr1 197902653 197902653 + Missense_Mutation SNP G G C novel 7316-913 BS_GKRMQS5W G G c.4G>C p.Ala2Pro p.A2P ENST00000367393 1/3 136 105 28 33 33 0 C1orf53,missense_variant,p.Ala2Pro,ENST00000367393,NM_001024594.2;C1orf53,upstream_gene_variant,,ENST00000436652,;C1orf53,upstream_gene_variant,,ENST00000542800,;,regulatory_region_variant,,ENSR00000017688,; C ENSG00000203724 ENST00000367393 Transcript missense_variant 7/588 4/438 2/145 A/P Gcg/Ccg 1 1 C1orf53 HGNC HGNC:30003 protein_coding YES CCDS44290.1 ENSP00000356363 Q5VUE5 UPI00001AFA8A NM_001024594.2 deleterious_low_confidence(0) probably_damaging(0.93) 1/3 MODERATE 1 SNV 1 PASS GGC . . 197902653 OBSCN . GRCh38 chr1 228333777 228333777 + Nonsense_Mutation SNP C C T rs866751445 7316-913 BS_GKRMQS5W C C c.18922C>T p.Arg6308Ter p.R6308* ENST00000570156 70/116 155 110 42 33 33 0 OBSCN,stop_gained,p.Arg6308Ter,ENST00000570156,NM_001271223.2;OBSCN,stop_gained,p.Arg6308Ter,ENST00000366707,;OBSCN,stop_gained,p.Arg5351Ter,ENST00000422127,NM_001098623.2;OBSCN,stop_gained,p.Arg5351Ter,ENST00000636875,;OBSCN,stop_gained,p.Arg5351Ter,ENST00000284548,NM_052843.3;OBSCN,intron_variant,,ENST00000483539,;OBSCN,upstream_gene_variant,,ENST00000636476,; T ENSG00000154358 ENST00000570156 Transcript stop_gained 18996/26925 18922/26772 6308/8923 R/* Cga/Tga rs866751445,COSM5535834,COSM5535833,COSM5535832 1 1 OBSCN HGNC HGNC:15719 protein_coding YES CCDS59204.1 ENSP00000455507 A6NGQ3 UPI00027FCDB5 NM_001271223.2 70/116 Gene3D:2.60.40.10,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF30,SMART_domains:SM00409,Superfamily_domains:SSF48726 0,1,1,1 HIGH 1 SNV 5 0,1,1,1 PASS TCG . . 228333777 TGOLN2 . GRCh38 chr2 85327274 85327274 + Missense_Mutation SNP C C T rs201124506 7316-913 BS_GKRMQS5W C C c.458G>A p.Arg153Lys p.R153K ENST00000409232 2/4 72 60 8 29 28 1 TGOLN2,missense_variant,p.Arg153Lys,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Arg153Lys,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Arg153Lys,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Arg153Lys,ENST00000409015,;TGOLN2,missense_variant,p.Arg153Lys,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Arg153Lys,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; T ENSG00000152291 ENST00000409232 Transcript missense_variant 520/2235 458/1362 153/453 R/K aGg/aAg rs201124506,COSM5950301,COSM5950300 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(1) benign(0.001) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCT . . 4.082e-06 3.269e-05 85327274 ARHGEF4 . GRCh38 chr2 131038940 131038940 + Missense_Mutation SNP G G A novel 7316-913 BS_GKRMQS5W G G c.655G>A p.Asp219Asn p.D219N ENST00000326016 6/14 84 66 18 36 36 0 ARHGEF4,missense_variant,p.Asp1405Asn,ENST00000409359,;ARHGEF4,missense_variant,p.Asp219Asn,ENST00000525839,NM_032995.2;ARHGEF4,missense_variant,p.Asp244Asn,ENST00000392953,;ARHGEF4,missense_variant,p.Asp219Asn,ENST00000326016,NM_015320.3;ARHGEF4,missense_variant,p.Asp219Asn,ENST00000611048,;ARHGEF4,missense_variant,p.Asp96Asn,ENST00000409303,;ARHGEF4,missense_variant,p.Asp148Asn,ENST00000355771,;ARHGEF4,intron_variant,,ENST00000428230,;ARHGEF4,intron_variant,,ENST00000438985,;ARHGEF4,upstream_gene_variant,,ENST00000532720,;AC009477.2,downstream_gene_variant,,ENST00000635976,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000439368,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000496764,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000528247,;ARHGEF4,3_prime_UTR_variant,,ENST00000636987,;ARHGEF4,upstream_gene_variant,,ENST00000490728,;ARHGEF4,upstream_gene_variant,,ENST00000525092,;ARHGEF4,upstream_gene_variant,,ENST00000527365,; A ENSG00000136002 ENST00000326016 Transcript missense_variant 1174/3666 655/2073 219/690 D/N Gac/Aac 1 1 ARHGEF4 HGNC HGNC:684 protein_coding YES CCDS2165.1 ENSP00000316845 Q9NR80 UPI00001417F6 NM_015320.3 deleterious(0) probably_damaging(0.997) 6/14 PROSITE_profiles:PS50002,cd11973,hmmpanther:PTHR22826:SF116,hmmpanther:PTHR22826,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044 MODERATE 1 SNV 2 PASS GGA . . 131038940 KCNH7 . GRCh38 chr2 162379903 162379917 + In_Frame_Del DEL GGTGAGGTCGCTTTC GGTGAGGTCGCTTTC - novel 7316-913 BS_GKRMQS5W GGTGAGGTCGCTTTC GGTGAGGTCGCTTTC c.3067_3081del p.Glu1023_Thr1027del p.E1023_T1027del ENST00000332142 14/16 80 35 43 35 35 0 KCNH7,inframe_deletion,p.Glu1023_Thr1027del,ENST00000332142,NM_033272.3;KCNH7,inframe_deletion,p.Glu923_Thr927del,ENST00000618399,; - ENSG00000184611 ENST00000332142 Transcript inframe_deletion 3167-3181/4113 3067-3081/3591 1023-1027/1196 ESDLT/- GAAAGCGACCTCACC/- 1 -1 KCNH7 HGNC HGNC:18863 protein_coding YES CCDS2219.1 ENSP00000331727 Q9NS40 UPI0000167D11 NM_033272.3 14/16 hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF466 MODERATE 1 deletion 1 PASS TAGGTGAGGTCGCTTTCG . . 162379902 CASP10 . GRCh38 chr2 201228990 201228990 + Missense_Mutation SNP G G T novel 7316-913 BS_GKRMQS5W G G c.1473G>T p.Trp491Cys p.W491C ENST00000272879 10/10 74 65 8 43 42 0 CASP10,missense_variant,p.Trp491Cys,ENST00000272879,NM_032974.4;CASP10,missense_variant,p.Trp448Cys,ENST00000448480,NM_001206542.1;CASP8,upstream_gene_variant,,ENST00000264274,;CASP8,upstream_gene_variant,,ENST00000264275,NM_001228.4;CASP8,upstream_gene_variant,,ENST00000392258,NM_033358.3;CASP8,upstream_gene_variant,,ENST00000392263,NM_001080124.1;CASP8,upstream_gene_variant,,ENST00000432109,NM_033355.3;CASP8,upstream_gene_variant,,ENST00000440732,;CASP8,upstream_gene_variant,,ENST00000450491,;CASP8,upstream_gene_variant,,ENST00000490682,;CASP8,upstream_gene_variant,,ENST00000471383,;,regulatory_region_variant,,ENSR00000128781,; T ENSG00000003400 ENST00000272879 Transcript missense_variant 1657/2073 1473/1566 491/521 W/C tgG/tgT 1 1 CASP10 HGNC HGNC:1500 protein_coding CCDS2338.1 ENSP00000272879 Q92851 UPI000004466C NM_032974.4 tolerated(0.17) possibly_damaging(0.477) 10/10 Gene3D:3.30.70.1470,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF26,SMART_domains:SM00115,cd00032 MODERATE SNV 2 1 PASS GGG . . 201228990 TOP2B . GRCh38 chr3 25638318 25638318 + Splice_Region SNP A A C novel 7316-913 BS_GKRMQS5W A A c.396-8T>G ENST00000264331 52 34 17 25 25 0 TOP2B,splice_region_variant,,ENST00000264331,;TOP2B,splice_region_variant,,ENST00000424225,;TOP2B,splice_region_variant,,ENST00000435706,NM_001068.3,NM_001330700.1; C ENSG00000077097 ENST00000264331 Transcript splice_region_variant,intron_variant 1 -1 TOP2B HGNC HGNC:11990 protein_coding YES CCDS82746.1 ENSP00000264331 Q02880 UPI000013719A 4/35 LOW 1 SNV 5 PASS AAA . . 25638318 IFRD2 . GRCh38 chr3 50288579 50288579 + Splice_Region SNP G G A rs782768042 7316-913 BS_GKRMQS5W G G c.1344+4C>T ENST00000417626 90 41 48 23 23 0 IFRD2,splice_region_variant,,ENST00000417626,NM_006764.4;IFRD2,splice_region_variant,,ENST00000426499,;IFRD2,splice_region_variant,,ENST00000436390,;LSMEM2,downstream_gene_variant,,ENST00000316436,NM_001304385.1,NM_153215.2;HYAL3,downstream_gene_variant,,ENST00000336307,NM_003549.3;HYAL3,downstream_gene_variant,,ENST00000359051,;HYAL3,downstream_gene_variant,,ENST00000415204,NM_001200031.1;HYAL3,downstream_gene_variant,,ENST00000450982,NM_001200030.1;HYAL3,downstream_gene_variant,,ENST00000513170,NM_001200032.1;HYAL3,downstream_gene_variant,,ENST00000621157,NM_001200029.1;IFRD2,downstream_gene_variant,,ENST00000468737,;IFRD2,downstream_gene_variant,,ENST00000484043,;IFRD2,splice_region_variant,,ENST00000438296,;IFRD2,splice_region_variant,,ENST00000464258,;IFRD2,splice_region_variant,,ENST00000474556,;IFRD2,splice_region_variant,,ENST00000486322,;IFRD2,non_coding_transcript_exon_variant,,ENST00000492387,;IFRD2,downstream_gene_variant,,ENST00000414734,;IFRD2,downstream_gene_variant,,ENST00000462001,;IFRD2,downstream_gene_variant,,ENST00000469855,;IFRD2,downstream_gene_variant,,ENST00000483071,;IFRD2,downstream_gene_variant,,ENST00000489569,; A ENSG00000214706 ENST00000417626 Transcript splice_region_variant,intron_variant rs782768042 1 -1 IFRD2 HGNC HGNC:5457 protein_coding YES CCDS77746.1 ENSP00000402849 Q12894 UPI0000E5A694 NM_006764.4 10/11 LOW 1 SNV 1 PASS CGC . . 2.441e-05 0.00029 8.983e-06 50288579 CACNA1D . GRCh38 chr3 53666401 53666401 + Missense_Mutation SNP G G A novel 7316-913 BS_GKRMQS5W G G c.982G>A p.Ala328Thr p.A328T ENST00000288139 7/49 89 67 22 36 36 0 CACNA1D,missense_variant,p.Ala328Thr,ENST00000288139,;CACNA1D,missense_variant,p.Ala328Thr,ENST00000350061,NM_001128840.2;CACNA1D,missense_variant,p.Ala328Thr,ENST00000645528,NM_000720.3;CACNA1D,missense_variant,p.Ala328Thr,ENST00000636938,;CACNA1D,missense_variant,p.Ala352Thr,ENST00000637424,;CACNA1D,missense_variant,p.Ala328Thr,ENST00000636570,;CACNA1D,missense_variant,p.Ala328Thr,ENST00000422281,NM_001128839.2;CACNA1D,missense_variant,p.Ala319Thr,ENST00000640483,;CACNA1D,missense_variant,p.Ala1Thr,ENST00000481478,;CACNA1D,missense_variant,p.Ala75Thr,ENST00000636627,;CACNA1D,missense_variant,p.Ala14Thr,ENST00000481085,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000464429,; A ENSG00000157388 ENST00000288139 Transcript missense_variant 1100/8991 982/6546 328/2181 A/T Gcc/Acc 1 1 CACNA1D HGNC HGNC:1391 protein_coding YES CCDS2872.1 ENSP00000288139 Q01668 UPI000005031A tolerated(0.49) benign(0.015) 7/49 Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139 MODERATE 1 SNV 1 1 PASS TGC . . 53666401 CACNA1D . GRCh38 chr3 53666402 53666402 + Missense_Mutation SNP C C T rs748005960 7316-913 BS_GKRMQS5W C C c.983C>T p.Ala328Val p.A328V ENST00000288139 7/49 88 66 22 36 36 0 CACNA1D,missense_variant,p.Ala328Val,ENST00000288139,;CACNA1D,missense_variant,p.Ala328Val,ENST00000350061,NM_001128840.2;CACNA1D,missense_variant,p.Ala328Val,ENST00000645528,NM_000720.3;CACNA1D,missense_variant,p.Ala328Val,ENST00000636938,;CACNA1D,missense_variant,p.Ala352Val,ENST00000637424,;CACNA1D,missense_variant,p.Ala328Val,ENST00000636570,;CACNA1D,missense_variant,p.Ala328Val,ENST00000422281,NM_001128839.2;CACNA1D,missense_variant,p.Ala319Val,ENST00000640483,;CACNA1D,missense_variant,p.Ala1Val,ENST00000481478,;CACNA1D,missense_variant,p.Ala75Val,ENST00000636627,;CACNA1D,missense_variant,p.Ala14Val,ENST00000481085,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000464429,; T ENSG00000157388 ENST00000288139 Transcript missense_variant 1101/8991 983/6546 328/2181 A/V gCc/gTc rs748005960 1 1 CACNA1D HGNC HGNC:1391 protein_coding YES CCDS2872.1 ENSP00000288139 Q01668 UPI000005031A tolerated(0.49) benign(0.007) 7/49 Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139 MODERATE 1 SNV 1 1 PASS GCC . . 4.062e-06 3.249e-05 53666402 SLC9C1 . GRCh38 chr3 112278739 112278739 + Nonsense_Mutation SNP A A C novel 7316-913 BS_GKRMQS5W A A c.308T>G p.Leu103Ter p.L103* ENST00000305815 4/29 76 34 40 38 37 0 SLC9C1,stop_gained,p.Leu103Ter,ENST00000305815,NM_183061.2;SLC9C1,stop_gained,p.Leu103Ter,ENST00000487372,NM_001320531.1;SLC9C1,stop_gained,p.Leu30Ter,ENST00000486574,;SLC9C1,downstream_gene_variant,,ENST00000467397,;SLC9C1,stop_gained,p.Leu103Ter,ENST00000471295,; C ENSG00000172139 ENST00000305815 Transcript stop_gained 561/4172 308/3534 103/1177 L/* tTa/tGa 1 -1 SLC9C1 HGNC HGNC:31401 protein_coding YES CCDS33817.1 ENSP00000306627 Q4G0N8 UPI00002372C5 NM_183061.2 4/29 Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87 HIGH 1 SNV 2 PASS TAA . . 112278739 IGSF10 . GRCh38 chr3 151447796 151447796 + Missense_Mutation SNP G G A rs372971163 7316-913 BS_GKRMQS5W G G c.2185C>T p.Arg729Cys p.R729C ENST00000282466 4/6 78 50 28 34 34 0 IGSF10,missense_variant,p.Arg729Cys,ENST00000282466,NM_178822.4;IGSF10,upstream_gene_variant,,ENST00000489791,; A ENSG00000152580 ENST00000282466 Transcript missense_variant 2185/11067 2185/7872 729/2623 R/C Cgt/Tgt rs372971163 1 -1 IGSF10 HGNC HGNC:26384 protein_coding YES CCDS3160.1 ENSP00000282466 Q6WRI0 UPI00001D629A NM_178822.4 tolerated(0.05) possibly_damaging(0.609) 4/6 hmmpanther:PTHR45103 0.0002326 MODERATE 1 SNV 1 PASS CGT . . 8.531e-05 0.0001192 0.0002031 0.000116 0.0001794 4.478e-05 0.000365 6.499e-05 151447796 SLC7A14 . GRCh38 chr3 170480297 170480298 + Frame_Shift_Del DEL CA CA - novel 7316-913 BS_GKRMQS5W CA CA c.1984_1985del p.Cys662LeufsTer38 p.C662Lfs*38 ENST00000231706 7/8 90 49 36 48 48 0 SLC7A14,frameshift_variant,p.Cys662LeufsTer38,ENST00000231706,NM_020949.2;AC026316.5,intron_variant,,ENST00000486975,;AC026316.5,intron_variant,,ENST00000471373,;AC026316.4,intron_variant,,ENST00000480067,;AC026316.4,intron_variant,,ENST00000643719,;AC026316.4,intron_variant,,ENST00000644993,; - ENSG00000013293 ENST00000231706 Transcript frameshift_variant 2300-2301/10103 1984-1985/2316 662/771 C/X TGc/c 1 -1 SLC7A14 HGNC HGNC:29326 protein_coding YES CCDS33892.1 ENSP00000231706 Q8TBB6 UPI0000051F6B NM_020949.2 7/8 Pfam_domain:PF13906,hmmpanther:PTHR43243,hmmpanther:PTHR43243:SF25,Transmembrane_helices:TMhelix HIGH 1 deletion 2 1 PASS AGCAC . . 170480296 MUC4 . GRCh38 chr3 195783086 195783086 + Missense_Mutation SNP A A G rs867908120 7316-913 BS_GKRMQS5W A A c.8494T>C p.Ser2832Pro p.S2832P ENST00000463781 2/25 70 46 14 28 21 0 MUC4,missense_variant,p.Ser2832Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser2832Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser2832Pro,ENST00000478156,;MUC4,missense_variant,p.Ser2832Pro,ENST00000466475,;MUC4,missense_variant,p.Ser2832Pro,ENST00000477756,;MUC4,missense_variant,p.Ser2832Pro,ENST00000477086,;MUC4,missense_variant,p.Ser2832Pro,ENST00000480843,;MUC4,missense_variant,p.Ser2832Pro,ENST00000462323,;MUC4,missense_variant,p.Ser2832Pro,ENST00000470451,;MUC4,missense_variant,p.Ser2832Pro,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 8954/17110 8494/16239 2832/5412 S/P Tct/Cct rs867908120,COSM4157682 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.46) benign(0) 2/25 hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GAG . . 0.01097 0.01371 0.007935 0.002878 0.01025 0.007787 0.01596 0.01255 0.006759 195783086 PDGFRA . GRCh38 chr4 54285945 54285945 + Missense_Mutation SNP C C A 7316-913 BS_GKRMQS5W C C c.2544C>A p.Asn848Lys p.N848K ENST00000257290 18/23 188 62 123 23 23 0 PDGFRA,missense_variant,p.Asn848Lys,ENST00000257290,NM_006206.4,NM_001347828.1,NM_001347829.1,NM_001347830.1;AC058822.1,missense_variant,p.Asn608Lys,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000507536,;PDGFRA,downstream_gene_variant,,ENST00000509490,; A ENSG00000134853 ENST00000257290 Transcript missense_variant 2875/6576 2544/3270 848/1089 N/K aaC/aaA COSM28052 1 1 PDGFRA HGNC HGNC:8803 protein_coding YES CCDS3495.1 ENSP00000257290 P16234 UPI0000131793 NM_006206.4,NM_001347828.1,NM_001347829.1,NM_001347830.1 deleterious(0) probably_damaging(0.998) 18/23 cd05105,PIRSF_domain:PIRSF500950,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000615,Pfam_domain:PF07714,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF53,hmmpanther:PTHR24416 1 MODERATE 1 SNV 1 1 1 PASS ACT . . 54285945 FGB . GRCh38 chr4 154570607 154570607 + Missense_Mutation SNP G A A rs4220 7316-913 BS_GKRMQS5W G G c.1433G>A p.Arg478Lys p.R478K ENST00000302068 8/8 63 3 59 24 18 6 FGB,missense_variant,p.Arg478Lys,ENST00000302068,NM_005141.4,NM_001184741.1;FGB,missense_variant,p.Arg259Lys,ENST00000509493,;FGB,non_coding_transcript_exon_variant,,ENST00000502545,;FGB,downstream_gene_variant,,ENST00000425838,;FGB,downstream_gene_variant,,ENST00000473984,;FGB,downstream_gene_variant,,ENST00000497097,;FGB,downstream_gene_variant,,ENST00000498375,; A ENSG00000171564 ENST00000302068 Transcript missense_variant 1496/1975 1433/1476 478/491 R/K aGg/aAg rs4220,CM080365,COSM4415223 1 1 FGB HGNC HGNC:3662 protein_coding YES CCDS3786.1 ENSP00000306099 P02675 V9HVY1 UPI000012A778 NM_005141.4,NM_001184741.1 tolerated(1) benign(0) 8/8 PDB-ENSP_mappings:1fza.B,PDB-ENSP_mappings:1fza.E,PDB-ENSP_mappings:1fzb.B,PDB-ENSP_mappings:1fzb.E,PDB-ENSP_mappings:1fzc.B,PDB-ENSP_mappings:1fzc.E,PDB-ENSP_mappings:1fze.B,PDB-ENSP_mappings:1fze.E,PDB-ENSP_mappings:1fzf.B,PDB-ENSP_mappings:1fzf.E,PDB-ENSP_mappings:1fzg.B,PDB-ENSP_mappings:1fzg.E,PDB-ENSP_mappings:1lt9.B,PDB-ENSP_mappings:1lt9.E,PDB-ENSP_mappings:1ltj.B,PDB-ENSP_mappings:1ltj.E,PDB-ENSP_mappings:1n86.B,PDB-ENSP_mappings:1n86.E,PDB-ENSP_mappings:1n8e.B,PDB-ENSP_mappings:1n8e.E,PDB-ENSP_mappings:1re3.B,PDB-ENSP_mappings:1re3.E,PDB-ENSP_mappings:1re4.B,PDB-ENSP_mappings:1re4.E,PDB-ENSP_mappings:1rf0.B,PDB-ENSP_mappings:1rf0.E,PDB-ENSP_mappings:1rf1.B,PDB-ENSP_mappings:1rf1.E,PDB-ENSP_mappings:2ffd.B,PDB-ENSP_mappings:2ffd.E,PDB-ENSP_mappings:2h43.B,PDB-ENSP_mappings:2h43.E,PDB-ENSP_mappings:2hlo.B,PDB-ENSP_mappings:2hlo.E,PDB-ENSP_mappings:2hod.B,PDB-ENSP_mappings:2hod.E,PDB-ENSP_mappings:2hod.H,PDB-ENSP_mappings:2hod.K,PDB-ENSP_mappings:2hpc.B,PDB-ENSP_mappings:2hpc.E,PDB-ENSP_mappings:2hpc.H,PDB-ENSP_mappings:2hpc.K,PDB-ENSP_mappings:2oyh.B,PDB-ENSP_mappings:2oyh.E,PDB-ENSP_mappings:2oyi.B,PDB-ENSP_mappings:2oyi.E,PDB-ENSP_mappings:2q9i.B,PDB-ENSP_mappings:2q9i.E,PDB-ENSP_mappings:2xnx.B,PDB-ENSP_mappings:2xnx.E,PDB-ENSP_mappings:2xnx.H,PDB-ENSP_mappings:2xnx.K,PDB-ENSP_mappings:2xny.B,PDB-ENSP_mappings:2xny.E,PDB-ENSP_mappings:2z4e.B,PDB-ENSP_mappings:2z4e.E,PDB-ENSP_mappings:3bvh.B,PDB-ENSP_mappings:3bvh.E,PDB-ENSP_mappings:3e1i.B,PDB-ENSP_mappings:3e1i.E,PDB-ENSP_mappings:3ghg.B,PDB-ENSP_mappings:3ghg.E,PDB-ENSP_mappings:3ghg.H,PDB-ENSP_mappings:3ghg.K,PDB-ENSP_mappings:3h32.B,PDB-ENSP_mappings:3h32.E,PDB-ENSP_mappings:3hus.B,PDB-ENSP_mappings:3hus.E,PROSITE_profiles:PS51406,cd00087,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF332,Gene3D:4.10.530.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496 0.1534 0.0756 0.1499 0.2242 0.1998 0.1401 0.08852 0.1899 benign,likely_benign,other 0,0,1 25741868,22553514,3194892,19064790,20031577,20135074,20167083,20388367,21258858,22116284,22273812,23220916,25156046,25613928,26304913,15983960,18772067 MODERATE 1 SNV 1 1,1,1 1 PASS AGG . . 0.1707 0.09045 0.134 0.1829 0.2287 0.1684 0.1868 0.192 0.1537 154570607 CDH12 . GRCh38 chr5 21751899 21751899 + Nonsense_Mutation SNP G G T novel 7316-913 BS_GKRMQS5W G G c.2223C>A p.Tyr741Ter p.Y741* ENST00000382254 15/15 94 53 40 34 34 0 CDH12,stop_gained,p.Tyr741Ter,ENST00000382254,NM_004061.4;CDH12,stop_gained,p.Tyr741Ter,ENST00000504376,NM_001317227.1;CDH12,stop_gained,p.Tyr701Ter,ENST00000522262,NM_001317228.1;AC091946.1,intron_variant,,ENST00000522350,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,; T ENSG00000154162 ENST00000382254 Transcript stop_gained 3310/4164 2223/2385 741/794 Y/* taC/taA 1 -1 CDH12 HGNC HGNC:1751 protein_coding YES CCDS3890.1 ENSP00000371689 P55289 UPI00000622EB NM_004061.4 15/15 Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96 HIGH 1 SNV 1 PASS CGT . . 21751899 CMYA5 . GRCh38 chr5 79732649 79732649 + Missense_Mutation SNP C C T rs4704585 7316-913 BS_GKRMQS5W C C c.3884C>T p.Ala1295Val p.A1295V ENST00000446378 2/13 130 56 72 30 28 2 CMYA5,missense_variant,p.Ala1295Val,ENST00000446378,NM_153610.4; T ENSG00000164309 ENST00000446378 Transcript missense_variant 3915/12847 3884/12210 1295/4069 A/V gCt/gTt rs4704585,COSM4407218,COSM4407217 1 1 CMYA5 HGNC HGNC:14305 protein_coding YES CCDS47238.1 ENSP00000394770 Q8N3K9 UPI00004F9478 NM_153610.4 tolerated(1) benign(0) 2/13 hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7 0.5553 0.7837 0.4107 0.6448 0.3907 0.4264 0.7176 0.3862 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCT . . 0.4353 0.7409 0.3674 0.5067 0.6511 0.4283 0.3784 0.4196 0.4272 79732649 ARSK . GRCh38 chr5 95603446 95603446 + Missense_Mutation SNP G G A novel 7316-913 BS_GKRMQS5W G G c.1531G>A p.Asp511Asn p.D511N ENST00000380009 8/8 85 43 41 33 32 0 ARSK,missense_variant,p.Asp511Asn,ENST00000380009,NM_198150.2;ARSK,3_prime_UTR_variant,,ENST00000513814,;ARSK,3_prime_UTR_variant,,ENST00000504873,; A ENSG00000164291 ENST00000380009 Transcript missense_variant 1736/3354 1531/1611 511/536 D/N Gac/Aac 1 1 ARSK HGNC HGNC:25239 protein_coding YES CCDS4073.1 ENSP00000369346 Q6UWY0 UPI000004C65F NM_198150.2 deleterious(0.01) probably_damaging(0.984) 8/8 MODERATE 1 SNV 1 PASS AGA . . 95603446 ARSK . GRCh38 chr5 95603451 95603451 + Missense_Mutation SNP G G C novel 7316-913 BS_GKRMQS5W G G c.1536G>C p.Trp512Cys p.W512C ENST00000380009 8/8 86 43 42 33 31 0 ARSK,missense_variant,p.Trp512Cys,ENST00000380009,NM_198150.2;ARSK,3_prime_UTR_variant,,ENST00000513814,;ARSK,3_prime_UTR_variant,,ENST00000504873,; C ENSG00000164291 ENST00000380009 Transcript missense_variant 1741/3354 1536/1611 512/536 W/C tgG/tgC 1 1 ARSK HGNC HGNC:25239 protein_coding YES CCDS4073.1 ENSP00000369346 Q6UWY0 UPI000004C65F NM_198150.2 deleterious(0) probably_damaging(0.998) 8/8 MODERATE 1 SNV 1 PASS GGC . . 95603451 PCDHB1 . GRCh38 chr5 141053848 141053848 + Missense_Mutation SNP C C T novel 7316-913 BS_GKRMQS5W C C c.2378C>T p.Ser793Phe p.S793F ENST00000306549 1/1 101 56 45 35 35 0 PCDHB1,missense_variant,p.Ser793Phe,ENST00000306549,NM_013340.3;AC244517.5,intron_variant,,ENST00000623741,;AC244517.5,intron_variant,,ENST00000624139,;AC244517.5,intron_variant,,ENST00000624778,;AC244517.5,downstream_gene_variant,,ENST00000623109,; T ENSG00000171815 ENST00000306549 Transcript missense_variant 2714/8210 2378/2457 793/818 S/F tCc/tTc 1 1 PCDHB1 HGNC HGNC:8680 protein_coding YES CCDS4243.1 ENSP00000307234 Q9Y5F3 UPI000013EB56 NM_013340.3 deleterious(0) benign(0.332) 1/1 mobidb-lite,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF12 MODERATE SNV PASS TCC . . 141053848 SLC34A1 . GRCh38 chr5 177386507 177386507 + Missense_Mutation SNP T T A novel 7316-913 BS_GKRMQS5W T T c.473T>A p.Val158Glu p.V158E ENST00000324417 5/13 118 107 10 24 24 0 SLC34A1,missense_variant,p.Val158Glu,ENST00000324417,NM_003052.4;SLC34A1,missense_variant,p.Val158Glu,ENST00000512593,NM_001167579.1;SLC34A1,downstream_gene_variant,,ENST00000504577,;SLC34A1,upstream_gene_variant,,ENST00000513614,;SLC34A1,non_coding_transcript_exon_variant,,ENST00000507685,; A ENSG00000131183 ENST00000324417 Transcript missense_variant 564/2573 473/1920 158/639 V/E gTg/gAg 1 1 SLC34A1 HGNC HGNC:11019 protein_coding YES CCDS4418.1 ENSP00000321424 Q06495 A0A024R7R9 UPI0000130408 NM_003052.4 deleterious(0) probably_damaging(0.995) 5/13 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10010:SF21,hmmpanther:PTHR10010,TIGRFAM_domain:TIGR01013,Pfam_domain:PF02690 MODERATE 1 SNV 1 1 PASS GTG . . 177386507 HLA-A . GRCh38 chr6 29942625 29942625 + Splice_Region SNP G G A rs1136656 7316-913 BS_GKRMQS5W G G c.72G>A p.Ala24= p.A24= ENST00000396634 3/10 64 53 9 21 20 1 HLA-A,splice_region_variant,p.Ala24=,ENST00000396634,;HLA-A,splice_region_variant,p.Ala24=,ENST00000376806,;HLA-A,splice_region_variant,p.Ala24=,ENST00000376809,NM_002116.7;HLA-A,splice_region_variant,p.Ala24=,ENST00000376802,;HLA-A,splice_region_variant,p.Ala24=,ENST00000638375,;HLA-A,splice_region_variant,,ENST00000496081,;HLA-A,splice_region_variant,,ENST00000495183,;HLA-A,splice_region_variant,,ENST00000461903,;HLA-A,splice_region_variant,,ENST00000479320,;,regulatory_region_variant,,ENSR00000195346,;AL671277.1,non_coding_transcript_exon_variant,,ENST00000429656,; A ENSG00000206503 ENST00000396634 Transcript splice_region_variant,synonymous_variant 413/1868 72/1098 24/365 A gcG/gcA rs1136656,COSM5619110,COSM5619109 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D 3/10 Cleavage_site_(Signalp):SignalP-noTM,Gene3D:3.30.500.10,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.1561 0.1362 0.1772 0.2034 0.1123 0.1646 0.1344 0.1057 0,1,1 LOW 1 SNV 0,1,1 1 PASS CGG . . 0.1313 0.144 0.1818 0.1295 0.1763 0.09916 0.1066 0.1371 0.1541 29942625 MUC21 . GRCh38 chr6 30987113 30987113 + Missense_Mutation SNP A A G rs9262379 7316-913 BS_GKRMQS5W A A c.938A>G p.Asn313Ser p.N313S ENST00000376296 2/3 83 59 15 25 22 0 MUC21,missense_variant,p.Asn313Ser,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,; G ENSG00000204544 ENST00000376296 Transcript missense_variant 1179/3651 938/1701 313/566 N/S aAc/aGc rs9262379,COSM3747665 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 tolerated(1) benign(0) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR39408,Pfam_domain:PF05647 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 0.000479 0.0007782 0.001142 0.0001248 0.002034 4.851e-05 0.0002713 0.0005097 0.0003678 30987113 PGM3 . GRCh38 chr6 83172058 83172058 + Missense_Mutation SNP G G C novel 7316-913 BS_GKRMQS5W G G c.1328C>G p.Ala443Gly p.A443G ENST00000506587 12/14 102 64 37 40 40 0 PGM3,missense_variant,p.Ala415Gly,ENST00000513973,NM_015599.2;PGM3,missense_variant,p.Ala334Gly,ENST00000616566,NM_001199918.1;PGM3,missense_variant,p.Ala334Gly,ENST00000283977,;PGM3,missense_variant,p.Ala415Gly,ENST00000512866,NM_001199919.1;PGM3,missense_variant,p.Ala443Gly,ENST00000506587,NM_001199917.1;PGM3,missense_variant,p.Ala46Gly,ENST00000509219,;DOPEY1,downstream_gene_variant,,ENST00000237163,NM_001199942.1;DOPEY1,downstream_gene_variant,,ENST00000349129,NM_015018.3;DOPEY1,downstream_gene_variant,,ENST00000369739,;DOPEY1,downstream_gene_variant,,ENST00000484282,;PGM3,upstream_gene_variant,,ENST00000504780,;PGM3,downstream_gene_variant,,ENST00000507404,; C ENSG00000013375 ENST00000506587 Transcript missense_variant,splice_region_variant 1475/1971 1328/1713 443/570 A/G gCa/gGa 1 -1 PGM3 HGNC HGNC:8907 protein_coding YES CCDS56436.1 ENSP00000425809 O95394 UPI0000579B50 NM_001199917.1 deleterious(0) benign(0.159) 12/14 cd03086,hmmpanther:PTHR22573:SF15,hmmpanther:PTHR22573,Gene3D:3.40.120.10,PIRSF_domain:PIRSF016408 MODERATE 1 SNV 2 1 PASS TGC . . 83172058 CRYBG1 . GRCh38 chr6 106521316 106521316 + Missense_Mutation SNP G G T novel 7316-913 BS_GKRMQS5W G G c.2884G>T p.Ala962Ser p.A962S ENST00000369066 2/20 105 97 6 18 17 0 CRYBG1,missense_variant,p.Ala1370Ser,ENST00000633556,;CRYBG1,missense_variant,p.Ala962Ser,ENST00000369066,NM_001624.3;,regulatory_region_variant,,ENSR00000200637,; T ENSG00000112297 ENST00000369066 Transcript missense_variant 3371/7553 2884/5172 962/1723 A/S Gct/Tct 1 1 CRYBG1 HGNC HGNC:356 protein_coding YES CCDS34506.1 ENSP00000358062 Q9Y4K1 UPI000013C91D NM_001624.3 tolerated(0.62) benign(0) 2/20 hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF2 MODERATE 1 SNV 1 PASS GGC . . 106521316 RSPH10B2 . GRCh38 chr7 6780874 6780874 + Missense_Mutation SNP C C A novel 7316-913 BS_GKRMQS5W C C c.1595C>A p.Ala532Asp p.A532D ENST00000403107 13/20 101 65 35 20 20 0 RSPH10B2,missense_variant,p.Ala532Asp,ENST00000403107,;RSPH10B2,missense_variant,p.Ala532Asp,ENST00000404077,NM_001099697.1;RSPH10B2,missense_variant,p.Ala532Asp,ENST00000297186,;RSPH10B2,intron_variant,,ENST00000463354,;RSPH10B2,downstream_gene_variant,,ENST00000485129,;RSPH10B2,intron_variant,,ENST00000485920,; A ENSG00000169402 ENST00000403107 Transcript missense_variant 1982/3220 1595/2613 532/870 A/D gCc/gAc 1 1 RSPH10B2 HGNC HGNC:34385 protein_coding YES CCDS43552.1 ENSP00000384766 B2RC85 UPI000020EAF6 deleterious(0) probably_damaging(0.976) 13/20 hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF205,Gene3D:1.10.238.10 MODERATE 1 SNV 1 PASS GCC . . 6780874 ZNF117 . GRCh38 chr7 64978961 64978961 + Nonsense_Mutation SNP G G A novel 7316-913 BS_GKRMQS5W G G c.610C>T p.Gln204Ter p.Q204* ENST00000282869 4/4 106 59 46 30 30 0 ZNF117,stop_gained,p.Gln204Ter,ENST00000282869,NM_015852.3;ZNF117,stop_gained,p.Gln204Ter,ENST00000620222,NM_001348050.1;ZNF117,stop_gained,p.Gln204Ter,ENST00000610793,;ZNF117,downstream_gene_variant,,ENST00000487644,; A ENSG00000152926 ENST00000282869 Transcript stop_gained 1895/9080 610/1452 204/483 Q/* Cag/Tag 1 -1 ZNF117 HGNC HGNC:12897 protein_coding YES CCDS43593.1 ENSP00000282869 Q03924 UPI000049E07A NM_015852.3 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF037113,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,hmmpanther:PTHR24384:SF134,SMART_domains:SM00355,Superfamily_domains:SSF57667 HIGH 1 SNV 1 PASS TGG . . 64978961 SEMA3D . GRCh38 chr7 85012835 85012835 + Missense_Mutation SNP C C T rs150646719 7316-913 BS_GKRMQS5W C C c.1715G>A p.Arg572His p.R572H ENST00000284136 15/17 92 54 38 38 38 0 SEMA3D,missense_variant,p.Arg572His,ENST00000284136,NM_152754.2;SEMA3D,non_coding_transcript_exon_variant,,ENST00000484038,; T ENSG00000153993 ENST00000284136 Transcript missense_variant 1759/6265 1715/2334 572/777 R/H cGc/cAc rs150646719,COSM197390 1 -1 SEMA3D HGNC HGNC:10726 protein_coding YES CCDS34676.1 ENSP00000284136 O95025 UPI0000135A66 NM_152754.2 deleterious(0) probably_damaging(0.974) 15/17 hmmpanther:PTHR11036:SF36,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575 0.000227 0.0001163 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCG . . 0.0002162 6.565e-05 2.995e-05 0.0003332 0.0004549 85012835 SLC12A9 . GRCh38 chr7 100855738 100855738 + Frame_Shift_Del DEL G G - novel 7316-913 BS_GKRMQS5W G G c.353del p.Gly118AlafsTer104 p.G118Afs*104 ENST00000354161 4/14 102 85 14 32 32 0 SLC12A9,frameshift_variant,p.Gly118AlafsTer104,ENST00000354161,NM_020246.3;SLC12A9,frameshift_variant,p.Gly118AlafsTer104,ENST00000540482,NM_001267812.1;SLC12A9,frameshift_variant,p.Gly118AlafsTer?,ENST00000434158,;SLC12A9,intron_variant,,ENST00000415287,NM_001267814.1;SLC12A9,intron_variant,,ENST00000416675,;SLC12A9,intron_variant,,ENST00000418037,;SLC12A9-AS1,upstream_gene_variant,,ENST00000412754,;SLC12A9,intron_variant,,ENST00000461016,;SLC12A9,upstream_gene_variant,,ENST00000475623,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000462106,;SLC12A9,intron_variant,,ENST00000448342,;SLC12A9,upstream_gene_variant,,ENST00000467972,;SLC12A9,upstream_gene_variant,,ENST00000487651,;SLC12A9,upstream_gene_variant,,ENST00000497958,; - ENSG00000146828 ENST00000354161 Transcript frameshift_variant 474/3273 349/2745 117/914 G/X Ggg/gg 1 1 SLC12A9 HGNC HGNC:17435 protein_coding YES CCDS5707.1 ENSP00000275730 Q9BXP2 UPI000006CD28 NM_020246.3 4/14 Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF52 HIGH 1 deletion 1 4 PASS TCGG . . 100855737 TRIP6 . GRCh38 chr7 100870571 100870571 + Splice_Region SNP C C G 7316-913 BS_GKRMQS5W C C c.830-3C>G ENST00000200457 103 59 44 33 33 0 TRIP6,splice_region_variant,,ENST00000200457,NM_003302.2;TRIP6,splice_region_variant,,ENST00000429658,;TRIP6,splice_region_variant,,ENST00000619988,;SLC12A9,downstream_gene_variant,,ENST00000354161,NM_020246.3;SRRT,upstream_gene_variant,,ENST00000431645,;SRRT,upstream_gene_variant,,ENST00000611405,NM_015908.5;SRRT,upstream_gene_variant,,ENST00000614484,NM_001128852.1;SRRT,upstream_gene_variant,,ENST00000618262,NM_001128853.1;SRRT,upstream_gene_variant,,ENST00000618411,NM_001128854.1;MIR6875,downstream_gene_variant,,ENST00000617506,;TRIP6,splice_region_variant,,ENST00000417475,;TRIP6,splice_region_variant,,ENST00000437505,;TRIP6,splice_region_variant,,ENST00000463125,;TRIP6,non_coding_transcript_exon_variant,,ENST00000476870,;SLC12A9,downstream_gene_variant,,ENST00000467972,;SLC12A9,downstream_gene_variant,,ENST00000475687,;SLC12A9,downstream_gene_variant,,ENST00000487651,;TRIP6,upstream_gene_variant,,ENST00000488670,;TRIP6,downstream_gene_variant,,ENST00000496260,;SRRT,upstream_gene_variant,,ENST00000614370,;SRRT,upstream_gene_variant,,ENST00000620394,; G ENSG00000087077 ENST00000200457 Transcript splice_region_variant,intron_variant COSM5476721 1 1 TRIP6 HGNC HGNC:12311 protein_coding YES CCDS5708.1 ENSP00000200457 Q15654 UPI00000012CD NM_003302.2 5/8 1 LOW 1 SNV 1 1 PASS TCA . . 100870571 OPN1SW . GRCh38 chr7 128774623 128774623 + Missense_Mutation SNP A A T novel 7316-913 BS_GKRMQS5W A A c.562T>A p.Trp188Arg p.W188R ENST00000249389 3/5 93 87 6 33 32 0 OPN1SW,missense_variant,p.Trp188Arg,ENST00000249389,NM_001708.2;CALU,downstream_gene_variant,,ENST00000249364,NM_001219.4;CALU,downstream_gene_variant,,ENST00000449187,NM_001130674.2;CALU,downstream_gene_variant,,ENST00000479257,NM_001199671.1;CALU,downstream_gene_variant,,ENST00000493278,;CALU,downstream_gene_variant,,ENST00000535011,NM_001199673.1;CALU,downstream_gene_variant,,ENST00000542996,NM_001199672.1; T ENSG00000128617 ENST00000249389 Transcript missense_variant 562/1096 562/1047 188/348 W/R Tgg/Agg 1 -1 OPN1SW HGNC HGNC:1012 protein_coding YES CCDS5806.1 ENSP00000249389 P03999 Q0PJU0 UPI000000014B NM_001708.2 deleterious(0) probably_damaging(1) 3/5 PROSITE_profiles:PS50262,cd15076,hmmpanther:PTHR24240:SF16,hmmpanther:PTHR24240,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 MODERATE 1 SNV 1 1 PASS CAG . . 128774623 TRBV28 . GRCh38 chr7 142720886 142720886 + Missense_Mutation SNP A A T novel 7316-913 BS_GKRMQS5W A A c.70A>T p.Thr24Ser p.T24S ENST00000390400 2/2 88 78 8 28 28 0 TRBV28,missense_variant,p.Thr24Ser,ENST00000390400,;,regulatory_region_variant,,ENSR00000219292,;PGBD4P1,upstream_gene_variant,,ENST00000473644,; T ENSG00000211753 ENST00000390400 Transcript missense_variant 90/364 70/344 24/114 T/S Acc/Tcc 1 1 TRBV28 HGNC HGNC:12209 TR_V_gene YES ENSP00000374923 A0A5B6 UPI0000113808 tolerated(0.11) possibly_damaging(0.734) 2/2 PDB-ENSP_mappings:4zdh.B MODERATE 1 SNV PASS AAC . . 142720886 OR2A25 . GRCh38 chr7 144074713 144074713 + Missense_Mutation SNP T T C novel 7316-913 BS_GKRMQS5W T T c.494T>C p.Leu165Pro p.L165P ENST00000641663 2/2 99 55 43 41 40 0 OR2A25,missense_variant,p.Leu165Pro,ENST00000641663,;OR2A25,missense_variant,p.Leu165Pro,ENST00000641441,;OR2A25,missense_variant,p.Leu165Pro,ENST00000408898,NM_001004488.1;,regulatory_region_variant,,ENSR00000328866,;OR2A41P,upstream_gene_variant,,ENST00000473586,; C ENSG00000221933 ENST00000641663 Transcript missense_variant 584/1741 494/933 165/310 L/P cTg/cCg 1 1 OR2A25 HGNC HGNC:19562 protein_coding YES CCDS43669.1 ENSP00000493343 A4D2G3 A0A126GVV5 UPI00002373C5 deleterious(0) probably_damaging(0.983) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF146,Superfamily_domains:SSF81321,cd15420,Low_complexity_(Seg):seg MODERATE 1 SNV PASS CTG . . 144074713 XKR6 . GRCh38 chr8 10924774 10924774 + Missense_Mutation SNP C C T 7316-913 BS_GKRMQS5W C C c.821G>A p.Arg274Gln p.R274Q ENST00000416569 2/3 124 115 6 37 36 0 XKR6,missense_variant,p.Arg274Gln,ENST00000416569,NM_173683.3;XKR6,missense_variant,p.Arg51Gln,ENST00000382461,; T ENSG00000171044 ENST00000416569 Transcript missense_variant 848/3382 821/1926 274/641 R/Q cGa/cAa COSM4646188 1 -1 XKR6 HGNC HGNC:27806 protein_coding YES CCDS5978.2 ENSP00000416707 Q5GH73 UPI00004C7A9D NM_173683.3 deleterious(0.02) probably_damaging(0.909) 2/3 Pfam_domain:PF09815,hmmpanther:PTHR16024,hmmpanther:PTHR16024:SF9 1 MODERATE 1 SNV 1 1 PASS TCG . . 10924774 DLC1 . GRCh38 chr8 13305309 13305309 + Splice_Region SNP A A G novel 7316-913 BS_GKRMQS5W A A c.1315-7T>C ENST00000276297 125 113 8 27 27 0 DLC1,splice_region_variant,,ENST00000276297,NM_182643.2,NM_001348081.1;DLC1,splice_region_variant,,ENST00000316609,;DLC1,splice_region_variant,,ENST00000511869,NM_024767.3; G ENSG00000164741 ENST00000276297 Transcript splice_region_variant,intron_variant 1 -1 DLC1 HGNC HGNC:2897 protein_coding YES CCDS5989.1 ENSP00000276297 Q96QB1 UPI0000210275 NM_182643.2,NM_001348081.1 4/17 LOW 1 SNV 1 1 PASS AAA . . 13305309 SLC25A37 . GRCh38 chr8 23529211 23529211 + Missense_Mutation SNP A A G novel 7316-913 BS_GKRMQS5W A A c.209A>G p.Lys70Arg p.K70R ENST00000519973 1/4 149 87 60 40 39 0 SLC25A37,missense_variant,p.Lys70Arg,ENST00000519973,NM_016612.3,NM_001317814.1,NM_001317812.1,NM_001317813.1;SLC25A37,missense_variant,p.Lys51Arg,ENST00000523930,;SLC25A37,splice_region_variant,,ENST00000519192,;SLC25A37,missense_variant,p.Lys70Arg,ENST00000290075,;SLC25A37,missense_variant,p.Lys70Arg,ENST00000417331,;SLC25A37,splice_region_variant,,ENST00000518881,;SLC25A37,splice_region_variant,,ENST00000520654,;,regulatory_region_variant,,ENSR00000222243,; G ENSG00000147454 ENST00000519973 Transcript missense_variant,splice_region_variant 407/4823 209/1017 70/338 K/R aAg/aGg 1 1 SLC25A37 HGNC HGNC:29786 protein_coding YES CCDS47828.1 ENSP00000429200 Q9NYZ2 UPI00005A61AD NM_016612.3,NM_001317814.1,NM_001317812.1,NM_001317813.1 deleterious(0.01) probably_damaging(0.96) 1/4 Gene3D:1.50.40.10,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF334,Superfamily_domains:SSF103506 MODERATE 1 SNV 1 PASS AAG . . 23529211 CHD7 . GRCh38 chr8 60821817 60821818 + Frame_Shift_Ins INS - - GTTCACTTCCTTATGAA novel 7316-913 BS_GKRMQS5W - - c.2727_2743dup p.Asp915ValfsTer16 p.D915Vfs*16 ENST00000423902 10/38 106 58 42 23 21 0 CHD7,frameshift_variant,p.Asp915ValfsTer16,ENST00000423902,NM_017780.3;CHD7,frameshift_variant,p.Asp915ValfsTer16,ENST00000525508,;CHD7,intron_variant,,ENST00000524602,NM_001316690.1; GTTCACTTCCTTATGAA ENSG00000171316 ENST00000423902 Transcript frameshift_variant 3204-3205/11568 2725-2726/8994 909/2997 C/CSLPYEX tgt/tGTTCACTTCCTTATGAAgt 1 1 CHD7 HGNC HGNC:20626 protein_coding YES CCDS47865.1 ENSP00000392028 Q9P2D1 UPI0000251DA6 NM_017780.3 10/38 PROSITE_profiles:PS50013,cd00024,hmmpanther:PTHR10799:SF658,hmmpanther:PTHR10799,Pfam_domain:PF00385,Gene3D:2.40.50.40,SMART_domains:SM00298,Superfamily_domains:SSF54160 HIGH 1 insertion 5 18 1 PASS GTG . . 60821817 CHD7 . GRCh38 chr8 60822060 60822060 + Missense_Mutation SNP A A T novel 7316-913 BS_GKRMQS5W A A c.2872A>T p.Ser958Cys p.S958C ENST00000423902 11/38 118 71 46 34 34 0 CHD7,missense_variant,p.Ser958Cys,ENST00000423902,NM_017780.3;CHD7,missense_variant,p.Ser958Cys,ENST00000525508,;CHD7,intron_variant,,ENST00000524602,NM_001316690.1; T ENSG00000171316 ENST00000423902 Transcript missense_variant 3351/11568 2872/8994 958/2997 S/C Agt/Tgt 1 1 CHD7 HGNC HGNC:20626 protein_coding YES CCDS47865.1 ENSP00000392028 Q9P2D1 UPI0000251DA6 NM_017780.3 deleterious(0.03) possibly_damaging(0.865) 11/38 mobidb-lite,hmmpanther:PTHR10799:SF658,hmmpanther:PTHR10799,Pfam_domain:PF00176,Superfamily_domains:SSF52540 MODERATE 1 SNV 5 1 PASS GAG . . 60822060 PREX2 . GRCh38 chr8 68115869 68115869 + Missense_Mutation SNP A A C 7316-913 BS_GKRMQS5W A A c.3263A>C p.Asn1088Thr p.N1088T ENST00000288368 26/40 129 121 6 34 34 0 PREX2,missense_variant,p.Asn1088Thr,ENST00000288368,NM_024870.3;PREX2,downstream_gene_variant,,ENST00000517617,; C ENSG00000046889 ENST00000288368 Transcript missense_variant 3540/10750 3263/4821 1088/1606 N/T aAt/aCt COSM4588179 1 1 PREX2 HGNC HGNC:22950 protein_coding YES CCDS6201.1 ENSP00000288368 Q70Z35 UPI0000375435 NM_024870.3 deleterious_low_confidence(0.04) benign(0.011) 26/40 hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1 1 MODERATE 1 SNV 1 1 1 PASS AAT . . 68115869 SCRT1 . GRCh38 chr8 144333592 144333592 + Missense_Mutation SNP G G A novel 7316-913 BS_GKRMQS5W G G c.640C>T p.Arg214Cys p.R214C ENST00000569446 2/2 120 110 10 27 27 0 SCRT1,missense_variant,p.Arg214Cys,ENST00000569446,NM_031309.5; A ENSG00000261678 ENST00000569446 Transcript missense_variant 752/3779 640/1047 214/348 R/C Cgc/Tgc 1 -1 SCRT1 HGNC HGNC:15950 protein_coding YES CCDS6421.1 ENSP00000455711 Q9BWW7 UPI0000457711 NM_031309.5 deleterious(0) probably_damaging(0.976) 2/2 PROSITE_profiles:PS50157,hmmpanther:PTHR44270:SF1,hmmpanther:PTHR44270,Gene3D:2.20.28.30,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CGG . . 144333592 FREM1 . GRCh38 chr9 14806756 14806756 + Missense_Mutation SNP A G G novel 7316-913 BS_GKRMQS5W A A c.3179T>C p.Leu1060Ser p.L1060S ENST00000422223 19/38 58 13 45 41 41 0 FREM1,missense_variant,p.Leu1060Ser,ENST00000422223,NM_144966.5;FREM1,missense_variant,p.Leu1060Ser,ENST00000380880,;FREM1,missense_variant,p.Leu1060Ser,ENST00000380875,; G ENSG00000164946 ENST00000422223 Transcript missense_variant 3995/10086 3179/6540 1060/2179 L/S tTg/tCg 1 -1 FREM1 HGNC HGNC:23399 protein_coding YES CCDS47952.1 ENSP00000412940 Q5H8C1 UPI000057A218 NM_144966.5 deleterious(0) probably_damaging(0.996) 19/38 hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24,Gene3D:2.60.120.640,Pfam_domain:PF16184 MODERATE 1 SNV 5 1 PASS CAA . . 14806756 PRSS3 . GRCh38 chr9 33797863 33797863 + Missense_Mutation SNP A A G rs151192741 7316-913 BS_GKRMQS5W A A c.406A>G p.Lys136Glu p.K136E ENST00000361005 3/5 62 46 15 42 41 1 PRSS3,missense_variant,p.Lys93Glu,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Lys136Glu,ENST00000361005,NM_007343.3;PRSS3,missense_variant,p.Lys79Glu,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Lys72Glu,ENST00000429677,NM_001197098.1;PRSS3,missense_variant,p.Lys91Glu,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,non_coding_transcript_exon_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,; G ENSG00000010438 ENST00000361005 Transcript missense_variant 406/966 406/915 136/304 K/E Aaa/Gaa rs151192741,COSM4163773,COSM4163774,COSM4163775,COSM4590353 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 tolerated(0.67) benign(0.001) 3/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS CAA . . 0.0002144 0.0007526 3.841e-05 0.0001584 5.457e-05 0.0002065 0.0004598 33797863 CNTNAP3 . GRCh38 chr9 39078723 39078723 + Missense_Mutation SNP G G A rs753820626 7316-913 BS_GKRMQS5W G G c.3640C>T p.Arg1214Trp p.R1214W ENST00000297668 22/24 94 65 24 44 40 1 CNTNAP3,missense_variant,p.Arg1214Trp,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Arg1133Trp,ENST00000377656,;CNTNAP3,intron_variant,,ENST00000493965,;CNTNAP3,downstream_gene_variant,,ENST00000477002,;,regulatory_region_variant,,ENSR00000235026,; A ENSG00000106714 ENST00000297668 Transcript missense_variant 3714/5064 3640/3867 1214/1288 R/W Cgg/Tgg rs753820626,COSM4592383 1 -1 CNTNAP3 HGNC HGNC:13834 protein_coding YES CCDS6616.1 ENSP00000297668 Q9BZ76 UPI000013E43B NM_033655.3 deleterious(0.03) benign(0.007) 22/24 hmmpanther:PTHR43925,hmmpanther:PTHR43925:SF6 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.004996 0.007438 0.004334 0.003752 0.007579 0.00359 0.005174 0.006803 0.001376 39078723 CNTNAP3B . GRCh38 chr9 41997755 41997756 + Splice_Region INS - - A rs1282826577 7316-913 BS_GKRMQS5W - - c.743-4dup ENST00000377561 60 44 14 21 20 0 CNTNAP3B,splice_region_variant,,ENST00000276974,;CNTNAP3B,splice_region_variant,,ENST00000341990,;CNTNAP3B,splice_region_variant,,ENST00000377561,NM_001201380.2;CNTNAP3B,splice_region_variant,,ENST00000612828,;CNTNAP3B,splice_region_variant,,ENST00000617422,;CNTNAP3B,splice_region_variant,,ENST00000479351,;CNTNAP3B,splice_region_variant,,ENST00000618777,;CNTNAP3B,splice_region_variant,,ENST00000619138,; A ENSG00000154529 ENST00000377561 Transcript splice_region_variant,intron_variant rs1282826577 1 -1 CNTNAP3B HGNC HGNC:32035 protein_coding YES CCDS75836.1 ENSP00000478671 Q96NU0 UPI00043788D3 NM_001201380.2 5/23 LOW 1 insertion 1 PASS TTA . . 41997755 CBWD3 . GRCh38 chr9 68285995 68285996 + Frame_Shift_Ins INS - - A rs200498038 7316-913 BS_GKRMQS5W - - c.777dup p.Leu260ThrfsTer12 p.L260Tfs*12 ENST00000360171 11/15 45 23 18 13 13 0 CBWD3,frameshift_variant,p.Leu260ThrfsTer12,ENST00000360171,NM_001291821.1,NM_201453.3;CBWD3,frameshift_variant,p.Leu241ThrfsTer12,ENST00000377342,;CBWD3,frameshift_variant,p.Leu212ThrfsTer12,ENST00000618217,;CBWD3,non_coding_transcript_exon_variant,,ENST00000614398,;CBWD3,non_coding_transcript_exon_variant,,ENST00000618921,;CBWD3,non_coding_transcript_exon_variant,,ENST00000622817,;CBWD3,3_prime_UTR_variant,,ENST00000621396,;CBWD3,3_prime_UTR_variant,,ENST00000377344,;CBWD3,3_prime_UTR_variant,,ENST00000615061,;CBWD3,3_prime_UTR_variant,,ENST00000621474,;CBWD3,3_prime_UTR_variant,,ENST00000612050,;CBWD3,3_prime_UTR_variant,,ENST00000622755,;CBWD3,non_coding_transcript_exon_variant,,ENST00000619322,;CBWD3,non_coding_transcript_exon_variant,,ENST00000614377,; A ENSG00000196873 ENST00000360171 Transcript frameshift_variant 1322-1323/2165 771-772/1188 257-258/395 -/X -/A rs200498038 1 1 CBWD3 HGNC HGNC:18519 protein_coding YES CCDS35038.2 ENSP00000353295 Q5JTY5 UPI0000160884 NM_001291821.1,NM_201453.3 11/15 hmmpanther:PTHR13748,hmmpanther:PTHR13748:SF56,Gene3D:3.30.1220.10 0.4906 0.4319 0.5951 0.4355 0.5934 0.4468 0.4375 0.474 HIGH 1 insertion 1 6 PASS AGA . . 0.5523 0.5047 0.583 0.6344 0.4737 0.5625 0.583 0.558 0.5167 68285995 TRPM6 . GRCh38 chr9 74761749 74761749 + Missense_Mutation SNP T T C novel 7316-913 BS_GKRMQS5W T T c.4732A>G p.Lys1578Glu p.K1578E ENST00000360774 27/39 141 128 11 24 23 0 TRPM6,missense_variant,p.Lys1578Glu,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Lys1573Glu,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Lys1573Glu,ENST00000449912,NM_001177310.1; C ENSG00000119121 ENST00000360774 Transcript missense_variant 4970/8425 4732/6069 1578/2022 K/E Aaa/Gaa 1 -1 TRPM6 HGNC HGNC:17995 protein_coding YES CCDS6647.1 ENSP00000354006 Q9BX84 UPI000006E041 NM_017662.4 deleterious_low_confidence(0.01) benign(0.214) 27/39 hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15 MODERATE 1 SNV 1 1 PASS TTG . . 74761749 PALM2-AKAP2 . GRCh38 chr9 110137507 110137507 + Missense_Mutation SNP C C T rs150767444 7316-913 BS_GKRMQS5W C C c.1963C>T p.Arg655Cys p.R655C ENST00000374530 8/11 124 106 15 21 21 0 PALM2-AKAP2,missense_variant,p.Arg655Cys,ENST00000374530,NM_007203.4;AKAP2,missense_variant,p.Arg513Cys,ENST00000374525,NM_001004065.4;PALM2-AKAP2,missense_variant,p.Arg655Cys,ENST00000302798,NM_147150.2;AKAP2,missense_variant,p.Arg513Cys,ENST00000434623,NM_001198656.1;AKAP2,missense_variant,p.Arg424Cys,ENST00000259318,NM_001136562.2;AKAP2,missense_variant,p.Arg473Cys,ENST00000480388,;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,;AKAP2,downstream_gene_variant,,ENST00000471798,;AKAP2,upstream_gene_variant,,ENST00000482335,;AKAP2,intron_variant,,ENST00000495980,; T ENSG00000157654 ENST00000374530 Transcript missense_variant 2143/7507 1963/3312 655/1103 R/C Cgt/Tgt rs150767444 1 1 PALM2-AKAP2 HGNC HGNC:33529 protein_coding YES CCDS35100.1 ENSP00000363654 UPI0000125755 NM_007203.4 tolerated(0.12) possibly_damaging(0.736) 8/11 mobidb-lite,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10 0.0002 0.0014 0.0003488 MODERATE SNV 2 PASS ACG . . 4.112e-05 2.979e-05 3.677e-05 0.0001625 110137507 CUBN . GRCh38 chr10 16835007 16835007 + Splice_Region SNP A A T rs776574207 7316-913 BS_GKRMQS5W A A c.10362+7T>A ENST00000377833 60 16 41 35 35 0 CUBN,splice_region_variant,,ENST00000377833,NM_001081.3; T ENSG00000107611 ENST00000377833 Transcript splice_region_variant,intron_variant rs776574207 1 -1 CUBN HGNC HGNC:2548 protein_coding YES CCDS7113.1 ENSP00000367064 O60494 UPI00001AE8F4 NM_001081.3 64/66 LOW 1 SNV 1 1 PASS CAT . . 16835007 CHAT . GRCh38 chr10 49646579 49646579 + Missense_Mutation SNP G G A rs536359684 7316-913 BS_GKRMQS5W G G c.1186G>A p.Val396Met p.V396M ENST00000337653 8/15 82 75 5 36 36 0 CHAT,missense_variant,p.Val314Met,ENST00000395562,NM_001142933.1;CHAT,missense_variant,p.Val396Met,ENST00000337653,NM_020549.4;CHAT,missense_variant,p.Val278Met,ENST00000351556,NM_001142929.1,NM_001142934.1,NM_020985.3;CHAT,missense_variant,p.Val278Met,ENST00000339797,NM_020984.3;CHAT,missense_variant,p.Val278Met,ENST00000395559,NM_020986.3;CHAT,missense_variant,p.Val17Met,ENST00000640822,;CHAT,missense_variant,p.Val17Met,ENST00000638282,;CHAT,3_prime_UTR_variant,,ENST00000466590,; A ENSG00000070748 ENST00000337653 Transcript missense_variant 1339/2458 1186/2247 396/748 V/M Gtg/Atg rs536359684 1 1 CHAT HGNC HGNC:1912 protein_coding YES CCDS7232.1 ENSP00000337103 P28329 UPI000013F1B9 NM_020549.4 tolerated(0.16) benign(0.013) 8/15 hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF14,Pfam_domain:PF00755,Superfamily_domains:SSF52777 0.0002 0.001 MODERATE 1 SNV 1 1 PASS CGT . . 2.844e-05 5.375e-05 3.249e-05 49646579 MYOF . GRCh38 chr10 93310143 93310143 + Nonsense_Mutation SNP C T T 7316-913 BS_GKRMQS5W C C c.6024G>A p.Trp2008Ter p.W2008* ENST00000359263 53/54 54 8 46 36 34 0 MYOF,stop_gained,p.Trp2008Ter,ENST00000359263,NM_013451.3;MYOF,stop_gained,p.Trp1995Ter,ENST00000358334,NM_133337.2;MYOF,3_prime_UTR_variant,,ENST00000463743,; T ENSG00000138119 ENST00000359263 Transcript stop_gained 6024/6719 6024/6186 2008/2061 W/* tgG/tgA COSM6007644,COSM6007643,COSM6007642 1 -1 MYOF HGNC HGNC:3656 protein_coding YES CCDS41551.1 ENSP00000352208 Q9NZM1 UPI000012FBA1 NM_013451.3 53/54 Pfam_domain:PF16165,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF55 1,1,1 HIGH 1 SNV 1 1,1,1 PASS ACC . . 93310143 FRG2B . GRCh38 chr10 133626618 133626618 + Missense_Mutation SNP T T C rs200811760 7316-913 BS_GKRMQS5W T T c.125A>G p.Glu42Gly p.E42G ENST00000425520 1/4 63 49 13 25 24 0 FRG2B,missense_variant,p.Glu42Gly,ENST00000443774,;FRG2B,missense_variant,p.Glu42Gly,ENST00000425520,NM_001080998.1;,regulatory_region_variant,,ENSR00000262296,; C ENSG00000225899 ENST00000425520 Transcript missense_variant 178/890 125/837 42/278 E/G gAa/gGa rs200811760,COSM4175977 1 -1 FRG2B HGNC HGNC:33518 protein_coding YES CCDS44502.1 ENSP00000401310 Q96QU4 UPI00000727C6 NM_001080998.1 tolerated(0.24) benign(0) 1/4 Prints_domain:PR02074,hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF4,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS TTC . . 0.1226 0.1371 0.06928 0.1572 0.11 0.07274 0.1604 0.08852 0.1097 133626618 PGGHG . GRCh38 chr11 290907 290907 + Missense_Mutation SNP G A A rs927574054 7316-913 BS_GKRMQS5W G G c.700G>A p.Ala234Thr p.A234T ENST00000409548 4/14 81 16 64 32 31 0 PGGHG,missense_variant,p.Ala234Thr,ENST00000409548,NM_025092.4;PGGHG,missense_variant,p.Ala234Thr,ENST00000409479,;PGGHG,missense_variant,p.Ala57Thr,ENST00000409655,;PGGHG,upstream_gene_variant,,ENST00000397660,;AC136475.3,downstream_gene_variant,,ENST00000525217,;AC136475.3,downstream_gene_variant,,ENST00000533924,;AC136475.3,downstream_gene_variant,,ENST00000534742,;PGGHG,non_coding_transcript_exon_variant,,ENST00000474221,;PGGHG,intron_variant,,ENST00000482937,;PGGHG,upstream_gene_variant,,ENST00000476372,;PGGHG,downstream_gene_variant,,ENST00000529087,; A ENSG00000142102 ENST00000409548 Transcript missense_variant 815/3687 700/2214 234/737 A/T Gcc/Acc rs927574054 1 1 PGGHG HGNC HGNC:26210 protein_coding YES CCDS31322.2 ENSP00000387185 Q32M88 A0A024R1Z9 UPI0000EE80CE NM_025092.4 deleterious(0.02) benign(0.103) 4/14 hmmpanther:PTHR11051,hmmpanther:PTHR11051:SF8,Superfamily_domains:SSF48208 MODERATE 1 SNV 1 PASS GGC . . 290907 PHF21A . GRCh38 chr11 45971324 45971324 + Missense_Mutation SNP G A A novel 7316-913 BS_GKRMQS5W G G c.404C>T p.Pro135Leu p.P135L ENST00000418153 7/18 57 8 48 35 35 0 PHF21A,missense_variant,p.Pro135Leu,ENST00000323180,NM_016621.3;PHF21A,missense_variant,p.Pro135Leu,ENST00000418153,NM_001101802.1;PHF21A,downstream_gene_variant,,ENST00000524497,;PHF21A,downstream_gene_variant,,ENST00000531959,;PHF21A,non_coding_transcript_exon_variant,,ENST00000525679,;PHF21A,3_prime_UTR_variant,,ENST00000532883,;PHF21A,non_coding_transcript_exon_variant,,ENST00000527401,; A ENSG00000135365 ENST00000418153 Transcript missense_variant 604/2730 404/2043 135/680 P/L cCt/cTt 1 -1 PHF21A HGNC HGNC:24156 protein_coding YES CCDS44578.1 ENSP00000398824 Q96BD5 UPI000006E1CB NM_001101802.1 deleterious(0) probably_damaging(0.998) 7/18 hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF6 MODERATE 1 SNV 2 1 PASS AGG . . 45971324 OR4A8 . GRCh38 chr11 54683238 54683238 + Missense_Mutation SNP A A T rs780153899 7316-913 BS_GKRMQS5W A A c.362A>T p.Tyr121Phe p.Y121F ENST00000418689 1/1 75 68 7 28 28 0 OR4A8,missense_variant,p.Tyr121Phe,ENST00000418689,; T ENSG00000225997 ENST00000418689 Transcript missense_variant 362/945 362/945 121/315 Y/F tAc/tTc rs780153899 1 1 OR4A8 HGNC HGNC:15165 polymorphic_pseudogene YES ENSP00000476467 deleterious_low_confidence(0.01) possibly_damaging(0.893) 1/1 MODERATE 1 SNV PASS TAC . . 54683238 OR4C15 . GRCh38 chr11 55554623 55554623 + Missense_Mutation SNP C A A rs17496724 7316-913 BS_GKRMQS5W C C c.317C>A p.Ala106Asp p.A106D ENST00000314644 1/1 64 3 61 23 17 6 OR4C15,missense_variant,p.Ala106Asp,ENST00000314644,NM_001001920.1;OR4C15,missense_variant,p.Ala52Asp,ENST00000642128,; A ENSG00000181939 ENST00000314644 Transcript missense_variant 317/1113 317/1113 106/370 A/D gCt/gAt rs17496724 1 1 OR4C15 HGNC HGNC:15171 protein_coding YES CCDS31501.1 ENSP00000324958 A0A2C9F2M4 UPI00003B288E NM_001001920.1 deleterious_low_confidence(0.01) possibly_damaging(0.543) 1/1 PROSITE_profiles:PS50262,cd15939,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 0.0240 0.0023 0.0259 0.001 0.0596 0.0389 0.009768 0.06099 MODERATE 1 SNV PASS GCT . . 0.04517 0.009412 0.02424 0.02244 0.000116 0.0617 0.0637 0.04958 0.0384 55554623 C11orf68 . GRCh38 chr11 65919009 65919011 + In_Frame_Del DEL GCC GCC - rs748792467 7316-913 BS_GKRMQS5W GCC GCC c.21_23del p.Ala8del p.A8del ENST00000438576 1/2 94 80 6 32 29 0 C11orf68,inframe_deletion,p.Ala8del,ENST00000438576,NM_001135635.1;C11orf68,inframe_deletion,p.Ala8del,ENST00000449692,NM_031450.3;DRAP1,upstream_gene_variant,,ENST00000312515,NM_006442.3;DRAP1,upstream_gene_variant,,ENST00000376991,;DRAP1,upstream_gene_variant,,ENST00000525501,;DRAP1,upstream_gene_variant,,ENST00000527119,;C11orf68,upstream_gene_variant,,ENST00000530188,;DRAP1,upstream_gene_variant,,ENST00000532933,;DRAP1,upstream_gene_variant,,ENST00000525190,;DRAP1,upstream_gene_variant,,ENST00000530791,;DRAP1,upstream_gene_variant,,ENST00000531121,;DRAP1,upstream_gene_variant,,ENST00000534333,;,regulatory_region_variant,,ENSR00000040907,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0162.2,; - ENSG00000175573 ENST00000438576 Transcript inframe_deletion 107-109/1619 21-23/882 7-8/293 AA/A gcGGCc/gcc rs748792467 1 -1 C11orf68 HGNC HGNC:28801 protein_coding YES CCDS44652.1 ENSP00000398350 Q9H3H3 UPI0000228EAC NM_001135635.1 1/2 Low_complexity_(Seg):seg,mobidb-lite MODERATE deletion 2 PASS CGGCCG . . 0.01033 0.04545 0.009868 0.01 65919008 KMT5B . GRCh38 chr11 68173804 68173804 + Missense_Mutation SNP C G G novel 7316-913 BS_GKRMQS5W C C c.653G>C p.Trp218Ser p.W218S ENST00000304363 6/11 74 10 63 35 35 0 KMT5B,missense_variant,p.Trp218Ser,ENST00000304363,NM_001300907.1,NM_017635.4;KMT5B,missense_variant,p.Trp218Ser,ENST00000615954,NM_001300908.1;KMT5B,missense_variant,p.Trp218Ser,ENST00000405515,;KMT5B,missense_variant,p.Trp218Ser,ENST00000401547,NM_016028.4;KMT5B,missense_variant,p.Trp195Ser,ENST00000402185,NM_001300909.1;KMT5B,missense_variant,p.Trp218Ser,ENST00000402789,;KMT5B,downstream_gene_variant,,ENST00000453170,;KMT5B,downstream_gene_variant,,ENST00000458496,;KMT5B,splice_region_variant,,ENST00000533271,;KMT5B,missense_variant,p.Trp218Ser,ENST00000441488,;KMT5B,splice_region_variant,,ENST00000427752,;KMT5B,splice_region_variant,,ENST00000524672,;KMT5B,splice_region_variant,,ENST00000323599,; G ENSG00000110066 ENST00000304363 Transcript missense_variant,splice_region_variant 1007/5837 653/2658 218/885 W/S tGg/tCg 1 -1 KMT5B HGNC HGNC:24283 protein_coding YES CCDS31623.1 ENSP00000305899 Q4FZB7 UPI00003FF22C NM_001300907.1,NM_017635.4 deleterious(0) probably_damaging(0.993) 6/11 Gene3D:2.170.270.10,PROSITE_profiles:PS50280,PROSITE_profiles:PS51570,hmmpanther:PTHR12977,hmmpanther:PTHR12977:SF12,SMART_domains:SM00317,Superfamily_domains:SSF82199 MODERATE 1 SNV 5 1 PASS CCA . . 68173804 CEP164 . GRCh38 chr11 117351932 117351932 + Frame_Shift_Del DEL A A - rs757893687 7316-913 BS_GKRMQS5W A A c.347del p.Lys116ArgfsTer22 p.K116Rfs*22 ENST00000278935 5/33 78 63 9 37 33 0 CEP164,frameshift_variant,p.Lys116ArgfsTer22,ENST00000278935,NM_014956.4,NM_001271933.1;CEP164,frameshift_variant,p.Lys52ArgfsTer47,ENST00000639320,;CEP164,frameshift_variant,p.Lys70ArgfsTer22,ENST00000525416,;CEP164,frameshift_variant,,ENST00000525734,;CEP164,frameshift_variant,p.Lys116ArgfsTer?,ENST00000527609,;CEP164,frameshift_variant,p.Lys70ArgfsTer22,ENST00000533153,;CEP164,frameshift_variant,p.Lys116ArgfsTer?,ENST00000533570,;CEP164,upstream_gene_variant,,ENST00000533675,; - ENSG00000110274 ENST00000278935 Transcript frameshift_variant 484/5630 337/4383 113/1460 K/X Aaa/aa rs757893687,COSM1351515 1 1 CEP164 HGNC HGNC:29182 protein_coding YES CCDS31683.1 ENSP00000278935 Q9UPV0 UPI00001FA422 NM_014956.4,NM_001271933.1 5/33 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR18902:SF27,hmmpanther:PTHR18902,Gene3D:2.20.70.10 0,1 HIGH 1 deletion 1 10 0,1 1 PASS AGAA . . 0.0602 0.05627 0.06121 0.04011 0.05682 0.06071 0.06269 0.06308 0.05955 117351931 CCDC153 . GRCh38 chr11 119193198 119193198 + Missense_Mutation SNP C T T rs2301574 7316-913 BS_GKRMQS5W C C c.302G>A p.Arg101His p.R101H ENST00000503566 4/6 67 5 59 27 20 6 CCDC153,missense_variant,p.Arg101His,ENST00000503566,;CCDC153,missense_variant,p.Arg101His,ENST00000415318,NM_001145018.1;PDZD3,downstream_gene_variant,,ENST00000322712,NM_024791.3;PDZD3,downstream_gene_variant,,ENST00000355547,NM_001168468.1;PDZD3,downstream_gene_variant,,ENST00000525131,;PDZD3,downstream_gene_variant,,ENST00000531114,;CCDC153,non_coding_transcript_exon_variant,,ENST00000375140,;CCDC153,downstream_gene_variant,,ENST00000447948,;PDZD3,downstream_gene_variant,,ENST00000527028,;PDZD3,downstream_gene_variant,,ENST00000529098,;PDZD3,downstream_gene_variant,,ENST00000534790,; T ENSG00000248712 ENST00000503566 Transcript missense_variant 302/1295 302/633 101/210 R/H cGc/cAc rs2301574,COSM3752172,COSM147337 1 -1 CCDC153 HGNC HGNC:27446 protein_coding YES CCDS44753.1 ENSP00000423567 Q494R4 UPI0001761663 tolerated(0.66) benign(0.006) 4/6 Gene3D:1.20.58.130,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR28656 0.2450 0.2595 0.2089 0.3542 0.2455 0.138 0.2606 0.2481 0,1,1 MODERATE SNV 5 0,1,1 PASS GCG . . 0.232 0.2649 0.1576 0.3158 0.3805 0.2297 0.2412 0.2344 0.1544 119193198 ACRBP . GRCh38 chr12 6638397 6638397 + Missense_Mutation SNP C C T rs377230865 7316-913 BS_GKRMQS5W C C c.1517G>A p.Arg506His p.R506H ENST00000229243 10/10 121 68 49 37 37 0 ACRBP,missense_variant,p.Arg506His,ENST00000229243,NM_032489.2;ACRBP,missense_variant,p.Arg473His,ENST00000414226,;LPAR5,upstream_gene_variant,,ENST00000329858,NM_020400.5;ACRBP,non_coding_transcript_exon_variant,,ENST00000540513,;LPAR5,upstream_gene_variant,,ENST00000540335,;ACRBP,downstream_gene_variant,,ENST00000542357,; T ENSG00000111644 ENST00000229243 Transcript missense_variant 1611/1933 1517/1632 506/543 R/H cGc/cAc rs377230865 1 -1 ACRBP HGNC HGNC:17195 protein_coding YES CCDS8554.1 ENSP00000229243 Q8NEB7 A0A140VJD6 UPI000006CCAA NM_032489.2 deleterious(0) probably_damaging(0.996) 10/10 Gene3D:3.30.60.30,hmmpanther:PTHR21362,Superfamily_domains:SSF100895 0.0001163 MODERATE 1 SNV 1 PASS GCG . . 5.763e-05 4.6e-05 0.0002927 6638397 TAS2R31 . GRCh38 chr12 11030876 11030876 + Missense_Mutation SNP G G A rs372544509 7316-913 BS_GKRMQS5W G G c.460C>T p.Arg154Trp p.R154W ENST00000390675 1/1 124 104 13 37 37 0 TAS2R31,missense_variant,p.Arg154Trp,ENST00000390675,NM_176885.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; A ENSG00000256436 ENST00000390675 Transcript missense_variant 532/1021 460/930 154/309 R/W Cgg/Tgg rs372544509,COSM4146591 1 -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538 UPI000000D820 NM_176885.2 tolerated(0.51) benign(0.003) 1/1 cd15027,hmmpanther:PTHR11394:SF79,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS CGT . . 0.005174 0.001535 0.01342 0.001453 0.003334 0.003221 0.005393 0.004028 0.002047 11030876 TAS2R31 . GRCh38 chr12 11030907 11030907 + Missense_Mutation SNP T T A rs115707514 7316-913 BS_GKRMQS5W T T c.429A>T p.Gln143His p.Q143H ENST00000390675 1/1 135 105 28 40 39 1 TAS2R31,missense_variant,p.Gln143His,ENST00000390675,NM_176885.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; A ENSG00000256436 ENST00000390675 Transcript missense_variant 501/1021 429/930 143/309 Q/H caA/caT rs115707514,COSM4203179 1 -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538 UPI000000D820 NM_176885.2 tolerated(1) benign(0.003) 1/1 Transmembrane_helices:TMhelix,cd15027,hmmpanther:PTHR11394:SF79,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS GTT . . 0.008774 0.002475 0.01178 0.00246 0.008415 0.01162 0.01185 0.004153 0.002683 11030907 PHLDA1 . GRCh38 chr12 76030759 76030764 + In_Frame_Del DEL TGCGGC TGCGGC - novel 7316-913 BS_GKRMQS5W TGCGGC TGCGGC c.978_983del p.Pro331_Gln332del p.P331_Q332del ENST00000266671 1/2 106 63 34 38 38 0 PHLDA1,inframe_deletion,p.Pro331_Gln332del,ENST00000266671,;PHLDA1,inframe_deletion,p.Pro331_Gln332del,ENST00000619060,NM_007350.3;PHLDA1,inframe_deletion,p.Pro190_Gln191del,ENST00000602540,;AC011611.3,intron_variant,,ENST00000552367,;AC011611.4,upstream_gene_variant,,ENST00000547721,;,regulatory_region_variant,,ENSR00000054125,; - ENSG00000139289 ENST00000266671 Transcript inframe_deletion 3169-3174/8069 978-983/1206 326-328/401 QPQ/Q caGCCGCAa/caa 1 -1 PHLDA1 HGNC HGNC:8933 protein_coding YES CCDS31861.1 ENSP00000266671 Q8WV24 UPI000013D704 1/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15478,hmmpanther:PTHR15478:SF4 MODERATE 1 deletion 1 PASS GTTGCGGCT . . 76030758 ACACB . GRCh38 chr12 109222543 109222543 + Missense_Mutation SNP G G A rs146250483 7316-913 BS_GKRMQS5W G G c.3601G>A p.Glu1201Lys p.E1201K ENST00000338432 25/53 99 56 38 33 33 0 ACACB,missense_variant,p.Glu1201Lys,ENST00000338432,;ACACB,missense_variant,p.Glu1201Lys,ENST00000377848,NM_001093.3;ACACB,5_prime_UTR_variant,,ENST00000377854,; A ENSG00000076555 ENST00000338432 Transcript missense_variant 3720/9360 3601/7377 1201/2458 E/K Gag/Aag rs146250483 1 1 ACACB HGNC HGNC:85 protein_coding YES CCDS31898.1 ENSP00000341044 O00763 UPI0000DBEEFB tolerated(0.21) possibly_damaging(0.743) 25/53 Pfam_domain:PF08326,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF94 0.000227 0.0001163 MODERATE 1 SNV 1 PASS CGA . . 0.0001178 0.0001307 0.0001191 0.0002059 109222543 PABPC3 . GRCh38 chr13 25097562 25097562 + Missense_Mutation SNP T T C rs201952806 7316-913 BS_GKRMQS5W T T c.1364T>C p.Val455Ala p.V455A ENST00000281589 1/1 62 53 9 33 33 0 PABPC3,missense_variant,p.Val455Ala,ENST00000281589,NM_030979.2;,regulatory_region_variant,,ENSR00000271233,; C ENSG00000151846 ENST00000281589 Transcript missense_variant 1695/3387 1364/1896 455/631 V/A gTa/gCa rs201952806,COSM4591682 1 1 PABPC3 HGNC HGNC:8556 protein_coding YES CCDS9311.1 ENSP00000281589 Q9H361 Q5VX58 UPI00001311AB NM_030979.2 tolerated(0.71) benign(0) 1/1 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,TIGRFAM_domain:TIGR01628 0,1 MODERATE 1 SNV 0,1 PASS GTA . . 25097562 VWA8 . GRCh38 chr13 41787551 41787551 + Splice_Region SNP A A T novel 7316-913 BS_GKRMQS5W A A c.2064-8T>A ENST00000379310 41 32 7 32 30 0 VWA8,splice_region_variant,,ENST00000281496,NM_001009814.1;VWA8,splice_region_variant,,ENST00000379310,NM_015058.1; T ENSG00000102763 ENST00000379310 Transcript splice_region_variant,intron_variant 1 -1 VWA8 HGNC HGNC:29071 protein_coding YES CCDS41881.1 ENSP00000368612 A3KMH1 UPI00001606AC NM_015058.1 17/44 LOW 1 SNV 2 PASS GAT . . 41787551 SCEL . GRCh38 chr13 77609060 77609060 + Missense_Mutation SNP C C T 7316-913 BS_GKRMQS5W C C c.1220C>T p.Ser407Phe p.S407F ENST00000349847 21/33 62 48 11 34 33 0 SCEL,missense_variant,p.Ser365Phe,ENST00000535157,NM_001160706.1;SCEL,missense_variant,p.Ser387Phe,ENST00000377246,NM_003843.3;SCEL,missense_variant,p.Ser407Phe,ENST00000349847,NM_144777.2;SCEL-AS1,upstream_gene_variant,,ENST00000456280,;SCEL-AS1,upstream_gene_variant,,ENST00000457528,;SCEL,splice_region_variant,,ENST00000469982,;SCEL,splice_region_variant,,ENST00000471491,; T ENSG00000136155 ENST00000349847 Transcript missense_variant,splice_region_variant 1304/2386 1220/2067 407/688 S/F tCc/tTc COSM3469795 1 1 SCEL HGNC HGNC:10573 protein_coding YES CCDS9459.1 ENSP00000302579 O95171 UPI000013CFF1 NM_144777.2 deleterious(0.03) probably_damaging(0.93) 21/33 hmmpanther:PTHR15468,hmmpanther:PTHR15468:SF7 1 MODERATE 1 SNV 1 1 PASS TCC . . 77609060 RALGAPA1 . GRCh38 chr14 35748797 35748797 + Nonsense_Mutation SNP C C A novel 7316-913 BS_GKRMQS5W C C c.1039G>T p.Glu347Ter p.E347* ENST00000637992 10/41 81 34 38 33 27 0 RALGAPA1,stop_gained,p.Glu347Ter,ENST00000637992,NM_001330075.2,NM_001346248.1;RALGAPA1,stop_gained,p.Glu347Ter,ENST00000307138,NM_194301.2,NM_001346246.1;RALGAPA1,stop_gained,p.Glu347Ter,ENST00000389698,NM_014990.1,NM_001346243.1;RALGAPA1,stop_gained,p.Glu347Ter,ENST00000382366,NM_001283043.1;RALGAPA1,stop_gained,p.Glu347Ter,ENST00000553892,NM_001283044.1;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554704,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000555828,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554652,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000557104,; A ENSG00000174373 ENST00000637992 Transcript stop_gained 1418/8512 1039/7488 347/2495 E/* Gaa/Taa 1 -1 RALGAPA1 HGNC HGNC:17770 protein_coding YES CCDS81797.1 ENSP00000490119 A0A1B0GUI1 UPI0007DC5B32 NM_001330075.2,NM_001346248.1 10/41 mobidb-lite,hmmpanther:PTHR10063:SF3,hmmpanther:PTHR10063 HIGH 1 SNV 5 PASS TCT . . 35748797 FANCM . GRCh38 chr14 45176707 45176707 + Missense_Mutation SNP A A G novel 7316-913 BS_GKRMQS5W A A c.3953A>G p.Glu1318Gly p.E1318G ENST00000267430 14/23 72 66 6 47 47 0 FANCM,missense_variant,p.Glu1318Gly,ENST00000267430,NM_020937.3;FANCM,missense_variant,p.Glu1292Gly,ENST00000542564,NM_001308133.1;FANCM,missense_variant,p.Glu834Gly,ENST00000556250,;FANCM,missense_variant,p.Glu251Gly,ENST00000554809,;FANCM,upstream_gene_variant,,ENST00000555013,; G ENSG00000187790 ENST00000267430 Transcript missense_variant 4038/7111 3953/6147 1318/2048 E/G gAa/gGa 1 1 FANCM HGNC HGNC:23168 protein_coding YES CCDS32070.1 ENSP00000267430 Q8IYD8 UPI000059F032 NM_020937.3 tolerated(0.08) benign(0.015) 14/23 hmmpanther:PTHR14025:SF20,hmmpanther:PTHR14025 MODERATE 1 SNV 1 1 PASS GAA . . 45176707 FMN1 . GRCh38 chr15 32900106 32900106 + Missense_Mutation SNP C C T rs1245966942 7316-913 BS_GKRMQS5W C C c.3527G>A p.Ser1176Asn p.S1176N ENST00000616417 14/21 92 53 39 36 36 0 FMN1,missense_variant,p.Ser1176Asn,ENST00000616417,NM_001277313.1;FMN1,missense_variant,p.Ser953Asn,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Ser1176Asn,ENST00000559047,;FMN1,missense_variant,p.Ser1078Asn,ENST00000561249,;FMN1,missense_variant,p.Ser130Asn,ENST00000560317,;FMN1,3_prime_UTR_variant,,ENST00000558711,; T ENSG00000248905 ENST00000616417 Transcript missense_variant 4031/13529 3527/4260 1176/1419 S/N aGc/aAc rs1245966942 1 -1 FMN1 HGNC HGNC:3768 protein_coding YES CCDS61581.1 ENSP00000479134 Q68DA7 UPI0001AE68B4 NM_001277313.1 deleterious(0.02) possibly_damaging(0.47) 14/21 PROSITE_profiles:PS51444,hmmpanther:PTHR13037:SF11,hmmpanther:PTHR13037,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447,Prints_domain:PR00828 MODERATE 1 SNV 5 PASS GCT . . 4.067e-06 3.249e-05 32900106 MINDY2 . GRCh38 chr15 58831830 58831830 + Missense_Mutation SNP T T G novel 7316-913 BS_GKRMQS5W T T c.1282T>G p.Leu428Val p.L428V ENST00000559228 6/9 91 53 36 39 39 0 MINDY2,missense_variant,p.Leu428Val,ENST00000559228,NM_001040450.2;MINDY2,missense_variant,p.Leu428Val,ENST00000450403,NM_001040453.2;MINDY2,downstream_gene_variant,,ENST00000559745,;MINDY2,3_prime_UTR_variant,,ENST00000560289,;MINDY2,intron_variant,,ENST00000316848,; G ENSG00000128923 ENST00000559228 Transcript missense_variant 1364/9238 1282/1866 428/621 L/V Tta/Gta 1 1 MINDY2 HGNC HGNC:26954 protein_coding YES CCDS42046.1 ENSP00000452885 Q8NBR6 UPI0000D74C47 NM_001040450.2 deleterious(0.01) possibly_damaging(0.816) 6/9 hmmpanther:PTHR18063,hmmpanther:PTHR18063:SF8 MODERATE 1 SNV 2 PASS ATT . . 58831830 CES1 . GRCh38 chr16 55811015 55811015 + Splice_Region SNP A A C rs2302722 7316-913 BS_GKRMQS5W A A c.1087-5T>G ENST00000360526 42 34 5 24 24 0 CES1,splice_region_variant,,ENST00000360526,NM_001025195.1;CES1,splice_region_variant,,ENST00000361503,NM_001025194.1;CES1,splice_region_variant,,ENST00000422046,NM_001266.4;CES1,upstream_gene_variant,,ENST00000563241,;CES1,splice_region_variant,,ENST00000569260,;CES1,intron_variant,,ENST00000565568,; C ENSG00000198848 ENST00000360526 Transcript splice_region_variant,intron_variant rs2302722,COSM1742483 1 -1 CES1 HGNC HGNC:1863 protein_coding YES CCDS32450.1 ENSP00000353720 P23141 UPI000054B390 NM_001025195.1 9/13 0.1500 0.0666 0.1513 0.2044 0.168 0.1871 0,1 27662362 LOW 1 SNV 1 0,1 PASS AAA . . 0.1658 0.08307 0.1452 0.07384 0.2249 0.1299 0.1728 0.1436 0.1979 55811015 CBFA2T3 . GRCh38 chr16 88976662 88976662 + Missense_Mutation SNP C C G novel 7316-913 BS_GKRMQS5W C C c.146G>C p.Gly49Ala p.G49A ENST00000268679 1/12 65 21 44 30 30 0 CBFA2T3,missense_variant,p.Gly49Ala,ENST00000268679,NM_005187.5;CBFA2T3,missense_variant,p.Gly49Ala,ENST00000563640,;,regulatory_region_variant,,ENSR00000089616,; G ENSG00000129993 ENST00000268679 Transcript missense_variant 543/4477 146/1962 49/653 G/A gGc/gCc 1 -1 CBFA2T3 HGNC HGNC:1537 protein_coding YES CCDS10972.1 ENSP00000268679 O75081 UPI0000167F93 NM_005187.5 tolerated_low_confidence(0.65) benign(0.006) 1/12 hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GCC . . 88976662 ZNF276 . GRCh38 chr16 89723490 89723490 + Missense_Mutation SNP T C C rs6500437 7316-913 BS_GKRMQS5W T T c.787T>C p.Trp263Arg p.W263R ENST00000443381 4/11 61 9 51 30 23 7 ZNF276,missense_variant,p.Trp188Arg,ENST00000289816,NM_152287.3;ZNF276,missense_variant,p.Trp263Arg,ENST00000443381,NM_001113525.1;ZNF276,synonymous_variant,p.His181=,ENST00000568064,;VPS9D1,upstream_gene_variant,,ENST00000389386,NM_004913.2;VPS9D1,upstream_gene_variant,,ENST00000561976,;ZNF276,missense_variant,p.Trp263Arg,ENST00000568295,;ZNF276,missense_variant,p.Trp188Arg,ENST00000562530,;ZNF276,missense_variant,p.Trp2Arg,ENST00000563541,;ZNF276,non_coding_transcript_exon_variant,,ENST00000563983,;ZNF276,non_coding_transcript_exon_variant,,ENST00000561536,;VPS9D1,upstream_gene_variant,,ENST00000563798,;ZNF276,upstream_gene_variant,,ENST00000569426,; C ENSG00000158805 ENST00000443381 Transcript missense_variant 884/2267 787/1845 263/614 W/R Tgg/Cgg rs6500437,COSM1380561,COSM1380560 1 1 ZNF276 HGNC HGNC:23330 protein_coding YES CCDS45554.1 ENSP00000415836 Q8N554 UPI0000EE7D9C NM_001113525.1 tolerated(0.2) benign(0.007) 4/11 hmmpanther:PTHR44790,Gene3D:3.30.160.60 0.5435 0.5809 0.5562 0.7282 0.3101 0.5337 0.5166 0.2929 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ATG . . 0.4175 0.5318 0.6219 0.2295 0.7563 0.398 0.2878 0.3666 0.4978 89723490 CEP131 . GRCh38 chr17 81200340 81200340 + Missense_Mutation SNP C C A rs1486789755 7316-913 BS_GKRMQS5W C C c.895G>T p.Ala299Ser p.A299S ENST00000269392 8/26 89 48 41 35 35 0 CEP131,missense_variant,p.Ala299Ser,ENST00000269392,NM_001319228.1;CEP131,missense_variant,p.Ala299Ser,ENST00000450824,NM_014984.3;CEP131,missense_variant,p.Ala299Ser,ENST00000374782,NM_001009811.3;CEP131,missense_variant,p.Ala299Ser,ENST00000575907,NM_001319229.1;CEP131,upstream_gene_variant,,ENST00000573053,;AC027601.2,downstream_gene_variant,,ENST00000571085,;CEP131,non_coding_transcript_exon_variant,,ENST00000570482,; A ENSG00000141577 ENST00000269392 Transcript missense_variant 1143/3673 895/3252 299/1083 A/S Gcc/Tcc rs1486789755 1 -1 CEP131 HGNC HGNC:29511 protein_coding YES CCDS82215.1 ENSP00000269392 Q9UPN4 UPI00001C1FC8 NM_001319228.1 tolerated(1) benign(0.001) 8/26 hmmpanther:PTHR31540 MODERATE 1 SNV 1 PASS GCC . . 81200340 SEH1L . GRCh38 chr18 12955554 12955554 + Missense_Mutation SNP T T A 7316-913 BS_GKRMQS5W T T c.254T>A p.Val85Glu p.V85E ENST00000399892 3/9 95 61 31 37 34 0 SEH1L,missense_variant,p.Val85Glu,ENST00000262124,NM_031216.3;SEH1L,missense_variant,p.Val85Glu,ENST00000399892,NM_001013437.1;SEH1L,missense_variant,p.Val85Glu,ENST00000587761,;SEH1L,missense_variant,p.Val59Glu,ENST00000592170,;SEH1L,missense_variant,p.Val68Glu,ENST00000589446,;SEH1L,intron_variant,,ENST00000585730,;SEH1L,non_coding_transcript_exon_variant,,ENST00000588251,; A ENSG00000085415 ENST00000399892 Transcript missense_variant 355/1846 254/1266 85/421 V/E gTa/gAa COSM4580320 1 1 SEH1L HGNC HGNC:30379 protein_coding YES CCDS32791.1 ENSP00000382779 Q96EE3 UPI0000070285 NM_001013437.1 deleterious(0) probably_damaging(0.991) 3/9 PROSITE_profiles:PS50294,hmmpanther:PTHR11024,hmmpanther:PTHR11024:SF3,Gene3D:1.10.10.670,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320 1 MODERATE 1 SNV 1 1 PASS GTA . . 12955554 GREB1L . GRCh38 chr18 21403972 21403972 + Nonsense_Mutation SNP C C A novel 7316-913 BS_GKRMQS5W C C c.810C>A p.Tyr270Ter p.Y270* ENST00000580732 7/33 107 59 48 28 27 0 GREB1L,stop_gained,p.Tyr270Ter,ENST00000580732,;GREB1L,stop_gained,p.Tyr270Ter,ENST00000424526,NM_001142966.1;GREB1L,stop_gained,p.Tyr270Ter,ENST00000269218,;GREB1L,stop_gained,p.Tyr68Ter,ENST00000579454,;AC015878.1,intron_variant,,ENST00000584611,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578368,;GREB1L,non_coding_transcript_exon_variant,,ENST00000584446,; A ENSG00000141449 ENST00000580732 Transcript stop_gained 1191/8749 810/5772 270/1923 Y/* taC/taA 1 1 GREB1L HGNC HGNC:31042 protein_coding YES CCDS45836.1 ENSP00000464162 Q9C091 UPI0001642876 7/33 hmmpanther:PTHR15720:SF12,hmmpanther:PTHR15720,Pfam_domain:PF15782,mobidb-lite HIGH SNV 5 1 PASS ACA . . 21403972 WDR7 . GRCh38 chr18 56672609 56672609 + Missense_Mutation SNP G G A rs765140281 7316-913 BS_GKRMQS5W G G c.94G>A p.Ala32Thr p.A32T ENST00000254442 2/28 97 44 52 41 41 0 WDR7,missense_variant,p.Ala32Thr,ENST00000254442,NM_015285.2;WDR7,missense_variant,p.Ala32Thr,ENST00000357574,NM_052834.2;WDR7,missense_variant,p.Ala32Thr,ENST00000615645,;WDR7,missense_variant,p.Ala32Thr,ENST00000593058,;WDR7,intron_variant,,ENST00000589935,; A ENSG00000091157 ENST00000254442 Transcript missense_variant 305/14083 94/4473 32/1490 A/T Gcc/Acc rs765140281 1 1 WDR7 HGNC HGNC:13490 protein_coding YES CCDS11962.1 ENSP00000254442 Q9Y4E6 UPI000013CE33 NM_015285.2 tolerated(0.44) benign(0.003) 2/28 PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR44099,hmmpanther:PTHR44099:SF3,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320 MODERATE 1 SNV 1 PASS GGC . . 4.077e-06 8.997e-06 56672609 TNFSF14 . GRCh38 chr19 6665087 6665087 + Missense_Mutation SNP C C T rs772372888 7316-913 BS_GKRMQS5W C C c.562G>A p.Gly188Arg p.G188R ENST00000599359 5/5 82 45 37 34 33 0 TNFSF14,missense_variant,p.Gly152Arg,ENST00000245912,NM_172014.3;TNFSF14,missense_variant,p.Gly188Arg,ENST00000599359,NM_003807.4; T ENSG00000125735 ENST00000599359 Transcript missense_variant 944/1476 562/723 188/240 G/R Gga/Aga rs772372888,COSM117151 1 -1 TNFSF14 HGNC HGNC:11930 protein_coding YES CCDS12171.1 ENSP00000469049 O43557 UPI000013CBC2 NM_003807.4 tolerated(0.1) benign(0.129) 5/5 PROSITE_profiles:PS50049,cd00184,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF34,Gene3D:2.60.120.40,Pfam_domain:PF00229,SMART_domains:SM00207,Superfamily_domains:SSF49842 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 2.847e-05 0.0001308 0.0001017 0.000174 4.487e-05 6665087 GSK3A . GRCh38 chr19 42240085 42240085 + Missense_Mutation SNP G G C 7316-913 BS_GKRMQS5W G G c.341C>G p.Ser114Cys p.S114C ENST00000222330 2/11 87 68 19 22 22 0 GSK3A,missense_variant,p.Ser32Cys,ENST00000398249,;GSK3A,missense_variant,p.Ser114Cys,ENST00000222330,NM_019884.2;AC006486.1,missense_variant,p.Ser27Cys,ENST00000594664,;AC006486.2,upstream_gene_variant,,ENST00000624246,;GSK3A,missense_variant,p.Ser114Cys,ENST00000453535,; C ENSG00000105723 ENST00000222330 Transcript missense_variant 469/2188 341/1452 114/483 S/C tCc/tGc COSM5649329 1 -1 GSK3A HGNC HGNC:4616 protein_coding YES CCDS12599.1 ENSP00000222330 P49840 A0A024R0L5 UPI00000012B4 NM_019884.2 deleterious(0.03) possibly_damaging(0.593) 2/11 Gene3D:3.30.200.20,hmmpanther:PTHR24057,hmmpanther:PTHR24057:SF14,cd14137 1 MODERATE 1 SNV 1 1 PASS GGA . . 42240085 KCNC3 . GRCh38 chr19 50323628 50323628 + Missense_Mutation SNP C C T 7316-913 BS_GKRMQS5W C C c.1325G>A p.Arg442His p.R442H ENST00000477616 2/5 72 64 8 27 26 0 KCNC3,missense_variant,p.Arg442His,ENST00000376959,;KCNC3,missense_variant,p.Arg442His,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000474951,; T ENSG00000131398 ENST00000477616 Transcript missense_variant 1620/3176 1325/2274 442/757 R/H cGc/cAc COSM269414 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 deleterious(0) probably_damaging(0.997) 2/5 Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF184,Superfamily_domains:SSF81324 1 MODERATE 1 SNV 1 1 1 PASS GCG . . 50323628 PLCB1 . GRCh38 chr20 8740389 8740389 + Missense_Mutation SNP C C T rs202199288 7316-913 BS_GKRMQS5W C C c.2354C>T p.Thr785Met p.T785M ENST00000338037 22/32 93 61 28 33 33 0 PLCB1,missense_variant,p.Thr785Met,ENST00000378641,NM_182734.2;PLCB1,missense_variant,p.Thr785Met,ENST00000338037,NM_015192.3;PLCB1,missense_variant,p.Thr705Met,ENST00000612075,;PLCB1,missense_variant,p.Thr705Met,ENST00000617005,;PLCB1,missense_variant,p.Thr684Met,ENST00000637919,;PLCB1,missense_variant,p.Thr785Met,ENST00000378637,;PLCB1,missense_variant,p.Thr684Met,ENST00000625874,;PLCB1,missense_variant,p.Thr684Met,ENST00000626966,;PLCB1,missense_variant,p.Thr104Met,ENST00000439627,;PLCB1,non_coding_transcript_exon_variant,,ENST00000635830,;PLCB1,non_coding_transcript_exon_variant,,ENST00000636825,;PLCB1,missense_variant,p.Thr526Met,ENST00000487210,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,; T ENSG00000182621 ENST00000338037 Transcript missense_variant 2741/7092 2354/3651 785/1216 T/M aCg/aTg rs202199288,COSM4294692,COSM2933810,COSM2933809 1 1 PLCB1 HGNC HGNC:15917 protein_coding YES CCDS13102.1 ENSP00000338185 Q9NQ66 UPI0000131A8F NM_015192.3 tolerated(0.24) benign(0.007) 22/32 Gene3D:2.60.40.150,PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Superfamily_domains:SSF49562,cd00275 0.0002 0.001 0.0001163 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 1 PASS ACG . . 5.795e-05 0.000132 5.944e-05 0.0002268 5.423e-05 8740389 TCEA2 . GRCh38 chr20 64068070 64068070 + Missense_Mutation SNP G G C novel 7316-913 BS_GKRMQS5W G G c.265G>C p.Glu89Gln p.E89Q ENST00000343484 4/10 108 72 35 22 22 0 TCEA2,missense_variant,p.Glu89Gln,ENST00000395053,;TCEA2,missense_variant,p.Glu62Gln,ENST00000361317,NM_198723.1;TCEA2,missense_variant,p.Glu89Gln,ENST00000343484,NM_003195.4;TCEA2,missense_variant,p.Glu62Gln,ENST00000440819,;TCEA2,missense_variant,p.Glu62Gln,ENST00000339217,;TCEA2,missense_variant,p.Glu62Gln,ENST00000458442,;TCEA2,missense_variant,p.Glu62Gln,ENST00000415602,;TCEA2,non_coding_transcript_exon_variant,,ENST00000465111,;TCEA2,non_coding_transcript_exon_variant,,ENST00000487164,;TCEA2,non_coding_transcript_exon_variant,,ENST00000470559,;TCEA2,upstream_gene_variant,,ENST00000461072,;TCEA2,upstream_gene_variant,,ENST00000465433,;TCEA2,upstream_gene_variant,,ENST00000475236,;TCEA2,downstream_gene_variant,,ENST00000476113,;TCEA2,upstream_gene_variant,,ENST00000477783,;TCEA2,upstream_gene_variant,,ENST00000495168,; C ENSG00000171703 ENST00000343484 Transcript missense_variant 434/1235 265/900 89/299 E/Q Gag/Cag 1 1 TCEA2 HGNC HGNC:11614 protein_coding YES CCDS13553.1 ENSP00000343515 Q15560 Q6IB64 UPI0000136AC0 NM_003195.4 deleterious(0.05) benign(0.077) 4/10 Gene3D:1.20.930.10,PIRSF_domain:PIRSF006704,hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF3,Superfamily_domains:SSF47676,TIGRFAM_domain:TIGR01385,mobidb-lite MODERATE 1 SNV 1 PASS GGA . . 64068070 TTC3 . GRCh38 chr21 37165843 37165843 + Missense_Mutation SNP C C T novel 7316-913 BS_GKRMQS5W C C c.3629C>T p.Ala1210Val p.A1210V ENST00000399017 33/46 97 58 39 27 27 0 TTC3,missense_variant,p.Ala1210Val,ENST00000399017,NM_003316.3;TTC3,missense_variant,p.Ala1210Val,ENST00000354749,;TTC3,missense_variant,p.Ala1210Val,ENST00000355666,NM_001001894.1,NM_001320703.1,NM_001320704.1;TTC3,downstream_gene_variant,,ENST00000411496,;TTC3,downstream_gene_variant,,ENST00000418766,;TTC3,downstream_gene_variant,,ENST00000438055,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,downstream_gene_variant,,ENST00000469939,;TTC3,downstream_gene_variant,,ENST00000485402,;TTC3,downstream_gene_variant,,ENST00000487711,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;TTC3,non_coding_transcript_exon_variant,,ENST00000472398,;,regulatory_region_variant,,ENSR00000142122,; T ENSG00000182670 ENST00000399017 Transcript missense_variant 6376/10363 3629/6078 1210/2025 A/V gCt/gTt 1 1 TTC3 HGNC HGNC:12393 protein_coding YES CCDS13651.1 ENSP00000381981 P53804 UPI00001B043E NM_003316.3 tolerated(0.09) benign(0.058) 33/46 Gene3D:1.20.58.60,hmmpanther:PTHR17550,hmmpanther:PTHR17550:SF4 MODERATE 1 SNV 1 PASS GCT . . 37165843 CLTCL1 . GRCh38 chr22 19226272 19226272 + Missense_Mutation SNP C C T rs781858346 7316-913 BS_GKRMQS5W C C c.1894G>A p.Asp632Asn p.D632N ENST00000427926 12/33 114 61 52 38 37 0 CLTCL1,missense_variant,p.Asp632Asn,ENST00000427926,NM_007098.3;CLTCL1,missense_variant,p.Asp632Asn,ENST00000621271,NM_001835.3;CLTCL1,missense_variant,p.Asp632Asn,ENST00000617103,;CLTCL1,missense_variant,p.Asp17Asn,ENST00000458188,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000615606,;CLTCL1,downstream_gene_variant,,ENST00000540896,; T ENSG00000070371 ENST00000427926 Transcript missense_variant 1967/5513 1894/4923 632/1640 D/N Gac/Aac rs781858346,COSM4865870,COSM1032060 1 -1 CLTCL1 HGNC HGNC:2093 protein_coding YES CCDS46662.2 ENSP00000441158 P53675 UPI0000127ABE NM_007098.3 tolerated(0.08) probably_damaging(1) 12/33 Gene3D:1.25.40.10,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,PROSITE_profiles:PS50236,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,SMART_domains:SM00299,Superfamily_domains:SSF48371 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS TCG . . 2.438e-05 8.936e-05 2.687e-05 19226272 MB . GRCh38 chr22 35610937 35610937 + Missense_Mutation SNP G G T novel 7316-913 BS_GKRMQS5W G G c.265C>A p.Pro89Thr p.P89T ENST00000397326 2/3 104 55 49 31 31 0 MB,missense_variant,p.Pro89Thr,ENST00000397326,NM_005368.2;MB,missense_variant,p.Pro89Thr,ENST00000359787,NM_203377.1;MB,missense_variant,p.Pro89Thr,ENST00000397328,NM_203378.1;MB,missense_variant,p.Pro34Thr,ENST00000401702,;MB,missense_variant,p.Pro89Thr,ENST00000443033,;MB,missense_variant,p.Pro89Thr,ENST00000406324,;MB,missense_variant,p.Pro89Thr,ENST00000451685,;MB,missense_variant,p.Pro34Thr,ENST00000442617,;MB,missense_variant,p.Pro89Thr,ENST00000447607,;MB,downstream_gene_variant,,ENST00000419229,; T ENSG00000198125 ENST00000397326 Transcript missense_variant 464/1197 265/465 89/154 P/T Ccc/Acc 1 -1 MB HGNC HGNC:6915 protein_coding YES CCDS13917.1 ENSP00000380489 P02144 A0A1K0FU49 UPI000016846B NM_005368.2 tolerated(0.08) probably_damaging(0.943) 2/3 Gene3D:1.10.490.10,PDB-ENSP_mappings:3rgk.A,Pfam_domain:PF00042,PROSITE_profiles:PS01033,hmmpanther:PTHR11442,hmmpanther:PTHR11442:SF5,Superfamily_domains:SSF46458,cd08926 MODERATE 1 SNV 1 PASS GGC . . 35610937 PPARA . GRCh38 chr22 46198432 46198432 + Missense_Mutation SNP G G T novel 7316-913 BS_GKRMQS5W G G c.49G>T p.Gly17Cys p.G17C ENST00000407236 3/8 85 51 33 24 24 0 PPARA,missense_variant,p.Gly17Cys,ENST00000407236,;PPARA,missense_variant,p.Gly17Cys,ENST00000262735,NM_005036.4,NM_001001928.2;PPARA,missense_variant,p.Gly17Cys,ENST00000402126,;PPARA,missense_variant,p.Gly17Cys,ENST00000420804,;PPARA,missense_variant,p.Gly17Cys,ENST00000415785,;PPARA,downstream_gene_variant,,ENST00000440343,;PPARA,downstream_gene_variant,,ENST00000481567,;PPARA,downstream_gene_variant,,ENST00000484619,;PPARA,non_coding_transcript_exon_variant,,ENST00000493286,; T ENSG00000186951 ENST00000407236 Transcript missense_variant 262/9995 49/1407 17/468 G/C Ggc/Tgc 1 1 PPARA HGNC HGNC:9232 protein_coding YES CCDS33669.1 ENSP00000385523 Q07869 F1D8S4 UPI000000D8E0 deleterious_low_confidence(0.03) benign(0.031) 3/8 Prints_domain:PR01289 MODERATE 1 SNV 1 PASS CGG . . 46198432 JADE3 . GRCh38 chrX 47058521 47058521 + Missense_Mutation SNP C C A novel 7316-913 BS_GKRMQS5W C C c.1916C>A p.Pro639His p.P639H ENST00000614628 11/11 93 52 41 23 23 0 JADE3,missense_variant,p.Pro639His,ENST00000614628,NM_014735.4;JADE3,missense_variant,p.Pro639His,ENST00000611250,NM_001077445.2; A ENSG00000102221 ENST00000614628 Transcript missense_variant 2214/4934 1916/2472 639/823 P/H cCt/cAt 1 1 JADE3 HGNC HGNC:22982 protein_coding YES CCDS14271.1 ENSP00000481850 Q92613 A0A024R1A2 UPI0000073DE6 NM_014735.4 deleterious_low_confidence(0.03) probably_damaging(0.998) 11/11 hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF27 MODERATE 1 SNV 1 PASS CCT . . 47058521 DIAPH2 . GRCh38 chrX 96937286 96937286 + Missense_Mutation SNP T T A novel 7316-913 BS_GKRMQS5W T T c.1143T>A p.Asp381Glu p.D381E ENST00000324765 11/27 91 56 35 32 32 0 DIAPH2,missense_variant,p.Asp381Glu,ENST00000324765,NM_006729.4;DIAPH2,missense_variant,p.Asp381Glu,ENST00000373061,;DIAPH2,missense_variant,p.Asp381Glu,ENST00000355827,;DIAPH2,missense_variant,p.Asp381Glu,ENST00000373049,NM_007309.3;DIAPH2,missense_variant,p.Asp388Glu,ENST00000373054,; A ENSG00000147202 ENST00000324765 Transcript missense_variant 1490/9333 1143/3306 381/1101 D/E gaT/gaA 1 1 DIAPH2 HGNC HGNC:2877 protein_coding YES CCDS14467.1 ENSP00000321348 O60879 UPI00001293C8 NM_006729.4 tolerated(0.28) benign(0.127) 11/27 Gene3D:1.10.287.510,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06367,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF174,SMART_domains:SM01139,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 1 PASS ATG . . 96937286 RBMXL3 . GRCh38 chrX 115191704 115191704 + Missense_Mutation SNP C C T rs1050701040 7316-913 BS_GKRMQS5W C C c.2263C>T p.Arg755Cys p.R755C ENST00000424776 1/1 122 103 14 36 35 0 RBMXL3,missense_variant,p.Arg755Cys,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343012,; T ENSG00000175718 ENST00000424776 Transcript missense_variant 2278/3442 2263/3204 755/1067 R/C Cgc/Tgc rs1050701040,COSM6360967 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 deleterious_low_confidence(0) possibly_damaging(0.689) 1/1 mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 0,1 MODERATE SNV 0,1 PASS CCG . . 115191704 MAGEA11 . GRCh38 chrX 149715760 149715760 + Missense_Mutation SNP G G A novel 7316-913 BS_GKRMQS5W G G c.274G>A p.Gly92Ser p.G92S ENST00000355220 5/5 125 76 47 20 20 0 MAGEA11,missense_variant,p.Gly92Ser,ENST00000355220,NM_005366.4;MAGEA11,missense_variant,p.Gly63Ser,ENST00000333104,NM_001011544.1;MAGEA11,missense_variant,p.Gly63Ser,ENST00000412632,;MAGEA11,non_coding_transcript_exon_variant,,ENST00000518694,; A ENSG00000185247 ENST00000355220 Transcript missense_variant 376/1864 274/1290 92/429 G/S Ggc/Agc 1 1 MAGEA11 HGNC HGNC:6798 protein_coding YES CCDS48180.1 ENSP00000347358 P43364 UPI0000211BB0 NM_005366.4 tolerated(0.41) benign(0.031) 5/5 hmmpanther:PTHR11736:SF71,hmmpanther:PTHR11736 MODERATE 1 SNV 1 PASS GGG . . 149715760 MAGEA12 . GRCh38 chrX 152736922 152736922 + Missense_Mutation SNP A A T novel 7316-913 BS_GKRMQS5W A A c.761A>T p.Asn254Ile p.N254I ENST00000393869 3/3 86 77 9 45 43 0 MAGEA12,missense_variant,p.Asn254Ile,ENST00000393869,NM_001166387.3;MAGEA12,missense_variant,p.Asn254Ile,ENST00000357916,NM_005367.6;MAGEA12,missense_variant,p.Asn254Ile,ENST00000393900,NM_001166386.3;CSAG1,upstream_gene_variant,,ENST00000370287,NM_153478.2;CSAG1,upstream_gene_variant,,ENST00000370291,;CSAG1,upstream_gene_variant,,ENST00000452779,NM_001102576.2;CSAG4,intron_variant,,ENST00000361201,;CSAG1,upstream_gene_variant,,ENST00000361211,;CSAG4,upstream_gene_variant,,ENST00000583763,; T ENSG00000213401 ENST00000393869 Transcript missense_variant 1023/1761 761/945 254/314 N/I aAc/aTc 1 1 MAGEA12 HGNC HGNC:6799 protein_coding YES CCDS76048.1 ENSP00000377447 P43365 UPI0000000C51 NM_001166387.3 deleterious(0.01) possibly_damaging(0.832) 3/3 Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF74,SMART_domains:SM01373 MODERATE SNV 2 PASS AAC . . 152736922 PRAMEF18 . GRCh38 chr1 13225047 13225047 + Missense_Mutation SNP C C A rs878862357 7316-2151 BS_59H6VFJX C C c.674G>T p.Ser225Ile p.S225I ENST00000624297 2/3 141 95 45 69 60 8 PRAMEF18,missense_variant,p.Ser225Ile,ENST00000624297,NM_001099850.2; A ENSG00000279804 ENST00000624297 Transcript missense_variant 674/2067 674/1440 225/479 S/I aGc/aTc rs878862357 1 -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES ENSP00000485473 Q5VWM3 A0A096LP99 UPI0004423C16 NM_001099850.2 deleterious(0.01) benign(0.102) 2/3 hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF79,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047 MODERATE 1 SNV 1 PASS GCT . . 13225047 SLC6A9 . GRCh38 chr1 44031307 44031307 + Splice_Region SNP A A C novel 7316-2151 BS_59H6VFJX A A c.-87T>G ENST00000372310 1/14 66 52 10 32 31 0 SLC6A9,splice_region_variant,,ENST00000372310,NM_001024845.2,NM_001328629.1;SLC6A9,splice_region_variant,,ENST00000372306,;SLC6A9,splice_region_variant,,ENST00000475075,;SLC6A9,splice_region_variant,,ENST00000466926,;AL139220.2,intron_variant,,ENST00000623351,;AL139220.2,intron_variant,,ENST00000624869,;AL139220.2,upstream_gene_variant,,ENST00000607988,;SLC6A9,splice_region_variant,,ENST00000492434,;SLC6A9,splice_region_variant,,ENST00000489764,;,regulatory_region_variant,,ENSR00000005689,; C ENSG00000196517 ENST00000372310 Transcript splice_region_variant,5_prime_UTR_variant 80/3130 1 -1 SLC6A9 HGNC HGNC:11056 protein_coding CCDS30695.1 ENSP00000361384 P48067 UPI0000204F05 NM_001024845.2,NM_001328629.1 1/14 LOW SNV 5 1 PASS CAT . . 44031307 KLF18 . GRCh38 chr1 44139048 44139048 + Missense_Mutation SNP T T C rs370113563 7316-2151 BS_59H6VFJX T T c.2584A>G p.Asn862Asp p.N862D ENST00000634670 1/2 86 66 11 34 34 0 KLF18,missense_variant,p.Asn862Asp,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; C ENSG00000283039 ENST00000634670 Transcript missense_variant 2584/3159 2584/3159 862/1052 N/D Aac/Gac rs370113563 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 deleterious(0.02) benign(0) 1/2 Gene3D:2.150.10.10 0.4183 0.4561 0.4092 0.4454 0.3449 0.4213 MODERATE SNV 5 PASS TTC . . 44139048 KLF18 . GRCh38 chr1 44139987 44139987 + Missense_Mutation SNP G G T novel 7316-2151 BS_59H6VFJX G G c.1645C>A p.Pro549Thr p.P549T ENST00000634670 1/2 36 26 6 30 27 0 KLF18,missense_variant,p.Pro549Thr,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; T ENSG00000283039 ENST00000634670 Transcript missense_variant 1645/3159 1645/3159 549/1052 P/T Ccc/Acc 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.07) benign(0) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GGG . . 44139987 ALX3 . GRCh38 chr1 110070522 110070522 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.91A>C p.Thr31Pro p.T31P ENST00000369792 1/4 49 34 12 28 27 0 ALX3,missense_variant,p.Thr31Pro,ENST00000369792,NM_006492.2;STRIP1,intron_variant,,ENST00000473429,; G ENSG00000156150 ENST00000369792 Transcript missense_variant 179/1859 91/1032 31/343 T/P Acc/Ccc 1 -1 ALX3 HGNC HGNC:449 protein_coding YES CCDS819.1 ENSP00000358807 O95076 UPI000013DE5F NM_006492.2 deleterious_low_confidence(0.03) benign(0) 1/4 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTT . . 110070522 ZNF697 . GRCh38 chr1 119623115 119623115 + Missense_Mutation SNP T T G rs1299632821 7316-2151 BS_59H6VFJX T T c.1228A>C p.Met410Leu p.M410L ENST00000421812 3/3 76 63 11 43 40 1 ZNF697,missense_variant,p.Met410Leu,ENST00000421812,NM_001080470.1; G ENSG00000143067 ENST00000421812 Transcript missense_variant 1348/5041 1228/1638 410/545 M/L Atg/Ctg rs1299632821 1 -1 ZNF697 HGNC HGNC:32034 protein_coding YES CCDS44202.1 ENSP00000396857 Q5TEC3 UPI0000DD78D7 NM_001080470.1 tolerated(0.17) benign(0.294) 3/3 Gene3D:2.20.28.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR44153,hmmpanther:PTHR44153:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS ATG . . 119623115 TCHH . GRCh38 chr1 152108268 152108268 + Missense_Mutation SNP G G T rs530417912 7316-2151 BS_59H6VFJX G G c.4949C>A p.Pro1650Gln p.P1650Q ENST00000614923 3/3 50 39 9 46 45 1 TCHH,missense_variant,p.Pro1650Gln,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Pro1650Gln,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 5044/6995 4949/5832 1650/1943 P/Q cCg/cAg rs530417912,COSM4221222 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.54) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34855,hmmpanther:PTHR34855 0.0006 0.002 0.001 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGG . . 1.355e-05 0.0001116 152108268 FLG2 . GRCh38 chr1 152351463 152351463 + Missense_Mutation SNP G G T rs756165212 7316-2151 BS_59H6VFJX G G c.6323C>A p.Ser2108Tyr p.S2108Y ENST00000388718 3/3 67 51 15 33 30 1 FLG2,missense_variant,p.Ser2108Tyr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 6396/9124 6323/7176 2108/2391 S/Y tCc/tAc rs756165212,COSM6233728 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.09) benign(0.041) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GGA . . 1.321e-05 3.59e-05 1.872e-05 152351463 FLG2 . GRCh38 chr1 152351638 152351638 + Missense_Mutation SNP C C A novel 7316-2151 BS_59H6VFJX C C c.6148G>T p.Ala2050Ser p.A2050S ENST00000388718 3/3 74 53 9 40 38 0 FLG2,missense_variant,p.Ala2050Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 6221/9124 6148/7176 2050/2391 A/S Gct/Tct 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.67) benign(0.045) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487 MODERATE SNV 5 1 PASS GCG . . 152351638 PYGO2 . GRCh38 chr1 154961488 154961488 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.89A>C p.Lys30Thr p.K30T ENST00000368457 1/3 77 65 12 42 40 0 PYGO2,missense_variant,p.Lys30Thr,ENST00000368457,NM_138300.3;PYGO2,intron_variant,,ENST00000368456,;SHC1,downstream_gene_variant,,ENST00000368445,NM_183001.4;SHC1,downstream_gene_variant,,ENST00000368449,;SHC1,downstream_gene_variant,,ENST00000368450,NM_001202859.1,NM_001130041.1;SHC1,downstream_gene_variant,,ENST00000368453,NM_003029.4;SHC1,downstream_gene_variant,,ENST00000414115,;SHC1,downstream_gene_variant,,ENST00000444179,;SHC1,downstream_gene_variant,,ENST00000444664,;SHC1,downstream_gene_variant,,ENST00000448116,NM_001130040.1;AL451085.2,upstream_gene_variant,,ENST00000605085,NM_001321726.1;PYGO2,intron_variant,,ENST00000483463,;SHC1,downstream_gene_variant,,ENST00000490667,;,regulatory_region_variant,,ENSR00000014005,; G ENSG00000163348 ENST00000368457 Transcript missense_variant 261/3146 89/1221 30/406 K/T aAg/aCg 1 -1 PYGO2 HGNC HGNC:30257 protein_coding YES CCDS1075.1 ENSP00000357442 Q9BRQ0 Q5T170 UPI00000015CD NM_138300.3 tolerated_low_confidence(0.1) benign(0.18) 1/3 hmmpanther:PTHR23194,hmmpanther:PTHR23194:SF7,mobidb-lite MODERATE 1 SNV 1 PASS CTT . . 154961488 F5 . GRCh38 chr1 169541161 169541161 + Missense_Mutation SNP G G C rs879158814 7316-2151 BS_59H6VFJX G G c.3929C>G p.Thr1310Arg p.T1310R ENST00000367797 13/25 44 30 10 29 28 0 F5,missense_variant,p.Thr1315Arg,ENST00000367796,;F5,missense_variant,p.Thr1310Arg,ENST00000367797,NM_000130.4; C ENSG00000198734 ENST00000367797 Transcript missense_variant 4131/7024 3929/6675 1310/2224 T/R aCa/aGa rs879158814 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(0.09) possibly_damaging(0.462) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199 MODERATE 1 SNV 1 1 PASS TGT . . 169541161 F5 . GRCh38 chr1 169541167 169541167 + Missense_Mutation SNP C C A rs879074638 7316-2151 BS_59H6VFJX C C c.3923G>T p.Ser1308Ile p.S1308I ENST00000367797 13/25 44 33 9 32 31 0 F5,missense_variant,p.Ser1313Ile,ENST00000367796,;F5,missense_variant,p.Ser1308Ile,ENST00000367797,NM_000130.4; A ENSG00000198734 ENST00000367797 Transcript missense_variant 4125/7024 3923/6675 1308/2224 S/I aGt/aTt rs879074638,COSM5567344 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(0.08) benign(0.271) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACT . . 169541167 TTN . GRCh38 chr2 178652735 178652735 + Splice_Region SNP T T C rs552745605 7316-2151 BS_59H6VFJX T T c.38961A>G p.Val12987= p.V12987= ENST00000589042 201/363 49 39 5 37 36 0 TTN,splice_region_variant,p.Val12987=,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; C ENSG00000155657 ENST00000589042 Transcript splice_region_variant,synonymous_variant 39186/109224 38961/107976 12987/35991 V gtA/gtG rs552745605 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg 0.0008 0.0014 0.002 0.001 LOW 1 SNV 5 1 PASS GTA . . 1.648e-05 2.999e-05 1.826e-05 3.26e-05 178652735 NBEAL1 . GRCh38 chr2 203014981 203014981 + Splice_Region SNP A A C novel 7316-2151 BS_59H6VFJX A A c.-231A>C ENST00000449802 1/55 65 53 9 34 31 0 NBEAL1,splice_region_variant,,ENST00000449802,NM_001114132.1;NBEAL1,splice_region_variant,,ENST00000478884,;WDR12,upstream_gene_variant,,ENST00000477723,;NBEAL1,upstream_gene_variant,,ENST00000492870,;NBEAL1,splice_region_variant,,ENST00000497505,;NBEAL1,upstream_gene_variant,,ENST00000460416,;,regulatory_region_variant,,ENSR00000128994,; C ENSG00000144426 ENST00000449802 Transcript splice_region_variant,5_prime_UTR_variant 103/10938 1 1 NBEAL1 HGNC HGNC:20681 protein_coding YES CCDS46495.1 ENSP00000399903 Q6ZS30 UPI000194EC27 NM_001114132.1 1/55 LOW 1 SNV 5 PASS AAT . . 203014981 GAL3ST2 . GRCh38 chr2 241803771 241803771 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.802A>C p.Thr268Pro p.T268P ENST00000192314 4/4 59 47 10 25 24 0 GAL3ST2,missense_variant,p.Thr268Pro,ENST00000192314,NM_022134.2;AC131097.3,downstream_gene_variant,,ENST00000413820,;AC131097.1,upstream_gene_variant,,ENST00000437438,;,regulatory_region_variant,,ENSR00000133335,; C ENSG00000154252 ENST00000192314 Transcript missense_variant 933/1370 802/1197 268/398 T/P Acc/Ccc 1 1 GAL3ST2 HGNC HGNC:24869 protein_coding YES CCDS33427.1 ENSP00000192314 Q9H3Q3 UPI000049DF44 NM_022134.2 tolerated(0.09) possibly_damaging(0.828) 4/4 hmmpanther:PTHR14647:SF55,hmmpanther:PTHR14647,Gene3D:3.40.50.300,Pfam_domain:PF06990 MODERATE 1 SNV 1 PASS GAC . . 241803771 PLXNA1 . GRCh38 chr3 127012152 127012152 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.2307T>G p.Asn769Lys p.N769K ENST00000393409 9/31 77 64 13 31 31 0 PLXNA1,missense_variant,p.Asn769Lys,ENST00000393409,NM_032242.3; G ENSG00000114554 ENST00000393409 Transcript missense_variant 2307/9066 2307/5691 769/1896 N/K aaT/aaG 1 1 PLXNA1 HGNC HGNC:9099 protein_coding YES CCDS33847.2 ENSP00000377061 Q9UIW2 UPI00001A7983 NM_032242.3 tolerated(0.24) benign(0.011) 9/31 Low_complexity_(Seg):seg,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Gene3D:2.60.40.10 MODERATE 1 SNV 1 PASS ATT . . 127012152 MUC4 . GRCh38 chr3 195779246 195779246 + Missense_Mutation SNP G G T rs200320052 7316-2151 BS_59H6VFJX G G c.12334C>A p.Pro4112Thr p.P4112T ENST00000463781 2/25 34 21 7 21 20 0 MUC4,missense_variant,p.Pro4112Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro4112Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro4112Thr,ENST00000478156,;MUC4,missense_variant,p.Pro4112Thr,ENST00000466475,;MUC4,missense_variant,p.Pro4112Thr,ENST00000477756,;MUC4,missense_variant,p.Pro4112Thr,ENST00000477086,;MUC4,missense_variant,p.Pro4112Thr,ENST00000480843,;MUC4,missense_variant,p.Pro4112Thr,ENST00000462323,;MUC4,missense_variant,p.Pro4112Thr,ENST00000470451,;MUC4,missense_variant,p.Pro4112Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 12794/17110 12334/16239 4112/5412 P/T Cct/Act rs200320052,COSM3847087 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.01) possibly_damaging(0.456) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGC . . 0.03005 0.00348 0.02262 0.08062 0.0279 0.02458 0.02838 0.03868 0.03836 195779246 MUC4 . GRCh38 chr3 195781964 195781964 + Missense_Mutation SNP C C A 7316-2151 BS_59H6VFJX C C c.9616G>T p.Ala3206Ser p.A3206S ENST00000463781 2/25 30 17 5 30 28 0 MUC4,missense_variant,p.Ala3206Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3206Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3206Ser,ENST00000478156,;MUC4,missense_variant,p.Ala3206Ser,ENST00000466475,;MUC4,missense_variant,p.Ala3206Ser,ENST00000477756,;MUC4,missense_variant,p.Ala3206Ser,ENST00000477086,;MUC4,missense_variant,p.Ala3206Ser,ENST00000480843,;MUC4,missense_variant,p.Ala3206Ser,ENST00000462323,;MUC4,missense_variant,p.Ala3206Ser,ENST00000470451,;MUC4,missense_variant,p.Ala3206Ser,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 10076/17110 9616/16239 3206/5412 A/S Gct/Tct COSM4601336 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.13) benign(0.374) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS GCG . . 195781964 MUC4 . GRCh38 chr3 195782674 195782674 + Missense_Mutation SNP G G A rs200425615 7316-2151 BS_59H6VFJX G G c.8906C>T p.Ala2969Val p.A2969V ENST00000463781 2/25 34 21 9 41 36 1 MUC4,missense_variant,p.Ala2969Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala2969Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala2969Val,ENST00000478156,;MUC4,missense_variant,p.Ala2969Val,ENST00000466475,;MUC4,missense_variant,p.Ala2969Val,ENST00000477756,;MUC4,missense_variant,p.Ala2969Val,ENST00000477086,;MUC4,missense_variant,p.Ala2969Val,ENST00000480843,;MUC4,missense_variant,p.Ala2969Val,ENST00000462323,;MUC4,missense_variant,p.Ala2969Val,ENST00000470451,;MUC4,missense_variant,p.Ala2969Val,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 9366/17110 8906/16239 2969/5412 A/V gCa/gTa rs200425615,COSM4322307 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.43) possibly_damaging(0.494) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TGC . . 0.0001347 0.00207 0.000178 1.847e-05 9.137e-05 195782674 MUC4 . GRCh38 chr3 195786596 195786596 + Missense_Mutation SNP C C A 7316-2151 BS_59H6VFJX C C c.4984G>T p.Ala1662Ser p.A1662S ENST00000463781 2/25 101 82 8 61 58 0 MUC4,missense_variant,p.Ala1662Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala1662Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala1662Ser,ENST00000478156,;MUC4,missense_variant,p.Ala1662Ser,ENST00000466475,;MUC4,missense_variant,p.Ala1662Ser,ENST00000477756,;MUC4,missense_variant,p.Ala1662Ser,ENST00000477086,;MUC4,missense_variant,p.Ala1662Ser,ENST00000480843,;MUC4,missense_variant,p.Ala1662Ser,ENST00000462323,;MUC4,missense_variant,p.Ala1662Ser,ENST00000470451,;MUC4,missense_variant,p.Ala1662Ser,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 5444/17110 4984/16239 1662/5412 A/S Gcc/Tcc COSM2946343 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.91) benign(0.374) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS GCG . . 195786596 MUC4 . GRCh38 chr3 195788396 195788396 + Missense_Mutation SNP T T A novel 7316-2151 BS_59H6VFJX T T c.3184A>T p.Thr1062Ser p.T1062S ENST00000463781 2/25 52 40 6 46 42 0 MUC4,missense_variant,p.Thr1062Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr1062Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr1062Ser,ENST00000478156,;MUC4,missense_variant,p.Thr1062Ser,ENST00000466475,;MUC4,missense_variant,p.Thr1062Ser,ENST00000477756,;MUC4,missense_variant,p.Thr1062Ser,ENST00000477086,;MUC4,missense_variant,p.Thr1062Ser,ENST00000480843,;MUC4,missense_variant,p.Thr1062Ser,ENST00000462323,;MUC4,missense_variant,p.Thr1062Ser,ENST00000470451,;MUC4,missense_variant,p.Thr1062Ser,ENST00000479406,;,regulatory_region_variant,,ENSR00000308220,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 3644/17110 3184/16239 1062/5412 T/S Act/Tct 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.81) benign(0.096) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS GTG . . 195788396 SLC10A4 . GRCh38 chr4 48483814 48483814 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.253T>G p.Phe85Val p.F85V ENST00000273861 1/3 78 66 12 36 36 0 SLC10A4,missense_variant,p.Phe85Val,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168127,; G ENSG00000145248 ENST00000273861 Transcript missense_variant 472/1790 253/1314 85/437 F/V Ttc/Gtc 1 1 SLC10A4 HGNC HGNC:22980 protein_coding YES CCDS3482.1 ENSP00000273861 Q96EP9 UPI000006E8DB NM_152679.3 deleterious(0.02) benign(0) 1/3 hmmpanther:PTHR10361:SF41,hmmpanther:PTHR10361 MODERATE 1 SNV 1 PASS GTT . . 48483814 PAPSS1 . GRCh38 chr4 107720178 107720178 + Translation_Start_Site SNP A A C novel 7316-2151 BS_59H6VFJX A A c.2T>G p.Met1? p.M1? ENST00000265174 1/12 72 62 7 39 38 0 PAPSS1,start_lost,p.Met1?,ENST00000265174,NM_005443.4;PAPSS1,non_coding_transcript_exon_variant,,ENST00000511304,;PAPSS1,non_coding_transcript_exon_variant,,ENST00000514489,;PAPSS1,non_coding_transcript_exon_variant,,ENST00000504987,;PAPSS1,upstream_gene_variant,,ENST00000502431,;PAPSS1,upstream_gene_variant,,ENST00000512641,;,regulatory_region_variant,,ENSR00000171648,; C ENSG00000138801 ENST00000265174 Transcript start_lost 275/2731 2/1875 1/624 M/R aTg/aGg 1 -1 PAPSS1 HGNC HGNC:8603 protein_coding YES CCDS3676.1 ENSP00000265174 O43252 UPI0000132102 NM_005443.4 deleterious_low_confidence(0) benign(0.227) 1/12 PDB-ENSP_mappings:1x6v.A,PDB-ENSP_mappings:1x6v.B,PDB-ENSP_mappings:1xjq.A,PDB-ENSP_mappings:1xjq.B,PDB-ENSP_mappings:1xnj.A,PDB-ENSP_mappings:1xnj.B HIGH 1 SNV 1 PASS CAT . . 107720178 AC108142.1 . GRCh38 chr4 182144978 182144978 + Splice_Region SNP A A C novel 7316-2151 BS_59H6VFJX A A n.120+7A>C ENST00000505389 44 33 10 27 26 0 TENM3,intron_variant,,ENST00000512480,;AC108142.1,splice_region_variant,,ENST00000505389,;AC098864.1,non_coding_transcript_exon_variant,,ENST00000508968,;AC098864.1,upstream_gene_variant,,ENST00000315302,;AC098864.1,upstream_gene_variant,,ENST00000505873,;AC098864.1,upstream_gene_variant,,ENST00000509012,;AC098864.1,upstream_gene_variant,,ENST00000511052,;AC098864.1,upstream_gene_variant,,ENST00000513752,;TENM3,intron_variant,,ENST00000513201,;,regulatory_region_variant,,ENSR00000176671,; C ENSG00000248266 ENST00000505389 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 AC108142.1 Clone_based_ensembl_gene sense_intronic YES 1/1 LOW SNV 3 PASS AAC . . 182144978 MARCH11 . GRCh38 chr5 16179370 16179370 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.206T>G p.Leu69Arg p.L69R ENST00000332432 1/4 74 58 12 23 20 0 MARCH11,missense_variant,p.Leu69Arg,ENST00000332432,NM_001102562.1;MARCH11,upstream_gene_variant,,ENST00000507111,;AC092335.1,upstream_gene_variant,,ENST00000509037,;MARCH11,intron_variant,,ENST00000505509,; C ENSG00000183654 ENST00000332432 Transcript missense_variant 406/1741 206/1209 69/402 L/R cTa/cGa 1 -1 MARCH11 HGNC HGNC:33609 protein_coding YES CCDS47192.1 ENSP00000333181 A6NNE9 UPI00015B3D4A NM_001102562.1 tolerated_low_confidence(0.25) benign(0) 1/4 hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF67,mobidb-lite MODERATE SNV 5 PASS TAG . . 16179370 PRDM9 . GRCh38 chr5 23526794 23526794 + Missense_Mutation SNP T T G 7316-2151 BS_59H6VFJX T T c.1706T>G p.Ile569Ser p.I569S ENST00000296682 11/11 81 48 6 34 30 0 PRDM9,missense_variant,p.Ile569Ser,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,; G ENSG00000164256 ENST00000296682 Transcript missense_variant 1888/3691 1706/2685 569/894 I/S aTt/aGt COSM6233137 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(0.8) benign(0.006) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.40.10,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS ATT . . 23526794 SOWAHA . GRCh38 chr5 132814598 132814598 + Missense_Mutation SNP A A C rs950458785 7316-2151 BS_59H6VFJX A A c.977A>C p.Gln326Pro p.Q326P ENST00000378693 1/1 123 108 12 42 42 0 SOWAHA,missense_variant,p.Gln326Pro,ENST00000378693,NM_175873.5;AC004775.1,downstream_gene_variant,,ENST00000607389,; C ENSG00000198944 ENST00000378693 Transcript missense_variant 1012/3211 977/1650 326/549 Q/P cAg/cCg rs950458785 1 1 SOWAHA HGNC HGNC:27033 protein_coding YES CCDS43361.1 ENSP00000367965 Q2M3V2 UPI000156802F NM_175873.5 deleterious(0) probably_damaging(0.973) 1/1 Gene3D:1.25.40.20,hmmpanther:PTHR14491,hmmpanther:PTHR14491:SF2 MODERATE 1 SNV PASS CAG . . 132814598 MDC1 . GRCh38 chr6 30704352 30704352 + Missense_Mutation SNP G G T rs1213201757 7316-2151 BS_59H6VFJX G G c.4831C>A p.Pro1611Thr p.P1611T ENST00000376406 10/15 62 43 14 34 32 1 MDC1,missense_variant,p.Pro1611Thr,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 5479/7576 4831/6270 1611/2089 P/T Cca/Aca rs1213201757 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 deleterious(0.03) possibly_damaging(0.784) 10/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GGC . . 30704352 C6orf141 . GRCh38 chr6 49550935 49550935 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.143A>C p.Asn48Thr p.N48T ENST00000529246 1/1 73 59 11 35 33 0 C6orf141,missense_variant,p.Asn48Thr,ENST00000529246,NM_001145652.1;C6orf141,upstream_gene_variant,,ENST00000424426,;C6orf141,missense_variant,p.Asn48Thr,ENST00000371194,;C6orf141,missense_variant,p.Asn48Thr,ENST00000414696,;C6orf141,upstream_gene_variant,,ENST00000415078,;C6orf141,upstream_gene_variant,,ENST00000526429,;C6orf141,upstream_gene_variant,,ENST00000530382,;,regulatory_region_variant,,ENSR00000197764,; C ENSG00000197261 ENST00000529246 Transcript missense_variant 290/1450 143/735 48/244 N/T aAt/aCt 1 1 C6orf141 HGNC HGNC:21351 protein_coding YES CCDS55018.1 ENSP00000434602 Q5SZD1 UPI000013E9DC NM_001145652.1 tolerated(0.17) benign(0.038) 1/1 mobidb-lite,hmmpanther:PTHR36880 MODERATE 1 SNV PASS AAT . . 49550935 ZC3H12D . GRCh38 chr6 149450931 149450931 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.1336T>G p.Phe446Val p.F446V ENST00000409806 6/6 81 70 9 44 44 0 ZC3H12D,missense_variant,p.Phe446Val,ENST00000409806,NM_207360.2;ZC3H12D,downstream_gene_variant,,ENST00000458251,;ZC3H12D,upstream_gene_variant,,ENST00000498662,;,regulatory_region_variant,,ENSR00000205029,; C ENSG00000178199 ENST00000409806 Transcript missense_variant 1655/5791 1336/1584 446/527 F/V Ttc/Gtc 1 -1 ZC3H12D HGNC HGNC:21175 protein_coding YES CCDS47500.2 ENSP00000386616 A2A288 UPI00002377F7 NM_207360.2 deleterious(0.04) benign(0.026) 6/6 mobidb-lite,hmmpanther:PTHR12876:SF11,hmmpanther:PTHR12876 MODERATE 1 SNV 1 PASS AAG . . 149450931 WIPF3 . GRCh38 chr7 29884491 29884491 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.997T>G p.Phe333Val p.F333V ENST00000242140 5/9 75 52 12 21 21 0 WIPF3,missense_variant,p.Phe333Val,ENST00000242140,NM_001080529.2;WIPF3,missense_variant,p.Phe333Val,ENST00000409290,;WIPF3,missense_variant,p.Phe333Val,ENST00000409123,;,regulatory_region_variant,,ENSR00000210284,; G ENSG00000122574 ENST00000242140 Transcript missense_variant 1179/4184 997/1452 333/483 F/V Ttc/Gtc 1 1 WIPF3 HGNC HGNC:22004 protein_coding YES CCDS56472.1 ENSP00000242140 A6NGB9 UPI00006C0B79 NM_001080529.2 tolerated_low_confidence(0.09) benign(0) 5/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF31 MODERATE 1 SNV 5 PASS CTT . . 29884491 AEBP1 . GRCh38 chr7 44104667 44104667 + Translation_Start_Site SNP T T G novel 7316-2151 BS_59H6VFJX T T c.2T>G p.Met1? p.M1? ENST00000223357 1/21 70 55 11 39 39 0 AEBP1,start_lost,p.Met1?,ENST00000223357,NM_001129.4;AEBP1,upstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000453052,;,regulatory_region_variant,,ENSR00000211784,; G ENSG00000106624 ENST00000223357 Transcript start_lost 307/4081 2/3477 1/1158 M/R aTg/aGg 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 deleterious_low_confidence(0) benign(0.284) 1/21 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 44104667 ZNF679 . GRCh38 chr7 64266355 64266355 + Missense_Mutation SNP G G A rs867373995 7316-2151 BS_59H6VFJX G G c.722G>A p.Arg241Lys p.R241K ENST00000421025 5/5 53 46 6 50 49 0 ZNF679,missense_variant,p.Arg241Lys,ENST00000421025,NM_153363.2;ZNF679,missense_variant,p.Arg241Lys,ENST00000255746,; A ENSG00000197123 ENST00000421025 Transcript missense_variant 991/1567 722/1236 241/411 R/K aGa/aAa rs867373995,COSM3950696 1 1 ZNF679 HGNC HGNC:28650 protein_coding YES CCDS47592.1 ENSP00000416809 Q8IYX0 UPI000045756A NM_153363.2 tolerated(1) benign(0.315) 5/5 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS AGA . . 64266355 ZNF107 . GRCh38 chr7 64707717 64707717 + Missense_Mutation SNP G G T 7316-2151 BS_59H6VFJX G G c.1620G>T p.Glu540Asp p.E540D ENST00000620827 4/4 56 44 7 35 35 0 ZNF107,missense_variant,p.Glu471Asp,ENST00000395391,;ZNF107,missense_variant,p.Glu471Asp,ENST00000423627,NM_016220.4;ZNF107,missense_variant,p.Glu540Asp,ENST00000620827,NM_001282359.1;ZNF107,missense_variant,p.Glu508Asp,ENST00000613690,NM_001282360.1;ZNF107,missense_variant,p.Glu471Asp,ENST00000344930,NM_001013746.2;ZNF107,downstream_gene_variant,,ENST00000360117,; T ENSG00000196247 ENST00000620827 Transcript missense_variant 1820/5685 1620/2559 540/852 E/D gaG/gaT COSM6445198 1 1 ZNF107 HGNC HGNC:12887 protein_coding YES CCDS75605.1 ENSP00000483720 A0A0B4J2G0 UPI0000049C52 NM_001282359.1 tolerated(0.21) probably_damaging(0.979) 4/4 Gene3D:2.30.30.380,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS AGG . . 64707717 SSC4D . GRCh38 chr7 76393668 76393668 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.1070T>G p.Val357Gly p.V357G ENST00000275560 9/11 92 83 6 41 39 0 SSC4D,missense_variant,p.Val357Gly,ENST00000275560,NM_080744.1;ZP3,upstream_gene_variant,,ENST00000336517,NM_007155.5;SSC4D,upstream_gene_variant,,ENST00000492979,;,regulatory_region_variant,,ENSR00000213917,; C ENSG00000146700 ENST00000275560 Transcript missense_variant 1418/2801 1070/1728 357/575 V/G gTg/gGg 1 -1 SSC4D HGNC HGNC:14461 protein_coding YES CCDS5585.1 ENSP00000275560 Q8WTU2 UPI000006D197 NM_080744.1 tolerated(0.05) benign(0.034) 9/11 Gene3D:1.20.5.950,Pfam_domain:PF00530,PROSITE_patterns:PS00420,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF309,SMART_domains:SM00202,Superfamily_domains:SSF56487 MODERATE 1 SNV 1 PASS CAC . . 76393668 TSC22D4 . GRCh38 chr7 100477938 100477938 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.101A>C p.Gln34Pro p.Q34P ENST00000300181 2/5 59 47 12 22 20 0 TSC22D4,missense_variant,p.Gln34Pro,ENST00000300181,NM_030935.4,NM_001303043.1;TSC22D4,intron_variant,,ENST00000393991,;TSC22D4,upstream_gene_variant,,ENST00000496728,;TSC22D4,non_coding_transcript_exon_variant,,ENST00000493217,;,regulatory_region_variant,,ENSR00000215799,; G ENSG00000166925 ENST00000300181 Transcript missense_variant 856/2383 101/1188 34/395 Q/P cAg/cCg 1 -1 TSC22D4 HGNC HGNC:21696 protein_coding YES CCDS5695.1 ENSP00000300181 Q9Y3Q8 UPI0000001C0B NM_030935.4,NM_001303043.1 tolerated_low_confidence(1) benign(0) 2/5 hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF22,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTG . . 100477938 ZAN . GRCh38 chr7 100752473 100752473 + Missense_Mutation SNP C C T rs199814972 7316-2151 BS_59H6VFJX C C c.2368C>T p.Pro790Ser p.P790S ENST00000613979 14/48 41 28 5 28 25 0 ZAN,missense_variant,p.Pro790Ser,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Pro790Ser,ENST00000618565,;ZAN,missense_variant,p.Pro790Ser,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Pro790Ser,ENST00000546292,;ZAN,missense_variant,p.Pro790Ser,ENST00000542585,;ZAN,missense_variant,p.Pro790Ser,ENST00000538115,;ZAN,missense_variant,p.Pro790Ser,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,; T ENSG00000146839 ENST00000613979 Transcript missense_variant 2533/8669 2368/8439 790/2812 P/S Ccc/Tcc rs199814972,COSM3630938 1 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 A0A087WU49 UPI000441C79E NM_003386.2 tolerated(0.1) benign(0.268) 14/48 Low_complexity_(Seg):seg,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 100752473 MUC17 . GRCh38 chr7 101036352 101036352 + Missense_Mutation SNP C C A novel 7316-2151 BS_59H6VFJX C C c.4936C>A p.Pro1646Thr p.P1646T ENST00000306151 3/13 66 50 6 32 30 0 MUC17,missense_variant,p.Pro1646Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro1646Thr,ENST00000379439,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 5000/14247 4936/13482 1646/4493 P/T Cct/Act 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.55) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS TCC . . 101036352 MUC17 . GRCh38 chr7 101040524 101040524 + Missense_Mutation SNP A A G rs746877522 7316-2151 BS_59H6VFJX A A c.9108A>G p.Ile3036Met p.I3036M ENST00000306151 3/13 73 62 6 30 29 0 MUC17,missense_variant,p.Ile3036Met,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile3036Met,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 9172/14247 9108/13482 3036/4493 I/M atA/atG rs746877522,COSM6717648,COSM3784029 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.177) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TAC . . 1.279e-05 6.845e-05 9.178e-06 3.532e-05 101040524 VGF . GRCh38 chr7 101164018 101164018 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.826T>G p.Phe276Val p.F276V ENST00000249330 2/2 80 68 11 27 26 0 VGF,missense_variant,p.Phe276Val,ENST00000249330,NM_003378.3;VGF,missense_variant,p.Phe276Val,ENST00000445482,;VGF,missense_variant,p.Phe276Val,ENST00000611537,;AP1S1,downstream_gene_variant,,ENST00000337619,NM_001283.3;AP1S1,downstream_gene_variant,,ENST00000429457,;AP1S1,downstream_gene_variant,,ENST00000646560,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000643104,;AP1S1,downstream_gene_variant,,ENST00000443943,;AP1S1,downstream_gene_variant,,ENST00000646950,;,regulatory_region_variant,,ENSR00000215902,; C ENSG00000128564 ENST00000249330 Transcript missense_variant 1066/2575 826/1848 276/615 F/V Ttc/Gtc 1 -1 VGF HGNC HGNC:12684 protein_coding YES CCDS5712.1 ENSP00000249330 O15240 UPI000006FC7B NM_003378.3 deleterious_low_confidence(0) benign(0.085) 2/2 hmmpanther:PTHR15159 MODERATE 1 SNV 1 PASS AAC . . 101164018 RP1L1 . GRCh38 chr8 10607704 10607704 + Missense_Mutation SNP T T A 7316-2151 BS_59H6VFJX T T c.6394A>T p.Ile2132Leu p.I2132L ENST00000382483 4/4 41 27 5 27 26 0 RP1L1,missense_variant,p.Ile2132Leu,ENST00000382483,NM_178857.5; A ENSG00000183638 ENST00000382483 Transcript missense_variant 6618/7973 6394/7203 2132/2400 I/L Ata/Tta COSM5885629 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(0.4) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 1 MODERATE 1 SNV 1 1 1 PASS ATA . . 10607704 PDLIM2 . GRCh38 chr8 22579294 22579294 + Missense_Mutation SNP T T G rs1361141956 7316-2151 BS_59H6VFJX T T c.515T>G p.Leu172Arg p.L172R ENST00000308354 1/10 82 69 9 26 26 0 PDLIM2,missense_variant,p.Leu172Arg,ENST00000308354,NM_021630.5;PDLIM2,missense_variant,p.Leu172Arg,ENST00000339162,;PDLIM2,5_prime_UTR_variant,,ENST00000397760,;PDLIM2,intron_variant,,ENST00000397761,;PDLIM2,intron_variant,,ENST00000452226,;PDLIM2,intron_variant,,ENST00000456545,;SORBS3,downstream_gene_variant,,ENST00000240123,NM_005775.4;PDLIM2,upstream_gene_variant,,ENST00000265810,NM_176871.3;PDLIM2,upstream_gene_variant,,ENST00000409141,NM_198042.3;PDLIM2,upstream_gene_variant,,ENST00000409417,;PDLIM2,upstream_gene_variant,,ENST00000426493,;PDLIM2,upstream_gene_variant,,ENST00000429812,;PDLIM2,upstream_gene_variant,,ENST00000436754,;SORBS3,downstream_gene_variant,,ENST00000517962,;SORBS3,downstream_gene_variant,,ENST00000523965,NM_001018003.2;PDLIM2,upstream_gene_variant,,ENST00000616289,;PDLIM2,upstream_gene_variant,,ENST00000622702,;SORBS3,downstream_gene_variant,,ENST00000519127,;PDLIM2,upstream_gene_variant,,ENST00000416159,;SORBS3,downstream_gene_variant,,ENST00000517535,;SORBS3,downstream_gene_variant,,ENST00000520207,;,regulatory_region_variant,,ENSR00000222078,; G ENSG00000120913 ENST00000308354 Transcript missense_variant 554/2236 515/1809 172/602 L/R cTg/cGg rs1361141956 1 1 PDLIM2 HGNC HGNC:13992 protein_coding YES CCDS6032.2 ENSP00000312634 Q96JY6 UPI0000E5AE4E NM_021630.5 deleterious_low_confidence(0.01) benign(0.315) 1/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTG . . 22579294 ZNF696 . GRCh38 chr8 143296489 143296489 + Missense_Mutation SNP C C A rs1345415296 7316-2151 BS_59H6VFJX C C c.814C>A p.Gln272Lys p.Q272K ENST00000330143 3/3 106 91 8 36 34 0 ZNF696,missense_variant,p.Gln272Lys,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; A ENSG00000185730 ENST00000330143 Transcript missense_variant 1223/2795 814/1125 272/374 Q/K Cag/Aag rs1345415296 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 tolerated(1) benign(0.001) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CCA . . 143296489 ZNF696 . GRCh38 chr8 143296520 143296520 + Missense_Mutation SNP A A G rs1191916261 7316-2151 BS_59H6VFJX A A c.845A>G p.Gln282Arg p.Q282R ENST00000330143 3/3 107 89 8 38 36 1 ZNF696,missense_variant,p.Gln282Arg,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; G ENSG00000185730 ENST00000330143 Transcript missense_variant 1254/2795 845/1125 282/374 Q/R cAg/cGg rs1191916261,COSM6332675 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 deleterious(0.04) benign(0.055) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CAG . . 4.306e-06 9.57e-06 143296520 FAM219A . GRCh38 chr9 34458205 34458205 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.59T>G p.Leu20Arg p.L20R ENST00000445726 1/6 78 67 10 41 40 0 FAM219A,missense_variant,p.Leu20Arg,ENST00000445726,NM_001184940.1,NM_001184941.1;FAM219A,missense_variant,p.Leu19Arg,ENST00000379089,;FAM219A,missense_variant,p.Leu20Arg,ENST00000297620,NM_147202.1,NM_001184943.1;FAM219A,missense_variant,p.Leu19Arg,ENST00000379087,;FAM219A,missense_variant,p.Leu19Arg,ENST00000379084,;FAM219A,missense_variant,p.Leu19Arg,ENST00000422409,;FAM219A,missense_variant,p.Leu19Arg,ENST00000379078,;FAM219A,intron_variant,,ENST00000379080,NM_001184942.1;FAM219A,intron_variant,,ENST00000379081,NM_001184945.1;DNAI1,upstream_gene_variant,,ENST00000242317,NM_012144.3;DNAI1,upstream_gene_variant,,ENST00000437363,;DNAI1,upstream_gene_variant,,ENST00000614641,NM_001281428.1;DNAI1,intron_variant,,ENST00000470982,;,regulatory_region_variant,,ENSR00000234532,; C ENSG00000164970 ENST00000445726 Transcript missense_variant,splice_region_variant 366/3644 59/558 20/185 L/R cTg/cGg 1 -1 FAM219A HGNC HGNC:19920 protein_coding YES CCDS55304.1 ENSP00000392452 Q8IW50 UPI00005A2439 NM_001184940.1,NM_001184941.1 tolerated_low_confidence(0.47) benign(0.015) 1/6 mobidb-lite,hmmpanther:PTHR31281,hmmpanther:PTHR31281:SF0 MODERATE 1 SNV 2 PASS CAG . . 34458205 C9orf85 . GRCh38 chr9 71982773 71982773 + Missense_Mutation SNP C C T rs1176218231 7316-2151 BS_59H6VFJX C C c.440C>T p.Thr147Ile p.T147I ENST00000377031 4/4 72 54 7 38 34 1 C9orf85,missense_variant,p.Thr147Ile,ENST00000377031,;C9orf85,intron_variant,,ENST00000486911,; T ENSG00000155621 ENST00000377031 Transcript missense_variant 630/1107 440/540 147/179 T/I aCt/aTt rs1176218231 1 1 C9orf85 HGNC HGNC:28784 protein_coding ENSP00000366230 Q96MD7 UPI00000721E2 tolerated_low_confidence(1) benign(0) 4/4 MODERATE 1 SNV 3 PASS ACT . . 0.0001817 0.0006109 0.0001101 71982773 NR4A3 . GRCh38 chr9 99828484 99828484 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.475T>G p.Phe159Val p.F159V ENST00000618101 4/9 55 43 9 29 29 0 NR4A3,missense_variant,p.Phe159Val,ENST00000618101,NM_173200.2;NR4A3,missense_variant,p.Phe159Val,ENST00000330847,;NR4A3,missense_variant,p.Phe148Val,ENST00000395097,NM_006981.3;NR4A3,missense_variant,p.Phe148Val,ENST00000338488,NM_173199.2; G ENSG00000119508 ENST00000618101 Transcript missense_variant 1243/5706 475/1914 159/637 F/V Ttc/Gtc 1 1 NR4A3 HGNC HGNC:7982 protein_coding YES CCDS6742.1 ENSP00000482027 Q92570 UPI0000160FE4 NM_173200.2 deleterious(0.01) benign(0.194) 4/9 Gene3D:1.10.565.10,Prints_domain:PR01284,hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS CTT . . 99828484 NELFB . GRCh38 chr9 137255461 137255461 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.96A>C p.Glu32Asp p.E32D ENST00000343053 1/13 84 73 9 36 36 0 NELFB,missense_variant,p.Glu32Asp,ENST00000343053,NM_015456.4;NELFB,missense_variant,p.Glu32Asp,ENST00000634710,;STPG3,downstream_gene_variant,,ENST00000388931,NM_001256699.1;STPG3,downstream_gene_variant,,ENST00000412566,NM_001004353.3;STPG3,downstream_gene_variant,,ENST00000611378,NM_001256700.1;STPG3,downstream_gene_variant,,ENST00000620243,NM_001256701.1;STPG3-AS1,upstream_gene_variant,,ENST00000612170,;STPG3,downstream_gene_variant,,ENST00000610325,;STPG3,downstream_gene_variant,,ENST00000620716,;STPG3,downstream_gene_variant,,ENST00000622761,;,regulatory_region_variant,,ENSR00000243170,; C ENSG00000188986 ENST00000343053 Transcript missense_variant 289/2698 96/1887 32/628 E/D gaA/gaC 1 1 NELFB HGNC HGNC:24324 protein_coding YES CCDS7040.2 ENSP00000339495 A0A0X1KG71 UPI000719A1CA NM_015456.4 tolerated_low_confidence(0.3) benign(0.067) 1/13 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 137255461 OTUD1 . GRCh38 chr10 23439852 23439852 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.395T>G p.Val132Gly p.V132G ENST00000376495 1/1 54 40 11 41 38 1 OTUD1,missense_variant,p.Val132Gly,ENST00000376495,NM_001145373.2;,regulatory_region_variant,,ENSR00000025586,; G ENSG00000165312 ENST00000376495 Transcript missense_variant 395/2933 395/1446 132/481 V/G gTt/gGt 1 1 OTUD1 HGNC HGNC:27346 protein_coding YES CCDS44366.1 ENSP00000365678 Q5VV17 UPI0000458A32 NM_001145373.2 tolerated(0.22) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF15 MODERATE 1 SNV PASS GTT . . 23439852 OTUD1 . GRCh38 chr10 23439927 23439927 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.470T>G p.Val157Gly p.V157G ENST00000376495 1/1 47 37 9 43 39 3 OTUD1,missense_variant,p.Val157Gly,ENST00000376495,NM_001145373.2;,regulatory_region_variant,,ENSR00000025586,; G ENSG00000165312 ENST00000376495 Transcript missense_variant 470/2933 470/1446 157/481 V/G gTc/gGc 1 1 OTUD1 HGNC HGNC:27346 protein_coding YES CCDS44366.1 ENSP00000365678 Q5VV17 UPI0000458A32 NM_001145373.2 tolerated(0.42) benign(0.003) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF15 MODERATE 1 SNV PASS GTC . . 23439927 CDHR5 . GRCh38 chr11 618860 618860 + Missense_Mutation SNP T T C rs756760345 7316-2151 BS_59H6VFJX T T c.1699A>G p.Ser567Gly p.S567G ENST00000358353 14/16 50 33 9 35 33 1 CDHR5,missense_variant,p.Ser567Gly,ENST00000358353,;CDHR5,missense_variant,p.Ser567Gly,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; C ENSG00000099834 ENST00000358353 Transcript missense_variant 2022/3635 1699/2538 567/845 S/G Agt/Ggt rs756760345,COSM4912302 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(0.45) benign(0) 14/16 mobidb-lite,hmmpanther:PTHR45160 0,1 MODERATE SNV 5 0,1 PASS CTG . . 6.615e-05 7.153e-05 0.0003302 0.0002721 3.602e-05 618860 KRTAP5-1 . GRCh38 chr11 1585249 1585249 + Translation_Start_Site SNP T T G novel 7316-2151 BS_59H6VFJX T T c.1A>C p.Met1? p.M1? ENST00000382171 1/1 74 58 10 30 30 0 KRTAP5-1,start_lost,p.Met1?,ENST00000382171,NM_001005922.1;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000534077,; G ENSG00000205869 ENST00000382171 Transcript start_lost 35/942 1/837 1/278 M/L Atg/Ctg 1 -1 KRTAP5-1 HGNC HGNC:23596 protein_coding YES CCDS31330.1 ENSP00000371606 Q6L8H4 UPI000037605D NM_001005922.1 possibly_damaging(0.491) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF127 HIGH SNV PASS ATG . . 1585249 TRIM44 . GRCh38 chr11 35663204 35663204 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.93A>C p.Glu31Asp p.E31D ENST00000299413 1/5 65 53 11 27 27 0 TRIM44,missense_variant,p.Glu31Asp,ENST00000299413,NM_017583.5;AL138812.1,downstream_gene_variant,,ENST00000525573,;,TF_binding_site_variant,,MA0473.1,; C ENSG00000166326 ENST00000299413 Transcript missense_variant 400/12964 93/1035 31/344 E/D gaA/gaC 1 1 TRIM44 HGNC HGNC:19016 protein_coding YES CCDS31461.1 ENSP00000299413 Q96DX7 UPI00000725C5 NM_017583.5 tolerated(0.08) benign(0.012) 1/5 hmmpanther:PTHR45550 MODERATE 1 SNV 1 1 PASS AAG . . 35663204 AHNAK . GRCh38 chr11 62522284 62522284 + Missense_Mutation SNP C C T rs1264927005 7316-2151 BS_59H6VFJX C C c.12133G>A p.Asp4045Asn p.D4045N ENST00000378024 5/5 88 75 7 44 44 0 AHNAK,missense_variant,p.Asp4045Asn,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 12408/18787 12133/17673 4045/5890 D/N Gat/Aat rs1264927005 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.13) benign(0.006) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,hmmpanther:PTHR23348:SF41 MODERATE 1 SNV 2 PASS TCA . . 1.22e-05 8.979e-05 8.958e-06 62522284 PC . GRCh38 chr11 66852749 66852749 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.1601T>G p.Ile534Arg p.I534R ENST00000393960 14/23 78 65 10 41 40 0 PC,missense_variant,p.Ile534Arg,ENST00000393960,NM_001040716.1;PC,missense_variant,p.Ile534Arg,ENST00000393958,NM_000920.3;PC,missense_variant,p.Ile534Arg,ENST00000393955,NM_022172.2;LRFN4,upstream_gene_variant,,ENST00000309602,NM_024036.4;LRFN4,upstream_gene_variant,,ENST00000393952,;PC,upstream_gene_variant,,ENST00000529047,;PC,splice_region_variant,,ENST00000530259,;PC,upstream_gene_variant,,ENST00000528224,;PC,upstream_gene_variant,,ENST00000529352,;LRFN4,upstream_gene_variant,,ENST00000531590,; C ENSG00000173599 ENST00000393960 Transcript missense_variant,splice_region_variant 1883/4192 1601/3537 534/1178 I/R aTa/aGa 1 -1 PC HGNC HGNC:8636 protein_coding YES CCDS8152.1 ENSP00000377532 P11498 A0A024R5C5 UPI0000132BC4 NM_001040716.1 tolerated(0.42) benign(0.011) 14/23 Low_complexity_(Seg):seg,hmmpanther:PTHR43778,PIRSF_domain:PIRSF001594,Gene3D:3.10.600.10,TIGRFAM_domain:TIGR01235 MODERATE SNV 5 1 PASS TAT . . 66852749 MMP17 . GRCh38 chr12 131828568 131828569 + In_Frame_Ins INS - - GCC novel 7316-2151 BS_59H6VFJX - - c.76_77insCGC p.Leu25_Leu26insPro p.L25_L26insP ENST00000360564 1/10 73 62 6 33 31 0 MMP17,inframe_insertion,p.Leu25_Leu26insPro,ENST00000360564,NM_016155.5;MMP17,5_prime_UTR_variant,,ENST00000545671,;MMP17,5_prime_UTR_variant,,ENST00000545790,;,regulatory_region_variant,,ENSR00000270886,; GCC ENSG00000198598 ENST00000360564 Transcript inframe_insertion 176-177/2411 74-75/1812 25/603 L/LP ctg/ctGCCg 1 1 MMP17 HGNC HGNC:7163 protein_coding YES CCDS31927.1 ENSP00000353767 Q9ULZ9 UPI00001AF305 NM_016155.5 1/10 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF001191 MODERATE 1 insertion 1 2 PASS CTG . . 131828568 RFXAP . GRCh38 chr13 36819551 36819551 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.194T>G p.Val65Gly p.V65G ENST00000255476 1/3 79 64 11 36 34 2 RFXAP,missense_variant,p.Val65Gly,ENST00000255476,;,regulatory_region_variant,,ENSR00000061326,; G ENSG00000133111 ENST00000255476 Transcript missense_variant 328/2304 194/819 65/272 V/G gTt/gGt 1 1 RFXAP HGNC HGNC:9988 protein_coding YES CCDS9359.1 ENSP00000255476 O00287 UPI0000133812 tolerated_low_confidence(0.45) benign(0) 1/3 hmmpanther:PTHR15110 MODERATE 1 SNV 1 1 PASS GTT . . 36819551 NDFIP2 . GRCh38 chr13 79481376 79481376 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.173A>C p.Asn58Thr p.N58T ENST00000612570 1/8 76 65 9 33 33 0 NDFIP2,missense_variant,p.Asn58Thr,ENST00000612570,NM_001161407.1,NM_019080.2;NDFIP2,missense_variant,p.Asn58Thr,ENST00000218652,;NDFIP2,upstream_gene_variant,,ENST00000487865,;NDFIP2,upstream_gene_variant,,ENST00000620924,;NDFIP2-AS1,upstream_gene_variant,,ENST00000457171,;NDFIP2,upstream_gene_variant,,ENST00000465762,;,regulatory_region_variant,,ENSR00000064127,; C ENSG00000102471 ENST00000612570 Transcript missense_variant 253/4648 173/1011 58/336 N/T aAc/aCc 1 1 NDFIP2 HGNC HGNC:18537 protein_coding YES CCDS31998.1 ENSP00000480798 Q9NV92 UPI000015F962 NM_001161407.1,NM_019080.2 tolerated_low_confidence(0.08) benign(0) 1/8 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 79481376 PPP1R3E . GRCh38 chr14 23301587 23301587 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.689T>G p.Ile230Ser p.I230S ENST00000452015 2/5 78 66 9 35 33 2 PPP1R3E,missense_variant,p.Ile230Ser,ENST00000452015,NM_001276318.1;BCL2L2,intron_variant,,ENST00000553824,;PPP1R3E,upstream_gene_variant,,ENST00000558058,;PPP1R3E,upstream_gene_variant,,ENST00000559314,;PPP1R3E,upstream_gene_variant,,ENST00000559942,;PPP1R3E,upstream_gene_variant,,ENST00000560913,;HOMEZ,upstream_gene_variant,,ENST00000561013,;PPP1R3E,upstream_gene_variant,,ENST00000561437,;PPP1R3E,upstream_gene_variant,,ENST00000560073,;PPP1R3E,upstream_gene_variant,,ENST00000561426,;PPP1R3E,upstream_gene_variant,,ENST00000561178,;,regulatory_region_variant,,ENSR00000066724,;,TF_binding_site_variant,,MA0531.1,; C ENSG00000235194 ENST00000452015 Transcript missense_variant 961/4773 689/840 230/279 I/S aTt/aGt 1 -1 PPP1R3E HGNC HGNC:14943 protein_coding YES CCDS61403.1 ENSP00000408288 Q9H7J1 UPI00001C1F69 NM_001276318.1 tolerated(0.38) benign(0) 2/5 PROSITE_profiles:PS51159,hmmpanther:PTHR12307:SF20,hmmpanther:PTHR12307,Pfam_domain:PF03370,Gene3D:2.60.40.10 MODERATE 1 SNV 2 PASS AAT . . 23301587 BCL11B . GRCh38 chr14 99175133 99175133 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.1703A>C p.Asn568Thr p.N568T ENST00000357195 4/4 44 35 7 29 29 0 BCL11B,missense_variant,p.Asn497Thr,ENST00000345514,NM_001282238.1,NM_022898.2;BCL11B,missense_variant,p.Asn568Thr,ENST00000357195,NM_001282237.1,NM_138576.3;BCL11B,missense_variant,p.Asn374Thr,ENST00000443726,;,regulatory_region_variant,,ENSR00000072909,; G ENSG00000127152 ENST00000357195 Transcript missense_variant 1713/7559 1703/2685 568/894 N/T aAc/aCc 1 -1 BCL11B HGNC HGNC:13222 protein_coding YES CCDS9950.1 ENSP00000349723 Q9C0K0 L8B7P7 UPI000006E083 NM_001282237.1,NM_138576.3 deleterious(0.02) possibly_damaging(0.837) 4/4 hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45,mobidb-lite MODERATE 1 SNV 1 1 PASS GTT . . 99175133 SOX8 . GRCh38 chr16 982068 982068 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.146T>G p.Val49Gly p.V49G ENST00000293894 1/3 50 40 8 39 37 0 SOX8,missense_variant,p.Val49Gly,ENST00000293894,NM_014587.4;LMF1,upstream_gene_variant,,ENST00000570014,;AC009041.2,upstream_gene_variant,,ENST00000562570,;AC009041.2,upstream_gene_variant,,ENST00000563837,;AC009041.2,upstream_gene_variant,,ENST00000563863,;AC009041.2,upstream_gene_variant,,ENST00000565069,;AC009041.2,upstream_gene_variant,,ENST00000565467,;AC009041.2,upstream_gene_variant,,ENST00000568394,;LMF1,upstream_gene_variant,,ENST00000545827,NM_001352017.1;SOX8,upstream_gene_variant,,ENST00000566034,;,regulatory_region_variant,,ENSR00000082273,; G ENSG00000005513 ENST00000293894 Transcript missense_variant 261/3049 146/1341 49/446 V/G gTg/gGg 1 1 SOX8 HGNC HGNC:11203 protein_coding YES CCDS10428.1 ENSP00000293894 P57073 UPI00000015FB NM_014587.4 tolerated(0.39) benign(0) 1/3 Pfam_domain:PF12444,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF20,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 982068 TBX6 . GRCh38 chr16 30090853 30090853 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.258T>G p.His86Gln p.H86Q ENST00000395224 3/9 76 60 16 41 40 0 TBX6,missense_variant,p.His86Gln,ENST00000553607,;TBX6,missense_variant,p.His86Gln,ENST00000395224,NM_004608.3;TBX6,missense_variant,p.His86Gln,ENST00000279386,;TBX6,missense_variant,p.His86Gln,ENST00000627355,;YPEL3,downstream_gene_variant,,ENST00000398838,NM_001145524.1;YPEL3,downstream_gene_variant,,ENST00000398841,NM_031477.4;YPEL3,downstream_gene_variant,,ENST00000562641,;YPEL3,downstream_gene_variant,,ENST00000563788,;YPEL3,downstream_gene_variant,,ENST00000565110,;YPEL3,downstream_gene_variant,,ENST00000566134,;YPEL3,downstream_gene_variant,,ENST00000566595,;YPEL3,downstream_gene_variant,,ENST00000565479,;YPEL3,downstream_gene_variant,,ENST00000568674,;TBX6,missense_variant,p.His86Gln,ENST00000567664,;YPEL3,downstream_gene_variant,,ENST00000566401,;YPEL3,downstream_gene_variant,,ENST00000568681,;YPEL3,downstream_gene_variant,,ENST00000570099,; C ENSG00000149922 ENST00000395224 Transcript missense_variant 318/1803 258/1311 86/436 H/Q caT/caG 1 -1 TBX6 HGNC HGNC:11605 protein_coding YES CCDS10670.1 ENSP00000378650 O95947 UPI000013DBC7 NM_004608.3 tolerated(0.57) benign(0.003) 3/9 hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF100 MODERATE 1 SNV 1 1 PASS AAT . . 30090853 CSNK2A2 . GRCh38 chr16 58197735 58197735 + Translation_Start_Site SNP A A C novel 7316-2151 BS_59H6VFJX A A c.2T>G p.Met1? p.M1? ENST00000262506 1/12 34 20 9 20 20 0 CSNK2A2,start_lost,p.Met1?,ENST00000262506,NM_001896.2;CSNK2A2,start_lost,p.Met1?,ENST00000565188,;AC009107.1,intron_variant,,ENST00000561923,;RN7SL645P,downstream_gene_variant,,ENST00000496148,;CSNK2A2,upstream_gene_variant,,ENST00000566813,;CSNK2A2,upstream_gene_variant,,ENST00000562367,;,regulatory_region_variant,,ENSR00000086548,; C ENSG00000070770 ENST00000262506 Transcript start_lost 186/1701 2/1053 1/350 M/R aTg/aGg 1 -1 CSNK2A2 HGNC HGNC:2459 protein_coding YES CCDS10794.1 ENSP00000262506 P19784 UPI0000000C95 NM_001896.2 deleterious_low_confidence(0) benign(0.046) 1/12 PDB-ENSP_mappings:3e3b.X,PDB-ENSP_mappings:3ofm.A,PDB-ENSP_mappings:5m4u.A,PDB-ENSP_mappings:5m56.A,PDB-ENSP_mappings:5m56.B,PDB-ENSP_mappings:5ooi.A,PDB-ENSP_mappings:5ooi.B,hmmpanther:PTHR24054,hmmpanther:PTHR24054:SF28 HIGH 1 SNV 1 PASS CAT . . 58197735 DNAAF1 . GRCh38 chr16 84170266 84170266 + Nonsense_Mutation SNP A A T novel 7316-2151 BS_59H6VFJX A A c.1438A>T p.Lys480Ter p.K480* ENST00000378553 8/12 66 44 9 35 32 0 DNAAF1,stop_gained,p.Lys480Ter,ENST00000378553,NM_178452.5;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,NM_001318756.1;DNAAF1,downstream_gene_variant,,ENST00000567666,;DNAAF1,upstream_gene_variant,,ENST00000623406,;DNAAF1,missense_variant,p.Glu417Val,ENST00000563093,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,; T ENSG00000154099 ENST00000378553 Transcript stop_gained 1562/2379 1438/2178 480/725 K/* Aag/Tag 1 1 DNAAF1 HGNC HGNC:30539 protein_coding YES CCDS10943.2 ENSP00000367815 Q8NEP3 A0A140VJN4 UPI000059D3C9 NM_178452.5 8/12 mobidb-lite HIGH 1 SNV 1 1 PASS GAA . . 84170266 PLPPR3 . GRCh38 chr19 813412 813412 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.1399A>C p.Met467Leu p.M467L ENST00000359894 7/7 57 48 8 33 32 0 PLPPR3,missense_variant,p.Met467Leu,ENST00000359894,NM_024888.2;PLPPR3,missense_variant,p.Met439Leu,ENST00000520876,NM_001270366.1;PTBP1,downstream_gene_variant,,ENST00000349038,NM_031991.3;PTBP1,downstream_gene_variant,,ENST00000350092,;PTBP1,downstream_gene_variant,,ENST00000356948,NM_002819.4;PTBP1,downstream_gene_variant,,ENST00000394601,NM_031990.3;PLPPR3,downstream_gene_variant,,ENST00000517665,;PLPPR3,downstream_gene_variant,,ENST00000519502,;PTBP1,downstream_gene_variant,,ENST00000585535,;PTBP1,downstream_gene_variant,,ENST00000585956,;PTBP1,downstream_gene_variant,,ENST00000587191,;PTBP1,downstream_gene_variant,,ENST00000627714,;PTBP1,downstream_gene_variant,,ENST00000635647,;MIR3187,upstream_gene_variant,,ENST00000583431,;PTBP1,downstream_gene_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000585932,;PTBP1,downstream_gene_variant,,ENST00000586944,;PTBP1,downstream_gene_variant,,ENST00000621737,;,regulatory_region_variant,,ENSR00000286972,; G ENSG00000129951 ENST00000359894 Transcript missense_variant 1463/2387 1399/2241 467/746 M/L Atg/Ctg 1 -1 PLPPR3 HGNC HGNC:23497 protein_coding YES CCDS12043.1 ENSP00000352962 Q6T4P5 UPI00000730B6 NM_024888.2 tolerated(0.73) benign(0.003) 7/7 mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF14 MODERATE 1 SNV 1 PASS ATG . . 813412 PLIN4 . GRCh38 chr19 4512357 4512357 + Missense_Mutation SNP C C T rs201981653 7316-2151 BS_59H6VFJX C C c.1561G>A p.Val521Ile p.V521I ENST00000301286 3/6 65 54 6 38 37 0 PLIN4,missense_variant,p.Val536Ile,ENST00000633942,;PLIN4,missense_variant,p.Val521Ile,ENST00000301286,NM_001080400.1; T ENSG00000167676 ENST00000301286 Transcript missense_variant 1561/6353 1561/4074 521/1357 V/I Gtc/Atc rs201981653,COSM998014,COSM1564432 1 -1 PLIN4 HGNC HGNC:29393 protein_coding YES CCDS45927.1 ENSP00000301286 Q96Q06 UPI00001D822A NM_001080400.1 tolerated(0.07) probably_damaging(0.996) 3/6 Gene3D:1.20.5.1230,hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF31 0.0004 0.0015 0.0002496 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ACG . . 3.251e-05 0.0002621 3.582e-05 4512357 ZNF700 . GRCh38 chr19 11949756 11949756 + Missense_Mutation SNP C C A rs1422772142 7316-2151 BS_59H6VFJX C C c.1741C>A p.His581Asn p.H581N ENST00000622593 4/4 54 41 10 46 46 0 ZNF700,missense_variant,p.His560Asn,ENST00000482090,;ZNF700,missense_variant,p.His581Asn,ENST00000622593,NM_001271848.1;ZNF700,missense_variant,p.His578Asn,ENST00000254321,NM_144566.2;AC008770.2,intron_variant,,ENST00000590798,;AC008770.2,intron_variant,,ENST00000591944,;AC008770.3,intron_variant,,ENST00000586394,;AC008770.2,intron_variant,,ENST00000591441,;AC008770.2,upstream_gene_variant,,ENST00000586354,; A ENSG00000196757 ENST00000622593 Transcript missense_variant 1884/2901 1741/2238 581/745 H/N Cac/Aac rs1422772142,COSM5854649 1 1 ZNF700 HGNC HGNC:25292 protein_coding YES CCDS74289.1 ENSP00000479449 A0A087WVH9 UPI0002A097BD NM_001271848.1 tolerated(0.29) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.40.155.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE SNV 4 0,1 PASS ACA . . 11949756 MAST1 . GRCh38 chr19 12874240 12874240 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.4083A>C p.Glu1361Asp p.E1361D ENST00000251472 26/26 76 66 8 41 40 0 MAST1,missense_variant,p.Glu1361Asp,ENST00000251472,NM_014975.2;DNASE2,downstream_gene_variant,,ENST00000222219,NM_001375.2;DNASE2,downstream_gene_variant,,ENST00000592506,;HOOK2,upstream_gene_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000585791,;DNASE2,downstream_gene_variant,,ENST00000586547,;DNASE2,downstream_gene_variant,,ENST00000588777,;MAST1,downstream_gene_variant,,ENST00000590553,; C ENSG00000105613 ENST00000251472 Transcript missense_variant 4122/4833 4083/4713 1361/1570 E/D gaA/gaC 1 1 MAST1 HGNC HGNC:19034 protein_coding YES CCDS32921.1 ENSP00000251472 Q9Y2H9 UPI000004A042 NM_014975.2 tolerated_low_confidence(0.06) benign(0) 26/26 mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 12874240 AKAP8L . GRCh38 chr19 15418922 15418922 + Translation_Start_Site SNP A A C novel 7316-2151 BS_59H6VFJX A A c.2T>G p.Met1? p.M1? ENST00000397410 1/14 86 70 14 38 38 0 AKAP8L,start_lost,p.Met1?,ENST00000397410,NM_014371.3;AKAP8L,start_lost,p.Met1?,ENST00000595465,NM_001291478.1;AKAP8L,start_lost,p.Met1?,ENST00000596195,;AKAP8L,start_lost,p.Met1?,ENST00000595067,;AKAP8L,intron_variant,,ENST00000600247,;WIZ,downstream_gene_variant,,ENST00000263381,NM_021241.2;WIZ,downstream_gene_variant,,ENST00000389282,NM_001330395.1;WIZ,downstream_gene_variant,,ENST00000545156,;WIZ,downstream_gene_variant,,ENST00000599686,;WIZ,downstream_gene_variant,,ENST00000599910,;WIZ,downstream_gene_variant,,ENST00000643092,;AKAP8L,upstream_gene_variant,,ENST00000595136,;AKAP8L,upstream_gene_variant,,ENST00000599488,;AKAP8L,start_lost,p.Met1?,ENST00000594594,;AKAP8L,start_lost,p.Met1?,ENST00000609519,;AKAP8L,start_lost,p.Met1?,ENST00000599137,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000593845,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000594893,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000596213,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000601147,;,regulatory_region_variant,,ENSR00000107646,; C ENSG00000011243 ENST00000397410 Transcript start_lost 133/2146 2/1941 1/646 M/R aTg/aGg 1 -1 AKAP8L HGNC HGNC:29857 protein_coding YES CCDS46005.1 ENSP00000380557 Q9ULX6 UPI000012FC34 NM_014371.3 deleterious_low_confidence(0) probably_damaging(0.974) 1/14 HIGH 1 SNV 1 PASS CAT . . 15418922 RASAL3 . GRCh38 chr19 15461526 15461526 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.410T>G p.Ile137Ser p.I137S ENST00000343625 3/18 66 56 6 27 27 0 RASAL3,missense_variant,p.Ile137Ser,ENST00000343625,NM_022904.1;RASAL3,upstream_gene_variant,,ENST00000599694,;RASAL3,upstream_gene_variant,,ENST00000595098,;RASAL3,upstream_gene_variant,,ENST00000608577,;RASAL3,non_coding_transcript_exon_variant,,ENST00000602101,;RASAL3,upstream_gene_variant,,ENST00000597025,; C ENSG00000105122 ENST00000343625 Transcript missense_variant 496/3293 410/3036 137/1011 I/S aTt/aGt 1 -1 RASAL3 HGNC HGNC:26129 protein_coding YES CCDS46006.1 ENSP00000341905 Q86YV0 UPI0000197831 NM_022904.1 deleterious(0) probably_damaging(0.987) 3/18 hmmpanther:PTHR10194:SF96,hmmpanther:PTHR10194 MODERATE 1 SNV 2 PASS AAT . . 15461526 ZNF723 . GRCh38 chr19 22858236 22858236 + Nonsense_Mutation SNP A A T novel 7316-2151 BS_59H6VFJX A A c.1345A>T p.Lys449Ter p.K449* ENST00000600766 4/4 52 40 5 42 39 0 ZNF723,stop_gained,p.Lys449Ter,ENST00000600766,NM_001349726.1;VN1R88P,upstream_gene_variant,,ENST00000596787,; T ENSG00000268696 ENST00000600766 Transcript stop_gained 1404/1835 1345/1542 449/513 K/* Aaa/Taa 1 1 ZNF723 HGNC HGNC:32286 protein_coding YES ENSP00000494306 P0DPD5 UPI0009ACDB03 NM_001349726.1 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 HIGH 1 SNV PASS TAA . . 22858236 ZNF724 . GRCh38 chr19 23222501 23222501 + Missense_Mutation SNP C C T rs878869991 7316-2151 BS_59H6VFJX C C c.1744G>A p.Val582Ile p.V582I ENST00000418100 4/4 57 45 5 45 45 0 ZNF724,missense_variant,p.Val582Ile,ENST00000418100,NM_001355404.1,NM_001355406.1,NM_001355405.1;ZNF724,downstream_gene_variant,,ENST00000597537,;AC092329.3,downstream_gene_variant,,ENST00000611392,; T ENSG00000196081 ENST00000418100 Transcript missense_variant 1862/2764 1744/1860 582/619 V/I Gta/Ata rs878869991,COSM5571657,COSM5571656 1 -1 ZNF724 HGNC HGNC:32460 protein_coding YES ENSP00000413411 A8MTY0 UPI0000EE61E4 NM_001355404.1,NM_001355406.1,NM_001355405.1 tolerated(0.54) benign(0.003) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS ACC . . 8.01e-05 7.112e-05 0.0003162 4.061e-05 0.0002172 0.0002226 23222501 ZNF91 . GRCh38 chr19 23360805 23360805 + Missense_Mutation SNP C C T rs764441211 7316-2151 BS_59H6VFJX C C c.2174G>A p.Arg725Gln p.R725Q ENST00000300619 4/4 41 34 5 43 43 0 ZNF91,missense_variant,p.Arg725Gln,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Arg693Gln,ENST00000397082,NM_001300951.1;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,; T ENSG00000167232 ENST00000300619 Transcript missense_variant 2380/5489 2174/3576 725/1191 R/Q cGa/cAa rs764441211,COSM994110,COSM1589988 1 -1 ZNF91 HGNC HGNC:13166 protein_coding YES CCDS42541.1 ENSP00000300619 Q05481 UPI00002038F9 NM_003430.3 tolerated(1) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF42,hmmpanther:PTHR24376:SF42,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TCG . . 1.287e-05 6.335e-05 9.499e-06 23360805 ZNF726 . GRCh38 chr19 23932970 23932970 + Missense_Mutation SNP G G A rs879109825 7316-2151 BS_59H6VFJX G G c.854G>A p.Cys285Tyr p.C285Y ENST00000594466 4/4 65 51 8 34 34 0 ZNF726,missense_variant,p.Cys285Tyr,ENST00000594466,NM_001244038.1;ZNF726,missense_variant,p.Cys285Tyr,ENST00000322487,;ZNF726,intron_variant,,ENST00000334589,;ZNF726,intron_variant,,ENST00000575986,NM_001348687.1;AC011503.1,intron_variant,,ENST00000596326,;AC011503.2,downstream_gene_variant,,ENST00000594230,;ZNF92P3,upstream_gene_variant,,ENST00000596594,; A ENSG00000213967 ENST00000594466 Transcript missense_variant 959/2473 854/1851 285/616 C/Y tGc/tAc rs879109825,COSM6237309 1 1 ZNF726 HGNC HGNC:32462 protein_coding YES CCDS59372.1 ENSP00000471516 A6NNF4 UPI0002255F7F NM_001244038.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,PROSITE_patterns:PS00028,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE SNV 5 0,1 PASS TGC . . 4.143e-06 5.887e-05 23932970 PAF1 . GRCh38 chr19 39389673 39389673 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.259A>C p.Ile87Leu p.I87L ENST00000221265 4/14 74 66 7 45 45 0 PAF1,missense_variant,p.Ile87Leu,ENST00000221265,NM_019088.3;PAF1,missense_variant,p.Ile77Leu,ENST00000595564,NM_001256826.1;SAMD4B,downstream_gene_variant,,ENST00000314471,NM_018028.3;MED29,upstream_gene_variant,,ENST00000315588,NM_017592.2;MED29,upstream_gene_variant,,ENST00000594368,NM_001317770.1;PAF1,upstream_gene_variant,,ENST00000595379,;MED29,upstream_gene_variant,,ENST00000596297,;SAMD4B,downstream_gene_variant,,ENST00000596368,;MED29,upstream_gene_variant,,ENST00000599213,;SAMD4B,downstream_gene_variant,,ENST00000610417,;SAMD4B,downstream_gene_variant,,ENST00000611159,;MED29,upstream_gene_variant,,ENST00000615911,;PAF1,non_coding_transcript_exon_variant,,ENST00000595797,;PAF1,intron_variant,,ENST00000416728,;SAMD4B,downstream_gene_variant,,ENST00000596271,;PAF1,downstream_gene_variant,,ENST00000597365,;PAF1,downstream_gene_variant,,ENST00000598127,;PAF1,upstream_gene_variant,,ENST00000598594,;MED29,upstream_gene_variant,,ENST00000599417,;MED29,upstream_gene_variant,,ENST00000600973,; G ENSG00000006712 ENST00000221265 Transcript missense_variant 590/2066 259/1596 87/531 I/L Atc/Ctc 1 -1 PAF1 HGNC HGNC:25459 protein_coding YES CCDS12533.1 ENSP00000221265 Q8N7H5 A0A024R0H6 UPI000006D489 NM_019088.3 deleterious(0.02) probably_damaging(0.971) 4/14 Pfam_domain:PF03985,hmmpanther:PTHR23188,hmmpanther:PTHR23188:SF12 MODERATE 1 SNV 1 PASS ATG . . 39389673 NOVA2 . GRCh38 chr19 45940353 45940353 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.989A>C p.Tyr330Ser p.Y330S ENST00000263257 4/4 60 46 9 40 40 0 NOVA2,missense_variant,p.Tyr330Ser,ENST00000263257,NM_002516.3;NOVA2,downstream_gene_variant,,ENST00000596784,; G ENSG00000104967 ENST00000263257 Transcript missense_variant 1184/7803 989/1479 330/492 Y/S tAc/tCc 1 -1 NOVA2 HGNC HGNC:7887 protein_coding YES CCDS12679.1 ENSP00000263257 Q9UNW9 UPI000006EBE8 NM_002516.3 tolerated(0.12) possibly_damaging(0.829) 4/4 hmmpanther:PTHR10288:SF162,hmmpanther:PTHR10288 MODERATE 1 SNV 1 PASS GTA . . 45940353 ZNF677 . GRCh38 chr19 53237631 53237631 + Missense_Mutation SNP C C G 7316-2151 BS_59H6VFJX C C c.1096G>C p.Glu366Gln p.E366Q ENST00000598513 5/5 50 44 6 43 43 0 ZNF677,missense_variant,p.Glu366Gln,ENST00000598513,NM_182609.3,NM_001317998.1;ZNF677,missense_variant,p.Glu366Gln,ENST00000333952,;ZNF677,downstream_gene_variant,,ENST00000594517,;ZNF677,downstream_gene_variant,,ENST00000594681,;ZNF677,downstream_gene_variant,,ENST00000598806,;ZNF677,downstream_gene_variant,,ENST00000599012,;AC092070.3,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000593539,;ZNF677,downstream_gene_variant,,ENST00000599328,; G ENSG00000197928 ENST00000598513 Transcript missense_variant 1247/3497 1096/1755 366/584 E/Q Gaa/Caa COSM3538314 1 -1 ZNF677 HGNC HGNC:28730 protein_coding YES CCDS12861.1 ENSP00000469391 Q86XU0 UPI000017DF85 NM_182609.3,NM_001317998.1 tolerated(1) benign(0.078) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF698,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS TCA . . 53237631 CLIC6 . GRCh38 chr21 34670207 34670207 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.819A>C p.Glu273Asp p.E273D ENST00000360731 1/7 89 59 11 33 30 0 CLIC6,missense_variant,p.Glu273Asp,ENST00000360731,NM_001317009.1;CLIC6,missense_variant,p.Glu273Asp,ENST00000349499,NM_053277.2; C ENSG00000159212 ENST00000360731 Transcript missense_variant 819/3860 819/2115 273/704 E/D gaA/gaC 1 1 CLIC6 HGNC HGNC:2065 protein_coding YES CCDS82669.1 ENSP00000353959 Q96NY7 UPI0000074422 NM_001317009.1 tolerated(0.09) benign(0.122) 1/7 mobidb-lite,hmmpanther:PTHR45476 MODERATE 1 SNV 1 PASS AAG . . 34670207 KRTAP10-11 . GRCh38 chr21 44646758 44646758 + Missense_Mutation SNP T T G novel 7316-2151 BS_59H6VFJX T T c.300T>G p.Cys100Trp p.C100W ENST00000334670 1/1 95 78 9 55 53 0 KRTAP10-11,missense_variant,p.Cys100Trp,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000642437,; G ENSG00000243489 ENST00000334670 Transcript missense_variant 345/1237 300/897 100/298 C/W tgT/tgG 1 1 KRTAP10-11 HGNC HGNC:20528 protein_coding YES CCDS42962.1 ENSP00000334197 P60412 UPI000040FC94 NM_198692.2 deleterious(0) probably_damaging(0.988) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF125,Low_complexity_(Seg):seg MODERATE SNV PASS GTG . . 44646758 NEFH . GRCh38 chr22 29489241 29489241 + Missense_Mutation SNP A A T novel 7316-2151 BS_59H6VFJX A A c.1601A>T p.Glu534Val p.E534V ENST00000310624 4/4 75 62 7 47 44 0 NEFH,missense_variant,p.Glu534Val,ENST00000310624,NM_021076.3;,regulatory_region_variant,,ENSR00000145068,;,TF_binding_site_variant,,MA0154.2,; T ENSG00000100285 ENST00000310624 Transcript missense_variant 1634/3783 1601/3063 534/1020 E/V gAg/gTg 1 1 NEFH HGNC HGNC:7737 protein_coding YES CCDS13858.1 ENSP00000311997 P12036 UPI00001AEF71 NM_021076.3 tolerated(0.28) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23214 MODERATE 1 SNV 1 1 PASS GAG . . 29489241 ARSA . GRCh38 chr22 50627028 50627028 + Missense_Mutation SNP A A C novel 7316-2151 BS_59H6VFJX A A c.490T>G p.Phe164Val p.F164V ENST00000216124 3/8 68 53 12 36 36 0 ARSA,missense_variant,p.Phe164Val,ENST00000216124,NM_000487.5;ARSA,missense_variant,p.Phe164Val,ENST00000395621,NM_001085425.2;ARSA,missense_variant,p.Phe164Val,ENST00000356098,NM_001085426.2;ARSA,missense_variant,p.Phe164Val,ENST00000395619,NM_001085427.2;ARSA,missense_variant,p.Phe78Val,ENST00000453344,NM_001085428.2;ARSA,upstream_gene_variant,,ENST00000610191,;ARSA,non_coding_transcript_exon_variant,,ENST00000551731,;ARSA,upstream_gene_variant,,ENST00000608497,; C ENSG00000100299 ENST00000216124 Transcript missense_variant 883/2050 490/1530 164/509 F/V Ttc/Gtc 1 -1 ARSA HGNC HGNC:713 protein_coding YES CCDS14100.2 ENSP00000216124 A0A0C4DFZ2 UPI000013C6C4 NM_000487.5 deleterious(0) probably_damaging(0.999) 3/8 cd16158,hmmpanther:PTHR42693,hmmpanther:PTHR42693:SF11,Gene3D:3.40.720.10,Pfam_domain:PF00884,Superfamily_domains:SSF53649 MODERATE 1 SNV 1 1 PASS AAG . . 50627028 CCDC30 . GRCh38 chr1 42536529 42536530 + Frame_Shift_Del DEL AG AG - rs372826618 7316-89 BS_579DARY4 AG AG c.60_61del p.Lys21AlafsTer7 p.K21Afs*7 ENST00000342022 2/16 82 64 9 36 35 0 CCDC30,frameshift_variant,p.Lys177AlafsTer7,ENST00000340612,;CCDC30,frameshift_variant,p.Lys21AlafsTer7,ENST00000342022,NM_001080850.2;CCDC30,frameshift_variant,p.Lys21AlafsTer7,ENST00000428554,;CCDC30,non_coding_transcript_exon_variant,,ENST00000471390,;CCDC30,5_prime_UTR_variant,,ENST00000477155,NM_001355224.1;CCDC30,3_prime_UTR_variant,,ENST00000509712,;CCDC30,non_coding_transcript_exon_variant,,ENST00000495044,;CCDC30,intron_variant,,ENST00000507855,;CCDC30,upstream_gene_variant,,ENST00000514642,; - ENSG00000186409 ENST00000342022 Transcript frameshift_variant 155-156/3098 45-46/2352 15-16/783 KE/KX aaAGag/aaag rs372826618,COSM4765196,COSM391243 1 1 CCDC30 HGNC HGNC:26103 protein_coding YES CCDS30690.1 ENSP00000339280 Q5VVM6 UPI0000458A0B NM_001080850.2 2/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34479 0,1,1 HIGH 1 deletion 5 15 0,1,1 PASS AAAGA . . 0.04966 0.04516 0.08702 0.0634 0.07094 0.01823 0.03814 0.0696 0.07778 42536528 XPC . GRCh38 chr3 14178466 14178468 + In_Frame_Del DEL CCT CCT - rs750450365 7316-89 BS_579DARY4 CCT CCT c.101_103del p.Glu34del p.E34del ENST00000285021 1/16 74 63 5 30 27 0 XPC,inframe_deletion,p.Glu34del,ENST00000285021,NM_004628.4,NM_001354729.1;LSM3,5_prime_UTR_variant,,ENST00000306024,NM_014463.2;XPC,intron_variant,,ENST00000511155,;XPC,inframe_deletion,p.Glu34del,ENST00000476581,;,regulatory_region_variant,,ENSR00000148882,; - ENSG00000154767 ENST00000285021 Transcript inframe_deletion,splice_region_variant 316-318/3832 101-103/2823 34-35/940 ED/D gAGGat/gat rs750450365,TMP_ESP_3_14219966_14219968,COSM128738 1 -1 XPC HGNC HGNC:12816 protein_coding YES CCDS46763.1 ENSP00000285021 Q01831 X5DRB1 UPI000196375E NM_004628.4,NM_001354729.1 1/16 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12135:SF0,hmmpanther:PTHR12135 0.08597 0.09028 0,0,1 MODERATE 1 deletion 1 0,0,1 1 PASS ACCCTC . . 0.001475 0.0007729 0.0009105 0.002503 0.0008807 0.003219 0.001388 0.001698 0.001571 14178465 AC099542.1 . GRCh38 chr3 81252248 81252248 + Splice_Region DEL A A - rs1410813432 7316-89 BS_579DARY4 A A n.251-3del ENST00000464131 57 32 11 33 28 0 AC099542.1,splice_region_variant,,ENST00000464131,;AC099542.1,splice_region_variant,,ENST00000478239,; - ENSG00000241593 ENST00000464131 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1410813432 1 -1 AC099542.1 Clone_based_ensembl_gene lincRNA YES 2/4 LOW 1 deletion 5 PASS CTAA . . 81252247 ABCF3 . GRCh38 chr3 184188377 184188377 + Missense_Mutation SNP G G A rs763969682 7316-89 BS_579DARY4 G G c.806G>A p.Arg269Gln p.R269Q ENST00000429586 7/21 67 44 21 35 35 0 ABCF3,missense_variant,p.Arg269Gln,ENST00000429586,NM_018358.2,NM_001351299.1,NM_001351298.1;ABCF3,missense_variant,p.Arg263Gln,ENST00000292808,;AP2M1,downstream_gene_variant,,ENST00000292807,NM_004068.3;AP2M1,downstream_gene_variant,,ENST00000382456,NM_001025205.1;AP2M1,downstream_gene_variant,,ENST00000411763,NM_001311198.1;AP2M1,downstream_gene_variant,,ENST00000439647,;AP2M1,downstream_gene_variant,,ENST00000621863,;AP2M1,downstream_gene_variant,,ENST00000461733,;ABCF3,non_coding_transcript_exon_variant,,ENST00000473311,;ABCF3,non_coding_transcript_exon_variant,,ENST00000498136,;ABCF3,non_coding_transcript_exon_variant,,ENST00000472608,;ABCF3,non_coding_transcript_exon_variant,,ENST00000471226,;ABCF3,downstream_gene_variant,,ENST00000421340,;ABCF3,downstream_gene_variant,,ENST00000463685,;ABCF3,downstream_gene_variant,,ENST00000466416,;ABCF3,upstream_gene_variant,,ENST00000466742,;ABCF3,upstream_gene_variant,,ENST00000468892,;ABCF3,upstream_gene_variant,,ENST00000475728,;ABCF3,downstream_gene_variant,,ENST00000478288,;ABCF3,upstream_gene_variant,,ENST00000480539,;ABCF3,upstream_gene_variant,,ENST00000480562,;ABCF3,downstream_gene_variant,,ENST00000481116,;ABCF3,downstream_gene_variant,,ENST00000485921,;ABCF3,upstream_gene_variant,,ENST00000489719,; A ENSG00000161204 ENST00000429586 Transcript missense_variant 991/2624 806/2130 269/709 R/Q cGg/cAg rs763969682 1 1 ABCF3 HGNC HGNC:72 protein_coding YES CCDS3254.1 ENSP00000411471 Q9NUQ8 A0A0S2Z5L1 UPI000007270D NM_018358.2,NM_001351299.1,NM_001351298.1 tolerated(0.2) benign(0.003) 7/21 Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF45,SMART_domains:SM00382,cd03221,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CGG . . 1.232e-05 2.723e-05 184188377 MUC17 . GRCh38 chr7 101039550 101039550 + Missense_Mutation SNP C C G rs34223735 7316-89 BS_579DARY4 C C c.8134C>G p.Leu2712Val p.L2712V ENST00000306151 3/13 87 78 8 38 38 0 MUC17,missense_variant,p.Leu2712Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Leu2712Val,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 8198/14247 8134/13482 2712/4493 L/V Ctt/Gtt rs34223735,COSM6990751 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.2) benign(0.003) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CCT . . 0.0003477 0.0003025 0.000289 0.0006908 0.000284 0.0003453 0.0006066 0.0005495 101039550 MUC17 . GRCh38 chr7 101039562 101039562 + Missense_Mutation SNP C C G rs34924040 7316-89 BS_579DARY4 C C c.8146C>G p.Pro2716Ala p.P2716A ENST00000306151 3/13 91 80 10 46 46 0 MUC17,missense_variant,p.Pro2716Ala,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro2716Ala,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 8210/14247 8146/13482 2716/4493 P/A Cct/Gct rs34924040,COSM4594221 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.17) benign(0.003) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 0.001664 0.003299 0.001088 0.003043 0.0002523 0.000724 0.001543 0.001338 0.003361 101039562 MUC5AC . GRCh38 chr11 1189912 1189912 + Missense_Mutation SNP C C A rs1317669166 7316-89 BS_579DARY4 C C c.11767C>A p.Pro3923Thr p.P3923T ENST00000621226 31/49 67 55 12 46 46 0 MUC5AC,missense_variant,p.Pro3923Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; A ENSG00000215182 ENST00000621226 Transcript missense_variant 11814/17448 11767/16965 3923/5654 P/T Ccc/Acc rs1317669166 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.5) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TCC . . 1189912 FOLH1 . GRCh38 chr11 49186767 49186767 + Splice_Region SNP G G A rs79155991 7316-89 BS_579DARY4 G G c.516C>T p.Gly172= p.G172= ENST00000256999 5/19 101 89 8 45 45 0 FOLH1,splice_region_variant,p.Gly157=,ENST00000340334,NM_001193471.1;FOLH1,splice_region_variant,p.Gly172=,ENST00000256999,NM_004476.1,NM_001193473.1;FOLH1,splice_region_variant,p.Gly172=,ENST00000356696,NM_001014986.1;FOLH1,splice_region_variant,p.Gly157=,ENST00000533034,NM_001193472.1;FOLH1,splice_region_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000526226,;FOLH1,upstream_gene_variant,,ENST00000458311,; A ENSG00000086205 ENST00000256999 Transcript splice_region_variant,synonymous_variant 777/2635 516/2253 172/750 G ggC/ggT rs79155991,COSM5050864 1 -1 FOLH1 HGNC HGNC:3788 protein_coding YES CCDS7946.1 ENSP00000256999 Q04609 UPI0000000A01 NM_004476.1,NM_001193473.1 5/19 Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36,Superfamily_domains:SSF52025,cd02121 0.01567 0.005351 benign 0,1 LOW 1 SNV 1 0,1 PASS CGC . . 0.003783 0.01679 0.002774 0.002618 0.0004347 0.004932 0.002839 0.005187 0.002445 49186767 AP002512.3 . GRCh38 chr11 56466255 56466255 + Splice_Region DEL A A - rs1297956969 7316-89 BS_579DARY4 A A c.145-7del ENST00000641310 40 23 7 29 23 0 AP002512.3,splice_region_variant,,ENST00000641310,;AP002512.3,intron_variant,,ENST00000641599,;OR5M9,upstream_gene_variant,,ENST00000279791,NM_001004743.1;OR5M3,downstream_gene_variant,,ENST00000312240,NM_001004742.2;OR5M3,downstream_gene_variant,,ENST00000641993,; - ENSG00000284732 ENST00000641310 Transcript splice_region_variant,intron_variant rs1297956969 1 -1 AP002512.3 Clone_based_ensembl_gene protein_coding YES ENSP00000493052 A0A286YEX6 UPI000BAD59D0 2/3 LOW 1 deletion PASS AGAA . . 56466254 SCN8A . GRCh38 chr12 51745899 51745899 + Splice_Region SNP A A T rs765240974 7316-89 BS_579DARY4 A A c.1999-4A>T ENST00000354534 72 63 5 48 47 0 SCN8A,splice_region_variant,,ENST00000354534,NM_014191.3,NM_001330260.1;SCN8A,splice_region_variant,,ENST00000355133,;SCN8A,splice_region_variant,,ENST00000545061,NM_001177984.2;SCN8A,splice_region_variant,,ENST00000551216,;SCN8A,splice_region_variant,,ENST00000599343,;SCN8A,splice_region_variant,,ENST00000627620,;SCN8A,splice_region_variant,,ENST00000550891,;SCN8A,upstream_gene_variant,,ENST00000636945,; T ENSG00000196876 ENST00000354534 Transcript splice_region_variant,intron_variant rs765240974,COSM2009764,COSM2009763 1 1 SCN8A HGNC HGNC:10596 protein_coding YES CCDS44891.1 ENSP00000346534 Q9UQD0 UPI000006FD85 NM_014191.3,NM_001330260.1 12/26 likely_benign 0,1,1 LOW 1 SNV 1 1,1,1 1 PASS TAA . . 0.002358 0.002831 0.003297 0.001783 0.003051 0.001242 0.001893 0.005051 0.00359 51745899 KIF26A . GRCh38 chr14 104177570 104177570 + Missense_Mutation SNP C C A novel 7316-89 BS_579DARY4 C C c.4782C>A p.Ser1594Arg p.S1594R ENST00000423312 12/15 88 73 13 46 46 0 KIF26A,missense_variant,p.Ser1455Arg,ENST00000315264,;KIF26A,missense_variant,p.Ser1594Arg,ENST00000423312,NM_015656.1;,regulatory_region_variant,,ENSR00000073664,; A ENSG00000066735 ENST00000423312 Transcript missense_variant 4782/5649 4782/5649 1594/1882 S/R agC/agA 1 1 KIF26A HGNC HGNC:20226 protein_coding YES CCDS45171.1 ENSP00000388241 Q9ULI4 UPI00006C145D NM_015656.1 tolerated(0.23) possibly_damaging(0.549) 12/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24115:SF407,hmmpanther:PTHR24115 MODERATE 1 SNV 5 PASS GCG . . 104177570 SRRM5 . GRCh38 chr19 43613584 43613584 + Missense_Mutation SNP T T C rs1190514272 7316-89 BS_579DARY4 T T c.1463T>C p.Leu488Pro p.L488P ENST00000607544 3/3 55 44 9 43 39 2 SRRM5,missense_variant,p.Leu488Pro,ENST00000607544,;SRRM5,missense_variant,p.Leu488Pro,ENST00000417606,NM_001145641.1;ZNF428,intron_variant,,ENST00000300811,NM_182498.3;ZNF428,intron_variant,,ENST00000598676,;ZNF428,downstream_gene_variant,,ENST00000595304,; C ENSG00000226763 ENST00000607544 Transcript missense_variant 1785/2698 1463/2148 488/715 L/P cTt/cCt rs1190514272 1 1 SRRM5 HGNC HGNC:37248 protein_coding YES CCDS46095.1 ENSP00000476253 B3KS81 UPI000059D73E tolerated(0.23) benign(0.003) 3/3 hmmpanther:PTHR39414,mobidb-lite MODERATE SNV 2 PASS CTT . . 43613584 RPL3 . GRCh38 chr22 39317633 39317634 + Splice_Region INS - - A rs201453499 7316-89 BS_579DARY4 - - c.197-5dup ENST00000216146 72 61 5 30 29 0 RPL3,splice_region_variant,,ENST00000216146,NM_001033853.1,NM_000967.3;RPL3,splice_region_variant,,ENST00000401609,;RPL3,splice_region_variant,,ENST00000402527,;RPL3,splice_region_variant,,ENST00000427905,;RPL3,splice_region_variant,,ENST00000453303,;SNORD83B,upstream_gene_variant,,ENST00000386745,;SNORD83A,upstream_gene_variant,,ENST00000386747,;SNORD43,downstream_gene_variant,,ENST00000583861,;RPL3,splice_region_variant,,ENST00000465618,;RPL3,downstream_gene_variant,,ENST00000459859,;RPL3,upstream_gene_variant,,ENST00000471290,;RPL3,splice_region_variant,,ENST00000420536,;RPL3,splice_region_variant,,ENST00000460589,;RPL3,splice_region_variant,,ENST00000484615,;RPL3,downstream_gene_variant,,ENST00000461967,;RPL3,upstream_gene_variant,,ENST00000464182,;RPL3,upstream_gene_variant,,ENST00000467105,;RPL3,upstream_gene_variant,,ENST00000473638,;RPL3,upstream_gene_variant,,ENST00000481985,;RPL3,upstream_gene_variant,,ENST00000484358,;RPL3,downstream_gene_variant,,ENST00000498462,; A ENSG00000100316 ENST00000216146 Transcript splice_region_variant,intron_variant rs201453499 1 -1 RPL3 HGNC HGNC:10332 protein_coding YES CCDS13988.1 ENSP00000346001 P39023 UPI0000167B7E NM_001033853.1,NM_000967.3 2/9 0.0008 0.0086 0.002 0.001 LOW 1 insertion 1 PASS GCA . . 0.0006967 0.0001483 0.001105 0.0002843 0.002292 0.0001508 0.0004312 0.0007208 0.001299 39317633 STS . GRCh38 chrX 7275947 7275947 + Splice_Region DEL G G - rs1381919533 7316-89 BS_579DARY4 G G c.822-4del ENST00000217961 34 22 7 11 9 0 STS,splice_region_variant,,ENST00000217961,NM_001320754.1,NM_001320753.1,NM_000351.5,NM_001320752.1,NM_001320751.1,NM_001320750.1; - ENSG00000101846 ENST00000217961 Transcript splice_region_variant,intron_variant rs1381919533 1 1 STS HGNC HGNC:11425 protein_coding YES CCDS14127.1 ENSP00000217961 P08842 UPI0000136153 NM_001320754.1,NM_001320753.1,NM_000351.5,NM_001320752.1,NM_001320751.1,NM_001320750.1 5/9 LOW 1 deletion 1 1 PASS TTGC . . 0.0004447 0.0009916 0.0009058 0.00111 0.0002231 0.0007321 7.649e-05 7275946 ATP11C . GRCh38 chrX 139757870 139757871 + Splice_Region INS - - A rs758541356 7316-89 BS_579DARY4 - - c.2650-4dup ENST00000327569 56 40 8 20 17 0 ATP11C,splice_region_variant,,ENST00000327569,NM_173694.4;ATP11C,splice_region_variant,,ENST00000361648,NM_001010986.2;ATP11C,splice_region_variant,,ENST00000370557,;ATP11C,splice_region_variant,,ENST00000460773,;ATP11C,splice_region_variant,,ENST00000471746,; A ENSG00000101974 ENST00000327569 Transcript splice_region_variant,intron_variant rs758541356,TMP_ESP_X_138840030_138840030 1 -1 ATP11C HGNC HGNC:13554 protein_coding YES CCDS14668.1 ENSP00000332756 Q8NB49 UPI000036777E NM_173694.4 22/29 0.03181 0.037 LOW 1 insertion 1 PASS TGA . . 0.02126 0.01992 0.04706 0.02498 0.01765 0.006629 0.01771 0.01996 0.02687 139757870 MT-CO2 . GRCh38 chrM 7887 7887 + Missense_Mutation SNP G G A novel 7316-89 BS_579DARY4 G G c.302G>A p.Gly101Asp p.G101D ENST00000361739 1/1 25100 19221 5224 2979 2915 3 MT-CO2,missense_variant,p.Gly101Asp,ENST00000361739,;MT-ND3,upstream_gene_variant,,ENST00000361227,;MT-ND4L,upstream_gene_variant,,ENST00000361335,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND1,downstream_gene_variant,,ENST00000361390,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-CO3,upstream_gene_variant,,ENST00000362079,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,downstream_gene_variant,,ENST00000387365,;MT-TQ,upstream_gene_variant,,ENST00000387372,;MT-TM,downstream_gene_variant,,ENST00000387377,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-TG,upstream_gene_variant,,ENST00000387429,;MT-TR,upstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,; A ENSG00000198712 ENST00000361739 Transcript missense_variant 302/684 302/684 101/227 G/D gGc/gAc 1 1 MT-CO2 HGNC HGNC:7421 protein_coding YES ENSP00000354876 P00403 U5Z487 UPI0000000AA4 deleterious_low_confidence(0) probably_damaging(1) 1/1 PROSITE_profiles:PS50857,cd13912,hmmpanther:PTHR22888:SF9,hmmpanther:PTHR22888,Gene3D:2.60.40.420,Pfam_domain:PF00116,TIGRFAM_domain:TIGR02866,Superfamily_domains:SSF49503,Prints_domain:PR01166 MODERATE 1 SNV 1 PASS GGC . . 7887 ARID1A . GRCh38 chr1 26771327 26771327 + Splice_Site SNP G G T 7316-2146 BS_RB3PE7G3 G G c.3406+1G>T p.X1136_splice ENST00000324856 69 46 23 40 39 1 ARID1A,splice_donor_variant,,ENST00000615191,;ARID1A,splice_donor_variant,,ENST00000324856,NM_006015.4;ARID1A,splice_donor_variant,,ENST00000374152,;ARID1A,splice_donor_variant,,ENST00000430799,;ARID1A,splice_donor_variant,,ENST00000457599,NM_139135.2;ARID1A,splice_donor_variant,,ENST00000636219,;ARID1A,upstream_gene_variant,,ENST00000636794,;ARID1A,non_coding_transcript_exon_variant,,ENST00000636110,;ARID1A,downstream_gene_variant,,ENST00000430291,;ARID1A,upstream_gene_variant,,ENST00000466382,;ARID1A,upstream_gene_variant,,ENST00000532781,;ARID1A,upstream_gene_variant,,ENST00000636072,;,regulatory_region_variant,,ENSR00000003603,; T ENSG00000117713 ENST00000324856 Transcript splice_donor_variant COSM6906081 1 1 ARID1A HGNC HGNC:11110 protein_coding YES CCDS285.1 ENSP00000320485 O14497 UPI0000167B91 NM_006015.4 12/19 1 HIGH 1 SNV 1 1 1 PASS GGT . . 26771327 MACF1 . GRCh38 chr1 39284430 39284430 + Splice_Site SNP T T C novel 7316-2146 BS_RB3PE7G3 T T c.1146+2T>C p.X382_splice ENST00000361689 70 41 28 49 49 0 MACF1,splice_donor_variant,,ENST00000361689,NM_012090.5;MACF1,splice_donor_variant,,ENST00000372915,;MACF1,splice_donor_variant,,ENST00000524432,;MACF1,splice_donor_variant,,ENST00000530262,;MACF1,splice_donor_variant,,ENST00000564288,;MACF1,splice_donor_variant,,ENST00000567887,;MACF1,splice_donor_variant,,ENST00000472385,;MACF1,splice_donor_variant,,ENST00000496804,;MACF1,upstream_gene_variant,,ENST00000484393,;MACF1,downstream_gene_variant,,ENST00000485063,; C ENSG00000127603 ENST00000361689 Transcript splice_donor_variant 1 1 MACF1 HGNC HGNC:13664 protein_coding YES CCDS435.1 ENSP00000354573 Q9UPN3 UPI00001B3DC6 NM_012090.5 10/92 HIGH 1 SNV 5 PASS GTA . . 39284430 APOB . GRCh38 chr2 21006413 21006413 + Missense_Mutation SNP G G T novel 7316-2146 BS_RB3PE7G3 G G c.10455C>A p.Ser3485Arg p.S3485R ENST00000233242 26/29 75 70 5 37 37 0 APOB,missense_variant,p.Ser3485Arg,ENST00000233242,NM_000384.2; T ENSG00000084674 ENST00000233242 Transcript missense_variant 10583/14121 10455/13692 3485/4563 S/R agC/agA 1 -1 APOB HGNC HGNC:603 protein_coding YES CCDS1703.1 ENSP00000233242 P04114 UPI0004620B75 NM_000384.2 deleterious(0.01) probably_damaging(0.976) 26/29 hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1 MODERATE 1 SNV 1 1 PASS GGC . . 21006413 ADCY3 . GRCh38 chr2 24834503 24834503 + Missense_Mutation SNP T T C novel 7316-2146 BS_RB3PE7G3 T T c.1949A>G p.Glu650Gly p.E650G ENST00000405392 10/21 68 39 24 37 33 0 ADCY3,missense_variant,p.Glu650Gly,ENST00000260600,NM_004036.4;ADCY3,missense_variant,p.Glu650Gly,ENST00000405392,NM_001320613.1;ADCY3,missense_variant,p.Glu343Gly,ENST00000606682,;ADCY3,downstream_gene_variant,,ENST00000427849,;ADCY3,downstream_gene_variant,,ENST00000435135,;ADCY3,upstream_gene_variant,,ENST00000455323,;ADCY3,upstream_gene_variant,,ENST00000450524,;ADCY3,downstream_gene_variant,,ENST00000454027,; C ENSG00000138031 ENST00000405392 Transcript missense_variant 2148/4397 1949/3438 650/1145 E/G gAg/gGg 1 -1 ADCY3 HGNC HGNC:234 protein_coding YES CCDS82424.1 ENSP00000384484 A0A0A0MSC1 UPI000387D86B NM_001320613.1 deleterious(0.02) benign(0.258) 10/21 PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF291,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CTC . . 24834503 CAMKMT . GRCh38 chr2 44704275 44704275 + Splice_Region SNP T T C novel 7316-2146 BS_RB3PE7G3 T T c.377-8T>C ENST00000378494 81 52 28 35 35 0 CAMKMT,splice_region_variant,,ENST00000378494,NM_024766.4;CAMKMT,upstream_gene_variant,,ENST00000613618,;CAMKMT,splice_region_variant,,ENST00000477830,; C ENSG00000143919 ENST00000378494 Transcript splice_region_variant,intron_variant 1 1 CAMKMT HGNC HGNC:26276 protein_coding YES CCDS1820.1 ENSP00000367755 Q7Z624 UPI0000070B33 NM_024766.4 3/10 LOW 1 SNV 1 1 PASS GTT . . 44704275 PROM2 . GRCh38 chr2 95275967 95275967 + Missense_Mutation SNP T T G novel 7316-2146 BS_RB3PE7G3 T T c.332T>G p.Val111Gly p.V111G ENST00000317620 3/24 97 91 6 40 40 0 PROM2,missense_variant,p.Val111Gly,ENST00000317620,NM_001165978.2;PROM2,missense_variant,p.Val111Gly,ENST00000317668,NM_001321070.1,NM_144707.3;PROM2,missense_variant,p.Val111Gly,ENST00000403131,NM_001165977.2;PROM2,non_coding_transcript_exon_variant,,ENST00000477767,;PROM2,intron_variant,,ENST00000463580,;PROM2,upstream_gene_variant,,ENST00000497110,;PROM2,missense_variant,p.Cys131Trp,ENST00000431567,;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;PROM2,upstream_gene_variant,,ENST00000478295,;,regulatory_region_variant,,ENSR00000120127,; G ENSG00000155066 ENST00000317620 Transcript missense_variant 465/4728 332/2505 111/834 V/G gTg/gGg 1 1 PROM2 HGNC HGNC:20685 protein_coding YES CCDS2012.1 ENSP00000318270 Q8N271 UPI0000071157 NM_001165978.2 deleterious(0) possibly_damaging(0.767) 3/24 Transmembrane_helices:TMhelix,hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF05478 MODERATE 1 SNV 1 PASS GTG . . 95275967 CFAP221 . GRCh38 chr2 119560019 119560019 + Missense_Mutation SNP A A G novel 7316-2146 BS_RB3PE7G3 A A c.419A>G p.His140Arg p.H140R ENST00000413369 5/24 54 27 19 34 30 0 CFAP221,missense_variant,p.His140Arg,ENST00000413369,NM_001271049.1;CFAP221,missense_variant,p.His140Arg,ENST00000598644,;CFAP221,missense_variant,p.His130Arg,ENST00000594371,;CFAP221,missense_variant,p.His140Arg,ENST00000442513,;CFAP221,missense_variant,p.His140Arg,ENST00000295220,;CFAP221,3_prime_UTR_variant,,ENST00000413057,;CFAP221,3_prime_UTR_variant,,ENST00000594033,;CFAP221,non_coding_transcript_exon_variant,,ENST00000488358,;CFAP221,downstream_gene_variant,,ENST00000463985,; G ENSG00000163075 ENST00000413369 Transcript missense_variant 506/2801 419/2523 140/840 H/R cAc/cGc 1 1 CFAP221 HGNC HGNC:33720 protein_coding YES CCDS33282.2 ENSP00000393222 Q4G0U5 UPI0001D322F9 NM_001271049.1 deleterious(0) probably_damaging(0.998) 5/24 hmmpanther:PTHR23053:SF30,hmmpanther:PTHR23053,Gene3D:2.60.40.10 MODERATE 1 SNV 5 PASS CAC . . 119560019 SGO2 . GRCh38 chr2 200535173 200535173 + Splice_Site SNP T T C novel 7316-2146 BS_RB3PE7G3 T T c.309+2T>C p.X103_splice ENST00000357799 115 77 38 30 30 0 SGO2,splice_donor_variant,,ENST00000357799,NM_001160046.1,NM_001160033.1,NM_152524.5;SGO2,splice_donor_variant,,ENST00000409203,;SGO2,downstream_gene_variant,,ENST00000418045,;SGO2,splice_donor_variant,,ENST00000469840,;SGO2,downstream_gene_variant,,ENST00000460534,;SGO2,splice_donor_variant,,ENST00000488636,; C ENSG00000163535 ENST00000357799 Transcript splice_donor_variant 1 1 SGO2 HGNC HGNC:30812 protein_coding YES CCDS42796.1 ENSP00000350447 Q562F6 UPI00001AEBF5 NM_001160046.1,NM_001160033.1,NM_152524.5 3/8 HIGH 1 SNV 1 PASS GTA . . 200535173 TMEM108 . GRCh38 chr3 133379998 133379998 + Missense_Mutation SNP C C A novel 7316-2146 BS_RB3PE7G3 C C c.287C>A p.Thr96Asn p.T96N ENST00000321871 4/6 91 65 21 27 27 0 TMEM108,missense_variant,p.Thr96Asn,ENST00000515826,;TMEM108,missense_variant,p.Thr96Asn,ENST00000321871,NM_001136469.2,NM_023943.3;TMEM108,missense_variant,p.Thr96Asn,ENST00000393130,;TMEM108,missense_variant,p.Thr47Asn,ENST00000512662,;TMEM108,missense_variant,p.Thr47Asn,ENST00000514894,;TMEM108,missense_variant,p.Thr96Asn,ENST00000512137,;TMEM108,missense_variant,p.Thr96Asn,ENST00000510183,;TMEM108,intron_variant,,ENST00000508711,NM_001282865.1;TMEM108,downstream_gene_variant,,ENST00000511555,;TMEM108,non_coding_transcript_exon_variant,,ENST00000511388,; A ENSG00000144868 ENST00000321871 Transcript missense_variant 497/3744 287/1728 96/575 T/N aCc/aAc 1 1 TMEM108 HGNC HGNC:28451 protein_coding YES CCDS33858.1 ENSP00000324651 Q6UXF1 UPI000004EE8B NM_001136469.2,NM_023943.3 deleterious_low_confidence(0.01) benign(0.158) 4/6 mobidb-lite,hmmpanther:PTHR28673,Pfam_domain:PF15759 MODERATE 1 SNV 1 PASS ACC . . 133379998 FGFBP2 . GRCh38 chr4 15962867 15962867 + Missense_Mutation SNP G G T novel 7316-2146 BS_RB3PE7G3 G G c.263C>A p.Pro88His p.P88H ENST00000259989 1/2 72 45 26 40 39 0 FGFBP2,missense_variant,p.Pro88His,ENST00000259989,NM_031950.3;FGFBP2,intron_variant,,ENST00000509331,;PROM1,downstream_gene_variant,,ENST00000503884,; T ENSG00000137441 ENST00000259989 Transcript missense_variant 370/1168 263/672 88/223 P/H cCc/cAc 1 -1 FGFBP2 HGNC HGNC:29451 protein_coding YES CCDS3419.1 ENSP00000259989 Q9BYJ0 UPI0000048EE6 NM_031950.3 deleterious(0) probably_damaging(1) 1/2 hmmpanther:PTHR15258,hmmpanther:PTHR15258:SF1,Pfam_domain:PF06473 MODERATE 1 SNV 1 PASS GGG . . 15962867 PJA2 . GRCh38 chr5 109379128 109379128 + Missense_Mutation SNP A A G novel 7316-2146 BS_RB3PE7G3 A A c.359T>C p.Val120Ala p.V120A ENST00000361189 4/10 78 58 19 42 42 0 PJA2,missense_variant,p.Val120Ala,ENST00000361189,NM_014819.4;PJA2,missense_variant,p.Val120Ala,ENST00000361557,;PJA2,downstream_gene_variant,,ENST00000511624,;PJA2,downstream_gene_variant,,ENST00000512822,; G ENSG00000198961 ENST00000361189 Transcript missense_variant 599/4889 359/2127 120/708 V/A gTt/gCt 1 -1 PJA2 HGNC HGNC:17481 protein_coding YES CCDS4099.1 ENSP00000354775 O43164 UPI000013D192 NM_014819.4 tolerated(0.83) benign(0) 4/10 hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF5 MODERATE 1 SNV 1 PASS AAC . . 109379128 COL11A2 . GRCh38 chr6 33176990 33176990 + Splice_Site SNP A A G novel 7316-2146 BS_RB3PE7G3 A A c.1812+2T>C p.X604_splice ENST00000374708 104 87 15 32 31 0 COL11A2,splice_donor_variant,,ENST00000341947,NM_080680.2;COL11A2,splice_donor_variant,,ENST00000361917,NM_080679.2;COL11A2,splice_donor_variant,,ENST00000374708,NM_080681.2;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,intron_variant,,ENST00000477772,; G ENSG00000204248 ENST00000374708 Transcript splice_donor_variant 1 -1 COL11A2 HGNC HGNC:2187 protein_coding YES CCDS43452.1 ENSP00000363840 Q4VXY6 UPI000013E9A5 NM_080681.2 23/63 HIGH 1 SNV 5 1 PASS CAC . . 33176990 OR2A12 . GRCh38 chr7 144095487 144095487 + Missense_Mutation SNP A A G novel 7316-2146 BS_RB3PE7G3 A A c.380A>G p.His127Arg p.H127R ENST00000641592 2/2 82 75 6 37 37 0 OR2A12,missense_variant,p.His127Arg,ENST00000641592,;OR2A12,missense_variant,p.His127Arg,ENST00000408949,NM_001004135.1; G ENSG00000221858 ENST00000641592 Transcript missense_variant 697/4163 380/933 127/310 H/R cAc/cGc 1 1 OR2A12 HGNC HGNC:15082 protein_coding YES CCDS43670.1 ENSP00000493157 Q8NGT7 A4D2G4 UPI0000061E6F deleterious(0.02) benign(0.111) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,Superfamily_domains:SSF81321,cd15420 MODERATE 1 SNV PASS CAC . . 144095487 PLAG1 . GRCh38 chr8 56166525 56166525 + Missense_Mutation SNP G G C novel 7316-2146 BS_RB3PE7G3 G G c.1221C>G p.Ile407Met p.I407M ENST00000316981 5/5 1492 1437 37 47 46 0 PLAG1,missense_variant,p.Ile407Met,ENST00000316981,NM_002655.2;PLAG1,missense_variant,p.Ile407Met,ENST00000429357,NM_001114634.1;PLAG1,missense_variant,p.Ile325Met,ENST00000423799,NM_001114635.1;PLAG1,non_coding_transcript_exon_variant,,ENST00000522009,; C ENSG00000181690 ENST00000316981 Transcript missense_variant 1701/7322 1221/1503 407/500 I/M atC/atG 1 -1 PLAG1 HGNC HGNC:9045 protein_coding YES CCDS6165.1 ENSP00000325546 Q6DJT9 A0A024R7Z0 UPI000013FF2F NM_002655.2 tolerated(0.17) possibly_damaging(0.737) 5/5 hmmpanther:PTHR44197,hmmpanther:PTHR44197:SF2,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS TGA . . 56166525 ADGRB1 . GRCh38 chr8 142464647 142464647 + Missense_Mutation SNP C C T novel 7316-2146 BS_RB3PE7G3 C C c.449C>T p.Pro150Leu p.P150L ENST00000517894 2/31 65 33 30 42 42 0 ADGRB1,missense_variant,p.Pro150Leu,ENST00000517894,;ADGRB1,missense_variant,p.Pro150Leu,ENST00000643448,;ADGRB1,missense_variant,p.Pro150Leu,ENST00000323289,NM_001702.2;ADGRB1,missense_variant,p.Pro150Leu,ENST00000521208,;,regulatory_region_variant,,ENSR00000231957,; T ENSG00000181790 ENST00000517894 Transcript missense_variant 1343/6241 449/4755 150/1584 P/L cCg/cTg 1 1 ADGRB1 HGNC HGNC:943 protein_coding YES CCDS64985.1 ENSP00000430945 O14514 UPI00002109E8 tolerated(0.08) benign(0.361) 2/31 hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,mobidb-lite MODERATE 1 SNV 5 PASS CCG . . 142464647 LRRC8A . GRCh38 chr9 128909256 128909256 + Missense_Mutation SNP A A G novel 7316-2146 BS_RB3PE7G3 A A c.2092A>G p.Thr698Ala p.T698A ENST00000259324 3/4 85 63 22 45 44 0 LRRC8A,missense_variant,p.Thr698Ala,ENST00000259324,NM_001127244.1;LRRC8A,missense_variant,p.Thr698Ala,ENST00000372600,NM_019594.3;LRRC8A,missense_variant,p.Thr698Ala,ENST00000372599,NM_001127245.1;LRRC8A,upstream_gene_variant,,ENST00000492784,; G ENSG00000136802 ENST00000259324 Transcript missense_variant 2615/4619 2092/2433 698/810 T/A Acc/Gcc 1 1 LRRC8A HGNC HGNC:19027 protein_coding YES CCDS35155.1 ENSP00000259324 Q8IWT6 A0A024R892 UPI000004EF9E NM_001127244.1 tolerated(0.44) benign(0.33) 3/4 Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR43945,hmmpanther:PTHR43945:SF2,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 2 1 PASS GAC . . 128909256 INPPL1 . GRCh38 chr11 72230212 72230212 + Missense_Mutation SNP T T C novel 7316-2146 BS_RB3PE7G3 T T c.1031T>C p.Val344Ala p.V344A ENST00000298229 9/28 60 50 8 42 40 0 INPPL1,missense_variant,p.Val344Ala,ENST00000298229,NM_001567.3;INPPL1,missense_variant,p.Val102Ala,ENST00000538751,;INPPL1,missense_variant,p.Val278Ala,ENST00000541756,;INPPL1,missense_variant,p.Val72Ala,ENST00000540329,;INPPL1,downstream_gene_variant,,ENST00000537656,;INPPL1,upstream_gene_variant,,ENST00000535985,;INPPL1,upstream_gene_variant,,ENST00000537755,;INPPL1,upstream_gene_variant,,ENST00000538339,;INPPL1,upstream_gene_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000541544,;INPPL1,upstream_gene_variant,,ENST00000544806,;INPPL1,upstream_gene_variant,,ENST00000545355,; C ENSG00000165458 ENST00000298229 Transcript missense_variant 1235/4733 1031/3777 344/1258 V/A gTg/gCg 1 1 INPPL1 HGNC HGNC:6080 protein_coding YES CCDS8213.1 ENSP00000298229 O15357 UPI000013E4AF NM_001567.3 tolerated(0.21) benign(0.103) 9/28 hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF15 MODERATE 1 SNV 1 1 PASS GTG . . 72230212 GUCY2C . GRCh38 chr12 14674754 14674754 + Nonsense_Mutation SNP G G A rs760164631 7316-2146 BS_RB3PE7G3 G G c.955C>T p.Arg319Ter p.R319* ENST00000261170 8/27 80 44 36 48 47 0 GUCY2C,stop_gained,p.Arg319Ter,ENST00000261170,NM_004963.3;AC010168.1,intron_variant,,ENST00000501178,;GUCY2C,non_coding_transcript_exon_variant,,ENST00000535803,; A ENSG00000070019 ENST00000261170 Transcript stop_gained 1092/3844 955/3222 319/1073 R/* Cga/Tga rs760164631,COSM1209209 1 -1 GUCY2C HGNC HGNC:4688 protein_coding YES CCDS8664.1 ENSP00000261170 P25092 UPI000013D135 NM_004963.3 8/27 cd06369,hmmpanther:PTHR11920:SF347,hmmpanther:PTHR11920,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822 0,1 HIGH 1 SNV 1 0,1 1 PASS CGT . . 2.09e-05 5.935e-05 0.0001354 14674754 FAM186A . GRCh38 chr12 50353360 50353360 + Missense_Mutation SNP A A G rs1446903769 7316-2146 BS_RB3PE7G3 A A c.3472T>C p.Ser1158Pro p.S1158P ENST00000327337 4/8 75 60 8 39 36 0 FAM186A,missense_variant,p.Ser1158Pro,ENST00000543111,;FAM186A,missense_variant,p.Ser1158Pro,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 3472/7127 3472/7056 1158/2351 S/P Tct/Cct rs1446903769 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.07) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 MODERATE 1 SNV 5 PASS GAG . . 50353360 CEP290 . GRCh38 chr12 88114568 88114568 + Splice_Region SNP A A G novel 7316-2146 BS_RB3PE7G3 A A c.1910-6T>C ENST00000552810 61 37 23 39 39 0 CEP290,splice_region_variant,,ENST00000397838,;CEP290,splice_region_variant,,ENST00000309041,;CEP290,splice_region_variant,,ENST00000552810,NM_025114.3;CEP290,splice_region_variant,,ENST00000604024,;CEP290,intron_variant,,ENST00000547926,; G ENSG00000198707 ENST00000552810 Transcript splice_region_variant,intron_variant 1 -1 CEP290 HGNC HGNC:29021 protein_coding YES CCDS55858.1 ENSP00000448012 O15078 UPI0000D60D15 NM_025114.3 19/53 LOW 1 SNV 1 1 PASS AAT . . 88114568 DNAL1 . GRCh38 chr14 73654843 73654843 + Splice_Region SNP A A T rs576147534 7316-2146 BS_RB3PE7G3 A A c.4-4A>T ENST00000553645 73 62 7 46 44 0 DNAL1,splice_region_variant,,ENST00000311089,;DNAL1,splice_region_variant,,ENST00000553645,NM_031427.3;DNAL1,splice_region_variant,,ENST00000554871,NM_001201366.1;DNAL1,splice_region_variant,,ENST00000555631,;DNAL1,splice_region_variant,,ENST00000555919,;DNAL1,intron_variant,,ENST00000554113,;DNAL1,intron_variant,,ENST00000554339,;DNAL1,upstream_gene_variant,,ENST00000559993,;RNU6-240P,downstream_gene_variant,,ENST00000516098,;DNAL1,upstream_gene_variant,,ENST00000554159,; T ENSG00000119661 ENST00000553645 Transcript splice_region_variant,intron_variant rs576147534,COSM6233568,COSM6233567 1 1 DNAL1 HGNC HGNC:23247 protein_coding YES CCDS45134.1 ENSP00000452037 Q4LDG9 UPI000004470E NM_031427.3 1/7 0.0020 0.0045 0.0014 0.001 0.002 likely_benign 0,1,1 LOW 1 SNV 1 1,1,1 1 PASS TAA . . 0.003801 0.00312 0.009808 0.001642 0.00651 0.002938 0.002673 0.003356 0.003357 73654843 CHD2 . GRCh38 chr15 92953466 92953466 + Missense_Mutation SNP A A C novel 7316-2146 BS_RB3PE7G3 A A c.1612A>C p.Ile538Leu p.I538L ENST00000394196 14/39 116 110 5 38 37 0 CHD2,missense_variant,p.Ile538Leu,ENST00000394196,NM_001271.3;CHD2,missense_variant,p.Ile538Leu,ENST00000626874,;CHD2,downstream_gene_variant,,ENST00000420239,NM_001042572.2;CHD2,downstream_gene_variant,,ENST00000626782,;CHD2,downstream_gene_variant,,ENST00000637613,;CHD2,non_coding_transcript_exon_variant,,ENST00000635856,;CHD2,non_coding_transcript_exon_variant,,ENST00000628181,;CHD2,upstream_gene_variant,,ENST00000627200,;CHD2,missense_variant,p.Ile329Leu,ENST00000636881,;CHD2,non_coding_transcript_exon_variant,,ENST00000637572,;CHD2,downstream_gene_variant,,ENST00000630016,;AC013394.1,downstream_gene_variant,,ENST00000630790,; C ENSG00000173575 ENST00000394196 Transcript missense_variant 2188/9363 1612/5487 538/1828 I/L Ata/Cta 1 1 CHD2 HGNC HGNC:1917 protein_coding YES CCDS10374.2 ENSP00000377747 O14647 UPI0000E8A85C NM_001271.3 tolerated(1) benign(0.007) 14/39 PROSITE_profiles:PS51192,cd00046,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,Gene3D:3.40.50.10810,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540 MODERATE 1 SNV 5 1 PASS TAT . . 92953466 ASB7 . GRCh38 chr15 100629467 100629467 + Missense_Mutation SNP G G A novel 7316-2146 BS_RB3PE7G3 G G c.242G>A p.Gly81Asp p.G81D ENST00000332783 5/6 99 71 28 50 50 0 ASB7,missense_variant,p.Gly81Asp,ENST00000332783,NM_198243.2;ASB7,missense_variant,p.Gly81Asp,ENST00000343276,NM_024708.3;ASB7,intron_variant,,ENST00000558747,;,regulatory_region_variant,,ENSR00000081918,; A ENSG00000183475 ENST00000332783 Transcript missense_variant 1027/4985 242/957 81/318 G/D gGc/gAc 1 1 ASB7 HGNC HGNC:17182 protein_coding YES CCDS10387.1 ENSP00000328327 Q9H672 A0A024RC94 UPI00001B3F4D NM_198243.2 deleterious(0.04) probably_damaging(0.989) 5/6 Gene3D:1.25.40.20,Pfam_domain:PF12796,Prints_domain:PR01415,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR44466,SMART_domains:SM00248,Superfamily_domains:SSF48403,cd00204 MODERATE 1 SNV 1 PASS GGC . . 100629467 SLFN11 . GRCh38 chr17 35353108 35353108 + Missense_Mutation SNP T T C rs143643982 7316-2146 BS_RB3PE7G3 T T c.1954A>G p.Lys652Glu p.K652E ENST00000394566 7/7 73 57 14 37 36 0 SLFN11,missense_variant,p.Lys652Glu,ENST00000394566,NM_001104588.1,NM_001104587.1,NM_001104590.1;SLFN11,missense_variant,p.Lys652Glu,ENST00000308377,NM_001104589.1,NM_152270.3;SLFN11,missense_variant,p.Lys9Glu,ENST00000592108,; C ENSG00000172716 ENST00000394566 Transcript missense_variant 2227/5030 1954/2706 652/901 K/E Aaa/Gaa rs143643982 1 -1 SLFN11 HGNC HGNC:26633 protein_coding YES CCDS11294.1 ENSP00000378067 Q7Z7L1 UPI0000140B0E NM_001104588.1,NM_001104587.1,NM_001104590.1 deleterious(0.01) benign(0.06) 7/7 hmmpanther:PTHR12155:SF31,hmmpanther:PTHR12155,Gene3D:3.40.50.300,Pfam_domain:PF09848,Superfamily_domains:SSF52540 0.0002 0.001 0.0006977 MODERATE 1 SNV 2 PASS TTC . . 0.0001911 0.0002618 2.979e-05 0.0003594 0.0002421 0.0001825 0.000195 35353108 GRN . GRCh38 chr17 44351707 44351707 + Missense_Mutation SNP T T C novel 7316-2146 BS_RB3PE7G3 T T c.1091T>C p.Val364Ala p.V364A ENST00000053867 10/13 115 76 33 42 42 0 GRN,missense_variant,p.Val364Ala,ENST00000053867,NM_002087.3;GRN,missense_variant,p.Val207Ala,ENST00000589265,;GRN,missense_variant,p.Val178Ala,ENST00000586443,;GRN,missense_variant,p.Val364Ala,ENST00000639447,;FAM171A2,downstream_gene_variant,,ENST00000293443,NM_198475.2;GRN,downstream_gene_variant,,ENST00000585512,;GRN,upstream_gene_variant,,ENST00000586242,;GRN,downstream_gene_variant,,ENST00000587109,;GRN,downstream_gene_variant,,ENST00000587387,;GRN,downstream_gene_variant,,ENST00000587518,;GRN,downstream_gene_variant,,ENST00000588143,;GRN,downstream_gene_variant,,ENST00000588237,;GRN,downstream_gene_variant,,ENST00000589536,;GRN,downstream_gene_variant,,ENST00000591740,;GRN,downstream_gene_variant,,ENST00000592783,;GRN,downstream_gene_variant,,ENST00000593167,;GRN,non_coding_transcript_exon_variant,,ENST00000589923,;GRN,downstream_gene_variant,,ENST00000585348,;GRN,downstream_gene_variant,,ENST00000586782,;GRN,downstream_gene_variant,,ENST00000587958,;FAM171A2,downstream_gene_variant,,ENST00000588067,;GRN,downstream_gene_variant,,ENST00000588170,;FAM171A2,downstream_gene_variant,,ENST00000589407,;GRN,downstream_gene_variant,,ENST00000590984,;GRN,downstream_gene_variant,,ENST00000592323,;,regulatory_region_variant,,ENSR00000094758,; C ENSG00000030582 ENST00000053867 Transcript missense_variant 1347/2342 1091/1782 364/593 V/A gTc/gCc 1 1 GRN HGNC HGNC:4601 protein_coding YES CCDS11483.1 ENSP00000053867 P28799 UPI00000015E0 NM_002087.3 deleterious(0) possibly_damaging(0.624) 10/13 hmmpanther:PTHR12274,Superfamily_domains:SSF57277 MODERATE 1 SNV 1 1 PASS GTC . . 44351707 CSHL1 . GRCh38 chr17 63910441 63910441 + Missense_Mutation SNP C C T 7316-2146 BS_RB3PE7G3 C C c.285G>A p.Met95Ile p.M95I ENST00000309894 3/5 112 103 9 38 38 0 CSHL1,start_lost,p.Met1?,ENST00000450719,;CSHL1,start_lost,p.Met1?,ENST00000346606,NM_001318.3;CSHL1,missense_variant,p.Met12Ile,ENST00000561003,;CSHL1,missense_variant,p.Met90Ile,ENST00000392824,;CSHL1,missense_variant,p.Met33Ile,ENST00000259003,NM_001321069.1,NM_001321068.1;CSHL1,missense_variant,p.Met95Ile,ENST00000309894,NM_022579.2,NM_022581.2;CSHL1,missense_variant,p.Met12Ile,ENST00000438387,NM_022580.2,NM_001321067.1;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558609,; T ENSG00000204414 ENST00000309894 Transcript missense_variant 285/669 285/669 95/222 M/I atG/atA COSM707679,COSM707678,COSM4861621 1 -1 CSHL1 HGNC HGNC:2442 protein_coding YES CCDS11652.1 ENSP00000309524 Q14406 UPI00001602B9 NM_022579.2,NM_022581.2 deleterious(0) benign(0.158) 3/5 Gene3D:1.20.1250.10,Pfam_domain:PF00103,Prints_domain:PR00836,hmmpanther:PTHR11417,hmmpanther:PTHR11417:SF66,Superfamily_domains:SSF47266,cd10285 1,1,1 MODERATE 1 SNV 5 1,1,1 PASS CCA . . 63910441 BPTF . GRCh38 chr17 67945666 67945666 + Missense_Mutation SNP T T C novel 7316-2146 BS_RB3PE7G3 T T c.6958T>C p.Ser2320Pro p.S2320P ENST00000306378 21/28 96 77 19 30 30 0 BPTF,missense_variant,p.Ser2446Pro,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Ser2307Pro,ENST00000644067,;BPTF,missense_variant,p.Ser2307Pro,ENST00000342579,;BPTF,missense_variant,p.Ser2320Pro,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Ser2307Pro,ENST00000424123,;BPTF,missense_variant,p.Ser2383Pro,ENST00000544778,;BPTF,missense_variant,p.Ser193Pro,ENST00000580465,;BPTF,upstream_gene_variant,,ENST00000581258,;BPTF,downstream_gene_variant,,ENST00000577770,;BPTF,downstream_gene_variant,,ENST00000582406,;BPTF,downstream_gene_variant,,ENST00000584931,; C ENSG00000171634 ENST00000306378 Transcript missense_variant 7018/9688 6958/8763 2320/2920 S/P Tca/Cca 1 1 BPTF HGNC HGNC:3581 protein_coding YES CCDS11673.1 ENSP00000307208 Q12830 UPI00002263BF NM_182641.3 tolerated_low_confidence(0.08) benign(0.001) 21/28 mobidb-lite,hmmpanther:PTHR22880:SF137,hmmpanther:PTHR22880 MODERATE 1 SNV 1 1 PASS GTC . . 67945666 CBX4 . GRCh38 chr17 79834357 79834357 + Missense_Mutation SNP T T C novel 7316-2146 BS_RB3PE7G3 T T c.1285A>G p.Thr429Ala p.T429A ENST00000269397 5/5 86 66 15 36 34 0 CBX4,missense_variant,p.Thr429Ala,ENST00000269397,NM_003655.2;CBX4,downstream_gene_variant,,ENST00000448310,;CBX4,downstream_gene_variant,,ENST00000495122,;CBX4,downstream_gene_variant,,ENST00000494546,; C ENSG00000141582 ENST00000269397 Transcript missense_variant 1463/2664 1285/1683 429/560 T/A Act/Gct 1 -1 CBX4 HGNC HGNC:1554 protein_coding YES CCDS32758.1 ENSP00000269397 O00257 A0A0S2Z5B2 UPI000013D82E NM_003655.2 tolerated(0.14) possibly_damaging(0.638) 5/5 Gene3D:3.40.50.1980,hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF10 MODERATE 1 SNV 1 PASS GTC . . 79834357 OR10H1 . GRCh38 chr19 15807512 15807512 + Missense_Mutation SNP G G A rs1014372039 7316-2146 BS_RB3PE7G3 G G c.526C>T p.His176Tyr p.H176Y ENST00000641419 4/4 75 48 27 42 41 0 OR10H1,missense_variant,p.His176Tyr,ENST00000641419,;OR10H1,missense_variant,p.His176Tyr,ENST00000334920,NM_013940.2; A ENSG00000186723 ENST00000641419 Transcript missense_variant 1413/4376 526/957 176/318 H/Y Cat/Tat rs1014372039 1 -1 OR10H1 HGNC HGNC:8172 protein_coding YES CCDS12335.1 ENSP00000493436 Q9Y4A9 A0A126GVU5 UPI000004CA3D deleterious(0.02) benign(0.17) 4/4 PROSITE_profiles:PS50262,cd15225,hmmpanther:PTHR24247:SF175,hmmpanther:PTHR24247,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245 MODERATE 1 SNV PASS TGG . . 4.061e-06 0.0001015 15807512 SBSN . GRCh38 chr19 35527759 35527759 + Missense_Mutation SNP G G C rs879084084 7316-2146 BS_RB3PE7G3 G G c.523C>G p.His175Asp p.H175D ENST00000452271 1/4 55 47 7 29 29 0 SBSN,missense_variant,p.His175Asp,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; C ENSG00000189001 ENST00000452271 Transcript missense_variant 552/1945 523/1773 175/590 H/D Cac/Gac rs879084084 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 deleterious(0.01) probably_damaging(0.983) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TGG . . 35527759 HNRNPL . GRCh38 chr19 38840359 38840359 + Missense_Mutation SNP A A G novel 7316-2146 BS_RB3PE7G3 A A c.970T>C p.Tyr324His p.Y324H ENST00000221419 8/13 55 43 9 37 35 0 HNRNPL,missense_variant,p.Tyr324His,ENST00000221419,NM_001533.2;HNRNPL,missense_variant,p.Tyr265His,ENST00000601449,;HNRNPL,missense_variant,p.Tyr191His,ENST00000600873,NM_001005335.1;AC008982.1,upstream_gene_variant,,ENST00000594769,;HNRNPL,downstream_gene_variant,,ENST00000600233,;HNRNPL,downstream_gene_variant,,ENST00000601813,;AC008982.1,upstream_gene_variant,,ENST00000602021,;AC008982.2,downstream_gene_variant,,ENST00000600473,;HNRNPL,3_prime_UTR_variant,,ENST00000388749,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000597731,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000595164,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000598985,;HNRNPL,upstream_gene_variant,,ENST00000595443,;HNRNPL,upstream_gene_variant,,ENST00000595804,;HNRNPL,downstream_gene_variant,,ENST00000601047,;HNRNPL,upstream_gene_variant,,ENST00000601664,; G ENSG00000104824 ENST00000221419 Transcript missense_variant 1337/2471 970/1770 324/589 Y/H Tac/Cac 1 -1 HNRNPL HGNC HGNC:5045 protein_coding YES CCDS33015.1 ENSP00000221419 P14866 UPI00004432FA NM_001533.2 tolerated(0.1) probably_damaging(0.987) 8/13 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44018:SF4,hmmpanther:PTHR44018,TIGRFAM_domain:TIGR01649 MODERATE 1 SNV 1 PASS TAC . . 38840359 FBL . GRCh38 chr19 39840326 39840326 + Splice_Region SNP A A G novel 7316-2146 BS_RB3PE7G3 A A c.285T>C p.Gly95= p.G95= ENST00000221801 4/9 63 40 22 25 24 1 FBL,splice_region_variant,p.Gly95=,ENST00000221801,NM_001436.3;FBL,splice_region_variant,p.Gly10=,ENST00000595545,;FBL,splice_region_variant,p.Gly71=,ENST00000601274,;FBL,splice_region_variant,p.Gly33=,ENST00000597224,;FBL,splice_region_variant,p.Gly58=,ENST00000597634,;FBL,splice_region_variant,p.Gly94=,ENST00000594309,;FBL,splice_region_variant,p.Gly82=,ENST00000598417,;FBL,splice_region_variant,p.Gly82=,ENST00000599134,;FBL,upstream_gene_variant,,ENST00000593503,;FBL,splice_region_variant,,ENST00000599159,;FBL,intron_variant,,ENST00000594443,; G ENSG00000105202 ENST00000221801 Transcript splice_region_variant,synonymous_variant 399/1160 285/966 95/321 G ggT/ggC 1 -1 FBL HGNC HGNC:3599 protein_coding YES CCDS12545.1 ENSP00000221801 P22087 UPI000012A578 NM_001436.3 4/9 PDB-ENSP_mappings:2ipx.A,hmmpanther:PTHR10335,hmmpanther:PTHR10335:SF4,Pfam_domain:PF01269,Gene3D:3.30.200.20,PIRSF_domain:PIRSF006540,SMART_domains:SM01206,Superfamily_domains:SSF53335 LOW 1 SNV 1 PASS CAC . . 39840326 SLC9A8 . GRCh38 chr20 49850764 49850764 + Frame_Shift_Del DEL T T - rs564652819 7316-2146 BS_RB3PE7G3 T T c.546del p.Phe182LeufsTer16 p.F182Lfs*16 ENST00000417961 7/16 85 74 7 46 43 0 SLC9A8,frameshift_variant,p.Phe182LeufsTer16,ENST00000417961,NM_001260491.1;SLC9A8,intron_variant,,ENST00000361573,NM_015266.2; - ENSG00000197818 ENST00000417961 Transcript frameshift_variant,splice_region_variant 747/6309 537/1794 179/597 G/X ggT/gg rs564652819,TMP_ESP_20_48467301_48467301,COSM1615719 1 1 SLC9A8 HGNC HGNC:20728 protein_coding YES CCDS58774.1 ENSP00000416418 Q9Y2E8 UPI00017A7E08 NM_001260491.1 7/16 Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF88,hmmpanther:PTHR10110,Pfam_domain:PF00999,TIGRFAM_domain:TIGR00840 0.03963 0.0361 0,0,1 HIGH 1 deletion 2 9 0,0,1 PASS GGTT . . 0.008126 0.005849 0.0121 0.008828 0.008553 0.004731 0.007844 0.007428 0.009422 49850763 CCDC22 . GRCh38 chrX 49235682 49235682 + Missense_Mutation SNP G G A novel 7316-2146 BS_RB3PE7G3 G G c.46G>A p.Gly16Ser p.G16S ENST00000376227 1/17 63 41 21 17 17 0 CCDC22,missense_variant,p.Gly16Ser,ENST00000376227,NM_014008.4;CACNA1F,upstream_gene_variant,,ENST00000323022,NM_001256789.2;CACNA1F,upstream_gene_variant,,ENST00000376251,NM_001256790.2;CACNA1F,upstream_gene_variant,,ENST00000376265,NM_005183.3;CCDC22,non_coding_transcript_exon_variant,,ENST00000496651,;CCDC22,upstream_gene_variant,,ENST00000490300,;,regulatory_region_variant,,ENSR00000246566,;HSPB1P2,upstream_gene_variant,,ENST00000448722,; A ENSG00000101997 ENST00000376227 Transcript missense_variant 216/2319 46/1884 16/627 G/S Ggc/Agc 1 1 CCDC22 HGNC HGNC:28909 protein_coding YES CCDS14322.1 ENSP00000365401 O60826 A0A024QZ03 UPI000006FFC7 NM_014008.4 deleterious(0) probably_damaging(1) 1/17 hmmpanther:PTHR15668,Pfam_domain:PF05667 MODERATE 1 SNV 1 1 PASS CGG . . 49235682 TNFRSF25 . GRCh38 chr1 6461666 6461666 + Missense_Mutation SNP G G A 7316-2594 BS_SGS26NXP G G c.1049C>T p.Ala350Val p.A350V ENST00000377782 10/10 72 31 36 46 46 0 TNFRSF25,missense_variant,p.Ala350Val,ENST00000377782,NM_148965.1;TNFRSF25,missense_variant,p.Ala341Val,ENST00000356876,NM_003790.2;TNFRSF25,missense_variant,p.Ala304Val,ENST00000351959,NM_148966.1;TNFRSF25,missense_variant,p.Ala296Val,ENST00000348333,NM_148967.1;TNFRSF25,missense_variant,p.Ala158Val,ENST00000351748,NM_148970.1;PLEKHG5,downstream_gene_variant,,ENST00000340850,NM_001042664.1;PLEKHG5,downstream_gene_variant,,ENST00000377748,NM_198681.3;ESPN,downstream_gene_variant,,ENST00000377828,NM_031475.2;PLEKHG5,downstream_gene_variant,,ENST00000400913,NM_001042665.1;ESPN,downstream_gene_variant,,ENST00000416731,;ESPN,downstream_gene_variant,,ENST00000434576,;ESPN,downstream_gene_variant,,ENST00000461727,;ESPN,downstream_gene_variant,,ENST00000475228,;ESPN,downstream_gene_variant,,ENST00000477679,;TNFRSF25,downstream_gene_variant,,ENST00000481401,;PLEKHG5,downstream_gene_variant,,ENST00000535355,NM_001265593.1;PLEKHG5,downstream_gene_variant,,ENST00000537245,NM_001265592.1;ESPN,downstream_gene_variant,,ENST00000633239,;ESPN,downstream_gene_variant,,ENST00000636330,;ESPN,downstream_gene_variant,,ENST00000636644,;ESPN,downstream_gene_variant,,ENST00000645284,;TNFRSF25,downstream_gene_variant,,ENST00000461703,;ESPN,downstream_gene_variant,,ENST00000468561,;TNFRSF25,downstream_gene_variant,,ENST00000475730,;TNFRSF25,3_prime_UTR_variant,,ENST00000485036,;TNFRSF25,3_prime_UTR_variant,,ENST00000480393,;TNFRSF25,3_prime_UTR_variant,,ENST00000414040,;TNFRSF25,3_prime_UTR_variant,,ENST00000510563,NM_001039664.1;TNFRSF25,3_prime_UTR_variant,,ENST00000502588,;TNFRSF25,3_prime_UTR_variant,,ENST00000502730,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000513135,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000473343,;TNFRSF25,non_coding_transcript_exon_variant,,ENST00000453260,;TNFRSF25,downstream_gene_variant,,ENST00000453341,;TNFRSF25,downstream_gene_variant,,ENST00000469691,;PLEKHG5,downstream_gene_variant,,ENST00000489097,;TNFRSF25,downstream_gene_variant,,ENST00000515145,;,regulatory_region_variant,,ENSR00000000675,; A ENSG00000215788 ENST00000377782 Transcript missense_variant 1117/1632 1049/1281 350/426 A/V gCg/gTg COSM6407531 1 -1 TNFRSF25 HGNC HGNC:11910 protein_coding YES CCDS72.1 ENSP00000367013 Q93038 UPI000002B5CB NM_148965.1 tolerated(0.12) possibly_damaging(0.796) 10/10 Gene3D:1.10.533.10,Pfam_domain:PF00531,PROSITE_profiles:PS50017,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF131,SMART_domains:SM00005,Superfamily_domains:SSF47986,cd08815 1 MODERATE 1 SNV 1 1 PASS CGC . . 6461666 AADACL3 . GRCh38 chr1 12719664 12719664 + Missense_Mutation SNP G G A rs200874855 7316-2594 BS_SGS26NXP G G c.358G>A p.Gly120Ser p.G120S ENST00000359318 2/4 68 41 26 49 49 0 AADACL3,missense_variant,p.Gly120Ser,ENST00000359318,NM_001103170.2;AADACL3,intron_variant,,ENST00000620146,; A ENSG00000188984 ENST00000359318 Transcript missense_variant 392/3662 358/1224 120/407 G/S Ggt/Agt rs200874855 1 1 AADACL3 HGNC HGNC:32037 protein_coding YES CCDS41253.2 ENSP00000352268 Q5VUY0 UPI0003EAEC70 NM_001103170.2 deleterious(0) probably_damaging(0.923) 2/4 hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF115,Gene3D:3.40.50.1820,Pfam_domain:PF07859,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474 0.0002 0.001 MODERATE 1 SNV 3 PASS CGG . . 1.625e-05 5.8e-05 1.792e-05 3.249e-05 12719664 PRAMEF12 . GRCh38 chr1 12777154 12777154 + Missense_Mutation SNP C C A novel 7316-2594 BS_SGS26NXP C C c.1007C>A p.Pro336His p.P336H ENST00000357726 3/3 62 34 27 36 35 0 PRAMEF12,missense_variant,p.Pro336His,ENST00000357726,NM_001080830.4; A ENSG00000116726 ENST00000357726 Transcript missense_variant 1034/1786 1007/1452 336/483 P/H cCt/cAt 1 1 PRAMEF12 HGNC HGNC:22125 protein_coding YES CCDS41254.1 ENSP00000350358 O95522 UPI0000EE6E0A NM_001080830.4 deleterious(0.01) possibly_damaging(0.891) 3/3 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,Superfamily_domains:SSF52047 MODERATE 1 SNV 2 PASS CCT . . 12777154 ZMYM1 . GRCh38 chr1 35113340 35113340 + Frame_Shift_Del DEL A A - 7316-2594 BS_SGS26NXP A A c.1516del p.Thr506ProfsTer15 p.T506Pfs*15 ENST00000611874 11/11 86 67 11 49 46 0 ZMYM1,frameshift_variant,p.Thr506ProfsTer15,ENST00000611874,NM_001289088.1;ZMYM1,frameshift_variant,p.Thr506ProfsTer15,ENST00000373330,NM_001289091.1,NM_001289090.1;ZMYM1,frameshift_variant,p.Thr506ProfsTer15,ENST00000359858,NM_001289089.1,NM_001319955.1,NM_024772.4;ZMYM1,downstream_gene_variant,,ENST00000417119,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000373329,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000488455,;ZMYM1,downstream_gene_variant,,ENST00000463393,;ZMYM1,downstream_gene_variant,,ENST00000475654,; - ENSG00000197056 ENST00000611874 Transcript frameshift_variant 1950/4466 1510/3429 504/1142 K/X Aaa/aa COSM1342112 1 1 ZMYM1 HGNC HGNC:26253 protein_coding YES CCDS41302.1 ENSP00000482579 Q5SVZ6 UPI0000203ED6 NM_001289088.1 11/11 Pfam_domain:PF14291,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF88 1 HIGH 1 deletion 2 6 1 PASS GGAA . . 35113339 AGO3 . GRCh38 chr1 36009517 36009520 + Frame_Shift_Del DEL ACAG ACAG - novel 7316-2594 BS_SGS26NXP ACAG ACAG c.1075_1078del p.Asp359IlefsTer6 p.D359Ifs*6 ENST00000373191 9/19 88 43 40 49 48 0 AGO3,frameshift_variant,p.Asp359IlefsTer6,ENST00000373191,NM_024852.3;AGO3,frameshift_variant,p.Asp125IlefsTer6,ENST00000246314,NM_177422.2;AL138787.2,non_coding_transcript_exon_variant,,ENST00000479395,;AL138787.2,intron_variant,,ENST00000466576,;AGO3,3_prime_UTR_variant,,ENST00000634486,; - ENSG00000126070 ENST00000373191 Transcript frameshift_variant 1421-1424/19687 1072-1075/2583 358-359/860 TD/X ACAGac/ac 1 1 AGO3 HGNC HGNC:18421 protein_coding YES CCDS399.1 ENSP00000362287 Q9H9G7 UPI0000141361 NM_024852.3 9/19 HAMAP:MF_03032,Pfam_domain:PF02170,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF3,SMART_domains:SM00949,Superfamily_domains:SSF101690 HIGH 1 deletion 2 3 PASS TAACAGA . . 36009516 THRAP3 . GRCh38 chr1 36301002 36301002 + Missense_Mutation SNP C C T rs557173988 7316-2594 BS_SGS26NXP C C c.2420C>T p.Thr807Met p.T807M ENST00000354618 10/12 85 58 26 39 39 0 THRAP3,missense_variant,p.Thr807Met,ENST00000354618,NM_005119.3,NM_001321473.1;THRAP3,missense_variant,p.Thr807Met,ENST00000469141,NM_001321471.1; T ENSG00000054118 ENST00000354618 Transcript missense_variant 2644/4432 2420/2868 807/955 T/M aCg/aTg rs557173988,COSM6801385 1 1 THRAP3 HGNC HGNC:22964 protein_coding YES CCDS405.1 ENSP00000346634 Q9Y2W1 UPI0000203F28 NM_005119.3,NM_001321473.1 tolerated(0.1) benign(0.186) 10/12 hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF16,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACG . . 1.218e-05 0.0001307 2.978e-05 36301002 ACOT11 . GRCh38 chr1 54607968 54607968 + Missense_Mutation SNP C C T rs140228757 7316-2594 BS_SGS26NXP C C c.1529C>T p.Ser510Leu p.S510L ENST00000371316 15/17 61 26 31 37 36 0 ACOT11,missense_variant,p.Ser510Leu,ENST00000371316,NM_015547.3;ACOT11,missense_variant,p.Ser510Leu,ENST00000343744,NM_147161.3;FAM151A,downstream_gene_variant,,ENST00000302250,NM_176782.2;FAM151A,downstream_gene_variant,,ENST00000371304,;ACOT11,non_coding_transcript_exon_variant,,ENST00000481208,; T ENSG00000162390 ENST00000371316 Transcript missense_variant 1611/6369 1529/1824 510/607 S/L tCg/tTg rs140228757,COSM369216,COSM369215 1 1 ACOT11 HGNC HGNC:18156 protein_coding YES CCDS592.1 ENSP00000360366 Q8WXI4 UPI0000136D55 NM_015547.3 deleterious(0) probably_damaging(1) 15/17 Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF1,SMART_domains:SM00234,Superfamily_domains:SSF55961,cd08913 0.0001163 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TCG . . 8.133e-06 6.538e-05 8.975e-06 54607968 PRKAA2 . GRCh38 chr1 56704374 56704374 + Frame_Shift_Del DEL A A - novel 7316-2594 BS_SGS26NXP A A c.1197del p.Ala400ProfsTer24 p.A400Pfs*24 ENST00000371244 7/9 84 48 27 44 41 0 PRKAA2,frameshift_variant,p.Ala400ProfsTer24,ENST00000371244,NM_006252.3;PRKAA2,frameshift_variant,p.Ala400ProfsTer24,ENST00000610361,; - ENSG00000162409 ENST00000371244 Transcript frameshift_variant 1258/9347 1192/1659 398/552 K/X Aaa/aa 1 1 PRKAA2 HGNC HGNC:9377 protein_coding YES CCDS605.1 ENSP00000360290 P54646 UPI00001250A9 NM_006252.3 7/9 PDB-ENSP_mappings:4cfe.A,PDB-ENSP_mappings:4cfe.C,PDB-ENSP_mappings:4cff.A,PDB-ENSP_mappings:4cff.C,PDB-ENSP_mappings:4zhx.A,PDB-ENSP_mappings:4zhx.C,PDB-ENSP_mappings:5ezv.A,PDB-ENSP_mappings:5ezv.C,PDB-ENSP_mappings:5iso.A,PDB-ENSP_mappings:5iso.C,cd12200,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF303 HIGH 1 deletion 1 5 PASS TGAA . . 56704373 TM2D1 . GRCh38 chr1 61723789 61723789 + Splice_Region DEL A A - rs147863719 7316-2594 BS_SGS26NXP A A c.165-3del ENST00000606498 94 46 34 49 48 0 TM2D1,splice_region_variant,,ENST00000294613,;TM2D1,splice_region_variant,,ENST00000371177,;TM2D1,splice_region_variant,,ENST00000371180,;TM2D1,splice_region_variant,,ENST00000606498,NM_032027.2;TM2D1,splice_region_variant,,ENST00000371178,;TM2D1,intron_variant,,ENST00000468586,;TM2D1,intron_variant,,ENST00000488206,;TM2D1,intron_variant,,ENST00000494926,;TM2D1,intron_variant,,ENST00000496465,; - ENSG00000162604 ENST00000606498 Transcript splice_region_variant,intron_variant rs147863719,COSM5491129,COSM5491128,COSM5491127 1 -1 TM2D1 HGNC HGNC:24142 protein_coding YES CCDS65554.1 ENSP00000475700 Q9BX74 UPI000006D36C NM_032027.2 1/6 0,1,1,1 LOW 1 deletion 5 0,1,1,1 PASS GTAA . . 0.007169 0.006118 0.01337 0.006628 0.01127 0.004375 0.005221 0.01048 0.008842 61723788 CYR61 . GRCh38 chr1 85582458 85582458 + Missense_Mutation SNP G G A novel 7316-2594 BS_SGS26NXP G G c.677G>A p.Gly226Asp p.G226D ENST00000451137 4/5 83 48 33 40 40 0 CYR61,missense_variant,p.Gly226Asp,ENST00000451137,NM_001554.4;DDAH1,upstream_gene_variant,,ENST00000426972,NM_001134445.1;DDAH1,upstream_gene_variant,,ENST00000535924,NM_001330655.1;AC092807.3,upstream_gene_variant,,ENST00000467530,;AC092807.3,upstream_gene_variant,,ENST00000498304,;AC092807.2,upstream_gene_variant,,ENST00000609367,;CYR61,downstream_gene_variant,,ENST00000480413,;DDAH1,upstream_gene_variant,,ENST00000483110,;,regulatory_region_variant,,ENSR00000252790,; A ENSG00000142871 ENST00000451137 Transcript missense_variant 901/2290 677/1146 226/381 G/D gGc/gAc 1 1 CYR61 HGNC HGNC:2654 protein_coding YES CCDS706.1 ENSP00000398736 O00622 Q6FI18 UPI00000473C9 NM_001554.4 tolerated(0.58) benign(0.006) 4/5 hmmpanther:PTHR11348,hmmpanther:PTHR11348:SF18,PIRSF_domain:PIRSF036495 MODERATE 1 SNV 1 PASS GGC . . 85582458 SLC22A15 . GRCh38 chr1 116035234 116035234 + Missense_Mutation SNP A A G novel 7316-2594 BS_SGS26NXP A A c.992A>G p.Asp331Gly p.D331G ENST00000369503 7/12 82 46 35 36 36 0 SLC22A15,missense_variant,p.Asp331Gly,ENST00000369503,NM_018420.2;SLC22A15,downstream_gene_variant,,ENST00000369502,;SLC22A15,non_coding_transcript_exon_variant,,ENST00000481127,; G ENSG00000163393 ENST00000369503 Transcript missense_variant 1122/4720 992/1644 331/547 D/G gAt/gGt 1 1 SLC22A15 HGNC HGNC:20301 protein_coding YES CCDS44198.1 ENSP00000358515 Q8IZD6 UPI000007412F NM_018420.2 deleterious(0.01) benign(0.348) 7/12 PROSITE_profiles:PS50850,cd06174,hmmpanther:PTHR24064:SF170,hmmpanther:PTHR24064,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473 MODERATE 1 SNV 1 PASS GAT . . 116035234 CD101 . GRCh38 chr1 117018505 117018505 + Frame_Shift_Del DEL C C - 7316-2594 BS_SGS26NXP C C c.1967del p.Pro656ArgfsTer10 p.P656Rfs*10 ENST00000369470 6/10 85 50 26 44 44 0 CD101,frameshift_variant,p.Pro656ArgfsTer10,ENST00000369470,NM_001256106.2,NM_004258.5,NM_001256109.2,NM_001256111.2;CD101,frameshift_variant,p.Pro656ArgfsTer10,ENST00000256652,; - ENSG00000134256 ENST00000369470 Transcript frameshift_variant 1968/3324 1962/3066 654/1021 R/X cgC/cg COSM2178748 1 1 CD101 HGNC HGNC:5949 protein_coding YES CCDS891.1 ENSP00000358482 Q93033 UPI000013CF1F NM_001256106.2,NM_004258.5,NM_001256109.2,NM_001256111.2 6/10 hmmpanther:PTHR12207:SF25,hmmpanther:PTHR12207,Gene3D:2.60.40.10,SMART_domains:SM00409 1 HIGH 1 deletion 1 5 1 PASS CGCC . . 117018504 WARS2 . GRCh38 chr1 119033120 119033120 + Missense_Mutation SNP G G A rs201132666 7316-2594 BS_SGS26NXP G G c.874C>T p.Arg292Cys p.R292C ENST00000235521 6/6 67 45 22 37 37 0 WARS2,missense_variant,p.Arg292Cys,ENST00000235521,NM_015836.3;WARS2,3_prime_UTR_variant,,ENST00000369426,NM_201263.2;WARS2,downstream_gene_variant,,ENST00000495746,;WARS2,downstream_gene_variant,,ENST00000497402,; A ENSG00000116874 ENST00000235521 Transcript missense_variant 901/2800 874/1083 292/360 R/C Cgc/Tgc rs201132666,COSM202350 1 -1 WARS2 HGNC HGNC:12730 protein_coding YES CCDS900.1 ENSP00000235521 Q9UGM6 UPI000004A002 NM_015836.3 tolerated(0.08) benign(0.022) 6/6 HAMAP:MF_00140_B,cd00806,hmmpanther:PTHR43766,Pfam_domain:PF00579,Gene3D:1.10.240.10,TIGRFAM_domain:TIGR00233,Superfamily_domains:SSF52374 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGC . . 0.000126 6.535e-05 0.0005956 6.274e-05 0.000365 3.249e-05 119033120 NBPF25P . GRCh38 chr1 145602042 145602042 + Splice_Region DEL A A - rs1282393038 7316-2594 BS_SGS26NXP A A n.39-3del ENST00000619932 85 43 35 34 31 0 NBPF25P,splice_region_variant,,ENST00000619932,; - ENSG00000272150 ENST00000619932 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1282393038 1 -1 NBPF25P HGNC HGNC:45046 processed_transcript YES 1/19 0.03154 0.004325 0.003003 0.002002 0.009238 LOW 1 deletion 2 PASS CTAA . . 145602041 HCN3 . GRCh38 chr1 155285868 155285868 + Missense_Mutation SNP G G A rs114620093 7316-2594 BS_SGS26NXP G G c.1381G>A p.Val461Met p.V461M ENST00000368358 6/8 67 42 22 48 48 0 HCN3,missense_variant,p.Val461Met,ENST00000368358,NM_020897.2;PKLR,downstream_gene_variant,,ENST00000342741,NM_000298.5;PKLR,downstream_gene_variant,,ENST00000392414,;PKLR,downstream_gene_variant,,ENST00000646151,NM_181871.3;HCN3,non_coding_transcript_exon_variant,,ENST00000496230,;HCN3,intron_variant,,ENST00000467204,;HCN3,upstream_gene_variant,,ENST00000492035,; A ENSG00000143630 ENST00000368358 Transcript missense_variant 1389/3718 1381/2325 461/774 V/M Gtg/Atg rs114620093 1 1 HCN3 HGNC HGNC:19183 protein_coding YES CCDS1108.1 ENSP00000357342 Q9P1Z3 UPI00000559A6 NM_020897.2 tolerated(0.07) benign(0.172) 6/8 PROSITE_profiles:PS50042,cd00038,hmmpanther:PTHR10217:SF507,hmmpanther:PTHR10217,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206 0.0044 0.0166 0.01407 MODERATE 1 SNV 1 PASS CGT . . 0.0009304 0.01405 0.0003276 5.8e-05 8.961e-06 3.249e-05 155285868 ARHGEF2 . GRCh38 chr1 155950911 155950911 + Missense_Mutation SNP G G T novel 7316-2594 BS_SGS26NXP G G c.2621C>A p.Pro874His p.P874H ENST00000361247 20/22 95 90 5 42 42 0 ARHGEF2,missense_variant,p.Pro919His,ENST00000462460,;ARHGEF2,missense_variant,p.Pro874His,ENST00000361247,NM_001162383.1;ARHGEF2,missense_variant,p.Pro846His,ENST00000313695,NM_004723.3;ARHGEF2,missense_variant,p.Pro873His,ENST00000313667,NM_001162384.1;ARHGEF2,missense_variant,p.Pro141His,ENST00000470541,;ARHGEF2,missense_variant,p.Pro244His,ENST00000368315,;MIR6738,downstream_gene_variant,,ENST00000619620,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,downstream_gene_variant,,ENST00000474428,;ARHGEF2,downstream_gene_variant,,ENST00000470975,; T ENSG00000116584 ENST00000361247 Transcript missense_variant 2721/4149 2621/2961 874/986 P/H cCc/cAc 1 -1 ARHGEF2 HGNC HGNC:682 protein_coding YES CCDS53376.1 ENSP00000354837 Q92974 UPI000045892C NM_001162383.1 deleterious(0.02) possibly_damaging(0.735) 20/22 hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF113,mobidb-lite MODERATE 1 SNV 1 1 PASS GGG . . 155950911 AL355388.1 . GRCh38 chr1 155991515 155991516 + Splice_Region DEL GT GT - rs796904230 7316-2594 BS_SGS26NXP GT GT n.121+22_121+23del ENST00000415726 65 44 8 47 39 0 ARHGEF2,intron_variant,,ENST00000423422,;ARHGEF2,upstream_gene_variant,,ENST00000462460,;ARHGEF2,upstream_gene_variant,,ENST00000495070,;AL355388.1,splice_region_variant,,ENST00000415726,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,upstream_gene_variant,,ENST00000609126,;,regulatory_region_variant,,ENSR00000014127,; - ENSG00000224276 ENST00000415726 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs796904230 1 1 AL355388.1 Clone_based_ensembl_gene antisense YES 1/1 LOW 1 deletion 2 17 PASS GAGTG . . 155991514 ISG20L2 . GRCh38 chr1 156726956 156726956 + Missense_Mutation SNP G G A rs1444356648 7316-2594 BS_SGS26NXP G G c.697C>T p.Arg233Trp p.R233W ENST00000313146 1/3 68 63 5 36 36 0 ISG20L2,missense_variant,p.Arg233Trp,ENST00000313146,NM_001303095.1;ISG20L2,missense_variant,p.Arg233Trp,ENST00000368219,;RRNAD1,upstream_gene_variant,,ENST00000368216,NM_015997.3;RRNAD1,upstream_gene_variant,,ENST00000368218,NM_001142560.1;RRNAD1,upstream_gene_variant,,ENST00000484742,;RRNAD1,upstream_gene_variant,,ENST00000519086,;RRNAD1,upstream_gene_variant,,ENST00000524343,;ISG20L2,non_coding_transcript_exon_variant,,ENST00000496538,;ISG20L2,downstream_gene_variant,,ENST00000469074,;ISG20L2,downstream_gene_variant,,ENST00000470713,;ISG20L2,upstream_gene_variant,,ENST00000472824,; A ENSG00000143319 ENST00000313146 Transcript missense_variant 1480/3303 697/1062 233/353 R/W Cgg/Tgg rs1444356648 1 -1 ISG20L2 HGNC HGNC:25745 protein_coding YES CCDS1153.1 ENSP00000323424 Q9H9L3 UPI000006D42B NM_001303095.1 deleterious(0) possibly_damaging(0.581) 1/3 cd06149,hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF78,Pfam_domain:PF00929,Gene3D:3.30.420.10,SMART_domains:SM00479,Superfamily_domains:SSF53098 MODERATE SNV 2 PASS CGG . . 8.122e-06 2.978e-05 0.0001015 156726956 TMCO1 . GRCh38 chr1 165743319 165743320 + Splice_Region DEL AA AA - rs751227407 7316-2594 BS_SGS26NXP AA AA c.477-9_477-8del ENST00000612311 100 39 38 40 33 0 TMCO1,splice_region_variant,,ENST00000367881,;TMCO1,splice_region_variant,,ENST00000392129,;TMCO1,splice_region_variant,,ENST00000464650,;TMCO1,splice_region_variant,,ENST00000481278,NM_001256165.1;TMCO1,splice_region_variant,,ENST00000580248,;TMCO1,splice_region_variant,,ENST00000612311,NM_019026.4,NM_001256164.1;TMCO1,splice_region_variant,,ENST00000465705,;TMCO1,splice_region_variant,,ENST00000476143,; - ENSG00000143183 ENST00000612311 Transcript splice_region_variant,intron_variant rs751227407 1 -1 TMCO1 HGNC HGNC:18188 protein_coding YES CCDS1251.2 ENSP00000480514 J9JIE6 UPI0000EE3C5A NM_019026.4,NM_001256164.1 5/6 LOW 1 deletion 1 1 PASS AGAAA . . 0.003234 0.003811 0.005389 0.001942 0.00299 0.001297 0.002942 0.00347 0.003844 165743318 RABGAP1L . GRCh38 chr1 174964991 174964991 + Splice_Region DEL T T - rs768299913 7316-2594 BS_SGS26NXP T T c.39+15del ENST00000367688 84 44 32 31 27 1 RABGAP1L,splice_region_variant,,ENST00000367688,NM_001243764.1;RABGAP1L,splice_region_variant,,ENST00000485114,;RABGAP1L,intron_variant,,ENST00000325589,;RABGAP1L,intron_variant,,ENST00000347255,;RABGAP1L,intron_variant,,ENST00000367687,;RABGAP1L,intron_variant,,ENST00000392064,;RABGAP1L,intron_variant,,ENST00000465412,;RABGAP1L,intron_variant,,ENST00000489615,NM_001243765.1;RABGAP1L,intron_variant,,ENST00000469553,;,regulatory_region_variant,,ENSR00000016078,; - ENSG00000152061 ENST00000367688 Transcript splice_region_variant,intron_variant rs768299913 1 1 RABGAP1L HGNC HGNC:24663 protein_coding CCDS55662.1 ENSP00000356661 B7ZAP0 UPI0001915420 NM_001243764.1 1/6 LOW deletion 2 9 PASS AGTT . . 0.004553 0.00467 0.006303 0.001898 0.004379 0.0025 0.003721 0.005855 0.006187 174964990 CLEC20A . GRCh38 chr1 178483231 178483231 + Missense_Mutation SNP G G A rs926336699 7316-2594 BS_SGS26NXP G G c.980C>T p.Thr327Met p.T327M ENST00000623247 6/8 86 46 38 40 39 0 CLEC20A,missense_variant,p.Thr327Met,ENST00000623247,;CLEC20A,missense_variant,p.Thr149Met,ENST00000646925,;RASAL2,3_prime_UTR_variant,,ENST00000462775,NM_004841.3;RF00017,upstream_gene_variant,,ENST00000619896,;CLEC20A,non_coding_transcript_exon_variant,,ENST00000641292,; A ENSG00000188585 ENST00000623247 Transcript missense_variant 980/1491 980/1203 327/400 T/M aCg/aTg rs926336699 1 -1 CLEC20A HGNC HGNC:34521 protein_coding YES ENSP00000490899 Q6ZU45 UPI0007E52AC8 tolerated(0.1) possibly_damaging(0.87) 6/8 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS CGT . . 178483231 TPR . GRCh38 chr1 186361666 186361666 + Missense_Mutation SNP C C T rs903481082 7316-2594 BS_SGS26NXP C C c.914G>A p.Arg305Gln p.R305Q ENST00000367478 9/51 92 51 40 44 42 0 TPR,missense_variant,p.Arg305Gln,ENST00000367478,NM_003292.2;TPR,missense_variant,p.Arg305Gln,ENST00000613151,;TPR,non_coding_transcript_exon_variant,,ENST00000474852,; T ENSG00000047410 ENST00000367478 Transcript missense_variant 1211/9708 914/7092 305/2363 R/Q cGg/cAg rs903481082 1 -1 TPR HGNC HGNC:12017 protein_coding YES CCDS41446.1 ENSP00000356448 P12270 UPI000046FCF4 NM_003292.2 tolerated(0.26) benign(0.013) 9/51 Gene3D:1.20.120.330,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18898 MODERATE 1 SNV 1 1 PASS CCG . . 1.219e-05 2.98e-05 1.792e-05 186361666 GLRX2 . GRCh38 chr1 193096647 193096648 + Frame_Shift_Ins INS - - T rs1254698916 7316-2594 BS_SGS26NXP - - c.475dup p.Ser159LysfsTer2 p.S159Kfs*2 ENST00000367440 4/4 81 73 5 42 38 0 GLRX2,frameshift_variant,p.Ser159LysfsTer2,ENST00000367440,NM_001243399.1,NM_016066.4;GLRX2,frameshift_variant,p.Ser158LysfsTer2,ENST00000367439,NM_001319291.1,NM_197962.2;TROVE2,downstream_gene_variant,,ENST00000367443,NM_001173525.1;TROVE2,downstream_gene_variant,,ENST00000367444,NM_001042369.2;TROVE2,downstream_gene_variant,,ENST00000367445,NM_001042370.2;GLRX2,downstream_gene_variant,,ENST00000472197,;GLRX2,frameshift_variant,p.Ser158LysfsTer2,ENST00000608166,; T ENSG00000023572 ENST00000367440 Transcript frameshift_variant 951-952/1131 475-476/498 159/165 S/KX agt/aAgt rs1254698916 1 -1 GLRX2 HGNC HGNC:16065 protein_coding YES CCDS1380.1 ENSP00000356410 Q9NS18 UPI000006F2AD NM_001243399.1,NM_016066.4 4/4 Gene3D:3.40.30.10,hmmpanther:PTHR10168,hmmpanther:PTHR10168:SF184 HIGH 1 insertion 1 PASS ACT . . 4.251e-06 9.337e-06 193096647 H3F3A . GRCh38 chr1 226064434 226064434 + Missense_Mutation SNP A A T rs1057519903 7316-2594 BS_SGS26NXP A A c.83A>T p.Lys28Met p.K28M ENST00000366813 1/3 81 49 32 49 48 0 H3F3A,missense_variant,p.Lys28Met,ENST00000366814,;H3F3A,missense_variant,p.Lys28Met,ENST00000366813,;H3F3A,missense_variant,p.Lys28Met,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Lys28Met,ENST00000366816,;AL512343.2,upstream_gene_variant,,ENST00000609423,;,regulatory_region_variant,,ENSR00000021067,; T ENSG00000163041 ENST00000366813 Transcript missense_variant 458/1308 83/411 28/136 K/M aAg/aTg rs1057519903,COSM327928,COSM1961654 1 1 H3F3A HGNC HGNC:4764 protein_coding YES CCDS1550.1 ENSP00000355778 P84243 B2R4P9 UPI00000007B0 deleterious_low_confidence(0.01) possibly_damaging(0.697) 1/3 Gene3D:1.10.20.10,PDB-ENSP_mappings:3av2.A,PDB-ENSP_mappings:3av2.E,PDB-ENSP_mappings:3muk.D,PDB-ENSP_mappings:3wtp.E,PDB-ENSP_mappings:4h9n.A,PDB-ENSP_mappings:4h9o.A,PDB-ENSP_mappings:4h9p.A,PDB-ENSP_mappings:4h9q.A,PDB-ENSP_mappings:4h9r.A,PDB-ENSP_mappings:4h9s.A,PDB-ENSP_mappings:4h9s.B,PDB-ENSP_mappings:4hga.B,PDB-ENSP_mappings:4n4i.B,PDB-ENSP_mappings:5ay8.A,PDB-ENSP_mappings:5ay8.E,PDB-ENSP_mappings:5b32.A,PDB-ENSP_mappings:5b32.E,PDB-ENSP_mappings:5b33.A,PDB-ENSP_mappings:5b33.E,PDB-ENSP_mappings:5dwq.F,PDB-ENSP_mappings:5dwq.G,PDB-ENSP_mappings:5dx0.F,PDB-ENSP_mappings:5dx0.G,PDB-ENSP_mappings:5dx0.H,PDB-ENSP_mappings:5dx0.I,PDB-ENSP_mappings:5kdm.A,PDB-ENSP_mappings:5x7x.A,PDB-ENSP_mappings:5x7x.E,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Superfamily_domains:SSF47113,mobidb-lite likely_pathogenic 1,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS AAG . . 226064434 AC011747.2 . GRCh38 chr2 8545242 8545242 + Splice_Region DEL A A - rs1291184725 7316-2594 BS_SGS26NXP A A n.137-6del ENST00000418358 70 38 15 42 34 0 AC011747.2,splice_region_variant,,ENST00000418358,;,regulatory_region_variant,,ENSR00000112436,; - ENSG00000231435 ENST00000418358 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1291184725 1 -1 AC011747.2 Clone_based_ensembl_gene lincRNA YES 1/2 LOW 1 deletion 5 PASS ATAA . . 8545241 GAREM2 . GRCh38 chr2 26184431 26184431 + Missense_Mutation SNP G G A novel 7316-2594 BS_SGS26NXP G G c.583G>A p.Ala195Thr p.A195T ENST00000401533 4/6 68 41 26 44 44 0 GAREM2,missense_variant,p.Ala118Thr,ENST00000407684,NM_001191033.1;GAREM2,missense_variant,p.Ala195Thr,ENST00000401533,NM_001168241.1;GAREM2,upstream_gene_variant,,ENST00000496070,; A ENSG00000157833 ENST00000401533 Transcript missense_variant 713/4161 583/2625 195/874 A/T Gcg/Acg 1 1 GAREM2 HGNC HGNC:27172 protein_coding YES CCDS54336.1 ENSP00000384593 Q75VX8 UPI0000237273 NM_001168241.1 tolerated_low_confidence(0.77) benign(0.001) 4/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF5,Pfam_domain:PF12736 MODERATE 1 SNV 1 PASS CGC . . 26184431 XDH . GRCh38 chr2 31366108 31366108 + Missense_Mutation SNP C C T rs1375969061 7316-2594 BS_SGS26NXP C C c.2324G>A p.Ser775Asn p.S775N ENST00000379416 22/36 67 46 20 35 33 0 XDH,missense_variant,p.Ser775Asn,ENST00000379416,NM_000379.3; T ENSG00000158125 ENST00000379416 Transcript missense_variant,splice_region_variant 2373/5688 2324/4002 775/1333 S/N aGc/aAc rs1375969061,COSM4400911 1 -1 XDH HGNC HGNC:12805 protein_coding YES CCDS1775.1 ENSP00000368727 P47989 UPI0000036BC9 NM_000379.3 tolerated(0.11) benign(0.003) 22/36 PDB-ENSP_mappings:2ckj.A,PDB-ENSP_mappings:2ckj.B,PDB-ENSP_mappings:2ckj.C,PDB-ENSP_mappings:2ckj.D,PDB-ENSP_mappings:2e1q.A,PDB-ENSP_mappings:2e1q.B,PDB-ENSP_mappings:2e1q.C,PDB-ENSP_mappings:2e1q.D,Gene3D:3.30.365.10,Pfam_domain:PF02738,PIRSF_domain:PIRSF000127,hmmpanther:PTHR11908,hmmpanther:PTHR11908:SF80,Superfamily_domains:SSF56003 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCT . . 4.061e-06 3.249e-05 31366108 TTC27 . GRCh38 chr2 32736694 32736694 + Missense_Mutation SNP C C T rs374917696 7316-2594 BS_SGS26NXP C C c.1330C>T p.Arg444Cys p.R444C ENST00000317907 12/20 86 39 47 48 47 0 TTC27,missense_variant,p.Arg444Cys,ENST00000317907,NM_017735.4,NM_001193509.1;TTC27,upstream_gene_variant,,ENST00000433416,;TTC27,downstream_gene_variant,,ENST00000454690,; T ENSG00000018699 ENST00000317907 Transcript missense_variant,splice_region_variant 1561/2876 1330/2532 444/843 R/C Cgc/Tgc rs374917696 1 1 TTC27 HGNC HGNC:25986 protein_coding YES CCDS33176.1 ENSP00000313953 Q6P3X3 UPI0000208226 NM_017735.4,NM_001193509.1 deleterious(0) possibly_damaging(0.684) 12/20 hmmpanther:PTHR16193,Gene3D:1.25.40.10 0.0002326 MODERATE 1 SNV 1 PASS GCG . . 0.0001019 8.977e-05 0.001832 5.801e-05 8.992e-06 0.0003667 32736694 MSH6 . GRCh38 chr2 47803500 47803501 + Frame_Shift_Ins INS - - C rs748452299,rs1361078163 7316-2594 BS_SGS26NXP - - c.3261dup p.Phe1088LeufsTer5 p.F1088Lfs*5 ENST00000234420 5/10 69 36 23 44 41 0 MSH6,frameshift_variant,p.Phe1088LeufsTer5,ENST00000234420,NM_000179.2;MSH6,frameshift_variant,p.Phe56LeufsTer5,ENST00000622629,;MSH6,frameshift_variant,p.Phe786LeufsTer5,ENST00000614496,NM_001281493.1;MSH6,frameshift_variant,p.Phe786LeufsTer5,ENST00000538136,NM_001281494.1;MSH6,frameshift_variant,p.Phe958LeufsTer5,ENST00000540021,NM_001281492.1;FBXO11,intron_variant,,ENST00000405808,;FBXO11,downstream_gene_variant,,ENST00000402508,NM_025133.4;FBXO11,downstream_gene_variant,,ENST00000403359,NM_001190274.1;MSH6,downstream_gene_variant,,ENST00000411819,;MSH6,downstream_gene_variant,,ENST00000455383,;MSH6,downstream_gene_variant,,ENST00000616033,;MSH6,3_prime_UTR_variant,,ENST00000445503,;FBXO11,intron_variant,,ENST00000434234,;MSH6,downstream_gene_variant,,ENST00000456246,;FBXO11,downstream_gene_variant,,ENST00000465204,; C ENSG00000116062 ENST00000234420 Transcript frameshift_variant 3405-3406/7476 3253-3254/4083 1085/1360 T/TX acc/aCcc rs748452299,rs1361078163 1 1 MSH6 HGNC HGNC:7329 protein_coding YES CCDS1836.1 ENSP00000234420 P52701 UPI00000405F8 NM_000179.2 5/10 hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF31,PIRSF_domain:PIRSF037677,Gene3D:3.40.50.300,SMART_domains:SM00533,Superfamily_domains:SSF52540 0.005157 0.001575 pathogenic 23757202,26845104 HIGH 1 insertion 1 8 1 PASS TAC . . 5.714e-05 2.987e-05 8.99e-05 8.114e-05 0.0001832 3.259e-05 47803500 USP34 . GRCh38 chr2 61350392 61350392 + Splice_Region DEL A A - rs745413034 7316-2594 BS_SGS26NXP A A c.1378-3del ENST00000398571 84 48 32 47 43 0 USP34,splice_region_variant,,ENST00000398571,NM_014709.3;USP34,upstream_gene_variant,,ENST00000460004,;USP34,splice_region_variant,,ENST00000453133,; - ENSG00000115464 ENST00000398571 Transcript splice_region_variant,intron_variant rs745413034,COSM3730650 1 -1 USP34 HGNC HGNC:20066 protein_coding YES CCDS42686.1 ENSP00000381577 Q70CQ2 UPI0000410E09 NM_014709.3 11/79 0.0002844 0.0005124 0,1 LOW 1 deletion 5 0,1 PASS CTAA . . 5.753e-05 6.283e-05 4.737e-05 0.0002012 0.0002309 61350391 WDPCP . GRCh38 chr2 63404409 63404409 + Missense_Mutation SNP A A T novel 7316-2594 BS_SGS26NXP A A c.1074T>A p.Asp358Glu p.D358E ENST00000272321 10/18 82 47 34 39 39 0 WDPCP,missense_variant,p.Asp166Glu,ENST00000409120,;WDPCP,missense_variant,p.Asp358Glu,ENST00000409562,;WDPCP,missense_variant,p.Asp358Glu,ENST00000272321,NM_015910.5;WDPCP,missense_variant,p.Asp166Glu,ENST00000409199,;WDPCP,missense_variant,p.Asp199Glu,ENST00000398544,NM_001042692.2;WDPCP,non_coding_transcript_exon_variant,,ENST00000409835,;WDPCP,missense_variant,p.Asp145Glu,ENST00000409354,;WDPCP,3_prime_UTR_variant,,ENST00000417238,;WDPCP,non_coding_transcript_exon_variant,,ENST00000493315,; T ENSG00000143951 ENST00000272321 Transcript missense_variant 1602/3392 1074/2241 358/746 D/E gaT/gaA 1 -1 WDPCP HGNC HGNC:28027 protein_coding YES CCDS42688.1 ENSP00000272321 O95876 UPI000013D946 NM_015910.5 deleterious(0) probably_damaging(0.999) 10/18 Gene3D:2.130.10.10,Pfam_domain:PF11768,hmmpanther:PTHR13667,Superfamily_domains:SSF50978 MODERATE 1 SNV 1 1 PASS AAT . . 63404409 PELI1 . GRCh38 chr2 64096618 64096618 + Splice_Region DEL A A - rs748132715 7316-2594 BS_SGS26NXP A A c.304-8del ENST00000358912 76 40 29 42 37 2 PELI1,splice_region_variant,,ENST00000358912,NM_020651.3;PELI1,downstream_gene_variant,,ENST00000466177,; - ENSG00000197329 ENST00000358912 Transcript splice_region_variant,intron_variant rs748132715,COSM3730651 1 -1 PELI1 HGNC HGNC:8827 protein_coding YES CCDS1876.1 ENSP00000351789 Q96FA3 Q53T26 UPI00000443B7 NM_020651.3 4/6 0,1 LOW 1 deletion 1 0,1 PASS GGAA . . 0.2342 0.2371 0.2846 0.2914 0.246 0.1943 0.2075 0.2561 0.2957 64096617 MEIS1-AS3 . GRCh38 chr2 66427167 66427167 + Splice_Region DEL A A - rs34893420 7316-2594 BS_SGS26NXP A A n.280-5del ENST00000454167 75 43 23 45 39 2 MEIS1-AS3,splice_region_variant,,ENST00000454167,; - ENSG00000226819 ENST00000454167 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs34893420 1 -1 MEIS1-AS3 HGNC HGNC:40369 antisense YES 3/3 0.7584 0.8525 0.6268 0.63 0.7505 0.865 LOW 1 deletion 4 PASS GGAA . . 66427166 CLASP1 . GRCh38 chr2 121469844 121469844 + Missense_Mutation SNP G G A rs1232051803 7316-2594 BS_SGS26NXP G G c.829C>T p.Arg277Trp p.R277W ENST00000263710 9/40 75 68 6 28 28 0 CLASP1,missense_variant,p.Arg277Trp,ENST00000263710,NM_015282.2;CLASP1,missense_variant,p.Arg277Trp,ENST00000409078,NM_001142274.1;CLASP1,missense_variant,p.Arg277Trp,ENST00000397587,;CLASP1,missense_variant,p.Arg277Trp,ENST00000541377,NM_001207051.1;CLASP1,missense_variant,p.Arg277Trp,ENST00000646274,;CLASP1,missense_variant,p.Arg277Trp,ENST00000455322,NM_001142273.1;CLASP1,missense_variant,p.Arg58Trp,ENST00000452274,;CLASP1,missense_variant,p.Arg46Trp,ENST00000418989,;CLASP1,missense_variant,p.Arg46Trp,ENST00000449975,;CLASP1,non_coding_transcript_exon_variant,,ENST00000430234,;CLASP1,non_coding_transcript_exon_variant,,ENST00000480007,;CLASP1,non_coding_transcript_exon_variant,,ENST00000474065,; A ENSG00000074054 ENST00000263710 Transcript missense_variant 1219/8092 829/4617 277/1538 R/W Cgg/Tgg rs1232051803 1 -1 CLASP1 HGNC HGNC:17088 protein_coding YES ENSP00000263710 Q7Z460 UPI00001A8BFF NM_015282.2 deleterious(0) probably_damaging(0.989) 9/40 hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF28,mobidb-lite MODERATE 1 SNV 5 PASS CGG . . 121469844 THSD7B . GRCh38 chr2 137275985 137275985 + Missense_Mutation SNP C C T rs568467115 7316-2594 BS_SGS26NXP C C c.2459C>T p.Thr820Met p.T820M ENST00000409968 12/28 105 96 5 47 47 0 THSD7B,missense_variant,p.Thr820Met,ENST00000409968,NM_001316349.1;THSD7B,missense_variant,p.Thr820Met,ENST00000272643,;THSD7B,missense_variant,p.Thr789Met,ENST00000413152,; T ENSG00000144229 ENST00000409968 Transcript missense_variant 2637/6111 2459/4821 820/1606 T/M aCg/aTg rs568467115,COSM3390950,COSM3390949 1 1 THSD7B HGNC HGNC:29348 protein_coding YES CCDS82515.1 ENSP00000387145 E7EM75 UPI00018816B7 NM_001316349.1 tolerated(0.34) benign(0.003) 12/28 Gene3D:2.20.100.10,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7 0.0002 0.001 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ACG . . 4.482e-05 6.558e-05 8.999e-05 4.492e-05 0.0001839 3.252e-05 137275985 RPL7P61 . GRCh38 chr2 163152765 163152766 + Splice_Region DEL TT TT - rs1491021235 7316-2594 BS_SGS26NXP TT TT n.241-5_241-4del ENST00000451721 50 11 13 39 21 0 RPL7P61,splice_region_variant,,ENST00000451721,; - ENSG00000230282 ENST00000451721 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1491021235 1 -1 RPL7P61 HGNC HGNC:49217 processed_pseudogene YES 1/1 LOW 1 deletion PASS CCTTT . . 163152764 GRB14 . GRCh38 chr2 164508856 164508856 + Splice_Region DEL A A - rs779497095 7316-2594 BS_SGS26NXP A A c.817-4del ENST00000263915 88 47 32 39 36 1 GRB14,splice_region_variant,,ENST00000263915,NM_004490.2,NM_001303422.1;GRB14,splice_region_variant,,ENST00000446413,;GRB14,splice_region_variant,,ENST00000469573,;GRB14,splice_region_variant,,ENST00000488342,; - ENSG00000115290 ENST00000263915 Transcript splice_region_variant,intron_variant rs779497095,TMP_ESP_2_165365366_165365366,COSM253002 1 -1 GRB14 HGNC HGNC:4565 protein_coding YES CCDS2222.1 ENSP00000263915 Q14449 UPI000013D489 NM_004490.2,NM_001303422.1 6/13 0.01784 0.01103 0,0,1 LOW 1 deletion 1 0,0,1 PASS TTAA . . 0.01134 0.007984 0.0187 0.02481 0.01091 0.005045 0.00928 0.01499 0.02095 164508855 WIPF1 . GRCh38 chr2 174572282 174572282 + Missense_Mutation SNP C C T rs199846616 7316-2594 BS_SGS26NXP C C c.523G>A p.Asp175Asn p.D175N ENST00000392547 5/8 69 36 30 42 41 0 WIPF1,missense_variant,p.Asp175Asn,ENST00000392547,NM_003387.4;WIPF1,missense_variant,p.Asp175Asn,ENST00000272746,;WIPF1,missense_variant,p.Asp175Asn,ENST00000409891,;WIPF1,missense_variant,p.Asp175Asn,ENST00000392546,;WIPF1,missense_variant,p.Asp175Asn,ENST00000359761,NM_001077269.1;WIPF1,missense_variant,p.Asp175Asn,ENST00000409415,;WIPF1,downstream_gene_variant,,ENST00000410117,;WIPF1,downstream_gene_variant,,ENST00000436221,;WIPF1,downstream_gene_variant,,ENST00000455428,;AC010894.3,intron_variant,,ENST00000412835,;AC010894.3,intron_variant,,ENST00000442996,;AC010894.4,upstream_gene_variant,,ENST00000454203,;WIPF1,upstream_gene_variant,,ENST00000467149,; T ENSG00000115935 ENST00000392547 Transcript missense_variant 623/4587 523/1512 175/503 D/N Gac/Aac rs199846616 1 -1 WIPF1 HGNC HGNC:12736 protein_coding YES CCDS2260.1 ENSP00000376330 O43516 A0A140VJZ9 UPI000013D4BD NM_003387.4 tolerated(0.07) benign(0.013) 5/8 mobidb-lite,hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF32 MODERATE 1 SNV 1 1 PASS TCG . . 174572282 SGO2 . GRCh38 chr2 200542622 200542622 + Missense_Mutation SNP G G A rs780168754 7316-2594 BS_SGS26NXP G G c.431G>A p.Arg144Gln p.R144Q ENST00000357799 5/9 80 49 29 49 47 0 SGO2,missense_variant,p.Arg144Gln,ENST00000357799,NM_001160046.1,NM_001160033.1,NM_152524.5;SGO2,missense_variant,p.Arg144Gln,ENST00000409203,;SGO2,non_coding_transcript_exon_variant,,ENST00000469840,;SGO2,non_coding_transcript_exon_variant,,ENST00000488636,; A ENSG00000163535 ENST00000357799 Transcript missense_variant 529/4214 431/3798 144/1265 R/Q cGa/cAa rs780168754,COSM1404401 1 1 SGO2 HGNC HGNC:30812 protein_coding YES CCDS42796.1 ENSP00000350447 Q562F6 UPI00001AEBF5 NM_001160046.1,NM_001160033.1,NM_152524.5 tolerated(0.08) benign(0.013) 5/9 hmmpanther:PTHR21577,hmmpanther:PTHR21577:SF5 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 8.134e-06 5.959e-05 200542622 MAP2 . GRCh38 chr2 209693893 209693893 + Missense_Mutation SNP A A G novel 7316-2594 BS_SGS26NXP A A c.1723A>G p.Thr575Ala p.T575A ENST00000360351 7/15 66 46 18 39 39 0 MAP2,missense_variant,p.Thr575Ala,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Thr571Ala,ENST00000447185,;MAP2,intron_variant,,ENST00000199940,NM_031847.2,NM_001039538.1;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000481649,; G ENSG00000078018 ENST00000360351 Transcript missense_variant 2229/9711 1723/5484 575/1827 T/A Aca/Gca 1 1 MAP2 HGNC HGNC:6839 protein_coding YES CCDS2384.1 ENSP00000353508 P11137 A0A024R407 UPI000013D119 NM_002374.3 deleterious(0) probably_damaging(0.998) 7/15 Pfam_domain:PF08377,hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15 MODERATE 1 SNV 5 PASS AAC . . 209693893 LINC00607 . GRCh38 chr2 215621354 215621354 + Splice_Region DEL A A - rs1171963580 7316-2594 BS_SGS26NXP A A n.924-4del ENST00000445174 71 35 21 35 29 0 LINC00607,splice_region_variant,,ENST00000445174,;AC012668.3,intron_variant,,ENST00000417485,;AC012668.3,intron_variant,,ENST00000422353,;LINC00607,intron_variant,,ENST00000423530,;LINC00607,downstream_gene_variant,,ENST00000413563,;LINC00607,upstream_gene_variant,,ENST00000419922,; - ENSG00000235770 ENST00000445174 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1171963580 1 -1 LINC00607 HGNC HGNC:43944 lincRNA YES 7/9 LOW 1 deletion 2 PASS TTAA . . 215621353 CFAP65 . GRCh38 chr2 219019593 219019593 + Missense_Mutation SNP C C T rs769948608 7316-2594 BS_SGS26NXP C C c.3386G>A p.Arg1129His p.R1129H ENST00000341552 20/35 63 41 21 41 41 0 CFAP65,missense_variant,p.Arg1129His,ENST00000341552,NM_194302.3;CFAP65,missense_variant,p.Arg1129His,ENST00000453220,;CFAP65,missense_variant,p.Arg38His,ENST00000413871,;AC097468.1,downstream_gene_variant,,ENST00000441450,; T ENSG00000181378 ENST00000341552 Transcript missense_variant 3470/5953 3386/5778 1129/1925 R/H cGc/cAc rs769948608 1 -1 CFAP65 HGNC HGNC:25325 protein_coding YES CCDS2430.2 ENSP00000340776 Q6ZU64 UPI0000609097 NM_194302.3 tolerated(0.28) benign(0.025) 20/35 hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF223 MODERATE SNV 5 PASS GCG . . 2.033e-05 8.937e-05 5.801e-05 8.974e-06 219019593 FARP2 . GRCh38 chr2 241475910 241475910 + Missense_Mutation SNP C T T rs61740951 7316-2594 BS_SGS26NXP C C c.2185C>T p.Arg729Trp p.R729W ENST00000264042 19/27 40 12 28 33 33 0 FARP2,missense_variant,p.Arg729Trp,ENST00000264042,NM_014808.3;MIR3133,upstream_gene_variant,,ENST00000583157,;FARP2,non_coding_transcript_exon_variant,,ENST00000491425,;AC005104.2,upstream_gene_variant,,ENST00000427818,; T ENSG00000006607 ENST00000264042 Transcript missense_variant 2355/4051 2185/3165 729/1054 R/W Cgg/Tgg rs61740951 1 1 FARP2 HGNC HGNC:16460 protein_coding YES CCDS33424.1 ENSP00000264042 O94887 UPI0000073D5B NM_014808.3 deleterious(0.02) probably_damaging(0.952) 19/27 Gene3D:1.20.900.10,Superfamily_domains:SSF48065,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF58 0.0184 0.0643 0.0101 0.05674 0.0003488 MODERATE 1 SNV 1 PASS CCG . . 0.004102 0.05845 0.002563 5.8e-05 7.174e-05 0.003107 0.00013 241475910 SSUH2 . GRCh38 chr3 8635811 8635811 + Frame_Shift_Del DEL G G - rs899000095 7316-2594 BS_SGS26NXP G G c.75del p.Thr26GlnfsTer49 p.T26Qfs*49 ENST00000544814 2/12 81 69 8 50 50 0 SSUH2,frameshift_variant,p.Thr26GlnfsTer49,ENST00000544814,NM_001256748.1;SSUH2,frameshift_variant,p.Thr26GlnfsTer49,ENST00000427408,;SSUH2,5_prime_UTR_variant,,ENST00000317371,;SSUH2,5_prime_UTR_variant,,ENST00000341795,NM_001256749.1,NM_015931.2;SSUH2,non_coding_transcript_exon_variant,,ENST00000484585,;SSUH2,non_coding_transcript_exon_variant,,ENST00000466215,;SSUH2,non_coding_transcript_exon_variant,,ENST00000483845,;SSUH2,upstream_gene_variant,,ENST00000492435,;SSUH2,frameshift_variant,p.Thr26GlnfsTer147,ENST00000413305,;SSUH2,3_prime_UTR_variant,,ENST00000455157,;SSUH2,3_prime_UTR_variant,,ENST00000435138,;SSUH2,5_prime_UTR_variant,,ENST00000415132,;SSUH2,5_prime_UTR_variant,,ENST00000420394,;SSUH2,non_coding_transcript_exon_variant,,ENST00000495366,; - ENSG00000125046 ENST00000544814 Transcript frameshift_variant 115/1636 75/1128 25/375 P/X ccC/cc rs899000095 1 -1 SSUH2 HGNC HGNC:24809 protein_coding YES CCDS58815.1 ENSP00000439378 Q9Y2M2 UPI000206527B NM_001256748.1 2/12 hmmpanther:PTHR15852,hmmpanther:PTHR15852:SF7 HIGH 1 deletion 2 1 PASS GTGG . . 8635810 PDCD6IP . GRCh38 chr3 33865244 33865244 + Missense_Mutation SNP C C A novel 7316-2594 BS_SGS26NXP C C c.2261C>A p.Pro754His p.P754H ENST00000457054 17/18 70 48 21 52 52 0 PDCD6IP,missense_variant,p.Pro749His,ENST00000307296,NM_013374.5;PDCD6IP,missense_variant,p.Pro754His,ENST00000457054,NM_001162429.2;PDCD6IP,splice_region_variant,,ENST00000489869,;PDCD6IP,splice_region_variant,,ENST00000473593,;PDCD6IP,downstream_gene_variant,,ENST00000465122,; A ENSG00000170248 ENST00000457054 Transcript missense_variant,splice_region_variant 2419/5962 2261/2622 754/873 P/H cCt/cAt 1 1 PDCD6IP HGNC HGNC:8766 protein_coding YES CCDS54561.1 ENSP00000411825 Q8WUM4 UPI00004121D3 NM_001162429.2 tolerated(0.1) benign(0.436) 17/18 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23030,hmmpanther:PTHR23030:SF22 MODERATE 1 SNV 1 PASS CCT . . 33865244 SCN5A . GRCh38 chr3 38550833 38550833 + Missense_Mutation SNP G G A rs768246863 7316-2594 BS_SGS26NXP G G c.5539C>T p.Arg1847Cys p.R1847C ENST00000413689 28/28 65 35 28 40 40 0 SCN5A,missense_variant,p.Arg1847Cys,ENST00000413689,NM_001099404.1;SCN5A,missense_variant,p.Arg1847Cys,ENST00000333535,NM_198056.2;SCN5A,missense_variant,p.Arg1829Cys,ENST00000425664,NM_001099405.1,NM_001354701.1;SCN5A,missense_variant,p.Arg1846Cys,ENST00000423572,NM_000335.4;SCN5A,missense_variant,p.Arg1793Cys,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.Arg1829Cys,ENST00000414099,;SCN5A,missense_variant,p.Arg1814Cys,ENST00000455624,NM_001160160.1;SCN5A,missense_variant,p.Arg1793Cys,ENST00000450102,;SCN5A,missense_variant,p.Arg1793Cys,ENST00000449557,;SCN5A,downstream_gene_variant,,ENST00000464652,; A ENSG00000183873 ENST00000413689 Transcript missense_variant 5733/8504 5539/6051 1847/2016 R/C Cgc/Tgc rs768246863 1 -1 SCN5A HGNC HGNC:10593 protein_coding YES CCDS46799.1 ENSP00000410257 H9KVD2 UPI0001572CC8 NM_001099404.1 deleterious(0) probably_damaging(0.999) 28/28 Gene3D:1.10.238.10,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF206 uncertain_significance MODERATE 1 SNV 5 1 1 PASS CGG . . 1.625e-05 2.978e-05 5.798e-05 1.79e-05 38550833 KIF15 . GRCh38 chr3 44848064 44848064 + Splice_Region DEL T T - rs750550927 7316-2594 BS_SGS26NXP T T c.3768+15del ENST00000326047 110 60 42 44 40 0 KIF15,splice_region_variant,,ENST00000326047,NM_020242.2;KIF15,splice_region_variant,,ENST00000425755,;KIF15,splice_region_variant,,ENST00000422209,;KIF15,splice_region_variant,,ENST00000438321,;KIF15,splice_region_variant,,ENST00000453693,; - ENSG00000163808 ENST00000326047 Transcript splice_region_variant,intron_variant rs750550927,COSM1642269 1 1 KIF15 HGNC HGNC:17273 protein_coding YES CCDS33744.1 ENSP00000324020 Q9NS87 UPI000006DB0E NM_020242.2 31/34 0,1 LOW 1 deletion 1 8 0,1 1 PASS GATT . . 0.0001067 0.0002098 0.0001037 0.0004479 6.703e-05 0.0001503 44848063 HYAL1 . GRCh38 chr3 50309784 50309784 + Splice_Region DEL A A - rs1257328237 7316-2594 BS_SGS26NXP A A c.-309-7del ENST00000320295 59 30 22 43 38 0 HYAL1,splice_region_variant,,ENST00000320295,NM_153281.1; - ENSG00000114378 ENST00000320295 Transcript splice_region_variant,intron_variant rs1257328237 1 -1 HYAL1 HGNC HGNC:5320 protein_coding CCDS2816.1 ENSP00000346068 Q12794 A0A024R2X3 UPI000003FD9D NM_153281.1 1/5 LOW 1 deletion 2 1 PASS TCAA . . 50309783 KBTBD8 . GRCh38 chr3 67004243 67004243 + Missense_Mutation SNP G G A rs930738727 7316-2594 BS_SGS26NXP G G c.1276G>A p.Ala426Thr p.A426T ENST00000417314 3/4 66 38 28 47 47 0 KBTBD8,missense_variant,p.Ala426Thr,ENST00000417314,NM_032505.2;KBTBD8,intron_variant,,ENST00000460576,;KBTBD8,downstream_gene_variant,,ENST00000460784,;KBTBD8,downstream_gene_variant,,ENST00000484414,;KBTBD8,downstream_gene_variant,,ENST00000469661,; A ENSG00000163376 ENST00000417314 Transcript missense_variant 1325/4680 1276/1806 426/601 A/T Gcg/Acg rs930738727,COSM6165215,COSM6165214 1 1 KBTBD8 HGNC HGNC:30691 protein_coding YES CCDS2906.2 ENSP00000401878 Q8NFY9 UPI0000209974 NM_032505.2 deleterious(0.01) benign(0.12) 3/4 hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF388,PIRSF_domain:PIRSF037037,Gene3D:2.120.10.80,SMART_domains:SM00612,Superfamily_domains:SSF117281 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CGC . . 1.633e-05 5.798e-05 2.717e-05 67004243 UBA3 . GRCh38 chr3 69061934 69061934 + Splice_Region DEL A A - rs778406318 7316-2594 BS_SGS26NXP A A c.797-7del ENST00000361055 82 34 37 42 39 0 UBA3,splice_region_variant,,ENST00000349511,NM_198195.1;UBA3,splice_region_variant,,ENST00000361055,NM_003968.3;UBA3,splice_region_variant,,ENST00000415609,;UBA3,downstream_gene_variant,,ENST00000630585,;UBA3,splice_region_variant,,ENST00000461522,;UBA3,splice_region_variant,,ENST00000461934,;UBA3,splice_region_variant,,ENST00000465627,; - ENSG00000144744 ENST00000361055 Transcript splice_region_variant,intron_variant rs778406318,COSM1180962 1 -1 UBA3 HGNC HGNC:12470 protein_coding YES CCDS2909.1 ENSP00000354340 Q8TBC4 UPI00001E058C NM_003968.3 10/17 0,1 LOW 1 deletion 1 0,1 PASS TTAA . . 0.1025 0.06285 0.1533 0.1797 0.09343 0.07199 0.08713 0.1238 0.1682 69061933 CSNKA2IP . GRCh38 chr3 88467155 88467155 + Frame_Shift_Del DEL A A - rs1179051351 7316-2594 BS_SGS26NXP A A c.1805del p.Asn602IlefsTer58 p.N602Ifs*58 ENST00000637986 2/2 64 38 20 41 38 0 CSNKA2IP,frameshift_variant,p.Asn602IlefsTer58,ENST00000637986,;CSNKA2IP,downstream_gene_variant,,ENST00000635844,;CSNKA2IP,downstream_gene_variant,,ENST00000636323,;CSNKA2IP,downstream_gene_variant,,ENST00000638109,; - ENSG00000283434 ENST00000637986 Transcript frameshift_variant 2299/2706 1798/2205 600/734 K/X Aaa/aa rs1179051351 1 1 CSNKA2IP HGNC HGNC:53637 protein_coding YES ENSP00000489704 A0A1B0GTH6 UPI0005D01EE5 2/2 hmmpanther:PTHR35825 HIGH 1 deletion 4 7 PASS TTAA . . 88467154 OR5K3 . GRCh38 chr3 98390711 98390711 + Nonsense_Mutation SNP G G T novel 7316-2594 BS_SGS26NXP G G c.46G>T p.Gly16Ter p.G16* ENST00000383695 1/1 87 50 35 51 51 0 OR5K3,stop_gained,p.Gly16Ter,ENST00000383695,NM_001005516.1;AC117473.1,intron_variant,,ENST00000508616,; T ENSG00000206536 ENST00000383695 Transcript stop_gained 46/966 46/966 16/321 G/* Gga/Tga 1 1 OR5K3 HGNC HGNC:31290 protein_coding YES CCDS33803.1 ENSP00000373194 A6NET4 UPI000044D40F NM_001005516.1 1/1 hmmpanther:PTHR26452:SF696,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 HIGH SNV PASS AGG . . 98390711 CMSS1 . GRCh38 chr3 100160440 100160441 + Frame_Shift_Ins INS - - T novel 7316-2594 BS_SGS26NXP - - c.170dup p.Leu57PhefsTer24 p.L57Ffs*24 ENST00000421999 3/10 107 58 45 51 45 0 CMSS1,frameshift_variant,p.Leu57PhefsTer24,ENST00000421999,NM_032359.3;CMSS1,frameshift_variant,p.Leu39PhefsTer24,ENST00000489081,NM_001167924.1;CMSS1,frameshift_variant,p.Leu13PhefsTer24,ENST00000478909,;CMSS1,frameshift_variant,p.Leu23PhefsTer?,ENST00000463526,;CMSS1,upstream_gene_variant,,ENST00000497345,;CMSS1,3_prime_UTR_variant,,ENST00000491299,;,regulatory_region_variant,,ENSR00000155601,; T ENSG00000184220 ENST00000421999 Transcript frameshift_variant 310-311/4330 164-165/840 55/279 C/CX tgt/tgTt 1 1 CMSS1 HGNC HGNC:28666 protein_coding YES CCDS2935.1 ENSP00000410396 Q9BQ75 UPI00001B0297 NM_032359.3 3/10 mobidb-lite,hmmpanther:PTHR24030 HIGH 1 insertion 1 6 PASS TGT . . 100160440 USF3 . GRCh38 chr3 113658635 113658635 + Frame_Shift_Del DEL T T - rs762604668 7316-2594 BS_SGS26NXP T T c.3047del p.Asn1016ThrfsTer23 p.N1016Tfs*23 ENST00000316407 7/7 73 36 30 43 40 0 USF3,frameshift_variant,p.Asn1016ThrfsTer23,ENST00000316407,NM_001009899.3;USF3,frameshift_variant,p.Asn1016ThrfsTer23,ENST00000478658,;USF3,intron_variant,,ENST00000491165,;USF3,non_coding_transcript_exon_variant,,ENST00000496826,; - ENSG00000176542 ENST00000316407 Transcript frameshift_variant 3458/13708 3047/6738 1016/2245 N/X aAc/ac rs762604668,COSM111504 1 -1 USF3 HGNC HGNC:30494 protein_coding YES CCDS43133.1 ENSP00000320794 Q68DE3 UPI0004438052 NM_001009899.3 7/7 hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF2,mobidb-lite 0,1 HIGH 1 deletion 5 0,1 PASS GGTT . . 0.01317 0.007262 0.01271 0.01414 0.008065 0.01501 0.01243 0.01613 0.02122 113658634 TPRA1 . GRCh38 chr3 127576899 127576899 + Splice_Region SNP C C T rs372317270 7316-2594 BS_SGS26NXP C C c.346-6G>A ENST00000355552 74 51 22 43 43 0 TPRA1,splice_region_variant,,ENST00000296210,NM_001142646.2;TPRA1,splice_region_variant,,ENST00000355552,NM_001136053.2;TPRA1,splice_region_variant,,ENST00000450633,;TPRA1,splice_region_variant,,ENST00000469111,;TPRA1,splice_region_variant,,ENST00000489960,;TPRA1,splice_region_variant,,ENST00000490290,;TPRA1,splice_region_variant,,ENST00000490643,;TPRA1,downstream_gene_variant,,ENST00000462228,;MIR6825,upstream_gene_variant,,ENST00000618505,;TPRA1,upstream_gene_variant,,ENST00000465915,;TPRA1,splice_region_variant,,ENST00000393400,;TPRA1,splice_region_variant,,ENST00000483868,; T ENSG00000163870 ENST00000355552 Transcript splice_region_variant,intron_variant rs372317270,COSM5491711 1 -1 TPRA1 HGNC HGNC:30413 protein_coding YES CCDS3042.1 ENSP00000347748 Q86W33 UPI00000373F2 NM_001136053.2 4/10 0,1 LOW 1 SNV 1 0,1 PASS ACG . . 2.44e-05 8.935e-05 4.49e-05 8.97e-06 0.0001828 127576899 ACAD11 . GRCh38 chr3 132618664 132618665 + Frame_Shift_Ins INS - - A novel 7316-2594 BS_SGS26NXP - - c.1383dup p.Ala462CysfsTer6 p.A462Cfs*6 ENST00000264990 11/20 95 42 43 28 27 0 ACAD11,frameshift_variant,p.Ala462CysfsTer6,ENST00000264990,NM_032169.4;ACAD11,frameshift_variant,p.Ala462CysfsTer6,ENST00000481970,;ACAD11,non_coding_transcript_exon_variant,,ENST00000507705,;ACAD11,frameshift_variant,p.Ala20CysfsTer6,ENST00000510100,;NPHP3-ACAD11,3_prime_UTR_variant,,ENST00000471702,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;ACAD11,non_coding_transcript_exon_variant,,ENST00000487024,;ACAD11,intron_variant,,ENST00000485198,;ACKR4,intron_variant,,ENST00000509820,; A ENSG00000240303 ENST00000264990 Transcript frameshift_variant 2355-2356/4142 1383-1384/2343 461-462/780 -/X -/T 1 -1 ACAD11 HGNC HGNC:30211 protein_coding YES CCDS3074.1 ENSP00000264990 Q709F0 UPI0000223E4E NM_032169.4 11/20 cd01155,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF371,Gene3D:1.10.540.10,Pfam_domain:PF02771,Superfamily_domains:SSF56645 HIGH 1 insertion 1 PASS GCA . . 132618664 IGSF10 . GRCh38 chr3 151445513 151445513 + Missense_Mutation SNP C C T rs201186884 7316-2594 BS_SGS26NXP C C c.4468G>A p.Val1490Met p.V1490M ENST00000282466 4/6 71 49 20 48 48 0 IGSF10,missense_variant,p.Val1490Met,ENST00000282466,NM_178822.4;IGSF10,upstream_gene_variant,,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000493841,NM_001178146.1;IGSF10,upstream_gene_variant,,ENST00000495443,NM_001178145.1;,regulatory_region_variant,,ENSR00000160248,; T ENSG00000152580 ENST00000282466 Transcript missense_variant 4468/11067 4468/7872 1490/2623 V/M Gtg/Atg rs201186884 1 -1 IGSF10 HGNC HGNC:26384 protein_coding YES CCDS3160.1 ENSP00000282466 Q6WRI0 UPI00001D629A NM_178822.4 tolerated(0.38) benign(0.001) 4/6 hmmpanther:PTHR45103 0.0002326 MODERATE 1 SNV 1 PASS ACG . . 0.0002439 0.0002979 0.0001016 0.0004058 0.0002153 0.0009117 0.0004224 151445513 DHX36 . GRCh38 chr3 154289830 154289830 + Splice_Region DEL A A - rs149380968 7316-2594 BS_SGS26NXP A A c.1815-4del ENST00000496811 86 39 28 39 37 0 DHX36,splice_region_variant,,ENST00000308361,;DHX36,splice_region_variant,,ENST00000329463,NM_001114397.1;DHX36,splice_region_variant,,ENST00000469977,;DHX36,splice_region_variant,,ENST00000481941,;DHX36,splice_region_variant,,ENST00000496811,NM_020865.2;DHX36,splice_region_variant,,ENST00000481332,;DHX36,upstream_gene_variant,,ENST00000479934,; - ENSG00000174953 ENST00000496811 Transcript splice_region_variant,intron_variant rs149380968,TMP_ESP_3_154007619_154007619,COSM5518480,COSM1180946 1 -1 DHX36 HGNC HGNC:14410 protein_coding YES CCDS3171.1 ENSP00000417078 Q9H2U1 UPI000013ED25 NM_020865.2 15/24 0.02441 0.01806 0,0,1,1 LOW 1 deletion 1 0,0,1,1 PASS TTAA . . 0.001499 0.0006348 0.002344 0.001356 0.001974 0.00116 0.001347 0.00228 0.002019 154289829 KPNA4 . GRCh38 chr3 160530945 160530945 + Splice_Region DEL A A - rs758970603 7316-2594 BS_SGS26NXP A A c.384-5del ENST00000334256 70 39 21 52 47 0 KPNA4,splice_region_variant,,ENST00000334256,NM_002268.4; - ENSG00000186432 ENST00000334256 Transcript splice_region_variant,intron_variant rs758970603,COSM1642160 1 -1 KPNA4 HGNC HGNC:6397 protein_coding YES CCDS3191.1 ENSP00000334373 O00629 UPI0000001648 NM_002268.4 6/16 0,1 LOW 1 deletion 1 0,1 PASS ACAA . . 0.0002707 0.0005557 0.0005641 0.0002548 0.0004682 0.0001469 0.0004748 0.0004429 160530944 MUC4 . GRCh38 chr3 195780193 195780193 + Missense_Mutation SNP G G C 7316-2594 BS_SGS26NXP G G c.11387C>G p.Thr3796Ser p.T3796S ENST00000463781 2/25 64 50 11 40 39 0 MUC4,missense_variant,p.Thr3796Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr3796Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr3796Ser,ENST00000478156,;MUC4,missense_variant,p.Thr3796Ser,ENST00000466475,;MUC4,missense_variant,p.Thr3796Ser,ENST00000477756,;MUC4,missense_variant,p.Thr3796Ser,ENST00000477086,;MUC4,missense_variant,p.Thr3796Ser,ENST00000480843,;MUC4,missense_variant,p.Thr3796Ser,ENST00000462323,;MUC4,missense_variant,p.Thr3796Ser,ENST00000470451,;MUC4,missense_variant,p.Thr3796Ser,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 11847/17110 11387/16239 3796/5412 T/S aCc/aGc COSM1042850 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.02) probably_damaging(0.933) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS GGT . . 195780193 FGFRL1 . GRCh38 chr4 1025267 1025268 + Frame_Shift_Del DEL CA CA - rs145808953 7316-2594 BS_SGS26NXP CA CA c.1454_1455del p.His485LeufsTer66 p.H485Lfs*66 ENST00000398484 8/8 63 48 8 29 26 0 FGFRL1,frameshift_variant,p.His485LeufsTer66,ENST00000398484,;FGFRL1,frameshift_variant,p.His485LeufsTer66,ENST00000264748,NM_021923.3,NM_001004358.1;FGFRL1,frameshift_variant,p.His485LeufsTer66,ENST00000510644,NM_001004356.2;FGFRL1,frameshift_variant,p.His485LeufsTer?,ENST00000504138,;FGFRL1,downstream_gene_variant,,ENST00000507339,;FGFRL1,downstream_gene_variant,,ENST00000512174,;AC019103.1,upstream_gene_variant,,ENST00000503095,; - ENSG00000127418 ENST00000398484 Transcript frameshift_variant 2015-2016/3639 1435-1436/1515 479/504 H/X CAc/c rs145808953,TMP_ESP_4_1019055_1019058,COSM4765008,COSM1173009 1 1 FGFRL1 HGNC HGNC:3693 protein_coding YES CCDS3344.1 ENSP00000381498 Q8N441 UPI000003ED0B 8/8 hmmpanther:PTHR19890,hmmpanther:PTHR19890:SF10,Low_complexity_(Seg):seg 0.239 0.2557 0,0,1,1 HIGH deletion 5 19 0,0,1,1 1 PASS TCCAC . . 0.1023 0.09077 0.07453 0.1133 0.0901 0.08662 0.1174 0.09337 0.1023 1025266 NSG1 . GRCh38 chr4 4387717 4387717 + Frame_Shift_Del DEL C C - novel 7316-2594 BS_SGS26NXP C C c.91del p.Leu31SerfsTer16 p.L31Sfs*16 ENST00000421177 6/9 75 65 7 46 46 0 NSG1,frameshift_variant,p.Leu31SerfsTer16,ENST00000421177,;NSG1,frameshift_variant,p.Leu31SerfsTer16,ENST00000513555,;NSG1,frameshift_variant,p.Leu31SerfsTer16,ENST00000397958,NM_001287763.1;NSG1,frameshift_variant,p.Leu31SerfsTer16,ENST00000433139,NM_001287764.1,NM_001040101.1;NSG1,frameshift_variant,p.Leu31SerfsTer16,ENST00000621129,NM_014392.4;NSG1,frameshift_variant,p.Leu31SerfsTer78,ENST00000504171,;NSG1,frameshift_variant,p.Leu31SerfsTer16,ENST00000505246,;NSG1,frameshift_variant,p.Leu31SerfsTer16,ENST00000506380,;NSG1,frameshift_variant,p.Leu31SerfsTer16,ENST00000513829,;NSG1,downstream_gene_variant,,ENST00000504347,; - ENSG00000168824 ENST00000421177 Transcript frameshift_variant 2079/4172 88/558 30/185 P/X Ccc/cc 1 1 NSG1 HGNC HGNC:18790 protein_coding YES CCDS3376.1 ENSP00000388823 P42857 B2R5R8 UPI0000130549 6/9 Pfam_domain:PF06387,PIRSF_domain:PIRSF002383,hmmpanther:PTHR28546,hmmpanther:PTHR28546:SF3 HIGH 1 deletion 5 3 PASS CGCC . . 4387716 ADGRA3 . GRCh38 chr4 22392601 22392601 + Frame_Shift_Del DEL T T - novel 7316-2594 BS_SGS26NXP T T c.2571del p.Ala858LeufsTer22 p.A858Lfs*22 ENST00000334304 17/19 94 46 38 54 50 0 ADGRA3,frameshift_variant,p.Ala858LeufsTer22,ENST00000334304,NM_145290.3;ADGRA3,non_coding_transcript_exon_variant,,ENST00000282943,;ADGRA3,non_coding_transcript_exon_variant,,ENST00000504617,;ADGRA3,5_prime_UTR_variant,,ENST00000511051,;ADGRA3,non_coding_transcript_exon_variant,,ENST00000499527,; - ENSG00000152990 ENST00000334304 Transcript frameshift_variant 2841/4566 2571/3966 857/1321 K/X aaA/aa 1 -1 ADGRA3 HGNC HGNC:13839 protein_coding YES CCDS33964.1 ENSP00000334952 Q8IWK6 UPI00001D7735 NM_145290.3 17/19 Gene3D:1.20.1070.10,Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF35 HIGH 1 deletion 1 PASS GCTT . . 22392600 NFKB1 . GRCh38 chr4 102613584 102613584 + Splice_Region DEL A A - rs752853181 7316-2594 BS_SGS26NXP A A c.2749+11del ENST00000226574 57 25 27 41 39 0 NFKB1,splice_region_variant,,ENST00000226574,NM_003998.3;NFKB1,splice_region_variant,,ENST00000394820,NM_001165412.1;NFKB1,splice_region_variant,,ENST00000505458,NM_001319226.1;NFKB1,splice_region_variant,,ENST00000600343,; - ENSG00000109320 ENST00000226574 Transcript splice_region_variant,intron_variant rs752853181 1 1 NFKB1 HGNC HGNC:7794 protein_coding YES CCDS3657.1 ENSP00000226574 P19838 UPI0000192724 NM_003998.3 23/23 LOW 1 deletion 1 8 1 PASS GTAA . . 0.0002923 0.0002207 0.0004376 0.0004882 0.000204 0.0002684 0.0004277 0.0004654 102613583 ANK2 . GRCh38 chr4 113355460 113355460 + Missense_Mutation SNP C C T rs757584252 7316-2594 BS_SGS26NXP C C c.6842C>T p.Thr2281Met p.T2281M ENST00000357077 38/46 81 53 26 42 40 0 ANK2,missense_variant,p.Thr2281Met,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Thr2248Met,ENST00000264366,;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1,NM_001354237.1,NM_001354252.1;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000514960,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,upstream_gene_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;,regulatory_region_variant,,ENSR00000172147,; T ENSG00000145362 ENST00000357077 Transcript missense_variant 6895/14196 6842/11874 2281/3957 T/M aCg/aTg rs757584252 1 1 ANK2 HGNC HGNC:493 protein_coding YES CCDS3702.1 ENSP00000349588 Q01484 UPI0000441EF3 NM_001148.4 tolerated_low_confidence(0.11) benign(0.111) 38/46 mobidb-lite,hmmpanther:PTHR45340 MODERATE 1 SNV 1 1 PASS ACG . . 1.235e-05 0.0001029 9.147e-06 3.253e-05 113355460 PCDH10 . GRCh38 chr4 133150493 133150494 + Frame_Shift_Ins INS - - C rs759095467 7316-2594 BS_SGS26NXP - - c.360dup p.Ser121LeufsTer13 p.S121Lfs*13 ENST00000264360 1/5 51 30 16 33 31 1 PCDH10,frameshift_variant,p.Ser121LeufsTer13,ENST00000264360,NM_032961.2;PCDH10,frameshift_variant,p.Ser121LeufsTer13,ENST00000618019,NM_020815.2;AC105383.1,upstream_gene_variant,,ENST00000505289,;AC105383.1,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,; C ENSG00000138650 ENST00000264360 Transcript frameshift_variant 1179-1180/8489 353-354/3123 118/1040 N/NX aac/aaCc rs759095467 1 1 PCDH10 HGNC HGNC:13404 protein_coding YES CCDS34063.1 ENSP00000264360 Q9P2E7 X5D999 UPI0000161C61 NM_032961.2 1/5 Gene3D:2.60.350.10,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF0,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 HIGH 1 insertion 1 7 PASS AAC . . 133150493 SNX25 . GRCh38 chr4 185339424 185339424 + Missense_Mutation SNP C C T rs201549191 7316-2594 BS_SGS26NXP C C c.1468C>T p.Arg490Cys p.R490C ENST00000504273 11/19 80 47 33 41 41 0 SNX25,missense_variant,p.Arg490Cys,ENST00000504273,NM_001317781.1;SNX25,missense_variant,p.Arg490Cys,ENST00000264694,;SNX25,missense_variant,p.Arg261Cys,ENST00000618785,;SNX25,non_coding_transcript_exon_variant,,ENST00000512853,;SNX25,3_prime_UTR_variant,,ENST00000504959,; T ENSG00000109762 ENST00000504273 Transcript missense_variant 1762/3323 1468/2523 490/840 R/C Cgc/Tgc rs201549191,COSM4728829 1 1 SNX25 HGNC HGNC:21883 protein_coding YES CCDS34116.1 ENSP00000426255 Q9H3E2 UPI000020B7BB NM_001317781.1 deleterious(0.04) benign(0) 11/19 Gene3D:3.30.1520.10,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF29 0.0004 0.001 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 6.502e-05 5.958e-05 0.0001016 5.799e-05 3.585e-05 0.0001825 0.0002274 185339424 FAM149A . GRCh38 chr4 186157661 186157661 + Missense_Mutation SNP C C T rs138151397 7316-2594 BS_SGS26NXP C C c.671C>T p.Pro224Leu p.P224L ENST00000227065 8/14 65 58 6 40 40 0 FAM149A,missense_variant,p.Pro515Leu,ENST00000356371,;FAM149A,missense_variant,p.Pro224Leu,ENST00000227065,NM_001006655.2,NM_015398.2;FAM149A,missense_variant,p.Pro224Leu,ENST00000514153,;FAM149A,missense_variant,p.Pro224Leu,ENST00000503432,;FAM149A,missense_variant,p.Pro224Leu,ENST00000502970,;FAM149A,missense_variant,p.Pro224Leu,ENST00000389354,;FAM149A,downstream_gene_variant,,ENST00000504330,;FAM149A,downstream_gene_variant,,ENST00000509574,;FAM149A,downstream_gene_variant,,ENST00000510790,;FAM149A,non_coding_transcript_exon_variant,,ENST00000514829,;FAM149A,non_coding_transcript_exon_variant,,ENST00000513030,;FAM149A,non_coding_transcript_exon_variant,,ENST00000515078,;RPSAP70,upstream_gene_variant,,ENST00000504462,; T ENSG00000109794 ENST00000227065 Transcript missense_variant 1250/2708 671/1449 224/482 P/L cCg/cTg rs138151397,COSM3357796,COSM1695306 1 1 FAM149A HGNC HGNC:24527 protein_coding YES CCDS34117.1 ENSP00000227065 A5PLN7 UPI00001C1E1F NM_001006655.2,NM_015398.2 tolerated(0.39) benign(0.031) 8/14 hmmpanther:PTHR31997,hmmpanther:PTHR31997:SF2 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCG . . 8.128e-05 6.538e-05 0.0001161 3.584e-05 0.0004226 186157661 ROPN1L . GRCh38 chr5 10461283 10461283 + Missense_Mutation SNP C C T rs145787281 7316-2594 BS_SGS26NXP C C c.517C>T p.Arg173Cys p.R173C ENST00000503804 5/6 60 51 7 43 41 0 ROPN1L,missense_variant,p.Arg173Cys,ENST00000503804,;ROPN1L,missense_variant,p.Arg173Cys,ENST00000274134,NM_031916.4,NM_001201466.1;ROPN1L,non_coding_transcript_exon_variant,,ENST00000510520,;ROPN1L,non_coding_transcript_exon_variant,,ENST00000512022,;ROPN1L,non_coding_transcript_exon_variant,,ENST00000515762,; T ENSG00000145491 ENST00000503804 Transcript missense_variant 1038/1291 517/693 173/230 R/C Cgc/Tgc rs145787281,COSM1432034 1 1 ROPN1L HGNC HGNC:24060 protein_coding YES CCDS3879.1 ENSP00000421405 Q96C74 UPI000013D9F3 tolerated(0.07) benign(0.224) 5/6 hmmpanther:PTHR14952,hmmpanther:PTHR14952:SF14 0.0004539 0.0002326 0,1 MODERATE 1 SNV 2 0,1 PASS CCG . . 5.279e-05 0.000196 2.978e-05 8.056e-05 10461283 ADAMTS12 . GRCh38 chr5 33549325 33549325 + Missense_Mutation SNP C C T rs147732973 7316-2594 BS_SGS26NXP C C c.4184G>A p.Arg1395Gln p.R1395Q ENST00000504830 21/24 81 46 32 36 36 0 ADAMTS12,missense_variant,p.Arg1395Gln,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Arg1310Gln,ENST00000352040,; T ENSG00000151388 ENST00000504830 Transcript missense_variant 4520/8774 4184/4785 1395/1594 R/Q cGg/cAg rs147732973,COSM1283267 1 -1 ADAMTS12 HGNC HGNC:14605 protein_coding YES CCDS34140.1 ENSP00000422554 P58397 UPI000013DC51 NM_030955.2 tolerated(0.26) benign(0.003) 21/24 hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895 0.0002 0.0014 0.000227 0.0002326 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 8.936e-05 0.0003574 7.164e-05 0.0003648 33549325 SPEF2 . GRCh38 chr5 35659088 35659088 + Missense_Mutation SNP G G A rs770811953 7316-2594 BS_SGS26NXP G G c.1048G>A p.Val350Met p.V350M ENST00000356031 8/37 74 48 24 44 44 0 SPEF2,missense_variant,p.Val350Met,ENST00000637569,;SPEF2,missense_variant,p.Val350Met,ENST00000440995,;SPEF2,missense_variant,p.Val350Met,ENST00000356031,NM_024867.3;SPEF2,missense_variant,p.Val350Met,ENST00000509059,;SPEF2,missense_variant,p.Val350Met,ENST00000282469,NM_144722.3;SPEF2,downstream_gene_variant,,ENST00000510777,;SPEF2,non_coding_transcript_exon_variant,,ENST00000503074,;SPEF2,downstream_gene_variant,,ENST00000502454,; A ENSG00000152582 ENST00000356031 Transcript missense_variant 1202/5681 1048/5469 350/1822 V/M Gtg/Atg rs770811953,COSM395307,COSM395306 1 1 SPEF2 HGNC HGNC:26293 protein_coding YES CCDS43309.1 ENSP00000348314 Q9C093 A0A140VKD0 UPI0001505B9F NM_024867.3 deleterious(0) probably_damaging(0.997) 8/37 hmmpanther:PTHR14919 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGT . . 3.268e-05 0.0001315 6.053e-05 0.0001752 8.985e-06 35659088 RICTOR . GRCh38 chr5 38978657 38978657 + Splice_Region DEL A A - rs756295969 7316-2594 BS_SGS26NXP A A c.754-7del ENST00000296782 73 37 25 42 38 1 RICTOR,splice_region_variant,,ENST00000296782,NM_001285439.1;RICTOR,splice_region_variant,,ENST00000357387,NM_152756.4,NM_001285440.1;RICTOR,downstream_gene_variant,,ENST00000514735,;RICTOR,splice_region_variant,,ENST00000510711,;RICTOR,intron_variant,,ENST00000511516,;RICTOR,downstream_gene_variant,,ENST00000513566,; - ENSG00000164327 ENST00000296782 Transcript splice_region_variant,intron_variant rs756295969,TMP_ESP_5_38978759_38978759,COSM6861062,COSM6861061 1 -1 RICTOR HGNC HGNC:28611 protein_coding YES CCDS68861.1 ENSP00000296782 Q6R327 UPI0000EE67F5 NM_001285439.1 8/38 0.04347 0.04345 0,0,1,1 LOW 1 deletion 1 0,0,1,1 PASS TTAA . . 0.108 0.08143 0.1541 0.1612 0.1038 0.08178 0.09326 0.1337 0.1589 38978656 HTR1A . GRCh38 chr5 63960725 63960725 + Missense_Mutation SNP T T C novel 7316-2594 BS_SGS26NXP T T c.995A>G p.Lys332Arg p.K332R ENST00000323865 1/1 70 36 32 37 36 1 HTR1A,missense_variant,p.Lys332Arg,ENST00000323865,NM_000524.3;HTR1A,downstream_gene_variant,,ENST00000506598,;AC122707.1,intron_variant,,ENST00000502882,;,regulatory_region_variant,,ENSR00000315271,; C ENSG00000178394 ENST00000323865 Transcript missense_variant 1409/1778 995/1269 332/422 K/R aAg/aGg 1 -1 HTR1A HGNC HGNC:5286 protein_coding YES CCDS34168.1 ENSP00000316244 P08908 Q5ZGX3 UPI0000124F1A NM_000524.3 tolerated(0.18) benign(0.269) 1/1 Gene3D:1.20.1070.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00001,Prints_domain:PR00512,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20,SMART_domains:SM01381,Superfamily_domains:SSF81321,cd15330 MODERATE SNV 1 PASS CTT . . 63960725 TNPO1 . GRCh38 chr5 72888225 72888225 + Missense_Mutation SNP C C T rs140988378 7316-2594 BS_SGS26NXP C C c.1451C>T p.Thr484Met p.T484M ENST00000337273 13/25 62 38 23 37 37 0 TNPO1,missense_variant,p.Thr484Met,ENST00000337273,NM_002270.3;TNPO1,missense_variant,p.Thr476Met,ENST00000506351,NM_153188.2;TNPO1,missense_variant,p.Thr434Met,ENST00000523768,;TNPO1,downstream_gene_variant,,ENST00000505082,; T ENSG00000083312 ENST00000337273 Transcript missense_variant 1877/11183 1451/2697 484/898 T/M aCg/aTg rs140988378 1 1 TNPO1 HGNC HGNC:6401 protein_coding YES CCDS43329.1 ENSP00000336712 Q92973 A0A024RAM0 UPI000020CAB6 NM_002270.3 tolerated(0.2) benign(0) 13/25 Gene3D:1.25.10.10,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF21,Superfamily_domains:SSF48371 0.0002326 MODERATE 1 SNV 1 PASS ACG . . 8.944e-05 0.0001884 3.249e-05 72888225 NME5 . GRCh38 chr5 138115772 138115772 + Splice_Region DEL A A - rs757355457 7316-2594 BS_SGS26NXP A A c.556-8del ENST00000265191 84 41 32 37 35 1 NME5,splice_region_variant,,ENST00000265191,NM_003551.2;RNU6-460P,upstream_gene_variant,,ENST00000391158,;NME5,splice_region_variant,,ENST00000514481,;NME5,splice_region_variant,,ENST00000506657,; - ENSG00000112981 ENST00000265191 Transcript splice_region_variant,intron_variant rs757355457,TMP_ESP_5_137451461_137451461,COSM3236906 1 -1 NME5 HGNC HGNC:7853 protein_coding YES CCDS4197.1 ENSP00000265191 P56597 A0A0S2Z4L9 UPI000000129C NM_003551.2 5/5 0.09338 0.08786 0,0,1 LOW 1 deletion 1 0,0,1 PASS GGAA . . 0.04055 0.03132 0.05475 0.0481 0.03571 0.0454 0.03636 0.04947 0.04876 138115771 WDR55 . GRCh38 chr5 140669517 140669517 + Frame_Shift_Del DEL A A - rs746919573 7316-2594 BS_SGS26NXP A A c.1022del p.Lys341ArgfsTer8 p.K341Rfs*8 ENST00000358337 7/7 77 63 6 32 29 0 WDR55,frameshift_variant,p.Lys341ArgfsTer8,ENST00000358337,NM_017706.4;HARS,downstream_gene_variant,,ENST00000307633,NM_001258042.2;HARS,downstream_gene_variant,,ENST00000415192,NM_001289092.1;HARS,downstream_gene_variant,,ENST00000431330,NM_001289093.1;HARS,downstream_gene_variant,,ENST00000438307,NM_001258040.2;HARS,downstream_gene_variant,,ENST00000457527,NM_001258041.2;HARS,downstream_gene_variant,,ENST00000504156,NM_001289094.1,NM_002109.5;HARS,downstream_gene_variant,,ENST00000504366,;DND1,downstream_gene_variant,,ENST00000542735,NM_194249.2;HARS,downstream_gene_variant,,ENST00000644191,;WDR55,non_coding_transcript_exon_variant,,ENST00000520764,;WDR55,frameshift_variant,p.Lys180ArgfsTer8,ENST00000504897,;WDR55,3_prime_UTR_variant,,ENST00000506393,;WDR55,non_coding_transcript_exon_variant,,ENST00000511232,;HARS,downstream_gene_variant,,ENST00000509087,;HARS,downstream_gene_variant,,ENST00000512396,;HARS,downstream_gene_variant,,ENST00000643686,;HARS,downstream_gene_variant,,ENST00000645491,;HARS,downstream_gene_variant,,ENST00000646229,; - ENSG00000120314 ENST00000358337 Transcript frameshift_variant 1252/4080 1015/1152 339/383 K/X Aaa/aa rs746919573,COSM295363 1 1 WDR55 HGNC HGNC:25971 protein_coding YES CCDS4235.1 ENSP00000351100 Q9H6Y2 UPI000013F1EC NM_017706.4 7/7 Gene3D:2.130.10.10,PIRSF_domain:PIRSF038169,hmmpanther:PTHR44271 0,1 HIGH 1 deletion 1 7 0,1 PASS GCAA . . 4.16e-06 9.217e-06 140669516 HARS2 . GRCh38 chr5 140694011 140694011 + Missense_Mutation SNP G G A rs369075888 7316-2594 BS_SGS26NXP G G c.260G>A p.Arg87His p.R87H ENST00000230771 3/13 79 50 26 44 44 0 HARS2,missense_variant,p.Arg87His,ENST00000230771,NM_012208.3;HARS2,missense_variant,p.Arg17His,ENST00000643996,NM_001278732.1;HARS2,missense_variant,p.Arg93His,ENST00000646468,;HARS2,missense_variant,p.Arg87His,ENST00000642231,;HARS2,missense_variant,p.Arg17His,ENST00000642970,;HARS2,missense_variant,p.Arg93His,ENST00000645065,;HARS2,missense_variant,p.Arg87His,ENST00000642752,;HARS2,missense_variant,p.Arg87His,ENST00000645749,;HARS2,missense_variant,p.Arg87His,ENST00000503873,;HARS2,missense_variant,p.Arg62His,ENST00000508522,NM_001278731.1;HARS2,missense_variant,p.Arg17His,ENST00000509299,;HARS2,intron_variant,,ENST00000448069,;HARS,upstream_gene_variant,,ENST00000307633,NM_001258042.2;HARS,upstream_gene_variant,,ENST00000415192,NM_001289092.1;HARS,upstream_gene_variant,,ENST00000431330,NM_001289093.1;HARS,upstream_gene_variant,,ENST00000438307,NM_001258040.2;HARS,upstream_gene_variant,,ENST00000457527,NM_001258041.2;HARS,upstream_gene_variant,,ENST00000504156,NM_001289094.1,NM_002109.5;HARS,upstream_gene_variant,,ENST00000507746,;ZMAT2,upstream_gene_variant,,ENST00000519913,;HARS,upstream_gene_variant,,ENST00000644191,;HARS2,non_coding_transcript_exon_variant,,ENST00000502303,;HARS2,downstream_gene_variant,,ENST00000511913,;HARS2,missense_variant,p.Arg17His,ENST00000647484,;HARS2,missense_variant,p.Arg76His,ENST00000642452,;HARS2,3_prime_UTR_variant,,ENST00000520095,;HARS2,3_prime_UTR_variant,,ENST00000510104,;HARS2,non_coding_transcript_exon_variant,,ENST00000513688,;HARS,upstream_gene_variant,,ENST00000502888,;HARS2,downstream_gene_variant,,ENST00000506318,;HARS,upstream_gene_variant,,ENST00000506579,;HARS,upstream_gene_variant,,ENST00000512396,;HARS2,downstream_gene_variant,,ENST00000513912,;HARS,upstream_gene_variant,,ENST00000518126,;HARS,upstream_gene_variant,,ENST00000643686,;HARS,upstream_gene_variant,,ENST00000645491,;HARS,upstream_gene_variant,,ENST00000646229,; A ENSG00000112855 ENST00000230771 Transcript missense_variant 483/2510 260/1521 87/506 R/H cGt/cAt rs369075888 1 1 HARS2 HGNC HGNC:4817 protein_coding YES CCDS4238.1 ENSP00000230771 P49590 UPI00001364C4 NM_012208.3 deleterious(0) probably_damaging(0.992) 3/13 PROSITE_profiles:PS50862,cd00773,hmmpanther:PTHR11476,hmmpanther:PTHR11476:SF6,Pfam_domain:PF13393,Gene3D:3.30.930.10,PIRSF_domain:PIRSF001549,TIGRFAM_domain:TIGR00442,Superfamily_domains:SSF55681 0.000227 MODERATE 1 SNV 1 1 PASS CGT . . 8.121e-06 6.534e-05 5.798e-05 140694011 AC008443.7 . GRCh38 chr5 181295488 181295488 + Splice_Region DEL T T - novel 7316-2594 BS_SGS26NXP T T n.170-3del ENST00000622195 48 33 12 22 20 0 AC008443.7,splice_region_variant,,ENST00000622195,; - ENSG00000274525 ENST00000622195 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 AC008443.7 Clone_based_ensembl_gene unprocessed_pseudogene YES 2/2 LOW 1 deletion 5 PASS TGTT . . 181295487 DEK . GRCh38 chr6 18258069 18258069 + Splice_Region DEL A A - rs779424706 7316-2594 BS_SGS26NXP A A c.248-7del ENST00000397239 80 38 35 56 51 0 DEK,splice_region_variant,,ENST00000244776,NM_001134709.1;DEK,splice_region_variant,,ENST00000397239,NM_003472.3;DEK,splice_region_variant,,ENST00000503715,;DEK,splice_region_variant,,ENST00000515742,;DEK,intron_variant,,ENST00000505224,;DEK,upstream_gene_variant,,ENST00000512145,;DEK,upstream_gene_variant,,ENST00000515770,; - ENSG00000124795 ENST00000397239 Transcript splice_region_variant,intron_variant rs779424706,TMP_ESP_6_18258300_18258301,COSM5512198 1 -1 DEK HGNC HGNC:2768 protein_coding YES CCDS34344.1 ENSP00000380414 P35659 UPI0000001C2C NM_003472.3 3/10 0.0542 0.02992 0,0,1 LOW 1 deletion 1 0,0,1 1 PASS GGAA . . 0.04863 0.07038 0.07308 0.06642 0.04168 0.04665 0.03716 0.05892 0.06395 18258068 PRSS16 . GRCh38 chr6 27251981 27251981 + Frame_Shift_Del DEL G G - 7316-2594 BS_SGS26NXP G G c.953del p.Gly318AlafsTer30 p.G318Afs*30 ENST00000230582 8/12 61 30 26 37 33 0 PRSS16,frameshift_variant,p.Gly318AlafsTer30,ENST00000230582,NM_005865.3;PRSS16,intron_variant,,ENST00000421826,;PRSS16,intron_variant,,ENST00000475106,;PRSS16,intron_variant,,ENST00000485993,;PRSS16,non_coding_transcript_exon_variant,,ENST00000377456,;PRSS16,non_coding_transcript_exon_variant,,ENST00000468138,;PRSS16,non_coding_transcript_exon_variant,,ENST00000471463,;PRSS16,intron_variant,,ENST00000459736,;PRSS16,intron_variant,,ENST00000478690,;PRSS16,intron_variant,,ENST00000484493,;PRSS16,non_coding_transcript_exon_variant,,ENST00000481125,;PRSS16,non_coding_transcript_exon_variant,,ENST00000462664,;PRSS16,intron_variant,,ENST00000454665,;PRSS16,intron_variant,,ENST00000466364,;PRSS16,intron_variant,,ENST00000468930,;PRSS16,intron_variant,,ENST00000470870,;PRSS16,intron_variant,,ENST00000488649,;PRSS16,intron_variant,,ENST00000492575,;PRSS16,intron_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000485603,;,regulatory_region_variant,,ENSR00000195112,;,TF_binding_site_variant,,MA0079.3,; - ENSG00000112812 ENST00000230582 Transcript frameshift_variant 964/2716 949/1545 317/514 G/X Ggg/gg COSM1442715 1 1 PRSS16 HGNC HGNC:9480 protein_coding YES CCDS4623.1 ENSP00000230582 Q9NQE7 UPI0000137773 NM_005865.3 8/12 Low_complexity_(Seg):seg,hmmpanther:PTHR11010:SF22,hmmpanther:PTHR11010,Pfam_domain:PF05577,Gene3D:3.40.50.1820 1 HIGH 1 deletion 1 4 1 PASS TCGG . . 27251980 RPS10-NUDT3 . GRCh38 chr6 34424752 34424752 + Missense_Mutation SNP C C T novel 7316-2594 BS_SGS26NXP C C c.239G>A p.Arg80His p.R80H ENST00000639725 3/9 64 36 28 42 42 0 RPS10-NUDT3,missense_variant,p.Arg80His,ENST00000639725,NM_001202470.2;RPS10-NUDT3,missense_variant,p.Arg80His,ENST00000639877,;RPS10,missense_variant,p.Arg80His,ENST00000644700,;RPS10-NUDT3,missense_variant,p.Arg80His,ENST00000494077,;RPS10,missense_variant,p.Arg80His,ENST00000621356,NM_001203245.2;RPS10,missense_variant,p.Arg80His,ENST00000467531,;RPS10,missense_variant,p.Arg80His,ENST00000344700,;RPS10,missense_variant,p.Arg80His,ENST00000326199,NM_001014.4,NM_001204091.1;RPS10,missense_variant,p.Arg80His,ENST00000644393,;RPS10,missense_variant,p.Arg80His,ENST00000464218,;RPS10-NUDT3,missense_variant,p.Arg56His,ENST00000605528,;RPS10,non_coding_transcript_exon_variant,,ENST00000480942,; T ENSG00000270800 ENST00000639725 Transcript missense_variant 279/4782 239/876 80/291 R/H cGt/cAt 1 -1 RPS10-NUDT3 HGNC HGNC:49181 protein_coding YES ENSP00000492441 A0A1W2PQS6 UPI0000E20EFA NM_001202470.2 tolerated_low_confidence(0.07) probably_damaging(0.984) 3/9 Pfam_domain:PF03501,hmmpanther:PTHR12146,hmmpanther:PTHR12146:SF0 MODERATE SNV 5 PASS ACG . . 34424752 ETV7 . GRCh38 chr6 36371461 36371461 + Missense_Mutation SNP C C T novel 7316-2594 BS_SGS26NXP C C c.533G>A p.Gly178Asp p.G178D ENST00000340181 5/8 75 47 27 39 39 0 ETV7,missense_variant,p.Gly119Asp,ENST00000615781,NM_001207037.1;ETV7,missense_variant,p.Gly178Asp,ENST00000340181,NM_016135.3;ETV7,missense_variant,p.Gly97Asp,ENST00000620358,NM_001207040.1;ETV7,missense_variant,p.Gly123Asp,ENST00000373738,NM_001207036.1;ETV7,missense_variant,p.Gly178Asp,ENST00000339796,NM_001207035.1;ETV7,missense_variant,p.Gly27Asp,ENST00000538992,NM_001207041.1;ETV7,missense_variant,p.Gly123Asp,ENST00000627426,NM_001207039.1;ETV7,intron_variant,,ENST00000373737,NM_001207038.1; T ENSG00000010030 ENST00000340181 Transcript missense_variant 775/1719 533/1026 178/341 G/D gGc/gAc 1 -1 ETV7 HGNC HGNC:18160 protein_coding YES CCDS4819.1 ENSP00000341843 Q9Y603 UPI0000001C49 NM_016135.3 tolerated(0.3) benign(0.276) 5/8 hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF77 MODERATE 1 SNV 1 PASS GCC . . 36371461 C6orf89 . GRCh38 chr6 36899594 36899595 + Frame_Shift_Ins INS - - C rs777115998 7316-2594 BS_SGS26NXP - - c.179dup p.Gln61AlafsTer10 p.Q61Afs*10 ENST00000355190 2/8 85 47 34 43 40 0 C6orf89,frameshift_variant,p.Gln54AlafsTer10,ENST00000480824,NM_001286635.1;C6orf89,frameshift_variant,p.Gln54AlafsTer10,ENST00000373685,;C6orf89,frameshift_variant,p.Gln61AlafsTer10,ENST00000355190,NM_152734.3;C6orf89,5_prime_UTR_variant,,ENST00000359359,NM_001286637.1,NM_001286636.1; C ENSG00000198663 ENST00000355190 Transcript frameshift_variant 334-335/1309 171-172/1065 57-58/354 -/X -/C rs777115998 1 1 C6orf89 HGNC HGNC:21114 protein_coding YES CCDS4827.1 ENSP00000347322 Q6UWU4 UPI000035E870 NM_152734.3 2/8 hmmpanther:PTHR35259 HIGH 1 insertion 1 8 PASS GAC . . 0.000228 0.0001967 5.96e-05 0.0002324 9.002e-05 0.0002874 0.0004228 36899594 KIAA1586 . GRCh38 chr6 57054349 57054349 + Missense_Mutation SNP G G A rs773471612 7316-2594 BS_SGS26NXP G G c.1850G>A p.Arg617His p.R617H ENST00000370733 4/4 90 52 36 39 38 0 KIAA1586,missense_variant,p.Arg617His,ENST00000370733,NM_001286276.1,NM_020931.3;KIAA1586,missense_variant,p.Arg590His,ENST00000545356,NM_001286274.1,NM_001286275.1;KIAA1586,downstream_gene_variant,,ENST00000488682,; A ENSG00000168116 ENST00000370733 Transcript missense_variant 2057/2933 1850/2364 617/787 R/H cGc/cAc rs773471612,COSM6174822,COSM1080798 1 1 KIAA1586 HGNC HGNC:21360 protein_coding YES CCDS34480.1 ENSP00000359768 Q9HCI6 UPI0000074573 NM_001286276.1,NM_020931.3 tolerated(0.11) benign(0) 4/4 hmmpanther:PTHR23232,hmmpanther:PTHR23232:SF58,Superfamily_domains:SSF53098 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGC . . 1.273e-05 2.766e-05 57054349 ZNF451 . GRCh38 chr6 57148673 57148673 + Missense_Mutation SNP A A G novel 7316-2594 BS_SGS26NXP A A c.2588A>G p.Asp863Gly p.D863G ENST00000370706 10/15 79 70 6 45 45 0 ZNF451,missense_variant,p.Asp863Gly,ENST00000370706,NM_001031623.2;ZNF451,missense_variant,p.Asp863Gly,ENST00000357489,NM_015555.2;ZNF451,missense_variant,p.Asp863Gly,ENST00000491832,;ZNF451-AS1,intron_variant,,ENST00000416069,;ZNF451-AS1,intron_variant,,ENST00000585792,;ZNF451-AS1,intron_variant,,ENST00000586053,;ZNF451-AS1,intron_variant,,ENST00000586432,;ZNF451-AS1,intron_variant,,ENST00000586668,;ZNF451-AS1,intron_variant,,ENST00000587815,;ZNF451-AS1,intron_variant,,ENST00000588811,;ZNF451-AS1,intron_variant,,ENST00000589549,;ZNF451-AS1,intron_variant,,ENST00000591553,;ZNF451-AS1,intron_variant,,ENST00000592038,;ZNF451-AS1,intron_variant,,ENST00000592500,;ZNF451-AS1,downstream_gene_variant,,ENST00000586466,;ZNF451-AS1,downstream_gene_variant,,ENST00000589263,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,upstream_gene_variant,,ENST00000508548,; G ENSG00000112200 ENST00000370706 Transcript missense_variant 2832/5268 2588/3186 863/1061 D/G gAc/gGc 1 1 ZNF451 HGNC HGNC:21091 protein_coding YES CCDS43477.1 ENSP00000359740 Q9Y4E5 UPI000004A571 NM_001031623.2 tolerated_low_confidence(0.08) benign(0.086) 10/15 hmmpanther:PTHR44559 MODERATE 1 SNV 1 PASS GAC . . 57148673 ANKRD6 . GRCh38 chr6 89613823 89613823 + Missense_Mutation SNP G G A rs779322411 7316-2594 BS_SGS26NXP G G c.548G>A p.Arg183His p.R183H ENST00000522441 7/16 52 47 5 45 45 0 ANKRD6,missense_variant,p.Arg183His,ENST00000369408,NM_001242813.1;ANKRD6,missense_variant,p.Arg183His,ENST00000522441,NM_001242811.1;ANKRD6,missense_variant,p.Arg183His,ENST00000339746,NM_001242809.1;ANKRD6,missense_variant,p.Arg183His,ENST00000447838,NM_014942.4;ANKRD6,missense_variant,p.Arg150His,ENST00000520793,NM_001242814.1;ANKRD6,missense_variant,p.Arg183His,ENST00000485637,;ANKRD6,intron_variant,,ENST00000518150,;LYRM2,intron_variant,,ENST00000626778,;ANKRD6,downstream_gene_variant,,ENST00000465722,;LYRM2,intron_variant,,ENST00000520897,;ANKRD6,downstream_gene_variant,,ENST00000520886,;ANKRD6,missense_variant,p.Arg11His,ENST00000524056,;ANKRD6,non_coding_transcript_exon_variant,,ENST00000518253,;LYRM2,intron_variant,,ENST00000412237,;ANKRD6,upstream_gene_variant,,ENST00000520839,; A ENSG00000135299 ENST00000522441 Transcript missense_variant 1189/3157 548/2184 183/727 R/H cGc/cAc rs779322411 1 1 ANKRD6 HGNC HGNC:17280 protein_coding YES CCDS56441.1 ENSP00000430985 Q9Y2G4 UPI000020D325 NM_001242811.1 deleterious(0) probably_damaging(1) 7/16 PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,cd00204,hmmpanther:PTHR24203:SF7,hmmpanther:PTHR24203,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403 MODERATE 1 SNV 2 PASS CGC . . 2.843e-05 5.373e-05 3.249e-05 89613823 SEC63 . GRCh38 chr6 107893551 107893551 + Frame_Shift_Del DEL T T - rs752868449 7316-2594 BS_SGS26NXP T T c.1605del p.Lys535AsnfsTer28 p.K535Nfs*28 ENST00000369002 16/21 43 35 5 43 37 0 SEC63,frameshift_variant,p.Lys535AsnfsTer28,ENST00000369002,NM_007214.4;SEC63,downstream_gene_variant,,ENST00000466419,; - ENSG00000025796 ENST00000369002 Transcript frameshift_variant 1785/6411 1605/2283 535/760 K/X aaA/aa rs752868449,COSM111632 1 -1 SEC63 HGNC HGNC:21082 protein_coding YES CCDS5061.1 ENSP00000357998 Q9UGP8 A0A0S2Z5M1 UPI000000DBBB NM_007214.4 16/21 Gene3D:2.60.40.150,hmmpanther:PTHR24075,hmmpanther:PTHR24075:SF0,SMART_domains:SM00973,mobidb-lite,Low_complexity_(Seg):seg 0,1 HIGH 1 deletion 1 0,1 1 PASS GGTT . . 0.0002756 0.0002169 0.0007027 0.0002234 0.0003437 0.0002436 0.0001767 0.0002814 107893550 AL160162.1 . GRCh38 chr6 152805131 152805131 + Splice_Region DEL A A - rs879719468 7316-2594 BS_SGS26NXP A A n.61-3del ENST00000456715 56 17 33 41 39 0 AL160162.1,splice_region_variant,,ENST00000456715,;AL160162.1,upstream_gene_variant,,ENST00000417654,; - ENSG00000224893 ENST00000456715 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs879719468 1 -1 AL160162.1 Clone_based_ensembl_gene lincRNA YES 1/2 LOW 1 deletion 3 PASS CTAA . . 152805130 PDE10A . GRCh38 chr6 165396444 165396444 + Missense_Mutation SNP G G A rs1463619240 7316-2594 BS_SGS26NXP G G c.1294C>T p.Arg432Cys p.R432C ENST00000539869 14/22 49 20 28 30 29 0 PDE10A,missense_variant,p.Arg422Cys,ENST00000366882,NM_006661.3;PDE10A,missense_variant,p.Arg432Cys,ENST00000539869,NM_001130690.2; A ENSG00000112541 ENST00000539869 Transcript missense_variant 1350/4401 1294/2370 432/789 R/C Cgc/Tgc rs1463619240 1 -1 PDE10A HGNC HGNC:8772 protein_coding YES CCDS47513.1 ENSP00000438284 Q9Y233 UPI000006F80E NM_001130690.2 deleterious(0) probably_damaging(0.99) 14/22 hmmpanther:PTHR11347:SF111,hmmpanther:PTHR11347,Gene3D:3.30.450.40,SMART_domains:SM00065,Superfamily_domains:SSF55781 MODERATE 1 SNV 1 1 PASS CGA . . 165396444 MAD1L1 . GRCh38 chr7 2014627 2014627 + Missense_Mutation SNP G G A rs200755320 7316-2594 BS_SGS26NXP G G c.1234C>T p.Arg412Trp p.R412W ENST00000406869 13/19 60 31 25 52 51 0 MAD1L1,missense_variant,p.Arg412Trp,ENST00000406869,;MAD1L1,missense_variant,p.Arg412Trp,ENST00000399654,NM_001013837.1,NM_001013836.1,NM_001304523.1,NM_003550.2;MAD1L1,missense_variant,p.Arg412Trp,ENST00000265854,;MAD1L1,missense_variant,p.Arg320Trp,ENST00000402746,NM_001304524.1;MAD1L1,missense_variant,p.Arg79Trp,ENST00000438959,;MAD1L1,missense_variant,p.Arg2Trp,ENST00000421113,;MAD1L1,missense_variant,p.Arg2Trp,ENST00000444373,; A ENSG00000002822 ENST00000406869 Transcript missense_variant 1792/2991 1234/2157 412/718 R/W Cgg/Tgg rs200755320,COSM1214180 1 -1 MAD1L1 HGNC HGNC:6762 protein_coding YES CCDS43539.1 ENSP00000385334 Q9Y6D9 UPI0000072C4D deleterious(0) probably_damaging(1) 13/19 Pfam_domain:PF05557,hmmpanther:PTHR23168 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGC . . 8.259e-06 1.819e-05 2014627 EIF3B . GRCh38 chr7 2363078 2363078 + Missense_Mutation SNP C C T rs150027587 7316-2594 BS_SGS26NXP C C c.821C>T p.Thr274Met p.T274M ENST00000360876 4/19 49 31 15 40 40 0 EIF3B,missense_variant,p.Thr274Met,ENST00000360876,NM_001037283.1;EIF3B,missense_variant,p.Thr274Met,ENST00000397011,NM_003751.3;EIF3B,missense_variant,p.Thr2Met,ENST00000431643,;EIF3B,missense_variant,p.Thr235Met,ENST00000413917,;EIF3B,non_coding_transcript_exon_variant,,ENST00000463229,;EIF3B,upstream_gene_variant,,ENST00000463026,;EIF3B,upstream_gene_variant,,ENST00000466199,;EIF3B,upstream_gene_variant,,ENST00000468250,; T ENSG00000106263 ENST00000360876 Transcript missense_variant 877/3055 821/2445 274/814 T/M aCg/aTg rs150027587 1 1 EIF3B HGNC HGNC:3280 protein_coding YES CCDS5332.1 ENSP00000354125 P55884 A0A024R821 UPI000013F934 NM_001037283.1 deleterious(0.05) benign(0.248) 4/19 HAMAP:MF_03001,hmmpanther:PTHR14068,PIRSF_domain:PIRSF036424 0.0002326 MODERATE 1 SNV 1 PASS ACG . . 3.25e-05 0.0001015 1.79e-05 0.0001624 2363078 ZNF316 . GRCh38 chr7 6654453 6654453 + Missense_Mutation SNP G G A rs1383855787 7316-2594 BS_SGS26NXP G G c.2857G>A p.Ala953Thr p.A953T ENST00000382252 9/9 66 34 31 49 49 0 ZNF316,missense_variant,p.Ala953Thr,ENST00000382252,NM_001278559.1;,regulatory_region_variant,,ENSR00000208253,; A ENSG00000205903 ENST00000382252 Transcript missense_variant 3413/5392 2857/3015 953/1004 A/T Gcg/Acg rs1383855787 1 1 ZNF316 HGNC HGNC:13843 protein_coding YES CCDS75563.1 ENSP00000477706 A6NFI3 UPI0000D61BFB NM_001278559.1 tolerated_low_confidence(0.13) unknown(0) 9/9 Gene3D:3.30.40.10,hmmpanther:PTHR24408,hmmpanther:PTHR24408:SF17,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CGC . . 6654453 ETV1 . GRCh38 chr7 13935848 13935848 + Frame_Shift_Del DEL G G - 7316-2594 BS_SGS26NXP G G c.414del p.Thr139HisfsTer116 p.T139Hfs*116 ENST00000430479 8/14 74 38 29 48 48 0 ETV1,frameshift_variant,p.Thr139HisfsTer116,ENST00000430479,NM_004956.4;ETV1,frameshift_variant,p.Thr121HisfsTer116,ENST00000242066,NM_001163148.1;ETV1,frameshift_variant,p.Thr81HisfsTer116,ENST00000420159,NM_001163151.1;ETV1,frameshift_variant,p.Thr139HisfsTer116,ENST00000405192,NM_001163147.1;ETV1,frameshift_variant,p.Thr153HisfsTer116,ENST00000405358,;ETV1,frameshift_variant,p.Thr139HisfsTer116,ENST00000405218,;ETV1,frameshift_variant,p.Thr99HisfsTer116,ENST00000403527,NM_001163150.1;ETV1,frameshift_variant,p.Thr121HisfsTer116,ENST00000403685,NM_001163149.1;ETV1,frameshift_variant,p.Thr81HisfsTer116,ENST00000438956,;ETV1,intron_variant,,ENST00000399357,NM_001163152.1;ETV1,intron_variant,,ENST00000443608,;ETV1,downstream_gene_variant,,ENST00000421381,;ETV1,downstream_gene_variant,,ENST00000431887,;ETV1,non_coding_transcript_exon_variant,,ENST00000476720,;ETV1,non_coding_transcript_exon_variant,,ENST00000497115,;ETV1,frameshift_variant,p.Thr139HisfsTer116,ENST00000443137,;ETV1,non_coding_transcript_exon_variant,,ENST00000472931,;ETV1,non_coding_transcript_exon_variant,,ENST00000476355,; - ENSG00000006468 ENST00000430479 Transcript frameshift_variant 1082/6740 414/1434 138/477 P/X ccC/cc COSM4649780,COSM4649779,COSM1448532,COSM1448531 1 -1 ETV1 HGNC HGNC:3490 protein_coding YES CCDS55088.1 ENSP00000405327 P50549 UPI000012A26E NM_004956.4 8/14 Pfam_domain:PF04621,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF210,mobidb-lite,Low_complexity_(Seg):seg 1,1,1,1 HIGH 1 deletion 1 1,1,1,1 1 PASS GTGG . . 13935847 PKD1L1 . GRCh38 chr7 47915588 47915589 + Frame_Shift_Ins INS - - A rs747489712 7316-2594 BS_SGS26NXP - - c.1071dup p.His358SerfsTer30 p.H358Sfs*30 ENST00000289672 8/57 79 46 25 42 40 0 PKD1L1,frameshift_variant,p.His358SerfsTer30,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;,regulatory_region_variant,,ENSR00000212288,; A ENSG00000158683 ENST00000289672 Transcript frameshift_variant 1122-1123/9092 1071-1072/8550 357-358/2849 -/X -/T rs747489712 1 -1 PKD1L1 HGNC HGNC:18053 protein_coding YES CCDS34633.1 ENSP00000289672 Q8TDX9 UPI0000130FA9 NM_138295.3 8/57 0.0002345 0.0004846 HIGH 1 insertion 1 1 PASS TGA . . 8.113e-05 7.628e-05 0.0001779 7.832e-05 0.0001463 5.339e-05 0.0002469 4.359e-05 47915588 AKAP9 . GRCh38 chr7 92040810 92040810 + Missense_Mutation SNP A A G 7316-2594 BS_SGS26NXP A A c.4829A>G p.Gln1610Arg p.Q1610R ENST00000356239 18/50 67 44 19 36 36 0 AKAP9,missense_variant,p.Gln1610Arg,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,missense_variant,p.Gln1621Arg,ENST00000359028,;AKAP9,missense_variant,p.Gln1610Arg,ENST00000358100,;AKAP9,missense_variant,p.Gln1618Arg,ENST00000619023,;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,;AKAP9,non_coding_transcript_exon_variant,,ENST00000484815,; G ENSG00000127914 ENST00000356239 Transcript missense_variant 5062/12471 4829/11724 1610/3907 Q/R cAa/cGa COSM6504668,COSM6504669 1 1 AKAP9 HGNC HGNC:379 protein_coding YES CCDS5622.1 ENSP00000348573 Q99996 UPI000002A38D NM_147185.2,NM_005751.4 tolerated(0.06) possibly_damaging(0.86) 18/50 Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR44981 1,1 MODERATE 1 SNV 1 1,1 1 PASS CAA . . 92040810 SAMD9L . GRCh38 chr7 93131425 93131425 + Frame_Shift_Del DEL T T - 7316-2594 BS_SGS26NXP T T c.4547del p.Asn1516MetfsTer10 p.N1516Mfs*10 ENST00000318238 5/5 70 61 6 39 36 0 SAMD9L,frameshift_variant,p.Asn1516MetfsTer10,ENST00000318238,NM_001303500.1,NM_152703.3,NM_001350083.1;SAMD9L,frameshift_variant,p.Asn1516MetfsTer10,ENST00000411955,NM_001303496.1,NM_001303498.1;SAMD9L,frameshift_variant,p.Asn1516MetfsTer10,ENST00000437805,NM_001303497.1;SAMD9L,frameshift_variant,p.Asn338MetfsTer10,ENST00000610760,;SAMD9L,downstream_gene_variant,,ENST00000414791,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,; - ENSG00000177409 ENST00000318238 Transcript frameshift_variant 5764/7134 4547/4755 1516/1584 N/X aAt/at COSM1452889 1 -1 SAMD9L HGNC HGNC:1349 protein_coding YES CCDS34681.1 ENSP00000326247 Q8IVG5 UPI000020F567 NM_001303500.1,NM_152703.3,NM_001350083.1 5/5 hmmpanther:PTHR16155:SF18,hmmpanther:PTHR16155 1 HIGH 1 deletion 1 1 1 PASS CATT . . 93131424 TRIM56 . GRCh38 chr7 101089215 101089215 + Missense_Mutation SNP C C T rs370129810 7316-2594 BS_SGS26NXP C C c.1903C>T p.Arg635Trp p.R635W ENST00000306085 3/3 55 40 9 37 37 0 TRIM56,missense_variant,p.Arg635Trp,ENST00000306085,NM_030961.2;TRIM56,intron_variant,,ENST00000412507,;TRIM56,downstream_gene_variant,,ENST00000467847,;TRIM56,upstream_gene_variant,,ENST00000487252,; T ENSG00000169871 ENST00000306085 Transcript missense_variant 2200/10952 1903/2268 635/755 R/W Cgg/Tgg rs370129810 1 1 TRIM56 HGNC HGNC:19028 protein_coding YES CCDS43625.1 ENSP00000305161 Q9BRZ2 UPI0000171C4A NM_030961.2 deleterious(0.01) probably_damaging(0.985) 3/3 Gene3D:2.120.10.30,Superfamily_domains:SSF75011 0.0001215 MODERATE 1 SNV 1 PASS GCG . . 8.145e-05 6.575e-05 2.982e-05 0.0001526 3.252e-05 101089215 POLR2J . GRCh38 chr7 102474542 102474543 + Splice_Region INS - - C rs527641008 7316-2594 BS_SGS26NXP - - c.144-8dup ENST00000292614 43 32 8 19 17 0 POLR2J,splice_region_variant,,ENST00000292614,NM_006234.4;POLR2J,splice_region_variant,,ENST00000393794,;LRWD1,downstream_gene_variant,,ENST00000292616,NM_152892.2,NM_001317721.1;LRWD1,downstream_gene_variant,,ENST00000468175,;MIR4467,downstream_gene_variant,,ENST00000578629,;LRWD1,downstream_gene_variant,,ENST00000473880,; C ENSG00000005075 ENST00000292614 Transcript splice_region_variant,intron_variant rs527641008 1 -1 POLR2J HGNC HGNC:9197 protein_coding YES CCDS5724.1 ENSP00000292614 P52435 UPI000000B2C2 NM_006234.4 2/3 0.1707 0.0681 0.2435 0.127 0.327 0.1421 0.01176 0.05941 LOW 1 insertion 1 PASS GTC . . 0.06946 0.02864 0.09452 0.07547 0.06094 0.008477 0.08893 0.107 0.05109 102474542 PTN . GRCh38 chr7 137253630 137253630 + Frame_Shift_Del DEL T T - 7316-2594 BS_SGS26NXP T T c.123del p.Val42Ter p.V42* ENST00000348225 3/5 75 45 24 29 27 0 PTN,frameshift_variant,p.Val42Ter,ENST00000348225,NM_001321386.1,NM_002825.5,NM_001321387.1;PTN,frameshift_variant,p.Val42Ter,ENST00000393083,; - ENSG00000105894 ENST00000348225 Transcript frameshift_variant 551/1614 123/507 41/168 K/X aaA/aa COSM1448317 1 -1 PTN HGNC HGNC:9630 protein_coding YES CCDS5844.1 ENSP00000341170 P21246 A0A024R778 UPI000013297B NM_001321386.1,NM_002825.5,NM_001321387.1 3/5 PDB-ENSP_mappings:2n6f.A,Low_complexity_(Seg):seg,hmmpanther:PTHR13850:SF1,hmmpanther:PTHR13850,Pfam_domain:PF05196,Gene3D:2.20.60.10,Superfamily_domains:SSF57288,blastprodom:PD005592 1 HIGH 1 deletion 1 1 PASS ACTT . . 137253629 ZNF746 . GRCh38 chr7 149474875 149474889 + In_Frame_Del DEL CCGACCCGTCGGGCG CCGACCCGTCGGGCG - novel 7316-2594 BS_SGS26NXP CCGACCCGTCGGGCG CCGACCCGTCGGGCG c.1433_1447del p.Ala478_Ser482del p.A478_S482del ENST00000458143 7/7 73 43 27 42 42 0 ZNF746,inframe_deletion,p.Ala492_Ser496del,ENST00000644635,;ZNF746,inframe_deletion,p.Ala477_Ser481del,ENST00000340622,NM_152557.4;ZNF746,inframe_deletion,p.Ala478_Ser482del,ENST00000458143,NM_001163474.1;ZNF746,downstream_gene_variant,,ENST00000471735,;,regulatory_region_variant,,ENSR00000219609,; - ENSG00000181220 ENST00000458143 Transcript inframe_deletion 1704-1718/3797 1433-1447/1938 478-483/645 APDGSG/G gCGCCCGACGGGTCGGgc/ggc 1 -1 ZNF746 HGNC HGNC:21948 protein_coding YES CCDS55180.1 ENSP00000395007 Q6NUN9 UPI00015DA840 NM_001163474.1 7/7 Low_complexity_(Seg):seg,mobidb-lite,PROSITE_profiles:PS50157,hmmpanther:PTHR45322,Gene3D:2.20.28.10 MODERATE 1 deletion 2 PASS GCCCGACCCGTCGGGCGC . . 149474874 NOS3 . GRCh38 chr7 151010163 151010163 + Missense_Mutation SNP C C T rs148919189 7316-2594 BS_SGS26NXP C C c.2561C>T p.Thr854Met p.T854M ENST00000297494 21/27 66 33 30 31 31 0 NOS3,missense_variant,p.Thr854Met,ENST00000297494,NM_000603.4;NOS3,missense_variant,p.Thr648Met,ENST00000461406,;NOS3,missense_variant,p.Thr148Met,ENST00000475017,;ATG9B,downstream_gene_variant,,ENST00000639579,;NOS3,upstream_gene_variant,,ENST00000468293,;NOS3,downstream_gene_variant,,ENST00000473057,;ATG9B,downstream_gene_variant,,ENST00000476282,;NOS3,upstream_gene_variant,,ENST00000477227,;ATG9B,downstream_gene_variant,,ENST00000498521,;ATG9B,downstream_gene_variant,,ENST00000617967,;ATG9B,downstream_gene_variant,,ENST00000404733,;ATG9B,downstream_gene_variant,,ENST00000471797,;NOS3,upstream_gene_variant,,ENST00000475454,;ATG9B,downstream_gene_variant,,ENST00000605952,;,regulatory_region_variant,,ENSR00000219768,; T ENSG00000164867 ENST00000297494 Transcript missense_variant 2918/4388 2561/3612 854/1203 T/M aCg/aTg rs148919189 1 1 NOS3 HGNC HGNC:7876 protein_coding YES CCDS5912.1 ENSP00000297494 P29474 UPI000013E417 NM_000603.4 deleterious(0) probably_damaging(0.984) 21/27 Gene3D:2.40.30.10,Pfam_domain:PF00667,PIRSF_domain:PIRSF000333,PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Superfamily_domains:SSF63380 0.0008 0.003 0.002044 MODERATE 1 SNV 1 1 PASS ACG . . 0.0002288 0.002299 0.0003577 5.804e-05 3.62e-05 0.0003666 6.506e-05 151010163 DLGAP2 . GRCh38 chr8 1548841 1548841 + Frame_Shift_Del DEL G G - 7316-2594 BS_SGS26NXP G G c.393del p.Arg132AlafsTer15 p.R132Afs*15 ENST00000637795 5/15 74 31 35 39 38 0 DLGAP2,frameshift_variant,p.Arg52AlafsTer15,ENST00000612087,NM_001277161.1,NM_004745.4;DLGAP2,frameshift_variant,p.Arg69AlafsTer15,ENST00000520901,;DLGAP2,frameshift_variant,p.Arg132AlafsTer15,ENST00000637795,;DLGAP2,frameshift_variant,p.Arg131AlafsTer15,ENST00000421627,;,regulatory_region_variant,,ENSR00000220438,; - ENSG00000198010 ENST00000637795 Transcript frameshift_variant 600/3380 388/3168 130/1055 G/X Ggg/gg TMP_ESP_8_1497007_1497007,COSM1203747,COSM1203748,COSM1623803,COSM1623804 1 1 DLGAP2 HGNC HGNC:2906 protein_coding YES ENSP00000489774 A0A1B0GTN4 UPI0007E52AB2 5/15 hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3 0.003296 0.005409 0,1,1,1,1 HIGH 1 deletion 5 5 0,1,1,1,1 PASS CCGG . . 1548840 SLC35G5 . GRCh38 chr8 11331266 11331266 + Missense_Mutation SNP G G A rs746349328 7316-2594 BS_SGS26NXP G G c.160G>A p.Val54Met p.V54M ENST00000382435 1/1 67 41 26 36 36 0 SLC35G5,missense_variant,p.Val54Met,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; A ENSG00000177710 ENST00000382435 Transcript missense_variant 379/1321 160/1017 54/338 V/M Gtg/Atg rs746349328 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 deleterious(0) probably_damaging(0.979) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE SNV PASS CGT . . 8.534e-05 6.534e-05 2.978e-05 0.0009276 9.746e-05 11331266 FAM86B1 . GRCh38 chr8 12185459 12185459 + Missense_Mutation SNP C C T rs201164518 7316-2594 BS_SGS26NXP C C c.707G>A p.Arg236Gln p.R236Q ENST00000448228 6/7 52 37 15 38 38 0 FAM86B1,missense_variant,p.Arg236Gln,ENST00000448228,NM_001083537.1;FAM86B1,missense_variant,p.Arg270Gln,ENST00000533852,;FAM86B1,synonymous_variant,p.Pro147=,ENST00000534520,;FAM86B1,downstream_gene_variant,,ENST00000524571,;FAM86B1,downstream_gene_variant,,ENST00000533513,;FAM86B1,missense_variant,p.Gly76Arg,ENST00000527300,;FAM86B1,synonymous_variant,p.Pro147=,ENST00000340537,;FAM86B1,synonymous_variant,p.Pro99=,ENST00000530385,;FAM86B1,3_prime_UTR_variant,,ENST00000431227,;FAM86B1,3_prime_UTR_variant,,ENST00000529146,;FAM86B1,3_prime_UTR_variant,,ENST00000534187,;FAM86B1,3_prime_UTR_variant,,ENST00000526708,;FAM86B1,3_prime_UTR_variant,,ENST00000524893,;FAM86B1,3_prime_UTR_variant,,ENST00000529060,;FAM86B1,non_coding_transcript_exon_variant,,ENST00000530508,;FAM86B1,non_coding_transcript_exon_variant,,ENST00000529617,;FAM86B1,non_coding_transcript_exon_variant,,ENST00000534732,;FAM86B1,non_coding_transcript_exon_variant,,ENST00000525822,;FAM86B1,downstream_gene_variant,,ENST00000531833,;ALG1L11P,downstream_gene_variant,,ENST00000511660,; T ENSG00000186523 ENST00000448228 Transcript missense_variant 757/2096 707/891 236/296 R/Q cGg/cAg rs201164518 1 -1 FAM86B1 HGNC HGNC:28268 protein_coding YES CCDS59512.1 ENSP00000407067 Q8N7N1 UPI0000F58EC4 NM_001083537.1 tolerated(0.44) benign(0.003) 6/7 hmmpanther:PTHR14614:SF25,hmmpanther:PTHR14614,Gene3D:3.40.50.150,Pfam_domain:PF10294 MODERATE 1 SNV 5 PASS CCG . . 6.239e-05 0.0001047 0.0001234 0.0002739 4.89e-05 4.495e-05 12185459 NUGGC . GRCh38 chr8 28064653 28064653 + Missense_Mutation SNP G G A rs568739858 7316-2594 BS_SGS26NXP G G c.790C>T p.Arg264Cys p.R264C ENST00000413272 7/19 66 30 32 45 45 0 NUGGC,missense_variant,p.Arg264Cys,ENST00000413272,NM_001010906.1;NUGGC,downstream_gene_variant,,ENST00000418860,; A ENSG00000189233 ENST00000413272 Transcript missense_variant 933/3887 790/2391 264/796 R/C Cgc/Tgc rs568739858,COSM184538,COSM2788323 1 -1 NUGGC HGNC HGNC:33550 protein_coding YES CCDS47833.1 ENSP00000408697 Q68CJ6 UPI0000237454 NM_001010906.1 deleterious(0) possibly_damaging(0.471) 7/19 hmmpanther:PTHR19331:SF254,hmmpanther:PTHR19331,Gene3D:3.40.50.300,Pfam_domain:PF00350,Superfamily_domains:SSF52540 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CGC . . 5.685e-05 6.538e-05 5.956e-05 0.0001015 5.8e-05 4.484e-05 6.266e-05 3.249e-05 28064653 WRN . GRCh38 chr8 31157510 31157510 + Missense_Mutation SNP G G A rs766042685 7316-2594 BS_SGS26NXP G G c.3962G>A p.Arg1321Gln p.R1321Q ENST00000298139 33/35 77 43 30 35 34 0 WRN,missense_variant,p.Arg1321Gln,ENST00000298139,NM_000553.4;WRN,non_coding_transcript_exon_variant,,ENST00000521620,; A ENSG00000165392 ENST00000298139 Transcript missense_variant 4211/5215 3962/4299 1321/1432 R/Q cGa/cAa rs766042685 1 1 WRN HGNC HGNC:12791 protein_coding YES CCDS6082.1 ENSP00000298139 Q14191 UPI000013E49D NM_000553.4 tolerated(0.15) benign(0.029) 33/35 hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF120,Pfam_domain:PF14493 uncertain_significance MODERATE 1 SNV 1 1 1 PASS CGA . . 3.254e-05 6.538e-05 0.0001491 1.794e-05 31157510 SPIDR . GRCh38 chr8 47729422 47729422 + Missense_Mutation SNP G G A rs570527512 7316-2594 BS_SGS26NXP G G c.2561G>A p.Arg854His p.R854H ENST00000297423 19/20 86 80 5 37 37 0 SPIDR,missense_variant,p.Arg854His,ENST00000297423,NM_001080394.3;SPIDR,missense_variant,p.Arg784His,ENST00000541342,NM_001282916.1;SPIDR,missense_variant,p.Arg329His,ENST00000517693,NM_001352960.1;SPIDR,missense_variant,p.Arg56His,ENST00000518060,;SPIDR,missense_variant,p.Arg56His,ENST00000517619,;SPIDR,intron_variant,,ENST00000518074,NM_001282919.1;SPIDR,intron_variant,,ENST00000519401,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519141,;SPIDR,upstream_gene_variant,,ENST00000588781,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,3_prime_UTR_variant,,ENST00000524126,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519362,;SPIDR,non_coding_transcript_exon_variant,,ENST00000518711,; A ENSG00000164808 ENST00000297423 Transcript missense_variant 2945/3988 2561/2748 854/915 R/H cGc/cAc rs570527512,COSM1100157 1 1 SPIDR HGNC HGNC:28971 protein_coding YES CCDS43737.1 ENSP00000297423 Q14159 UPI0000253B92 NM_001080394.3 tolerated(0.14) benign(0.003) 19/20 hmmpanther:PTHR34347,Pfam_domain:PF14951 0.0004 0.0015 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGC . . 1.407e-05 5.445e-05 2.097e-05 47729422 VPS13B . GRCh38 chr8 99699597 99699597 + Frame_Shift_Del DEL T T - 7316-2594 BS_SGS26NXP T T c.6200del p.Leu2067Ter p.L2067* ENST00000358544 36/62 78 40 31 53 49 0 VPS13B,frameshift_variant,p.Leu2067Ter,ENST00000358544,NM_017890.4;VPS13B,frameshift_variant,p.Leu2042Ter,ENST00000357162,NM_152564.4;AC018442.1,downstream_gene_variant,,ENST00000421439,; - ENSG00000132549 ENST00000358544 Transcript frameshift_variant 6305/14094 6194/12069 2065/4022 L/X cTt/ct COSM3268464,COSM3268465 1 1 VPS13B HGNC HGNC:2183 protein_coding YES CCDS6280.1 ENSP00000351346 Q7Z7G8 UPI00001D2D35 NM_017890.4 36/62 hmmpanther:PTHR12517 1,1 HIGH 1 deletion 1 6 1,1 1 PASS CCTT . . 99699596 MTSS1 . GRCh38 chr8 124555782 124555785 + Frame_Shift_Del DEL TGTC TGTC - novel 7316-2594 BS_SGS26NXP TGTC TGTC c.1536_1539del p.Thr513ProfsTer22 p.T513Pfs*22 ENST00000325064 14/15 67 36 28 35 35 0 MTSS1,frameshift_variant,p.Thr509ProfsTer22,ENST00000518547,NM_014751.5;MTSS1,frameshift_variant,p.Thr484ProfsTer22,ENST00000378017,NM_001282974.1;MTSS1,frameshift_variant,p.Thr513ProfsTer22,ENST00000325064,NM_001282971.1;MTSS1,frameshift_variant,p.Thr399ProfsTer22,ENST00000524090,;MTSS1,frameshift_variant,p.Thr297ProfsTer22,ENST00000519168,;MTSS1,frameshift_variant,p.Thr227ProfsTer22,ENST00000431961,;NDUFB9,intron_variant,,ENST00000522532,;MTSS1,downstream_gene_variant,,ENST00000522118,;MTSS1,downstream_gene_variant,,ENST00000523179,;MTSS1,non_coding_transcript_exon_variant,,ENST00000523587,;NDUFB9,downstream_gene_variant,,ENST00000517830,;MTSS1,downstream_gene_variant,,ENST00000520094,;MTSS1,downstream_gene_variant,,ENST00000522722,;MTSS1,non_coding_transcript_exon_variant,,ENST00000520771,; - ENSG00000170873 ENST00000325064 Transcript frameshift_variant 1854-1857/2777 1536-1539/2280 512-513/759 QT/X caGACA/ca 1 -1 MTSS1 HGNC HGNC:20443 protein_coding YES CCDS64969.1 ENSP00000322804 O43312 UPI0001E8F264 NM_001282971.1 14/15 mobidb-lite,hmmpanther:PTHR15708,hmmpanther:PTHR15708:SF10 HIGH 1 deletion 2 PASS GTTGTCT . . 124555781 KCNV2 . GRCh38 chr9 2718355 2718355 + Missense_Mutation SNP C C T rs377471498 7316-2594 BS_SGS26NXP C C c.616C>T p.Arg206Trp p.R206W ENST00000382082 1/2 68 45 21 25 24 0 KCNV2,missense_variant,p.Arg206Trp,ENST00000382082,NM_133497.3;PUM3,downstream_gene_variant,,ENST00000490444,;,regulatory_region_variant,,ENSR00000334123,; T ENSG00000168263 ENST00000382082 Transcript missense_variant 854/2186 616/1638 206/545 R/W Cgg/Tgg rs377471498 1 1 KCNV2 HGNC HGNC:19698 protein_coding YES CCDS6447.1 ENSP00000371514 Q8TDN2 UPI0000048D8E NM_133497.3 deleterious(0) probably_damaging(0.983) 1/2 Gene3D:3.30.710.10,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40,Superfamily_domains:SSF54695 MODERATE 1 SNV 1 1 PASS GCG . . 2718355 ELAVL2 . GRCh38 chr9 23705058 23705058 + Missense_Mutation SNP C C T 7316-2594 BS_SGS26NXP C C c.347G>A p.Arg116His p.R116H ENST00000397312 4/7 81 38 42 36 35 0 ELAVL2,missense_variant,p.Arg116His,ENST00000397312,NM_004432.3,NM_001351472.1,NM_001351468.1,NM_001351467.1;ELAVL2,missense_variant,p.Arg116His,ENST00000544538,NM_001351476.1,NM_001351473.1,NM_001351475.1,NM_001351474.1,NM_001351470.1;ELAVL2,missense_variant,p.Arg116His,ENST00000223951,NM_001171195.1,NM_001171197.1,NM_001351465.1,NM_001351478.1;ELAVL2,missense_variant,p.Arg145His,ENST00000380110,NM_001351469.1,NM_001351458.1,NM_001351459.1,NM_001351471.1;ELAVL2,missense_variant,p.Arg116His,ENST00000380117,;ELAVL2,missense_variant,p.Arg116His,ENST00000440102,;ELAVL2,5_prime_UTR_variant,,ENST00000423281,; T ENSG00000107105 ENST00000397312 Transcript missense_variant 622/3805 347/1080 116/359 R/H cGc/cAc COSM1578771,COSM3906662 1 -1 ELAVL2 HGNC HGNC:3313 protein_coding YES CCDS6515.1 ENSP00000380479 Q12926 UPI000013C83F NM_004432.3,NM_001351472.1,NM_001351468.1,NM_001351467.1 deleterious(0) benign(0.071) 4/7 Gene3D:3.30.70.330,PIRSF_domain:PIRSF037949,Prints_domain:PR00961,PROSITE_profiles:PS50102,hmmpanther:PTHR43938,hmmpanther:PTHR43938:SF1,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01661 1,1 MODERATE 1 SNV 1 1,1 PASS GCG . . 23705058 TRPM6 . GRCh38 chr9 74771729 74771729 + Missense_Mutation SNP C C A novel 7316-2594 BS_SGS26NXP C C c.3510G>T p.Glu1170Asp p.E1170D ENST00000360774 25/39 82 45 36 46 46 0 TRPM6,missense_variant,p.Glu1170Asp,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Glu1165Asp,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Glu1165Asp,ENST00000449912,NM_001177310.1; A ENSG00000119121 ENST00000360774 Transcript missense_variant 3748/8425 3510/6069 1170/2022 E/D gaG/gaT 1 -1 TRPM6 HGNC HGNC:17995 protein_coding YES CCDS6647.1 ENSP00000354006 Q9BX84 UPI000006E041 NM_017662.4 tolerated(0.4) benign(0.024) 25/39 Pfam_domain:PF16519,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15 MODERATE 1 SNV 1 1 PASS CCT . . 74771729 NOL8 . GRCh38 chr9 92297891 92297892 + Splice_Region INS - - A rs768921532 7316-2594 BS_SGS26NXP - - c.3454-6dup ENST00000545558 93 54 32 46 40 0 NOL8,splice_region_variant,,ENST00000358855,NM_001256394.1;NOL8,splice_region_variant,,ENST00000442668,NM_017948.5;NOL8,splice_region_variant,,ENST00000535387,;NOL8,splice_region_variant,,ENST00000542053,;NOL8,splice_region_variant,,ENST00000545558,;IARS,upstream_gene_variant,,ENST00000375643,NM_002161.5,NM_013417.3;IARS,upstream_gene_variant,,ENST00000395554,;IARS,upstream_gene_variant,,ENST00000430417,;NOL8,downstream_gene_variant,,ENST00000432670,;IARS,upstream_gene_variant,,ENST00000443024,;IARS,upstream_gene_variant,,ENST00000447699,;IARS,upstream_gene_variant,,ENST00000627121,;NOL8,downstream_gene_variant,,ENST00000477862,;IARS,upstream_gene_variant,,ENST00000490438,;NOL8,splice_region_variant,,ENST00000360868,;NOL8,splice_region_variant,,ENST00000463593,;NOL8,splice_region_variant,,ENST00000536593,;NOL8,splice_region_variant,,ENST00000544867,;NOL8,splice_region_variant,,ENST00000545444,; A ENSG00000198000 ENST00000545558 Transcript splice_region_variant,intron_variant rs768921532,TMP_ESP_9_95060174_95060174 1 -1 NOL8 HGNC HGNC:23387 protein_coding YES CCDS47993.1 ENSP00000441140 Q76FK4 UPI0000211A3D 16/16 0.01326 0.01629 LOW insertion 5 PASS GGA . . 0.0089 0.009726 0.01895 0.007443 0.01111 0.003739 0.008617 0.01003 0.004698 92297891 INVS . GRCh38 chr9 100292701 100292701 + Frame_Shift_Del DEL G G - rs758373067 7316-2594 BS_SGS26NXP G G c.2449del p.Glu817ArgfsTer19 p.E817Rfs*19 ENST00000262457 14/17 83 42 35 32 31 0 INVS,frameshift_variant,p.Glu817ArgfsTer19,ENST00000262457,NM_014425.4,NM_001318382.1,NM_001318381.1;INVS,intron_variant,,ENST00000262456,; - ENSG00000119509 ENST00000262457 Transcript frameshift_variant 2629/3709 2444/3198 815/1065 R/X cGg/cg rs758373067,COSM1181061,COSM4692789 1 1 INVS HGNC HGNC:17870 protein_coding YES CCDS6746.1 ENSP00000262457 Q9Y283 A0A024R153 UPI000013D2BB NM_014425.4,NM_001318382.1,NM_001318381.1 14/17 Gene3D:4.10.270.10,hmmpanther:PTHR24178,hmmpanther:PTHR24178:SF2,mobidb-lite 0,1,1 HIGH 1 deletion 1 5 0,1,1 1 PASS CCGG . . 1.23e-05 2.978e-05 6.497e-05 100292700 TNC . GRCh38 chr9 115062923 115062923 + Missense_Mutation SNP C C T rs145446426 7316-2594 BS_SGS26NXP C C c.4027G>A p.Val1343Ile p.V1343I ENST00000350763 13/28 76 46 28 33 33 0 TNC,missense_variant,p.Val1343Ile,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Val1343Ile,ENST00000423613,;TNC,intron_variant,,ENST00000341037,;TNC,intron_variant,,ENST00000535648,;TNC,intron_variant,,ENST00000537320,;TNC,intron_variant,,ENST00000542877,;TNC,intron_variant,,ENST00000544972,;TNC,upstream_gene_variant,,ENST00000635336,;TNC,non_coding_transcript_exon_variant,,ENST00000476680,;TNC,intron_variant,,ENST00000473855,;TNC,intron_variant,,ENST00000498724,; T ENSG00000041982 ENST00000350763 Transcript missense_variant 4439/7641 4027/6606 1343/2201 V/I Gtc/Atc rs145446426,COSM4962682 1 -1 TNC HGNC HGNC:5318 protein_coding YES CCDS6811.1 ENSP00000265131 P24821 UPI000013D5BD NM_002160.3 tolerated(0.51) benign(0) 13/28 Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF38,Superfamily_domains:SSF49265,cd00063 0.0002326 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACG . . 7.389e-05 2.982e-05 4.511e-05 0.0001095 0.0001837 9.774e-05 115062923 MAPKAP1 . GRCh38 chr9 125468073 125468073 + Missense_Mutation SNP G G A rs530682321 7316-2594 BS_SGS26NXP G G c.1244C>T p.Thr415Met p.T415M ENST00000265960 10/12 65 38 27 45 44 0 MAPKAP1,missense_variant,p.Thr415Met,ENST00000265960,NM_001006617.1;MAPKAP1,missense_variant,p.Thr379Met,ENST00000350766,NM_024117.3;MAPKAP1,missense_variant,p.Thr368Met,ENST00000373511,NM_001006619.1;MAPKAP1,missense_variant,p.Thr415Met,ENST00000373498,;MAPKAP1,missense_variant,p.Thr223Met,ENST00000373503,NM_001006620.1;MAPKAP1,missense_variant,p.Thr223Met,ENST00000394063,NM_001006621.1;MAPKAP1,missense_variant,p.Thr187Met,ENST00000420643,;MAPKAP1,intron_variant,,ENST00000444226,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000483937,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000496063,;MAPKAP1,missense_variant,p.Thr187Met,ENST00000497932,; A ENSG00000119487 ENST00000265960 Transcript missense_variant 1577/3395 1244/1569 415/522 T/M aCg/aTg rs530682321,COSM3325075,COSM3325076 1 -1 MAPKAP1 HGNC HGNC:18752 protein_coding YES CCDS35140.1 ENSP00000265960 Q9BPZ7 UPI00000372F6 NM_001006617.1 deleterious(0.02) probably_damaging(0.994) 10/12 Pfam_domain:PF16979,hmmpanther:PTHR13335,cd13331 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGT . . 125468073 AL360268.2 . GRCh38 chr9 128039312 128039312 + Splice_Region DEL A A - novel 7316-2594 BS_SGS26NXP A A n.208-5del ENST00000414976 57 28 22 32 32 0 AL360268.2,splice_region_variant,,ENST00000414976,; - ENSG00000230848 ENST00000414976 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AL360268.2 Clone_based_ensembl_gene antisense YES 1/1 LOW 1 deletion 3 PASS GTAA . . 128039311 RAPGEF1 . GRCh38 chr9 131582690 131582690 + Missense_Mutation SNP A A G novel 7316-2594 BS_SGS26NXP A A c.2923T>C p.Tyr975His p.Y975H ENST00000372190 22/24 73 31 37 38 36 0 RAPGEF1,missense_variant,p.Tyr974His,ENST00000372195,NM_001304275.1;RAPGEF1,missense_variant,p.Tyr957His,ENST00000372189,NM_005312.3;RAPGEF1,missense_variant,p.Tyr975His,ENST00000372190,NM_198679.1; G ENSG00000107263 ENST00000372190 Transcript missense_variant 2961/6045 2923/3288 975/1095 Y/H Tac/Cac 1 -1 RAPGEF1 HGNC HGNC:4568 protein_coding YES CCDS48048.1 ENSP00000361264 Q13905 UPI0000074689 NM_198679.1 deleterious(0) probably_damaging(0.982) 22/24 Gene3D:1.10.840.10,Pfam_domain:PF00617,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF224,SMART_domains:SM00147,Superfamily_domains:SSF48366,cd00155 MODERATE 1 SNV 1 PASS TAC . . 131582690 CEL . GRCh38 chr9 133071600 133071601 + Frame_Shift_Ins INS - - C rs778517731 7316-2594 BS_SGS26NXP - - c.2115dup p.Val706ArgfsTer6 p.V706Rfs*6 ENST00000372080 11/11 36 14 10 15 13 0 CEL,frameshift_variant,p.Val706ArgfsTer6,ENST00000372080,NM_001807.4; C ENSG00000170835 ENST00000372080 Transcript frameshift_variant 2123-2124/2384 2107-2108/2271 703/756 A/AX gcc/gCcc rs778517731,TMP_ESP_9_135946988_135946988 1 1 CEL HGNC HGNC:1848 protein_coding YES CCDS43896.1 ENSP00000361151 X6R868 UPI000013E8C6 NM_001807.4 11/11 Pfam_domain:PF16058,hmmpanther:PTHR43903,hmmpanther:PTHR43903:SF1,mobidb-lite 0.01216 0.01297 HIGH 1 insertion 5 8 1 PASS GGC . . 133071600 ADAMTSL2 . GRCh38 chr9 133568473 133568473 + Missense_Mutation SNP C C T novel 7316-2594 BS_SGS26NXP C C c.2075C>T p.Ser692Leu p.S692L ENST00000354484 14/19 67 35 28 40 39 0 ADAMTSL2,missense_variant,p.Ser801Leu,ENST00000393061,;ADAMTSL2,missense_variant,p.Ser692Leu,ENST00000354484,NM_001145320.1;ADAMTSL2,missense_variant,p.Ser692Leu,ENST00000393060,NM_014694.3; T ENSG00000197859 ENST00000354484 Transcript missense_variant 2632/4068 2075/2856 692/951 S/L tCg/tTg 1 1 ADAMTSL2 HGNC HGNC:14631 protein_coding YES CCDS6976.1 ENSP00000346478 Q86TH1 UPI000018CEA2 NM_001145320.1 deleterious(0) possibly_damaging(0.803) 14/19 Gene3D:2.20.100.10,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF147,SMART_domains:SM00209,Superfamily_domains:SSF82895 MODERATE 1 SNV 1 1 PASS TCG . . 133568473 CAMSAP1 . GRCh38 chr9 135881706 135881706 + Missense_Mutation SNP C C T rs770689161 7316-2594 BS_SGS26NXP C C c.512G>A p.Arg171His p.R171H ENST00000389532 3/17 70 46 23 33 33 0 CAMSAP1,missense_variant,p.Arg171His,ENST00000389532,NM_015447.3;CAMSAP1,missense_variant,p.Arg171His,ENST00000409386,;CAMSAP1,5_prime_UTR_variant,,ENST00000312405,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000460094,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000468150,; T ENSG00000130559 ENST00000389532 Transcript missense_variant 577/7696 512/4809 171/1602 R/H cGc/cAc rs770689161 1 -1 CAMSAP1 HGNC HGNC:19946 protein_coding YES CCDS35176.2 ENSP00000374183 Q5T5Y3 UPI0000EDA283 NM_015447.3 deleterious(0.03) probably_damaging(0.939) 3/17 hmmpanther:PTHR21595:SF3,hmmpanther:PTHR21595 MODERATE 1 SNV 5 PASS GCG . . 1.975e-05 3.429e-05 4.382e-05 135881706 CCDC3 . GRCh38 chr10 12898439 12898439 + Missense_Mutation SNP G G A 7316-2594 BS_SGS26NXP G G c.790C>T p.Arg264Cys p.R264C ENST00000378825 3/3 74 47 25 40 40 0 CCDC3,missense_variant,p.Arg139Cys,ENST00000378839,NM_001282658.1;CCDC3,missense_variant,p.Arg264Cys,ENST00000378825,NM_031455.3; A ENSG00000151468 ENST00000378825 Transcript missense_variant 917/2731 790/813 264/270 R/C Cgc/Tgc COSM5186300,COSM3414816 1 -1 CCDC3 HGNC HGNC:23813 protein_coding YES CCDS7093.1 ENSP00000368102 Q9BQI4 UPI000006E69C NM_031455.3 deleterious_low_confidence(0.03) benign(0.241) 3/3 1,1 MODERATE 1 SNV 1 1,1 PASS CGC . . 12898439 ZNF248 . GRCh38 chr10 37832307 37832307 + Missense_Mutation SNP T T C novel 7316-2594 BS_SGS26NXP T T c.1048A>G p.Lys350Glu p.K350E ENST00000395867 6/6 100 63 35 41 41 0 ZNF248,missense_variant,p.Lys350Glu,ENST00000395867,NM_021045.2;ZNF248,missense_variant,p.Lys350Glu,ENST00000357328,NM_001267597.1,NM_001352482.1,NM_001352474.1,NM_001352473.1,NM_001352484.1,NM_001352483.1,NM_001352470.1,NM_001352471.1,NM_001352469.1,NM_001352491.1;ZNF248,intron_variant,,ENST00000374648,;ZNF248,intron_variant,,ENST00000611278,NM_001267605.1,NM_001267606.1;ZNF248,intron_variant,,ENST00000615949,NM_001267607.1;ZNF248,downstream_gene_variant,,ENST00000395873,;ZNF248,intron_variant,,ENST00000494133,;ZNF248,intron_variant,,ENST00000485560,; C ENSG00000198105 ENST00000395867 Transcript missense_variant 1599/5141 1048/1740 350/579 K/E Aag/Gag 1 -1 ZNF248 HGNC HGNC:13041 protein_coding YES CCDS7194.1 ENSP00000379208 Q8NDW4 A2RUI7 UPI000006CF12 NM_021045.2 deleterious(0) possibly_damaging(0.483) 6/6 Gene3D:2.20.28.10,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF68,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTT . . 37832307 UNC5B . GRCh38 chr10 71293824 71293824 + Missense_Mutation SNP G G A rs144792154 7316-2594 BS_SGS26NXP G G c.2066G>A p.Arg689His p.R689H ENST00000335350 13/17 70 39 30 42 42 0 UNC5B,missense_variant,p.Arg689His,ENST00000335350,NM_170744.4;UNC5B,missense_variant,p.Arg678His,ENST00000373192,NM_001244889.1; A ENSG00000107731 ENST00000335350 Transcript missense_variant 2482/6841 2066/2838 689/945 R/H cGc/cAc rs144792154 1 1 UNC5B HGNC HGNC:12568 protein_coding YES CCDS7309.1 ENSP00000334329 Q8IZJ1 UPI000000D753 NM_170744.4 tolerated(0.12) benign(0) 13/17 hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF6 0.0001163 MODERATE 1 SNV 1 PASS CGC . . 0.0001743 6.736e-05 0.0003596 0.0002049 0.000201 0.0005566 6.607e-05 71293824 PDE6C . GRCh38 chr10 93659133 93659135 + In_Frame_Del DEL CTG CTG - novel 7316-2594 BS_SGS26NXP CTG CTG c.2176_2178del p.Ala726del p.A726del ENST00000371447 18/22 92 82 6 44 43 0 PDE6C,inframe_deletion,p.Ala726del,ENST00000371447,NM_006204.3;PDE6C,upstream_gene_variant,,ENST00000475427,; - ENSG00000095464 ENST00000371447 Transcript inframe_deletion 2312-2314/3307 2174-2176/2577 725-726/858 SA/S tCTGct/tct 1 1 PDE6C HGNC HGNC:8787 protein_coding YES CCDS7429.1 ENSP00000360502 P51160 UPI000013C84A NM_006204.3 18/22 cd00077,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF23,Gene3D:1.10.1300.10,Pfam_domain:PF00233,SMART_domains:SM00471,Superfamily_domains:SSF109604,Prints_domain:PR00387 MODERATE 1 deletion 1 2 1 PASS GTCTGC . . 93659132 PLCE1 . GRCh38 chr10 94322028 94322028 + Missense_Mutation SNP G G A rs767860128 7316-2594 BS_SGS26NXP G G c.6470G>A p.Arg2157His p.R2157H ENST00000371380 29/32 64 32 31 44 44 0 PLCE1,missense_variant,p.Arg2157His,ENST00000371380,NM_016341.3,NM_001288989.1;PLCE1,missense_variant,p.Arg1849His,ENST00000371375,;PLCE1,missense_variant,p.Arg1849His,ENST00000371385,NM_001165979.2;PLCE1,upstream_gene_variant,,ENST00000464214,; A ENSG00000138193 ENST00000371380 Transcript missense_variant 6705/12024 6470/6909 2157/2302 R/H cGc/cAc rs767860128 1 1 PLCE1 HGNC HGNC:17175 protein_coding YES CCDS41552.1 ENSP00000360431 Q9P212 UPI00001F93EE NM_016341.3,NM_001288989.1 deleterious(0.01) probably_damaging(0.998) 29/32 PROSITE_profiles:PS50200,cd01780,hmmpanther:PTHR10336:SF6,hmmpanther:PTHR10336,Pfam_domain:PF00788,Gene3D:3.10.20.90,SMART_domains:SM00314,Superfamily_domains:SSF54236 MODERATE 1 SNV 1 1 PASS CGC . . 3.25e-05 4.484e-05 5.375e-05 3.249e-05 94322028 CYP2C58P . GRCh38 chr10 94866191 94866191 + Splice_Region DEL T T - rs997390211 7316-2594 BS_SGS26NXP T T n.321del ENST00000436281 2/3 51 30 16 38 37 0 CYP2C58P,splice_region_variant,,ENST00000436281,; - ENSG00000235199 ENST00000436281 Transcript splice_region_variant,non_coding_transcript_exon_variant 321/475 rs997390211 1 -1 CYP2C58P HGNC HGNC:39969 processed_pseudogene YES 2/3 LOW 1 deletion PASS AGTT . . 94866190 WBP1L . GRCh38 chr10 102812697 102812697 + Missense_Mutation SNP T T A 7316-2594 BS_SGS26NXP T T c.458T>A p.Leu153Gln p.L153Q ENST00000448841 4/4 78 53 24 38 38 0 WBP1L,missense_variant,p.Leu132Gln,ENST00000369889,NM_017787.4;WBP1L,missense_variant,p.Leu153Gln,ENST00000448841,NM_001083913.1;,regulatory_region_variant,,ENSR00000032807,; A ENSG00000166272 ENST00000448841 Transcript missense_variant 542/4085 458/1092 153/363 L/Q cTg/cAg COSM6229292,COSM6229291 1 1 WBP1L HGNC HGNC:23510 protein_coding YES CCDS44473.1 ENSP00000414721 Q9NX94 UPI0000EE3B72 NM_001083913.1 tolerated(0.18) benign(0) 4/4 Low_complexity_(Seg):seg,hmmpanther:PTHR16209:SF4,hmmpanther:PTHR16209 1,1 MODERATE 1 SNV 2 1,1 PASS CTG . . 102812697 PNLIP . GRCh38 chr10 116545958 116545958 + Splice_Region SNP G G A novel 7316-2594 BS_SGS26NXP G G c.-1G>A ENST00000369221 1/13 72 50 21 42 42 0 PNLIP,splice_region_variant,,ENST00000369221,NM_000936.2;PNLIP,upstream_gene_variant,,ENST00000470562,; A ENSG00000175535 ENST00000369221 Transcript splice_region_variant,5_prime_UTR_variant 28/1483 1 1 PNLIP HGNC HGNC:9155 protein_coding YES CCDS7594.1 ENSP00000358223 P16233 UPI000004F1A0 NM_000936.2 1/13 LOW 1 SNV 1 1 PASS CGG . . 116545958 FAM204A . GRCh38 chr10 118335618 118335618 + Frame_Shift_Del DEL T T - novel 7316-2594 BS_SGS26NXP T T c.258del p.Lys86AsnfsTer25 p.K86Nfs*25 ENST00000369183 4/9 101 51 44 41 39 0 FAM204A,frameshift_variant,p.Lys86AsnfsTer25,ENST00000369183,NM_022063.2;FAM204A,frameshift_variant,p.Lys86AsnfsTer25,ENST00000369170,;FAM204A,frameshift_variant,p.Lys86AsnfsTer25,ENST00000369172,NM_001134672.1;FAM204A,non_coding_transcript_exon_variant,,ENST00000469758,;FAM204A,frameshift_variant,p.Lys86AsnfsTer25,ENST00000470476,;FAM204A,non_coding_transcript_exon_variant,,ENST00000490048,;FAM204A,downstream_gene_variant,,ENST00000487269,; - ENSG00000165669 ENST00000369183 Transcript frameshift_variant 518/13889 258/702 86/233 K/X aaA/aa 1 -1 FAM204A HGNC HGNC:25794 protein_coding YES CCDS7605.1 ENSP00000358183 Q9H8W3 UPI0000073C7E NM_022063.2 4/9 mobidb-lite,hmmpanther:PTHR14386 HIGH 1 deletion 1 PASS TGTT . . 118335617 PWWP2B . GRCh38 chr10 132405585 132405585 + Missense_Mutation SNP G G A rs79720492 7316-2594 BS_SGS26NXP G G c.1085G>A p.Arg362Gln p.R362Q ENST00000305233 2/3 73 44 25 40 40 0 PWWP2B,missense_variant,p.Arg362Gln,ENST00000305233,NM_138499.3;PWWP2B,missense_variant,p.Arg362Gln,ENST00000631148,NM_001098637.1;,regulatory_region_variant,,ENSR00000035402,; A ENSG00000171813 ENST00000305233 Transcript missense_variant 1144/2651 1085/1773 362/590 R/Q cGg/cAg rs79720492 1 1 PWWP2B HGNC HGNC:25150 protein_coding YES CCDS7667.2 ENSP00000306324 Q6NUJ5 UPI00001D7FE3 NM_138499.3 tolerated(0.11) benign(0.001) 2/3 hmmpanther:PTHR23068,hmmpanther:PTHR23068:SF6,mobidb-lite 0.0114 0.0416 0.0029 0.05069 MODERATE 1 SNV 1 PASS CGG . . 0.003389 0.05041 0.001708 4.901e-05 0.001907 0.0002935 132405585 STK33 . GRCh38 chr11 8457486 8457487 + Splice_Region INS - TA TA novel 7316-2594 BS_SGS26NXP - - c.559-9_559-8dup ENST00000447869 49 8 36 41 39 0 STK33,splice_region_variant,,ENST00000315204,NM_030906.3;STK33,splice_region_variant,,ENST00000358872,NM_001289059.1;STK33,splice_region_variant,,ENST00000396672,NM_001289061.1,NM_001352393.1;STK33,splice_region_variant,,ENST00000418597,;STK33,splice_region_variant,,ENST00000422559,;STK33,splice_region_variant,,ENST00000447869,;STK33,splice_region_variant,,ENST00000524760,;STK33,splice_region_variant,,ENST00000534493,NM_001289058.1;STK33,upstream_gene_variant,,ENST00000444064,;STK33,downstream_gene_variant,,ENST00000457885,;STK33,intron_variant,,ENST00000526517,;STK33,upstream_gene_variant,,ENST00000473980,;STK33,splice_region_variant,,ENST00000486305,; TA ENSG00000130413 ENST00000447869 Transcript splice_region_variant,intron_variant 1 -1 STK33 HGNC HGNC:14568 protein_coding YES CCDS7789.1 ENSP00000416750 Q9BYT3 UPI000004496E 4/11 LOW 1 insertion 1 PASS ATT . . 8457486 RAB3IL1 . GRCh38 chr11 61902506 61902506 + Missense_Mutation SNP C C T rs1275621288 7316-2594 BS_SGS26NXP C C c.935G>A p.Arg312His p.R312H ENST00000394836 8/10 65 46 19 41 41 0 RAB3IL1,missense_variant,p.Arg312His,ENST00000394836,NM_013401.3;RAB3IL1,missense_variant,p.Arg286His,ENST00000301773,NM_001271686.1;RAB3IL1,upstream_gene_variant,,ENST00000526200,;RAB3IL1,downstream_gene_variant,,ENST00000531922,;RAB3IL1,downstream_gene_variant,,ENST00000530888,;RAB3IL1,upstream_gene_variant,,ENST00000533136,; T ENSG00000167994 ENST00000394836 Transcript missense_variant 1093/2284 935/1149 312/382 R/H cGc/cAc rs1275621288,COSM5458248 1 -1 RAB3IL1 HGNC HGNC:9780 protein_coding YES CCDS8014.1 ENSP00000378313 Q8TBN0 UPI000007260E NM_013401.3 tolerated(0.3) benign(0.006) 8/10 hmmpanther:PTHR14430:SF2,hmmpanther:PTHR14430 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 8.876e-06 7.222e-05 61902506 BEST1 . GRCh38 chr11 61962298 61962298 + Missense_Mutation SNP G G A rs547287155 7316-2594 BS_SGS26NXP G G c.964G>A p.Glu322Lys p.E322K ENST00000449131 9/9 59 51 7 30 30 0 BEST1,missense_variant,p.Glu322Lys,ENST00000449131,NM_001139443.1;BEST1,missense_variant,p.Glu382Lys,ENST00000378043,NM_001300787.1,NM_001300786.1,NM_004183.3;BEST1,3_prime_UTR_variant,,ENST00000534553,;BEST1,3_prime_UTR_variant,,ENST00000526988,;FTH1,intron_variant,,ENST00000529191,;FTH1,intron_variant,,ENST00000529631,;FTH1,intron_variant,,ENST00000530019,;FTH1,downstream_gene_variant,,ENST00000273550,NM_002032.2;FTH1,downstream_gene_variant,,ENST00000526640,;FTH1,downstream_gene_variant,,ENST00000529548,;FTH1,downstream_gene_variant,,ENST00000532601,;FTH1,downstream_gene_variant,,ENST00000620041,;BEST1,3_prime_UTR_variant,,ENST00000524926,;BEST1,non_coding_transcript_exon_variant,,ENST00000524877,;BEST1,downstream_gene_variant,,ENST00000529265,;FTH1,downstream_gene_variant,,ENST00000532829,;FTH1,downstream_gene_variant,,ENST00000533138,;FTH1,downstream_gene_variant,,ENST00000534180,;FTH1,downstream_gene_variant,,ENST00000534719,; A ENSG00000167995 ENST00000449131 Transcript missense_variant 1050/4267 964/1815 322/604 E/K Gag/Aag rs547287155 1 1 BEST1 HGNC HGNC:12703 protein_coding YES CCDS44623.1 ENSP00000399709 O76090 UPI0000232791 NM_001139443.1 tolerated(0.1) possibly_damaging(0.49) 9/9 hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF4 MODERATE 1 SNV 1 1 PASS CGA . . 61962298 GAL3ST3 . GRCh38 chr11 66042878 66042878 + Missense_Mutation SNP C C T rs1484324954 7316-2594 BS_SGS26NXP C C c.925G>A p.Val309Met p.V309M ENST00000312006 3/3 39 21 18 21 21 0 GAL3ST3,missense_variant,p.Val309Met,ENST00000312006,NM_033036.2;GAL3ST3,missense_variant,p.Val309Met,ENST00000527878,;GAL3ST3,downstream_gene_variant,,ENST00000527048,; T ENSG00000175229 ENST00000312006 Transcript missense_variant 1207/2133 925/1296 309/431 V/M Gtg/Atg rs1484324954 1 -1 GAL3ST3 HGNC HGNC:24144 protein_coding YES CCDS8128.1 ENSP00000308591 Q96A11 UPI0000071842 NM_033036.2 tolerated(0.07) possibly_damaging(0.811) 3/3 Gene3D:3.40.50.300,Pfam_domain:PF06990,hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF61 MODERATE 1 SNV 1 PASS ACG . . 66042878 C11orf80 . GRCh38 chr11 66756457 66756457 + Nonsense_Mutation SNP C C T rs1161402707 7316-2594 BS_SGS26NXP C C c.421C>T p.Arg141Ter p.R141* ENST00000360962 3/17 69 36 27 43 43 0 C11orf80,stop_gained,p.Arg92Ter,ENST00000525908,;C11orf80,stop_gained,p.Arg141Ter,ENST00000360962,NM_024650.3;C11orf80,5_prime_UTR_variant,,ENST00000532565,;C11orf80,5_prime_UTR_variant,,ENST00000525449,;C11orf80,5_prime_UTR_variant,,ENST00000534325,;C11orf80,intron_variant,,ENST00000524551,;C11orf80,intron_variant,,ENST00000527634,;C11orf80,intron_variant,,ENST00000540737,NM_001302084.1;C11orf80,intron_variant,,ENST00000642265,;C11orf80,intron_variant,,ENST00000527368,;C11orf80,intron_variant,,ENST00000531400,;C11orf80,upstream_gene_variant,,ENST00000532727,; T ENSG00000173715 ENST00000360962 Transcript stop_gained 421/2034 421/2034 141/677 R/* Cga/Tga rs1161402707 1 1 C11orf80 HGNC HGNC:26197 protein_coding YES CCDS53664.1 ENSP00000354227 A0A0A0MRH1 UPI0001711D28 NM_024650.3 3/17 HIGH 1 SNV 5 PASS CCG . . 2.421e-05 5.527e-05 66756457 ALDH3B2 . GRCh38 chr11 67666577 67666577 + Missense_Mutation SNP C C T rs3741178 7316-2594 BS_SGS26NXP C C c.148G>A p.Ala50Thr p.A50T ENST00000349015 4/10 59 38 21 35 34 0 ALDH3B2,missense_variant,p.Ala50Thr,ENST00000349015,NM_000695.3,NM_001354345.1;ALDH3B2,missense_variant,p.Ala50Thr,ENST00000530069,NM_001031615.1;ALDH3B2,missense_variant,p.Ala50Thr,ENST00000525827,;ALDH3B2,missense_variant,p.Ala50Thr,ENST00000528756,;ALDH3B2,upstream_gene_variant,,ENST00000531248,;ALDH3B2,non_coding_transcript_exon_variant,,ENST00000531881,;ALDH3B2,downstream_gene_variant,,ENST00000533962,;ALDH3B2,non_coding_transcript_exon_variant,,ENST00000534425,; T ENSG00000132746 ENST00000349015 Transcript missense_variant 587/2649 148/1158 50/385 A/T Gca/Aca rs3741178,COSM4599442 1 -1 ALDH3B2 HGNC HGNC:411 protein_coding YES CCDS31622.1 ENSP00000255084 P48448 UPI000013CE83 NM_000695.3,NM_001354345.1 deleterious(0.02) probably_damaging(0.928) 4/10 Low_complexity_(Seg):seg,hmmpanther:PTHR43570,hmmpanther:PTHR43570:SF6,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720 0.0030 0.0008 0.0139 0,1 MODERATE 1 SNV 5 0,1 PASS GCG . . 0.001213 6.546e-05 0.01659 2.698e-05 0.0003654 0.000195 67666577 USP35 . GRCh38 chr11 78209990 78209990 + Missense_Mutation SNP T T G novel 7316-2594 BS_SGS26NXP T T c.2135T>G p.Val712Gly p.V712G ENST00000529308 10/11 61 40 10 37 36 0 USP35,missense_variant,p.Val712Gly,ENST00000529308,NM_020798.2;USP35,missense_variant,p.Val443Gly,ENST00000526425,;USP35,missense_variant,p.Val280Gly,ENST00000530267,;USP35,downstream_gene_variant,,ENST00000528910,;USP35,non_coding_transcript_exon_variant,,ENST00000530535,;USP35,3_prime_UTR_variant,,ENST00000530546,;USP35,downstream_gene_variant,,ENST00000530521,; G ENSG00000118369 ENST00000529308 Transcript missense_variant 2396/4216 2135/3057 712/1018 V/G gTg/gGg 1 1 USP35 HGNC HGNC:20061 protein_coding YES CCDS41693.1 ENSP00000431876 Q9P2H5 UPI0000456553 NM_020798.2 tolerated_low_confidence(0.38) benign(0) 10/11 Gene3D:3.90.70.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR44141,hmmpanther:PTHR44141:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 78209990 ATM . GRCh38 chr11 108248934 108248934 + Frame_Shift_Del DEL T T - rs1275066585 7316-2594 BS_SGS26NXP T T c.1071del p.Phe357LeufsTer33 p.F357Lfs*33 ENST00000278616 9/63 65 31 28 39 37 0 ATM,frameshift_variant,p.Phe357LeufsTer33,ENST00000278616,NM_000051.3;ATM,frameshift_variant,p.Phe357LeufsTer33,ENST00000452508,NM_001351834.1;ATM,frameshift_variant,p.Phe357LeufsTer33,ENST00000527805,;ATM,downstream_gene_variant,,ENST00000527891,;ATM,upstream_gene_variant,,ENST00000525012,;ATM,upstream_gene_variant,,ENST00000533526,; - ENSG00000149311 ENST00000278616 Transcript frameshift_variant,splice_region_variant 1452/13147 1067/9171 356/3056 V/X gTt/gt rs1275066585,COSM6983284,COSM6983283 1 1 ATM HGNC HGNC:795 protein_coding YES CCDS31669.1 ENSP00000278616 Q13315 A0A024R3C7 UPI000016B511 NM_000051.3 9/63 PDB-ENSP_mappings:5np0.A,PDB-ENSP_mappings:5np0.B,PDB-ENSP_mappings:5np1.A,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF96,Superfamily_domains:SSF48371 0,1,1 HIGH 1 deletion 5 4 0,1,1 1 PASS GGTT . . 108248933 NXPE2 . GRCh38 chr11 114706692 114706692 + Missense_Mutation SNP C C T rs978192550 7316-2594 BS_SGS26NXP C C c.1442C>T p.Pro481Leu p.P481L ENST00000389586 6/6 62 44 18 53 51 0 NXPE2,missense_variant,p.Pro481Leu,ENST00000389586,NM_182495.5; T ENSG00000204361 ENST00000389586 Transcript missense_variant 1632/1873 1442/1680 481/559 P/L cCg/cTg rs978192550 1 1 NXPE2 HGNC HGNC:26331 protein_coding YES CCDS44738.1 ENSP00000374237 Q96DL1 UPI0001662547 NM_182495.5 deleterious(0) possibly_damaging(0.812) 6/6 hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF10 MODERATE 1 SNV 5 PASS CCG . . 1.311e-05 4.173e-05 1.707e-05 114706692 IGSF9B . GRCh38 chr11 133935761 133935761 + Missense_Mutation SNP C C T rs1375550934 7316-2594 BS_SGS26NXP C C c.823G>A p.Asp275Asn p.D275N ENST00000533871 7/20 76 38 33 30 30 0 IGSF9B,missense_variant,p.Asp275Asn,ENST00000533871,NM_001277285.1;IGSF9B,missense_variant,p.Asp275Asn,ENST00000321016,;IGSF9B,downstream_gene_variant,,ENST00000533160,;IGSF9B,splice_region_variant,,ENST00000527648,; T ENSG00000080854 ENST00000533871 Transcript missense_variant,splice_region_variant 1054/5050 823/4314 275/1437 D/N Gac/Aac rs1375550934,COSM1352723 1 -1 IGSF9B HGNC HGNC:32326 protein_coding YES CCDS61010.1 ENSP00000436552 Q9UPX0 UPI0002C439DB NM_001277285.1 deleterious(0.04) possibly_damaging(0.551) 7/20 Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR44248,hmmpanther:PTHR44248:SF1,SMART_domains:SM00060,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd00096 0,1 MODERATE 1 SNV 5 0,1 PASS TCG . . 133935761 NCAPD3 . GRCh38 chr11 134208954 134208954 + Splice_Region DEL A A - rs531031092 7316-2594 BS_SGS26NXP A A c.795-3del ENST00000534548 88 50 29 45 43 0 NCAPD3,splice_region_variant,,ENST00000534548,NM_015261.2;NCAPD3,splice_region_variant,,ENST00000525964,;NCAPD3,splice_region_variant,,ENST00000528065,;NCAPD3,splice_region_variant,,ENST00000533155,;NCAPD3,splice_region_variant,,ENST00000534532,; - ENSG00000151503 ENST00000534548 Transcript splice_region_variant,intron_variant rs531031092,TMP_ESP_11_134078848_134078848,COSM5347947 1 -1 NCAPD3 HGNC HGNC:28952 protein_coding YES CCDS31723.1 ENSP00000433681 P42695 UPI00001C1EFE NM_015261.2 6/34 0.0064 0.0113 0.0014 0.001 0.001 0.0143 0.02603 0.02496 0,0,1 LOW 1 deletion 1 0,0,1 1 PASS CTAA . . 0.01889 0.01042 0.03791 0.03183 0.01807 0.007605 0.01744 0.02495 0.02133 134208953 LRRC23 . GRCh38 chr12 6906452 6906452 + Missense_Mutation SNP C C T rs151089767 7316-2594 BS_SGS26NXP C C c.280C>T p.Arg94Cys p.R94C ENST00000443597 4/8 83 55 28 57 57 0 LRRC23,missense_variant,p.Arg94Cys,ENST00000443597,NM_001135217.1;LRRC23,missense_variant,p.Arg94Cys,ENST00000007969,NM_201650.2;LRRC23,missense_variant,p.Arg94Cys,ENST00000433346,;LRRC23,missense_variant,p.Arg94Cys,ENST00000323702,NM_006992.3;LRRC23,missense_variant,p.Arg94Cys,ENST00000622489,;LRRC23,missense_variant,p.Arg94Cys,ENST00000436789,;LRRC23,missense_variant,p.Arg94Cys,ENST00000429740,;LRRC23,missense_variant,p.Arg94Cys,ENST00000415834,;LRRC23,non_coding_transcript_exon_variant,,ENST00000449039,;LRRC23,non_coding_transcript_exon_variant,,ENST00000457146,;LRRC23,missense_variant,p.Ala57Val,ENST00000451681,;LRRC23,missense_variant,p.Ala57Val,ENST00000431207,;LRRC23,missense_variant,p.Ala57Val,ENST00000428946,;LRRC23,non_coding_transcript_exon_variant,,ENST00000486401,; T ENSG00000010626 ENST00000443597 Transcript missense_variant 499/1628 280/1032 94/343 R/C Cgc/Tgc rs151089767 1 1 LRRC23 HGNC HGNC:19138 protein_coding YES CCDS8569.1 ENSP00000390932 Q53EV4 UPI000013C506 NM_001135217.1 deleterious(0.02) possibly_damaging(0.775) 4/8 PROSITE_profiles:PS51450,hmmpanther:PTHR44330,Pfam_domain:PF13516,Gene3D:3.80.10.10,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS GCG . . 2.031e-05 6.534e-05 5.956e-05 5.798e-05 8.954e-06 6906452 ITPR2 . GRCh38 chr12 26681941 26681941 + Missense_Mutation SNP C C T rs1448835914 7316-2594 BS_SGS26NXP C C c.1342G>A p.Ala448Thr p.A448T ENST00000381340 13/57 79 70 6 45 45 0 ITPR2,missense_variant,p.Ala448Thr,ENST00000381340,NM_002223.3; T ENSG00000123104 ENST00000381340 Transcript missense_variant 1759/11405 1342/8106 448/2701 A/T Gcc/Acc rs1448835914 1 -1 ITPR2 HGNC HGNC:6181 protein_coding YES CCDS41764.1 ENSP00000370744 Q14571 UPI00001FB7D2 NM_002223.3 deleterious(0.03) probably_damaging(0.99) 13/57 Gene3D:1.25.10.30,Prints_domain:PR00779,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51,Superfamily_domains:SSF100909 MODERATE 1 SNV 1 1 PASS GCA . . 26681941 INTS13 . GRCh38 chr12 26914458 26914458 + Missense_Mutation SNP G G A rs1385964330 7316-2594 BS_SGS26NXP G G c.1369C>T p.Arg457Cys p.R457C ENST00000261191 12/17 60 47 12 40 40 0 INTS13,missense_variant,p.Arg457Cys,ENST00000261191,NM_018164.2;INTS13,missense_variant,p.Arg110Cys,ENST00000536232,;INTS13,intron_variant,,ENST00000538155,;INTS13,non_coding_transcript_exon_variant,,ENST00000542392,; A ENSG00000064102 ENST00000261191 Transcript missense_variant 1906/2974 1369/2121 457/706 R/C Cgt/Tgt rs1385964330 1 -1 INTS13 HGNC HGNC:20174 protein_coding YES CCDS8708.1 ENSP00000261191 Q9NVM9 UPI0000044950 NM_018164.2 deleterious(0.03) probably_damaging(0.996) 12/17 Pfam_domain:PF10221,hmmpanther:PTHR12955 MODERATE 1 SNV 1 PASS CGG . . 26914458 AC087897.2 . GRCh38 chr12 38546513 38546513 + Splice_Region DEL A A - rs969364366 7316-2594 BS_SGS26NXP A A n.200-5del ENST00000552639 78 32 32 52 51 0 AC087897.2,splice_region_variant,,ENST00000552639,;AC087897.2,upstream_gene_variant,,ENST00000549364,; - ENSG00000258119 ENST00000552639 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs969364366 1 -1 AC087897.2 Clone_based_ensembl_gene lincRNA YES 2/3 LOW 1 deletion 1 PASS AGAA . . 38546512 AC018448.1 . GRCh38 chr12 39059779 39059779 + Splice_Region SNP G G A rs980610629 7316-2594 BS_SGS26NXP G G n.155C>T ENST00000552843 1/3 77 36 39 66 66 0 AC018448.1,splice_region_variant,,ENST00000552843,; A ENSG00000257237 ENST00000552843 Transcript splice_region_variant,non_coding_transcript_exon_variant 155/316 rs980610629 1 -1 AC018448.1 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/3 LOW 1 SNV PASS CGT . . 39059779 DDX23 . GRCh38 chr12 48837628 48837628 + Missense_Mutation SNP G G A rs1306994953 7316-2594 BS_SGS26NXP G G c.649C>T p.Arg217Cys p.R217C ENST00000308025 7/17 79 72 6 29 28 0 DDX23,missense_variant,p.Arg217Cys,ENST00000308025,NM_004818.2;DDX23,missense_variant,p.Arg61Cys,ENST00000550834,;DDX23,downstream_gene_variant,,ENST00000551468,;DDX23,downstream_gene_variant,,ENST00000552512,;DDX23,intron_variant,,ENST00000553182,;DDX23,downstream_gene_variant,,ENST00000552369,;DDX23,downstream_gene_variant,,ENST00000552555,;DDX23,non_coding_transcript_exon_variant,,ENST00000551098,;DDX23,non_coding_transcript_exon_variant,,ENST00000547165,;DDX23,non_coding_transcript_exon_variant,,ENST00000551189,;DDX23,intron_variant,,ENST00000547135,;DDX23,upstream_gene_variant,,ENST00000547290,;DDX23,upstream_gene_variant,,ENST00000547842,;DDX23,upstream_gene_variant,,ENST00000549795,;DDX23,upstream_gene_variant,,ENST00000551331,;DDX23,upstream_gene_variant,,ENST00000552069,;DDX23,upstream_gene_variant,,ENST00000552802,;DDX23,upstream_gene_variant,,ENST00000553065,; A ENSG00000174243 ENST00000308025 Transcript missense_variant 729/3248 649/2463 217/820 R/C Cgc/Tgc rs1306994953 1 -1 DDX23 HGNC HGNC:17347 protein_coding YES CCDS8770.1 ENSP00000310723 Q9BUQ8 A0A024R0Z3 UPI0000073875 NM_004818.2 tolerated(0.08) benign(0.348) 7/17 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CGT . . 48837628 OR10P1 . GRCh38 chr12 55637675 55637675 + Missense_Mutation SNP C C T rs752834026 7316-2594 BS_SGS26NXP C C c.784C>T p.Arg262Trp p.R262W ENST00000309675 1/1 64 37 25 39 39 0 OR10P1,missense_variant,p.Arg262Trp,ENST00000309675,NM_206899.1;AC009779.5,downstream_gene_variant,,ENST00000556606,; T ENSG00000175398 ENST00000309675 Transcript missense_variant 816/995 784/942 262/313 R/W Cgg/Tgg rs752834026,COSM1362902 1 1 OR10P1 HGNC HGNC:15378 protein_coding YES CCDS31828.1 ENSP00000308082 Q8NGE3 UPI0000061E9C NM_206899.1 deleterious(0.03) probably_damaging(0.927) 1/1 PROSITE_profiles:PS50262,cd15225,hmmpanther:PTHR26453:SF194,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS CCG . . 2.439e-05 8.934e-05 1.793e-05 3.249e-05 55637675 PAN2 . GRCh38 chr12 56327636 56327636 + Splice_Region DEL A A - rs3215077 7316-2594 BS_SGS26NXP A A c.652-5del ENST00000425394 61 30 20 36 27 1 PAN2,splice_region_variant,,ENST00000257931,NM_001166279.1;PAN2,splice_region_variant,,ENST00000425394,NM_001127460.2;PAN2,splice_region_variant,,ENST00000440411,NM_014871.4;PAN2,splice_region_variant,,ENST00000547572,;PAN2,splice_region_variant,,ENST00000548043,;PAN2,splice_region_variant,,ENST00000610546,;PAN2,splice_region_variant,,ENST00000547994,;PAN2,splice_region_variant,,ENST00000551359,;PAN2,upstream_gene_variant,,ENST00000547226,;PAN2,downstream_gene_variant,,ENST00000547518,;PAN2,upstream_gene_variant,,ENST00000548982,;PAN2,upstream_gene_variant,,ENST00000549073,;PAN2,upstream_gene_variant,,ENST00000549348,;PAN2,upstream_gene_variant,,ENST00000550555,;PAN2,upstream_gene_variant,,ENST00000552630,;PAN2,upstream_gene_variant,,ENST00000552868,; - ENSG00000135473 ENST00000425394 Transcript splice_region_variant,intron_variant rs3215077,TMP_ESP_12_56721420_56721420,COSM3728962 1 -1 PAN2 HGNC HGNC:20074 protein_coding YES CCDS44922.1 ENSP00000401721 Q504Q3 UPI0000577D0A NM_001127460.2 5/25 0.00727 0.001212 0,0,1 LOW 1 deletion 1 0,0,1 PASS AGAA . . 0.0004925 0.002439 4.059e-05 0.000134 0.0001416 0.0002279 0.0009579 0.001549 56327635 LRP1 . GRCh38 chr12 57184150 57184150 + Missense_Mutation SNP C C T rs1279660671 7316-2594 BS_SGS26NXP C C c.5995C>T p.Arg1999Cys p.R1999C ENST00000243077 37/89 67 46 19 39 39 0 LRP1,missense_variant,p.Arg1999Cys,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000554118,; T ENSG00000123384 ENST00000243077 Transcript missense_variant 6461/14897 5995/13635 1999/4544 R/C Cgc/Tgc rs1279660671,COSM4501829 1 1 LRP1 HGNC HGNC:6692 protein_coding YES CCDS8932.1 ENSP00000243077 Q07954 UPI00001B044F NM_002332.2 deleterious(0) probably_damaging(0.997) 37/89 Gene3D:2.120.10.30,Pfam_domain:PF00058,PROSITE_profiles:PS51120,hmmpanther:PTHR44025,hmmpanther:PTHR44025:SF2,SMART_domains:SM00135,Superfamily_domains:SSF63825 0,1 MODERATE 1 SNV 1 0,1 1 PASS CCG . . 57184150 GLI1 . GRCh38 chr12 57470683 57470683 + Missense_Mutation SNP G G A rs367789336 7316-2594 BS_SGS26NXP G G c.1943G>A p.Arg648His p.R648H ENST00000228682 12/12 65 57 7 41 41 0 GLI1,missense_variant,p.Arg648His,ENST00000228682,NM_005269.2;GLI1,missense_variant,p.Arg607His,ENST00000546141,NM_001167609.1;GLI1,missense_variant,p.Arg520His,ENST00000543426,NM_001160045.1;GLI1,missense_variant,p.Arg607His,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.3;ARHGAP9,downstream_gene_variant,,ENST00000393797,NM_001319850.1;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001319852.1,NM_001080156.2,NM_001319851.1;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000548139,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;MARS,upstream_gene_variant,,ENST00000549133,;GLI1,downstream_gene_variant,,ENST00000527742,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;ARHGAP9,downstream_gene_variant,,ENST00000552953,; A ENSG00000111087 ENST00000228682 Transcript missense_variant 2034/3613 1943/3321 648/1106 R/H cGt/cAt rs367789336,COSM1736472 1 1 GLI1 HGNC HGNC:4317 protein_coding YES CCDS8940.1 ENSP00000228682 P08151 UPI000012B607 NM_005269.2 tolerated(0.19) benign(0) 12/12 hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF2,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGT . . 1.232e-05 0.0001162 9.117e-06 57470683 PTPRB . GRCh38 chr12 70563039 70563039 + Missense_Mutation SNP C C T rs200923003 7316-2594 BS_SGS26NXP C C c.3973G>A p.Ala1325Thr p.A1325T ENST00000334414 16/34 64 32 32 32 32 0 PTPRB,missense_variant,p.Ala1325Thr,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Ala1237Thr,ENST00000550358,;PTPRB,missense_variant,p.Ala1107Thr,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Ala1017Thr,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Ala1017Thr,ENST00000550857,NM_001206971.1;PTPRB,missense_variant,p.Ala1324Thr,ENST00000551525,;PTPRB,missense_variant,p.Ala1204Thr,ENST00000548122,; T ENSG00000127329 ENST00000334414 Transcript missense_variant 4018/12316 3973/6648 1325/2215 A/T Gcc/Acc rs200923003,COSM943145,COSM943144,COSM1586730 1 -1 PTPRB HGNC HGNC:9665 protein_coding YES CCDS44943.1 ENSP00000334928 P23467 UPI00002294FA NM_001109754.2 tolerated(0.77) benign(0.001) 16/34 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 1 PASS GCG . . 1.221e-05 6.544e-05 2.981e-05 5.805e-05 70563039 TCP11L2 . GRCh38 chr12 106346412 106346412 + Missense_Mutation SNP C C T novel 7316-2594 BS_SGS26NXP C C c.1442C>T p.Ala481Val p.A481V ENST00000299045 10/10 76 37 37 34 34 0 TCP11L2,missense_variant,p.Ala481Val,ENST00000299045,NM_152772.2; T ENSG00000166046 ENST00000299045 Transcript missense_variant 1616/2219 1442/1560 481/519 A/V gCa/gTa 1 1 TCP11L2 HGNC HGNC:28627 protein_coding YES CCDS9104.1 ENSP00000299045 Q8N4U5 A0A024RBH4 UPI000006D6D5 NM_152772.2 tolerated(1) benign(0.088) 10/10 hmmpanther:PTHR12832,hmmpanther:PTHR12832:SF17,Pfam_domain:PF05794 MODERATE 1 SNV 1 PASS GCA . . 106346412 CUX2 . GRCh38 chr12 111310260 111310260 + Missense_Mutation SNP C C A rs992603991 7316-2594 BS_SGS26NXP C C c.1478C>A p.Pro493His p.P493H ENST00000261726 15/22 70 34 28 39 39 0 CUX2,missense_variant,p.Pro493His,ENST00000261726,NM_015267.3; A ENSG00000111249 ENST00000261726 Transcript missense_variant 1632/6844 1478/4461 493/1486 P/H cCc/cAc rs992603991 1 1 CUX2 HGNC HGNC:19347 protein_coding YES CCDS41837.1 ENSP00000261726 O14529 UPI00001FBB07 NM_015267.3 tolerated(0.09) possibly_damaging(0.533) 15/22 hmmpanther:PTHR14043:SF5,hmmpanther:PTHR14043 MODERATE 1 SNV 1 1 PASS CCC . . 111310260 CUX2 . GRCh38 chr12 111320356 111320356 + Missense_Mutation SNP G G A rs200046675 7316-2594 BS_SGS26NXP G G c.2347G>A p.Gly783Ser p.G783S ENST00000261726 17/22 63 56 7 38 37 0 CUX2,missense_variant,p.Gly783Ser,ENST00000261726,NM_015267.3; A ENSG00000111249 ENST00000261726 Transcript missense_variant 2501/6844 2347/4461 783/1486 G/S Ggc/Agc rs200046675 1 1 CUX2 HGNC HGNC:19347 protein_coding YES CCDS41837.1 ENSP00000261726 O14529 UPI00001FBB07 NM_015267.3 tolerated(0.1) possibly_damaging(0.84) 17/22 hmmpanther:PTHR14043:SF5,hmmpanther:PTHR14043 MODERATE 1 SNV 1 1 PASS CGG . . 1.777e-05 5.926e-05 1.942e-05 3.286e-05 111320356 SETD1B . GRCh38 chr12 121804752 121804752 + Frame_Shift_Del DEL C C - 7316-2594 BS_SGS26NXP C C c.22del p.His8ThrfsTer27 p.H8Tfs*27 ENST00000604567 2/17 59 51 5 40 37 0 SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000542440,NM_015048.1;SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000604567,;SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000619791,;SETD1B,frameshift_variant,p.His8ThrfsTer27,ENST00000267197,;RHOF,upstream_gene_variant,,ENST00000541657,;RHOF,upstream_gene_variant,,ENST00000546227,;LINC01089,upstream_gene_variant,,ENST00000428029,;LINC01089,upstream_gene_variant,,ENST00000429892,;LINC01089,upstream_gene_variant,,ENST00000535614,;LINC01089,upstream_gene_variant,,ENST00000535643,;LINC01089,upstream_gene_variant,,ENST00000536662,;LINC01089,upstream_gene_variant,,ENST00000537157,;LINC01089,upstream_gene_variant,,ENST00000538335,;LINC01089,upstream_gene_variant,,ENST00000541694,;LINC01089,upstream_gene_variant,,ENST00000542933,;LINC01089,upstream_gene_variant,,ENST00000543167,;LINC01089,upstream_gene_variant,,ENST00000543334,;LINC01089,upstream_gene_variant,,ENST00000545885,;AC084018.1,downstream_gene_variant,,ENST00000609067,;AC084018.2,downstream_gene_variant,,ENST00000613093,;RHOF,upstream_gene_variant,,ENST00000545544,;,regulatory_region_variant,,ENSR00000270548,; - ENSG00000139718 ENST00000604567 Transcript frameshift_variant 83/5969 15/5901 5/1966 H/X caC/ca COSM202522 1 1 SETD1B HGNC HGNC:29187 protein_coding YES ENSP00000474253 Q9UPS6 UPI00021188EB 2/17 Gene3D:3.30.70.330,mobidb-lite,Low_complexity_(Seg):seg 1 HIGH deletion 5 7 1 1 PASS CACC . . 121804751 HCAR1 . GRCh38 chr12 122730252 122730252 + Missense_Mutation SNP C C T rs1443458032 7316-2594 BS_SGS26NXP C C c.88G>A p.Ala30Thr p.A30T ENST00000432564 1/1 66 47 17 43 42 1 HCAR1,missense_variant,p.Ala30Thr,ENST00000432564,NM_032554.3; T ENSG00000196917 ENST00000432564 Transcript missense_variant 592/4768 88/1041 30/346 A/T Gca/Aca rs1443458032 1 -1 HCAR1 HGNC HGNC:4532 protein_coding YES CCDS9236.1 ENSP00000389255 Q9BXC0 UPI000003BC7A NM_032554.3 tolerated(0.08) benign(0.047) 1/1 Transmembrane_helices:TMhelix,cd15201,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF29,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237 MODERATE 1 SNV PASS GCG . . 4.077e-06 2.987e-05 122730252 PITPNM2 . GRCh38 chr12 123010080 123010080 + Splice_Region SNP G G A novel 7316-2594 BS_SGS26NXP G G c.416-3C>T ENST00000320201 74 48 24 31 31 0 PITPNM2,splice_region_variant,,ENST00000280562,NM_001300801.1;PITPNM2,splice_region_variant,,ENST00000320201,NM_020845.2;PITPNM2,splice_region_variant,,ENST00000542749,;PITPNM2,splice_region_variant,,ENST00000546049,;PITPNM2,downstream_gene_variant,,ENST00000542210,;MIR4304,downstream_gene_variant,,ENST00000580964,;PITPNM2,splice_region_variant,,ENST00000451868,;PITPNM2,upstream_gene_variant,,ENST00000436074,; A ENSG00000090975 ENST00000320201 Transcript splice_region_variant,intron_variant 1 -1 PITPNM2 HGNC HGNC:21044 protein_coding YES CCDS9242.1 ENSP00000322218 Q9BZ72 UPI0000070D27 NM_020845.2 4/24 LOW 1 SNV 5 PASS TGT . . 123010080 GOLGA3 . GRCh38 chr12 132798481 132798481 + Splice_Region DEL A A - rs112384794 7316-2594 BS_SGS26NXP A A c.1801-4del ENST00000204726 54 38 13 29 29 0 GOLGA3,splice_region_variant,,ENST00000204726,NM_005895.3;GOLGA3,splice_region_variant,,ENST00000450791,;GOLGA3,splice_region_variant,,ENST00000456883,;GOLGA3,splice_region_variant,,ENST00000545875,NM_001172557.1; - ENSG00000090615 ENST00000204726 Transcript splice_region_variant,intron_variant rs112384794,TMP_ESP_12_133375067_133375067,COSM1605848,COSM1180771,COSM1180770 1 -1 GOLGA3 HGNC HGNC:4426 protein_coding YES CCDS9281.1 ENSP00000204726 Q08378 UPI0000190979 NM_005895.3 8/23 0.04386 0.04471 0,0,1,1,1 LOW 1 deletion 5 0,0,1,1,1 PASS TTAA . . 0.004258 0.002284 0.005201 0.008803 0.004445 0.005644 0.003271 0.007651 0.006339 132798480 PABPC3 . GRCh38 chr13 25097562 25097562 + Missense_Mutation SNP T T C rs201952806 7316-2594 BS_SGS26NXP T T c.1364T>C p.Val455Ala p.V455A ENST00000281589 1/1 64 53 10 56 55 1 PABPC3,missense_variant,p.Val455Ala,ENST00000281589,NM_030979.2;,regulatory_region_variant,,ENSR00000271233,; C ENSG00000151846 ENST00000281589 Transcript missense_variant 1695/3387 1364/1896 455/631 V/A gTa/gCa rs201952806,COSM4591682 1 1 PABPC3 HGNC HGNC:8556 protein_coding YES CCDS9311.1 ENSP00000281589 Q9H361 Q5VX58 UPI00001311AB NM_030979.2 tolerated(0.71) benign(0) 1/1 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,TIGRFAM_domain:TIGR01628 0,1 MODERATE 1 SNV 0,1 PASS GTA . . 25097562 MTUS2 . GRCh38 chr13 29324646 29324646 + Missense_Mutation SNP C C T rs61999321 7316-2594 BS_SGS26NXP C C c.2870C>T p.Thr957Met p.T957M ENST00000612955 7/16 79 52 23 49 49 0 MTUS2,missense_variant,p.Thr957Met,ENST00000612955,NM_001033602.2; T ENSG00000132938 ENST00000612955 Transcript missense_variant 3419/7430 2870/4140 957/1379 T/M aCg/aTg rs61999321,COSM1366285 1 1 MTUS2 HGNC HGNC:20595 protein_coding YES CCDS45022.1 ENSP00000483729 J3KQA9 UPI0000F734AC NM_001033602.2 deleterious(0.03) benign(0.062) 7/16 Gene3D:1.20.58.60,hmmpanther:PTHR24200,hmmpanther:PTHR24200:SF8,mobidb-lite 0.0156 0.0061 0.0173 0.0417 0.0164 0.008293 0.03757 0,1 23251661 MODERATE 1 SNV 5 1,1 PASS ACG . . 0.02779 0.008382 0.01414 0.0752 0.0001283 0.03464 0.03347 0.03176 0.02623 29324646 SLC25A15 . GRCh38 chr13 40807430 40807430 + Frame_Shift_Del DEL T T - novel 7316-2594 BS_SGS26NXP T T c.594del p.Phe198LeufsTer10 p.F198Lfs*10 ENST00000338625 5/7 63 36 26 43 40 0 SLC25A15,frameshift_variant,p.Phe198LeufsTer10,ENST00000338625,NM_014252.3;SLC25A15,downstream_gene_variant,,ENST00000417731,;MIR621,upstream_gene_variant,,ENST00000384919,;SLC25A15,non_coding_transcript_exon_variant,,ENST00000478827,;SLC25A15,downstream_gene_variant,,ENST00000470509,; - ENSG00000102743 ENST00000338625 Transcript frameshift_variant 825/1586 589/906 197/301 F/X Ttt/tt 1 1 SLC25A15 HGNC HGNC:10985 protein_coding YES CCDS9373.1 ENSP00000342267 Q9Y619 UPI0000130E9D NM_014252.3 5/7 PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF615,Gene3D:1.50.40.10,Pfam_domain:PF00153,Superfamily_domains:SSF103506 HIGH 1 deletion 1 5 1 PASS CCTT . . 40807429 ZC3H13 . GRCh38 chr13 45975711 45975712 + Frame_Shift_Ins INS - - TC novel 7316-2594 BS_SGS26NXP - - c.2038_2039dup p.Asp680GlufsTer29 p.D680Efs*29 ENST00000242848 12/19 53 29 20 36 34 0 ZC3H13,frameshift_variant,p.Asp680GlufsTer29,ENST00000242848,NM_001330564.1,NM_001076788.1,NM_001330567.1,NM_001330565.1,NM_001330566.1;ZC3H13,frameshift_variant,p.Asp680GlufsTer29,ENST00000282007,NM_015070.4; TC ENSG00000123200 ENST00000242848 Transcript frameshift_variant 2388-2389/8018 2039-2040/5007 680/1668 D/EX gat/gaGAt 1 -1 ZC3H13 HGNC HGNC:20368 protein_coding YES CCDS81766.1 ENSP00000242848 Q5T200 UPI000046F8EB NM_001330564.1,NM_001076788.1,NM_001330567.1,NM_001330565.1,NM_001330566.1 12/19 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13585:SF5,hmmpanther:PTHR13585 HIGH 1 insertion 5 PASS GAT . . 45975711 ATP7B . GRCh38 chr13 51937342 51937342 + Nonsense_Mutation SNP G G A rs193922109 7316-2594 BS_SGS26NXP G G c.3955C>T p.Arg1319Ter p.R1319* ENST00000242839 19/21 69 62 6 45 45 0 ATP7B,stop_gained,p.Arg1319Ter,ENST00000242839,NM_000053.3;ATP7B,stop_gained,p.Arg1241Ter,ENST00000448424,NM_001330578.1;ATP7B,stop_gained,p.Arg1208Ter,ENST00000400366,NM_001243182.1;ATP7B,stop_gained,p.Arg1112Ter,ENST00000344297,NM_001005918.2;ATP7B,stop_gained,p.Arg1271Ter,ENST00000634844,;ATP7B,stop_gained,p.Arg1254Ter,ENST00000418097,;ATP7B,stop_gained,p.Arg889Ter,ENST00000400370,;ATP7B,upstream_gene_variant,,ENST00000634519,;ATP7B,3_prime_UTR_variant,,ENST00000634308,;ATP7B,3_prime_UTR_variant,,ENST00000634296,;ATP7B,non_coding_transcript_exon_variant,,ENST00000634810,;ATP7B,non_coding_transcript_exon_variant,,ENST00000634620,; A ENSG00000123191 ENST00000242839 Transcript stop_gained 4112/6638 3955/4398 1319/1465 R/* Cga/Tga rs193922109,CM950121,COSM3356404 1 -1 ATP7B HGNC HGNC:870 protein_coding YES CCDS41892.1 ENSP00000242839 P35670 A0A024RDX3 UPI00001FCE15 NM_000053.3 19/21 cd02094,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01525,Superfamily_domains:SSF56784,hmmpanther:PTHR43520,hmmpanther:PTHR43520:SF9 0.0002364 pathogenic 0,0,1 18414213,7626145,9311736,8533760,15952988,10544227,18483695,18034201,8938442,23518715,15024742,11472373,1789787,16545904 HIGH 1 SNV 1 1,1,1 1 PASS CGG . . 8.122e-05 0.0001489 5.798e-05 0.0001253 51937342 NEK5 . GRCh38 chr13 52082315 52082315 + Splice_Region DEL A A - rs779680411 7316-2594 BS_SGS26NXP A A c.1573-3del ENST00000355568 76 30 30 42 35 2 NEK5,splice_region_variant,,ENST00000355568,NM_199289.2;NEK5,splice_region_variant,,ENST00000617045,;NEK5,intron_variant,,ENST00000465811,; - ENSG00000197168 ENST00000355568 Transcript splice_region_variant,intron_variant rs779680411 1 -1 NEK5 HGNC HGNC:7748 protein_coding YES CCDS31979.1 ENSP00000347767 Q6P3R8 UPI0000227E77 NM_199289.2 17/21 0.01777 0.007463 LOW 1 deletion 1 PASS CTAA . . 0.04494 0.05078 0.0571 0.03907 0.04841 0.03463 0.04088 0.04195 0.04641 52082314 UGGT2 . GRCh38 chr13 95927339 95927339 + Splice_Region DEL A A - 7316-2594 BS_SGS26NXP A A c.1978-3del ENST00000376747 87 46 33 49 45 0 UGGT2,splice_region_variant,,ENST00000376747,NM_020121.3; - ENSG00000102595 ENST00000376747 Transcript splice_region_variant,intron_variant COSM5518047 1 -1 UGGT2 HGNC HGNC:15664 protein_coding YES CCDS9480.1 ENSP00000365938 Q9NYU1 UPI00001FC9AA NM_020121.3 17/38 1 LOW 1 deletion 1 1 PASS CTAA . . 95927338 CARMIL3 . GRCh38 chr14 24062784 24062784 + Missense_Mutation SNP C C T rs1000736951 7316-2594 BS_SGS26NXP C C c.2644C>T p.Arg882Trp p.R882W ENST00000342740 29/40 37 32 5 37 37 0 CARMIL3,missense_variant,p.Arg882Trp,ENST00000342740,NM_138360.3;CARMIL3,non_coding_transcript_exon_variant,,ENST00000559694,;CARMIL3,non_coding_transcript_exon_variant,,ENST00000560349,;CARMIL3,downstream_gene_variant,,ENST00000561354,; T ENSG00000186648 ENST00000342740 Transcript missense_variant 2798/4597 2644/4119 882/1372 R/W Cgg/Tgg rs1000736951 1 1 CARMIL3 HGNC HGNC:20272 protein_coding YES CCDS32054.1 ENSP00000340467 Q8ND23 UPI0000DBEF11 NM_138360.3 tolerated(0.07) benign(0) 29/40 Pfam_domain:PF16000,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF43,mobidb-lite MODERATE 1 SNV 5 PASS CCG . . 24062784 MIA2 . GRCh38 chr14 39240643 39240643 + Missense_Mutation SNP C C T rs777611456 7316-2594 BS_SGS26NXP C C c.332C>T p.Thr111Met p.T111M ENST00000553728 3/28 48 20 27 46 45 0 MIA2,missense_variant,p.Thr111Met,ENST00000553728,;MIA2,missense_variant,p.Thr111Met,ENST00000640607,;MIA2,missense_variant,p.Thr111Met,ENST00000280082,NM_054024.3;MIA2,downstream_gene_variant,,ENST00000557148,;MIA2,downstream_gene_variant,,ENST00000555143,; T ENSG00000150527 ENST00000553728 Transcript missense_variant 545/4392 332/4020 111/1339 T/M aCg/aTg rs777611456,COSM4050800 1 1 MIA2 HGNC HGNC:18432 protein_coding ENSP00000452252 G3V599 UPI00021CF1EF deleterious(0) possibly_damaging(0.734) 3/28 hmmpanther:PTHR23158:SF38,hmmpanther:PTHR23158,Gene3D:2.30.30.40,Superfamily_domains:SSF50044 0,1 MODERATE SNV 5 0,1 PASS ACG . . 2.458e-05 0.0001202 1.805e-05 39240643 AL137191.1 . GRCh38 chr14 63123767 63123767 + Splice_Region DEL A A - rs199742752 7316-2594 BS_SGS26NXP A A n.87-7del ENST00000554921 46 23 15 29 23 0 AL137191.1,splice_region_variant,,ENST00000554921,;PARP1P2,downstream_gene_variant,,ENST00000556806,; - ENSG00000259093 ENST00000554921 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs199742752 1 -1 AL137191.1 Clone_based_ensembl_gene lincRNA YES 1/1 LOW 1 deletion 2 PASS GGAA . . 63123766 CCDC177 . GRCh38 chr14 69572380 69572380 + Missense_Mutation SNP G G A novel 7316-2594 BS_SGS26NXP G G c.1243C>T p.Arg415Trp p.R415W ENST00000599174 2/2 45 21 23 40 40 0 CCDC177,missense_variant,p.Arg415Trp,ENST00000599174,NM_001271507.1;,regulatory_region_variant,,ENSR00000070234,; A ENSG00000267909 ENST00000599174 Transcript missense_variant 1567/4131 1243/2124 415/707 R/W Cgg/Tgg 1 -1 CCDC177 HGNC HGNC:23243 protein_coding YES CCDS59245.1 ENSP00000469474 Q9NQR7 UPI0000D62424 NM_001271507.1 deleterious(0.02) probably_damaging(0.97) 2/2 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR33663,hmmpanther:PTHR33663:SF1,Pfam_domain:PF15558 MODERATE 1 SNV 3 PASS CGC . . 69572380 AC016526.1 . GRCh38 chr14 76281156 76281156 + Splice_Region DEL A A - rs1271887690 7316-2594 BS_SGS26NXP A A n.310-3del ENST00000555465 46 22 19 36 35 0 AC016526.1,splice_region_variant,,ENST00000555465,;AC016526.3,non_coding_transcript_exon_variant,,ENST00000624275,; - ENSG00000258402 ENST00000555465 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1271887690 1 -1 AC016526.1 Clone_based_ensembl_gene lincRNA YES 2/2 LOW 1 deletion 3 PASS CTAA . . 76281155 GOLGA8S . GRCh38 chr15 23364719 23364719 + Missense_Mutation SNP A A G rs571480938 7316-2594 BS_SGS26NXP A A c.1547A>G p.Asp516Gly p.D516G ENST00000562295 18/19 47 38 9 35 35 0 GOLGA8S,missense_variant,p.Asp516Gly,ENST00000562295,;RN7SL536P,downstream_gene_variant,,ENST00000612366,;GOLGA8S,splice_region_variant,,ENST00000604046,; G ENSG00000261739 ENST00000562295 Transcript missense_variant,splice_region_variant 1547/1878 1547/1878 516/625 D/G gAt/gGt rs571480938 1 1 GOLGA8S HGNC HGNC:44409 protein_coding YES ENSP00000455298 H3BPF8 UPI00024672CC tolerated(1) benign(0) 18/19 hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF59,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GAT . . 0.03749 0.08983 0.032 0.01469 0.03605 0.01538 0.04713 0.04781 0.02096 23364719 EXD1 . GRCh38 chr15 41184447 41184447 + Missense_Mutation SNP C C A rs1292908338 7316-2594 BS_SGS26NXP C C c.1203G>T p.Glu401Asp p.E401D ENST00000458580 12/12 77 47 27 31 31 0 EXD1,missense_variant,p.Glu343Asp,ENST00000314992,NM_152596.3;EXD1,missense_variant,p.Glu401Asp,ENST00000458580,NM_001286441.1;EXD1,non_coding_transcript_exon_variant,,ENST00000558881,; A ENSG00000178997 ENST00000458580 Transcript missense_variant 1469/2177 1203/1719 401/572 E/D gaG/gaT rs1292908338 1 -1 EXD1 HGNC HGNC:28507 protein_coding YES CCDS66738.1 ENSP00000415056 Q8NHP7 UPI000191512C NM_001286441.1 tolerated(0.2) benign(0.001) 12/12 hmmpanther:PTHR12124,hmmpanther:PTHR12124:SF42 MODERATE 1 SNV 2 PASS TCT . . 4.061e-06 3.249e-05 41184447 MGA . GRCh38 chr15 41736411 41736411 + Missense_Mutation SNP C C T rs775830123 7316-2594 BS_SGS26NXP C C c.4147C>T p.Arg1383Trp p.R1383W ENST00000219905 13/24 64 38 25 43 43 0 MGA,missense_variant,p.Arg1383Trp,ENST00000566586,;MGA,missense_variant,p.Arg1383Trp,ENST00000219905,NM_001164273.1;MGA,missense_variant,p.Arg1383Trp,ENST00000570161,;MGA,missense_variant,p.Arg1383Trp,ENST00000545763,NM_001080541.2;MGA,intron_variant,,ENST00000564190,; T ENSG00000174197 ENST00000219905 Transcript missense_variant 4328/12042 4147/9198 1383/3065 R/W Cgg/Tgg rs775830123 1 1 MGA HGNC HGNC:14010 protein_coding YES CCDS55959.1 ENSP00000219905 Q8IWI9 UPI0001B2337E NM_001164273.1 tolerated(0.1) possibly_damaging(0.446) 13/24 hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32,mobidb-lite MODERATE 1 SNV 5 PASS CCG . . 2.844e-05 4.478e-05 6.498e-05 41736411 TMEM87A . GRCh38 chr15 42211756 42211756 + Splice_Region DEL A A - rs367909084 7316-2594 BS_SGS26NXP A A c.1627-7del ENST00000389834 81 39 33 37 32 2 TMEM87A,splice_region_variant,,ENST00000389834,NM_015497.4;TMEM87A,splice_region_variant,,ENST00000448392,NM_001286487.1;VPS39,upstream_gene_variant,,ENST00000318006,NM_015289.3;VPS39,upstream_gene_variant,,ENST00000348544,NM_001301138.1;AC036103.1,intron_variant,,ENST00000563846,;AC036103.1,downstream_gene_variant,,ENST00000561800,;VPS39,upstream_gene_variant,,ENST00000568357,;TMEM87A,splice_region_variant,,ENST00000568067,; - ENSG00000103978 ENST00000389834 Transcript splice_region_variant,intron_variant rs367909084,TMP_ESP_15_42503954_42503955,COSM1608368 1 -1 TMEM87A HGNC HGNC:24522 protein_coding YES CCDS32205.1 ENSP00000374484 Q8NBN3 UPI0000073A7E NM_015497.4 19/19 0.2235 0.2078 0,0,1 LOW deletion 2 0,0,1 PASS GGAA . . 0.1678 0.2183 0.2003 0.2133 0.1697 0.1537 0.1388 0.1813 0.2044 42211755 TRIM69 . GRCh38 chr15 44755084 44755084 + Frame_Shift_Del DEL G G - novel 7316-2594 BS_SGS26NXP G G c.191del p.Cys64LeufsTer37 p.C64Lfs*37 ENST00000559390 3/8 100 62 32 45 45 0 TRIM69,frameshift_variant,p.Cys64LeufsTer37,ENST00000559390,;TRIM69,frameshift_variant,p.Cys64LeufsTer37,ENST00000329464,NM_182985.4;TRIM69,intron_variant,,ENST00000338264,NM_080745.4;TRIM69,intron_variant,,ENST00000558329,NM_001301145.1;TRIM69,intron_variant,,ENST00000560442,NM_001301144.1;TRIM69,intron_variant,,ENST00000561043,NM_001301146.1;TRIM69,upstream_gene_variant,,ENST00000561170,;TRIM69,non_coding_transcript_exon_variant,,ENST00000558173,;,regulatory_region_variant,,ENSR00000277319,; - ENSG00000185880 ENST00000559390 Transcript frameshift_variant 1119/2486 191/1503 64/500 C/X tGt/tt 1 1 TRIM69 HGNC HGNC:17857 protein_coding YES CCDS32220.1 ENSP00000453177 Q86WT6 UPI0000246EB4 3/8 Gene3D:3.30.40.10,Pfam_domain:PF15227,PROSITE_patterns:PS00518,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF286,SMART_domains:SM00184,Superfamily_domains:SSF57850,cd16611 HIGH 1 deletion 2 PASS CTGT . . 44755083 AC084757.2 . GRCh38 chr15 48729189 48729189 + Splice_Region DEL A A - rs1468853007 7316-2594 BS_SGS26NXP A A n.434-3del ENST00000559165 86 48 28 47 43 1 AC084757.2,splice_region_variant,,ENST00000559165,;CEP152,intron_variant,,ENST00000561245,;AC084757.1,downstream_gene_variant,,ENST00000559987,; - ENSG00000259469 ENST00000559165 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1468853007 1 -1 AC084757.2 Clone_based_ensembl_gene lincRNA YES 1/1 LOW 1 deletion 2 PASS CTAA . . 48729188 SECISBP2L . GRCh38 chr15 49033108 49033108 + Splice_Region DEL A A - rs755246614 7316-2594 BS_SGS26NXP A A c.529-8del ENST00000559471 76 45 19 43 39 0 SECISBP2L,splice_region_variant,,ENST00000261847,NM_014701.3;SECISBP2L,splice_region_variant,,ENST00000380927,;SECISBP2L,splice_region_variant,,ENST00000559424,;SECISBP2L,splice_region_variant,,ENST00000559471,NM_001193489.1;SECISBP2L,downstream_gene_variant,,ENST00000557923,; - ENSG00000138593 ENST00000559471 Transcript splice_region_variant,intron_variant rs755246614,TMP_ESP_15_49325305_49325305 1 -1 SECISBP2L HGNC HGNC:28997 protein_coding YES CCDS53942.1 ENSP00000453854 Q93073 A0A024R5R0 UPI00001C1F8B NM_001193489.1 3/17 0.01032 0.007996 LOW 1 deletion 1 PASS TTAA . . 0.0006867 0.0004257 0.001221 0.0007822 0.001333 0.0009731 0.0004485 0.0005807 0.0007211 49033107 MYO5A . GRCh38 chr15 52376562 52376562 + Splice_Region DEL T T - novel 7316-2594 BS_SGS26NXP T T c.2209-4del ENST00000399231 68 36 28 39 38 0 MYO5A,splice_region_variant,,ENST00000356338,NM_001142495.1;MYO5A,splice_region_variant,,ENST00000358212,;MYO5A,splice_region_variant,,ENST00000399231,NM_000259.3;MYO5A,splice_region_variant,,ENST00000399233,;MYO5A,splice_region_variant,,ENST00000553916,;MYO5A,splice_region_variant,,ENST00000613858,;MYO5A,splice_region_variant,,ENST00000556196,; - ENSG00000197535 ENST00000399231 Transcript splice_region_variant,intron_variant 1 -1 MYO5A HGNC HGNC:7602 protein_coding YES CCDS42037.1 ENSP00000382177 Q9Y4I1 UPI0000E445E1 NM_000259.3 18/40 LOW 1 deletion 1 1 PASS TATT . . 52376561 COMMD4 . GRCh38 chr15 75339108 75339108 + Splice_Region SNP C C T rs758973188 7316-2594 BS_SGS26NXP C C c.301+4C>T ENST00000267935 62 39 21 36 36 0 COMMD4,splice_region_variant,,ENST00000267935,NM_001321844.1,NM_017828.4;COMMD4,splice_region_variant,,ENST00000338995,NM_001321846.1,NM_001284377.1;COMMD4,splice_region_variant,,ENST00000562789,NM_001321848.1,NM_001284379.1;COMMD4,splice_region_variant,,ENST00000564815,NM_001321845.1,NM_001321847.1;COMMD4,splice_region_variant,,ENST00000567195,NM_001284378.1;COMMD4,splice_region_variant,,ENST00000567377,;COMMD4,splice_region_variant,,ENST00000568301,;COMMD4,downstream_gene_variant,,ENST00000561662,;COMMD4,splice_region_variant,,ENST00000480484,;COMMD4,splice_region_variant,,ENST00000562310,;COMMD4,splice_region_variant,,ENST00000562610,;COMMD4,splice_region_variant,,ENST00000567720,;COMMD4,splice_region_variant,,ENST00000569245,;COMMD4,non_coding_transcript_exon_variant,,ENST00000564068,;COMMD4,non_coding_transcript_exon_variant,,ENST00000566843,;COMMD4,non_coding_transcript_exon_variant,,ENST00000563220,;COMMD4,non_coding_transcript_exon_variant,,ENST00000565834,;COMMD4,non_coding_transcript_exon_variant,,ENST00000567399,;COMMD4,non_coding_transcript_exon_variant,,ENST00000567023,;COMMD4,non_coding_transcript_exon_variant,,ENST00000568877,;COMMD4,non_coding_transcript_exon_variant,,ENST00000565517,;COMMD4,intron_variant,,ENST00000567935,;COMMD4,downstream_gene_variant,,ENST00000564587,;COMMD4,downstream_gene_variant,,ENST00000566230,;COMMD4,downstream_gene_variant,,ENST00000568034,; T ENSG00000140365 ENST00000267935 Transcript splice_region_variant,intron_variant rs758973188 1 1 COMMD4 HGNC HGNC:26027 protein_coding YES CCDS10277.1 ENSP00000267935 Q9H0A8 UPI000004A01C NM_001321844.1,NM_017828.4 5/7 LOW 1 SNV 1 PASS ACG . . 1.626e-05 3.584e-05 75339108 PCSK6 . GRCh38 chr15 101432049 101432049 + Nonsense_Mutation SNP G G A rs374285273 7316-2594 BS_SGS26NXP G G c.454C>T p.Arg152Ter p.R152* ENST00000611716 3/22 82 40 40 48 48 0 PCSK6,stop_gained,p.Arg152Ter,ENST00000611716,NM_002570.4;PCSK6,stop_gained,p.Arg152Ter,ENST00000618548,NM_138319.3;PCSK6,stop_gained,p.Arg54Ter,ENST00000398185,NM_001291309.1;PCSK6,stop_gained,p.Arg152Ter,ENST00000611967,NM_138324.2;PCSK6,stop_gained,p.Arg152Ter,ENST00000622483,;PCSK6,stop_gained,p.Arg152Ter,ENST00000619160,;PCSK6,stop_gained,p.Arg152Ter,ENST00000615296,NM_138323.2;PCSK6,stop_gained,p.Arg152Ter,ENST00000331826,NM_138325.3;PCSK6,stop_gained,p.Arg74Ter,ENST00000559417,NM_138322.3;PCSK6,intron_variant,,ENST00000557794,; A ENSG00000140479 ENST00000611716 Transcript stop_gained 623/4409 454/2910 152/969 R/* Cga/Tga rs374285273 1 -1 PCSK6 HGNC HGNC:8569 protein_coding YES CCDS73790.1 ENSP00000482760 P29122 UPI00001311D0 NM_002570.4 3/22 Gene3D:3.40.50.200,hmmpanther:PTHR42884,hmmpanther:PTHR42884:SF8,Low_complexity_(Seg):seg HIGH 1 SNV 1 PASS CGC . . 8.137e-06 8.965e-06 3.263e-05 101432049 FBXL16 . GRCh38 chr16 695833 695833 + Missense_Mutation SNP C C T 7316-2594 BS_SGS26NXP C C c.724G>A p.Ala242Thr p.A242T ENST00000397621 3/6 72 45 25 41 41 0 FBXL16,missense_variant,p.Ala242Thr,ENST00000397621,NM_153350.3;FBXL16,missense_variant,p.Ala242Thr,ENST00000324361,;FBXL16,missense_variant,p.Ala30Thr,ENST00000562563,;Z92544.2,downstream_gene_variant,,ENST00000566927,;FBXL16,upstream_gene_variant,,ENST00000562585,;FBXL16,upstream_gene_variant,,ENST00000562648,;Z92544.2,downstream_gene_variant,,ENST00000575305,;,regulatory_region_variant,,ENSR00000082227,; T ENSG00000127585 ENST00000397621 Transcript missense_variant 1056/3547 724/1440 242/479 A/T Gcg/Acg COSM6418420 1 -1 FBXL16 HGNC HGNC:14150 protein_coding YES CCDS10421.1 ENSP00000380746 Q8N461 UPI0000141371 NM_153350.3 deleterious(0.01) benign(0.113) 3/6 hmmpanther:PTHR44440,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047 1 MODERATE 1 SNV 5 1 PASS GCG . . 695833 ANKS4B . GRCh38 chr16 21233820 21233820 + Missense_Mutation SNP C C T rs754547960 7316-2594 BS_SGS26NXP C C c.83C>T p.Ser28Leu p.S28L ENST00000311620 1/2 58 29 28 39 39 0 ANKS4B,missense_variant,p.Ser28Leu,ENST00000311620,NM_145865.2;,regulatory_region_variant,,ENSR00000084311,; T ENSG00000175311 ENST00000311620 Transcript missense_variant 156/4352 83/1254 28/417 S/L tCg/tTg rs754547960 1 1 ANKS4B HGNC HGNC:26795 protein_coding YES CCDS42130.1 ENSP00000308772 Q8N8V4 UPI000013F1C0 NM_145865.2 deleterious(0.03) benign(0.079) 1/2 PROSITE_profiles:PS50297,cd00204,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF20,Gene3D:1.25.40.20,Superfamily_domains:SSF48403 MODERATE 1 SNV 1 PASS TCG . . 2.44e-05 5.977e-05 3.586e-05 21233820 VWA3A . GRCh38 chr16 22148155 22148155 + Splice_Region SNP G G A rs756294308 7316-2594 BS_SGS26NXP G G c.2840-7G>A ENST00000389398 68 33 33 46 45 0 VWA3A,splice_region_variant,,ENST00000389398,NM_173615.4;VWA3A,splice_region_variant,,ENST00000563755,;VWA3A,splice_region_variant,,ENST00000299840,; A ENSG00000175267 ENST00000389398 Transcript splice_region_variant,intron_variant rs756294308 1 1 VWA3A HGNC HGNC:27088 protein_coding YES CCDS45441.1 ENSP00000374049 A6NCI4 UPI0001663067 NM_173615.4 27/33 LOW 1 SNV 5 PASS CGG . . 5.511e-05 0.0002343 3.277e-05 0.0004384 1.026e-05 0.0001116 22148155 VPS35 . GRCh38 chr16 46674663 46674663 + Splice_Region DEL A A - rs772965052 7316-2594 BS_SGS26NXP A A c.915-3del ENST00000299138 63 16 37 40 31 2 VPS35,splice_region_variant,,ENST00000299138,NM_018206.5;VPS35,splice_region_variant,,ENST00000568642,;AC012186.3,upstream_gene_variant,,ENST00000623850,;VPS35,splice_region_variant,,ENST00000568784,;VPS35,downstream_gene_variant,,ENST00000565228,;VPS35,downstream_gene_variant,,ENST00000569950,; - ENSG00000069329 ENST00000299138 Transcript splice_region_variant,intron_variant rs772965052,COSM1609339 1 -1 VPS35 HGNC HGNC:13487 protein_coding YES CCDS10721.1 ENSP00000299138 Q96QK1 UPI0000138BEF NM_018206.5 8/16 0,1 LOW 1 deletion 1 0,1 1 PASS CTAA . . 0.3807 0.3517 0.3986 0.3969 0.3973 0.3539 0.3835 0.3817 0.3711 46674662 CHD9 . GRCh38 chr16 53245683 53245683 + Missense_Mutation SNP C C T novel 7316-2594 BS_SGS26NXP C C c.3287C>T p.Thr1096Ile p.T1096I ENST00000447540 15/39 101 89 6 58 58 0 CHD9,missense_variant,p.Thr1096Ile,ENST00000566029,NM_025134.4;CHD9,missense_variant,p.Thr1096Ile,ENST00000447540,;CHD9,missense_variant,p.Thr1096Ile,ENST00000564845,NM_001352127.1;CHD9,missense_variant,p.Thr1096Ile,ENST00000398510,NM_001308319.1;CHD9,missense_variant,p.Thr622Ile,ENST00000565803,;CHD9,5_prime_UTR_variant,,ENST00000615216,;CHD9,upstream_gene_variant,,ENST00000565119,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;CHD9,non_coding_transcript_exon_variant,,ENST00000564255,;CHD9,non_coding_transcript_exon_variant,,ENST00000569225,;CHD9,upstream_gene_variant,,ENST00000562806,; T ENSG00000177200 ENST00000447540 Transcript missense_variant 3496/11509 3287/8694 1096/2897 T/I aCc/aTc 1 1 CHD9 HGNC HGNC:25701 protein_coding YES CCDS76865.1 ENSP00000396345 Q3L8U1 UPI0000E02AC8 deleterious(0) possibly_damaging(0.812) 15/39 Pfam_domain:PF00176,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48,Superfamily_domains:SSF52540 MODERATE 1 SNV 5 PASS ACC . . 53245683 PDPR . GRCh38 chr16 70156814 70156814 + Missense_Mutation SNP G G A rs201630866 7316-2594 BS_SGS26NXP G G c.2575G>A p.Ala859Thr p.A859T ENST00000288050 19/19 101 84 12 46 45 0 PDPR,missense_variant,p.Ala859Thr,ENST00000288050,NM_001322117.1,NM_017990.4;PDPR,missense_variant,p.Ala859Thr,ENST00000568530,;PDPR,missense_variant,p.Ala759Thr,ENST00000398122,NM_001322119.1,NM_001322118.1;PDPR,missense_variant,p.Ala217Thr,ENST00000567046,;PDPR,downstream_gene_variant,,ENST00000563930,;PDPR,downstream_gene_variant,,ENST00000567896,;PDPR,downstream_gene_variant,,ENST00000569042,;AC009060.1,intron_variant,,ENST00000566989,;AC009060.1,downstream_gene_variant,,ENST00000502126,;PDPR,non_coding_transcript_exon_variant,,ENST00000562100,;PDPR,3_prime_UTR_variant,,ENST00000565186,;PDPR,3_prime_UTR_variant,,ENST00000564563,; A ENSG00000090857 ENST00000288050 Transcript missense_variant 3532/9255 2575/2640 859/879 A/T Gcc/Acc rs201630866 1 1 PDPR HGNC HGNC:30264 protein_coding YES CCDS45520.1 ENSP00000288050 Q8NCN5 UPI00001FF513 NM_001322117.1,NM_017990.4 tolerated(0.63) benign(0) 19/19 0.0002 0.001 MODERATE 1 SNV 1 PASS CGC . . 0.0001179 0.0001075 0.0005527 70156814 GLG1 . GRCh38 chr16 74503531 74503531 + Missense_Mutation SNP C C A novel 7316-2594 BS_SGS26NXP C C c.774G>T p.Lys258Asn p.K258N ENST00000205061 4/27 86 63 19 42 42 0 GLG1,missense_variant,p.Lys258Asn,ENST00000205061,NM_012201.5;GLG1,missense_variant,p.Lys258Asn,ENST00000422840,NM_001145667.1;GLG1,missense_variant,p.Lys247Asn,ENST00000447066,NM_001145666.1;GLG1,missense_variant,p.Lys258Asn,ENST00000627032,;GLG1,missense_variant,p.Lys59Asn,ENST00000565474,;GLG1,downstream_gene_variant,,ENST00000565260,;GLG1,missense_variant,p.Lys258Asn,ENST00000562090,;GLG1,missense_variant,p.Lys258Asn,ENST00000567951,; A ENSG00000090863 ENST00000205061 Transcript missense_variant,splice_region_variant 794/8261 774/3612 258/1203 K/N aaG/aaT 1 -1 GLG1 HGNC HGNC:4316 protein_coding YES CCDS32485.1 ENSP00000205061 Q92896 UPI00001FFBD9 NM_012201.5 tolerated(0.15) probably_damaging(0.996) 4/27 PROSITE_profiles:PS51289,hmmpanther:PTHR11884,hmmpanther:PTHR11884:SF2,Pfam_domain:PF00839,Gene3D:2.130.10.10 MODERATE 1 SNV 1 PASS CCT . . 74503531 YWHAE . GRCh38 chr17 1364897 1364899 + In_Frame_Del DEL CTC - - novel 7316-2594 BS_SGS26NXP CTC CTC c.224_226del p.Gly75del p.G75del ENST00000264335 2/6 49 13 35 41 37 0 YWHAE,inframe_deletion,p.Gly75del,ENST00000264335,NM_006761.4;YWHAE,inframe_deletion,p.Gly53del,ENST00000571732,;YWHAE,inframe_deletion,p.Gly75del,ENST00000575977,;YWHAE,intron_variant,,ENST00000573026,;YWHAE,upstream_gene_variant,,ENST00000496706,;YWHAE,inframe_deletion,p.Gly54del,ENST00000466227,;YWHAE,inframe_deletion,p.Gly75del,ENST00000573196,;YWHAE,non_coding_transcript_exon_variant,,ENST00000486241,;YWHAE,non_coding_transcript_exon_variant,,ENST00000469398,;YWHAE,non_coding_transcript_exon_variant,,ENST00000489287,; - ENSG00000108953 ENST00000264335 Transcript inframe_deletion 492-494/2211 224-226/768 75-76/255 GE/E gGAGaa/gaa 1 -1 YWHAE HGNC HGNC:12851 protein_coding YES CCDS11001.1 ENSP00000264335 P62258 V9HW98 UPI0000021A46 NM_006761.4 2/6 cd10020,hmmpanther:PTHR18860,hmmpanther:PTHR18860:SF59,PIRSF_domain:PIRSF000868,Gene3D:1.20.190.20,Pfam_domain:PF00244,SMART_domains:SM00101,Superfamily_domains:SSF48445 MODERATE 1 deletion 1 1 PASS TTCTCC . . 1364896 FLCN . GRCh38 chr17 17216395 17216395 + Frame_Shift_Del DEL G G - rs80338683 7316-2594 BS_SGS26NXP G G c.1285del p.His429ThrfsTer39 p.H429Tfs*39 ENST00000285071 11/14 47 18 25 50 48 0 FLCN,frameshift_variant,p.His429ThrfsTer39,ENST00000285071,NM_144997.5;MPRIP,intron_variant,,ENST00000578209,;FLCN,downstream_gene_variant,,ENST00000389169,NM_144606.5;AC055811.2,3_prime_UTR_variant,,ENST00000427497,;FLCN,downstream_gene_variant,,ENST00000466317,;FLCN,downstream_gene_variant,,ENST00000577591,; - ENSG00000154803 ENST00000285071 Transcript frameshift_variant 1740/3638 1285/1740 429/579 H/X Cac/ac rs80338683,CM082680,CD023282 1 -1 FLCN HGNC HGNC:27310 protein_coding YES CCDS32579.1 ENSP00000285071 Q8NFG4 UPI0000071D7A NM_144997.5 11/14 PROSITE_profiles:PS51834,hmmpanther:PTHR31441,Pfam_domain:PF16692 pathogenic 23757202,25326637,12204536,15852235,19562744,20301695 HIGH 1 deletion 1 1,1,1 1 PASS GTGG . . 1.244e-05 5.861e-05 9.228e-06 3.281e-05 17216394 ABHD15 . GRCh38 chr17 29566167 29566167 + Missense_Mutation SNP C C T novel 7316-2594 BS_SGS26NXP C C c.800G>A p.Arg267His p.R267H ENST00000307201 1/2 88 50 35 42 42 0 ABHD15,missense_variant,p.Arg267His,ENST00000307201,NM_198147.2;TP53I13,upstream_gene_variant,,ENST00000301057,NM_138349.2;TP53I13,upstream_gene_variant,,ENST00000578749,;TP53I13,upstream_gene_variant,,ENST00000580183,;TP53I13,upstream_gene_variant,,ENST00000581411,;TP53I13,upstream_gene_variant,,ENST00000582829,;TP53I13,upstream_gene_variant,,ENST00000583940,;ABHD15-AS1,intron_variant,,ENST00000581474,;AC104564.3,upstream_gene_variant,,ENST00000579050,;TP53I13,non_coding_transcript_exon_variant,,ENST00000578073,;TP53I13,upstream_gene_variant,,ENST00000584522,;TP53I13,upstream_gene_variant,,ENST00000577934,;TP53I13,upstream_gene_variant,,ENST00000579674,;TP53I13,upstream_gene_variant,,ENST00000580132,; T ENSG00000168792 ENST00000307201 Transcript missense_variant 971/3592 800/1407 267/468 R/H cGc/cAc 1 -1 ABHD15 HGNC HGNC:26971 protein_coding YES CCDS32602.1 ENSP00000302657 Q6UXT9 UPI00001C1FC9 NM_198147.2 tolerated(0.1) benign(0.166) 1/2 hmmpanther:PTHR10794,hmmpanther:PTHR10794:SF39,Gene3D:3.40.50.1820,Pfam_domain:PF12146,Superfamily_domains:SSF53474 MODERATE 1 SNV 1 PASS GCG . . 29566167 GIT1 . GRCh38 chr17 29574881 29574881 + Missense_Mutation SNP G G A rs1363128714 7316-2594 BS_SGS26NXP G G c.2134C>T p.Arg712Trp p.R712W ENST00000394869 21/21 72 43 28 44 44 0 GIT1,missense_variant,p.Arg703Trp,ENST00000225394,NM_014030.3;GIT1,missense_variant,p.Arg712Trp,ENST00000394869,NM_001085454.1;GIT1,missense_variant,p.Arg689Trp,ENST00000581348,;GIT1,3_prime_UTR_variant,,ENST00000579937,;TP53I13,downstream_gene_variant,,ENST00000301057,NM_138349.2;TP53I13,downstream_gene_variant,,ENST00000378818,;GIT1,downstream_gene_variant,,ENST00000578266,;TP53I13,downstream_gene_variant,,ENST00000578749,;TP53I13,downstream_gene_variant,,ENST00000580183,;TP53I13,downstream_gene_variant,,ENST00000581411,;TP53I13,downstream_gene_variant,,ENST00000582829,;TP53I13,downstream_gene_variant,,ENST00000583940,;GIT1,downstream_gene_variant,,ENST00000585148,;ABHD15-AS1,intron_variant,,ENST00000581474,;AC104564.3,downstream_gene_variant,,ENST00000579050,;GIT1,3_prime_UTR_variant,,ENST00000578670,;GIT1,non_coding_transcript_exon_variant,,ENST00000473217,;GIT1,downstream_gene_variant,,ENST00000491377,;TP53I13,downstream_gene_variant,,ENST00000577934,;TP53I13,downstream_gene_variant,,ENST00000579674,;GIT1,downstream_gene_variant,,ENST00000581925,;GIT1,downstream_gene_variant,,ENST00000586574,;,regulatory_region_variant,,ENSR00000092884,; A ENSG00000108262 ENST00000394869 Transcript missense_variant 2305/3711 2134/2313 712/770 R/W Cgg/Tgg rs1363128714 1 -1 GIT1 HGNC HGNC:4272 protein_coding YES CCDS42290.1 ENSP00000378338 Q9Y2X7 UPI0000E59EEC NM_001085454.1 deleterious(0) possibly_damaging(0.585) 21/21 hmmpanther:PTHR23180:SF193,hmmpanther:PTHR23180,Pfam_domain:PF12205,Gene3D:1.20.120.230 MODERATE 1 SNV 1 PASS CGC . . 5.347e-06 1.221e-05 29574881 NF1 . GRCh38 chr17 31235639 31235642 + Frame_Shift_Del DEL TGTT TGTT - 7316-2594 BS_SGS26NXP TGTT TGTT c.3739_3742del p.Phe1247IlefsTer18 p.F1247Ifs*18 ENST00000358273 28/58 70 46 23 48 48 0 NF1,frameshift_variant,p.Phe1247IlefsTer18,ENST00000358273,NM_001042492.2;NF1,frameshift_variant,p.Phe1247IlefsTer18,ENST00000356175,NM_000267.3;NF1,frameshift_variant,p.Phe913IlefsTer18,ENST00000456735,;NF1,frameshift_variant,p.Phe1281IlefsTer18,ENST00000579081,;NF1,frameshift_variant,p.Phe73IlefsTer18,ENST00000466819,;NF1,frameshift_variant,p.Phe73IlefsTer18,ENST00000479614,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,; - ENSG00000196712 ENST00000358273 Transcript frameshift_variant 4120-4123/12425 3737-3740/8520 1246-1247/2839 LF/X cTGTTt/ct COSM436321,COSM436320 1 1 NF1 HGNC HGNC:7765 protein_coding YES CCDS42292.1 ENSP00000351015 P21359 UPI000012FFAE NM_001042492.2 28/58 PROSITE_profiles:PS50018,cd05130,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF60,SMART_domains:SM00323,Superfamily_domains:SSF48350 1,1 HIGH 1 deletion 1 2 1,1 1 PASS TCTGTTT . . 31235638 NF1 . GRCh38 chr17 31261733 31261733 + Nonsense_Mutation SNP C C T rs760703505 7316-2594 BS_SGS26NXP C C c.4600C>T p.Arg1534Ter p.R1534* ENST00000358273 35/58 68 36 32 32 30 0 NF1,stop_gained,p.Arg1534Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Arg1513Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Arg1179Ter,ENST00000456735,;NF1,stop_gained,p.Arg1547Ter,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000466819,;NF1,3_prime_UTR_variant,,ENST00000479614,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,; T ENSG00000196712 ENST00000358273 Transcript stop_gained 4983/12425 4600/8520 1534/2839 R/* Cga/Tga rs760703505,CM941093,COSM24466,COSM1580305 1 1 NF1 HGNC HGNC:7765 protein_coding YES CCDS42292.1 ENSP00000351015 P21359 UPI000012FFAE NM_001042492.2 35/58 cd05130,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF60,Gene3D:1.10.506.10,SMART_domains:SM00323,Superfamily_domains:SSF48350 likely_pathogenic,pathogenic 0,0,1,1 HIGH 1 SNV 1 1,1,1,1 1 PASS ACG . . 8.126e-06 2.978e-05 8.961e-06 31261733 ZNF385C . GRCh38 chr17 42037863 42037863 + Frame_Shift_Del DEL G G - novel 7316-2594 BS_SGS26NXP G G c.36del p.Ser13AlafsTer61 p.S13Afs*61 ENST00000618554 2/8 81 33 35 36 36 0 ZNF385C,frameshift_variant,p.Ser13AlafsTer61,ENST00000618554,NM_001242704.1;ZNF385C,frameshift_variant,p.Ser92AlafsTer61,ENST00000436535,;C17orf113,downstream_gene_variant,,ENST00000587304,;,regulatory_region_variant,,ENSR00000094328,; - ENSG00000187595 ENST00000618554 Transcript frameshift_variant 36/2596 36/1275 12/424 P/X ccC/cc 1 -1 ZNF385C HGNC HGNC:33722 protein_coding YES CCDS74065.1 ENSP00000480744 Q66K41 UPI0001E6F8A9 NM_001242704.1 2/8 Low_complexity_(Seg):seg,hmmpanther:PTHR23067:SF6,hmmpanther:PTHR23067 HIGH 1 deletion 5 PASS CTGG . . 42037862 LINC00910 . GRCh38 chr17 43388060 43388060 + Splice_Region DEL A A - rs1006344308 7316-2594 BS_SGS26NXP A A n.696-3del ENST00000586231 57 21 19 37 32 0 LINC00910,splice_region_variant,,ENST00000586231,;LINC00910,splice_region_variant,,ENST00000587874,;LINC00910,splice_region_variant,,ENST00000588654,;LINC00910,intron_variant,,ENST00000341011,;LINC00910,intron_variant,,ENST00000592094,;LINC00910,intron_variant,,ENST00000592135,;RNU2-4P,upstream_gene_variant,,ENST00000606190,;,regulatory_region_variant,,ENSR00000094562,; - ENSG00000188825 ENST00000586231 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1006344308 1 -1 LINC00910 HGNC HGNC:44361 lincRNA YES 1/1 LOW 1 deletion 2 PASS CTAA . . 43388059 PLCD3 . GRCh38 chr17 45115183 45115183 + Missense_Mutation SNP C C T rs1042431298 7316-2594 BS_SGS26NXP C C c.1622G>A p.Arg541Gln p.R541Q ENST00000619929 10/15 84 54 26 39 39 0 PLCD3,missense_variant,p.Arg541Gln,ENST00000619929,NM_133373.4;PLCD3,upstream_gene_variant,,ENST00000539433,;MIR6784,upstream_gene_variant,,ENST00000611997,;PLCD3,non_coding_transcript_exon_variant,,ENST00000611986,;PLCD3,non_coding_transcript_exon_variant,,ENST00000615898,;PLCD3,downstream_gene_variant,,ENST00000538988,;PLCD3,upstream_gene_variant,,ENST00000543623,;PLCD3,non_coding_transcript_exon_variant,,ENST00000618022,;PLCD3,downstream_gene_variant,,ENST00000542173,;PLCD3,downstream_gene_variant,,ENST00000546350,; T ENSG00000161714 ENST00000619929 Transcript missense_variant 1710/6107 1622/2370 541/789 R/Q cGg/cAg rs1042431298 1 -1 PLCD3 HGNC HGNC:9061 protein_coding YES CCDS74077.1 ENSP00000479636 Q8N3E9 UPI0000070705 NM_133373.4 tolerated(0.65) benign(0.005) 10/15 cd08630,Gene3D:3.20.20.190,Pfam_domain:PF00387,SMART_domains:SM00149,Superfamily_domains:SSF51695,PROSITE_profiles:PS50008,hmmpanther:PTHR10336:SF33,hmmpanther:PTHR10336 MODERATE 1 SNV 1 PASS CCG . . 45115183 COL1A1 . GRCh38 chr17 50196360 50196360 + Missense_Mutation SNP C C T rs1048944367 7316-2594 BS_SGS26NXP C C c.911G>A p.Arg304His p.R304H ENST00000225964 14/51 69 45 21 51 50 0 COL1A1,missense_variant,p.Arg304His,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000507689,;COL1A1,non_coding_transcript_exon_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000463440,;COL1A1,upstream_gene_variant,,ENST00000471344,;COL1A1,downstream_gene_variant,,ENST00000474644,;COL1A1,upstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,; T ENSG00000108821 ENST00000225964 Transcript missense_variant 1030/6727 911/4395 304/1464 R/H cGt/cAt rs1048944367 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 deleterious(0) probably_damaging(0.994) 14/51 Gene3D:2.160.20.50,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF569,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS ACG . . 4.109e-06 3e-05 50196360 HSF5 . GRCh38 chr17 58488136 58488136 + Missense_Mutation SNP C C T novel 7316-2594 BS_SGS26NXP C C c.139G>A p.Glu47Lys p.E47K ENST00000323777 1/6 62 37 23 42 41 0 HSF5,missense_variant,p.Glu47Lys,ENST00000323777,NM_001080439.2;MTMR4,downstream_gene_variant,,ENST00000323456,NM_004687.4;MTMR4,downstream_gene_variant,,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000578259,;,regulatory_region_variant,,ENSR00000096264,; T ENSG00000176160 ENST00000323777 Transcript missense_variant 249/4094 139/1791 47/596 E/K Gag/Aag 1 -1 HSF5 HGNC HGNC:26862 protein_coding YES CCDS32690.1 ENSP00000313243 Q4G112 UPI000056D414 NM_001080439.2 deleterious(0.01) benign(0.436) 1/6 Low_complexity_(Seg):seg,hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF215,Pfam_domain:PF00447,Gene3D:1.10.10.10,SMART_domains:SM00415,Superfamily_domains:SSF46785 MODERATE 1 SNV 1 PASS TCG . . 58488136 APPBP2 . GRCh38 chr17 60479274 60479274 + Splice_Region DEL A A - 7316-2594 BS_SGS26NXP A A c.380-3del ENST00000083182 86 43 37 45 40 0 APPBP2,splice_region_variant,,ENST00000083182,NM_006380.3,NM_001282476.1;APPBP2,splice_region_variant,,ENST00000590244,;APPBP2,splice_region_variant,,ENST00000588668,;APPBP2,splice_region_variant,,ENST00000589341,; - ENSG00000062725 ENST00000083182 Transcript splice_region_variant,intron_variant COSM1734929 1 -1 APPBP2 HGNC HGNC:622 protein_coding YES CCDS32699.1 ENSP00000083182 Q92624 A0A024QZ47 UPI000006D959 NM_006380.3,NM_001282476.1 3/12 1 LOW 1 deletion 1 1 PASS CTAA . . 60479273 PPM1D . GRCh38 chr17 60663078 60663078 + Frame_Shift_Del DEL T T - rs758630849 7316-2594 BS_SGS26NXP T T c.1349del p.Leu450Ter p.L450* ENST00000305921 6/6 75 46 27 48 45 0 PPM1D,frameshift_variant,p.Leu450Ter,ENST00000305921,NM_003620.3;RNU6-623P,upstream_gene_variant,,ENST00000363143,;PPM1D,3_prime_UTR_variant,,ENST00000392995,; - ENSG00000170836 ENST00000305921 Transcript frameshift_variant 1576/4778 1344/1818 448/605 N/X aaT/aa rs758630849,COSM2793542 1 1 PPM1D HGNC HGNC:9277 protein_coding YES CCDS11625.1 ENSP00000306682 O15297 A0A0S2Z4M2 UPI0000130FE8 NM_003620.3 6/6 0,1 HIGH 1 deletion 1 5 0,1 1 PASS AATT . . 1.625e-05 2.686e-05 3.249e-05 60663077 QRICH2 . GRCh38 chr17 76292329 76292329 + Missense_Mutation SNP C C T rs80109605 7316-2594 BS_SGS26NXP C C c.1900G>A p.Gly634Ser p.G634S ENST00000262765 4/19 72 60 9 40 37 0 QRICH2,missense_variant,p.Gly800Ser,ENST00000636395,;QRICH2,missense_variant,p.Gly634Ser,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; T ENSG00000129646 ENST00000262765 Transcript missense_variant 2080/5357 1900/4992 634/1663 G/S Ggt/Agt rs80109605,COSM3755887 1 -1 QRICH2 HGNC HGNC:25326 protein_coding YES CCDS32741.1 ENSP00000262765 Q9H0J4 UPI000006FECD NM_032134.2 deleterious(0.02) possibly_damaging(0.485) 4/19 0,1 MODERATE 1 SNV 1 0,1 PASS CCA . . 0.0002197 0.0003535 6.068e-05 0.0002391 0.0005417 0.0002094 0.0003708 0.0001652 76292329 INO80C . GRCh38 chr18 35478355 35478356 + Splice_Region DEL AA AA - rs746255872 7316-2594 BS_SGS26NXP AA AA c.488-7_488-6del ENST00000441607 65 28 19 55 46 0 INO80C,splice_region_variant,,ENST00000334598,NM_194281.3;INO80C,splice_region_variant,,ENST00000441607,NM_001098817.1;INO80C,splice_region_variant,,ENST00000586489,NM_001308064.1;INO80C,splice_region_variant,,ENST00000587450,;INO80C,splice_region_variant,,ENST00000591139,;INO80C,splice_region_variant,,ENST00000592173,;AC007998.2,intron_variant,,ENST00000589258,;INO80C,intron_variant,,ENST00000590757,;INO80C,downstream_gene_variant,,ENST00000589273,;INO80C,downstream_gene_variant,,ENST00000283410,;INO80C,downstream_gene_variant,,ENST00000586449,;,regulatory_region_variant,,ENSR00000102220,; - ENSG00000153391 ENST00000441607 Transcript splice_region_variant,intron_variant rs746255872 1 -1 INO80C HGNC HGNC:26994 protein_coding YES CCDS45853.1 ENSP00000391457 Q6PI98 UPI0000201BD0 NM_001098817.1 5/6 LOW 1 deletion 2 PASS GGAAA . . 0.0113 0.0142 0.0157 0.01005 0.01339 0.007117 0.01092 0.01491 0.009633 35478354 C18orf32 . GRCh38 chr18 49483648 49483648 + Missense_Mutation SNP C C T rs372217659 7316-2594 BS_SGS26NXP C C c.101G>A p.Arg34His p.R34H ENST00000613385 2/3 58 31 25 49 47 0 C18orf32,missense_variant,p.Arg34His,ENST00000613385,NM_001199346.1;RPL17-C18orf32,missense_variant,p.Val211Ile,ENST00000584895,NM_001199355.1;C18orf32,missense_variant,p.Arg34His,ENST00000318240,NM_001035005.3;RPL17-C18orf32,missense_variant,p.Val173Ile,ENST00000332968,NM_001199356.1;C18orf32,missense_variant,p.Arg34His,ENST00000582392,;RPL17,downstream_gene_variant,,ENST00000578532,;RPL17,downstream_gene_variant,,ENST00000579248,NM_001199341.1,NM_001199344.1;RPL17,downstream_gene_variant,,ENST00000579408,NM_000985.4;RPL17,downstream_gene_variant,,ENST00000580210,;RPL17,downstream_gene_variant,,ENST00000580261,NM_001035006.2;RPL17,downstream_gene_variant,,ENST00000581373,NM_001199345.1;RPL17,downstream_gene_variant,,ENST00000583637,;RPL17,downstream_gene_variant,,ENST00000618613,NM_001199343.1,NM_001199342.1;RPL17,downstream_gene_variant,,ENST00000618619,NM_001199340.1;MIR1539,upstream_gene_variant,,ENST00000410758,;AC100778.2,downstream_gene_variant,,ENST00000580150,;AC100778.3,upstream_gene_variant,,ENST00000581232,;RPL17-C18orf32,3_prime_UTR_variant,,ENST00000577910,;RPL17,downstream_gene_variant,,ENST00000584364,; T ENSG00000177576 ENST00000613385 Transcript missense_variant 170/5395 101/231 34/76 R/H cGt/cAt rs372217659 1 -1 C18orf32 HGNC HGNC:31690 protein_coding YES CCDS32831.1 ENSP00000480941 Q8TCD1 UPI000007053C NM_001199346.1 tolerated(0.24) benign(0.422) 2/3 hmmpanther:PTHR13456,Pfam_domain:PF14975 0.0001163 MODERATE SNV 2 PASS ACG . . 8.143e-05 6.542e-05 5.991e-05 0.0001345 0.0001828 3.269e-05 49483648 TCF4 . GRCh38 chr18 55631328 55631328 + Missense_Mutation SNP T T C rs1202767371 7316-2594 BS_SGS26NXP T T c.256A>G p.Thr86Ala p.T86A ENST00000398339 2/21 73 48 23 41 41 0 TCF4,missense_variant,p.Thr86Ala,ENST00000398339,NM_001243226.2;TCF4,intron_variant,,ENST00000565124,;TCF4,intron_variant,,ENST00000568169,;TCF4,intron_variant,,ENST00000628391,;TCF4,missense_variant,p.Thr86Ala,ENST00000627320,;TCF4,missense_variant,p.Thr85Ala,ENST00000569357,;TCF4,missense_variant,p.Thr13Ala,ENST00000565393,;TCF4,intron_variant,,ENST00000630224,;RPL21P126,upstream_gene_variant,,ENST00000470049,; C ENSG00000196628 ENST00000398339 Transcript missense_variant 386/2551 256/2322 86/773 T/A Acc/Gcc rs1202767371,COSM5977629 1 -1 TCF4 HGNC HGNC:11634 protein_coding YES CCDS58631.1 ENSP00000381382 E9PH57 UPI0000EE5B9B NM_001243226.2 deleterious_low_confidence(0.01) unknown(0) 2/21 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTG . . 55631328 ALPK2 . GRCh38 chr18 58611821 58611821 + Splice_Region DEL A A - rs754231631 7316-2594 BS_SGS26NXP A A c.-20-4del ENST00000361673 72 30 34 40 33 0 ALPK2,splice_region_variant,,ENST00000361673,NM_052947.3;,regulatory_region_variant,,ENSR00000103988,; - ENSG00000198796 ENST00000361673 Transcript splice_region_variant,intron_variant rs754231631 1 -1 ALPK2 HGNC HGNC:20565 protein_coding YES CCDS11966.2 ENSP00000354991 Q86TB3 UPI000022A768 NM_052947.3 1/12 LOW 1 deletion 1 PASS TGAA . . 0.2568 0.2051 0.2711 0.2904 0.2494 0.2179 0.2586 0.2742 0.2929 58611820 LMAN1 . GRCh38 chr18 59346053 59346053 + Splice_Site DEL T T - rs775612797 7316-2594 BS_SGS26NXP T T c.823-2del p.X275_splice ENST00000251047 64 53 7 42 42 0 LMAN1,splice_acceptor_variant,,ENST00000251047,NM_005570.3;LMAN1,splice_acceptor_variant,,ENST00000587940,; - ENSG00000074695 ENST00000251047 Transcript splice_acceptor_variant rs775612797,COSM4698179 1 -1 LMAN1 HGNC HGNC:6631 protein_coding YES CCDS11974.1 ENSP00000251047 P49257 A0A024R2A7 UPI000012A0DD NM_005570.3 7/12 0,1 HIGH 1 deletion 1 0,1 1 PASS GCTT . . 5.03e-05 0.0002078 6.031e-05 0.0001428 2.74e-05 0.0001886 6.878e-05 59346052 ZNF407 . GRCh38 chr18 74632539 74632539 + Missense_Mutation SNP G G A rs573257833 7316-2594 BS_SGS26NXP G G c.1520G>A p.Arg507His p.R507H ENST00000299687 1/8 61 37 22 38 36 0 ZNF407,missense_variant,p.Arg507His,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Arg507His,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.Arg507His,ENST00000582337,;ZNF407,missense_variant,p.Arg507His,ENST00000309902,NM_001146190.1;,regulatory_region_variant,,ENSR00000105002,; A ENSG00000215421 ENST00000299687 Transcript missense_variant 1520/7948 1520/6747 507/2248 R/H cGt/cAt rs573257833,COSM4073246,COSM3146460,COSM3146459 1 1 ZNF407 HGNC HGNC:19904 protein_coding YES CCDS45885.1 ENSP00000299687 Q9C0G0 UPI0000F58ED1 NM_017757.2 tolerated(0.5) benign(0) 1/8 Gene3D:3.30.160.60,hmmpanther:PTHR45148,mobidb-lite 0.0002 0.001 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS CGT . . 7.317e-05 5.956e-05 0.0001826 0.0004874 74632539 TLE2 . GRCh38 chr19 3005525 3005525 + Missense_Mutation SNP C C T novel 7316-2594 BS_SGS26NXP C C c.1811G>A p.Arg604Gln p.R604Q ENST00000590536 17/20 68 41 26 47 44 0 TLE2,missense_variant,p.Arg603Gln,ENST00000262953,NM_003260.4;TLE2,missense_variant,p.Arg617Gln,ENST00000591529,NM_001144761.1;TLE2,missense_variant,p.Arg617Gln,ENST00000426948,;TLE2,missense_variant,p.Arg604Gln,ENST00000590536,NM_001300846.1;TLE2,missense_variant,p.Arg481Gln,ENST00000455444,;TLE2,missense_variant,p.Arg481Gln,ENST00000443826,NM_001144762.1;TLE2,missense_variant,p.Arg252Gln,ENST00000589364,;TLE2,intron_variant,,ENST00000586422,;TLE2,downstream_gene_variant,,ENST00000586492,;TLE2,downstream_gene_variant,,ENST00000589205,;TLE2,downstream_gene_variant,,ENST00000587672,; T ENSG00000065717 ENST00000590536 Transcript missense_variant 1920/2344 1811/2235 604/744 R/Q cGg/cAg 1 -1 TLE2 HGNC HGNC:11838 protein_coding YES CCDS74255.1 ENSP00000466542 K7EMK7 UPI0000203012 NM_001300846.1 deleterious(0.04) benign(0.084) 17/20 PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF4,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978 MODERATE 1 SNV 1 PASS CCG . . 3005525 MUC16 . GRCh38 chr19 8934890 8934890 + Missense_Mutation SNP G G T novel 7316-2594 BS_SGS26NXP G G c.36065C>A p.Thr12022Lys p.T12022K ENST00000397910 5/84 71 37 29 38 38 0 MUC16,missense_variant,p.Thr12022Lys,ENST00000397910,NM_024690.2; T ENSG00000181143 ENST00000397910 Transcript missense_variant,splice_region_variant 36269/43816 36065/43524 12022/14507 T/K aCa/aAa 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0.051) 5/84 hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672,hmmpanther:PTHR14672 MODERATE 1 SNV 5 1 PASS TGT . . 8934890 LDLR . GRCh38 chr19 11110660 11110660 + Missense_Mutation SNP G G A rs746834464 7316-2594 BS_SGS26NXP G G c.949G>A p.Glu317Lys p.E317K ENST00000558518 7/18 69 37 28 41 40 0 LDLR,missense_variant,p.Glu402Lys,ENST00000252444,;LDLR,missense_variant,p.Glu317Lys,ENST00000558518,NM_000527.4;LDLR,missense_variant,p.Glu317Lys,ENST00000558013,NM_001195798.1;LDLR,missense_variant,p.Glu317Lys,ENST00000557933,;LDLR,missense_variant,p.Glu276Lys,ENST00000535915,NM_001195799.1;LDLR,missense_variant,p.Glu190Lys,ENST00000545707,NM_001195803.1;LDLR,missense_variant,p.Glu149Lys,ENST00000455727,NM_001195800.1;LDLR,intron_variant,,ENST00000560467,;MIR6886,upstream_gene_variant,,ENST00000619864,;LDLR,downstream_gene_variant,,ENST00000558528,;LDLR,upstream_gene_variant,,ENST00000559340,;LDLR,upstream_gene_variant,,ENST00000560173,; A ENSG00000130164 ENST00000558518 Transcript missense_variant 1136/3617 949/2583 317/860 E/K Gaa/Aaa rs746834464,CM100932,CM012624 1 1 LDLR HGNC HGNC:6547 protein_coding YES CCDS12254.1 ENSP00000454071 P01130 A0A024R7D5 UPI00000015DF NM_000527.4 deleterious(0) probably_damaging(0.999) 7/18 Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR43966,hmmpanther:PTHR43966:SF5,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184 pathogenic 20145306,21310417,11295843 MODERATE 1 SNV 1 1,1,1 1 PASS CGA . . 5.286e-05 4.485e-05 0.0002599 11110660 DOCK6 . GRCh38 chr19 11237533 11237533 + Missense_Mutation SNP G G A rs370068309 7316-2594 BS_SGS26NXP G G c.1996C>T p.Arg666Cys p.R666C ENST00000294618 18/48 47 29 17 35 34 0 DOCK6,missense_variant,p.Arg666Cys,ENST00000294618,NM_020812.3;DOCK6,missense_variant,p.Arg114Cys,ENST00000590680,;ANGPTL8,5_prime_UTR_variant,,ENST00000616433,;ANGPTL8,5_prime_UTR_variant,,ENST00000591200,;ANGPTL8,upstream_gene_variant,,ENST00000252453,NM_018687.6;DOCK6,upstream_gene_variant,,ENST00000585904,;ANGPTL8,upstream_gene_variant,,ENST00000587543,;DOCK6,upstream_gene_variant,,ENST00000587656,;DOCK6,non_coding_transcript_exon_variant,,ENST00000591750,; A ENSG00000130158 ENST00000294618 Transcript missense_variant 2008/6358 1996/6144 666/2047 R/C Cgc/Tgc rs370068309 1 -1 DOCK6 HGNC HGNC:19189 protein_coding YES CCDS45975.1 ENSP00000294618 Q96HP0 UPI000059D66F NM_020812.3 deleterious(0) probably_damaging(0.988) 18/48 Gene3D:2.60.40.150,Pfam_domain:PF14429,PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65,cd08696 0.000121 MODERATE 1 SNV 1 1 PASS CGC . . 2.443e-05 5.392e-05 11237533 MED26 . GRCh38 chr19 16576083 16576083 + Missense_Mutation SNP C C T rs772298744 7316-2594 BS_SGS26NXP C C c.1747G>A p.Asp583Asn p.D583N ENST00000263390 3/3 58 37 20 35 33 0 MED26,missense_variant,p.Asp583Asn,ENST00000263390,NM_004831.3;MED26,3_prime_UTR_variant,,ENST00000611692,;SLC35E1,upstream_gene_variant,,ENST00000436553,;AC008764.4,downstream_gene_variant,,ENST00000593459,;SLC35E1,upstream_gene_variant,,ENST00000595753,NM_024881.4;MED26,downstream_gene_variant,,ENST00000598492,;MED26,downstream_gene_variant,,ENST00000598608,;MED26,downstream_gene_variant,,ENST00000600060,;MED26,downstream_gene_variant,,ENST00000601478,;AC008764.8,downstream_gene_variant,,ENST00000623966,;AC008764.4,downstream_gene_variant,,ENST00000593962,;MED26,non_coding_transcript_exon_variant,,ENST00000597244,;AC008764.1,intron_variant,,ENST00000409035,;SLC35E1,upstream_gene_variant,,ENST00000409648,;SLC35E1,upstream_gene_variant,,ENST00000488894,;AC008764.4,downstream_gene_variant,,ENST00000593991,;AC008764.4,downstream_gene_variant,,ENST00000594509,;AC008764.4,downstream_gene_variant,,ENST00000595505,;AC008764.4,downstream_gene_variant,,ENST00000600705,;AC008764.4,downstream_gene_variant,,ENST00000601636,; T ENSG00000105085 ENST00000263390 Transcript missense_variant 2010/3174 1747/1803 583/600 D/N Gat/Aat rs772298744 1 -1 MED26 HGNC HGNC:2376 protein_coding YES CCDS12347.1 ENSP00000263390 O95402 UPI000013D3FC NM_004831.3 deleterious(0) probably_damaging(0.977) 3/3 Pfam_domain:PF15693,hmmpanther:PTHR15201 MODERATE 1 SNV 1 PASS TCG . . 1.22e-05 5.957e-05 8.974e-06 16576083 ANO8 . GRCh38 chr19 17324795 17324795 + Missense_Mutation SNP G G A rs754345088 7316-2594 BS_SGS26NXP G G c.3253C>T p.Arg1085Trp p.R1085W ENST00000159087 17/18 67 36 29 37 36 0 ANO8,missense_variant,p.Arg1085Trp,ENST00000159087,NM_020959.2;DDA1,downstream_gene_variant,,ENST00000359866,NM_024050.5;ANO8,downstream_gene_variant,,ENST00000630631,;ANO8,3_prime_UTR_variant,,ENST00000597643,;DDA1,downstream_gene_variant,,ENST00000593466,;DDA1,downstream_gene_variant,,ENST00000596582,;,regulatory_region_variant,,ENSR00000107879,; A ENSG00000074855 ENST00000159087 Transcript missense_variant 3412/4152 3253/3699 1085/1232 R/W Cgg/Tgg rs754345088 1 -1 ANO8 HGNC HGNC:29329 protein_coding YES CCDS32949.1 ENSP00000159087 Q9HCE9 UPI00001C200F NM_020959.2 deleterious_low_confidence(0) benign(0) 17/18 mobidb-lite MODERATE 1 SNV 1 PASS CGG . . 4.424e-06 9.877e-06 17324795 SLC27A1 . GRCh38 chr19 17486916 17486916 + Missense_Mutation SNP C C T rs1203640117 7316-2594 BS_SGS26NXP C C c.521C>T p.Ser174Leu p.S174L ENST00000252595 2/12 78 44 31 40 40 0 SLC27A1,missense_variant,p.Ser174Leu,ENST00000252595,NM_198580.2;SLC27A1,5_prime_UTR_variant,,ENST00000598424,;AC010618.3,downstream_gene_variant,,ENST00000596643,;AC010618.3,downstream_gene_variant,,ENST00000598141,;SLC27A1,missense_variant,p.Ser174Leu,ENST00000600277,;SLC27A1,missense_variant,p.Ser174Leu,ENST00000600297,;SLC27A1,intron_variant,,ENST00000599380,;SLC27A1,upstream_gene_variant,,ENST00000593701,; T ENSG00000130304 ENST00000252595 Transcript missense_variant 618/3594 521/1941 174/646 S/L tCg/tTg rs1203640117,COSM6781137,COSM6781136 1 1 SLC27A1 HGNC HGNC:10995 protein_coding YES CCDS32953.1 ENSP00000252595 Q6PCB7 UPI0000038E7F NM_198580.2 deleterious(0) probably_damaging(0.975) 2/12 Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR43107,hmmpanther:PTHR43107:SF7,Superfamily_domains:SSF56801 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TCG . . 4.58e-06 9.798e-06 17486916 ZNF43 . GRCh38 chr19 21809685 21809685 + Missense_Mutation SNP G G T novel 7316-2594 BS_SGS26NXP G G c.379C>A p.His127Asn p.H127N ENST00000357491 4/4 77 69 5 40 40 0 ZNF43,missense_variant,p.His112Asn,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.His127Asn,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.His112Asn,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.His112Asn,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.His118Asn,ENST00000354959,NM_003423.3;ZNF43,missense_variant,p.His53Asn,ENST00000599906,NM_001256654.1,NM_001256651.1;ZNF43,missense_variant,p.His53Asn,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,; T ENSG00000198521 ENST00000357491 Transcript missense_variant 513/5249 379/2457 127/818 H/N Cat/Aat 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(0.27) benign(0) 4/4 PIRSF_domain:PIRSF013212,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105 MODERATE 1 SNV 2 PASS TGG . . 21809685 ZNF91 . GRCh38 chr19 23362729 23362729 + Splice_Region DEL A A - rs750241849 7316-2594 BS_SGS26NXP A A c.254-4del ENST00000300619 79 41 26 48 42 1 ZNF91,splice_region_variant,,ENST00000300619,NM_003430.3;ZNF91,splice_region_variant,,ENST00000397082,NM_001300951.1;ZNF91,splice_region_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,; - ENSG00000167232 ENST00000300619 Transcript splice_region_variant,intron_variant rs750241849,TMP_ESP_19_23545531_23545531,COSM1735932,COSM1735931 1 -1 ZNF91 HGNC HGNC:13166 protein_coding YES CCDS42541.1 ENSP00000300619 Q05481 UPI00002038F9 NM_003430.3 3/3 0.04944 0.05881 0,0,1,1 LOW 1 deletion 1 0,0,1,1 PASS TGAA . . 0.008485 0.007136 0.01348 0.01275 0.008101 0.007541 0.008606 0.004231 0.005766 23362728 SBSN . GRCh38 chr19 35527707 35527707 + Missense_Mutation SNP A A G rs12983545 7316-2594 BS_SGS26NXP A A c.575T>C p.Val192Ala p.V192A ENST00000452271 1/4 56 44 7 22 21 0 SBSN,missense_variant,p.Val192Ala,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; G ENSG00000189001 ENST00000452271 Transcript missense_variant 604/1945 575/1773 192/590 V/A gTc/gCc rs12983545 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 tolerated(0.45) benign(0) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAC . . 5.547e-06 7.888e-05 35527707 ZNF567 . GRCh38 chr19 36719679 36719679 + Missense_Mutation SNP C C T rs370337701 7316-2594 BS_SGS26NXP C C c.955C>T p.Arg319Cys p.R319C ENST00000536254 6/6 68 41 26 39 39 0 ZNF567,missense_variant,p.Arg288Cys,ENST00000585696,;ZNF567,missense_variant,p.Arg319Cys,ENST00000536254,NM_001322917.1,NM_001322918.1,NM_001300979.1,NM_001322916.1,NM_001322913.1,NM_001322915.1,NM_001322919.1,NM_001322914.1,NM_001322920.1;ZNF567,missense_variant,p.Arg288Cys,ENST00000360729,NM_001322912.1,NM_152603.4,NM_001322911.1;ZNF567,missense_variant,p.Arg288Cys,ENST00000588311,;ZNF567,intron_variant,,ENST00000589264,;ZNF850,intron_variant,,ENST00000589390,;ZNF567,intron_variant,,ENST00000591308,; T ENSG00000189042 ENST00000536254 Transcript missense_variant 1177/2825 955/1944 319/647 R/C Cgc/Tgc rs370337701 1 1 ZNF567 HGNC HGNC:28696 protein_coding YES CCDS74349.1 ENSP00000441838 Q8N184 UPI000022A7F5 NM_001322917.1,NM_001322918.1,NM_001300979.1,NM_001322916.1,NM_001322913.1,NM_001322915.1,NM_001322919.1,NM_001322914.1,NM_001322920.1 tolerated(0.18) probably_damaging(0.94) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF25,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0001163 MODERATE 1 SNV 2 PASS CCG . . 4.065e-05 0.000116 6.276e-05 3.25e-05 36719679 RYR1 . GRCh38 chr19 38499814 38499814 + Missense_Mutation SNP C C T rs1241302558 7316-2594 BS_SGS26NXP C C c.7207C>T p.Arg2403Cys p.R2403C ENST00000359596 44/106 65 27 35 44 44 0 RYR1,missense_variant,p.Arg2403Cys,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Arg2403Cys,ENST00000359596,NM_000540.2;RYR1,missense_variant,p.Arg221Cys,ENST00000594335,; T ENSG00000196218 ENST00000359596 Transcript missense_variant 7207/15117 7207/15117 2403/5038 R/C Cgc/Tgc rs1241302558,COSM6524962,COSM1393405 1 1 RYR1 HGNC HGNC:10483 protein_coding YES CCDS33011.1 ENSP00000352608 P21817 UPI0000D7E62F NM_000540.2 deleterious(0.02) possibly_damaging(0.855) 44/106 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GCG . . 38499814 C19orf54 . GRCh38 chr19 40742530 40742530 + Missense_Mutation SNP G G A rs1357997277 7316-2594 BS_SGS26NXP G G c.959C>T p.Ala320Val p.A320V ENST00000378313 6/6 59 35 22 37 37 0 C19orf54,missense_variant,p.Ala320Val,ENST00000378313,NM_198476.3;C19orf54,3_prime_UTR_variant,,ENST00000470681,NM_001353805.1;C19orf54,intron_variant,,ENST00000596940,;C19orf54,intron_variant,,ENST00000598352,;C19orf54,intron_variant,,ENST00000598485,;ITPKC,downstream_gene_variant,,ENST00000263370,NM_025194.2;C19orf54,downstream_gene_variant,,ENST00000600139,;C19orf54,upstream_gene_variant,,ENST00000594163,;C19orf54,3_prime_UTR_variant,,ENST00000469741,NM_001353808.1;C19orf54,3_prime_UTR_variant,,ENST00000596809,;C19orf54,intron_variant,,ENST00000597507,;ITPKC,downstream_gene_variant,,ENST00000597003,; A ENSG00000188493 ENST00000378313 Transcript missense_variant 1079/2753 959/1056 320/351 A/V gCc/gTc rs1357997277 1 -1 C19orf54 HGNC HGNC:24758 protein_coding YES CCDS12564.2 ENSP00000367564 Q5BKX5 UPI00001B64AB NM_198476.3 tolerated(0.07) probably_damaging(0.91) 6/6 hmmpanther:PTHR28631 MODERATE SNV 2 PASS GGC . . 40742530 RELB . GRCh38 chr19 45034267 45034267 + Missense_Mutation SNP C C T rs1213218534 7316-2594 BS_SGS26NXP C C c.1231C>T p.Arg411Trp p.R411W ENST00000221452 10/12 74 49 24 26 26 0 RELB,missense_variant,p.Arg411Trp,ENST00000221452,NM_006509.3;RELB,missense_variant,p.Arg411Trp,ENST00000625761,;RELB,missense_variant,p.Arg408Trp,ENST00000505236,;RELB,intron_variant,,ENST00000589972,;CLASRP,upstream_gene_variant,,ENST00000221455,NM_007056.2;CLASRP,upstream_gene_variant,,ENST00000391953,NM_001278439.1;CLASRP,upstream_gene_variant,,ENST00000588936,;RELB,non_coding_transcript_exon_variant,,ENST00000509229,;CLASRP,upstream_gene_variant,,ENST00000391952,;CLASRP,upstream_gene_variant,,ENST00000588247,;CLASRP,upstream_gene_variant,,ENST00000591410,;CLASRP,upstream_gene_variant,,ENST00000592056,; T ENSG00000104856 ENST00000221452 Transcript missense_variant 1381/2294 1231/1740 411/579 R/W Cgg/Tgg rs1213218534 1 1 RELB HGNC HGNC:9956 protein_coding YES CCDS46110.1 ENSP00000221452 Q01201 UPI00000012B7 NM_006509.3 deleterious(0) probably_damaging(0.998) 10/12 Gene3D:2.60.40.10,Pfam_domain:PF16181,hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF18,Superfamily_domains:SSF81296 MODERATE 1 SNV 1 1 PASS GCG . . 4.062e-06 2.978e-05 45034267 SLC6A16 . GRCh38 chr19 49308879 49308879 + Missense_Mutation SNP T T G novel 7316-2594 BS_SGS26NXP T T c.1226A>C p.Glu409Ala p.E409A ENST00000335875 7/12 61 34 25 45 45 0 SLC6A16,missense_variant,p.Glu409Ala,ENST00000454748,;SLC6A16,missense_variant,p.Glu409Ala,ENST00000335875,NM_014037.2;SLC6A16,missense_variant,p.Glu25Ala,ENST00000594180,;SLC6A16,intron_variant,,ENST00000594917,;SLC6A16,intron_variant,,ENST00000597969,;SLC6A16,intron_variant,,ENST00000598828,;MIR4324,upstream_gene_variant,,ENST00000584846,;SLC6A16,intron_variant,,ENST00000598221,; G ENSG00000063127 ENST00000335875 Transcript missense_variant 1468/2938 1226/2211 409/736 E/A gAg/gCg 1 -1 SLC6A16 HGNC HGNC:13622 protein_coding YES CCDS42590.1 ENSP00000338627 Q9GZN6 UPI00001305CE NM_014037.2 tolerated(0.17) possibly_damaging(0.792) 7/12 Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF113,cd11502 MODERATE 1 SNV 5 PASS CTC . . 49308879 TEAD2 . GRCh38 chr19 49347216 49347216 + Frame_Shift_Del DEL G G - rs763321097 7316-2594 BS_SGS26NXP G G c.895del p.His299MetfsTer12 p.H299Mfs*12 ENST00000598810 10/13 77 41 30 45 43 0 TEAD2,frameshift_variant,p.His298MetfsTer12,ENST00000377214,;TEAD2,frameshift_variant,p.His299MetfsTer12,ENST00000598810,NM_001256661.1;TEAD2,frameshift_variant,p.His298MetfsTer12,ENST00000601519,NM_001256659.1,NM_001256658.1;TEAD2,frameshift_variant,p.His295MetfsTer12,ENST00000311227,NM_003598.1;TEAD2,frameshift_variant,p.His299MetfsTer12,ENST00000593945,NM_001256660.1;TEAD2,frameshift_variant,p.His167MetfsTer12,ENST00000539846,NM_001256662.1;TEAD2,downstream_gene_variant,,ENST00000596757,;TEAD2,downstream_gene_variant,,ENST00000598397,;CD37,downstream_gene_variant,,ENST00000600121,;TEAD2,downstream_gene_variant,,ENST00000598823,; - ENSG00000074219 ENST00000598810 Transcript frameshift_variant 1001/2191 895/1356 299/451 H/X Cat/at rs763321097,COSM253110 1 -1 TEAD2 HGNC HGNC:11715 protein_coding YES CCDS59406.1 ENSP00000472109 Q15562 UPI000013D895 NM_001256661.1 10/13 PIRSF_domain:PIRSF002603,hmmpanther:PTHR11834,hmmpanther:PTHR11834:SF5 0,1 HIGH 1 deletion 1 0,1 PASS ATGG . . 1.65e-05 2.998e-05 2.751e-05 49347215 SHANK1 . GRCh38 chr19 50715663 50715663 + Missense_Mutation SNP G G A novel 7316-2594 BS_SGS26NXP G G c.527C>T p.Thr176Met p.T176M ENST00000293441 3/23 55 42 9 34 34 0 SHANK1,missense_variant,p.Thr176Met,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Thr176Met,ENST00000391814,;SHANK1,missense_variant,p.Thr176Met,ENST00000359082,;SHANK1,upstream_gene_variant,,ENST00000483128,; A ENSG00000161681 ENST00000293441 Transcript missense_variant 546/6643 527/6486 176/2161 T/M aCg/aTg 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 deleterious(0) probably_damaging(0.993) 3/23 hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3,Gene3D:1.25.40.20,Superfamily_domains:SSF48403 MODERATE 1 SNV 1 1 PASS CGT . . 50715663 ZNF808 . GRCh38 chr19 52555576 52555576 + Missense_Mutation SNP G G A rs767171404 7316-2594 BS_SGS26NXP G G c.2660G>A p.Arg887Gln p.R887Q ENST00000359798 5/5 79 49 27 53 50 0 ZNF808,missense_variant,p.Arg887Gln,ENST00000359798,NM_001321424.1,NM_001039886.3,NM_001321425.1;ZNF701,intron_variant,,ENST00000611267,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.Arg818Gln,ENST00000487863,; A ENSG00000198482 ENST00000359798 Transcript missense_variant 2840/3600 2660/2712 887/903 R/Q cGg/cAg rs767171404 1 1 ZNF808 HGNC HGNC:33230 protein_coding YES CCDS46167.1 ENSP00000352846 Q8N4W9 UPI000041AA80 NM_001321424.1,NM_001039886.3,NM_001321425.1 tolerated(0.33) benign(0.001) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR43964,hmmpanther:PTHR43964:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS CGG . . 6.139e-05 0.0001311 0.0001171 52555576 KMT5C . GRCh38 chr19 55347393 55347393 + Missense_Mutation SNP C C T rs770111112 7316-2594 BS_SGS26NXP C C c.1333C>T p.Arg445Trp p.R445W ENST00000255613 9/9 58 34 23 48 47 0 KMT5C,missense_variant,p.Arg445Trp,ENST00000255613,NM_032701.3;KMT5C,missense_variant,p.Arg330Trp,ENST00000630497,;COX6B2,downstream_gene_variant,,ENST00000326529,NM_144613.4;COX6B2,downstream_gene_variant,,ENST00000588572,;COX6B2,downstream_gene_variant,,ENST00000590900,;COX6B2,downstream_gene_variant,,ENST00000593184,;KMT5C,downstream_gene_variant,,ENST00000402499,;KMT5C,downstream_gene_variant,,ENST00000460956,;COX6B2,downstream_gene_variant,,ENST00000586191,;KMT5C,downstream_gene_variant,,ENST00000587442,;COX6B2,downstream_gene_variant,,ENST00000588586,;COX6B2,downstream_gene_variant,,ENST00000589879,;KMT5C,3_prime_UTR_variant,,ENST00000445196,;KMT5C,downstream_gene_variant,,ENST00000464185,;KMT5C,downstream_gene_variant,,ENST00000468951,;KMT5C,downstream_gene_variant,,ENST00000474492,;KMT5C,downstream_gene_variant,,ENST00000498738,;KMT5C,downstream_gene_variant,,ENST00000589338,;AC020922.1,downstream_gene_variant,,ENST00000591954,;KMT5C,downstream_gene_variant,,ENST00000592631,; T ENSG00000133247 ENST00000255613 Transcript missense_variant 1581/2308 1333/1389 445/462 R/W Cgg/Tgg rs770111112,COSM6300668 1 1 KMT5C HGNC HGNC:28405 protein_coding YES CCDS12922.1 ENSP00000255613 Q86Y97 UPI000000DABC NM_032701.3 deleterious_low_confidence(0) benign(0.106) 9/9 hmmpanther:PTHR12977:SF11,hmmpanther:PTHR12977 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 4.142e-05 8.925e-05 0.0002577 2.261e-05 3.768e-05 55347393 ZNF446 . GRCh38 chr19 58480518 58480518 + Missense_Mutation SNP C C T rs752910772 7316-2594 BS_SGS26NXP C C c.1145C>T p.Pro382Leu p.P382L ENST00000594369 7/7 71 51 14 46 45 0 ZNF446,missense_variant,p.Pro331Leu,ENST00000596341,NM_001304453.1;ZNF446,missense_variant,p.Pro382Leu,ENST00000594369,NM_017908.3;ZNF446,missense_variant,p.Pro354Leu,ENST00000622313,;ZNF446,missense_variant,p.Pro382Leu,ENST00000610298,;ZNF446,3_prime_UTR_variant,,ENST00000335841,;ZNF446,downstream_gene_variant,,ENST00000600013,;RNU6-1337P,downstream_gene_variant,,ENST00000516525,;AC012313.7,upstream_gene_variant,,ENST00000598051,;SLC27A5,3_prime_UTR_variant,,ENST00000595851,;ZNF446,non_coding_transcript_exon_variant,,ENST00000391694,;ZNF446,downstream_gene_variant,,ENST00000594468,; T ENSG00000083838 ENST00000594369 Transcript missense_variant 1526/2238 1145/1353 382/450 P/L cCg/cTg rs752910772,COSM4459895 1 1 ZNF446 HGNC HGNC:21036 protein_coding YES CCDS12982.1 ENSP00000472802 Q9NWS9 UPI0000071779 NM_017908.3 tolerated(0.53) benign(0) 7/7 mobidb-lite,Gene3D:3.30.40.10 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 2.459e-05 0.0001164 9.09e-06 9.751e-05 58480518 ASXL1 . GRCh38 chr20 32434639 32434639 + Frame_Shift_Del DEL G G - rs781077343 7316-2594 BS_SGS26NXP G G c.1934del p.Gly645ValfsTer58 p.G645Vfs*58 ENST00000375687 13/13 60 40 19 28 28 0 ASXL1,frameshift_variant,p.Gly645ValfsTer58,ENST00000375687,NM_015338.5;ASXL1,frameshift_variant,p.Gly645ValfsTer58,ENST00000613218,;ASXL1,frameshift_variant,p.Gly584ValfsTer58,ENST00000646985,;ASXL1,frameshift_variant,p.Gly640ValfsTer58,ENST00000306058,;ASXL1,frameshift_variant,p.Gly645ValfsTer58,ENST00000620121,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,non_coding_transcript_exon_variant,,ENST00000647223,;ASXL1,downstream_gene_variant,,ENST00000470145,;ASXL1,downstream_gene_variant,,ENST00000555564,;ASXL1,downstream_gene_variant,,ENST00000619344,;ASXL1,downstream_gene_variant,,ENST00000644168,; - ENSG00000171456 ENST00000375687 Transcript frameshift_variant 2373/7053 1927/4626 643/1541 G/X Ggg/gg rs781077343,TMP_ESP_20_31022442_31022442,COSM4385082,COSM1180918 1 1 ASXL1 HGNC HGNC:18318 protein_coding YES CCDS13201.1 ENSP00000364839 Q8IXJ9 UPI000018691A NM_015338.5 13/13 hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19,mobidb-lite,Low_complexity_(Seg):seg 0.01488 0.02271 0,0,1,1 HIGH 1 deletion 5 7 0,0,1,1 1 PASS GAGG . . 0.0002812 0.0004227 0.0001964 0.0001121 0.0003977 0.0003227 0.0003265 0.000206 0.0001422 32434638 GDF5 . GRCh38 chr20 35434403 35434403 + Missense_Mutation SNP C C T novel 7316-2594 BS_SGS26NXP C C c.1012G>A p.Glu338Lys p.E338K ENST00000374372 4/4 59 32 23 39 37 0 GDF5,missense_variant,p.Glu338Lys,ENST00000374372,NM_001319138.1;GDF5,missense_variant,p.Glu338Lys,ENST00000374369,NM_000557.4;GDF5OS,missense_variant,p.Ser82Leu,ENST00000374375,NM_001355428.1;,regulatory_region_variant,,ENSR00000136559,; T ENSG00000125965 ENST00000374372 Transcript missense_variant 1516/2572 1012/1506 338/501 E/K Gag/Aag 1 -1 GDF5 HGNC HGNC:4220 protein_coding YES CCDS13254.1 ENSP00000363492 P43026 F1T0J1 UPI0000EE48A7 NM_001319138.1 deleterious(0.05) possibly_damaging(0.692) 4/4 hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF44 MODERATE 1 SNV 1 1 PASS TCG . . 35434403 RBL1 . GRCh38 chr20 37068189 37068189 + Splice_Region DEL A A - rs774515988 7316-2594 BS_SGS26NXP A A c.291-3del ENST00000373664 83 41 32 53 45 4 RBL1,splice_region_variant,,ENST00000344359,NM_183404.3;RBL1,splice_region_variant,,ENST00000373664,NM_001323281.1,NM_001323282.1,NM_002895.4;RBL1,upstream_gene_variant,,ENST00000525052,;RBL1,splice_region_variant,,ENST00000527999,; - ENSG00000080839 ENST00000373664 Transcript splice_region_variant,intron_variant rs774515988,COSM1723269 1 -1 RBL1 HGNC HGNC:9893 protein_coding YES CCDS13289.1 ENSP00000362768 P28749 UPI000013D34E NM_001323281.1,NM_001323282.1,NM_002895.4 2/21 0,1 LOW 1 deletion 1 0,1 PASS CTAA . . 0.2898 0.242 0.3201 0.3525 0.2749 0.2479 0.2777 0.3072 0.3618 37068188 KCNG1 . GRCh38 chr20 51009941 51009941 + Missense_Mutation SNP G G A rs1001316061 7316-2594 BS_SGS26NXP G G c.398C>T p.Ala133Val p.A133V ENST00000371571 2/3 71 37 33 40 40 0 KCNG1,missense_variant,p.Ala133Val,ENST00000371571,NM_002237.3;KCNG1,missense_variant,p.Ala133Val,ENST00000439216,;KCNG1,missense_variant,p.Ala133Val,ENST00000424171,;KCNG1,downstream_gene_variant,,ENST00000433903,;KCNG1,downstream_gene_variant,,ENST00000447736,;AL050404.1,non_coding_transcript_exon_variant,,ENST00000424566,;KCNG1,upstream_gene_variant,,ENST00000506387,; A ENSG00000026559 ENST00000371571 Transcript missense_variant 684/2211 398/1542 133/513 A/V gCg/gTg rs1001316061,COSM4694288,COSM4694287 1 -1 KCNG1 HGNC HGNC:6248 protein_coding YES CCDS13436.1 ENSP00000360626 Q9UIX4 UPI000012DC99 NM_002237.3 tolerated(0.08) benign(0.325) 2/3 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF88,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR00169 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGC . . 51009941 ADRM1 . GRCh38 chr20 62308135 62308135 + Missense_Mutation SNP C C T rs45576934 7316-2594 BS_SGS26NXP C C c.971C>T p.Ala324Val p.A324V ENST00000491935 9/11 79 41 32 48 46 0 ADRM1,missense_variant,p.Ala324Val,ENST00000491935,;ADRM1,missense_variant,p.Ala324Val,ENST00000253003,NM_007002.3,NM_175573.2;ADRM1,missense_variant,p.Ala285Val,ENST00000620230,NM_001281438.1,NM_001281437.1;LAMA5,downstream_gene_variant,,ENST00000252999,NM_005560.4;ADRM1,downstream_gene_variant,,ENST00000462554,;AL354836.1,upstream_gene_variant,,ENST00000414042,;LAMA5,non_coding_transcript_exon_variant,,ENST00000492698,;ADRM1,downstream_gene_variant,,ENST00000465805,;LAMA5,downstream_gene_variant,,ENST00000370691,;LAMA5,downstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000491036,;LAMA5,downstream_gene_variant,,ENST00000495695,; T ENSG00000130706 ENST00000491935 Transcript missense_variant 1176/1530 971/1224 324/407 A/V gCg/gTg rs45576934,COSM5484390 1 1 ADRM1 HGNC HGNC:15759 protein_coding YES CCDS13496.1 ENSP00000478877 Q16186 UPI0000125605 tolerated(0.16) possibly_damaging(0.789) 9/11 PDB-ENSP_mappings:2kqz.A,PDB-ENSP_mappings:2kr0.A,PDB-ENSP_mappings:2l5v.A,PDB-ENSP_mappings:2mkz.A,PDB-ENSP_mappings:4uel.C,PDB-ENSP_mappings:4uem.B,PDB-ENSP_mappings:4wlq.B,PDB-ENSP_mappings:4wlr.B,hmmpanther:PTHR12225,Pfam_domain:PF16550 0.0058 0.0115 0.0159 0.0051 0.002274 0.01315 0,1 MODERATE SNV 5 0,1 PASS GCG . . 0.008208 0.001457 0.005909 0.0004089 0.002986 0.01302 0.008157 0.007085 62308135 LINC01425 . GRCh38 chr21 21786397 21786397 + Splice_Region SNP T T A novel 7316-2594 BS_SGS26NXP T T n.523+6T>A ENST00000430060 89 56 30 42 40 0 LINC01425,splice_region_variant,,ENST00000425979,;LINC01425,splice_region_variant,,ENST00000430060,; A ENSG00000233997 ENST00000430060 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 LINC01425 HGNC HGNC:50733 lincRNA YES 4/4 LOW 1 SNV 1 PASS GTC . . 21786397 AF064858.3 . GRCh38 chr21 39006790 39006791 + Splice_Region INS - - A novel 7316-2594 BS_SGS26NXP - - n.373-7dup ENST00000419664 89 67 11 45 41 0 AF064858.3,splice_region_variant,,ENST00000419664,;AF064858.1,upstream_gene_variant,,ENST00000417335,;,regulatory_region_variant,,ENSR00000142424,; A ENSG00000237721 ENST00000419664 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AF064858.3 Clone_based_ensembl_gene lincRNA YES 2/2 LOW 1 insertion 5 PASS TGA . . 39006790 CABIN1 . GRCh38 chr22 24061944 24061944 + Splice_Region SNP C C T novel 7316-2594 BS_SGS26NXP C C c.1618-3C>T ENST00000398319 67 40 25 45 44 0 CABIN1,splice_region_variant,,ENST00000263119,NM_012295.3;CABIN1,splice_region_variant,,ENST00000398319,NM_001199281.1;CABIN1,splice_region_variant,,ENST00000405822,;CABIN1,splice_region_variant,,ENST00000617531,NM_001201429.1; T ENSG00000099991 ENST00000398319 Transcript splice_region_variant,intron_variant 1 1 CABIN1 HGNC HGNC:24187 protein_coding YES CCDS13823.1 ENSP00000381364 Q9Y6J0 A0A024R1E5 UPI0000126D6C NM_001199281.1 12/36 LOW 1 SNV 1 PASS GCA . . 24061944 HMGXB4 . GRCh38 chr22 35265551 35265551 + Frame_Shift_Del DEL A A - rs774824276 7316-2594 BS_SGS26NXP A A c.1172del p.Lys391ArgfsTer33 p.K391Rfs*33 ENST00000216106 5/11 61 23 28 34 30 0 HMGXB4,frameshift_variant,p.Lys391ArgfsTer33,ENST00000216106,NM_001003681.2;HMGXB4,frameshift_variant,p.Lys282ArgfsTer?,ENST00000455359,;HMGXB4,frameshift_variant,p.Lys282ArgfsTer?,ENST00000420166,;HMGXB4,3_prime_UTR_variant,,ENST00000418170,;HMGXB4,downstream_gene_variant,,ENST00000464480,;HMGXB4,downstream_gene_variant,,ENST00000498325,; - ENSG00000100281 ENST00000216106 Transcript frameshift_variant 1291/4047 1163/1806 388/601 E/X gAa/ga rs774824276,COSM1415988 1 1 HMGXB4 HGNC HGNC:5003 protein_coding YES CCDS33641.1 ENSP00000216106 Q9UGU5 UPI00003765B4 NM_001003681.2 5/11 hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF194,mobidb-lite,Low_complexity_(Seg):seg 0,1 HIGH 1 deletion 5 9 0,1 PASS TGAA . . 0.002769 0.002535 0.00401 0.005625 0.001429 0.001354 0.002751 0.004798 0.002732 35265550 TTLL12 . GRCh38 chr22 43171856 43171856 + Missense_Mutation SNP G G A rs747099971 7316-2594 BS_SGS26NXP G G c.1538C>T p.Thr513Met p.T513M ENST00000216129 11/14 66 36 28 37 37 0 TTLL12,missense_variant,p.Thr513Met,ENST00000216129,NM_015140.3;TTLL12,upstream_gene_variant,,ENST00000494035,;TTLL12,downstream_gene_variant,,ENST00000484118,;TTLL12,upstream_gene_variant,,ENST00000484711,; A ENSG00000100304 ENST00000216129 Transcript missense_variant 1602/3385 1538/1935 513/644 T/M aCg/aTg rs747099971,COSM6452594 1 -1 TTLL12 HGNC HGNC:28974 protein_coding YES CCDS14047.1 ENSP00000216129 Q14166 A0A024R4U3 UPI000013938D NM_015140.3 deleterious(0) probably_damaging(1) 11/14 Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF13 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 8.125e-05 0.000536 1.792e-05 43171856 CELSR1 . GRCh38 chr22 46436219 46436219 + Missense_Mutation SNP C C T rs530552874 7316-2594 BS_SGS26NXP C C c.4477G>A p.Ala1493Thr p.A1493T ENST00000262738 4/35 62 36 24 36 36 0 CELSR1,missense_variant,p.Ala1493Thr,ENST00000262738,NM_014246.1; T ENSG00000075275 ENST00000262738 Transcript missense_variant 4477/11389 4477/9045 1493/3014 A/T Gcc/Acc rs530552874 1 -1 CELSR1 HGNC HGNC:1850 protein_coding YES CCDS14076.1 ENSP00000262738 Q9NYQ6 UPI0000040648 NM_014246.1 deleterious(0) probably_damaging(0.992) 4/35 Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF36,SMART_domains:SM00282,Superfamily_domains:SSF49899,cd00110 MODERATE 1 SNV 1 PASS GCG . . 2.844e-05 3.583e-05 9.746e-05 46436219 PPP6R2 . GRCh38 chr22 50432326 50432326 + Missense_Mutation SNP C C T rs145305363 7316-2594 BS_SGS26NXP C C c.1397C>T p.Thr466Met p.T466M ENST00000612753 12/24 76 42 32 42 42 0 PPP6R2,missense_variant,p.Thr466Met,ENST00000612753,NM_001242898.1,NM_001351641.1,NM_001351642.1;PPP6R2,missense_variant,p.Thr466Met,ENST00000359139,NM_001242900.1,NM_001351644.1,NM_001351646.1;PPP6R2,missense_variant,p.Thr466Met,ENST00000216061,;PPP6R2,missense_variant,p.Thr467Met,ENST00000395741,NM_001242899.1;PPP6R2,missense_variant,p.Thr466Met,ENST00000395744,NM_014678.4;PPP6R2,missense_variant,p.Thr192Met,ENST00000401672,;PPP6R2,missense_variant,p.Thr95Met,ENST00000427222,; T ENSG00000100239 ENST00000612753 Transcript missense_variant 1778/4104 1397/2880 466/959 T/M aCg/aTg rs145305363 1 1 PPP6R2 HGNC HGNC:19253 protein_coding YES CCDS74881.1 ENSP00000478417 O75170 UPI0000207A29 NM_001242898.1,NM_001351641.1,NM_001351642.1 tolerated(0.09) benign(0.176) 12/24 Gene3D:1.25.10.10,Pfam_domain:PF04499,hmmpanther:PTHR12634,hmmpanther:PTHR12634:SF15 0.0012 0.0045 0.001928 MODERATE 1 SNV 2 PASS ACG . . 0.0001477 0.002219 9.752e-05 3.504e-05 0.0002611 4.381e-05 50432326 TBL1X . GRCh38 chrX 9711756 9711756 + Missense_Mutation SNP G A A rs768748680 7316-2594 BS_SGS26NXP G G c.1585G>A p.Val529Ile p.V529I ENST00000646640 16/18 30 6 22 25 25 0 TBL1X,missense_variant,p.Val529Ile,ENST00000646640,;TBL1X,missense_variant,p.Val529Ile,ENST00000217964,;TBL1X,missense_variant,p.Val529Ile,ENST00000645353,NM_005647.3;TBL1X,missense_variant,p.Val529Ile,ENST00000407597,NM_001139466.1;TBL1X,missense_variant,p.Val478Ile,ENST00000424279,NM_001139467.1;TBL1X,missense_variant,p.Val529Ile,ENST00000645686,;TBL1X,missense_variant,p.Val478Ile,ENST00000380961,NM_001139468.1;TBL1X,missense_variant,p.Val478Ile,ENST00000647060,; A ENSG00000101849 ENST00000646640 Transcript missense_variant 3435/7061 1585/1734 529/577 V/I Gtc/Atc rs768748680,COSM5483148,COSM5483147 1 1 TBL1X HGNC HGNC:11585 protein_coding YES CCDS14133.1 ENSP00000495556 A0A024RBV9 UPI0000161FAF tolerated(0.13) benign(0.146) 16/18 cd00200,Gene3D:2.40.10.120,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22846:SF50,hmmpanther:PTHR22846,PROSITE_patterns:PS00678,Prints_domain:PR00320 0,1,1 MODERATE 1 SNV 0,1,1 PASS CGT . . 3.639e-05 2.682e-05 0.0002464 9711756 MAP3K15 . GRCh38 chrX 19395155 19395155 + Missense_Mutation SNP C T T rs781456790 7316-2594 BS_SGS26NXP C C c.2120G>A p.Arg707His p.R707H ENST00000338883 16/29 31 2 29 24 24 0 MAP3K15,missense_variant,p.Arg707His,ENST00000338883,NM_001001671.3;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;MAP3K15,3_prime_UTR_variant,,ENST00000359173,; T ENSG00000180815 ENST00000338883 Transcript missense_variant 2120/4012 2120/3942 707/1313 R/H cGc/cAc rs781456790 1 -1 MAP3K15 HGNC HGNC:31689 protein_coding YES CCDS35212.2 ENSP00000345629 Q6ZN16 UPI0000E444D0 NM_001001671.3 deleterious(0) probably_damaging(0.956) 16/29 PROSITE_profiles:PS50011,cd06624,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112 MODERATE 1 SNV 5 PASS GCG . . 2.241e-05 7.772e-05 1.251e-05 0.0001045 19395155 ACOT9 . GRCh38 chrX 23713180 23713180 + Frame_Shift_Del DEL A A - novel 7316-2594 BS_SGS26NXP A A c.617del p.Leu206TrpfsTer6 p.L206Wfs*6 ENST00000379303 9/16 37 8 25 21 21 0 ACOT9,frameshift_variant,p.Leu206TrpfsTer6,ENST00000379303,NM_001037171.1;ACOT9,frameshift_variant,p.Leu137TrpfsTer6,ENST00000379295,;ACOT9,frameshift_variant,p.Leu197TrpfsTer6,ENST00000336430,NM_001033583.2;ACOT9,frameshift_variant,p.Leu123TrpfsTer6,ENST00000473710,;ACOT9,intron_variant,,ENST00000492081,;ACOT9,3_prime_UTR_variant,,ENST00000494361,;ACOT9,non_coding_transcript_exon_variant,,ENST00000449612,; - ENSG00000123130 ENST00000379303 Transcript frameshift_variant 746/3117 617/1347 206/448 L/X tTg/tg 1 -1 ACOT9 HGNC HGNC:17152 protein_coding YES CCDS43924.1 ENSP00000368605 Q9Y305 UPI00003D7D31 NM_001037171.1 9/16 PROSITE_profiles:PS51770,cd03442,hmmpanther:PTHR12655:SF0,hmmpanther:PTHR12655,Gene3D:3.10.129.10,Superfamily_domains:SSF54637 HIGH 1 deletion 1 PASS CCAA . . 23713179 TAB3 . GRCh38 chrX 30859685 30859685 + Splice_Region DEL A A - rs1463455832 7316-2594 BS_SGS26NXP A A c.-90-7del ENST00000378933 31 7 18 13 13 0 TAB3,splice_region_variant,,ENST00000288422,;TAB3,splice_region_variant,,ENST00000378932,;TAB3,splice_region_variant,,ENST00000378933,NM_152787.4;TAB3,5_prime_UTR_variant,,ENST00000378930,;TAB3-AS2,downstream_gene_variant,,ENST00000445240,;TAB3,splice_region_variant,,ENST00000467136,; - ENSG00000157625 ENST00000378933 Transcript splice_region_variant,intron_variant rs1463455832 1 -1 TAB3 HGNC HGNC:30681 protein_coding YES CCDS14226.1 ENSP00000368215 Q8N5C8 UPI0000071648 NM_152787.4 5/11 LOW 1 deletion 1 PASS TTAA . . 30859684 ITIH6 . GRCh38 chrX 54774204 54774205 + Splice_Region INS - - A rs773150508 7316-2594 BS_SGS26NXP - - c.787-8dup ENST00000218436 40 13 12 20 14 0 ITIH6,splice_region_variant,,ENST00000218436,NM_198510.2;,regulatory_region_variant,,ENSR00000246746,; A ENSG00000102313 ENST00000218436 Transcript splice_region_variant,intron_variant rs773150508 1 -1 ITIH6 HGNC HGNC:28907 protein_coding YES CCDS14361.1 ENSP00000218436 Q6UXX5 UPI00000540C8 NM_198510.2 5/12 LOW 1 insertion 1 PASS CCA . . 0.03236 0.08008 0.02955 0.02006 0.02278 0.04809 0.022 0.01815 0.02617 54774204 ATRX . GRCh38 chrX 77557561 77557561 + Missense_Mutation SNP G G A 7316-2594 BS_SGS26NXP G G c.6589C>T p.Arg2197Cys p.R2197C ENST00000373344 30/35 38 10 25 16 16 0 ATRX,missense_variant,p.Arg2197Cys,ENST00000373344,NM_000489.4;ATRX,missense_variant,p.Arg2159Cys,ENST00000395603,NM_138270.3;ATRX,downstream_gene_variant,,ENST00000637175,;ATRX,3_prime_UTR_variant,,ENST00000480283,;ATRX,non_coding_transcript_exon_variant,,ENST00000623706,; A ENSG00000085224 ENST00000373344 Transcript missense_variant 6857/11220 6589/7479 2197/2492 R/C Cgt/Tgt COSM458070,COSM458069 1 -1 ATRX HGNC HGNC:886 protein_coding YES CCDS14434.1 ENSP00000362441 P46100 A4LAA3 UPI00001B644E NM_000489.4 deleterious(0) probably_damaging(0.998) 30/35 PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF843,hmmpanther:PTHR10799,Superfamily_domains:SSF52540 1,1 MODERATE 1 SNV 1 1,1 1 PASS CGC . . 77557561 PCDH11X . GRCh38 chrX 91879202 91879202 + Missense_Mutation SNP C T T 7316-2594 BS_SGS26NXP C C c.2962C>T p.Pro988Ser p.P988S ENST00000373094 2/7 41 8 30 19 19 0 PCDH11X,missense_variant,p.Pro988Ser,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Pro988Ser,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Pro988Ser,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Pro988Ser,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Pro988Ser,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Pro988Ser,ENST00000504220,NM_001168361.1;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,; T ENSG00000102290 ENST00000373094 Transcript missense_variant 3807/9179 2962/4044 988/1347 P/S Ccc/Tcc COSM3564065,COSM3564064,COSM3564063,COSM3564062,COSM3564061 1 1 PCDH11X HGNC HGNC:8656 protein_coding YES CCDS14461.1 ENSP00000362186 Q9BZA7 UPI0000070BD8 NM_032968.4 tolerated(0.25) probably_damaging(0.988) 2/7 Pfam_domain:PF08374,hmmpanther:PTHR43912,hmmpanther:PTHR43912:SF1,Low_complexity_(Seg):seg 1,1,1,1,1 MODERATE 1 SNV 1 1,1,1,1,1 PASS TCC . . 91879202 RPL10 . GRCh38 chrX 154400837 154400837 + Missense_Mutation SNP C C T rs979369776 7316-2594 BS_SGS26NXP C C c.628C>T p.Arg210Trp p.R210W ENST00000424325 7/7 50 41 8 20 20 0 RPL10,missense_variant,p.Arg210Trp,ENST00000424325,NM_001303625.1,NM_006013.4;RPL10,missense_variant,p.Arg210Trp,ENST00000344746,NM_001303626.1,NM_001303624.1;RPL10,missense_variant,p.Arg174Trp,ENST00000618723,NM_001256580.2;RPL10,missense_variant,p.Arg210Trp,ENST00000369817,;RPL10,missense_variant,p.Arg159Trp,ENST00000406022,;RPL10,synonymous_variant,p.Gly155=,ENST00000458500,NM_001256577.2;RPL10,intron_variant,,ENST00000427682,;RPL10,intron_variant,,ENST00000428169,;RPL10,intron_variant,,ENST00000449494,;RPL10,intron_variant,,ENST00000451365,;DNASE1L1,downstream_gene_variant,,ENST00000014935,;DNASE1L1,downstream_gene_variant,,ENST00000309585,NM_001009933.2;DNASE1L1,downstream_gene_variant,,ENST00000369807,NM_001303620.1;DNASE1L1,downstream_gene_variant,,ENST00000369808,NM_006730.3;DNASE1L1,downstream_gene_variant,,ENST00000369809,NM_001009932.2;DNASE1L1,downstream_gene_variant,,ENST00000393638,NM_001009934.2;DNASE1L1,downstream_gene_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000424626,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000436473,;DNASE1L1,downstream_gene_variant,,ENST00000447892,;DNASE1L1,downstream_gene_variant,,ENST00000451865,;SNORA70,downstream_gene_variant,,ENST00000384436,;AC245140.2,upstream_gene_variant,,ENST00000624054,;RPL10,downstream_gene_variant,,ENST00000479366,;RPL10,non_coding_transcript_exon_variant,,ENST00000482732,;RPL10,non_coding_transcript_exon_variant,,ENST00000492572,;RPL10,non_coding_transcript_exon_variant,,ENST00000489200,;RPL10,non_coding_transcript_exon_variant,,ENST00000491035,;RPL10,non_coding_transcript_exon_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000485196,;DNASE1L1,downstream_gene_variant,,ENST00000497242,; T ENSG00000147403 ENST00000424325 Transcript missense_variant 816/2318 628/645 210/214 R/W Cgg/Tgg rs979369776,COSM5793483 1 1 RPL10 HGNC HGNC:10298 protein_coding YES CCDS14746.1 ENSP00000413436 P27635 X5D2T3 UPI0000144CE2 NM_001303625.1,NM_006013.4 tolerated(0.31) benign(0) 7/7 hmmpanther:PTHR11726,hmmpanther:PTHR11726:SF11 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 154400837 PRAMEF18 . GRCh38 chr1 13225089 13225089 + Missense_Mutation SNP T T C novel 7316-942 BS_G3PJTB8B T T c.632A>G p.Glu211Gly p.E211G ENST00000624297 2/3 197 164 28 90 89 0 PRAMEF18,missense_variant,p.Glu211Gly,ENST00000624297,NM_001099850.2; C ENSG00000279804 ENST00000624297 Transcript missense_variant 632/2067 632/1440 211/479 E/G gAa/gGa 1 -1 PRAMEF18 HGNC HGNC:30693 protein_coding YES ENSP00000485473 Q5VWM3 A0A096LP99 UPI0004423C16 NM_001099850.2 deleterious(0.02) benign(0.109) 2/3 hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF79,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047 MODERATE 1 SNV 1 PASS TTC . . 13225089 CFAP57 . GRCh38 chr1 43234375 43234375 + Nonsense_Mutation SNP C C T rs1383479936 7316-942 BS_G3PJTB8B C C c.3322C>T p.Arg1108Ter p.R1108* ENST00000610710 21/24 83 50 31 56 54 0 CFAP57,stop_gained,p.Arg1075Ter,ENST00000372492,;CFAP57,stop_gained,p.Arg1108Ter,ENST00000610710,NM_001195831.2;EBNA1BP2,intron_variant,,ENST00000461557,;EBNA1BP2,intron_variant,,ENST00000466927,;EBNA1BP2,intron_variant,,ENST00000474566,; T ENSG00000243710 ENST00000610710 Transcript stop_gained 3468/4162 3322/3852 1108/1283 R/* Cga/Tga rs1383479936 1 1 CFAP57 HGNC HGNC:26485 protein_coding YES CCDS72768.1 ENSP00000479773 A0A087WVY5 UPI000223C368 NM_001195831.2 21/24 hmmpanther:PTHR32215:SF0,hmmpanther:PTHR32215,Gene3D:1.20.1170.10 HIGH 1 SNV 5 PASS TCG . . 6.976e-06 4.2e-05 43234375 MED8 . GRCh38 chr1 43387559 43387559 + Missense_Mutation SNP G G A rs200153992 7316-942 BS_G3PJTB8B G G c.214C>T p.Arg72Cys p.R72C ENST00000290663 3/8 91 68 21 29 29 0 MED8,missense_variant,p.Arg72Cys,ENST00000372457,NM_201542.4;MED8,missense_variant,p.Arg72Cys,ENST00000290663,NM_052877.4;MED8,5_prime_UTR_variant,,ENST00000372455,NM_001001653.2;SZT2,upstream_gene_variant,,ENST00000372450,;SZT2,upstream_gene_variant,,ENST00000562955,NM_015284.3;SZT2,upstream_gene_variant,,ENST00000634258,;AL139289.1,non_coding_transcript_exon_variant,,ENST00000436713,;MED8,non_coding_transcript_exon_variant,,ENST00000473560,;SZT2,upstream_gene_variant,,ENST00000357658,;SZT2,upstream_gene_variant,,ENST00000406439,;MED8,upstream_gene_variant,,ENST00000460803,;SZT2,upstream_gene_variant,,ENST00000638631,; A ENSG00000159479 ENST00000290663 Transcript missense_variant 258/1483 214/906 72/301 R/C Cgt/Tgt rs200153992 1 -1 MED8 HGNC HGNC:19971 protein_coding YES CCDS486.2 ENSP00000290663 Q96G25 UPI000019C3FD NM_052877.4 deleterious(0.02) probably_damaging(0.966) 3/8 Gene3D:1.20.1170.10,Pfam_domain:PF10232,hmmpanther:PTHR13074 0.0002 0.001 0.000227 MODERATE SNV 5 PASS CGG . . 8.527e-05 0.0003267 5.798e-05 0.0001164 0.0001823 3.249e-05 43387559 LRRC40 . GRCh38 chr1 70187344 70187344 + Splice_Region SNP A A C novel 7316-942 BS_G3PJTB8B A A c.334-6T>G ENST00000370952 102 74 24 44 43 0 LRRC40,splice_region_variant,,ENST00000370952,NM_017768.4; C ENSG00000066557 ENST00000370952 Transcript splice_region_variant,intron_variant 1 -1 LRRC40 HGNC HGNC:26004 protein_coding YES CCDS646.1 ENSP00000359990 Q9H9A6 A0A140VJN3 UPI000004A0A0 NM_017768.4 2/14 LOW 1 SNV 1 PASS AAG . . 70187344 MCOLN2 . GRCh38 chr1 84965643 84965643 + Missense_Mutation SNP T T C 7316-942 BS_G3PJTB8B T T c.143A>G p.Tyr48Cys p.Y48C ENST00000370608 2/14 88 79 8 39 38 0 MCOLN2,missense_variant,p.Tyr48Cys,ENST00000370608,NM_153259.3;MCOLN2,missense_variant,p.Tyr20Cys,ENST00000284027,;MCOLN2,non_coding_transcript_exon_variant,,ENST00000531325,;MCOLN2,non_coding_transcript_exon_variant,,ENST00000531874,;MCOLN2,missense_variant,p.Tyr48Cys,ENST00000463065,; C ENSG00000153898 ENST00000370608 Transcript missense_variant 211/2871 143/1701 48/566 Y/C tAc/tGc COSM5496979 1 -1 MCOLN2 HGNC HGNC:13357 protein_coding YES CCDS30762.1 ENSP00000359640 Q8IZK6 UPI00001D7674 NM_153259.3 deleterious(0) probably_damaging(0.998) 2/14 hmmpanther:PTHR12127:SF4,hmmpanther:PTHR12127 1 MODERATE 1 SNV 1 1 PASS GTA . . 84965643 HRNR . GRCh38 chr1 152219065 152219065 + Missense_Mutation SNP C C G novel 7316-942 BS_G3PJTB8B C C c.2564G>C p.Gly855Ala p.G855A ENST00000368801 3/3 84 58 24 38 35 0 HRNR,missense_variant,p.Gly855Ala,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;,regulatory_region_variant,,ENSR00000254438,; G ENSG00000197915 ENST00000368801 Transcript missense_variant 2640/9623 2564/8553 855/2850 G/A gGc/gCc 1 -1 HRNR HGNC HGNC:20846 protein_coding YES CCDS30859.1 ENSP00000357791 Q86YZ3 UPI00001D7CAD NM_001009931.2 deleterious(0.03) possibly_damaging(0.461) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25 MODERATE 1 SNV 1 PASS GCC . . 152219065 PRG4 . GRCh38 chr1 186307986 186307986 + Missense_Mutation SNP G G A rs878890668 7316-942 BS_G3PJTB8B G G c.2267G>A p.Gly756Glu p.G756E ENST00000445192 7/13 90 72 11 22 20 0 PRG4,missense_variant,p.Gly756Glu,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Gly715Glu,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Gly713Glu,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Gly663Glu,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Gly622Glu,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,; A ENSG00000116690 ENST00000445192 Transcript missense_variant 2312/5044 2267/4215 756/1404 G/E gGg/gAg rs878890668,COSM6238429 1 1 PRG4 HGNC HGNC:9364 protein_coding YES CCDS1369.1 ENSP00000399679 Q92954 UPI0004620CBB NM_005807.4 tolerated(1) benign(0) 7/13 hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 5 0,1 1 PASS GGG . . 186307986 HLX . GRCh38 chr1 220880354 220880354 + Missense_Mutation SNP C C T novel 7316-942 BS_G3PJTB8B C C c.497C>T p.Ala166Val p.A166V ENST00000366903 1/4 83 56 24 39 38 0 HLX,missense_variant,p.Ala166Val,ENST00000366903,NM_021958.3;HLX,upstream_gene_variant,,ENST00000427693,;HLX-AS1,upstream_gene_variant,,ENST00000552026,;HLX,non_coding_transcript_exon_variant,,ENST00000549319,;,regulatory_region_variant,,ENSR00000020421,; T ENSG00000136630 ENST00000366903 Transcript missense_variant 955/2280 497/1467 166/488 A/V gCc/gTc 1 1 HLX HGNC HGNC:4978 protein_coding YES CCDS1527.1 ENSP00000355870 Q14774 UPI000006D76F NM_021958.3 tolerated(0.08) benign(0.003) 1/4 Gene3D:1.10.110.10,hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF7,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCC . . 220880354 RTKN . GRCh38 chr2 74441734 74441734 + Missense_Mutation SNP C C G novel 7316-942 BS_G3PJTB8B C C c.83G>C p.Arg28Pro p.R28P ENST00000272430 1/12 88 80 6 33 33 0 RTKN,missense_variant,p.Arg28Pro,ENST00000272430,NM_001015055.1;RTKN,upstream_gene_variant,,ENST00000233330,NM_001015056.1;RTKN,upstream_gene_variant,,ENST00000305557,NM_033046.2;RTKN,non_coding_transcript_exon_variant,,ENST00000484453,;RTKN,intron_variant,,ENST00000479256,;RTKN,non_coding_transcript_exon_variant,,ENST00000472518,;RTKN,upstream_gene_variant,,ENST00000460968,;RTKN,upstream_gene_variant,,ENST00000464094,;,regulatory_region_variant,,ENSR00000119160,; G ENSG00000114993 ENST00000272430 Transcript missense_variant 166/2142 83/1692 28/563 R/P cGa/cCa 1 -1 RTKN HGNC HGNC:10466 protein_coding YES CCDS33226.1 ENSP00000272430 Q9BST9 UPI0000031F56 NM_001015055.1 deleterious(0.01) possibly_damaging(0.476) 1/12 hmmpanther:PTHR21538:SF19,hmmpanther:PTHR21538 MODERATE 1 SNV 1 PASS TCG . . 74441734 ABI2 . GRCh38 chr2 203380227 203380227 + Missense_Mutation SNP A A T novel 7316-942 BS_G3PJTB8B A A c.305A>T p.Glu102Val p.E102V ENST00000295851 3/11 96 77 17 46 46 0 ABI2,missense_variant,p.Glu102Val,ENST00000295851,;ABI2,missense_variant,p.Glu102Val,ENST00000261018,NM_001282925.1;ABI2,missense_variant,p.Glu46Val,ENST00000261016,NM_001282927.1,NM_001282932.1;ABI2,missense_variant,p.Glu102Val,ENST00000261017,NM_005759.5;ABI2,missense_variant,p.Glu102Val,ENST00000422511,;ABI2,missense_variant,p.Glu102Val,ENST00000424558,NM_001282926.1;ABI2,missense_variant,p.Glu102Val,ENST00000430418,;ABI2,missense_variant,p.Glu102Val,ENST00000417864,;ABI2,upstream_gene_variant,,ENST00000451591,;ABI2,non_coding_transcript_exon_variant,,ENST00000411547,;ABI2,non_coding_transcript_exon_variant,,ENST00000376135,;ABI2,upstream_gene_variant,,ENST00000422719,;ABI2,upstream_gene_variant,,ENST00000430574,;ABI2,3_prime_UTR_variant,,ENST00000441061,;ABI2,3_prime_UTR_variant,,ENST00000447762,;ABI2,3_prime_UTR_variant,,ENST00000431886,;ABI2,3_prime_UTR_variant,,ENST00000444584,;ABI2,intron_variant,,ENST00000416001,;ABI2,downstream_gene_variant,,ENST00000413635,; T ENSG00000138443 ENST00000295851 Transcript missense_variant 601/22209 305/1542 102/513 E/V gAg/gTg 1 1 ABI2 HGNC HGNC:24011 protein_coding YES CCDS63093.1 ENSP00000295851 F8WAL6 UPI000013D12C deleterious(0) probably_damaging(0.983) 3/11 PROSITE_profiles:PS50192,hmmpanther:PTHR10460:SF0,hmmpanther:PTHR10460,Pfam_domain:PF07815 MODERATE 1 SNV 1 PASS GAG . . 203380227 SCYGR5 . GRCh38 chr2 227666885 227666885 + Missense_Mutation SNP T T C novel 7316-942 BS_G3PJTB8B T T c.82T>C p.Cys28Arg p.C28R ENST00000641976 1/1 86 57 27 34 34 0 SCYGR5,missense_variant,p.Cys28Arg,ENST00000641976,; C ENSG00000284667 ENST00000641976 Transcript missense_variant 82/258 82/258 28/85 C/R Tgc/Cgc 1 1 SCYGR5 HGNC HGNC:34224 protein_coding YES ENSP00000493101 A0A286YF46 UPI000BAD5995 unknown(0) 1/1 Low_complexity_(Seg):seg MODERATE 1 SNV PASS GTG . . 227666885 DIS3L2P1 . GRCh38 chr2 232445449 232445449 + Splice_Region SNP A A T novel 7316-942 BS_G3PJTB8B A A n.296A>T ENST00000509197 3/5 72 51 18 21 19 0 DIS3L2P1,splice_region_variant,,ENST00000509197,; T ENSG00000223788 ENST00000509197 Transcript splice_region_variant,non_coding_transcript_exon_variant 296/559 1 1 DIS3L2P1 HGNC HGNC:14021 unprocessed_pseudogene YES 3/5 LOW 1 SNV PASS AAG . . 232445449 NLGN1 . GRCh38 chr3 174279249 174279249 + Frame_Shift_Del DEL A A - novel 7316-942 BS_G3PJTB8B A A c.1250del p.Asn417IlefsTer16 p.N417Ifs*16 ENST00000457714 6/7 86 28 48 37 35 0 NLGN1,frameshift_variant,p.Asn417IlefsTer16,ENST00000457714,NM_014932.3;NLGN1,frameshift_variant,p.Asn417IlefsTer16,ENST00000361589,;NLGN1,frameshift_variant,p.Asn202IlefsTer16,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000490929,; - ENSG00000169760 ENST00000457714 Transcript frameshift_variant 1677/8242 1248/2472 416/823 S/X tcA/tc 1 1 NLGN1 HGNC HGNC:14291 protein_coding YES CCDS3222.1 ENSP00000392500 Q8N2Q7 UPI0000072F54 NM_014932.3 6/7 Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR43903,hmmpanther:PTHR43903:SF2,Superfamily_domains:SSF53474 HIGH 1 deletion 1 2 PASS TCAA . . 174279248 MUC4 . GRCh38 chr3 195778917 195778917 + Missense_Mutation SNP G G C rs2550253 7316-942 BS_G3PJTB8B G G c.12663C>G p.His4221Gln p.H4221Q ENST00000463781 2/25 118 71 39 26 22 1 MUC4,missense_variant,p.His4221Gln,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His4221Gln,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His4221Gln,ENST00000478156,;MUC4,missense_variant,p.His4221Gln,ENST00000466475,;MUC4,missense_variant,p.His4221Gln,ENST00000477756,;MUC4,missense_variant,p.His4221Gln,ENST00000477086,;MUC4,missense_variant,p.His4221Gln,ENST00000480843,;MUC4,missense_variant,p.His4221Gln,ENST00000462323,;MUC4,missense_variant,p.His4221Gln,ENST00000470451,;MUC4,missense_variant,p.His4221Gln,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 13123/17110 12663/16239 4221/5412 H/Q caC/caG rs2550253,COSM3774057 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.08) possibly_damaging(0.702) 2/25 mobidb-lite,hmmpanther:PTHR42668 0.1434 0.0855 0.1499 0.2044 0.1531 0.1442 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGT . . 0.1778 0.1226 0.1013 0.1892 0.3119 0.3079 0.1858 0.1636 0.08659 195778917 MUC4 . GRCh38 chr3 195785324 195785324 + Missense_Mutation SNP C C T rs71617308 7316-942 BS_G3PJTB8B C C c.6256G>A p.Ala2086Thr p.A2086T ENST00000463781 2/25 40 32 7 24 21 0 MUC4,missense_variant,p.Ala2086Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala2086Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala2086Thr,ENST00000478156,;MUC4,missense_variant,p.Ala2086Thr,ENST00000466475,;MUC4,missense_variant,p.Ala2086Thr,ENST00000477756,;MUC4,missense_variant,p.Ala2086Thr,ENST00000477086,;MUC4,missense_variant,p.Ala2086Thr,ENST00000480843,;MUC4,missense_variant,p.Ala2086Thr,ENST00000462323,;MUC4,missense_variant,p.Ala2086Thr,ENST00000470451,;MUC4,missense_variant,p.Ala2086Thr,ENST00000479406,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 6716/17110 6256/16239 2086/5412 A/T Gct/Act rs71617308,COSM4157794 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.6) possibly_damaging(0.494) 2/25 hmmpanther:PTHR42668 0.0042 0.0008 0.001 0.0194 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCG . . 0.01168 0.0119 0.00573 0.01239 0.01097 0.01218 0.01761 0.02142 195785324 DGKQ . GRCh38 chr4 968280 968280 + Splice_Site SNP A A C rs777505317 7316-942 BS_G3PJTB8B A A c.663+2T>G p.X221_splice ENST00000273814 42 23 11 23 21 0 DGKQ,splice_donor_variant,,ENST00000273814,NM_001347.3;DGKQ,splice_donor_variant,,ENST00000509465,;DGKQ,downstream_gene_variant,,ENST00000510286,;DGKQ,upstream_gene_variant,,ENST00000502309,; C ENSG00000145214 ENST00000273814 Transcript splice_donor_variant rs777505317,COSM6214405 1 -1 DGKQ HGNC HGNC:2856 protein_coding YES CCDS3342.1 ENSP00000273814 P52824 A0A140VKC1 UPI00001AE9B4 NM_001347.3 5/22 0,1 HIGH 1 SNV 1 0,1 PASS CAC . . 0.001771 0.002488 0.003734 0.01488 0.001239 0.00188 0.001081 968280 SDHA . GRCh38 chr5 256369 256370 + Frame_Shift_Del DEL TT TT - rs112307877 7316-942 BS_G3PJTB8B TT TT c.1945_1946del p.Leu649GlufsTer4 p.L649Efs*4 ENST00000264932 15/15 69 58 7 35 35 0 SDHA,frameshift_variant,p.Leu649GlufsTer4,ENST00000264932,NM_004168.3;SDHA,frameshift_variant,p.Leu601GlufsTer4,ENST00000510361,NM_001294332.1;SDHA,frameshift_variant,p.Leu568GlufsTer4,ENST00000504309,;SDHA,frameshift_variant,p.Leu504GlufsTer4,ENST00000617470,;SDHA,3_prime_UTR_variant,,ENST00000515815,;SDHA,3_prime_UTR_variant,,ENST00000509564,;SDHA,non_coding_transcript_exon_variant,,ENST00000507522,;SDHA,non_coding_transcript_exon_variant,,ENST00000509082,;SDHA,non_coding_transcript_exon_variant,,ENST00000511810,;SDHA,non_coding_transcript_exon_variant,,ENST00000503674,;SDHA,non_coding_transcript_exon_variant,,ENST00000514027,;SDHA,non_coding_transcript_exon_variant,,ENST00000515752,;SDHA,downstream_gene_variant,,ENST00000505555,; - ENSG00000073578 ENST00000264932 Transcript frameshift_variant 2059-2060/2390 1944-1945/1995 648-649/664 TL/TX acTTtg/actg rs112307877,COSM111560 1 1 SDHA HGNC HGNC:10680 protein_coding YES CCDS3853.1 ENSP00000264932 P31040 A0A024QZ30 UPI0000000C2C NM_004168.3 15/15 hmmpanther:PTHR11632,hmmpanther:PTHR11632:SF51,Gene3D:4.10.80.40,Pfam_domain:PF02910,Superfamily_domains:SSF46977,TIGRFAM_domain:TIGR01816 0,1 HIGH 1 deletion 1 1 0,1 1 PASS ACTTT . . 8.281e-06 6.748e-05 3.077e-05 256368 PCDHB8 . GRCh38 chr5 141178947 141178947 + Missense_Mutation SNP A A G rs3733694 7316-942 BS_G3PJTB8B A A c.913A>G p.Lys305Glu p.K305E ENST00000239444 1/1 138 80 54 96 79 14 PCDHB8,missense_variant,p.Lys305Glu,ENST00000239444,NM_019120.4;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;AC244517.6,upstream_gene_variant,,ENST00000623884,;PCDHB16,upstream_gene_variant,,ENST00000625044,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,downstream_gene_variant,,ENST00000624089,;AC244517.4,downstream_gene_variant,,ENST00000624549,;AC244517.2,upstream_gene_variant,,ENST00000624802,;AC244517.8,intron_variant,,ENST00000623995,;AC244517.6,upstream_gene_variant,,ENST00000623407,;,regulatory_region_variant,,ENSR00000317579,; G ENSG00000120322 ENST00000239444 Transcript missense_variant 1158/2740 913/2406 305/801 K/E Aag/Gag rs3733694,COSM1741310 1 1 PCDHB8 HGNC HGNC:8693 protein_coding YES CCDS4250.1 ENSP00000239444 Q9UN66 UPI000192C41A NM_019120.4 tolerated_low_confidence(0.14) benign(0.315) 1/1 Gene3D:2.60.350.10,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF150,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 0.1286 0.177 0.1787 0.0407 0.1531 0.093 0.1754 0.1449 0,1 MODERATE SNV 0,1 PASS AAA . . 0.1376 0.1718 0.167 0.1904 0.03292 0.08884 0.155 0.1481 0.1025 141178947 GABBR1 . GRCh38 chr6 29622112 29622112 + Missense_Mutation SNP T T A novel 7316-942 BS_G3PJTB8B T T c.1057A>T p.Asn353Tyr p.N353Y ENST00000377034 9/23 60 28 30 36 35 0 GABBR1,missense_variant,p.Asn353Tyr,ENST00000377034,NM_001470.3;GABBR1,missense_variant,p.Asn291Tyr,ENST00000377016,NM_021904.3;GABBR1,missense_variant,p.Asn236Tyr,ENST00000377012,NM_001319053.1,NM_021903.2;GABBR1,missense_variant,p.Asn236Tyr,ENST00000355973,;GABBR1,missense_variant,p.Asn353Tyr,ENST00000376977,;GABBR1,missense_variant,p.Asn353Tyr,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,3_prime_UTR_variant,,ENST00000485508,;GABBR1,non_coding_transcript_exon_variant,,ENST00000494634,;GABBR1,non_coding_transcript_exon_variant,,ENST00000477029,; A ENSG00000204681 ENST00000377034 Transcript missense_variant 1393/4527 1057/2886 353/961 N/Y Aac/Tac 1 -1 GABBR1 HGNC HGNC:4070 protein_coding YES CCDS4663.1 ENSP00000366233 Q9UBS5 A0A1U9X7R0 UPI000004618A NM_001470.3 deleterious(0) probably_damaging(0.989) 9/23 cd06366,hmmpanther:PTHR10519:SF42,hmmpanther:PTHR10519,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR01176 MODERATE 1 SNV 1 PASS TTT . . 29622112 MUC22 . GRCh38 chr6 31026894 31026894 + Missense_Mutation SNP A A C rs575443639 7316-942 BS_G3PJTB8B A A c.1463A>C p.Lys488Thr p.K488T ENST00000561890 2/4 76 58 13 31 28 0 MUC22,missense_variant,p.Lys488Thr,ENST00000561890,NM_001198815.1,NM_001318484.1; C ENSG00000261272 ENST00000561890 Transcript missense_variant 1696/6019 1463/5322 488/1773 K/T aAa/aCa rs575443639 1 1 MUC22 HGNC HGNC:39755 protein_coding YES CCDS59003.1 ENSP00000455906 E2RYF6 UPI0001E92A31 NM_001198815.1,NM_001318484.1 tolerated(1) unknown(0) 2/4 mobidb-lite,hmmpanther:PTHR37000 0.0012 0.0008 0.0051 MODERATE 1 SNV 2 PASS AAA . . 31026894 RAB44 . GRCh38 chr6 36721882 36721882 + Missense_Mutation SNP C C G novel 7316-942 BS_G3PJTB8B C C c.1748C>G p.Pro583Arg p.P583R ENST00000612677 9/14 54 29 23 35 34 0 RAB44,missense_variant,p.Pro583Arg,ENST00000612677,NM_001257357.1; G ENSG00000255587 ENST00000612677 Transcript missense_variant 1866/4274 1748/3066 583/1021 P/R cCc/cGc 1 1 RAB44 HGNC HGNC:21068 protein_coding YES CCDS75442.1 ENSP00000481054 A0A087WXI0 UPI0002656658 NM_001257357.1 deleterious_low_confidence(0) probably_damaging(0.943) 9/14 mobidb-lite MODERATE 1 SNV 5 PASS CCC . . 36721882 DAAM2 . GRCh38 chr6 39878482 39878482 + Missense_Mutation SNP T T A novel 7316-942 BS_G3PJTB8B T T c.1439T>A p.Met480Lys p.M480K ENST00000398904 13/25 75 41 32 39 36 0 DAAM2,missense_variant,p.Met480Lys,ENST00000538976,NM_015345.3;DAAM2,missense_variant,p.Met480Lys,ENST00000398904,;DAAM2,missense_variant,p.Met480Lys,ENST00000274867,NM_001201427.1;DAAM2,missense_variant,p.Met480Lys,ENST00000633794,;AL590999.1,downstream_gene_variant,,ENST00000607675,;DAAM2,non_coding_transcript_exon_variant,,ENST00000491083,; A ENSG00000146122 ENST00000398904 Transcript missense_variant 1621/6224 1439/3207 480/1068 M/K aTg/aAg 1 1 DAAM2 HGNC HGNC:18143 protein_coding YES CCDS56426.1 ENSP00000381876 Q86T65 UPI000020DC88 tolerated(0.17) probably_damaging(0.916) 13/25 Gene3D:1.10.287.620,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF171 MODERATE SNV 5 PASS ATG . . 39878482 SAMD9 . GRCh38 chr7 93103730 93103730 + Nonsense_Mutation SNP C C A 7316-942 BS_G3PJTB8B C C c.2368G>T p.Glu790Ter p.E790* ENST00000379958 3/3 89 78 10 47 46 0 SAMD9,stop_gained,p.Glu790Ter,ENST00000379958,NM_017654.3;SAMD9,stop_gained,p.Glu790Ter,ENST00000620985,NM_001193307.1;SAMD9,stop_gained,p.Glu790Ter,ENST00000446617,; A ENSG00000205413 ENST00000379958 Transcript stop_gained 2638/6852 2368/4770 790/1589 E/* Gaa/Taa COSM5905729 1 -1 SAMD9 HGNC HGNC:1348 protein_coding YES CCDS34680.1 ENSP00000369292 Q5K651 UPI0000038BC6 NM_017654.3 3/3 Gene3D:1.25.40.10,hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF17,Superfamily_domains:SSF52540 1 HIGH 1 SNV 1 1 1 PASS TCC . . 93103730 MGAM . GRCh38 chr7 142032892 142032892 + Missense_Mutation SNP A A T novel 7316-942 BS_G3PJTB8B A A c.1652A>T p.Asn551Ile p.N551I ENST00000549489 14/48 77 35 36 54 48 1 MGAM,missense_variant,p.Asn551Ile,ENST00000475668,;MGAM,missense_variant,p.Asn551Ile,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Asn551Ile,ENST00000620571,;MGAM,downstream_gene_variant,,ENST00000495045,; T ENSG00000257335 ENST00000549489 Transcript missense_variant 1747/6525 1652/5574 551/1857 N/I aAt/aTt 1 1 MGAM HGNC HGNC:7043 protein_coding YES CCDS47727.1 ENSP00000447378 O43451 UPI000183CB7B NM_004668.2 tolerated(0.07) benign(0.212) 14/48 PDB-ENSP_mappings:2qly.A,PDB-ENSP_mappings:2qmj.A,Gene3D:3.20.20.80,PDB-ENSP_mappings:3ctt.A,PDB-ENSP_mappings:3l4t.A,PDB-ENSP_mappings:3l4u.A,PDB-ENSP_mappings:3l4v.A,PDB-ENSP_mappings:3l4w.A,PDB-ENSP_mappings:3l4x.A,PDB-ENSP_mappings:3l4y.A,PDB-ENSP_mappings:3l4z.A,Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF63,cd06602 MODERATE 1 SNV 1 PASS AAT . . 142032892 TRAM1 . GRCh38 chr8 70597939 70597939 + Missense_Mutation SNP A A G novel 7316-942 BS_G3PJTB8B A A c.382T>C p.Phe128Leu p.F128L ENST00000262213 4/11 62 49 11 28 28 0 TRAM1,missense_variant,p.Phe42Leu,ENST00000521425,NM_001317805.1;TRAM1,missense_variant,p.Phe128Leu,ENST00000262213,NM_014294.5,NM_001317804.1;TRAM1,missense_variant,p.Phe97Leu,ENST00000518678,;TRAM1,non_coding_transcript_exon_variant,,ENST00000521049,;TRAM1,non_coding_transcript_exon_variant,,ENST00000520700,; G ENSG00000067167 ENST00000262213 Transcript missense_variant 552/2785 382/1125 128/374 F/L Ttc/Ctc 1 -1 TRAM1 HGNC HGNC:20568 protein_coding YES CCDS6207.1 ENSP00000262213 Q15629 Q6FHL3 UPI0000001C66 NM_014294.5,NM_001317804.1 deleterious(0) probably_damaging(0.999) 4/11 Pfam_domain:PF03798,PIRSF_domain:PIRSF005449,PROSITE_profiles:PS50922,hmmpanther:PTHR12371,hmmpanther:PTHR12371:SF3,SMART_domains:SM00724,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS AAC . . 70597939 AC022274.1 . GRCh38 chr8 75167912 75167912 + Splice_Site SNP C C T novel 7316-942 BS_G3PJTB8B C C n.283-1G>A ENST00000467082 49 35 6 23 20 0 AC022274.1,splice_acceptor_variant,,ENST00000467082,; T ENSG00000253712 ENST00000467082 Transcript splice_acceptor_variant,non_coding_transcript_variant 1 -1 AC022274.1 Clone_based_ensembl_gene lincRNA YES 1/1 HIGH 1 SNV 5 PASS TCT . . 75167912 CEMIP2 . GRCh38 chr9 71717978 71717978 + Missense_Mutation SNP C C T novel 7316-942 BS_G3PJTB8B C C c.2369G>A p.Arg790Lys p.R790K ENST00000377044 13/24 88 65 21 36 36 0 CEMIP2,missense_variant,p.Arg790Lys,ENST00000377044,NM_013390.2;CEMIP2,missense_variant,p.Arg727Lys,ENST00000377066,NM_001135820.1;CEMIP2,3_prime_UTR_variant,,ENST00000542935,; T ENSG00000135048 ENST00000377044 Transcript missense_variant 2909/6523 2369/4152 790/1383 R/K aGa/aAa 1 -1 CEMIP2 HGNC HGNC:11869 protein_coding YES CCDS6638.1 ENSP00000366243 Q9UHN6 A0A024R229 UPI0000071E8D NM_013390.2 deleterious(0) probably_damaging(0.956) 13/24 Gene3D:2.160.20.10,hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17 MODERATE 1 SNV 1 PASS TCT . . 71717978 PTCHD3 . GRCh38 chr10 27403350 27403350 + Missense_Mutation SNP A C C rs2484180 7316-942 BS_G3PJTB8B A A c.1219T>G p.Cys407Gly p.C407G ENST00000438700 3/4 54 15 38 32 26 6 PTCHD3,missense_variant,p.Cys407Gly,ENST00000438700,NM_001034842.3;PTCHD3,missense_variant,p.Cys407Gly,ENST00000622555,;PTCHD3,missense_variant,p.Cys407Gly,ENST00000642324,; C ENSG00000182077 ENST00000438700 Transcript missense_variant 1337/2528 1219/2304 407/767 C/G Tgc/Ggc rs2484180 1 -1 PTCHD3 HGNC HGNC:24776 protein_coding YES CCDS31173.1 ENSP00000417658 Q3KNS1 UPI000004E892 NM_001034842.3 deleterious(0.01) probably_damaging(0.962) 3/4 Gene3D:1.20.1640.10,Pfam_domain:PF02460,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Superfamily_domains:SSF82866 0.4319 0.4228 0.4107 0.5417 0.3907 0.3885 0.4585 0.395 16385451,27142222 MODERATE 1 SNV 1 PASS CAG . . 0.3961 0.4302 0.3961 0.3704 0.5238 0.328 0.3914 0.394 0.3808 27403350 MKI67 . GRCh38 chr10 128116543 128116543 + Splice_Region SNP G G A novel 7316-942 BS_G3PJTB8B G G c.355-7C>T ENST00000368654 64 57 7 43 41 0 MKI67,splice_region_variant,,ENST00000368653,NM_001145966.1;MKI67,splice_region_variant,,ENST00000368654,NM_002417.4;MKI67,splice_region_variant,,ENST00000478293,;MKI67,upstream_gene_variant,,ENST00000484853,; A ENSG00000148773 ENST00000368654 Transcript splice_region_variant,intron_variant 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 5/14 LOW 1 SNV 2 PASS AGT . . 128116543 MUC5AC . GRCh38 chr11 1189573 1189573 + Missense_Mutation SNP T T C rs1462953442 7316-942 BS_G3PJTB8B T T c.11428T>C p.Ser3810Pro p.S3810P ENST00000621226 31/49 106 85 11 27 25 0 MUC5AC,missense_variant,p.Ser3810Pro,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 11475/17448 11428/16965 3810/5654 S/P Tcc/Ccc rs1462953442 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.38) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TTC . . 1189573 MUC5B . GRCh38 chr11 1244642 1244642 + Missense_Mutation SNP G G A rs200110372 7316-942 BS_G3PJTB8B G G c.7762G>A p.Gly2588Arg p.G2588R ENST00000529681 31/49 112 92 16 32 28 0 MUC5B,missense_variant,p.Gly2588Arg,ENST00000529681,NM_002458.2;AC061979.1,intron_variant,,ENST00000532061,; A ENSG00000117983 ENST00000529681 Transcript missense_variant 7820/17911 7762/17289 2588/5762 G/R Ggg/Agg rs200110372,COSM1475202,COSM1475201 1 1 MUC5B HGNC HGNC:7516 protein_coding YES CCDS44515.2 ENSP00000436812 Q9HC84 UPI0001DD21C7 NM_002458.2 tolerated(0.12) benign(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS CGG . . 0.0009873 0.002446 0.0006879 0.0003073 0.001161 0.0002329 0.0007087 0.0005539 0.00232 1244642 OR2D3 . GRCh38 chr11 6921491 6921491 + Missense_Mutation SNP T T C novel 7316-942 BS_G3PJTB8B T T c.490T>C p.Ser164Pro p.S164P ENST00000317834 1/1 95 84 9 35 32 0 OR2D3,missense_variant,p.Ser164Pro,ENST00000317834,NM_001004684.1;ZNF215,upstream_gene_variant,,ENST00000278319,NM_013250.2;ZNF215,upstream_gene_variant,,ENST00000610573,;AC087280.2,intron_variant,,ENST00000637205,;ZNF215,upstream_gene_variant,,ENST00000527171,;ZNF215,upstream_gene_variant,,ENST00000529755,;ZNF215,upstream_gene_variant,,ENST00000636097,;ZNF215,upstream_gene_variant,,ENST00000636606,; C ENSG00000178358 ENST00000317834 Transcript missense_variant 518/1070 490/993 164/330 S/P Tcc/Ccc 1 1 OR2D3 HGNC HGNC:15146 protein_coding YES CCDS31417.1 ENSP00000320560 Q8NGH3 UPI0000041C7D NM_001004684.1 deleterious(0.01) benign(0.429) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15428,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF136,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 MODERATE SNV PASS GTC . . 6921491 LUZP2 . GRCh38 chr11 24763309 24763309 + Splice_Site SNP G G T novel 7316-942 BS_G3PJTB8B G G c.396+1G>T p.X132_splice ENST00000336930 89 82 7 48 45 0 LUZP2,splice_donor_variant,,ENST00000336930,NM_001252010.1,NM_001009909.3;LUZP2,splice_donor_variant,,ENST00000529015,;LUZP2,splice_donor_variant,,ENST00000533227,NM_001252008.1;LUZP2,splice_donor_variant,,ENST00000620308,;LUZP2,splice_donor_variant,,ENST00000405855,;LUZP2,splice_donor_variant,,ENST00000531187,;LUZP2,intron_variant,,ENST00000449567,; T ENSG00000187398 ENST00000336930 Transcript splice_donor_variant 1 1 LUZP2 HGNC HGNC:23206 protein_coding YES CCDS31446.1 ENSP00000336817 Q86TE4 UPI000019816C NM_001252010.1,NM_001009909.3 5/11 HIGH 1 SNV 1 PASS GGT . . 24763309 AMBRA1 . GRCh38 chr11 46443587 46443587 + Missense_Mutation SNP C C T rs1019887244 7316-942 BS_G3PJTB8B C C c.2353G>A p.Gly785Ser p.G785S ENST00000534300 11/17 86 73 11 49 49 0 AMBRA1,missense_variant,p.Gly845Ser,ENST00000458649,;AMBRA1,missense_variant,p.Gly785Ser,ENST00000534300,NM_001300731.1;AMBRA1,missense_variant,p.Gly755Ser,ENST00000314845,NM_017749.3,NM_001267782.1;AMBRA1,missense_variant,p.Gly726Ser,ENST00000533727,NM_001267783.1;AMBRA1,missense_variant,p.Gly816Ser,ENST00000528950,;AMBRA1,non_coding_transcript_exon_variant,,ENST00000529553,; T ENSG00000110497 ENST00000534300 Transcript missense_variant 2667/5067 2353/3717 785/1238 G/S Ggt/Agt rs1019887244 1 -1 AMBRA1 HGNC HGNC:25990 protein_coding YES CCDS73281.1 ENSP00000431926 Q9C0C7 UPI00005A6107 NM_001300731.1 deleterious_low_confidence(0.01) probably_damaging(0.999) 11/17 hmmpanther:PTHR22874,Gene3D:2.130.10.10 MODERATE 1 SNV 1 PASS CCG . . 8.134e-06 2.981e-05 8.966e-06 46443587 INPPL1 . GRCh38 chr11 72232629 72232629 + Missense_Mutation SNP G G T novel 7316-942 BS_G3PJTB8B G G c.1716G>T p.Arg572Ser p.R572S ENST00000298229 15/28 88 75 13 24 20 0 INPPL1,missense_variant,p.Arg572Ser,ENST00000298229,NM_001567.3;INPPL1,missense_variant,p.Arg330Ser,ENST00000538751,;INPPL1,missense_variant,p.Arg506Ser,ENST00000541756,;INPPL1,downstream_gene_variant,,ENST00000537656,;INPPL1,downstream_gene_variant,,ENST00000540329,;INPPL1,upstream_gene_variant,,ENST00000541752,;INPPL1,non_coding_transcript_exon_variant,,ENST00000541303,;INPPL1,upstream_gene_variant,,ENST00000535985,;INPPL1,downstream_gene_variant,,ENST00000537755,;INPPL1,downstream_gene_variant,,ENST00000538339,;INPPL1,downstream_gene_variant,,ENST00000541544,;INPPL1,downstream_gene_variant,,ENST00000544806,;INPPL1,upstream_gene_variant,,ENST00000545355,; T ENSG00000165458 ENST00000298229 Transcript missense_variant 1920/4733 1716/3777 572/1258 R/S agG/agT 1 1 INPPL1 HGNC HGNC:6080 protein_coding YES CCDS8213.1 ENSP00000298229 O15357 UPI000013E4AF NM_001567.3 deleterious(0) probably_damaging(0.999) 15/28 Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF15,SMART_domains:SM00128,Superfamily_domains:SSF56219,cd09101 MODERATE 1 SNV 1 1 PASS GGA . . 72232629 ALG8 . GRCh38 chr11 78112732 78112736 + Frame_Shift_Del DEL GAAAG GAAAG - novel 7316-942 BS_G3PJTB8B GAAAG GAAAG c.812_816del p.Pro271GlnfsTer35 p.P271Qfs*35 ENST00000299626 8/13 103 77 23 48 46 0 ALG8,frameshift_variant,p.Pro271GlnfsTer35,ENST00000376156,NM_001007027.2;ALG8,frameshift_variant,p.Pro271GlnfsTer35,ENST00000299626,NM_024079.4;ALG8,frameshift_variant,p.Pro271GlnfsTer35,ENST00000615266,;ALG8,frameshift_variant,p.Pro272GlnfsTer?,ENST00000530454,;ALG8,frameshift_variant,p.Pro220GlnfsTer?,ENST00000525755,;ALG8,frameshift_variant,p.Pro31GlnfsTer52,ENST00000530608,;ALG8,frameshift_variant,p.Pro116GlnfsTer39,ENST00000529139,;ALG8,frameshift_variant,p.Pro89GlnfsTer35,ENST00000532440,;ALG8,frameshift_variant,p.Pro6GlnfsTer35,ENST00000525783,;ALG8,intron_variant,,ENST00000532306,;ALG8,downstream_gene_variant,,ENST00000525870,;ALG8,upstream_gene_variant,,ENST00000526849,;ALG8,downstream_gene_variant,,ENST00000527099,;ALG8,non_coding_transcript_exon_variant,,ENST00000524925,;ALG8,intron_variant,,ENST00000532552,;ALG8,3_prime_UTR_variant,,ENST00000526737,;ALG8,downstream_gene_variant,,ENST00000532050,; - ENSG00000159063 ENST00000299626 Transcript frameshift_variant 884-888/1675 812-816/1581 271-272/526 PF/X cCTTTC/c 1 -1 ALG8 HGNC HGNC:23161 protein_coding YES CCDS8258.1 ENSP00000299626 Q9BVK2 A0A024R5K5 UPI000013E5C8 NM_024079.4 8/13 hmmpanther:PTHR12413:SF2,hmmpanther:PTHR12413,Pfam_domain:PF03155 HIGH 1 deletion 1 1 PASS TTGAAAGG . . 78112731 ITGA7 . GRCh38 chr12 55688950 55688950 + Missense_Mutation SNP G G C novel 7316-942 BS_G3PJTB8B G G c.2864C>G p.Ala955Gly p.A955G ENST00000553804 22/25 72 47 25 33 31 0 ITGA7,missense_variant,p.Ala951Gly,ENST00000257879,NM_002206.2;ITGA7,missense_variant,p.Ala945Gly,ENST00000347027,;ITGA7,missense_variant,p.Ala955Gly,ENST00000553804,NM_001144996.1;ITGA7,missense_variant,p.Ala995Gly,ENST00000555728,;ITGA7,missense_variant,p.Ala858Gly,ENST00000452168,NM_001144997.1;METTL7B,downstream_gene_variant,,ENST00000394252,NM_152637.2;ITGA7,upstream_gene_variant,,ENST00000557555,;METTL7B,downstream_gene_variant,,ENST00000614691,;ITGA7,3_prime_UTR_variant,,ENST00000554327,; C ENSG00000135424 ENST00000553804 Transcript missense_variant 2883/3935 2864/3426 955/1141 A/G gCc/gGc 1 -1 ITGA7 HGNC HGNC:6143 protein_coding YES CCDS55832.1 ENSP00000452120 Q13683 UPI00003668CF NM_001144996.1 tolerated(0.43) benign(0.003) 22/25 Gene3D:2.60.40.1530,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF90,Superfamily_domains:SSF69179 MODERATE 1 SNV 1 1 PASS GGC . . 55688950 ZIC5 . GRCh38 chr13 99965756 99965756 + Missense_Mutation SNP C C A novel 7316-942 BS_G3PJTB8B C C c.1613G>T p.Arg538Leu p.R538L ENST00000267294 2/2 53 23 28 39 38 0 ZIC5,missense_variant,p.Arg538Leu,ENST00000267294,NM_033132.3; A ENSG00000139800 ENST00000267294 Transcript missense_variant 1847/4639 1613/1992 538/663 R/L cGg/cTg 1 -1 ZIC5 HGNC HGNC:20322 protein_coding YES CCDS9494.2 ENSP00000267294 Q96T25 UPI0000458928 NM_033132.3 deleterious(0.01) probably_damaging(0.996) 2/2 PROSITE_profiles:PS50157,hmmpanther:PTHR19818:SF69,hmmpanther:PTHR19818,PROSITE_patterns:PS00028,Gene3D:3.30.40.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CCG . . 99965756 STRN3 . GRCh38 chr14 30918965 30918965 + Splice_Site SNP C C A rs776004462 7316-942 BS_G3PJTB8B C C c.1240+1G>T p.X414_splice ENST00000357479 57 36 20 42 42 0 STRN3,splice_donor_variant,,ENST00000357479,NM_001083893.1;STRN3,splice_donor_variant,,ENST00000554991,;STRN3,intron_variant,,ENST00000355683,NM_014574.3;STRN3,intron_variant,,ENST00000556577,;STRN3,intron_variant,,ENST00000366206,;STRN3,intron_variant,,ENST00000555358,; A ENSG00000196792 ENST00000357479 Transcript splice_donor_variant rs776004462 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 9/17 HIGH 1 SNV 5 PASS ACC . . 3.666e-05 4.58e-05 6.81e-05 30918965 LTBP2 . GRCh38 chr14 74501557 74501557 + Missense_Mutation SNP T T A novel 7316-942 BS_G3PJTB8B T T c.5204A>T p.Glu1735Val p.E1735V ENST00000261978 35/36 67 35 31 23 22 0 LTBP2,missense_variant,p.Glu1735Val,ENST00000261978,NM_000428.2;LTBP2,missense_variant,p.Glu1691Val,ENST00000556690,;ISCA2,downstream_gene_variant,,ENST00000556816,NM_194279.3;LTBP2,missense_variant,p.Arg1765Trp,ENST00000553939,;LTBP2,non_coding_transcript_exon_variant,,ENST00000554861,;,regulatory_region_variant,,ENSR00000070731,;,regulatory_region_variant,,ENSR00000275283,; A ENSG00000119681 ENST00000261978 Transcript missense_variant 5591/8567 5204/5466 1735/1821 E/V gAg/gTg 1 -1 LTBP2 HGNC HGNC:6715 protein_coding YES CCDS9831.1 ENSP00000261978 Q14767 UPI000013D239 NM_000428.2 deleterious(0) probably_damaging(0.997) 35/36 Gene3D:2.10.25.10,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS50026,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF49,SMART_domains:SM00179,Superfamily_domains:SSF57184 MODERATE 1 SNV 1 1 PASS CTC . . 74501557 RPS6KL1 . GRCh38 chr14 74921376 74921376 + Nonsense_Mutation SNP G G A novel 7316-942 BS_G3PJTB8B G G c.166C>T p.Gln56Ter p.Q56* ENST00000354625 2/11 71 47 23 42 39 0 RPS6KL1,stop_gained,p.Gln56Ter,ENST00000354625,NM_031464.4;RPS6KL1,stop_gained,p.Gln56Ter,ENST00000555647,;RPS6KL1,stop_gained,p.Gln56Ter,ENST00000557413,;RPS6KL1,downstream_gene_variant,,ENST00000556776,;RPS6KL1,splice_region_variant,,ENST00000554900,;RPS6KL1,stop_gained,p.Gln56Ter,ENST00000555009,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000555834,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000553894,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000557383,;RPS6KL1,upstream_gene_variant,,ENST00000554834,; A ENSG00000198208 ENST00000354625 Transcript stop_gained 651/5195 166/1650 56/549 Q/* Cag/Tag 1 -1 RPS6KL1 HGNC HGNC:20222 protein_coding YES CCDS9834.2 ENSP00000346644 Q9Y6S9 UPI0000035B53 NM_031464.4 2/11 cd02677,hmmpanther:PTHR15508,hmmpanther:PTHR15508:SF4,Gene3D:1.20.58.280,Pfam_domain:PF04212,SMART_domains:SM00745,Superfamily_domains:SSF116846 HIGH 1 SNV 2 PASS TGC . . 74921376 RPS6KA5 . GRCh38 chr14 90890505 90890505 + Missense_Mutation SNP C C G novel 7316-942 BS_G3PJTB8B C C c.1818G>C p.Trp606Cys p.W606C ENST00000614987 14/17 66 29 34 50 49 0 RPS6KA5,missense_variant,p.Trp606Cys,ENST00000614987,NM_001322228.1,NM_001322233.1,NM_004755.3,NM_001322232.1,NM_001322236.1,NM_001322229.1;RPS6KA5,missense_variant,p.Trp527Cys,ENST00000536315,NM_001322238.1,NM_001322231.1,NM_001322237.1,NM_001322230.1,NM_001322234.1,NM_001322227.1,NM_001322235.1;RPS6KA5,downstream_gene_variant,,ENST00000418736,NM_182398.2;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,; G ENSG00000100784 ENST00000614987 Transcript missense_variant 1992/26795 1818/2409 606/802 W/C tgG/tgC 1 -1 RPS6KA5 HGNC HGNC:10434 protein_coding YES CCDS9893.1 ENSP00000479667 O75582 UPI0000031C30 NM_001322228.1,NM_001322233.1,NM_004755.3,NM_001322232.1,NM_001322236.1,NM_001322229.1 deleterious(0) probably_damaging(1) 14/17 Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000606,PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF115,SMART_domains:SM00220,Superfamily_domains:SSF56112,cd14179 MODERATE 1 SNV 1 PASS TCC . . 90890505 C15orf41 . GRCh38 chr15 36692156 36692156 + Missense_Mutation SNP C C A novel 7316-942 BS_G3PJTB8B C C c.457C>A p.Leu153Ile p.L153I ENST00000569302 7/11 55 31 24 54 52 0 C15orf41,missense_variant,p.Leu153Ile,ENST00000566621,NM_001321758.1,NM_001321759.1,NM_001130010.2;C15orf41,missense_variant,p.Leu153Ile,ENST00000643785,;C15orf41,missense_variant,p.Leu153Ile,ENST00000569302,NM_001321761.1;C15orf41,missense_variant,p.Leu55Ile,ENST00000567389,NM_032499.5;C15orf41,missense_variant,p.Leu153Ile,ENST00000646533,NM_001321760.1;C15orf41,missense_variant,p.Leu55Ile,ENST00000338183,NM_001321756.1;C15orf41,missense_variant,p.Leu30Ile,ENST00000643612,NM_001321757.1;C15orf41,missense_variant,p.Leu153Ile,ENST00000437989,;C15orf41,missense_variant,p.Leu153Ile,ENST00000570265,NM_001290233.1;C15orf41,missense_variant,p.Leu55Ile,ENST00000562877,NM_001290232.1;C15orf41,missense_variant,p.Leu55Ile,ENST00000566807,;C15orf41,downstream_gene_variant,,ENST00000564586,;C15orf41,upstream_gene_variant,,ENST00000565792,;C15orf41,3_prime_UTR_variant,,ENST00000642817,;C15orf41,3_prime_UTR_variant,,ENST00000646657,; A ENSG00000186073 ENST00000569302 Transcript missense_variant 673/2677 457/864 153/287 L/I Cta/Ata 1 1 C15orf41 HGNC HGNC:26929 protein_coding YES CCDS81861.1 ENSP00000456477 H3BS01 UPI00024671E4 NM_001321761.1 tolerated(0.34) benign(0.395) 7/11 Pfam_domain:PF14811,hmmpanther:PTHR31661 MODERATE 1 SNV 5 1 PASS ACT . . 36692156 NLRP1 . GRCh38 chr17 5581903 5581903 + Missense_Mutation SNP C C T novel 7316-942 BS_G3PJTB8B C C c.608G>A p.Gly203Glu p.G203E ENST00000617618 4/18 48 27 21 32 32 0 NLRP1,missense_variant,p.Gly203Glu,ENST00000571451,NM_014922.4;NLRP1,missense_variant,p.Gly203Glu,ENST00000262467,NM_001033053.2;NLRP1,missense_variant,p.Gly203Glu,ENST00000269280,;NLRP1,missense_variant,p.Gly203Glu,ENST00000617618,NM_033004.3;NLRP1,missense_variant,p.Gly203Glu,ENST00000619223,NM_033006.3;NLRP1,missense_variant,p.Gly203Glu,ENST00000345221,;NLRP1,missense_variant,p.Gly203Glu,ENST00000613500,;NLRP1,missense_variant,p.Gly203Glu,ENST00000572272,;NLRP1,missense_variant,p.Gly203Glu,ENST00000354411,;NLRP1,missense_variant,p.Gly203Glu,ENST00000577119,NM_033007.3;NLRP1,downstream_gene_variant,,ENST00000576905,;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,downstream_gene_variant,,ENST00000572143,;NLRP1,missense_variant,p.Gly203Glu,ENST00000544378,; T ENSG00000091592 ENST00000617618 Transcript missense_variant 974/4788 608/4422 203/1473 G/E gGg/gAg 1 -1 NLRP1 HGNC HGNC:14374 protein_coding YES CCDS42246.1 ENSP00000478516 Q9C000 UPI0000038309 NM_033004.3 tolerated(1) benign(0.003) 4/18 mobidb-lite,hmmpanther:PTHR24106:SF13,hmmpanther:PTHR24106 MODERATE 1 SNV 5 1 PASS CCC . . 5581903 RAI1 . GRCh38 chr17 17798114 17798114 + Missense_Mutation SNP G G C novel 7316-942 BS_G3PJTB8B G G c.5166G>C p.Lys1722Asn p.K1722N ENST00000353383 3/6 62 42 20 40 39 0 RAI1,missense_variant,p.Lys1722Asn,ENST00000353383,NM_030665.3;RAI1,missense_variant,p.Lys1610Asn,ENST00000640861,;RAI1,downstream_gene_variant,,ENST00000395774,;RAI1,downstream_gene_variant,,ENST00000471135,;RAI1,upstream_gene_variant,,ENST00000583166,; C ENSG00000108557 ENST00000353383 Transcript missense_variant 5635/7662 5166/5721 1722/1906 K/N aaG/aaC 1 1 RAI1 HGNC HGNC:9834 protein_coding YES CCDS11188.1 ENSP00000323074 Q7Z5J4 UPI0000200AAF NM_030665.3 deleterious(0.01) probably_damaging(0.942) 3/6 hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF6,cd15700,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AGG . . 17798114 NF1 . GRCh38 chr17 31235728 31235728 + Missense_Mutation SNP C C G rs199474742 7316-942 BS_G3PJTB8B C C c.3826C>G p.Arg1276Gly p.R1276G ENST00000358273 28/58 73 43 29 39 38 0 NF1,missense_variant,p.Arg1276Gly,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Arg1276Gly,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Arg942Gly,ENST00000456735,;NF1,missense_variant,p.Arg1310Gly,ENST00000579081,;NF1,missense_variant,p.Arg102Gly,ENST00000466819,;NF1,missense_variant,p.Arg102Gly,ENST00000479614,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,; G ENSG00000196712 ENST00000358273 Transcript missense_variant 4209/12425 3826/8520 1276/2839 R/G Cga/Gga rs199474742,CM040785,CM950847,COSM5055358,COSM5055357,COSM30762,COSM1177899 1 1 NF1 HGNC HGNC:7765 protein_coding YES CCDS42292.1 ENSP00000351015 P21359 UPI000012FFAE NM_001042492.2 deleterious(0) probably_damaging(1) 28/58 PROSITE_profiles:PS50018,cd05130,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF60,Gene3D:1.10.506.10,SMART_domains:SM00323,Superfamily_domains:SSF48350 uncertain_significance,not_provided,likely_pathogenic,pathogenic 0,0,0,1,1,1,1 15060124 MODERATE 1 SNV 1 1,1,1,1,1,1,1 1 PASS CCG . . 31235728 COL1A1 . GRCh38 chr17 50187543 50187543 + Splice_Region SNP G G T novel 7316-942 BS_G3PJTB8B G G c.3370-6C>A ENST00000225964 47 28 19 23 23 0 COL1A1,splice_region_variant,,ENST00000225964,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000486572,;COL1A1,downstream_gene_variant,,ENST00000494334,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,downstream_gene_variant,,ENST00000511732,;,regulatory_region_variant,,ENSR00000095623,; T ENSG00000108821 ENST00000225964 Transcript splice_region_variant,intron_variant 1 -1 COL1A1 HGNC HGNC:2197 protein_coding YES CCDS11561.1 ENSP00000225964 P02452 UPI0000DACAC3 45/50 LOW 1 SNV 1 1 PASS AGG . . 50187543 ABCA9 . GRCh38 chr17 69033777 69033777 + Missense_Mutation SNP C C G novel 7316-942 BS_G3PJTB8B C C c.1225G>C p.Asp409His p.D409H ENST00000340001 9/39 68 52 14 46 45 0 ABCA9,missense_variant,p.Asp409His,ENST00000340001,NM_080283.3;ABCA9,missense_variant,p.Asp409His,ENST00000453985,;ABCA9-AS1,intron_variant,,ENST00000627453,;ABCA9-AS1,intron_variant,,ENST00000629311,;ABCA9,non_coding_transcript_exon_variant,,ENST00000461623,; G ENSG00000154258 ENST00000340001 Transcript missense_variant 1437/6514 1225/4875 409/1624 D/H Gac/Cac 1 -1 ABCA9 HGNC HGNC:39 protein_coding YES CCDS11681.1 ENSP00000342216 Q8IUA7 UPI00000747B1 NM_080283.3 deleterious(0) probably_damaging(0.954) 9/39 Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF120,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS TCA . . 69033777 RECQL5 . GRCh38 chr17 75630844 75630844 + Splice_Region SNP G G T rs113150921 7316-942 BS_G3PJTB8B G G c.1586-7C>A ENST00000317905 77 56 6 42 29 0 RECQL5,splice_region_variant,,ENST00000317905,NM_004259.6;RECQL5,splice_region_variant,,ENST00000423245,;RECQL5,splice_region_variant,,ENST00000580707,;SMIM5,upstream_gene_variant,,ENST00000375215,NM_001162995.2;RECQL5,downstream_gene_variant,,ENST00000578201,;RECQL5,upstream_gene_variant,,ENST00000581825,;RECQL5,upstream_gene_variant,,ENST00000582548,;MYO15B,downstream_gene_variant,,ENST00000610510,NM_001309242.1;MYO15B,downstream_gene_variant,,ENST00000633867,;MYO15B,downstream_gene_variant,,ENST00000642007,;RECQL5,splice_region_variant,,ENST00000443199,;SMIM5,upstream_gene_variant,,ENST00000581115,;RECQL5,downstream_gene_variant,,ENST00000583673,;RECQL5,upstream_gene_variant,,ENST00000578865,;RECQL5,upstream_gene_variant,,ENST00000579265,;MYO15B,downstream_gene_variant,,ENST00000580262,;MYO15B,downstream_gene_variant,,ENST00000580414,;RECQL5,downstream_gene_variant,,ENST00000582464,;RECQL5,upstream_gene_variant,,ENST00000585205,;MYO15B,downstream_gene_variant,,ENST00000612587,;MYO15B,downstream_gene_variant,,ENST00000621743,; T ENSG00000108469 ENST00000317905 Transcript splice_region_variant,intron_variant rs113150921,COSM5484156,COSM5484155 1 -1 RECQL5 HGNC HGNC:9950 protein_coding YES CCDS42380.1 ENSP00000317636 O94762 A0A024R8M9 UPI0000133477 NM_004259.6 11/19 0,1,1 LOW 1 SNV 1 0,1,1 PASS GGG . . 0.3105 0.2807 0.2709 0.2178 0.3408 0.3289 0.3425 0.3017 0.2852 75630844 EMILIN2 . GRCh38 chr18 2909744 2909760 + Frame_Shift_Del DEL TTCCCCAGTGATGGGGG TTCCCCAGTGATGGGGG - novel 7316-942 BS_G3PJTB8B TTCCCCAGTGATGGGGG TTCCCCAGTGATGGGGG c.2749_2765del p.Phe917ArgfsTer5 p.F917Rfs*5 ENST00000254528 7/8 82 51 27 45 45 0 EMILIN2,frameshift_variant,p.Phe917ArgfsTer5,ENST00000254528,NM_032048.2;EMILIN2,non_coding_transcript_exon_variant,,ENST00000308080,;EMILIN2,non_coding_transcript_exon_variant,,ENST00000583776,; - ENSG00000132205 ENST00000254528 Transcript frameshift_variant 2908-2924/5910 2749-2765/3162 917-922/1053 FPSDGG/X TTCCCCAGTGATGGGGGc/c 1 1 EMILIN2 HGNC HGNC:19881 protein_coding YES CCDS11828.1 ENSP00000254528 Q9BXX0 UPI000013CE3E NM_032048.2 7/8 PROSITE_profiles:PS50871,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842 HIGH 1 deletion 1 PASS CTTTCCCCAGTGATGGGGGC . . 2909743 SMAD2 . GRCh38 chr18 47896808 47896808 + Splice_Region SNP A A C novel 7316-942 BS_G3PJTB8B A A c.-52T>G ENST00000262160 2/11 80 52 26 46 46 0 SMAD2,splice_region_variant,,ENST00000262160,NM_005901.5;SMAD2,splice_region_variant,,ENST00000402690,NM_001003652.3;SMAD2,splice_region_variant,,ENST00000356825,NM_001135937.2;SMAD2,splice_region_variant,,ENST00000591214,;SMAD2,splice_region_variant,,ENST00000587269,;SMAD2,splice_region_variant,,ENST00000586514,;SMAD2,splice_region_variant,,ENST00000585978,;SMAD2,splice_region_variant,,ENST00000587421,;SMAD2,splice_region_variant,,ENST00000589877,;SMAD2,5_prime_UTR_variant,,ENST00000586040,;SMAD2,upstream_gene_variant,,ENST00000586487,; C ENSG00000175387 ENST00000262160 Transcript splice_region_variant,5_prime_UTR_variant 201/34526 1 -1 SMAD2 HGNC HGNC:6768 protein_coding YES CCDS11934.1 ENSP00000262160 Q15796 Q53XR6 UPI0000032EE7 NM_005901.5 2/11 LOW 1 SNV 1 1 PASS AAC . . 47896808 RAB27B . GRCh38 chr18 54884384 54884384 + Frame_Shift_Del DEL A A - novel 7316-942 BS_G3PJTB8B A A c.292del p.Met98CysfsTer11 p.M98Cfs*11 ENST00000262094 4/6 103 57 38 47 47 0 RAB27B,frameshift_variant,p.Met98CysfsTer11,ENST00000262094,NM_004163.4;RAB27B,frameshift_variant,p.Met11CysfsTer11,ENST00000592334,;RAB27B,downstream_gene_variant,,ENST00000586570,;AC007673.1,downstream_gene_variant,,ENST00000590604,;AC098848.1,downstream_gene_variant,,ENST00000588466,;RAB27B,intron_variant,,ENST00000586594,;,regulatory_region_variant,,ENSR00000103480,; - ENSG00000041353 ENST00000262094 Transcript frameshift_variant 812/7281 291/657 97/218 L/X ttA/tt 1 1 RAB27B HGNC HGNC:9767 protein_coding YES CCDS11958.1 ENSP00000262094 O00194 UPI0000001268 NM_004163.4 4/6 PDB-ENSP_mappings:2f7s.A,PDB-ENSP_mappings:2f7s.B,PROSITE_profiles:PS51419,cd04127,hmmpanther:PTHR24073:SF511,hmmpanther:PTHR24073,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540 HIGH 1 deletion 1 1 PASS TTAA . . 54884383 SHC2 . GRCh38 chr19 436687 436687 + Splice_Region SNP T T C rs778025680 7316-942 BS_G3PJTB8B T T c.721-4A>G ENST00000264554 100 90 6 38 36 0 SHC2,splice_region_variant,,ENST00000264554,NM_012435.2;SHC2,splice_region_variant,,ENST00000590113,;SHC2,splice_region_variant,,ENST00000590222,;SHC2,upstream_gene_variant,,ENST00000590170,; C ENSG00000129946 ENST00000264554 Transcript splice_region_variant,intron_variant rs778025680 1 -1 SHC2 HGNC HGNC:29869 protein_coding YES CCDS45891.1 ENSP00000264554 P98077 UPI0000DD84C2 NM_012435.2 4/12 LOW 1 SNV 1 PASS GTG . . 4.317e-06 9.28e-06 436687 KIR3DL3 . GRCh38 chr19 54727757 54727757 + Missense_Mutation SNP G G A rs270790 7316-942 BS_G3PJTB8B G G c.502G>A p.Val168Ile p.V168I ENST00000291860 4/8 57 38 18 19 17 1 KIR3DL3,missense_variant,p.Val168Ile,ENST00000291860,NM_153443.4;AC245128.1,intron_variant,,ENST00000400864,; A ENSG00000242019 ENST00000291860 Transcript missense_variant 520/1691 502/1233 168/410 V/I Gtt/Att rs270790,COSM1396341 1 1 KIR3DL3 HGNC HGNC:16312 protein_coding YES CCDS12903.1 ENSP00000291860 A0A0B4J1R5 UPI00005056C3 NM_153443.4 tolerated(0.21) benign(0) 4/8 Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF127,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05711 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 54727757 SRC . GRCh38 chr20 37402582 37402582 + Missense_Mutation SNP C C T rs1459444714 7316-942 BS_G3PJTB8B C C c.1264C>T p.Arg422Trp p.R422W ENST00000373578 12/14 87 64 20 25 25 0 SRC,missense_variant,p.Arg422Trp,ENST00000373578,;SRC,missense_variant,p.Arg422Trp,ENST00000373567,;SRC,missense_variant,p.Arg428Trp,ENST00000373558,;SRC,missense_variant,p.Arg422Trp,ENST00000358208,;SRC,non_coding_transcript_exon_variant,,ENST00000477066,;SRC,non_coding_transcript_exon_variant,,ENST00000493775,;SRC,downstream_gene_variant,,ENST00000477475,;SRC,downstream_gene_variant,,ENST00000489153,;SRC,downstream_gene_variant,,ENST00000467556,; T ENSG00000197122 ENST00000373578 Transcript missense_variant 1612/4630 1264/1611 422/536 R/W Cgg/Tgg rs1459444714 1 1 SRC HGNC HGNC:11283 protein_coding YES CCDS13294.1 ENSP00000362680 P12931 UPI0000000CB3 deleterious(0) probably_damaging(0.998) 12/14 cd05071,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF53 MODERATE 1 SNV 5 1 PASS GCG . . 37402582 SYNJ1 . GRCh38 chr21 32656851 32656864 + Frame_Shift_Del DEL CTCTTCAGCTTCAA CTCTTCAGCTTCAA - novel 7316-942 BS_G3PJTB8B CTCTTCAGCTTCAA CTCTTCAGCTTCAA c.2735_2748del p.Val912GlufsTer6 p.V912Efs*6 ENST00000433931 21/32 100 77 23 44 44 0 SYNJ1,frameshift_variant,p.Val912GlufsTer6,ENST00000382499,NM_203446.2;SYNJ1,frameshift_variant,p.Val873GlufsTer6,ENST00000357345,NM_001160302.1;SYNJ1,frameshift_variant,p.Val868GlufsTer6,ENST00000382491,;SYNJ1,frameshift_variant,p.Val868GlufsTer6,ENST00000630077,NM_001160306.1;SYNJ1,frameshift_variant,p.Val912GlufsTer6,ENST00000433931,NM_003895.3;SYNJ1,non_coding_transcript_exon_variant,,ENST00000464778,;SYNJ1,upstream_gene_variant,,ENST00000467445,; - ENSG00000159082 ENST00000433931 Transcript frameshift_variant 2743-2756/4852 2735-2748/4839 912-916/1612 VEAEE/X gTTGAAGCTGAAGAG/g 1 -1 SYNJ1 HGNC HGNC:11503 protein_coding YES CCDS33539.2 ENSP00000409667 J3KQV8 UPI0001A47572 NM_003895.3 21/32 Gene3D:3.60.10.10,Pfam_domain:PF08952,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF158,SMART_domains:SM00128,SMART_domains:SM01165,Superfamily_domains:SSF56219 HIGH 1 deletion 1 1 PASS CTCTCTTCAGCTTCAAC . . 32656850 DEPDC5 . GRCh38 chr22 31778098 31778098 + Splice_Site SNP G G A novel 7316-942 BS_G3PJTB8B G G c.414-1G>A p.X138_splice ENST00000400246 53 23 29 54 54 0 DEPDC5,splice_acceptor_variant,,ENST00000382111,;DEPDC5,splice_acceptor_variant,,ENST00000382112,;DEPDC5,splice_acceptor_variant,,ENST00000400242,NM_001007188.2;DEPDC5,splice_acceptor_variant,,ENST00000400246,NM_001242896.1;DEPDC5,splice_acceptor_variant,,ENST00000400248,NM_014662.4;DEPDC5,splice_acceptor_variant,,ENST00000400249,;DEPDC5,splice_acceptor_variant,,ENST00000433147,;DEPDC5,splice_acceptor_variant,,ENST00000437411,;DEPDC5,splice_acceptor_variant,,ENST00000456178,;DEPDC5,splice_acceptor_variant,,ENST00000458532,;DEPDC5,splice_acceptor_variant,,ENST00000535622,NM_001242897.1;DEPDC5,splice_acceptor_variant,,ENST00000642696,;DEPDC5,splice_acceptor_variant,,ENST00000642974,;DEPDC5,splice_acceptor_variant,,ENST00000644331,;DEPDC5,splice_acceptor_variant,,ENST00000645015,;DEPDC5,splice_acceptor_variant,,ENST00000645407,;DEPDC5,splice_acceptor_variant,,ENST00000645560,;DEPDC5,splice_acceptor_variant,,ENST00000645564,;DEPDC5,splice_acceptor_variant,,ENST00000645693,;DEPDC5,splice_acceptor_variant,,ENST00000645711,NM_001136029.2;DEPDC5,splice_acceptor_variant,,ENST00000646465,;Z82190.2,splice_acceptor_variant,,ENST00000646701,;DEPDC5,splice_acceptor_variant,,ENST00000646755,;DEPDC5,splice_acceptor_variant,,ENST00000646969,;DEPDC5,splice_acceptor_variant,,ENST00000647343,;DEPDC5,splice_acceptor_variant,,ENST00000647438,;DEPDC5,splice_acceptor_variant,,ENST00000469974,;DEPDC5,splice_acceptor_variant,,ENST00000642551,;DEPDC5,splice_acceptor_variant,,ENST00000642684,;DEPDC5,splice_acceptor_variant,,ENST00000642771,;DEPDC5,splice_acceptor_variant,,ENST00000643166,;DEPDC5,splice_acceptor_variant,,ENST00000643395,;DEPDC5,splice_acceptor_variant,,ENST00000643751,;DEPDC5,splice_acceptor_variant,,ENST00000644162,;DEPDC5,splice_acceptor_variant,,ENST00000645494,;DEPDC5,splice_acceptor_variant,,ENST00000645755,;DEPDC5,splice_acceptor_variant,,ENST00000645785,;DEPDC5,splice_acceptor_variant,,ENST00000646515,;DEPDC5,splice_acceptor_variant,,ENST00000646998,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000642605,;DEPDC5,intron_variant,,ENST00000645967,; A ENSG00000100150 ENST00000400246 Transcript splice_acceptor_variant 1 1 DEPDC5 HGNC HGNC:18423 protein_coding YES CCDS74849.1 ENSP00000383105 O75140 UPI000192C426 NM_001242896.1 7/42 HIGH 1 SNV 1 1 PASS AGA . . 31778098 VCX3B . GRCh38 chrX 8464991 8464991 + Splice_Site SNP G G A rs28592630 7316-942 BS_G3PJTB8B G G c.-147+1G>A ENST00000381032 38 23 15 27 25 1 VCX3B,splice_donor_variant,,ENST00000444481,;VCX3B,splice_donor_variant,,ENST00000381032,NM_001001888.3;VCX3B,splice_donor_variant,,ENST00000453306,;VCX3B,upstream_gene_variant,,ENST00000381029,;,regulatory_region_variant,,ENSR00000339596,; A ENSG00000205642 ENST00000381032 Transcript splice_donor_variant rs28592630 1 1 VCX3B HGNC HGNC:31838 protein_coding YES CCDS48077.2 ENSP00000370420 Q9H321 UPI000057A469 NM_001001888.3 1/2 0.4034 0.7188 0.2004 0.4948 0.2245 0.2047 HIGH 1 SNV 5 PASS GGT . . 8464991 GSPT2 . GRCh38 chrX 51744629 51744654 + Frame_Shift_Del DEL TTGGCAAAAACGGCAGGGGTAAAACA TTGGCAAAAACGGCAGGGGTAAAACA - novel 7316-942 BS_G3PJTB8B TTGGCAAAAACGGCAGGGGTAAAACA TTGGCAAAAACGGCAGGGGTAAAACA c.1005_1030del p.Leu335PhefsTer6 p.L335Ffs*6 ENST00000340438 1/1 69 54 15 34 34 0 GSPT2,frameshift_variant,p.Leu335PhefsTer6,ENST00000340438,NM_018094.4;,regulatory_region_variant,,ENSR00000246630,; - ENSG00000189369 ENST00000340438 Transcript frameshift_variant 1199-1224/2802 1003-1028/1887 335-343/628 LAKTAGVKH/X TTGGCAAAAACGGCAGGGGTAAAACAt/t 1 1 GSPT2 HGNC HGNC:4622 protein_coding YES CCDS14336.1 ENSP00000341247 Q8IYD1 UPI0000073899 NM_018094.4 1/1 PROSITE_profiles:PS51722,cd01883,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF119,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540 HIGH 1 deletion 2 1 PASS TGTTGGCAAAAACGGCAGGGGTAAAACAT . . 51744628 SPANXA2-OT1 . GRCh38 chrX 141514831 141514831 + Splice_Site SNP T T C novel 7316-942 BS_G3PJTB8B T T n.509+2T>C ENST00000622372 58 28 28 45 43 0 SPANXA2-OT1,splice_donor_variant,,ENST00000622372,; C ENSG00000277215 ENST00000622372 Transcript splice_donor_variant,non_coding_transcript_variant 1 1 SPANXA2-OT1 HGNC HGNC:31683 lincRNA YES 2/3 HIGH 1 SNV 2 PASS GTG . . 141514831 PRAMEF1 . GRCh38 chr1 12795938 12795938 + Missense_Mutation SNP C C T rs141070565 7316-2751 BS_RB3PE7G3 C C c.1367C>T p.Pro456Leu p.P456L ENST00000332296 4/4 69 54 14 39 39 0 PRAMEF1,missense_variant,p.Pro456Leu,ENST00000332296,NM_023013.4;PRAMEF1,non_coding_transcript_exon_variant,,ENST00000400814,NM_001294139.1; T ENSG00000116721 ENST00000332296 Transcript missense_variant 1470/2160 1367/1425 456/474 P/L cCc/cTc rs141070565,COSM4386566,COSM224633,COSM224632 1 1 PRAMEF1 HGNC HGNC:28840 protein_coding YES CCDS148.1 ENSP00000332134 O95521 UPI0004620BB8 NM_023013.4 deleterious(0.04) probably_damaging(0.999) 4/4 PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2,Low_complexity_(Seg):seg 0.03498 0.03354 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS CCC . . 0.01819 0.01172 0.01015 0.01903 0.01101 0.03009 0.02154 0.01631 0.01488 12795938 SLC9A1 . GRCh38 chr1 27100332 27100332 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.2423A>G p.Glu808Gly p.E808G ENST00000263980 12/12 52 42 10 32 30 1 SLC9A1,missense_variant,p.Glu808Gly,ENST00000263980,NM_003047.4;SLC9A1,upstream_gene_variant,,ENST00000490329,;SLC9A1,non_coding_transcript_exon_variant,,ENST00000374089,;SLC9A1,downstream_gene_variant,,ENST00000447808,;,regulatory_region_variant,,ENSR00000003668,; C ENSG00000090020 ENST00000263980 Transcript missense_variant 2999/4516 2423/2448 808/815 E/G gAa/gGa 1 -1 SLC9A1 HGNC HGNC:11071 protein_coding YES CCDS295.1 ENSP00000263980 P19634 UPI000012FD1B NM_003047.4 tolerated_low_confidence(0.08) benign(0.202) 12/12 Prints_domain:PR01085,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS TTC . . 27100332 IL23R . GRCh38 chr1 67258587 67258587 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.1349A>G p.Tyr450Cys p.Y450C ENST00000347310 11/11 60 44 16 37 36 0 IL23R,missense_variant,p.Tyr450Cys,ENST00000347310,NM_144701.2;IL23R,missense_variant,p.Tyr247Cys,ENST00000637002,;IL23R,missense_variant,p.Tyr48Cys,ENST00000395227,;IL23R,missense_variant,p.Tyr195Cys,ENST00000425614,;IL23R,3_prime_UTR_variant,,ENST00000473881,; G ENSG00000162594 ENST00000347310 Transcript missense_variant 1520/2912 1349/1890 450/629 Y/C tAc/tGc 1 1 IL23R HGNC HGNC:19100 protein_coding YES CCDS637.1 ENSP00000321345 Q5VWK5 UPI000004CACD NM_144701.2 tolerated(0.15) benign(0.003) 11/11 hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF112 MODERATE 1 SNV 1 1 PASS TAC . . 67258587 NBPF9 . GRCh38 chr1 149075708 149075708 + Missense_Mutation SNP T T C rs9442124 7316-2751 BS_RB3PE7G3 T T c.935A>G p.Lys312Arg p.K312R ENST00000615421 11/29 74 57 15 43 42 1 NBPF9,missense_variant,p.Lys312Arg,ENST00000615421,;NBPF9,missense_variant,p.Lys312Arg,ENST00000621645,;NBPF9,missense_variant,p.Lys312Arg,ENST00000584027,NM_001277444.1;NBPF9,missense_variant,p.Lys312Arg,ENST00000613969,;NBPF9,missense_variant,p.Lys312Arg,ENST00000613595,NM_001037675.3;NBPF9,missense_variant,p.Lys312Arg,ENST00000621074,;NBPF9,missense_variant,p.Lys312Arg,ENST00000610300,;NBPF9,missense_variant,p.Lys41Arg,ENST00000483630,;,regulatory_region_variant,,ENSR00000013304,; C ENSG00000269713 ENST00000615421 Transcript missense_variant 1805/5835 935/3336 312/1111 K/R aAa/aGa rs9442124 1 -1 NBPF9 HGNC HGNC:31991 protein_coding YES CCDS72896.1 ENSP00000477979 P0DPF3 UPI000292EE30 deleterious(0.02) benign(0.027) 11/29 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14199:SF28,hmmpanther:PTHR14199 MODERATE 1 SNV 5 PASS TTT . . 149075708 HMCN1 . GRCh38 chr1 186145782 186145782 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.14467T>C p.Trp4823Arg p.W4823R ENST00000271588 93/107 67 48 19 39 37 0 HMCN1,missense_variant,p.Trp4823Arg,ENST00000271588,NM_031935.2; C ENSG00000143341 ENST00000271588 Transcript missense_variant 14696/18208 14467/16908 4823/5635 W/R Tgg/Cgg 1 1 HMCN1 HGNC HGNC:19194 protein_coding YES CCDS30956.1 ENSP00000271588 Q96RW7 UPI0000458C0E NM_031935.2 deleterious(0) probably_damaging(1) 93/107 Gene3D:2.40.155.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR44338,hmmpanther:PTHR44338:SF3,SMART_domains:SM00209,Superfamily_domains:SSF82895 MODERATE 1 SNV 1 1 PASS TTG . . 186145782 LGR6 . GRCh38 chr1 202318581 202318581 + Missense_Mutation SNP C C T rs754427956 7316-2751 BS_RB3PE7G3 C C c.2278C>T p.Arg760Trp p.R760W ENST00000367278 18/18 59 45 12 28 27 0 LGR6,missense_variant,p.Arg760Trp,ENST00000367278,NM_001017403.1;LGR6,missense_variant,p.Arg708Trp,ENST00000255432,NM_021636.2;LGR6,missense_variant,p.Arg621Trp,ENST00000439764,NM_001017404.1;LGR6,3_prime_UTR_variant,,ENST00000487787,; T ENSG00000133067 ENST00000367278 Transcript missense_variant 2367/3567 2278/2904 760/967 R/W Cgg/Tgg rs754427956 1 1 LGR6 HGNC HGNC:19719 protein_coding YES CCDS30971.1 ENSP00000356247 Q9HBX8 UPI0000161221 NM_001017403.1 deleterious(0) probably_damaging(0.932) 18/18 Gene3D:1.20.1070.10,hmmpanther:PTHR44052,hmmpanther:PTHR44052:SF2,Superfamily_domains:SSF81321,cd15362 MODERATE 1 SNV 1 PASS GCG . . 4.065e-06 4.507e-05 202318581 FBXO28 . GRCh38 chr1 224114377 224114377 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.248A>G p.Glu83Gly p.E83G ENST00000366862 1/5 65 48 14 44 44 0 FBXO28,missense_variant,p.Glu83Gly,ENST00000366862,NM_015176.3;FBXO28,missense_variant,p.Glu83Gly,ENST00000424254,NM_001136115.2;FBXO28,missense_variant,p.Glu83Gly,ENST00000523990,;FBXO28,non_coding_transcript_exon_variant,,ENST00000519894,;FBXO28,non_coding_transcript_exon_variant,,ENST00000483773,;,regulatory_region_variant,,ENSR00000020839,; G ENSG00000143756 ENST00000366862 Transcript missense_variant 291/5451 248/1107 83/368 E/G gAa/gGa 1 1 FBXO28 HGNC HGNC:29046 protein_coding YES CCDS1539.1 ENSP00000355827 Q9NVF7 A0A024R3Q6 UPI000006F1C1 NM_015176.3 deleterious(0.02) probably_damaging(0.992) 1/5 Pfam_domain:PF00646,PROSITE_profiles:PS50181,hmmpanther:PTHR13252,hmmpanther:PTHR13252:SF9,Superfamily_domains:SSF81383 MODERATE 1 SNV 1 PASS GAA . . 224114377 CLIP4 . GRCh38 chr2 29152739 29152739 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.1076T>C p.Ile359Thr p.I359T ENST00000320081 9/16 84 57 24 40 40 0 CLIP4,missense_variant,p.Ile359Thr,ENST00000320081,NM_024692.5,NM_001287527.1;CLIP4,missense_variant,p.Ile359Thr,ENST00000404424,;CLIP4,missense_variant,p.Ile359Thr,ENST00000401605,NM_001287528.1;CLIP4,missense_variant,p.Ile252Thr,ENST00000401617,;CLIP4,missense_variant,p.Ile359Thr,ENST00000415891,;CLIP4,3_prime_UTR_variant,,ENST00000456385,; C ENSG00000115295 ENST00000320081 Transcript missense_variant 1331/4293 1076/2118 359/705 I/T aTa/aCa 1 1 CLIP4 HGNC HGNC:26108 protein_coding YES CCDS1770.1 ENSP00000327009 Q8N3C7 UPI000006F0E8 NM_024692.5,NM_001287527.1 tolerated(0.49) benign(0) 9/16 hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF32,Gene3D:2.30.30.190,Superfamily_domains:SSF74924 MODERATE 1 SNV 1 PASS ATA . . 29152739 AC011247.1 . GRCh38 chr2 38482959 38482959 + Splice_Region SNP A A G novel 7316-2751 BS_RB3PE7G3 A A n.696T>C ENST00000417039 3/5 76 63 12 34 33 0 AC011247.1,splice_region_variant,,ENST00000417039,;AC011247.1,splice_region_variant,,ENST00000421463,;RPLP0P6,downstream_gene_variant,,ENST00000394878,; G ENSG00000231367 ENST00000417039 Transcript splice_region_variant,non_coding_transcript_exon_variant 696/1156 1 -1 AC011247.1 Clone_based_ensembl_gene lincRNA YES 3/5 LOW 1 SNV 5 PASS CAC . . 38482959 MTA3 . GRCh38 chr2 42682585 42682585 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.887A>G p.Asp296Gly p.D296G ENST00000405094 9/17 85 67 17 36 35 0 MTA3,missense_variant,p.Asp240Gly,ENST00000405592,NM_001282755.1;MTA3,missense_variant,p.Asp240Gly,ENST00000406652,NM_001282756.1,NM_001330442.1,NM_001330443.1;MTA3,missense_variant,p.Asp296Gly,ENST00000407270,NM_020744.3;MTA3,missense_variant,p.Asp296Gly,ENST00000406911,;MTA3,missense_variant,p.Asp296Gly,ENST00000405094,;MTA3,missense_variant,p.Asp296Gly,ENST00000409019,;MTA3,missense_variant,p.Asp296Gly,ENST00000454356,;MTA3,non_coding_transcript_exon_variant,,ENST00000490611,;AC074375.1,upstream_gene_variant,,ENST00000372993,; G ENSG00000057935 ENST00000405094 Transcript missense_variant 887/1785 887/1785 296/594 D/G gAt/gGt 1 1 MTA3 HGNC HGNC:23784 protein_coding YES CCDS82441.1 ENSP00000385823 Q9BTC8 UPI000012F745 deleterious(0) benign(0.214) 9/17 PROSITE_profiles:PS51293,cd11661,hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF6,Gene3D:1.10.10.60,SMART_domains:SM00717,Superfamily_domains:SSF46689 MODERATE 1 SNV 5 PASS GAT . . 42682585 CCDC88A . GRCh38 chr2 55296395 55296395 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.4951T>C p.Ser1651Pro p.S1651P ENST00000336838 30/33 45 33 12 49 48 0 CCDC88A,missense_variant,p.Ser1652Pro,ENST00000436346,;CCDC88A,missense_variant,p.Ser1624Pro,ENST00000263630,NM_018084.4;CCDC88A,missense_variant,p.Ser1652Pro,ENST00000413716,;CCDC88A,missense_variant,p.Ser1651Pro,ENST00000336838,NM_001135597.1;CCDC88A,missense_variant,p.Ser1623Pro,ENST00000643413,;CCDC88A,missense_variant,p.Ser1385Pro,ENST00000647401,;CCDC88A,missense_variant,p.Ser1652Pro,ENST00000642200,;CCDC88A,missense_variant,p.Ser916Pro,ENST00000647396,;CCDC88A,missense_variant,p.Ser889Pro,ENST00000642563,;CCDC88A,missense_variant,p.Ser1651Pro,ENST00000646796,NM_001254943.1;CCDC88A,missense_variant,p.Ser794Pro,ENST00000644512,;CCDC88A,missense_variant,p.Ser785Pro,ENST00000643375,;CCDC88A,missense_variant,p.Ser827Pro,ENST00000426576,;CCDC88A,missense_variant,p.Ser155Pro,ENST00000444458,;CCDC88A,missense_variant,p.Ser894Pro,ENST00000645860,;CCDC88A,missense_variant,p.Ser669Pro,ENST00000412148,;CCDC88A,missense_variant,p.Ser489Pro,ENST00000647291,;CCDC88A,missense_variant,p.Ser605Pro,ENST00000456975,;CCDC88A,missense_variant,p.Ser21Pro,ENST00000647547,;CCDC88A,missense_variant,p.Ser101Pro,ENST00000643440,;AC012358.3,intron_variant,,ENST00000625718,;CCDC88A,3_prime_UTR_variant,,ENST00000643265,;CCDC88A,3_prime_UTR_variant,,ENST00000645311,;CCDC88A,3_prime_UTR_variant,,ENST00000646285,;CCDC88A,3_prime_UTR_variant,,ENST00000644415,;CCDC88A,3_prime_UTR_variant,,ENST00000644825,;CCDC88A,non_coding_transcript_exon_variant,,ENST00000645969,;CCDC88A,non_coding_transcript_exon_variant,,ENST00000643873,;CCDC88A,non_coding_transcript_exon_variant,,ENST00000644456,;CCDC88A,non_coding_transcript_exon_variant,,ENST00000645450,;CCDC88A,non_coding_transcript_exon_variant,,ENST00000643103,;CCDC88A,upstream_gene_variant,,ENST00000644809,;,regulatory_region_variant,,ENSR00000117341,; G ENSG00000115355 ENST00000336838 Transcript missense_variant 5485/9505 4951/5613 1651/1870 S/P Tca/Cca 1 -1 CCDC88A HGNC HGNC:25523 protein_coding YES CCDS46288.1 ENSP00000338728 Q3V6T2 UPI00005B7220 NM_001135597.1 tolerated(0.23) possibly_damaging(0.624) 30/33 MODERATE 1 SNV 1 1 PASS GAT . . 55296395 TET3 . GRCh38 chr2 74046998 74046998 + Missense_Mutation SNP G G A novel 7316-2751 BS_RB3PE7G3 G G c.1081G>A p.Glu361Lys p.E361K ENST00000409262 3/11 55 41 14 33 33 0 TET3,missense_variant,p.Glu361Lys,ENST00000409262,NM_001287491.1;TET3,missense_variant,p.Glu268Lys,ENST00000305799,;TET3,upstream_gene_variant,,ENST00000475405,; A ENSG00000187605 ENST00000409262 Transcript missense_variant 1081/11388 1081/5388 361/1795 E/K Gag/Aag 1 1 TET3 HGNC HGNC:28313 protein_coding YES CCDS46339.2 ENSP00000386869 O43151 UPI0002A87FCB NM_001287491.1 deleterious(0) probably_damaging(0.999) 3/11 MODERATE 1 SNV 1 PASS TGA . . 74046998 ABI2 . GRCh38 chr2 203394800 203394800 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.679A>G p.Ser227Gly p.S227G ENST00000295851 6/11 81 64 16 42 42 0 ABI2,missense_variant,p.Ser227Gly,ENST00000295851,;ABI2,missense_variant,p.Ser227Gly,ENST00000261018,NM_001282925.1;ABI2,missense_variant,p.Ser165Gly,ENST00000261016,NM_001282927.1,NM_001282932.1;ABI2,missense_variant,p.Ser221Gly,ENST00000261017,NM_005759.5;ABI2,missense_variant,p.Ser227Gly,ENST00000422511,;ABI2,missense_variant,p.Ser221Gly,ENST00000424558,NM_001282926.1;ABI2,missense_variant,p.Ser227Gly,ENST00000417864,;ABI2,missense_variant,p.Ser68Gly,ENST00000454023,;ABI2,missense_variant,p.Ser93Gly,ENST00000451591,;RAPH1,3_prime_UTR_variant,,ENST00000457812,;ABI2,intron_variant,,ENST00000430418,;ABI2,non_coding_transcript_exon_variant,,ENST00000430574,;ABI2,non_coding_transcript_exon_variant,,ENST00000416396,;ABI2,intron_variant,,ENST00000411547,;ABI2,intron_variant,,ENST00000422719,;ABI2,3_prime_UTR_variant,,ENST00000441061,;ABI2,intron_variant,,ENST00000416001,; G ENSG00000138443 ENST00000295851 Transcript missense_variant 975/22209 679/1542 227/513 S/G Agc/Ggc 1 1 ABI2 HGNC HGNC:24011 protein_coding YES CCDS63093.1 ENSP00000295851 F8WAL6 UPI000013D12C tolerated(0.06) probably_damaging(0.943) 6/11 mobidb-lite,hmmpanther:PTHR10460:SF0,hmmpanther:PTHR10460 MODERATE 1 SNV 1 PASS GAG . . 203394800 CPS1 . GRCh38 chr2 210639181 210639181 + Missense_Mutation SNP T T C 7316-2751 BS_RB3PE7G3 T T c.2879T>C p.Val960Ala p.V960A ENST00000430249 24/39 85 69 16 34 34 0 CPS1,missense_variant,p.Val954Ala,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Val960Ala,ENST00000430249,NM_001122633.2;CPS1,missense_variant,p.Val503Ala,ENST00000451903,NM_001122634.3;CPS1,non_coding_transcript_exon_variant,,ENST00000497121,; C ENSG00000021826 ENST00000430249 Transcript missense_variant 2934/5698 2879/4521 960/1506 V/A gTa/gCa COSM4656657,COSM4656656 1 1 CPS1 HGNC HGNC:2323 protein_coding YES CCDS46505.1 ENSP00000402608 P31327 UPI000166C19F NM_001122633.2 tolerated(0.51) benign(0.005) 24/39 TIGRFAM_domain:TIGR01369,Gene3D:3.40.50.20,Pfam_domain:PF02787,SMART_domains:SM01096,Superfamily_domains:SSF48108,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF38 1,1 MODERATE 1 SNV 1 1,1 1 PASS GTA . . 210639181 HDAC4 . GRCh38 chr2 239126541 239126541 + Frame_Shift_Del DEL T T - novel 7316-2751 BS_RB3PE7G3 T T c.1433del p.Gln478ArgfsTer27 p.Q478Rfs*27 ENST00000345617 12/27 61 39 19 40 40 0 HDAC4,frameshift_variant,p.Gln366ArgfsTer27,ENST00000543185,;HDAC4,frameshift_variant,p.Gln478ArgfsTer27,ENST00000345617,NM_006037.3;HDAC4,non_coding_transcript_exon_variant,,ENST00000493582,;HDAC4,non_coding_transcript_exon_variant,,ENST00000463007,;HDAC4,non_coding_transcript_exon_variant,,ENST00000535493,;HDAC4,downstream_gene_variant,,ENST00000461113,; - ENSG00000068024 ENST00000345617 Transcript frameshift_variant 2225/8976 1433/3255 478/1084 Q/X cAg/cg 1 -1 HDAC4 HGNC HGNC:14063 protein_coding YES CCDS2529.1 ENSP00000264606 P56524 UPI000013D541 NM_006037.3 12/27 Low_complexity_(Seg):seg,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF100,PIRSF_domain:PIRSF037911 HIGH 1 deletion 1 1 PASS GCTG . . 239126540 DYNC1LI1 . GRCh38 chr3 32537044 32537044 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.799A>G p.Ile267Val p.I267V ENST00000273130 6/13 87 57 30 52 52 0 DYNC1LI1,missense_variant,p.Ile267Val,ENST00000273130,NM_016141.3;DYNC1LI1,missense_variant,p.Ile151Val,ENST00000432458,;DYNC1LI1,downstream_gene_variant,,ENST00000413350,;DYNC1LI1,non_coding_transcript_exon_variant,,ENST00000481915,;DYNC1LI1,non_coding_transcript_exon_variant,,ENST00000472985,; C ENSG00000144635 ENST00000273130 Transcript missense_variant 903/2504 799/1572 267/523 I/V Att/Gtt 1 -1 DYNC1LI1 HGNC HGNC:18745 protein_coding YES CCDS2654.1 ENSP00000273130 Q9Y6G9 UPI000013D99D NM_016141.3 deleterious(0.05) possibly_damaging(0.896) 6/13 Gene3D:3.40.50.300,Pfam_domain:PF05783,hmmpanther:PTHR12688,hmmpanther:PTHR12688:SF2,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS ATA . . 32537044 UBA7 . GRCh38 chr3 49807914 49807914 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.2537T>C p.Val846Ala p.V846A ENST00000333486 21/24 77 55 19 36 36 0 UBA7,missense_variant,p.Val846Ala,ENST00000333486,NM_003335.2;INKA1,downstream_gene_variant,,ENST00000333323,NM_203370.1;MIR5193,upstream_gene_variant,,ENST00000584510,;UBA7,downstream_gene_variant,,ENST00000494212,;UBA7,downstream_gene_variant,,ENST00000460516,;UBA7,downstream_gene_variant,,ENST00000460703,;UBA7,downstream_gene_variant,,ENST00000473992,;UBA7,downstream_gene_variant,,ENST00000478688,;UBA7,downstream_gene_variant,,ENST00000478875,;UBA7,downstream_gene_variant,,ENST00000483751,;UBA7,downstream_gene_variant,,ENST00000488536,;UBA7,downstream_gene_variant,,ENST00000489826,;UBA7,upstream_gene_variant,,ENST00000497908,; G ENSG00000182179 ENST00000333486 Transcript missense_variant 2696/3299 2537/3039 846/1012 V/A gTg/gCg 1 -1 UBA7 HGNC HGNC:12471 protein_coding YES CCDS2805.1 ENSP00000333266 P41226 UPI000006E3F8 NM_003335.2 tolerated(1) benign(0.006) 21/24 cd01490,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF143,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572 MODERATE 1 SNV 1 PASS CAC . . 49807914 SLC25A26 . GRCh38 chr3 66262129 66262129 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.379A>G p.Ile127Val p.I127V ENST00000354883 5/11 60 46 14 38 37 0 SLC25A26,missense_variant,p.Ile127Val,ENST00000354883,NM_173471.3;SLC25A26,missense_variant,p.Ile39Val,ENST00000413054,;SLC25A26,missense_variant,p.Ile39Val,ENST00000336733,NM_001164796.1;SLC25A26,non_coding_transcript_exon_variant,,ENST00000484768,;SLC25A26,missense_variant,p.Ile39Val,ENST00000464350,;SLC25A26,missense_variant,p.Ile64Val,ENST00000483224,; G ENSG00000144741 ENST00000354883 Transcript missense_variant 1107/2673 379/825 127/274 I/V Att/Gtt 1 1 SLC25A26 HGNC HGNC:20661 protein_coding YES CCDS2905.2 ENSP00000346955 Q70HW3 UPI000003615A NM_173471.3 tolerated(0.41) benign(0.02) 5/11 PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF45,hmmpanther:PTHR24089,Gene3D:1.50.40.10,Pfam_domain:PF00153,Superfamily_domains:SSF103506 MODERATE 1 SNV 2 1 PASS GAT . . 66262129 PDIA5 . GRCh38 chr3 123116239 123116239 + Missense_Mutation SNP A A C novel 7316-2751 BS_RB3PE7G3 A A c.550A>C p.Met184Leu p.M184L ENST00000316218 8/17 54 34 17 41 40 0 PDIA5,missense_variant,p.Met184Leu,ENST00000316218,NM_006810.3;PDIA5,missense_variant,p.Met184Leu,ENST00000489923,; C ENSG00000065485 ENST00000316218 Transcript missense_variant 645/1799 550/1560 184/519 M/L Atg/Ctg 1 1 PDIA5 HGNC HGNC:24811 protein_coding YES CCDS3020.1 ENSP00000323313 Q14554 UPI000013148A NM_006810.3 tolerated(0.58) benign(0.01) 8/17 Gene3D:3.40.30.10,Pfam_domain:PF00085,PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF103,Superfamily_domains:SSF52833,cd02997 MODERATE 1 SNV 1 PASS CAT . . 123116239 ATP2C1 . GRCh38 chr3 130934697 130934697 + Missense_Mutation SNP G G A rs776285179 7316-2751 BS_RB3PE7G3 G G c.412G>A p.Val138Ile p.V138I ENST00000507488 4/28 91 61 29 47 46 0 ATP2C1,missense_variant,p.Val104Ile,ENST00000510168,;ATP2C1,missense_variant,p.Val104Ile,ENST00000508532,NM_001199179.1;ATP2C1,missense_variant,p.Val138Ile,ENST00000505330,NM_001199181.1;ATP2C1,missense_variant,p.Val104Ile,ENST00000428331,NM_014382.3;ATP2C1,missense_variant,p.Val88Ile,ENST00000504948,NM_001199184.1;ATP2C1,missense_variant,p.Val104Ile,ENST00000533801,NM_001001485.2;ATP2C1,missense_variant,p.Val138Ile,ENST00000507488,NM_001199180.1;ATP2C1,missense_variant,p.Val99Ile,ENST00000504381,NM_001199182.1;ATP2C1,missense_variant,p.Val104Ile,ENST00000328560,NM_001199185.1;ATP2C1,missense_variant,p.Val88Ile,ENST00000513801,NM_001199183.1;ATP2C1,missense_variant,p.Val104Ile,ENST00000359644,NM_001001486.1;ATP2C1,missense_variant,p.Val104Ile,ENST00000422190,NM_001001487.1;ATP2C1,missense_variant,p.Val58Ile,ENST00000504612,;ATP2C1,missense_variant,p.Val104Ile,ENST00000505072,;ATP2C1,downstream_gene_variant,,ENST00000508297,;ATP2C1,downstream_gene_variant,,ENST00000509662,;AC055733.2,upstream_gene_variant,,ENST00000504737,;,regulatory_region_variant,,ENSR00000158409,; A ENSG00000017260 ENST00000507488 Transcript missense_variant 632/3579 412/2922 138/973 V/I Gtc/Atc rs776285179,COSM6607840,COSM6607839 1 1 ATP2C1 HGNC HGNC:13211 protein_coding YES CCDS56278.1 ENSP00000421326 P98194 UPI0000EE224C NM_001199180.1 tolerated(0.59) benign(0.017) 4/28 Gene3D:2.70.150.10,hmmpanther:PTHR42861,hmmpanther:PTHR42861:SF2,Superfamily_domains:SSF81665,TIGRFAM_domain:TIGR01522,Transmembrane_helices:TMhelix,cd02085,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 2 0,1,1 1 PASS CGT . . 3.66e-05 6.54e-05 6.28e-05 3.25e-05 130934697 GRK7 . GRCh38 chr3 141807813 141807813 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.1219A>G p.Thr407Ala p.T407A ENST00000264952 3/4 54 35 19 43 42 0 GRK7,missense_variant,p.Thr407Ala,ENST00000264952,NM_139209.2; G ENSG00000114124 ENST00000264952 Transcript missense_variant 1356/3239 1219/1662 407/553 T/A Act/Gct 1 1 GRK7 HGNC HGNC:17031 protein_coding YES CCDS3120.1 ENSP00000264952 Q8WTQ7 UPI000004244D NM_139209.2 deleterious(0.02) possibly_damaging(0.887) 3/4 cd05607,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24355:SF12,hmmpanther:PTHR24355 MODERATE 1 SNV 1 PASS AAC . . 141807813 MUC20 . GRCh38 chr3 195725774 195725774 + Missense_Mutation SNP G G A rs200616967 7316-2751 BS_RB3PE7G3 G G c.1171G>A p.Gly391Ser p.G391S ENST00000447234 2/4 30 25 5 24 24 0 MUC20,missense_variant,p.Gly356Ser,ENST00000445522,;MUC20,missense_variant,p.Gly391Ser,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Gly391Ser,ENST00000436408,;MUC20,missense_variant,p.Gly220Ser,ENST00000320736,;MUC20,upstream_gene_variant,,ENST00000423938,;MUC20-OT1,intron_variant,,ENST00000594446,;MUC20-OT1,intron_variant,,ENST00000595086,;MUC20-OT1,intron_variant,,ENST00000597662,;MUC20-OT1,intron_variant,,ENST00000600197,;MUC20-OT1,intron_variant,,ENST00000626093,;MUC20-OT1,intron_variant,,ENST00000627035,;MUC20-OT1,intron_variant,,ENST00000627297,;MUC20-OT1,intron_variant,,ENST00000627993,;MUC20-OT1,intron_variant,,ENST00000628125,;MUC20-OT1,intron_variant,,ENST00000628392,;MUC20-OT1,intron_variant,,ENST00000628982,;MUC20-OT1,intron_variant,,ENST00000629537,;MUC20-OT1,intron_variant,,ENST00000629721,;MUC20-OT1,intron_variant,,ENST00000629807,;MUC20-OT1,intron_variant,,ENST00000631359,;MUC20-OT1,downstream_gene_variant,,ENST00000432194,;MUC20-OT1,downstream_gene_variant,,ENST00000455807,;MUC20-OT1,downstream_gene_variant,,ENST00000594976,;MUC20-OT1,downstream_gene_variant,,ENST00000599566,;MUC20-OT1,downstream_gene_variant,,ENST00000600288,;MUC20-OT1,downstream_gene_variant,,ENST00000612098,;MUC20-OT1,downstream_gene_variant,,ENST00000625383,;MUC20-OT1,downstream_gene_variant,,ENST00000625531,;MUC20-OT1,downstream_gene_variant,,ENST00000625665,;MUC20-OT1,downstream_gene_variant,,ENST00000626566,;MUC20-OT1,downstream_gene_variant,,ENST00000626852,;MUC20-OT1,downstream_gene_variant,,ENST00000626872,;MUC20-OT1,downstream_gene_variant,,ENST00000626979,;MUC20-OT1,downstream_gene_variant,,ENST00000627471,;MUC20-OT1,downstream_gene_variant,,ENST00000627609,;MUC20-OT1,downstream_gene_variant,,ENST00000630197,;MUC20-OT1,downstream_gene_variant,,ENST00000630874,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,upstream_gene_variant,,ENST00000498018,; A ENSG00000176945 ENST00000447234 Transcript missense_variant 1297/2589 1171/2130 391/709 G/S Ggc/Agc rs200616967,COSM479881 1 1 MUC20 HGNC HGNC:23282 protein_coding YES CCDS63877.1 ENSP00000414350 Q8N307 UPI000198CC5A NM_001282506.1 tolerated_low_confidence(0.5) benign(0.001) 2/4 mobidb-lite,hmmpanther:PTHR37358 0,1 MODERATE 1 SNV 5 0,1 PASS CGG . . 0.001569 0.006889 0.000757 0.0009782 0.01342 0.0007182 0.0009074 0.001121 0.0005746 195725774 PLK4 . GRCh38 chr4 127887401 127887401 + Missense_Mutation SNP A A G rs373379984 7316-2751 BS_RB3PE7G3 A A c.1364A>G p.Asn455Ser p.N455S ENST00000270861 6/16 60 33 26 39 39 0 PLK4,missense_variant,p.Asn455Ser,ENST00000270861,NM_014264.4;PLK4,missense_variant,p.Asn455Ser,ENST00000515069,;PLK4,missense_variant,p.Asn421Ser,ENST00000507249,;PLK4,missense_variant,p.Asn423Ser,ENST00000513090,NM_001190799.1;PLK4,missense_variant,p.Asn414Ser,ENST00000514379,NM_001190801.1;PLK4,upstream_gene_variant,,ENST00000508113,;RNU6-583P,upstream_gene_variant,,ENST00000516012,;PLK4,downstream_gene_variant,,ENST00000511942,;PLK4,non_coding_transcript_exon_variant,,ENST00000510605,;PLK4,downstream_gene_variant,,ENST00000503914,;PLK4,upstream_gene_variant,,ENST00000507454,; G ENSG00000142731 ENST00000270861 Transcript missense_variant 1638/3841 1364/2913 455/970 N/S aAt/aGt rs373379984 1 1 PLK4 HGNC HGNC:11397 protein_coding YES CCDS3735.1 ENSP00000270861 O00444 UPI000007426E NM_014264.4 tolerated(0.37) benign(0) 6/16 Gene3D:1.10.510.10,hmmpanther:PTHR24345,hmmpanther:PTHR24345:SF50,mobidb-lite 0.0014 0.0072 0.000227 0.0001163 MODERATE 1 SNV 1 1 PASS AAT . . 0.0007963 0.0002686 3.008e-05 7.351e-05 0.005991 127887401 PCDHB15 . GRCh38 chr5 141246470 141246470 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.892T>C p.Ser298Pro p.S298P ENST00000231173 1/1 68 60 7 38 38 0 PCDHB15,missense_variant,p.Ser298Pro,ENST00000231173,NM_018935.3;PCDHB15,missense_variant,p.Ser121Pro,ENST00000623671,;AC244517.10,downstream_gene_variant,,ENST00000624396,;AC244517.11,upstream_gene_variant,,ENST00000623336,;AC244517.11,upstream_gene_variant,,ENST00000624192,;AC244517.11,upstream_gene_variant,,ENST00000624424,;AC244517.11,upstream_gene_variant,,ENST00000624560,;PCDHB19P,downstream_gene_variant,,ENST00000625133,;,regulatory_region_variant,,ENSR00000317589,;PCDHB19P,downstream_gene_variant,,ENST00000570871,; C ENSG00000113248 ENST00000231173 Transcript missense_variant 1122/4017 892/2364 298/787 S/P Tca/Cca 1 1 PCDHB15 HGNC HGNC:8686 protein_coding YES CCDS4257.1 ENSP00000231173 Q9Y5E8 UPI00001273E8 NM_018935.3 deleterious_low_confidence(0) possibly_damaging(0.906) 1/1 Gene3D:2.60.350.10,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF97,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 MODERATE SNV PASS TTC . . 141246470 TRIM27 . GRCh38 chr6 28904125 28904125 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.1487A>G p.Asp496Gly p.D496G ENST00000377199 8/8 52 39 13 33 32 0 TRIM27,missense_variant,p.Asp496Gly,ENST00000377199,NM_006510.4;TRIM27,missense_variant,p.Asp231Gly,ENST00000414543,;TRIM27,3_prime_UTR_variant,,ENST00000377194,;TRIM27,downstream_gene_variant,,ENST00000467742,;TRIM27,non_coding_transcript_exon_variant,,ENST00000481474,; C ENSG00000204713 ENST00000377199 Transcript missense_variant 1844/2967 1487/1542 496/513 D/G gAt/gGt 1 -1 TRIM27 HGNC HGNC:9975 protein_coding YES CCDS4654.1 ENSP00000366404 P14373 A0A1U9X8R9 UPI0000000DCE NM_006510.4 tolerated_low_confidence(0.5) benign(0) 8/8 hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF362 MODERATE 1 SNV 1 1 PASS ATC . . 28904125 DDAH2 . GRCh38 chr6 31727640 31727640 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.644A>G p.Asp215Gly p.D215G ENST00000375789 5/6 68 52 16 48 46 0 DDAH2,missense_variant,p.Asp215Gly,ENST00000375789,NM_001303007.1,NM_001303008.1;DDAH2,missense_variant,p.Asp215Gly,ENST00000375792,;DDAH2,missense_variant,p.Asp215Gly,ENST00000375787,NM_013974.2;DDAH2,missense_variant,p.Asp215Gly,ENST00000416410,;DDAH2,missense_variant,p.Asp215Gly,ENST00000436437,;DDAH2,missense_variant,p.Thr105Ala,ENST00000437288,;CLIC1,downstream_gene_variant,,ENST00000375779,;CLIC1,downstream_gene_variant,,ENST00000375780,NM_001287593.1;CLIC1,downstream_gene_variant,,ENST00000375784,NM_001288.4;MPIG6B,downstream_gene_variant,,ENST00000375804,NM_138274.2;MPIG6B,downstream_gene_variant,,ENST00000375805,NM_138273.2;MPIG6B,downstream_gene_variant,,ENST00000375806,NM_138272.2;MPIG6B,downstream_gene_variant,,ENST00000375809,NM_025260.3;MPIG6B,downstream_gene_variant,,ENST00000375810,NM_138277.2;MPIG6B,downstream_gene_variant,,ENST00000375814,NM_138275.2;CLIC1,downstream_gene_variant,,ENST00000395892,;MPIG6B,downstream_gene_variant,,ENST00000480039,;CLIC1,downstream_gene_variant,,ENST00000616760,NM_001287594.1;DDAH2,non_coding_transcript_exon_variant,,ENST00000480913,;DDAH2,non_coding_transcript_exon_variant,,ENST00000483792,;DDAH2,non_coding_transcript_exon_variant,,ENST00000469963,;MPIG6B,downstream_gene_variant,,ENST00000460663,;MPIG6B,downstream_gene_variant,,ENST00000466312,;MPIG6B,downstream_gene_variant,,ENST00000471545,;MPIG6B,downstream_gene_variant,,ENST00000485548,;DDAH2,downstream_gene_variant,,ENST00000488119,; C ENSG00000213722 ENST00000375789 Transcript missense_variant 1275/1688 644/858 215/285 D/G gAc/gGc 1 -1 DDAH2 HGNC HGNC:2716 protein_coding YES CCDS4718.1 ENSP00000364945 O95865 V9HW53 UPI0000033BA3 NM_001303007.1,NM_001303008.1 deleterious(0.02) benign(0.062) 5/6 Gene3D:3.75.10.10,hmmpanther:PTHR12737,hmmpanther:PTHR12737:SF16,Superfamily_domains:SSF55909 MODERATE SNV 2 PASS GTC . . 31727640 HLA-DRB1 . GRCh38 chr6 32581698 32581698 + Missense_Mutation SNP T T C rs701829 7316-2751 BS_RB3PE7G3 T T c.511A>G p.Met171Val p.M171V ENST00000360004 3/6 39 31 6 23 23 0 HLA-DRB1,missense_variant,p.Met171Val,ENST00000360004,NM_002124.3; C ENSG00000196126 ENST00000360004 Transcript missense_variant 617/1229 511/801 171/266 M/V Atg/Gtg rs701829,COSM4160962 1 -1 HLA-DRB1 HGNC HGNC:4948 protein_coding YES CCDS47409.1 ENSP00000353099 Q29974,P01911,Q9GIY3,P04229 X5DNQ0,D7RIH8 UPI000008A1F7 NM_002124.3 tolerated(1) benign(0) 3/6 PDB-ENSP_mappings:1bx2.B,PDB-ENSP_mappings:1bx2.E,PDB-ENSP_mappings:1ymm.B,PDB-ENSP_mappings:2wbj.B,PDB-ENSP_mappings:2wbj.F,PDB-ENSP_mappings:5v4m.C,PDB-ENSP_mappings:5v4m.F,PDB-ENSP_mappings:5v4m.I,PDB-ENSP_mappings:5v4m.L,cd05766,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726,PROSITE_profiles:PS50835,hmmpanther:PTHR19944:SF84,hmmpanther:PTHR19944 0.771 0.7876 0,1 MODERATE 1 SNV 0,1 1 PASS ATC . . 0.8647 0.8673 0.9108 0.9285 0.867 0.8736 0.8593 0.8743 0.8011 32581698 CLIP2 . GRCh38 chr7 74357389 74357389 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.1127A>G p.Asp376Gly p.D376G ENST00000223398 6/17 55 40 14 31 31 0 CLIP2,missense_variant,p.Asp376Gly,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.Asp376Gly,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.Asp376Gly,ENST00000395060,; G ENSG00000106665 ENST00000223398 Transcript missense_variant 1454/5563 1127/3141 376/1046 D/G gAc/gGc 1 1 CLIP2 HGNC HGNC:2586 protein_coding YES CCDS5569.1 ENSP00000223398 Q9UDT6 UPI000007061E NM_003388.4 deleterious(0.01) probably_damaging(0.996) 6/17 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916:SF10,hmmpanther:PTHR18916 MODERATE 1 SNV 5 1 PASS GAC . . 74357389 MUC3A . GRCh38 chr7 100953790 100953790 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.2011A>G p.Thr671Ala p.T671A ENST00000379458 2/12 124 95 9 93 74 0 MUC3A,missense_variant,p.Thr671Ala,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Thr671Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 2081/11226 2011/9972 671/3323 T/A Aca/Gca 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 tolerated_low_confidence(0.36) unknown(0) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TAC . . 100953790 TAS2R4 . GRCh38 chr7 141778658 141778658 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.170T>C p.Leu57Pro p.L57P ENST00000247881 1/1 51 34 17 47 47 0 TAS2R4,missense_variant,p.Leu57Pro,ENST00000247881,NM_016944.1;SSBP1,intron_variant,,ENST00000465582,; C ENSG00000127364 ENST00000247881 Transcript missense_variant 217/2378 170/900 57/299 L/P cTt/cCt 1 1 TAS2R4 HGNC HGNC:14911 protein_coding YES CCDS5868.1 ENSP00000247881 Q9NYW5 UPI0000038B0C NM_016944.1 deleterious(0) probably_damaging(0.958) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF55,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15013 MODERATE 1 SNV PASS CTT . . 141778658 OR2A12 . GRCh38 chr7 144095487 144095487 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.380A>G p.His127Arg p.H127R ENST00000641592 2/2 67 55 11 37 37 0 OR2A12,missense_variant,p.His127Arg,ENST00000641592,;OR2A12,missense_variant,p.His127Arg,ENST00000408949,NM_001004135.1; G ENSG00000221858 ENST00000641592 Transcript missense_variant 697/4163 380/933 127/310 H/R cAc/cGc 1 1 OR2A12 HGNC HGNC:15082 protein_coding YES CCDS43670.1 ENSP00000493157 Q8NGT7 A4D2G4 UPI0000061E6F deleterious(0.02) benign(0.111) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,Superfamily_domains:SSF81321,cd15420 MODERATE 1 SNV PASS CAC . . 144095487 SLC7A2 . GRCh38 chr8 17543715 17543715 + Missense_Mutation SNP G G A 7316-2751 BS_RB3PE7G3 G G c.496G>A p.Gly166Ser p.G166S ENST00000004531 2/12 57 36 19 34 32 0 SLC7A2,missense_variant,p.Gly166Ser,ENST00000470360,;SLC7A2,missense_variant,p.Gly126Ser,ENST00000494857,NM_001008539.3;SLC7A2,missense_variant,p.Gly166Ser,ENST00000004531,NM_001164771.1;SLC7A2,missense_variant,p.Gly166Ser,ENST00000398090,NM_003046.5;SLC7A2,missense_variant,p.Gly126Ser,ENST00000522656,;SLC7A2,missense_variant,p.Gly151Ser,ENST00000640220,; A ENSG00000003989 ENST00000004531 Transcript missense_variant,splice_region_variant 544/7560 496/2097 166/698 G/S Ggt/Agt COSM4750503,COSM4750504 1 1 SLC7A2 HGNC HGNC:11060 protein_coding YES CCDS55203.1 ENSP00000004531 P52569 UPI0001A336A4 NM_001164771.1 deleterious(0) possibly_damaging(0.885) 2/12 hmmpanther:PTHR43243,hmmpanther:PTHR43243:SF35,TIGRFAM_domain:TIGR00906,Pfam_domain:PF13520,Gene3D:1.10.287.70 1,1 MODERATE 1 SNV 1 1,1 PASS AGG . . 17543715 ADGRB1 . GRCh38 chr8 142464647 142464647 + Missense_Mutation SNP C C T novel 7316-2751 BS_RB3PE7G3 C C c.449C>T p.Pro150Leu p.P150L ENST00000517894 2/31 56 33 22 42 42 0 ADGRB1,missense_variant,p.Pro150Leu,ENST00000517894,;ADGRB1,missense_variant,p.Pro150Leu,ENST00000643448,;ADGRB1,missense_variant,p.Pro150Leu,ENST00000323289,NM_001702.2;ADGRB1,missense_variant,p.Pro150Leu,ENST00000521208,;,regulatory_region_variant,,ENSR00000231957,; T ENSG00000181790 ENST00000517894 Transcript missense_variant 1343/6241 449/4755 150/1584 P/L cCg/cTg 1 1 ADGRB1 HGNC HGNC:943 protein_coding YES CCDS64985.1 ENSP00000430945 O14514 UPI00002109E8 tolerated(0.08) benign(0.361) 2/31 hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,mobidb-lite MODERATE 1 SNV 5 PASS CCG . . 142464647 ADAMTSL1 . GRCh38 chr9 18753485 18753485 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.2194T>C p.Trp732Arg p.W732R ENST00000380548 16/29 55 39 15 34 34 0 ADAMTSL1,missense_variant,p.Trp732Arg,ENST00000380548,NM_001040272.5;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,; C ENSG00000178031 ENST00000380548 Transcript missense_variant 2533/8030 2194/5289 732/1762 W/R Tgg/Cgg 1 1 ADAMTSL1 HGNC HGNC:14632 protein_coding YES CCDS47954.1 ENSP00000369921 Q8N6G6 UPI000004FD83 NM_001040272.5 deleterious(0) possibly_damaging(0.831) 16/29 Gene3D:2.20.100.10,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF157,SMART_domains:SM00209,Superfamily_domains:SSF82895 MODERATE 1 SNV 5 PASS CTG . . 18753485 NTNG2 . GRCh38 chr9 132198245 132198245 + Nonsense_Mutation SNP C C T novel 7316-2751 BS_RB3PE7G3 C C c.493C>T p.Gln165Ter p.Q165* ENST00000393229 3/8 72 55 17 41 41 0 NTNG2,stop_gained,p.Gln165Ter,ENST00000393229,NM_032536.2;NTNG2,stop_gained,p.Gln165Ter,ENST00000372179,; T ENSG00000196358 ENST00000393229 Transcript stop_gained 1269/4792 493/1593 165/530 Q/* Cag/Tag 1 1 NTNG2 HGNC HGNC:14288 protein_coding YES CCDS6946.1 ENSP00000376921 Q96CW9 UPI0000367698 NM_032536.2 3/8 Gene3D:2.60.120.260,Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF28,SMART_domains:SM00136 HIGH 1 SNV 1 PASS CCA . . 132198245 GTPBP4 . GRCh38 chr10 1009027 1009027 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.1183A>G p.Lys395Glu p.K395E ENST00000360803 11/17 47 36 10 52 51 0 GTPBP4,missense_variant,p.Lys395Glu,ENST00000360803,NM_012341.2;GTPBP4,non_coding_transcript_exon_variant,,ENST00000491635,;GTPBP4,upstream_gene_variant,,ENST00000483839,;GTPBP4,downstream_gene_variant,,ENST00000491261,; G ENSG00000107937 ENST00000360803 Transcript missense_variant 1644/5075 1183/1905 395/634 K/E Aag/Gag 1 1 GTPBP4 HGNC HGNC:21535 protein_coding YES CCDS31132.1 ENSP00000354040 Q9BZE4 D2CFK9 UPI000000D960 NM_012341.2 tolerated(0.07) benign(0.201) 11/17 Pfam_domain:PF08155,PIRSF_domain:PIRSF038919,hmmpanther:PTHR11702,hmmpanther:PTHR11702:SF4 MODERATE 1 SNV 1 PASS GAA . . 1009027 NCR3LG1 . GRCh38 chr11 17356776 17356776 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.196T>C p.Phe66Leu p.F66L ENST00000338965 2/5 57 42 14 42 42 0 NCR3LG1,missense_variant,p.Phe66Leu,ENST00000338965,NM_001202439.2;NCR3LG1,missense_variant,p.Phe66Leu,ENST00000530403,; C ENSG00000188211 ENST00000338965 Transcript missense_variant 440/6438 196/1365 66/454 F/L Ttt/Ctt 1 1 NCR3LG1 HGNC HGNC:42400 protein_coding YES CCDS55748.1 ENSP00000341637 Q68D85 UPI00001F9E11 NM_001202439.2 tolerated(0.07) possibly_damaging(0.556) 2/5 Gene3D:2.60.40.10,PDB-ENSP_mappings:3pv6.A,PDB-ENSP_mappings:3pv7.A,PDB-ENSP_mappings:4zso.E,PDB-ENSP_mappings:4zso.F,PROSITE_profiles:PS50835,hmmpanther:PTHR23411,hmmpanther:PTHR23411:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS GTT . . 17356776 SAA2 . GRCh38 chr11 18245931 18245931 + Missense_Mutation SNP G G A rs79620496 7316-2751 BS_RB3PE7G3 G G c.209C>T p.Ala70Val p.A70V ENST00000526900 3/4 69 52 14 34 33 1 SAA2,missense_variant,p.Ala70Val,ENST00000414546,NM_001127380.2;SAA2,missense_variant,p.Ala70Val,ENST00000528349,;SAA2-SAA4,missense_variant,p.Ala70Val,ENST00000524555,NM_001199744.1;SAA2,missense_variant,p.Ala70Val,ENST00000526900,;SAA2,missense_variant,p.Ala70Val,ENST00000529528,;SAA2,missense_variant,p.Ala70Val,ENST00000256733,NM_030754.4;SAA2,missense_variant,p.Ala70Val,ENST00000530400,;RNA5SP333,downstream_gene_variant,,ENST00000363466,; A ENSG00000134339 ENST00000526900 Transcript missense_variant 393/687 209/369 70/122 A/V gCc/gTc rs79620496,COSM304951 1 -1 SAA2 HGNC HGNC:10514 protein_coding YES CCDS7833.1 ENSP00000436126 P0DJI9 UPI000016A553 tolerated(0.53) benign(0.003) 3/4 hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PROSITE_patterns:PS00992,PIRSF_domain:PIRSF002472,Pfam_domain:PF00277,SMART_domains:SM00197,Prints_domain:PR00306 0,1 MODERATE 1 SNV 2 0,1 PASS GGC . . 0.253 0.1924 0.1953 0.1803 0.09288 0.3457 0.3184 0.2376 0.1726 18245931 AHNAK . GRCh38 chr11 62526332 62526332 + Missense_Mutation SNP G G T rs1184905338 7316-2751 BS_RB3PE7G3 G G c.8085C>A p.Phe2695Leu p.F2695L ENST00000378024 5/5 61 55 5 39 39 0 AHNAK,missense_variant,p.Phe2695Leu,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 8360/18787 8085/17673 2695/5890 F/L ttC/ttA rs1184905338 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.11) probably_damaging(0.981) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,mobidb-lite MODERATE 1 SNV 2 PASS TGA . . 62526332 SPDYC . GRCh38 chr11 65172522 65172522 + Missense_Mutation SNP G G C novel 7316-2751 BS_RB3PE7G3 G G c.433G>C p.Val145Leu p.V145L ENST00000377185 5/7 50 32 17 45 42 0 SPDYC,missense_variant,p.Val145Leu,ENST00000377185,NM_001008778.1;PGAM1P8,downstream_gene_variant,,ENST00000534819,;PGAM1P8,downstream_gene_variant,,ENST00000526979,; C ENSG00000204710 ENST00000377185 Transcript missense_variant 515/991 433/882 145/293 V/L Gtg/Ctg 1 1 SPDYC HGNC HGNC:32681 protein_coding YES CCDS31606.1 ENSP00000366390 Q5MJ68 UPI00004A072F NM_001008778.1 tolerated(0.16) possibly_damaging(0.621) 5/7 hmmpanther:PTHR31545:SF2,hmmpanther:PTHR31545,Pfam_domain:PF11357 MODERATE 1 SNV 1 PASS AGT . . 65172522 USP28 . GRCh38 chr11 113815248 113815248 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.1598T>C p.Val533Ala p.V533A ENST00000003302 14/25 64 53 9 47 46 0 USP28,missense_variant,p.Val533Ala,ENST00000003302,NM_020886.3,NM_001346255.1,NM_001346261.1,NM_001346254.1,NM_001346257.1,NM_001346260.1;USP28,missense_variant,p.Val241Ala,ENST00000544967,;USP28,missense_variant,p.Val408Ala,ENST00000545540,NM_001301029.1;USP28,missense_variant,p.Val533Ala,ENST00000537706,NM_001346273.1;USP28,missense_variant,p.Val237Ala,ENST00000538475,;AP003170.3,upstream_gene_variant,,ENST00000399123,;USP28,intron_variant,,ENST00000540438,;USP28,downstream_gene_variant,,ENST00000535607,;USP28,downstream_gene_variant,,ENST00000537490,;USP28,downstream_gene_variant,,ENST00000545608,; G ENSG00000048028 ENST00000003302 Transcript missense_variant 1667/4669 1598/3234 533/1077 V/A gTc/gCc 1 -1 USP28 HGNC HGNC:12625 protein_coding YES CCDS31680.1 ENSP00000003302 Q96RU2 UPI0000137A00 NM_020886.3,NM_001346255.1,NM_001346261.1,NM_001346254.1,NM_001346257.1,NM_001346260.1 deleterious(0.03) benign(0.37) 14/25 mobidb-lite,PROSITE_profiles:PS50235,cd02665,hmmpanther:PTHR44130:SF2,hmmpanther:PTHR44130,Pfam_domain:PF00443,Gene3D:3.90.70.10 MODERATE 1 SNV 1 PASS GAC . . 113815248 DSCAML1 . GRCh38 chr11 117516472 117516472 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.1958T>C p.Val653Ala p.V653A ENST00000321322 8/33 55 41 13 34 34 0 DSCAML1,missense_variant,p.Val653Ala,ENST00000321322,NM_020693.3;DSCAML1,missense_variant,p.Val383Ala,ENST00000527706,; G ENSG00000177103 ENST00000321322 Transcript missense_variant 1960/6899 1958/6342 653/2113 V/A gTc/gCc 1 -1 DSCAML1 HGNC HGNC:14656 protein_coding YES CCDS8384.1 ENSP00000315465 Q8TD84 UPI00000726E2 NM_020693.3 deleterious(0.01) possibly_damaging(0.594) 8/33 hmmpanther:PTHR44107:SF3,hmmpanther:PTHR44107,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS GAC . . 117516472 ARHGEF12 . GRCh38 chr11 120440177 120440177 + Missense_Mutation SNP A A G rs1368890371 7316-2751 BS_RB3PE7G3 A A c.1048A>G p.Ile350Val p.I350V ENST00000397843 13/41 71 52 16 39 39 0 ARHGEF12,missense_variant,p.Ile350Val,ENST00000397843,NM_015313.2;ARHGEF12,missense_variant,p.Ile247Val,ENST00000532993,NM_001301084.1;ARHGEF12,missense_variant,p.Ile331Val,ENST00000356641,NM_001198665.1;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000528225,; G ENSG00000196914 ENST00000397843 Transcript missense_variant 1214/9660 1048/4635 350/1544 I/V Att/Gtt rs1368890371 1 1 ARHGEF12 HGNC HGNC:14193 protein_coding YES CCDS41727.1 ENSP00000380942 Q9NZN5 UPI00000708ED NM_015313.2 deleterious(0) probably_damaging(0.995) 13/41 cd08754,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF126 MODERATE 1 SNV 1 1 PASS TAT . . 4.065e-06 2.98e-05 120440177 ARHGEF12 . GRCh38 chr11 120458136 120458136 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.2282A>G p.Asp761Gly p.D761G ENST00000397843 25/41 73 60 11 45 44 0 ARHGEF12,missense_variant,p.Asp761Gly,ENST00000397843,NM_015313.2;ARHGEF12,missense_variant,p.Asp658Gly,ENST00000532993,NM_001301084.1;ARHGEF12,missense_variant,p.Asp742Gly,ENST00000356641,NM_001198665.1;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000525222,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000530747,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000612968,;ARHGEF12,upstream_gene_variant,,ENST00000531616,;ARHGEF12,downstream_gene_variant,,ENST00000532823,; G ENSG00000196914 ENST00000397843 Transcript missense_variant 2448/9660 2282/4635 761/1544 D/G gAc/gGc 1 1 ARHGEF12 HGNC HGNC:14193 protein_coding YES CCDS41727.1 ENSP00000380942 Q9NZN5 UPI00000708ED NM_015313.2 deleterious(0.02) probably_damaging(0.934) 25/41 hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF126 MODERATE 1 SNV 1 1 PASS GAC . . 120458136 GUCY2C . GRCh38 chr12 14674754 14674754 + Nonsense_Mutation SNP G G A rs760164631 7316-2751 BS_RB3PE7G3 G G c.955C>T p.Arg319Ter p.R319* ENST00000261170 8/27 65 38 25 48 47 0 GUCY2C,stop_gained,p.Arg319Ter,ENST00000261170,NM_004963.3;AC010168.1,intron_variant,,ENST00000501178,;GUCY2C,non_coding_transcript_exon_variant,,ENST00000535803,; A ENSG00000070019 ENST00000261170 Transcript stop_gained 1092/3844 955/3222 319/1073 R/* Cga/Tga rs760164631,COSM1209209 1 -1 GUCY2C HGNC HGNC:4688 protein_coding YES CCDS8664.1 ENSP00000261170 P25092 UPI000013D135 NM_004963.3 8/27 cd06369,hmmpanther:PTHR11920:SF347,hmmpanther:PTHR11920,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822 0,1 HIGH 1 SNV 1 0,1 1 PASS CGT . . 2.09e-05 5.935e-05 0.0001354 14674754 MYH6 . GRCh38 chr14 23385962 23385962 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.5129A>G p.Glu1710Gly p.E1710G ENST00000405093 34/39 61 38 21 39 39 0 MYH6,missense_variant,p.Glu1710Gly,ENST00000405093,NM_002471.3;MYH6,missense_variant,p.Glu1710Gly,ENST00000356287,;MIR208A,downstream_gene_variant,,ENST00000362287,;,regulatory_region_variant,,ENSR00000066734,; C ENSG00000197616 ENST00000405093 Transcript missense_variant 5200/5941 5129/5820 1710/1939 E/G gAg/gGg 1 -1 MYH6 HGNC HGNC:7576 protein_coding YES CCDS9600.1 ENSP00000386041 P13533 UPI0000160969 NM_002471.3 deleterious(0) possibly_damaging(0.734) 34/39 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF344 MODERATE 1 SNV 5 1 PASS CTC . . 23385962 KIAA0391 . GRCh38 chr14 35270436 35270436 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.1460T>C p.Leu487Pro p.L487P ENST00000534898 7/8 60 47 13 55 53 0 KIAA0391,missense_variant,p.Leu471Pro,ENST00000250377,NM_001256678.1;KIAA0391,missense_variant,p.Leu487Pro,ENST00000534898,NM_014672.3;KIAA0391,missense_variant,p.Leu471Pro,ENST00000603544,;KIAA0391,missense_variant,p.Leu392Pro,ENST00000604948,NM_001256679.1;KIAA0391,missense_variant,p.Leu115Pro,ENST00000321130,NM_001256681.1;KIAA0391,missense_variant,p.Leu115Pro,ENST00000605870,NM_001256680.1;KIAA0391,missense_variant,p.Leu115Pro,ENST00000557404,;AL121594.1,missense_variant,p.Leu487Pro,ENST00000557565,; C ENSG00000100890 ENST00000534898 Transcript missense_variant 1820/2611 1460/1752 487/583 L/P cTg/cCg 1 1 KIAA0391 HGNC HGNC:19958 protein_coding YES CCDS32063.1 ENSP00000440915 O15091 UPI000000CC23 NM_014672.3 deleterious(0) probably_damaging(0.997) 7/8 hmmpanther:PTHR13547,hmmpanther:PTHR13547:SF1,Pfam_domain:PF16953 MODERATE 1 SNV 1 PASS CTG . . 35270436 MAP4K5 . GRCh38 chr14 50447456 50447456 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.1100T>C p.Met367Thr p.M367T ENST00000013125 16/32 70 50 18 43 42 0 MAP4K5,missense_variant,p.Met367Thr,ENST00000013125,NM_198794.2,NM_006575.4;AL118556.1,upstream_gene_variant,,ENST00000555257,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000554990,;,regulatory_region_variant,,ENSR00000068132,; G ENSG00000012983 ENST00000013125 Transcript missense_variant 1419/4354 1100/2541 367/846 M/T aTg/aCg 1 -1 MAP4K5 HGNC HGNC:6867 protein_coding YES ENSP00000013125 Q9Y4K4 UPI00015DFDAA NM_198794.2,NM_006575.4 tolerated(0.45) benign(0) 16/32 mobidb-lite,hmmpanther:PTHR24361:SF324,hmmpanther:PTHR24361,Gene3D:1.10.510.10,PIRSF_domain:PIRSF038172 MODERATE 1 SNV 1 PASS CAT . . 50447456 PPP4R4 . GRCh38 chr14 94241908 94241917 + Frame_Shift_Del DEL AGGAGAAGAA AGGAGAAGAA - novel 7316-2751 BS_RB3PE7G3 AGGAGAAGAA AGGAGAAGAA c.1098_1107del p.Gln366HisfsTer16 p.Q366Hfs*16 ENST00000304338 10/25 83 62 21 47 47 0 PPP4R4,frameshift_variant,p.Gln366HisfsTer16,ENST00000304338,NM_058237.1,NM_001348142.1; - ENSG00000119698 ENST00000304338 Transcript frameshift_variant 1251-1260/3868 1097-1106/2622 366-369/873 QEKK/X cAGGAGAAGAAa/ca 1 1 PPP4R4 HGNC HGNC:23788 protein_coding YES CCDS9921.1 ENSP00000305924 Q6NUP7 UPI000016223B NM_058237.1,NM_001348142.1 10/25 hmmpanther:PTHR21467,Gene3D:1.25.10.10,Superfamily_domains:SSF48371 HIGH 1 deletion 1 1 PASS GCAGGAGAAGAAA . . 94241907 CYP1A1 . GRCh38 chr15 74723034 74723034 + Missense_Mutation SNP C C T novel 7316-2751 BS_RB3PE7G3 C C c.64G>A p.Val22Ile p.V22I ENST00000379727 2/7 86 66 17 41 39 0 CYP1A1,missense_variant,p.Val22Ile,ENST00000379727,NM_000499.4,NM_001319217.1;CYP1A1,missense_variant,p.Val22Ile,ENST00000395048,;CYP1A1,missense_variant,p.Val22Ile,ENST00000617691,NM_001319216.1;CYP1A1,missense_variant,p.Val22Ile,ENST00000612821,;CYP1A1,missense_variant,p.Val22Ile,ENST00000567032,;CYP1A1,missense_variant,p.Val22Ile,ENST00000395049,;CYP1A1,intron_variant,,ENST00000564596,;CYP1A1,intron_variant,,ENST00000566503,;CYP1A1,missense_variant,p.Val22Ile,ENST00000569630,;CYP1A1,missense_variant,p.Val22Ile,ENST00000562201,; T ENSG00000140465 ENST00000379727 Transcript missense_variant 263/2685 64/1539 22/512 V/I Gta/Ata 1 -1 CYP1A1 HGNC HGNC:2595 protein_coding YES CCDS10268.1 ENSP00000369050 P04798 A0N0X8 UPI0000128195 NM_000499.4,NM_001319217.1 tolerated(0.21) benign(0.023) 2/7 Transmembrane_helices:TMhelix,hmmpanther:PTHR24299:SF8,hmmpanther:PTHR24299,Gene3D:1.10.630.10,Prints_domain:PR01683 MODERATE 1 SNV 1 PASS ACC . . 74723034 IREB2 . GRCh38 chr15 78488719 78488719 + Missense_Mutation SNP A A T novel 7316-2751 BS_RB3PE7G3 A A c.2024A>T p.Glu675Val p.E675V ENST00000258886 16/22 103 83 19 36 36 0 IREB2,missense_variant,p.Glu675Val,ENST00000258886,NM_001320942.1,NM_004136.3,NM_001320941.1,NM_001354994.1;IREB2,3_prime_UTR_variant,,ENST00000558570,;IREB2,non_coding_transcript_exon_variant,,ENST00000559676,; T ENSG00000136381 ENST00000258886 Transcript missense_variant 2173/6354 2024/2892 675/963 E/V gAg/gTg 1 1 IREB2 HGNC HGNC:6115 protein_coding YES CCDS10302.1 ENSP00000258886 A0A0A6YY96 UPI0004620DD2 NM_001320942.1,NM_004136.3,NM_001320941.1,NM_001354994.1 tolerated(1) probably_damaging(1) 16/22 hmmpanther:PTHR11670,hmmpanther:PTHR11670:SF31,Superfamily_domains:SSF53732,TIGRFAM_domain:TIGR01341,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAG . . 78488719 ASB7 . GRCh38 chr15 100629467 100629467 + Missense_Mutation SNP G G A novel 7316-2751 BS_RB3PE7G3 G G c.242G>A p.Gly81Asp p.G81D ENST00000332783 5/6 70 54 16 50 50 0 ASB7,missense_variant,p.Gly81Asp,ENST00000332783,NM_198243.2;ASB7,missense_variant,p.Gly81Asp,ENST00000343276,NM_024708.3;ASB7,intron_variant,,ENST00000558747,;,regulatory_region_variant,,ENSR00000081918,; A ENSG00000183475 ENST00000332783 Transcript missense_variant 1027/4985 242/957 81/318 G/D gGc/gAc 1 1 ASB7 HGNC HGNC:17182 protein_coding YES CCDS10387.1 ENSP00000328327 Q9H672 A0A024RC94 UPI00001B3F4D NM_198243.2 deleterious(0.04) probably_damaging(0.989) 5/6 Gene3D:1.25.40.20,Pfam_domain:PF12796,Prints_domain:PR01415,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR44466,SMART_domains:SM00248,Superfamily_domains:SSF48403,cd00204 MODERATE 1 SNV 1 PASS GGC . . 100629467 CETP . GRCh38 chr16 56971088 56971088 + Missense_Mutation SNP G G A novel 7316-2751 BS_RB3PE7G3 G G c.583G>A p.Val195Ile p.V195I ENST00000200676 6/16 68 50 17 42 42 0 CETP,missense_variant,p.Val195Ile,ENST00000200676,NM_000078.2;CETP,missense_variant,p.Val130Ile,ENST00000566128,;CETP,missense_variant,p.Val195Ile,ENST00000379780,NM_001286085.1;CETP,non_coding_transcript_exon_variant,,ENST00000569082,; A ENSG00000087237 ENST00000200676 Transcript missense_variant 713/1791 583/1482 195/493 V/I Gtc/Atc 1 1 CETP HGNC HGNC:1869 protein_coding YES CCDS10772.1 ENSP00000200676 P11597 A0A0S2Z3F6 UPI000013C62C NM_000078.2 tolerated(0.17) benign(0) 6/16 Gene3D:3.15.10.10,Pfam_domain:PF01273,PIRSF_domain:PIRSF037185,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF12,SMART_domains:SM00328,Superfamily_domains:SSF55394,cd00025 MODERATE 1 SNV 1 1 PASS GGT . . 56971088 PLCG2 . GRCh38 chr16 81921196 81921196 + Splice_Site SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.2236-2A>G p.X746_splice ENST00000564138 41 25 16 43 42 0 PLCG2,splice_acceptor_variant,,ENST00000359376,;PLCG2,splice_acceptor_variant,,ENST00000564138,NM_002661.4;PLCG2,splice_acceptor_variant,,ENST00000567980,;PLCG2,upstream_gene_variant,,ENST00000570196,; G ENSG00000197943 ENST00000564138 Transcript splice_acceptor_variant 1 1 PLCG2 HGNC HGNC:9066 protein_coding YES CCDS42204.1 ENSP00000482457 P16885 UPI00001411F7 NM_002661.4 20/32 HIGH 1 SNV 1 1 PASS CAG . . 81921196 CTC1 . GRCh38 chr17 8230599 8230599 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.2722T>C p.Cys908Arg p.C908R ENST00000315684 16/23 52 38 14 40 39 0 CTC1,missense_variant,p.Cys908Arg,ENST00000315684,NM_025099.5;CTC1,upstream_gene_variant,,ENST00000580299,;CTC1,upstream_gene_variant,,ENST00000581729,;CTC1,non_coding_transcript_exon_variant,,ENST00000581671,;CTC1,missense_variant,p.Cys873Arg,ENST00000449476,;CTC1,3_prime_UTR_variant,,ENST00000643543,;CTC1,3_prime_UTR_variant,,ENST00000578537,;CTC1,non_coding_transcript_exon_variant,,ENST00000578240,;CTC1,non_coding_transcript_exon_variant,,ENST00000578441,;CTC1,non_coding_transcript_exon_variant,,ENST00000584439,;CTC1,downstream_gene_variant,,ENST00000579066,;CTC1,downstream_gene_variant,,ENST00000581967,;CTC1,downstream_gene_variant,,ENST00000583254,; G ENSG00000178971 ENST00000315684 Transcript missense_variant 2781/7072 2722/3654 908/1217 C/R Tgt/Cgt 1 -1 CTC1 HGNC HGNC:26169 protein_coding YES CCDS42259.1 ENSP00000313759 Q2NKJ3 UPI000041A9A9 NM_025099.5 deleterious(0) probably_damaging(0.997) 16/23 Pfam_domain:PF15489,hmmpanther:PTHR14865 MODERATE 1 SNV 1 1 PASS CAT . . 8230599 CTC1 . GRCh38 chr17 8236105 8236105 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.1030A>G p.Lys344Glu p.K344E ENST00000315684 6/23 69 47 21 36 36 0 CTC1,missense_variant,p.Lys344Glu,ENST00000315684,NM_025099.5;CTC1,non_coding_transcript_exon_variant,,ENST00000581671,;CTC1,missense_variant,p.Lys344Glu,ENST00000643543,;CTC1,missense_variant,p.Lys309Glu,ENST00000449476,;CTC1,upstream_gene_variant,,ENST00000578240,;CTC1,upstream_gene_variant,,ENST00000578441,;CTC1,upstream_gene_variant,,ENST00000578537,;CTC1,upstream_gene_variant,,ENST00000579066,;CTC1,upstream_gene_variant,,ENST00000581967,;CTC1,upstream_gene_variant,,ENST00000583254,;CTC1,downstream_gene_variant,,ENST00000584842,; C ENSG00000178971 ENST00000315684 Transcript missense_variant 1089/7072 1030/3654 344/1217 K/E Aag/Gag 1 -1 CTC1 HGNC HGNC:26169 protein_coding YES CCDS42259.1 ENSP00000313759 Q2NKJ3 UPI000041A9A9 NM_025099.5 tolerated(0.3) benign(0.04) 6/23 Pfam_domain:PF15489,hmmpanther:PTHR14865,mobidb-lite MODERATE 1 SNV 1 1 PASS TTC . . 8236105 GAS2L2 . GRCh38 chr17 35750140 35750140 + Frame_Shift_Del DEL G G - novel 7316-2751 BS_RB3PE7G3 G G c.564del p.Asp189ThrfsTer26 p.D189Tfs*26 ENST00000604641 2/6 48 37 7 34 33 0 GAS2L2,frameshift_variant,p.Asp189ThrfsTer26,ENST00000604641,NM_139285.3;GAS2L2,intron_variant,,ENST00000604063,;GAS2L2,intron_variant,,ENST00000618498,;TAF15,intron_variant,,ENST00000603067,;,regulatory_region_variant,,ENSR00000093508,; - ENSG00000270765 ENST00000604641 Transcript frameshift_variant 592/3014 564/2643 188/880 P/X ccC/cc 1 -1 GAS2L2 HGNC HGNC:24846 protein_coding YES CCDS11298.1 ENSP00000474529 Q8NHY3 UPI0000061E50 NM_139285.3 2/6 hmmpanther:PTHR45044,mobidb-lite,Low_complexity_(Seg):seg HIGH 1 deletion 1 PASS TCGG . . 35750139 TLK2 . GRCh38 chr17 62553723 62553723 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.688A>G p.Lys230Glu p.K230E ENST00000326270 9/23 75 60 14 45 44 0 TLK2,missense_variant,p.Lys81Glu,ENST00000582809,;TLK2,missense_variant,p.Lys230Glu,ENST00000326270,NM_001284333.1;TLK2,missense_variant,p.Lys230Glu,ENST00000346027,NM_006852.3;TLK2,missense_variant,p.Lys198Glu,ENST00000343388,NM_001284363.1;TLK2,missense_variant,p.Lys166Glu,ENST00000581041,;TLK2,missense_variant,p.Lys160Glu,ENST00000580705,;TLK2,intron_variant,,ENST00000578697,;TLK2,downstream_gene_variant,,ENST00000583843,;AC008026.3,downstream_gene_variant,,ENST00000583426,;TLK2,non_coding_transcript_exon_variant,,ENST00000581286,; G ENSG00000146872 ENST00000326270 Transcript missense_variant 956/3512 688/2319 230/772 K/E Aag/Gag 1 1 TLK2 HGNC HGNC:11842 protein_coding YES CCDS62283.1 ENSP00000316512 Q86UE8 UPI00001B6B0E NM_001284333.1 tolerated(0.07) probably_damaging(0.995) 9/23 Gene3D:3.30.200.20,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF20 MODERATE 1 SNV 1 1 PASS GAA . . 62553723 KIF19 . GRCh38 chr17 74354488 74354488 + Frame_Shift_Del DEL A A - novel 7316-2751 BS_RB3PE7G3 A A c.2638del p.Arg880GlyfsTer150 p.R880Gfs*150 ENST00000389916 18/20 68 50 15 39 37 0 KIF19,frameshift_variant,p.Arg880GlyfsTer150,ENST00000389916,NM_153209.3;BTBD17,downstream_gene_variant,,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000551294,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000547389,;KIF19,downstream_gene_variant,,ENST00000549637,;,regulatory_region_variant,,ENSR00000098188,; - ENSG00000196169 ENST00000389916 Transcript frameshift_variant 2773/3643 2635/2997 879/998 K/X Aaa/aa 1 1 KIF19 HGNC HGNC:26735 protein_coding YES CCDS32718.2 ENSP00000374566 Q2TAC6 UPI0000F0A553 NM_153209.3 18/20 hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF434,mobidb-lite HIGH deletion 5 3 PASS AGAA . . 74354487 EIF4A3 . GRCh38 chr17 80141353 80141353 + Frame_Shift_Del DEL G G - novel 7316-2751 BS_RB3PE7G3 G G c.338del p.Ala113ValfsTer21 p.A113Vfs*21 ENST00000269349 4/12 116 82 25 46 45 0 EIF4A3,frameshift_variant,p.Ala113ValfsTer21,ENST00000269349,NM_014740.3;EIF4A3,intron_variant,,ENST00000576547,;EIF4A3,upstream_gene_variant,,ENST00000570837,;EIF4A3,upstream_gene_variant,,ENST00000575668,;EIF4A3,downstream_gene_variant,,ENST00000575957,;EIF4A3,upstream_gene_variant,,ENST00000575978,;EIF4A3,upstream_gene_variant,,ENST00000576573,; - ENSG00000141543 ENST00000269349 Transcript frameshift_variant 560/1734 338/1236 113/411 A/X gCt/gt 1 -1 EIF4A3 HGNC HGNC:18683 protein_coding YES CCDS11767.1 ENSP00000269349 P38919 A0A024R8W0 UPI000012D374 NM_014740.3 4/12 PDB-ENSP_mappings:2hxy.A,PDB-ENSP_mappings:2hxy.B,PDB-ENSP_mappings:2hxy.C,PDB-ENSP_mappings:2hxy.D,PDB-ENSP_mappings:2hyi.C,PDB-ENSP_mappings:2hyi.I,PDB-ENSP_mappings:2j0q.A,PDB-ENSP_mappings:2j0q.B,PDB-ENSP_mappings:2j0s.A,PDB-ENSP_mappings:2j0u.A,PDB-ENSP_mappings:2j0u.B,PDB-ENSP_mappings:2xb2.A,PDB-ENSP_mappings:2xb2.X,Gene3D:3.40.50.300,PDB-ENSP_mappings:3ex7.C,PDB-ENSP_mappings:3ex7.H,PDB-ENSP_mappings:4c9b.A,PDB-ENSP_mappings:5mqf.p,PDB-ENSP_mappings:5xjc.u,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF57,SMART_domains:SM00487,Superfamily_domains:SSF52540,cd00268 HIGH 1 deletion 1 1 PASS GAGC . . 80141352 EIF4A3 . GRCh38 chr17 80141354 80141354 + Missense_Mutation SNP C C A novel 7316-2751 BS_RB3PE7G3 C C c.337G>T p.Ala113Ser p.A113S ENST00000269349 4/12 120 93 26 45 44 0 EIF4A3,missense_variant,p.Ala113Ser,ENST00000269349,NM_014740.3;EIF4A3,intron_variant,,ENST00000576547,;EIF4A3,upstream_gene_variant,,ENST00000570837,;EIF4A3,upstream_gene_variant,,ENST00000575668,;EIF4A3,downstream_gene_variant,,ENST00000575957,;EIF4A3,upstream_gene_variant,,ENST00000575978,;EIF4A3,upstream_gene_variant,,ENST00000576573,; A ENSG00000141543 ENST00000269349 Transcript missense_variant 559/1734 337/1236 113/411 A/S Gct/Tct 1 -1 EIF4A3 HGNC HGNC:18683 protein_coding YES CCDS11767.1 ENSP00000269349 P38919 A0A024R8W0 UPI000012D374 NM_014740.3 tolerated(0.98) benign(0.003) 4/12 PDB-ENSP_mappings:2hxy.A,PDB-ENSP_mappings:2hxy.B,PDB-ENSP_mappings:2hxy.C,PDB-ENSP_mappings:2hxy.D,PDB-ENSP_mappings:2hyi.C,PDB-ENSP_mappings:2hyi.I,PDB-ENSP_mappings:2j0q.A,PDB-ENSP_mappings:2j0q.B,PDB-ENSP_mappings:2j0s.A,PDB-ENSP_mappings:2j0u.A,PDB-ENSP_mappings:2j0u.B,PDB-ENSP_mappings:2xb2.A,PDB-ENSP_mappings:2xb2.X,Gene3D:3.40.50.300,PDB-ENSP_mappings:3ex7.C,PDB-ENSP_mappings:3ex7.H,PDB-ENSP_mappings:4c9b.A,PDB-ENSP_mappings:5mqf.p,PDB-ENSP_mappings:5xjc.u,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF57,SMART_domains:SM00487,Superfamily_domains:SSF52540,cd00268 MODERATE 1 SNV 1 1 PASS GCC . . 80141354 SMAD2 . GRCh38 chr18 47896519 47896519 + Splice_Site SNP A A C novel 7316-2751 BS_RB3PE7G3 A A c.236+2T>G p.X79_splice ENST00000262160 62 44 17 42 42 0 SMAD2,splice_donor_variant,,ENST00000262160,NM_005901.5;SMAD2,splice_donor_variant,,ENST00000356825,NM_001135937.2;SMAD2,splice_donor_variant,,ENST00000402690,NM_001003652.3;SMAD2,splice_donor_variant,,ENST00000585978,;SMAD2,splice_donor_variant,,ENST00000586040,;SMAD2,splice_donor_variant,,ENST00000586514,;SMAD2,splice_donor_variant,,ENST00000587269,;SMAD2,splice_donor_variant,,ENST00000587421,;SMAD2,splice_donor_variant,,ENST00000589877,;SMAD2,splice_donor_variant,,ENST00000591214,;SMAD2,upstream_gene_variant,,ENST00000586487,; C ENSG00000175387 ENST00000262160 Transcript splice_donor_variant 1 -1 SMAD2 HGNC HGNC:6768 protein_coding YES CCDS11934.1 ENSP00000262160 Q15796 Q53XR6 UPI0000032EE7 NM_005901.5 2/10 HIGH 1 SNV 1 1 PASS TAC . . 47896519 SMAD2 . GRCh38 chr18 47896521 47896521 + Missense_Mutation SNP C C A novel 7316-2751 BS_RB3PE7G3 C C c.236G>T p.Ser79Ile p.S79I ENST00000262160 2/11 61 44 16 42 42 0 SMAD2,missense_variant,p.Ser79Ile,ENST00000262160,NM_005901.5;SMAD2,missense_variant,p.Ser79Ile,ENST00000402690,NM_001003652.3;SMAD2,missense_variant,p.Arg79Met,ENST00000356825,NM_001135937.2;SMAD2,missense_variant,p.Arg79Met,ENST00000586040,;SMAD2,missense_variant,p.Arg79Met,ENST00000591214,;SMAD2,missense_variant,p.Ser79Ile,ENST00000587269,;SMAD2,missense_variant,p.Ser79Ile,ENST00000586514,;SMAD2,missense_variant,p.Ser79Ile,ENST00000585978,;SMAD2,missense_variant,p.Ser79Ile,ENST00000587421,;SMAD2,missense_variant,p.Ser79Ile,ENST00000589877,;SMAD2,upstream_gene_variant,,ENST00000586487,; A ENSG00000175387 ENST00000262160 Transcript missense_variant,splice_region_variant 488/34526 236/1404 79/467 S/I aGc/aTc 1 -1 SMAD2 HGNC HGNC:6768 protein_coding YES CCDS11934.1 ENSP00000262160 Q15796 Q53XR6 UPI0000032EE7 NM_005901.5 deleterious_low_confidence(0.04) benign(0.099) 2/11 Gene3D:3.90.520.10,Pfam_domain:PF03165,PROSITE_profiles:PS51075,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF42,SMART_domains:SM00523,Superfamily_domains:SSF56366,cd10491 MODERATE 1 SNV 1 1 PASS CCT . . 47896521 ZNF407 . GRCh38 chr18 74634846 74634846 + Missense_Mutation SNP A A G rs755661416 7316-2751 BS_RB3PE7G3 A A c.3827A>G p.Asn1276Ser p.N1276S ENST00000299687 1/8 55 33 22 38 37 0 ZNF407,missense_variant,p.Asn1276Ser,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Asn1276Ser,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.Asn1276Ser,ENST00000582337,;ZNF407,missense_variant,p.Asn1276Ser,ENST00000309902,NM_001146190.1; G ENSG00000215421 ENST00000299687 Transcript missense_variant 3827/7948 3827/6747 1276/2248 N/S aAt/aGt rs755661416 1 1 ZNF407 HGNC HGNC:19904 protein_coding YES CCDS45885.1 ENSP00000299687 Q9C0G0 UPI0000F58ED1 NM_017757.2 tolerated(0.12) benign(0.003) 1/8 hmmpanther:PTHR45148 MODERATE 1 SNV 1 PASS AAT . . 4.077e-06 3.254e-05 74634846 PLIN5 . GRCh38 chr19 4531626 4531626 + Splice_Site SNP C C T rs767064292 7316-2751 BS_RB3PE7G3 C C c.256+1G>A p.X86_splice ENST00000381848 50 41 9 48 47 0 PLIN5,splice_donor_variant,,ENST00000381848,NM_001013706.2;LRG1,downstream_gene_variant,,ENST00000306390,NM_052972.2;PLIN5,downstream_gene_variant,,ENST00000586133,;PLIN5,downstream_gene_variant,,ENST00000592610,;PLIN5,splice_donor_variant,,ENST00000588887,;AC011498.4,splice_donor_variant,,ENST00000586020,;PLIN5,splice_donor_variant,,ENST00000590350,;,regulatory_region_variant,,ENSR00000106220,; T ENSG00000214456 ENST00000381848 Transcript splice_donor_variant rs767064292 1 -1 PLIN5 HGNC HGNC:33196 protein_coding YES CCDS42473.1 ENSP00000371272 Q00G26 UPI00001D821D NM_001013706.2 3/7 HIGH 1 SNV 1 PASS ACG . . 0.0003103 4.552e-05 0.0001429 0.0009165 4.501e-05 0.00121 4531626 SMARCA4 . GRCh38 chr19 11027873 11027873 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.3305T>C p.Phe1102Ser p.F1102S ENST00000344626 24/35 64 49 15 42 42 0 SMARCA4,missense_variant,p.Phe1102Ser,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000644737,;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000646693,NM_001128849.1;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000590574,;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000642726,;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000642628,;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000643549,;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000646510,;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000646484,NM_001128847.1;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000643296,NM_001128845.1;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000647230,;SMARCA4,missense_variant,p.Phe1166Ser,ENST00000413806,;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000450717,;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000645460,NM_001128848.1;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000444061,;SMARCA4,missense_variant,p.Phe1060Ser,ENST00000591545,;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000589677,NM_001128846.1;SMARCA4,missense_variant,p.Phe1102Ser,ENST00000541122,;SMARCA4,missense_variant,p.Phe907Ser,ENST00000643995,;SMARCA4,missense_variant,p.Phe651Ser,ENST00000644963,;SMARCA4,missense_variant,p.Phe621Ser,ENST00000643208,;SMARCA4,missense_variant,p.Phe678Ser,ENST00000644065,;SMARCA4,missense_variant,p.Phe597Ser,ENST00000642350,;SMARCA4,missense_variant,p.Phe536Ser,ENST00000646746,;SMARCA4,missense_variant,p.Phe554Ser,ENST00000643857,;SMARCA4,missense_variant,p.Phe553Ser,ENST00000647268,;SMARCA4,missense_variant,p.Phe551Ser,ENST00000646183,;SMARCA4,missense_variant,p.Phe531Ser,ENST00000643534,;SMARCA4,missense_variant,p.Phe223Ser,ENST00000642508,;SMARCA4,upstream_gene_variant,,ENST00000645236,;SMARCA4,downstream_gene_variant,,ENST00000646513,;SMARCA4,downstream_gene_variant,,ENST00000586122,;SMARCA4,missense_variant,p.Phe693Ser,ENST00000644327,;SMARCA4,missense_variant,p.Phe598Ser,ENST00000645061,;SMARCA4,3_prime_UTR_variant,,ENST00000644290,;SMARCA4,3_prime_UTR_variant,,ENST00000645648,;SMARCA4,3_prime_UTR_variant,,ENST00000646593,;SMARCA4,3_prime_UTR_variant,,ENST00000646236,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000644267,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,downstream_gene_variant,,ENST00000587988,; C ENSG00000127616 ENST00000344626 Transcript missense_variant 3686/5791 3305/4944 1102/1647 F/S tTc/tCc 1 1 SMARCA4 HGNC HGNC:11100 protein_coding YES CCDS12253.1 ENSP00000343896 P51532 A7E2E1 UPI000006F973 NM_003072.3 deleterious(0) probably_damaging(0.984) 24/35 Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Superfamily_domains:SSF52540,cd00079 MODERATE 1 SNV 1 1 PASS TTC . . 11027873 C19orf12 . GRCh38 chr19 29702968 29702968 + Missense_Mutation SNP A A C novel 7316-2751 BS_RB3PE7G3 A A c.203T>G p.Val68Gly p.V68G ENST00000392278 3/3 52 43 5 34 34 0 C19orf12,missense_variant,p.Val57Gly,ENST00000614091,NM_001256047.1;C19orf12,missense_variant,p.Val57Gly,ENST00000323670,NM_031448.4;C19orf12,missense_variant,p.Val57Gly,ENST00000592153,NM_001256046.1;C19orf12,missense_variant,p.Val68Gly,ENST00000392278,NM_001031726.3;C19orf12,missense_variant,p.Val57Gly,ENST00000591243,;C19orf12,5_prime_UTR_variant,,ENST00000623113,NM_001282929.1;C19orf12,5_prime_UTR_variant,,ENST00000392276,NM_001282930.1,NM_001282931.1;C19orf12,non_coding_transcript_exon_variant,,ENST00000392275,;C19orf12,3_prime_UTR_variant,,ENST00000342680,; C ENSG00000131943 ENST00000392278 Transcript missense_variant 330/895 203/459 68/152 V/G gTc/gGc 1 -1 C19orf12 HGNC HGNC:25443 protein_coding YES CCDS42542.1 ENSP00000376103 Q9NSK7 UPI0000DB2738 NM_001031726.3 deleterious(0) possibly_damaging(0.861) 3/3 hmmpanther:PTHR31493,Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS GAC . . 29702968 FOXA2 . GRCh38 chr20 22583115 22583115 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.127A>G p.Met43Val p.M43V ENST00000419308 2/2 52 34 18 53 52 0 FOXA2,missense_variant,p.Met43Val,ENST00000419308,NM_021784.4;FOXA2,missense_variant,p.Met37Val,ENST00000377115,NM_153675.2;LINC01384,downstream_gene_variant,,ENST00000422494,;LINC00261,upstream_gene_variant,,ENST00000564492,;AL121722.1,intron_variant,,ENST00000638550,;,regulatory_region_variant,,ENSR00000135561,; C ENSG00000125798 ENST00000419308 Transcript missense_variant 312/2422 127/1392 43/463 M/V Atg/Gtg 1 -1 FOXA2 HGNC HGNC:5022 protein_coding YES CCDS46585.1 ENSP00000400341 Q9Y261 B0ZTD4 UPI000040F9A0 NM_021784.4 tolerated(0.08) possibly_damaging(0.577) 2/2 Pfam_domain:PF08430,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF167,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATC . . 22583115 DSN1 . GRCh38 chr20 36758133 36758140 + Frame_Shift_Del DEL GATCCCAA GATCCCAA - novel 7316-2751 BS_RB3PE7G3 GATCCCAA GATCCCAA c.672_679del p.Trp225AlafsTer10 p.W225Afs*10 ENST00000426836 8/11 62 43 18 34 33 0 DSN1,frameshift_variant,p.Trp225AlafsTer10,ENST00000426836,NM_024918.3,NM_001145316.1;DSN1,frameshift_variant,p.Trp225AlafsTer10,ENST00000373750,NM_001145315.1;DSN1,frameshift_variant,p.Trp209AlafsTer10,ENST00000448110,NM_001145318.1;DSN1,frameshift_variant,p.Trp153AlafsTer10,ENST00000373740,;DSN1,frameshift_variant,p.Trp118AlafsTer10,ENST00000373734,NM_001145317.1;DSN1,frameshift_variant,p.Trp225AlafsTer10,ENST00000447406,;DSN1,frameshift_variant,p.Trp125AlafsTer10,ENST00000438549,;DSN1,non_coding_transcript_exon_variant,,ENST00000473615,;DSN1,non_coding_transcript_exon_variant,,ENST00000492703,;DSN1,non_coding_transcript_exon_variant,,ENST00000480153,;,regulatory_region_variant,,ENSR00000136735,; - ENSG00000149636 ENST00000426836 Transcript frameshift_variant 1045-1052/2441 672-679/1071 224-227/356 TWDQ/TX acTTGGGATCag/acag 1 -1 DSN1 HGNC HGNC:16165 protein_coding YES CCDS13286.1 ENSP00000389810 Q9H410 UPI0000128621 NM_024918.3,NM_001145316.1 8/11 hmmpanther:PTHR14778,Pfam_domain:PF08202 HIGH 1 deletion 2 PASS CTGATCCCAAG . . 36758132 DSN1 . GRCh38 chr20 36758142 36758142 + Missense_Mutation SNP T T G novel 7316-2751 BS_RB3PE7G3 T T c.670A>C p.Thr224Pro p.T224P ENST00000426836 8/11 61 43 18 31 30 0 DSN1,missense_variant,p.Thr224Pro,ENST00000426836,NM_024918.3,NM_001145316.1;DSN1,missense_variant,p.Thr224Pro,ENST00000373750,NM_001145315.1;DSN1,missense_variant,p.Thr208Pro,ENST00000448110,NM_001145318.1;DSN1,missense_variant,p.Thr152Pro,ENST00000373740,;DSN1,missense_variant,p.Thr117Pro,ENST00000373734,NM_001145317.1;DSN1,missense_variant,p.Thr224Pro,ENST00000447406,;DSN1,missense_variant,p.Thr124Pro,ENST00000438549,;DSN1,non_coding_transcript_exon_variant,,ENST00000473615,;DSN1,non_coding_transcript_exon_variant,,ENST00000492703,;DSN1,non_coding_transcript_exon_variant,,ENST00000480153,;,regulatory_region_variant,,ENSR00000136735,; G ENSG00000149636 ENST00000426836 Transcript missense_variant 1043/2441 670/1071 224/356 T/P Act/Cct 1 -1 DSN1 HGNC HGNC:16165 protein_coding YES CCDS13286.1 ENSP00000389810 Q9H410 UPI0000128621 NM_024918.3,NM_001145316.1 deleterious(0.01) benign(0.398) 8/11 hmmpanther:PTHR14778,Pfam_domain:PF08202 MODERATE 1 SNV 2 PASS GTC . . 36758142 BRWD1 . GRCh38 chr21 39210000 39210000 + Missense_Mutation SNP A A G novel 7316-2751 BS_RB3PE7G3 A A c.4192T>C p.Ser1398Pro p.S1398P ENST00000333229 36/42 89 83 5 35 34 0 BRWD1,missense_variant,p.Ser1398Pro,ENST00000342449,NM_033656.3;BRWD1,missense_variant,p.Ser1398Pro,ENST00000333229,NM_018963.4;BRWD1,missense_variant,p.Ser1398Pro,ENST00000380800,;BRWD1,missense_variant,p.Ser336Pro,ENST00000424441,;BRWD1,3_prime_UTR_variant,,ENST00000446924,;BRWD1,non_coding_transcript_exon_variant,,ENST00000473813,; G ENSG00000185658 ENST00000333229 Transcript missense_variant 4520/10141 4192/6963 1398/2320 S/P Tca/Cca 1 -1 BRWD1 HGNC HGNC:12760 protein_coding YES CCDS13662.1 ENSP00000330753 Q9NSI6 UPI0000163C12 NM_018963.4 deleterious(0) probably_damaging(0.999) 36/42 cd05496,Gene3D:1.20.920.10,Pfam_domain:PF00439,SMART_domains:SM00297,Superfamily_domains:SSF47370,PROSITE_profiles:PS50014,hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF26,Prints_domain:PR00503 MODERATE 1 SNV 1 PASS GAT . . 39210000 IFT27 . GRCh38 chr22 36764030 36764030 + Missense_Mutation SNP T T C novel 7316-2751 BS_RB3PE7G3 T T c.241A>G p.Ser81Gly p.S81G ENST00000433985 5/7 57 48 7 35 35 0 IFT27,missense_variant,p.Ser80Gly,ENST00000340630,NM_006860.4;IFT27,missense_variant,p.Ser81Gly,ENST00000433985,NM_001177701.2;IFT27,missense_variant,p.Ser120Gly,ENST00000417951,;IFT27,missense_variant,p.Ser40Gly,ENST00000440696,;IFT27,missense_variant,p.Ser80Gly,ENST00000430701,;IFT27,upstream_gene_variant,,ENST00000474616,;IFT27,upstream_gene_variant,,ENST00000495987,;IFT27,missense_variant,p.Ser56Gly,ENST00000415653,;IFT27,non_coding_transcript_exon_variant,,ENST00000471809,;IFT27,non_coding_transcript_exon_variant,,ENST00000495555,;IFT27,downstream_gene_variant,,ENST00000465023,; C ENSG00000100360 ENST00000433985 Transcript missense_variant 667/1095 241/561 81/186 S/G Agt/Ggt 1 -1 IFT27 HGNC HGNC:18626 protein_coding YES CCDS54523.1 ENSP00000393541 Q9BW83 UPI000013314C NM_001177701.2 tolerated(0.5) benign(0.001) 5/7 PROSITE_profiles:PS51419,cd04101,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF547,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 1 PASS CTC . . 36764030 CENPI . GRCh38 chrX 101162855 101162855 + Nonsense_Mutation SNP T T A novel 7316-2751 BS_RB3PE7G3 T T c.2159T>A p.Leu720Ter p.L720* ENST00000372927 21/21 65 53 10 43 42 0 CENPI,stop_gained,p.Leu720Ter,ENST00000372927,;CENPI,stop_gained,p.Leu720Ter,ENST00000423383,NM_006733.3,NM_001318521.1; A ENSG00000102384 ENST00000372927 Transcript stop_gained 2436/3262 2159/2271 720/756 L/* tTg/tAg 1 1 CENPI HGNC HGNC:3968 protein_coding YES CCDS14479.1 ENSP00000362018 Q92674 A0A024RCG4 UPI000004A007 21/21 hmmpanther:PTHR44650 HIGH 1 SNV 5 PASS TTG . . 101162855 MT-ND5 . GRCh38 chrM 12418 12418 + Frame_Shift_Del DEL A A - novel 7316-2751 BS_RB3PE7G3 A A c.89del p.Asn30ThrfsTer7 p.N30Tfs*7 ENST00000361567 1/1 22177 18674 1520 3459 3234 8 MT-ND5,frameshift_variant,p.Asn30ThrfsTer7,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339370,; - ENSG00000198786 ENST00000361567 Transcript frameshift_variant 82/1812 82/1812 28/603 K/X Aaa/aa 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974 HIGH 1 deletion 7 1 PASS ACAA . . 12417 DLGAP3 . GRCh38 chr1 34867048 34867048 + Splice_Region SNP C C T novel 7316-3765 BS_K4XGEGW0 C C c.2721G>A p.Lys907= p.K907= ENST00000373347 11/12 90 67 22 32 31 0 DLGAP3,splice_region_variant,p.Lys907=,ENST00000373347,NM_001080418.2;DLGAP3,splice_region_variant,p.Lys907=,ENST00000235180,;,regulatory_region_variant,,ENSR00000004618,; T ENSG00000116544 ENST00000373347 Transcript splice_region_variant,synonymous_variant 2990/3856 2721/2940 907/979 K aaG/aaA 1 -1 DLGAP3 HGNC HGNC:30368 protein_coding YES CCDS30670.1 ENSP00000362444 O95886 UPI00003D4D81 NM_001080418.2 11/12 Pfam_domain:PF03359,hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF4,Low_complexity_(Seg):seg LOW 1 SNV 5 PASS CCT . . 34867048 PRPF3 . GRCh38 chr1 150344173 150344173 + Missense_Mutation SNP A A T novel 7316-3765 BS_K4XGEGW0 A A c.1438A>T p.Asn480Tyr p.N480Y ENST00000324862 11/16 86 60 24 27 26 0 PRPF3,missense_variant,p.Asn480Tyr,ENST00000324862,NM_004698.2;PRPF3,non_coding_transcript_exon_variant,,ENST00000467329,;PRPF3,non_coding_transcript_exon_variant,,ENST00000493553,;PRPF3,upstream_gene_variant,,ENST00000470824,;PRPF3,upstream_gene_variant,,ENST00000476970,; T ENSG00000117360 ENST00000324862 Transcript missense_variant 1603/2433 1438/2052 480/683 N/Y Aat/Tat 1 1 PRPF3 HGNC HGNC:17348 protein_coding YES CCDS951.1 ENSP00000315379 O43395 UPI00000729AA NM_004698.2 deleterious(0) probably_damaging(1) 11/16 Pfam_domain:PF08572,hmmpanther:PTHR14212 MODERATE 1 SNV 1 1 PASS TAA . . 150344173 TCHH . GRCh38 chr1 152110171 152110171 + Missense_Mutation SNP A A G rs1473961394 7316-3765 BS_K4XGEGW0 A A c.3046T>C p.Trp1016Arg p.W1016R ENST00000614923 3/3 83 54 16 20 14 0 TCHH,missense_variant,p.Trp1016Arg,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Trp1016Arg,ENST00000368804,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 3141/6995 3046/5832 1016/1943 W/R Tgg/Cgg rs1473961394,COSM230875 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.95) benign(0) 3/3 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS CAC . . 5.619e-05 8.096e-05 3.807e-05 0.0002422 6.96e-05 152110171 ERVMER61-1 . GRCh38 chr1 187073026 187073026 + Splice_Site SNP T T G rs191143625 7316-3765 BS_K4XGEGW0 T T n.512+2T>G ENST00000609113 107 80 19 18 17 0 ERVMER61-1,splice_donor_variant,,ENST00000609113,;ERVMER61-1,splice_donor_variant,,ENST00000643891,;ERVMER61-1,splice_donor_variant,,ENST00000645691,;,regulatory_region_variant,,ENSR00000017322,; G ENSG00000230426 ENST00000609113 Transcript splice_donor_variant,non_coding_transcript_variant rs191143625 1 1 ERVMER61-1 HGNC HGNC:27919 lincRNA 1/4 0.0457 0.1097 0.0317 0.0446 0.0109 0.0061 HIGH SNV PASS GTG . . 187073026 FCAMR . GRCh38 chr1 206960939 206960939 + Missense_Mutation SNP G G T novel 7316-3765 BS_K4XGEGW0 G G c.937C>A p.Pro313Thr p.P313T ENST00000324852 6/8 95 78 16 30 30 0 FCAMR,missense_variant,p.Pro313Thr,ENST00000324852,NM_001170631.1;FCAMR,intron_variant,,ENST00000400962,NM_001122979.2,NM_032029.4;FCAMR,intron_variant,,ENST00000450945,;FCAMR,upstream_gene_variant,,ENST00000486178,;FCAMR,downstream_gene_variant,,ENST00000487149,;FCAMR,downstream_gene_variant,,ENST00000488345,;FCAMR,3_prime_UTR_variant,,ENST00000324863,; T ENSG00000162897 ENST00000324852 Transcript missense_variant 1412/2605 937/1734 313/577 P/T Cct/Act 1 -1 FCAMR HGNC HGNC:24692 protein_coding YES CCDS53468.1 ENSP00000316491 A0A0B4J1S2 UPI0000EE5E27 NM_001170631.1 tolerated(0.14) benign(0.003) 6/8 mobidb-lite,hmmpanther:PTHR11860:SF49,hmmpanther:PTHR11860 MODERATE 1 SNV 2 PASS GGT . . 206960939 OR2M7 . GRCh38 chr1 248324378 248324378 + Missense_Mutation SNP C C T novel 7316-3765 BS_K4XGEGW0 C C c.191G>A p.Ser64Asn p.S64N ENST00000317965 1/1 69 51 18 42 41 0 OR2M7,missense_variant,p.Ser64Asn,ENST00000317965,NM_001004691.1; T ENSG00000177186 ENST00000317965 Transcript missense_variant 191/939 191/939 64/312 S/N aGc/aAc 1 -1 OR2M7 HGNC HGNC:19594 protein_coding YES CCDS31111.1 ENSP00000324557 Q8NG81 A0A126GVZ1 UPI000004B236 NM_001004691.1 deleterious(0.03) possibly_damaging(0.881) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF314,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15421,Low_complexity_(Seg):seg MODERATE 1 SNV PASS GCT . . 248324378 FHL2 . GRCh38 chr2 105367691 105367691 + Missense_Mutation SNP A A T novel 7316-3765 BS_K4XGEGW0 A A c.380T>A p.Phe127Tyr p.F127Y ENST00000409807 4/6 62 50 12 27 27 0 FHL2,missense_variant,p.Phe243Tyr,ENST00000409177,;FHL2,missense_variant,p.Phe237Tyr,ENST00000344213,;FHL2,missense_variant,p.Phe127Tyr,ENST00000409807,;FHL2,missense_variant,p.Ser69Thr,ENST00000358129,;FHL2,missense_variant,p.Phe127Tyr,ENST00000393353,NM_001450.3;FHL2,missense_variant,p.Phe127Tyr,ENST00000322142,NM_201555.1,NM_001318899.1,NM_001318895.1,NM_001039492.2,NM_001318898.1;FHL2,missense_variant,p.Phe127Tyr,ENST00000393352,NM_001318897.1,NM_001318894.1,NM_201557.3;FHL2,missense_variant,p.Phe127Tyr,ENST00000408995,NM_001318896.1;AC108058.1,intron_variant,,ENST00000457290,;FHL2,3_prime_UTR_variant,,ENST00000530340,;FHL2,3_prime_UTR_variant,,ENST00000452732,; T ENSG00000115641 ENST00000409807 Transcript missense_variant 715/1601 380/840 127/279 F/Y tTc/tAc 1 -1 FHL2 HGNC HGNC:3703 protein_coding YES CCDS2070.1 ENSP00000386665 Q14192 Q6I9R8 UPI0000140D45 deleterious(0) probably_damaging(1) 4/6 Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24205,hmmpanther:PTHR24205:SF3,SMART_domains:SM00132,Superfamily_domains:SSF57716,cd09426 MODERATE 1 SNV 1 1 PASS GAA . . 105367691 CFAP221 . GRCh38 chr2 119587195 119587195 + Nonsense_Mutation SNP C C T novel 7316-3765 BS_K4XGEGW0 C C c.604C>T p.Gln202Ter p.Q202* ENST00000413369 7/24 93 58 33 23 23 0 CFAP221,stop_gained,p.Gln202Ter,ENST00000413369,NM_001271049.1;CFAP221,stop_gained,p.Gln23Ter,ENST00000594141,;CFAP221,stop_gained,p.Gln202Ter,ENST00000295220,;CFAP221,3_prime_UTR_variant,,ENST00000413057,;CFAP221,non_coding_transcript_exon_variant,,ENST00000475569,;CFAP221,non_coding_transcript_exon_variant,,ENST00000488358,; T ENSG00000163075 ENST00000413369 Transcript stop_gained 691/2801 604/2523 202/840 Q/* Caa/Taa 1 1 CFAP221 HGNC HGNC:33720 protein_coding YES CCDS33282.2 ENSP00000393222 Q4G0U5 UPI0001D322F9 NM_001271049.1 7/24 hmmpanther:PTHR23053:SF30,hmmpanther:PTHR23053,Gene3D:2.60.40.10 HIGH 1 SNV 5 PASS TCA . . 119587195 CCDC141 . GRCh38 chr2 178837273 178837273 + Missense_Mutation SNP T T A novel 7316-3765 BS_K4XGEGW0 T T c.3946A>T p.Ser1316Cys p.S1316C ENST00000443758 23/24 62 33 28 37 37 0 CCDC141,missense_variant,p.Ser1316Cys,ENST00000443758,NM_173648.3;CCDC141,missense_variant,p.Ser760Cys,ENST00000343876,;CCDC141,upstream_gene_variant,,ENST00000472828,; A ENSG00000163492 ENST00000443758 Transcript missense_variant 4068/9131 3946/4593 1316/1530 S/C Agt/Tgt 1 -1 CCDC141 HGNC HGNC:26821 protein_coding ENSP00000390190 E7ERF0 UPI0000EE2F1C NM_173648.3 deleterious(0.02) benign(0.031) 23/24 hmmpanther:PTHR45219 MODERATE SNV 5 1 PASS CTG . . 178837273 FSIP2 . GRCh38 chr2 185756198 185756198 + Missense_Mutation SNP C C T novel 7316-3765 BS_K4XGEGW0 C C c.998C>T p.Pro333Leu p.P333L ENST00000424728 9/23 71 61 10 31 31 0 FSIP2,missense_variant,p.Pro333Leu,ENST00000424728,NM_173651.3;FSIP2,intron_variant,,ENST00000429412,; T ENSG00000188738 ENST00000424728 Transcript missense_variant 998/20788 998/20724 333/6907 P/L cCa/cTa 1 1 FSIP2 HGNC HGNC:21675 protein_coding YES CCDS54426.2 ENSP00000401306 Q5CZC0 UPI000198D023 NM_173651.3 benign(0.027) 9/23 hmmpanther:PTHR21856 MODERATE 1 SNV 5 PASS CCA . . 185756198 NAB1 . GRCh38 chr2 190659322 190659322 + Missense_Mutation SNP T T A novel 7316-3765 BS_K4XGEGW0 T T c.146T>A p.Phe49Tyr p.F49Y ENST00000337386 4/10 62 39 22 24 24 0 NAB1,missense_variant,p.Phe49Tyr,ENST00000337386,NM_005966.3;NAB1,missense_variant,p.Phe49Tyr,ENST00000409641,NM_001321314.1;NAB1,missense_variant,p.Phe49Tyr,ENST00000409581,NM_001321312.1,NM_001321313.1;NAB1,missense_variant,p.Phe49Tyr,ENST00000448811,;NAB1,missense_variant,p.Phe49Tyr,ENST00000416973,;NAB1,missense_variant,p.Phe49Tyr,ENST00000426601,;NAB1,missense_variant,p.Phe49Tyr,ENST00000423376,;NAB1,5_prime_UTR_variant,,ENST00000423076,;NAB1,upstream_gene_variant,,ENST00000434473,NM_001321315.1;NAB1,upstream_gene_variant,,ENST00000484774,; A ENSG00000138386 ENST00000337386 Transcript missense_variant 607/4358 146/1464 49/487 F/Y tTt/tAt 1 1 NAB1 HGNC HGNC:7626 protein_coding YES CCDS2307.1 ENSP00000336894 Q13506 UPI0000001C43 NM_005966.3 deleterious(0) probably_damaging(0.999) 4/10 Gene3D:1.10.150.50,blastprodom:PD342192,Pfam_domain:PF04904,hmmpanther:PTHR12623,hmmpanther:PTHR12623:SF9 MODERATE 1 SNV 1 PASS TTT . . 190659322 AC010149.1 . GRCh38 chr2 230551102 230551102 + Splice_Site SNP C C A novel 7316-3765 BS_K4XGEGW0 C C n.438-1G>T ENST00000455357 59 36 21 22 22 0 AC010149.1,splice_acceptor_variant,,ENST00000414539,;AC010149.1,splice_acceptor_variant,,ENST00000455357,; A ENSG00000235419 ENST00000455357 Transcript splice_acceptor_variant,non_coding_transcript_variant 1 -1 AC010149.1 Clone_based_ensembl_gene antisense YES 5/6 HIGH 1 SNV 4 PASS TCT . . 230551102 SAG . GRCh38 chr2 233338701 233338701 + Missense_Mutation SNP G G A rs775968495 7316-3765 BS_K4XGEGW0 G G c.970G>A p.Val324Ile p.V324I ENST00000409110 12/16 67 54 12 24 24 0 SAG,missense_variant,p.Val324Ile,ENST00000409110,NM_000541.4;SAG,upstream_gene_variant,,ENST00000492629,;SAG,non_coding_transcript_exon_variant,,ENST00000476500,;SAG,non_coding_transcript_exon_variant,,ENST00000469222,;SAG,non_coding_transcript_exon_variant,,ENST00000471884,;SAG,non_coding_transcript_exon_variant,,ENST00000412969,;SAG,non_coding_transcript_exon_variant,,ENST00000474220,;SAG,non_coding_transcript_exon_variant,,ENST00000483231,;SAG,non_coding_transcript_exon_variant,,ENST00000473771,; A ENSG00000130561 ENST00000409110 Transcript missense_variant 1200/1591 970/1218 324/405 V/I Gtc/Atc rs775968495,COSM4092474,COSM4092473 1 1 SAG HGNC HGNC:10521 protein_coding YES CCDS46545.1 ENSP00000386444 P10523 UPI000013CD8D NM_000541.4 tolerated(0.32) benign(0.013) 12/16 Gene3D:2.60.40.640,Pfam_domain:PF02752,hmmpanther:PTHR11792,hmmpanther:PTHR11792:SF15,SMART_domains:SM01017,Superfamily_domains:SSF81296 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS CGT . . 3.655e-05 6.539e-05 5.956e-05 0.000116 2.686e-05 3.249e-05 233338701 OXNAD1 . GRCh38 chr3 16301660 16301660 + Missense_Mutation SNP G G C novel 7316-3765 BS_K4XGEGW0 G G c.467G>C p.Gly156Ala p.G156A ENST00000285083 7/9 71 40 30 31 31 0 OXNAD1,missense_variant,p.Gly174Ala,ENST00000627468,NM_001330670.2;OXNAD1,missense_variant,p.Gly156Ala,ENST00000285083,NM_138381.3;OXNAD1,missense_variant,p.Gly156Ala,ENST00000606098,;OXNAD1,missense_variant,p.Gly156Ala,ENST00000605932,;OXNAD1,missense_variant,p.Gly174Ala,ENST00000435829,;OXNAD1,3_prime_UTR_variant,,ENST00000442255,;OXNAD1,3_prime_UTR_variant,,ENST00000452581,;,regulatory_region_variant,,ENSR00000149207,; C ENSG00000154814 ENST00000285083 Transcript missense_variant 932/3929 467/939 156/312 G/A gGt/gCt 1 1 OXNAD1 HGNC HGNC:25128 protein_coding YES CCDS2630.1 ENSP00000285083 Q96HP4 UPI0000071465 NM_138381.3 deleterious(0) probably_damaging(0.998) 7/9 Gene3D:2.40.30.10,PROSITE_profiles:PS51384,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF104,cd00322 MODERATE 1 SNV 1 PASS GGT . . 16301660 RNF123 . GRCh38 chr3 49716166 49716166 + Missense_Mutation SNP T T G novel 7316-3765 BS_K4XGEGW0 T T c.3404T>G p.Leu1135Arg p.L1135R ENST00000327697 34/39 58 31 26 22 22 0 RNF123,missense_variant,p.Leu1135Arg,ENST00000327697,NM_022064.4;RNF123,missense_variant,p.Leu247Arg,ENST00000433785,;GMPPB,downstream_gene_variant,,ENST00000308375,NM_013334.3;AMIGO3,downstream_gene_variant,,ENST00000320431,NM_198722.2;RNF123,downstream_gene_variant,,ENST00000432042,;GMPPB,downstream_gene_variant,,ENST00000480687,;RNF123,upstream_gene_variant,,ENST00000497099,;RNF123,3_prime_UTR_variant,,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000444689,;RNF123,downstream_gene_variant,,ENST00000469978,;RNF123,upstream_gene_variant,,ENST00000498376,; G ENSG00000164068 ENST00000327697 Transcript missense_variant 3548/4311 3404/3945 1135/1314 L/R cTa/cGa 1 1 RNF123 HGNC HGNC:21148 protein_coding YES CCDS33758.1 ENSP00000328287 Q5XPI4 UPI00001D6A07 NM_022064.4 deleterious(0) probably_damaging(0.996) 34/39 Gene3D:1.25.10.10,hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1 MODERATE 1 SNV 1 PASS CTA . . 49716166 ITIH1 . GRCh38 chr3 52784379 52784379 + Missense_Mutation SNP C C A rs1012774740 7316-3765 BS_K4XGEGW0 C C c.1309C>A p.His437Asn p.H437N ENST00000273283 11/22 63 37 25 37 37 0 ITIH1,missense_variant,p.His437Asn,ENST00000273283,NM_001166434.2,NM_002215.3;ITIH1,missense_variant,p.His149Asn,ENST00000537050,NM_001166436.2,NM_001166435.2;ITIH1,upstream_gene_variant,,ENST00000405128,;ITIH1,upstream_gene_variant,,ENST00000428133,;ITIH1,non_coding_transcript_exon_variant,,ENST00000628722,;ITIH1,downstream_gene_variant,,ENST00000478667,;ITIH1,downstream_gene_variant,,ENST00000487686,;ITIH1,downstream_gene_variant,,ENST00000480409,;ITIH1,upstream_gene_variant,,ENST00000482836,;ITIH1,upstream_gene_variant,,ENST00000484844,;ITIH1,downstream_gene_variant,,ENST00000494603,; A ENSG00000055957 ENST00000273283 Transcript missense_variant 1333/2911 1309/2736 437/911 H/N Cac/Aac rs1012774740 1 1 ITIH1 HGNC HGNC:6166 protein_coding YES CCDS2864.1 ENSP00000273283 P19827 UPI000012DA1C NM_001166434.2,NM_002215.3 tolerated(0.4) benign(0.003) 11/22 Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF106,SMART_domains:SM00327,Superfamily_domains:SSF53300,cd01461 MODERATE 1 SNV 1 PASS CCA . . 1.218e-05 6.534e-05 1.791e-05 52784379 DNAJB8 . GRCh38 chr3 128462672 128462672 + Missense_Mutation SNP G G T novel 7316-3765 BS_K4XGEGW0 G G c.574C>A p.His192Asn p.H192N ENST00000469083 2/2 61 38 12 30 30 0 DNAJB8,missense_variant,p.His192Asn,ENST00000469083,;DNAJB8,missense_variant,p.His192Asn,ENST00000319153,NM_153330.4;DNAJB8-AS1,upstream_gene_variant,,ENST00000471626,; T ENSG00000179407 ENST00000469083 Transcript missense_variant 3132/3365 574/699 192/232 H/N Cac/Aac 1 -1 DNAJB8 HGNC HGNC:23699 protein_coding YES CCDS3048.1 ENSP00000417418 Q8NHS0 A0A140VJI2 UPI0000129437 deleterious(0.01) benign(0.015) 2/2 hmmpanther:PTHR43948,hmmpanther:PTHR43948:SF9 MODERATE 1 SNV 2 PASS TGG . . 128462672 DNAJB8 . GRCh38 chr3 128462676 128462676 + Frame_Shift_Del DEL A A - novel 7316-3765 BS_K4XGEGW0 A A c.570del p.Asn190LysfsTer29 p.N190Kfs*29 ENST00000469083 2/2 62 40 15 27 27 0 DNAJB8,frameshift_variant,p.Asn190LysfsTer29,ENST00000469083,;DNAJB8,frameshift_variant,p.Asn190LysfsTer29,ENST00000319153,NM_153330.4;DNAJB8-AS1,upstream_gene_variant,,ENST00000471626,; - ENSG00000179407 ENST00000469083 Transcript frameshift_variant 3128/3365 570/699 190/232 N/X aaT/aa 1 -1 DNAJB8 HGNC HGNC:23699 protein_coding YES CCDS3048.1 ENSP00000417418 Q8NHS0 A0A140VJI2 UPI0000129437 2/2 hmmpanther:PTHR43948,hmmpanther:PTHR43948:SF9 HIGH 1 deletion 2 PASS CCAT . . 128462675 MUC4 . GRCh38 chr3 195781054 195781054 + Missense_Mutation SNP C C T rs71635074 7316-3765 BS_K4XGEGW0 C C c.10526G>A p.Gly3509Asp p.G3509D ENST00000463781 2/25 95 72 15 28 25 0 MUC4,missense_variant,p.Gly3509Asp,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Gly3509Asp,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Gly3509Asp,ENST00000478156,;MUC4,missense_variant,p.Gly3509Asp,ENST00000466475,;MUC4,missense_variant,p.Gly3509Asp,ENST00000477756,;MUC4,missense_variant,p.Gly3509Asp,ENST00000477086,;MUC4,missense_variant,p.Gly3509Asp,ENST00000480843,;MUC4,missense_variant,p.Gly3509Asp,ENST00000462323,;MUC4,missense_variant,p.Gly3509Asp,ENST00000470451,;MUC4,missense_variant,p.Gly3509Asp,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 10986/17110 10526/16239 3509/5412 G/D gGc/gAc rs71635074,COSM1136992 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(1) probably_damaging(0.934) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCC . . 0.02341 0.08527 0.009442 0.01833 0.03777 0.02667 0.02458 0.02258 0.01173 195781054 ADGRL3 . GRCh38 chr4 61733104 61733104 + Missense_Mutation SNP T T A novel 7316-3765 BS_K4XGEGW0 T T c.745T>A p.Tyr249Asn p.Y249N ENST00000514591 7/25 73 68 5 27 26 0 ADGRL3,missense_variant,p.Tyr249Asn,ENST00000512091,NM_001322246.1;ADGRL3,missense_variant,p.Tyr249Asn,ENST00000514591,NM_015236.5;ADGRL3,missense_variant,p.Tyr317Asn,ENST00000509896,;ADGRL3,missense_variant,p.Tyr317Asn,ENST00000511324,;ADGRL3,missense_variant,p.Tyr317Asn,ENST00000508693,;ADGRL3,missense_variant,p.Tyr317Asn,ENST00000507164,;ADGRL3,missense_variant,p.Tyr317Asn,ENST00000506720,NM_001322402.1;ADGRL3,missense_variant,p.Tyr317Asn,ENST00000506746,;ADGRL3,missense_variant,p.Tyr317Asn,ENST00000507625,;ADGRL3,missense_variant,p.Tyr249Asn,ENST00000506700,;ADGRL3,missense_variant,p.Tyr249Asn,ENST00000504896,;ADGRL3,missense_variant,p.Tyr249Asn,ENST00000514157,;ADGRL3,missense_variant,p.Tyr249Asn,ENST00000508946,;ADGRL3,missense_variant,p.Tyr249Asn,ENST00000514996,; A ENSG00000150471 ENST00000514591 Transcript missense_variant 1074/6297 745/4410 249/1469 Y/N Tac/Aac 1 1 ADGRL3 HGNC HGNC:20974 protein_coding YES CCDS54768.1 ENSP00000422533 Q9HAR2 UPI00016278EF NM_015236.5 deleterious(0) probably_damaging(0.999) 7/25 Pfam_domain:PF02191,PROSITE_profiles:PS51132,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,SMART_domains:SM00284 MODERATE 1 SNV 5 PASS TTA . . 61733104 CDS1 . GRCh38 chr4 84583499 84583499 + Missense_Mutation SNP C C A novel 7316-3765 BS_K4XGEGW0 C C c.98C>A p.Thr33Asn p.T33N ENST00000295887 1/13 55 46 8 25 24 0 CDS1,missense_variant,p.Thr33Asn,ENST00000295887,NM_001263.3;CDS1,missense_variant,p.Thr33Asn,ENST00000511298,;,regulatory_region_variant,,ENSR00000170168,; A ENSG00000163624 ENST00000295887 Transcript missense_variant 521/4461 98/1386 33/461 T/N aCc/aAc 1 1 CDS1 HGNC HGNC:1800 protein_coding YES CCDS3608.1 ENSP00000295887 Q92903 A0A024RDG8 UPI0000127453 NM_001263.3 tolerated(0.44) benign(0) 1/13 mobidb-lite,hmmpanther:PTHR13773,hmmpanther:PTHR13773:SF5,PIRSF_domain:PIRSF018269 MODERATE 1 SNV 1 PASS ACC . . 84583499 FAM160A1 . GRCh38 chr4 151588934 151588934 + Splice_Region SNP A A T novel 7316-3765 BS_K4XGEGW0 A A c.978+8A>T ENST00000435205 75 40 35 28 28 0 FAM160A1,splice_region_variant,,ENST00000435205,NM_001109977.1;FAM160A1,splice_region_variant,,ENST00000505231,; T ENSG00000164142 ENST00000435205 Transcript splice_region_variant,intron_variant 1 1 FAM160A1 HGNC HGNC:34237 protein_coding YES CCDS47146.1 ENSP00000413196 Q05DH4 UPI00015DE720 NM_001109977.1 7/13 LOW 1 SNV 5 PASS GAT . . 151588934 TIGD4 . GRCh38 chr4 152770892 152770892 + Missense_Mutation SNP T T A novel 7316-3765 BS_K4XGEGW0 T T c.113A>T p.Lys38Ile p.K38I ENST00000304337 2/2 63 53 9 33 33 0 TIGD4,missense_variant,p.Lys38Ile,ENST00000304337,NM_145720.3; A ENSG00000169989 ENST00000304337 Transcript missense_variant 934/2472 113/1539 38/512 K/I aAa/aTa 1 -1 TIGD4 HGNC HGNC:18335 protein_coding YES CCDS34079.1 ENSP00000355162 Q8IY51 UPI000013E966 NM_145720.3 deleterious(0) probably_damaging(0.993) 2/2 PROSITE_profiles:PS50960,hmmpanther:PTHR44538:SF2,hmmpanther:PTHR44538,Gene3D:1.10.10.60,Pfam_domain:PF04218,Superfamily_domains:SSF46689 MODERATE 1 SNV 1 PASS TTT . . 152770892 FGG . GRCh38 chr4 154606851 154606851 + Missense_Mutation SNP T T A novel 7316-3765 BS_K4XGEGW0 T T c.983A>T p.Lys328Met p.K328M ENST00000336098 8/9 62 56 5 32 32 0 FGG,missense_variant,p.Lys328Met,ENST00000404648,NM_000509.5;FGG,missense_variant,p.Lys328Met,ENST00000336098,NM_021870.2;FGG,missense_variant,p.Lys336Met,ENST00000407946,;FGG,missense_variant,p.Lys336Met,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000393846,;FGG,downstream_gene_variant,,ENST00000443553,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,downstream_gene_variant,,ENST00000464532,;FGG,downstream_gene_variant,,ENST00000465336,;FGG,downstream_gene_variant,,ENST00000473393,; A ENSG00000171557 ENST00000336098 Transcript missense_variant 1022/1659 983/1362 328/453 K/M aAg/aTg 1 -1 FGG HGNC HGNC:3694 protein_coding YES CCDS3788.1 ENSP00000336829 P02679 UPI000012A78D NM_021870.2 deleterious(0) probably_damaging(0.996) 8/9 PROSITE_profiles:PS51406,cd00087,hmmpanther:PTHR19143:SF338,hmmpanther:PTHR19143,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496 MODERATE 1 SNV 2 1 PASS CTT . . 154606851 WWC2 . GRCh38 chr4 183193682 183193682 + Missense_Mutation SNP G G C novel 7316-3765 BS_K4XGEGW0 G G c.215G>C p.Gly72Ala p.G72A ENST00000403733 2/23 52 45 7 30 30 0 WWC2,missense_variant,p.Gly72Ala,ENST00000403733,NM_024949.5;WWC2,missense_variant,p.Gly72Ala,ENST00000448232,;WWC2,missense_variant,p.Gly72Ala,ENST00000513834,;WWC2,missense_variant,p.Gly72Ala,ENST00000508614,;WWC2,5_prime_UTR_variant,,ENST00000427431,; C ENSG00000151718 ENST00000403733 Transcript missense_variant 414/8826 215/3579 72/1192 G/A gGt/gCt 1 1 WWC2 HGNC HGNC:24148 protein_coding YES CCDS34109.2 ENSP00000384222 Q6AWC2 UPI000022C4C2 NM_024949.5 deleterious(0) probably_damaging(1) 2/23 PROSITE_profiles:PS50020,cd00201,hmmpanther:PTHR14791:SF26,hmmpanther:PTHR14791,Pfam_domain:PF00397,Gene3D:2.20.70.10,SMART_domains:SM00456,Superfamily_domains:SSF51045 MODERATE 1 SNV 5 PASS GGT . . 183193682 SORBS2 . GRCh38 chr4 185678522 185678522 + Missense_Mutation SNP A A T novel 7316-3765 BS_K4XGEGW0 A A c.156T>A p.Asn52Lys p.N52K ENST00000355634 7/24 62 54 7 32 32 0 SORBS2,missense_variant,p.Asn52Lys,ENST00000355634,NM_001270771.1;SORBS2,missense_variant,p.Asn21Lys,ENST00000448662,NM_001145672.1;SORBS2,missense_variant,p.Asn38Lys,ENST00000449407,NM_001145670.1;SORBS2,missense_variant,p.Asn38Lys,ENST00000319471,NM_001145671.2;SORBS2,missense_variant,p.Asn52Lys,ENST00000419063,;SORBS2,missense_variant,p.Asn21Lys,ENST00000425679,;SORBS2,missense_variant,p.Asn38Lys,ENST00000415274,;SORBS2,missense_variant,p.Asn21Lys,ENST00000451958,;SORBS2,missense_variant,p.Asn38Lys,ENST00000414724,;SORBS2,missense_variant,p.Asn52Lys,ENST00000432655,;SORBS2,missense_variant,p.Asn52Lys,ENST00000421420,;SORBS2,missense_variant,p.Asn52Lys,ENST00000420158,;SORBS2,missense_variant,p.Asn38Lys,ENST00000452351,;SORBS2,missense_variant,p.Asn38Lys,ENST00000431902,;SORBS2,missense_variant,p.Asn52Lys,ENST00000457934,;SORBS2,missense_variant,p.Asn21Lys,ENST00000439049,;SORBS2,missense_variant,p.Asn38Lys,ENST00000429056,;SORBS2,missense_variant,p.Asn21Lys,ENST00000428330,;SORBS2,missense_variant,p.Asn38Lys,ENST00000435480,;SORBS2,5_prime_UTR_variant,,ENST00000284776,NM_021069.4;SORBS2,5_prime_UTR_variant,,ENST00000444771,;SORBS2,5_prime_UTR_variant,,ENST00000456596,;SORBS2,5_prime_UTR_variant,,ENST00000439914,;SORBS2,intron_variant,,ENST00000319454,;SORBS2,intron_variant,,ENST00000393523,;SORBS2,intron_variant,,ENST00000393528,NM_003603.6;SORBS2,intron_variant,,ENST00000421639,;SORBS2,intron_variant,,ENST00000430503,;SORBS2,intron_variant,,ENST00000437304,NM_001145673.1;SORBS2,intron_variant,,ENST00000444781,;SORBS2,intron_variant,,ENST00000445115,;SORBS2,intron_variant,,ENST00000445343,;SORBS2,intron_variant,,ENST00000450341,;SORBS2,intron_variant,,ENST00000451701,;SORBS2,intron_variant,,ENST00000457247,;AC108472.1,downstream_gene_variant,,ENST00000447277,;SORBS2,non_coding_transcript_exon_variant,,ENST00000493709,;SORBS2,non_coding_transcript_exon_variant,,ENST00000463104,;SORBS2,non_coding_transcript_exon_variant,,ENST00000464975,;SORBS2,non_coding_transcript_exon_variant,,ENST00000464819,;SORBS2,intron_variant,,ENST00000478249,;SORBS2,non_coding_transcript_exon_variant,,ENST00000470685,; T ENSG00000154556 ENST00000355634 Transcript missense_variant 870/4622 156/3603 52/1200 N/K aaT/aaA 1 -1 SORBS2 HGNC HGNC:24098 protein_coding YES CCDS59482.1 ENSP00000347852 O94875 UPI000198C7F0 NM_001270771.1 tolerated(0.18) benign(0.088) 7/24 hmmpanther:PTHR45043,mobidb-lite MODERATE 1 SNV 2 PASS GAT . . 185678522 POU5F2 . GRCh38 chr5 93741462 93741462 + Nonsense_Mutation SNP C C T novel 7316-3765 BS_K4XGEGW0 C C c.102G>A p.Trp34Ter p.W34* ENST00000606183 1/1 52 46 5 32 31 0 POU5F2,stop_gained,p.Trp34Ter,ENST00000606183,NM_153216.1;FAM172A,intron_variant,,ENST00000395965,NM_032042.5;FAM172A,intron_variant,,ENST00000505869,NM_001163418.1;FAM172A,intron_variant,,ENST00000509163,NM_001163417.1;FAM172A,intron_variant,,ENST00000509739,;AC108102.1,upstream_gene_variant,,ENST00000606528,;FAM172A,intron_variant,,ENST00000502503,;,regulatory_region_variant,,ENSR00000316166,; T ENSG00000248483 ENST00000606183 Transcript stop_gained 176/8418 102/987 34/328 W/* tgG/tgA 1 -1 POU5F2 HGNC HGNC:26367 protein_coding YES CCDS59489.1 ENSP00000489796 Q8N7G0 UPI0000135E4C NM_153216.1 1/1 hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF14 HIGH SNV PASS ACC . . 93741462 SLC26A8 . GRCh38 chr6 35951450 35951450 + Missense_Mutation SNP C C A novel 7316-3765 BS_K4XGEGW0 C C c.2282G>T p.Cys761Phe p.C761F ENST00000490799 18/20 62 38 24 28 27 0 SLC26A8,missense_variant,p.Cys761Phe,ENST00000490799,NM_052961.3;SLC26A8,missense_variant,p.Cys761Phe,ENST00000355574,NM_001193476.1;SLC26A8,missense_variant,p.Cys656Phe,ENST00000394602,NM_138718.2;SLC26A8,3_prime_UTR_variant,,ENST00000465492,;SLC26A8,non_coding_transcript_exon_variant,,ENST00000466805,; A ENSG00000112053 ENST00000490799 Transcript missense_variant 2636/3653 2282/2913 761/970 C/F tGt/tTt 1 -1 SLC26A8 HGNC HGNC:14468 protein_coding YES CCDS4813.1 ENSP00000417638 Q96RN1 A0A024RCV0 UPI00000739C0 NM_052961.3 deleterious(0) probably_damaging(0.987) 18/20 Gene3D:3.30.750.24,Pfam_domain:PF01740,PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF11,Superfamily_domains:SSF52091,cd07042 MODERATE 1 SNV 1 1 PASS ACA . . 35951450 DNAH8 . GRCh38 chr6 38974413 38974413 + Missense_Mutation SNP C C T rs569195029 7316-3765 BS_K4XGEGW0 C C c.12718C>T p.Arg4240Cys p.R4240C ENST00000327475 85/93 76 52 24 35 34 0 DNAH8,missense_variant,p.Arg4240Cys,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Arg4023Cys,ENST00000359357,;DNAH8,downstream_gene_variant,,ENST00000449981,; T ENSG00000124721 ENST00000327475 Transcript missense_variant 12827/14360 12718/14124 4240/4707 R/C Cgc/Tgc rs569195029,COSM187445,COSM187444 1 1 DNAH8 HGNC HGNC:2952 protein_coding YES CCDS75447.1 ENSP00000333363 A0A075B6F3 UPI000179A984 NM_001206927.1 deleterious(0) probably_damaging(0.999) 85/93 hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF03028 0.0002 0.001 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ACG . . 1.219e-05 1.792e-05 3.25e-05 38974413 MLIP-IT1 . GRCh38 chr6 54002726 54002726 + Splice_Region SNP A A T novel 7316-3765 BS_K4XGEGW0 A A n.461+7A>T ENST00000441845 82 61 21 35 33 0 MLIP,intron_variant,,ENST00000505762,;MLIP-IT1,splice_region_variant,,ENST00000441845,;MLIP-AS1,intron_variant,,ENST00000626297,;MLIP-AS1,intron_variant,,ENST00000626804,; T ENSG00000236996 ENST00000441845 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 MLIP-IT1 HGNC HGNC:41461 sense_intronic YES 3/3 LOW 1 SNV 2 PASS AAC . . 54002726 FAM83B . GRCh38 chr6 54941777 54941777 + Missense_Mutation SNP C C A 7316-3765 BS_K4XGEGW0 C C c.2806C>A p.Arg936Ser p.R936S ENST00000306858 5/5 61 38 23 33 30 0 FAM83B,missense_variant,p.Arg936Ser,ENST00000306858,NM_001010872.2;AL049555.1,upstream_gene_variant,,ENST00000562834,; A ENSG00000168143 ENST00000306858 Transcript missense_variant 2922/3167 2806/3036 936/1011 R/S Cgt/Agt COSM3411206 1 1 FAM83B HGNC HGNC:21357 protein_coding YES CCDS34479.1 ENSP00000304078 Q5T0W9 UPI00001D81EC NM_001010872.2 deleterious(0) probably_damaging(0.998) 5/5 hmmpanther:PTHR16181:SF4,hmmpanther:PTHR16181 1 MODERATE 1 SNV 1 1 PASS TCG . . 54941777 ADGRG6 . GRCh38 chr6 142393906 142393906 + Missense_Mutation SNP A A T novel 7316-3765 BS_K4XGEGW0 A A c.1372A>T p.Ser458Cys p.S458C ENST00000367609 9/25 46 40 6 25 25 0 ADGRG6,missense_variant,p.Ser458Cys,ENST00000230173,NM_020455.5;ADGRG6,missense_variant,p.Ser458Cys,ENST00000367609,NM_198569.2;ADGRG6,missense_variant,p.Ser430Cys,ENST00000367608,NM_001032395.2;ADGRG6,missense_variant,p.Ser430Cys,ENST00000296932,NM_001032394.2;ADGRG6,missense_variant,p.Ser33Cys,ENST00000508295,; T ENSG00000112414 ENST00000367609 Transcript missense_variant 1773/6887 1372/3753 458/1250 S/C Agt/Tgt 1 1 ADGRG6 HGNC HGNC:13841 protein_coding YES CCDS47489.1 ENSP00000356581 Q86SQ4 UPI000022CCE4 NM_198569.2 deleterious(0.01) benign(0.009) 9/25 hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF290 MODERATE 1 SNV 1 1 PASS GAG . . 142393906 SCAF8 . GRCh38 chr6 154773988 154773988 + Splice_Site SNP G G A novel 7316-3765 BS_K4XGEGW0 G G c.265-1G>A p.X89_splice ENST00000417268 73 62 9 32 32 0 SCAF8,splice_acceptor_variant,,ENST00000367178,NM_014892.4,NM_001286199.1;SCAF8,splice_acceptor_variant,,ENST00000367186,NM_001286189.1;SCAF8,splice_acceptor_variant,,ENST00000417268,NM_001286194.1,NM_001286188.1;SCAF8,splice_acceptor_variant,,ENST00000461219,;SCAF8,splice_acceptor_variant,,ENST00000464628,;,regulatory_region_variant,,ENSR00000205586,; A ENSG00000213079 ENST00000417268 Transcript splice_acceptor_variant 1 1 SCAF8 HGNC HGNC:20959 protein_coding YES CCDS75541.1 ENSP00000413098 A0A0A0MT33 UPI0003BD245C NM_001286194.1,NM_001286188.1 2/20 HIGH 1 SNV 2 PASS AGT . . 154773988 HOXA4 . GRCh38 chr7 27129268 27129268 + Missense_Mutation SNP T T G novel 7316-3765 BS_K4XGEGW0 T T c.920A>C p.His307Pro p.H307P ENST00000360046 2/2 77 57 11 22 20 0 HOXA4,missense_variant,p.His307Pro,ENST00000360046,;HOXA4,missense_variant,p.His307Pro,ENST00000610970,NM_002141.4;HOXA4,missense_variant,p.His307Pro,ENST00000428284,;HOXA4,missense_variant,p.His127Pro,ENST00000511914,;HOXA3,intron_variant,,ENST00000317201,;HOXA3,intron_variant,,ENST00000522788,;HOXA3,upstream_gene_variant,,ENST00000612286,NM_153631.2;HOXA-AS2,intron_variant,,ENST00000521159,;HOXA-AS2,downstream_gene_variant,,ENST00000517550,;HOXA-AS3,upstream_gene_variant,,ENST00000518848,;HOXA-AS2,downstream_gene_variant,,ENST00000521687,;AC004080.6,non_coding_transcript_exon_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000518451,;HOXA3,intron_variant,,ENST00000521401,; G ENSG00000197576 ENST00000360046 Transcript missense_variant 986/1747 920/963 307/320 H/P cAc/cCc 1 -1 HOXA4 HGNC HGNC:5105 protein_coding YES CCDS5405.1 ENSP00000353151 Q00056 UPI000013C810 deleterious_low_confidence(0.03) benign(0.133) 2/2 hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF211,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 27129268 MUC12 . GRCh38 chr7 101003657 101003657 + Missense_Mutation SNP C C G rs199993063 7316-3765 BS_K4XGEGW0 C C c.13094C>G p.Thr4365Arg p.T4365R ENST00000536621 2/12 112 93 16 32 32 0 MUC12,missense_variant,p.Thr4508Arg,ENST00000379442,;MUC12,missense_variant,p.Thr4365Arg,ENST00000536621,NM_001164462.1;,regulatory_region_variant,,ENSR00000327519,; G ENSG00000205277 ENST00000536621 Transcript missense_variant 13094/16321 13094/16008 4365/5335 T/R aCa/aGa rs199993063,COSM6536329,COSM6536328 1 1 MUC12 HGNC HGNC:7510 protein_coding YES CCDS55139.1 ENSP00000441929 Q9UKN1 UPI0001B25898 NM_001164462.1 deleterious(0) possibly_damaging(0.711) 2/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF25 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ACA . . 0.0004748 0.00113 0.0007509 0.0001251 0.001583 0.0001509 0.0001274 0.0005453 0.0005818 101003657 MUC17 . GRCh38 chr7 101042419 101042419 + Missense_Mutation SNP C C A novel 7316-3765 BS_K4XGEGW0 C C c.11003C>A p.Thr3668Asn p.T3668N ENST00000306151 3/13 108 96 7 32 31 0 MUC17,missense_variant,p.Thr3668Asn,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr3668Asn,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 11067/14247 11003/13482 3668/4493 T/N aCt/aAt 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.01) probably_damaging(0.991) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ACT . . 101042419 EPPK1 . GRCh38 chr8 143871390 143871390 + Nonsense_Mutation SNP C C A novel 7316-3765 BS_K4XGEGW0 C C c.1864G>T p.Glu622Ter p.E622* ENST00000615648 2/2 52 32 19 32 32 0 EPPK1,stop_gained,p.Glu622Ter,ENST00000615648,NM_031308.3;EPPK1,stop_gained,p.Glu597Ter,ENST00000568225,; A ENSG00000261150 ENST00000615648 Transcript stop_gained 1936/16002 1864/15267 622/5088 E/* Gaa/Taa 1 -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107 UPI0002065B93 NM_031308.3 2/2 Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR44968,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2,hmmpanther:PTHR44968:SF2,SMART_domains:SM00250,Superfamily_domains:SSF75399 HIGH 1 SNV 5 PASS TCC . . 143871390 WASHC1 . GRCh38 chr9 14926 14926 + Missense_Mutation SNP C C T rs76748727 7316-3765 BS_K4XGEGW0 C C c.1279G>A p.Gly427Arg p.G427R ENST00000442898 11/11 39 27 10 22 22 0 WASHC1,missense_variant,p.Gly427Arg,ENST00000442898,NM_182905.4;DDX11L5,downstream_gene_variant,,ENST00000421620,; T ENSG00000181404 ENST00000442898 Transcript missense_variant 1422/1827 1279/1398 427/465 G/R Gga/Aga rs76748727 1 -1 WASHC1 HGNC HGNC:24361 protein_coding YES CCDS78375.1 ENSP00000485627 A8K0Z3 UPI0000251DC1 NM_182905.4 deleterious(0.01) benign(0.066) 11/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23331 MODERATE 1 SNV 2 PASS CCT . . 0.06521 0.2763 0.08448 0.03097 0.1724 0.006485 0.0469 0.066 0.05051 14926 PIGO . GRCh38 chr9 35092382 35092382 + Missense_Mutation SNP C C A novel 7316-3765 BS_K4XGEGW0 C C c.1505G>T p.Gly502Val p.G502V ENST00000378617 7/11 130 118 9 36 34 0 PIGO,missense_variant,p.Gly502Val,ENST00000378617,NM_032634.3;PIGO,intron_variant,,ENST00000298004,NM_001201484.1;PIGO,intron_variant,,ENST00000361778,NM_152850.3;AL353795.2,upstream_gene_variant,,ENST00000431804,;PIGO,downstream_gene_variant,,ENST00000472208,;PIGO,upstream_gene_variant,,ENST00000491687,;PIGO,downstream_gene_variant,,ENST00000492770,;PIGO,non_coding_transcript_exon_variant,,ENST00000474436,;PIGO,non_coding_transcript_exon_variant,,ENST00000465745,; A ENSG00000165282 ENST00000378617 Transcript missense_variant 1900/4066 1505/3270 502/1089 G/V gGa/gTa 1 -1 PIGO HGNC HGNC:23215 protein_coding YES CCDS6575.1 ENSP00000367880 Q8TEQ8 UPI0000048EF6 NM_032634.3 tolerated(0.53) benign(0) 7/11 hmmpanther:PTHR23071 MODERATE 1 SNV 1 1 PASS TCC . . 35092382 SIT1 . GRCh38 chr9 35650515 35650515 + Missense_Mutation SNP G G T novel 7316-3765 BS_K4XGEGW0 G G c.223C>A p.Pro75Thr p.P75T ENST00000259608 2/5 117 93 20 42 42 0 SIT1,missense_variant,p.Pro75Thr,ENST00000618781,;SIT1,missense_variant,p.Pro75Thr,ENST00000259608,NM_014450.2;AL357874.1,downstream_gene_variant,,ENST00000428948,;SIT1,intron_variant,,ENST00000474403,;CD72,upstream_gene_variant,,ENST00000465754,;SIT1,upstream_gene_variant,,ENST00000486859,; T ENSG00000137078 ENST00000259608 Transcript missense_variant 310/1231 223/591 75/196 P/T Ccg/Acg 1 -1 SIT1 HGNC HGNC:17710 protein_coding YES CCDS6582.1 ENSP00000259608 Q9Y3P8 UPI0000073C61 NM_014450.2 tolerated(0.06) benign(0.04) 2/5 hmmpanther:PTHR15604,blastprodom:PD358400 MODERATE 1 SNV 1 PASS GGA . . 35650515 TRPM3 . GRCh38 chr9 70846453 70846453 + Missense_Mutation SNP G G T novel 7316-3765 BS_K4XGEGW0 G G c.601C>A p.Gln201Lys p.Q201K ENST00000377110 4/25 104 69 34 31 31 0 TRPM3,missense_variant,p.Gln201Lys,ENST00000377110,NM_001007471.2;TRPM3,missense_variant,p.Gln48Lys,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,missense_variant,p.Gln48Lys,ENST00000377105,NM_024971.5;TRPM3,missense_variant,p.Gln203Lys,ENST00000357533,;TRPM3,missense_variant,p.Gln48Lys,ENST00000396292,NM_206946.3;TRPM3,missense_variant,p.Gln48Lys,ENST00000358082,;TRPM3,missense_variant,p.Gln48Lys,ENST00000396285,NM_020952.4;TRPM3,missense_variant,p.Gln48Lys,ENST00000408909,;TRPM3,missense_variant,p.Gln48Lys,ENST00000396280,NM_206945.3;TRPM3,missense_variant,p.Gln201Lys,ENST00000377111,;TRPM3,missense_variant,p.Gln48Lys,ENST00000396283,NM_001007470.1;TRPM3,missense_variant,p.Gln48Lys,ENST00000377101,;TRPM3,missense_variant,p.Gln48Lys,ENST00000361823,NM_206948.2;TRPM3,missense_variant,p.Gln48Lys,ENST00000377097,;TRPM3,non_coding_transcript_exon_variant,,ENST00000354500,; T ENSG00000083067 ENST00000377110 Transcript missense_variant 845/12258 601/5124 201/1707 Q/K Caa/Aaa 1 -1 TRPM3 HGNC HGNC:17992 protein_coding YES CCDS43835.1 ENSP00000366314 Q9HCF6 UPI0001596895 NM_001007471.2 tolerated(0.22) benign(0.06) 4/25 Gene3D:3.40.50.450,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7 MODERATE 1 SNV 1 PASS TGC . . 70846453 TLR4 . GRCh38 chr9 117713636 117713636 + Missense_Mutation SNP T T C novel 7316-3765 BS_K4XGEGW0 T T c.1508T>C p.Leu503Pro p.L503P ENST00000645071 3/3 86 77 8 23 23 0 TLR4,missense_variant,p.Leu503Pro,ENST00000645071,;TLR4,missense_variant,p.Leu503Pro,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Leu463Pro,ENST00000394487,NM_003266.3;TLR4,3_prime_UTR_variant,,ENST00000472304,NM_138557.2;AL160272.2,intron_variant,,ENST00000646089,;TLR4,downstream_gene_variant,,ENST00000490685,;AL160272.2,intron_variant,,ENST00000642985,; C ENSG00000136869 ENST00000645071 Transcript missense_variant 1759/12853 1508/2520 503/839 L/P cTc/cCc 1 1 TLR4 HGNC HGNC:11850 protein_coding YES CCDS6818.1 ENSP00000494590 UPI0000137057 deleterious(0) probably_damaging(0.993) 3/3 PROSITE_profiles:PS51450,hmmpanther:PTHR44568,Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52047 MODERATE 1 SNV 1 PASS CTC . . 117713636 PLPP7 . GRCh38 chr9 131290014 131290014 + Missense_Mutation SNP G G T novel 7316-3765 BS_K4XGEGW0 G G c.17G>T p.Ser6Ile p.S6I ENST00000372264 1/2 81 66 13 28 26 1 PLPP7,missense_variant,p.Ser6Ile,ENST00000372264,NM_032728.3;PLPP7,missense_variant,p.Ser6Ile,ENST00000372261,;PLPP7,missense_variant,p.Ser6Ile,ENST00000645295,;,regulatory_region_variant,,ENSR00000242314,; T ENSG00000160539 ENST00000372264 Transcript missense_variant 321/2095 17/816 6/271 S/I aGc/aTc 1 1 PLPP7 HGNC HGNC:28174 protein_coding YES CCDS6942.1 ENSP00000361338 Q8NBV4 UPI0000070B2A NM_032728.3 deleterious(0.01) benign(0.007) 1/2 hmmpanther:PTHR14969,hmmpanther:PTHR14969:SF17,mobidb-lite MODERATE 1 SNV 1 PASS AGC . . 131290014 FAM208B . GRCh38 chr10 5749148 5749153 + In_Frame_Del DEL GCCGCC GCCGCC - rs1352230723 7316-3765 BS_K4XGEGW0 GCCGCC GCCGCC c.5727_5732del p.Pro1910_Pro1911del p.P1910_P1911del ENST00000328090 15/21 122 102 15 25 25 0 FAM208B,inframe_deletion,p.Pro2125_Pro2126del,ENST00000645567,;FAM208B,inframe_deletion,p.Pro1910_Pro1911del,ENST00000328090,NM_001321785.1,NM_017782.4,NM_001321784.1,NM_001321783.1; - ENSG00000108021 ENST00000328090 Transcript inframe_deletion 6352-6357/8626 5727-5732/7293 1909-1911/2430 VPP/V gtGCCGCCt/gtt rs1352230723 1 1 FAM208B HGNC HGNC:23484 protein_coding YES CCDS41485.1 ENSP00000328426 Q5VWN6 UPI00004589BB NM_001321785.1,NM_017782.4,NM_001321784.1,NM_001321783.1 15/21 hmmpanther:PTHR16207:SF10,hmmpanther:PTHR16207 MODERATE 1 deletion 1 PASS GTGCCGCCT . . 0.0003631 8.05e-05 0.001552 0.000109 0.0003054 2.911e-05 0.0008475 0.000822 5749147 FAM208B . GRCh38 chr10 5749156 5749157 + Nonsense_Mutation INS - - ATGATACGG rs1402642538 7316-3765 BS_K4XGEGW0 - - c.5735_5736insATGATACGG p.Tyr1912delinsTer p.Y1912delins* ENST00000328090 15/21 120 97 17 25 25 0 FAM208B,stop_gained,p.Tyr2127delinsTer,ENST00000645567,;FAM208B,stop_gained,p.Tyr1912delinsTer,ENST00000328090,NM_001321785.1,NM_017782.4,NM_001321784.1,NM_001321783.1; ATGATACGG ENSG00000108021 ENST00000328090 Transcript stop_gained 6360-6361/8626 5735-5736/7293 1912/2430 Y/**YG tac/taATGATACGGc rs1402642538 1 1 FAM208B HGNC HGNC:23484 protein_coding YES CCDS41485.1 ENSP00000328426 Q5VWN6 UPI00004589BB NM_001321785.1,NM_017782.4,NM_001321784.1,NM_001321783.1 15/21 hmmpanther:PTHR16207:SF10,hmmpanther:PTHR16207 HIGH 1 insertion 1 PASS TAC . . 0.0006845 0.0002426 0.002638 0.0002191 0.0008496 9.76e-05 0.001701 0.001499 5749156 FAM208B . GRCh38 chr10 5749163 5749165 + In_Frame_Del DEL AAT AAT - rs1301607730 7316-3765 BS_K4XGEGW0 AAT AAT c.5742_5744del p.Gln1914_Ile1915delinsHis p.Q1914_I1915delinsH ENST00000328090 15/21 115 91 17 26 26 0 FAM208B,inframe_deletion,p.Gln2129_Ile2130delinsHis,ENST00000645567,;FAM208B,inframe_deletion,p.Gln1914_Ile1915delinsHis,ENST00000328090,NM_001321785.1,NM_017782.4,NM_001321784.1,NM_001321783.1; - ENSG00000108021 ENST00000328090 Transcript inframe_deletion 6367-6369/8626 5742-5744/7293 1914-1915/2430 QI/H caAATc/cac rs1301607730 1 1 FAM208B HGNC HGNC:23484 protein_coding YES CCDS41485.1 ENSP00000328426 Q5VWN6 UPI00004589BB NM_001321785.1,NM_017782.4,NM_001321784.1,NM_001321783.1 15/21 hmmpanther:PTHR16207:SF10,hmmpanther:PTHR16207 MODERATE 1 deletion 1 PASS CAAATC . . 0.00168 0.0008949 0.005771 0.0005476 0.002866 0.0002739 0.004867 0.003629 5749162 DLG5 . GRCh38 chr10 77821896 77821896 + Missense_Mutation SNP C C A novel 7316-3765 BS_K4XGEGW0 C C c.2588G>T p.Gly863Val p.G863V ENST00000372391 15/32 95 71 21 33 33 0 DLG5,missense_variant,p.Gly863Val,ENST00000372391,NM_004747.3;DLG5,intron_variant,,ENST00000424842,;DLG5,upstream_gene_variant,,ENST00000459739,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,non_coding_transcript_exon_variant,,ENST00000466198,;DLG5,upstream_gene_variant,,ENST00000463362,;DLG5,upstream_gene_variant,,ENST00000476354,; A ENSG00000151208 ENST00000372391 Transcript missense_variant 2594/7415 2588/5760 863/1919 G/V gGc/gTc 1 -1 DLG5 HGNC HGNC:2904 protein_coding YES CCDS7353.2 ENSP00000361467 Q8TDM6 UPI0000470041 NM_004747.3 deleterious(0.02) benign(0.051) 15/32 hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF31 MODERATE 1 SNV 1 PASS GCC . . 77821896 PAPSS2 . GRCh38 chr10 87713312 87713312 + Splice_Site SNP T T A rs1478605213 7316-3765 BS_K4XGEGW0 T T c.381+2T>A p.X127_splice ENST00000456849 57 34 6 23 17 0 PAPSS2,splice_donor_variant,,ENST00000361175,NM_004670.3;PAPSS2,splice_donor_variant,,ENST00000456849,NM_001015880.1;PAPSS2,downstream_gene_variant,,ENST00000465996,;PAPSS2,downstream_gene_variant,,ENST00000482258,; A ENSG00000198682 ENST00000456849 Transcript splice_donor_variant rs1478605213,CD127320,COSM146209 1 1 PAPSS2 HGNC HGNC:8604 protein_coding YES CCDS44453.1 ENSP00000406157 O95340 UPI000002B182 NM_001015880.1 3/12 0,0,1 HIGH 1 SNV 1 0,1,1 1 PASS GTA . . 87713312 CNNM1 . GRCh38 chr10 99387996 99387996 + Missense_Mutation SNP C C G novel 7316-3765 BS_K4XGEGW0 C C c.2517C>G p.Ser839Arg p.S839R ENST00000356713 8/11 67 56 10 24 22 0 CNNM1,missense_variant,p.Ser839Arg,ENST00000356713,NM_020348.2; G ENSG00000119946 ENST00000356713 Transcript missense_variant 2806/5959 2517/2856 839/951 S/R agC/agG 1 1 CNNM1 HGNC HGNC:102 protein_coding YES CCDS7478.2 ENSP00000349147 Q9NRU3 UPI0000E19A44 NM_020348.2 tolerated(0.4) benign(0.078) 8/11 hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF28 MODERATE 1 SNV 1 PASS GCC . . 99387996 MKI67 . GRCh38 chr10 128108163 128108163 + Missense_Mutation SNP C A A rs41306015 7316-3765 BS_K4XGEGW0 C C c.3677G>T p.Gly1226Val p.G1226V ENST00000368654 13/15 50 7 41 21 15 5 MKI67,missense_variant,p.Gly1226Val,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Gly866Val,ENST00000368653,NM_001145966.1;MKI67,downstream_gene_variant,,ENST00000484853,; A ENSG00000148773 ENST00000368654 Transcript missense_variant 4053/12678 3677/9771 1226/3256 G/V gGc/gTc rs41306015 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 deleterious(0) probably_damaging(1) 13/15 Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295 0.0397 0.0008 0.0648 0.0944 0.0593 0.01906 0.09849 MODERATE 1 SNV 2 PASS GCC . . 0.0694 0.01399 0.04694 0.07228 0.0004058 0.05808 0.09673 0.08154 0.06608 128108163 OR51M1 . GRCh38 chr11 5389801 5389801 + Missense_Mutation SNP C T T rs1498468 7316-3765 BS_K4XGEGW0 C C c.403C>T p.Leu135Phe p.L135F ENST00000642046 3/3 66 6 59 31 26 4 OR51M1,missense_variant,p.Leu135Phe,ENST00000642046,;OR51M1,missense_variant,p.Leu135Phe,ENST00000328611,NM_001004756.2;HBE1,intron_variant,,ENST00000292896,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;OR51B5,intron_variant,,ENST00000415970,;OR51B5,intron_variant,,ENST00000420465,;OR51B5,intron_variant,,ENST00000420726,;OR51M1,intron_variant,,ENST00000641529,;AC104389.4,intron_variant,,ENST00000380259,;OR51B5,intron_variant,,ENST00000418729,; T ENSG00000184698 ENST00000642046 Transcript missense_variant 630/4092 403/981 135/326 L/F Ctt/Ttt rs1498468,COSM6352153 1 1 OR51M1 HGNC HGNC:14847 protein_coding YES CCDS53596.1 ENSP00000493005 Q9H341 UPI000066D8EB tolerated(1) benign(0) 3/3 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF44,Superfamily_domains:SSF81321,cd15222 0.6987 0.6815 0.7277 0.5486 0.8231 0.728 0.7382 0.8282 0,1 17688704 MODERATE SNV 0,1 PASS CCT . . 0.7688 0.7085 0.6816 0.8901 0.5098 0.8422 0.8212 0.7921 0.7528 5389801 OR52L1 . GRCh38 chr11 5986450 5986450 + Missense_Mutation SNP G A A rs4436524 7316-3765 BS_K4XGEGW0 G G c.481C>T p.Arg161Cys p.R161C ENST00000332249 1/1 75 11 58 32 25 7 OR52L1,missense_variant,p.Arg161Cys,ENST00000332249,NM_001005173.3; A ENSG00000183313 ENST00000332249 Transcript missense_variant 536/1094 481/990 161/329 R/C Cgc/Tgc rs4436524 1 -1 OR52L1 HGNC HGNC:14785 protein_coding YES CCDS44529.1 ENSP00000330338 Q8NGH7 UPI000004B20D NM_001005173.3 deleterious(0.02) benign(0.005) 1/1 Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF96,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 0.2458 0.4251 0.1629 0.1369 0.1829 0.2393 MODERATE 1 SNV PASS CGC . . 5986450 PDHX . GRCh38 chr11 35020205 35020206 + Splice_Site DEL TA TA - novel 7316-3765 BS_K4XGEGW0 TA TA n.162-3_162-2del ENST00000477173 70 50 12 36 36 0 PDHX,splice_acceptor_variant,,ENST00000477173,; - ENSG00000110435 ENST00000477173 Transcript splice_acceptor_variant,intron_variant,non_coding_transcript_variant 1 1 PDHX HGNC HGNC:21350 processed_transcript 2/2 HIGH 1 deletion 3 1 PASS TTTAG . . 35020204 MAP3K11 . GRCh38 chr11 65599411 65599411 + Missense_Mutation SNP C T T rs35487354 7316-3765 BS_K4XGEGW0 C C c.2189G>A p.Arg730His p.R730H ENST00000309100 9/10 80 12 67 28 20 4 MAP3K11,missense_variant,p.Arg730His,ENST00000309100,NM_002419.3;MAP3K11,missense_variant,p.Arg473His,ENST00000530153,;MAP3K11,missense_variant,p.Arg146His,ENST00000532507,;KCNK7,upstream_gene_variant,,ENST00000340313,NM_033347.1;KCNK7,upstream_gene_variant,,ENST00000342202,;KCNK7,upstream_gene_variant,,ENST00000394216,NM_005714.1;KCNK7,upstream_gene_variant,,ENST00000394217,NM_033348.1,NM_033455.1;MAP3K11,downstream_gene_variant,,ENST00000534432,;MAP3K11,3_prime_UTR_variant,,ENST00000524848,; T ENSG00000173327 ENST00000309100 Transcript missense_variant 2675/3566 2189/2544 730/847 R/H cGt/cAt rs35487354,COSM930451 1 -1 MAP3K11 HGNC HGNC:6850 protein_coding YES CCDS8107.1 ENSP00000309597 Q16584 A0A024R5E6 UPI0000049BF7 NM_002419.3 tolerated_low_confidence(0.21) benign(0) 9/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF1,mobidb-lite 0.0032 0.0008 0.0101 0.008 0.003016 0.0147 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 0.01074 0.003375 0.004467 0.007048 0.01011 0.01644 0.01282 0.001664 65599411 CTSC . GRCh38 chr11 88335089 88335089 + Splice_Region DEL A A - rs11326739 7316-3765 BS_K4XGEGW0 A A c.173-7del ENST00000227266 52 39 10 23 22 0 CTSC,splice_region_variant,,ENST00000227266,NM_001814.5;CTSC,splice_region_variant,,ENST00000524463,NM_148170.4;CTSC,splice_region_variant,,ENST00000527018,;CTSC,splice_region_variant,,ENST00000529974,NM_001114173.2;CTSC,splice_region_variant,,ENST00000393301,;CTSC,splice_region_variant,,ENST00000533865,;CTSC,splice_region_variant,,ENST00000534131,; - ENSG00000109861 ENST00000227266 Transcript splice_region_variant,intron_variant rs11326739 1 -1 CTSC HGNC HGNC:2528 protein_coding YES CCDS8282.1 ENSP00000227266 P53634 UPI000006D22D NM_001814.5 1/6 benign LOW 1 deletion 1 1 PASS AGAA . . 0.1745 0.1991 0.2052 0.09057 0.1896 0.2083 0.1622 0.1692 0.1628 88335088 VWF . GRCh38 chr12 6018574 6018574 + Missense_Mutation SNP T T A novel 7316-3765 BS_K4XGEGW0 T T c.4844A>T p.Glu1615Val p.E1615V ENST00000261405 28/52 74 46 22 24 23 1 VWF,missense_variant,p.Glu1615Val,ENST00000261405,NM_000552.4;VWF,intron_variant,,ENST00000538635,;VWF,downstream_gene_variant,,ENST00000539641,; A ENSG00000110799 ENST00000261405 Transcript missense_variant 5099/8838 4844/8442 1615/2813 E/V gAg/gTg 1 -1 VWF HGNC HGNC:12726 protein_coding YES CCDS8539.1 ENSP00000261405 P04275 UPI00001AE7EE NM_000552.4 tolerated(0.34) benign(0.012) 28/52 Gene3D:3.40.50.410,Pfam_domain:PF00092,PIRSF_domain:PIRSF002495,PROSITE_profiles:PS50234,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF361,SMART_domains:SM00327,Superfamily_domains:SSF53300,cd01450 MODERATE 1 SNV 1 1 PASS CTC . . 6018574 LRIG3 . GRCh38 chr12 58880671 58880671 + Missense_Mutation SNP C C G novel 7316-3765 BS_K4XGEGW0 C C c.1711G>C p.Val571Leu p.V571L ENST00000320743 13/19 83 74 8 37 37 0 LRIG3,missense_variant,p.Val571Leu,ENST00000320743,NM_153377.4;LRIG3,missense_variant,p.Val511Leu,ENST00000379141,NM_001136051.2;LRIG3,missense_variant,p.Val571Leu,ENST00000433272,;LRIG3,non_coding_transcript_exon_variant,,ENST00000547329,;LRIG3,upstream_gene_variant,,ENST00000552646,; G ENSG00000139263 ENST00000320743 Transcript missense_variant 1998/4070 1711/3360 571/1119 V/L Gtg/Ctg 1 -1 LRIG3 HGNC HGNC:30991 protein_coding YES CCDS8960.1 ENSP00000326759 Q6UXM1 UPI0000035BB5 NM_153377.4 deleterious(0.01) probably_damaging(0.994) 13/19 PROSITE_profiles:PS50835,hmmpanther:PTHR44009,hmmpanther:PTHR44009:SF3,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 1 PASS ACC . . 58880671 TRAV1-1 . GRCh38 chr14 21621948 21621948 + Splice_Site SNP T T C novel 7316-3765 BS_K4XGEGW0 T T c.43+2T>C p.X15_splice ENST00000542354 69 52 15 41 41 0 TRAV1-1,splice_donor_variant,,ENST00000542354,; C ENSG00000255569 ENST00000542354 Transcript splice_donor_variant 1 1 TRAV1-1 HGNC HGNC:12101 TR_V_gene YES ENSP00000446309 A0A0B4J248 UPI000011C6FF 1/1 HIGH 1 SNV PASS GTG . . 21621948 TTC6 . GRCh38 chr14 37739130 37739130 + Missense_Mutation SNP T T C rs1211115290 7316-3765 BS_K4XGEGW0 T T c.2338T>C p.Ser780Pro p.S780P ENST00000553443 10/31 64 54 8 21 21 0 TTC6,missense_variant,p.Ser780Pro,ENST00000553443,NM_001310135.1;TTC6,3_prime_UTR_variant,,ENST00000533625,; C ENSG00000139865 ENST00000553443 Transcript missense_variant 2338/5833 2338/5661 780/1886 S/P Tcc/Ccc rs1211115290 1 1 TTC6 HGNC HGNC:19739 protein_coding ENSP00000451131 G3V3A5 UPI00021CF1B4 NM_001310135.1 tolerated(0.06) benign(0.009) 10/31 MODERATE SNV 5 PASS ATC . . 37739130 AL390254.1 . GRCh38 chr14 95048259 95048259 + Splice_Region SNP G A A rs11160227 7316-3765 BS_K4XGEGW0 G G n.40G>A ENST00000554033 1/2 42 4 37 26 21 5 AL390254.1,splice_region_variant,,ENST00000554033,; A ENSG00000258866 ENST00000554033 Transcript splice_region_variant,non_coding_transcript_exon_variant 40/465 rs11160227 1 1 AL390254.1 Clone_based_ensembl_gene lincRNA YES 1/2 0.6837 0.6407 0.7637 0.6448 0.6909 0.7178 LOW 1 SNV 5 PASS AGG . . 95048259 MAGEL2 . GRCh38 chr15 23646050 23646050 + Missense_Mutation SNP C C T novel 7316-3765 BS_K4XGEGW0 C C c.1693G>A p.Val565Met p.V565M ENST00000532292 1/1 59 28 29 21 20 0 MAGEL2,missense_variant,p.Val565Met,ENST00000532292,NM_019066.4; T ENSG00000254585 ENST00000532292 Transcript missense_variant 1792/4298 1693/3750 565/1249 V/M Gtg/Atg 1 -1 MAGEL2 HGNC HGNC:6814 protein_coding YES CCDS73700.1 ENSP00000433433 Q9UJ55 UPI0001B3CB28 NM_019066.4 tolerated_low_confidence(0.07) unknown(0) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ACA . . 23646050 TRPM7 . GRCh38 chr15 50580915 50580916 + Splice_Region INS - - A rs374182910 7316-3765 BS_K4XGEGW0 - - c.4558-8dup ENST00000313478 65 46 9 22 21 0 TRPM7,splice_region_variant,,ENST00000313478,NM_017672.5;TRPM7,splice_region_variant,,ENST00000560955,NM_001301212.1;TRPM7,splice_region_variant,,ENST00000646667,;TRPM7,splice_region_variant,,ENST00000558444,;TRPM7,splice_region_variant,,ENST00000560849,;TRPM7,splice_region_variant,,ENST00000561443,;TRPM7,downstream_gene_variant,,ENST00000645282,; A ENSG00000092439 ENST00000313478 Transcript splice_region_variant,intron_variant rs374182910 1 -1 TRPM7 HGNC HGNC:17994 protein_coding YES CCDS42035.1 ENSP00000320239 Q96QT4 A0A024R5V1 UPI0000071CBA NM_017672.5 29/38 LOW 1 insertion 1 1 PASS GTA . . 0.029 0.07645 0.04613 0.03739 0.03611 0.02532 0.01824 0.03455 0.0244 50580915 MINDY2 . GRCh38 chr15 58771555 58771555 + Missense_Mutation SNP C C G novel 7316-3765 BS_K4XGEGW0 C C c.160C>G p.Leu54Val p.L54V ENST00000559228 1/9 65 56 9 37 36 0 MINDY2,missense_variant,p.Leu54Val,ENST00000559228,NM_001040450.2;MINDY2,missense_variant,p.Leu54Val,ENST00000450403,NM_001040453.2;AC090515.2,upstream_gene_variant,,ENST00000500929,;MINDY2,missense_variant,p.Leu54Val,ENST00000316848,;MINDY2,missense_variant,p.Leu54Val,ENST00000560289,;,regulatory_region_variant,,ENSR00000077260,; G ENSG00000128923 ENST00000559228 Transcript missense_variant 242/9238 160/1866 54/621 L/V Ctg/Gtg 1 1 MINDY2 HGNC HGNC:26954 protein_coding YES CCDS42046.1 ENSP00000452885 Q8NBR6 UPI0000D74C47 NM_001040450.2 tolerated_low_confidence(0.33) benign(0.003) 1/9 mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 2 PASS GCT . . 58771555 AC007906.2 . GRCh38 chr16 53035964 53035964 + Splice_Region DEL A A - rs1321319844 7316-3765 BS_K4XGEGW0 A A n.193-3del ENST00000562178 65 43 13 19 14 0 AC007906.2,splice_region_variant,,ENST00000562178,; - ENSG00000277639 ENST00000562178 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1321319844 1 -1 AC007906.2 Clone_based_ensembl_gene processed_transcript 2/2 LOW 1 deletion 3 PASS CTAA . . 53035963 ZNF469 . GRCh38 chr16 88429385 88429385 + Missense_Mutation SNP A A C novel 7316-3765 BS_K4XGEGW0 A A c.1915A>C p.Thr639Pro p.T639P ENST00000437464 1/2 78 60 13 26 21 1 ZNF469,missense_variant,p.Thr639Pro,ENST00000565624,;ZNF469,missense_variant,p.Thr639Pro,ENST00000437464,NM_001127464.2; C ENSG00000225614 ENST00000437464 Transcript missense_variant 1915/13203 1915/11778 639/3925 T/P Act/Cct 1 1 ZNF469 HGNC HGNC:23216 protein_coding YES CCDS45544.1 ENSP00000402343 Q96JG9 UPI0004E4C937 NM_001127464.2 tolerated(0.29) benign(0.034) 1/2 hmmpanther:PTHR21465,mobidb-lite MODERATE 1 SNV 5 1 PASS CAC . . 88429385 SPECC1 . GRCh38 chr17 20204926 20204926 + Missense_Mutation SNP A T T rs2703806 7316-3765 BS_K4XGEGW0 A A c.877A>T p.Met293Leu p.M293L ENST00000261503 4/15 81 7 73 31 23 8 SPECC1,missense_variant,p.Met212Leu,ENST00000395530,NM_001033555.2;SPECC1,missense_variant,p.Met293Leu,ENST00000395529,NM_152904.4;SPECC1,missense_variant,p.Met293Leu,ENST00000261503,NM_001033553.2;SPECC1,missense_variant,p.Met293Leu,ENST00000395527,NM_001243439.1;SPECC1,missense_variant,p.Met212Leu,ENST00000395522,NM_001243438.1;SPECC1,missense_variant,p.Met212Leu,ENST00000395525,NM_001033554.2;SPECC1,upstream_gene_variant,,ENST00000581399,;SPECC1,downstream_gene_variant,,ENST00000581973,;SPECC1,upstream_gene_variant,,ENST00000582226,;SPECC1,downstream_gene_variant,,ENST00000583463,;SPECC1,downstream_gene_variant,,ENST00000583482,;SPECC1,upstream_gene_variant,,ENST00000584527,;AC004702.1,intron_variant,,ENST00000580225,;SPECC1,intron_variant,,ENST00000472876,;SPECC1,downstream_gene_variant,,ENST00000413167,;SPECC1,downstream_gene_variant,,ENST00000579688,;SPECC1,downstream_gene_variant,,ENST00000582063,;SPECC1,intron_variant,,ENST00000467722,; T ENSG00000128487 ENST00000261503 Transcript missense_variant 928/3948 877/3207 293/1068 M/L Atg/Ttg rs2703806 1 1 SPECC1 HGNC HGNC:30615 protein_coding YES CCDS32590.1 ENSP00000261503 Q5M775 A0A024QYY9 UPI000020187D NM_001033553.2 tolerated(1) benign(0) 4/15 mobidb-lite,hmmpanther:PTHR23167:SF3,hmmpanther:PTHR23167,Gene3D:1.20.1170.10 0.8193 0.9713 0.6686 0.9861 0.5716 0.8037 0.9094 0.5773 MODERATE 1 SNV 1 1 PASS GAT . . 0.67 0.9251 0.6652 0.5692 0.9908 0.6233 0.5801 0.6224 0.7679 20204926 IGFBP4 . GRCh38 chr17 40443877 40443877 + Missense_Mutation SNP G G T novel 7316-3765 BS_K4XGEGW0 G G c.142G>T p.Val48Leu p.V48L ENST00000269593 1/4 47 33 10 23 22 0 IGFBP4,missense_variant,p.Val48Leu,ENST00000269593,NM_001552.2;,regulatory_region_variant,,ENSR00000094094,;RPL23AP75,upstream_gene_variant,,ENST00000491601,; T ENSG00000141753 ENST00000269593 Transcript missense_variant 417/2200 142/777 48/258 V/L Gtg/Ttg 1 1 IGFBP4 HGNC HGNC:5473 protein_coding YES CCDS11367.1 ENSP00000269593 P22692 A0A024R1U8 UPI0000035977 NM_001552.2 tolerated(0.13) probably_damaging(0.998) 1/4 Pfam_domain:PF00219,SMART_domains:SM00121,Superfamily_domains:SSF57184,PROSITE_profiles:PS51323,hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF7 MODERATE 1 SNV 1 PASS GGT . . 40443877 B4GALNT2 . GRCh38 chr17 49168762 49168762 + Missense_Mutation SNP A A G novel 7316-3765 BS_K4XGEGW0 A A c.1357A>G p.Arg453Gly p.R453G ENST00000300404 10/11 78 71 7 41 41 0 B4GALNT2,missense_variant,p.Arg393Gly,ENST00000393354,NM_001159387.1;B4GALNT2,missense_variant,p.Arg453Gly,ENST00000300404,NM_153446.2;B4GALNT2,missense_variant,p.Arg367Gly,ENST00000504681,NM_001159388.1; G ENSG00000167080 ENST00000300404 Transcript missense_variant 1416/1906 1357/1701 453/566 R/G Agg/Ggg 1 1 B4GALNT2 HGNC HGNC:24136 protein_coding YES CCDS11544.1 ENSP00000300404 Q8NHY0 UPI000013E655 NM_153446.2 deleterious(0) possibly_damaging(0.783) 10/11 hmmpanther:PTHR15046:SF2,hmmpanther:PTHR15046,PIRSF_domain:PIRSF000474,Superfamily_domains:SSF53448 MODERATE 1 SNV 1 PASS GAG . . 49168762 FTSJ3 . GRCh38 chr17 63824079 63824079 + Splice_Region SNP T C C rs2584627 7316-3765 BS_K4XGEGW0 T T c.1154+5A>G ENST00000427159 74 6 64 23 20 3 FTSJ3,splice_region_variant,,ENST00000427159,NM_017647.3;PSMC5,upstream_gene_variant,,ENST00000310144,NM_002805.5;PSMC5,upstream_gene_variant,,ENST00000375812,NM_001199163.1;DDX42,downstream_gene_variant,,ENST00000389924,NM_203499.2;DDX42,downstream_gene_variant,,ENST00000457800,;DDX42,downstream_gene_variant,,ENST00000578681,NM_007372.3;PSMC5,upstream_gene_variant,,ENST00000579708,;FTSJ3,downstream_gene_variant,,ENST00000580272,;PSMC5,upstream_gene_variant,,ENST00000580864,;FTSJ3,downstream_gene_variant,,ENST00000581209,;PSMC5,upstream_gene_variant,,ENST00000581842,;PSMC5,upstream_gene_variant,,ENST00000581882,;PSMC5,upstream_gene_variant,,ENST00000582130,;DDX42,downstream_gene_variant,,ENST00000583590,;PSMC5,upstream_gene_variant,,ENST00000584320,;FTSJ3,downstream_gene_variant,,ENST00000584574,;PSMC5,upstream_gene_variant,,ENST00000585123,;FTSJ3,downstream_gene_variant,,ENST00000585145,;FTSJ3,downstream_gene_variant,,ENST00000580295,;PSMC5,upstream_gene_variant,,ENST00000582420,;DDX42,downstream_gene_variant,,ENST00000582985,;FTSJ3,splice_region_variant,,ENST00000580376,;FTSJ3,downstream_gene_variant,,ENST00000577263,;PSMC5,upstream_gene_variant,,ENST00000578570,;DDX42,downstream_gene_variant,,ENST00000578593,;PSMC5,upstream_gene_variant,,ENST00000579147,;FTSJ3,downstream_gene_variant,,ENST00000579569,;FTSJ3,upstream_gene_variant,,ENST00000579831,;FTSJ3,downstream_gene_variant,,ENST00000580129,;PSMC5,upstream_gene_variant,,ENST00000580265,;FTSJ3,downstream_gene_variant,,ENST00000580290,;PSMC5,upstream_gene_variant,,ENST00000581764,;DDX42,downstream_gene_variant,,ENST00000581767,;FTSJ3,downstream_gene_variant,,ENST00000582476,;FTSJ3,upstream_gene_variant,,ENST00000583202,;PSMC5,upstream_gene_variant,,ENST00000583283,;FTSJ3,upstream_gene_variant,,ENST00000583901,;DDX42,downstream_gene_variant,,ENST00000584010,;FTSJ3,downstream_gene_variant,,ENST00000584193,;PSMC5,upstream_gene_variant,,ENST00000584536,;PSMC5,upstream_gene_variant,,ENST00000585242,; C ENSG00000108592 ENST00000427159 Transcript splice_region_variant,intron_variant rs2584627,COSM4000252 1 -1 FTSJ3 HGNC HGNC:17136 protein_coding YES CCDS11644.1 ENSP00000396673 Q8IY81 UPI000013C87B NM_017647.3 12/20 0.7324 0.9781 0.6816 0.5556 0.5984 0.7566 0.9108 0.6065 0,1 LOW 1 SNV 1 0,1 PASS TTT . . 0.6493 0.9303 0.6265 0.521 0.5748 0.652 0.6165 0.6317 0.7372 63824079 FAAP100 . GRCh38 chr17 81544095 81544095 + Missense_Mutation SNP G G T novel 7316-3765 BS_K4XGEGW0 G G c.2336C>A p.Ala779Glu p.A779E ENST00000327787 7/9 87 78 7 23 21 0 FAAP100,missense_variant,p.Ala779Glu,ENST00000327787,NM_025161.5;FAAP100,missense_variant,p.Ala428Glu,ENST00000425898,;FAAP100,3_prime_UTR_variant,,ENST00000443656,;FAAP100,3_prime_UTR_variant,,ENST00000545865,; T ENSG00000185504 ENST00000327787 Transcript missense_variant 2383/3627 2336/2646 779/881 A/E gCa/gAa 1 -1 FAAP100 HGNC HGNC:26171 protein_coding YES CCDS32765.2 ENSP00000333283 Q0VG06 UPI0001C53D21 NM_025161.5 tolerated(0.21) probably_damaging(0.998) 7/9 hmmpanther:PTHR14890,Pfam_domain:PF15146 MODERATE 1 SNV 1 PASS TGC . . 81544095 TUBB8P12 . GRCh38 chr18 47650 47650 + Missense_Mutation SNP G G A rs200636062 7316-3765 BS_K4XGEGW0 G G c.1075C>T p.Arg359Trp p.R359W ENST00000308911 4/4 71 63 8 35 35 0 TUBB8P12,missense_variant,p.Arg359Trp,ENST00000308911,;AP001005.3,downstream_gene_variant,,ENST00000572530,;AP001005.3,downstream_gene_variant,,ENST00000575325,;TUBB8P12,downstream_gene_variant,,ENST00000594555,;AP001005.1,downstream_gene_variant,,ENST00000575066,; A ENSG00000173213 ENST00000308911 Transcript missense_variant 1075/1335 1075/1335 359/444 R/W Cgg/Tgg rs200636062,COSM5031174 1 -1 TUBB8P12 HGNC HGNC:24983 protein_coding YES ENSP00000496713 A6NNZ2 UPI000049DE76 tolerated_low_confidence(0.05) probably_damaging(0.964) 4/4 cd02187,hmmpanther:PTHR11588:SF256,hmmpanther:PTHR11588,Gene3D:3.30.1330.20,Pfam_domain:PF03953,Superfamily_domains:SSF55307,SMART_domains:SM00865,Prints_domain:PR01163 0.0004 0.001 0.001 0,1 MODERATE SNV 0,1 PASS CGG . . 0.001337 0.005679 0.0001528 0.003864 0.000116 0.0006007 0.001492 0.001705 0.0004674 47650 B4GALT6 . GRCh38 chr18 31627072 31627072 + Missense_Mutation SNP G G T novel 7316-3765 BS_K4XGEGW0 G G c.826C>A p.Gln276Lys p.Q276K ENST00000306851 7/9 73 64 7 33 33 0 B4GALT6,missense_variant,p.Gln276Lys,ENST00000306851,NM_004775.3;B4GALT6,missense_variant,p.Gln237Lys,ENST00000237019,;B4GALT6,missense_variant,p.Gln237Lys,ENST00000383131,;B4GALT6,non_coding_transcript_exon_variant,,ENST00000578114,; T ENSG00000118276 ENST00000306851 Transcript missense_variant 1123/3891 826/1149 276/382 Q/K Caa/Aaa 1 -1 B4GALT6 HGNC HGNC:929 protein_coding YES CCDS11900.1 ENSP00000306459 Q9UBX8 UPI0000126721 NM_004775.3 deleterious(0) probably_damaging(0.996) 7/9 Gene3D:3.90.550.10,Pfam_domain:PF02709,Prints_domain:PR02050,hmmpanther:PTHR19300,hmmpanther:PTHR19300:SF47,Superfamily_domains:SSF53448,cd00899 MODERATE 1 SNV 1 PASS TGT . . 31627072 KLHL26 . GRCh38 chr19 18669104 18669104 + Nonsense_Mutation SNP G G A novel 7316-3765 BS_K4XGEGW0 G G c.1707G>A p.Trp569Ter p.W569* ENST00000300976 3/3 72 61 8 32 32 0 KLHL26,stop_gained,p.Trp569Ter,ENST00000300976,NM_018316.1;KLHL26,intron_variant,,ENST00000599006,;KLHL26,downstream_gene_variant,,ENST00000595182,;KLHL26,downstream_gene_variant,,ENST00000595423,;KLHL26,downstream_gene_variant,,ENST00000596843,;KLHL26,downstream_gene_variant,,ENST00000600657,; A ENSG00000167487 ENST00000300976 Transcript stop_gained 1797/4407 1707/1848 569/615 W/* tgG/tgA 1 1 KLHL26 HGNC HGNC:25623 protein_coding YES CCDS12384.1 ENSP00000300976 Q53HC5 A0A024R7N5 UPI0000071AC2 NM_018316.1 3/3 hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF56,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,Gene3D:2.120.10.80,SMART_domains:SM00612,Superfamily_domains:SSF117281 HIGH 1 SNV 1 PASS GGC . . 18669104 KCNB1 . GRCh38 chr20 49373469 49373469 + Missense_Mutation SNP G G T novel 7316-3765 BS_K4XGEGW0 G G c.2091C>A p.Asn697Lys p.N697K ENST00000371741 2/2 56 33 22 23 21 0 KCNB1,missense_variant,p.Asn697Lys,ENST00000371741,NM_004975.3;KCNB1,missense_variant,p.Asn697Lys,ENST00000635465,;KCNB1,intron_variant,,ENST00000635878,;AL035685.1,intron_variant,,ENST00000637341,;KCNB1,downstream_gene_variant,,ENST00000635210,;KCNB1,upstream_gene_variant,,ENST00000636838,;AL035685.1,downstream_gene_variant,,ENST00000637091,;AL035685.1,downstream_gene_variant,,ENST00000637575,;KCNB1,upstream_gene_variant,,ENST00000637131,; T ENSG00000158445 ENST00000371741 Transcript missense_variant 2287/11879 2091/2577 697/858 N/K aaC/aaA 1 -1 KCNB1 HGNC HGNC:6231 protein_coding YES CCDS13418.1 ENSP00000360806 Q14721 UPI000012DC80 NM_004975.3 tolerated_low_confidence(0.3) benign(0.05) 2/2 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF63 MODERATE 1 SNV 1 1 PASS GGT . . 49373469 IL10RB . GRCh38 chr21 33308199 33308199 + Missense_Mutation SNP T T A novel 7316-3765 BS_K4XGEGW0 T T c.144T>A p.Asn48Lys p.N48K ENST00000637650 2/2 61 48 11 16 15 0 IL10RB,missense_variant,p.Asn48Lys,ENST00000637650,;IL10RB,intron_variant,,ENST00000609556,; A ENSG00000243646 ENST00000637650 Transcript missense_variant 144/2132 144/267 48/88 N/K aaT/aaA 1 1 IL10RB HGNC HGNC:5965 protein_coding ENSP00000489716 A0A1B0GTI5 UPI0007E52AA5 tolerated_low_confidence(0.84) benign(0) 2/2 hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF50 MODERATE 1 SNV 5 1 PASS ATT . . 33308199 TOP3B . GRCh38 chr22 21959677 21959677 + Missense_Mutation SNP C C T 7316-3765 BS_K4XGEGW0 C C c.1714G>A p.Ala572Thr p.A572T ENST00000398793 15/18 80 45 29 32 31 0 TOP3B,missense_variant,p.Ala572Thr,ENST00000398793,NM_003935.4,NM_001349845.1;TOP3B,missense_variant,p.Ala367Thr,ENST00000457270,;TOP3B,missense_variant,p.Ala572Thr,ENST00000357179,NM_001282112.1,NM_001282113.1;AC245452.1,non_coding_transcript_exon_variant,,ENST00000458178,;TOP3B,3_prime_UTR_variant,,ENST00000444502,;TOP3B,3_prime_UTR_variant,,ENST00000457179,;TOP3B,3_prime_UTR_variant,,ENST00000436282,;TOP3B,downstream_gene_variant,,ENST00000470338,; T ENSG00000100038 ENST00000398793 Transcript missense_variant 2149/3107 1714/2589 572/862 A/T Gcc/Acc COSM6806237,COSM6806236 1 -1 TOP3B HGNC HGNC:11993 protein_coding YES CCDS13797.1 ENSP00000381773 O95985 A0A024R1C2 UPI00001371A1 NM_003935.4,NM_001349845.1 deleterious(0) probably_damaging(0.989) 15/18 cd00186,Gene3D:1.10.460.10,Pfam_domain:PF01131,Superfamily_domains:SSF56712,hmmpanther:PTHR11390:SF20,hmmpanther:PTHR11390 1,1 MODERATE 1 SNV 1 1,1 PASS GCG . . 21959677 IL17REL . GRCh38 chr22 49997335 49997335 + Missense_Mutation SNP C C T rs148672889 7316-3765 BS_K4XGEGW0 C C c.959G>A p.Arg320His p.R320H ENST00000389983 13/15 90 77 13 36 36 0 IL17REL,missense_variant,p.Arg320His,ENST00000389983,NM_001001694.2;IL17REL,missense_variant,p.Arg320His,ENST00000341280,; T ENSG00000188263 ENST00000389983 Transcript missense_variant 1224/3668 959/1011 320/336 R/H cGc/cAc rs148672889 1 -1 IL17REL HGNC HGNC:33808 protein_coding YES CCDS33679.1 ENSP00000374633 Q6ZVW7 UPI0000251EDA NM_001001694.2 tolerated_low_confidence(0.32) benign(0) 13/15 hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF10 0.0002 0.001 0.001817 0.000814 MODERATE 1 SNV 2 PASS GCG . . 0.0006015 0.002508 0.0001193 0.0007766 0.000618 49997335 ASMT . GRCh38 chrX 1642933 1642933 + Missense_Mutation SNP G G A novel 7316-3765 BS_K4XGEGW0 G G c.1041G>A p.Met347Ile p.M347I ENST00000381241 9/9 80 49 29 32 32 0 ASMT,missense_variant,p.Met347Ile,ENST00000381241,NM_001171038.1,NM_004043.2;ASMT,missense_variant,p.Met319Ile,ENST00000381229,;ASMT,missense_variant,p.Met272Ile,ENST00000381233,NM_001171039.1;ASMT,missense_variant,p.Met98Ile,ENST00000432523,; A ENSG00000196433 ENST00000381241 Transcript missense_variant 1240/1388 1041/1122 347/373 M/I atG/atA 1 1 ASMT HGNC HGNC:750 protein_coding YES CCDS14117.1 ENSP00000370639 P46597 A0A024RBT9 UPI00001AEDD0 NM_001171038.1,NM_004043.2 tolerated(0.13) benign(0.01) 9/9 PROSITE_profiles:PS51683,hmmpanther:PTHR11746:SF119,hmmpanther:PTHR11746,PIRSF_domain:PIRSF005739,Gene3D:3.40.50.150,Pfam_domain:PF00891,Superfamily_domains:SSF53335 MODERATE 1 SNV 1 PASS TGC . . 1642933 TXLNG . GRCh38 chrX 16832726 16832727 + Frame_Shift_Del DEL AG AG - rs746161961 7316-3765 BS_K4XGEGW0 AG AG c.980_981del p.Glu327ValfsTer33 p.E327Vfs*33 ENST00000380122 6/10 66 53 6 34 33 0 TXLNG,frameshift_variant,p.Glu327ValfsTer33,ENST00000380122,NM_018360.2;TXLNG,frameshift_variant,p.Glu195ValfsTer33,ENST00000398155,NM_001168683.1; - ENSG00000086712 ENST00000380122 Transcript frameshift_variant 1029-1030/4401 968-969/1587 323/528 Q/X cAG/c rs746161961,COSM1118548 1 1 TXLNG HGNC HGNC:18578 protein_coding YES CCDS14178.1 ENSP00000369465 Q9NUQ3 UPI00001AE847 NM_018360.2 6/10 Pfam_domain:PF09728,hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF14 0,1 HIGH 1 deletion 1 12 0,1 PASS TCAGA . . 0.0009733 0.001032 0.001196 0.001651 0.0008745 0.001081 0.0008388 0.0009372 0.0009745 16832725 REPS2 . GRCh38 chrX 17133875 17133875 + Frame_Shift_Del DEL T T - novel 7316-3765 BS_K4XGEGW0 T T c.1630del p.Ser544ProfsTer52 p.S544Pfs*52 ENST00000357277 15/18 79 68 5 35 35 0 REPS2,frameshift_variant,p.Ser544ProfsTer52,ENST00000357277,NM_004726.2;REPS2,frameshift_variant,p.Ser543ProfsTer52,ENST00000303843,NM_001080975.1;REPS2,non_coding_transcript_exon_variant,,ENST00000469714,;REPS2,upstream_gene_variant,,ENST00000470686,; - ENSG00000169891 ENST00000357277 Transcript frameshift_variant 1801/7953 1630/1983 544/660 S/X Tcc/cc 1 1 REPS2 HGNC HGNC:9963 protein_coding YES CCDS14180.2 ENSP00000349824 Q8NFH8 UPI00001BBB18 NM_004726.2 15/18 mobidb-lite,hmmpanther:PTHR11216:SF64,hmmpanther:PTHR11216,Gene3D:1.20.1170.10 HIGH 1 deletion 1 PASS CATC . . 17133874 MBTPS2 . GRCh38 chrX 21878549 21878549 + Missense_Mutation SNP C C T novel 7316-3765 BS_K4XGEGW0 C C c.1118C>T p.Thr373Ile p.T373I ENST00000379484 9/11 82 58 22 47 47 0 MBTPS2,missense_variant,p.Thr373Ile,ENST00000379484,NM_015884.3; T ENSG00000012174 ENST00000379484 Transcript missense_variant 1217/4428 1118/1560 373/519 T/I aCc/aTc 1 1 MBTPS2 HGNC HGNC:15455 protein_coding YES CCDS14201.1 ENSP00000368798 O43462 UPI000012F5A0 NM_015884.3 tolerated(0.17) benign(0.435) 9/11 Pfam_domain:PF02163,hmmpanther:PTHR13325 MODERATE 1 SNV 1 1 PASS ACC . . 21878549 FAM47B . GRCh38 chrX 34942885 34942885 + Missense_Mutation SNP G G T rs142579345 7316-3765 BS_K4XGEGW0 G G c.54G>T p.Lys18Asn p.K18N ENST00000329357 1/1 74 67 6 43 43 0 FAM47B,missense_variant,p.Lys18Asn,ENST00000329357,NM_152631.2; T ENSG00000189132 ENST00000329357 Transcript missense_variant 90/2120 54/1938 18/645 K/N aaG/aaT rs142579345 1 1 FAM47B HGNC HGNC:26659 protein_coding YES CCDS14236.1 ENSP00000328307 Q8NA70 UPI000013F47B NM_152631.2 deleterious(0.01) possibly_damaging(0.89) 1/1 Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192,mobidb-lite MODERATE 1 SNV PASS AGC . . 5.648e-06 3.774e-05 34942885 PPP1R2C . GRCh38 chrX 42778021 42778021 + Missense_Mutation SNP G G A rs778371954 7316-3765 BS_K4XGEGW0 G G c.59C>T p.Ser20Leu p.S20L ENST00000378131 1/1 60 44 11 35 35 0 PPP1R2C,missense_variant,p.Ser20Leu,ENST00000378131,NM_025210.1;,regulatory_region_variant,,ENSR00000340562,; A ENSG00000102055 ENST00000378131 Transcript missense_variant 227/880 59/609 20/202 S/L tCg/tTg rs778371954 1 -1 PPP1R2C HGNC HGNC:16324 protein_coding YES ENSP00000490336 O14990 UPI00000726BA NM_025210.1 deleterious(0) possibly_damaging(0.76) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12398,hmmpanther:PTHR12398:SF21 MODERATE 1 SNV PASS CGA . . 4.169e-05 0.0001071 0.0003695 7.134e-05 42778021 GPKOW . GRCh38 chrX 49122721 49122721 + Missense_Mutation SNP G G T novel 7316-3765 BS_K4XGEGW0 G G c.232C>A p.His78Asn p.H78N ENST00000156109 2/11 63 55 7 52 52 0 GPKOW,missense_variant,p.His78Asn,ENST00000156109,NM_015698.5; T ENSG00000068394 ENST00000156109 Transcript missense_variant 311/1742 232/1431 78/476 H/N Cat/Aat 1 -1 GPKOW HGNC HGNC:30677 protein_coding YES CCDS35251.1 ENSP00000156109 Q92917 UPI000006D4D1 NM_015698.5 tolerated(0.34) benign(0.01) 2/11 hmmpanther:PTHR15818,mobidb-lite MODERATE 1 SNV 1 PASS TGG . . 49122721 CPXCR1 . GRCh38 chrX 88749431 88749431 + Splice_Region SNP C C A novel 7316-3765 BS_K4XGEGW0 C C c.-9+8C>A ENST00000276127 49 30 18 25 25 0 CPXCR1,splice_region_variant,,ENST00000276127,NM_033048.5;CPXCR1,splice_region_variant,,ENST00000373111,NM_001184771.1;CPXCR1,splice_region_variant,,ENST00000614120,; A ENSG00000147183 ENST00000276127 Transcript splice_region_variant,intron_variant 1 1 CPXCR1 HGNC HGNC:2332 protein_coding YES CCDS14458.1 ENSP00000276127 Q8N123 UPI000007369F NM_033048.5 2/2 LOW 1 SNV 1 PASS TCA . . 88749431 RBM41 . GRCh38 chrX 107115442 107115442 + Nonsense_Mutation SNP T T A novel 7316-3765 BS_K4XGEGW0 T T c.433A>T p.Lys145Ter p.K145* ENST00000372479 4/7 65 45 20 24 23 0 RBM41,stop_gained,p.Lys145Ter,ENST00000372487,NM_001324244.1,NM_001171080.1;RBM41,stop_gained,p.Lys145Ter,ENST00000372479,NM_018301.4,NM_001324243.1,NM_001324242.1;RBM41,stop_gained,p.Lys143Ter,ENST00000434854,;RBM41,non_coding_transcript_exon_variant,,ENST00000471079,;RBM41,non_coding_transcript_exon_variant,,ENST00000485676,;RBM41,non_coding_transcript_exon_variant,,ENST00000475556,;RBM41,stop_gained,p.Lys145Ter,ENST00000495517,; A ENSG00000089682 ENST00000372479 Transcript stop_gained 464/1662 433/1242 145/413 K/* Aaa/Taa 1 -1 RBM41 HGNC HGNC:25617 protein_coding YES CCDS14526.1 ENSP00000361557 Q96IZ5 UPI000013CC0E NM_018301.4,NM_001324243.1,NM_001324242.1 4/7 hmmpanther:PTHR16105:SF2,hmmpanther:PTHR16105,Gene3D:3.30.70.330 HIGH 1 SNV 1 PASS TTG . . 107115442 BGN . GRCh38 chrX 153505926 153505926 + Nonsense_Mutation SNP A A T novel 7316-3765 BS_K4XGEGW0 A A c.415A>T p.Lys139Ter p.K139* ENST00000331595 4/8 79 65 10 22 22 0 BGN,stop_gained,p.Lys139Ter,ENST00000331595,NM_001711.5;BGN,stop_gained,p.Lys156Ter,ENST00000431891,;BGN,splice_region_variant,,ENST00000472615,;BGN,non_coding_transcript_exon_variant,,ENST00000480756,;BGN,non_coding_transcript_exon_variant,,ENST00000492658,; T ENSG00000182492 ENST00000331595 Transcript stop_gained 601/2402 415/1107 139/368 K/* Aag/Tag 1 1 BGN HGNC HGNC:1044 protein_coding YES CCDS14721.1 ENSP00000327336 P21810 UPI000003BDBA NM_001711.5 4/8 Gene3D:3.80.10.10,Pfam_domain:PF13855,PIRSF_domain:PIRSF002490,PROSITE_profiles:PS51450,hmmpanther:PTHR44053,hmmpanther:PTHR44053:SF4,SMART_domains:SM00369,Superfamily_domains:SSF52058 HIGH 1 SNV 1 1 PASS GAA . . 153505926 SLC2A7 . GRCh38 chr1 9018247 9018247 + Missense_Mutation SNP G G T novel 7316-1769 BS_H4KBJDGN G G c.565C>A p.Gln189Lys p.Q189K ENST00000400906 5/12 64 31 32 34 34 0 SLC2A7,missense_variant,p.Gln189Lys,ENST00000400906,NM_207420.2; T ENSG00000197241 ENST00000400906 Transcript missense_variant 565/1539 565/1539 189/512 Q/K Cag/Aag 1 -1 SLC2A7 HGNC HGNC:13445 protein_coding YES CCDS98.2 ENSP00000383698 Q6PXP3 UPI00001A73A8 NM_207420.2 tolerated(0.57) benign(0.098) 5/12 Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR23503,hmmpanther:PTHR23503:SF30,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,cd06174 MODERATE 1 SNV 1 PASS TGG . . 9018247 AGL . GRCh38 chr1 99888028 99888028 + Missense_Mutation SNP G G T novel 7316-1769 BS_H4KBJDGN G G c.2732G>T p.Cys911Phe p.C911F ENST00000294724 21/34 100 93 7 45 44 0 AGL,missense_variant,p.Cys911Phe,ENST00000294724,NM_000028.2;AGL,missense_variant,p.Cys911Phe,ENST00000361915,NM_000642.2;AGL,missense_variant,p.Cys911Phe,ENST00000370163,NM_000643.2;AGL,missense_variant,p.Cys911Phe,ENST00000370165,NM_000644.2;AGL,missense_variant,p.Cys895Phe,ENST00000370161,NM_000645.2,NM_000646.2;AGL,3_prime_UTR_variant,,ENST00000361302,;AGL,non_coding_transcript_exon_variant,,ENST00000637337,; T ENSG00000162688 ENST00000294724 Transcript missense_variant 3210/7446 2732/4599 911/1532 C/F tGt/tTt 1 1 AGL HGNC HGNC:321 protein_coding YES CCDS759.1 ENSP00000294724 P35573 A0A0S2A4E4 UPI00001694CB NM_000028.2 deleterious(0) probably_damaging(0.993) 21/34 Pfam_domain:PF14702,hmmpanther:PTHR10569,TIGRFAM_domain:TIGR01531 MODERATE 1 SNV 1 1 PASS TGT . . 99888028 RAP1A . GRCh38 chr1 111619936 111619936 + Splice_Site SNP T T G rs1030124422 7316-1769 BS_H4KBJDGN T T c.-28+2T>G ENST00000369709 107 67 16 56 51 1 RAP1A,splice_donor_variant,,ENST00000369709,NM_001291896.1,NM_001010935.2,NM_002884.3;RAP1A,splice_donor_variant,,ENST00000433097,;RAP1A,intron_variant,,ENST00000356415,;,regulatory_region_variant,,ENSR00000011398,; G ENSG00000116473 ENST00000369709 Transcript splice_donor_variant rs1030124422 1 1 RAP1A HGNC HGNC:9855 protein_coding YES CCDS840.1 ENSP00000358723 P62834 A8KAH9 UPI0000001250 NM_001291896.1,NM_001010935.2,NM_002884.3 1/7 HIGH 1 SNV 1 1 PASS GTG . . 111619936 RAP1A . GRCh38 chr1 111619940 111619940 + Splice_Region SNP T T G rs1184050163 7316-1769 BS_H4KBJDGN T T c.-28+6T>G ENST00000369709 106 72 16 56 52 0 RAP1A,splice_region_variant,,ENST00000369709,NM_001291896.1,NM_001010935.2,NM_002884.3;RAP1A,splice_region_variant,,ENST00000433097,;RAP1A,intron_variant,,ENST00000356415,;,regulatory_region_variant,,ENSR00000011398,; G ENSG00000116473 ENST00000369709 Transcript splice_region_variant,intron_variant rs1184050163 1 1 RAP1A HGNC HGNC:9855 protein_coding YES CCDS840.1 ENSP00000358723 P62834 A8KAH9 UPI0000001250 NM_001291896.1,NM_001010935.2,NM_002884.3 1/7 LOW 1 SNV 1 1 PASS GTA . . 111619940 RFX5 . GRCh38 chr1 151346310 151346310 + Missense_Mutation SNP T T C rs777203880 7316-1769 BS_H4KBJDGN T T c.11A>G p.Asp4Gly p.D4G ENST00000290524 3/11 69 37 31 41 41 0 RFX5,missense_variant,p.Asp4Gly,ENST00000290524,NM_001025603.1,NM_000449.3;RFX5,missense_variant,p.Asp4Gly,ENST00000368870,;RFX5,missense_variant,p.Asp4Gly,ENST00000452671,;RFX5,missense_variant,p.Asp4Gly,ENST00000392746,;RFX5,missense_variant,p.Asp4Gly,ENST00000450506,;RFX5,missense_variant,p.Asp4Gly,ENST00000422595,;RFX5,missense_variant,p.Asp4Gly,ENST00000437327,;RFX5,missense_variant,p.Asp4Gly,ENST00000430227,;RFX5,missense_variant,p.Asp4Gly,ENST00000412774,;RFX5,missense_variant,p.Asp4Gly,ENST00000436271,;RFX5,missense_variant,p.Asp4Gly,ENST00000458484,;RFX5,upstream_gene_variant,,ENST00000436637,;AL391069.1,downstream_gene_variant,,ENST00000422153,;AL391069.3,upstream_gene_variant,,ENST00000455503,;RFX5,non_coding_transcript_exon_variant,,ENST00000478564,;RFX5,missense_variant,p.Asp4Gly,ENST00000444392,;RFX5,missense_variant,p.Asp4Gly,ENST00000435314,;RFX5,missense_variant,p.Asp4Gly,ENST00000452456,;RFX5,missense_variant,p.Asp4Gly,ENST00000421986,;RFX5,non_coding_transcript_exon_variant,,ENST00000494217,;RFX5,non_coding_transcript_exon_variant,,ENST00000479681,;RFX5,upstream_gene_variant,,ENST00000469513,;RFX5,upstream_gene_variant,,ENST00000475144,; C ENSG00000143390 ENST00000290524 Transcript missense_variant 190/3576 11/1851 4/616 D/G gAt/gGt rs777203880 1 -1 RFX5 HGNC HGNC:9986 protein_coding YES CCDS994.1 ENSP00000290524 P48382 UPI0000000E8B NM_001025603.1,NM_000449.3 deleterious_low_confidence(0) possibly_damaging(0.516) 3/11 mobidb-lite,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF18 MODERATE 1 SNV 1 1 PASS ATC . . 4.062e-06 8.955e-06 151346310 CRNN . GRCh38 chr1 152410124 152410124 + Missense_Mutation SNP A A C 7316-1769 BS_H4KBJDGN A A c.958T>G p.Ser320Ala p.S320A ENST00000271835 3/3 71 54 10 34 33 0 CRNN,missense_variant,p.Ser320Ala,ENST00000271835,NM_016190.2;FLG-AS1,intron_variant,,ENST00000411804,;FLG-AS1,downstream_gene_variant,,ENST00000628475,; C ENSG00000143536 ENST00000271835 Transcript missense_variant 1021/1902 958/1488 320/495 S/A Tcc/Gcc COSM6198729 1 -1 CRNN HGNC HGNC:1230 protein_coding YES CCDS1010.1 ENSP00000271835 Q9UBG3 UPI000006E106 NM_016190.2 deleterious(0.05) benign(0.011) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11639:SF26,hmmpanther:PTHR11639 1 MODERATE 1 SNV 1 1 PASS GAC . . 152410124 FAM189B . GRCh38 chr1 155250420 155250420 + Missense_Mutation SNP T T G rs1345533169 7316-1769 BS_H4KBJDGN T T c.1366A>C p.Thr456Pro p.T456P ENST00000361361 9/12 94 75 11 29 28 0 FAM189B,missense_variant,p.Thr456Pro,ENST00000361361,NM_006589.2;FAM189B,missense_variant,p.Thr438Pro,ENST00000368368,NM_001267608.1;FAM189B,missense_variant,p.Thr360Pro,ENST00000350210,NM_198264.1;FAM189B,intron_variant,,ENST00000491082,;FAM189B,intron_variant,,ENST00000621094,;FAM189B,downstream_gene_variant,,ENST00000472550,;FAM189B,non_coding_transcript_exon_variant,,ENST00000368366,;FAM189B,intron_variant,,ENST00000487649,;FAM189B,downstream_gene_variant,,ENST00000481822,;FAM189B,downstream_gene_variant,,ENST00000497941,;,regulatory_region_variant,,ENSR00000014051,; G ENSG00000160767 ENST00000361361 Transcript missense_variant 1876/3082 1366/2007 456/668 T/P Acc/Ccc rs1345533169 1 -1 FAM189B HGNC HGNC:1233 protein_coding YES CCDS1103.1 ENSP00000354958 P81408 UPI00000710DE NM_006589.2 tolerated(0.32) benign(0) 9/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR17615:SF7,hmmpanther:PTHR17615 MODERATE 1 SNV 1 PASS GTG . . 0.0004149 0.0002432 0.0008089 0.001014 0.0001481 0.0001982 0.0005258 0.0007004 155250420 DAP3P1 . GRCh38 chr1 155598922 155598922 + Splice_Region SNP A A G rs1024176267 7316-1769 BS_H4KBJDGN A A n.153+7A>G ENST00000441522 82 66 15 36 36 0 ,regulatory_region_variant,,ENSR00000014090,;DAP3P1,splice_region_variant,,ENST00000441522,; G ENSG00000225082 ENST00000441522 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1024176267 1 1 DAP3P1 HGNC HGNC:17624 unprocessed_pseudogene YES 2/2 LOW 1 SNV PASS AAC . . 155598922 IGFN1 . GRCh38 chr1 201209539 201209539 + Missense_Mutation SNP C C G rs199718718 7316-1769 BS_H4KBJDGN C C c.4646C>G p.Thr1549Arg p.T1549R ENST00000335211 12/24 91 70 14 29 27 0 IGFN1,missense_variant,p.Thr1549Arg,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 4776/11810 4646/11127 1549/3708 T/R aCg/aGg rs199718718,COSM4143162 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated_low_confidence(0.58) unknown(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS ACG . . 0.0004415 0.0009248 0.0005075 0.002509 0.0003747 0.001184 0.0001698 201209539 H3F3A . GRCh38 chr1 226064434 226064434 + Missense_Mutation SNP A A T rs1057519903 7316-1769 BS_H4KBJDGN A A c.83A>T p.Lys28Met p.K28M ENST00000366813 1/3 80 39 40 43 42 0 H3F3A,missense_variant,p.Lys28Met,ENST00000366814,;H3F3A,missense_variant,p.Lys28Met,ENST00000366813,;H3F3A,missense_variant,p.Lys28Met,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Lys28Met,ENST00000366816,;AL512343.2,upstream_gene_variant,,ENST00000609423,;,regulatory_region_variant,,ENSR00000021067,; T ENSG00000163041 ENST00000366813 Transcript missense_variant 458/1308 83/411 28/136 K/M aAg/aTg rs1057519903,COSM327928,COSM1961654 1 1 H3F3A HGNC HGNC:4764 protein_coding YES CCDS1550.1 ENSP00000355778 P84243 B2R4P9 UPI00000007B0 deleterious_low_confidence(0.01) possibly_damaging(0.697) 1/3 Gene3D:1.10.20.10,PDB-ENSP_mappings:3av2.A,PDB-ENSP_mappings:3av2.E,PDB-ENSP_mappings:3muk.D,PDB-ENSP_mappings:3wtp.E,PDB-ENSP_mappings:4h9n.A,PDB-ENSP_mappings:4h9o.A,PDB-ENSP_mappings:4h9p.A,PDB-ENSP_mappings:4h9q.A,PDB-ENSP_mappings:4h9r.A,PDB-ENSP_mappings:4h9s.A,PDB-ENSP_mappings:4h9s.B,PDB-ENSP_mappings:4hga.B,PDB-ENSP_mappings:4n4i.B,PDB-ENSP_mappings:5ay8.A,PDB-ENSP_mappings:5ay8.E,PDB-ENSP_mappings:5b32.A,PDB-ENSP_mappings:5b32.E,PDB-ENSP_mappings:5b33.A,PDB-ENSP_mappings:5b33.E,PDB-ENSP_mappings:5dwq.F,PDB-ENSP_mappings:5dwq.G,PDB-ENSP_mappings:5dx0.F,PDB-ENSP_mappings:5dx0.G,PDB-ENSP_mappings:5dx0.H,PDB-ENSP_mappings:5dx0.I,PDB-ENSP_mappings:5kdm.A,PDB-ENSP_mappings:5x7x.A,PDB-ENSP_mappings:5x7x.E,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Superfamily_domains:SSF47113,mobidb-lite likely_pathogenic 1,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS AAG . . 226064434 CEP170 . GRCh38 chr1 243164419 243164419 + Missense_Mutation SNP C C T rs769238371 7316-1769 BS_H4KBJDGN C C c.3541G>A p.Ala1181Thr p.A1181T ENST00000366542 13/20 70 54 16 32 32 0 CEP170,missense_variant,p.Ala1181Thr,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Ala1083Thr,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Ala1083Thr,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Ala1145Thr,ENST00000336415,;CEP170,missense_variant,p.Ala26Thr,ENST00000413359,;CEP170,upstream_gene_variant,,ENST00000464936,;CEP170,upstream_gene_variant,,ENST00000490813,;CEP170,upstream_gene_variant,,ENST00000492145,;AL606534.2,upstream_gene_variant,,ENST00000422938,;AL606534.2,upstream_gene_variant,,ENST00000437499,;CEP170,downstream_gene_variant,,ENST00000451408,;CEP170,downstream_gene_variant,,ENST00000518289,; T ENSG00000143702 ENST00000366542 Transcript missense_variant 3593/6828 3541/4755 1181/1584 A/T Gca/Aca rs769238371 1 -1 CEP170 HGNC HGNC:28920 protein_coding YES CCDS44339.1 ENSP00000355500 Q5SW79 UPI0000470238 NM_014812.2 tolerated(0.16) benign(0.125) 13/20 Pfam_domain:PF15308,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GCG . . 3.677e-05 7.24e-05 0.0002867 243164419 SLC8A1 . GRCh38 chr2 40428986 40428986 + Missense_Mutation SNP C C G rs879114476 7316-1769 BS_H4KBJDGN C C c.1295G>C p.Arg432Thr p.R432T ENST00000403092 2/11 80 46 33 30 30 0 SLC8A1,missense_variant,p.Arg432Thr,ENST00000406785,;SLC8A1,missense_variant,p.Arg432Thr,ENST00000403092,;SLC8A1,missense_variant,p.Arg432Thr,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Arg432Thr,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Arg432Thr,ENST00000405269,;SLC8A1,missense_variant,p.Arg432Thr,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Arg432Thr,ENST00000408028,NM_001252624.1,NM_001112801.1;SLC8A1,missense_variant,p.Arg432Thr,ENST00000406391,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,missense_variant,p.Arg429Thr,ENST00000407929,; G ENSG00000183023 ENST00000403092 Transcript missense_variant 1329/3178 1295/2922 432/973 R/T aGa/aCa rs879114476 1 -1 SLC8A1 HGNC HGNC:11068 protein_coding YES CCDS1806.1 ENSP00000384763 P32418 UPI000012FC46 tolerated(0.41) benign(0.127) 2/11 Gene3D:2.60.40.1740,Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,SMART_domains:SM00237,Superfamily_domains:SSF141072,TIGRFAM_domain:TIGR00845 MODERATE 1 SNV 1 PASS TCT . . 40428986 KIAA1211L . GRCh38 chr2 98838181 98838181 + Frame_Shift_Del DEL C C - novel 7316-1769 BS_H4KBJDGN C C c.177del p.Arg60GlyfsTer67 p.R60Gfs*67 ENST00000397899 3/10 97 44 47 60 60 0 KIAA1211L,frameshift_variant,p.Arg60GlyfsTer67,ENST00000397899,NM_207362.2;KIAA1211L,frameshift_variant,p.Arg88GlyfsTer67,ENST00000423771,;KIAA1211L,frameshift_variant,p.Arg74GlyfsTer67,ENST00000428096,;KIAA1211L,frameshift_variant,p.Arg74GlyfsTer67,ENST00000415261,;RNU7-46P,downstream_gene_variant,,ENST00000459066,;KIAA1211L,non_coding_transcript_exon_variant,,ENST00000462314,; - ENSG00000196872 ENST00000397899 Transcript frameshift_variant 509/3907 177/2889 59/962 T/X acG/ac 1 -1 KIAA1211L HGNC HGNC:33454 protein_coding YES CCDS42720.1 ENSP00000380996 Q6NV74 UPI0000E59245 NM_207362.2 3/10 mobidb-lite HIGH 1 deletion 1 PASS CTCG . . 98838180 POTEE . GRCh38 chr2 131218839 131218839 + Missense_Mutation SNP C C A novel 7316-1769 BS_H4KBJDGN C C c.437C>A p.Ala146Asp p.A146D ENST00000356920 1/15 56 46 10 49 48 0 POTEE,missense_variant,p.Ala146Asp,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Ala146Asp,ENST00000626191,;POTEE,missense_variant,p.Ala146Asp,ENST00000613282,;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,missense_variant,p.Ala146Asp,ENST00000358087,;POTEE,missense_variant,p.Ala146Asp,ENST00000514256,; A ENSG00000188219 ENST00000356920 Transcript missense_variant 773/4159 437/3228 146/1075 A/D gCt/gAt 1 1 POTEE HGNC HGNC:33895 protein_coding YES CCDS46414.1 ENSP00000439189 Q6S8J3 UPI0000F58EC8 NM_001083538.1 deleterious_low_confidence(0) probably_damaging(0.975) 1/15 Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 MODERATE 1 SNV 1 PASS GCT . . 131218839 GIGYF2 . GRCh38 chr2 232844071 232844071 + Missense_Mutation SNP T T C novel 7316-1769 BS_H4KBJDGN T T c.2978T>C p.Met993Thr p.M993T ENST00000409451 26/31 83 44 36 38 38 0 GIGYF2,start_lost,p.Met1?,ENST00000426102,;GIGYF2,missense_variant,p.Met994Thr,ENST00000629305,;GIGYF2,missense_variant,p.Met972Thr,ENST00000409547,NM_015575.3;GIGYF2,missense_variant,p.Met994Thr,ENST00000409480,;GIGYF2,missense_variant,p.Met993Thr,ENST00000409451,NM_001103147.1;GIGYF2,missense_variant,p.Met972Thr,ENST00000373563,NM_001103146.1;GIGYF2,missense_variant,p.Met966Thr,ENST00000409196,NM_001103148.1;GIGYF2,non_coding_transcript_exon_variant,,ENST00000469843,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000474312,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000471011,; C ENSG00000204120 ENST00000409451 Transcript missense_variant 3204/5937 2978/3963 993/1320 M/T aTg/aCg 1 1 GIGYF2 HGNC HGNC:11960 protein_coding YES CCDS46542.1 ENSP00000387170 Q6Y7W6 UPI00003FEC8F NM_001103147.1 deleterious(0.01) benign(0.072) 26/31 Gene3D:2.130.10.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF38,mobidb-lite MODERATE 1 SNV 1 1 PASS ATG . . 232844071 NCKIPSD . GRCh38 chr3 48683005 48683005 + Missense_Mutation SNP T T C novel 7316-1769 BS_H4KBJDGN T T c.179A>G p.Glu60Gly p.E60G ENST00000294129 2/13 74 43 30 46 46 0 NCKIPSD,missense_variant,p.Glu60Gly,ENST00000294129,NM_016453.3;NCKIPSD,missense_variant,p.Glu60Gly,ENST00000416649,NM_184231.2;NCKIPSD,missense_variant,p.Glu60Gly,ENST00000439518,;NCKIPSD,5_prime_UTR_variant,,ENST00000426678,;NCKIPSD,5_prime_UTR_variant,,ENST00000453349,;IP6K2,downstream_gene_variant,,ENST00000328631,NM_016291.3,NM_001005909.2;NCKIPSD,upstream_gene_variant,,ENST00000413374,;NCKIPSD,upstream_gene_variant,,ENST00000415281,;NCKIPSD,3_prime_UTR_variant,,ENST00000454134,;NCKIPSD,upstream_gene_variant,,ENST00000470006,; C ENSG00000213672 ENST00000294129 Transcript missense_variant 299/2989 179/2169 60/722 E/G gAg/gGg 1 -1 NCKIPSD HGNC HGNC:15486 protein_coding YES CCDS2776.1 ENSP00000294129 Q9NZQ3 UPI0000135D86 NM_016453.3 deleterious(0.01) benign(0.129) 2/13 hmmpanther:PTHR13357,hmmpanther:PTHR13357:SF1,Gene3D:2.30.30.40,Superfamily_domains:SSF50044 MODERATE 1 SNV 1 1 PASS CTC . . 48683005 CACNA2D2 . GRCh38 chr3 50365680 50365680 + Missense_Mutation SNP A A G rs1259402386 7316-1769 BS_H4KBJDGN A A c.2945T>C p.Phe982Ser p.F982S ENST00000479441 35/39 91 52 39 42 42 0 CACNA2D2,missense_variant,p.Phe975Ser,ENST00000266039,NM_001005505.2;CACNA2D2,missense_variant,p.Phe983Ser,ENST00000423994,;CACNA2D2,missense_variant,p.Phe976Ser,ENST00000429770,;CACNA2D2,missense_variant,p.Phe906Ser,ENST00000360963,NM_001291101.1;CACNA2D2,missense_variant,p.Phe975Ser,ENST00000424201,NM_006030.3;CACNA2D2,missense_variant,p.Phe982Ser,ENST00000479441,NM_001174051.2;Z84492.1,intron_variant,,ENST00000606589,;CYB561D2,non_coding_transcript_exon_variant,,ENST00000607121,;CYB561D2,non_coding_transcript_exon_variant,,ENST00000606665,;CYB561D2,non_coding_transcript_exon_variant,,ENST00000606259,;CYB561D2,non_coding_transcript_exon_variant,,ENST00000607583,;CYB561D2,upstream_gene_variant,,ENST00000607088,;CYB561D2,upstream_gene_variant,,ENST00000607362,;CACNA2D2,non_coding_transcript_exon_variant,,ENST00000483620,; G ENSG00000007402 ENST00000479441 Transcript missense_variant 2945/3453 2945/3453 982/1150 F/S tTc/tCc rs1259402386 1 -1 CACNA2D2 HGNC HGNC:1400 protein_coding YES CCDS54588.1 ENSP00000418081 Q9NY47 UPI0000E5A6AF NM_001174051.2 deleterious(0) possibly_damaging(0.648) 35/39 Pfam_domain:PF08473,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF7 MODERATE 1 SNV 1 PASS GAA . . 5.003e-06 0.000216 50365680 ABHD14B . GRCh38 chr3 51970130 51970130 + Missense_Mutation SNP G G A novel 7316-1769 BS_H4KBJDGN G G c.266C>T p.Pro89Leu p.P89L ENST00000483233 4/5 85 58 26 52 52 0 ABHD14B,missense_variant,p.Pro89Leu,ENST00000483233,;ABHD14B,missense_variant,p.Pro89Leu,ENST00000395008,NM_032750.2;ABHD14B,missense_variant,p.Pro89Leu,ENST00000361143,NM_001146314.1;ABHD14B,missense_variant,p.Pro89Leu,ENST00000461108,;ABHD14B,missense_variant,p.Pro89Leu,ENST00000525795,;ABHD14B,splice_region_variant,,ENST00000315877,;PCBP4,intron_variant,,ENST00000489595,;ABHD14A,upstream_gene_variant,,ENST00000273596,NM_015407.4;PCBP4,upstream_gene_variant,,ENST00000355852,NM_033008.2;ABHD14A,upstream_gene_variant,,ENST00000458031,;PCBP4,upstream_gene_variant,,ENST00000461544,;PCBP4,upstream_gene_variant,,ENST00000461554,NM_001174100.1;ABHD14A-ACY1,upstream_gene_variant,,ENST00000463937,;PCBP4,upstream_gene_variant,,ENST00000466412,;PCBP4,upstream_gene_variant,,ENST00000468324,;PCBP4,upstream_gene_variant,,ENST00000483411,;PCBP4,upstream_gene_variant,,ENST00000484633,NM_020418.3;PCBP4,upstream_gene_variant,,ENST00000490063,;ABHD14A,upstream_gene_variant,,ENST00000491470,;ABHD14A,upstream_gene_variant,,ENST00000494478,;PCBP4,upstream_gene_variant,,ENST00000497653,;ABHD14A,upstream_gene_variant,,ENST00000497864,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000635952,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000637222,;ABHD14B,non_coding_transcript_exon_variant,,ENST00000487005,NM_001254753.1;AC115284.1,intron_variant,,ENST00000488257,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000463721,;PCBP4,upstream_gene_variant,,ENST00000471308,;PCBP4,upstream_gene_variant,,ENST00000471358,;ABHD14B,downstream_gene_variant,,ENST00000473912,;ABHD14A,upstream_gene_variant,,ENST00000474575,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000486081,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000497128,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000635937,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000635946,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000635951,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000636029,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000636085,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000636089,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000636490,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000636646,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000636718,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000636826,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000636942,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000637025,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000637130,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000637563,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000637696,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000637778,; A ENSG00000114779 ENST00000483233 Transcript missense_variant 773/2056 266/633 89/210 P/L cCt/cTt 1 -1 ABHD14B HGNC HGNC:28235 protein_coding YES CCDS2842.1 ENSP00000420065 Q96IU4 V9HW87 UPI000006F0B7 deleterious(0.03) benign(0.432) 4/5 Gene3D:3.40.50.1820,Pfam_domain:PF12697,hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF1000,Superfamily_domains:SSF53474 MODERATE 1 SNV 1 PASS AGG . . 51970130 DZIP3 . GRCh38 chr3 108625970 108625970 + Splice_Site SNP G G C novel 7316-1769 BS_H4KBJDGN G G c.581+1G>C p.X194_splice ENST00000361582 102 58 44 34 33 0 DZIP3,splice_donor_variant,,ENST00000361582,NM_014648.3;DZIP3,splice_donor_variant,,ENST00000463306,;DZIP3,splice_donor_variant,,ENST00000479138,;DZIP3,splice_donor_variant,,ENST00000486815,;DZIP3,splice_donor_variant,,ENST00000495008,; C ENSG00000198919 ENST00000361582 Transcript splice_donor_variant 1 1 DZIP3 HGNC HGNC:30938 protein_coding YES CCDS2952.1 ENSP00000355028 Q86Y13 UPI000006E7D4 NM_014648.3 7/32 HIGH 1 SNV 1 PASS GGT . . 108625970 AADACL2 . GRCh38 chr3 151734128 151734128 + Nonsense_Mutation SNP G G A 7316-1769 BS_H4KBJDGN G G c.93G>A p.Trp31Ter p.W31* ENST00000356517 1/5 93 86 6 39 38 0 AADACL2,stop_gained,p.Trp31Ter,ENST00000356517,NM_207365.3;AADACL2,stop_gained,p.Trp31Ter,ENST00000445270,; A ENSG00000197953 ENST00000356517 Transcript stop_gained 202/1487 93/1206 31/401 W/* tgG/tgA COSM3588854,COSM3588853 1 1 AADACL2 HGNC HGNC:24427 protein_coding YES CCDS3161.2 ENSP00000348911 Q6P093 UPI000015F144 NM_207365.3 1/5 PIRSF_domain:PIRSF037251,hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF223 1,1 HIGH 1 SNV 1 1,1 PASS GGA . . 151734128 SLC7A14 . GRCh38 chr3 170526669 170526669 + Missense_Mutation SNP A A G novel 7316-1769 BS_H4KBJDGN A A c.268T>C p.Ser90Pro p.S90P ENST00000231706 2/8 76 41 33 36 36 0 SLC7A14,missense_variant,p.Ser90Pro,ENST00000231706,NM_020949.2;AC026316.5,intron_variant,,ENST00000486975,;AC026316.4,intron_variant,,ENST00000480067,;AC026316.4,intron_variant,,ENST00000643719,;AC026316.4,intron_variant,,ENST00000644993,; G ENSG00000013293 ENST00000231706 Transcript missense_variant 584/10103 268/2316 90/771 S/P Tcc/Ccc 1 -1 SLC7A14 HGNC HGNC:29326 protein_coding YES CCDS33892.1 ENSP00000231706 Q8TBB6 UPI0000051F6B NM_020949.2 deleterious(0) probably_damaging(0.998) 2/8 Pfam_domain:PF13520,hmmpanther:PTHR43243,hmmpanther:PTHR43243:SF25,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS GAC . . 170526669 PIK3CA . GRCh38 chr3 179218308 179218308 + Missense_Mutation SNP G G C 7316-1769 BS_H4KBJDGN G G c.1638G>C p.Gln546His p.Q546H ENST00000263967 10/21 124 62 60 41 41 0 PIK3CA,missense_variant,p.Gln546His,ENST00000263967,NM_006218.3;PIK3CA,missense_variant,p.Gln546His,ENST00000643187,;PIK3CA,upstream_gene_variant,,ENST00000462255,; C ENSG00000121879 ENST00000263967 Transcript missense_variant 1795/9093 1638/3207 546/1068 Q/H caG/caC COSM5881065,COSM5881064,COSM5622324,COSM3205634,COSM24712 1 1 PIK3CA HGNC HGNC:8975 protein_coding YES CCDS43171.1 ENSP00000263967 P42336 UPI000013D494 NM_006218.3 tolerated(0.06) probably_damaging(0.986) 10/21 Gene3D:1.25.40.70,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:3zim.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5dxt.A,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5ubr.A,PDB-ENSP_mappings:5uk8.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,Pfam_domain:PF00613,PIRSF_domain:PIRSF000587,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF94,SMART_domains:SM00145,Superfamily_domains:SSF48371,cd00872 1,1,1,1,1 MODERATE 1 SNV 2 1,1,1,1,1 1 PASS AGG . . 179218308 PIK3CA . GRCh38 chr3 179234230 179234230 + Missense_Mutation SNP A A G rs397517202 7316-1769 BS_H4KBJDGN A A c.3073A>G p.Thr1025Ala p.T1025A ENST00000263967 21/21 86 49 37 41 41 0 PIK3CA,missense_variant,p.Thr1025Ala,ENST00000263967,NM_006218.3;PIK3CA,3_prime_UTR_variant,,ENST00000643187,;KCNMB3,downstream_gene_variant,,ENST00000485523,NM_171829.2; G ENSG00000121879 ENST00000263967 Transcript missense_variant 3230/9093 3073/3207 1025/1068 T/A Acc/Gcc rs397517202,CM126696,COSM771,COSM6023925,COSM303901,COSM12590,COSM1041520,COSM1041519 1 1 PIK3CA HGNC HGNC:8975 protein_coding YES CCDS43171.1 ENSP00000263967 P42336 UPI000013D494 NM_006218.3 deleterious(0.01) benign(0.207) 21/21 Gene3D:1.10.1070.11,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:3zim.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5dxt.A,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5ubr.A,PDB-ENSP_mappings:5uk8.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,PIRSF_domain:PIRSF000587,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF94,SMART_domains:SM00146,Superfamily_domains:SSF56112,cd05175 pathogenic 0,0,1,1,1,1,1,1 24033266 MODERATE 1 SNV 2 1,1,1,1,1,1,1,1 1 PASS GAC . . 179234230 MUC4 . GRCh38 chr3 195788516 195788516 + Missense_Mutation SNP T T C rs13065584 7316-1769 BS_H4KBJDGN T T c.3064A>G p.Thr1022Ala p.T1022A ENST00000463781 2/25 74 54 8 34 32 0 MUC4,missense_variant,p.Thr1022Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr1022Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr1022Ala,ENST00000478156,;MUC4,missense_variant,p.Thr1022Ala,ENST00000466475,;MUC4,missense_variant,p.Thr1022Ala,ENST00000477756,;MUC4,missense_variant,p.Thr1022Ala,ENST00000477086,;MUC4,missense_variant,p.Thr1022Ala,ENST00000480843,;MUC4,missense_variant,p.Thr1022Ala,ENST00000462323,;MUC4,missense_variant,p.Thr1022Ala,ENST00000470451,;MUC4,missense_variant,p.Thr1022Ala,ENST00000479406,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 3524/17110 3064/16239 1022/5412 T/A Acc/Gcc rs13065584,COSM1131503 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.65) benign(0.224) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668,hmmpanther:PTHR42668 0.2831 0.2837 0.2478 0.3472 0.2614 0.2638 0,1 MODERATE 1 SNV 5 0,1 1 PASS GTG . . 0.003222 0.02009 0.00159 0.002173 0.001119 0.0009251 0.003142 0.002034 0.0006607 195788516 UGT2B28 . GRCh38 chr4 69280871 69280871 + Missense_Mutation SNP G G T novel 7316-1769 BS_H4KBJDGN G G c.371G>T p.Arg124Ile p.R124I ENST00000335568 1/6 91 80 8 40 39 0 UGT2B28,missense_variant,p.Arg124Ile,ENST00000335568,NM_053039.1;UGT2B28,missense_variant,p.Arg124Ile,ENST00000511240,NM_001207004.1; T ENSG00000135226 ENST00000335568 Transcript missense_variant 373/1833 371/1590 124/529 R/I aGa/aTa 1 1 UGT2B28 HGNC HGNC:13479 protein_coding YES CCDS3528.1 ENSP00000334276 Q9BY64 UPI0000137A9F NM_053039.1 tolerated(0.17) benign(0.003) 1/6 Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF757,Superfamily_domains:SSF53756,cd03784 MODERATE 1 SNV 1 PASS AGA . . 69280871 ANKRD17 . GRCh38 chr4 73156117 73156117 + Nonsense_Mutation SNP T T A novel 7316-1769 BS_H4KBJDGN T T c.754A>T p.Lys252Ter p.K252* ENST00000358602 4/34 70 40 30 46 46 0 ANKRD17,stop_gained,p.Lys252Ter,ENST00000358602,NM_032217.4,NM_015574.1;ANKRD17,stop_gained,p.Lys137Ter,ENST00000558247,;ANKRD17,stop_gained,p.Lys139Ter,ENST00000509867,NM_001286771.2;ANKRD17,stop_gained,p.Lys252Ter,ENST00000330838,NM_198889.2;ANKRD17,stop_gained,p.Lys252Ter,ENST00000639793,;ANKRD17,intron_variant,,ENST00000561029,;ANKRD17,upstream_gene_variant,,ENST00000514252,; A ENSG00000132466 ENST00000358602 Transcript stop_gained 871/10784 754/7812 252/2603 K/* Aag/Tag 1 -1 ANKRD17 HGNC HGNC:23575 protein_coding YES CCDS34004.1 ENSP00000351416 O75179 UPI00002263B0 NM_032217.4,NM_015574.1 4/34 Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR23206,hmmpanther:PTHR23206:SF1,SMART_domains:SM00248,Superfamily_domains:SSF48403 HIGH 1 SNV 5 PASS TTT . . 73156117 ANK2 . GRCh38 chr4 113355238 113355238 + Missense_Mutation SNP A A G rs751525740 7316-1769 BS_H4KBJDGN A A c.6620A>G p.Asn2207Ser p.N2207S ENST00000357077 38/46 92 83 8 43 43 0 ANK2,missense_variant,p.Asn2207Ser,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Asn2174Ser,ENST00000264366,;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1,NM_001354237.1,NM_001354252.1;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000514960,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,upstream_gene_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,; G ENSG00000145362 ENST00000357077 Transcript missense_variant 6673/14196 6620/11874 2207/3957 N/S aAt/aGt rs751525740 1 1 ANK2 HGNC HGNC:493 protein_coding YES CCDS3702.1 ENSP00000349588 Q01484 UPI0000441EF3 NM_001148.4 deleterious_low_confidence(0.03) benign(0.014) 38/46 mobidb-lite,hmmpanther:PTHR45340 MODERATE 1 SNV 1 1 PASS AAT . . 4.077e-06 3.249e-05 113355238 CDH9 . GRCh38 chr5 26889901 26889901 + Missense_Mutation SNP C C A novel 7316-1769 BS_H4KBJDGN C C c.1447G>T p.Asp483Tyr p.D483Y ENST00000231021 9/12 83 49 30 42 41 1 CDH9,missense_variant,p.Asp483Tyr,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,; A ENSG00000113100 ENST00000231021 Transcript missense_variant 1620/3079 1447/2370 483/789 D/Y Gac/Tac 1 -1 CDH9 HGNC HGNC:1768 protein_coding YES CCDS3893.1 ENSP00000231021 Q9ULB4 UPI000013C945 NM_016279.3 deleterious(0.01) possibly_damaging(0.56) 9/12 Gene3D:2.60.350.10,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,cd11304 MODERATE 1 SNV 1 PASS TCA . . 26889901 TRIM41 . GRCh38 chr5 181224719 181224728 + Frame_Shift_Del DEL AGACGAAGAG AGACGAAGAG - novel 7316-1769 BS_H4KBJDGN AGACGAAGAG AGACGAAGAG c.720_729del p.Asp241ProfsTer38 p.D241Pfs*38 ENST00000315073 1/6 75 45 27 35 35 0 TRIM41,frameshift_variant,p.Asp241ProfsTer38,ENST00000315073,NM_033549.4;TRIM41,frameshift_variant,p.Asp241ProfsTer38,ENST00000351937,NM_201627.2;TRIM41,intron_variant,,ENST00000515499,;MIR4638,upstream_gene_variant,,ENST00000581158,;AC008443.2,non_coding_transcript_exon_variant,,ENST00000499096,;TRIM41,frameshift_variant,p.Asp222ProfsTer38,ENST00000503114,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515834,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,; - ENSG00000146063 ENST00000315073 Transcript frameshift_variant 1430-1439/3637 720-729/1893 240-243/630 VDEE/X gtAGACGAAGAG/gt 1 1 TRIM41 HGNC HGNC:19013 protein_coding YES CCDS4466.1 ENSP00000320869 Q8WV44 UPI00001B248B NM_033549.4 1/6 cd00021,Gene3D:3.30.40.10,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845,PROSITE_profiles:PS50119,hmmpanther:PTHR45165 HIGH 1 deletion 1 PASS GTAGACGAAGAGG . . 181224718 EGFL8 . GRCh38 chr6 32166601 32166601 + Missense_Mutation SNP C C T rs141849753 7316-1769 BS_H4KBJDGN C C c.205C>T p.Arg69Cys p.R69C ENST00000395512 3/9 95 57 38 46 46 0 EGFL8,missense_variant,p.Arg69Cys,ENST00000395512,;EGFL8,missense_variant,p.Arg69Cys,ENST00000333845,NM_030652.3;EGFL8,missense_variant,p.Arg69Cys,ENST00000432129,;PPT2,downstream_gene_variant,,ENST00000324816,NM_005155.6,NM_001204103.1;AGPAT1,downstream_gene_variant,,ENST00000336984,NM_032741.4;PPT2,downstream_gene_variant,,ENST00000361568,NM_138717.2;AGPAT1,downstream_gene_variant,,ENST00000375104,;AGPAT1,downstream_gene_variant,,ENST00000375107,NM_006411.3;PPT2,downstream_gene_variant,,ENST00000375137,;PPT2,downstream_gene_variant,,ENST00000375143,;AGPAT1,downstream_gene_variant,,ENST00000395496,;AGPAT1,downstream_gene_variant,,ENST00000395497,;AGPAT1,downstream_gene_variant,,ENST00000395499,;PPT2,downstream_gene_variant,,ENST00000395523,;MIR6721,downstream_gene_variant,,ENST00000617181,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;AGPAT1,downstream_gene_variant,,ENST00000476663,;EGFL8,upstream_gene_variant,,ENST00000489721,;AGPAT1,downstream_gene_variant,,ENST00000490711,;PPT2,downstream_gene_variant,,ENST00000493548,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000422437,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000428388,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000583227,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000421600,;EGFL8,non_coding_transcript_exon_variant,,ENST00000466239,;EGFL8,non_coding_transcript_exon_variant,,ENST00000482938,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,; T ENSG00000241404 ENST00000395512 Transcript missense_variant 310/1312 205/882 69/293 R/C Cgc/Tgc rs141849753,COSM5508053 1 1 EGFL8 HGNC HGNC:13944 protein_coding YES CCDS4743.1 ENSP00000378888 Q99944 A0A1U9X7N9 UPI000006FB40 deleterious(0) probably_damaging(0.95) 3/9 PROSITE_profiles:PS51041,hmmpanther:PTHR14949,hmmpanther:PTHR14949:SF27,Pfam_domain:PF07546 0.0001846 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 0.0001221 0.000132 0.0002157 0.00013 32166601 ADGRF4 . GRCh38 chr6 47717293 47717293 + Missense_Mutation SNP T T C novel 7316-1769 BS_H4KBJDGN T T c.1976T>C p.Ile659Thr p.I659T ENST00000283303 8/10 88 54 32 29 29 0 ADGRF4,missense_variant,p.Ile659Thr,ENST00000283303,NM_153838.3;ADGRF4,missense_variant,p.Ile716Thr,ENST00000371220,;ADGRF4,missense_variant,p.Ile659Thr,ENST00000327753,NM_001347855.1;RN7SKP116,downstream_gene_variant,,ENST00000516902,; C ENSG00000153294 ENST00000283303 Transcript missense_variant,splice_region_variant 2234/3162 1976/2088 659/695 I/T aTa/aCa 1 1 ADGRF4 HGNC HGNC:19011 protein_coding YES CCDS4922.2 ENSP00000283303 Q8IZF3 UPI000046FF2B NM_153838.3 tolerated(0.24) benign(0.021) 8/10 Gene3D:1.20.1070.10,Prints_domain:PR01695,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF229,Superfamily_domains:SSF81321,cd15994 MODERATE 1 SNV 1 PASS ATA . . 47717293 EYS . GRCh38 chr6 63984551 63984551 + Missense_Mutation SNP T T C novel 7316-1769 BS_H4KBJDGN T T c.6887A>G p.His2296Arg p.H2296R ENST00000370621 35/44 93 75 18 38 37 0 EYS,missense_variant,p.His2296Arg,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.His2296Arg,ENST00000370621,NM_001292009.1;EYS,missense_variant,p.His68Arg,ENST00000398580,; C ENSG00000188107 ENST00000370621 Transcript missense_variant 7414/10485 6887/9498 2296/3165 H/R cAt/cGt 1 -1 EYS HGNC HGNC:21555 protein_coding YES CCDS78156.1 ENSP00000359655 Q5T1H1 UPI0001AE72B3 NM_001292009.1 tolerated(0.19) possibly_damaging(0.711) 35/44 Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899,cd00110 MODERATE 1 SNV 1 1 PASS ATG . . 63984551 SMAP1 . GRCh38 chr6 70857954 70857955 + Frame_Shift_Ins INS - - C novel 7316-1769 BS_H4KBJDGN - - c.996dup p.Ser333LeufsTer76 p.S333Lfs*76 ENST00000370455 10/11 75 34 33 46 45 0 SMAP1,frameshift_variant,p.Ser333LeufsTer76,ENST00000370455,NM_001044305.2;SMAP1,frameshift_variant,p.Ser323LeufsTer76,ENST00000619054,NM_001281440.1;SMAP1,frameshift_variant,p.Ser306LeufsTer76,ENST00000370452,NM_001281439.1;SMAP1,frameshift_variant,p.Ser306LeufsTer76,ENST00000316999,NM_021940.4;B3GAT2,3_prime_UTR_variant,,ENST00000230053,NM_080742.2;B3GAT2,3_prime_UTR_variant,,ENST00000615536,; C ENSG00000112305 ENST00000370455 Transcript frameshift_variant 1242-1243/3333 994-995/1404 332/467 T/TX acc/aCcc 1 1 SMAP1 HGNC HGNC:19651 protein_coding YES CCDS43478.1 ENSP00000359484 Q8IYB5 UPI00000727D6 NM_001044305.2 10/11 hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF214 HIGH 1 insertion 1 2 PASS TAC . . 70857954 FNDC1 . GRCh38 chr6 159239706 159239706 + Missense_Mutation SNP C C T rs368313455 7316-1769 BS_H4KBJDGN C C c.4370C>T p.Thr1457Met p.T1457M ENST00000297267 14/23 73 34 38 39 39 0 FNDC1,missense_variant,p.Thr1457Met,ENST00000297267,NM_032532.2;FNDC1,missense_variant,p.Thr1353Met,ENST00000329629,;FNDC1-IT1,upstream_gene_variant,,ENST00000419703,; T ENSG00000164694 ENST00000297267 Transcript missense_variant 4570/6552 4370/5685 1457/1894 T/M aCg/aTg rs368313455,COSM5997108 1 1 FNDC1 HGNC HGNC:21184 protein_coding YES CCDS47512.1 ENSP00000297267 Q4ZHG4 UPI0000579B80 NM_032532.2 deleterious_low_confidence(0.05) benign(0.035) 14/23 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8 0.0002682 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 3.344e-05 4.267e-05 9.831e-05 3.462e-05 0.000261 159239706 PHF14 . GRCh38 chr7 10982580 10982580 + Missense_Mutation SNP T T A novel 7316-1769 BS_H4KBJDGN T T c.321T>A p.Asn107Lys p.N107K ENST00000403050 3/17 78 67 7 44 43 0 PHF14,missense_variant,p.Asn107Lys,ENST00000403050,NM_014660.3;PHF14,missense_variant,p.Asn107Lys,ENST00000634607,;PHF14,intron_variant,,ENST00000642461,;PHF14,intron_variant,,ENST00000476009,;PHF14,non_coding_transcript_exon_variant,,ENST00000490957,;PHF14,intron_variant,,ENST00000423760,;PHF14,intron_variant,,ENST00000521747,; A ENSG00000106443 ENST00000403050 Transcript missense_variant 773/4276 321/2667 107/888 N/K aaT/aaA 1 1 PHF14 HGNC HGNC:22203 protein_coding YES CCDS47542.1 ENSP00000385795 O94880 UPI000020EB41 NM_014660.3 tolerated_low_confidence(0.45) benign(0.001) 3/17 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF103 MODERATE 1 SNV 1 PASS ATG . . 10982580 HOXA4 . GRCh38 chr7 27129268 27129268 + Missense_Mutation SNP T T G novel 7316-1769 BS_H4KBJDGN T T c.920A>C p.His307Pro p.H307P ENST00000360046 2/2 68 51 12 31 26 1 HOXA4,missense_variant,p.His307Pro,ENST00000360046,;HOXA4,missense_variant,p.His307Pro,ENST00000610970,NM_002141.4;HOXA4,missense_variant,p.His307Pro,ENST00000428284,;HOXA4,missense_variant,p.His127Pro,ENST00000511914,;HOXA3,intron_variant,,ENST00000317201,;HOXA3,intron_variant,,ENST00000522788,;HOXA3,upstream_gene_variant,,ENST00000612286,NM_153631.2;HOXA-AS2,intron_variant,,ENST00000521159,;HOXA-AS2,downstream_gene_variant,,ENST00000517550,;HOXA-AS3,upstream_gene_variant,,ENST00000518848,;HOXA-AS2,downstream_gene_variant,,ENST00000521687,;AC004080.6,non_coding_transcript_exon_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000518451,;HOXA3,intron_variant,,ENST00000521401,; G ENSG00000197576 ENST00000360046 Transcript missense_variant 986/1747 920/963 307/320 H/P cAc/cCc 1 -1 HOXA4 HGNC HGNC:5105 protein_coding YES CCDS5405.1 ENSP00000353151 Q00056 UPI000013C810 deleterious_low_confidence(0.03) benign(0.133) 2/2 hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF211,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 27129268 CYP3A7 . GRCh38 chr7 99717226 99717226 + Nonsense_Mutation SNP T T A novel 7316-1769 BS_H4KBJDGN T T c.472A>T p.Arg158Ter p.R158* ENST00000336374 6/13 85 51 33 29 29 0 CYP3A7,stop_gained,p.Arg158Ter,ENST00000336374,NM_000765.4;CYP3A7,stop_gained,p.Arg158Ter,ENST00000620220,;CYP3A7-CYP3A51P,stop_gained,p.Arg158Ter,ENST00000611620,NM_001256497.2;CYP3A7,non_coding_transcript_exon_variant,,ENST00000477357,;CYP3A7,non_coding_transcript_exon_variant,,ENST00000498080,; A ENSG00000160870 ENST00000336374 Transcript stop_gained 475/1971 472/1512 158/503 R/* Aga/Tga 1 -1 CYP3A7 HGNC HGNC:2640 protein_coding YES CCDS5673.1 ENSP00000337450 P24462 UPI00001281C6 NM_000765.4 6/13 hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF31,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264 HIGH 1 SNV 1 PASS CTC . . 99717226 TRIP6 . GRCh38 chr7 100870425 100870425 + Missense_Mutation SNP T T C novel 7316-1769 BS_H4KBJDGN T T c.791T>C p.Val264Ala p.V264A ENST00000200457 5/9 86 49 34 49 46 0 TRIP6,missense_variant,p.Val264Ala,ENST00000200457,NM_003302.2;TRIP6,missense_variant,p.Val38Ala,ENST00000429658,;TRIP6,3_prime_UTR_variant,,ENST00000619988,;SLC12A9,downstream_gene_variant,,ENST00000354161,NM_020246.3;SLC12A9,downstream_gene_variant,,ENST00000415287,NM_001267814.1;SRRT,upstream_gene_variant,,ENST00000431645,;SLC12A9,downstream_gene_variant,,ENST00000540482,NM_001267812.1;SRRT,upstream_gene_variant,,ENST00000611405,NM_015908.5;SRRT,upstream_gene_variant,,ENST00000614484,NM_001128852.1;SRRT,upstream_gene_variant,,ENST00000618262,NM_001128853.1;SRRT,upstream_gene_variant,,ENST00000618411,NM_001128854.1;MIR6875,downstream_gene_variant,,ENST00000617506,;SLC12A9,downstream_gene_variant,,ENST00000482184,;TRIP6,3_prime_UTR_variant,,ENST00000417475,;TRIP6,3_prime_UTR_variant,,ENST00000437505,;TRIP6,non_coding_transcript_exon_variant,,ENST00000476870,;TRIP6,non_coding_transcript_exon_variant,,ENST00000463125,;SLC12A9,downstream_gene_variant,,ENST00000467972,;SLC12A9,downstream_gene_variant,,ENST00000475687,;SLC12A9,downstream_gene_variant,,ENST00000487651,;TRIP6,upstream_gene_variant,,ENST00000488670,;TRIP6,downstream_gene_variant,,ENST00000496260,;SRRT,upstream_gene_variant,,ENST00000614370,;SRRT,upstream_gene_variant,,ENST00000620394,; C ENSG00000087077 ENST00000200457 Transcript missense_variant 1151/1942 791/1431 264/476 V/A gTt/gCt 1 1 TRIP6 HGNC HGNC:12311 protein_coding YES CCDS5708.1 ENSP00000200457 Q15654 UPI00000012CD NM_003302.2 deleterious(0) possibly_damaging(0.9) 5/9 Gene3D:2.10.110.10,hmmpanther:PTHR24212,hmmpanther:PTHR24212:SF7 MODERATE 1 SNV 1 PASS GTT . . 100870425 FBXL13 . GRCh38 chr7 102813509 102813509 + Missense_Mutation SNP A A G novel 7316-1769 BS_H4KBJDGN A A c.2041T>C p.Ser681Pro p.S681P ENST00000313221 20/20 92 48 44 43 43 0 FBXL13,missense_variant,p.Ser681Pro,ENST00000313221,NM_145032.3;FBXL13,missense_variant,p.Ser681Pro,ENST00000436908,;FBXL13,missense_variant,p.Ser653Pro,ENST00000379305,NM_001287150.1;FBXL13,missense_variant,p.Ser636Pro,ENST00000455112,NM_001111038.1;FBXL13,missense_variant,p.Ser399Pro,ENST00000456695,;FBXL13,3_prime_UTR_variant,,ENST00000379308,;FAM185A,downstream_gene_variant,,ENST00000409231,NM_001145269.1;FBXL13,non_coding_transcript_exon_variant,,ENST00000480422,;FBXL13,3_prime_UTR_variant,,ENST00000448002,;FAM185A,downstream_gene_variant,,ENST00000420217,;FAM185A,downstream_gene_variant,,ENST00000442873,; G ENSG00000161040 ENST00000313221 Transcript missense_variant 2468/2744 2041/2208 681/735 S/P Tct/Cct 1 -1 FBXL13 HGNC HGNC:21658 protein_coding YES CCDS5726.1 ENSP00000321927 Q8NEE6 UPI000020F830 NM_145032.3 tolerated(0.09) possibly_damaging(0.548) 20/20 hmmpanther:PTHR44610,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047 MODERATE 1 SNV 2 PASS GAT . . 102813509 PUS7 . GRCh38 chr7 105482444 105482444 + Splice_Region SNP T T A rs551425888 7316-1769 BS_H4KBJDGN T T c.921-4A>T ENST00000356362 87 69 10 48 48 0 PUS7,splice_region_variant,,ENST00000356362,NM_001318164.1,NM_001318163.1,NM_019042.4;PUS7,splice_region_variant,,ENST00000469408,;PUS7,splice_region_variant,,ENST00000481939,; A ENSG00000091127 ENST00000356362 Transcript splice_region_variant,intron_variant rs551425888,COSM6233600 1 -1 PUS7 HGNC HGNC:26033 protein_coding YES CCDS34725.1 ENSP00000348722 Q96PZ0 UPI00001D483E NM_001318164.1,NM_001318163.1,NM_019042.4 7/15 0.0006 0.0023 0,1 LOW 1 SNV 2 0,1 PASS TTA . . 0.0005181 0.0004843 0.0009666 0.00121 0.0005591 0.001106 0.0003155 0.0005528 0.0003052 105482444 POT1 . GRCh38 chr7 124841037 124841037 + Frame_Shift_Del DEL T T - novel 7316-1769 BS_H4KBJDGN T T c.1305del p.Val436PhefsTer4 p.V436Ffs*4 ENST00000357628 14/19 87 44 38 36 36 0 POT1,frameshift_variant,p.Val436PhefsTer4,ENST00000357628,NM_015450.2;POT1,frameshift_variant,p.Val305PhefsTer4,ENST00000393329,NM_001042594.1;POT1,frameshift_variant,p.Val57PhefsTer4,ENST00000608200,;POT1,frameshift_variant,p.Val436PhefsTer4,ENST00000609106,;POT1,frameshift_variant,p.Val436PhefsTer4,ENST00000607932,;POT1,3_prime_UTR_variant,,ENST00000608057,;POT1,non_coding_transcript_exon_variant,,ENST00000466483,; - ENSG00000128513 ENST00000357628 Transcript frameshift_variant 1904/4080 1305/1905 435/634 A/X gcA/gc 1 -1 POT1 HGNC HGNC:17284 protein_coding YES CCDS5793.1 ENSP00000350249 Q9NUX5 A0A024R739 UPI0000073E3F NM_015450.2 14/19 hmmpanther:PTHR14513:SF2,hmmpanther:PTHR14513,Gene3D:2.40.50.140 HIGH 1 deletion 2 1 PASS ACTG . . 124841036 CA3 . GRCh38 chr8 85445165 85445165 + Missense_Mutation SNP G G A 7316-1769 BS_H4KBJDGN G G c.454G>A p.Glu152Lys p.E152K ENST00000285381 5/7 70 46 23 37 37 0 CA3,missense_variant,p.Glu152Lys,ENST00000285381,NM_005181.3;CA3,downstream_gene_variant,,ENST00000520921,;CA3-AS1,intron_variant,,ENST00000517697,;CA3-AS1,intron_variant,,ENST00000521761,;CA3,downstream_gene_variant,,ENST00000522207,; A ENSG00000164879 ENST00000285381 Transcript missense_variant 537/1753 454/783 152/260 E/K Gag/Aag COSM6181896 1 1 CA3 HGNC HGNC:1374 protein_coding YES CCDS6238.1 ENSP00000285381 P07451 V9HWA3 UPI0000049C1A NM_005181.3 tolerated(0.8) benign(0.065) 5/7 PDB-ENSP_mappings:1z93.A,PDB-ENSP_mappings:1z97.A,PDB-ENSP_mappings:2hfw.A,PDB-ENSP_mappings:3uyn.A,PDB-ENSP_mappings:3uyq.A,PROSITE_profiles:PS51144,cd03119,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF127,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069 1 MODERATE 1 SNV 1 1 PASS TGA . . 85445165 LINGO2 . GRCh38 chr9 27949503 27949503 + Missense_Mutation SNP T T C novel 7316-1769 BS_H4KBJDGN T T c.1169A>G p.Glu390Gly p.E390G ENST00000379992 6/6 53 48 5 32 32 0 LINGO2,missense_variant,p.Glu390Gly,ENST00000379992,NM_152570.2,NM_001258282.1;LINGO2,missense_variant,p.Glu390Gly,ENST00000308675,;LINGO2,missense_variant,p.Glu390Gly,ENST00000613945,; C ENSG00000174482 ENST00000379992 Transcript missense_variant 1619/3044 1169/1821 390/606 E/G gAg/gGg 1 -1 LINGO2 HGNC HGNC:21207 protein_coding YES CCDS6524.1 ENSP00000369328 Q7L985 UPI000004C7CD NM_152570.2,NM_001258282.1 tolerated(1) benign(0) 6/6 Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38 MODERATE 1 SNV 5 PASS CTC . . 27949503 TTLL11 . GRCh38 chr9 122093181 122093183 + In_Frame_Del DEL CCG CCG - rs754929160 7316-1769 BS_H4KBJDGN CCG CCG c.236_238del p.Ala79del p.A79del ENST00000321582 1/9 86 69 6 66 61 0 TTLL11,inframe_deletion,p.Ala79del,ENST00000321582,NM_001139442.1;TTLL11,inframe_deletion,p.Ala79del,ENST00000373776,NM_194252.2;TTLL11,upstream_gene_variant,,ENST00000487468,;TTLL11,inframe_deletion,p.Ala35del,ENST00000474723,;TTLL11,upstream_gene_variant,,ENST00000373778,;,regulatory_region_variant,,ENSR00000241010,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0162.2,; - ENSG00000175764 ENST00000321582 Transcript inframe_deletion 424-426/3250 236-238/2403 79-80/800 AV/V gCGGtg/gtg rs754929160 1 -1 TTLL11 HGNC HGNC:18113 protein_coding YES CCDS48012.1 ENSP00000321346 Q8NHH1 UPI0000E0BF7B NM_001139442.1 1/9 Low_complexity_(Seg):seg 0.01078 0.02476 MODERATE 1 deletion 5 PASS CACCGC . . 0.01086 0.008216 0.01361 0.006852 0.01955 0.01047 0.01011 0.01606 0.008979 122093180 ARMC3 . GRCh38 chr10 23032862 23032862 + Missense_Mutation SNP T T C rs1423865407 7316-1769 BS_H4KBJDGN T T c.2248T>C p.Tyr750His p.Y750H ENST00000298032 18/19 99 92 6 38 37 0 ARMC3,missense_variant,p.Tyr487His,ENST00000376528,NM_001282747.1;ARMC3,missense_variant,p.Tyr750His,ENST00000298032,NM_173081.4;ARMC3,missense_variant,p.Tyr743His,ENST00000409983,NM_001282745.1;ARMC3,downstream_gene_variant,,ENST00000473919,; C ENSG00000165309 ENST00000298032 Transcript missense_variant,splice_region_variant 2332/2811 2248/2619 750/872 Y/H Tat/Cat rs1423865407 1 1 ARMC3 HGNC HGNC:30964 protein_coding YES CCDS7142.1 ENSP00000298032 Q5W041 UPI0000161785 NM_173081.4 deleterious(0) possibly_damaging(0.748) 18/19 Pfam_domain:PF14381,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF78 MODERATE 1 SNV 1 PASS GTA . . 23032862 MUC5AC . GRCh38 chr11 1185624 1185624 + Missense_Mutation SNP A A C rs1276510167 7316-1769 BS_H4KBJDGN A A c.7479A>C p.Arg2493Ser p.R2493S ENST00000621226 31/49 77 61 13 22 22 0 MUC5AC,missense_variant,p.Arg2493Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 7526/17448 7479/16965 2493/5654 R/S agA/agC rs1276510167 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.77) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GAC . . 1185624 MUC5AC . GRCh38 chr11 1188136 1188136 + Missense_Mutation SNP A A G rs1488659870 7316-1769 BS_H4KBJDGN A A c.9991A>G p.Thr3331Ala p.T3331A ENST00000621226 31/49 85 71 13 28 28 0 MUC5AC,missense_variant,p.Thr3331Ala,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; G ENSG00000215182 ENST00000621226 Transcript missense_variant 10038/17448 9991/16965 3331/5654 T/A Aca/Gca rs1488659870 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.46) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAC . . 1188136 MUC5B . GRCh38 chr11 1243163 1243163 + Missense_Mutation SNP A A G rs753807150 7316-1769 BS_H4KBJDGN A A c.6283A>G p.Ile2095Val p.I2095V ENST00000529681 31/49 39 31 6 23 22 0 MUC5B,missense_variant,p.Ile2095Val,ENST00000529681,NM_002458.2;AC061979.1,intron_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,; G ENSG00000117983 ENST00000529681 Transcript missense_variant 6341/17911 6283/17289 2095/5762 I/V Atc/Gtc rs753807150 1 1 MUC5B HGNC HGNC:7516 protein_coding YES CCDS44515.2 ENSP00000436812 Q9HC84 UPI0001DD21C7 NM_002458.2 tolerated(1) benign(0.001) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite MODERATE 1 SNV 5 1 PASS CAT . . 0.0003089 8.076e-05 0.0002981 0.0002217 0.0001568 0.0004862 0.0002055 1243163 OR5D18 . GRCh38 chr11 55820017 55820017 + Missense_Mutation SNP C C A novel 7316-1769 BS_H4KBJDGN C C c.388C>A p.Pro130Thr p.P130T ENST00000333976 1/1 74 67 5 36 35 0 OR5D18,missense_variant,p.Pro130Thr,ENST00000333976,NM_001001952.1; A ENSG00000186119 ENST00000333976 Transcript missense_variant 411/991 388/942 130/313 P/T Cct/Act 1 1 OR5D18 HGNC HGNC:15285 protein_coding YES CCDS31510.1 ENSP00000335025 Q8NGL1 UPI0000046197 NM_001001952.1 deleterious(0) probably_damaging(0.957) 1/1 PROSITE_profiles:PS50262,cd15410,hmmpanther:PTHR26452:SF86,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245 MODERATE 1 SNV PASS CCC . . 55820017 SPTBN2 . GRCh38 chr11 66705821 66705821 + Missense_Mutation SNP T T G novel 7316-1769 BS_H4KBJDGN T T c.1670A>C p.Gln557Pro p.Q557P ENST00000533211 14/38 78 51 25 36 36 0 SPTBN2,missense_variant,p.Gln557Pro,ENST00000533211,;SPTBN2,missense_variant,p.Gln557Pro,ENST00000529997,;SPTBN2,missense_variant,p.Gln557Pro,ENST00000309996,NM_006946.2;SPTBN2,missense_variant,p.Gln557Pro,ENST00000617502,;SPTBN2,missense_variant,p.Gln557Pro,ENST00000611817,;SPTBN2,non_coding_transcript_exon_variant,,ENST00000647510,; G ENSG00000173898 ENST00000533211 Transcript missense_variant 2002/8128 1670/7173 557/2390 Q/P cAg/cCg 1 -1 SPTBN2 HGNC HGNC:11276 protein_coding YES CCDS8150.1 ENSP00000432568 O15020 UPI000013EF83 tolerated(0.53) benign(0.02) 14/38 cd00176,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966,hmmpanther:PTHR11915:SF325,hmmpanther:PTHR11915 MODERATE 1 SNV 5 1 PASS CTG . . 66705821 BIRC3 . GRCh38 chr11 102336907 102336907 + Splice_Site SNP A A G novel 7316-1769 BS_H4KBJDGN A A c.1622-2A>G p.X541_splice ENST00000263464 85 42 42 37 37 0 BIRC3,splice_acceptor_variant,,ENST00000263464,;BIRC3,splice_acceptor_variant,,ENST00000532808,;BIRC3,splice_acceptor_variant,,ENST00000615299,NM_001165.4,NM_182962.2;BIRC3,splice_acceptor_variant,,ENST00000527336,; G ENSG00000023445 ENST00000263464 Transcript splice_acceptor_variant 1 1 BIRC3 HGNC HGNC:591 protein_coding YES CCDS8315.1 ENSP00000263464 Q13489 UPI0000001C60 8/8 HIGH 1 SNV 1 1 PASS TAG . . 102336907 UBE4A . GRCh38 chr11 118371632 118371632 + Missense_Mutation SNP A A G novel 7316-1769 BS_H4KBJDGN A A c.527A>G p.Tyr176Cys p.Y176C ENST00000431736 5/20 89 79 9 29 28 0 UBE4A,missense_variant,p.Tyr176Cys,ENST00000252108,NM_001204077.1;UBE4A,missense_variant,p.Tyr176Cys,ENST00000431736,NM_004788.3; G ENSG00000110344 ENST00000431736 Transcript missense_variant 599/6061 527/3222 176/1073 Y/C tAc/tGc 1 1 UBE4A HGNC HGNC:12499 protein_coding YES CCDS8396.1 ENSP00000387362 Q14139 UPI000013CD3F NM_004788.3 deleterious(0) probably_damaging(0.958) 5/20 hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF2,Gene3D:1.25.10.10 MODERATE 1 SNV 1 PASS TAC . . 118371632 FAM186A . GRCh38 chr12 50353351 50353351 + Missense_Mutation SNP T T G rs1178357852 7316-1769 BS_H4KBJDGN T T c.3481A>C p.Thr1161Pro p.T1161P ENST00000327337 4/8 85 65 16 34 30 2 FAM186A,missense_variant,p.Thr1161Pro,ENST00000543111,;FAM186A,missense_variant,p.Thr1161Pro,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 3481/7127 3481/7056 1161/2351 T/P Act/Cct rs1178357852,COSM3812234 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GTG . . 0.0008908 0.001277 0.001663 0.0002933 0.004723 0.0005651 0.001167 0.000851 50353351 PTPN11 . GRCh38 chr12 112450394 112450394 + Missense_Mutation SNP G G A rs121918453 7316-1769 BS_H4KBJDGN G G c.214G>A p.Ala72Thr p.A72T ENST00000635625 3/15 87 49 37 44 44 0 PTPN11,missense_variant,p.Ala72Thr,ENST00000351677,NM_002834.3,NM_001330437.1;PTPN11,missense_variant,p.Ala72Thr,ENST00000392597,NM_080601.1;PTPN11,missense_variant,p.Ala72Thr,ENST00000635625,;PTPN11,missense_variant,p.Ala72Thr,ENST00000639857,;PTPN11,upstream_gene_variant,,ENST00000530818,; A ENSG00000179295 ENST00000635625 Transcript missense_variant 214/1794 214/1794 72/597 A/T Gcc/Acc rs121918453,CM090463,CM013418,COSM1948744,COSM13014 1 1 PTPN11 HGNC HGNC:9644 protein_coding YES CCDS81741.1 ENSP00000489597 Q06124 UPI000041C017 deleterious(0) probably_damaging(0.983) 3/15 Gene3D:3.30.505.10,Pfam_domain:PF00017,PIRSF_domain:PIRSF000929,PROSITE_profiles:PS50001,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF299,SMART_domains:SM00252,Superfamily_domains:SSF55550,cd10340 likely_pathogenic,pathogenic 0,0,0,1,1 24033266,11704759,12161469,15001945,16358218,19047918,12634870,12717436,14644997,14961557,14974085,15928039,16263833,16399795,16631468,17177198,17339163,18562489,18759865,19737548 MODERATE 1 SNV 5 1,1,1,1,1 1 PASS TGC . . 112450394 ZC3H13 . GRCh38 chr13 45975579 45975579 + Missense_Mutation SNP A A C novel 7316-1769 BS_H4KBJDGN A A c.2172T>G p.Asp724Glu p.D724E ENST00000242848 12/19 82 70 9 26 26 0 ZC3H13,missense_variant,p.Asp724Glu,ENST00000242848,NM_001330564.1,NM_001076788.1,NM_001330567.1,NM_001330565.1,NM_001330566.1;ZC3H13,missense_variant,p.Asp724Glu,ENST00000282007,NM_015070.4; C ENSG00000123200 ENST00000242848 Transcript missense_variant 2521/8018 2172/5007 724/1668 D/E gaT/gaG 1 -1 ZC3H13 HGNC HGNC:20368 protein_coding YES CCDS81766.1 ENSP00000242848 Q5T200 UPI000046F8EB NM_001330564.1,NM_001076788.1,NM_001330567.1,NM_001330565.1,NM_001330566.1 tolerated_low_confidence(0.29) benign(0) 12/19 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13585:SF5,hmmpanther:PTHR13585 MODERATE 1 SNV 5 PASS GAT . . 45975579 POTEG . GRCh38 chr14 19434082 19434082 + Missense_Mutation SNP G G C 7316-1769 BS_H4KBJDGN G G c.208C>G p.Pro70Ala p.P70A ENST00000547848 1/11 131 96 31 59 58 0 POTEG,missense_variant,p.Pro70Ala,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Pro70Ala,ENST00000547722,;POTEG,missense_variant,p.Pro70Ala,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; C ENSG00000187537 ENST00000547848 Transcript missense_variant 260/2204 208/1527 70/508 P/A Ccc/Gcc COSM5847722,COSM5847721 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 deleterious_low_confidence(0.01) probably_damaging(0.996) 1/11 hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 1,1 MODERATE 1 SNV 1 1,1 PASS GGG . . 19434082 MIS18BP1 . GRCh38 chr14 45227709 45227709 + Missense_Mutation SNP A A G novel 7316-1769 BS_H4KBJDGN A A c.1700T>C p.Val567Ala p.V567A ENST00000310806 9/17 70 45 25 47 47 0 MIS18BP1,missense_variant,p.Val567Ala,ENST00000310806,NM_018353.4;MIS18BP1,downstream_gene_variant,,ENST00000627697,;MIS18BP1,3_prime_UTR_variant,,ENST00000454990,;MIS18BP1,non_coding_transcript_exon_variant,,ENST00000555653,;MIS18BP1,downstream_gene_variant,,ENST00000453142,;MIS18BP1,upstream_gene_variant,,ENST00000469020,;MIS18BP1,upstream_gene_variant,,ENST00000554093,; G ENSG00000129534 ENST00000310806 Transcript missense_variant 2159/4777 1700/3399 567/1132 V/A gTa/gCa 1 -1 MIS18BP1 HGNC HGNC:20190 protein_coding YES CCDS9684.1 ENSP00000309790 Q6P0N0 UPI00001FD488 NM_018353.4 deleterious(0.02) benign(0.001) 9/17 hmmpanther:PTHR16124,hmmpanther:PTHR16124:SF3 MODERATE 1 SNV 1 PASS TAC . . 45227709 C14orf39 . GRCh38 chr14 60471672 60471672 + Missense_Mutation SNP C C G 7316-1769 BS_H4KBJDGN C C c.391G>C p.Glu131Gln p.E131Q ENST00000321731 6/18 104 54 44 44 44 0 C14orf39,missense_variant,p.Glu131Gln,ENST00000321731,NM_174978.2;C14orf39,missense_variant,p.Glu102Gln,ENST00000555476,;C14orf39,intron_variant,,ENST00000557138,; G ENSG00000179008 ENST00000321731 Transcript missense_variant 551/2813 391/1764 131/587 E/Q Gaa/Caa COSM243299 1 -1 C14orf39 HGNC HGNC:19849 protein_coding YES CCDS9746.1 ENSP00000324920 Q8N1H7 UPI0000140C15 NM_174978.2 deleterious(0.01) probably_damaging(0.922) 6/18 Pfam_domain:PF15676,hmmpanther:PTHR35449 1 MODERATE 1 SNV 1 1 PASS TCT . . 60471672 SEMA7A . GRCh38 chr15 74410840 74410840 + Missense_Mutation SNP G G T novel 7316-1769 BS_H4KBJDGN G G c.1785C>A p.Asn595Lys p.N595K ENST00000261918 14/14 75 41 33 46 46 0 SEMA7A,missense_variant,p.Asn595Lys,ENST00000261918,NM_003612.4;SEMA7A,missense_variant,p.Asn430Lys,ENST00000542748,NM_001146030.2;SEMA7A,missense_variant,p.Asn581Lys,ENST00000543145,NM_001146029.2;MIR6881,downstream_gene_variant,,ENST00000616450,;SEMA7A,downstream_gene_variant,,ENST00000569617,; T ENSG00000138623 ENST00000261918 Transcript missense_variant 1825/3376 1785/2001 595/666 N/K aaC/aaA 1 -1 SEMA7A HGNC HGNC:10741 protein_coding YES CCDS10262.1 ENSP00000261918 O75326 UPI00000312F0 NM_003612.4 tolerated(0.13) benign(0.062) 14/14 Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF80,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 1 PASS AGT . . 74410840 ACSBG1 . GRCh38 chr15 78182023 78182023 + Missense_Mutation SNP C C G novel 7316-1769 BS_H4KBJDGN C C c.1017G>C p.Trp339Cys p.W339C ENST00000258873 8/14 75 46 28 40 40 0 ACSBG1,missense_variant,p.Trp339Cys,ENST00000258873,NM_015162.4,NM_001199377.1;ACSBG1,missense_variant,p.Trp97Cys,ENST00000560817,;ACSBG1,downstream_gene_variant,,ENST00000559114,;ACSBG1,downstream_gene_variant,,ENST00000559241,;ACSBG1,3_prime_UTR_variant,,ENST00000560124,;ACSBG1,3_prime_UTR_variant,,ENST00000559707,;ACSBG1,non_coding_transcript_exon_variant,,ENST00000558728,;ACSBG1,downstream_gene_variant,,ENST00000557935,;ACSBG1,upstream_gene_variant,,ENST00000558301,; G ENSG00000103740 ENST00000258873 Transcript missense_variant 1223/6357 1017/2175 339/724 W/C tgG/tgC 1 -1 ACSBG1 HGNC HGNC:29567 protein_coding YES CCDS10298.1 ENSP00000258873 Q96GR2 UPI000006E955 NM_015162.4,NM_001199377.1 deleterious(0) benign(0.319) 8/14 Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF296,Superfamily_domains:SSF56801,cd05933 MODERATE 1 SNV 1 PASS TCC . . 78182023 MEX3B . GRCh38 chr15 82044065 82044065 + Missense_Mutation SNP T T G rs780065951 7316-1769 BS_H4KBJDGN T T c.805A>C p.Thr269Pro p.T269P ENST00000329713 2/2 86 58 23 65 59 3 MEX3B,missense_variant,p.Thr269Pro,ENST00000329713,NM_032246.4;MEX3B,3_prime_UTR_variant,,ENST00000558133,; G ENSG00000183496 ENST00000329713 Transcript missense_variant 1241/3528 805/1710 269/569 T/P Acc/Ccc rs780065951,COSM6241326 1 -1 MEX3B HGNC HGNC:25297 protein_coding YES CCDS10319.1 ENSP00000329918 Q6ZN04 UPI00001982CC NM_032246.4 tolerated(0.45) benign(0) 2/2 hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF5,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.002608 0.001784 0.002072 0.0018 0.001387 0.002118 0.003277 0.001953 0.002711 82044065 SEMA4B . GRCh38 chr15 90227635 90227636 + Frame_Shift_Del DEL AC AC - novel 7316-1769 BS_H4KBJDGN AC AC c.1767_1768del p.Pro590AsnfsTer7 p.P590Nfs*7 ENST00000411539 13/14 68 34 29 45 45 0 SEMA4B,frameshift_variant,p.Pro590AsnfsTer7,ENST00000411539,NM_001324032.1,NM_001324034.1,NM_001324033.1,NM_198925.2,NM_001324031.1;SEMA4B,frameshift_variant,p.Pro590AsnfsTer7,ENST00000332496,NM_001324030.1,NM_001324029.1,NM_020210.3;SEMA4B,frameshift_variant,p.Pro309AsnfsTer7,ENST00000559074,;SEMA4B,frameshift_variant,p.Thr114GlnfsTer17,ENST00000559247,;SEMA4B,frameshift_variant,p.Pro168AsnfsTer7,ENST00000559983,;CIB1,downstream_gene_variant,,ENST00000328649,NM_006384.3;CIB1,downstream_gene_variant,,ENST00000612800,NM_001277764.1;SEMA4B,3_prime_UTR_variant,,ENST00000560089,;SEMA4B,non_coding_transcript_exon_variant,,ENST00000558065,;SEMA4B,non_coding_transcript_exon_variant,,ENST00000561321,;SEMA4B,downstream_gene_variant,,ENST00000558975,;SEMA4B,downstream_gene_variant,,ENST00000560993,;SEMA4B,downstream_gene_variant,,ENST00000561252,; - ENSG00000185033 ENST00000411539 Transcript frameshift_variant 2027-2028/3807 1767-1768/2514 589-590/837 VP/VX gtACca/gtca 1 1 SEMA4B HGNC HGNC:10730 protein_coding YES CCDS45347.1 ENSP00000394720 J3KNP4 UPI0000197391 NM_001324032.1,NM_001324034.1,NM_001324033.1,NM_198925.2,NM_001324031.1 13/14 Low_complexity_(Seg):seg,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF14 HIGH 1 deletion 1 PASS GTACC . . 90227634 ZSCAN32 . GRCh38 chr16 3397374 3397374 + Missense_Mutation SNP A A G rs1472181011 7316-1769 BS_H4KBJDGN A A c.184T>C p.Cys62Arg p.C62R ENST00000396846 2/7 75 35 40 25 24 0 ZSCAN32,missense_variant,p.Cys62Arg,ENST00000396846,NM_001324346.1,NM_001284527.1,NM_001324343.1;ZSCAN32,missense_variant,p.Cys62Arg,ENST00000396852,;ZSCAN32,missense_variant,p.Cys62Arg,ENST00000574940,;ZSCAN32,missense_variant,p.Cys62Arg,ENST00000573327,;ZSCAN32,missense_variant,p.Cys62Arg,ENST00000571906,;ZSCAN32,missense_variant,p.Cys62Arg,ENST00000573719,;ZSCAN32,5_prime_UTR_variant,,ENST00000304926,NM_017810.3,NM_001324345.1,NM_001324344.1,NM_001324340.1,NM_001324341.1,NM_001324342.1;AC025283.2,3_prime_UTR_variant,,ENST00000618352,;ZSCAN32,5_prime_UTR_variant,,ENST00000618425,NM_001284528.1;ZSCAN32,intron_variant,,ENST00000422427,;ZSCAN32,intron_variant,,ENST00000439568,NM_001284529.1;ZSCAN32,intron_variant,,ENST00000573830,;ZNF174,upstream_gene_variant,,ENST00000268655,NM_003450.2;ZNF174,upstream_gene_variant,,ENST00000344823,NM_001032292.2;ZNF174,upstream_gene_variant,,ENST00000571936,;ZNF174,upstream_gene_variant,,ENST00000572544,;ZSCAN32,upstream_gene_variant,,ENST00000575350,;ZNF174,upstream_gene_variant,,ENST00000575752,;ZSCAN32,missense_variant,p.Cys62Arg,ENST00000576500,;ZSCAN32,non_coding_transcript_exon_variant,,ENST00000574084,;AC025283.3,intron_variant,,ENST00000575785,; G ENSG00000140987 ENST00000396846 Transcript missense_variant 492/3173 184/2094 62/697 C/R Tgt/Cgt rs1472181011 1 -1 ZSCAN32 HGNC HGNC:20812 protein_coding YES CCDS66921.1 ENSP00000380057 Q9NX65 UPI000035DB5C NM_001324346.1,NM_001284527.1,NM_001324343.1 deleterious(0) probably_damaging(0.975) 2/7 PROSITE_profiles:PS50804,cd07936,hmmpanther:PTHR44428,Pfam_domain:PF02023,Gene3D:1.10.4020.10,SMART_domains:SM00431,Superfamily_domains:SSF47353 MODERATE 1 SNV 1 PASS CAG . . 6.573e-06 1.715e-05 3397374 DNAAF1 . GRCh38 chr16 84150322 84150322 + Missense_Mutation SNP C C T rs375812500 7316-1769 BS_H4KBJDGN C C c.332C>T p.Thr111Met p.T111M ENST00000378553 3/12 80 67 13 33 33 0 DNAAF1,missense_variant,p.Thr111Met,ENST00000378553,NM_178452.5;DNAAF1,missense_variant,p.Thr111Met,ENST00000563093,;DNAAF1,missense_variant,p.Thr111Met,ENST00000567918,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,; T ENSG00000154099 ENST00000378553 Transcript missense_variant 456/2379 332/2178 111/725 T/M aCg/aTg rs375812500,COSM1661483 1 1 DNAAF1 HGNC HGNC:30539 protein_coding YES CCDS10943.2 ENSP00000367815 Q8NEP3 A0A140VJN4 UPI000059D3C9 NM_178452.5 deleterious(0.01) probably_damaging(0.949) 3/12 Gene3D:3.80.10.10,hmmpanther:PTHR45256 0.0001163 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACG . . 2.031e-05 2.978e-05 5.798e-05 1.792e-05 3.249e-05 84150322 MYO1C . GRCh38 chr17 1482859 1482859 + Splice_Site SNP A A C rs115519639 7316-1769 BS_H4KBJDGN A A c.546+2T>G p.X182_splice ENST00000359786 81 49 11 32 24 0 MYO1C,splice_donor_variant,,ENST00000359786,NM_001080779.1;MYO1C,splice_donor_variant,,ENST00000361007,NM_033375.4;MYO1C,splice_donor_variant,,ENST00000438665,NM_001080950.1;MYO1C,splice_donor_variant,,ENST00000545534,;MYO1C,splice_donor_variant,,ENST00000570490,;MYO1C,splice_donor_variant,,ENST00000570984,;MYO1C,splice_donor_variant,,ENST00000573853,;MYO1C,splice_donor_variant,,ENST00000575158,;MYO1C,splice_donor_variant,,ENST00000646049,;MYO1C,downstream_gene_variant,,ENST00000575335,;MYO1C,upstream_gene_variant,,ENST00000571851,;MYO1C,upstream_gene_variant,,ENST00000573198,;MYO1C,upstream_gene_variant,,ENST00000573961,;MYO1C,upstream_gene_variant,,ENST00000576822,;,regulatory_region_variant,,ENSR00000090087,; C ENSG00000197879 ENST00000359786 Transcript splice_donor_variant rs115519639,COSM5414461,COSM5414460 1 -1 MYO1C HGNC HGNC:7597 protein_coding YES CCDS42226.1 ENSP00000352834 O00159 UPI0000200579 NM_001080779.1 4/31 0,1,1 HIGH 1 SNV 1 0,1,1 1 PASS CAC . . 0.01523 0.02305 0.01781 0.02253 0.004015 0.006786 0.01636 0.02603 0.01712 1482859 EIF4A1 . GRCh38 chr17 7577876 7577876 + Missense_Mutation SNP G G A 7316-1769 BS_H4KBJDGN G G c.956G>A p.Arg319His p.R319H ENST00000293831 9/11 92 48 44 40 40 0 EIF4A1,missense_variant,p.Arg319His,ENST00000293831,NM_001416.3;EIF4A1,missense_variant,p.Arg319His,ENST00000582746,;EIF4A1,missense_variant,p.Arg319His,ENST00000577269,NM_001204510.1;EIF4A1,missense_variant,p.Arg202His,ENST00000583389,;CD68,upstream_gene_variant,,ENST00000250092,NM_001251.2;CD68,upstream_gene_variant,,ENST00000380498,NM_001040059.1;EIF4A1,downstream_gene_variant,,ENST00000577929,;EIF4A1,downstream_gene_variant,,ENST00000578495,;EIF4A1,downstream_gene_variant,,ENST00000578754,;EIF4A1,downstream_gene_variant,,ENST00000581384,;EIF4A1,downstream_gene_variant,,ENST00000581770,;EIF4A1,downstream_gene_variant,,ENST00000582169,;EIF4A1,downstream_gene_variant,,ENST00000583802,;CD68,upstream_gene_variant,,ENST00000584180,;CD68,upstream_gene_variant,,ENST00000584502,;EIF4A1,downstream_gene_variant,,ENST00000584784,;EIF4A1,downstream_gene_variant,,ENST00000584860,;EIF4A1,downstream_gene_variant,,ENST00000585024,;SNORA67,upstream_gene_variant,,ENST00000384423,;SNORA48,downstream_gene_variant,,ENST00000386847,;SNORD10,downstream_gene_variant,,ENST00000459579,;AC016876.1,downstream_gene_variant,,ENST00000415124,;AC016876.1,downstream_gene_variant,,ENST00000417897,;AC016876.1,downstream_gene_variant,,ENST00000572046,;AC016876.1,downstream_gene_variant,,ENST00000573187,;AC016876.2,non_coding_transcript_exon_variant,,ENST00000581621,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000581808,;EIF4A1,missense_variant,p.Arg41His,ENST00000582050,;SENP3-EIF4A1,3_prime_UTR_variant,,ENST00000614237,;EIF4A1,3_prime_UTR_variant,,ENST00000581544,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000578324,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000396527,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000581841,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000583217,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000578569,;EIF4A1,downstream_gene_variant,,ENST00000577731,;EIF4A1,downstream_gene_variant,,ENST00000577738,;EIF4A1,downstream_gene_variant,,ENST00000578476,;EIF4A1,downstream_gene_variant,,ENST00000579085,;EIF4A1,downstream_gene_variant,,ENST00000579139,;EIF4A1,downstream_gene_variant,,ENST00000580461,;EIF4A1,downstream_gene_variant,,ENST00000580886,;EIF4A1,downstream_gene_variant,,ENST00000580888,;EIF4A1,downstream_gene_variant,,ENST00000582213,;EIF4A1,downstream_gene_variant,,ENST00000582848,;EIF4A1,downstream_gene_variant,,ENST00000583899,;EIF4A1,downstream_gene_variant,,ENST00000584054,;EIF4A1,downstream_gene_variant,,ENST00000584712,;EIF4A1,downstream_gene_variant,,ENST00000584798,;EIF4A1,downstream_gene_variant,,ENST00000584901,; A ENSG00000161960 ENST00000293831 Transcript missense_variant 972/1756 956/1221 319/406 R/H cGt/cAt COSM6023362,COSM2743846 1 1 EIF4A1 HGNC HGNC:3282 protein_coding YES CCDS11113.1 ENSP00000293831 P60842 UPI000000411B NM_001416.3 deleterious(0) benign(0.421) 9/11 Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF226,SMART_domains:SM00490,Superfamily_domains:SSF52540,cd00079 1,1 MODERATE 1 SNV 1 1,1 PASS CGT . . 7577876 LLGL1 . GRCh38 chr17 18241551 18241551 + Missense_Mutation SNP T T A novel 7316-1769 BS_H4KBJDGN T T c.2603T>A p.Val868Glu p.V868E ENST00000316843 18/23 82 36 43 46 46 0 LLGL1,missense_variant,p.Val868Glu,ENST00000316843,NM_004140.3;LLGL1,missense_variant,p.Val863Glu,ENST00000621229,;FLII,downstream_gene_variant,,ENST00000327031,NM_002018.3;FLII,downstream_gene_variant,,ENST00000545457,NM_001256265.1;FLII,downstream_gene_variant,,ENST00000577398,;FLII,downstream_gene_variant,,ENST00000577485,;FLII,downstream_gene_variant,,ENST00000578558,;FLII,downstream_gene_variant,,ENST00000579294,NM_001256264.1;LLGL1,non_coding_transcript_exon_variant,,ENST00000479155,;FLII,downstream_gene_variant,,ENST00000459958,;FLII,downstream_gene_variant,,ENST00000465046,;FLII,downstream_gene_variant,,ENST00000474265,;FLII,downstream_gene_variant,,ENST00000487369,;FLII,downstream_gene_variant,,ENST00000487693,;FLII,downstream_gene_variant,,ENST00000493401,;FLII,downstream_gene_variant,,ENST00000493600,;FLII,downstream_gene_variant,,ENST00000578101,;FLII,downstream_gene_variant,,ENST00000580453,;FLII,downstream_gene_variant,,ENST00000580966,;FLII,downstream_gene_variant,,ENST00000581858,;,regulatory_region_variant,,ENSR00000092064,; A ENSG00000131899 ENST00000316843 Transcript missense_variant 2699/4260 2603/3195 868/1064 V/E gTg/gAg 1 1 LLGL1 HGNC HGNC:6628 protein_coding YES CCDS32586.1 ENSP00000321537 Q15334 UPI000049DE38 NM_004140.3 tolerated(1) benign(0.152) 18/23 Gene3D:2.130.10.10,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF21 MODERATE 1 SNV 1 PASS GTG . . 18241551 KCNJ12 . GRCh38 chr17 21415683 21415683 + Missense_Mutation SNP C C T rs148229779 7316-1769 BS_H4KBJDGN C C c.341C>T p.Pro114Leu p.P114L ENST00000583088 3/3 116 98 15 57 56 0 KCNJ12,missense_variant,p.Pro114Leu,ENST00000583088,NM_021012.4;KCNJ12,missense_variant,p.Pro114Leu,ENST00000331718,; T ENSG00000184185 ENST00000583088 Transcript missense_variant 1236/5425 341/1302 114/433 P/L cCg/cTg rs148229779 1 1 KCNJ12 HGNC HGNC:6258 protein_coding YES CCDS11219.1 ENSP00000463778 Q14500 UPI00000725C7 NM_021012.4 tolerated(0.32) benign(0.005) 3/3 hmmpanther:PTHR11767:SF14,hmmpanther:PTHR11767,Gene3D:1.10.287.70,Pfam_domain:PF01007,Superfamily_domains:SSF81324,Prints_domain:PR01325 0.000227 MODERATE 1 SNV 1 PASS CCG . . 5.688e-05 6.545e-05 5.957e-05 5.798e-05 2.687e-05 0.0002275 21415683 NF1 . GRCh38 chr17 31338734 31338737 + Frame_Shift_Del DEL ACTT ACTT - rs864622307 7316-1769 BS_H4KBJDGN ACTT ACTT c.6852_6855del p.Tyr2285ThrfsTer5 p.Y2285Tfs*5 ENST00000358273 46/58 111 58 48 30 30 0 NF1,frameshift_variant,p.Tyr2285ThrfsTer5,ENST00000358273,NM_001042492.2;NF1,frameshift_variant,p.Tyr2264ThrfsTer5,ENST00000356175,NM_000267.3;NF1,frameshift_variant,p.Tyr1930ThrfsTer5,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000581113,;NF1,frameshift_variant,p.Tyr80ThrfsTer5,ENST00000471572,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000584328,;NF1,intron_variant,,ENST00000581790,;NF1,downstream_gene_variant,,ENST00000479536,;NF1,upstream_gene_variant,,ENST00000582892,; - ENSG00000196712 ENST00000358273 Transcript frameshift_variant 7233-7236/12425 6850-6853/8520 2284-2285/2839 TY/X ACTTac/ac rs864622307,COSM510739,COSM4336088,COSM3179958 1 1 NF1 HGNC HGNC:7765 protein_coding YES CCDS42292.1 ENSP00000351015 P21359 UPI000012FFAE NM_001042492.2 46/58 hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF60,Gene3D:1.25.10.10,Superfamily_domains:SSF48371 pathogenic 0,1,1,1 HIGH 1 deletion 1 2 0,1,1,1 1 PASS ACACTTA . . 31338733 TMUB2 . GRCh38 chr17 44190695 44190695 + Missense_Mutation SNP T T C novel 7316-1769 BS_H4KBJDGN T T c.797T>C p.Leu266Pro p.L266P ENST00000587989 4/4 78 69 9 33 32 0 TMUB2,missense_variant,p.Leu246Pro,ENST00000319511,NM_177441.2;TMUB2,missense_variant,p.Leu266Pro,ENST00000587989,;TMUB2,missense_variant,p.Leu266Pro,ENST00000538716,NM_001076674.1;TMUB2,missense_variant,p.Leu246Pro,ENST00000357984,NM_024107.2;TMUB2,missense_variant,p.Leu246Pro,ENST00000589785,;TMUB2,missense_variant,p.Leu209Pro,ENST00000446571,;TMUB2,missense_variant,p.Leu139Pro,ENST00000587630,;TMUB2,3_prime_UTR_variant,,ENST00000592825,;TMUB2,3_prime_UTR_variant,,ENST00000589184,;TMUB2,3_prime_UTR_variant,,ENST00000587172,;TMUB2,3_prime_UTR_variant,,ENST00000590235,;ATXN7L3,downstream_gene_variant,,ENST00000389384,NM_001098833.1;ATXN7L3,downstream_gene_variant,,ENST00000454077,NM_020218.1;ATXN7L3,downstream_gene_variant,,ENST00000587097,;TMUB2,downstream_gene_variant,,ENST00000589856,;ATXN7L3,downstream_gene_variant,,ENST00000590537,;ATXN7L3,downstream_gene_variant,,ENST00000591295,;ASB16-AS1,upstream_gene_variant,,ENST00000585457,;ASB16-AS1,upstream_gene_variant,,ENST00000588785,;ASB16-AS1,upstream_gene_variant,,ENST00000591166,;ASB16-AS1,upstream_gene_variant,,ENST00000592897,;ATXN7L3,downstream_gene_variant,,ENST00000593073,;TMUB2,3_prime_UTR_variant,,ENST00000587326,;TMUB2,3_prime_UTR_variant,,ENST00000588413,;ATXN7L3,downstream_gene_variant,,ENST00000586688,;ATXN7L3,downstream_gene_variant,,ENST00000587022,;TMUB2,downstream_gene_variant,,ENST00000587775,;ATXN7L3,downstream_gene_variant,,ENST00000589607,;ATXN7L3,downstream_gene_variant,,ENST00000591807,; C ENSG00000168591 ENST00000587989 Transcript missense_variant 950/1969 797/966 266/321 L/P cTt/cCt 1 1 TMUB2 HGNC HGNC:28459 protein_coding YES CCDS54134.1 ENSP00000466971 Q71RG4 UPI0000201381 deleterious(0.01) benign(0.045) 4/4 Transmembrane_helices:TMhelix,hmmpanther:PTHR14557,hmmpanther:PTHR14557:SF4 MODERATE SNV 3 PASS CTT . . 44190695 ABCA9 . GRCh38 chr17 69027361 69027361 + Missense_Mutation SNP G G C novel 7316-1769 BS_H4KBJDGN G G c.1880C>G p.Thr627Ser p.T627S ENST00000340001 14/39 77 49 27 32 32 0 ABCA9,missense_variant,p.Thr627Ser,ENST00000340001,NM_080283.3;ABCA9,missense_variant,p.Thr627Ser,ENST00000453985,;ABCA9-AS1,intron_variant,,ENST00000627453,;ABCA9-AS1,intron_variant,,ENST00000629311,;ABCA9-AS1,downstream_gene_variant,,ENST00000627957,; C ENSG00000154258 ENST00000340001 Transcript missense_variant 2092/6514 1880/4875 627/1624 T/S aCt/aGt 1 -1 ABCA9 HGNC HGNC:39 protein_coding YES CCDS11681.1 ENSP00000342216 Q8IUA7 UPI00000747B1 NM_080283.3 tolerated(0.47) benign(0.085) 14/39 Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF120,SMART_domains:SM00382,Superfamily_domains:SSF52540,cd03263 MODERATE 1 SNV 1 PASS AGT . . 69027361 SKOR2 . GRCh38 chr18 47247181 47247181 + Missense_Mutation SNP T T G rs996299085 7316-1769 BS_H4KBJDGN T T c.2003A>C p.His668Pro p.H668P ENST00000425639 2/9 56 36 16 32 29 2 SKOR2,missense_variant,p.His668Pro,ENST00000425639,;SKOR2,missense_variant,p.His668Pro,ENST00000620245,NM_001278063.1;SKOR2,intron_variant,,ENST00000400404,NM_001037802.1; G ENSG00000215474 ENST00000425639 Transcript missense_variant 2280/3899 2003/3048 668/1015 H/P cAc/cCc rs996299085 1 -1 SKOR2 HGNC HGNC:32695 protein_coding YES CCDS74222.1 ENSP00000414750 A0A087X0E6 UPI0002742DD5 tolerated_low_confidence(0.17) benign(0) 2/9 hmmpanther:PTHR10005,hmmpanther:PTHR10005:SF7,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 0.0002923 0.008547 0.0003726 47247181 MYO5B . GRCh38 chr18 49880430 49880430 + Missense_Mutation SNP T T C novel 7316-1769 BS_H4KBJDGN T T c.3071A>G p.Asn1024Ser p.N1024S ENST00000285039 23/40 52 32 20 28 28 0 MYO5B,missense_variant,p.Asn1024Ser,ENST00000285039,NM_001080467.2;MYO5B,missense_variant,p.Asn167Ser,ENST00000324581,;MYO5B,upstream_gene_variant,,ENST00000587895,;MYO5B,non_coding_transcript_exon_variant,,ENST00000585859,;MYO5B,upstream_gene_variant,,ENST00000589568,; C ENSG00000167306 ENST00000285039 Transcript missense_variant 3371/9505 3071/5547 1024/1848 N/S aAt/aGt 1 -1 MYO5B HGNC HGNC:7603 protein_coding YES CCDS42436.1 ENSP00000285039 Q9ULV0 UPI00001D7B21 NM_001080467.2 deleterious(0.01) benign(0.053) 23/40 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF356,hmmpanther:PTHR13140,Gene3D:1.10.287.510 MODERATE 1 SNV 1 1 PASS ATT . . 49880430 MADCAM1 . GRCh38 chr19 501701 501701 + Missense_Mutation SNP G G A rs72970252 7316-1769 BS_H4KBJDGN G G c.700G>A p.Asp234Asn p.D234N ENST00000215637 4/5 75 58 10 29 27 0 MADCAM1,missense_variant,p.Asp15Asn,ENST00000587541,;MADCAM1,missense_variant,p.Asp234Asn,ENST00000215637,NM_130760.2;MADCAM1,missense_variant,p.Asp258Asn,ENST00000613880,;MADCAM1,missense_variant,p.Asp252Asn,ENST00000617201,;MADCAM1,missense_variant,p.Asp250Asn,ENST00000619333,;MADCAM1,missense_variant,p.Asp242Asn,ENST00000622462,;MADCAM1,missense_variant,p.Asp252Asn,ENST00000621286,;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.1,intron_variant,,ENST00000592413,;MADCAM1,downstream_gene_variant,,ENST00000622449,;,regulatory_region_variant,,ENSR00000286952,; A ENSG00000099866 ENST00000215637 Transcript missense_variant 746/1572 700/1149 234/382 D/N Gac/Aac rs72970252,COSM1161286 1 1 MADCAM1 HGNC HGNC:6765 protein_coding YES CCDS12028.1 ENSP00000215637 Q13477 UPI000013C68F NM_130760.2 tolerated(0.51) benign(0) 4/5 hmmpanther:PTHR14162,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 501701 ABCA7 . GRCh38 chr19 1047029 1047029 + Splice_Region SNP G G A rs1435026307 7316-1769 BS_H4KBJDGN G G c.1845+5G>A ENST00000263094 87 49 32 54 53 0 ABCA7,splice_region_variant,,ENST00000263094,NM_019112.3;ABCA7,splice_region_variant,,ENST00000433129,;ABCA7,splice_region_variant,,ENST00000435683,;ABCA7,downstream_gene_variant,,ENST00000524850,;ABCA7,downstream_gene_variant,,ENST00000531467,;ABCA7,intron_variant,,ENST00000533574,;ABCA7,downstream_gene_variant,,ENST00000525238,;ABCA7,downstream_gene_variant,,ENST00000526885,;ABCA7,downstream_gene_variant,,ENST00000527496,;,regulatory_region_variant,,ENSR00000105606,; A ENSG00000064687 ENST00000263094 Transcript splice_region_variant,intron_variant rs1435026307 1 1 ABCA7 HGNC HGNC:37 protein_coding YES CCDS12055.1 ENSP00000263094 Q8IZY2 UPI000013D3A4 NM_019112.3 14/46 LOW 1 SNV 5 1 PASS GGC . . 1047029 MUC16 . GRCh38 chr19 8937867 8937867 + Missense_Mutation SNP T T C rs765996093 7316-1769 BS_H4KBJDGN T T c.33088A>G p.Thr11030Ala p.T11030A ENST00000397910 5/84 103 87 10 40 40 0 MUC16,missense_variant,p.Thr11030Ala,ENST00000397910,NM_024690.2; C ENSG00000181143 ENST00000397910 Transcript missense_variant 33292/43816 33088/43524 11030/14507 T/A Act/Gct rs765996093,COSM3718544,COSM3718543 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0) 5/84 mobidb-lite,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GTT . . 3.788e-05 6.18e-05 7.304e-05 8937867 C19orf38 . GRCh38 chr19 10863171 10863171 + Missense_Mutation SNP C C A novel 7316-1769 BS_H4KBJDGN C C c.507C>A p.Asp169Glu p.D169E ENST00000397820 6/7 71 37 33 35 35 0 C19orf38,missense_variant,p.Asp169Glu,ENST00000397820,NM_001136482.1;C19orf38,missense_variant,p.Asp169Glu,ENST00000592854,;C19orf38,downstream_gene_variant,,ENST00000587494,;,regulatory_region_variant,,ENSR00000107097,; A ENSG00000214212 ENST00000397820 Transcript missense_variant,splice_region_variant 614/1223 507/693 169/230 D/E gaC/gaA 1 1 C19orf38 HGNC HGNC:34073 protein_coding YES CCDS45970.1 ENSP00000380920 A8MVS5 UPI0000160991 NM_001136482.1 tolerated(0.22) probably_damaging(0.994) 6/7 hmmpanther:PTHR36859 MODERATE 1 SNV 1 PASS ACA . . 10863171 ZNF681 . GRCh38 chr19 23744075 23744075 + Missense_Mutation SNP A A T rs796467869 7316-1769 BS_H4KBJDGN A A c.1475T>A p.Ile492Asn p.I492N ENST00000402377 4/4 104 88 12 31 31 0 ZNF681,missense_variant,p.Ile492Asn,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; T ENSG00000196172 ENST00000402377 Transcript missense_variant 1617/6497 1475/1938 492/645 I/N aTc/aAc rs796467869 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 tolerated(0.51) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GAT . . 23744075 DACT3 . GRCh38 chr19 46649647 46649647 + Missense_Mutation SNP G G A novel 7316-1769 BS_H4KBJDGN G G c.725C>T p.Ala242Val p.A242V ENST00000391916 4/4 34 21 13 22 21 0 DACT3,missense_variant,p.Ala242Val,ENST00000391916,NM_145056.2;DACT3,missense_variant,p.Ala17Val,ENST00000300875,NM_001301046.1;DACT3,downstream_gene_variant,,ENST00000410105,;,regulatory_region_variant,,ENSR00000110404,; A ENSG00000197380 ENST00000391916 Transcript missense_variant 799/2834 725/1890 242/629 A/V gCg/gTg 1 -1 DACT3 HGNC HGNC:30745 protein_coding YES CCDS12688.2 ENSP00000375783 Q96B18 UPI0000202707 NM_145056.2 tolerated(0.5) benign(0.009) 4/4 mobidb-lite,hmmpanther:PTHR15919:SF1,hmmpanther:PTHR15919 MODERATE 1 SNV 5 PASS CGC . . 46649647 PLCG1 . GRCh38 chr20 41174241 41174241 + Missense_Mutation SNP C C A 7316-1769 BS_H4KBJDGN C C c.3763C>A p.Gln1255Lys p.Q1255K ENST00000244007 32/33 76 48 26 28 28 0 PLCG1,missense_variant,p.Gln1254Lys,ENST00000373271,NM_182811.1;PLCG1,missense_variant,p.Gln1255Lys,ENST00000244007,NM_002660.2;PLCG1,intron_variant,,ENST00000612731,;ZHX3,downstream_gene_variant,,ENST00000309060,NM_015035.3;ZHX3,downstream_gene_variant,,ENST00000421422,;PLCG1,non_coding_transcript_exon_variant,,ENST00000608689,;PLCG1,non_coding_transcript_exon_variant,,ENST00000609821,;PLCG1,downstream_gene_variant,,ENST00000617873,;PLCG1,downstream_gene_variant,,ENST00000619272,;PLCG1,missense_variant,p.Gln72Lys,ENST00000607954,;PLCG1,missense_variant,p.Gln97Lys,ENST00000609257,;PLCG1,non_coding_transcript_exon_variant,,ENST00000461641,;PLCG1,intron_variant,,ENST00000599785,;PLCG1,intron_variant,,ENST00000608885,;PLCG1,downstream_gene_variant,,ENST00000477870,;PLCG1,downstream_gene_variant,,ENST00000483175,; A ENSG00000124181 ENST00000244007 Transcript missense_variant 3960/5285 3763/3876 1255/1291 Q/K Cag/Aag COSM4888175 1 1 PLCG1 HGNC HGNC:9065 protein_coding YES CCDS13313.1 ENSP00000244007 P19174 UPI00001B94DD NM_002660.2 deleterious(0.04) benign(0.08) 32/33 PIRSF_domain:PIRSF000952,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52 1 MODERATE 1 SNV 5 1 1 PASS CCA . . 41174241 PFDN4 . GRCh38 chr20 54215344 54215349 + In_Frame_Del DEL TGCAGA TGCAGA - novel 7316-1769 BS_H4KBJDGN TGCAGA TGCAGA c.179_184del p.Ala60_Asp61del p.A60_D61del ENST00000371419 3/4 91 58 31 42 40 0 PFDN4,inframe_deletion,p.Ala60_Asp61del,ENST00000371419,NM_002623.3;PFDN4,non_coding_transcript_exon_variant,,ENST00000487129,;PFDN4,non_coding_transcript_exon_variant,,ENST00000493356,;PFDN4,downstream_gene_variant,,ENST00000474326,;PFDN4,inframe_deletion,p.Ala60_Asp61del,ENST00000441080,; - ENSG00000101132 ENST00000371419 Transcript inframe_deletion 431-436/1462 177-182/405 59-61/134 LAD/L ctTGCAGAt/ctt 1 1 PFDN4 HGNC HGNC:8868 protein_coding YES CCDS13445.1 ENSP00000360473 Q9NQP4 UPI0000131728 NM_002623.3 3/4 Gene3D:1.10.287.370,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01920,PIRSF_domain:PIRSF016477,hmmpanther:PTHR21100,Superfamily_domains:SSF46579,Low_complexity_(Seg):seg MODERATE 1 deletion 1 2 PASS CTTGCAGAT . . 54215343 UMODL1 . GRCh38 chr21 42119328 42119328 + Splice_Region SNP C C T rs200196209 7316-1769 BS_H4KBJDGN C C c.3073+4C>T ENST00000408989 89 53 35 43 43 0 UMODL1,splice_region_variant,,ENST00000400424,NM_001199528.2;UMODL1,splice_region_variant,,ENST00000400427,NM_001199527.1;UMODL1,splice_region_variant,,ENST00000408910,NM_001004416.2;UMODL1,splice_region_variant,,ENST00000408989,NM_173568.3;UMODL1,upstream_gene_variant,,ENST00000400423,;UMODL1,downstream_gene_variant,,ENST00000475047,;UMODL1,upstream_gene_variant,,ENST00000484174,; T ENSG00000177398 ENST00000408989 Transcript splice_region_variant,intron_variant rs200196209 1 1 UMODL1 HGNC HGNC:12560 protein_coding YES CCDS42935.1 ENSP00000386126 Q5DID0 UPI0000D6254B NM_173568.3 14/21 0.0004 0.001 0.001 0.0001186 LOW 1 SNV 1 PASS ACG . . 0.0001352 6.542e-05 0.0001086 0.00065 42119328 TCF20 . GRCh38 chr22 42209984 42209986 + In_Frame_Del DEL CTG CTG - rs745763431 7316-1769 BS_H4KBJDGN CTG CTG c.5320_5322del p.Gln1774del p.Q1774del ENST00000359486 1/5 80 67 7 35 35 0 TCF20,inframe_deletion,p.Gln1774del,ENST00000359486,NM_005650.3;TCF20,inframe_deletion,p.Gln1774del,ENST00000335626,NM_181492.2;TCF20,inframe_deletion,p.Gln75del,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,; - ENSG00000100207 ENST00000359486 Transcript inframe_deletion 5457-5459/7410 5320-5322/5883 1774/1960 Q/- CAG/- rs745763431,TMP_ESP_22_42605990_42605995,COSM5859500,COSM1724665 1 -1 TCF20 HGNC HGNC:11631 protein_coding YES CCDS14033.1 ENSP00000352463 Q9UGU0 W5ZR30 UPI00001A95D9 NM_005650.3 1/5 hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7,cd15699,mobidb-lite,Low_complexity_(Seg):seg 0.001173 0.001454 0,0,1,1 MODERATE 1 deletion 1 0,0,1,1 1 PASS TTCTGC . . 3.28e-05 6.565e-05 0.0002405 1.799e-05 42209983 HMGN1P34 . GRCh38 chrX 78519790 78519791 + Splice_Region INS - T T rs200318843 7316-1769 BS_H4KBJDGN - - n.100-8dup ENST00000413023 39 2 28 14 13 1 HMGN1P34,splice_region_variant,,ENST00000413023,; T ENSG00000224755 ENST00000413023 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs200318843 1 -1 HMGN1P34 HGNC HGNC:39378 processed_pseudogene YES 1/1 0.2374 LOW 1 insertion PASS CCT . . 78519790 ARMCX4 . GRCh38 chrX 101491075 101491075 + Missense_Mutation SNP A A G rs994987812 7316-1769 BS_H4KBJDGN A A c.2486A>G p.Gln829Arg p.Q829R ENST00000423738 2/2 56 46 6 30 29 0 ARMCX4,missense_variant,p.Gln829Arg,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; G ENSG00000196440 ENST00000423738 Transcript missense_variant 2688/7424 2486/6873 829/2290 Q/R cAg/cGg rs994987812 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.06) benign(0.084) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS CAG . . 101491075 ESX1 . GRCh38 chrX 104250509 104250509 + Missense_Mutation SNP T T G rs9697856 7316-1769 BS_H4KBJDGN T T c.940A>C p.Thr314Pro p.T314P ENST00000372588 4/4 46 30 12 14 14 0 ESX1,missense_variant,p.Thr314Pro,ENST00000372588,NM_153448.3; G ENSG00000123576 ENST00000372588 Transcript missense_variant 1024/1495 940/1221 314/406 T/P Acc/Ccc rs9697856 1 -1 ESX1 HGNC HGNC:14865 protein_coding YES CCDS14516.1 ENSP00000361669 Q8N693 UPI0000073D09 NM_153448.3 tolerated_low_confidence(0.54) benign(0) 4/4 Low_complexity_(Seg):seg,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF145 0.0077 0.003 0.0019 0.0183 0.0052 0.0097 29291004 MODERATE 1 SNV 1 PASS GTT . . 0.001764 0.0008688 0.0006165 0.01449 0.0005215 0.0006168 0.001611 104250509 SLC35E2A . GRCh38 chr1 1734736 1734736 + Missense_Mutation SNP C C T rs61777509 7316-195 BS_NWXG4ZNS C C c.686G>A p.Arg229His p.R229H ENST00000643905 5/6 62 45 16 26 26 0 SLC35E2A,missense_variant,p.Arg229His,ENST00000643905,NM_182838.2;SLC35E2A,missense_variant,p.Arg229His,ENST00000355439,NM_001199787.1;AL031282.2,non_coding_transcript_exon_variant,,ENST00000598846,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000647043,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000246421,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000475229,;AL031282.1,intron_variant,,ENST00000424604,;AL031282.1,intron_variant,,ENST00000577672,;AL031282.1,downstream_gene_variant,,ENST00000417099,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000643943,;AL031282.1,upstream_gene_variant,,ENST00000418950,; T ENSG00000215790 ENST00000643905 Transcript missense_variant 1109/6293 686/801 229/266 R/H cGt/cAt rs61777509,COSM4142977 1 -1 SLC35E2A HGNC HGNC:20863 protein_coding YES CCDS33.1 ENSP00000495949 UPI000006FA83 NM_182838.2 tolerated_low_confidence(0.23) possibly_damaging(0.477) 5/6 mobidb-lite,hmmpanther:PTHR44413,hmmpanther:PTHR44413:SF1 0,1 MODERATE SNV 0,1 PASS ACG . . 0.3075 0.08801 0.2931 0.3425 0.1221 0.4248 0.3581 0.3075 0.2544 1734736 C1orf158 . GRCh38 chr1 12760937 12760937 + Missense_Mutation SNP C T T rs1132185 7316-195 BS_NWXG4ZNS C C c.571C>T p.Leu191Phe p.L191F ENST00000614859 4/4 89 9 80 27 20 7 C1orf158,missense_variant,p.Leu191Phe,ENST00000614859,NM_152290.3;C1orf158,missense_variant,p.Leu153Phe,ENST00000376210,; T ENSG00000157330 ENST00000614859 Transcript missense_variant 787/3549 571/585 191/194 L/F Ctc/Ttc rs1132185 1 1 C1orf158 HGNC HGNC:28567 protein_coding YES CCDS147.1 ENSP00000477802 Q8N1D5 UPI000006E055 NM_152290.3 deleterious(0.03) benign(0) 4/4 Low_complexity_(Seg):seg,hmmpanther:PTHR31180 0.1765 0.0847 0.1455 0.2192 0.2127 0.2413 MODERATE 1 SNV 1 PASS TCT . . 12760937 RHCE . GRCh38 chr1 25420739 25420739 + Missense_Mutation SNP G C C rs586178 7316-195 BS_NWXG4ZNS G G c.48C>G p.Cys16Trp p.C16W ENST00000294413 1/10 43 6 36 28 22 6 RHCE,missense_variant,p.Cys16Trp,ENST00000294413,NM_020485.4;RHCE,missense_variant,p.Cys16Trp,ENST00000349438,NM_138618.3;RHCE,missense_variant,p.Cys16Trp,ENST00000413854,;RHCE,missense_variant,p.Cys16Trp,ENST00000340849,NM_138617.3;RHCE,missense_variant,p.Cys16Trp,ENST00000346452,NM_138616.3;RHCE,intron_variant,,ENST00000349320,;RHCE,non_coding_transcript_exon_variant,,ENST00000495048,;RHCE,missense_variant,p.Cys16Trp,ENST00000533771,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;,regulatory_region_variant,,ENSR00000003371,; C ENSG00000188672 ENST00000294413 Transcript missense_variant 176/1660 48/1254 16/417 C/W tgC/tgG rs586178,CM011810,COSM4143691,COSM1602112 1 -1 RHCE HGNC HGNC:10008 protein_coding YES CCDS30635.1 ENSP00000294413 P18577 A0A1L3H056 UPI00001D9627 NM_020485.4 tolerated(0.8) benign(0) 1/10 Prints_domain:PR00342,hmmpanther:PTHR11730,hmmpanther:PTHR11730:SF43,Transmembrane_helices:TMhelix 0.3990 0.4781 0.4481 0.2202 0.5268 0.3098 0,0,1,1 25961943,8220426,18550258 MODERATE 1 SNV 1 1,1,1,1 1 PASS CGC . . 0.4135 0.4367 0.3703 0.3766 0.2198 0.5083 0.4893 0.4674 0.2644 25420739 NBPF12 . GRCh38 chr1 146992849 146992849 + Missense_Mutation SNP A A G rs1174604726 7316-195 BS_NWXG4ZNS A A c.3986A>G p.Glu1329Gly p.E1329G ENST00000617931 34/36 54 43 11 25 24 0 NBPF12,missense_variant,p.Glu1329Gly,ENST00000617931,;NBPF12,missense_variant,p.Glu1329Gly,ENST00000617844,NM_001278141.1;NBPF12,missense_variant,p.Glu983Gly,ENST00000579935,;NBPF12,intron_variant,,ENST00000439206,;NBPF12,intron_variant,,ENST00000611443,;NBPF12,intron_variant,,ENST00000613714,;NBPF12,intron_variant,,ENST00000617614,;NBPF12,intron_variant,,ENST00000617864,; G ENSG00000268043 ENST00000617931 Transcript missense_variant 5046/7061 3986/4374 1329/1457 E/G gAg/gGg rs1174604726 1 1 NBPF12 HGNC HGNC:24297 protein_coding YES CCDS72881.1 ENSP00000478609 Q5TAG4 UPI00032968BC deleterious(0) possibly_damaging(0.617) 34/36 Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF28,SMART_domains:SM01148 MODERATE 1 SNV 5 PASS GAG . . 0.0001781 0.0009276 146992849 RPTN . GRCh38 chr1 152157860 152157860 + Missense_Mutation SNP A A T novel 7316-195 BS_NWXG4ZNS A A c.30T>A p.Ser10Arg p.S10R ENST00000316073 2/3 67 58 9 32 32 0 RPTN,missense_variant,p.Ser10Arg,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; T ENSG00000215853 ENST00000316073 Transcript missense_variant 95/3569 30/2355 10/784 S/R agT/agA 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 deleterious(0.02) benign(0.015) 2/3 cd00213,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571,Pfam_domain:PF01023,Gene3D:1.10.238.10,SMART_domains:SM01394,Superfamily_domains:SSF47473 MODERATE 1 SNV 1 PASS CAC . . 152157860 OR6K6 . GRCh38 chr1 158755648 158755648 + Missense_Mutation SNP T T A novel 7316-195 BS_NWXG4ZNS T T c.833T>A p.Phe278Tyr p.F278Y ENST00000368144 1/1 85 64 20 42 42 0 OR6K6,missense_variant,p.Phe278Tyr,ENST00000368144,;OR6K6,missense_variant,p.Phe254Tyr,ENST00000641861,NM_001005184.1;OR6N1,intron_variant,,ENST00000641189,; A ENSG00000180433 ENST00000368144 Transcript missense_variant 929/1172 833/1032 278/343 F/Y tTt/tAt 1 1 OR6K6 HGNC HGNC:15033 protein_coding YES CCDS30904.1 ENSP00000357126 Q8NGW6 UPI000015F229 deleterious(0.04) probably_damaging(1) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15914,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF132,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS TTT . . 158755648 H3F3A . GRCh38 chr1 226064434 226064434 + Missense_Mutation SNP A A T rs1057519903 7316-195 BS_NWXG4ZNS A A c.83A>T p.Lys28Met p.K28M ENST00000366813 1/3 83 45 37 39 38 0 H3F3A,missense_variant,p.Lys28Met,ENST00000366814,;H3F3A,missense_variant,p.Lys28Met,ENST00000366813,;H3F3A,missense_variant,p.Lys28Met,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Lys28Met,ENST00000366816,;AL512343.2,upstream_gene_variant,,ENST00000609423,;,regulatory_region_variant,,ENSR00000021067,; T ENSG00000163041 ENST00000366813 Transcript missense_variant 458/1308 83/411 28/136 K/M aAg/aTg rs1057519903,COSM327928,COSM1961654 1 1 H3F3A HGNC HGNC:4764 protein_coding YES CCDS1550.1 ENSP00000355778 P84243 B2R4P9 UPI00000007B0 deleterious_low_confidence(0.01) possibly_damaging(0.697) 1/3 Gene3D:1.10.20.10,PDB-ENSP_mappings:3av2.A,PDB-ENSP_mappings:3av2.E,PDB-ENSP_mappings:3muk.D,PDB-ENSP_mappings:3wtp.E,PDB-ENSP_mappings:4h9n.A,PDB-ENSP_mappings:4h9o.A,PDB-ENSP_mappings:4h9p.A,PDB-ENSP_mappings:4h9q.A,PDB-ENSP_mappings:4h9r.A,PDB-ENSP_mappings:4h9s.A,PDB-ENSP_mappings:4h9s.B,PDB-ENSP_mappings:4hga.B,PDB-ENSP_mappings:4n4i.B,PDB-ENSP_mappings:5ay8.A,PDB-ENSP_mappings:5ay8.E,PDB-ENSP_mappings:5b32.A,PDB-ENSP_mappings:5b32.E,PDB-ENSP_mappings:5b33.A,PDB-ENSP_mappings:5b33.E,PDB-ENSP_mappings:5dwq.F,PDB-ENSP_mappings:5dwq.G,PDB-ENSP_mappings:5dx0.F,PDB-ENSP_mappings:5dx0.G,PDB-ENSP_mappings:5dx0.H,PDB-ENSP_mappings:5dx0.I,PDB-ENSP_mappings:5kdm.A,PDB-ENSP_mappings:5x7x.A,PDB-ENSP_mappings:5x7x.E,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Superfamily_domains:SSF47113,mobidb-lite likely_pathogenic 1,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS AAG . . 226064434 HS6ST1 . GRCh38 chr2 128318223 128318223 + Missense_Mutation SNP A A C rs199993343 7316-195 BS_NWXG4ZNS A A c.341T>G p.Val114Gly p.V114G ENST00000259241 1/2 53 42 11 20 20 0 HS6ST1,missense_variant,p.Val114Gly,ENST00000259241,NM_004807.2;HS6ST1,non_coding_transcript_exon_variant,,ENST00000494089,;HS6ST1,non_coding_transcript_exon_variant,,ENST00000469019,;,regulatory_region_variant,,ENSR00000122968,; C ENSG00000136720 ENST00000259241 Transcript missense_variant 355/3932 341/1236 114/411 V/G gTg/gGg rs199993343,COSM131258 1 -1 HS6ST1 HGNC HGNC:5201 protein_coding YES CCDS42748.1 ENSP00000259241 O60243 UPI0000D61231 NM_004807.2 tolerated(0.34) possibly_damaging(0.679) 1/2 Gene3D:3.40.50.300,Pfam_domain:PF03567,hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF1,Superfamily_domains:SSF52540 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAC . . 0.1165 0.02959 0.1673 0.1178 0.1414 0.162 0.1141 0.111 0.07682 128318223 HS6ST1 . GRCh38 chr2 128318303 128318303 + Missense_Mutation SNP G G T rs200979099 7316-195 BS_NWXG4ZNS G G c.261C>A p.Asp87Glu p.D87E ENST00000259241 1/2 62 49 13 27 27 0 HS6ST1,missense_variant,p.Asp87Glu,ENST00000259241,NM_004807.2;HS6ST1,non_coding_transcript_exon_variant,,ENST00000494089,;HS6ST1,non_coding_transcript_exon_variant,,ENST00000469019,;,regulatory_region_variant,,ENSR00000122968,; T ENSG00000136720 ENST00000259241 Transcript missense_variant 275/3932 261/1236 87/411 D/E gaC/gaA rs200979099,COSM1481920 1 -1 HS6ST1 HGNC HGNC:5201 protein_coding YES CCDS42748.1 ENSP00000259241 O60243 UPI0000D61231 NM_004807.2 deleterious(0) probably_damaging(0.991) 1/2 Gene3D:3.40.50.300,Pfam_domain:PF03567,hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF1,Superfamily_domains:SSF52540 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGT . . 0.4245 0.2281 0.4377 0.4416 0.4083 0.4721 0.4525 0.4267 0.3538 128318303 ZEB2 . GRCh38 chr2 144389881 144389881 + Missense_Mutation SNP T T C novel 7316-195 BS_NWXG4ZNS T T c.3215A>G p.Gln1072Arg p.Q1072R ENST00000627532 10/10 67 45 22 27 25 0 ZEB2,missense_variant,p.Gln1097Arg,ENST00000636471,;ZEB2,missense_variant,p.Gln1072Arg,ENST00000627532,NM_014795.3;ZEB2,missense_variant,p.Gln960Arg,ENST00000638087,;ZEB2,missense_variant,p.Gln960Arg,ENST00000637304,;ZEB2,missense_variant,p.Gln960Arg,ENST00000638007,;ZEB2,missense_variant,p.Gln960Arg,ENST00000637045,;ZEB2,missense_variant,p.Gln960Arg,ENST00000636413,;ZEB2,missense_variant,p.Gln813Arg,ENST00000638128,;ZEB2,missense_variant,p.Gln1072Arg,ENST00000409487,;ZEB2,missense_variant,p.Gln1072Arg,ENST00000636026,;ZEB2,missense_variant,p.Gln1048Arg,ENST00000539609,NM_001171653.1;ZEB2,missense_variant,p.Gln1072Arg,ENST00000558170,;ZEB2,missense_variant,p.Gln1071Arg,ENST00000303660,;ZEB2,3_prime_UTR_variant,,ENST00000647488,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,intron_variant,,ENST00000639389,;ZEB2,downstream_gene_variant,,ENST00000637873,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636820,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636179,;ZEB2,3_prime_UTR_variant,,ENST00000636732,; C ENSG00000169554 ENST00000627532 Transcript missense_variant 3741/9541 3215/3645 1072/1214 Q/R cAg/cGg 1 -1 ZEB2 HGNC HGNC:14881 protein_coding YES CCDS2186.1 ENSP00000487174 O60315 UPI00001359A2 NM_014795.3 deleterious(0) probably_damaging(0.932) 10/10 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF11,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 1 PASS CTG . . 144389881 TTC21B . GRCh38 chr2 165929278 165929280 + In_Frame_Del DEL CTT CTT - novel 7316-195 BS_NWXG4ZNS CTT CTT c.1241_1243del p.Glu414del p.E414del ENST00000243344 11/29 63 42 19 44 43 0 TTC21B,inframe_deletion,p.Glu414del,ENST00000243344,NM_024753.4;TTC21B-AS1,upstream_gene_variant,,ENST00000440322,;TTC21B-AS1,upstream_gene_variant,,ENST00000443032,;TTC21B,non_coding_transcript_exon_variant,,ENST00000464374,;TTC21B-AS1,upstream_gene_variant,,ENST00000446624,; - ENSG00000123607 ENST00000243344 Transcript inframe_deletion 1379-1381/5482 1241-1243/3951 414-415/1316 EV/V gAAGtt/gtt 1 -1 TTC21B HGNC HGNC:25660 protein_coding YES CCDS33315.1 ENSP00000243344 Q7Z4L5 UPI000020900A NM_024753.4 11/29 hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF1,Gene3D:1.25.40.10 MODERATE 1 deletion 1 1 PASS AACTTC . . 165929277 PBRM1 . GRCh38 chr3 52642048 52642049 + Splice_Region DEL AC AC - rs796393989,rs1491243173 7316-195 BS_NWXG4ZNS AC AC c.996-4_996-3del ENST00000394830 49 38 5 32 26 0 PBRM1,splice_region_variant,,ENST00000296302,;PBRM1,splice_region_variant,,ENST00000337303,;PBRM1,splice_region_variant,,ENST00000356770,;PBRM1,splice_region_variant,,ENST00000394830,NM_018313.4;PBRM1,splice_region_variant,,ENST00000409057,;PBRM1,splice_region_variant,,ENST00000409114,;PBRM1,splice_region_variant,,ENST00000409767,;PBRM1,splice_region_variant,,ENST00000410007,;PBRM1,splice_region_variant,,ENST00000423351,;PBRM1,splice_region_variant,,ENST00000446103,;PBRM1,splice_region_variant,,ENST00000412587,; - ENSG00000163939 ENST00000394830 Transcript splice_region_variant,intron_variant rs796393989,rs1491243173,COSM5829735,COSM5829734,COSM5829733 1 -1 PBRM1 HGNC HGNC:30064 protein_coding YES CCDS43099.1 ENSP00000378307 Q86U86 UPI000013E31E NM_018313.4 10/29 0,0,1,1,1 LOW 1 deletion 1 0,0,1,1,1 1 PASS CTACA . . 0.0008733 0.0002834 0.001994 0.001114 0.0006426 0.00174 0.0006911 0.0009385 0.0002478 52642047 PBRM1 . GRCh38 chr3 52642051 52642051 + Splice_Region SNP A A T rs750205277 7316-195 BS_NWXG4ZNS A A c.996-6T>A ENST00000394830 47 42 5 30 27 0 PBRM1,splice_region_variant,,ENST00000296302,;PBRM1,splice_region_variant,,ENST00000337303,;PBRM1,splice_region_variant,,ENST00000356770,;PBRM1,splice_region_variant,,ENST00000394830,NM_018313.4;PBRM1,splice_region_variant,,ENST00000409057,;PBRM1,splice_region_variant,,ENST00000409114,;PBRM1,splice_region_variant,,ENST00000409767,;PBRM1,splice_region_variant,,ENST00000410007,;PBRM1,splice_region_variant,,ENST00000423351,;PBRM1,splice_region_variant,,ENST00000446103,;PBRM1,splice_region_variant,,ENST00000412587,; T ENSG00000163939 ENST00000394830 Transcript splice_region_variant,intron_variant rs750205277,COSM4325773,COSM4325772,COSM4325771 1 -1 PBRM1 HGNC HGNC:30064 protein_coding YES CCDS43099.1 ENSP00000378307 Q86U86 UPI000013E31E NM_018313.4 10/29 0,1,1,1 LOW 1 SNV 1 0,1,1,1 1 PASS AAA . . 0.001484 0.0005811 0.003279 0.002365 0.00118 0.002638 0.001034 0.00173 0.0007026 52642051 DNAH12 . GRCh38 chr3 57425050 57425050 + Missense_Mutation SNP G G T novel 7316-195 BS_NWXG4ZNS G G c.5345C>A p.Thr1782Asn p.T1782N ENST00000495027 35/74 61 56 5 53 52 0 DNAH12,missense_variant,p.Thr1782Asn,ENST00000495027,NM_001291661.1;DNAH12,intron_variant,,ENST00000351747,; T ENSG00000174844 ENST00000495027 Transcript missense_variant 5526/12146 5345/11883 1782/3960 T/N aCt/aAt 1 -1 DNAH12 HGNC HGNC:2943 protein_coding ENSP00000418137 E9PG32 UPI0004620994 NM_001291661.1 tolerated(0.39) benign(0.001) 35/74 hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255 MODERATE 1 SNV 5 PASS AGT . . 57425050 TMEM207 . GRCh38 chr3 190440306 190440306 + Missense_Mutation SNP C C T rs374274239 7316-195 BS_NWXG4ZNS C C c.242G>A p.Arg81Gln p.R81Q ENST00000354905 4/5 59 29 30 46 45 0 TMEM207,missense_variant,p.Arg81Gln,ENST00000354905,NM_207316.2; T ENSG00000198398 ENST00000354905 Transcript missense_variant 309/1448 242/441 81/146 R/Q cGa/cAa rs374274239,COSM1693963 1 -1 TMEM207 HGNC HGNC:33705 protein_coding YES CCDS3297.1 ENSP00000346981 Q6UWW9 UPI0000048F12 NM_207316.2 tolerated(0.65) benign(0.014) 4/5 hmmpanther:PTHR36467 0.000227 0,1 MODERATE 1 SNV 1 0,1 PASS TCG . . 1.219e-05 0.0001307 2.979e-05 190440306 MUC4 . GRCh38 chr3 195783847 195783847 + Missense_Mutation SNP G G T rs80005560 7316-195 BS_NWXG4ZNS G G c.7733C>A p.Pro2578His p.P2578H ENST00000463781 2/25 93 51 24 30 24 1 MUC4,missense_variant,p.Pro2578His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2578His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2578His,ENST00000478156,;MUC4,missense_variant,p.Pro2578His,ENST00000466475,;MUC4,missense_variant,p.Pro2578His,ENST00000477756,;MUC4,missense_variant,p.Pro2578His,ENST00000477086,;MUC4,missense_variant,p.Pro2578His,ENST00000480843,;MUC4,missense_variant,p.Pro2578His,ENST00000462323,;MUC4,missense_variant,p.Pro2578His,ENST00000470451,;MUC4,missense_variant,p.Pro2578His,ENST00000479406,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 8193/17110 7733/16239 2578/5412 P/H cCt/cAt rs80005560,COSM4590988 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.05) possibly_damaging(0.897) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS AGG . . 195783847 DNAH5 . GRCh38 chr5 13870882 13870882 + Missense_Mutation SNP T T C rs1268963411 7316-195 BS_NWXG4ZNS T T c.3719A>G p.Asn1240Ser p.N1240S ENST00000265104 24/79 82 74 7 41 41 0 DNAH5,missense_variant,p.Asn1240Ser,ENST00000265104,NM_001369.2;AC016576.1,intron_variant,,ENST00000503244,;AC016576.1,intron_variant,,ENST00000637153,; C ENSG00000039139 ENST00000265104 Transcript missense_variant 3824/15633 3719/13875 1240/4624 N/S aAt/aGt rs1268963411,COSM5021465 1 -1 DNAH5 HGNC HGNC:2950 protein_coding YES CCDS3882.1 ENSP00000265104 Q8TE73 UPI0000110101 NM_001369.2 tolerated(0.94) benign(0) 24/79 hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240 0,1 MODERATE 1 SNV 1 0,1 1 PASS ATT . . 13870882 NEDD9 . GRCh38 chr6 11188283 11188283 + Missense_Mutation SNP G G T 7316-195 BS_NWXG4ZNS G G c.1930C>A p.Gln644Lys p.Q644K ENST00000379446 6/7 81 53 27 39 38 0 NEDD9,missense_variant,p.Gln644Lys,ENST00000379446,NM_006403.3;NEDD9,missense_variant,p.Gln495Lys,ENST00000620854,NM_001271033.1;NEDD9,missense_variant,p.Gln644Lys,ENST00000504387,NM_001142393.1;AL139807.1,intron_variant,,ENST00000500636,;NEDD9,3_prime_UTR_variant,,ENST00000448183,;NEDD9,downstream_gene_variant,,ENST00000505589,;,regulatory_region_variant,,ENSR00000193082,; T ENSG00000111859 ENST00000379446 Transcript missense_variant 2097/4536 1930/2505 644/834 Q/K Cag/Aag COSM5956855,COSM5956854,COSM5956853 1 -1 NEDD9 HGNC HGNC:7733 protein_coding YES CCDS4520.1 ENSP00000368759 Q14511 UPI000000D981 NM_006403.3 deleterious(0) probably_damaging(0.999) 6/7 Gene3D:1.20.1420.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12026,hmmpanther:PTHR10654,hmmpanther:PTHR10654:SF20 1,1,1 MODERATE 1 SNV 1 1,1,1 PASS TGT . . 11188283 FAM8A1 . GRCh38 chr6 17608236 17608237 + Frame_Shift_Ins INS - - T rs1329369011 7316-195 BS_NWXG4ZNS - - c.1145dup p.Ala384CysfsTer11 p.A384Cfs*11 ENST00000259963 5/5 99 82 7 46 42 0 FAM8A1,frameshift_variant,p.Ala384CysfsTer11,ENST00000259963,NM_016255.2; T ENSG00000137414 ENST00000259963 Transcript frameshift_variant 1194-1195/4677 1139-1140/1242 380/413 S/SX tct/tcTt rs1329369011 1 1 FAM8A1 HGNC HGNC:16372 protein_coding YES CCDS4540.1 ENSP00000259963 Q9UBU6 A0A024R006 UPI0000062300 NM_016255.2 5/5 Pfam_domain:PF06271,hmmpanther:PTHR13659,Transmembrane_helices:TMhelix HIGH 1 insertion 1 6 PASS TCT . . 17608236 FAM8A1 . GRCh38 chr6 17608280 17608280 + Nonsense_Mutation SNP C C T rs200041366 7316-195 BS_NWXG4ZNS C C c.1183C>T p.Arg395Ter p.R395* ENST00000259963 5/5 96 82 13 47 46 0 FAM8A1,stop_gained,p.Arg395Ter,ENST00000259963,NM_016255.2; T ENSG00000137414 ENST00000259963 Transcript stop_gained 1238/4677 1183/1242 395/413 R/* Cga/Tga rs200041366,COSM4393701 1 1 FAM8A1 HGNC HGNC:16372 protein_coding YES CCDS4540.1 ENSP00000259963 Q9UBU6 A0A024R006 UPI0000062300 NM_016255.2 5/5 Pfam_domain:PF06271,hmmpanther:PTHR13659 0,1 HIGH 1 SNV 1 0,1 PASS TCG . . 8.153e-06 9.006e-06 0.0001827 17608280 FAM8A1 . GRCh38 chr6 17608296 17608296 + Missense_Mutation SNP T T C rs200658703 7316-195 BS_NWXG4ZNS T T c.1199T>C p.Ile400Thr p.I400T ENST00000259963 5/5 108 90 17 43 42 0 FAM8A1,missense_variant,p.Ile400Thr,ENST00000259963,NM_016255.2; C ENSG00000137414 ENST00000259963 Transcript missense_variant 1254/4677 1199/1242 400/413 I/T aTt/aCt rs200658703,COSM4387313 1 1 FAM8A1 HGNC HGNC:16372 protein_coding YES CCDS4540.1 ENSP00000259963 Q9UBU6 A0A024R006 UPI0000062300 NM_016255.2 deleterious(0) probably_damaging(0.971) 5/5 Pfam_domain:PF06271,hmmpanther:PTHR13659 0,1 MODERATE 1 SNV 1 0,1 PASS ATT . . 8.174e-06 9.012e-06 0.0001838 17608296 BTN1A1 . GRCh38 chr6 26501371 26501372 + Splice_Region DEL TC TC - rs376454510 7316-195 BS_NWXG4ZNS TC TC c.79+19_79+20del ENST00000244513 80 65 6 29 26 0 BTN1A1,splice_region_variant,,ENST00000244513,NM_001732.2;BTN1A1,splice_region_variant,,ENST00000613186,; - ENSG00000124557 ENST00000244513 Transcript splice_region_variant,intron_variant rs376454510,TMP_ESP_6_26501599_26501600,COSM1724469 1 1 BTN1A1 HGNC HGNC:1135 protein_coding YES CCDS4614.1 ENSP00000244513 Q13410 UPI000006E521 NM_001732.2 1/6 0.01829 0.02326 0,0,1 LOW 1 deletion 1 13 0,0,1 PASS AGTCT . . 0.000489 0.0003766 0.0004001 0.000242 0.0001381 0.0002517 0.0007218 0.0002205 0.000279 26501370 TRBV5-3 . GRCh38 chr7 142389370 142389370 + Splice_Region SNP C C T rs748337645 7316-195 BS_NWXG4ZNS C C c.50-5C>T ENST00000390362 83 65 18 32 32 0 TRBV5-3,splice_region_variant,,ENST00000390362,;TRBV7-3,downstream_gene_variant,,ENST00000390361,;TRBV9,upstream_gene_variant,,ENST00000390363,;TRBV8-2,downstream_gene_variant,,ENST00000475637,; T ENSG00000211715 ENST00000390362 Transcript splice_region_variant,intron_variant rs748337645 1 1 TRBV5-3 HGNC HGNC:12220 TR_V_gene YES ENSP00000374885 A0A0A0MS03 UPI000011DFCC 1/1 LOW 1 SNV PASS CCA . . 142389370 TRBV5-3 . GRCh38 chr7 142389371 142389371 + Splice_Region SNP A A G rs779037578 7316-195 BS_NWXG4ZNS A A c.50-4A>G ENST00000390362 84 66 18 32 32 0 TRBV5-3,splice_region_variant,,ENST00000390362,;TRBV7-3,downstream_gene_variant,,ENST00000390361,;TRBV9,upstream_gene_variant,,ENST00000390363,;TRBV8-2,downstream_gene_variant,,ENST00000475637,; G ENSG00000211715 ENST00000390362 Transcript splice_region_variant,intron_variant rs779037578 1 1 TRBV5-3 HGNC HGNC:12220 TR_V_gene YES ENSP00000374885 A0A0A0MS03 UPI000011DFCC 1/1 LOW 1 SNV PASS CAC . . 142389371 TRBV5-3 . GRCh38 chr7 142389471 142389471 + Missense_Mutation SNP G G C rs746337779 7316-195 BS_NWXG4ZNS G G c.146G>C p.Ser49Thr p.S49T ENST00000390362 2/2 87 70 17 37 37 0 TRBV5-3,missense_variant,p.Ser49Thr,ENST00000390362,;TRBV7-3,downstream_gene_variant,,ENST00000390361,;TRBV9,upstream_gene_variant,,ENST00000390363,;TRBV8-2,downstream_gene_variant,,ENST00000475637,; C ENSG00000211715 ENST00000390362 Transcript missense_variant 146/343 146/343 49/114 S/T aGc/aCc rs746337779 1 1 TRBV5-3 HGNC HGNC:12220 TR_V_gene YES ENSP00000374885 A0A0A0MS03 UPI000011DFCC tolerated(0.76) benign(0.013) 2/2 MODERATE 1 SNV PASS AGC . . 142389471 TRBV5-3 . GRCh38 chr7 142389480 142389480 + Missense_Mutation SNP C C A rs781570489 7316-195 BS_NWXG4ZNS C C c.155C>A p.Ser52Tyr p.S52Y ENST00000390362 2/2 85 68 17 38 38 0 TRBV5-3,missense_variant,p.Ser52Tyr,ENST00000390362,;TRBV7-3,downstream_gene_variant,,ENST00000390361,;TRBV9,upstream_gene_variant,,ENST00000390363,;TRBV8-2,downstream_gene_variant,,ENST00000475637,; A ENSG00000211715 ENST00000390362 Transcript missense_variant 155/343 155/343 52/114 S/Y tCc/tAc rs781570489 1 1 TRBV5-3 HGNC HGNC:12220 TR_V_gene YES ENSP00000374885 A0A0A0MS03 UPI000011DFCC tolerated(1) benign(0.007) 2/2 MODERATE 1 SNV PASS TCC . . 142389480 TRBV5-3 . GRCh38 chr7 142389498 142389498 + Missense_Mutation SNP C C T rs758101136 7316-195 BS_NWXG4ZNS C C c.173C>T p.Pro58Leu p.P58L ENST00000390362 2/2 80 66 13 39 38 0 TRBV5-3,missense_variant,p.Pro58Leu,ENST00000390362,;TRBV7-3,downstream_gene_variant,,ENST00000390361,;TRBV9,upstream_gene_variant,,ENST00000390363,;TRBV8-2,downstream_gene_variant,,ENST00000475637,; T ENSG00000211715 ENST00000390362 Transcript missense_variant 173/343 173/343 58/114 P/L cCg/cTg rs758101136 1 1 TRBV5-3 HGNC HGNC:12220 TR_V_gene YES ENSP00000374885 A0A0A0MS03 UPI000011DFCC tolerated(1) benign(0) 2/2 MODERATE 1 SNV PASS CCG . . 142389498 OR2A2 . GRCh38 chr7 144109655 144109655 + Missense_Mutation SNP C C G 7316-195 BS_NWXG4ZNS C C c.73C>G p.Leu25Val p.L25V ENST00000408979 1/1 64 48 15 35 34 0 OR2A2,missense_variant,p.Leu25Val,ENST00000408979,NM_001005480.2; G ENSG00000221989 ENST00000408979 Transcript missense_variant 142/1051 73/957 25/318 L/V Ctc/Gtc COSM6109265 1 1 OR2A2 HGNC HGNC:8230 protein_coding YES CCDS43671.1 ENSP00000386209 Q6IF42 A0A126GW45 UPI0000061E70 NM_001005480.2 tolerated(0.15) benign(0.005) 1/1 Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF82,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15420 1 MODERATE 1 SNV 1 PASS TCT . . 144109655 WASHC1 . GRCh38 chr9 15978 15978 + Missense_Mutation SNP C C T rs200633435 7316-195 BS_NWXG4ZNS C C c.1126G>A p.Gly376Ser p.G376S ENST00000442898 9/11 81 64 17 38 38 0 WASHC1,missense_variant,p.Gly376Ser,ENST00000442898,NM_182905.4;DDX11L5,downstream_gene_variant,,ENST00000421620,; T ENSG00000181404 ENST00000442898 Transcript missense_variant 1269/1827 1126/1398 376/465 G/S Ggc/Agc rs200633435 1 -1 WASHC1 HGNC HGNC:24361 protein_coding YES CCDS78375.1 ENSP00000485627 A8K0Z3 UPI0000251DC1 NM_182905.4 deleterious(0.01) probably_damaging(0.978) 9/11 mobidb-lite,hmmpanther:PTHR23331 MODERATE 1 SNV 2 PASS CCG . . 0.003704 0.03676 0.001265 0.001434 0.007726 0.001169 0.002191 0.002235 0.002293 15978 RTKN2 . GRCh38 chr10 62262824 62262824 + Splice_Region DEL A A - rs781147984 7316-195 BS_NWXG4ZNS A A c.61-3del ENST00000373789 62 51 7 39 38 0 RTKN2,splice_region_variant,,ENST00000373789,NM_145307.3;RTKN2,splice_region_variant,,ENST00000395260,NM_001282941.1; - ENSG00000182010 ENST00000373789 Transcript splice_region_variant,intron_variant rs781147984,TMP_ESP_10_64022583_64022583,COSM5359802,COSM1580338 1 -1 RTKN2 HGNC HGNC:19364 protein_coding YES CCDS7263.1 ENSP00000362894 Q8IZC4 UPI000007413A NM_145307.3 1/11 0.03664 0.03769 0,0,1,1 LOW 1 deletion 1 0,0,1,1 PASS CTAA . . 0.02933 0.01694 0.05265 0.04137 0.02835 0.01449 0.02504 0.03441 0.04592 62262823 KAT6B . GRCh38 chr10 75030629 75030630 + Frame_Shift_Ins INS - - A novel 7316-195 BS_NWXG4ZNS - - c.5805_5806insA p.Ala1936SerfsTer110 p.A1936Sfs*110 ENST00000287239 18/18 47 24 22 35 33 0 KAT6B,frameshift_variant,p.Ala1936SerfsTer110,ENST00000287239,NM_012330.3;KAT6B,frameshift_variant,p.Ala1753SerfsTer110,ENST00000372711,NM_001256468.1;KAT6B,frameshift_variant,p.Ala1644SerfsTer110,ENST00000372724,NM_001256469.1;KAT6B,frameshift_variant,p.Ala1644SerfsTer110,ENST00000372725,;KAT6B,frameshift_variant,p.Ala1644SerfsTer110,ENST00000372714,;KAT6B,downstream_gene_variant,,ENST00000490365,; A ENSG00000156650 ENST00000287239 Transcript frameshift_variant 6294-6295/8287 5805-5806/6222 1935-1936/2073 -/X -/A 1 1 KAT6B HGNC HGNC:17582 protein_coding YES CCDS7345.1 ENSP00000287239 Q8WYB5 UPI000013DEA0 NM_012330.3 18/18 hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF73 HIGH 1 insertion 1 1 PASS CCG . . 75030629 KAT6B . GRCh38 chr10 75030630 75030630 + Missense_Mutation SNP G G T rs372902605 7316-195 BS_NWXG4ZNS G G c.5806G>T p.Ala1936Ser p.A1936S ENST00000287239 18/18 47 24 21 34 33 0 KAT6B,missense_variant,p.Ala1936Ser,ENST00000287239,NM_012330.3;KAT6B,missense_variant,p.Ala1753Ser,ENST00000372711,NM_001256468.1;KAT6B,missense_variant,p.Ala1644Ser,ENST00000372724,NM_001256469.1;KAT6B,missense_variant,p.Ala1644Ser,ENST00000372725,;KAT6B,missense_variant,p.Ala1644Ser,ENST00000372714,;KAT6B,downstream_gene_variant,,ENST00000490365,; T ENSG00000156650 ENST00000287239 Transcript missense_variant 6295/8287 5806/6222 1936/2073 A/S Gct/Tct rs372902605 1 1 KAT6B HGNC HGNC:17582 protein_coding YES CCDS7345.1 ENSP00000287239 Q8WYB5 UPI000013DEA0 NM_012330.3 tolerated_low_confidence(0.1) benign(0.23) 18/18 hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF73 MODERATE 1 SNV 1 1 PASS CGC . . 1.219e-05 8.933e-05 75030630 MKI67 . GRCh38 chr10 128106445 128106445 + Missense_Mutation SNP A A C rs1379616355 7316-195 BS_NWXG4ZNS A A c.5395T>G p.Leu1799Val p.L1799V ENST00000368654 13/15 56 49 6 38 36 2 MKI67,missense_variant,p.Leu1799Val,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Leu1439Val,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,; C ENSG00000148773 ENST00000368654 Transcript missense_variant 5771/12678 5395/9771 1799/3256 L/V Ttg/Gtg rs1379616355 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 tolerated(0.28) benign(0) 13/15 Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295 MODERATE 1 SNV 2 PASS AAA . . 128106445 DCDC1 . GRCh38 chr11 31064488 31064488 + Missense_Mutation SNP G G T rs1389889357 7316-195 BS_NWXG4ZNS G G c.2572C>A p.Pro858Thr p.P858T ENST00000597505 18/36 44 39 5 46 46 0 DCDC1,missense_variant,p.Pro858Thr,ENST00000597505,;DCDC1,non_coding_transcript_exon_variant,,ENST00000437348,;DCDC1,3_prime_UTR_variant,,ENST00000342355,; T ENSG00000170959 ENST00000597505 Transcript missense_variant 2572/5352 2572/5352 858/1783 P/T Cct/Act rs1389889357,COSM3446713 1 -1 DCDC1 HGNC HGNC:20625 protein_coding ENSP00000472625 M0R2J8 UPI0002A47319 tolerated(0.05) possibly_damaging(0.88) 18/36 Gene3D:2.80.10.50 0,1 MODERATE SNV 5 0,1 PASS GGA . . 31064488 DGKZ . GRCh38 chr11 46347688 46347688 + Missense_Mutation SNP C C A rs76656670 7316-195 BS_NWXG4ZNS C C c.29C>A p.Ala10Asp p.A10D ENST00000456247 1/31 99 88 10 46 44 0 DGKZ,missense_variant,p.Ala10Asp,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala10Asp,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 117/3482 29/2787 10/928 A/D gCc/gAc rs76656670,COSM228548 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 tolerated_low_confidence(0.59) probably_damaging(0.991) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS GCC . . 0.3023 0.1359 0.2655 0.3276 0.1687 0.35 0.3649 0.3035 0.2366 46347688 AC130364.1 . GRCh38 chr11 49822932 49822932 + Splice_Site SNP A A T rs1351052533 7316-195 BS_NWXG4ZNS A A n.615+2A>T ENST00000532682 63 50 9 29 29 0 AC130364.1,splice_donor_variant,,ENST00000532682,;AC130364.2,downstream_gene_variant,,ENST00000528639,; T ENSG00000254487 ENST00000532682 Transcript splice_donor_variant,non_coding_transcript_variant rs1351052533 1 1 AC130364.1 Clone_based_ensembl_gene unprocessed_pseudogene YES 3/4 HIGH 1 SNV PASS GAG . . 49822932 UBE4A . GRCh38 chr11 118384947 118384947 + Splice_Site SNP T T A novel 7316-195 BS_NWXG4ZNS T T c.2433+2T>A p.X811_splice ENST00000431736 61 44 8 37 32 0 UBE4A,splice_donor_variant,,ENST00000252108,NM_001204077.1;UBE4A,splice_donor_variant,,ENST00000431736,NM_004788.3;UBE4A,splice_donor_variant,,ENST00000545354,; A ENSG00000110344 ENST00000431736 Transcript splice_donor_variant 1 1 UBE4A HGNC HGNC:12499 protein_coding YES CCDS8396.1 ENSP00000387362 Q14139 UPI000013CD3F NM_004788.3 15/19 HIGH 1 SNV 1 PASS GTA . . 118384947 DDX11 . GRCh38 chr12 31094748 31094748 + Splice_Region SNP T T C rs61917225 7316-195 BS_NWXG4ZNS T T c.1415-7T>C ENST00000545668 90 64 25 31 30 1 DDX11,splice_region_variant,,ENST00000228264,NM_001257145.1;DDX11,splice_region_variant,,ENST00000350437,NM_004399.2;DDX11,splice_region_variant,,ENST00000542838,NM_030653.3;DDX11,splice_region_variant,,ENST00000545668,NM_152438.1,NM_001257144.1;DDX11,downstream_gene_variant,,ENST00000438391,;DDX11,splice_region_variant,,ENST00000539673,;DDX11,downstream_gene_variant,,ENST00000545717,;DDX11,splice_region_variant,,ENST00000435753,;DDX11,splice_region_variant,,ENST00000536265,;DDX11,splice_region_variant,,ENST00000536580,;DDX11,splice_region_variant,,ENST00000539049,;DDX11,splice_region_variant,,ENST00000543511,;DDX11,intron_variant,,ENST00000538345,;DDX11,downstream_gene_variant,,ENST00000535158,;DDX11,upstream_gene_variant,,ENST00000539699,;DDX11,downstream_gene_variant,,ENST00000540935,;DDX11,downstream_gene_variant,,ENST00000542129,;DDX11,upstream_gene_variant,,ENST00000542661,;DDX11,downstream_gene_variant,,ENST00000543026,; C ENSG00000013573 ENST00000545668 Transcript splice_region_variant,intron_variant rs61917225,COSM5021752,COSM5021751 1 1 DDX11 HGNC HGNC:2736 protein_coding YES CCDS44856.1 ENSP00000440402 Q96FC9 UPI000006F88F NM_152438.1,NM_001257144.1 13/26 0,1,1 LOW 1 SNV 1 0,1,1 1 PASS GTT . . 0.02667 0.02582 0.03839 0.01079 0.01177 0.07391 0.01893 0.01817 0.02385 31094748 FAM186A . GRCh38 chr12 50352775 50352775 + Missense_Mutation SNP T T G rs781639128 7316-195 BS_NWXG4ZNS T T c.4057A>C p.Thr1353Pro p.T1353P ENST00000327337 4/8 81 51 14 21 17 0 FAM186A,missense_variant,p.Thr1353Pro,ENST00000543111,;FAM186A,missense_variant,p.Thr1353Pro,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 4057/7127 4057/7056 1353/2351 T/P Act/Cct rs781639128,COSM5034239 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GTG . . 0.008573 0.02732 0.01064 0.002382 0.04563 0.0007623 0.007809 0.007618 0.006644 50352775 TDG . GRCh38 chr12 103979950 103979951 + Frame_Shift_Ins INS - - A rs151041931 7316-195 BS_NWXG4ZNS - - c.292dup p.Ile98AsnfsTer6 p.I98Nfs*6 ENST00000392872 3/10 88 61 15 53 48 0 TDG,frameshift_variant,p.Ile98AsnfsTer6,ENST00000392872,NM_003211.4;TDG,frameshift_variant,p.Ile94AsnfsTer6,ENST00000266775,;TDG,frameshift_variant,p.Ile98AsnfsTer6,ENST00000537100,;TDG,frameshift_variant,p.Ile73AsnfsTer6,ENST00000436021,;TDG,5_prime_UTR_variant,,ENST00000544861,;TDG,non_coding_transcript_exon_variant,,ENST00000542926,;TDG,non_coding_transcript_exon_variant,,ENST00000544060,;TDG,non_coding_transcript_exon_variant,,ENST00000545698,;TDG,upstream_gene_variant,,ENST00000540956,; A ENSG00000139372 ENST00000392872 Transcript frameshift_variant 520-521/3251 286-287/1233 96/410 E/EX gaa/gAaa rs151041931 1 1 TDG HGNC HGNC:11700 protein_coding YES CCDS9095.1 ENSP00000376611 Q13569 UPI00000740E5 NM_003211.4 3/10 PDB-ENSP_mappings:5ff8.A,PDB-ENSP_mappings:5hf7.A,PDB-ENSP_mappings:5t2w.A,Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12159,hmmpanther:PTHR12159:SF11,TIGRFAM_domain:TIGR00584 0.4722 0.4947 0.4597 0.4802 0.4324 0.4836 0.4894 0.4221 HIGH 1 insertion 1 6 PASS AGA . . 0.4401 0.4916 0.4785 0.4537 0.4788 0.433 0.4073 0.433 0.4642 103979950 CCDC168 . GRCh38 chr13 102739409 102739409 + Nonsense_Mutation SNP G G C novel 7316-195 BS_NWXG4ZNS G G c.11288C>G p.Ser3763Ter p.S3763* ENST00000322527 4/4 75 61 13 57 55 0 CCDC168,stop_gained,p.Ser3763Ter,ENST00000322527,NM_001146197.1;LINC00283,upstream_gene_variant,,ENST00000430111,; C ENSG00000175820 ENST00000322527 Transcript stop_gained 11426/21466 11288/21246 3763/7081 S/* tCa/tGa 1 -1 CCDC168 HGNC HGNC:26851 protein_coding YES CCDS73596.1 ENSP00000320232 Q8NDH2 UPI0001991308 NM_001146197.1 4/4 Pfam_domain:PF15804,hmmpanther:PTHR35542 HIGH 1 SNV 3 PASS TGA . . 102739409 F7 . GRCh38 chr13 113117525 113117525 + Missense_Mutation SNP C C T novel 7316-195 BS_NWXG4ZNS C C c.734C>T p.Thr245Ile p.T245I ENST00000375581 8/9 82 75 6 33 32 0 F7,missense_variant,p.Thr245Ile,ENST00000375581,NM_000131.4;F7,missense_variant,p.Thr161Ile,ENST00000541084,NM_001267554.1;F7,missense_variant,p.Thr223Ile,ENST00000346342,NM_019616.3;F7,downstream_gene_variant,,ENST00000473085,;F7,downstream_gene_variant,,ENST00000444337,;F7,downstream_gene_variant,,ENST00000479674,; T ENSG00000057593 ENST00000375581 Transcript missense_variant 769/3109 734/1401 245/466 T/I aCc/aTc 1 1 F7 HGNC HGNC:3544 protein_coding YES CCDS9528.1 ENSP00000364731 P08709 UPI000012A414 NM_000131.4 deleterious(0.02) possibly_damaging(0.583) 8/9 Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR44064,hmmpanther:PTHR44064:SF1,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 MODERATE 1 SNV 1 1 PASS ACC . . 113117525 ATXN3 . GRCh38 chr14 92083261 92083261 + Splice_Region DEL A A - rs146481848 7316-195 BS_NWXG4ZNS A A c.476-3del ENST00000558190 57 46 5 46 39 0 ATXN3,splice_region_variant,,ENST00000620536,;ATXN3,splice_region_variant,,ENST00000621269,;ATXN3,splice_region_variant,,ENST00000340660,NM_030660.4;ATXN3,splice_region_variant,,ENST00000393287,NM_001127697.2;ATXN3,splice_region_variant,,ENST00000429774,NM_001164779.1,NM_001164781.1;ATXN3,splice_region_variant,,ENST00000502250,NM_001164780.1;ATXN3,splice_region_variant,,ENST00000503767,NM_001127696.1;ATXN3,splice_region_variant,,ENST00000506466,;ATXN3,splice_region_variant,,ENST00000532032,;ATXN3,splice_region_variant,,ENST00000545170,;ATXN3,splice_region_variant,,ENST00000553491,;ATXN3,splice_region_variant,,ENST00000554592,;ATXN3,splice_region_variant,,ENST00000554672,;ATXN3,splice_region_variant,,ENST00000555381,;ATXN3,splice_region_variant,,ENST00000556220,;ATXN3,splice_region_variant,,ENST00000557311,;ATXN3,splice_region_variant,,ENST00000558190,NM_001164778.1,NM_004993.5;ATXN3,splice_region_variant,,ENST00000617719,;ATXN3,splice_region_variant,,ENST00000644486,;ATXN3,intron_variant,,ENST00000526872,;ATXN3,splice_region_variant,,ENST00000553287,;ATXN3,splice_region_variant,,ENST00000553309,;ATXN3,splice_region_variant,,ENST00000553498,;ATXN3,splice_region_variant,,ENST00000553686,;ATXN3,splice_region_variant,,ENST00000554040,;ATXN3,splice_region_variant,,ENST00000554214,;ATXN3,splice_region_variant,,ENST00000554491,;ATXN3,splice_region_variant,,ENST00000555958,;ATXN3,intron_variant,,ENST00000556339,;ATXN3,intron_variant,,ENST00000556644,;ATXN3,splice_region_variant,,ENST00000359366,;ATXN3,splice_region_variant,,ENST00000515746,;ATXN3,splice_region_variant,,ENST00000553488,;ATXN3,splice_region_variant,,ENST00000553570,;ATXN3,splice_region_variant,,ENST00000554350,;ATXN3,splice_region_variant,,ENST00000554673,;ATXN3,splice_region_variant,,ENST00000554994,;ATXN3,splice_region_variant,,ENST00000555816,;ATXN3,splice_region_variant,,ENST00000556082,;ATXN3,splice_region_variant,,ENST00000556315,;ATXN3,splice_region_variant,,ENST00000556374,;ATXN3,splice_region_variant,,ENST00000556958,;ATXN3,splice_region_variant,,ENST00000557030,;ATXN3,splice_region_variant,,ENST00000646485,;ATXN3,splice_region_variant,,ENST00000647161,;ATXN3,intron_variant,,ENST00000556274,;ATXN3,intron_variant,,ENST00000556288,;ATXN3,intron_variant,,ENST00000556671,;ATXN3,intron_variant,,ENST00000556898,; - ENSG00000066427 ENST00000558190 Transcript splice_region_variant,intron_variant rs146481848,COSM5658224,COSM5658223,COSM1580342 1 -1 ATXN3 HGNC HGNC:7106 protein_coding YES CCDS9900.1 ENSP00000478320 P54252 UPI000013D23A NM_001164778.1,NM_004993.5 6/10 0,1,1,1 LOW 1 deletion 1 0,1,1,1 1 PASS CTAA . . 0.02208 0.01164 0.03548 0.03196 0.01654 0.0218 0.02056 0.0267 0.02403 92083260 IGHV1-45 . GRCh38 chr14 106507070 106507070 + Missense_Mutation SNP C C A novel 7316-195 BS_NWXG4ZNS C C c.279G>T p.Arg93Ser p.R93S ENST00000390621 2/2 90 68 21 34 33 0 IGHV1-45,missense_variant,p.Arg93Ser,ENST00000390621,;IGHV1-46,downstream_gene_variant,,ENST00000390622,;LINC00221,intron_variant,,ENST00000619530,;,regulatory_region_variant,,ENSR00000073892,; A ENSG00000211961 ENST00000390621 Transcript missense_variant 337/411 279/353 93/117 R/S agG/agT 1 -1 IGHV1-45 HGNC HGNC:5553 IG_V_gene YES ENSP00000375030 A0A0A0MS14 UPI00034F2398 tolerated(0.06) benign(0.003) 2/2 MODERATE 1 SNV PASS ACC . . 106507070 TPSAB1 . GRCh38 chr16 1240946 1240946 + Missense_Mutation SNP A A G rs371929937 7316-195 BS_NWXG4ZNS A A c.8A>G p.Asn3Ser p.N3S ENST00000338844 2/6 47 35 11 20 19 0 TPSAB1,missense_variant,p.Asn10Ser,ENST00000461509,;TPSAB1,missense_variant,p.Asn3Ser,ENST00000338844,NM_003294.3;TPSAB1,upstream_gene_variant,,ENST00000561736,;TPSAB1,non_coding_transcript_exon_variant,,ENST00000562432,; G ENSG00000172236 ENST00000338844 Transcript missense_variant 41/1175 8/828 3/275 N/S aAt/aGt rs371929937,COSM4592226 1 1 TPSAB1 HGNC HGNC:12019 protein_coding YES CCDS10431.1 ENSP00000343577 Q15661 UPI0000137302 NM_003294.3 tolerated(0.51) benign(0) 2/6 hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF149,Superfamily_domains:SSF50494,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS AAT . . 0.004478 0.0009777 0.003045 0.009311 0.0001333 0.02673 0.008224 0.00299 0.001366 1240946 CREBBP . GRCh38 chr16 3757348 3757348 + Missense_Mutation SNP C C A novel 7316-195 BS_NWXG4ZNS C C c.3638G>T p.Cys1213Phe p.C1213F ENST00000262367 19/31 87 73 14 46 46 0 CREBBP,missense_variant,p.Cys1213Phe,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Cys1175Phe,ENST00000382070,NM_001079846.1;CREBBP,missense_variant,p.Cys748Phe,ENST00000570939,;CREBBP,upstream_gene_variant,,ENST00000573517,; A ENSG00000005339 ENST00000262367 Transcript missense_variant 4448/10803 3638/7329 1213/2442 C/F tGc/tTc 1 -1 CREBBP HGNC HGNC:2348 protein_coding YES CCDS10509.1 ENSP00000262367 Q92793 UPI0000000620 NM_004380.2 deleterious(0) probably_damaging(0.999) 19/31 cd15802,Pfam_domain:PF06001,hmmpanther:PTHR13808:SF5,hmmpanther:PTHR13808 MODERATE 1 SNV 1 1 PASS GCA . . 3757348 PIEZO1 . GRCh38 chr16 88733987 88733987 + Missense_Mutation SNP C C G rs202139830 7316-195 BS_NWXG4ZNS C C c.2248G>C p.Glu750Gln p.E750Q ENST00000301015 17/51 53 48 5 27 27 0 PIEZO1,missense_variant,p.Glu750Gln,ENST00000301015,NM_001142864.3;AC138028.2,intron_variant,,ENST00000440406,;AC138028.2,upstream_gene_variant,,ENST00000567968,;PIEZO1,upstream_gene_variant,,ENST00000490756,;,TF_binding_site_variant,,MA0528.1,; G ENSG00000103335 ENST00000301015 Transcript missense_variant 2504/8089 2248/7566 750/2521 E/Q Gag/Cag rs202139830,COSM4908184 1 -1 PIEZO1 HGNC HGNC:28993 protein_coding YES CCDS54058.1 ENSP00000301015 Q92508 UPI0001B300F3 NM_001142864.3 tolerated(0.45) benign(0) 17/51 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13167:SF40,hmmpanther:PTHR13167 0.0429 0.1422 0.0144 0.002 0.005 0.0102 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCC . . 0.0015 0.02395 0.001371 0.0001087 7.125e-05 0.0001683 0.000286 0.0001966 88733987 TP53 . GRCh38 chr17 7673534 7673534 + Splice_Site SNP C T T 7316-195 BS_NWXG4ZNS C C c.993+1G>A p.X331_splice ENST00000269305 82 13 68 31 31 0 TP53,splice_donor_variant,,ENST00000615910,;TP53,splice_donor_variant,,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,splice_donor_variant,,ENST00000359597,;TP53,splice_donor_variant,,ENST00000420246,;TP53,splice_donor_variant,,ENST00000445888,;TP53,splice_donor_variant,,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,splice_donor_variant,,ENST00000504290,;TP53,splice_donor_variant,,ENST00000504937,;TP53,splice_donor_variant,,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,splice_donor_variant,,ENST00000576024,;TP53,splice_donor_variant,,ENST00000610292,NM_001126118.1;TP53,splice_donor_variant,,ENST00000610538,;TP53,splice_donor_variant,,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,splice_donor_variant,,ENST00000617185,NM_001126114.2;TP53,splice_donor_variant,,ENST00000618944,;TP53,splice_donor_variant,,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,splice_donor_variant,,ENST00000619485,;TP53,splice_donor_variant,,ENST00000620739,;TP53,splice_donor_variant,,ENST00000622645,NM_001276696.1;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,splice_donor_variant,,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,; T ENSG00000141510 ENST00000269305 Transcript splice_donor_variant CD002536,TP53_g.14066G>A,COSM6918,COSM44295,COSM4271709,COSM4151771,COSM4151770,COSM3717623,COSM3717622,COSM323936,COSM2744450,COSM165065,COSM119022,COSM119021 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 9/10 0,0,1,1,1,1,1,1,1,1,1,1,1,1 HIGH 1 SNV 1 1,0,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS ACC . . 7673534 SLFN11 . GRCh38 chr17 35353041 35353041 + Missense_Mutation SNP C C T rs202123744 7316-195 BS_NWXG4ZNS C C c.2021G>A p.Arg674His p.R674H ENST00000394566 7/7 38 24 12 34 33 0 SLFN11,missense_variant,p.Arg674His,ENST00000394566,NM_001104588.1,NM_001104587.1,NM_001104590.1;SLFN11,missense_variant,p.Arg674His,ENST00000308377,NM_001104589.1,NM_152270.3;SLFN11,missense_variant,p.Arg31His,ENST00000592108,; T ENSG00000172716 ENST00000394566 Transcript missense_variant 2294/5030 2021/2706 674/901 R/H cGt/cAt rs202123744 1 -1 SLFN11 HGNC HGNC:26633 protein_coding YES CCDS11294.1 ENSP00000378067 Q7Z7L1 UPI0000140B0E NM_001104588.1,NM_001104587.1,NM_001104590.1 tolerated(0.06) possibly_damaging(0.728) 7/7 hmmpanther:PTHR12155:SF31,hmmpanther:PTHR12155,Gene3D:3.40.50.300,Pfam_domain:PF09848,Superfamily_domains:SSF52540 MODERATE 1 SNV 2 PASS ACG . . 5.685e-05 0.0002319 5.372e-05 0.0001299 35353041 KRT38 . GRCh38 chr17 41439232 41439232 + Nonsense_Mutation SNP G G A rs148768443 7316-195 BS_NWXG4ZNS G G c.703C>T p.Gln235Ter p.Q235* ENST00000246646 3/7 60 44 16 35 34 0 KRT38,stop_gained,p.Gln235Ter,ENST00000246646,NM_006771.3; A ENSG00000171360 ENST00000246646 Transcript stop_gained 703/2337 703/1371 235/456 Q/* Cag/Tag rs148768443,COSM162057 1 -1 KRT38 HGNC HGNC:6456 protein_coding YES CCDS11392.1 ENSP00000246646 O76015 UPI000013CBF9 NM_006771.3 3/7 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF239,Gene3D:1.20.5.340,Pfam_domain:PF00038,SMART_domains:SM01391 0,1 HIGH 1 SNV 1 0,1 PASS TGC . . 0.006026 0.0008809 0.001804 0.003489 0.0165 0.009579 0.006865 0.005146 0.003723 41439232 MADCAM1 . GRCh38 chr19 501695 501695 + Missense_Mutation SNP C C T rs77685069 7316-195 BS_NWXG4ZNS C C c.694C>T p.Pro232Ser p.P232S ENST00000215637 4/5 99 78 15 27 25 0 MADCAM1,missense_variant,p.Pro13Ser,ENST00000587541,;MADCAM1,missense_variant,p.Pro232Ser,ENST00000215637,NM_130760.2;MADCAM1,missense_variant,p.Pro256Ser,ENST00000613880,;MADCAM1,missense_variant,p.Pro250Ser,ENST00000617201,;MADCAM1,missense_variant,p.Pro248Ser,ENST00000619333,;MADCAM1,missense_variant,p.Pro240Ser,ENST00000622462,;MADCAM1,missense_variant,p.Pro250Ser,ENST00000621286,;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.1,intron_variant,,ENST00000592413,;MADCAM1,downstream_gene_variant,,ENST00000622449,;,regulatory_region_variant,,ENSR00000286952,; T ENSG00000099866 ENST00000215637 Transcript missense_variant 740/1572 694/1149 232/382 P/S Cct/Tct rs77685069,COSM5509617 1 1 MADCAM1 HGNC HGNC:6765 protein_coding YES CCDS12028.1 ENSP00000215637 Q13477 UPI000013C68F NM_130760.2 tolerated(0.06) benign(0.131) 4/5 hmmpanther:PTHR14162,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 1.361e-05 7.538e-05 7.11e-05 9.799e-06 501695 TSHZ2 . GRCh38 chr20 53254282 53254282 + Missense_Mutation SNP T T C novel 7316-195 BS_NWXG4ZNS T T c.824T>C p.Leu275Pro p.L275P ENST00000371497 2/3 82 68 14 32 31 0 TSHZ2,missense_variant,p.Leu275Pro,ENST00000371497,NM_173485.5;TSHZ2,missense_variant,p.Leu272Pro,ENST00000603338,NM_001193421.1;TSHZ2,missense_variant,p.Leu272Pro,ENST00000329613,;AL109930.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,; C ENSG00000182463 ENST00000371497 Transcript missense_variant 1711/12187 824/3105 275/1034 L/P cTg/cCg 1 1 TSHZ2 HGNC HGNC:13010 protein_coding YES CCDS33490.1 ENSP00000360552 Q9NRE2 UPI0000206747 NM_173485.5 deleterious(0) probably_damaging(0.999) 2/3 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF3,SMART_domains:SM00355 MODERATE 1 SNV 1 PASS CTG . . 53254282 RBM11 . GRCh38 chr21 14224451 14224451 + Missense_Mutation SNP T G G rs409782 7316-195 BS_NWXG4ZNS T T c.346T>G p.Leu116Val p.L116V ENST00000400577 4/5 42 8 34 21 18 3 RBM11,missense_variant,p.Leu116Val,ENST00000400577,NM_001320602.1,NM_144770.4;RBM11,non_coding_transcript_exon_variant,,ENST00000468643,;RBM11,non_coding_transcript_exon_variant,,ENST00000495055,;RBM11,non_coding_transcript_exon_variant,,ENST00000468788,;RBM11,non_coding_transcript_exon_variant,,ENST00000475864,;RBM11,downstream_gene_variant,,ENST00000461088,; G ENSG00000185272 ENST00000400577 Transcript missense_variant 355/1934 346/846 116/281 L/V Ttg/Gtg rs409782,COSM4419591 1 1 RBM11 HGNC HGNC:9897 protein_coding YES CCDS46635.1 ENSP00000383421 P57052 UPI0000133382 NM_001320602.1,NM_144770.4 tolerated(0.72) benign(0) 4/5 hmmpanther:PTHR13798:SF5,hmmpanther:PTHR13798 0.7558 0.7095 0.6988 0.7331 0.836 0.7996 0.7568 0.8164 0,1 MODERATE 1 SNV 1 0,1 PASS GTT . . 0.7904 0.7376 0.7187 0.8359 0.74 0.831 0.8143 0.7795 0.8019 14224451 TEX11 . GRCh38 chrX 70740803 70740804 + Splice_Region INS - - A rs780397454 7316-195 BS_NWXG4ZNS - - c.793-8dup ENST00000395889 45 32 8 23 17 0 TEX11,splice_region_variant,,ENST00000344304,;TEX11,splice_region_variant,,ENST00000374333,NM_031276.2;TEX11,splice_region_variant,,ENST00000395889,NM_001003811.1; A ENSG00000120498 ENST00000395889 Transcript splice_region_variant,intron_variant rs780397454,TMP_ESP_X_69960654_69960655 1 -1 TEX11 HGNC HGNC:11733 protein_coding YES CCDS35323.1 ENSP00000379226 Q8IYF3 UPI000013CA89 NM_001003811.1 11/30 0.03898 0.04708 LOW 1 insertion 2 1 PASS AGA . . 0.05947 0.05996 0.1023 0.08858 0.08766 0.02691 0.04766 0.08436 0.06532 70740803 PRAMEF33 . GRCh38 chr1 13308343 13308343 + Missense_Mutation SNP C C T rs200269882 7316-2140 BS_35M8GBJ4 C C c.881C>T p.Pro294Leu p.P294L ENST00000437300 4/4 63 47 15 25 25 0 PRAMEF33,missense_variant,p.Pro294Leu,ENST00000437300,NM_001291381.1; T ENSG00000237700 ENST00000437300 Transcript missense_variant 954/1518 881/1425 294/474 P/L cCc/cTc rs200269882 1 1 PRAMEF33 HGNC HGNC:49193 protein_coding YES ENSP00000492439 A0A0G2JMD5 UPI000442CEFE NM_001291381.1 deleterious(0) benign(0.052) 4/4 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF28,Superfamily_domains:SSF52047 0.0265 0.013 0.004 0.0149 0.0307 MODERATE 1 SNV 1 PASS CCC . . 13308343 FBLIM1 . GRCh38 chr1 15774995 15774995 + Nonsense_Mutation SNP G G A novel 7316-2140 BS_35M8GBJ4 G G c.1089G>A p.Trp363Ter p.W363* ENST00000441801 6/6 71 58 12 42 41 0 FBLIM1,stop_gained,p.Trp363Ter,ENST00000441801,NM_001024215.1;FBLIM1,intron_variant,,ENST00000332305,NM_001024216.1;FBLIM1,intron_variant,,ENST00000375766,NM_017556.2;FBLIM1,intron_variant,,ENST00000375771,NM_001350151.1;FBLIM1,downstream_gene_variant,,ENST00000502739,;FBLIM1,upstream_gene_variant,,ENST00000509138,;FBLIM1,upstream_gene_variant,,ENST00000514156,; A ENSG00000162458 ENST00000441801 Transcript stop_gained 1296/1543 1089/1125 363/374 W/* tgG/tgA 1 1 FBLIM1 HGNC HGNC:24686 protein_coding YES CCDS44064.1 ENSP00000416387 Q8WUP2 UPI0000520D52 NM_001024215.1 6/6 HIGH 1 SNV 1 PASS GGA . . 15774995 IL22RA1 . GRCh38 chr1 24138655 24138655 + Missense_Mutation SNP A A T novel 7316-2140 BS_35M8GBJ4 A A c.103T>A p.Phe35Ile p.F35I ENST00000270800 2/7 71 45 23 30 30 0 IL22RA1,missense_variant,p.Phe35Ile,ENST00000270800,NM_021258.3; T ENSG00000142677 ENST00000270800 Transcript missense_variant 142/2798 103/1725 35/574 F/I Ttt/Att 1 -1 IL22RA1 HGNC HGNC:13700 protein_coding YES CCDS247.1 ENSP00000270800 Q8N6P7 UPI0000071143 NM_021258.3 deleterious(0) probably_damaging(0.999) 2/7 PDB-ENSP_mappings:3dgc.R,PDB-ENSP_mappings:3dgc.S,PDB-ENSP_mappings:3dlq.R,PROSITE_profiles:PS50853,cd00063,hmmpanther:PTHR20859:SF20,hmmpanther:PTHR20859,Pfam_domain:PF01108,Gene3D:2.60.40.10,Superfamily_domains:SSF49265 MODERATE 1 SNV 1 PASS AAG . . 24138655 MAP3K6 . GRCh38 chr1 27361776 27361776 + Missense_Mutation SNP A A T novel 7316-2140 BS_35M8GBJ4 A A c.1507T>A p.Phe503Ile p.F503I ENST00000493901 11/30 76 37 39 58 57 0 MAP3K6,missense_variant,p.Phe495Ile,ENST00000374040,NM_001297609.1;MAP3K6,missense_variant,p.Phe503Ile,ENST00000493901,NM_004672.4;MAP3K6,missense_variant,p.Phe503Ile,ENST00000357582,;MAP3K6,missense_variant,p.Phe227Ile,ENST00000472410,;MAP3K6,upstream_gene_variant,,ENST00000470890,;MAP3K6,upstream_gene_variant,,ENST00000476509,;MAP3K6,upstream_gene_variant,,ENST00000495230,; T ENSG00000142733 ENST00000493901 Transcript missense_variant 1747/4309 1507/3867 503/1288 F/I Ttc/Atc 1 -1 MAP3K6 HGNC HGNC:6858 protein_coding YES CCDS299.1 ENSP00000419591 O95382 UPI0000205587 NM_004672.4 deleterious(0.01) probably_damaging(0.998) 11/30 Pfam_domain:PF13281,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF391 MODERATE 1 SNV 5 1 PASS AAG . . 27361776 BEND5 . GRCh38 chr1 48776816 48776816 + Missense_Mutation SNP G G A novel 7316-2140 BS_35M8GBJ4 G G c.16C>T p.Arg6Trp p.R6W ENST00000371833 1/6 62 55 5 40 38 0 BEND5,missense_variant,p.Arg6Trp,ENST00000371833,NM_001302082.1,NM_024603.3;AGBL4,intron_variant,,ENST00000371838,;AGBL4,intron_variant,,ENST00000371839,NM_001323573.1,NM_032785.3,NM_001323575.1,NM_001323574.1;AGBL4,intron_variant,,ENST00000416121,;BEND5,non_coding_transcript_exon_variant,,ENST00000480399,;BEND5,non_coding_transcript_exon_variant,,ENST00000463562,;BEND5,upstream_gene_variant,,ENST00000489956,;,regulatory_region_variant,,ENSR00000006157,; A ENSG00000162373 ENST00000371833 Transcript missense_variant 103/1716 16/1266 6/421 R/W Cgg/Tgg 1 -1 BEND5 HGNC HGNC:25668 protein_coding YES CCDS552.2 ENSP00000360899 Q7L4P6 A0A0S2Z5N0 UPI00002042F4 NM_001302082.1,NM_024603.3 deleterious_low_confidence(0) possibly_damaging(0.876) 1/6 hmmpanther:PTHR14628 MODERATE 1 SNV 1 PASS CGC . . 48776816 CCDC18 . GRCh38 chr1 93214875 93214875 + Missense_Mutation SNP A A T novel 7316-2140 BS_35M8GBJ4 A A c.1625A>T p.Lys542Met p.K542M ENST00000343253 12/29 72 67 5 52 52 0 CCDC18,missense_variant,p.Lys542Met,ENST00000343253,NM_001306076.1;CCDC18,missense_variant,p.Lys596Met,ENST00000370276,;CCDC18,missense_variant,p.Lys543Met,ENST00000401026,NM_206886.4;CCDC18,missense_variant,p.Lys262Met,ENST00000455267,;CCDC18,3_prime_UTR_variant,,ENST00000481180,; T ENSG00000122483 ENST00000343253 Transcript missense_variant 2127/4867 1625/4365 542/1454 K/M aAg/aTg 1 1 CCDC18 HGNC HGNC:30370 protein_coding YES CCDS76180.1 ENSP00000343377 Q5T9S5 UPI0000470B9C NM_001306076.1 deleterious(0) possibly_damaging(0.858) 12/29 Gene3D:1.20.5.50,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18875,hmmpanther:PTHR18875:SF8 MODERATE 1 SNV 5 PASS AAG . . 93214875 STRIP1 . GRCh38 chr1 110043157 110043157 + Missense_Mutation SNP C C G novel 7316-2140 BS_35M8GBJ4 C C c.955C>G p.Pro319Ala p.P319A ENST00000369795 9/21 81 40 39 54 52 0 STRIP1,missense_variant,p.Pro319Ala,ENST00000369795,NM_033088.3;STRIP1,missense_variant,p.Pro224Ala,ENST00000369796,NM_001270768.1;STRIP1,3_prime_UTR_variant,,ENST00000485775,;STRIP1,non_coding_transcript_exon_variant,,ENST00000473429,;STRIP1,non_coding_transcript_exon_variant,,ENST00000535003,;STRIP1,upstream_gene_variant,,ENST00000461054,;STRIP1,downstream_gene_variant,,ENST00000489059,;STRIP1,upstream_gene_variant,,ENST00000539541,;STRIP1,downstream_gene_variant,,ENST00000540970,; G ENSG00000143093 ENST00000369795 Transcript missense_variant 977/3265 955/2514 319/837 P/A Ccg/Gcg 1 1 STRIP1 HGNC HGNC:25916 protein_coding YES CCDS30798.1 ENSP00000358810 Q5VSL9 UPI0000160E65 NM_033088.3 tolerated(0.05) possibly_damaging(0.771) 9/21 Pfam_domain:PF07923,hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF5,SMART_domains:SM01292 MODERATE 1 SNV 1 PASS CCC . . 110043157 AC239859.1 . GRCh38 chr1 143542002 143542002 + Splice_Region SNP C C A novel 7316-2140 BS_35M8GBJ4 C C n.235C>A ENST00000449715 1/17 107 99 8 67 67 0 AC239859.1,splice_region_variant,,ENST00000449715,; A ENSG00000203825 ENST00000449715 Transcript splice_region_variant,non_coding_transcript_exon_variant 235/2594 1 1 AC239859.1 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/17 LOW 1 SNV PASS ACC . . 143542002 AC239859.1 . GRCh38 chr1 143542003 143542003 + Splice_Region SNP C C A novel 7316-2140 BS_35M8GBJ4 C C n.236C>A ENST00000449715 1/17 108 100 8 66 66 0 AC239859.1,splice_region_variant,,ENST00000449715,; A ENSG00000203825 ENST00000449715 Transcript splice_region_variant,non_coding_transcript_exon_variant 236/2594 1 1 AC239859.1 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/17 LOW 1 SNV PASS CCA . . 143542003 PIAS3 . GRCh38 chr1 145856934 145856934 + Missense_Mutation SNP G G A novel 7316-2140 BS_35M8GBJ4 G G c.97C>T p.Arg33Trp p.R33W ENST00000393045 2/14 79 42 33 46 45 0 PIAS3,missense_variant,p.Arg33Trp,ENST00000393045,NM_006099.3;PIAS3,missense_variant,p.Arg33Trp,ENST00000369298,;PIAS3,missense_variant,p.Arg24Trp,ENST00000393046,;PIAS3,missense_variant,p.Arg35Trp,ENST00000463514,;PIAS3,non_coding_transcript_exon_variant,,ENST00000369299,;PIAS3,non_coding_transcript_exon_variant,,ENST00000498436,;PIAS3,non_coding_transcript_exon_variant,,ENST00000484423,;PIAS3,upstream_gene_variant,,ENST00000475261,; A ENSG00000131788 ENST00000393045 Transcript missense_variant 187/2901 97/1887 33/628 R/W Cgg/Tgg 1 -1 PIAS3 HGNC HGNC:16861 protein_coding YES CCDS72866.1 ENSP00000376765 Q9Y6X2 UPI0000150636 NM_006099.3 deleterious(0) possibly_damaging(0.895) 2/14 PROSITE_profiles:PS50800,hmmpanther:PTHR10782:SF10,hmmpanther:PTHR10782,Gene3D:1.10.720.30,SMART_domains:SM00513,Superfamily_domains:SSF68906 MODERATE 1 SNV 1 PASS CGT . . 145856934 PLEKHH2 . GRCh38 chr2 43710313 43710313 + Missense_Mutation SNP C C G novel 7316-2140 BS_35M8GBJ4 C C c.2197C>G p.Leu733Val p.L733V ENST00000282406 13/30 57 31 24 43 42 1 PLEKHH2,missense_variant,p.Leu733Val,ENST00000282406,NM_172069.3;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,; G ENSG00000152527 ENST00000282406 Transcript missense_variant 2307/6981 2197/4482 733/1493 L/V Ctt/Gtt 1 1 PLEKHH2 HGNC HGNC:30506 protein_coding YES CCDS1812.1 ENSP00000282406 Q8IVE3 UPI000016021B NM_172069.3 deleterious(0.04) possibly_damaging(0.472) 13/30 PROSITE_profiles:PS50003,cd13282,hmmpanther:PTHR22903:SF3,hmmpanther:PTHR22903,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729 MODERATE 1 SNV 1 PASS ACT . . 43710313 IDH1 . GRCh38 chr2 208248388 208248388 + Missense_Mutation SNP C C A 7316-2140 BS_35M8GBJ4 C C c.395G>T p.Arg132Leu p.R132L ENST00000415913 4/10 34 16 18 41 41 0 IDH1,missense_variant,p.Arg132Leu,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132Leu,ENST00000345146,NM_005896.3;IDH1,missense_variant,p.Arg132Leu,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132Leu,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,; A ENSG00000138413 ENST00000415913 Transcript missense_variant 777/2441 395/1245 132/414 R/L cGt/cTt CM1310533,COSM28750,COSM28746 1 -1 IDH1 HGNC HGNC:5382 protein_coding YES CCDS2381.1 ENSP00000390265 O75874 V9HWJ2 UPI000012D1B4 NM_001282387.1 deleterious_low_confidence(0) benign(0.049) 4/10 PDB-ENSP_mappings:1t09.A,PDB-ENSP_mappings:1t09.B,PDB-ENSP_mappings:1t0l.A,PDB-ENSP_mappings:1t0l.B,PDB-ENSP_mappings:1t0l.C,PDB-ENSP_mappings:1t0l.D,Gene3D:3.40.718.10,PDB-ENSP_mappings:3inm.A,PDB-ENSP_mappings:3inm.B,PDB-ENSP_mappings:3inm.C,PDB-ENSP_mappings:3map.A,PDB-ENSP_mappings:3map.B,PDB-ENSP_mappings:3mar.A,PDB-ENSP_mappings:3mar.B,PDB-ENSP_mappings:3mas.A,PDB-ENSP_mappings:3mas.B,PDB-ENSP_mappings:4i3k.A,PDB-ENSP_mappings:4i3k.B,PDB-ENSP_mappings:4i3l.A,PDB-ENSP_mappings:4i3l.B,PDB-ENSP_mappings:4kzo.A,PDB-ENSP_mappings:4kzo.B,PDB-ENSP_mappings:4kzo.C,PDB-ENSP_mappings:4l03.A,PDB-ENSP_mappings:4l03.B,PDB-ENSP_mappings:4l03.C,PDB-ENSP_mappings:4l04.A,PDB-ENSP_mappings:4l04.B,PDB-ENSP_mappings:4l04.C,PDB-ENSP_mappings:4l04.D,PDB-ENSP_mappings:4l04.E,PDB-ENSP_mappings:4l04.F,PDB-ENSP_mappings:4l06.A,PDB-ENSP_mappings:4l06.B,PDB-ENSP_mappings:4l06.C,PDB-ENSP_mappings:4l06.D,PDB-ENSP_mappings:4l06.E,PDB-ENSP_mappings:4l06.F,PDB-ENSP_mappings:4umx.A,PDB-ENSP_mappings:4umx.B,PDB-ENSP_mappings:4umy.A,PDB-ENSP_mappings:4umy.B,PDB-ENSP_mappings:4xrx.A,PDB-ENSP_mappings:4xrx.B,PDB-ENSP_mappings:4xs3.A,PDB-ENSP_mappings:4xs3.B,PDB-ENSP_mappings:5de1.A,PDB-ENSP_mappings:5de1.B,PDB-ENSP_mappings:5gir.C,PDB-ENSP_mappings:5gir.D,PDB-ENSP_mappings:5k10.A,PDB-ENSP_mappings:5k10.B,PDB-ENSP_mappings:5k11.A,PDB-ENSP_mappings:5k11.B,PDB-ENSP_mappings:5l57.A,PDB-ENSP_mappings:5l58.A,PDB-ENSP_mappings:5lge.A,PDB-ENSP_mappings:5lge.B,PDB-ENSP_mappings:5lge.C,PDB-ENSP_mappings:5lge.D,PDB-ENSP_mappings:5sun.A,PDB-ENSP_mappings:5sun.B,PDB-ENSP_mappings:5svf.A,PDB-ENSP_mappings:5svf.B,PDB-ENSP_mappings:5svf.C,PDB-ENSP_mappings:5svf.D,PDB-ENSP_mappings:5tqh.A,PDB-ENSP_mappings:5tqh.B,PDB-ENSP_mappings:5tqh.C,PDB-ENSP_mappings:5tqh.D,PDB-ENSP_mappings:5yfm.A,PDB-ENSP_mappings:5yfm.B,PDB-ENSP_mappings:5yfm.C,PDB-ENSP_mappings:5yfn.A,PDB-ENSP_mappings:5yfn.B,PDB-ENSP_mappings:6b0z.A,PDB-ENSP_mappings:6b0z.B,PDB-ENSP_mappings:6b0z.C,PDB-ENSP_mappings:6b0z.D,Pfam_domain:PF00180,PIRSF_domain:PIRSF000108,hmmpanther:PTHR11822,hmmpanther:PTHR11822:SF21,SMART_domains:SM01329,Superfamily_domains:SSF53659,TIGRFAM_domain:TIGR00127 0,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS ACG . . 208248388 GADL1 . GRCh38 chr3 30833896 30833896 + Missense_Mutation SNP A A T novel 7316-2140 BS_35M8GBJ4 A A c.1007T>A p.Met336Lys p.M336K ENST00000282538 11/15 71 59 12 48 47 0 GADL1,missense_variant,p.Met336Lys,ENST00000454381,;GADL1,missense_variant,p.Met336Lys,ENST00000282538,NM_207359.2; T ENSG00000144644 ENST00000282538 Transcript missense_variant 1158/3759 1007/1566 336/521 M/K aTg/aAg 1 -1 GADL1 HGNC HGNC:27949 protein_coding YES CCDS2649.2 ENSP00000282538 Q6ZQY3 UPI000022BF90 NM_207359.2 tolerated(0.1) benign(0.266) 11/15 cd06450,hmmpanther:PTHR11999:SF95,hmmpanther:PTHR11999,PROSITE_patterns:PS00392,Gene3D:3.40.640.10,Pfam_domain:PF00282,Superfamily_domains:SSF53383 MODERATE 1 SNV 5 PASS CAT . . 30833896 GNAI2 . GRCh38 chr3 50256212 50256212 + Missense_Mutation SNP G G A novel 7316-2140 BS_35M8GBJ4 G G c.485G>A p.Arg162His p.R162H ENST00000313601 5/9 62 46 10 38 33 0 GNAI2,missense_variant,p.Arg162His,ENST00000313601,NM_002070.3;GNAI2,missense_variant,p.Arg146His,ENST00000422163,NM_001282619.1,NM_001282620.1;GNAI2,missense_variant,p.Arg110His,ENST00000266027,NM_001282618.1,NM_001282617.1;GNAI2,missense_variant,p.Arg110His,ENST00000440628,;GNAI2,missense_variant,p.Arg125His,ENST00000451956,NM_001166425.1;U73166.1,upstream_gene_variant,,ENST00000439898,;U73166.1,upstream_gene_variant,,ENST00000453717,;GNAI2,non_coding_transcript_exon_variant,,ENST00000491100,;GNAI2,3_prime_UTR_variant,,ENST00000441156,;GNAI2,3_prime_UTR_variant,,ENST00000446079,;GNAI2,non_coding_transcript_exon_variant,,ENST00000490122,;GNAI2,non_coding_transcript_exon_variant,,ENST00000468422,;GNAI2,upstream_gene_variant,,ENST00000492383,; A ENSG00000114353 ENST00000313601 Transcript missense_variant 869/2464 485/1068 162/355 R/H cGt/cAt 1 1 GNAI2 HGNC HGNC:4385 protein_coding YES CCDS2813.1 ENSP00000312999 P04899 UPI000000124B NM_002070.3 deleterious(0) probably_damaging(0.982) 5/9 cd00066,hmmpanther:PTHR10218:SF73,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF47895 MODERATE 1 SNV 1 1 PASS CGT . . 50256212 LINC00971 . GRCh38 chr3 84789640 84789640 + Splice_Region SNP G G T novel 7316-2140 BS_35M8GBJ4 G G n.1551C>A ENST00000484892 10/21 82 40 41 46 45 0 LINC00971,splice_region_variant,,ENST00000484892,; T ENSG00000242641 ENST00000484892 Transcript splice_region_variant,non_coding_transcript_exon_variant 1551/7308 1 -1 LINC00971 HGNC HGNC:48737 lincRNA YES 10/21 LOW 1 SNV 1 PASS TGA . . 84789640 MUC20 . GRCh38 chr3 195726002 195726002 + Missense_Mutation SNP G G A rs572650436 7316-2140 BS_35M8GBJ4 G G c.1399G>A p.Ala467Thr p.A467T ENST00000447234 2/4 83 71 12 45 42 0 MUC20,missense_variant,p.Ala432Thr,ENST00000445522,;MUC20,missense_variant,p.Ala467Thr,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Ala467Thr,ENST00000436408,;MUC20,missense_variant,p.Ala296Thr,ENST00000320736,;MUC20,upstream_gene_variant,,ENST00000423938,;MUC20-OT1,intron_variant,,ENST00000594446,;MUC20-OT1,intron_variant,,ENST00000595086,;MUC20-OT1,intron_variant,,ENST00000597662,;MUC20-OT1,intron_variant,,ENST00000600197,;MUC20-OT1,intron_variant,,ENST00000626093,;MUC20-OT1,intron_variant,,ENST00000627035,;MUC20-OT1,intron_variant,,ENST00000627297,;MUC20-OT1,intron_variant,,ENST00000627993,;MUC20-OT1,intron_variant,,ENST00000628125,;MUC20-OT1,intron_variant,,ENST00000628392,;MUC20-OT1,intron_variant,,ENST00000628982,;MUC20-OT1,intron_variant,,ENST00000629537,;MUC20-OT1,intron_variant,,ENST00000629721,;MUC20-OT1,intron_variant,,ENST00000629807,;MUC20-OT1,intron_variant,,ENST00000631359,;MUC20-OT1,downstream_gene_variant,,ENST00000432194,;MUC20-OT1,downstream_gene_variant,,ENST00000455807,;MUC20-OT1,downstream_gene_variant,,ENST00000594976,;MUC20-OT1,downstream_gene_variant,,ENST00000599566,;MUC20-OT1,downstream_gene_variant,,ENST00000600288,;MUC20-OT1,downstream_gene_variant,,ENST00000612098,;MUC20-OT1,downstream_gene_variant,,ENST00000625383,;MUC20-OT1,downstream_gene_variant,,ENST00000625531,;MUC20-OT1,downstream_gene_variant,,ENST00000625665,;MUC20-OT1,downstream_gene_variant,,ENST00000626566,;MUC20-OT1,downstream_gene_variant,,ENST00000626852,;MUC20-OT1,downstream_gene_variant,,ENST00000626872,;MUC20-OT1,downstream_gene_variant,,ENST00000626979,;MUC20-OT1,downstream_gene_variant,,ENST00000627471,;MUC20-OT1,downstream_gene_variant,,ENST00000627609,;MUC20-OT1,downstream_gene_variant,,ENST00000630197,;MUC20-OT1,downstream_gene_variant,,ENST00000630874,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,upstream_gene_variant,,ENST00000498018,; A ENSG00000176945 ENST00000447234 Transcript missense_variant 1525/2589 1399/2130 467/709 A/T Gca/Aca rs572650436,COSM4597003 1 1 MUC20 HGNC HGNC:23282 protein_coding YES CCDS63877.1 ENSP00000414350 Q8N307 UPI000198CC5A NM_001282506.1 tolerated(0.07) possibly_damaging(0.785) 2/4 mobidb-lite,hmmpanther:PTHR37358 0.0016 0.0008 0.0072 0,1 MODERATE 1 SNV 5 0,1 PASS AGC . . 0.0004804 0.0001319 0.0001514 0.000234 8.982e-05 3.607e-05 0.0005551 0.003244 195726002 ZDHHC19 . GRCh38 chr3 196209380 196209380 + Missense_Mutation SNP A A G novel 7316-2140 BS_35M8GBJ4 A A c.404T>C p.Val135Ala p.V135A ENST00000296326 3/8 70 61 7 32 32 0 ZDHHC19,missense_variant,p.Val135Ala,ENST00000296326,NM_001039617.1;SLC51A,upstream_gene_variant,,ENST00000416660,;PCYT1A,downstream_gene_variant,,ENST00000441879,;ZDHHC19,non_coding_transcript_exon_variant,,ENST00000488508,;ZDHHC19,missense_variant,p.Val135Ala,ENST00000438232,;ZDHHC19,missense_variant,p.Val135Ala,ENST00000397544,;ZDHHC19,non_coding_transcript_exon_variant,,ENST00000465519,; G ENSG00000163958 ENST00000296326 Transcript missense_variant 484/1306 404/930 135/309 V/A gTg/gCg 1 -1 ZDHHC19 HGNC HGNC:20713 protein_coding YES CCDS43190.1 ENSP00000296326 Q8WVZ1 UPI00006BFF56 NM_001039617.1 deleterious(0.01) probably_damaging(0.998) 3/8 Pfam_domain:PF01529,PROSITE_profiles:PS50216,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF107 MODERATE 1 SNV 5 PASS CAC . . 196209380 SHROOM3 . GRCh38 chr4 76740395 76740395 + Missense_Mutation SNP G G T novel 7316-2140 BS_35M8GBJ4 G G c.2222G>T p.Ser741Ile p.S741I ENST00000296043 5/11 70 63 6 55 52 0 SHROOM3,missense_variant,p.Ser741Ile,ENST00000296043,NM_020859.3;SHROOM3,missense_variant,p.Ser660Ile,ENST00000646790,;SHROOM3,intron_variant,,ENST00000469923,;SHROOM3,downstream_gene_variant,,ENST00000473602,;SHROOM3,downstream_gene_variant,,ENST00000481002,;SHROOM3,non_coding_transcript_exon_variant,,ENST00000486758,; T ENSG00000138771 ENST00000296043 Transcript missense_variant 3175/11020 2222/5991 741/1996 S/I aGt/aTt 1 1 SHROOM3 HGNC HGNC:30422 protein_coding YES CCDS3579.2 ENSP00000296043 Q8TF72 UPI0000E5AC1C NM_020859.3 deleterious(0.01) benign(0.009) 5/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012 MODERATE 1 SNV 1 1 PASS AGT . . 76740395 NAA11 . GRCh38 chr4 79325399 79325399 + Missense_Mutation SNP C C T rs868363838 7316-2140 BS_35M8GBJ4 C C c.479G>A p.Arg160Gln p.R160Q ENST00000286794 1/2 79 44 35 40 40 0 NAA11,missense_variant,p.Arg160Gln,ENST00000286794,NM_032693.2;NAA11,non_coding_transcript_exon_variant,,ENST00000513733,;NAA11,missense_variant,p.Arg42Gln,ENST00000511542,; T ENSG00000156269 ENST00000286794 Transcript missense_variant 652/2014 479/690 160/229 R/Q cGa/cAa rs868363838,COSM5401690 1 -1 NAA11 HGNC HGNC:28125 protein_coding YES CCDS47084.1 ENSP00000286794 Q9BSU3 UPI00000467CA NM_032693.2 tolerated(0.35) benign(0.006) 1/2 hmmpanther:PTHR23091:SF282,hmmpanther:PTHR23091 0,1 MODERATE 1 SNV 1 0,1 PASS TCG . . 79325399 FAM198B . GRCh38 chr4 158170335 158170337 + In_Frame_Del DEL GCT GCT - rs777512274 7316-2140 BS_35M8GBJ4 GCT GCT c.921_923del p.Ala308del p.A308del ENST00000393807 3/6 85 75 5 37 33 0 FAM198B,inframe_deletion,p.Ala308del,ENST00000393807,NM_001031700.2;FAM198B,inframe_deletion,p.Ser15del,ENST00000593260,;FAM198B,3_prime_UTR_variant,,ENST00000592057,;FAM198B,intron_variant,,ENST00000296530,NM_016613.6;FAM198B,intron_variant,,ENST00000585682,NM_001128424.1;FAM198B,downstream_gene_variant,,ENST00000587787,;FAM198B,upstream_gene_variant,,ENST00000592586,;FAM198B-AS1,upstream_gene_variant,,ENST00000503611,;FAM198B-AS1,upstream_gene_variant,,ENST00000505532,;FAM198B-AS1,upstream_gene_variant,,ENST00000509463,;FAM198B-AS1,upstream_gene_variant,,ENST00000514381,;FAM198B,intron_variant,,ENST00000589306,;,regulatory_region_variant,,ENSR00000312800,; - ENSG00000164125 ENST00000393807 Transcript inframe_deletion 1328-1330/4544 921-923/1584 307-308/527 AA/A gcAGCg/gcg rs777512274,COSM5018684 1 -1 FAM198B HGNC HGNC:25312 protein_coding YES CCDS34087.1 ENSP00000377396 Q6UWH4 UPI00003672A2 NM_001031700.2 3/6 Pfam_domain:PF15051,hmmpanther:PTHR15905,hmmpanther:PTHR15905:SF1,Low_complexity_(Seg):seg 0,1 MODERATE 1 deletion 1 0,1 PASS ACGCTG . . 7.865e-05 6.02e-05 5.87e-05 9.246e-05 7.319e-05 0.0001983 158170334 CUL7 . GRCh38 chr6 43051266 43051266 + Missense_Mutation SNP C C T rs201422720 7316-2140 BS_35M8GBJ4 C C c.1187G>A p.Arg396His p.R396H ENST00000535468 4/26 82 41 40 35 35 0 CUL7,missense_variant,p.Arg396His,ENST00000535468,NM_001168370.1;CUL7,missense_variant,p.Arg312His,ENST00000265348,NM_014780.4;MRPL2,downstream_gene_variant,,ENST00000230413,NM_001300848.1;MRPL2,downstream_gene_variant,,ENST00000388752,NM_015950.4;MRPL2,downstream_gene_variant,,ENST00000489623,;CUL7,upstream_gene_variant,,ENST00000478630,;KLC4,intron_variant,,ENST00000467906,;MRPL2,downstream_gene_variant,,ENST00000470667,;MRPL2,downstream_gene_variant,,ENST00000480286,;MRPL2,downstream_gene_variant,,ENST00000485654,;MRPL2,downstream_gene_variant,,ENST00000491898,; T ENSG00000044090 ENST00000535468 Transcript missense_variant 1274/5504 1187/5349 396/1782 R/H cGc/cAc rs201422720 1 -1 CUL7 HGNC HGNC:21024 protein_coding YES CCDS55003.1 ENSP00000438788 Q14999 UPI0001BE8116 NM_001168370.1 deleterious(0.02) possibly_damaging(0.754) 4/26 Gene3D:1.25.10.10,hmmpanther:PTHR22771,hmmpanther:PTHR22771:SF3 0.0001163 uncertain_significance MODERATE SNV 2 1 PASS GCG . . 8.15e-05 7.199e-05 0.0003904 43051266 GPRC6A . GRCh38 chr6 116793221 116793221 + Nonsense_Mutation SNP T T A novel 7316-2140 BS_35M8GBJ4 T T c.1702A>T p.Lys568Ter p.K568* ENST00000310357 6/6 68 21 46 34 33 0 GPRC6A,stop_gained,p.Lys568Ter,ENST00000310357,NM_148963.3;GPRC6A,stop_gained,p.Lys497Ter,ENST00000368549,NM_001286355.1;GPRC6A,stop_gained,p.Lys393Ter,ENST00000530250,NM_001286354.1; A ENSG00000173612 ENST00000310357 Transcript stop_gained 1724/2860 1702/2781 568/926 K/* Aaa/Taa 1 -1 GPRC6A HGNC HGNC:18510 protein_coding YES CCDS5112.1 ENSP00000309493 Q5T6X5 UPI000013EFF9 NM_148963.3 6/6 Pfam_domain:PF07562,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5 HIGH 1 SNV 1 PASS TTG . . 116793221 GCK . GRCh38 chr7 44152333 44152333 + Missense_Mutation SNP C C T rs762922697 7316-2140 BS_35M8GBJ4 C C c.304G>A p.Val102Met p.V102M ENST00000345378 3/10 65 26 38 40 40 0 GCK,missense_variant,p.Val101Met,ENST00000403799,NM_000162.3;GCK,missense_variant,p.Val100Met,ENST00000395796,NM_033508.1;GCK,missense_variant,p.Val102Met,ENST00000345378,NM_033507.1;GCK,missense_variant,p.Val100Met,ENST00000616242,;GCK,missense_variant,p.Val101Met,ENST00000437084,;GCK,downstream_gene_variant,,ENST00000476008,; T ENSG00000106633 ENST00000345378 Transcript missense_variant 466/2421 304/1401 102/466 V/M Gtg/Atg rs762922697,CM032905,COSM5872738,COSM5872737,COSM5872736 1 -1 GCK HGNC HGNC:4195 protein_coding YES CCDS5480.1 ENSP00000223366 P35557 UPI000002AB76 NM_033507.1 deleterious(0) benign(0.095) 3/10 Gene3D:3.30.420.40,Pfam_domain:PF00349,PROSITE_profiles:PS51748,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF3,Superfamily_domains:SSF53067,cd00012 0,0,1,1,1 MODERATE 1 SNV 2 0,1,1,1,1 1 PASS ACG . . 0.0001056 0.0006849 5.798e-05 1.79e-05 44152333 TMEM130 . GRCh38 chr7 98856187 98856187 + Splice_Region SNP T T C novel 7316-2140 BS_35M8GBJ4 T T c.552-4A>G ENST00000416379 77 72 5 36 34 0 TMEM130,splice_region_variant,,ENST00000339375,NM_152913.2;TMEM130,splice_region_variant,,ENST00000345589,NM_001134451.1;TMEM130,splice_region_variant,,ENST00000416379,NM_001134450.1;TMEM130,splice_region_variant,,ENST00000450876,;TMEM130,splice_region_variant,,ENST00000461092,;TMEM130,downstream_gene_variant,,ENST00000486839,;,regulatory_region_variant,,ENSR00000215583,; C ENSG00000166448 ENST00000416379 Transcript splice_region_variant,intron_variant 1 -1 TMEM130 HGNC HGNC:25429 protein_coding YES CCDS47650.1 ENSP00000413163 Q8N3G9 UPI000006EF2E NM_001134450.1 3/7 LOW 1 SNV 1 PASS GTT . . 98856187 STRA8 . GRCh38 chr7 135243379 135243379 + Nonsense_Mutation SNP G G T novel 7316-2140 BS_35M8GBJ4 G G c.388G>T p.Glu130Ter p.E130* ENST00000275764 4/9 66 54 10 56 55 0 STRA8,stop_gained,p.Glu130Ter,ENST00000275764,NM_182489.1;AC009542.2,downstream_gene_variant,,ENST00000637483,; T ENSG00000146857 ENST00000275764 Transcript stop_gained 388/993 388/993 130/330 E/* Gaa/Taa 1 1 STRA8 HGNC HGNC:30653 protein_coding YES CCDS5839.1 ENSP00000275764 Q7Z7C7 UPI00001A36D9 NM_182489.1 4/9 hmmpanther:PTHR35254 HIGH 1 SNV 1 PASS AGA . . 135243379 EPHA1 . GRCh38 chr7 143407685 143407685 + Splice_Region SNP G G T rs1284134431 7316-2140 BS_35M8GBJ4 G G c.83-7C>A ENST00000275815 75 42 29 44 42 0 EPHA1,splice_region_variant,,ENST00000275815,NM_005232.4;EPHA1-AS1,upstream_gene_variant,,ENST00000421648,;EPHA1-AS1,upstream_gene_variant,,ENST00000429289,;EPHA1,splice_region_variant,,ENST00000488068,;EPHA1,upstream_gene_variant,,ENST00000497891,; T ENSG00000146904 ENST00000275815 Transcript splice_region_variant,intron_variant rs1284134431 1 -1 EPHA1 HGNC HGNC:3385 protein_coding YES CCDS5884.1 ENSP00000275815 P21709 UPI000013DA82 NM_005232.4 1/17 LOW 1 SNV 1 PASS AGT . . 4.083e-06 3.278e-05 143407685 SSPO . GRCh38 chr7 149814924 149814924 + Missense_Mutation SNP A A G novel 7316-2140 BS_35M8GBJ4 A A c.10565A>G p.Glu3522Gly p.E3522G ENST00000378016 73/107 68 38 30 36 36 0 SSPO,missense_variant,p.Glu3522Gly,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,downstream_gene_variant,,ENST00000481772,; G ENSG00000197558 ENST00000378016 Transcript missense_variant 10565/15589 10565/15453 3522/5150 E/G gAa/gGa 1 1 SSPO HGNC HGNC:21998 protein_coding YES ENSP00000485256 A2VEC9 UPI000514C5D0 NM_198455.2 tolerated(0.1) benign(0) 73/107 Gene3D:2.10.25.10,Pfam_domain:PF00090,SMART_domains:SM00209,PROSITE_profiles:PS50092,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF358 MODERATE 1 SNV 5 PASS GAA . . 149814924 FAM91A1 . GRCh38 chr8 123778742 123778745 + Frame_Shift_Del DEL GGCT GGCT - novel 7316-2140 BS_35M8GBJ4 GGCT GGCT c.523_526del p.Gly175IlefsTer32 p.G175Ifs*32 ENST00000334705 6/24 71 37 33 63 63 0 FAM91A1,frameshift_variant,p.Gly175IlefsTer32,ENST00000334705,NM_001317917.1,NM_144963.3;FAM91A1,frameshift_variant,p.Gly175IlefsTer32,ENST00000521166,NM_001317918.1;FAM91A1,frameshift_variant,p.Gly175IlefsTer32,ENST00000519721,;FAM91A1,upstream_gene_variant,,ENST00000517912,;FAM91A1,upstream_gene_variant,,ENST00000521704,; - ENSG00000176853 ENST00000334705 Transcript frameshift_variant 765-768/5511 519-522/2517 173-174/838 QA/X caGGCT/ca 1 1 FAM91A1 HGNC HGNC:26306 protein_coding YES CCDS6346.2 ENSP00000335082 Q658Y4 UPI0000E5AF4E NM_001317917.1,NM_144963.3 6/24 hmmpanther:PTHR28441,hmmpanther:PTHR28441:SF2,Pfam_domain:PF14647 HIGH 1 deletion 1 4 PASS CAGGCTG . . 123778741 SVEP1 . GRCh38 chr9 110503082 110503082 + Missense_Mutation SNP C C A novel 7316-2140 BS_35M8GBJ4 C C c.1439G>T p.Cys480Phe p.C480F ENST00000374469 6/48 55 33 21 50 49 0 SVEP1,missense_variant,p.Cys480Phe,ENST00000401783,;SVEP1,missense_variant,p.Cys480Phe,ENST00000374469,NM_153366.3;SVEP1,missense_variant,p.Cys480Phe,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,; A ENSG00000165124 ENST00000374469 Transcript missense_variant 1634/12194 1439/10716 480/3571 C/F tGt/tTt 1 -1 SVEP1 HGNC HGNC:15985 protein_coding YES CCDS48004.1 ENSP00000363593 Q4LDE5 UPI000153DA74 NM_153366.3 deleterious(0) probably_damaging(0.999) 6/48 Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535,cd00033 MODERATE 1 SNV 5 PASS ACA . . 110503082 PITRM1 . GRCh38 chr10 3138043 3138043 + Missense_Mutation SNP C G G rs746834292 7316-2140 BS_35M8GBJ4 C C c.3105G>C p.Trp1035Cys p.W1035C ENST00000380989 27/27 1819 138 1603 35 35 0 PITRM1,missense_variant,p.Trp1035Cys,ENST00000380989,NM_001242307.1,NM_001347728.1;PITRM1,missense_variant,p.Trp1034Cys,ENST00000224949,NM_014889.3;PITRM1,missense_variant,p.Trp936Cys,ENST00000451104,NM_001242309.1,NM_001347725.1;PITRM1,missense_variant,p.Trp592Cys,ENST00000380994,;PFKP,downstream_gene_variant,,ENST00000381072,;PFKP,downstream_gene_variant,,ENST00000381075,NM_001242339.1;PFKP,downstream_gene_variant,,ENST00000381125,NM_001323073.1,NM_001323074.1,NM_001323070.1,NM_001323072.1,NM_001323067.1,NM_001323068.1,NM_002627.4,NM_001323069.1,NM_001323071.1,NM_001345944.1;PFKP,downstream_gene_variant,,ENST00000433193,;PITRM1,downstream_gene_variant,,ENST00000451454,;PITRM1,downstream_gene_variant,,ENST00000455371,;AL451164.3,intron_variant,,ENST00000441377,;PITRM1-AS1,upstream_gene_variant,,ENST00000430356,;PITRM1-AS1,upstream_gene_variant,,ENST00000598280,;PITRM1-AS1,upstream_gene_variant,,ENST00000601046,;PITRM1,non_coding_transcript_exon_variant,,ENST00000464395,;PITRM1,non_coding_transcript_exon_variant,,ENST00000490510,; G ENSG00000107959 ENST00000380989 Transcript missense_variant 3174/3487 3105/3117 1035/1038 W/C tgG/tgC rs746834292 1 -1 PITRM1 HGNC HGNC:17663 protein_coding YES CCDS55699.1 ENSP00000370377 Q5JRX3 UPI00015E00B2 NM_001242307.1,NM_001347728.1 deleterious(0) probably_damaging(1) 27/27 Gene3D:3.30.830.10,hmmpanther:PTHR43016,hmmpanther:PTHR43016:SF3 MODERATE 1 SNV 1 PASS TCC . . 3138043 LINC02561 . GRCh38 chr10 5271200 5271200 + Splice_Region SNP G G C novel 7316-2140 BS_35M8GBJ4 G G n.37C>G ENST00000449457 1/2 122 113 9 39 39 0 LINC02561,splice_region_variant,,ENST00000449457,;AKR1C7P,downstream_gene_variant,,ENST00000432689,;AKR1C7P,downstream_gene_variant,,ENST00000305623,; C ENSG00000224034 ENST00000449457 Transcript splice_region_variant,non_coding_transcript_exon_variant 37/692 1 -1 LINC02561 HGNC HGNC:53601 lincRNA YES 1/2 LOW 1 SNV 3 PASS TGT . . 5271200 AGAP4 . GRCh38 chr10 45847137 45847137 + Frame_Shift_Del DEL C C - rs1333205919 7316-2140 BS_35M8GBJ4 C C c.211del p.Glu71ArgfsTer29 p.E71Rfs*29 ENST00000448048 1/7 80 69 5 24 23 0 AGAP4,frameshift_variant,p.Glu71ArgfsTer52,ENST00000616763,;AGAP4,frameshift_variant,p.Glu71ArgfsTer29,ENST00000311652,;AGAP4,frameshift_variant,p.Glu71ArgfsTer29,ENST00000448048,NM_133446.3;AGAP4,frameshift_variant,p.Glu71ArgfsTer52,ENST00000618171,NM_001276343.2,NM_001291379.1;AGAP4,frameshift_variant,p.Glu31ArgfsTer52,ENST00000492347,;AGAP4,non_coding_transcript_exon_variant,,ENST00000430779,;AGAP4,non_coding_transcript_exon_variant,,ENST00000490752,;AGAP4,upstream_gene_variant,,ENST00000495243,; - ENSG00000188234 ENST00000448048 Transcript frameshift_variant 337/2439 211/1992 71/663 E/X Gag/ag rs1333205919 1 -1 AGAP4 HGNC HGNC:23459 protein_coding YES CCDS7215.1 ENSP00000392513 Q96P64 UPI000013ED67 NM_133446.3 1/7 hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF383 HIGH 1 deletion 1 PASS CTCC . . 45847136 TACC2 . GRCh38 chr10 122085222 122085222 + Missense_Mutation SNP G G T 7316-2140 BS_35M8GBJ4 G G c.2722G>T p.Gly908Cys p.G908C ENST00000369005 4/23 34 15 19 34 33 0 TACC2,missense_variant,p.Gly908Cys,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Gly908Cys,ENST00000334433,;TACC2,missense_variant,p.Gly908Cys,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Gly908Cys,ENST00000453444,;TACC2,missense_variant,p.Gly908Cys,ENST00000515603,NM_001291876.1;TACC2,intron_variant,,ENST00000358010,;TACC2,intron_variant,,ENST00000513429,NM_206861.2;TACC2,downstream_gene_variant,,ENST00000491540,; T ENSG00000138162 ENST00000369005 Transcript missense_variant 3062/9673 2722/8847 908/2948 G/C Ggc/Tgc COSM3434868,COSM3434867 1 1 TACC2 HGNC HGNC:11523 protein_coding YES CCDS7626.1 ENSP00000358001 O95359 UPI0000246F6B NM_206862.3 deleterious(0) benign(0.039) 4/23 mobidb-lite,hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11 1,1 MODERATE 1 SNV 1 1,1 PASS AGG . . 122085222 DNAJB13 . GRCh38 chr11 73969292 73969292 + Missense_Mutation SNP T T G novel 7316-2140 BS_35M8GBJ4 T T c.767T>G p.Leu256Arg p.L256R ENST00000339764 7/8 83 77 5 35 34 0 DNAJB13,missense_variant,p.Leu256Arg,ENST00000339764,NM_153614.3;DNAJB13,missense_variant,p.Leu81Arg,ENST00000543947,;DNAJB13,missense_variant,p.Leu81Arg,ENST00000537753,;DNAJB13,missense_variant,p.Leu157Arg,ENST00000542350,;AP003717.1,non_coding_transcript_exon_variant,,ENST00000537019,;AP003717.1,upstream_gene_variant,,ENST00000540886,; G ENSG00000187726 ENST00000339764 Transcript missense_variant 1518/1875 767/951 256/316 L/R cTg/cGg 1 1 DNAJB13 HGNC HGNC:30718 protein_coding YES CCDS8227.1 ENSP00000344431 P59910 UPI00001BFAF7 NM_153614.3 tolerated(0.15) benign(0.285) 7/8 cd10747,Gene3D:2.60.260.20,Pfam_domain:PF01556,Superfamily_domains:SSF49493,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF213 MODERATE 1 SNV 1 1 PASS CTG . . 73969292 DERA . GRCh38 chr12 16032596 16032596 + Missense_Mutation SNP C C T rs762184372 7316-2140 BS_35M8GBJ4 C C c.692C>T p.Pro231Leu p.P231L ENST00000428559 7/9 109 94 15 31 29 0 DERA,missense_variant,p.Pro231Leu,ENST00000428559,NM_015954.3;DERA,missense_variant,p.Pro143Leu,ENST00000526530,;DERA,missense_variant,p.Pro188Leu,ENST00000532964,NM_001300779.1;DERA,missense_variant,p.Pro143Leu,ENST00000533447,;DERA,downstream_gene_variant,,ENST00000531803,;DERA,non_coding_transcript_exon_variant,,ENST00000532573,;DERA,3_prime_UTR_variant,,ENST00000528821,;DERA,3_prime_UTR_variant,,ENST00000526521,;DERA,non_coding_transcript_exon_variant,,ENST00000530274,; T ENSG00000023697 ENST00000428559 Transcript missense_variant 904/1705 692/957 231/318 P/L cCg/cTg rs762184372 1 1 DERA HGNC HGNC:24269 protein_coding YES CCDS44838.1 ENSP00000416583 Q9Y315 UPI00001291A2 NM_015954.3 deleterious(0.02) probably_damaging(1) 7/9 Gene3D:3.20.20.70,Pfam_domain:PF01791,PIRSF_domain:PIRSF001357,hmmpanther:PTHR10889,hmmpanther:PTHR10889:SF3,SMART_domains:SM01133,Superfamily_domains:SSF51569,TIGRFAM_domain:TIGR00126,cd00959 MODERATE 1 SNV 1 PASS CCG . . 4.482e-05 0.0001604 0.0002302 0.0001712 16032596 LIMA1 . GRCh38 chr12 50177605 50177605 + Missense_Mutation SNP C C A 7316-2140 BS_35M8GBJ4 C C c.1742G>T p.Arg581Leu p.R581L ENST00000394943 11/11 270 84 183 45 45 0 LIMA1,missense_variant,p.Arg278Leu,ENST00000547825,NM_001243775.1;LIMA1,missense_variant,p.Arg580Leu,ENST00000341247,NM_016357.4;LIMA1,missense_variant,p.Arg581Leu,ENST00000394943,NM_001113546.1;LIMA1,missense_variant,p.Arg421Leu,ENST00000552783,NM_001113547.1;LIMA1,missense_variant,p.Arg420Leu,ENST00000552823,;LIMA1,missense_variant,p.Arg277Leu,ENST00000552491,;LIMA1,missense_variant,p.Arg419Leu,ENST00000552909,;LIMA1,downstream_gene_variant,,ENST00000552338,;LIMA1,3_prime_UTR_variant,,ENST00000552720,;LIMA1,downstream_gene_variant,,ENST00000549064,; A ENSG00000050405 ENST00000394943 Transcript missense_variant 1852/3669 1742/2283 581/760 R/L cGa/cTa COSM338482 1 -1 LIMA1 HGNC HGNC:24636 protein_coding YES CCDS44877.1 ENSP00000378400 Q9UHB6 UPI0000EE6469 NM_001113546.1 deleterious(0) probably_damaging(0.999) 11/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24206,hmmpanther:PTHR24206:SF50 1 MODERATE 1 SNV 1 1 PASS TCG . . 50177605 MARCH9 . GRCh38 chr12 57758711 57758711 + Missense_Mutation SNP G G T novel 7316-2140 BS_35M8GBJ4 G G c.855G>T p.Arg285Ser p.R285S ENST00000266643 4/4 79 70 8 28 28 0 MARCH9,missense_variant,p.Arg285Ser,ENST00000266643,NM_138396.5;MARCH9,missense_variant,p.Arg172Ser,ENST00000548358,;CYP27B1,downstream_gene_variant,,ENST00000228606,NM_000785.3;CDK4,upstream_gene_variant,,ENST00000552862,;CYP27B1,downstream_gene_variant,,ENST00000547344,;MARCH9,downstream_gene_variant,,ENST00000552279,; T ENSG00000139266 ENST00000266643 Transcript missense_variant 1286/2982 855/1041 285/346 R/S agG/agT 1 1 MARCH9 HGNC HGNC:25139 protein_coding YES CCDS31847.1 ENSP00000266643 Q86YJ5 UPI00001BDAFE NM_138396.5 tolerated(0.21) benign(0.374) 4/4 mobidb-lite,hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF52 MODERATE 1 SNV 1 PASS GGA . . 57758711 AC083805.1 . GRCh38 chr12 57872979 57872980 + Splice_Region INS - - A rs552446751 7316-2140 BS_35M8GBJ4 - - n.2744-4dup ENST00000499481 68 32 31 45 41 2 AC083805.1,splice_region_variant,,ENST00000499481,; A ENSG00000245651 ENST00000499481 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs552446751 1 -1 AC083805.1 Clone_based_ensembl_gene lincRNA YES 1/3 0.0042 0.0053 0.0029 0.0089 0.002 0.001 LOW 1 insertion 1 PASS TGA . . 57872979 RNF17 . GRCh38 chr13 24793148 24793148 + Missense_Mutation SNP G G T novel 7316-2140 BS_35M8GBJ4 G G c.1042G>T p.Val348Phe p.V348F ENST00000255324 10/36 60 21 39 32 31 0 RNF17,missense_variant,p.Val348Phe,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Val348Phe,ENST00000255325,;RNF17,non_coding_transcript_exon_variant,,ENST00000255326,; T ENSG00000132972 ENST00000255324 Transcript missense_variant 1094/5119 1042/4872 348/1623 V/F Gtt/Ttt 1 1 RNF17 HGNC HGNC:10060 protein_coding YES CCDS9308.2 ENSP00000255324 Q9BXT8 UPI00001FC8BA NM_031277.2,NM_001184993.1 tolerated(0.44) benign(0) 10/36 MODERATE 1 SNV 2 PASS GGT . . 24793148 WDR89 . GRCh38 chr14 63599584 63599584 + Missense_Mutation SNP C C T rs1049802936 7316-2140 BS_35M8GBJ4 C C c.359G>A p.Ser120Asn p.S120N ENST00000394942 2/2 43 37 5 44 44 0 WDR89,missense_variant,p.Ser120Asn,ENST00000394942,NM_080666.3;WDR89,missense_variant,p.Ser120Asn,ENST00000620954,;WDR89,missense_variant,p.Ser120Asn,ENST00000267522,NM_001008726.2,NM_001258272.1;WDR89,missense_variant,p.Ser120Asn,ENST00000554717,;AL136038.2,downstream_gene_variant,,ENST00000553983,;HSPE1P2,upstream_gene_variant,,ENST00000554777,;AL136038.4,upstream_gene_variant,,ENST00000603606,; T ENSG00000140006 ENST00000394942 Transcript missense_variant 448/2993 359/1164 120/387 S/N aGt/aAt rs1049802936 1 -1 WDR89 HGNC HGNC:20489 protein_coding YES CCDS9759.1 ENSP00000378399 Q96FK6 A0A024R667 UPI000000CBD9 NM_080666.3 deleterious(0) probably_damaging(0.982) 2/2 Gene3D:2.130.10.10,hmmpanther:PTHR22889,Superfamily_domains:SSF50978 MODERATE SNV 5 PASS ACT . . 63599584 WDR89 . GRCh38 chr14 63599585 63599585 + Missense_Mutation SNP T T G rs889833191 7316-2140 BS_35M8GBJ4 T T c.358A>C p.Ser120Arg p.S120R ENST00000394942 2/2 43 38 5 44 44 0 WDR89,missense_variant,p.Ser120Arg,ENST00000394942,NM_080666.3;WDR89,missense_variant,p.Ser120Arg,ENST00000620954,;WDR89,missense_variant,p.Ser120Arg,ENST00000267522,NM_001008726.2,NM_001258272.1;WDR89,missense_variant,p.Ser120Arg,ENST00000554717,;AL136038.2,downstream_gene_variant,,ENST00000553983,;HSPE1P2,upstream_gene_variant,,ENST00000554777,;AL136038.4,upstream_gene_variant,,ENST00000603606,; G ENSG00000140006 ENST00000394942 Transcript missense_variant 447/2993 358/1164 120/387 S/R Agt/Cgt rs889833191 1 -1 WDR89 HGNC HGNC:20489 protein_coding YES CCDS9759.1 ENSP00000378399 Q96FK6 A0A024R667 UPI000000CBD9 NM_080666.3 deleterious(0) probably_damaging(0.982) 2/2 Gene3D:2.130.10.10,hmmpanther:PTHR22889,Superfamily_domains:SSF50978 MODERATE SNV 5 PASS CTG . . 63599585 WDR89 . GRCh38 chr14 63599608 63599608 + Missense_Mutation SNP C C T rs201238690 7316-2140 BS_35M8GBJ4 C C c.335G>A p.Gly112Asp p.G112D ENST00000394942 2/2 52 43 7 40 40 0 WDR89,missense_variant,p.Gly112Asp,ENST00000394942,NM_080666.3;WDR89,missense_variant,p.Gly112Asp,ENST00000620954,;WDR89,missense_variant,p.Gly112Asp,ENST00000267522,NM_001008726.2,NM_001258272.1;WDR89,missense_variant,p.Gly112Asp,ENST00000554717,;AL136038.2,downstream_gene_variant,,ENST00000553983,;HSPE1P2,upstream_gene_variant,,ENST00000554777,;AL136038.4,upstream_gene_variant,,ENST00000603606,; T ENSG00000140006 ENST00000394942 Transcript missense_variant 424/2993 335/1164 112/387 G/D gGt/gAt rs201238690 1 -1 WDR89 HGNC HGNC:20489 protein_coding YES CCDS9759.1 ENSP00000378399 Q96FK6 A0A024R667 UPI000000CBD9 NM_080666.3 deleterious(0) probably_damaging(0.96) 2/2 Gene3D:2.130.10.10,hmmpanther:PTHR22889,Superfamily_domains:SSF50978 MODERATE SNV 5 PASS ACC . . 4.066e-06 8.967e-06 63599608 NEK9 . GRCh38 chr14 75124231 75124231 + Splice_Region SNP C C A rs758633193 7316-2140 BS_35M8GBJ4 C C c.220-8G>T ENST00000238616 35 26 9 53 53 0 NEK9,splice_region_variant,,ENST00000238616,NM_033116.4;NEK9,splice_region_variant,,ENST00000553823,;NEK9,splice_region_variant,,ENST00000557673,;AL049780.2,upstream_gene_variant,,ENST00000556236,;NEK9,splice_region_variant,,ENST00000553945,;NEK9,splice_region_variant,,ENST00000556170,;NEK9,intron_variant,,ENST00000554258,;NEK9,upstream_gene_variant,,ENST00000555961,; A ENSG00000119638 ENST00000238616 Transcript splice_region_variant,intron_variant rs758633193 1 -1 NEK9 HGNC HGNC:18591 protein_coding YES CCDS9839.1 ENSP00000238616 Q8TD19 UPI00001FD89B NM_033116.4 1/21 LOW 1 SNV 1 1 PASS ACA . . 4.078e-06 9.014e-06 75124231 MYO5C . GRCh38 chr15 52237653 52237653 + Splice_Region SNP A A G novel 7316-2140 BS_35M8GBJ4 A A c.2704-7T>C ENST00000261839 84 74 7 36 35 0 MYO5C,splice_region_variant,,ENST00000261839,NM_018728.3;MYO5C,splice_region_variant,,ENST00000558902,;MYO5C,splice_region_variant,,ENST00000559434,;MYO5C,splice_region_variant,,ENST00000560809,; G ENSG00000128833 ENST00000261839 Transcript splice_region_variant,intron_variant 1 -1 MYO5C HGNC HGNC:7604 protein_coding YES CCDS42036.1 ENSP00000261839 Q9NQX4 UPI000013D20E NM_018728.3 21/40 LOW 1 SNV 1 PASS GAA . . 52237653 ADCY9 . GRCh38 chr16 3966325 3966325 + Missense_Mutation SNP G G A novel 7316-2140 BS_35M8GBJ4 G G c.3512C>T p.Pro1171Leu p.P1171L ENST00000294016 11/11 99 41 58 46 46 0 ADCY9,missense_variant,p.Pro1171Leu,ENST00000294016,NM_001116.3;ADCY9,intron_variant,,ENST00000576936,; A ENSG00000162104 ENST00000294016 Transcript missense_variant 4051/7725 3512/4062 1171/1353 P/L cCc/cTc 1 -1 ADCY9 HGNC HGNC:240 protein_coding YES CCDS32382.1 ENSP00000294016 O60503 UPI000012887F NM_001116.3 deleterious(0) probably_damaging(1) 11/11 PROSITE_profiles:PS50125,cd07302,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF353,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073 MODERATE 1 SNV 1 PASS GGG . . 3966325 CLEC18C . GRCh38 chr16 70177467 70177467 + Missense_Mutation SNP C C G rs3869428 7316-2140 BS_35M8GBJ4 C C c.443C>G p.Thr148Ser p.T148S ENST00000618957 4/13 55 47 8 45 45 0 CLEC18C,missense_variant,p.Thr148Ser,ENST00000618957,;CLEC18C,missense_variant,p.Thr148Ser,ENST00000569347,NM_173619.3;CLEC18C,missense_variant,p.Thr148Ser,ENST00000541793,;CLEC18C,missense_variant,p.Thr148Ser,ENST00000314151,;CLEC18C,missense_variant,p.Thr148Ser,ENST00000536907,;CLEC18C,intron_variant,,ENST00000562923,;CLEC18C,downstream_gene_variant,,ENST00000565806,;AC009060.1,upstream_gene_variant,,ENST00000502126,;AC009060.1,upstream_gene_variant,,ENST00000566989,;CLEC18C,intron_variant,,ENST00000561612,;CLEC18C,non_coding_transcript_exon_variant,,ENST00000569201,;CLEC18C,non_coding_transcript_exon_variant,,ENST00000564976,;CLEC18C,intron_variant,,ENST00000569268,; G ENSG00000157335 ENST00000618957 Transcript missense_variant 581/2215 443/1341 148/446 T/S aCc/aGc rs3869428,COSM288429 1 1 CLEC18C HGNC HGNC:28538 protein_coding YES CCDS32473.1 ENSP00000477846 Q8NCF0 UPI000013DEE9 tolerated(0.54) benign(0.007) 4/13 cd05380,Gene3D:3.40.33.10,Pfam_domain:PF00188,SMART_domains:SM00198,Superfamily_domains:SSF55797,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF245,Prints_domain:PR00837 0,1 MODERATE SNV 5 0,1 PASS ACC . . 0.06018 0.125 0.07407 0.0247 0.1751 0.03998 0.04932 0.06764 0.02353 70177467 SLC35G6 . GRCh38 chr17 7482898 7482898 + Missense_Mutation SNP T T C rs200349946 7316-2140 BS_35M8GBJ4 T T c.914T>C p.Val305Ala p.V305A ENST00000412468 2/2 93 80 11 39 39 0 SLC35G6,missense_variant,p.Val305Ala,ENST00000412468,NM_001102614.1;ZBTB4,intron_variant,,ENST00000311403,NM_020899.3;ZBTB4,upstream_gene_variant,,ENST00000380599,NM_001128833.1;POLR2A,upstream_gene_variant,,ENST00000572844,;POLR2A,upstream_gene_variant,,ENST00000617998,NM_000937.4; C ENSG00000259224 ENST00000412468 Transcript missense_variant 1099/1697 914/1017 305/338 V/A gTg/gCg rs200349946,COSM707187 1 1 SLC35G6 HGNC HGNC:31351 protein_coding YES CCDS45603.1 ENSP00000396523 P0C7Q6 UPI000021D25A NM_001102614.1 tolerated(0.36) possibly_damaging(0.484) 2/2 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.04291 0.0223 0.06005 0.02264 0.06187 0.05716 0.04386 0.03002 0.02445 7482898 TP53 . GRCh38 chr17 7674893 7674893 + Missense_Mutation SNP C A A 7316-2140 BS_35M8GBJ4 C C c.638G>T p.Arg213Leu p.R213L ENST00000269305 6/11 80 2 76 43 43 0 TP53,missense_variant,p.Arg213Leu,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg213Leu,ENST00000420246,;TP53,missense_variant,p.Arg174Leu,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg174Leu,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg213Leu,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg174Leu,ENST00000610538,;TP53,missense_variant,p.Arg213Leu,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,missense_variant,p.Arg174Leu,ENST00000620739,;TP53,missense_variant,p.Arg213Leu,ENST00000445888,;TP53,missense_variant,p.Arg174Leu,ENST00000619485,;TP53,missense_variant,p.Arg81Leu,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,missense_variant,p.Arg54Leu,ENST00000618944,;TP53,missense_variant,p.Arg81Leu,ENST00000504290,;TP53,missense_variant,p.Arg54Leu,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,missense_variant,p.Arg81Leu,ENST00000504937,;TP53,missense_variant,p.Arg54Leu,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,missense_variant,p.Arg213Leu,ENST00000359597,;TP53,missense_variant,p.Arg202Leu,ENST00000615910,;TP53,missense_variant,p.Arg213Leu,ENST00000413465,;TP53,missense_variant,p.Arg81Leu,ENST00000509690,;TP53,missense_variant,p.Arg120Leu,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,intron_variant,,ENST00000574684,;TP53,missense_variant,p.Arg174Leu,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,; A ENSG00000141510 ENST00000269305 Transcript missense_variant 828/2579 638/1182 213/393 R/L cGa/cTa CM022474,CM004906,TP53_g.12707G>T,COSM43650,COSM3717655,COSM3717654,COSM3717653,COSM3717652,COSM3717651,COSM3717650,COSM3403265,COSM3378349,COSM242000,COSM241999,COSM241998,COSM241997,COSM1741334,COSM1726594,COSM131469,COSM131468,COSM131467,COSM131466,COSM11860,COSM10735 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 deleterious(0) probably_damaging(0.986) 6/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 MODERATE 1 SNV 1 1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS TCG . . 7674893 ARHGAP44 . GRCh38 chr17 12943643 12943643 + Missense_Mutation SNP T T C novel 7316-2140 BS_35M8GBJ4 T T c.707T>C p.Val236Ala p.V236A ENST00000379672 9/21 61 54 7 32 32 0 ARHGAP44,missense_variant,p.Val236Ala,ENST00000379672,NM_014859.5;ARHGAP44,missense_variant,p.Val236Ala,ENST00000340825,NM_001321166.1;ARHGAP44,missense_variant,p.Val236Ala,ENST00000262444,NM_001321164.1,NM_001321168.1,NM_001321167.1;ARHGAP44,upstream_gene_variant,,ENST00000616670,;ARHGAP44,missense_variant,p.Val236Ala,ENST00000544416,;ARHGAP44,3_prime_UTR_variant,,ENST00000580768,; C ENSG00000006740 ENST00000379672 Transcript missense_variant 1007/4228 707/2457 236/818 V/A gTa/gCa 1 1 ARHGAP44 HGNC HGNC:29096 protein_coding YES CCDS45616.1 ENSP00000368994 Q17R89 UPI0000252116 NM_014859.5 tolerated(0.6) benign(0.041) 9/21 Gene3D:1.20.1270.60,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF13,SMART_domains:SM00721,Superfamily_domains:SSF103657,cd07619 MODERATE 1 SNV 1 PASS GTA . . 12943643 BTBD17 . GRCh38 chr17 74356737 74356737 + Missense_Mutation SNP C C T novel 7316-2140 BS_35M8GBJ4 C C c.1357G>A p.Glu453Lys p.E453K ENST00000375366 3/3 69 40 29 38 38 0 BTBD17,missense_variant,p.Glu453Lys,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000389916,NM_153209.3;KIF19,downstream_gene_variant,,ENST00000551294,;,regulatory_region_variant,,ENSR00000098189,; T ENSG00000204347 ENST00000375366 Transcript missense_variant 1484/1805 1357/1437 453/478 E/K Gag/Aag 1 -1 BTBD17 HGNC HGNC:33758 protein_coding YES CCDS32719.1 ENSP00000364515 A6NE02 UPI00001D7961 NM_001080466.1 deleterious(0.01) possibly_damaging(0.551) 3/3 hmmpanther:PTHR24410,hmmpanther:PTHR24410:SF12 MODERATE 1 SNV 1 PASS TCG . . 74356737 TUBB8P12 . GRCh38 chr18 48156 48156 + Missense_Mutation SNP T T C rs761898165 7316-2140 BS_35M8GBJ4 T T c.569A>G p.His190Arg p.H190R ENST00000308911 4/4 180 84 91 48 45 3 TUBB8P12,missense_variant,p.His190Arg,ENST00000308911,;AP001005.3,downstream_gene_variant,,ENST00000572530,;AP001005.3,downstream_gene_variant,,ENST00000575325,;TUBB8P12,non_coding_transcript_exon_variant,,ENST00000594555,;AP001005.1,downstream_gene_variant,,ENST00000575066,; C ENSG00000173213 ENST00000308911 Transcript missense_variant 569/1335 569/1335 190/444 H/R cAc/cGc rs761898165 1 -1 TUBB8P12 HGNC HGNC:24983 protein_coding YES ENSP00000496713 A6NNZ2 UPI000049DE76 deleterious_low_confidence(0) probably_damaging(0.943) 4/4 cd02187,hmmpanther:PTHR11588:SF256,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF00091,Superfamily_domains:SSF52490,SMART_domains:SM00864,Prints_domain:PR01161 MODERATE SNV PASS GTG . . 8.206e-06 1.816e-05 48156 TUBB8P12 . GRCh38 chr18 48190 48190 + Missense_Mutation SNP C C T rs200370756 7316-2140 BS_35M8GBJ4 C C c.535G>A p.Val179Met p.V179M ENST00000308911 4/4 168 82 82 47 45 2 TUBB8P12,missense_variant,p.Val179Met,ENST00000308911,;AP001005.3,downstream_gene_variant,,ENST00000572530,;AP001005.3,downstream_gene_variant,,ENST00000575325,;TUBB8P12,non_coding_transcript_exon_variant,,ENST00000594555,;AP001005.1,downstream_gene_variant,,ENST00000575066,; T ENSG00000173213 ENST00000308911 Transcript missense_variant 535/1335 535/1335 179/444 V/M Gtg/Atg rs200370756,COSM6233599 1 -1 TUBB8P12 HGNC HGNC:24983 protein_coding YES ENSP00000496713 A6NNZ2 UPI000049DE76 deleterious_low_confidence(0.05) probably_damaging(0.952) 4/4 cd02187,hmmpanther:PTHR11588:SF256,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF00091,Superfamily_domains:SSF52490,SMART_domains:SM00864,Prints_domain:PR01161 0,1 MODERATE SNV 0,1 PASS ACG . . 0.0002349 0.0001193 0.0006209 0.0002266 0.0002462 0.0003686 0.0004244 48190 TUBB8P12 . GRCh38 chr18 48387 48387 + Missense_Mutation SNP G G A rs4798106 7316-2140 BS_35M8GBJ4 G G c.338C>T p.Thr113Met p.T113M ENST00000308911 4/4 289 83 188 39 34 3 TUBB8P12,missense_variant,p.Thr113Met,ENST00000308911,;AP001005.3,downstream_gene_variant,,ENST00000572530,;AP001005.3,downstream_gene_variant,,ENST00000575325,;TUBB8P12,non_coding_transcript_exon_variant,,ENST00000594555,;AP001005.1,downstream_gene_variant,,ENST00000575066,; A ENSG00000173213 ENST00000308911 Transcript missense_variant 338/1335 338/1335 113/444 T/M aCg/aTg rs4798106,COSM4131011 1 -1 TUBB8P12 HGNC HGNC:24983 protein_coding YES ENSP00000496713 A6NNZ2 UPI000049DE76 tolerated_low_confidence(0.17) benign(0) 4/4 cd02187,hmmpanther:PTHR11588:SF256,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF00091,Superfamily_domains:SSF52490,SMART_domains:SM00864,Prints_domain:PR01163,Prints_domain:PR01161 0,1 MODERATE SNV 0,1 PASS CGT . . 0.04146 0.00484 0.0253 0.04794 0.01697 0.06457 0.0629 0.03618 0.02314 48387 TUBB8P12 . GRCh38 chr18 48399 48399 + Missense_Mutation SNP C C A rs201395302 7316-2140 BS_35M8GBJ4 C C c.326G>T p.Gly109Val p.G109V ENST00000308911 4/4 297 83 199 38 33 3 TUBB8P12,missense_variant,p.Gly109Val,ENST00000308911,;AP001005.3,downstream_gene_variant,,ENST00000572530,;AP001005.3,downstream_gene_variant,,ENST00000575325,;TUBB8P12,non_coding_transcript_exon_variant,,ENST00000594555,;AP001005.1,downstream_gene_variant,,ENST00000575066,; A ENSG00000173213 ENST00000308911 Transcript missense_variant 326/1335 326/1335 109/444 G/V gGc/gTc rs201395302,COSM5956483,COSM1480367 1 -1 TUBB8P12 HGNC HGNC:24983 protein_coding YES ENSP00000496713 A6NNZ2 UPI000049DE76 deleterious_low_confidence(0) probably_damaging(0.998) 4/4 cd02187,hmmpanther:PTHR11588:SF256,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF00091,Superfamily_domains:SSF52490,SMART_domains:SM00864,Prints_domain:PR01163,Prints_domain:PR01161 0.2903 0.1036 0.3862 0.249 0.3996 0.4049 0,1,1 MODERATE SNV 0,1,1 PASS GCC . . 0.1504 0.01763 0.09049 0.202 0.0514 0.2705 0.2193 0.119 0.1125 48399 SLC14A1 . GRCh38 chr18 45739546 45739546 + Missense_Mutation SNP C C A novel 7316-2140 BS_35M8GBJ4 C C c.998C>A p.Pro333Gln p.P333Q ENST00000436407 7/9 70 39 30 36 35 0 SLC14A1,missense_variant,p.Pro277Gln,ENST00000321925,NM_001146036.2,NM_015865.6;SLC14A1,missense_variant,p.His228Asn,ENST00000619403,;SLC14A1,missense_variant,p.Pro277Gln,ENST00000586142,;SLC14A1,missense_variant,p.Pro169Gln,ENST00000502059,;SLC14A1,missense_variant,p.Pro333Gln,ENST00000436407,NM_001146037.1;SLC14A1,missense_variant,p.Pro333Gln,ENST00000415427,NM_001128588.3;SLC14A1,missense_variant,p.Pro277Gln,ENST00000586951,;SLC14A1,missense_variant,p.Pro172Gln,ENST00000402943,NM_001308278.1;SLC14A1,missense_variant,p.Pro145Gln,ENST00000535474,NM_001308279.1;SLC14A1,missense_variant,p.His228Asn,ENST00000589700,;SLC14A1,missense_variant,p.Pro145Gln,ENST00000589322,;SLC14A1,intron_variant,,ENST00000590377,;SLC14A1,downstream_gene_variant,,ENST00000590246,;AC023421.2,intron_variant,,ENST00000586213,;AC023421.2,intron_variant,,ENST00000589510,;SLC14A1,3_prime_UTR_variant,,ENST00000588179,;SLC14A1,non_coding_transcript_exon_variant,,ENST00000586854,;SLC14A1,non_coding_transcript_exon_variant,,ENST00000591541,;SLC14A1,downstream_gene_variant,,ENST00000591642,; A ENSG00000141469 ENST00000436407 Transcript missense_variant 1545/2264 998/1338 333/445 P/Q cCa/cAa 1 1 SLC14A1 HGNC HGNC:10918 protein_coding YES CCDS45860.1 ENSP00000390637 Q13336 UPI0000201C67 NM_001146037.1 deleterious(0.02) probably_damaging(0.982) 7/9 Gene3D:1.10.3430.10,Pfam_domain:PF03253,PIRSF_domain:PIRSF016502,hmmpanther:PTHR10464,hmmpanther:PTHR10464:SF5 MODERATE 1 SNV 2 1 PASS CCA . . 45739546 MADCAM1 . GRCh38 chr19 501801 501801 + Missense_Mutation SNP A A C rs76476234 7316-2140 BS_35M8GBJ4 A A c.800A>C p.Lys267Thr p.K267T ENST00000215637 4/5 69 46 10 36 33 0 MADCAM1,missense_variant,p.Lys48Thr,ENST00000587541,;MADCAM1,missense_variant,p.Lys267Thr,ENST00000215637,NM_130760.2;MADCAM1,missense_variant,p.Lys291Thr,ENST00000613880,;MADCAM1,missense_variant,p.Lys285Thr,ENST00000617201,;MADCAM1,missense_variant,p.Lys283Thr,ENST00000619333,;MADCAM1,missense_variant,p.Lys275Thr,ENST00000622462,;MADCAM1,missense_variant,p.Lys285Thr,ENST00000621286,;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.1,intron_variant,,ENST00000592413,;MADCAM1,downstream_gene_variant,,ENST00000622449,;,regulatory_region_variant,,ENSR00000286952,; C ENSG00000099866 ENST00000215637 Transcript missense_variant 846/1572 800/1149 267/382 K/T aAg/aCg rs76476234,COSM1564419 1 1 MADCAM1 HGNC HGNC:6765 protein_coding YES CCDS12028.1 ENSP00000215637 Q13477 UPI000013C68F NM_130760.2 tolerated(0.65) benign(0) 4/5 hmmpanther:PTHR14162,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS AAG . . 0.02782 0.02696 0.02281 0.0169 0.02971 0.03228 0.03533 0.02237 0.01475 501801 BEST2 . GRCh38 chr19 12755859 12755859 + Missense_Mutation SNP C C A novel 7316-2140 BS_35M8GBJ4 C C c.872C>A p.Ala291Asp p.A291D ENST00000549706 8/10 94 71 23 51 50 0 BEST2,missense_variant,p.Ala291Asp,ENST00000549706,;BEST2,missense_variant,p.Ala291Asp,ENST00000553030,;BEST2,missense_variant,p.Ala291Asp,ENST00000042931,NM_017682.2;BEST2,coding_sequence_variant,p.Ter1=,ENST00000552539,; A ENSG00000039987 ENST00000549706 Transcript missense_variant 1196/2183 872/1530 291/509 A/D gCt/gAt 1 1 BEST2 HGNC HGNC:17107 protein_coding YES CCDS42506.1 ENSP00000448310 Q8NFU1 UPI000007395A deleterious(0) probably_damaging(0.983) 8/10 hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF1,Pfam_domain:PF01062 MODERATE 1 SNV 5 PASS GCT . . 12755859 LINC00114 . GRCh38 chr21 38741320 38741320 + Splice_Site SNP C C A novel 7316-2140 BS_35M8GBJ4 C C n.1197+1G>T ENST00000411989 91 84 7 27 27 0 LINC00114,splice_donor_variant,,ENST00000411989,;LINC00114,splice_donor_variant,,ENST00000429621,;LINC00114,splice_donor_variant,,ENST00000448579,; A ENSG00000223806 ENST00000411989 Transcript splice_donor_variant,non_coding_transcript_variant 1 -1 LINC00114 HGNC HGNC:1265 lincRNA YES 1/3 HIGH 1 SNV 1 PASS ACC . . 38741320 DSCAM . GRCh38 chr21 40708576 40708576 + Missense_Mutation SNP G G T novel 7316-2140 BS_35M8GBJ4 G G c.239C>A p.Thr80Asn p.T80N ENST00000400454 2/33 69 54 14 39 39 0 DSCAM,missense_variant,p.Thr80Asn,ENST00000400454,NM_001389.3,NM_001271534.1; T ENSG00000171587 ENST00000400454 Transcript missense_variant 717/8552 239/6039 80/2012 T/N aCt/aAt 1 -1 DSCAM HGNC HGNC:3039 protein_coding YES CCDS42929.1 ENSP00000383303 O60469 UPI00000422DF NM_001389.3,NM_001271534.1 deleterious(0.01) probably_damaging(0.991) 2/33 Gene3D:2.60.40.10,hmmpanther:PTHR44107,hmmpanther:PTHR44107:SF1,SMART_domains:SM00408,Superfamily_domains:SSF48726,cd00096 MODERATE 1 SNV 1 PASS AGT . . 40708576 TRPM2 . GRCh38 chr21 44375969 44375969 + Missense_Mutation SNP C C G novel 7316-2140 BS_35M8GBJ4 C C c.908C>G p.Thr303Ser p.T303S ENST00000397932 6/33 79 34 43 52 51 0 TRPM2,missense_variant,p.Thr303Ser,ENST00000397928,NM_003307.3;TRPM2,missense_variant,p.Thr303Ser,ENST00000300482,;TRPM2,missense_variant,p.Thr303Ser,ENST00000300481,NM_001320351.1;TRPM2,missense_variant,p.Thr303Ser,ENST00000397932,NM_001320350.1;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,; G ENSG00000142185 ENST00000397932 Transcript missense_variant 921/5216 908/4662 303/1553 T/S aCc/aGc 1 1 TRPM2 HGNC HGNC:12339 protein_coding YES CCDS82681.1 ENSP00000381026 E9PGK7 UPI00015DF780 NM_001320350.1 tolerated(0.2) benign(0.014) 6/33 Gene3D:3.40.50.450,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2 MODERATE 1 SNV 1 PASS ACC . . 44375969 TNRC6B . GRCh38 chr22 40266716 40266716 + Missense_Mutation SNP C C T rs758681855 7316-2140 BS_35M8GBJ4 C C c.2486C>T p.Pro829Leu p.P829L ENST00000454349 5/23 57 31 24 36 36 0 TNRC6B,missense_variant,p.Pro829Leu,ENST00000454349,NM_001162501.1;TNRC6B,missense_variant,p.Pro829Leu,ENST00000335727,NM_015088.2;TNRC6B,missense_variant,p.Pro572Leu,ENST00000446273,;TNRC6B,intron_variant,,ENST00000301923,NM_001024843.1;TNRC6B,intron_variant,,ENST00000402203,; T ENSG00000100354 ENST00000454349 Transcript missense_variant 2697/18279 2486/5502 829/1833 P/L cCg/cTg rs758681855 1 1 TNRC6B HGNC HGNC:29190 protein_coding YES CCDS54533.1 ENSP00000401946 Q9UPQ9 UPI00017A6F19 NM_001162501.1 deleterious(0.02) benign(0.255) 5/23 hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CCG . . 1.631e-05 5.8e-05 9e-06 6.5e-05 40266716 FAM9C . GRCh38 chrX 13043243 13043243 + Missense_Mutation SNP C A A novel 7316-2140 BS_35M8GBJ4 C C c.67G>T p.Asp23Tyr p.D23Y ENST00000333995 3/7 41 0 39 28 28 0 FAM9C,missense_variant,p.Asp23Tyr,ENST00000542843,;FAM9C,missense_variant,p.Asp23Tyr,ENST00000333995,;FAM9C,missense_variant,p.Asp23Tyr,ENST00000380625,NM_174901.5;FAM9C,upstream_gene_variant,,ENST00000438997,;FAM9C,non_coding_transcript_exon_variant,,ENST00000468287,; A ENSG00000187268 ENST00000333995 Transcript missense_variant 198/3361 67/501 23/166 D/Y Gat/Tat 1 -1 FAM9C HGNC HGNC:18405 protein_coding YES CCDS35203.1 ENSP00000334430 Q8IZT9 A0A024RBW5 UPI000012A41A deleterious(0.01) benign(0.03) 3/7 mobidb-lite,hmmpanther:PTHR19368,hmmpanther:PTHR19368:SF6 MODERATE 1 SNV 1 PASS TCC . . 13043243 SSX3 . GRCh38 chrX 48354750 48354751 + Splice_Region INS - - A rs782574096 7316-2140 BS_35M8GBJ4 - - c.70-5dup ENST00000298396 39 24 9 11 9 0 SSX3,splice_region_variant,,ENST00000298396,NM_021014.3;SSX3,splice_region_variant,,ENST00000376893,;SSX3,splice_region_variant,,ENST00000612497,;SSX3,upstream_gene_variant,,ENST00000376895,;AL606490.1,upstream_gene_variant,,ENST00000452266,; A ENSG00000165584 ENST00000298396 Transcript splice_region_variant,intron_variant rs782574096 1 -1 SSX3 HGNC HGNC:11337 protein_coding YES CCDS14291.1 ENSP00000298396 Q99909 UPI000013E4CD NM_021014.3 2/7 0.0074 LOW 1 insertion 1 PASS ACA . . 0.0276 0.02889 0.02071 0.02339 0.03388 0.05425 0.02338 0.01782 0.0305 48354750 MAGED2 . GRCh38 chrX 54811310 54811310 + Missense_Mutation SNP T T A novel 7316-2140 BS_35M8GBJ4 T T c.907T>A p.Ser303Thr p.S303T ENST00000375068 5/13 45 29 14 20 19 0 MAGED2,missense_variant,p.Ser303Thr,ENST00000375068,NM_177433.2;MAGED2,missense_variant,p.Ser285Thr,ENST00000347546,;MAGED2,missense_variant,p.Ser303Thr,ENST00000375053,;MAGED2,missense_variant,p.Ser303Thr,ENST00000375058,NM_014599.5;MAGED2,missense_variant,p.Ser303Thr,ENST00000396224,NM_201222.2;MAGED2,missense_variant,p.Ser303Thr,ENST00000218439,;MAGED2,missense_variant,p.Ser218Thr,ENST00000627068,;MAGED2,missense_variant,p.Ser218Thr,ENST00000375060,;SNORA11,upstream_gene_variant,,ENST00000408789,;MAGED2,non_coding_transcript_exon_variant,,ENST00000463787,;MAGED2,downstream_gene_variant,,ENST00000485483,;MAGED2,upstream_gene_variant,,ENST00000487463,;MAGED2,upstream_gene_variant,,ENST00000487482,;MAGED2,downstream_gene_variant,,ENST00000497484,; A ENSG00000102316 ENST00000375068 Transcript missense_variant 1140/2189 907/1821 303/606 S/T Tcg/Acg 1 1 MAGED2 HGNC HGNC:16353 protein_coding YES CCDS14362.1 ENSP00000364209 Q9UNF1 A0A024R9Y7 UPI000000123B NM_177433.2 tolerated(0.07) benign(0.189) 5/13 Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF11,SMART_domains:SM01373 MODERATE 1 SNV 1 1 PASS CTC . . 54811310 ATRX . GRCh38 chrX 77557646 77557646 + Splice_Site SNP C T T novel 7316-2140 BS_35M8GBJ4 C C c.6505-1G>A p.X2169_splice ENST00000373344 39 0 39 16 16 0 ATRX,splice_acceptor_variant,,ENST00000373344,NM_000489.4;ATRX,splice_acceptor_variant,,ENST00000395603,NM_138270.3;ATRX,downstream_gene_variant,,ENST00000637175,;ATRX,splice_acceptor_variant,,ENST00000480283,;ATRX,splice_acceptor_variant,,ENST00000623706,; T ENSG00000085224 ENST00000373344 Transcript splice_acceptor_variant 1 -1 ATRX HGNC HGNC:886 protein_coding YES CCDS14434.1 ENSP00000362441 P46100 A4LAA3 UPI00001B644E NM_000489.4 29/34 HIGH 1 SNV 1 1 PASS CCT . . 77557646 RBMXL1 . GRCh38 chr1 88983554 88983554 + Missense_Mutation SNP T T A rs200727134 7316-2581 BS_V1P84V9F T T c.273A>T p.Arg91Ser p.R91S ENST00000399794 3/3 81 68 12 33 32 0 RBMXL1,missense_variant,p.Arg91Ser,ENST00000399794,NM_001162536.2;RBMXL1,missense_variant,p.Arg91Ser,ENST00000321792,NM_019610.5;RBMXL1,missense_variant,p.Arg91Ser,ENST00000413769,;KYAT3,intron_variant,,ENST00000260508,NM_001008661.2,NM_001349448.1;KYAT3,intron_variant,,ENST00000370486,;KYAT3,intron_variant,,ENST00000370491,NM_001008662.2,NM_001349447.1;KYAT3,intron_variant,,ENST00000446900,; A ENSG00000213516 ENST00000399794 Transcript missense_variant 989/5084 273/1173 91/390 R/S agA/agT rs200727134,COSM4593123 1 -1 RBMXL1 HGNC HGNC:25073 protein_coding YES CCDS716.1 ENSP00000446099 Q96E39 UPI000006DA18 NM_001162536.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF4,hmmpanther:PTHR44345,Gene3D:3.30.70.330,Superfamily_domains:SSF54928 0,1 MODERATE SNV 2 0,1 PASS CTC . . 4.563e-05 6.759e-05 0.0001247 5.478e-05 88983554 NBPF10 . GRCh38 chr1 146140007 146140007 + Missense_Mutation SNP C C T rs1323219306 7316-2581 BS_V1P84V9F C C c.580G>A p.Ala194Thr p.A194T ENST00000583866 5/90 47 35 11 23 23 0 NBPF10,missense_variant,p.Ala194Thr,ENST00000583866,NM_001039703.5,NM_001302371.1;NBPF10,5_prime_UTR_variant,,ENST00000617010,;AC239799.1,3_prime_UTR_variant,,ENST00000612520,; T ENSG00000271425 ENST00000583866 Transcript missense_variant 615/13042 580/11388 194/3795 A/T Gct/Act rs1323219306 1 -1 NBPF10 HGNC HGNC:31992 protein_coding YES CCDS76206.1 ENSP00000463957 A0A075B762 UPI00051EF319 NM_001039703.5,NM_001302371.1 tolerated(0.27) benign(0.053) 5/90 mobidb-lite,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF28,Pfam_domain:PF06758,Gene3D:1.20.58.160,SMART_domains:SM01148 MODERATE 1 SNV 5 PASS GCC . . 7.711e-06 6.27e-05 146140007 RPTN . GRCh38 chr1 152155537 152155537 + Missense_Mutation SNP A A G rs761416283 7316-2581 BS_V1P84V9F A A c.1562T>C p.Phe521Ser p.F521S ENST00000316073 3/3 81 63 11 35 34 0 RPTN,missense_variant,p.Phe521Ser,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; G ENSG00000215853 ENST00000316073 Transcript missense_variant 1627/3569 1562/2355 521/784 F/S tTc/tCc rs761416283,COSM4166756 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0,1 MODERATE 1 SNV 1 0,1 PASS GAA . . 0.0004326 0.0006076 0.0008765 0.0004333 0.001144 4.529e-05 0.0003649 0.0002085 0.0001414 152155537 ZNF717 . GRCh38 chr3 75737230 75737230 + Missense_Mutation SNP T T C rs3009024 7316-2581 BS_V1P84V9F T T c.2243A>G p.Lys748Arg p.K748R ENST00000478296 4/4 65 33 30 23 23 0 ZNF717,missense_variant,p.Lys748Arg,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; C ENSG00000227124 ENST00000478296 Transcript missense_variant 2520/3875 2243/2595 748/864 K/R aAg/aGg rs3009024,COSM4158379,COSM149422 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(0.14) benign(0.242) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CTT . . 0.01248 0.003051 0.009789 0.006998 0.04484 0.001354 0.01352 0.01309 0.01552 75737230 ZNF717 . GRCh38 chr3 75737477 75737477 + Missense_Mutation SNP G G C rs3009023 7316-2581 BS_V1P84V9F G G c.1996C>G p.Gln666Glu p.Q666E ENST00000478296 4/4 82 47 34 23 22 0 ZNF717,missense_variant,p.Gln666Glu,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; C ENSG00000227124 ENST00000478296 Transcript missense_variant 2273/3875 1996/2595 666/864 Q/E Caa/Gaa rs3009023,COSM4158408,COSM149423 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(0.14) benign(0.101) 4/4 hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377 0.0006 0.001 0.002 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TGC . . 2.233e-05 4.473e-05 1.842e-05 5.717e-05 75737477 ZNF717 . GRCh38 chr3 75737602 75737602 + Missense_Mutation SNP C C T rs3009020 7316-2581 BS_V1P84V9F C C c.1871G>A p.Arg624His p.R624H ENST00000478296 4/4 101 48 43 18 18 0 ZNF717,missense_variant,p.Arg624His,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; T ENSG00000227124 ENST00000478296 Transcript missense_variant 2148/3875 1871/2595 624/864 R/H cGt/cAt rs3009020,COSM3945703,COSM3945702 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 deleterious(0) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,Gene3D:2.20.28.10,PIRSF_domain:PIRSF013212 0.6743 0.5204 0.7277 0.8254 0.7326 0.6288 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ACG . . 0.4486 0.4644 0.4648 0.4309 0.517 0.4575 0.4381 0.4748 0.4139 75737602 ZNF717 . GRCh38 chr3 75737667 75737675 + In_Frame_Del DEL ACATTCATT ACATTCATT - rs201263569 7316-2581 BS_V1P84V9F ACATTCATT ACATTCATT c.1798_1806del p.Asn600_Cys602del p.N600_C602del ENST00000478296 4/4 90 47 41 14 13 0 ZNF717,inframe_deletion,p.Asn600_Cys602del,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; - ENSG00000227124 ENST00000478296 Transcript inframe_deletion 2075-2083/3875 1798-1806/2595 600-602/864 NEC/- AATGAATGT/- rs201263569,COSM5496003,COSM111374 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 deletion 5 0,1,1 PASS CCACATTCATTA . . 75737666 ZNF717 . GRCh38 chr3 75737791 75737791 + Missense_Mutation SNP C C A rs2918517 7316-2581 BS_V1P84V9F C C c.1682G>T p.Arg561Ile p.R561I ENST00000478296 4/4 105 50 54 18 18 0 ZNF717,missense_variant,p.Arg561Ile,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; A ENSG00000227124 ENST00000478296 Transcript missense_variant 1959/3875 1682/2595 561/864 R/I aGa/aTa rs2918517,COSM4158438,COSM4158437 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(0.09) benign(0.129) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0004 0.0008 0.001 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TCT . . 2.137e-05 0.0001518 0.0001107 0.0002747 75737791 ZNF717 . GRCh38 chr3 75738575 75738575 + Missense_Mutation SNP G G A rs1962893 7316-2581 BS_V1P84V9F G G c.898C>T p.Arg300Cys p.R300C ENST00000478296 4/4 81 40 35 25 25 0 ZNF717,missense_variant,p.Arg300Cys,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; A ENSG00000227124 ENST00000478296 Transcript missense_variant 1175/3875 898/2595 300/864 R/C Cgt/Tgt rs1962893,COSM4158522,COSM4158521 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 deleterious(0.05) possibly_damaging(0.862) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CGG . . 2.216e-05 0.0001585 75738575 ZNF717 . GRCh38 chr3 75738859 75738859 + Missense_Mutation SNP A A C rs3009006 7316-2581 BS_V1P84V9F A A c.614T>G p.Val205Gly p.V205G ENST00000478296 4/4 88 45 42 18 18 0 ZNF717,missense_variant,p.Val205Gly,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; C ENSG00000227124 ENST00000478296 Transcript missense_variant 891/3875 614/2595 205/864 V/G gTg/gGg rs3009006 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(0.31) benign(0) 4/4 hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60 MODERATE 1 SNV 5 PASS CAC . . 0.003158 0.0008425 0.008284 0.002018 0.01003 0.001708 0.006536 0.002796 75738859 ZNF717 . GRCh38 chr3 75739007 75739007 + Missense_Mutation SNP G G C rs3009004 7316-2581 BS_V1P84V9F G G c.466C>G p.Leu156Val p.L156V ENST00000478296 4/4 81 42 36 23 23 0 ZNF717,missense_variant,p.Leu156Val,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; C ENSG00000227124 ENST00000478296 Transcript missense_variant 743/3875 466/2595 156/864 L/V Ctg/Gtg rs3009004,COSM4158566,COSM149425 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(0.2) benign(0.088) 4/4 hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS AGC . . 75739007 ZNF717 . GRCh38 chr3 75741293 75741293 + Missense_Mutation SNP G G A rs1971517 7316-2581 BS_V1P84V9F G G c.110C>T p.Pro37Leu p.P37L ENST00000478296 3/4 67 31 35 29 27 0 ZNF717,missense_variant,p.Pro37Leu,ENST00000478296,NM_001290209.1;ZNF717,missense_variant,p.Pro87Leu,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,missense_variant,p.Pro87Leu,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,missense_variant,p.Pro37Leu,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,non_coding_transcript_exon_variant,,ENST00000491507,; A ENSG00000227124 ENST00000478296 Transcript missense_variant 387/3875 110/2595 37/864 P/L cCa/cTa rs1971517,COSM4158620,COSM4158619 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(0.56) benign(0.052) 3/4 PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TGG . . 75741293 ZNF717 . GRCh38 chr3 75741362 75741362 + Missense_Mutation SNP T T C rs2918519 7316-2581 BS_V1P84V9F T T c.41A>G p.Tyr14Cys p.Y14C ENST00000478296 3/4 74 35 37 29 29 0 ZNF717,missense_variant,p.Tyr14Cys,ENST00000478296,NM_001290209.1;ZNF717,missense_variant,p.Tyr64Cys,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,missense_variant,p.Tyr64Cys,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,missense_variant,p.Tyr14Cys,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,non_coding_transcript_exon_variant,,ENST00000491507,; C ENSG00000227124 ENST00000478296 Transcript missense_variant 318/3875 41/2595 14/864 Y/C tAc/tGc rs2918519,COSM4594073,COSM4594072 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(1) benign(0) 3/4 PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377 0.0020 0.0045 0.0041 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GTA . . 4.528e-05 0.0003451 75741362 AC233280.2 . GRCh38 chr3 195650473 195650473 + Splice_Region SNP A A C rs878948534 7316-2581 BS_V1P84V9F A A n.749-6T>G ENST00000603917 81 63 17 41 40 1 AC233280.2,splice_region_variant,,ENST00000603917,; C ENSG00000271662 ENST00000603917 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs878948534 1 -1 AC233280.2 Clone_based_ensembl_gene processed_pseudogene YES 1/1 LOW 1 SNV PASS AAT . . 195650473 MUC4 . GRCh38 chr3 195780119 195780119 + Missense_Mutation SNP C C G rs879324121 7316-2581 BS_V1P84V9F C C c.11461G>C p.Asp3821His p.D3821H ENST00000463781 2/25 35 28 7 24 23 0 MUC4,missense_variant,p.Asp3821His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Asp3821His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Asp3821His,ENST00000478156,;MUC4,missense_variant,p.Asp3821His,ENST00000466475,;MUC4,missense_variant,p.Asp3821His,ENST00000477756,;MUC4,missense_variant,p.Asp3821His,ENST00000477086,;MUC4,missense_variant,p.Asp3821His,ENST00000480843,;MUC4,missense_variant,p.Asp3821His,ENST00000462323,;MUC4,missense_variant,p.Asp3821His,ENST00000470451,;MUC4,missense_variant,p.Asp3821His,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 11921/17110 11461/16239 3821/5412 D/H Gac/Cac rs879324121,COSM1485010 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.23) benign(0.11) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TCA . . 0.005778 0.1408 0.005187 0.0004621 0.00207 0.000179 0.001516 0.005425 0.0004077 195780119 HLA-A . GRCh38 chr6 29943309 29943309 + Missense_Mutation SNP T T C rs1136700 7316-2581 BS_V1P84V9F T T c.385T>C p.Ser129Pro p.S129P ENST00000396634 5/10 34 26 8 24 23 1 HLA-A,missense_variant,p.Ser129Pro,ENST00000396634,;HLA-A,missense_variant,p.Ser129Pro,ENST00000376806,;HLA-A,missense_variant,p.Ser129Pro,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.Ser129Pro,ENST00000376802,;HLA-A,missense_variant,p.Ser129Pro,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;,regulatory_region_variant,,ENSR00000195346,;AL671277.1,upstream_gene_variant,,ENST00000429656,; C ENSG00000206503 ENST00000396634 Transcript missense_variant 726/1868 385/1098 129/365 S/P Tcg/Ccg rs1136700,COSM4006262 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D tolerated_low_confidence(1) benign(0) 5/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675,Prints_domain:PR01638 0.3027 0.289 0.1599 0.3264 0.2803 0.4213 0.2678 0.3482 0,1 MODERATE 1 SNV 0,1 1 PASS GTC . . 0.3182 0.2696 0.1821 0.427 0.3585 0.199 0.3466 0.304 0.4165 29943309 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-2581 BS_V1P84V9F A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 77 53 23 41 41 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 PRSS2 . GRCh38 chr7 142772207 142772207 + Missense_Mutation SNP T T C rs201659809 7316-2581 BS_V1P84V9F T T c.199T>C p.Ser67Pro p.S67P ENST00000633969 2/6 89 78 9 39 39 0 PRSS2,missense_variant,p.Ser67Pro,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Ser67Pro,ENST00000632998,;PRSS2,missense_variant,p.Ser67Pro,ENST00000632805,;PRSS2,missense_variant,p.Ser67Pro,ENST00000539842,NM_002770.3;PRSS2,splice_region_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,; C ENSG00000275896 ENST00000633969 Transcript missense_variant,splice_region_variant 215/852 199/786 67/261 S/P Tcg/Ccg rs201659809 1 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9 UPI0001578AE2 NM_001303414.1 tolerated(0.42) benign(0.003) 2/6 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 MODERATE 1 SNV 1 1 PASS GTC . . 142772207 VCP . GRCh38 chr9 35062975 35062975 + Splice_Region SNP C T T rs514492 7316-2581 BS_V1P84V9F C C c.811+3G>A ENST00000358901 46 8 38 31 24 7 VCP,splice_region_variant,,ENST00000358901,NM_007126.3;VCP,downstream_gene_variant,,ENST00000417448,;VCP,downstream_gene_variant,,ENST00000448530,;VCP,splice_region_variant,,ENST00000493886,;VCP,upstream_gene_variant,,ENST00000479300,;VCP,upstream_gene_variant,,ENST00000480327,; T ENSG00000165280 ENST00000358901 Transcript splice_region_variant,intron_variant rs514492,COSM150600 1 -1 VCP HGNC HGNC:12666 protein_coding YES CCDS6573.1 ENSP00000351777 P55072 V9HW80 UPI000005FB2E NM_007126.3 7/16 0.7011 0.7383 0.8372 0.4534 0.7664 0.7423 0.7313 0.7738 benign 0,1 25741868 LOW 1 SNV 1 1,1 1 PASS TCA . . 0.7465 0.7407 0.8436 0.782 0.4521 0.7185 0.7762 0.7623 0.707 35062975 CLUHP5 . GRCh38 chr10 133659367 133659367 + Splice_Region SNP T T C rs368823411 7316-2581 BS_V1P84V9F T T n.412A>G ENST00000438421 4/8 67 47 17 22 22 0 CLUHP5,splice_region_variant,,ENST00000438421,; C ENSG00000230468 ENST00000438421 Transcript splice_region_variant,non_coding_transcript_exon_variant 412/774 rs368823411 1 -1 CLUHP5 HGNC HGNC:38471 unprocessed_pseudogene YES 4/8 LOW 1 SNV PASS TTG . . 133659367 BICRA . GRCh38 chr19 47694592 47694592 + Missense_Mutation SNP A A C rs866652849 7316-2581 BS_V1P84V9F A A c.2761A>C p.Thr921Pro p.T921P ENST00000396720 8/15 38 19 8 17 14 0 BICRA,missense_variant,p.Thr921Pro,ENST00000396720,NM_015711.3;BICRA,missense_variant,p.Thr869Pro,ENST00000614245,;AC010519.1,intron_variant,,ENST00000599924,;,regulatory_region_variant,,ENSR00000110602,; C ENSG00000063169 ENST00000396720 Transcript missense_variant 2955/5739 2761/4683 921/1560 T/P Act/Cct rs866652849 1 1 BICRA HGNC HGNC:4332 protein_coding YES CCDS46134.1 ENSP00000379946 Q9NZM4 UPI00016278EE NM_015711.3 tolerated(0.07) benign(0.015) 8/15 hmmpanther:PTHR15572,hmmpanther:PTHR15572:SF1,mobidb-lite MODERATE 1 SNV 5 PASS CAC . . 0.0001451 0.0002562 0.0001056 0.0003758 4.534e-05 8.446e-05 0.0003104 47694592 RBMX . GRCh38 chrX 136874412 136874413 + Frame_Shift_Ins INS - - GG rs369155856 7316-2581 BS_V1P84V9F - - c.904_905dup p.Ser303HisfsTer137 p.S303Hfs*137 ENST00000320676 9/9 41 33 6 21 20 0 RBMX,frameshift_variant,p.Ser303HisfsTer137,ENST00000320676,NM_002139.3;RBMX,frameshift_variant,p.Ser175HisfsTer137,ENST00000565438,;RBMX,3_prime_UTR_variant,,ENST00000562646,;RBMX,intron_variant,,ENST00000419968,;RBMX,intron_variant,,ENST00000431446,NM_001164803.1;SNORD61,downstream_gene_variant,,ENST00000384252,;RBMX,upstream_gene_variant,,ENST00000496459,;RBMX,upstream_gene_variant,,ENST00000561733,;RBMX,downstream_gene_variant,,ENST00000567262,;RBMX,3_prime_UTR_variant,,ENST00000568578,;RBMX,3_prime_UTR_variant,,ENST00000464781,;RBMX,downstream_gene_variant,,ENST00000563370,;RBMX,downstream_gene_variant,,ENST00000565907,; GG ENSG00000147274 ENST00000320676 Transcript frameshift_variant 1060-1061/2012 905-906/1176 302/391 P/PX cca/ccCCa rs369155856 1 -1 RBMX HGNC HGNC:9910 protein_coding YES CCDS14661.1 ENSP00000359645 P38159 UPI0000134535 NM_002139.3 9/9 hmmpanther:PTHR44345,hmmpanther:PTHR44345:SF1,mobidb-lite HIGH 1 insertion 1 1 PASS ATG . . 0.00253 0.004141 0.00426 0.001795 0.0009377 0.001051 0.00283 0.001938 0.0009978 136874412 RPL10 . GRCh38 chrX 154400837 154400837 + Missense_Mutation SNP C C T rs979369776 7316-2581 BS_V1P84V9F C C c.628C>T p.Arg210Trp p.R210W ENST00000424325 7/7 45 39 6 27 26 0 RPL10,missense_variant,p.Arg210Trp,ENST00000424325,NM_001303625.1,NM_006013.4;RPL10,missense_variant,p.Arg210Trp,ENST00000344746,NM_001303626.1,NM_001303624.1;RPL10,missense_variant,p.Arg174Trp,ENST00000618723,NM_001256580.2;RPL10,missense_variant,p.Arg210Trp,ENST00000369817,;RPL10,missense_variant,p.Arg159Trp,ENST00000406022,;RPL10,synonymous_variant,p.Gly155=,ENST00000458500,NM_001256577.2;RPL10,intron_variant,,ENST00000427682,;RPL10,intron_variant,,ENST00000428169,;RPL10,intron_variant,,ENST00000449494,;RPL10,intron_variant,,ENST00000451365,;DNASE1L1,downstream_gene_variant,,ENST00000014935,;DNASE1L1,downstream_gene_variant,,ENST00000309585,NM_001009933.2;DNASE1L1,downstream_gene_variant,,ENST00000369807,NM_001303620.1;DNASE1L1,downstream_gene_variant,,ENST00000369808,NM_006730.3;DNASE1L1,downstream_gene_variant,,ENST00000369809,NM_001009932.2;DNASE1L1,downstream_gene_variant,,ENST00000393638,NM_001009934.2;DNASE1L1,downstream_gene_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000424626,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000436473,;DNASE1L1,downstream_gene_variant,,ENST00000447892,;DNASE1L1,downstream_gene_variant,,ENST00000451865,;SNORA70,downstream_gene_variant,,ENST00000384436,;AC245140.2,upstream_gene_variant,,ENST00000624054,;RPL10,downstream_gene_variant,,ENST00000479366,;RPL10,non_coding_transcript_exon_variant,,ENST00000482732,;RPL10,non_coding_transcript_exon_variant,,ENST00000492572,;RPL10,non_coding_transcript_exon_variant,,ENST00000489200,;RPL10,non_coding_transcript_exon_variant,,ENST00000491035,;RPL10,non_coding_transcript_exon_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000485196,;DNASE1L1,downstream_gene_variant,,ENST00000497242,; T ENSG00000147403 ENST00000424325 Transcript missense_variant 816/2318 628/645 210/214 R/W Cgg/Tgg rs979369776,COSM5793483 1 1 RPL10 HGNC HGNC:10298 protein_coding YES CCDS14746.1 ENSP00000413436 P27635 X5D2T3 UPI0000144CE2 NM_001303625.1,NM_006013.4 tolerated(0.31) benign(0) 7/7 hmmpanther:PTHR11726,hmmpanther:PTHR11726:SF11 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 154400837 SLC35E2A . GRCh38 chr1 1734736 1734736 + Missense_Mutation SNP C C T rs61777509 7316-121 BS_JQB0CTE7 C C c.686G>A p.Arg229His p.R229H ENST00000643905 5/6 65 54 10 28 28 0 SLC35E2A,missense_variant,p.Arg229His,ENST00000643905,NM_182838.2;SLC35E2A,missense_variant,p.Arg229His,ENST00000355439,NM_001199787.1;AL031282.2,non_coding_transcript_exon_variant,,ENST00000598846,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000647043,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000246421,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000475229,;AL031282.1,intron_variant,,ENST00000424604,;AL031282.1,intron_variant,,ENST00000577672,;AL031282.1,downstream_gene_variant,,ENST00000417099,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000643943,;AL031282.1,upstream_gene_variant,,ENST00000418950,; T ENSG00000215790 ENST00000643905 Transcript missense_variant 1109/6293 686/801 229/266 R/H cGt/cAt rs61777509,COSM4142977 1 -1 SLC35E2A HGNC HGNC:20863 protein_coding YES CCDS33.1 ENSP00000495949 UPI000006FA83 NM_182838.2 tolerated_low_confidence(0.23) possibly_damaging(0.477) 5/6 mobidb-lite,hmmpanther:PTHR44413,hmmpanther:PTHR44413:SF1 0,1 MODERATE SNV 0,1 PASS ACG . . 0.3075 0.08801 0.2931 0.3425 0.1221 0.4248 0.3581 0.3075 0.2544 1734736 RGPD4 . GRCh38 chr2 107859472 107859472 + Missense_Mutation SNP C C T rs143215949 7316-121 BS_JQB0CTE7 C C c.1552C>T p.Leu518Phe p.L518F ENST00000408999 11/23 85 75 8 43 42 0 RGPD4,missense_variant,p.Leu518Phe,ENST00000408999,NM_182588.2; T ENSG00000196862 ENST00000408999 Transcript missense_variant 1629/5464 1552/5277 518/1758 L/F Ctt/Ttt rs143215949,COSM4991564,COSM227222 1 1 RGPD4 HGNC HGNC:32417 protein_coding YES CCDS46381.1 ENSP00000386810 Q7Z3J3 UPI0000418FF7 NM_182588.2 tolerated(0.11) benign(0.001) 11/23 Gene3D:1.25.40.10 0.01445 0.004714 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCT . . 0.0001022 0.0002639 0.0003202 0.0001083 6.507e-05 107859472 C4orf50 . GRCh38 chr4 5989142 5989143 + Frame_Shift_Del DEL CT CT - rs143859826 7316-121 BS_JQB0CTE7 CT CT c.2903_2904del p.Glu968GlyfsTer11 p.E968Gfs*11 ENST00000531445 6/12 96 74 9 28 25 0 C4orf50,frameshift_variant,p.Glu968GlyfsTer11,ENST00000531445,;C4orf50,5_prime_UTR_variant,,ENST00000324058,;C4orf50,frameshift_variant,p.Glu308GlyfsTer11,ENST00000639345,; - ENSG00000181215 ENST00000531445 Transcript frameshift_variant 2979-2980/6860 2903-2904/4527 968/1508 E/X gAG/g rs143859826,COSM4746563 1 -1 C4orf50 HGNC HGNC:33766 protein_coding YES ENSP00000437121 E9PNW5 UPI0007E52BBE 6/12 hmmpanther:PTHR36866,Gene3D:1.20.5.340 0,1 HIGH 1 deletion 5 0,1 PASS ACCTC . . 0.02343 0.008373 0.01501 0.02383 0.011 0.03072 0.02821 0.01575 0.02539 5989141 GC . GRCh38 chr4 71756772 71756772 + Missense_Mutation SNP T T C novel 7316-121 BS_JQB0CTE7 T T c.1031A>G p.Asp344Gly p.D344G ENST00000504199 9/14 81 74 5 42 41 0 GC,missense_variant,p.Asp325Gly,ENST00000273951,NM_000583.3,NM_001204306.1;GC,missense_variant,p.Asp344Gly,ENST00000504199,NM_001204307.1;GC,missense_variant,p.Asp325Gly,ENST00000513476,;RNA5SP163,downstream_gene_variant,,ENST00000410304,;GC,non_coding_transcript_exon_variant,,ENST00000503472,;GC,upstream_gene_variant,,ENST00000503364,;GC,missense_variant,p.Asp325Gly,ENST00000509740,; C ENSG00000145321 ENST00000504199 Transcript missense_variant 1126/1777 1031/1482 344/493 D/G gAt/gGt 1 -1 GC HGNC HGNC:4187 protein_coding YES CCDS56332.1 ENSP00000421725 P02774 UPI0001D3B4EE NM_001204307.1 tolerated(0.09) benign(0.224) 9/14 Pfam_domain:PF00273,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF11,SMART_domains:SM00103,Superfamily_domains:SSF48552 MODERATE 1 SNV 1 PASS ATC . . 71756772 PRDM9 . GRCh38 chr5 23526806 23526806 + Missense_Mutation SNP T T C rs199686868 7316-121 BS_JQB0CTE7 T T c.1718T>C p.Ile573Thr p.I573T ENST00000296682 11/11 86 61 10 27 26 1 PRDM9,missense_variant,p.Ile573Thr,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,;,regulatory_region_variant,,ENSR00000314203,; C ENSG00000164256 ENST00000296682 Transcript missense_variant 1900/3691 1718/2685 573/894 I/T aTa/aCa rs199686868,COSM4006007,COSM3013837 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(1) benign(0.001) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ATA . . 0.0001021 0.0003594 0.0001974 0.0003581 7.196e-05 3.869e-05 23526806 MAP3K7 . GRCh38 chr6 90553591 90553591 + Splice_Region DEL A A - rs567831964 7316-121 BS_JQB0CTE7 A A c.608-5del ENST00000369329 81 65 7 29 25 0 MAP3K7,splice_region_variant,,ENST00000369325,NM_145332.2;MAP3K7,splice_region_variant,,ENST00000369327,NM_145333.2;MAP3K7,splice_region_variant,,ENST00000369329,NM_145331.2;MAP3K7,splice_region_variant,,ENST00000369332,NM_003188.3;MAP3K7,upstream_gene_variant,,ENST00000369320,; - ENSG00000135341 ENST00000369329 Transcript splice_region_variant,intron_variant rs567831964,COSM3730674,COSM3730673 1 -1 MAP3K7 HGNC HGNC:6859 protein_coding YES CCDS5028.1 ENSP00000358335 O43318 UPI000012EAD6 NM_145331.2 6/16 0,1,1 LOW 1 deletion 1 0,1,1 1 PASS AGAA . . 0.002861 0.001505 0.005071 0.00883 0.002409 0.0008453 0.00274 0.004892 0.002405 90553590 HOXA3 . GRCh38 chr7 27108342 27108342 + Missense_Mutation SNP T T G novel 7316-121 BS_JQB0CTE7 T T c.905A>C p.Gln302Pro p.Q302P ENST00000612286 4/4 65 48 9 25 25 0 HOXA3,missense_variant,p.Gln302Pro,ENST00000612286,NM_153631.2;HOXA3,missense_variant,p.Gln302Pro,ENST00000396352,NM_030661.4;HOXA3,missense_variant,p.Gln302Pro,ENST00000317201,;HOXA3,downstream_gene_variant,,ENST00000522456,;HOXA3,downstream_gene_variant,,ENST00000522788,;HOXA-AS2,intron_variant,,ENST00000518088,;HOXA3,downstream_gene_variant,,ENST00000521401,;,regulatory_region_variant,,ENSR00000209825,; G ENSG00000105997 ENST00000612286 Transcript missense_variant 1244/3396 905/1332 302/443 Q/P cAg/cCg 1 -1 HOXA3 HGNC HGNC:5104 protein_coding YES CCDS5404.1 ENSP00000484411 O43365 A0A024RA33 UPI000012CF22 NM_153631.2 tolerated(0.06) benign(0.003) 4/4 hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137,mobidb-lite MODERATE 1 SNV 2 PASS CTG . . 27108342 TRIM21 . GRCh38 chr11 4390069 4390069 + Missense_Mutation SNP C C A 7316-121 BS_JQB0CTE7 C C c.341G>T p.Cys114Phe p.C114F ENST00000254436 2/7 86 79 7 35 35 0 TRIM21,missense_variant,p.Cys114Phe,ENST00000254436,NM_003141.3;TRIM21,upstream_gene_variant,,ENST00000533692,; A ENSG00000132109 ENST00000254436 Transcript missense_variant 454/1924 341/1428 114/475 C/F tGt/tTt COSM4857020,COSM466803 1 -1 TRIM21 HGNC HGNC:11312 protein_coding YES CCDS44525.1 ENSP00000254436 P19474 UPI000013450B NM_003141.3 deleterious(0) probably_damaging(0.999) 2/7 Gene3D:3.30.40.10,Pfam_domain:PF00643,Prints_domain:PR01406,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF46,SMART_domains:SM00336,Superfamily_domains:SSF57845,cd00021 1,1 MODERATE 1 SNV 1 1,1 PASS ACA . . 4390069 NAXD . GRCh38 chr13 110635491 110635491 + Missense_Mutation SNP T T A novel 7316-121 BS_JQB0CTE7 T T c.675T>A p.Asp225Glu p.D225E ENST00000309957 8/10 100 93 6 31 31 0 NAXD,missense_variant,p.Asp225Glu,ENST00000309957,NM_001242881.1,NM_018210.3,NM_001242882.1;NAXD,missense_variant,p.Asp115Glu,ENST00000424185,NM_001242883.1;NAXD,non_coding_transcript_exon_variant,,ENST00000470164,; A ENSG00000213995 ENST00000309957 Transcript missense_variant 689/2659 675/1173 225/390 D/E gaT/gaA 1 1 NAXD HGNC HGNC:25576 protein_coding YES CCDS9513.1 ENSP00000311984 Q8IW45 A0A024RDX4 UPI000013DD48 NM_001242881.1,NM_018210.3,NM_001242882.1 tolerated(0.85) benign(0.01) 8/10 Gene3D:3.40.1190.20,HAMAP:MF_01965,Pfam_domain:PF01256,PROSITE_profiles:PS51383,hmmpanther:PTHR12592,hmmpanther:PTHR12592:SF0,Superfamily_domains:SSF53613,TIGRFAM_domain:TIGR00196,cd01171 MODERATE 1 SNV 2 PASS ATG . . 110635491 IGHV3-66 . GRCh38 chr14 106675274 106675274 + Missense_Mutation SNP T T C rs149638514 7316-121 BS_JQB0CTE7 T T c.91A>G p.Ile31Val p.I31V ENST00000390632 2/2 102 87 14 45 43 0 IGHV3-66,missense_variant,p.Ile31Val,ENST00000390632,;,regulatory_region_variant,,ENSR00000073901,;IGHVII-65-1,upstream_gene_variant,,ENST00000519992,; C ENSG00000211972 ENST00000390632 Transcript missense_variant 170/427 91/348 31/116 I/V Atc/Gtc rs149638514,COSM1732790 1 -1 IGHV3-66 HGNC HGNC:5619 IG_V_gene YES ENSP00000375041 A0A0C4DH42 UPI000011AAC3 tolerated_low_confidence(1) benign(0) 2/2 0.8359 0.4654 0.5089 0.4115 0.681 0,1 MODERATE 1 SNV 0,1 PASS ATC . . 0.4303 0.7105 0.3863 0.4504 0.5569 0.3634 0.3484 0.4193 0.6202 106675274 LILRA1 . GRCh38 chr19 54595780 54595780 + Missense_Mutation SNP T T G rs200318086 7316-121 BS_JQB0CTE7 T T c.803T>G p.Leu268Arg p.L268R ENST00000251372 6/10 81 66 10 39 39 0 LILRA1,missense_variant,p.Leu268Arg,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; G ENSG00000104974 ENST00000251372 Transcript missense_variant 985/1910 803/1470 268/489 L/R cTc/cGc rs200318086 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(1) benign(0.003) 6/10 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 0.0002 0.001 MODERATE 1 SNV 1 PASS CTC . . 1.624e-05 1.79e-05 6.498e-05 54595780 MN1 . GRCh38 chr22 27799615 27799617 + In_Frame_Del DEL TGC TGC - rs747503495 7316-121 BS_JQB0CTE7 TGC TGC c.927_929del p.Gln309del p.Q309del ENST00000302326 1/2 76 62 5 28 26 0 MN1,inframe_deletion,p.Gln309del,ENST00000302326,NM_002430.2;MN1,upstream_gene_variant,,ENST00000424656,; - ENSG00000169184 ENST00000302326 Transcript inframe_deletion 1882-1884/7556 927-929/3963 309-310/1320 QH/H caGCAt/cat rs747503495,COSM4385227 1 -1 MN1 HGNC HGNC:7180 protein_coding YES CCDS42998.1 ENSP00000304956 Q10571 A0A024R1C3 UPI0000207445 NM_002430.2 1/2 Gene3D:3.30.450.20,hmmpanther:PTHR15821,mobidb-lite,Low_complexity_(Seg):seg 0.01844 0.01585 other 0,1 MODERATE 1 deletion 1 1,1 1 PASS CATGCT . . 0.004729 0.0009188 0.002745 0.007059 0.001024 0.002555 0.006214 0.00493 0.007332 27799614 MAGEC1 . GRCh38 chrX 141905959 141905959 + Missense_Mutation SNP T T A rs74333625 7316-121 BS_JQB0CTE7 T T c.555T>A p.Ser185Arg p.S185R ENST00000285879 4/4 55 37 15 27 24 0 MAGEC1,missense_variant,p.Ser185Arg,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; A ENSG00000155495 ENST00000285879 Transcript missense_variant 841/4270 555/3429 185/1142 S/R agT/agA rs74333625,COSM4156628 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(0.27) benign(0.043) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 0,1 MODERATE 1 SNV 1 0,1 PASS GTA . . 0.008783 0.008216 0.003448 0.001645 0.007689 0.02564 0.007764 0.01354 0.0103 141905959 MAGEC1 . GRCh38 chrX 141905969 141905969 + Missense_Mutation SNP C C A rs74748246 7316-121 BS_JQB0CTE7 C C c.565C>A p.Pro189Thr p.P189T ENST00000285879 4/4 62 36 22 32 29 2 MAGEC1,missense_variant,p.Pro189Thr,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; A ENSG00000155495 ENST00000285879 Transcript missense_variant 851/4270 565/3429 189/1142 P/T Cct/Act rs74748246,COSM4156629 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(0.35) benign(0) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 141905969 PIK3CA . GRCh38 chr3 179199136 179199141 + In_Frame_Del DEL CAGTAG CAGTAG - 7316-194 BS_CCZZ0NQF CAGTAG CAGTAG c.311_316del p.Pro104_Gly106delinsArg p.P104_G106delinsR ENST00000263967 2/21 79 43 27 50 50 0 PIK3CA,inframe_deletion,p.Pro104_Gly106delinsArg,ENST00000263967,NM_006218.3;PIK3CA,inframe_deletion,p.Pro104_Gly106delinsArg,ENST00000643187,;PIK3CA,inframe_deletion,p.Pro104_Gly106delinsArg,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,; - ENSG00000121879 ENST00000263967 Transcript inframe_deletion 468-473/9093 311-316/3207 104-106/1068 PVG/R cCAGTAGgc/cgc COSM5752158,COSM27498 1 1 PIK3CA HGNC HGNC:8975 protein_coding YES CCDS43171.1 ENSP00000263967 P42336 UPI000013D494 NM_006218.3 2/21 PDB-ENSP_mappings:2rd0.A,Gene3D:3.10.20.90,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5uk8.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,Pfam_domain:PF02192,PROSITE_profiles:PS51544,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF94,SMART_domains:SM00143,Superfamily_domains:SSF54236 1,1 MODERATE 1 deletion 2 1,1 1 PASS ACCAGTAGG . . 179199135 MAML3 . GRCh38 chr4 139889485 139889487 + In_Frame_Del DEL GCT GCT - rs745861092 7316-194 BS_CCZZ0NQF GCT GCT c.1949_1951del p.Gln650del p.Q650del ENST00000509479 2/5 63 51 5 34 29 0 MAML3,inframe_deletion,p.Gln650del,ENST00000509479,NM_018717.4;MAML3,inframe_deletion,p.Gln178del,ENST00000398940,;MAML3,intron_variant,,ENST00000502696,; - ENSG00000196782 ENST00000509479 Transcript inframe_deletion 2806-2808/6844 1949-1951/3417 650-651/1138 QP/P cAGCcg/ccg rs745861092,COSM5092658,COSM4700064,COSM1721280,COSM1721279 1 -1 MAML3 HGNC HGNC:16272 protein_coding YES CCDS54805.1 ENSP00000421180 Q96JK9 UPI00001C1E1E NM_018717.4 2/5 Gene3D:1.10.110.10,hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8,mobidb-lite,Low_complexity_(Seg):seg 0,1,1,1,1 MODERATE 1 deletion 1 0,1,1,1,1 PASS CGGCTG . . 139889484 AL133351.3 . GRCh38 chr6 2910679 2910679 + Splice_Region SNP C C G novel 7316-194 BS_CCZZ0NQF C C n.127G>C ENST00000454998 2/2 85 54 27 34 33 0 AL133351.3,splice_region_variant,,ENST00000454998,; G ENSG00000232999 ENST00000454998 Transcript splice_region_variant,non_coding_transcript_exon_variant 127/193 1 -1 AL133351.3 Clone_based_ensembl_gene unprocessed_pseudogene YES 2/2 LOW 1 SNV PASS CCT . . 2910679 FOXO3 . GRCh38 chr6 108663973 108663974 + Frame_Shift_Ins INS - - G rs758436116 7316-194 BS_CCZZ0NQF - - c.1143dup p.Leu382AlafsTer3 p.L382Afs*3 ENST00000406360 2/3 73 63 5 29 27 0 FOXO3,frameshift_variant,p.Leu382AlafsTer3,ENST00000406360,NM_001455.3;FOXO3,frameshift_variant,p.Leu382AlafsTer3,ENST00000343882,NM_201559.2;FOXO3,frameshift_variant,p.Leu162AlafsTer3,ENST00000540898,; G ENSG00000118689 ENST00000406360 Transcript frameshift_variant 1483-1484/7341 1140-1141/2022 380-381/673 -/X -/G rs758436116 1 1 FOXO3 HGNC HGNC:3821 protein_coding YES CCDS5068.1 ENSP00000385824 O43524 UPI000012ADEA NM_001455.3 2/3 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF97 HIGH 1 insertion 1 3 1 PASS ATG . . 108663973 FGFR1 . GRCh38 chr8 38414788 38414788 + Missense_Mutation SNP C C G rs1057519897 7316-194 BS_CCZZ0NQF C C c.2061G>C p.Lys687Asn p.K687N ENST00000425967 15/19 77 54 21 34 34 0 FGFR1,missense_variant,p.Lys656Asn,ENST00000447712,NM_023110.2;FGFR1,missense_variant,p.Lys654Asn,ENST00000397091,NM_015850.3;FGFR1,missense_variant,p.Lys654Asn,ENST00000532791,NM_001174063.1;FGFR1,missense_variant,p.Lys687Asn,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Lys646Asn,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Lys567Asn,ENST00000356207,NM_001174066.1,NM_023105.2;FGFR1,missense_variant,p.Lys565Asn,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Lys654Asn,ENST00000397113,NM_001174065.1;FGFR1,missense_variant,p.Lys567Asn,ENST00000397103,;FGFR1,missense_variant,p.Lys654Asn,ENST00000397108,;FGFR1,3_prime_UTR_variant,,ENST00000341462,;FGFR1,3_prime_UTR_variant,,ENST00000619564,;FGFR1,upstream_gene_variant,,ENST00000526688,;FGFR1,missense_variant,p.Lys56Asn,ENST00000531196,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527114,;FGFR1,non_coding_transcript_exon_variant,,ENST00000533619,;FGFR1,downstream_gene_variant,,ENST00000466021,;FGFR1,downstream_gene_variant,,ENST00000487647,;FGFR1,downstream_gene_variant,,ENST00000524528,;FGFR1,downstream_gene_variant,,ENST00000527745,; G ENSG00000077782 ENST00000425967 Transcript missense_variant 2384/5375 2061/2562 687/853 K/N aaG/aaC rs1057519897,COSM6578115,COSM6578116,COSM6578117,COSM6578118,COSM6578119 1 -1 FGFR1 HGNC HGNC:3688 protein_coding YES CCDS55223.1 ENSP00000393312 P11362 UPI0001CE06A3 NM_001174067.1 deleterious(0) probably_damaging(0.999) 15/19 Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00219,Superfamily_domains:SSF56112,cd05098 likely_pathogenic 1,1,1,1,1,1 MODERATE 1 SNV 1 1,1,1,1,1,1 1 PASS TCT . . 38414788 FGFR1 . GRCh38 chr8 38414790 38414790 + Missense_Mutation SNP T T C rs869320694 7316-194 BS_CCZZ0NQF T T c.2059A>G p.Lys687Glu p.K687E ENST00000425967 15/19 75 53 20 35 35 0 FGFR1,missense_variant,p.Lys656Glu,ENST00000447712,NM_023110.2;FGFR1,missense_variant,p.Lys654Glu,ENST00000397091,NM_015850.3;FGFR1,missense_variant,p.Lys654Glu,ENST00000532791,NM_001174063.1;FGFR1,missense_variant,p.Lys687Glu,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Lys646Glu,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Lys567Glu,ENST00000356207,NM_001174066.1,NM_023105.2;FGFR1,missense_variant,p.Lys565Glu,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Lys654Glu,ENST00000397113,NM_001174065.1;FGFR1,missense_variant,p.Lys567Glu,ENST00000397103,;FGFR1,missense_variant,p.Lys654Glu,ENST00000397108,;FGFR1,3_prime_UTR_variant,,ENST00000341462,;FGFR1,3_prime_UTR_variant,,ENST00000619564,;FGFR1,upstream_gene_variant,,ENST00000526688,;FGFR1,missense_variant,p.Lys56Glu,ENST00000531196,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527114,;FGFR1,non_coding_transcript_exon_variant,,ENST00000533619,;FGFR1,downstream_gene_variant,,ENST00000466021,;FGFR1,downstream_gene_variant,,ENST00000487647,;FGFR1,downstream_gene_variant,,ENST00000524528,;FGFR1,downstream_gene_variant,,ENST00000527745,; C ENSG00000077782 ENST00000425967 Transcript missense_variant 2382/5375 2059/2562 687/853 K/E Aag/Gag rs869320694,COSM1559837,COSM1755711,COSM1755712,COSM1755713,COSM1755714,COSM302227,COSM302228,COSM35673,COSM3670392,COSM4006935 1 -1 FGFR1 HGNC HGNC:3688 protein_coding YES CCDS55223.1 ENSP00000393312 P11362 UPI0001CE06A3 NM_001174067.1 deleterious(0) probably_damaging(0.997) 15/19 Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00219,Superfamily_domains:SSF56112,cd05098 likely_pathogenic,pathogenic 0,1,1,1,1,1,1,1,1,1,1 26942290,25705862 MODERATE 1 SNV 1 1,1,1,1,1,1,1,1,1,1,1 1 PASS TTT . . 38414790 C1QTNF9B . GRCh38 chr13 23894190 23894190 + Missense_Mutation SNP A A G rs4067961 7316-194 BS_CCZZ0NQF A A c.178T>C p.Cys60Arg p.C60R ENST00000382140 3/4 66 53 13 27 26 0 C1QTNF9B,missense_variant,p.Cys60Arg,ENST00000382140,;C1QTNF9B,missense_variant,p.Cys60Arg,ENST00000382137,NM_001007537.2;C1QTNF9B,missense_variant,p.Cys60Arg,ENST00000382145,;MIPEP,upstream_gene_variant,,ENST00000382172,NM_005932.3;PCOTH,downstream_gene_variant,,ENST00000382133,NM_001014442.2;C1QTNF9B,non_coding_transcript_exon_variant,,ENST00000556521,;PCOTH,intron_variant,,ENST00000417034,;PCOTH,downstream_gene_variant,,ENST00000435039,;MIPEP,upstream_gene_variant,,ENST00000469167,; G ENSG00000205863 ENST00000382140 Transcript missense_variant 237/1825 178/1002 60/333 C/R Tgt/Cgt rs4067961,COSM3746327 1 -1 C1QTNF9B HGNC HGNC:34072 protein_coding YES CCDS31947.1 ENSP00000371575 B2RNN3 UPI000004F070 tolerated(0.36) benign(0) 3/4 mobidb-lite,hmmpanther:PTHR44460,Pfam_domain:PF01391,Gene3D:2.160.20.50 0.3552 0.3903 0.3775 0.4573 0.3867 0.1544 0.1543 0.1132 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 0.1229 0.224 0.1313 0.07409 0.2645 0.1248 0.111 0.1401 0.04471 23894190 AC004233.2 . GRCh38 chr16 2994820 2994820 + Missense_Mutation SNP G G A rs535976771 7316-194 BS_CCZZ0NQF G G c.430G>A p.Val144Ile p.V144I ENST00000573315 12/35 85 78 6 29 28 0 AC004233.2,missense_variant,p.Val144Ile,ENST00000573315,;LINC00514,downstream_gene_variant,,ENST00000573465,;LINC00514,downstream_gene_variant,,ENST00000571152,;LINC00514,downstream_gene_variant,,ENST00000572266,; A ENSG00000270168 ENST00000573315 Transcript missense_variant 451/2062 430/1611 144/536 V/I Gtc/Atc rs535976771 1 1 AC004233.2 Clone_based_ensembl_gene protein_coding YES ENSP00000488558 A0A0J9YXV3 UPI00064546FC tolerated(0.35) benign(0.08) 12/35 0.0002 0.0008 MODERATE SNV 5 PASS CGT . . 2994820 XPO6 . GRCh38 chr16 28133914 28133914 + Missense_Mutation SNP C C A novel 7316-194 BS_CCZZ0NQF C C c.1463G>T p.Arg488Leu p.R488L ENST00000304658 11/24 70 64 6 30 30 0 XPO6,missense_variant,p.Arg488Leu,ENST00000304658,NM_015171.3;XPO6,missense_variant,p.Arg474Leu,ENST00000565698,NM_001270940.1;XPO6,non_coding_transcript_exon_variant,,ENST00000564337,;XPO6,missense_variant,p.Arg5Leu,ENST00000564905,;XPO6,non_coding_transcript_exon_variant,,ENST00000565284,;XPO6,non_coding_transcript_exon_variant,,ENST00000567842,;XPO6,non_coding_transcript_exon_variant,,ENST00000563138,;XPO6,upstream_gene_variant,,ENST00000562408,; A ENSG00000169180 ENST00000304658 Transcript missense_variant 1964/4422 1463/3378 488/1125 R/L cGg/cTg 1 -1 XPO6 HGNC HGNC:19733 protein_coding YES CCDS42135.1 ENSP00000302790 Q96QU8 UPI000006F228 NM_015171.3 tolerated(0.63) benign(0.019) 11/24 hmmpanther:PTHR21452,Gene3D:1.25.10.10,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 PASS CCG . . 28133914 MLYCD . GRCh38 chr16 83908170 83908170 + Missense_Mutation SNP G G A rs142117752 7316-194 BS_CCZZ0NQF G G c.686G>A p.Arg229His p.R229H ENST00000262430 3/5 65 46 19 40 40 0 MLYCD,missense_variant,p.Arg229His,ENST00000262430,NM_012213.2;AC009119.2,missense_variant,p.Arg14His,ENST00000561562,;AC009119.2,upstream_gene_variant,,ENST00000563312,;AC009119.2,upstream_gene_variant,,ENST00000566309,;MLYCD,upstream_gene_variant,,ENST00000569024,; A ENSG00000103150 ENST00000262430 Transcript missense_variant 705/13038 686/1482 229/493 R/H cGc/cAc rs142117752 1 1 MLYCD HGNC HGNC:7150 protein_coding YES CCDS42206.1 ENSP00000262430 O95822 UPI0000128FD5 NM_012213.2 tolerated(0.08) benign(0.103) 3/5 Pfam_domain:PF05292,hmmpanther:PTHR28641 0.0014 0.0053 0.002298 MODERATE 1 SNV 1 1 PASS CGC . . 0.0002843 0.004056 0.0001191 2.685e-05 3.249e-05 83908170 CHD3 . GRCh38 chr17 7884913 7884913 + Missense_Mutation SNP T T A novel 7316-194 BS_CCZZ0NQF T T c.107T>A p.Val36Glu p.V36E ENST00000380358 1/40 68 54 6 24 21 0 CHD3,missense_variant,p.Val36Glu,ENST00000380358,NM_001005271.2;NAA38,intron_variant,,ENST00000576861,;CHD3,upstream_gene_variant,,ENST00000330494,NM_001005273.2;CHD3,upstream_gene_variant,,ENST00000358181,NM_005852.3;NAA38,intron_variant,,ENST00000570555,;CHD3,upstream_gene_variant,,ENST00000570758,;,regulatory_region_variant,,ENSR00000090915,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; A ENSG00000170004 ENST00000380358 Transcript missense_variant 108/7356 107/6180 36/2059 V/E gTg/gAg 1 1 CHD3 HGNC HGNC:1918 protein_coding YES CCDS32553.2 ENSP00000369716 Q12873 UPI00004DDA7C NM_001005271.2 deleterious_low_confidence(0) benign(0.02) 1/40 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF544,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GTG . . 7884913 NLRP12 . GRCh38 chr19 53807573 53807573 + Missense_Mutation SNP C C T rs199475868 7316-194 BS_CCZZ0NQF C C c.2168G>A p.Arg723Gln p.R723Q ENST00000391773 4/10 50 28 21 25 25 0 NLRP12,missense_variant,p.Arg722Gln,ENST00000324134,NM_144687.3;NLRP12,missense_variant,p.Arg723Gln,ENST00000391773,NM_001277126.1;NLRP12,missense_variant,p.Arg723Gln,ENST00000345770,;NLRP12,missense_variant,p.Arg722Gln,ENST00000391775,NM_001277129.1;NLRP12,missense_variant,p.Arg723Gln,ENST00000391772,;NLRP12,non_coding_transcript_exon_variant,,ENST00000492915,; T ENSG00000142405 ENST00000391773 Transcript missense_variant 2388/3715 2168/3189 723/1062 R/Q cGa/cAa rs199475868,COSM3538432,COSM177780 1 -1 NLRP12 HGNC HGNC:22938 protein_coding YES CCDS62785.1 ENSP00000375653 P59046 UPI0000132BB3 NM_001277126.1 tolerated(0.56) benign(0.077) 4/10 Gene3D:3.40.50.2000,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF117,SMART_domains:SM00368,Superfamily_domains:SSF52047,cd00116 0.0008 0.002 0.002 likely_benign 0,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS TCG . . 0.0002803 0.00116 8.06e-05 0.001299 53807573 KIR2DS4 . GRCh38 chr19 54837707 54837707 + Missense_Mutation SNP A A C 7316-194 BS_CCZZ0NQF A A c.202A>C p.Asn68His p.N68H ENST00000339924 3/8 43 36 6 12 12 0 ,regulatory_region_variant,,ENSR00000111560,;KIR2DS4,missense_variant,p.Asn68His,ENST00000339924,;KIR2DS4,missense_variant,p.Asn68His,ENST00000391729,NM_001281971.1,NM_001281972.1; C ENSG00000221957 ENST00000339924 Transcript missense_variant 291/1608 202/893 68/297 N/H Aac/Cac COSM4132559 1 1 KIR2DS4 HGNC HGNC:6336 polymorphic_pseudogene YES ENSP00000340011 tolerated_low_confidence(0.27) benign(0.015) 3/8 1 MODERATE 1 SNV 1 1 PASS CAA . . 54837707 LUZP4 . GRCh38 chrX 115306591 115306591 + Missense_Mutation SNP T T A rs960455641 7316-194 BS_CCZZ0NQF T T c.729T>A p.Ser243Arg p.S243R ENST00000371920 4/4 88 76 8 34 34 0 LUZP4,missense_variant,p.Ser243Arg,ENST00000371920,NM_001318840.1,NM_016383.4;LUZP4,3_prime_UTR_variant,,ENST00000371921,; A ENSG00000102021 ENST00000371920 Transcript missense_variant 736/1701 729/942 243/313 S/R agT/agA rs960455641,COSM3733994 1 1 LUZP4 HGNC HGNC:24971 protein_coding YES CCDS14567.1 ENSP00000360988 Q9P127 UPI0000036093 NM_001318840.1,NM_016383.4 tolerated(0.95) benign(0) 4/4 hmmpanther:PTHR22550,hmmpanther:PTHR22550:SF11 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 5.603e-06 8.167e-05 115306591 PNMA6F . GRCh38 chrX 153319501 153319501 + Missense_Mutation SNP G G A rs188949216 7316-194 BS_CCZZ0NQF G G c.1174C>T p.Arg392Cys p.R392C ENST00000436629 2/2 75 48 25 26 26 0 PNMA6F,missense_variant,p.Arg392Cys,ENST00000436629,NM_001354980.1; A ENSG00000225110 ENST00000436629 Transcript missense_variant 1528/3348 1174/1737 392/578 R/C Cgc/Tgc rs188949216 1 -1 PNMA6F HGNC HGNC:53119 protein_coding YES ENSP00000488302 A0A0J9YX94 UPI000645473D NM_001354980.1 deleterious(0) benign(0.244) 2/2 hmmpanther:PTHR23095:SF20,hmmpanther:PTHR23095,Pfam_domain:PF14893 0.0024 0.0095 0.0013 0.0039 MODERATE 1 SNV 5 PASS CGG . . 153319501 PRAMEF8 . GRCh38 chr1 13281853 13281853 + Missense_Mutation SNP A A G rs1183683944 7316-2184 BS_WYX72YAC A A c.943T>C p.Cys315Arg p.C315R ENST00000357367 4/4 99 86 11 42 42 0 PRAMEF8,missense_variant,p.Cys315Arg,ENST00000357367,NM_001012276.3;PRAMEF8,missense_variant,p.Cys315Arg,ENST00000621519,;PRAMEF8,missense_variant,p.Cys315Arg,ENST00000614831,;RNU6-771P,upstream_gene_variant,,ENST00000384780,; G ENSG00000182330 ENST00000357367 Transcript missense_variant 1026/1844 943/1425 315/474 C/R Tgc/Cgc rs1183683944 1 -1 PRAMEF8 HGNC HGNC:24074 protein_coding YES CCDS72709.1 ENSP00000349931 Q5VWM4 UPI000191706C NM_001012276.3 deleterious(0.02) possibly_damaging(0.83) 4/4 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,Superfamily_domains:SSF52047 MODERATE 1 SNV 1 PASS CAC . . 13281853 RPTN . GRCh38 chr1 152156639 152156639 + Missense_Mutation SNP T T C rs113327860 7316-2184 BS_WYX72YAC T T c.460A>G p.Arg154Gly p.R154G ENST00000316073 3/3 41 34 6 23 21 0 RPTN,missense_variant,p.Arg154Gly,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; C ENSG00000215853 ENST00000316073 Transcript missense_variant 525/3569 460/2355 154/784 R/G Aga/Gga rs113327860,COSM1498488 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 deleterious(0) benign(0.276) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0.0009566 0.002792 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 6.64e-06 5.668e-05 152156639 NR1I3 . GRCh38 chr1 161233256 161233256 + Missense_Mutation SNP A A C novel 7316-2184 BS_WYX72YAC A A c.321T>G p.Ser107Arg p.S107R ENST00000367980 4/9 81 68 6 42 40 1 NR1I3,missense_variant,p.Ser107Arg,ENST00000367983,NM_005122.4;NR1I3,missense_variant,p.Ser78Arg,ENST00000506209,;NR1I3,missense_variant,p.Ser107Arg,ENST00000367980,NM_001077482.2;NR1I3,missense_variant,p.Ser107Arg,ENST00000367982,NM_001077480.2;NR1I3,missense_variant,p.Ser32Arg,ENST00000515621,;NR1I3,missense_variant,p.Ser107Arg,ENST00000428574,NM_001077469.2;NR1I3,missense_variant,p.Ser107Arg,ENST00000442691,NM_001077478.2;NR1I3,missense_variant,p.Ser107Arg,ENST00000515452,;NR1I3,missense_variant,p.Ser78Arg,ENST00000367981,NM_001077472.2;NR1I3,missense_variant,p.Ser107Arg,ENST00000367979,;NR1I3,missense_variant,p.Ser107Arg,ENST00000367985,NM_001077481.2;NR1I3,missense_variant,p.Ser78Arg,ENST00000511676,NM_001077479.2;NR1I3,missense_variant,p.Ser107Arg,ENST00000367984,NM_001077471.2;NR1I3,missense_variant,p.Ser78Arg,ENST00000412844,NM_001077473.2;NR1I3,missense_variant,p.Ser107Arg,ENST00000505005,NM_001077474.2;NR1I3,missense_variant,p.Ser78Arg,ENST00000508740,NM_001077476.2;NR1I3,missense_variant,p.Ser78Arg,ENST00000437437,NM_001077477.2;NR1I3,missense_variant,p.Ser78Arg,ENST00000504010,NM_001077470.2;NR1I3,missense_variant,p.Ser78Arg,ENST00000512372,NM_001077475.2;NR1I3,intron_variant,,ENST00000502985,;NR1I3,intron_variant,,ENST00000508387,;NR1I3,intron_variant,,ENST00000511748,;NR1I3,intron_variant,,ENST00000511944,;NR1I3,intron_variant,,ENST00000628566,;TOMM40L,downstream_gene_variant,,ENST00000367987,;TOMM40L,downstream_gene_variant,,ENST00000367988,NM_032174.5;TOMM40L,downstream_gene_variant,,ENST00000545897,NM_001286374.1,NM_001286373.1;NR1I3,intron_variant,,ENST00000503547,;NR1I3,upstream_gene_variant,,ENST00000464422,;TOMM40L,downstream_gene_variant,,ENST00000465512,;TOMM40L,downstream_gene_variant,,ENST00000468803,;TOMM40L,downstream_gene_variant,,ENST00000470426,;TOMM40L,downstream_gene_variant,,ENST00000474486,;TOMM40L,downstream_gene_variant,,ENST00000475793,;NR1I3,upstream_gene_variant,,ENST00000479324,;NR1I3,upstream_gene_variant,,ENST00000488651,;TOMM40L,downstream_gene_variant,,ENST00000492482,;NR1I3,missense_variant,p.Ser78Arg,ENST00000506018,;NR1I3,intron_variant,,ENST00000502848,;NR1I3,intron_variant,,ENST00000505944,;NR1I3,intron_variant,,ENST00000507215,;NR1I3,intron_variant,,ENST00000510951,;NR1I3,intron_variant,,ENST00000512340,;NR1I3,downstream_gene_variant,,ENST00000491193,; C ENSG00000143257 ENST00000367980 Transcript missense_variant 524/1403 321/1074 107/357 S/R agT/agG 1 -1 NR1I3 HGNC HGNC:7969 protein_coding YES CCDS41429.1 ENSP00000356959 Q14994 UPI00003E7F93 NM_001077482.2 deleterious(0.05) possibly_damaging(0.634) 4/9 Gene3D:1.10.565.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF231,Superfamily_domains:SSF48508,cd06934 MODERATE SNV 5 1 PASS TAC . . 161233256 SRGAP3 . GRCh38 chr3 8985575 8985575 + Missense_Mutation SNP T T C novel 7316-2184 BS_WYX72YAC T T c.3244A>G p.Thr1082Ala p.T1082A ENST00000383836 22/22 76 58 10 36 32 2 SRGAP3,missense_variant,p.Thr1082Ala,ENST00000383836,NM_014850.3;SRGAP3,missense_variant,p.Thr1058Ala,ENST00000360413,NM_001033117.2; C ENSG00000196220 ENST00000383836 Transcript missense_variant 3672/8656 3244/3300 1082/1099 T/A Acg/Gcg 1 -1 SRGAP3 HGNC HGNC:19744 protein_coding YES CCDS2572.1 ENSP00000373347 O43295 UPI0000074099 NM_014850.3 tolerated_low_confidence(0.6) benign(0) 22/22 mobidb-lite MODERATE 1 SNV 1 1 PASS GTC . . 8985575 RRAGD . GRCh38 chr6 89411926 89411928 + In_Frame_Del DEL TCC TCC - rs765898614 7316-2184 BS_WYX72YAC TCC TCC c.66_68del p.Glu22del p.E22del ENST00000369415 1/7 77 66 5 32 29 0 RRAGD,inframe_deletion,p.Glu22del,ENST00000369415,NM_021244.4;RRAGD,5_prime_UTR_variant,,ENST00000359203,;RRAGD,upstream_gene_variant,,ENST00000492783,;,regulatory_region_variant,,ENSR00000199900,; - ENSG00000025039 ENST00000369415 Transcript inframe_deletion 343-345/4900 66-68/1203 22-23/400 ED/D gaGGAt/gat rs765898614,TMP_ESP_6_90121645_90121647,COSM4722818 1 -1 RRAGD HGNC HGNC:19903 protein_coding YES CCDS5022.1 ENSP00000358423 Q9NQL2 UPI000006E549 NM_021244.4 1/7 hmmpanther:PTHR11259,hmmpanther:PTHR11259:SF5,mobidb-lite,Low_complexity_(Seg):seg 0.02491 0.0241 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS CATCCT . . 0.004815 0.0113 0.004153 0.00475 0.01018 0.004671 0.004663 0.004098 0.002235 89411925 TNRC18 . GRCh38 chr7 5374208 5374208 + Missense_Mutation SNP T T G rs1011600641 7316-2184 BS_WYX72YAC T T c.3076A>C p.Thr1026Pro p.T1026P ENST00000430969 10/30 49 31 13 31 27 3 TNRC18,missense_variant,p.Thr1026Pro,ENST00000399537,;TNRC18,missense_variant,p.Thr1026Pro,ENST00000430969,NM_001080495.2;TNRC18,downstream_gene_variant,,ENST00000413081,; G ENSG00000182095 ENST00000430969 Transcript missense_variant 3425/10562 3076/8907 1026/2968 T/P Acc/Ccc rs1011600641,COSM6375038,COSM6375037,COSM6375036,COSM1229995,COSM1229994,COSM1229993 1 -1 TNRC18 HGNC HGNC:11962 protein_coding YES CCDS47534.1 ENSP00000395538 O15417 UPI00016632FD NM_001080495.2 tolerated(0.06) probably_damaging(0.96) 10/30 hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF21,mobidb-lite,Low_complexity_(Seg):seg 0,1,1,1,1,1,1 MODERATE 1 SNV 5 0,1,1,1,1,1,1 PASS GTG . . 0.001147 0.001025 0.003043 0.001587 0.0002923 0.001592 0.00222 5374208 ZAN . GRCh38 chr7 100752071 100752071 + Missense_Mutation SNP G G A rs13241331 7316-2184 BS_WYX72YAC G G c.1966G>A p.Val656Ile p.V656I ENST00000613979 14/48 44 35 7 28 27 0 ZAN,missense_variant,p.Val656Ile,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Val656Ile,ENST00000618565,;ZAN,missense_variant,p.Val656Ile,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Val656Ile,ENST00000546292,;ZAN,missense_variant,p.Val656Ile,ENST00000542585,;ZAN,missense_variant,p.Val656Ile,ENST00000538115,;ZAN,missense_variant,p.Val656Ile,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,; A ENSG00000146839 ENST00000613979 Transcript missense_variant 2131/8669 1966/8439 656/2812 V/I Gtc/Atc rs13241331,COSM6237270 1 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 A0A087WU49 UPI000441C79E NM_003386.2 tolerated(0.32) benign(0.428) 14/48 Low_complexity_(Seg):seg,hmmpanther:PTHR11339:SF367,hmmpanther:PTHR11339,mobidb-lite 0.0008 0.0014 0.001 0.001 0.001 0.0001214 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 0.000103 6.619e-05 1.809e-05 0.0007318 100752071 DGKZ . GRCh38 chr11 46347717 46347717 + Missense_Mutation SNP G G A rs114974750 7316-2184 BS_WYX72YAC G G c.58G>A p.Ala20Thr p.A20T ENST00000456247 1/31 70 59 10 35 34 0 DGKZ,missense_variant,p.Ala20Thr,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala20Thr,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,;,TF_binding_site_variant,,MA0062.2,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 146/3482 58/2787 20/928 A/T Gcc/Acc rs114974750,COSM4145731 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 deleterious_low_confidence(0.03) probably_damaging(0.982) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS CGC . . 0.4767 0.35 0.4856 0.4749 0.4896 0.4884 0.484 0.4752 0.4585 46347717 LRRIQ1 . GRCh38 chr12 85055754 85055754 + Missense_Mutation SNP T T A 7316-2184 BS_WYX72YAC T T c.961T>A p.Trp321Arg p.W321R ENST00000393217 8/27 79 63 7 37 34 1 LRRIQ1,missense_variant,p.Trp321Arg,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,; A ENSG00000133640 ENST00000393217 Transcript missense_variant 1022/5394 961/5169 321/1722 W/R Tgg/Agg COSM5951398,COSM5951397 1 1 LRRIQ1 HGNC HGNC:25708 protein_coding YES CCDS41816.1 ENSP00000376910 Q96JM4 A0A140VJN5 UPI0000ED4E82 NM_001079910.1 tolerated(0.29) benign(0.2) 8/27 mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR45596,Gene3D:3.80.10.10 1,1 MODERATE 1 SNV 1 1,1 PASS GTG . . 85055754 SERPINE3 . GRCh38 chr13 51341125 51341125 + Missense_Mutation SNP C C A novel 7316-2184 BS_WYX72YAC C C c.34C>A p.His12Asn p.H12N ENST00000521255 1/7 80 51 27 45 44 0 SERPINE3,missense_variant,p.His12Asn,ENST00000524365,;SERPINE3,missense_variant,p.His12Asn,ENST00000521255,NM_001101320.1;SERPINE3,missense_variant,p.His12Asn,ENST00000400389,;SERPINE3,missense_variant,p.His12Asn,ENST00000419898,; A ENSG00000253309 ENST00000521255 Transcript missense_variant 94/1439 34/1275 12/424 H/N Cac/Aac 1 1 SERPINE3 HGNC HGNC:24774 protein_coding YES CCDS53870.1 ENSP00000428316 A8MV23 UPI00001B2164 NM_001101320.1 tolerated(0.21) benign(0.035) 1/7 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11461:SF129,hmmpanther:PTHR11461 MODERATE 1 SNV 1 PASS TCA . . 51341125 GOLGA6L7 . GRCh38 chr15 28842934 28842934 + Missense_Mutation SNP T T C rs878911595 7316-2184 BS_WYX72YAC T T c.1170A>G p.Ile390Met p.I390M ENST00000567390 9/9 53 37 12 27 22 0 GOLGA6L7,missense_variant,p.Ile390Met,ENST00000567390,;PDCD6IPP2,intron_variant,,ENST00000564604,;PDCD6IPP2,intron_variant,,ENST00000566178,;PDCD6IPP2,downstream_gene_variant,,ENST00000563144,;GOLGA6L7,downstream_gene_variant,,ENST00000569815,; C ENSG00000261649 ENST00000567390 Transcript missense_variant 1296/2397 1170/1869 390/622 I/M atA/atG rs878911595 1 -1 GOLGA6L7 HGNC HGNC:37442 protein_coding YES ENSP00000490318 A0A1B0GV03 UPI0007E52AB8 tolerated(0.9) unknown(0) 9/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTA . . 28842934 RTL5 . GRCh38 chrX 72130399 72130399 + Missense_Mutation SNP A A T novel 7316-2184 BS_WYX72YAC A A c.1142T>A p.Met381Lys p.M381K ENST00000609883 1/1 64 55 5 26 24 0 RTL5,missense_variant,p.Met381Lys,ENST00000609883,NM_001024455.3;NHSL2,intron_variant,,ENST00000631375,;NHSL2,intron_variant,,ENST00000632230,;NHSL2,intron_variant,,ENST00000633930,NM_001013627.2;NHSL2,upstream_gene_variant,,ENST00000510661,;NHSL2,upstream_gene_variant,,ENST00000639939,;NHSL2,intron_variant,,ENST00000631833,;RTL5,missense_variant,p.Met381Lys,ENST00000479991,;NHSL2,upstream_gene_variant,,ENST00000373677,; T ENSG00000242732 ENST00000609883 Transcript missense_variant 1430/4105 1142/1710 381/569 M/K aTg/aAg 1 -1 RTL5 HGNC HGNC:29430 protein_coding YES CCDS55446.1 ENSP00000476792 Q5HYW3 UPI00001C2079 NM_001024455.3 tolerated_low_confidence(1) benign(0) 1/1 Gene3D:3.40.50.300,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS CAT . . 72130399 HMGN5 . GRCh38 chrX 81114934 81114934 + Missense_Mutation SNP A A T novel 7316-2184 BS_WYX72YAC A A c.564T>A p.Asp188Glu p.D188E ENST00000358130 7/7 64 54 5 39 37 1 HMGN5,missense_variant,p.Asp188Glu,ENST00000358130,NM_030763.2;HMGN5,missense_variant,p.Asp168Glu,ENST00000447319,;HMGN5,downstream_gene_variant,,ENST00000373250,;HMGN5,downstream_gene_variant,,ENST00000430960,;HMGN5,downstream_gene_variant,,ENST00000436386,;HMGN5,downstream_gene_variant,,ENST00000451455,;HMGN5,downstream_gene_variant,,ENST00000491275,; T ENSG00000198157 ENST00000358130 Transcript missense_variant 893/2126 564/849 188/282 D/E gaT/gaA 1 -1 HMGN5 HGNC HGNC:8013 protein_coding YES CCDS14448.1 ENSP00000350848 P82970 UPI0000130542 NM_030763.2 deleterious(0.05) benign(0.099) 7/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23087 MODERATE 1 SNV 2 PASS CAT . . 81114934 AC007179.2 . GRCh38 chr2 59384624 59384624 + Splice_Region SNP C C A novel 7316-173 BS_2EAATK5V C C n.474G>T ENST00000444001 2/4 88 70 16 37 37 0 AC007179.2,splice_region_variant,,ENST00000444001,;AC007179.2,intron_variant,,ENST00000412409,;AC007179.2,intron_variant,,ENST00000434611,;AC007100.1,intron_variant,,ENST00000606382,; A ENSG00000233891 ENST00000444001 Transcript splice_region_variant,non_coding_transcript_exon_variant 474/765 1 -1 AC007179.2 Clone_based_ensembl_gene lincRNA YES 2/4 LOW 1 SNV 3 PASS CCT . . 59384624 GCC2 . GRCh38 chr2 108481691 108481691 + Splice_Region SNP T T C rs1174490806 7316-173 BS_2EAATK5V T T c.3061-6T>C ENST00000309863 97 80 17 42 42 0 GCC2,splice_region_variant,,ENST00000309863,NM_181453.3;GCC2,splice_region_variant,,ENST00000482325,;GCC2,intron_variant,,ENST00000447558,;GCC2,upstream_gene_variant,,ENST00000393321,;GCC2,upstream_gene_variant,,ENST00000481729,; C ENSG00000135968 ENST00000309863 Transcript splice_region_variant,intron_variant rs1174490806 1 1 GCC2 HGNC HGNC:23218 protein_coding YES CCDS33268.1 ENSP00000307939 Q8IWJ2 UPI000049DF0C NM_181453.3 9/22 LOW 1 SNV 5 PASS ATT . . 4.618e-06 0.0001264 108481691 TRMT10C . GRCh38 chr3 101565161 101565161 + Missense_Mutation SNP C C A rs1246424301 7316-173 BS_2EAATK5V C C c.380C>A p.Thr127Lys p.T127K ENST00000309922 2/2 76 65 8 42 42 0 TRMT10C,missense_variant,p.Thr127Lys,ENST00000309922,NM_017819.3;TRMT10C,missense_variant,p.Thr127Lys,ENST00000495642,; A ENSG00000174173 ENST00000309922 Transcript missense_variant 534/1819 380/1212 127/403 T/K aCa/aAa rs1246424301 1 1 TRMT10C HGNC HGNC:26022 protein_coding YES CCDS43122.1 ENSP00000312356 Q7L0Y3 UPI0000034E2A NM_017819.3 deleterious(0.04) benign(0.001) 2/2 hmmpanther:PTHR13563,hmmpanther:PTHR13563:SF5 MODERATE 1 SNV 1 1 PASS ACA . . 9.446e-06 1.991e-05 101565161 SEC62 . GRCh38 chr3 169982821 169982821 + Missense_Mutation SNP T T A rs1268980861 7316-173 BS_2EAATK5V T T c.366T>A p.Asp122Glu p.D122E ENST00000337002 4/8 74 63 8 39 37 1 SEC62,missense_variant,p.Asp122Glu,ENST00000337002,NM_003262.3;SEC62,missense_variant,p.Asp122Glu,ENST00000480708,;SEC62-AS1,intron_variant,,ENST00000479626,;SEC62,upstream_gene_variant,,ENST00000470355,;SEC62,3_prime_UTR_variant,,ENST00000469515,;SEC62,3_prime_UTR_variant,,ENST00000460513,;SEC62,3_prime_UTR_variant,,ENST00000487736,;SEC62,non_coding_transcript_exon_variant,,ENST00000481435,;SEC62,non_coding_transcript_exon_variant,,ENST00000497277,;SEC62,upstream_gene_variant,,ENST00000469890,; A ENSG00000008952 ENST00000337002 Transcript missense_variant 424/6568 366/1200 122/399 D/E gaT/gaA rs1268980861 1 1 SEC62 HGNC HGNC:11846 protein_coding YES CCDS3210.1 ENSP00000337688 Q99442 UPI000007186C NM_003262.3 tolerated(0.98) benign(0) 4/8 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12443,Pfam_domain:PF03839,Gene3D:1.10.10.10 MODERATE 1 SNV 1 PASS ATA . . 1.461e-05 8.69e-05 2.151e-05 169982821 LINC00604 . GRCh38 chr5 40240444 40240444 + Splice_Region SNP T T A novel 7316-173 BS_2EAATK5V T T n.264+8T>A ENST00000637924 77 70 6 39 38 0 LINC00604,splice_region_variant,,ENST00000637924,;,regulatory_region_variant,,ENSR00000179965,; A ENSG00000250585 ENST00000637924 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 LINC00604 HGNC HGNC:43924 lincRNA YES 1/2 LOW 1 SNV 5 PASS TTT . . 40240444 ANKRD55 . GRCh38 chr5 56111499 56111499 + Missense_Mutation SNP G G T 7316-173 BS_2EAATK5V G G c.1249C>A p.Leu417Ile p.L417I ENST00000341048 10/12 73 59 12 29 29 0 ANKRD55,missense_variant,p.Leu417Ile,ENST00000341048,NM_024669.2;ANKRD55,missense_variant,p.Leu374Ile,ENST00000504958,;ANKRD55,missense_variant,p.Leu129Ile,ENST00000434982,;AC008892.1,downstream_gene_variant,,ENST00000644169,;AC008892.1,downstream_gene_variant,,ENST00000645512,;ANKRD55,downstream_gene_variant,,ENST00000505970,; T ENSG00000164512 ENST00000341048 Transcript missense_variant 1401/2502 1249/1845 417/614 L/I Ctc/Atc COSM278860 1 -1 ANKRD55 HGNC HGNC:25681 protein_coding YES CCDS34161.1 ENSP00000342295 Q3KP44 UPI00004572EF NM_024669.2 tolerated_low_confidence(0.06) benign(0.012) 10/12 1 MODERATE 1 SNV 2 1 1 PASS AGA . . 56111499 ANKRD31 . GRCh38 chr5 75146696 75146698 + In_Frame_Del DEL ATC ATC - rs1296859022 7316-173 BS_2EAATK5V ATC ATC c.2713_2715del p.Asp905del p.D905del ENST00000274361 14/25 74 64 5 39 38 0 ANKRD31,inframe_deletion,p.Asp905del,ENST00000506364,;ANKRD31,inframe_deletion,p.Asp905del,ENST00000274361,NM_001164443.1;ANKRD31,intron_variant,,ENST00000504022,; - ENSG00000145700 ENST00000274361 Transcript inframe_deletion 2905-2907/6036 2713-2715/5622 905/1873 D/- GAT/- rs1296859022 1 -1 ANKRD31 HGNC HGNC:26853 protein_coding YES CCDS47233.1 ENSP00000274361 Q8N7Z5 UPI00001D7FAE NM_001164443.1 14/25 Low_complexity_(Seg):seg,hmmpanther:PTHR24176:SF14,hmmpanther:PTHR24176 MODERATE 1 deletion 5 PASS CAATCA . . 7.341e-06 1.811e-05 75146695 NRG2 . GRCh38 chr5 139848279 139848280 + Frame_Shift_Del DEL CG CG - rs1178732936 7316-173 BS_2EAATK5V CG CG c.2190_2191del p.Gly731CysfsTer164 p.G731Cfs*164 ENST00000361474 10/10 49 41 5 26 21 0 NRG2,frameshift_variant,p.Gly665CysfsTer164,ENST00000541337,NM_001184935.1;NRG2,frameshift_variant,p.Gly731CysfsTer164,ENST00000361474,NM_004883.2;NRG2,frameshift_variant,p.Gly739CysfsTer164,ENST00000289422,NM_013982.2;NRG2,frameshift_variant,p.Gly733CysfsTer?,ENST00000358522,NM_013983.2;NRG2,frameshift_variant,p.Gly725CysfsTer?,ENST00000289409,NM_013981.3;NRG2,frameshift_variant,p.Gly528CysfsTer?,ENST00000340391,;PSD2,downstream_gene_variant,,ENST00000274710,NM_032289.2;AC008667.2,upstream_gene_variant,,ENST00000504413,;NRG2,downstream_gene_variant,,ENST00000378238,;,regulatory_region_variant,,ENSR00000187709,; - ENSG00000158458 ENST00000361474 Transcript frameshift_variant 2415-2416/3020 2190-2191/2553 730-731/850 RG/RX cgCGgt/cggt rs1178732936 1 -1 NRG2 HGNC HGNC:7998 protein_coding YES CCDS4217.1 ENSP00000354910 O14511 UPI0000130507 NM_004883.2 10/10 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF20,Pfam_domain:PF02158 HIGH 1 deletion 1 PASS ACCGC . . 139848278 TNS3 . GRCh38 chr7 47506948 47506949 + Splice_Region INS - - A rs145443395 7316-173 BS_2EAATK5V - - c.-152-5_-152-4insT ENST00000311160 90 78 6 31 29 0 TNS3,splice_region_variant,,ENST00000311160,NM_022748.11;TNS3,splice_region_variant,,ENST00000434451,;TNS3,splice_region_variant,,ENST00000442536,;TNS3,splice_region_variant,,ENST00000450444,;TNS3,splice_region_variant,,ENST00000457718,;TNS3,splice_region_variant,,ENST00000458317,; A ENSG00000136205 ENST00000311160 Transcript splice_region_variant,intron_variant rs145443395 1 -1 TNS3 HGNC HGNC:21616 protein_coding YES CCDS5506.2 ENSP00000312143 Q68CZ2 UPI00001AE9DA NM_022748.11 2/30 LOW 1 insertion 1 PASS GGG . . 0.06678 0.08591 0.09472 0.04421 0.08856 0.03241 0.06852 0.06495 0.04688 47506948 MUC17 . GRCh38 chr7 101039550 101039550 + Missense_Mutation SNP C C G rs34223735 7316-173 BS_2EAATK5V C C c.8134C>G p.Leu2712Val p.L2712V ENST00000306151 3/13 121 108 12 50 48 1 MUC17,missense_variant,p.Leu2712Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Leu2712Val,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 8198/14247 8134/13482 2712/4493 L/V Ctt/Gtt rs34223735,COSM6990751 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.2) benign(0.003) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CCT . . 0.0003477 0.0003025 0.000289 0.0006908 0.000284 0.0003453 0.0006066 0.0005495 101039550 MUC17 . GRCh38 chr7 101039562 101039562 + Missense_Mutation SNP C C G rs34924040 7316-173 BS_2EAATK5V C C c.8146C>G p.Pro2716Ala p.P2716A ENST00000306151 3/13 121 104 17 51 49 1 MUC17,missense_variant,p.Pro2716Ala,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro2716Ala,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 8210/14247 8146/13482 2716/4493 P/A Cct/Gct rs34924040,COSM4594221 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.17) benign(0.003) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 0.001664 0.003299 0.001088 0.003043 0.0002523 0.000724 0.001543 0.001338 0.003361 101039562 CALD1 . GRCh38 chr7 134933254 134933254 + Missense_Mutation SNP T T A novel 7316-173 BS_2EAATK5V T T c.485T>A p.Ile162Lys p.I162K ENST00000361675 5/15 76 60 6 26 22 0 CALD1,missense_variant,p.Ile156Lys,ENST00000393118,NM_033139.3;CALD1,missense_variant,p.Ile162Lys,ENST00000361901,NM_004342.6;CALD1,missense_variant,p.Ile162Lys,ENST00000361675,NM_033138.3;CALD1,missense_variant,p.Ile162Lys,ENST00000422748,NM_033157.3;CALD1,missense_variant,p.Ile156Lys,ENST00000495522,;CALD1,missense_variant,p.Ile156Lys,ENST00000424922,NM_033140.3;CALD1,missense_variant,p.Ile162Lys,ENST00000417172,;CALD1,missense_variant,p.Ile162Lys,ENST00000436461,;CALD1,downstream_gene_variant,,ENST00000435928,;CALD1,downstream_gene_variant,,ENST00000445569,;CALD1,downstream_gene_variant,,ENST00000454108,;CALD1,downstream_gene_variant,,ENST00000496024,;CALD1,stop_lost,p.Ter86LysextTer82,ENST00000430085,;CALD1,missense_variant,p.Ile156Lys,ENST00000443197,;CALD1,non_coding_transcript_exon_variant,,ENST00000482470,;,regulatory_region_variant,,ENSR00000218533,; A ENSG00000122786 ENST00000361675 Transcript missense_variant 714/3612 485/2382 162/793 I/K aTa/aAa 1 1 CALD1 HGNC HGNC:1441 protein_coding YES CCDS5835.1 ENSP00000354826 Q05682 UPI0000140A64 NM_033138.3 deleterious(0) benign(0.175) 5/15 mobidb-lite,hmmpanther:PTHR18949,hmmpanther:PTHR18949:SF0,Pfam_domain:PF02029 MODERATE 1 SNV 1 PASS ATA . . 134933254 TRBV29-1 . GRCh38 chr7 142740887 142740887 + Missense_Mutation SNP G G A rs372238829 7316-173 BS_2EAATK5V G G c.328G>A p.Val110Ile p.V110I ENST00000422143 2/2 69 54 15 26 25 0 TRBV29-1,missense_variant,p.Val110Ile,ENST00000422143,; A ENSG00000232869 ENST00000422143 Transcript missense_variant 395/402 328/335 110/111 V/I Gtt/Att rs372238829 1 1 TRBV29-1 HGNC HGNC:12210 TR_V_gene YES ENSP00000395459 A0A5B7 UPI0000115AC8 deleterious(0.02) benign(0.06) 2/2 0.0001205 MODERATE 1 SNV PASS CGT . . 5.267e-05 0.0003568 3.761e-05 6.699e-05 142740887 SLC35G5 . GRCh38 chr8 11332020 11332020 + Missense_Mutation SNP T T C rs62488716 7316-173 BS_2EAATK5V T T c.914T>C p.Val305Ala p.V305A ENST00000382435 1/1 78 69 9 36 35 0 SLC35G5,missense_variant,p.Val305Ala,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; C ENSG00000177710 ENST00000382435 Transcript missense_variant 1133/1321 914/1017 305/338 V/A gTg/gCg rs62488716,COSM4593558 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.35) possibly_damaging(0.484) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481 0,1 MODERATE SNV 0,1 PASS GTG . . 0.001862 0.0001339 0.0009706 0.0006698 0.004659 0.003283 0.001965 0.001793 0.001478 11332020 SLC35G5 . GRCh38 chr8 11332082 11332082 + Missense_Mutation SNP C C T rs62488717 7316-173 BS_2EAATK5V C C c.976C>T p.Arg326Trp p.R326W ENST00000382435 1/1 89 77 9 32 31 0 SLC35G5,missense_variant,p.Arg326Trp,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; T ENSG00000177710 ENST00000382435 Transcript missense_variant 1195/1321 976/1017 326/338 R/W Cgg/Tgg rs62488717,COSM3718698 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.17) benign(0) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 MODERATE SNV 0,1 PASS CCG . . 0.2934 0.1711 0.2975 0.3221 0.2793 0.3895 0.2956 0.2607 0.2856 11332082 EXOC5 . GRCh38 chr14 57209655 57209655 + Missense_Mutation SNP T T C novel 7316-173 BS_2EAATK5V T T c.1850A>G p.His617Arg p.H617R ENST00000621441 17/18 94 82 11 35 35 0 EXOC5,missense_variant,p.His617Arg,ENST00000621441,NM_006544.3;EXOC5,missense_variant,p.His620Arg,ENST00000413566,;EXOC5,missense_variant,p.His552Arg,ENST00000340918,;EXOC5,3_prime_UTR_variant,,ENST00000555148,;EXOC5,non_coding_transcript_exon_variant,,ENST00000554011,;,regulatory_region_variant,,ENSR00000068983,; C ENSG00000070367 ENST00000621441 Transcript missense_variant 2210/10589 1850/2127 617/708 H/R cAt/cGt 1 -1 EXOC5 HGNC HGNC:10696 protein_coding YES CCDS45111.1 ENSP00000484855 O00471 UPI0000047E53 NM_006544.3 deleterious(0) possibly_damaging(0.742) 17/18 Pfam_domain:PF07393,hmmpanther:PTHR12100,hmmpanther:PTHR12100:SF0 MODERATE 1 SNV 1 PASS ATG . . 57209655 SPTB . GRCh38 chr14 64793604 64793604 + Missense_Mutation SNP G G A rs763916428 7316-173 BS_2EAATK5V G G c.2059C>T p.Arg687Cys p.R687C ENST00000644917 14/36 70 53 15 37 37 0 SPTB,missense_variant,p.Arg687Cys,ENST00000644917,NM_001355436.1;SPTB,missense_variant,p.Arg687Cys,ENST00000556626,NM_001355436.1;SPTB,missense_variant,p.Arg687Cys,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Arg687Cys,ENST00000389720,NM_001355437.1;SPTB,missense_variant,p.Arg687Cys,ENST00000389721,NM_000347.5; A ENSG00000070182 ENST00000644917 Transcript missense_variant 2226/10177 2059/6987 687/2328 R/C Cgt/Tgt rs763916428,COSM5382524,COSM5382523 1 -1 SPTB HGNC HGNC:11274 protein_coding YES CCDS32099.1 ENSP00000495909 UPI000053030D NM_001355436.1 deleterious(0.04) probably_damaging(0.935) 14/36 Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,SMART_domains:SM00150,Superfamily_domains:SSF46966,cd00176,cd00176 0,1,1 MODERATE 1 SNV 0,1,1 1 PASS CGG . . 2.442e-05 0.0001192 1.798e-05 64793604 RMDN3 . GRCh38 chr15 40737695 40737696 + Frame_Shift_Ins INS - - T rs771465329 7316-173 BS_2EAATK5V - - c.1156dup p.Thr386AsnfsTer7 p.T386Nfs*7 ENST00000260385 9/12 62 52 5 40 37 0 RMDN3,frameshift_variant,p.Thr386AsnfsTer7,ENST00000260385,NM_001323894.1,NM_001323896.1;RMDN3,frameshift_variant,p.Thr386AsnfsTer7,ENST00000338376,NM_001323897.1,NM_001304802.1,NM_018145.2;RMDN3,frameshift_variant,p.Thr222AsnfsTer7,ENST00000558232,NM_001323895.1;RMDN3,downstream_gene_variant,,ENST00000560460,;RMDN3,non_coding_transcript_exon_variant,,ENST00000558560,;RMDN3,downstream_gene_variant,,ENST00000558364,;RMDN3,3_prime_UTR_variant,,ENST00000558777,;RMDN3,non_coding_transcript_exon_variant,,ENST00000560588,;RMDN3,non_coding_transcript_exon_variant,,ENST00000557831,;RMDN3,non_coding_transcript_exon_variant,,ENST00000560779,; T ENSG00000137824 ENST00000260385 Transcript frameshift_variant 2224-2225/3138 1156-1157/1413 386/470 T/NX act/aAct rs771465329 1 -1 RMDN3 HGNC HGNC:25550 protein_coding YES CCDS10063.1 ENSP00000260385 Q96TC7 A0A024R9P6 UPI0000037778 NM_001323894.1,NM_001323896.1 9/12 Gene3D:1.25.40.10,hmmpanther:PTHR16056,hmmpanther:PTHR16056:SF18,Superfamily_domains:SSF48452 HIGH 1 insertion 1 PASS AGT . . 3.937e-05 3.169e-05 0.000107 5.216e-05 5.815e-05 40737695 GFAP . GRCh38 chr17 44915265 44915267 + In_Frame_Del DEL CAT CAT - novel 7316-173 BS_2EAATK5V CAT CAT c.220_222del p.Met74del p.M74del ENST00000638281 1/7 63 53 6 22 22 0 GFAP,inframe_deletion,p.Met74del,ENST00000588735,NM_002055.4;GFAP,inframe_deletion,p.Met74del,ENST00000253408,;GFAP,inframe_deletion,p.Met74del,ENST00000638281,NM_001242376.1;GFAP,inframe_deletion,p.Met74del,ENST00000639277,;GFAP,inframe_deletion,p.Met74del,ENST00000435360,NM_001131019.2;GFAP,inframe_deletion,p.Met74del,ENST00000586793,;GFAP,inframe_deletion,p.Met74del,ENST00000588316,;GFAP,inframe_deletion,p.Met74del,ENST00000592320,;GFAP,inframe_deletion,p.Met74del,ENST00000588037,;GFAP,intron_variant,,ENST00000588957,;GFAP,upstream_gene_variant,,ENST00000586125,;GFAP,upstream_gene_variant,,ENST00000591880,;GFAP,downstream_gene_variant,,ENST00000593179,;GFAP,upstream_gene_variant,,ENST00000638304,;GFAP,upstream_gene_variant,,ENST00000638618,;GFAP,upstream_gene_variant,,ENST00000639921,;GFAP,upstream_gene_variant,,ENST00000587997,;GFAP,upstream_gene_variant,,ENST00000588640,;GFAP,upstream_gene_variant,,ENST00000591719,;GFAP,inframe_deletion,p.Met74del,ENST00000376990,;GFAP,non_coding_transcript_exon_variant,,ENST00000640552,;GFAP,non_coding_transcript_exon_variant,,ENST00000591327,;GFAP,intron_variant,,ENST00000585728,;GFAP,upstream_gene_variant,,ENST00000585543,;GFAP,upstream_gene_variant,,ENST00000586127,;GFAP,upstream_gene_variant,,ENST00000590922,;GFAP,upstream_gene_variant,,ENST00000638400,;GFAP,upstream_gene_variant,,ENST00000638488,;GFAP,upstream_gene_variant,,ENST00000639042,;GFAP,upstream_gene_variant,,ENST00000639369,; - ENSG00000131095 ENST00000638281 Transcript inframe_deletion 220-222/2099 220-222/1317 74/438 M/- ATG/- 1 -1 GFAP HGNC HGNC:4235 protein_coding YES CCDS59296.1 ENSP00000491088 P14136 UPI0000680AD5 NM_001242376.1 1/7 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF41,hmmpanther:PTHR23239,Gene3D:1.20.5.340,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593 MODERATE 1 deletion 5 1 PASS TCCATC . . 44915264 EXOC7 . GRCh38 chr17 76083757 76083757 + Splice_Region SNP A G G rs2665986 7316-173 BS_2EAATK5V A A c.2106-7T>C ENST00000335146 72 20 52 32 27 3 EXOC7,splice_region_variant,,ENST00000332065,NM_015219.4;EXOC7,splice_region_variant,,ENST00000335146,NM_001145297.3;EXOC7,splice_region_variant,,ENST00000357231,;EXOC7,splice_region_variant,,ENST00000405575,;EXOC7,splice_region_variant,,ENST00000411744,NM_001145298.3;EXOC7,splice_region_variant,,ENST00000467929,NM_001282313.1;EXOC7,splice_region_variant,,ENST00000589210,NM_001013839.3;EXOC7,splice_region_variant,,ENST00000607838,;EXOC7,splice_region_variant,,ENST00000634349,NM_001145299.3;ZACN,downstream_gene_variant,,ENST00000334586,NM_180990.3;EXOC7,upstream_gene_variant,,ENST00000591724,;EXOC7,splice_region_variant,,ENST00000465252,;EXOC7,splice_region_variant,,ENST00000467586,;ZACN,downstream_gene_variant,,ENST00000421794,;ZACN,downstream_gene_variant,,ENST00000425015,;EXOC7,downstream_gene_variant,,ENST00000460476,;EXOC7,downstream_gene_variant,,ENST00000486053,;EXOC7,downstream_gene_variant,,ENST00000494787,;ZACN,downstream_gene_variant,,ENST00000524242,;ZACN,downstream_gene_variant,,ENST00000590045,;ZACN,downstream_gene_variant,,ENST00000591500,;EXOC7,downstream_gene_variant,,ENST00000592559,; G ENSG00000182473 ENST00000335146 Transcript splice_region_variant,intron_variant rs2665986,COSM3932738,COSM3932737 1 -1 EXOC7 HGNC HGNC:23214 protein_coding YES CCDS45782.1 ENSP00000334100 Q9UPT5 UPI00001AFC78 NM_001145297.3 19/19 0.611 0.649 0.4899 0.5238 0.6213 0.7249 0.6355 0.6106 0,1,1 LOW 1 SNV 1 0,1,1 PASS GAG . . 0.5943 0.6443 0.4415 0.6105 0.478 0.605 0.6166 0.5949 0.7073 76083757 IGLV5-45 . GRCh38 chr22 22376250 22376250 + Missense_Mutation SNP T T A rs61731379 7316-173 BS_2EAATK5V T T c.114T>A p.Ser38Arg p.S38R ENST00000390296 2/2 86 66 18 44 42 1 IGLV5-45,missense_variant,p.Ser38Arg,ENST00000390296,;IGLV1-44,upstream_gene_variant,,ENST00000390297,; A ENSG00000211650 ENST00000390296 Transcript missense_variant 142/397 114/369 38/123 S/R agT/agA rs61731379 1 1 IGLV5-45 HGNC HGNC:5924 IG_V_gene YES ENSP00000374831 A0A087WSX0 UPI0004620A24 tolerated(1) benign(0) 2/2 MODERATE 1 SNV PASS GTC . . 0.169 0.06662 0.1856 0.2732 0.08747 0.1402 0.2032 0.1773 0.1332 22376250 IGLV5-45 . GRCh38 chr22 22376251 22376251 + Missense_Mutation SNP C C T rs79280084 7316-173 BS_2EAATK5V C C c.115C>T p.Leu39Phe p.L39F ENST00000390296 2/2 86 66 18 44 42 1 IGLV5-45,missense_variant,p.Leu39Phe,ENST00000390296,;IGLV1-44,upstream_gene_variant,,ENST00000390297,; T ENSG00000211650 ENST00000390296 Transcript missense_variant 143/397 115/369 39/123 L/F Ctc/Ttc rs79280084 1 1 IGLV5-45 HGNC HGNC:5924 IG_V_gene YES ENSP00000374831 A0A087WSX0 UPI0004620A24 deleterious(0.02) possibly_damaging(0.48) 2/2 MODERATE 1 SNV PASS TCT . . 0.1413 0.04876 0.17 0.2436 0.07274 0.09909 0.1696 0.1522 0.1118 22376251 PJA1 . GRCh38 chrX 69162869 69162869 + Missense_Mutation SNP C C T novel 7316-173 BS_2EAATK5V C C c.370G>A p.Asp124Asn p.D124N ENST00000361478 2/2 79 66 12 30 30 0 PJA1,missense_variant,p.Asp124Asn,ENST00000361478,NM_145119.3;PJA1,missense_variant,p.Asp124Asn,ENST00000374583,;PJA1,missense_variant,p.Asp69Asn,ENST00000374571,NM_001032396.2;PJA1,missense_variant,p.Asp124Asn,ENST00000590146,;PJA1,intron_variant,,ENST00000374584,NM_022368.4;PJA1,upstream_gene_variant,,ENST00000471141,;PJA1,non_coding_transcript_exon_variant,,ENST00000477231,; T ENSG00000181191 ENST00000361478 Transcript missense_variant 748/2755 370/1932 124/643 D/N Gat/Aat 1 -1 PJA1 HGNC HGNC:16648 protein_coding YES CCDS14393.1 ENSP00000355014 Q8NG27 UPI000006D00A NM_145119.3 deleterious(0.04) benign(0.143) 2/2 mobidb-lite,hmmpanther:PTHR15710:SF2,hmmpanther:PTHR15710 MODERATE 1 SNV 1 PASS TCT . . 69162869 SPEN . GRCh38 chr1 15935976 15935976 + Missense_Mutation SNP A A C rs769360962 7316-1763 BS_EYXVNC69 A A c.9736A>C p.Thr3246Pro p.T3246P ENST00000375759 11/15 60 49 9 27 26 1 SPEN,missense_variant,p.Thr3246Pro,ENST00000375759,NM_015001.2;SPEN,upstream_gene_variant,,ENST00000487496,; C ENSG00000065526 ENST00000375759 Transcript missense_variant 9940/12232 9736/10995 3246/3664 T/P Acc/Ccc rs769360962,COSM4142939 1 1 SPEN HGNC HGNC:17575 protein_coding YES CCDS164.1 ENSP00000364912 Q96T58 UPI000006FF0C NM_015001.2 tolerated(0.25) benign(0) 11/15 hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF48,mobidb-lite,Low_complexity_(Seg):seg benign 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAC . . 0.05216 0.04359 0.01727 0.01483 0.02934 0.1426 0.07687 0.02243 0.01768 15935976 FLG2 . GRCh38 chr1 152356569 152356569 + Missense_Mutation SNP T T A novel 7316-1763 BS_EYXVNC69 T T c.1217A>T p.Asn406Ile p.N406I ENST00000388718 3/3 106 49 55 44 43 0 FLG2,missense_variant,p.Asn406Ile,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 1290/9124 1217/7176 406/2391 N/I aAc/aTc 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 deleterious(0) possibly_damaging(0.741) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS GTT . . 152356569 S100A12 . GRCh38 chr1 153374584 153374584 + Missense_Mutation SNP T T A novel 7316-1763 BS_EYXVNC69 T T c.9A>T p.Lys3Asn p.K3N ENST00000368737 2/3 115 103 10 46 45 0 S100A12,missense_variant,p.Lys3Asn,ENST00000368737,NM_005621.1;,regulatory_region_variant,,ENSR00000013786,; A ENSG00000163221 ENST00000368737 Transcript missense_variant 127/518 9/279 3/92 K/N aaA/aaT 1 -1 S100A12 HGNC HGNC:10489 protein_coding YES CCDS1037.1 ENSP00000357726 P80511 UPI0000034181 NM_005621.1 deleterious(0.03) benign(0.051) 2/3 Gene3D:1.10.238.10,PDB-ENSP_mappings:1e8a.A,PDB-ENSP_mappings:1e8a.B,PDB-ENSP_mappings:1gqm.A,PDB-ENSP_mappings:1gqm.B,PDB-ENSP_mappings:1gqm.C,PDB-ENSP_mappings:1gqm.D,PDB-ENSP_mappings:1gqm.E,PDB-ENSP_mappings:1gqm.F,PDB-ENSP_mappings:1gqm.G,PDB-ENSP_mappings:1gqm.H,PDB-ENSP_mappings:1gqm.I,PDB-ENSP_mappings:1gqm.J,PDB-ENSP_mappings:1gqm.K,PDB-ENSP_mappings:1gqm.L,PDB-ENSP_mappings:1odb.A,PDB-ENSP_mappings:1odb.B,PDB-ENSP_mappings:1odb.C,PDB-ENSP_mappings:1odb.D,PDB-ENSP_mappings:1odb.E,PDB-ENSP_mappings:1odb.F,PDB-ENSP_mappings:2m9g.A,PDB-ENSP_mappings:2m9g.B,PDB-ENSP_mappings:2wc8.A,PDB-ENSP_mappings:2wc8.B,PDB-ENSP_mappings:2wc8.C,PDB-ENSP_mappings:2wc8.D,PDB-ENSP_mappings:2wcb.A,PDB-ENSP_mappings:2wcb.B,PDB-ENSP_mappings:2wce.A,PDB-ENSP_mappings:2wce.B,PDB-ENSP_mappings:2wcf.A,PDB-ENSP_mappings:2wcf.B,PDB-ENSP_mappings:2wcf.C,PDB-ENSP_mappings:2wcf.D,PDB-ENSP_mappings:2wcf.E,PDB-ENSP_mappings:2wcf.F,hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF77,Superfamily_domains:SSF47473,cd05030 MODERATE 1 SNV 1 PASS GTT . . 153374584 ASCL5 . GRCh38 chr1 201114877 201114877 + Missense_Mutation SNP T T G novel 7316-1763 BS_EYXVNC69 T T c.496A>C p.Thr166Pro p.T166P ENST00000449188 2/2 114 87 16 39 37 1 ASCL5,missense_variant,p.Thr166Pro,ENST00000449188,;ASCL5,missense_variant,p.Thr166Pro,ENST00000458416,NM_001270601.1;CACNA1S,upstream_gene_variant,,ENST00000362061,NM_000069.2;CACNA1S,upstream_gene_variant,,ENST00000367338,;,regulatory_region_variant,,ENSR00000018035,; G ENSG00000232237 ENST00000449188 Transcript missense_variant 1102/2026 496/621 166/206 T/P Acc/Ccc 1 -1 ASCL5 HGNC HGNC:33169 protein_coding YES CCDS59202.1 ENSP00000472681 M0R2M9 UPI0002742D0F tolerated(0.17) unknown(0) 2/2 hmmpanther:PTHR13935,hmmpanther:PTHR13935:SF55,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 3 PASS GTG . . 201114877 H3F3A . GRCh38 chr1 226064434 226064434 + Missense_Mutation SNP A A T rs1057519903 7316-1763 BS_EYXVNC69 A A c.83A>T p.Lys28Met p.K28M ENST00000366813 1/3 99 43 54 44 44 0 H3F3A,missense_variant,p.Lys28Met,ENST00000366814,;H3F3A,missense_variant,p.Lys28Met,ENST00000366813,;H3F3A,missense_variant,p.Lys28Met,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Lys28Met,ENST00000366816,;AL512343.2,upstream_gene_variant,,ENST00000609423,;,regulatory_region_variant,,ENSR00000021067,; T ENSG00000163041 ENST00000366813 Transcript missense_variant 458/1308 83/411 28/136 K/M aAg/aTg rs1057519903,COSM327928,COSM1961654 1 1 H3F3A HGNC HGNC:4764 protein_coding YES CCDS1550.1 ENSP00000355778 P84243 B2R4P9 UPI00000007B0 deleterious_low_confidence(0.01) possibly_damaging(0.697) 1/3 Gene3D:1.10.20.10,PDB-ENSP_mappings:3av2.A,PDB-ENSP_mappings:3av2.E,PDB-ENSP_mappings:3muk.D,PDB-ENSP_mappings:3wtp.E,PDB-ENSP_mappings:4h9n.A,PDB-ENSP_mappings:4h9o.A,PDB-ENSP_mappings:4h9p.A,PDB-ENSP_mappings:4h9q.A,PDB-ENSP_mappings:4h9r.A,PDB-ENSP_mappings:4h9s.A,PDB-ENSP_mappings:4h9s.B,PDB-ENSP_mappings:4hga.B,PDB-ENSP_mappings:4n4i.B,PDB-ENSP_mappings:5ay8.A,PDB-ENSP_mappings:5ay8.E,PDB-ENSP_mappings:5b32.A,PDB-ENSP_mappings:5b32.E,PDB-ENSP_mappings:5b33.A,PDB-ENSP_mappings:5b33.E,PDB-ENSP_mappings:5dwq.F,PDB-ENSP_mappings:5dwq.G,PDB-ENSP_mappings:5dx0.F,PDB-ENSP_mappings:5dx0.G,PDB-ENSP_mappings:5dx0.H,PDB-ENSP_mappings:5dx0.I,PDB-ENSP_mappings:5kdm.A,PDB-ENSP_mappings:5x7x.A,PDB-ENSP_mappings:5x7x.E,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,hmmpanther:PTHR11426:SF163,Superfamily_domains:SSF47113,mobidb-lite likely_pathogenic 1,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS AAG . . 226064434 ANKRD36B . GRCh38 chr2 97547555 97547556 + Frame_Shift_Ins INS - - T rs1487248270 7316-1763 BS_EYXVNC69 - - c.1559dup p.Asp520GlufsTer6 p.D520Efs*6 ENST00000258459 22/44 101 82 9 39 38 0 ANKRD36B,frameshift_variant,p.Asp172GlufsTer6,ENST00000438709,;ANKRD36B,frameshift_variant,p.Asp520GlufsTer6,ENST00000258459,NM_025190.3;ANKRD36B,frameshift_variant,p.Asp520GlufsTer6,ENST00000359901,;ANKRD36B,downstream_gene_variant,,ENST00000419390,;ANKRD36B,downstream_gene_variant,,ENST00000443455,; T ENSG00000196912 ENST00000258459 Transcript frameshift_variant 1839-1840/5986 1559-1560/4062 520/1353 D/EX gat/gaAt rs1487248270,TMP_ESP_2_98164019_98164018 1 -1 ANKRD36B HGNC HGNC:29333 protein_coding YES CCDS74543.1 ENSP00000481149 Q8N2N9 UPI000155D57B NM_025190.3 22/44 mobidb-lite,hmmpanther:PTHR24176:SF18,hmmpanther:PTHR24176 0.2908 0.5307 HIGH 1 insertion 5 PASS CAT . . 5.414e-06 1.404e-05 97547555 CCDC138 . GRCh38 chr2 108804881 108804881 + Splice_Region SNP C C T rs756420451 7316-1763 BS_EYXVNC69 C C c.736-8C>T ENST00000295124 44 38 5 25 25 0 CCDC138,splice_region_variant,,ENST00000295124,NM_001303106.1,NM_144978.2,NM_001351544.1,NM_001351545.1,NM_001351565.1,NM_001351548.1;CCDC138,splice_region_variant,,ENST00000412964,NM_001303105.1,NM_001351555.1,NM_001351554.1,NM_001351553.1;CCDC138,intron_variant,,ENST00000456512,;CCDC138,splice_region_variant,,ENST00000409529,; T ENSG00000163006 ENST00000295124 Transcript splice_region_variant,intron_variant rs756420451 1 1 CCDC138 HGNC HGNC:26531 protein_coding YES CCDS2080.1 ENSP00000295124 Q96M89 UPI000006E2CB NM_001303106.1,NM_144978.2,NM_001351544.1,NM_001351545.1,NM_001351565.1,NM_001351548.1 6/14 LOW 1 SNV 2 PASS TCC . . 1.154e-05 6.575e-05 1.137e-05 108804881 ITPR1 . GRCh38 chr3 4676790 4676790 + Nonsense_Mutation SNP G G T novel 7316-1763 BS_EYXVNC69 G G c.2911G>T p.Glu971Ter p.E971* ENST00000302640 23/61 76 63 12 24 24 0 ITPR1,stop_gained,p.Glu986Ter,ENST00000354582,;ITPR1,stop_gained,p.Glu971Ter,ENST00000302640,NM_001168272.1;ITPR1,stop_gained,p.Glu977Ter,ENST00000357086,NM_001099952.2;ITPR1,stop_gained,p.Glu962Ter,ENST00000456211,NM_002222.5;ITPR1,stop_gained,p.Glu971Ter,ENST00000443694,;ITPR1,intron_variant,,ENST00000544951,; T ENSG00000150995 ENST00000302640 Transcript stop_gained 3261/10197 2911/8232 971/2743 E/* Gag/Tag 1 1 ITPR1 HGNC HGNC:6180 protein_coding YES CCDS54551.1 ENSP00000306253 Q14643 UPI0000E5A461 NM_001168272.1 23/61 hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51 HIGH 1 SNV 5 1 PASS TGA . . 4676790 NKTR . GRCh38 chr3 42619092 42619092 + Missense_Mutation SNP A A G novel 7316-1763 BS_EYXVNC69 A A c.206A>G p.Lys69Arg p.K69R ENST00000232978 4/17 88 55 25 40 35 0 NKTR,missense_variant,p.Lys69Arg,ENST00000232978,NM_005385.3,NM_001349124.1;NKTR,missense_variant,p.Lys69Arg,ENST00000442970,;NKTR,missense_variant,p.Lys69Arg,ENST00000445842,;NKTR,5_prime_UTR_variant,,ENST00000617821,;AC006059.1,intron_variant,,ENST00000438017,;AC006059.1,intron_variant,,ENST00000445452,;NKTR,missense_variant,p.Lys69Arg,ENST00000429888,NM_001349126.1,NM_001349125.1;NKTR,non_coding_transcript_exon_variant,,ENST00000468735,;NKTR,non_coding_transcript_exon_variant,,ENST00000487466,;NKTR,non_coding_transcript_exon_variant,,ENST00000478488,;NKTR,upstream_gene_variant,,ENST00000465584,;NKTR,upstream_gene_variant,,ENST00000466553,; G ENSG00000114857 ENST00000232978 Transcript missense_variant 394/7343 206/4389 69/1462 K/R aAa/aGa 1 1 NKTR HGNC HGNC:7833 protein_coding YES CCDS2702.1 ENSP00000232978 P30414 A0A024R2N6 UPI00001301FD NM_005385.3,NM_001349124.1 deleterious_low_confidence(0.01) probably_damaging(0.998) 4/17 Gene3D:2.40.100.10,PDB-ENSP_mappings:2he9.A,PDB-ENSP_mappings:2he9.B,Pfam_domain:PF00160,Prints_domain:PR00153,PROSITE_patterns:PS00170,PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF257,Superfamily_domains:SSF50891 MODERATE 1 SNV 1 PASS AAA . . 42619092 FRG2C . GRCh38 chr3 75664404 75664404 + Missense_Mutation SNP G G A rs201766868 7316-1763 BS_EYXVNC69 G G c.25G>A p.Asp9Asn p.D9N ENST00000308062 1/4 136 98 35 56 54 2 FRG2C,missense_variant,p.Asp9Asn,ENST00000308062,NM_001124759.1;FRG2C,missense_variant,p.Asp9Asn,ENST00000464571,;RPL23AP49,intron_variant,,ENST00000638439,;,regulatory_region_variant,,ENSR00000304725,;DUX4L26,upstream_gene_variant,,ENST00000489078,; A ENSG00000172969 ENST00000308062 Transcript missense_variant 75/2078 25/849 9/282 D/N Gat/Aat rs201766868,COSM4158323 1 1 FRG2C HGNC HGNC:33626 protein_coding YES CCDS43108.1 ENSP00000312299 A6NGY1 UPI0000160BC9 NM_001124759.1 tolerated(0.17) probably_damaging(0.982) 1/4 mobidb-lite,hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF4,Prints_domain:PR02074 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 75664404 IQCB1 . GRCh38 chr3 121772704 121772704 + Missense_Mutation SNP T T C rs764720012 7316-1763 BS_EYXVNC69 T T c.1420A>G p.Met474Val p.M474V ENST00000310864 14/15 79 46 33 41 41 0 IQCB1,missense_variant,p.Met474Val,ENST00000310864,NM_001023570.3,NM_001319107.1;IQCB1,missense_variant,p.Met341Val,ENST00000349820,NM_001023571.3;IQCB1,3_prime_UTR_variant,,ENST00000393650,; C ENSG00000173226 ENST00000310864 Transcript missense_variant 1635/2594 1420/1797 474/598 M/V Atg/Gtg rs764720012 1 -1 IQCB1 HGNC HGNC:28949 protein_coding YES CCDS33837.1 ENSP00000311505 Q15051 UPI0000139154 NM_001023570.3,NM_001319107.1 tolerated(0.32) benign(0) 14/15 hmmpanther:PTHR15673 MODERATE 1 SNV 1 1 PASS ATT . . 5.687e-05 6.535e-05 0.0002382 5.798e-05 1.792e-05 0.0003646 121772704 EIF4E . GRCh38 chr4 98881150 98881150 + Splice_Region DEL A A - rs779529404 7316-1763 BS_EYXVNC69 A A c.633-8del ENST00000505992 52 36 8 42 36 0 EIF4E,splice_region_variant,,ENST00000280892,NM_001130678.1;EIF4E,splice_region_variant,,ENST00000450253,NM_001968.3;EIF4E,splice_region_variant,,ENST00000504432,;EIF4E,splice_region_variant,,ENST00000505992,NM_001130679.1;EIF4E,splice_region_variant,,ENST00000511644,;EIF4E,splice_region_variant,,ENST00000505194,;EIF4E,splice_region_variant,,ENST00000515638,;,regulatory_region_variant,,ENSR00000171031,; - ENSG00000151247 ENST00000505992 Transcript splice_region_variant,intron_variant rs779529404,COSM1619267 1 -1 EIF4E HGNC HGNC:3287 protein_coding YES CCDS54779.1 ENSP00000425561 P06730 UPI00017BAF0A NM_001130679.1 7/7 0,1 LOW 1 deletion 5 0,1 1 PASS AGAA . . 0.05577 0.02596 0.08106 0.05741 0.05811 0.03058 0.05996 0.0686 0.05201 98881149 PCDHB8 . GRCh38 chr5 141178631 141178631 + Missense_Mutation SNP A A C rs2950845 7316-1763 BS_EYXVNC69 A A c.597A>C p.Lys199Asn p.K199N ENST00000239444 1/1 48 17 31 69 57 11 PCDHB8,missense_variant,p.Lys199Asn,ENST00000239444,NM_019120.4;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;AC244517.6,upstream_gene_variant,,ENST00000623884,;PCDHB16,upstream_gene_variant,,ENST00000625044,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,downstream_gene_variant,,ENST00000624549,;AC244517.2,upstream_gene_variant,,ENST00000624802,;AC244517.8,intron_variant,,ENST00000623995,;AC244517.6,upstream_gene_variant,,ENST00000623407,;,regulatory_region_variant,,ENSR00000317579,; C ENSG00000120322 ENST00000239444 Transcript missense_variant 842/2740 597/2406 199/801 K/N aaA/aaC rs2950845,COSM6864084 1 1 PCDHB8 HGNC HGNC:8693 protein_coding YES CCDS4250.1 ENSP00000239444 Q9UN66 UPI000192C41A NM_019120.4 deleterious_low_confidence(0) probably_damaging(0.952) 1/1 Gene3D:2.60.350.10,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF150,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 0.0966 0.0166 0.0893 0.0913 0.1441 0.1667 0.04973 0.1503 0,1 MODERATE SNV 0,1 PASS AAG . . 0.1335 0.04081 0.06025 0.1487 0.078 0.195 0.1523 0.1376 0.1754 141178631 PCDHB8 . GRCh38 chr5 141178764 141178764 + Missense_Mutation SNP G C C rs2950844 7316-1763 BS_EYXVNC69 G G c.730G>C p.Glu244Gln p.E244Q ENST00000239444 1/1 57 14 41 68 54 13 PCDHB8,missense_variant,p.Glu244Gln,ENST00000239444,NM_019120.4;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;AC244517.6,upstream_gene_variant,,ENST00000623884,;PCDHB16,upstream_gene_variant,,ENST00000625044,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,downstream_gene_variant,,ENST00000624089,;AC244517.4,downstream_gene_variant,,ENST00000624549,;AC244517.2,upstream_gene_variant,,ENST00000624802,;AC244517.8,intron_variant,,ENST00000623995,;AC244517.6,upstream_gene_variant,,ENST00000623407,;,regulatory_region_variant,,ENSR00000317579,; C ENSG00000120322 ENST00000239444 Transcript missense_variant 975/2740 730/2406 244/801 E/Q Gag/Cag rs2950844,COSM1742249 1 1 PCDHB8 HGNC HGNC:8693 protein_coding YES CCDS4250.1 ENSP00000239444 Q9UN66 UPI000192C41A NM_019120.4 tolerated_low_confidence(0.3) benign(0.006) 1/1 Gene3D:2.60.350.10,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF150,Superfamily_domains:SSF49313 0.0968 0.0166 0.0879 0.0913 0.1451 0.1677 0.04857 0.1631 0,1 MODERATE SNV 0,1 PASS TGA . . 0.1339 0.03984 0.05954 0.1483 0.07824 0.1964 0.1531 0.1396 0.1759 141178764 VGLL2 . GRCh38 chr6 117270689 117270689 + Missense_Mutation SNP G G T novel 7316-1763 BS_EYXVNC69 G G c.538G>T p.Ala180Ser p.A180S ENST00000326274 3/4 76 70 6 30 29 0 VGLL2,missense_variant,p.Ala180Ser,ENST00000326274,NM_182645.3;VGLL2,intron_variant,,ENST00000352536,NM_153453.1;,regulatory_region_variant,,ENSR00000201716,; T ENSG00000170162 ENST00000326274 Transcript missense_variant 728/2212 538/954 180/317 A/S Gcc/Tcc 1 1 VGLL2 HGNC HGNC:20232 protein_coding YES CCDS5115.1 ENSP00000320957 Q8N8G2 UPI000006FF57 NM_182645.3 tolerated(0.43) benign(0.045) 3/4 hmmpanther:PTHR15950,hmmpanther:PTHR15950:SF17 MODERATE 1 SNV 1 PASS CGC . . 117270689 MUC3A . GRCh38 chr7 100959373 100959373 + Missense_Mutation SNP A A C rs28515787 7316-1763 BS_EYXVNC69 A A c.7594A>C p.Ile2532Leu p.I2532L ENST00000379458 2/12 143 92 46 53 45 7 MUC3A,missense_variant,p.Ile2532Leu,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Ile2532Leu,ENST00000483366,;AC254629.1,downstream_gene_variant,,ENST00000610769,;AC254629.1,downstream_gene_variant,,ENST00000618276,;MUC3A,missense_variant,p.Ile471Leu,ENST00000414964,; C ENSG00000169894 ENST00000379458 Transcript missense_variant 7664/11226 7594/9972 2532/3323 I/L Atc/Ctc rs28515787 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 deleterious_low_confidence(0.02) unknown(0) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,Low_complexity_(Seg):seg 0.1779 0.093 0.3775 0.3065 0.0964 0.1022 0.07591 0.09166 MODERATE SNV 5 PASS CAT . . 0.14 0.07844 0.3358 0.07553 0.2417 0.1166 0.08651 0.1448 0.1012 100959373 SMARCA2 . GRCh38 chr9 2115850 2115850 + Missense_Mutation SNP G G T 7316-1763 BS_EYXVNC69 G G c.3485G>T p.Arg1162Leu p.R1162L ENST00000382203 25/34 80 44 36 32 31 0 SMARCA2,missense_variant,p.Arg1162Leu,ENST00000382203,NM_001289396.1;SMARCA2,missense_variant,p.Arg1162Leu,ENST00000357248,NM_139045.3;SMARCA2,missense_variant,p.Arg1162Leu,ENST00000349721,NM_003070.4;SMARCA2,missense_variant,p.Arg1162Leu,ENST00000382194,;SMARCA2,missense_variant,p.Arg1104Leu,ENST00000450198,NM_001289397.1;SMARCA2,intron_variant,,ENST00000634772,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000635739,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000636157,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000638139,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000634925,;SMARCA2,missense_variant,p.Arg1162Leu,ENST00000634760,; T ENSG00000080503 ENST00000382203 Transcript missense_variant 3694/5867 3485/4773 1162/1590 R/L cGc/cTc CM122553,COSM1624852,COSM1624853,COSM3091892,COSM3091893 1 1 SMARCA2 HGNC HGNC:11098 protein_coding YES CCDS34977.1 ENSP00000371638 P51531 UPI00001AE8EB NM_001289396.1 deleterious(0) possibly_damaging(0.516) 25/34 Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541,SMART_domains:SM00490,Superfamily_domains:SSF52540,cd00079 0,1,1,1,1 MODERATE 1 SNV 1 1,1,1,1,1 1 PASS CGC . . 2115850 SLC46A2 . GRCh38 chr9 112889989 112889989 + Missense_Mutation SNP C C G novel 7316-1763 BS_EYXVNC69 C C c.693G>C p.Glu231Asp p.E231D ENST00000374228 1/4 89 47 42 59 59 0 SLC46A2,missense_variant,p.Glu231Asp,ENST00000374228,NM_033051.3;AL139041.1,downstream_gene_variant,,ENST00000605480,;SLC46A2,missense_variant,p.Glu231Asp,ENST00000491462,; G ENSG00000119457 ENST00000374228 Transcript missense_variant 925/2502 693/1428 231/475 E/D gaG/gaC 1 -1 SLC46A2 HGNC HGNC:16055 protein_coding YES CCDS6786.1 ENSP00000363345 Q9BY10 A0A024QYV1 UPI0000049F9E NM_033051.3 tolerated(0.35) benign(0.012) 1/4 hmmpanther:PTHR23507:SF3,hmmpanther:PTHR23507,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473 MODERATE 1 SNV 1 PASS ACT . . 112889989 NR6A1 . GRCh38 chr9 124524879 124524880 + Splice_Region INS - - A novel 7316-1763 BS_EYXVNC69 - - c.1202-7dup ENST00000487099 86 46 29 38 35 0 NR6A1,splice_region_variant,,ENST00000344523,;NR6A1,splice_region_variant,,ENST00000373584,NM_001278546.1;NR6A1,splice_region_variant,,ENST00000416460,NM_001489.4;NR6A1,splice_region_variant,,ENST00000487099,NM_033334.3; A ENSG00000148200 ENST00000487099 Transcript splice_region_variant,intron_variant 1 -1 NR6A1 HGNC HGNC:7985 protein_coding YES CCDS35137.1 ENSP00000420267 Q15406 F1D8S0 UPI0000130484 NM_033334.3 8/9 LOW 1 insertion 1 PASS GGA . . 124524879 UBQLNL . GRCh38 chr11 5516378 5516378 + Missense_Mutation SNP C C A novel 7316-1763 BS_EYXVNC69 C C c.64G>T p.Ala22Ser p.A22S ENST00000380184 1/1 76 61 15 26 26 0 UBQLNL,missense_variant,p.Ala22Ser,ENST00000380184,NM_145053.4;AC104389.4,intron_variant,,ENST00000380259,;OLFM5P,downstream_gene_variant,,ENST00000411807,; A ENSG00000175518 ENST00000380184 Transcript missense_variant 328/2313 64/1428 22/475 A/S Gca/Tca 1 -1 UBQLNL HGNC HGNC:28294 protein_coding YES CCDS31385.1 ENSP00000369531 Q8IYU4 UPI000066D8EC NM_145053.4 tolerated(0.22) benign(0.115) 1/1 Gene3D:3.10.20.90,hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF9,Superfamily_domains:SSF54236 MODERATE SNV PASS GCC . . 5516378 RPUSD4 . GRCh38 chr11 126209665 126209665 + Missense_Mutation SNP A A T novel 7316-1763 BS_EYXVNC69 A A c.413T>A p.Leu138His p.L138H ENST00000298317 3/7 70 63 5 35 33 0 RPUSD4,missense_variant,p.Leu138His,ENST00000298317,NM_032795.2;RPUSD4,missense_variant,p.Leu138His,ENST00000533628,NM_001144827.1;RPUSD4,missense_variant,p.Leu138His,ENST00000532674,;FAM118B,upstream_gene_variant,,ENST00000360194,;FAM118B,upstream_gene_variant,,ENST00000528985,;FAM118B,upstream_gene_variant,,ENST00000529731,;FAM118B,upstream_gene_variant,,ENST00000530043,;FAM118B,upstream_gene_variant,,ENST00000533050,NM_024556.3;FAM118B,upstream_gene_variant,,ENST00000627851,;RNU4-86P,downstream_gene_variant,,ENST00000410135,;AP001893.1,upstream_gene_variant,,ENST00000532866,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000534393,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000530036,;FAM118B,upstream_gene_variant,,ENST00000525728,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000526942,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000532800,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000525812,;RPUSD4,upstream_gene_variant,,ENST00000530903,; T ENSG00000165526 ENST00000298317 Transcript missense_variant 467/2512 413/1134 138/377 L/H cTt/cAt 1 -1 RPUSD4 HGNC HGNC:25898 protein_coding YES CCDS8469.1 ENSP00000298317 Q96CM3 UPI0000071274 NM_032795.2 deleterious(0.03) benign(0.363) 3/7 Gene3D:3.30.2350.10,Pfam_domain:PF00849,hmmpanther:PTHR44389,Superfamily_domains:SSF55120,cd02869 MODERATE 1 SNV 1 PASS AAG . . 126209665 ATXN3 . GRCh38 chr14 92096121 92096121 + Missense_Mutation SNP A A G novel 7316-1763 BS_EYXVNC69 A A c.206T>C p.Met69Thr p.M69T ENST00000558190 3/11 69 53 8 33 31 0 ATXN3,missense_variant,p.Met69Thr,ENST00000545170,;ATXN3,missense_variant,p.Met69Thr,ENST00000558190,NM_001164778.1,NM_004993.5;ATXN3,missense_variant,p.Met69Thr,ENST00000644486,;ATXN3,missense_variant,p.Met69Thr,ENST00000393287,NM_001127697.2;ATXN3,missense_variant,p.Met14Thr,ENST00000340660,NM_030660.4;ATXN3,missense_variant,p.Met69Thr,ENST00000532032,;ATXN3,missense_variant,p.Met69Thr,ENST00000617719,;ATXN3,missense_variant,p.Met69Thr,ENST00000620536,;ATXN3,missense_variant,p.Met68Thr,ENST00000554592,;ATXN3,missense_variant,p.Met69Thr,ENST00000621269,;ATXN3,missense_variant,p.Met69Thr,ENST00000553491,;ATXN3,missense_variant,p.Met14Thr,ENST00000556220,;ATXN3,missense_variant,p.Met64Thr,ENST00000526872,;ATXN3,5_prime_UTR_variant,,ENST00000554672,;ATXN3,intron_variant,,ENST00000429774,NM_001164779.1,NM_001164781.1;ATXN3,intron_variant,,ENST00000502250,NM_001164780.1;ATXN3,intron_variant,,ENST00000503767,NM_001127696.1;ATXN3,intron_variant,,ENST00000506466,;ATXN3,intron_variant,,ENST00000555381,;ATXN3,intron_variant,,ENST00000557311,;ATXN3,non_coding_transcript_exon_variant,,ENST00000554491,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553309,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553498,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553686,;ATXN3,non_coding_transcript_exon_variant,,ENST00000555958,;ATXN3,non_coding_transcript_exon_variant,,ENST00000554214,;ATXN3,non_coding_transcript_exon_variant,,ENST00000554040,;ATXN3,non_coding_transcript_exon_variant,,ENST00000511362,;ATXN3,non_coding_transcript_exon_variant,,ENST00000556339,;ATXN3,non_coding_transcript_exon_variant,,ENST00000504047,;ATXN3,non_coding_transcript_exon_variant,,ENST00000556644,;ATXN3,intron_variant,,ENST00000553287,;ATXN3,missense_variant,p.Met69Thr,ENST00000359366,;ATXN3,missense_variant,p.Met69Thr,ENST00000647161,;ATXN3,missense_variant,p.Met69Thr,ENST00000556374,;ATXN3,missense_variant,p.Met69Thr,ENST00000553488,;ATXN3,missense_variant,p.Met69Thr,ENST00000556898,;ATXN3,missense_variant,p.Met69Thr,ENST00000554673,;ATXN3,missense_variant,p.Met69Thr,ENST00000554350,;ATXN3,missense_variant,p.Met69Thr,ENST00000554994,;ATXN3,missense_variant,p.Met69Thr,ENST00000556671,;ATXN3,missense_variant,p.Met69Thr,ENST00000556274,;ATXN3,missense_variant,p.Met69Thr,ENST00000556288,;ATXN3,missense_variant,p.Met68Thr,ENST00000556315,;ATXN3,missense_variant,p.Met69Thr,ENST00000556958,;ATXN3,missense_variant,p.Met69Thr,ENST00000555816,;ATXN3,missense_variant,p.Met14Thr,ENST00000553570,;ATXN3,missense_variant,p.Met69Thr,ENST00000515746,;ATXN3,missense_variant,p.Met69Thr,ENST00000556082,;ATXN3,5_prime_UTR_variant,,ENST00000646485,;ATXN3,non_coding_transcript_exon_variant,,ENST00000507965,;ATXN3,intron_variant,,ENST00000557030,;ATXN3,downstream_gene_variant,,ENST00000454964,; G ENSG00000066427 ENST00000558190 Transcript missense_variant 279/6927 206/1086 69/361 M/T aTg/aCg 1 -1 ATXN3 HGNC HGNC:7106 protein_coding YES CCDS9900.1 ENSP00000478320 P54252 UPI000013D23A NM_001164778.1,NM_004993.5 deleterious(0) probably_damaging(0.982) 3/11 PROSITE_profiles:PS50957,hmmpanther:PTHR14159:SF1,hmmpanther:PTHR14159,Gene3D:1.10.287.10,Pfam_domain:PF02099,SMART_domains:SM01246,Prints_domain:PR01233 MODERATE 1 SNV 1 1 PASS CAT . . 92096121 GOLGA6L2 . GRCh38 chr15 23440942 23440944 + In_Frame_Del DEL CTC CTC - rs779250776 7316-1763 BS_EYXVNC69 CTC CTC c.1531_1533del p.Glu511del p.E511del ENST00000567107 8/8 61 49 7 37 31 0 GOLGA6L2,inframe_deletion,p.Glu511del,ENST00000567107,NM_001304388.1;GOLGA6L2,inframe_deletion,p.Glu238del,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; - ENSG00000174450 ENST00000567107 Transcript inframe_deletion 1584-1586/3030 1531-1533/2730 511/909 E/- GAG/- rs779250776,COSM4589969,COSM4589968,COSM4589967 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 8/8 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21 0,1,1,1 MODERATE 1 deletion 5 0,1,1,1 PASS TTCTCC . . 4.286e-05 0.0005639 4.249e-05 4.439e-05 23440941 MEX3B . GRCh38 chr15 82044065 82044065 + Missense_Mutation SNP T T G rs780065951 7316-1763 BS_EYXVNC69 T T c.805A>C p.Thr269Pro p.T269P ENST00000329713 2/2 97 56 34 30 26 2 MEX3B,missense_variant,p.Thr269Pro,ENST00000329713,NM_032246.4;MEX3B,3_prime_UTR_variant,,ENST00000558133,; G ENSG00000183496 ENST00000329713 Transcript missense_variant 1241/3528 805/1710 269/569 T/P Acc/Ccc rs780065951,COSM6241326 1 -1 MEX3B HGNC HGNC:25297 protein_coding YES CCDS10319.1 ENSP00000329918 Q6ZN04 UPI00001982CC NM_032246.4 tolerated(0.45) benign(0) 2/2 hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF5,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.002608 0.001784 0.002072 0.0018 0.001387 0.002118 0.003277 0.001953 0.002711 82044065 ACAN . GRCh38 chr15 88857731 88857731 + Missense_Mutation SNP A A T novel 7316-1763 BS_EYXVNC69 A A c.5146A>T p.Ser1716Cys p.S1716C ENST00000439576 12/18 109 52 56 36 36 0 ACAN,missense_variant,p.Ser1716Cys,ENST00000560601,;ACAN,missense_variant,p.Ser1716Cys,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Ser1697Cys,ENST00000617301,;ACAN,missense_variant,p.Ser1716Cys,ENST00000559004,;ACAN,missense_variant,p.Ser1716Cys,ENST00000561243,;ACAN,missense_variant,p.Ser1716Cys,ENST00000352105,NM_001135.3; T ENSG00000157766 ENST00000439576 Transcript missense_variant 5520/8840 5146/7593 1716/2530 S/C Agt/Tgt 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 deleterious(0) probably_damaging(0.998) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42,mobidb-lite MODERATE 1 SNV 5 1 PASS CAG . . 88857731 TEKT1 . GRCh38 chr17 6812865 6812865 + Missense_Mutation SNP T C C rs36080937 7316-1763 BS_EYXVNC69 T T c.818A>G p.Asp273Gly p.D273G ENST00000338694 6/8 89 6 81 35 27 7 TEKT1,missense_variant,p.Asp273Gly,ENST00000338694,NM_053285.1;TEKT1,missense_variant,p.Asp69Gly,ENST00000572291,;TEKT1,missense_variant,p.Asp51Gly,ENST00000571744,;TEKT1,3_prime_UTR_variant,,ENST00000575592,;TEKT1,downstream_gene_variant,,ENST00000573966,; C ENSG00000167858 ENST00000338694 Transcript missense_variant 948/3421 818/1257 273/418 D/G gAt/gGt rs36080937 1 -1 TEKT1 HGNC HGNC:15534 protein_coding YES CCDS11083.1 ENSP00000341346 Q969V4 UPI0000136BA9 NM_053285.1 tolerated(0.09) benign(0.049) 6/8 Gene3D:1.20.5.50,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03148,hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF25 0.0006 0.0008 0.002 0.0004539 0.001744 MODERATE 1 SNV 1 PASS ATC . . 0.001239 0.0003268 0.0002085 0.002608 0.002016 0.001825 6812865 TP53 . GRCh38 chr17 7674894 7674894 + Nonsense_Mutation SNP G A A rs397516436 7316-1763 BS_EYXVNC69 G G c.637C>T p.Arg213Ter p.R213* ENST00000269305 6/11 97 12 84 40 40 0 TP53,stop_gained,p.Arg213Ter,ENST00000617185,NM_001126114.2;TP53,stop_gained,p.Arg213Ter,ENST00000420246,;TP53,stop_gained,p.Arg174Ter,ENST00000622645,NM_001276696.1;TP53,stop_gained,p.Arg174Ter,ENST00000610292,NM_001126118.1;TP53,stop_gained,p.Arg213Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Arg174Ter,ENST00000610538,;TP53,stop_gained,p.Arg213Ter,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,stop_gained,p.Arg174Ter,ENST00000620739,;TP53,stop_gained,p.Arg213Ter,ENST00000445888,;TP53,stop_gained,p.Arg174Ter,ENST00000619485,;TP53,stop_gained,p.Arg81Ter,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,stop_gained,p.Arg54Ter,ENST00000618944,;TP53,stop_gained,p.Arg81Ter,ENST00000504290,;TP53,stop_gained,p.Arg54Ter,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,stop_gained,p.Arg81Ter,ENST00000504937,;TP53,stop_gained,p.Arg54Ter,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,stop_gained,p.Arg213Ter,ENST00000359597,;TP53,stop_gained,p.Arg202Ter,ENST00000615910,;TP53,stop_gained,p.Arg213Ter,ENST00000413465,;TP53,stop_gained,p.Arg81Ter,ENST00000509690,;TP53,stop_gained,p.Arg120Ter,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,intron_variant,,ENST00000574684,;TP53,stop_gained,p.Arg174Ter,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,; A ENSG00000141510 ENST00000269305 Transcript stop_gained 827/2579 637/1182 213/393 R/* Cga/Tga rs397516436,CM951226,COSM99618,COSM99617,COSM99616,COSM99615,COSM707891,COSM707890,COSM707889,COSM707888,COSM6503267,COSM6474343,COSM6474342,COSM6474341,COSM6474340,COSM6474339,COSM6474338,COSM4862567,COSM4862566,COSM44102,COSM43807,COSM43798,COSM3378350,COSM1638393,COSM10654 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 6/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 likely_pathogenic,pathogenic 0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 24033266,9667734,16401470,20522432,11479205,7887414,8134126,10486318,16534790,21225465,21552135,21626334,22203015 HIGH 1 SNV 1 1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1 1 PASS CGA . . 7674894 USP43 . GRCh38 chr17 9656454 9656454 + Missense_Mutation SNP G A A rs1156460406 7316-1763 BS_EYXVNC69 G G c.556G>A p.Ala186Thr p.A186T ENST00000285199 2/15 85 5 80 34 33 0 USP43,missense_variant,p.Ala186Thr,ENST00000285199,NM_153210.4;USP43,missense_variant,p.Ala186Thr,ENST00000570475,NM_001267576.1;USP43,synonymous_variant,p.Thr7=,ENST00000574408,;USP43,non_coding_transcript_exon_variant,,ENST00000570827,; A ENSG00000154914 ENST00000285199 Transcript missense_variant 652/4169 556/3372 186/1123 A/T Gcc/Acc rs1156460406,COSM6295936,COSM271977 1 1 USP43 HGNC HGNC:20072 protein_coding YES CCDS45610.1 ENSP00000285199 Q70EL4 UPI0000047AFB NM_153210.4 deleterious(0) probably_damaging(0.995) 2/15 Gene3D:3.90.70.10,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR44148,hmmpanther:PTHR44148:SF1,Superfamily_domains:SSF54001 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGC . . 9656454 KRTAP4-16 . GRCh38 chr17 41101746 41101746 + Missense_Mutation SNP T T G rs1215386394 7316-1763 BS_EYXVNC69 T T c.464A>C p.His155Pro p.H155P ENST00000440582 1/1 63 44 16 19 17 0 KRTAP4-16,missense_variant,p.His155Pro,ENST00000440582,;KRTAP4-8,upstream_gene_variant,,ENST00000318329,;KRTAP4-8,upstream_gene_variant,,ENST00000333822,NM_031960.2;KRTAP4-9,upstream_gene_variant,,ENST00000391415,NM_001146041.1;KRTAP4-9,upstream_gene_variant,,ENST00000617453,; G ENSG00000241241 ENST00000440582 Transcript missense_variant 464/708 464/708 155/235 H/P cAc/cCc rs1215386394 1 -1 KRTAP4-16 HGNC HGNC:18921 protein_coding YES ENSP00000411198 G5E9R7 UPI0000E59F68 deleterious(0) unknown(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF37 MODERATE 1 SNV PASS GTG . . 2.656e-05 9.984e-05 3.454e-05 4.383e-05 41101746 MAST1 . GRCh38 chr19 12864811 12864811 + Missense_Mutation SNP G G A rs776692754 7316-1763 BS_EYXVNC69 G G c.1369G>A p.Gly457Ser p.G457S ENST00000251472 13/26 81 44 36 45 45 0 MAST1,missense_variant,p.Gly457Ser,ENST00000251472,NM_014975.2;HOOK2,intron_variant,,ENST00000589765,;MAST1,splice_region_variant,,ENST00000589040,;MAST1,upstream_gene_variant,,ENST00000590553,;,regulatory_region_variant,,ENSR00000287490,;,TF_binding_site_variant,,MA0139.1,; A ENSG00000105613 ENST00000251472 Transcript missense_variant,splice_region_variant 1408/4833 1369/4713 457/1570 G/S Ggc/Agc rs776692754 1 1 MAST1 HGNC HGNC:19034 protein_coding YES CCDS32921.1 ENSP00000251472 Q9Y2H9 UPI000004A042 NM_014975.2 deleterious(0) probably_damaging(1) 13/26 PROSITE_profiles:PS50011,cd05609,hmmpanther:PTHR24356:SF150,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 PASS CGG . . 4.067e-06 8.959e-06 12864811 RYR1 . GRCh38 chr19 38457549 38457549 + Missense_Mutation SNP C C G rs752789311 7316-1763 BS_EYXVNC69 C C c.1844C>G p.Ser615Cys p.S615C ENST00000359596 17/106 80 68 12 28 28 0 RYR1,missense_variant,p.Ser615Cys,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Ser615Cys,ENST00000359596,NM_000540.2; G ENSG00000196218 ENST00000359596 Transcript missense_variant 1844/15117 1844/15117 615/5038 S/C tCc/tGc rs752789311 1 1 RYR1 HGNC HGNC:10483 protein_coding YES CCDS33011.1 ENSP00000352608 P21817 UPI0000D7E62F NM_000540.2 deleterious(0) probably_damaging(0.993) 17/106 PROSITE_profiles:PS50188,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF01365 MODERATE 1 SNV 5 1 PASS TCC . . 4.061e-06 5.798e-05 38457549 CABP5 . GRCh38 chr19 48043853 48043853 + Splice_Region SNP A A C rs1475826740 7316-1763 BS_EYXVNC69 A A c.63+7T>G ENST00000293255 68 48 7 38 38 0 CABP5,splice_region_variant,,ENST00000293255,NM_019855.4;PLA2G4C,downstream_gene_variant,,ENST00000354276,NM_001159323.1;PLA2G4C,downstream_gene_variant,,ENST00000599111,NM_001159322.1;PLA2G4C,downstream_gene_variant,,ENST00000599921,NM_003706.2;CABP5,splice_region_variant,,ENST00000602032,;PLA2G4C,downstream_gene_variant,,ENST00000594790,; C ENSG00000105507 ENST00000293255 Transcript splice_region_variant,intron_variant rs1475826740 1 -1 CABP5 HGNC HGNC:13714 protein_coding YES CCDS12709.1 ENSP00000293255 Q9NP86 UPI0000126D6A NM_019855.4 1/5 LOW 1 SNV 1 PASS CAC . . 48043853 GP6 . GRCh38 chr19 55014972 55014972 + Missense_Mutation SNP C C A novel 7316-1763 BS_EYXVNC69 C C c.973G>T p.Gly325Trp p.G325W ENST00000310373 8/8 84 54 21 52 50 0 GP6,missense_variant,p.Gly325Trp,ENST00000310373,NM_001083899.2;GP6,synonymous_variant,p.Gly323=,ENST00000417454,NM_016363.5;GP6,synonymous_variant,p.Gly305=,ENST00000333884,NM_001256017.2;AC011476.3,intron_variant,,ENST00000586845,;AC011476.3,intron_variant,,ENST00000593060,;GP6,non_coding_transcript_exon_variant,,ENST00000465648,; A ENSG00000088053 ENST00000310373 Transcript missense_variant 1001/2268 973/1863 325/620 G/W Ggg/Tgg 1 -1 GP6 HGNC HGNC:14388 protein_coding YES CCDS42626.1 ENSP00000308782 Q9HCN6 UPI000013C631 NM_001083899.2 deleterious_low_confidence(0) possibly_damaging(0.609) 8/8 mobidb-lite MODERATE 1 SNV 1 1 PASS CCC . . 55014972 IL17RA . GRCh38 chr22 17109612 17109612 + Missense_Mutation SNP C C T novel 7316-1763 BS_EYXVNC69 C C c.2393C>T p.Ser798Phe p.S798F ENST00000319363 13/13 74 46 26 38 37 0 IL17RA,missense_variant,p.Ser798Phe,ENST00000319363,NM_014339.6;IL17RA,missense_variant,p.Ser764Phe,ENST00000612619,NM_001289905.1; T ENSG00000177663 ENST00000319363 Transcript missense_variant 2526/8607 2393/2601 798/866 S/F tCc/tTc 1 1 IL17RA HGNC HGNC:5985 protein_coding YES CCDS13739.1 ENSP00000320936 Q96F46 UPI000005031F NM_014339.6 deleterious(0) probably_damaging(0.997) 13/13 mobidb-lite MODERATE 1 SNV 1 1 PASS TCC . . 17109612 CHST7 . GRCh38 chrX 46575235 46575235 + Missense_Mutation SNP G G A novel 7316-1763 BS_EYXVNC69 G G c.1304G>A p.Arg435His p.R435H ENST00000276055 1/2 95 87 8 39 39 0 CHST7,missense_variant,p.Arg435His,ENST00000276055,NM_019886.3;,regulatory_region_variant,,ENSR00000246338,; A ENSG00000147119 ENST00000276055 Transcript missense_variant 1452/2289 1304/1461 435/486 R/H cGc/cAc 1 1 CHST7 HGNC HGNC:13817 protein_coding YES CCDS14268.1 ENSP00000276055 Q9NS84 UPI000000DADD NM_019886.3 deleterious(0) probably_damaging(0.99) 1/2 Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF5,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS CGC . . 46575235 FRMPD3 . GRCh38 chrX 107550131 107550131 + Missense_Mutation SNP C C T rs780768090 7316-1763 BS_EYXVNC69 C C c.584C>T p.Thr195Ile p.T195I ENST00000276185 7/16 78 65 13 50 50 0 FRMPD3,missense_variant,p.Thr195Ile,ENST00000276185,NM_032428.1;FRMPD3,missense_variant,p.Thr143Ile,ENST00000439554,;FRMPD3-AS1,upstream_gene_variant,,ENST00000415252,;FRMPD3,non_coding_transcript_exon_variant,,ENST00000477796,; T ENSG00000147234 ENST00000276185 Transcript missense_variant 584/7304 584/5433 195/1810 T/I aCa/aTa rs780768090 1 1 FRMPD3 HGNC HGNC:29382 protein_coding YES CCDS76006.1 ENSP00000276185 Q5JV73 UPI00006C1C33 NM_032428.1 deleterious(0.01) possibly_damaging(0.734) 7/16 PROSITE_profiles:PS50057,hmmpanther:PTHR45533,Gene3D:3.10.20.90,SMART_domains:SM00295,Superfamily_domains:SSF54236 MODERATE SNV 5 PASS ACA . . 107550131 SRPK3 . GRCh38 chrX 153782163 153782163 + Missense_Mutation SNP G G T novel 7316-1763 BS_EYXVNC69 G G c.430G>T p.Val144Phe p.V144F ENST00000370101 5/15 82 71 10 54 53 0 SRPK3,missense_variant,p.Val211Phe,ENST00000489426,;SRPK3,missense_variant,p.Val144Phe,ENST00000370101,NM_014370.3;SRPK3,missense_variant,p.Val144Phe,ENST00000393786,NM_001170761.1;SRPK3,missense_variant,p.Val144Phe,ENST00000370108,;SRPK3,missense_variant,p.Val144Phe,ENST00000370104,NM_001170760.1;SRPK3,missense_variant,p.Val102Phe,ENST00000370100,;SRPK3,missense_variant,p.Val158Phe,ENST00000430541,;IDH3G,downstream_gene_variant,,ENST00000217901,NM_004135.3;PLXNB3,downstream_gene_variant,,ENST00000361971,NM_005393.2;IDH3G,downstream_gene_variant,,ENST00000370092,NM_174869.2;IDH3G,downstream_gene_variant,,ENST00000370093,;IDH3G,downstream_gene_variant,,ENST00000427365,;IDH3G,downstream_gene_variant,,ENST00000444338,;IDH3G,downstream_gene_variant,,ENST00000444450,;PLXNB3,downstream_gene_variant,,ENST00000448847,;IDH3G,downstream_gene_variant,,ENST00000454076,;SRPK3,upstream_gene_variant,,ENST00000458681,;PLXNB3,downstream_gene_variant,,ENST00000538966,NM_001163257.1;IDH3G,downstream_gene_variant,,ENST00000619865,;PLXNB3,downstream_gene_variant,,ENST00000469190,;PLXNB3,downstream_gene_variant,,ENST00000472415,;PLXNB3,downstream_gene_variant,,ENST00000485980,;IDH3G,downstream_gene_variant,,ENST00000497043,;,regulatory_region_variant,,ENSR00000249597,; T ENSG00000184343 ENST00000370101 Transcript missense_variant 476/1958 430/1704 144/567 V/F Gtc/Ttc 1 1 SRPK3 HGNC HGNC:11402 protein_coding YES CCDS35441.1 ENSP00000359119 Q9UPE1 UPI000050571A NM_014370.3 deleterious(0) probably_damaging(0.988) 5/15 Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF100,SMART_domains:SM00220,Superfamily_domains:SSF56112,cd14218 MODERATE 1 SNV 1 PASS TGT . . 153782163 DNASE1L1 . GRCh38 chrX 154405655 154405655 + Splice_Region SNP G G A novel 7316-1763 BS_EYXVNC69 G G c.-87C>T ENST00000369809 4/10 82 70 12 22 22 0 DNASE1L1,splice_region_variant,,ENST00000369809,NM_001009932.2;DNASE1L1,splice_region_variant,,ENST00000369808,NM_006730.3;DNASE1L1,splice_region_variant,,ENST00000393638,NM_001009934.2;DNASE1L1,splice_region_variant,,ENST00000014935,;DNASE1L1,splice_region_variant,,ENST00000309585,NM_001009933.2;DNASE1L1,splice_region_variant,,ENST00000369807,NM_001303620.1;DNASE1L1,splice_region_variant,,ENST00000424626,;DNASE1L1,splice_region_variant,,ENST00000451865,;DNASE1L1,splice_region_variant,,ENST00000432135,;RPL10,intron_variant,,ENST00000428169,;RPL10,downstream_gene_variant,,ENST00000344746,NM_001303626.1,NM_001303624.1;RPL10,downstream_gene_variant,,ENST00000369817,;RPL10,downstream_gene_variant,,ENST00000406022,;DNASE1L1,upstream_gene_variant,,ENST00000412184,;RPL10,downstream_gene_variant,,ENST00000424325,NM_001303625.1,NM_006013.4;RPL10,downstream_gene_variant,,ENST00000427682,;RPL10,downstream_gene_variant,,ENST00000436473,;DNASE1L1,upstream_gene_variant,,ENST00000447892,;RPL10,downstream_gene_variant,,ENST00000449494,;RPL10,downstream_gene_variant,,ENST00000451365,;RPL10,downstream_gene_variant,,ENST00000458500,NM_001256577.2;RPL10,downstream_gene_variant,,ENST00000618723,NM_001256580.2;RPL10,downstream_gene_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000482732,;RPL10,downstream_gene_variant,,ENST00000485196,;RPL10,downstream_gene_variant,,ENST00000489200,;RPL10,downstream_gene_variant,,ENST00000491035,;RPL10,downstream_gene_variant,,ENST00000492572,;DNASE1L1,upstream_gene_variant,,ENST00000497242,; A ENSG00000013563 ENST00000369809 Transcript splice_region_variant,5_prime_UTR_variant 544/3008 1 -1 DNASE1L1 HGNC HGNC:2957 protein_coding YES CCDS14747.1 ENSP00000358824 P49184 UPI0000129891 NM_001009932.2 4/10 LOW SNV 5 PASS CGC . . 154405655 MT-ND5 . GRCh38 chrM 12779 12779 + Missense_Mutation SNP G G A novel 7316-1763 BS_EYXVNC69 G G c.443G>A p.Gly148Glu p.G148E ENST00000361567 1/1 19267 17601 1470 3779 3724 3 MT-ND5,missense_variant,p.Gly148Glu,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339370,; A ENSG00000198786 ENST00000361567 Transcript missense_variant 443/1812 443/1812 148/603 G/E gGa/gAa 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D deleterious_low_confidence(0) probably_damaging(1) 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF00361,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS GGA . . 12779 LRRIQ3 . GRCh38 chr1 74109528 74109529 + Frame_Shift_Ins INS - - T rs761276681 7316-2154 BS_2EAATK5V - - c.732dup p.Gln245ThrfsTer7 p.Q245Tfs*7 ENST00000354431 5/8 85 68 8 39 37 0 LRRIQ3,frameshift_variant,p.Gln245ThrfsTer7,ENST00000354431,NM_001322315.1,NM_001105659.1;LRRIQ3,frameshift_variant,p.Gln245ThrfsTer7,ENST00000395089,;LRRIQ3,frameshift_variant,p.Gln137ThrfsTer7,ENST00000370909,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000468759,;LRRIQ3,frameshift_variant,p.Gln245ThrfsTer7,ENST00000415760,; T ENSG00000162620 ENST00000354431 Transcript frameshift_variant 924-925/2849 732-733/1875 244-245/624 -/X -/A rs761276681 1 -1 LRRIQ3 HGNC HGNC:28318 protein_coding YES CCDS41350.1 ENSP00000346414 A6PVS8 UPI000155D493 NM_001322315.1,NM_001105659.1 5/8 hmmpanther:PTHR10552,Gene3D:3.80.10.10 HIGH 1 insertion 5 PASS TGT . . 0.01628 0.02398 0.03162 0.01836 0.03599 0.007446 0.01161 0.02223 0.01647 74109528 C2orf16 . GRCh38 chr2 27581631 27581631 + Missense_Mutation SNP T T C rs111990784 7316-2154 BS_2EAATK5V T T c.5059T>C p.Cys1687Arg p.C1687R ENST00000408964 1/1 55 42 10 39 35 1 C2orf16,missense_variant,p.Cys5091Arg,ENST00000447166,;C2orf16,missense_variant,p.Cys1687Arg,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; C ENSG00000221843 ENST00000408964 Transcript missense_variant 5110/6200 5059/5955 1687/1984 C/R Tgc/Cgc rs111990784,COSM5037764,COSM5037763 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(0.53) benign(0) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE SNV 0,1,1 PASS TTG . . 2.519e-05 0.0001281 3.654e-05 27581631 AC007179.2 . GRCh38 chr2 59384624 59384624 + Splice_Region SNP C C A novel 7316-2154 BS_2EAATK5V C C n.474G>T ENST00000444001 2/4 70 56 14 37 37 0 AC007179.2,splice_region_variant,,ENST00000444001,;AC007179.2,intron_variant,,ENST00000412409,;AC007179.2,intron_variant,,ENST00000434611,;AC007100.1,intron_variant,,ENST00000606382,; A ENSG00000233891 ENST00000444001 Transcript splice_region_variant,non_coding_transcript_exon_variant 474/765 1 -1 AC007179.2 Clone_based_ensembl_gene lincRNA YES 2/4 LOW 1 SNV 3 PASS CCT . . 59384624 GCC2 . GRCh38 chr2 108481691 108481691 + Splice_Region SNP T T C rs1174490806 7316-2154 BS_2EAATK5V T T c.3061-6T>C ENST00000309863 78 67 10 42 42 0 GCC2,splice_region_variant,,ENST00000309863,NM_181453.3;GCC2,splice_region_variant,,ENST00000482325,;GCC2,intron_variant,,ENST00000447558,;GCC2,upstream_gene_variant,,ENST00000393321,;GCC2,upstream_gene_variant,,ENST00000481729,; C ENSG00000135968 ENST00000309863 Transcript splice_region_variant,intron_variant rs1174490806 1 1 GCC2 HGNC HGNC:23218 protein_coding YES CCDS33268.1 ENSP00000307939 Q8IWJ2 UPI000049DF0C NM_181453.3 9/22 LOW 1 SNV 5 PASS ATT . . 4.618e-06 0.0001264 108481691 SEC62 . GRCh38 chr3 169982859 169982859 + Missense_Mutation SNP C C A rs1336277507 7316-2154 BS_2EAATK5V C C c.404C>A p.Thr135Lys p.T135K ENST00000337002 4/8 88 78 9 44 42 2 SEC62,missense_variant,p.Thr135Lys,ENST00000337002,NM_003262.3;SEC62,missense_variant,p.Thr135Lys,ENST00000480708,;SEC62-AS1,intron_variant,,ENST00000479626,;SEC62,upstream_gene_variant,,ENST00000470355,;SEC62,3_prime_UTR_variant,,ENST00000469515,;SEC62,3_prime_UTR_variant,,ENST00000460513,;SEC62,non_coding_transcript_exon_variant,,ENST00000481435,;SEC62,non_coding_transcript_exon_variant,,ENST00000497277,;SEC62,upstream_gene_variant,,ENST00000469890,;SEC62,downstream_gene_variant,,ENST00000487736,; A ENSG00000008952 ENST00000337002 Transcript missense_variant 462/6568 404/1200 135/399 T/K aCa/aAa rs1336277507 1 1 SEC62 HGNC HGNC:11846 protein_coding YES CCDS3210.1 ENSP00000337688 Q99442 UPI000007186C NM_003262.3 tolerated(1) benign(0) 4/8 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12443,Pfam_domain:PF03839,Gene3D:1.10.10.10 MODERATE 1 SNV 1 PASS ACA . . 0.01648 0.01662 0.0263 0.01265 0.06347 0.002643 0.01459 0.02325 0.00823 169982859 ANKRD55 . GRCh38 chr5 56111499 56111499 + Missense_Mutation SNP G G T 7316-2154 BS_2EAATK5V G G c.1249C>A p.Leu417Ile p.L417I ENST00000341048 10/12 63 56 7 29 29 0 ANKRD55,missense_variant,p.Leu417Ile,ENST00000341048,NM_024669.2;ANKRD55,missense_variant,p.Leu374Ile,ENST00000504958,;ANKRD55,missense_variant,p.Leu129Ile,ENST00000434982,;AC008892.1,downstream_gene_variant,,ENST00000644169,;AC008892.1,downstream_gene_variant,,ENST00000645512,;ANKRD55,downstream_gene_variant,,ENST00000505970,; T ENSG00000164512 ENST00000341048 Transcript missense_variant 1401/2502 1249/1845 417/614 L/I Ctc/Atc COSM278860 1 -1 ANKRD55 HGNC HGNC:25681 protein_coding YES CCDS34161.1 ENSP00000342295 Q3KP44 UPI00004572EF NM_024669.2 tolerated_low_confidence(0.06) benign(0.012) 10/12 1 MODERATE 1 SNV 2 1 1 PASS AGA . . 56111499 GNL1 . GRCh38 chr6 30546268 30546268 + Missense_Mutation SNP T T C novel 7316-2154 BS_2EAATK5V T T c.1628A>G p.Gln543Arg p.Q543R ENST00000376621 12/12 67 56 11 38 36 0 GNL1,missense_variant,p.Gln543Arg,ENST00000376621,NM_005275.3;GNL1,downstream_gene_variant,,ENST00000462708,;GNL1,downstream_gene_variant,,ENST00000464231,; C ENSG00000204590 ENST00000376621 Transcript missense_variant 2599/7490 1628/1824 543/607 Q/R cAg/cGg 1 -1 GNL1 HGNC HGNC:4413 protein_coding YES CCDS4680.1 ENSP00000365806 P36915 A0A024RCR2 UPI0000073F2B NM_005275.3 deleterious(0) benign(0.017) 12/12 hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF24 MODERATE 1 SNV 1 PASS CTG . . 30546268 ERVW-1 . GRCh38 chr7 92469253 92469253 + Missense_Mutation SNP C C A rs376336995 7316-2154 BS_2EAATK5V C C c.1129G>T p.Ala377Ser p.A377S ENST00000493463 1/1 95 77 17 44 43 1 ERVW-1,missense_variant,p.Ala377Ser,ENST00000493463,NM_014590.3;ERVW-1,missense_variant,p.Ala377Ser,ENST00000603053,NM_001130925.1;AC007566.1,intron_variant,,ENST00000427458,;ERVW-1,intron_variant,,ENST00000603704,;ERVW-1,intron_variant,,ENST00000604270,; A ENSG00000242950 ENST00000493463 Transcript missense_variant 2053/2925 1129/1617 377/538 A/S Gca/Tca rs376336995,COSM4162496 1 -1 ERVW-1 HGNC HGNC:13525 protein_coding YES CCDS5626.1 ENSP00000419945 Q9UQF0 D0EYG5 UPI00000389BB NM_014590.3 tolerated(0.25) possibly_damaging(0.624) 1/1 PDB-ENSP_mappings:5ha6.A,PDB-ENSP_mappings:5ha6.B,cd09851,hmmpanther:PTHR10424:SF48,hmmpanther:PTHR10424,Pfam_domain:PF00429,Gene3D:1.10.287.210,Superfamily_domains:SSF58069 0,1 MODERATE SNV 0,1 PASS GCT . . 92469253 MUC17 . GRCh38 chr7 101039562 101039562 + Missense_Mutation SNP C C G rs34924040 7316-2154 BS_2EAATK5V C C c.8146C>G p.Pro2716Ala p.P2716A ENST00000306151 3/13 91 78 12 51 49 1 MUC17,missense_variant,p.Pro2716Ala,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro2716Ala,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 8210/14247 8146/13482 2716/4493 P/A Cct/Gct rs34924040,COSM4594221 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.17) benign(0.003) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 0.001664 0.003299 0.001088 0.003043 0.0002523 0.000724 0.001543 0.001338 0.003361 101039562 LAMB1 . GRCh38 chr7 107924092 107924093 + Splice_Region DEL GG GG - rs79073119 7316-2154 BS_2EAATK5V GG GG c.5225-6_5225-5del ENST00000222399 94 86 7 46 45 0 LAMB1,splice_region_variant,,ENST00000222399,NM_002291.2;LAMB1,splice_region_variant,,ENST00000393561,;DLD,downstream_gene_variant,,ENST00000205402,NM_000108.4;DLD,downstream_gene_variant,,ENST00000437604,NM_001289752.1;DLD,downstream_gene_variant,,ENST00000440410,NM_001289751.1,NM_001289750.1;LAMB1,splice_region_variant,,ENST00000472714,;DLD,intron_variant,,ENST00000417551,;DLD,downstream_gene_variant,,ENST00000415325,; - ENSG00000091136 ENST00000222399 Transcript splice_region_variant,intron_variant rs79073119 1 -1 LAMB1 HGNC HGNC:6486 protein_coding YES CCDS5750.1 ENSP00000222399 P07942 UPI00001AE63F NM_002291.2 33/33 0.2073 0.2625 0.1499 0.3175 0.1292 0.1401 0.7739 0.5698 benign LOW 1 deletion 1 1 PASS GTGGG . . 0.01688 0.06036 0.01619 0.01904 0.02325 0.007229 0.01397 0.01388 0.01147 107924091 SPTB . GRCh38 chr14 64793604 64793604 + Missense_Mutation SNP G G A rs763916428 7316-2154 BS_2EAATK5V G G c.2059C>T p.Arg687Cys p.R687C ENST00000644917 14/36 69 64 5 37 37 0 SPTB,missense_variant,p.Arg687Cys,ENST00000644917,NM_001355436.1;SPTB,missense_variant,p.Arg687Cys,ENST00000556626,NM_001355436.1;SPTB,missense_variant,p.Arg687Cys,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Arg687Cys,ENST00000389720,NM_001355437.1;SPTB,missense_variant,p.Arg687Cys,ENST00000389721,NM_000347.5; A ENSG00000070182 ENST00000644917 Transcript missense_variant 2226/10177 2059/6987 687/2328 R/C Cgt/Tgt rs763916428,COSM5382524,COSM5382523 1 -1 SPTB HGNC HGNC:11274 protein_coding YES CCDS32099.1 ENSP00000495909 UPI000053030D NM_001355436.1 deleterious(0.04) probably_damaging(0.935) 14/36 Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,SMART_domains:SM00150,Superfamily_domains:SSF46966,cd00176,cd00176 0,1,1 MODERATE 1 SNV 0,1,1 1 PASS CGG . . 2.442e-05 0.0001192 1.798e-05 64793604 FBRS . GRCh38 chr16 30659843 30659845 + In_Frame_Del DEL GAG GAG - rs754350112 7316-2154 BS_2EAATK5V GAG GAG c.344_346del p.Glu115del p.E115del ENST00000356166 1/18 66 55 5 33 32 0 FBRS,inframe_deletion,p.Glu115del,ENST00000356166,NM_001105079.2;FBRS,upstream_gene_variant,,ENST00000287468,;PRR14,downstream_gene_variant,,ENST00000300835,NM_024031.3;PRR14,downstream_gene_variant,,ENST00000542965,NM_001320464.1;FBRS,upstream_gene_variant,,ENST00000482749,;PRR14,downstream_gene_variant,,ENST00000571654,;PRR14,downstream_gene_variant,,ENST00000287463,;FBRS,upstream_gene_variant,,ENST00000468966,;FBRS,upstream_gene_variant,,ENST00000484152,;FBRS,upstream_gene_variant,,ENST00000498588,;FBRS,upstream_gene_variant,,ENST00000543786,;PRR14,downstream_gene_variant,,ENST00000564946,;PRR14,downstream_gene_variant,,ENST00000565977,;PRR14,downstream_gene_variant,,ENST00000567322,;PRR14,downstream_gene_variant,,ENST00000567989,;,regulatory_region_variant,,ENSR00000085232,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; - ENSG00000156860 ENST00000356166 Transcript inframe_deletion 1413-1415/5200 325-327/2943 109/980 E/- GAG/- rs754350112 1 1 FBRS HGNC HGNC:20442 protein_coding YES CCDS45462.2 ENSP00000348489 J3KNZ9 UPI0000E59D83 NM_001105079.2 1/18 Low_complexity_(Seg):seg,mobidb-lite MODERATE deletion 5 19 PASS AAGAGG . . 0.01454 0.02081 0.008836 0.02267 0.01904 0.01244 0.01546 0.01455 0.01336 30659842 SOCS7 . GRCh38 chr17 38352780 38352782 + In_Frame_Del DEL AGC AGC - rs769938974 7316-2154 BS_2EAATK5V AGC AGC c.558_560del p.Gln187del p.Q187del ENST00000612932 1/10 72 55 6 29 28 0 SOCS7,inframe_deletion,p.Gln187del,ENST00000612932,NM_014598.3;SOCS7,inframe_deletion,p.Gln187del,ENST00000613678,;SOCS7,upstream_gene_variant,,ENST00000617765,;SOCS7,non_coding_transcript_exon_variant,,ENST00000617360,;,regulatory_region_variant,,ENSR00000093745,; - ENSG00000274211 ENST00000612932 Transcript inframe_deletion 536-538/7857 536-538/1746 179-180/581 EQ/E gAGCag/gag rs769938974,TMP_ESP_17_36508663_36508665 1 1 SOCS7 HGNC HGNC:29846 protein_coding YES CCDS32637.1 ENSP00000482229 O14512 UPI00001AFDEB NM_014598.3 1/10 hmmpanther:PTHR45052,mobidb-lite,Low_complexity_(Seg):seg 0.02756 0.04311 MODERATE 1 deletion 1 22 PASS GGAGCA . . 0.0008396 0.0001546 0.001015 0.001877 0.0005025 0.0008787 0.0007567 0.001083 0.0007568 38352779 EXOC7 . GRCh38 chr17 76083757 76083757 + Splice_Region SNP A A G rs2665986 7316-2154 BS_2EAATK5V A A c.2106-7T>C ENST00000335146 93 34 58 32 27 3 EXOC7,splice_region_variant,,ENST00000332065,NM_015219.4;EXOC7,splice_region_variant,,ENST00000335146,NM_001145297.3;EXOC7,splice_region_variant,,ENST00000357231,;EXOC7,splice_region_variant,,ENST00000405575,;EXOC7,splice_region_variant,,ENST00000411744,NM_001145298.3;EXOC7,splice_region_variant,,ENST00000467929,NM_001282313.1;EXOC7,splice_region_variant,,ENST00000589210,NM_001013839.3;EXOC7,splice_region_variant,,ENST00000607838,;EXOC7,splice_region_variant,,ENST00000634349,NM_001145299.3;ZACN,downstream_gene_variant,,ENST00000334586,NM_180990.3;EXOC7,upstream_gene_variant,,ENST00000591724,;EXOC7,splice_region_variant,,ENST00000465252,;EXOC7,splice_region_variant,,ENST00000467586,;ZACN,downstream_gene_variant,,ENST00000421794,;ZACN,downstream_gene_variant,,ENST00000425015,;EXOC7,downstream_gene_variant,,ENST00000460476,;EXOC7,downstream_gene_variant,,ENST00000486053,;EXOC7,downstream_gene_variant,,ENST00000494787,;ZACN,downstream_gene_variant,,ENST00000524242,;ZACN,downstream_gene_variant,,ENST00000590045,;ZACN,downstream_gene_variant,,ENST00000591500,;EXOC7,downstream_gene_variant,,ENST00000592559,; G ENSG00000182473 ENST00000335146 Transcript splice_region_variant,intron_variant rs2665986,COSM3932738,COSM3932737 1 -1 EXOC7 HGNC HGNC:23214 protein_coding YES CCDS45782.1 ENSP00000334100 Q9UPT5 UPI00001AFC78 NM_001145297.3 19/19 0.611 0.649 0.4899 0.5238 0.6213 0.7249 0.6355 0.6106 0,1,1 LOW 1 SNV 1 0,1,1 PASS GAG . . 0.5943 0.6443 0.4415 0.6105 0.478 0.605 0.6166 0.5949 0.7073 76083757 SLC9A8 . GRCh38 chr20 49850764 49850764 + Frame_Shift_Del DEL T T - rs564652819 7316-2154 BS_2EAATK5V T T c.546del p.Phe182LeufsTer16 p.F182Lfs*16 ENST00000417961 7/16 81 67 7 42 39 0 SLC9A8,frameshift_variant,p.Phe182LeufsTer16,ENST00000417961,NM_001260491.1;SLC9A8,intron_variant,,ENST00000361573,NM_015266.2; - ENSG00000197818 ENST00000417961 Transcript frameshift_variant,splice_region_variant 747/6309 537/1794 179/597 G/X ggT/gg rs564652819,TMP_ESP_20_48467301_48467301,COSM1615719 1 1 SLC9A8 HGNC HGNC:20728 protein_coding YES CCDS58774.1 ENSP00000416418 Q9Y2E8 UPI00017A7E08 NM_001260491.1 7/16 Transmembrane_helices:TMhelix,hmmpanther:PTHR10110:SF88,hmmpanther:PTHR10110,Pfam_domain:PF00999,TIGRFAM_domain:TIGR00840 0.03963 0.0361 0,0,1 HIGH 1 deletion 2 9 0,0,1 PASS GGTT . . 0.008126 0.005849 0.0121 0.008828 0.008553 0.004731 0.007844 0.007428 0.009422 49850763 HUNK . GRCh38 chr21 31940228 31940228 + Splice_Region DEL T T - rs768547280 7316-2154 BS_2EAATK5V T T c.610+21del ENST00000270112 71 50 13 31 25 0 HUNK,splice_region_variant,,ENST00000270112,NM_014586.1;HUNK,splice_region_variant,,ENST00000430354,; - ENSG00000142149 ENST00000270112 Transcript splice_region_variant,intron_variant rs768547280,TMP_ESP_21_33312540_33312541,COSM1615992 1 1 HUNK HGNC HGNC:13326 protein_coding YES CCDS13610.1 ENSP00000270112 P57058 UPI0000035B66 NM_014586.1 3/10 0.2192 0.2553 0,0,1 LOW 1 deletion 1 13 0,0,1 PASS ACTT . . 0.3858 0.3026 0.3973 0.4239 0.3818 0.3844 0.3806 0.3852 0.4266 31940227 IGLV3-25 . GRCh38 chr22 22687254 22687254 + Missense_Mutation SNP A A T rs199561156 7316-2154 BS_2EAATK5V A A c.320A>T p.Gln107Leu p.Q107L ENST00000390305 2/2 65 59 6 32 32 0 IGLV3-25,missense_variant,p.Gln107Leu,ENST00000390305,;,regulatory_region_variant,,ENSR00000301283,;AC244250.2,upstream_gene_variant,,ENST00000418731,; T ENSG00000211659 ENST00000390305 Transcript missense_variant 363/380 320/337 107/112 Q/L cAa/cTa rs199561156 1 1 IGLV3-25 HGNC HGNC:5908 IG_V_gene YES ENSP00000374840 P01717 UPI0004620D1D tolerated(0.31) benign(0.003) 2/2 MODERATE 1 SNV PASS CAA . . 0.0005433 0.0004881 0.000278 0.0003184 0.001249 0.0002429 0.0007252 0.0003826 0.0001688 22687254 FAM9A . GRCh38 chrX 8795246 8795246 + Missense_Mutation SNP G G T 7316-2154 BS_2EAATK5V G G c.663C>A p.Asp221Glu p.D221E ENST00000543214 7/10 72 62 5 40 38 0 FAM9A,missense_variant,p.Asp221Glu,ENST00000543214,NM_001171186.1;FAM9A,missense_variant,p.Asp221Glu,ENST00000381003,NM_174951.3; T ENSG00000183304 ENST00000543214 Transcript missense_variant 799/1544 663/999 221/332 D/E gaC/gaA COSM6852045 1 -1 FAM9A HGNC HGNC:18403 protein_coding YES CCDS14131.1 ENSP00000440163 Q8IZU1 UPI000012A418 NM_001171186.1 tolerated_low_confidence(0.15) benign(0) 7/10 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19368,hmmpanther:PTHR19368:SF2 1 MODERATE 1 SNV 1 1 PASS CGT . . 8795246 PJA1 . GRCh38 chrX 69162869 69162869 + Missense_Mutation SNP C C T novel 7316-2154 BS_2EAATK5V C C c.370G>A p.Asp124Asn p.D124N ENST00000361478 2/2 81 65 15 30 30 0 PJA1,missense_variant,p.Asp124Asn,ENST00000361478,NM_145119.3;PJA1,missense_variant,p.Asp124Asn,ENST00000374583,;PJA1,missense_variant,p.Asp69Asn,ENST00000374571,NM_001032396.2;PJA1,missense_variant,p.Asp124Asn,ENST00000590146,;PJA1,intron_variant,,ENST00000374584,NM_022368.4;PJA1,upstream_gene_variant,,ENST00000471141,;PJA1,non_coding_transcript_exon_variant,,ENST00000477231,; T ENSG00000181191 ENST00000361478 Transcript missense_variant 748/2755 370/1932 124/643 D/N Gat/Aat 1 -1 PJA1 HGNC HGNC:16648 protein_coding YES CCDS14393.1 ENSP00000355014 Q8NG27 UPI000006D00A NM_145119.3 deleterious(0.04) benign(0.143) 2/2 mobidb-lite,hmmpanther:PTHR15710:SF2,hmmpanther:PTHR15710 MODERATE 1 SNV 1 PASS TCT . . 69162869 KLF18 . GRCh38 chr1 44139732 44139732 + Missense_Mutation SNP C C T rs1337587726 7316-20 BS_AZG06JFG C C c.1900G>A p.Ala634Thr p.A634T ENST00000634670 1/2 61 50 8 32 28 0 KLF18,missense_variant,p.Ala634Thr,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; T ENSG00000283039 ENST00000634670 Transcript missense_variant 1900/3159 1900/3159 634/1052 A/T Gct/Act rs1337587726 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.41) unknown(0) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GCA . . 44139732 KLF18 . GRCh38 chr1 44139987 44139987 + Missense_Mutation SNP G G A rs112763146 7316-20 BS_AZG06JFG G G c.1645C>T p.Pro549Ser p.P549S ENST00000634670 1/2 48 38 7 37 34 0 KLF18,missense_variant,p.Pro549Ser,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; A ENSG00000283039 ENST00000634670 Transcript missense_variant 1645/3159 1645/3159 549/1052 P/S Ccc/Tcc rs112763146 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 deleterious(0.05) benign(0) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GGG . . 44139987 LINC01808 . GRCh38 chr2 19479095 19479095 + Splice_Site SNP A A T rs1368920709 7316-20 BS_AZG06JFG A A n.573-2A>T ENST00000641932 91 78 8 36 33 0 LINC01808,splice_acceptor_variant,,ENST00000641932,;LINC01808,intron_variant,,ENST00000450628,;LINC01808,intron_variant,,ENST00000641680,; T ENSG00000237992 ENST00000641932 Transcript splice_acceptor_variant,non_coding_transcript_variant rs1368920709 1 1 LINC01808 HGNC HGNC:52611 lincRNA YES 2/6 HIGH 1 SNV PASS TAG . . 19479095 CD8A . GRCh38 chr2 86801664 86801665 + Splice_Region INS - - A rs202222475 7316-20 BS_AZG06JFG - - c.-417-8dup ENST00000409511 61 53 5 31 30 0 CD8A,splice_region_variant,,ENST00000409511,NM_001145873.1; A ENSG00000153563 ENST00000409511 Transcript splice_region_variant,intron_variant rs202222475 1 -1 CD8A HGNC HGNC:1706 protein_coding YES CCDS1992.1 ENSP00000386559 P01732 UPI00001273B4 NM_001145873.1 2/8 LOW 1 insertion 2 1 PASS TGA . . 86801664 TTN . GRCh38 chr2 178652691 178652691 + Missense_Mutation SNP G G A rs367805038 7316-20 BS_AZG06JFG G G c.39005C>T p.Ser13002Leu p.S13002L ENST00000589042 201/363 68 60 8 40 40 0 TTN,missense_variant,p.Ser13002Leu,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; A ENSG00000155657 ENST00000589042 Transcript missense_variant 39230/109224 39005/107976 13002/35991 S/L tCg/tTg rs367805038 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 unknown(0) 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS CGA . . 4.107e-05 6.814e-05 8.956e-05 5.809e-05 2.73e-05 0.000184 3.253e-05 178652691 FOXD1 . GRCh38 chr5 73447443 73447443 + Missense_Mutation SNP T T G rs1409757300 7316-20 BS_AZG06JFG T T c.920A>C p.His307Pro p.H307P ENST00000615637 1/1 60 45 11 33 29 1 FOXD1,missense_variant,p.His307Pro,ENST00000615637,NM_004472.2;LINC01385,upstream_gene_variant,,ENST00000512310,;FOXD1-AS1,downstream_gene_variant,,ENST00000514661,;FOXD1,upstream_gene_variant,,ENST00000513595,;,regulatory_region_variant,,ENSR00000182415,;,TF_binding_site_variant,,MA0162.2,; G ENSG00000251493 ENST00000615637 Transcript missense_variant 1085/2272 920/1398 307/465 H/P cAc/cCc rs1409757300 1 -1 FOXD1 HGNC HGNC:3802 protein_coding YES CCDS75259.1 ENSP00000481581 Q16676 UPI000012ADC8 NM_004472.2 tolerated(0.23) unknown(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF329,hmmpanther:PTHR11829 MODERATE SNV PASS GTG . . 73447443 MUC22 . GRCh38 chr6 31027914 31027914 + Missense_Mutation SNP A A C rs867193328 7316-20 BS_AZG06JFG A A c.2483A>C p.Asp828Ala p.D828A ENST00000561890 2/4 101 86 10 36 35 0 MUC22,missense_variant,p.Asp828Ala,ENST00000561890,NM_001198815.1,NM_001318484.1; C ENSG00000261272 ENST00000561890 Transcript missense_variant 2716/6019 2483/5322 828/1773 D/A gAc/gCc rs867193328 1 1 MUC22 HGNC HGNC:39755 protein_coding YES CCDS59003.1 ENSP00000455906 E2RYF6 UPI0001E92A31 NM_001198815.1,NM_001318484.1 tolerated(0.76) unknown(0) 2/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR37000,hmmpanther:PTHR37000 MODERATE 1 SNV 2 PASS GAC . . 2.431e-05 0.0001271 31027914 CACNA2D1 . GRCh38 chr7 82136680 82136681 + Splice_Region INS - - A rs531314472,rs1453077494 7316-20 BS_AZG06JFG - - c.355-5dup ENST00000356860 73 57 10 40 36 0 CACNA2D1,splice_region_variant,,ENST00000356253,;CACNA2D1,splice_region_variant,,ENST00000356860,NM_000722.3;CACNA2D1,splice_region_variant,,ENST00000423588,NM_001302890.1;CACNA2D1,splice_region_variant,,ENST00000484706,; A ENSG00000153956 ENST00000356860 Transcript splice_region_variant,intron_variant rs531314472,rs1453077494,TMP_ESP_7_81765997_81765997 1 -1 CACNA2D1 HGNC HGNC:1399 protein_coding YES CCDS5598.1 ENSP00000349320 P54289 UPI00003674CD NM_000722.3 4/38 0.1254 0.1899 0.1037 0.0952 0.0845 0.1268 0.149 0.09849 benign LOW 1 insertion 1 1 PASS ACA . . 0.135 0.1977 0.1991 0.1556 0.1699 0.09989 0.1094 0.1469 0.1188 82136680 LUZP2 . GRCh38 chr11 25050033 25050033 + Splice_Region SNP T T C novel 7316-20 BS_AZG06JFG T T c.766-5T>C ENST00000336930 62 35 26 36 36 0 LUZP2,splice_region_variant,,ENST00000336930,NM_001252010.1,NM_001009909.3;LUZP2,splice_region_variant,,ENST00000533227,NM_001252008.1;LUZP2,splice_region_variant,,ENST00000620308,; C ENSG00000187398 ENST00000336930 Transcript splice_region_variant,intron_variant 1 1 LUZP2 HGNC HGNC:23206 protein_coding YES CCDS31446.1 ENSP00000336817 Q86TE4 UPI000019816C NM_001252010.1,NM_001009909.3 9/11 LOW 1 SNV 1 PASS TTT . . 25050033 IGHJ6 . GRCh38 chr14 105863240 105863241 + In_Frame_Ins INS - - ACC rs74454466 7316-20 BS_AZG06JFG - - c.18_19insGGT p.Tyr6_Met7insGly p.Y6_M7insG ENST00000390560 1/1 66 49 10 28 28 0 IGHJ6,inframe_insertion,p.Tyr6_Met7insGly,ENST00000390560,;IGHJ2,downstream_gene_variant,,ENST00000390564,;IGHJ1,downstream_gene_variant,,ENST00000390565,;IGHD7-27,downstream_gene_variant,,ENST00000439842,;IGHJ4,downstream_gene_variant,,ENST00000461719,;IGHJ3,downstream_gene_variant,,ENST00000463911,;IGHJ5,downstream_gene_variant,,ENST00000488476,;MIR4538,upstream_gene_variant,,ENST00000581377,;MIR4537,upstream_gene_variant,,ENST00000581717,;IGHJ3P,downstream_gene_variant,,ENST00000436826,;IGHJ1P,downstream_gene_variant,,ENST00000450690,;IGHJ2P,downstream_gene_variant,,ENST00000454480,; ACC ENSG00000211900 ENST00000390560 Transcript inframe_insertion 18-19/61 18-19/61 6-7/20 -/G -/GGT rs74454466 1 -1 IGHJ6 HGNC HGNC:5540 IG_J_gene YES ENSP00000419223 A0A0A0MT91 UPI000173A6A4 1/1 MODERATE 1 insertion PASS ATG . . 105863240 CRTC3 . GRCh38 chr15 90602331 90602331 + Missense_Mutation SNP G G T novel 7316-20 BS_AZG06JFG G G c.359G>T p.Gly120Val p.G120V ENST00000268184 4/15 80 73 5 38 38 0 CRTC3,missense_variant,p.Gly120Val,ENST00000420329,NM_001042574.2;CRTC3,missense_variant,p.Gly120Val,ENST00000268184,NM_022769.4;CRTC3,missense_variant,p.Gly18Val,ENST00000558005,;CRTC3,downstream_gene_variant,,ENST00000560098,;AC103739.2,downstream_gene_variant,,ENST00000559839,;CRTC3,splice_region_variant,,ENST00000558496,;CRTC3,splice_region_variant,,ENST00000561255,;CRTC3,non_coding_transcript_exon_variant,,ENST00000558619,;CRTC3,downstream_gene_variant,,ENST00000561218,;CRTC3,downstream_gene_variant,,ENST00000561290,;CRTC3,non_coding_transcript_exon_variant,,ENST00000561119,; T ENSG00000140577 ENST00000268184 Transcript missense_variant 363/2537 359/1860 120/619 G/V gGt/gTt 1 1 CRTC3 HGNC HGNC:26148 protein_coding YES CCDS32331.1 ENSP00000268184 Q6UUV7 UPI00001FEB98 NM_022769.4 deleterious(0.02) benign(0.058) 4/15 mobidb-lite,hmmpanther:PTHR13589:SF4,hmmpanther:PTHR13589 MODERATE 1 SNV 1 1 PASS GGT . . 90602331 PLIN4 . GRCh38 chr19 4512144 4512144 + Missense_Mutation SNP C C T rs112356938 7316-20 BS_AZG06JFG C C c.1774G>A p.Val592Met p.V592M ENST00000301286 3/6 67 57 6 42 41 0 PLIN4,missense_variant,p.Val607Met,ENST00000633942,;PLIN4,missense_variant,p.Val592Met,ENST00000301286,NM_001080400.1; T ENSG00000167676 ENST00000301286 Transcript missense_variant 1774/6353 1774/4074 592/1357 V/M Gtg/Atg rs112356938,COSM6205500,COSM229593 1 -1 PLIN4 HGNC HGNC:29393 protein_coding YES CCDS45927.1 ENSP00000301286 Q96Q06 UPI00001D822A NM_001080400.1 deleterious(0.03) benign(0.243) 3/6 Gene3D:1.20.120.20,hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF31,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ACG . . 0.0003256 0.0004565 0.0005473 0.0007329 0.0003792 0.0001495 0.0002431 0.0006264 4512144 MUC16 . GRCh38 chr19 8937867 8937867 + Missense_Mutation SNP T T C rs765996093 7316-20 BS_AZG06JFG T T c.33088A>G p.Thr11030Ala p.T11030A ENST00000397910 5/84 80 62 15 40 39 1 MUC16,missense_variant,p.Thr11030Ala,ENST00000397910,NM_024690.2; C ENSG00000181143 ENST00000397910 Transcript missense_variant 33292/43816 33088/43524 11030/14507 T/A Act/Gct rs765996093,COSM3718544,COSM3718543 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0) 5/84 mobidb-lite,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GTT . . 3.788e-05 6.18e-05 7.304e-05 8937867 ZNF534 . GRCh38 chr19 52439054 52439054 + Missense_Mutation SNP C C A 7316-20 BS_AZG06JFG C C c.1633C>A p.Arg545Ser p.R545S ENST00000332323 4/4 73 62 8 36 35 0 ZNF534,missense_variant,p.Arg545Ser,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Arg532Ser,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1; A ENSG00000198633 ENST00000332323 Transcript missense_variant 1694/2086 1633/2025 545/674 R/S Cgt/Agt COSM6003996,COSM1481436,COSM1234220 1 1 ZNF534 HGNC HGNC:26337 protein_coding YES CCDS46165.1 ENSP00000327538 Q76KX8 UPI0000351984 NM_001143939.1 tolerated(1) benign(0.013) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF187,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1,1 MODERATE 1 SNV 1 1,1,1 PASS CCG . . 52439054 GSTT4 . GRCh38 chr22 24003829 24003829 + Missense_Mutation SNP C C T rs200981507 7316-20 BS_AZG06JFG C C c.131G>A p.Gly44Glu p.G44E ENST00000621179 2/5 110 73 33 53 46 7 GSTT4,missense_variant,p.Gly44Glu,ENST00000621179,NM_001358664.1;GSTT4,missense_variant,p.Gly44Glu,ENST00000611600,;GSTT4,3_prime_UTR_variant,,ENST00000617532,;GSTT4,non_coding_transcript_exon_variant,,ENST00000612717,;AC253536.4,downstream_gene_variant,,ENST00000440539,; T ENSG00000276950 ENST00000621179 Transcript missense_variant 184/920 131/726 44/241 G/E gGa/gAa rs200981507 1 -1 GSTT4 HGNC HGNC:26930 protein_coding YES ENSP00000492273 A0A1W2PR19 UPI00097BA78E NM_001358664.1 tolerated(1) benign(0) 2/5 PROSITE_profiles:PS50404,SFLDS00019,SFLDG00358,hmmpanther:PTHR43917,hmmpanther:PTHR43917:SF2,Pfam_domain:PF13417,Gene3D:3.40.30.10,Superfamily_domains:SSF52833 MODERATE 1 SNV 5 PASS TCC . . 24003829 ARMCX4 . GRCh38 chrX 101491270 101491270 + Missense_Mutation SNP T T C novel 7316-20 BS_AZG06JFG T T c.2681T>C p.Val894Ala p.V894A ENST00000423738 2/2 53 41 11 14 14 0 ARMCX4,missense_variant,p.Val894Ala,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; C ENSG00000196440 ENST00000423738 Transcript missense_variant 2883/7424 2681/6873 894/2290 V/A gTt/gCt 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(1) benign(0.001) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS GTT . . 101491270 MT-CYB . GRCh38 chrM 15759 15759 + Missense_Mutation SNP T T C novel 7316-20 BS_AZG06JFG T T c.1013T>C p.Ile338Thr p.I338T ENST00000361789 1/1 17185 14822 2134 2952 2862 52 MT-CYB,missense_variant,p.Ile338Thr,ENST00000361789,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND5,downstream_gene_variant,,ENST00000361567,;MT-ND6,upstream_gene_variant,,ENST00000361681,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,upstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339372,; C ENSG00000198727 ENST00000361789 Transcript missense_variant 1013/1141 1013/1141 338/380 I/T aTc/aCc 1 1 MT-CYB HGNC HGNC:7427 protein_coding YES ENSP00000354554 P00156 Q0ZFD6 UPI0000DA7DCA deleterious_low_confidence(0) benign(0.268) 1/1 PDB-ENSP_mappings:5xte.J,PDB-ENSP_mappings:5xte.V,PDB-ENSP_mappings:5xth.AJ,PDB-ENSP_mappings:5xth.AV,PDB-ENSP_mappings:5xti.AJ,PDB-ENSP_mappings:5xti.AV,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS51003,cd00290,hmmpanther:PTHR19271,Pfam_domain:PF00032,Gene3D:1.20.810.10,PIRSF_domain:PIRSF038885,Superfamily_domains:SSF81648 MODERATE 1 SNV 1 PASS ATC . . 15759 FLG . GRCh38 chr1 152303901 152303901 + Missense_Mutation SNP C C G rs75235053 7316-3575 BS_TTZA89Y4 C C c.10985G>C p.Ser3662Thr p.S3662T ENST00000368799 3/3 58 47 10 36 36 0 FLG,missense_variant,p.Ser3662Thr,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,; G ENSG00000143631 ENST00000368799 Transcript missense_variant 11021/12747 10985/12186 3662/4061 S/T aGt/aCt rs75235053,COSM226460 1 -1 FLG HGNC HGNC:3748 protein_coding YES CCDS30860.1 ENSP00000357789 P20930 UPI0000470CB3 NM_002016.1 deleterious(0.01) possibly_damaging(0.763) 3/3 mobidb-lite,Pfam_domain:PF03516,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF45 0,1 29281699 MODERATE 1 SNV 1 0,1 1 PASS ACT . . 0.01302 0.0001397 0.02988 0.005755 0.064 0.009785 0.003807 0.01065 0.02006 152303901 KLHL6 . GRCh38 chr3 183499739 183499739 + Missense_Mutation SNP A A C novel 7316-3575 BS_TTZA89Y4 A A c.998T>G p.Phe333Cys p.F333C ENST00000341319 4/7 61 49 12 32 32 0 KLHL6,missense_variant,p.Phe333Cys,ENST00000341319,NM_130446.2;KLHL6,missense_variant,p.Phe322Cys,ENST00000468734,;KLHL6,intron_variant,,ENST00000489245,; C ENSG00000172578 ENST00000341319 Transcript missense_variant 1034/6298 998/1866 333/621 F/C tTt/tGt 1 -1 KLHL6 HGNC HGNC:18653 protein_coding YES CCDS3245.2 ENSP00000341342 Q8WZ60 UPI0000169CB9 NM_130446.2 deleterious(0) probably_damaging(0.96) 4/7 hmmpanther:PTHR24411:SF4,hmmpanther:PTHR24411,Gene3D:2.120.10.80,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF117281 MODERATE 1 SNV 1 PASS AAA . . 183499739 MUC22 . GRCh38 chr6 31027301 31027301 + Missense_Mutation SNP G G A rs62399441 7316-3575 BS_TTZA89Y4 G G c.1870G>A p.Glu624Lys p.E624K ENST00000561890 2/4 45 35 9 16 15 0 MUC22,missense_variant,p.Glu624Lys,ENST00000561890,NM_001198815.1,NM_001318484.1; A ENSG00000261272 ENST00000561890 Transcript missense_variant 2103/6019 1870/5322 624/1773 E/K Gag/Aag rs62399441,COSM4160624 1 1 MUC22 HGNC HGNC:39755 protein_coding YES CCDS59003.1 ENSP00000455906 E2RYF6 UPI0001E92A31 NM_001198815.1,NM_001318484.1 tolerated(0.38) unknown(0) 2/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR37000 0,1 MODERATE 1 SNV 2 0,1 PASS TGA . . 2.068e-05 2.823e-05 5.595e-05 31027301 CCHCR1 . GRCh38 chr6 31145495 31145496 + Splice_Region INS - - G rs34338827 7316-3575 BS_TTZA89Y4 - - c.1694-3dup ENST00000396268 73 58 7 35 35 0 CCHCR1,splice_region_variant,,ENST00000376266,NM_019052.3;CCHCR1,splice_region_variant,,ENST00000396268,NM_001105564.1;CCHCR1,splice_region_variant,,ENST00000451521,NM_001105563.1;CCHCR1,intron_variant,,ENST00000396263,;CCHCR1,downstream_gene_variant,,ENST00000480060,;CCHCR1,splice_region_variant,,ENST00000509552,;CCHCR1,upstream_gene_variant,,ENST00000467553,;CCHCR1,upstream_gene_variant,,ENST00000486060,;POLR2LP1,downstream_gene_variant,,ENST00000444785,; G ENSG00000204536 ENST00000396268 Transcript splice_region_variant,intron_variant rs34338827 1 -1 CCHCR1 HGNC HGNC:13930 protein_coding YES CCDS43445.1 ENSP00000379566 Q8TD31 UPI0000E5ACDF NM_001105564.1 11/17 LOW 1 insertion 1 PASS CTG . . 31145495 TREML2 . GRCh38 chr6 41200976 41200978 + In_Frame_Del DEL CAG CAG - rs774710066 7316-3575 BS_TTZA89Y4 CAG CAG c.31_33del p.Leu11del p.L11del ENST00000483722 1/5 70 58 5 29 27 0 TREML2,inframe_deletion,p.Leu11del,ENST00000483722,NM_024807.3;,regulatory_region_variant,,ENSR00000196800,; - ENSG00000112195 ENST00000483722 Transcript inframe_deletion 217-219/3302 31-33/966 11/321 L/- CTG/- rs774710066,COSM1722839 1 -1 TREML2 HGNC HGNC:21092 protein_coding YES CCDS4853.2 ENSP00000418767 Q5T2D2 UPI0000074452 NM_024807.3 1/5 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16423:SF3,hmmpanther:PTHR16423 0.03354 0.03017 0,1 MODERATE 1 deletion 1 0,1 PASS CACAGC . . 0.01106 0.008912 0.01689 0.02305 0.01386 0.005223 0.007951 0.01942 0.01897 41200975 TRBV7-4 . GRCh38 chr7 142455559 142455559 + Missense_Mutation SNP A A G rs1173337964 7316-3575 BS_TTZA89Y4 A A c.271A>G p.Arg91Gly p.R91G ENST00000390369 2/2 67 49 18 39 37 2 TRBV7-4,missense_variant,p.Arg91Gly,ENST00000390369,;TRBV6-5,downstream_gene_variant,,ENST00000390368,;,regulatory_region_variant,,ENSR00000219246,; G ENSG00000253409 ENST00000390369 Transcript missense_variant 271/347 271/347 91/115 R/G Aga/Gga rs1173337964 1 1 TRBV7-4 HGNC HGNC:12238 TR_V_gene YES ENSP00000374892 A0A1B0GX95 UPI00053BD5AB tolerated(1) benign(0) 2/2 MODERATE 1 SNV PASS GAG . . 142455559 KMT2C . GRCh38 chr7 152229936 152229936 + Missense_Mutation SNP C C A rs28522267 7316-3575 BS_TTZA89Y4 C C c.2963G>T p.Cys988Phe p.C988F ENST00000262189 18/59 83 57 26 38 35 2 KMT2C,missense_variant,p.Cys988Phe,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Cys988Phe,ENST00000355193,;KMT2C,missense_variant,p.Cys144Phe,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,; A ENSG00000055609 ENST00000262189 Transcript missense_variant 3182/16862 2963/14736 988/4911 C/F tGt/tTt rs28522267,COSM150427,COSM150426 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 deleterious(0) probably_damaging(0.998) 18/59 Gene3D:3.30.40.10,PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903,cd15596 benign 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS ACA . . 0.1852 0.1527 0.2309 0.1432 0.2282 0.2877 0.1637 0.2093 0.1179 152229936 AGAP4 . GRCh38 chr10 45826224 45826224 + Missense_Mutation SNP C C A rs1275629786 7316-3575 BS_TTZA89Y4 C C c.1683G>T p.Glu561Asp p.E561D ENST00000448048 7/7 59 48 11 24 24 0 AGAP4,missense_variant,p.Glu584Asp,ENST00000616763,;AGAP4,missense_variant,p.Glu561Asp,ENST00000311652,;AGAP4,missense_variant,p.Glu561Asp,ENST00000448048,NM_133446.3;AGAP4,missense_variant,p.Glu584Asp,ENST00000618171,NM_001276343.2,NM_001291379.1;AGAP4,downstream_gene_variant,,ENST00000430779,; A ENSG00000188234 ENST00000448048 Transcript missense_variant 1809/2439 1683/1992 561/663 E/D gaG/gaT rs1275629786,COSM4598009 1 -1 AGAP4 HGNC HGNC:23459 protein_coding YES CCDS7215.1 ENSP00000392513 Q96P64 UPI000013ED67 NM_133446.3 tolerated(0.65) benign(0.007) 7/7 Gene3D:1.25.40.20,PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF383,SMART_domains:SM00105 0,1 MODERATE 1 SNV 1 0,1 PASS GCT . . 0.0002779 0.0002347 0.0003249 0.0005221 0.0002197 0.0008681 45826224 CFAP46 . GRCh38 chr10 132918385 132918385 + Splice_Region SNP T T C rs201714283 7316-3575 BS_TTZA89Y4 T T c.1986+8A>G ENST00000368586 58 42 10 33 30 0 CFAP46,splice_region_variant,,ENST00000368586,NM_001200049.2;CFAP46,upstream_gene_variant,,ENST00000486104,; C ENSG00000171811 ENST00000368586 Transcript splice_region_variant,intron_variant rs201714283,COSM4175642,COSM4175641 1 -1 CFAP46 HGNC HGNC:25247 protein_coding YES CCDS58101.1 ENSP00000357575 Q8IYW2 UPI0001B79116 NM_001200049.2 16/57 0.0042 0.0083 0.0029 0.002 0.005 0.001 0,1,1 LOW 1 SNV 5 0,1,1 PASS ATG . . 0.00383 0.003147 0.002929 0.001088 0.003704 0.00282 0.004639 0.004212 0.004861 132918385 C2CD2L . GRCh38 chr11 119107906 119107906 + Missense_Mutation SNP A A C novel 7316-3575 BS_TTZA89Y4 A A c.165A>C p.Glu55Asp p.E55D ENST00000336702 1/14 65 52 11 20 17 0 C2CD2L,missense_variant,p.Glu55Asp,ENST00000336702,NM_001290474.1,NM_014807.4;DPAGT1,5_prime_UTR_variant,,ENST00000409993,;C2CD2L,upstream_gene_variant,,ENST00000528586,;C2CD2L,downstream_gene_variant,,ENST00000527854,;C2CD2L,downstream_gene_variant,,ENST00000528271,;C2CD2L,downstream_gene_variant,,ENST00000529600,;C2CD2L,downstream_gene_variant,,ENST00000529885,;C2CD2L,downstream_gene_variant,,ENST00000534024,;C2CD2L,upstream_gene_variant,,ENST00000525598,;C2CD2L,upstream_gene_variant,,ENST00000529874,;C2CD2L,upstream_gene_variant,,ENST00000533458,;,regulatory_region_variant,,ENSR00000045727,; C ENSG00000172375 ENST00000336702 Transcript missense_variant 524/4771 165/2124 55/707 E/D gaA/gaC 1 1 C2CD2L HGNC HGNC:29000 protein_coding YES CCDS8413.1 ENSP00000338885 O14523 UPI0000192105 NM_001290474.1,NM_014807.4 tolerated(0.33) benign(0.025) 1/14 hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF8,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 119107906 IGHV4-61 . GRCh38 chr14 106639321 106639321 + Missense_Mutation SNP T T C rs1064309 7316-3575 BS_TTZA89Y4 T T c.154A>G p.Ser52Gly p.S52G ENST00000390630 2/2 78 67 8 38 38 0 IGHV4-61,missense_variant,p.Ser52Gly,ENST00000390630,;RNA5SP389,downstream_gene_variant,,ENST00000362610,;,regulatory_region_variant,,ENSR00000073899,;,regulatory_region_variant,,ENSR00000276414,;IGHVII-60-1,upstream_gene_variant,,ENST00000519079,;IGHV3-62,downstream_gene_variant,,ENST00000520057,; C ENSG00000211970 ENST00000390630 Transcript missense_variant 255/457 154/356 52/118 S/G Agt/Ggt rs1064309 1 -1 IGHV4-61 HGNC HGNC:5655 IG_V_gene YES ENSP00000375039 A0A0C4DH41 UPI000011B546 tolerated_low_confidence(0.6) benign(0) 2/2 0.0501 0.0598 0.0058 0.0149 0.1564 MODERATE 1 SNV PASS CTA . . 106639321 IGHV4-61 . GRCh38 chr14 106639333 106639333 + Missense_Mutation SNP C C T rs2072046 7316-3575 BS_TTZA89Y4 C C c.142G>A p.Val48Ile p.V48I ENST00000390630 2/2 85 74 9 36 36 0 IGHV4-61,missense_variant,p.Val48Ile,ENST00000390630,;RNA5SP389,downstream_gene_variant,,ENST00000362610,;,regulatory_region_variant,,ENSR00000073899,;,regulatory_region_variant,,ENSR00000276414,;IGHVII-60-1,upstream_gene_variant,,ENST00000519079,;IGHV3-62,downstream_gene_variant,,ENST00000520057,; T ENSG00000211970 ENST00000390630 Transcript missense_variant 243/457 142/356 48/118 V/I Gtc/Atc rs2072046 1 -1 IGHV4-61 HGNC HGNC:5655 IG_V_gene YES ENSP00000375039 A0A0C4DH41 UPI000011B546 tolerated_low_confidence(1) benign(0) 2/2 28492228 MODERATE 1 SNV PASS ACG . . 0.2921 0.6998 0.2119 0.3559 0.274 0.208 0.2096 0.26 0.5578 106639333 IGHV4-61 . GRCh38 chr14 106639372 106639372 + Missense_Mutation SNP C C G rs201453364 7316-3575 BS_TTZA89Y4 C C c.103G>C p.Glu35Gln p.E35Q ENST00000390630 2/2 90 81 9 39 39 0 IGHV4-61,missense_variant,p.Glu35Gln,ENST00000390630,;RNA5SP389,downstream_gene_variant,,ENST00000362610,;,regulatory_region_variant,,ENSR00000073899,;,regulatory_region_variant,,ENSR00000276414,;IGHVII-60-1,upstream_gene_variant,,ENST00000519079,;IGHV3-62,downstream_gene_variant,,ENST00000520057,; G ENSG00000211970 ENST00000390630 Transcript missense_variant 204/457 103/356 35/118 E/Q Gag/Cag rs201453364 1 -1 IGHV4-61 HGNC HGNC:5655 IG_V_gene YES ENSP00000375039 A0A0C4DH41 UPI000011B546 tolerated_low_confidence(1) benign(0.111) 2/2 0.2294 0.5061 0.1066 0.1399 0.0984 0.1697 28492228 MODERATE 1 SNV PASS TCC . . 0.04175 0.2573 0.03191 0.03158 0.06148 0.03792 0.01629 0.03612 0.09361 106639372 NPIPB11 . GRCh38 chr16 29383062 29383062 + Missense_Mutation SNP A A G rs548760421 7316-3575 BS_TTZA89Y4 A A c.1870T>C p.Tyr624His p.Y624H ENST00000524087 8/8 36 21 8 24 23 0 NPIPB11,missense_variant,p.Tyr624His,ENST00000524087,NM_001310137.1;NPIPB11,downstream_gene_variant,,ENST00000614927,;AC025279.3,downstream_gene_variant,,ENST00000622398,; G ENSG00000254206 ENST00000524087 Transcript missense_variant 1945/3653 1870/3486 624/1161 Y/H Tac/Cac rs548760421 1 -1 NPIPB11 HGNC HGNC:37453 protein_coding YES ENSP00000430853 E5RHQ5 UPI0001E8F094 NM_001310137.1 tolerated_low_confidence(1) benign(0.03) 8/8 0.0012 0.003 0.002 MODERATE 1 SNV 5 PASS TAT . . 0.0001588 6.853e-05 6.025e-05 0.0002946 0.0001338 29383062 NOS2 . GRCh38 chr17 27760742 27760742 + Missense_Mutation SNP G G A rs1258316978 7316-3575 BS_TTZA89Y4 G G c.2891C>T p.Ala964Val p.A964V ENST00000313735 24/27 88 81 6 49 48 0 NOS2,missense_variant,p.Ala964Val,ENST00000313735,NM_000625.4;NOS2,missense_variant,p.Ala963Val,ENST00000646938,;NOS2,missense_variant,p.Ala925Val,ENST00000621962,;,regulatory_region_variant,,ENSR00000282953,; A ENSG00000007171 ENST00000313735 Transcript missense_variant,splice_region_variant 3125/4176 2891/3462 964/1153 A/V gCc/gTc rs1258316978,COSM5017241 1 -1 NOS2 HGNC HGNC:7873 protein_coding YES CCDS11223.1 ENSP00000327251 P35228 UPI000011D645 NM_000625.4 tolerated(0.05) benign(0.006) 24/27 Gene3D:3.40.50.80,PIRSF_domain:PIRSF000333,PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF56,Superfamily_domains:SSF63380 0,1 MODERATE 1 SNV 1 0,1 1 PASS GGC . . 27760742 NOS2 . GRCh38 chr17 27760746 27760746 + Splice_Site SNP T T G rs1337800290 7316-3575 BS_TTZA89Y4 T T c.2889-2A>C p.X963_splice ENST00000313735 91 84 6 50 49 0 NOS2,splice_acceptor_variant,,ENST00000313735,NM_000625.4;NOS2,splice_acceptor_variant,,ENST00000621962,;NOS2,splice_acceptor_variant,,ENST00000646938,;,regulatory_region_variant,,ENSR00000282953,; G ENSG00000007171 ENST00000313735 Transcript splice_acceptor_variant rs1337800290,COSM5017261 1 -1 NOS2 HGNC HGNC:7873 protein_coding YES CCDS11223.1 ENSP00000327251 P35228 UPI000011D645 NM_000625.4 23/26 0,1 HIGH 1 SNV 1 0,1 1 PASS CTG . . 27760746 CYP4F2 . GRCh38 chr19 15878920 15878920 + Missense_Mutation SNP T T C rs4020346 7316-3575 BS_TTZA89Y4 T T c.1414A>G p.Thr472Ala p.T472A ENST00000221700 13/13 89 80 9 42 42 0 CYP4F2,missense_variant,p.Thr472Ala,ENST00000221700,NM_001082.4;CYP4F2,missense_variant,p.Thr472Ala,ENST00000011989,;CYP4F2,synonymous_variant,p.Arg68=,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,; C ENSG00000186115 ENST00000221700 Transcript missense_variant 1510/2407 1414/1563 472/520 T/A Acg/Gcg rs4020346,COSM230368 1 -1 CYP4F2 HGNC HGNC:2645 protein_coding YES CCDS12336.1 ENSP00000221700 P78329 UPI0000052BE6 NM_001082.4 tolerated(0.29) benign(0.007) 13/13 hmmpanther:PTHR24291:SF112,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTC . . 0.2375 0.3167 0.2927 0.1846 0.2909 0.2938 0.2256 0.2207 0.1307 15878920 ZNF582 . GRCh38 chr19 56384404 56384404 + Missense_Mutation SNP A A G rs1250068328 7316-3575 BS_TTZA89Y4 A A c.1013T>C p.Leu338Pro p.L338P ENST00000301310 5/5 72 67 5 36 36 0 ZNF582,missense_variant,p.Leu338Pro,ENST00000301310,NM_144690.2;ZNF582,missense_variant,p.Leu338Pro,ENST00000619584,;ZNF582,missense_variant,p.Leu338Pro,ENST00000586929,NM_001320371.1;ZNF582,intron_variant,,ENST00000589143,;AC006116.4,upstream_gene_variant,,ENST00000589671,;ZNF542P,downstream_gene_variant,,ENST00000467807,;ZNF542P,downstream_gene_variant,,ENST00000490123,;ZNF542P,downstream_gene_variant,,ENST00000495307,;ZNF582,downstream_gene_variant,,ENST00000587778,;ZNF582,downstream_gene_variant,,ENST00000593145,;,regulatory_region_variant,,ENSR00000111752,;SLC25A36P1,upstream_gene_variant,,ENST00000590111,; G ENSG00000018869 ENST00000301310 Transcript missense_variant 1172/2824 1013/1554 338/517 L/P cTc/cCc rs1250068328 1 -1 ZNF582 HGNC HGNC:26421 protein_coding YES CCDS33121.1 ENSP00000301310 Q96NG8 A0A024R4P7 UPI000006D278 NM_144690.2 tolerated(1) benign(0.003) 5/5 Gene3D:2.40.155.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF115,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GAG . . 56384404 ZNF343 . GRCh38 chr20 2483871 2483871 + Missense_Mutation SNP C C G novel 7316-3575 BS_TTZA89Y4 C C c.1213G>C p.Glu405Gln p.E405Q ENST00000612935 8/8 71 62 6 41 39 1 ZNF343,missense_variant,p.Glu405Gln,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Glu364Gln,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Glu274Gln,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; G ENSG00000088876 ENST00000612935 Transcript missense_variant 1627/3675 1213/1923 405/640 E/Q Gag/Cag 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 tolerated(1) benign(0.02) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS TCG . . 2483871 CYP2D6 . GRCh38 chr22 42128818 42128819 + Frame_Shift_Ins INS - - C rs763609904 7316-3575 BS_TTZA89Y4 - - c.631dup p.Glu211GlyfsTer43 p.E211Gfs*43 ENST00000360608 4/9 91 75 11 33 32 0 CYP2D6,frameshift_variant,p.Glu189GlyfsTer43,ENST00000389970,;CYP2D6,frameshift_variant,p.Glu211GlyfsTer43,ENST00000360608,;CYP2D6,frameshift_variant,p.Glu211GlyfsTer43,ENST00000645508,NM_000106.5;CYP2D6,frameshift_variant,p.Glu211GlyfsTer43,ENST00000645361,;CYP2D6,frameshift_variant,p.Glu160GlyfsTer43,ENST00000359033,NM_001025161.2;NDUFA6-DT,intron_variant,,ENST00000439129,;NDUFA6-DT,downstream_gene_variant,,ENST00000417327,;NDUFA6-DT,downstream_gene_variant,,ENST00000434834,;NDUFA6-DT,downstream_gene_variant,,ENST00000451451,;NDUFA6-DT,downstream_gene_variant,,ENST00000536447,;NDUFA6-DT,downstream_gene_variant,,ENST00000595777,;NDUFA6-DT,downstream_gene_variant,,ENST00000600968,;NDUFA6-DT,downstream_gene_variant,,ENST00000610250,;NDUFA6-DT,upstream_gene_variant,,ENST00000617009,;NDUFA6-DT,downstream_gene_variant,,ENST00000617396,;NDUFA6-DT,upstream_gene_variant,,ENST00000621190,;CYP2D6,frameshift_variant,p.Glu100GlyfsTer43,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-DT,downstream_gene_variant,,ENST00000547929,;NDUFA6-DT,downstream_gene_variant,,ENST00000608643,;NDUFA6-DT,downstream_gene_variant,,ENST00000609499,;NDUFA6-DT,downstream_gene_variant,,ENST00000609833,;AC254562.1,upstream_gene_variant,,ENST00000417586,; C ENSG00000100197 ENST00000360608 Transcript frameshift_variant 746-747/1684 631-632/1494 211/497 E/GX gag/gGag rs763609904 1 -1 CYP2D6 HGNC HGNC:2625 protein_coding YES CCDS46721.1 ENSP00000353820 P10635 C1ID52 UPI000015772B 4/9 hmmpanther:PTHR24300:SF1,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264 0.00188 0.003637 HIGH 1 insertion 1 1 PASS CTC . . 0.0005976 0.0002099 0.0003307 0.0002074 0.001175 0.0003655 0.0008539 0.0003737 0.0001662 42128818 HCRTR1 . GRCh38 chr1 31620940 31620940 + Missense_Mutation SNP G G A rs767432563 7316-84 BS_8DTDM1MK G G c.476G>A p.Arg159Gln p.R159Q ENST00000403528 4/8 80 73 7 70 69 0 HCRTR1,missense_variant,p.Arg159Gln,ENST00000403528,NM_001525.2;HCRTR1,missense_variant,p.Arg159Gln,ENST00000373706,;HCRTR1,missense_variant,p.Arg159Gln,ENST00000373705,;HCRTR1,non_coding_transcript_exon_variant,,ENST00000468521,;HCRTR1,non_coding_transcript_exon_variant,,ENST00000485464,; A ENSG00000121764 ENST00000403528 Transcript missense_variant 863/2003 476/1278 159/425 R/Q cGg/cAg rs767432563,COSM3487987,COSM3487986 1 1 HCRTR1 HGNC HGNC:4848 protein_coding YES CCDS344.1 ENSP00000384387 O43613 UPI0000038135 NM_001525.2 tolerated(0.18) benign(0.005) 4/8 PDB-ENSP_mappings:4zj8.A,PDB-ENSP_mappings:4zjc.A,cd15208,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF30,hmmpanther:PTHR24241,Prints_domain:PR01064 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CGG . . 2.031e-05 8.934e-05 8.957e-06 3.249e-05 31620940 GUCY1A1 . GRCh38 chr4 155708286 155708286 + Missense_Mutation SNP T T C novel 7316-84 BS_8DTDM1MK T T c.368T>C p.Val123Ala p.V123A ENST00000296518 5/10 98 90 8 63 63 0 GUCY1A1,missense_variant,p.Val123Ala,ENST00000296518,;GUCY1A1,missense_variant,p.Val123Ala,ENST00000511108,NM_000856.5;GUCY1A1,missense_variant,p.Val123Ala,ENST00000506455,NM_001130682.2;GUCY1A1,missense_variant,p.Val123Ala,ENST00000513574,NM_001130684.2;GUCY1A1,missense_variant,p.Val123Ala,ENST00000455639,NM_001130683.3,NM_001256449.1;GUCY1A1,missense_variant,p.Val123Ala,ENST00000511507,NM_001130687.2;GUCY1A1,missense_variant,p.Val123Ala,ENST00000621234,;GUCY1A1,5_prime_UTR_variant,,ENST00000393832,NM_001130685.2;GUCY1A1,non_coding_transcript_exon_variant,,ENST00000515602,;GUCY1A1,missense_variant,p.Val123Ala,ENST00000443668,;GUCY1A1,missense_variant,p.Val123Ala,ENST00000515201,;GUCY1A1,non_coding_transcript_exon_variant,,ENST00000512983,;GUCY1A1,intron_variant,,ENST00000509901,; C ENSG00000164116 ENST00000296518 Transcript missense_variant 577/4400 368/2073 123/690 V/A gTt/gCt 1 1 GUCY1A1 HGNC HGNC:4685 protein_coding YES CCDS34085.1 ENSP00000296518 Q02108 UPI0000033343 tolerated(1) benign(0.007) 5/10 hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF226,Gene3D:3.90.1520.10,Pfam_domain:PF07700,Superfamily_domains:SSF111126 MODERATE 1 SNV 1 1 PASS GTT . . 155708286 SLC26A7 . GRCh38 chr8 91393801 91393801 + Missense_Mutation SNP A A C rs764060979 7316-84 BS_8DTDM1MK A A c.1781A>C p.Tyr594Ser p.Y594S ENST00000309536 17/19 96 77 19 90 89 0 SLC26A7,missense_variant,p.Tyr594Ser,ENST00000276609,NM_052832.3;SLC26A7,missense_variant,p.Tyr594Ser,ENST00000617233,;SLC26A7,missense_variant,p.Tyr293Ser,ENST00000617078,NM_001282357.1;SLC26A7,missense_variant,p.Tyr594Ser,ENST00000523719,NM_001282356.1;SLC26A7,missense_variant,p.Tyr594Ser,ENST00000309536,NM_134266.1;SLC26A7,non_coding_transcript_exon_variant,,ENST00000520249,;SLC26A7,non_coding_transcript_exon_variant,,ENST00000517930,;SLC26A7,3_prime_UTR_variant,,ENST00000522181,;,regulatory_region_variant,,ENSR00000226909,;,regulatory_region_variant,,ENSR00000332224,; C ENSG00000147606 ENST00000309536 Transcript missense_variant 2001/2656 1781/1992 594/663 Y/S tAc/tCc rs764060979 1 1 SLC26A7 HGNC HGNC:14467 protein_coding YES CCDS6255.1 ENSP00000309504 Q8TE54 UPI0000046B1C NM_134266.1 tolerated(0.37) benign(0.329) 17/19 PROSITE_profiles:PS50801,cd07042,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF75,Pfam_domain:PF01740,Gene3D:3.30.750.24,Superfamily_domains:SSF52091 MODERATE 1 SNV 1 PASS TAC . . 4.07e-06 5.798e-05 91393801 ARHGEF1 . GRCh38 chr19 41906481 41906481 + Missense_Mutation SNP T T G novel 7316-84 BS_8DTDM1MK T T c.2561T>G p.Phe854Cys p.F854C ENST00000337665 27/29 71 65 6 84 83 0 ARHGEF1,missense_variant,p.Phe895Cys,ENST00000599846,;ARHGEF1,missense_variant,p.Phe839Cys,ENST00000354532,NM_004706.3;ARHGEF1,missense_variant,p.Phe854Cys,ENST00000337665,NM_199002.1;ARHGEF1,missense_variant,p.Phe806Cys,ENST00000347545,NM_198977.1;ARHGEF1,missense_variant,p.Phe265Cys,ENST00000595723,;ARHGEF1,intron_variant,,ENST00000378152,;ARHGEF1,intron_variant,,ENST00000599589,;ARHGEF1,downstream_gene_variant,,ENST00000594258,;ARHGEF1,downstream_gene_variant,,ENST00000594521,;AC010616.1,downstream_gene_variant,,ENST00000597630,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000600274,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000595897,;ARHGEF1,upstream_gene_variant,,ENST00000593609,;ARHGEF1,downstream_gene_variant,,ENST00000594044,;ARHGEF1,downstream_gene_variant,,ENST00000598444,;ARHGEF1,downstream_gene_variant,,ENST00000598587,;ARHGEF1,downstream_gene_variant,,ENST00000600517,;,regulatory_region_variant,,ENSR00000109722,; G ENSG00000076928 ENST00000337665 Transcript missense_variant 2581/3171 2561/2784 854/927 F/C tTt/tGt 1 1 ARHGEF1 HGNC HGNC:681 protein_coding YES CCDS12590.1 ENSP00000337261 Q92888 UPI0000231C94 NM_199002.1 tolerated(0.1) possibly_damaging(0.614) 27/29 hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF122 MODERATE 1 SNV 1 PASS TTT . . 41906481 EIF3I . GRCh38 chr1 32222613 32222613 + Missense_Mutation SNP A A C 7316-884 BS_VN983YRH A A c.79A>C p.Thr27Pro p.T27P ENST00000373586 2/11 53 42 7 35 35 0 EIF3I,missense_variant,p.Thr27Pro,ENST00000373586,NM_003757.3;EIF3I,missense_variant,p.Thr27Pro,ENST00000355082,;TMEM234,upstream_gene_variant,,ENST00000309777,NM_019118.4;TMEM234,upstream_gene_variant,,ENST00000344461,;TMEM234,upstream_gene_variant,,ENST00000373593,;EIF3I,non_coding_transcript_exon_variant,,ENST00000471486,;EIF3I,non_coding_transcript_exon_variant,,ENST00000483517,;EIF3I,non_coding_transcript_exon_variant,,ENST00000474371,;EIF3I,non_coding_transcript_exon_variant,,ENST00000489353,;TMEM234,upstream_gene_variant,,ENST00000461402,;TMEM234,upstream_gene_variant,,ENST00000466796,;TMEM234,upstream_gene_variant,,ENST00000483001,;TMEM234,upstream_gene_variant,,ENST00000484490,;TMEM234,upstream_gene_variant,,ENST00000487174,;TMEM234,upstream_gene_variant,,ENST00000489170,;TMEM234,upstream_gene_variant,,ENST00000491434,;,regulatory_region_variant,,ENSR00000004333,; C ENSG00000084623 ENST00000373586 Transcript missense_variant 151/1458 79/978 27/325 T/P Act/Cct COSM358094 1 1 EIF3I HGNC HGNC:3272 protein_coding YES CCDS357.1 ENSP00000362688 Q13347 Q5U0F4 UPI000012D2FB NM_003757.3 deleterious(0) possibly_damaging(0.826) 2/11 Gene3D:2.130.10.10,HAMAP:MF_03008,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19877,SMART_domains:SM00320,Superfamily_domains:SSF50978 1 MODERATE 1 SNV 1 1 PASS TAC . . 32222613 A3GALT2 . GRCh38 chr1 33307072 33307072 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.717T>G p.His239Gln p.H239Q ENST00000442999 5/5 70 59 11 35 34 0 A3GALT2,missense_variant,p.His239Gln,ENST00000442999,NM_001080438.1;AL513327.1,upstream_gene_variant,,ENST00000457957,;AL513327.1,upstream_gene_variant,,ENST00000588828,;AL513327.1,upstream_gene_variant,,ENST00000624453,;AL513327.1,upstream_gene_variant,,ENST00000627421,;AL513327.1,upstream_gene_variant,,ENST00000630229,;,regulatory_region_variant,,ENSR00000004496,; C ENSG00000184389 ENST00000442999 Transcript missense_variant 717/1023 717/1023 239/340 H/Q caT/caG 1 -1 A3GALT2 HGNC HGNC:30005 protein_coding YES CCDS60080.1 ENSP00000475261 U3KPV4 UPI0000DD78AC NM_001080438.1 tolerated(0.22) benign(0.039) 5/5 Gene3D:3.90.550.10,Pfam_domain:PF03414,hmmpanther:PTHR10462,hmmpanther:PTHR10462:SF33,Superfamily_domains:SSF53448,cd02515 MODERATE 1 SNV 5 PASS AAT . . 33307072 C1orf122 . GRCh38 chr1 37808410 37808410 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.6A>C p.Glu2Asp p.E2D ENST00000373042 1/3 81 63 13 49 44 0 C1orf122,missense_variant,p.Glu2Asp,ENST00000373042,NM_198446.2;C1orf122,5_prime_UTR_variant,,ENST00000373043,;C1orf122,intron_variant,,ENST00000468084,NM_001142726.1;MTF1,downstream_gene_variant,,ENST00000373036,NM_005955.2;YRDC,upstream_gene_variant,,ENST00000373044,NM_024640.3;C1orf122,intron_variant,,ENST00000419397,;,regulatory_region_variant,,ENSR00000004891,; C ENSG00000197982 ENST00000373042 Transcript missense_variant 265/973 6/333 2/110 E/D gaA/gaC 1 1 C1orf122 HGNC HGNC:24789 protein_coding YES CCDS427.2 ENSP00000362133 Q6ZSJ8 UPI00001D7EAD NM_198446.2 deleterious_low_confidence(0) benign(0.031) 1/3 hmmpanther:PTHR41401,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 37808410 NBPF25P . GRCh38 chr1 145602041 145602042 + Splice_Region INS - - A rs1377031397 7316-884 BS_VN983YRH - - n.39-3dup ENST00000619932 56 45 6 49 47 0 NBPF25P,splice_region_variant,,ENST00000619932,; A ENSG00000272150 ENST00000619932 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1377031397 1 -1 NBPF25P HGNC HGNC:45046 processed_transcript YES 1/19 LOW 1 insertion 2 PASS CTA . . 145602041 PLEKHO1 . GRCh38 chr1 150150275 150150275 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.18T>G p.Asn6Lys p.N6K ENST00000369124 1/6 43 30 9 33 32 0 PLEKHO1,missense_variant,p.Asn6Lys,ENST00000369124,NM_001304723.1,NM_016274.5;PLEKHO1,intron_variant,,ENST00000369126,NM_001304722.1,NM_001304724.1;VPS45,downstream_gene_variant,,ENST00000369128,NM_001279353.1;VPS45,downstream_gene_variant,,ENST00000369130,NM_007259.4;VPS45,downstream_gene_variant,,ENST00000535106,;VPS45,downstream_gene_variant,,ENST00000611412,NM_001279355.1;VPS45,downstream_gene_variant,,ENST00000644510,;VPS45,downstream_gene_variant,,ENST00000644526,;PLEKHO1,upstream_gene_variant,,ENST00000479194,;PLEKHO1,upstream_gene_variant,,ENST00000492304,;VPS45,downstream_gene_variant,,ENST00000477558,;PLEKHO1,upstream_gene_variant,,ENST00000607609,;,regulatory_region_variant,,ENSR00000013473,; G ENSG00000023902 ENST00000369124 Transcript missense_variant 296/2050 18/1230 6/409 N/K aaT/aaG 1 1 PLEKHO1 HGNC HGNC:24310 protein_coding YES CCDS945.1 ENSP00000358120 Q53GL0 UPI000006DFAC NM_001304723.1,NM_016274.5 tolerated(0.17) benign(0.003) 1/6 mobidb-lite,hmmpanther:PTHR15871,hmmpanther:PTHR15871:SF1,Gene3D:2.30.29.30 MODERATE 1 SNV 1 PASS ATT . . 150150275 FLG . GRCh38 chr1 152312382 152312382 + Missense_Mutation SNP T T G rs376730337 7316-884 BS_VN983YRH T T c.2504A>C p.Gln835Pro p.Q835P ENST00000368799 3/3 35 29 5 45 45 0 FLG,missense_variant,p.Gln835Pro,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,; G ENSG00000143631 ENST00000368799 Transcript missense_variant 2540/12747 2504/12186 835/4061 Q/P cAa/cCa rs376730337 1 -1 FLG HGNC HGNC:3748 protein_coding YES CCDS30860.1 ENSP00000357789 P20930 UPI0000470CB3 NM_002016.1 tolerated(0.2) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF45 MODERATE 1 SNV 1 1 PASS TTG . . 4.063e-06 8.962e-06 152312382 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 76 60 14 42 42 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 SLC30A1 . GRCh38 chr1 211578611 211578611 + Translation_Start_Site SNP A A C novel 7316-884 BS_VN983YRH A A c.2T>G p.Met1? p.M1? ENST00000367001 1/2 68 54 11 49 49 0 SLC30A1,start_lost,p.Met1?,ENST00000367001,NM_021194.2;AC105275.2,downstream_gene_variant,,ENST00000567907,;,regulatory_region_variant,,ENSR00000019571,; C ENSG00000170385 ENST00000367001 Transcript start_lost 132/5474 2/1524 1/507 M/R aTg/aGg 1 -1 SLC30A1 HGNC HGNC:11012 protein_coding YES CCDS1499.1 ENSP00000355968 Q9Y6M5 UPI000013EBA0 NM_021194.2 deleterious(0) benign(0.206) 1/2 hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562 HIGH 1 SNV 1 PASS CAT . . 211578611 FMN2 . GRCh38 chr1 240093108 240093108 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.999A>C p.Glu333Asp p.E333D ENST00000319653 1/18 69 53 13 52 51 0 FMN2,missense_variant,p.Glu333Asp,ENST00000319653,NM_020066.4,NM_001305424.1;FMN2,intron_variant,,ENST00000447095,;,regulatory_region_variant,,ENSR00000022504,; C ENSG00000155816 ENST00000319653 Transcript missense_variant 1229/6434 999/5169 333/1722 E/D gaA/gaC 1 1 FMN2 HGNC HGNC:14074 protein_coding YES CCDS31069.2 ENSP00000318884 Q9NZ56 UPI00015FA087 NM_020066.4,NM_001305424.1 tolerated_low_confidence(0.39) benign(0.01) 1/18 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF16,Gene3D:2.130.10.10 MODERATE 1 SNV 5 1 PASS AAG . . 240093108 UCN . GRCh38 chr2 27307685 27307685 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.211T>G p.Leu71Val p.L71V ENST00000296099 2/2 82 71 9 36 36 0 UCN,missense_variant,p.Leu71Val,ENST00000296099,NM_003353.3;MPV17,downstream_gene_variant,,ENST00000233545,;TRIM54,downstream_gene_variant,,ENST00000296098,NM_032546.3;MPV17,downstream_gene_variant,,ENST00000357186,;MPV17,downstream_gene_variant,,ENST00000380044,NM_002437.4;TRIM54,downstream_gene_variant,,ENST00000380075,NM_187841.2;MPV17,downstream_gene_variant,,ENST00000402310,;MPV17,downstream_gene_variant,,ENST00000402722,;MPV17,downstream_gene_variant,,ENST00000403262,;MPV17,downstream_gene_variant,,ENST00000405076,;MPV17,downstream_gene_variant,,ENST00000405983,;MPV17,downstream_gene_variant,,ENST00000428910,;MPV17,downstream_gene_variant,,ENST00000430991,;MPV17,downstream_gene_variant,,ENST00000620797,;MPV17,downstream_gene_variant,,ENST00000415514,;MPV17,downstream_gene_variant,,ENST00000426513,;MPV17,downstream_gene_variant,,ENST00000475085,;TRIM54,downstream_gene_variant,,ENST00000485306,;TRIM54,downstream_gene_variant,,ENST00000488321,;MPV17,downstream_gene_variant,,ENST00000616446,;MPV17,downstream_gene_variant,,ENST00000616707,;MPV17,downstream_gene_variant,,ENST00000617583,;MPV17,downstream_gene_variant,,ENST00000621183,;MPV17,downstream_gene_variant,,ENST00000621470,;MPV17,downstream_gene_variant,,ENST00000622003,; C ENSG00000163794 ENST00000296099 Transcript missense_variant 510/795 211/375 71/124 L/V Ttg/Gtg 1 -1 UCN HGNC HGNC:12516 protein_coding YES CCDS1747.1 ENSP00000296099 P55089 UPI000003284B NM_003353.3 tolerated_low_confidence(0.21) benign(0) 2/2 Low_complexity_(Seg):seg,hmmpanther:PTHR15035:SF11,hmmpanther:PTHR15035 MODERATE 1 SNV 1 PASS AAT . . 27307685 NRXN1 . GRCh38 chr2 50053389 50053389 + Missense_Mutation SNP T T A novel 7316-884 BS_VN983YRH T T c.4130A>T p.Glu1377Val p.E1377V ENST00000404971 22/24 86 74 10 18 18 0 NRXN1,missense_variant,p.Glu1307Val,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Glu1329Val,ENST00000625672,;NRXN1,missense_variant,p.Glu1377Val,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Glu1337Val,ENST00000401669,;NRXN1,missense_variant,p.Glu1325Val,ENST00000405472,;NRXN1,missense_variant,p.Glu1329Val,ENST00000630543,;NRXN1,missense_variant,p.Glu272Val,ENST00000342183,NM_138735.2;NRXN1,missense_variant,p.Glu302Val,ENST00000401710,;NRXN1,missense_variant,p.Glu302Val,ENST00000628364,;NRXN1,missense_variant,p.Glu28Val,ENST00000611589,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637889,;NRXN1,non_coding_transcript_exon_variant,,ENST00000635264,;NRXN1,3_prime_UTR_variant,,ENST00000637906,; A ENSG00000179915 ENST00000404971 Transcript missense_variant 5470/7578 4130/4644 1377/1547 E/V gAg/gTg 1 -1 NRXN1 HGNC HGNC:8008 protein_coding YES CCDS46282.1 ENSP00000385142 Q9ULB1 UPI00015A218A NM_001135659.1 tolerated(0.16) benign(0.062) 22/24 Low_complexity_(Seg):seg,hmmpanther:PTHR44287,hmmpanther:PTHR44287:SF2 MODERATE 1 SNV 1 1 PASS CTC . . 50053389 KIAA1211L . GRCh38 chr2 98822034 98822034 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.2239A>C p.Lys747Gln p.K747Q ENST00000397899 7/10 69 59 10 39 37 0 KIAA1211L,missense_variant,p.Lys747Gln,ENST00000397899,NM_207362.2;KIAA1211L,downstream_gene_variant,,ENST00000423771,;KIAA1211L,non_coding_transcript_exon_variant,,ENST00000464413,;KIAA1211L,downstream_gene_variant,,ENST00000462314,; G ENSG00000196872 ENST00000397899 Transcript missense_variant 2571/3907 2239/2889 747/962 K/Q Aag/Cag 1 -1 KIAA1211L HGNC HGNC:33454 protein_coding YES CCDS42720.1 ENSP00000380996 Q6NV74 UPI0000E59245 NM_207362.2 deleterious(0) probably_damaging(0.997) 7/10 hmmpanther:PTHR45017,mobidb-lite MODERATE 1 SNV 1 PASS TTT . . 98822034 ECEL1 . GRCh38 chr2 232486539 232486539 + Missense_Mutation SNP A A C rs560803020 7316-884 BS_VN983YRH A A c.115T>G p.Leu39Val p.L39V ENST00000304546 2/18 92 67 11 49 49 0 ECEL1,missense_variant,p.Leu39Val,ENST00000304546,NM_004826.3;ECEL1,missense_variant,p.Leu39Val,ENST00000409941,NM_001290787.1;ECEL1,upstream_gene_variant,,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;,regulatory_region_variant,,ENSR00000131948,; C ENSG00000171551 ENST00000304546 Transcript missense_variant 326/2865 115/2328 39/775 L/V Ttg/Gtg rs560803020 1 -1 ECEL1 HGNC HGNC:3147 protein_coding YES CCDS2493.1 ENSP00000302051 O95672 UPI000013E997 NM_004826.3 deleterious(0.03) benign(0.01) 2/18 hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF195 MODERATE 1 SNV 1 1 PASS AAC . . 232486539 STT3B . GRCh38 chr3 31533099 31533099 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.101A>C p.His34Pro p.H34P ENST00000295770 1/16 41 31 8 33 32 1 STT3B,missense_variant,p.His34Pro,ENST00000295770,NM_178862.2;STT3B,non_coding_transcript_exon_variant,,ENST00000453168,;STT3B,non_coding_transcript_exon_variant,,ENST00000423527,;STT3B,upstream_gene_variant,,ENST00000462235,;,regulatory_region_variant,,ENSR00000150420,; C ENSG00000163527 ENST00000295770 Transcript missense_variant 310/4248 101/2481 34/826 H/P cAc/cCc 1 1 STT3B HGNC HGNC:30611 protein_coding YES CCDS2650.1 ENSP00000295770 Q8TCJ2 UPI000006D7FB NM_178862.2 tolerated_low_confidence(0.33) benign(0.007) 1/16 mobidb-lite MODERATE 1 SNV 1 1 PASS CAC . . 31533099 H1FX . GRCh38 chr3 129315854 129315854 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.49A>C p.Met17Leu p.M17L ENST00000333762 1/1 41 29 12 44 43 0 H1FX,missense_variant,p.Met17Leu,ENST00000333762,NM_006026.3;H1FX-AS1,non_coding_transcript_exon_variant,,ENST00000511998,;H1FX-AS1,intron_variant,,ENST00000433902,;H1FX-AS1,upstream_gene_variant,,ENST00000383461,;H1FX-AS1,upstream_gene_variant,,ENST00000502789,;,regulatory_region_variant,,ENSR00000158211,; G ENSG00000184897 ENST00000333762 Transcript missense_variant 424/1507 49/642 17/213 M/L Atg/Ctg 1 -1 H1FX HGNC HGNC:4722 protein_coding YES CCDS3057.1 ENSP00000329662 Q92522 UPI000012BF2F NM_006026.3 tolerated(0.14) benign(0) 1/1 hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF21 MODERATE SNV PASS ATT . . 129315854 NPHP3 . GRCh38 chr3 132715162 132715163 + Frame_Shift_Del DEL AA AA - novel 7316-884 BS_VN983YRH AA AA c.879_880del p.Leu295ValfsTer3 p.L295Vfs*3 ENST00000337331 5/27 62 48 11 41 38 0 NPHP3,frameshift_variant,p.Leu295ValfsTer3,ENST00000337331,NM_153240.4;NPHP3,non_coding_transcript_exon_variant,,ENST00000476742,;NPHP3,downstream_gene_variant,,ENST00000471145,;NPHP3-ACAD11,frameshift_variant,p.Leu295ValfsTer3,ENST00000471702,;NPHP3,frameshift_variant,p.Leu197ValfsTer3,ENST00000465756,;NPHP3,3_prime_UTR_variant,,ENST00000469232,;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,; - ENSG00000113971 ENST00000337331 Transcript frameshift_variant 966-967/4362 879-880/3993 293-294/1330 HS/HX caTTct/cact 1 -1 NPHP3 HGNC HGNC:7907 protein_coding YES CCDS3078.1 ENSP00000338766 Q7Z494 UPI00001B6B30 NM_153240.4 5/27 Gene3D:3.40.50.300,hmmpanther:PTHR19871,hmmpanther:PTHR19871:SF17 HIGH 1 deletion 1 1 PASS AGAAT . . 132715161 SAP30 . GRCh38 chr4 173371283 173371283 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.101A>C p.Asn34Thr p.N34T ENST00000296504 1/4 52 39 12 42 42 0 SAP30,missense_variant,p.Asn34Thr,ENST00000296504,NM_003864.3;AC097534.2,upstream_gene_variant,,ENST00000608794,;AC097534.2,upstream_gene_variant,,ENST00000608892,;AC097534.2,upstream_gene_variant,,ENST00000609153,;AC097534.2,upstream_gene_variant,,ENST00000609900,;SAP30,downstream_gene_variant,,ENST00000504618,;,regulatory_region_variant,,ENSR00000176229,; C ENSG00000164105 ENST00000296504 Transcript missense_variant 341/1108 101/663 34/220 N/T aAc/aCc 1 1 SAP30 HGNC HGNC:10532 protein_coding YES CCDS3817.1 ENSP00000296504 O75446 UPI000006F36D NM_003864.3 tolerated_low_confidence(0.28) benign(0.003) 1/4 Low_complexity_(Seg):seg,hmmpanther:PTHR13286,hmmpanther:PTHR13286:SF7 MODERATE 1 SNV 1 PASS AAC . . 173371283 TRIM23 . GRCh38 chr5 65611631 65611631 + Missense_Mutation SNP T T C rs1472824620 7316-884 BS_VN983YRH T T c.617A>G p.Lys206Arg p.K206R ENST00000231524 4/11 73 49 24 35 35 0 TRIM23,missense_variant,p.Lys206Arg,ENST00000231524,NM_001656.3;TRIM23,missense_variant,p.Lys206Arg,ENST00000381018,NM_033227.2;TRIM23,missense_variant,p.Lys206Arg,ENST00000274327,NM_033228.2;TRIM23,upstream_gene_variant,,ENST00000508808,;TRIM23,intron_variant,,ENST00000506400,;TRIM23,downstream_gene_variant,,ENST00000505205,;,regulatory_region_variant,,ENSR00000181597,; C ENSG00000113595 ENST00000231524 Transcript missense_variant 989/4186 617/1725 206/574 K/R aAa/aGa rs1472824620 1 -1 TRIM23 HGNC HGNC:660 protein_coding YES CCDS3987.1 ENSP00000231524 P36406 UPI0000125DB3 NM_001656.3 tolerated(0.35) probably_damaging(0.991) 4/11 hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF163,SMART_domains:SM00336,Superfamily_domains:SSF57845 MODERATE 1 SNV 1 PASS TTT . . 8.129e-06 1.793e-05 65611631 PITX1 . GRCh38 chr5 135031515 135031515 + Splice_Region SNP T T G novel 7316-884 BS_VN983YRH T T c.170-7A>C ENST00000265340 94 85 7 40 40 0 PITX1,splice_region_variant,,ENST00000265340,NM_002653.4;PITX1,splice_region_variant,,ENST00000502676,;PITX1,splice_region_variant,,ENST00000503586,;PITX1,splice_region_variant,,ENST00000506438,;PITX1,splice_region_variant,,ENST00000507253,;C5orf66,upstream_gene_variant,,ENST00000505828,;C5orf66,upstream_gene_variant,,ENST00000507641,;AC008406.3,upstream_gene_variant,,ENST00000620001,;C5orf66,upstream_gene_variant,,ENST00000624272,NM_001277348.1;PITX1,non_coding_transcript_exon_variant,,ENST00000504936,;,regulatory_region_variant,,ENSR00000187136,; G ENSG00000069011 ENST00000265340 Transcript splice_region_variant,intron_variant 1 -1 PITX1 HGNC HGNC:9004 protein_coding YES CCDS4182.1 ENSP00000265340 P78337 X5D9A5 UPI0000169650 NM_002653.4 1/2 LOW 1 SNV 1 1 PASS GTA . . 135031515 ARAP3 . GRCh38 chr5 141671907 141671907 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.1659T>G p.Asn553Lys p.N553K ENST00000239440 11/33 62 53 7 47 45 0 ARAP3,missense_variant,p.Asn553Lys,ENST00000239440,NM_022481.5;ARAP3,missense_variant,p.Asn475Lys,ENST00000626478,;ARAP3,missense_variant,p.Asn475Lys,ENST00000508305,;ARAP3,missense_variant,p.Asn215Lys,ENST00000513878,;ARAP3,downstream_gene_variant,,ENST00000504448,;ARAP3,downstream_gene_variant,,ENST00000524066,; C ENSG00000120318 ENST00000239440 Transcript missense_variant 1725/5250 1659/4635 553/1544 N/K aaT/aaG 1 -1 ARAP3 HGNC HGNC:24097 protein_coding YES CCDS4266.1 ENSP00000239440 Q8WWN8 UPI0000049886 NM_022481.5 deleterious(0) possibly_damaging(0.854) 11/33 Pfam_domain:PF01412,PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF250,SMART_domains:SM00105,Superfamily_domains:SSF57863 MODERATE 1 SNV 1 PASS CAT . . 141671907 LSM11 . GRCh38 chr5 157743751 157743751 + Translation_Start_Site SNP A A C novel 7316-884 BS_VN983YRH A A c.1A>C p.Met1? p.M1? ENST00000286307 1/4 97 83 12 53 52 0 LSM11,start_lost,p.Met1?,ENST00000286307,NM_173491.3;THG1L,downstream_gene_variant,,ENST00000231198,NM_001317826.1,NM_001317824.1,NM_001317825.1,NM_017872.4;THG1L,downstream_gene_variant,,ENST00000521655,;THG1L,downstream_gene_variant,,ENST00000523575,;,regulatory_region_variant,,ENSR00000189604,;AC026407.1,downstream_gene_variant,,ENST00000518369,; C ENSG00000155858 ENST00000286307 Transcript start_lost 57/6584 1/1083 1/360 M/L Atg/Ctg 1 1 LSM11 HGNC HGNC:30860 protein_coding YES CCDS4342.1 ENSP00000286307 P83369 UPI0000072830 NM_173491.3 deleterious_low_confidence(0) benign(0.052) 1/4 mobidb-lite HIGH 1 SNV 1 PASS CAT . . 157743751 LTC4S . GRCh38 chr5 179796329 179796329 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.388T>G p.Phe130Val p.F130V ENST00000292596 5/5 80 69 10 44 43 0 LTC4S,missense_variant,p.Phe130Val,ENST00000292596,NM_145867.1;LTC4S,missense_variant,p.Phe73Val,ENST00000401985,;MGAT4B,downstream_gene_variant,,ENST00000292591,NM_014275.4;MGAT4B,downstream_gene_variant,,ENST00000337755,NM_054013.3;LTC4S,downstream_gene_variant,,ENST00000486713,;MGAT4B,downstream_gene_variant,,ENST00000518778,;MGAT4B,downstream_gene_variant,,ENST00000518867,;MGAT4B,downstream_gene_variant,,ENST00000518980,;MGAT4B,downstream_gene_variant,,ENST00000519836,;MGAT4B,downstream_gene_variant,,ENST00000520875,;MGAT4B,downstream_gene_variant,,ENST00000520969,;MGAT4B,downstream_gene_variant,,ENST00000523108,;MIR1229,downstream_gene_variant,,ENST00000408467,;MGAT4B,downstream_gene_variant,,ENST00000521305,;MGAT4B,downstream_gene_variant,,ENST00000522293,;MGAT4B,downstream_gene_variant,,ENST00000523382,;LTC4S,3_prime_UTR_variant,,ENST00000505170,;LTC4S,non_coding_transcript_exon_variant,,ENST00000465572,;LTC4S,non_coding_transcript_exon_variant,,ENST00000509898,;LTC4S,downstream_gene_variant,,ENST00000466071,;LTC4S,downstream_gene_variant,,ENST00000510544,;MGAT4B,downstream_gene_variant,,ENST00000518702,;MGAT4B,downstream_gene_variant,,ENST00000520822,;MGAT4B,downstream_gene_variant,,ENST00000520918,;MGAT4B,downstream_gene_variant,,ENST00000521855,;MGAT4B,downstream_gene_variant,,ENST00000522451,;MGAT4B,downstream_gene_variant,,ENST00000523329,;,regulatory_region_variant,,ENSR00000191592,;,TF_binding_site_variant,,MA0062.2,; G ENSG00000213316 ENST00000292596 Transcript missense_variant 483/666 388/453 130/150 F/V Ttc/Gtc 1 1 LTC4S HGNC HGNC:6719 protein_coding YES CCDS34316.1 ENSP00000292596 Q16873 UPI0000043F83 NM_145867.1 deleterious(0.02) possibly_damaging(0.845) 5/5 PDB-ENSP_mappings:2pno.A,PDB-ENSP_mappings:2pno.B,PDB-ENSP_mappings:2pno.C,PDB-ENSP_mappings:2pno.D,PDB-ENSP_mappings:2pno.E,PDB-ENSP_mappings:2pno.F,PDB-ENSP_mappings:2pno.G,PDB-ENSP_mappings:2pno.H,PDB-ENSP_mappings:2pno.I,PDB-ENSP_mappings:2pno.J,PDB-ENSP_mappings:2pno.K,PDB-ENSP_mappings:2pno.L,PDB-ENSP_mappings:2uuh.A,PDB-ENSP_mappings:2uui.A,PDB-ENSP_mappings:3b29.A,PDB-ENSP_mappings:3hkk.A,PDB-ENSP_mappings:3leo.A,PDB-ENSP_mappings:3pcv.A,PDB-ENSP_mappings:4bpm.A,PDB-ENSP_mappings:4j7t.A,PDB-ENSP_mappings:4j7y.A,PDB-ENSP_mappings:4jc7.A,PDB-ENSP_mappings:4jcz.A,PDB-ENSP_mappings:4jrz.A,PDB-ENSP_mappings:4wab.A,PDB-ENSP_mappings:5hv9.A,Low_complexity_(Seg):seg,hmmpanther:PTHR10250:SF4,hmmpanther:PTHR10250,Gene3D:1.20.120.550,Superfamily_domains:SSF161084,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CTT . . 179796329 FLT4 . GRCh38 chr5 180649526 180649526 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.20T>G p.Leu7Arg p.L7R ENST00000261937 1/30 94 78 9 45 44 0 FLT4,missense_variant,p.Leu7Arg,ENST00000261937,NM_182925.4;FLT4,missense_variant,p.Leu7Arg,ENST00000393347,NM_002020.4;FLT4,missense_variant,p.Leu7Arg,ENST00000502649,NM_001354989.1;FLT4,missense_variant,p.Leu7Arg,ENST00000619105,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000502293,;FLT4,non_coding_transcript_exon_variant,,ENST00000513527,;,regulatory_region_variant,,ENSR00000191681,; C ENSG00000037280 ENST00000261937 Transcript missense_variant 99/5857 20/4092 7/1363 L/R cTg/cGg 1 -1 FLT4 HGNC HGNC:3767 protein_coding YES CCDS4457.1 ENSP00000261937 P35916 UPI00001488E7 NM_182925.4 deleterious(0.04) benign(0.137) 1/30 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF000615,Prints_domain:PR01835 MODERATE 1 SNV 1 1 PASS CAG . . 180649526 ITPR3 . GRCh38 chr6 33674253 33674253 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.3104T>G p.Met1035Arg p.M1035R ENST00000374316 25/59 50 44 5 39 38 0 ITPR3,missense_variant,p.Met1035Arg,ENST00000374316,;ITPR3,missense_variant,p.Met1035Arg,ENST00000605930,NM_002224.3; G ENSG00000096433 ENST00000374316 Transcript missense_variant 4164/9870 3104/8016 1035/2671 M/R aTg/aGg 1 1 ITPR3 HGNC HGNC:6182 protein_coding YES CCDS4783.1 ENSP00000363435 Q14573 UPI000013CB74 deleterious(0.02) benign(0.045) 25/59 hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715 MODERATE 1 SNV 5 1 PASS ATG . . 33674253 GPR6 . GRCh38 chr6 109979209 109979209 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.142A>C p.Thr48Pro p.T48P ENST00000414000 3/3 54 43 8 48 48 0 GPR6,missense_variant,p.Thr48Pro,ENST00000414000,NM_001286099.1;GPR6,missense_variant,p.Thr33Pro,ENST00000275169,NM_005284.4;,regulatory_region_variant,,ENSR00000322481,; C ENSG00000146360 ENST00000414000 Transcript missense_variant 436/1945 142/1134 48/377 T/P Acg/Ccg 1 1 GPR6 HGNC HGNC:4515 protein_coding YES CCDS69172.1 ENSP00000406986 P46095 UPI0001AE72E0 NM_001286099.1 tolerated_low_confidence(0.21) benign(0) 3/3 hmmpanther:PTHR22750:SF19,hmmpanther:PTHR22750,Prints_domain:PR00649 MODERATE 1 SNV 2 PASS CAC . . 109979209 NACAD . GRCh38 chr7 45085478 45085478 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.702T>G p.Cys234Trp p.C234W ENST00000490531 2/8 75 61 14 50 50 0 NACAD,missense_variant,p.Cys234Trp,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,; C ENSG00000136274 ENST00000490531 Transcript missense_variant 722/4780 702/4689 234/1562 C/W tgT/tgG 1 -1 NACAD HGNC HGNC:22196 protein_coding YES CCDS47582.1 ENSP00000420477 O15069 UPI00001D747D NM_001146334.1 deleterious(0) probably_damaging(0.987) 2/8 hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF1,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AAC . . 45085478 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-884 BS_VN983YRH A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 57 37 20 49 48 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 TACC1 . GRCh38 chr8 38787625 38787625 + Missense_Mutation SNP G G A novel 7316-884 BS_VN983YRH G G c.43G>A p.Ala15Thr p.A15T ENST00000317827 1/13 80 62 14 35 34 0 TACC1,missense_variant,p.Ala15Thr,ENST00000317827,NM_006283.2,NM_001352791.1,NM_001352794.1,NM_001352782.1,NM_001352792.1,NM_001352787.1,NM_001352790.1,NM_001352789.1,NM_001352793.1,NM_001352778.1;TACC1,missense_variant,p.Ala15Thr,ENST00000276520,NM_001122824.1;TACC1,missense_variant,p.Ala15Thr,ENST00000524354,;TACC1,intron_variant,,ENST00000518415,;TACC1,intron_variant,,ENST00000519416,;TACC1,intron_variant,,ENST00000520340,;TACC1,intron_variant,,ENST00000520615,NM_001146216.2;TACC1,intron_variant,,ENST00000521050,;TACC1,intron_variant,,ENST00000521642,;TACC1,intron_variant,,ENST00000522904,;TACC1,upstream_gene_variant,,ENST00000520973,;TACC1,upstream_gene_variant,,ENST00000521528,;TACC1,upstream_gene_variant,,ENST00000521935,;TACC1,intron_variant,,ENST00000522544,;TACC1,intron_variant,,ENST00000522752,;TACC1,intron_variant,,ENST00000523239,;TACC1,upstream_gene_variant,,ENST00000523834,;TACC1,upstream_gene_variant,,ENST00000521154,;,regulatory_region_variant,,ENSR00000223727,; A ENSG00000147526 ENST00000317827 Transcript missense_variant 422/7802 43/2418 15/805 A/T Gcg/Acg 1 1 TACC1 HGNC HGNC:11522 protein_coding YES CCDS6109.1 ENSP00000321703 O75410 UPI000013DACE NM_006283.2,NM_001352791.1,NM_001352794.1,NM_001352782.1,NM_001352792.1,NM_001352787.1,NM_001352790.1,NM_001352789.1,NM_001352793.1,NM_001352778.1 deleterious(0) probably_damaging(0.994) 1/13 hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF12 MODERATE 1 SNV 1 1 PASS GGC . . 38787625 LAPTM4B . GRCh38 chr8 97775885 97775885 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.149A>C p.His50Pro p.H50P ENST00000445593 1/7 83 67 11 32 30 0 LAPTM4B,missense_variant,p.His50Pro,ENST00000445593,;LAPTM4B,missense_variant,p.His50Pro,ENST00000619747,NM_018407.4;LAPTM4B,5_prime_UTR_variant,,ENST00000521545,;LAPTM4B,5_prime_UTR_variant,,ENST00000517924,;RF00019,downstream_gene_variant,,ENST00000365529,;,regulatory_region_variant,,ENSR00000227577,; C ENSG00000104341 ENST00000445593 Transcript missense_variant 829/3173 149/954 50/317 H/P cAc/cCc 1 1 LAPTM4B HGNC HGNC:13646 protein_coding YES CCDS6275.1 ENSP00000402301 Q86VI4 UPI000018F5E2 tolerated_low_confidence(0.2) benign(0) 1/7 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CAC . . 97775885 C8orf76 . GRCh38 chr8 123241341 123241341 + Missense_Mutation SNP A A C rs1166415381 7316-884 BS_VN983YRH A A c.6T>G p.Asp2Glu p.D2E ENST00000276704 1/6 86 70 14 33 31 0 C8orf76,missense_variant,p.Asp2Glu,ENST00000276704,NM_032847.2;ZHX1-C8orf76,intron_variant,,ENST00000357082,NM_001204180.1;ZHX1-C8orf76,intron_variant,,ENST00000622816,;C8orf76,non_coding_transcript_exon_variant,,ENST00000521310,;C8orf76,non_coding_transcript_exon_variant,,ENST00000522477,;C8orf76,upstream_gene_variant,,ENST00000519791,;C8orf76,non_coding_transcript_exon_variant,,ENST00000523726,;C8orf76,upstream_gene_variant,,ENST00000518996,;,regulatory_region_variant,,ENSR00000229972,;UBA52P5,downstream_gene_variant,,ENST00000461723,; C ENSG00000189376 ENST00000276704 Transcript missense_variant 58/1341 6/1143 2/380 D/E gaT/gaG rs1166415381 1 -1 C8orf76 HGNC HGNC:25924 protein_coding YES CCDS6341.1 ENSP00000276704 Q96K31 UPI000006E851 NM_032847.2 tolerated_low_confidence(1) benign(0) 1/6 hmmpanther:PTHR31919 MODERATE 1 SNV 1 PASS AAT . . 1.096e-05 2.324e-05 123241341 ZNF696 . GRCh38 chr8 143296426 143296426 + Missense_Mutation SNP A A C rs1231641517 7316-884 BS_VN983YRH A A c.751A>C p.Asn251His p.N251H ENST00000330143 3/3 77 66 7 38 35 0 ZNF696,missense_variant,p.Asn251His,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; C ENSG00000185730 ENST00000330143 Transcript missense_variant 1160/2795 751/1125 251/374 N/H Aac/Cac rs1231641517 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 tolerated(0.17) benign(0.035) 3/3 Gene3D:2.40.155.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GAA . . 143296426 FAM83H . GRCh38 chr8 143727459 143727459 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.2002T>G p.Phe668Val p.F668V ENST00000388913 5/5 86 75 9 31 29 0 FAM83H,missense_variant,p.Phe668Val,ENST00000388913,NM_198488.3;FAM83H,missense_variant,p.Phe395Val,ENST00000395103,;,regulatory_region_variant,,ENSR00000232135,;,regulatory_region_variant,,ENSR00000333964,; C ENSG00000180921 ENST00000388913 Transcript missense_variant 2128/5654 2002/3540 668/1179 F/V Ttc/Gtc 1 -1 FAM83H HGNC HGNC:24797 protein_coding YES CCDS6410.2 ENSP00000373565 Q6ZRV2 UPI00001D823F NM_198488.3 tolerated(0.05) probably_damaging(0.921) 5/5 hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8,mobidb-lite MODERATE 1 SNV 5 1 PASS AAT . . 143727459 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 98 76 17 38 37 1 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 SCX . GRCh38 chr8 144267065 144267065 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.452A>C p.His151Pro p.H151P ENST00000567180 1/2 68 56 5 41 41 0 SCX,missense_variant,p.His151Pro,ENST00000567180,NM_001080514.2;BOP1,intron_variant,,ENST00000569403,;BOP1,intron_variant,,ENST00000569669,NM_015201.4;MIR7112,upstream_gene_variant,,ENST00000616126,;BOP1,upstream_gene_variant,,ENST00000563210,;BOP1,upstream_gene_variant,,ENST00000568812,;BOP1,upstream_gene_variant,,ENST00000569160,;,regulatory_region_variant,,ENSR00000232225,; C ENSG00000260428 ENST00000567180 Transcript missense_variant 506/999 452/606 151/201 H/P cAc/cCc 1 1 SCX HGNC HGNC:32322 protein_coding YES CCDS43779.1 ENSP00000476384 Q7RTU7 UPI00001D965C NM_001080514.2 tolerated(0.12) benign(0.246) 1/2 Gene3D:4.10.280.10,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF5,mobidb-lite MODERATE 1 SNV 1 PASS CAC . . 144267065 AAED1 . GRCh38 chr9 96655229 96655229 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.53T>G p.Val18Gly p.V18G ENST00000375234 1/6 65 56 7 47 46 0 AAED1,missense_variant,p.Val18Gly,ENST00000375234,NM_153698.1;AAED1,intron_variant,,ENST00000446045,;AAED1,upstream_gene_variant,,ENST00000411939,;AAED1,upstream_gene_variant,,ENST00000464512,;,regulatory_region_variant,,ENSR00000238447,; C ENSG00000158122 ENST00000375234 Transcript missense_variant 53/2863 53/681 18/226 V/G gTc/gGc 1 -1 AAED1 HGNC HGNC:16881 protein_coding YES CCDS35073.1 ENSP00000364382 Q7RTV5 UPI0000160CAE NM_153698.1 tolerated_low_confidence(0.38) benign(0.003) 1/6 MODERATE 1 SNV 1 PASS GAC . . 96655229 SVEP1 . GRCh38 chr9 110579524 110579524 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.20T>G p.Phe7Cys p.F7C ENST00000374469 1/48 54 38 10 47 47 0 SVEP1,missense_variant,p.Phe7Cys,ENST00000401783,;SVEP1,missense_variant,p.Phe7Cys,ENST00000374469,NM_153366.3;SVEP1,missense_variant,p.Phe7Cys,ENST00000374461,;,regulatory_region_variant,,ENSR00000239713,; C ENSG00000165124 ENST00000374469 Transcript missense_variant 215/12194 20/10716 7/3571 F/C tTt/tGt 1 -1 SVEP1 HGNC HGNC:15985 protein_coding YES CCDS48004.1 ENSP00000363593 Q4LDE5 UPI000153DA74 NM_153366.3 deleterious_low_confidence(0) benign(0.436) 1/48 Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 5 PASS AAA . . 110579524 GSN . GRCh38 chr9 121299946 121299946 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.85A>C p.Thr29Pro p.T29P ENST00000373818 1/17 56 45 11 31 31 0 GSN,missense_variant,p.Thr29Pro,ENST00000373818,NM_000177.4;GSN,intron_variant,,ENST00000373808,NM_001127667.1,NM_001127666.1,NM_001353070.1,NM_001353064.1;GSN,intron_variant,,ENST00000373823,NM_001127664.1,NM_001127662.1,NM_001127665.1,NM_198252.2,NM_001353054.1;GSN,intron_variant,,ENST00000394353,NM_001258029.1;GSN,intron_variant,,ENST00000432226,;GSN,intron_variant,,ENST00000449733,NM_001127663.1,NM_001353055.1,NM_001353056.1;GSN,intron_variant,,ENST00000477104,;GSN,intron_variant,,ENST00000545652,NM_001258030.1;GSN,intron_variant,,ENST00000477863,;GSN,intron_variant,,ENST00000483960,;,regulatory_region_variant,,ENSR00000240877,; C ENSG00000148180 ENST00000373818 Transcript missense_variant 154/2657 85/2349 29/782 T/P Act/Cct 1 1 GSN HGNC HGNC:4620 protein_coding YES CCDS6828.1 ENSP00000362924 P06396 UPI000012B3B4 NM_000177.4 tolerated_low_confidence(0.06) benign(0.003) 1/17 hmmpanther:PTHR11977:SF29,hmmpanther:PTHR11977 MODERATE 1 SNV 1 1 PASS CAC . . 121299946 NEURL1 . GRCh38 chr10 103494471 103494471 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.84A>C p.Lys28Asn p.K28N ENST00000369780 1/6 54 34 10 33 32 0 NEURL1,missense_variant,p.Lys28Asn,ENST00000369780,NM_004210.4;NEURL1-AS1,intron_variant,,ENST00000453753,; C ENSG00000107954 ENST00000369780 Transcript missense_variant,splice_region_variant 493/4314 84/1725 28/574 K/N aaA/aaC 1 1 NEURL1 HGNC HGNC:7761 protein_coding YES CCDS7551.1 ENSP00000358795 O76050 UPI0000073F46 NM_004210.4 tolerated_low_confidence(0.5) benign(0.007) 1/6 mobidb-lite,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF13 MODERATE 1 SNV 1 PASS AAG . . 103494471 PTGDR2 . GRCh38 chr11 60852637 60852637 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.1086A>C p.Glu362Asp p.E362D ENST00000332539 2/2 49 39 9 52 51 0 PTGDR2,missense_variant,p.Glu362Asp,ENST00000332539,NM_004778.2;CCDC86,downstream_gene_variant,,ENST00000227520,NM_024098.3;CCDC86,downstream_gene_variant,,ENST00000545580,;AP000777.3,upstream_gene_variant,,ENST00000538705,;CCDC86,downstream_gene_variant,,ENST00000535217,;,regulatory_region_variant,,ENSR00000040152,; G ENSG00000183134 ENST00000332539 Transcript missense_variant 1198/2895 1086/1188 362/395 E/D gaA/gaC 1 -1 PTGDR2 HGNC HGNC:4502 protein_coding YES CCDS7994.1 ENSP00000332812 Q9Y5Y4 UPI00001B011A NM_004778.2 tolerated_low_confidence(0.62) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR24229:SF8,hmmpanther:PTHR24229 MODERATE 1 SNV 1 PASS GTT . . 60852637 ZBTB44 . GRCh38 chr11 130314376 130314376 + Splice_Region SNP T T G novel 7316-884 BS_VN983YRH T T c.-58A>C ENST00000397753 1/10 56 41 8 44 42 1 ZBTB44,splice_region_variant,,ENST00000525842,NM_014155.4;ZBTB44,splice_region_variant,,ENST00000397753,NM_001301098.1;ZBTB44,splice_region_variant,,ENST00000357899,;AP002986.1,upstream_gene_variant,,ENST00000532116,;AP002986.1,upstream_gene_variant,,ENST00000602310,;AP002986.1,upstream_gene_variant,,ENST00000602376,;RN7SL778P,downstream_gene_variant,,ENST00000607160,;ZBTB44,splice_region_variant,,ENST00000445008,;,regulatory_region_variant,,ENSR00000047087,; G ENSG00000196323 ENST00000397753 Transcript splice_region_variant,5_prime_UTR_variant 237/3951 1 -1 ZBTB44 HGNC HGNC:25001 protein_coding YES CCDS73414.1 ENSP00000380861 H7BY22 UPI00001AED95 NM_001301098.1 1/10 LOW 1 SNV 5 PASS CTG . . 130314376 DNAH10 . GRCh38 chr12 123864608 123864608 + Missense_Mutation SNP G G C novel 7316-884 BS_VN983YRH G G c.6568G>C p.Asp2190His p.D2190H ENST00000638045 39/78 65 41 23 41 40 0 DNAH10,missense_variant,p.Asp2251His,ENST00000409039,;DNAH10,missense_variant,p.Asp2190His,ENST00000638045,NM_207437.3;DNAH10,3_prime_UTR_variant,,ENST00000497783,; C ENSG00000197653 ENST00000638045 Transcript missense_variant 6593/13678 6568/13416 2190/4471 D/H Gat/Cat 1 1 DNAH10 HGNC HGNC:2941 protein_coding YES CCDS9255.2 ENSP00000489675 Q8IVF4 UPI00014F7B89 NM_207437.3 deleterious(0) probably_damaging(1) 39/78 Gene3D:3.40.50.300,Pfam_domain:PF07728,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF343,SMART_domains:SM00382,Superfamily_domains:SSF52540 MODERATE 1 SNV 5 PASS TGA . . 123864608 GOLGA3 . GRCh38 chr12 132798480 132798481 + Splice_Region INS - - A rs747085256 7316-884 BS_VN983YRH - - c.1801-4dup ENST00000204726 54 43 6 25 24 0 GOLGA3,splice_region_variant,,ENST00000204726,NM_005895.3;GOLGA3,splice_region_variant,,ENST00000450791,;GOLGA3,splice_region_variant,,ENST00000456883,;GOLGA3,splice_region_variant,,ENST00000545875,NM_001172557.1; A ENSG00000090615 ENST00000204726 Transcript splice_region_variant,intron_variant rs747085256,TMP_ESP_12_133375067_133375067 1 -1 GOLGA3 HGNC HGNC:4426 protein_coding YES CCDS9281.1 ENSP00000204726 Q08378 UPI0000190979 NM_005895.3 8/23 0.01689 0.006421 LOW 1 insertion 5 PASS TTA . . 0.02869 0.03674 0.04571 0.05282 0.0349 0.02767 0.01982 0.02984 0.04023 132798480 N4BP2L1 . GRCh38 chr13 32427964 32427964 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.119T>G p.Phe40Cys p.F40C ENST00000380130 1/5 76 64 6 39 38 0 N4BP2L1,missense_variant,p.Phe40Cys,ENST00000380130,NM_001286459.1,NM_052818.2;N4BP2L1,missense_variant,p.Phe40Cys,ENST00000380139,NM_001286460.1,NM_001079691.1;N4BP2L1,missense_variant,p.Phe18Cys,ENST00000635608,NM_001353632.1;N4BP2L1,missense_variant,p.Phe40Cys,ENST00000613078,;N4BP2L1,missense_variant,p.Phe18Cys,ENST00000464470,;N4BP2L1,missense_variant,p.Phe40Cys,ENST00000380133,;N4BP2L1,missense_variant,p.Phe18Cys,ENST00000495479,NM_001286461.1;N4BP2L2,downstream_gene_variant,,ENST00000357505,NM_001278432.1;N4BP2L2,downstream_gene_variant,,ENST00000399396,NM_033111.4;N4BP2L2,downstream_gene_variant,,ENST00000446957,NM_001320836.1;N4BP2L2,downstream_gene_variant,,ENST00000504114,;AL137247.1,intron_variant,,ENST00000461502,;N4BP2L2,downstream_gene_variant,,ENST00000380121,;N4BP2L2,downstream_gene_variant,,ENST00000503296,;N4BP2L1,missense_variant,p.Phe40Cys,ENST00000459716,;N4BP2L1,missense_variant,p.Phe40Cys,ENST00000635178,;N4BP2L1,missense_variant,p.Phe40Cys,ENST00000343281,;N4BP2L1,non_coding_transcript_exon_variant,,ENST00000472298,;N4BP2L2,downstream_gene_variant,,ENST00000509076,;,regulatory_region_variant,,ENSR00000060900,; C ENSG00000139597 ENST00000380130 Transcript missense_variant 215/3046 119/732 40/243 F/C tTt/tGt 1 -1 N4BP2L1 HGNC HGNC:25037 protein_coding YES CCDS9345.2 ENSP00000369473 Q5TBK1 A0A024RDR5 UPI000003CA35 NM_001286459.1,NM_052818.2 deleterious(0.04) probably_damaging(0.984) 1/5 hmmpanther:PTHR13308:SF5,hmmpanther:PTHR13308 MODERATE 1 SNV 1 PASS AAA . . 32427964 AHNAK2 . GRCh38 chr14 104942913 104942913 + Missense_Mutation SNP C C G rs770338680 7316-884 BS_VN983YRH C C c.12538G>C p.Asp4180His p.D4180H ENST00000333244 7/7 61 52 8 35 35 0 AHNAK2,missense_variant,p.Asp4180His,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 12658/18254 12538/17388 4180/5795 D/H Gac/Cac rs770338680 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 deleterious(0.01) probably_damaging(0.994) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS TCA . . 4.069e-06 2.982e-05 104942913 NBEAP1 . GRCh38 chr15 20670102 20670102 + Splice_Region SNP A A C rs141799738 7316-884 BS_VN983YRH A A n.160-7T>G ENST00000556948 45 20 5 35 21 0 NBEAP1,splice_region_variant,,ENST00000556948,;NBEAP1,intron_variant,,ENST00000554452,; C ENSG00000258590 ENST00000556948 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs141799738 1 -1 NBEAP1 HGNC HGNC:1007 retained_intron YES 1/3 LOW 1 SNV 5 PASS AAA . . 20670102 CHRNA7 . GRCh38 chr15 32030739 32030739 + Splice_Region SNP T T G novel 7316-884 BS_VN983YRH T T c.142+3T>G ENST00000454250 72 56 10 43 42 0 CHRNA7,splice_region_variant,,ENST00000454250,NM_001190455.2;CHRNA7,splice_region_variant,,ENST00000636440,;CHRNA7,intron_variant,,ENST00000306901,NM_000746.5;CHRNA7,intron_variant,,ENST00000635884,;CHRNA7,intron_variant,,ENST00000635978,;CHRNA7,intron_variant,,ENST00000636603,;CHRNA7,intron_variant,,ENST00000637033,;CHRNA7,intron_variant,,ENST00000637183,;CHRNA7,intron_variant,,ENST00000637552,;CHRNA7,intron_variant,,ENST00000638106,;CHRNA7,intron_variant,,ENST00000437966,;CHRNA7,intron_variant,,ENST00000635722,;CHRNA7,intron_variant,,ENST00000636044,;CHRNA7,intron_variant,,ENST00000636295,;CHRNA7,intron_variant,,ENST00000636850,;CHRNA7,intron_variant,,ENST00000637350,;CHRNA7,intron_variant,,ENST00000637519,;CHRNA7,intron_variant,,ENST00000637786,;CHRNA7,intron_variant,,ENST00000637971,;CHRNA7,intron_variant,,ENST00000638031,;CHRNA7,upstream_gene_variant,,ENST00000635759,;CHRNA7,upstream_gene_variant,,ENST00000636271,;CHRNA7,upstream_gene_variant,,ENST00000636647,;,regulatory_region_variant,,ENSR00000074542,; G ENSG00000175344 ENST00000454250 Transcript splice_region_variant,intron_variant 1 1 CHRNA7 HGNC HGNC:1960 protein_coding YES CCDS53924.1 ENSP00000407546 P36544 UPI0000E23BA6 NM_001190455.2 1/9 LOW 1 SNV 2 1 PASS TTT . . 32030739 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 63 44 10 40 38 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 LCMT2 . GRCh38 chr15 43330335 43330335 + Missense_Mutation SNP A A C rs565844819 7316-884 BS_VN983YRH A A c.155T>G p.Ile52Ser p.I52S ENST00000305641 1/1 75 61 10 39 38 0 LCMT2,missense_variant,p.Ile52Ser,ENST00000305641,NM_014793.4;LCMT2,intron_variant,,ENST00000567039,;ADAL,upstream_gene_variant,,ENST00000389651,NM_001324368.1,NM_001324367.1,NM_001012969.3,NM_001324364.1,NM_001324365.1;ADAL,upstream_gene_variant,,ENST00000422466,;ADAL,upstream_gene_variant,,ENST00000428046,NM_001159280.2;ADAL,upstream_gene_variant,,ENST00000562188,NM_001324366.1;ADAL,upstream_gene_variant,,ENST00000610420,;ADAL,upstream_gene_variant,,ENST00000563551,;ADAL,upstream_gene_variant,,ENST00000565555,;,regulatory_region_variant,,ENSR00000075833,; C ENSG00000168806 ENST00000305641 Transcript missense_variant 271/6957 155/2061 52/686 I/S aTt/aGt rs565844819 1 -1 LCMT2 HGNC HGNC:17558 protein_coding YES CCDS10094.1 ENSP00000307214 O60294 UPI00000727F6 NM_014793.4 deleterious(0) probably_damaging(0.971) 1/1 hmmpanther:PTHR13600:SF21,hmmpanther:PTHR13600,Gene3D:3.40.50.150,Pfam_domain:PF04072,Superfamily_domains:SSF53335 MODERATE SNV PASS AAT . . 43330335 PDCD7 . GRCh38 chr15 65133017 65133017 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.765A>C p.Glu255Asp p.E255D ENST00000204549 1/5 67 54 9 44 44 0 PDCD7,missense_variant,p.Glu255Asp,ENST00000204549,NM_005707.1;PDCD7,upstream_gene_variant,,ENST00000560313,;,regulatory_region_variant,,ENSR00000078048,; G ENSG00000090470 ENST00000204549 Transcript missense_variant 820/2851 765/1458 255/485 E/D gaA/gaC 1 -1 PDCD7 HGNC HGNC:8767 protein_coding YES CCDS10201.1 ENSP00000204549 Q8N8D1 Q6IEG3 UPI00000731D7 NM_005707.1 tolerated(0.13) benign(0.003) 1/5 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF16021,hmmpanther:PTHR44604,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 65133017 GOLGA6L9 . GRCh38 chr15 82434369 82434369 + Missense_Mutation SNP G G A rs17846317 7316-884 BS_VN983YRH G G c.769G>A p.Glu257Lys p.E257K ENST00000618348 6/9 47 24 20 38 34 3 GOLGA6L9,missense_variant,p.Glu257Lys,ENST00000618348,NM_001291420.1,NM_198181.3;AC243919.1,downstream_gene_variant,,ENST00000613086,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000618706,;GOLGA6L9,downstream_gene_variant,,ENST00000558668,; A ENSG00000197978 ENST00000618348 Transcript missense_variant 829/1710 769/1299 257/432 E/K Gaa/Aaa rs17846317 1 1 GOLGA6L9 HGNC HGNC:37229 protein_coding YES CCDS45326.1 ENSP00000481078 A6NEM1 UPI000442D01A NM_001291420.1,NM_198181.3 tolerated(0.33) benign(0.012) 6/9 Gene3D:1.20.1170.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF19,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AGA . . 82434369 TICRR . GRCh38 chr15 89575684 89575684 + Missense_Mutation SNP A A C rs373455699 7316-884 BS_VN983YRH A A c.98A>C p.Tyr33Ser p.Y33S ENST00000268138 1/22 89 78 9 38 38 0 TICRR,missense_variant,p.Tyr33Ser,ENST00000268138,NM_152259.3;TICRR,missense_variant,p.Tyr33Ser,ENST00000560985,NM_001308025.1;AC013391.2,intron_variant,,ENST00000559041,;AC013391.1,downstream_gene_variant,,ENST00000560477,;,regulatory_region_variant,,ENSR00000080935,; C ENSG00000140534 ENST00000268138 Transcript missense_variant 203/6775 98/5733 33/1910 Y/S tAt/tCt rs373455699 1 1 TICRR HGNC HGNC:28704 protein_coding YES CCDS10352.2 ENSP00000268138 Q7Z2Z1 UPI0000D61399 NM_152259.3 deleterious(0) benign(0.154) 1/22 hmmpanther:PTHR21556 MODERATE SNV 5 PASS TAT . . 4.642e-06 1.068e-05 89575684 TM2D3 . GRCh38 chr15 101652321 101652321 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.41T>G p.Leu14Trp p.L14W ENST00000333202 1/6 89 76 8 43 43 0 TM2D3,missense_variant,p.Leu14Trp,ENST00000333202,NM_078474.2;TM2D3,missense_variant,p.Leu14Trp,ENST00000559107,NM_001308026.1;TM2D3,missense_variant,p.Leu14Trp,ENST00000347970,NM_025141.3;TM2D3,missense_variant,p.Leu14Trp,ENST00000428002,NM_001307960.1;TARSL2,downstream_gene_variant,,ENST00000335968,NM_152334.2;TM2D3,upstream_gene_variant,,ENST00000558129,;TM2D3,upstream_gene_variant,,ENST00000561373,;TARSL2,downstream_gene_variant,,ENST00000615656,;RNU6-807P,upstream_gene_variant,,ENST00000516805,;TARSL2,downstream_gene_variant,,ENST00000559492,;TM2D3,upstream_gene_variant,,ENST00000560212,;TM2D3,missense_variant,p.Leu14Trp,ENST00000560013,;TM2D3,non_coding_transcript_exon_variant,,ENST00000559024,;TM2D3,non_coding_transcript_exon_variant,,ENST00000561356,;TM2D3,non_coding_transcript_exon_variant,,ENST00000560910,;TARSL2,downstream_gene_variant,,ENST00000539112,;TARSL2,downstream_gene_variant,,ENST00000558533,;TM2D3,upstream_gene_variant,,ENST00000558677,;,regulatory_region_variant,,ENSR00000082069,; C ENSG00000184277 ENST00000333202 Transcript missense_variant 47/1381 41/744 14/247 L/W tTg/tGg 1 -1 TM2D3 HGNC HGNC:24128 protein_coding YES CCDS10393.1 ENSP00000330433 Q9BRN9 UPI00001B02BE NM_078474.2 deleterious(0.01) possibly_damaging(0.817) 1/6 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR21016,hmmpanther:PTHR21016:SF7 MODERATE 1 SNV 1 PASS CAA . . 101652321 RHBDF1 . GRCh38 chr16 61449 61449 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.1331A>C p.Asn444Thr p.N444T ENST00000262316 10/18 74 61 12 33 32 1 RHBDF1,missense_variant,p.Asn444Thr,ENST00000262316,NM_022450.3;SNRNP25,downstream_gene_variant,,ENST00000293861,;SNRNP25,downstream_gene_variant,,ENST00000383018,NM_024571.3;SNRNP25,downstream_gene_variant,,ENST00000417493,;RHBDF1,downstream_gene_variant,,ENST00000419764,;RHBDF1,upstream_gene_variant,,ENST00000448893,;RHBDF1,downstream_gene_variant,,ENST00000450643,;RHBDF1,3_prime_UTR_variant,,ENST00000428730,;RHBDF1,non_coding_transcript_exon_variant,,ENST00000482904,;SNRNP25,downstream_gene_variant,,ENST00000397876,;RHBDF1,downstream_gene_variant,,ENST00000417043,;SNRNP25,downstream_gene_variant,,ENST00000466183,;RHBDF1,downstream_gene_variant,,ENST00000472390,;SNRNP25,downstream_gene_variant,,ENST00000481947,;RHBDF1,upstream_gene_variant,,ENST00000486045,;RHBDF1,downstream_gene_variant,,ENST00000487201,;RHBDF1,upstream_gene_variant,,ENST00000493647,;,regulatory_region_variant,,ENSR00000082117,; G ENSG00000007384 ENST00000262316 Transcript missense_variant 1474/2992 1331/2568 444/855 N/T aAc/aCc 1 -1 RHBDF1 HGNC HGNC:20561 protein_coding YES CCDS32344.1 ENSP00000262316 Q96CC6 UPI00001A5206 NM_022450.3 tolerated(0.18) benign(0.038) 10/18 Gene3D:1.20.1540.10,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF26,Superfamily_domains:SSF144091 MODERATE 1 SNV 1 PASS GTT . . 61449 CRAMP1 . GRCh38 chr16 1614883 1614883 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.244T>G p.Phe82Val p.F82V ENST00000397412 2/21 90 69 13 33 33 0 CRAMP1,missense_variant,p.Phe82Val,ENST00000397412,;CRAMP1,missense_variant,p.Phe82Val,ENST00000293925,NM_020825.3;IFT140,upstream_gene_variant,,ENST00000426508,NM_014714.3;IFT140,upstream_gene_variant,,ENST00000569646,;IFT140,upstream_gene_variant,,ENST00000569812,;AL133297.2,downstream_gene_variant,,ENST00000563162,;IFT140,upstream_gene_variant,,ENST00000439987,;IFT140,upstream_gene_variant,,ENST00000397417,;IFT140,upstream_gene_variant,,ENST00000566052,;,regulatory_region_variant,,ENSR00000279428,; G ENSG00000007545 ENST00000397412 Transcript missense_variant 343/7772 244/3810 82/1269 F/V Ttc/Gtc 1 1 CRAMP1 HGNC HGNC:14122 protein_coding YES CCDS10440.2 ENSP00000380559 Q96RY5 UPI000066D946 deleterious_low_confidence(0) probably_damaging(0.991) 2/21 mobidb-lite MODERATE SNV 5 PASS CTT . . 1614883 SHISA9 . GRCh38 chr16 12902123 12902123 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.59T>G p.Val20Gly p.V20G ENST00000558583 1/5 93 74 11 40 39 0 SHISA9,missense_variant,p.Val20Gly,ENST00000558583,NM_001145204.2;SHISA9,missense_variant,p.Val20Gly,ENST00000423335,NM_001145205.1;SHISA9,missense_variant,p.Val20Gly,ENST00000639941,;SHISA9,upstream_gene_variant,,ENST00000482916,; G ENSG00000237515 ENST00000558583 Transcript missense_variant 504/6724 59/1275 20/424 V/G gTg/gGg 1 1 SHISA9 HGNC HGNC:37231 protein_coding YES CCDS45417.2 ENSP00000454014 B4DS77 UPI0001CE6F1C NM_001145204.2 deleterious(0) benign(0.029) 1/5 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR31774:SF1,hmmpanther:PTHR31774 MODERATE 1 SNV 5 PASS GTG . . 12902123 SEPT1 . GRCh38 chr16 30379479 30379479 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.857A>C p.Asn286Thr p.N286T ENST00000321367 9/12 60 49 10 32 32 0 SEPT1,missense_variant,p.Asn286Thr,ENST00000321367,NM_052838.4;ZNF48,intron_variant,,ENST00000528032,;ZNF48,intron_variant,,ENST00000622647,NM_001214907.1;MYLPF,downstream_gene_variant,,ENST00000322861,NM_013292.4,NM_001324458.1,NM_001324459.1;MYLPF,downstream_gene_variant,,ENST00000563718,;MYLPF,downstream_gene_variant,,ENST00000566955,;MYLPF,downstream_gene_variant,,ENST00000568749,;ZNF48,intron_variant,,ENST00000495929,;SEPT1,downstream_gene_variant,,ENST00000567783,;SEPT1,downstream_gene_variant,,ENST00000570039,;AC116348.4,downstream_gene_variant,,ENST00000624127,;SEPT1,3_prime_UTR_variant,,ENST00000572252,;SEPT1,non_coding_transcript_exon_variant,,ENST00000563957,;SEPT1,non_coding_transcript_exon_variant,,ENST00000573615,;SEPT1,non_coding_transcript_exon_variant,,ENST00000566517,;SEPT1,downstream_gene_variant,,ENST00000562152,;MYLPF,downstream_gene_variant,,ENST00000563728,;SEPT1,downstream_gene_variant,,ENST00000563743,;SEPT1,downstream_gene_variant,,ENST00000568577,; G ENSG00000180096 ENST00000321367 Transcript missense_variant 903/1592 857/1245 286/414 N/T aAc/aCc 1 -1 SEPT1 HGNC HGNC:2879 protein_coding YES CCDS10678.3 ENSP00000324511 J3KNL2 UPI000066D948 NM_052838.4 tolerated(0.16) benign(0) 9/12 Gene3D:3.40.50.300,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF6,Superfamily_domains:SSF52540,cd01850 MODERATE SNV 5 PASS GTT . . 30379479 FBRS . GRCh38 chr16 30659828 30659828 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.310A>C p.Ser104Arg p.S104R ENST00000356166 1/18 93 72 15 32 28 1 FBRS,missense_variant,p.Ser104Arg,ENST00000356166,NM_001105079.2;FBRS,upstream_gene_variant,,ENST00000287468,;PRR14,downstream_gene_variant,,ENST00000300835,NM_024031.3;PRR14,downstream_gene_variant,,ENST00000542965,NM_001320464.1;FBRS,upstream_gene_variant,,ENST00000482749,;PRR14,downstream_gene_variant,,ENST00000571654,;PRR14,downstream_gene_variant,,ENST00000287463,;FBRS,upstream_gene_variant,,ENST00000468966,;FBRS,upstream_gene_variant,,ENST00000484152,;FBRS,upstream_gene_variant,,ENST00000498588,;FBRS,upstream_gene_variant,,ENST00000543786,;PRR14,downstream_gene_variant,,ENST00000564946,;PRR14,downstream_gene_variant,,ENST00000565977,;PRR14,downstream_gene_variant,,ENST00000567322,;PRR14,downstream_gene_variant,,ENST00000567989,;,regulatory_region_variant,,ENSR00000085232,; C ENSG00000156860 ENST00000356166 Transcript missense_variant 1398/5200 310/2943 104/980 S/R Agc/Cgc 1 1 FBRS HGNC HGNC:20442 protein_coding YES CCDS45462.2 ENSP00000348489 J3KNZ9 UPI0000E59D83 NM_001105079.2 deleterious_low_confidence(0) unknown(0) 1/18 mobidb-lite MODERATE SNV 5 PASS CAG . . 30659828 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-884 BS_VN983YRH T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 97 74 14 55 54 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 GAS7 . GRCh38 chr17 10198237 10198237 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.154T>G p.Phe52Val p.F52V ENST00000432992 1/14 106 94 10 53 51 0 GAS7,missense_variant,p.Phe52Val,ENST00000432992,NM_201433.1;,regulatory_region_variant,,ENSR00000091261,; C ENSG00000007237 ENST00000432992 Transcript missense_variant 315/4970 154/1431 52/476 F/V Ttc/Gtc 1 -1 GAS7 HGNC HGNC:4169 protein_coding YES CCDS11152.1 ENSP00000407552 O60861 UPI00001B4B17 NM_201433.1 deleterious(0) benign(0.424) 1/14 Gene3D:2.20.70.10,Pfam_domain:PF14604,PROSITE_profiles:PS50002,SMART_domains:SM00326,Superfamily_domains:SSF50044,cd11829 MODERATE 1 SNV 1 1 PASS AAC . . 10198237 TMUB2 . GRCh38 chr17 44189462 44189462 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.476T>G p.Leu159Arg p.L159R ENST00000587989 3/4 69 58 8 56 56 0 TMUB2,missense_variant,p.Leu139Arg,ENST00000319511,NM_177441.2;TMUB2,missense_variant,p.Leu159Arg,ENST00000587989,;TMUB2,missense_variant,p.Leu159Arg,ENST00000538716,NM_001076674.1;TMUB2,missense_variant,p.Leu139Arg,ENST00000357984,NM_024107.2;TMUB2,missense_variant,p.Leu139Arg,ENST00000589785,;TMUB2,missense_variant,p.Leu102Arg,ENST00000446571,;TMUB2,missense_variant,p.Leu139Arg,ENST00000589856,;TMUB2,missense_variant,p.Leu32Arg,ENST00000587630,;TMUB2,intron_variant,,ENST00000587172,;TMUB2,intron_variant,,ENST00000589184,;TMUB2,intron_variant,,ENST00000590235,;TMUB2,intron_variant,,ENST00000592825,;ATXN7L3,downstream_gene_variant,,ENST00000389384,NM_001098833.1;ATXN7L3,downstream_gene_variant,,ENST00000454077,NM_020218.1;ATXN7L3,downstream_gene_variant,,ENST00000587097,;ATXN7L3,downstream_gene_variant,,ENST00000591295,;ASB16-AS1,upstream_gene_variant,,ENST00000585457,;ASB16-AS1,upstream_gene_variant,,ENST00000588785,;ASB16-AS1,upstream_gene_variant,,ENST00000591166,;ASB16-AS1,upstream_gene_variant,,ENST00000592897,;ATXN7L3,downstream_gene_variant,,ENST00000593073,;TMUB2,stop_lost,p.Ter98GlyextTer40,ENST00000587326,;TMUB2,synonymous_variant,p.Pro59=,ENST00000588413,;TMUB2,synonymous_variant,p.Pro59=,ENST00000587775,;ATXN7L3,downstream_gene_variant,,ENST00000586688,; G ENSG00000168591 ENST00000587989 Transcript missense_variant 629/1969 476/966 159/321 L/R cTg/cGg 1 1 TMUB2 HGNC HGNC:28459 protein_coding YES CCDS54134.1 ENSP00000466971 Q71RG4 UPI0000201381 tolerated(0.52) benign(0.259) 3/4 mobidb-lite,hmmpanther:PTHR14557,hmmpanther:PTHR14557:SF4,Gene3D:3.10.20.90 MODERATE SNV 3 PASS CTG . . 44189462 PPM1E . GRCh38 chr17 58756192 58756192 + Missense_Mutation SNP A A C rs745942068 7316-884 BS_VN983YRH A A c.195A>C p.Glu65Asp p.E65D ENST00000308249 1/7 130 108 16 50 48 0 PPM1E,missense_variant,p.Glu65Asp,ENST00000308249,NM_014906.4;,regulatory_region_variant,,ENSR00000096303,; C ENSG00000175175 ENST00000308249 Transcript missense_variant 324/6542 195/2268 65/755 E/D gaA/gaC rs745942068 1 1 PPM1E HGNC HGNC:19322 protein_coding YES CCDS11613.1 ENSP00000312411 Q8WY54 UPI000013ECF6 NM_014906.4 tolerated_low_confidence(0.2) benign(0) 1/7 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 6.396e-06 4.176e-05 58756192 AATK . GRCh38 chr17 81119986 81119986 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.3833A>C p.Asn1278Thr p.N1278T ENST00000326724 12/14 90 71 11 19 19 0 AATK,missense_variant,p.Asn1278Thr,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Asn1175Thr,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,3_prime_UTR_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,;,TF_binding_site_variant,,MA0139.1,;,TF_binding_site_variant,,MA0531.1,; G ENSG00000181409 ENST00000326724 Transcript missense_variant 3858/5257 3833/4125 1278/1374 N/T aAc/aCc 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 tolerated(0.39) benign(0.001) 12/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,mobidb-lite MODERATE SNV 5 PASS GTT . . 81119986 DSC3 . GRCh38 chr18 31042632 31042632 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.29T>G p.Val10Gly p.V10G ENST00000360428 1/16 77 61 13 35 34 1 DSC3,missense_variant,p.Val10Gly,ENST00000434452,NM_024423.3;DSC3,missense_variant,p.Val10Gly,ENST00000360428,NM_001941.4;,regulatory_region_variant,,ENSR00000101932,; C ENSG00000134762 ENST00000360428 Transcript missense_variant 110/6939 29/2691 10/896 V/G gTg/gGg 1 -1 DSC3 HGNC HGNC:3037 protein_coding YES CCDS32810.1 ENSP00000353608 Q14574 UPI000004CAAD NM_001941.4 tolerated(0.34) benign(0) 1/16 hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF12,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS CAC . . 31042632 ONECUT3 . GRCh38 chr19 1775431 1775431 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.1471T>G p.Phe491Val p.F491V ENST00000382349 2/2 77 63 12 35 33 0 ONECUT3,missense_variant,p.Phe491Val,ENST00000382349,NM_001080488.1;,regulatory_region_variant,,ENSR00000286999,; G ENSG00000205922 ENST00000382349 Transcript missense_variant 2761/8318 1471/1485 491/494 F/V Ttc/Gtc 1 1 ONECUT3 HGNC HGNC:13399 protein_coding YES CCDS45900.1 ENSP00000371786 O60422 UPI000059D61D NM_001080488.1 tolerated_low_confidence(0.18) benign(0.081) 2/2 mobidb-lite,hmmpanther:PTHR14057,hmmpanther:PTHR14057:SF34 MODERATE 1 SNV 5 PASS TTT . . 1775431 SEMA6B . GRCh38 chr19 4543639 4543639 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.2629T>G p.Tyr877Asp p.Y877D ENST00000586582 17/17 78 62 14 46 46 0 SEMA6B,missense_variant,p.Tyr877Asp,ENST00000586582,NM_032108.3;SEMA6B,intron_variant,,ENST00000586965,;LRG1,upstream_gene_variant,,ENST00000306390,NM_052972.2;LRG1,upstream_gene_variant,,ENST00000586883,;AC011498.4,upstream_gene_variant,,ENST00000586020,;SEMA6B,downstream_gene_variant,,ENST00000589889,;,regulatory_region_variant,,ENSR00000106224,; C ENSG00000167680 ENST00000586582 Transcript missense_variant 2940/3986 2629/2667 877/888 Y/D Tat/Gat 1 -1 SEMA6B HGNC HGNC:10739 protein_coding YES CCDS12131.1 ENSP00000467290 Q9H3T3 UPI000004BA6B NM_032108.3 tolerated_low_confidence(0.27) benign(0.029) 17/17 mobidb-lite,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10 MODERATE 1 SNV 1 PASS TAG . . 4543639 KEAP1 . GRCh38 chr19 10489843 10489843 + Missense_Mutation SNP C C G 7316-884 BS_VN983YRH C C c.1336G>C p.Glu446Gln p.E446Q ENST00000171111 4/6 90 74 12 45 43 0 KEAP1,missense_variant,p.Glu446Gln,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Glu446Gln,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Glu53Gln,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;AC011461.1,downstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000590593,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,; G ENSG00000079999 ENST00000171111 Transcript missense_variant 1884/2955 1336/1875 446/624 E/Q Gag/Cag COSM6979735 1 -1 KEAP1 HGNC HGNC:23177 protein_coding YES CCDS12239.1 ENSP00000171111 Q14145 A0A024R7C0 UPI000007139C NM_203500.1 deleterious(0.02) benign(0.119) 4/6 PDB-ENSP_mappings:1u6d.X,PDB-ENSP_mappings:1zgk.A,PDB-ENSP_mappings:2flu.X,PDB-ENSP_mappings:3vng.A,PDB-ENSP_mappings:3vnh.A,PDB-ENSP_mappings:3zgc.A,PDB-ENSP_mappings:3zgc.B,PDB-ENSP_mappings:3zgd.A,PDB-ENSP_mappings:3zgd.B,PDB-ENSP_mappings:4ifj.A,PDB-ENSP_mappings:4ifl.X,PDB-ENSP_mappings:4ifn.X,PDB-ENSP_mappings:4in4.A,PDB-ENSP_mappings:4in4.B,PDB-ENSP_mappings:4in4.C,PDB-ENSP_mappings:4iqk.A,PDB-ENSP_mappings:4l7b.A,PDB-ENSP_mappings:4l7b.B,PDB-ENSP_mappings:4l7c.A,PDB-ENSP_mappings:4l7c.B,PDB-ENSP_mappings:4l7c.C,PDB-ENSP_mappings:4l7d.A,PDB-ENSP_mappings:4l7d.B,PDB-ENSP_mappings:4l7d.C,PDB-ENSP_mappings:4n1b.A,PDB-ENSP_mappings:4n1b.B,PDB-ENSP_mappings:4n1b.C,PDB-ENSP_mappings:4xmb.A,PDB-ENSP_mappings:5f72.C,PDB-ENSP_mappings:5f72.K,PDB-ENSP_mappings:5x54.A,PDB-ENSP_mappings:5x54.B,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF162,Gene3D:2.120.10.80,PIRSF_domain:PIRSF037037,Pfam_domain:PF01344,SMART_domains:SM00612,Superfamily_domains:SSF117281 1 MODERATE 1 SNV 1 1 1 PASS TCT . . 10489843 CCDC130 . GRCh38 chr19 13762739 13762739 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.862A>C p.Ile288Leu p.I288L ENST00000586600 11/11 96 86 10 49 47 1 CCDC130,missense_variant,p.Ile288Leu,ENST00000586600,NM_001320565.1,NM_001320564.1,NM_001320561.1;CCDC130,missense_variant,p.Ile288Leu,ENST00000221554,NM_030818.3;CCDC130,3_prime_UTR_variant,,ENST00000585844,NM_001320568.1,NM_001320567.1,NM_001320566.1;MRI1,upstream_gene_variant,,ENST00000040663,NM_001031727.2;MRI1,upstream_gene_variant,,ENST00000319545,NM_032285.2;CCDC130,downstream_gene_variant,,ENST00000586666,NM_001320569.1;CCDC130,downstream_gene_variant,,ENST00000588809,;CCDC130,downstream_gene_variant,,ENST00000589096,;CCDC130,non_coding_transcript_exon_variant,,ENST00000587019,;CCDC130,non_coding_transcript_exon_variant,,ENST00000589669,;CCDC130,non_coding_transcript_exon_variant,,ENST00000593174,;CCDC130,downstream_gene_variant,,ENST00000540216,;CCDC130,downstream_gene_variant,,ENST00000588071,;MRI1,upstream_gene_variant,,ENST00000588526,;MRI1,upstream_gene_variant,,ENST00000589290,;MRI1,upstream_gene_variant,,ENST00000591688,;MRI1,upstream_gene_variant,,ENST00000593245,; C ENSG00000104957 ENST00000586600 Transcript missense_variant 1365/1922 862/1191 288/396 I/L Atc/Ctc 1 1 CCDC130 HGNC HGNC:28118 protein_coding YES CCDS12296.1 ENSP00000465776 P13994 UPI0000071AFB NM_001320565.1,NM_001320564.1,NM_001320561.1 tolerated(1) benign(0.001) 11/11 hmmpanther:PTHR12111:SF2,hmmpanther:PTHR12111,Pfam_domain:PF04502 MODERATE SNV 5 PASS CAT . . 13762739 SAMD1 . GRCh38 chr19 14090369 14090369 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.52A>C p.Thr18Pro p.T18P ENST00000533683 1/5 49 31 12 33 33 0 SAMD1,missense_variant,p.Thr18Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 340/2164 52/1299 18/432 T/P Acg/Ccg 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.063) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090369 ARHGAP33 . GRCh38 chr19 35784215 35784215 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.1465T>G p.Phe489Val p.F489V ENST00000314737 16/21 78 62 14 50 48 0 ARHGAP33,missense_variant,p.Phe353Val,ENST00000378944,NM_001172630.1;ARHGAP33,missense_variant,p.Phe489Val,ENST00000314737,NM_052948.3;ARHGAP33,missense_variant,p.Phe65Val,ENST00000587447,;ARHGAP33,missense_variant,p.Phe489Val,ENST00000007510,;ARHGAP33,missense_variant,p.Phe128Val,ENST00000588248,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000591438,;ARHGAP33,downstream_gene_variant,,ENST00000221905,;LINC01529,downstream_gene_variant,,ENST00000433059,;LINC01529,downstream_gene_variant,,ENST00000637365,;LINC01529,downstream_gene_variant,,ENST00000637421,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000601474,;ARHGAP33,downstream_gene_variant,,ENST00000586918,;ARHGAP33,upstream_gene_variant,,ENST00000587984,;ARHGAP33,downstream_gene_variant,,ENST00000590893,;ARHGAP33,upstream_gene_variant,,ENST00000593034,;,regulatory_region_variant,,ENSR00000109068,;LINC01529,downstream_gene_variant,,ENST00000636474,; G ENSG00000004777 ENST00000314737 Transcript missense_variant 1549/3858 1465/3381 489/1126 F/V Ttc/Gtc 1 1 ARHGAP33 HGNC HGNC:23085 protein_coding YES CCDS12477.1 ENSP00000320038 O14559 UPI000013F8F9 NM_052948.3 deleterious_low_confidence(0) possibly_damaging(0.659) 16/21 PROSITE_profiles:PS50238,cd04384,hmmpanther:PTHR15729:SF11,hmmpanther:PTHR15729,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350 MODERATE 1 SNV 2 PASS GTT . . 35784215 DYRK1B . GRCh38 chr19 39833265 39833265 + Splice_Site SNP A A C novel 7316-884 BS_VN983YRH A A c.-102+2T>G ENST00000593685 92 68 21 50 47 0 DYRK1B,splice_donor_variant,,ENST00000593685,;DYRK1B,intron_variant,,ENST00000323039,NM_004714.2;DYRK1B,intron_variant,,ENST00000348817,NM_006484.2;DYRK1B,intron_variant,,ENST00000430012,NM_006483.2;DYRK1B,intron_variant,,ENST00000600611,;DYRK1B,intron_variant,,ENST00000601972,;FBL,downstream_gene_variant,,ENST00000221801,NM_001436.3;FBL,downstream_gene_variant,,ENST00000595545,;FBL,downstream_gene_variant,,ENST00000597224,;FBL,downstream_gene_variant,,ENST00000597634,;DYRK1B,upstream_gene_variant,,ENST00000597639,;FBL,downstream_gene_variant,,ENST00000598417,;FBL,downstream_gene_variant,,ENST00000601274,;MIR6719,upstream_gene_variant,,ENST00000622428,;FBL,downstream_gene_variant,,ENST00000593503,;FBL,downstream_gene_variant,,ENST00000594443,;FBL,downstream_gene_variant,,ENST00000599159,;DYRK1B,upstream_gene_variant,,ENST00000601696,;,regulatory_region_variant,,ENSR00000109449,; C ENSG00000105204 ENST00000593685 Transcript splice_donor_variant 1 -1 DYRK1B HGNC HGNC:3092 protein_coding YES CCDS12543.1 ENSP00000469863 Q9Y463 A0A024R0I0 UPI0000001059 1/10 HIGH SNV 5 1 PASS TAC . . 39833265 MAP3K10 . GRCh38 chr19 40192032 40192032 + Translation_Start_Site SNP A A C novel 7316-884 BS_VN983YRH A A c.1A>C p.Met1? p.M1? ENST00000253055 1/10 87 67 16 28 28 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; C ENSG00000130758 ENST00000253055 Transcript start_lost 289/3436 1/2865 1/954 M/L Atg/Ctg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.456) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS CAT . . 40192032 MAP3K10 . GRCh38 chr19 40192033 40192033 + Translation_Start_Site SNP T T G novel 7316-884 BS_VN983YRH T T c.2T>G p.Met1? p.M1? ENST00000253055 1/10 88 66 18 28 27 1 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; G ENSG00000130758 ENST00000253055 Transcript start_lost 290/3436 2/2865 1/954 M/R aTg/aGg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS ATG . . 40192033 FAM83E . GRCh38 chr19 48603549 48603549 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.1121T>G p.Met374Arg p.M374R ENST00000263266 4/5 46 37 9 54 53 0 FAM83E,missense_variant,p.Met374Arg,ENST00000263266,NM_017708.3;SULT2B1,downstream_gene_variant,,ENST00000201586,NM_177973.1;SPACA4,upstream_gene_variant,,ENST00000321762,NM_133498.2;SULT2B1,downstream_gene_variant,,ENST00000323090,NM_004605.2;SULT2B1,downstream_gene_variant,,ENST00000594274,;SULT2B1,downstream_gene_variant,,ENST00000597923,; C ENSG00000105523 ENST00000263266 Transcript missense_variant 1311/1926 1121/1437 374/478 M/R aTg/aGg 1 -1 FAM83E HGNC HGNC:25972 protein_coding YES CCDS42587.1 ENSP00000263266 Q2M2I3 UPI000013D3D9 NM_017708.3 deleterious(0) benign(0.02) 4/5 mobidb-lite,hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF12 MODERATE 1 SNV 1 PASS CAT . . 48603549 RASIP1 . GRCh38 chr19 48739173 48739173 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.610T>G p.Leu204Val p.L204V ENST00000222145 3/12 112 89 14 25 23 0 RASIP1,missense_variant,p.Leu204Val,ENST00000222145,NM_017805.2;IZUMO1,downstream_gene_variant,,ENST00000332955,NM_182575.2,NM_001321864.1,NM_001321865.1;RASIP1,upstream_gene_variant,,ENST00000599291,;RASIP1,upstream_gene_variant,,ENST00000594232,;IZUMO1,downstream_gene_variant,,ENST00000595517,;IZUMO1,downstream_gene_variant,,ENST00000595937,;IZUMO1,downstream_gene_variant,,ENST00000597553,;IZUMO1,downstream_gene_variant,,ENST00000599871,;,regulatory_region_variant,,ENSR00000110765,; C ENSG00000105538 ENST00000222145 Transcript missense_variant 815/3308 610/2892 204/963 L/V Ttg/Gtg 1 -1 RASIP1 HGNC HGNC:24716 protein_coding YES CCDS12731.1 ENSP00000222145 Q5U651 UPI000020283D NM_017805.2 deleterious(0.03) probably_damaging(0.995) 3/12 Gene3D:3.10.20.90,PDB-ENSP_mappings:5kho.A,PDB-ENSP_mappings:5kho.B,PDB-ENSP_mappings:5khq.A,PDB-ENSP_mappings:5khq.B,Pfam_domain:PF00788,PROSITE_profiles:PS50200,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF4,SMART_domains:SM00314,Superfamily_domains:SSF54236 MODERATE 1 SNV 1 PASS AAA . . 48739173 KCNC3 . GRCh38 chr19 50323140 50323140 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.1813A>C p.Met605Leu p.M605L ENST00000477616 2/5 62 43 9 37 35 0 KCNC3,missense_variant,p.Met605Leu,ENST00000376959,;KCNC3,missense_variant,p.Met605Leu,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000474951,; G ENSG00000131398 ENST00000477616 Transcript missense_variant 2108/3176 1813/2274 605/757 M/L Atg/Ctg 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 tolerated_low_confidence(0.59) benign(0) 2/5 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF184,mobidb-lite MODERATE 1 SNV 1 1 PASS ATG . . 50323140 SHANK1 . GRCh38 chr19 50668365 50668365 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.3595A>C p.Ser1199Arg p.S1199R ENST00000293441 22/23 87 70 14 38 31 5 SHANK1,missense_variant,p.Ser1199Arg,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Ser1207Arg,ENST00000391814,;SHANK1,missense_variant,p.Ser1190Arg,ENST00000359082,;SHANK1,missense_variant,p.Ser586Arg,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,; G ENSG00000161681 ENST00000293441 Transcript missense_variant 3614/6643 3595/6486 1199/2161 S/R Agc/Cgc 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 tolerated(0.5) benign(0.044) 22/23 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3 MODERATE 1 SNV 1 1 PASS CTG . . 50668365 SHISA7 . GRCh38 chr19 55442436 55442436 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.428T>G p.Leu143Arg p.L143R ENST00000376325 1/4 84 68 11 27 27 0 SHISA7,missense_variant,p.Leu143Arg,ENST00000376325,NM_001145176.1;SHISA7,upstream_gene_variant,,ENST00000416792,; C ENSG00000187902 ENST00000376325 Transcript missense_variant 428/6033 428/1617 143/538 L/R cTa/cGa 1 -1 SHISA7 HGNC HGNC:35409 protein_coding YES CCDS46193.1 ENSP00000365503 A6NL88 UPI000193055E NM_001145176.1 tolerated(0.07) benign(0.026) 1/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF2 MODERATE 1 SNV 2 PASS TAG . . 55442436 MAP1LC3A . GRCh38 chr20 34559398 34559398 + Missense_Mutation SNP A A T novel 7316-884 BS_VN983YRH A A c.160A>T p.Thr54Ser p.T54S ENST00000374837 4/5 55 29 21 41 40 0 MAP1LC3A,missense_variant,p.Thr50Ser,ENST00000360668,;MAP1LC3A,missense_variant,p.Thr54Ser,ENST00000374837,NM_181509.2;MAP1LC3A,missense_variant,p.Thr50Ser,ENST00000397709,NM_032514.3;PIGU,downstream_gene_variant,,ENST00000217446,NM_080476.4;PIGU,downstream_gene_variant,,ENST00000374820,;PIGU,downstream_gene_variant,,ENST00000438215,;MAP1LC3A,non_coding_transcript_exon_variant,,ENST00000476428,;,regulatory_region_variant,,ENSR00000136427,; T ENSG00000101460 ENST00000374837 Transcript missense_variant 296/961 160/378 54/125 T/S Acc/Tcc 1 1 MAP1LC3A HGNC HGNC:6838 protein_coding YES CCDS13237.1 ENSP00000363970 Q9H492 UPI000012F42A NM_181509.2 tolerated(0.11) benign(0.042) 4/5 Gene3D:3.10.20.90,Pfam_domain:PF02991,hmmpanther:PTHR10969,hmmpanther:PTHR10969:SF14,Superfamily_domains:SSF54236,cd01611 MODERATE SNV 3 PASS GAC . . 34559398 SPAG4 . GRCh38 chr20 35616286 35616286 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.283A>C p.Thr95Pro p.T95P ENST00000374273 1/12 70 55 11 40 38 0 SPAG4,missense_variant,p.Thr95Pro,ENST00000374273,NM_003116.2,NM_001317931.1;SPAG4,upstream_gene_variant,,ENST00000430878,;SPAG4,upstream_gene_variant,,ENST00000454819,;SPAG4,upstream_gene_variant,,ENST00000462896,;SPAG4,upstream_gene_variant,,ENST00000463973,;SPAG4,upstream_gene_variant,,ENST00000468248,;SPAG4,upstream_gene_variant,,ENST00000498203,;,regulatory_region_variant,,ENSR00000136586,; C ENSG00000061656 ENST00000374273 Transcript missense_variant 395/1453 283/1314 95/437 T/P Acc/Ccc 1 1 SPAG4 HGNC HGNC:11214 protein_coding YES CCDS13259.1 ENSP00000363391 Q9NPE6 UPI0000135D8F NM_003116.2,NM_001317931.1 tolerated(0.09) benign(0.188) 1/12 hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF16,Gene3D:2.60.120.260 MODERATE 1 SNV 1 PASS AAC . . 35616286 PAXBP1 . GRCh38 chr21 32771603 32771603 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.66A>C p.Glu22Asp p.E22D ENST00000331923 1/18 100 84 11 38 36 0 PAXBP1,missense_variant,p.Glu22Asp,ENST00000331923,NM_016631.3;PAXBP1,missense_variant,p.Glu22Asp,ENST00000290178,NM_013329.3;C21orf62-AS1,upstream_gene_variant,,ENST00000382375,;C21orf62-AS1,upstream_gene_variant,,ENST00000382377,;C21orf62-AS1,upstream_gene_variant,,ENST00000382378,;C21orf62-AS1,upstream_gene_variant,,ENST00000454365,;C21orf62-AS1,upstream_gene_variant,,ENST00000477513,;C21orf62-AS1,upstream_gene_variant,,ENST00000491756,;C21orf62-AS1,upstream_gene_variant,,ENST00000612326,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000472588,;PAXBP1,missense_variant,p.Glu22Asp,ENST00000443785,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000464256,;,regulatory_region_variant,,ENSR00000141464,; G ENSG00000159086 ENST00000331923 Transcript missense_variant 256/3995 66/2754 22/917 E/D gaA/gaC 1 -1 PAXBP1 HGNC HGNC:13579 protein_coding YES CCDS13619.1 ENSP00000328992 Q9Y5B6 UPI000012B294 NM_016631.3 tolerated_low_confidence(0.31) benign(0.123) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12214,hmmpanther:PTHR12214:SF2 MODERATE 1 SNV 1 PASS GTT . . 32771603 OLIG1 . GRCh38 chr21 33070445 33070445 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.199A>C p.Lys67Gln p.K67Q ENST00000382348 1/1 59 39 13 26 26 0 OLIG1,missense_variant,p.Lys67Gln,ENST00000382348,NM_138983.2;OLIG1,upstream_gene_variant,,ENST00000426947,;AP000282.1,intron_variant,,ENST00000454622,;OLIG1,upstream_gene_variant,,ENST00000498799,;,regulatory_region_variant,,ENSR00000141504,; C ENSG00000184221 ENST00000382348 Transcript missense_variant 302/2277 199/816 67/271 K/Q Aag/Cag 1 1 OLIG1 HGNC HGNC:16983 protein_coding YES CCDS42920.2 ENSP00000371785 Q8TAK6 UPI0000130C80 NM_138983.2 deleterious_low_confidence(0) benign(0.067) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR19290:SF7,hmmpanther:PTHR19290 MODERATE SNV PASS CAA . . 33070445 RUNX1 . GRCh38 chr21 34792308 34792308 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.1270T>G p.Ser424Ala p.S424A ENST00000300305 8/8 48 27 15 39 37 0 RUNX1,missense_variant,p.Ser397Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Ser424Ala,ENST00000300305,;RUNX1,missense_variant,p.Ser424Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser333Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1715/6222 1270/1443 424/480 S/A Tcg/Gcg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) possibly_damaging(0.453) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS GAG . . 34792308 UMODL1 . GRCh38 chr21 42111214 42111214 + Missense_Mutation SNP A A C rs971956353 7316-884 BS_VN983YRH A A c.1992A>C p.Arg664Ser p.R664S ENST00000408989 11/22 72 57 10 38 34 0 UMODL1,missense_variant,p.Arg592Ser,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Arg664Ser,ENST00000408989,NM_173568.3;UMODL1,intron_variant,,ENST00000400424,NM_001199528.2;UMODL1,intron_variant,,ENST00000408910,NM_001004416.2;UMODL1-AS1,upstream_gene_variant,,ENST00000329015,;UMODL1,upstream_gene_variant,,ENST00000475047,; C ENSG00000177398 ENST00000408989 Transcript missense_variant 1992/5262 1992/4341 664/1446 R/S agA/agC rs971956353,COSM5950829 1 1 UMODL1 HGNC HGNC:12560 protein_coding YES CCDS42935.1 ENSP00000386126 Q5DID0 UPI0000D6254B NM_173568.3 tolerated(0.77) benign(0) 11/22 mobidb-lite,Gene3D:2.40.155.10,hmmpanther:PTHR45146 0,1 MODERATE 1 SNV 1 0,1 PASS GAC . . 4.07e-05 0.0001018 6.559e-05 42111214 UBE2G2 . GRCh38 chr21 44801708 44801708 + Missense_Mutation SNP T T G novel 7316-884 BS_VN983YRH T T c.41A>C p.Lys14Thr p.K14T ENST00000345496 1/6 81 70 7 32 31 0 UBE2G2,missense_variant,p.Lys14Thr,ENST00000345496,NM_003343.5;UBE2G2,splice_region_variant,,ENST00000330942,NM_001202489.1,NM_182688.2;SUMO3,downstream_gene_variant,,ENST00000332859,NM_006936.2;SUMO3,downstream_gene_variant,,ENST00000397898,;SUMO3,downstream_gene_variant,,ENST00000411651,NM_001286416.1;LINC01424,upstream_gene_variant,,ENST00000417820,;UBE2G2,splice_region_variant,,ENST00000477954,;UBE2G2,splice_region_variant,,ENST00000497630,;UBE2G2,splice_region_variant,,ENST00000497664,;UBE2G2,splice_region_variant,,ENST00000490450,;UBE2G2,splice_region_variant,,ENST00000496395,;SUMO3,downstream_gene_variant,,ENST00000479153,;UBE2G2,missense_variant,p.Lys14Thr,ENST00000491513,;UBE2G2,missense_variant,p.Lys14Thr,ENST00000478200,;UBE2G2,splice_region_variant,,ENST00000490091,;UBE2G2,splice_region_variant,,ENST00000462569,;,regulatory_region_variant,,ENSR00000143100,; G ENSG00000184787 ENST00000345496 Transcript missense_variant,splice_region_variant 312/3566 41/498 14/165 K/T aAa/aCa 1 -1 UBE2G2 HGNC HGNC:12483 protein_coding YES CCDS13714.1 ENSP00000338348 P60604 UPI0000027925 NM_003343.5 tolerated(0.06) possibly_damaging(0.525) 1/6 Gene3D:3.10.110.10,Pfam_domain:PF00179,PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF154,SMART_domains:SM00212,Superfamily_domains:SSF54495,cd00195 MODERATE 1 SNV 1 PASS TTT . . 44801708 CERK . GRCh38 chr22 46738005 46738005 + Splice_Site SNP A A C novel 7316-884 BS_VN983YRH A A c.142+2T>G p.X48_splice ENST00000216264 77 64 8 50 45 1 CERK,splice_donor_variant,,ENST00000216264,NM_022766.5;CERK,splice_donor_variant,,ENST00000460254,;CERK,splice_donor_variant,,ENST00000443629,;,regulatory_region_variant,,ENSR00000147452,; C ENSG00000100422 ENST00000216264 Transcript splice_donor_variant 1 -1 CERK HGNC HGNC:19256 protein_coding YES CCDS14077.1 ENSP00000216264 Q8TCT0 A0A024R4U8 UPI000004BBBD NM_022766.5 1/12 HIGH 1 SNV 1 PASS CAC . . 46738005 CHST7 . GRCh38 chrX 46574123 46574123 + Missense_Mutation SNP A A C novel 7316-884 BS_VN983YRH A A c.192A>C p.Glu64Asp p.E64D ENST00000276055 1/2 74 65 7 48 47 0 CHST7,missense_variant,p.Glu64Asp,ENST00000276055,NM_019886.3;,regulatory_region_variant,,ENSR00000246338,;,TF_binding_site_variant,,MA0527.1,; C ENSG00000147119 ENST00000276055 Transcript missense_variant 340/2289 192/1461 64/486 E/D gaA/gaC 1 1 CHST7 HGNC HGNC:13817 protein_coding YES CCDS14268.1 ENSP00000276055 Q9NS84 UPI000000DADD NM_019886.3 tolerated(0.31) benign(0.428) 1/2 PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF5,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 46574123 FTSJ1 . GRCh38 chrX 48476395 48476395 + Splice_Region SNP A A C novel 7316-884 BS_VN983YRH A A c.-89A>C ENST00000348411 1/13 86 54 29 41 41 0 FTSJ1,splice_region_variant,,ENST00000019019,NM_177439.2;FTSJ1,splice_region_variant,,ENST00000348411,NM_012280.3;FTSJ1,splice_region_variant,,ENST00000396894,NM_001282157.1;FTSJ1,splice_region_variant,,ENST00000487353,;FTSJ1,splice_region_variant,,ENST00000473235,;FTSJ1,splice_region_variant,,ENST00000492562,;FTSJ1,splice_region_variant,,ENST00000485486,;FTSJ1,upstream_gene_variant,,ENST00000466371,;FTSJ1,upstream_gene_variant,,ENST00000490202,;FTSJ1,upstream_gene_variant,,ENST00000496365,;,regulatory_region_variant,,ENSR00000246474,; C ENSG00000068438 ENST00000348411 Transcript splice_region_variant,5_prime_UTR_variant 235/1892 1 1 FTSJ1 HGNC HGNC:13254 protein_coding YES CCDS14294.1 ENSP00000326948 Q9UET6 A0A024QYX5 UPI0000001C19 NM_012280.3 1/13 LOW 1 SNV 1 1 PASS AAG . . 48476395 MT-CO1 . GRCh38 chrM 5982 5982 + Frame_Shift_Del DEL G G - novel 7316-884 BS_VN983YRH G G c.80del p.Gly27GlufsTer? p.G27Efs*? ENST00000361624 1/1 16619 14798 868 4762 4714 1 MT-CO1,frameshift_variant,p.Gly27GlufsTer?,ENST00000361624,;MT-ND3,upstream_gene_variant,,ENST00000361227,;MT-ND4L,upstream_gene_variant,,ENST00000361335,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND1,downstream_gene_variant,,ENST00000361390,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-CO2,upstream_gene_variant,,ENST00000361739,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-CO3,upstream_gene_variant,,ENST00000362079,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-TV,downstream_gene_variant,,ENST00000387342,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,downstream_gene_variant,,ENST00000387365,;MT-TQ,upstream_gene_variant,,ENST00000387372,;MT-TM,downstream_gene_variant,,ENST00000387377,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,downstream_gene_variant,,ENST00000387416,;MT-TD,upstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-TG,upstream_gene_variant,,ENST00000387429,;MT-TR,upstream_gene_variant,,ENST00000387439,;MT-RNR1,downstream_gene_variant,,ENST00000389680,; - ENSG00000198804 ENST00000361624 Transcript frameshift_variant 79/1542 79/1542 27/513 G/X Gga/ga 1 1 MT-CO1 HGNC HGNC:7419 protein_coding YES ENSP00000354499 P00395 U5YWV7 UPI0000000AA3 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50855,cd01663,hmmpanther:PTHR10422,hmmpanther:PTHR10422:SF18,Pfam_domain:PF00115,Gene3D:1.20.210.10,Superfamily_domains:SSF81442,Prints_domain:PR01165 HIGH 1 deletion 1 1 PASS CTGG . . 5981 PCDHA8 . GRCh38 chr5 140841610 140841610 + Missense_Mutation SNP G G C rs199713478 7316-499 BS_2E1MBQ4Y G G c.289G>C p.Gly97Arg p.G97R ENST00000531613 1/4 79 68 11 51 51 0 PCDHA8,missense_variant,p.Gly97Arg,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Gly97Arg,ENST00000378123,NM_031856.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA4,intron_variant,,ENST00000512229,;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA5,intron_variant,,ENST00000529619,;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,downstream_gene_variant,,ENST00000356878,NM_031852.1;,regulatory_region_variant,,ENSR00000317555,; C ENSG00000204962 ENST00000531613 Transcript missense_variant 289/5260 289/2853 97/950 G/R Ggg/Cgg rs199713478,COSM225565,COSM225564 1 1 PCDHA8 HGNC HGNC:8674 protein_coding YES CCDS54919.1 ENSP00000434655 Q9Y5H6 UPI00001273D0 NM_018911.2 deleterious_low_confidence(0.02) benign(0.298) 1/4 cd11304,Pfam_domain:PF08266,Gene3D:2.60.350.10,SMART_domains:SM00112,Superfamily_domains:SSF49313,PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF147,hmmpanther:PTHR24028 0.1142 0.1036 0.1499 0.0933 0.1103 0.1288 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGG . . 0.04531 0.05956 0.08021 0.02435 0.1031 0.01607 0.0328 0.06255 0.0443 140841610 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-499 BS_2E1MBQ4Y A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 102 71 29 37 37 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 PPP1R12A . GRCh38 chr12 79797315 79797315 + Missense_Mutation SNP A A T rs1469343719 7316-499 BS_2E1MBQ4Y A A c.2172T>A p.Asn724Lys p.N724K ENST00000450142 16/25 81 71 6 39 37 0 PPP1R12A,missense_variant,p.Asn724Lys,ENST00000450142,NM_002480.2;PPP1R12A,missense_variant,p.Asn724Lys,ENST00000261207,NM_001143885.1;PPP1R12A,missense_variant,p.Asn724Lys,ENST00000437004,NM_001244990.1;PPP1R12A,missense_variant,p.Asn637Lys,ENST00000546369,NM_001143886.1;PPP1R12A,missense_variant,p.Asn668Lys,ENST00000550107,NM_001244992.1;PPP1R12A,missense_variant,p.Asn665Lys,ENST00000547330,;PPP1R12A,missense_variant,p.Asn316Lys,ENST00000553081,;PPP1R12A,downstream_gene_variant,,ENST00000547131,;PPP1R12A,upstream_gene_variant,,ENST00000550299,;PPP1R12A,non_coding_transcript_exon_variant,,ENST00000551781,;PPP1R12A,non_coding_transcript_exon_variant,,ENST00000550007,;PPP1R12A,upstream_gene_variant,,ENST00000546762,;PPP1R12A,upstream_gene_variant,,ENST00000550903,; T ENSG00000058272 ENST00000450142 Transcript missense_variant 2439/5721 2172/3093 724/1030 N/K aaT/aaA rs1469343719 1 -1 PPP1R12A HGNC HGNC:7618 protein_coding YES CCDS44947.1 ENSP00000389168 O14974 UPI0000073E69 NM_002480.2 tolerated(1) benign(0.023) 16/25 Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF038141,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF20,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAT . . 79797315 PTPRQ . GRCh38 chr12 80588354 80588354 + Missense_Mutation SNP T T C novel 7316-499 BS_2E1MBQ4Y T T c.4511T>C p.Leu1504Ser p.L1504S ENST00000614701 26/45 116 86 28 35 35 0 PTPRQ,missense_variant,p.Leu1504Ser,ENST00000614701,;PTPRQ,missense_variant,p.Leu1504Ser,ENST00000644991,NM_001145026.1;PTPRQ,missense_variant,p.Leu1546Ser,ENST00000616559,;AC074031.1,intron_variant,,ENST00000550634,; C ENSG00000139304 ENST00000614701 Transcript missense_variant 4689/8326 4511/6900 1504/2299 L/S tTa/tCa 1 1 PTPRQ HGNC HGNC:9679 protein_coding YES CCDS73501.1 ENSP00000482885 A0A087WZU1 UPI000192953C deleterious(0) probably_damaging(1) 26/45 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR44727,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 MODERATE SNV 5 1 PASS TTA . . 80588354 HNRNPA1P30 . GRCh38 chr13 20948971 20948972 + Splice_Region INS - - TTC rs201460408 7316-499 BS_2E1MBQ4Y - - n.326-7_326-6insGAA ENST00000440699 66 56 8 21 18 0 HNRNPA1P30,intron_variant,,ENST00000424329,;HNRNPA1P30,splice_region_variant,,ENST00000440699,; TTC ENSG00000233780 ENST00000440699 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs201460408 1 -1 HNRNPA1P30 HGNC HGNC:39548 transcribed_processed_pseudogene YES 1/1 LOW 1 insertion PASS CTT . . 20948971 MIS18BP1 . GRCh38 chr14 45246815 45246816 + Frame_Shift_Ins INS - - T rs546807245 7316-499 BS_2E1MBQ4Y - - c.471dup p.Leu158IlefsTer8 p.L158Ifs*8 ENST00000310806 2/17 93 74 12 52 51 0 MIS18BP1,frameshift_variant,p.Leu158IlefsTer8,ENST00000310806,NM_018353.4;MIS18BP1,frameshift_variant,p.Leu158IlefsTer8,ENST00000627697,;MIS18BP1,downstream_gene_variant,,ENST00000451174,;MIS18BP1,intron_variant,,ENST00000494512,;MIS18BP1,upstream_gene_variant,,ENST00000492652,;MIS18BP1,frameshift_variant,p.Leu158IlefsTer8,ENST00000454990,;MIS18BP1,upstream_gene_variant,,ENST00000453142,; T ENSG00000129534 ENST00000310806 Transcript frameshift_variant 930-931/4777 471-472/3399 157-158/1132 -/X -/A rs546807245 1 -1 MIS18BP1 HGNC HGNC:20190 protein_coding YES CCDS9684.1 ENSP00000309790 Q6P0N0 UPI00001FD488 NM_018353.4 2/17 hmmpanther:PTHR16124,hmmpanther:PTHR16124:SF3 0.0355 0.0628 0.0101 0.0169 0.0139 0.0583 HIGH 1 insertion 1 PASS AAT . . 0.03741 0.02831 0.06621 0.07022 0.0456 0.02536 0.02838 0.04756 0.05754 45246815 PDK2 . GRCh38 chr17 50106049 50106049 + Missense_Mutation SNP G G A rs776820518 7316-499 BS_2E1MBQ4Y G G c.497G>A p.Arg166His p.R166H ENST00000503176 4/11 65 60 5 36 35 0 PDK2,missense_variant,p.Arg166His,ENST00000503176,NM_002611.4;PDK2,missense_variant,p.Arg102His,ENST00000614357,NM_001199899.1;PDK2,missense_variant,p.Arg102His,ENST00000007708,NM_001199898.1;PDK2,missense_variant,p.Arg102His,ENST00000503614,;PDK2,missense_variant,p.Arg102His,ENST00000505440,;PDK2,missense_variant,p.Arg102His,ENST00000508030,;PDK2,missense_variant,p.Arg71His,ENST00000510219,;SAMD14,downstream_gene_variant,,ENST00000330175,NM_001257359.1;PDK2,downstream_gene_variant,,ENST00000512238,;AC002401.2,upstream_gene_variant,,ENST00000511361,;PDK2,non_coding_transcript_exon_variant,,ENST00000505897,NM_001199900.1;PDK2,non_coding_transcript_exon_variant,,ENST00000515040,;PDK2,non_coding_transcript_exon_variant,,ENST00000506242,;PDK2,upstream_gene_variant,,ENST00000503076,;PDK2,upstream_gene_variant,,ENST00000506647,;PDK2,upstream_gene_variant,,ENST00000512204,; A ENSG00000005882 ENST00000503176 Transcript missense_variant 658/3440 497/1224 166/407 R/H cGc/cAc rs776820518,COSM4432609 1 1 PDK2 HGNC HGNC:8810 protein_coding YES CCDS11559.1 ENSP00000420927 Q15119 UPI000000D98D NM_002611.4 deleterious(0.03) possibly_damaging(0.807) 4/11 hmmpanther:PTHR11947:SF15,hmmpanther:PTHR11947,Gene3D:1.20.140.20,Pfam_domain:PF10436,Superfamily_domains:SSF69012 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 50106049 AL450023.2 . GRCh38 chrX 52613015 52613015 + Splice_Region SNP G G A novel 7316-499 BS_2E1MBQ4Y G G n.355+5G>A ENST00000453276 37 30 7 31 31 0 AL450023.2,splice_region_variant,,ENST00000453276,;SSXP1,upstream_gene_variant,,ENST00000453640,; A ENSG00000234792 ENST00000453276 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 AL450023.2 Clone_based_ensembl_gene processed_pseudogene YES 1/1 LOW 1 SNV PASS TGT . . 52613015 ALG13 . GRCh38 chrX 111744726 111744728 + In_Frame_Del DEL ACC ACC - rs759349340 7316-499 BS_2E1MBQ4Y ACC ACC c.2796_2798del p.Pro945del p.P945del ENST00000394780 24/27 31 9 6 26 15 0 ALG13,inframe_deletion,p.Pro867del,ENST00000610588,NM_001257231.1;ALG13,inframe_deletion,p.Pro945del,ENST00000394780,NM_001324292.1,NM_001099922.2;ALG13,intron_variant,,ENST00000251943,NM_001257237.1,NM_001324293.1;ALG13,intron_variant,,ENST00000436609,;ALG13,intron_variant,,ENST00000621367,NM_001257234.1,NM_001257230.1;ALG13,upstream_gene_variant,,ENST00000474121,;ALG13,intron_variant,,ENST00000461669,;ALG13,downstream_gene_variant,,ENST00000635931,;ALG13,3_prime_UTR_variant,,ENST00000623148,;ALG13,3_prime_UTR_variant,,ENST00000470971,;ALG13,intron_variant,,ENST00000495283,;ALG13,intron_variant,,ENST00000623144,;ALG13,intron_variant,,ENST00000624161,;ALG13,intron_variant,,ENST00000636363,; - ENSG00000101901 ENST00000394780 Transcript inframe_deletion 2823-2825/4133 2754-2756/3414 918-919/1137 LP/L ctACCa/cta rs759349340 1 1 ALG13 HGNC HGNC:30881 protein_coding YES CCDS55477.1 ENSP00000378260 Q9NP73 UPI0000E5AFF9 NM_001324292.1,NM_001099922.2 24/27 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 deletion 2 42 1 PASS CTACCA . . 0.0004985 0.0007057 0.0004773 0.0005999 0.0003639 0.0004431 0.0003698 0.001029 111744725 SPEN . GRCh38 chr1 15928190 15928190 + Nonsense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1950T>G p.Tyr650Ter p.Y650* ENST00000375759 11/15 46 39 7 39 38 0 SPEN,stop_gained,p.Tyr650Ter,ENST00000375759,NM_015001.2; G ENSG00000065526 ENST00000375759 Transcript stop_gained 2154/12232 1950/10995 650/3664 Y/* taT/taG 1 1 SPEN HGNC HGNC:17575 protein_coding YES CCDS164.1 ENSP00000364912 Q96T58 UPI000006FF0C NM_015001.2 11/15 Gene3D:3.30.70.330,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF48 HIGH 1 SNV 1 1 PASS ATC . . 15928190 CRYBG2 . GRCh38 chr1 26344848 26344848 + Missense_Mutation SNP A A C rs1408165281 7316-1760 BS_GVA39GGG A A c.2782T>G p.Cys928Gly p.C928G ENST00000475866 4/22 52 37 12 26 25 0 CRYBG2,missense_variant,p.Cys928Gly,ENST00000475866,;CRYBG2,missense_variant,p.Cys604Gly,ENST00000308182,NM_001039775.3;CRYBG2,missense_variant,p.Cys604Gly,ENST00000527815,;CRYBG2,downstream_gene_variant,,ENST00000640960,;CRYBG2,intron_variant,,ENST00000374207,; C ENSG00000176092 ENST00000475866 Transcript missense_variant 2813/6259 2782/5958 928/1985 C/G Tgt/Ggt rs1408165281 1 -1 CRYBG2 HGNC HGNC:17295 protein_coding YES ENSP00000428746 E7ET48 UPI000D18D1C8 tolerated_low_confidence(1) benign(0) 4/22 hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF50,mobidb-lite MODERATE 1 SNV 4 PASS CAG . . 0.0004524 0.001485 0.0008656 0.0001448 0.001667 0.0002204 0.001283 0.0004124 26344848 RPS6KA1 . GRCh38 chr1 26558848 26558848 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1153T>G p.Phe385Val p.F385V ENST00000531382 13/21 48 34 14 34 34 0 RPS6KA1,missense_variant,p.Phe376Val,ENST00000374168,NM_002953.3;RPS6KA1,missense_variant,p.Phe365Val,ENST00000374166,;RPS6KA1,missense_variant,p.Phe360Val,ENST00000530003,NM_001330441.1;RPS6KA1,missense_variant,p.Phe284Val,ENST00000526792,;RPS6KA1,missense_variant,p.Phe385Val,ENST00000531382,NM_001006665.1;RPS6KA1,missense_variant,p.Phe34Val,ENST00000403732,;RPS6KA1,downstream_gene_variant,,ENST00000529454,;MIR1976,downstream_gene_variant,,ENST00000459548,;RPS6KA1,downstream_gene_variant,,ENST00000488985,;RPS6KA1,3_prime_UTR_variant,,ENST00000374163,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000531113,;RPS6KA1,downstream_gene_variant,,ENST00000474934,;RPS6KA1,downstream_gene_variant,,ENST00000527264,; G ENSG00000117676 ENST00000531382 Transcript missense_variant 1202/2359 1153/2235 385/744 F/V Ttc/Gtc 1 1 RPS6KA1 HGNC HGNC:10430 protein_coding YES CCDS30649.1 ENSP00000435412 Q15418 UPI000046D37A NM_001006665.1 deleterious(0) probably_damaging(0.969) 13/21 Pfam_domain:PF00433,PIRSF_domain:PIRSF000606,PROSITE_profiles:PS51285,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF43,SMART_domains:SM00133,Superfamily_domains:SSF56112,cd05582 MODERATE 1 SNV 2 PASS GTT . . 26558848 GPR3 . GRCh38 chr1 27392739 27392739 + Splice_Site SNP T T G novel 7316-1760 BS_GVA39GGG T T c.-6+2T>G ENST00000374024 62 52 7 41 39 0 GPR3,splice_donor_variant,,ENST00000374024,NM_005281.3;,regulatory_region_variant,,ENSR00000003710,;FO393419.1,downstream_gene_variant,,ENST00000443746,; G ENSG00000181773 ENST00000374024 Transcript splice_donor_variant 1 1 GPR3 HGNC HGNC:4484 protein_coding YES CCDS303.1 ENSP00000363136 P46089 F1DAM5 UPI0000001624 NM_005281.3 1/1 HIGH 1 SNV 1 PASS GTG . . 27392739 KIAA1522 . GRCh38 chr1 32770482 32770482 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1303A>C p.Lys435Gln p.K435Q ENST00000401073 6/7 62 49 10 42 41 0 KIAA1522,missense_variant,p.Lys435Gln,ENST00000401073,NM_020888.2;KIAA1522,missense_variant,p.Lys376Gln,ENST00000373480,NM_001198972.1;KIAA1522,missense_variant,p.Lys387Gln,ENST00000373481,;KIAA1522,intron_variant,,ENST00000294521,NM_001198973.1;YARS,downstream_gene_variant,,ENST00000373477,NM_003680.3;YARS,downstream_gene_variant,,ENST00000469100,;YARS,downstream_gene_variant,,ENST00000490826,;KIAA1522,downstream_gene_variant,,ENST00000468130,; C ENSG00000162522 ENST00000401073 Transcript missense_variant 1373/5438 1303/3285 435/1094 K/Q Aag/Cag 1 1 KIAA1522 HGNC HGNC:29301 protein_coding YES CCDS41298.1 ENSP00000383851 Q9P206 UPI000022ACD0 NM_020888.2 tolerated(0.43) benign(0.022) 6/7 mobidb-lite,hmmpanther:PTHR23039:SF6,hmmpanther:PTHR23039 MODERATE SNV 2 PASS TAA . . 32770482 PHC2 . GRCh38 chr1 33368547 33368547 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.652A>C p.Thr218Pro p.T218P ENST00000257118 5/14 59 46 11 36 35 0 PHC2,missense_variant,p.Thr218Pro,ENST00000257118,NM_198040.2;PHC2,intron_variant,,ENST00000431992,NM_001330488.1;PHC2,downstream_gene_variant,,ENST00000468406,;PHC2,downstream_gene_variant,,ENST00000484692,; G ENSG00000134686 ENST00000257118 Transcript missense_variant 706/3870 652/2577 218/858 T/P Acc/Ccc 1 -1 PHC2 HGNC HGNC:3183 protein_coding YES CCDS378.1 ENSP00000257118 Q8IXK0 UPI0000074391 NM_198040.2 tolerated(0.13) benign(0.42) 5/14 hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF86 MODERATE 1 SNV 1 PASS GTG . . 33368547 COL8A2 . GRCh38 chr1 36098184 36098184 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1497A>C p.Glu499Asp p.E499D ENST00000397799 4/4 39 30 7 33 33 0 COL8A2,missense_variant,p.Glu499Asp,ENST00000397799,NM_005202.3;COL8A2,missense_variant,p.Glu499Asp,ENST00000303143,;COL8A2,missense_variant,p.Glu434Asp,ENST00000481785,NM_001294347.1;ADPRHL2,downstream_gene_variant,,ENST00000373178,NM_017825.2; G ENSG00000171812 ENST00000397799 Transcript missense_variant 1722/4670 1497/2112 499/703 E/D gaA/gaC 1 -1 COL8A2 HGNC HGNC:2216 protein_coding YES CCDS403.1 ENSP00000380901 P25067 UPI00001B2F2D NM_005202.3 tolerated(0.55) benign(0.017) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44057,hmmpanther:PTHR44057:SF3,Gene3D:2.160.20.50 MODERATE SNV 5 1 PASS GTT . . 36098184 MAP7D1 . GRCh38 chr1 36178006 36178006 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1513A>C p.Lys505Gln p.K505Q ENST00000373151 9/17 62 48 7 44 43 0 MAP7D1,missense_variant,p.Lys468Gln,ENST00000316156,NM_001286365.1;MAP7D1,missense_variant,p.Lys505Gln,ENST00000373151,NM_018067.4;MAP7D1,missense_variant,p.Lys473Gln,ENST00000373150,NM_001286366.1;MAP7D1,missense_variant,p.Lys88Gln,ENST00000530975,;MAP7D1,downstream_gene_variant,,ENST00000429533,;MAP7D1,non_coding_transcript_exon_variant,,ENST00000373148,;MAP7D1,non_coding_transcript_exon_variant,,ENST00000487131,;MAP7D1,downstream_gene_variant,,ENST00000474796,;MAP7D1,downstream_gene_variant,,ENST00000462118,;MAP7D1,upstream_gene_variant,,ENST00000487114,;MAP7D1,upstream_gene_variant,,ENST00000532131,;,regulatory_region_variant,,ENSR00000004760,; C ENSG00000116871 ENST00000373151 Transcript missense_variant 1729/3324 1513/2526 505/841 K/Q Aag/Cag 1 1 MAP7D1 HGNC HGNC:25514 protein_coding YES CCDS30673.1 ENSP00000362244 Q3KQU3 UPI00005C3036 NM_018067.4 deleterious(0.02) probably_damaging(0.991) 9/17 Gene3D:3.40.50.1910,hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF2,mobidb-lite MODERATE 1 SNV 1 PASS CAA . . 36178006 PKN2 . GRCh38 chr1 88684622 88684622 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.42A>C p.Glu14Asp p.E14D ENST00000370521 1/22 72 51 14 40 38 0 PKN2,missense_variant,p.Glu14Asp,ENST00000370521,NM_006256.3,NM_001320708.1,NM_001320709.1;PKN2,missense_variant,p.Glu14Asp,ENST00000370513,NM_001320707.1;PKN2,missense_variant,p.Glu14Asp,ENST00000316005,;PKN2-AS1,intron_variant,,ENST00000458097,;PKN2-AS1,intron_variant,,ENST00000645890,;,regulatory_region_variant,,ENSR00000009490,; C ENSG00000065243 ENST00000370521 Transcript missense_variant 401/6121 42/2955 14/984 E/D gaA/gaC 1 1 PKN2 HGNC HGNC:9406 protein_coding YES CCDS714.1 ENSP00000359552 Q16513 UPI000004D291 NM_006256.3,NM_001320708.1,NM_001320709.1 tolerated_low_confidence(0.59) benign(0) 1/22 MODERATE 1 SNV 1 PASS AAC . . 88684622 RBMXL1 . GRCh38 chr1 88992587 88992587 + Splice_Region SNP A A C novel 7316-1760 BS_GVA39GGG A A c.-343T>G ENST00000399794 1/3 61 53 6 38 37 0 RBMXL1,splice_region_variant,,ENST00000399794,NM_001162536.2;RBMXL1,splice_region_variant,,ENST00000321792,NM_019610.5;KYAT3,splice_region_variant,,ENST00000260508,NM_001008661.2,NM_001349448.1;KYAT3,splice_region_variant,,ENST00000370491,NM_001008662.2,NM_001349447.1;KYAT3,splice_region_variant,,ENST00000370486,;RBMXL1,splice_region_variant,,ENST00000413769,;KYAT3,upstream_gene_variant,,ENST00000446900,;,regulatory_region_variant,,ENSR00000009513,; C ENSG00000213516 ENST00000399794 Transcript splice_region_variant,5_prime_UTR_variant 374/5084 1 -1 RBMXL1 HGNC HGNC:25073 protein_coding YES CCDS716.1 ENSP00000446099 Q96E39 UPI000006DA18 NM_001162536.2 1/3 LOW SNV 2 PASS TAT . . 88992587 RPTN . GRCh38 chr1 152155523 152155523 + Missense_Mutation SNP G G T rs1373195943 7316-1760 BS_GVA39GGG G G c.1576C>A p.Pro526Thr p.P526T ENST00000316073 3/3 44 24 12 40 36 1 RPTN,missense_variant,p.Pro526Thr,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; T ENSG00000215853 ENST00000316073 Transcript missense_variant 1641/3569 1576/2355 526/784 P/T Cca/Aca rs1373195943,COSM4722791,COSM341811 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGC . . 0.000648 0.001641 0.000782 0.0005607 0.003284 0.0003551 0.0006909 0.0005766 152155523 FLG2 . GRCh38 chr1 152351932 152351932 + Nonsense_Mutation SNP C C A rs1403594309 7316-1760 BS_GVA39GGG C C c.5854G>T p.Gly1952Ter p.G1952* ENST00000388718 3/3 53 39 10 53 51 0 FLG2,stop_gained,p.Gly1952Ter,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript stop_gained 5927/9124 5854/7176 1952/2391 G/* Gga/Tga rs1403594309,COSM6285886 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 HIGH SNV 5 0,1 1 PASS CCC . . 152351932 FLG2 . GRCh38 chr1 152352111 152352111 + Missense_Mutation SNP C C A rs1292844325 7316-1760 BS_GVA39GGG C C c.5675G>T p.Gly1892Val p.G1892V ENST00000388718 3/3 70 56 11 46 45 0 FLG2,missense_variant,p.Gly1892Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 5748/9124 5675/7176 1892/2391 G/V gGc/gTc rs1292844325,COSM6264550 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCC . . 152352111 DNM3 . GRCh38 chr1 171841664 171841664 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.8A>C p.Asn3Thr p.N3T ENST00000627582 1/21 52 42 10 36 36 0 DNM3,missense_variant,p.Asn3Thr,ENST00000627582,NM_015569.4;DNM3,missense_variant,p.Asn3Thr,ENST00000367731,NM_001136127.2;DNM3,missense_variant,p.Asn3Thr,ENST00000520906,;DNM3,missense_variant,p.Asn3Thr,ENST00000355305,;DNM3,missense_variant,p.Asn3Thr,ENST00000367733,NM_001278252.1;,regulatory_region_variant,,ENSR00000015728,; C ENSG00000197959 ENST00000627582 Transcript missense_variant 165/7625 8/2592 3/863 N/T aAc/aCc 1 1 DNM3 HGNC HGNC:29125 protein_coding YES CCDS53431.1 ENSP00000486701 Q9UQ16 UPI0000251D91 NM_015569.4 deleterious(0.01) possibly_damaging(0.652) 1/21 MODERATE 1 SNV 1 PASS AAC . . 171841664 MYCN . GRCh38 chr2 15942549 15942549 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.485A>C p.His162Pro p.H162P ENST00000281043 2/3 66 54 10 21 21 0 MYCN,missense_variant,p.His162Pro,ENST00000281043,NM_001293233.1,NM_001293228.1,NM_005378.5;MYCN,intron_variant,,ENST00000638417,NM_001293231.1;MYCNOS,upstream_gene_variant,,ENST00000419083,;MYCNOS,upstream_gene_variant,,ENST00000641263,;MYCNOS,upstream_gene_variant,,ENST00000641387,;MYCNOS,upstream_gene_variant,,ENST00000641534,;MYCNOS,upstream_gene_variant,,ENST00000641950,;,regulatory_region_variant,,ENSR00000289888,; C ENSG00000134323 ENST00000281043 Transcript missense_variant 782/2602 485/1395 162/464 H/P cAc/cCc 1 1 MYCN HGNC HGNC:7559 protein_coding YES CCDS1687.1 ENSP00000281043 P04198 UPI000012FAF8 NM_001293233.1,NM_001293228.1,NM_005378.5 tolerated(0.28) benign(0.073) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11514,hmmpanther:PTHR11514:SF3,Pfam_domain:PF01056,PIRSF_domain:PIRSF001705 MODERATE SNV 5 1 PASS CAC . . 15942549 ZFP36L2 . GRCh38 chr2 43225650 43225650 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.154T>G p.Phe52Val p.F52V ENST00000282388 2/2 49 37 12 33 33 0 ZFP36L2,missense_variant,p.Phe52Val,ENST00000282388,NM_006887.4;LINC01126,upstream_gene_variant,,ENST00000623515,;AC010883.1,upstream_gene_variant,,ENST00000423354,;,regulatory_region_variant,,ENSR00000116141,; C ENSG00000152518 ENST00000282388 Transcript missense_variant 448/3696 154/1485 52/494 F/V Ttc/Gtc 1 -1 ZFP36L2 HGNC HGNC:1108 protein_coding YES CCDS1811.1 ENSP00000282388 P47974 UPI000013DCDA NM_006887.4 deleterious(0) possibly_damaging(0.903) 2/2 Pfam_domain:PF04553,hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF100 MODERATE 1 SNV 1 PASS AAT . . 43225650 TGOLN2 . GRCh38 chr2 85327493 85327493 + Missense_Mutation SNP G G C rs1238981161 7316-1760 BS_GVA39GGG G G c.239C>G p.Thr80Ser p.T80S ENST00000409232 2/4 56 49 5 32 32 0 TGOLN2,missense_variant,p.Thr80Ser,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Thr80Ser,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000409015,;TGOLN2,missense_variant,p.Thr80Ser,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; C ENSG00000152291 ENST00000409232 Transcript missense_variant 301/2235 239/1362 80/453 T/S aCc/aGc rs1238981161,COSM6288195,COSM1722795 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(1) benign(0) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGT . . 85327493 USP19 . GRCh38 chr3 49111578 49111578 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.3133A>C p.Ile1045Leu p.I1045L ENST00000434032 21/27 71 63 8 36 36 0 USP19,missense_variant,p.Ile1035Leu,ENST00000453664,NM_001199162.1;USP19,missense_variant,p.Ile1047Leu,ENST00000417901,NM_001199161.1,NM_001351101.1,NM_001351099.1;USP19,missense_variant,p.Ile1045Leu,ENST00000434032,NM_001199160.1,NM_001351100.1;USP19,missense_variant,p.Ile984Leu,ENST00000398892,;USP19,missense_variant,p.Ile944Leu,ENST00000398888,NM_006677.2;USP19,missense_variant,p.Ile984Leu,ENST00000398898,;USP19,missense_variant,p.Ile843Leu,ENST00000398896,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,upstream_gene_variant,,ENST00000483667,; G ENSG00000172046 ENST00000434032 Transcript missense_variant 3345/4677 3133/4260 1045/1419 I/L Att/Ctt 1 -1 USP19 HGNC HGNC:12617 protein_coding YES CCDS56254.1 ENSP00000401197 O94966 UPI000198CAB3 NM_001199160.1,NM_001351100.1 tolerated(0.77) benign(0) 21/27 Gene3D:3.90.70.10,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR44532 MODERATE 1 SNV 2 PASS ATT . . 49111578 RBM15B . GRCh38 chr3 51391545 51391545 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.146T>G p.Val49Gly p.V49G ENST00000563281 1/1 56 41 11 27 27 0 RBM15B,missense_variant,p.Val49Gly,ENST00000563281,NM_013286.4;DCAF1,downstream_gene_variant,,ENST00000423656,NM_014703.2;DCAF1,downstream_gene_variant,,ENST00000504652,NM_001171904.1;MANF,downstream_gene_variant,,ENST00000528157,NM_006010.5;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;,regulatory_region_variant,,ENSR00000152421,; G ENSG00000259956 ENST00000563281 Transcript missense_variant 278/6641 146/2673 49/890 V/G gTt/gGt 1 1 RBM15B HGNC HGNC:24303 protein_coding YES CCDS33764.1 ENSP00000454545 Q8NDT2 UPI0000160BDE NM_013286.4 deleterious_low_confidence(0.01) benign(0.012) 1/1 Gene3D:3.30.70.330,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF40,mobidb-lite MODERATE SNV PASS GTT . . 51391545 CACNA2D3 . GRCh38 chr3 54122763 54122763 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.50T>G p.Leu17Arg p.L17R ENST00000474759 1/38 34 24 7 29 29 0 CACNA2D3,missense_variant,p.Leu17Arg,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Leu17Arg,ENST00000288197,;CACNA2D3,missense_variant,p.Leu17Arg,ENST00000415676,;CACNA2D3,upstream_gene_variant,,ENST00000490478,;CACNA2D3,upstream_gene_variant,,ENST00000620722,;CACNA2D3,upstream_gene_variant,,ENST00000471363,;CACNA2D3,upstream_gene_variant,,ENST00000477024,;,regulatory_region_variant,,ENSR00000152714,; G ENSG00000157445 ENST00000474759 Transcript missense_variant 98/3675 50/3276 17/1091 L/R cTt/cGt 1 1 CACNA2D3 HGNC HGNC:15460 protein_coding YES CCDS54598.1 ENSP00000419101 Q8IZS8 UPI000004A7BF NM_018398.2 tolerated_low_confidence(0.1) possibly_damaging(0.5) 1/38 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 PASS CTT . . 54122763 ILDR1 . GRCh38 chr3 121993679 121993679 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1070T>G p.Ile357Ser p.I357S ENST00000462014 7/8 72 58 12 32 30 1 ILDR1,missense_variant,p.Ile357Ser,ENST00000462014,NM_001199799.1;ILDR1,missense_variant,p.Ile357Ser,ENST00000344209,;ILDR1,missense_variant,p.Ile313Ser,ENST00000273691,NM_175924.3;ILDR1,missense_variant,p.Ile268Ser,ENST00000393631,NM_001199800.1;ILDR1,3_prime_UTR_variant,,ENST00000642615,;ILDR1,non_coding_transcript_exon_variant,,ENST00000460554,; C ENSG00000145103 ENST00000462014 Transcript missense_variant 1251/2866 1070/1641 357/546 I/S aTt/aGt 1 -1 ILDR1 HGNC HGNC:28741 protein_coding YES CCDS56271.1 ENSP00000419414 Q86SU0 UPI00003FF1E2 NM_001199799.1 tolerated(0.42) benign(0) 7/8 hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF3 MODERATE 1 SNV 1 1 PASS AAT . . 121993679 MUC4 . GRCh38 chr3 195788228 195788228 + Missense_Mutation SNP T T C rs71321848 7316-1760 BS_GVA39GGG T T c.3352A>G p.Thr1118Ala p.T1118A ENST00000463781 2/25 33 23 5 24 19 0 MUC4,missense_variant,p.Thr1118Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr1118Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr1118Ala,ENST00000478156,;MUC4,missense_variant,p.Thr1118Ala,ENST00000466475,;MUC4,missense_variant,p.Thr1118Ala,ENST00000477756,;MUC4,missense_variant,p.Thr1118Ala,ENST00000477086,;MUC4,missense_variant,p.Thr1118Ala,ENST00000480843,;MUC4,missense_variant,p.Thr1118Ala,ENST00000462323,;MUC4,missense_variant,p.Thr1118Ala,ENST00000470451,;MUC4,missense_variant,p.Thr1118Ala,ENST00000479406,;,regulatory_region_variant,,ENSR00000308220,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 3812/17110 3352/16239 1118/5412 T/A Acc/Gcc rs71321848,COSM5021436 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.21) possibly_damaging(0.689) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GTG . . 6.773e-05 0.0005114 4.855e-05 0.0004854 6.178e-05 0.0002938 195788228 AC111000.2 . GRCh38 chr4 69069644 69069644 + Splice_Region DEL A A - rs10589397 7316-1760 BS_GVA39GGG A A n.315del ENST00000507775 3/3 56 32 20 42 40 0 UGT2B7,intron_variant,,ENST00000502942,;UGT2B7,intron_variant,,ENST00000509763,;AC111000.2,splice_region_variant,,ENST00000507775,; - ENSG00000248763 ENST00000507775 Transcript splice_region_variant,non_coding_transcript_exon_variant 306/550 rs10589397 1 1 AC111000.2 Clone_based_ensembl_gene unprocessed_pseudogene YES 3/3 LOW 1 deletion 9 PASS GTAA . . 69069643 SAP30 . GRCh38 chr4 173371283 173371283 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.101A>C p.Asn34Thr p.N34T ENST00000296504 1/4 45 32 11 21 20 0 SAP30,missense_variant,p.Asn34Thr,ENST00000296504,NM_003864.3;AC097534.2,upstream_gene_variant,,ENST00000608794,;AC097534.2,upstream_gene_variant,,ENST00000608892,;AC097534.2,upstream_gene_variant,,ENST00000609153,;AC097534.2,upstream_gene_variant,,ENST00000609900,;SAP30,downstream_gene_variant,,ENST00000504618,;,regulatory_region_variant,,ENSR00000176229,; C ENSG00000164105 ENST00000296504 Transcript missense_variant 341/1108 101/663 34/220 N/T aAc/aCc 1 1 SAP30 HGNC HGNC:10532 protein_coding YES CCDS3817.1 ENSP00000296504 O75446 UPI000006F36D NM_003864.3 tolerated_low_confidence(0.28) benign(0.003) 1/4 Low_complexity_(Seg):seg,hmmpanther:PTHR13286,hmmpanther:PTHR13286:SF7 MODERATE 1 SNV 1 PASS AAC . . 173371283 NKD2 . GRCh38 chr5 1009520 1009520 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.101A>C p.Lys34Thr p.K34T ENST00000296849 3/10 53 38 12 40 40 0 NKD2,missense_variant,p.Lys34Thr,ENST00000296849,NM_033120.3;NKD2,missense_variant,p.Lys34Thr,ENST00000274150,NM_001271082.1;AC116351.2,downstream_gene_variant,,ENST00000606540,; C ENSG00000145506 ENST00000296849 Transcript missense_variant 330/2155 101/1356 34/451 K/T aAa/aCa 1 1 NKD2 HGNC HGNC:17046 protein_coding YES CCDS3859.1 ENSP00000296849 Q969F2 UPI0000073E19 NM_033120.3 deleterious(0) benign(0.07) 3/10 mobidb-lite,hmmpanther:PTHR22611:SF1,hmmpanther:PTHR22611 MODERATE 1 SNV 1 PASS AAA . . 1009520 IRX1 . GRCh38 chr5 3596164 3596164 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.59A>C p.Tyr20Ser p.Y20S ENST00000302006 1/4 35 28 6 14 14 0 IRX1,missense_variant,p.Tyr20Ser,ENST00000302006,NM_024337.3;AC016595.1,downstream_gene_variant,,ENST00000559410,; C ENSG00000170549 ENST00000302006 Transcript missense_variant 111/1858 59/1443 20/480 Y/S tAc/tCc 1 1 IRX1 HGNC HGNC:14358 protein_coding YES CCDS34132.1 ENSP00000305244 P78414 UPI00001B6455 NM_024337.3 deleterious(0.01) probably_damaging(0.991) 1/4 hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211 MODERATE 1 SNV 1 PASS TAC . . 3596164 HCN1 . GRCh38 chr5 45696093 45696093 + Translation_Start_Site SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1A>C p.Met1? p.M1? ENST00000303230 1/8 41 31 9 24 23 0 HCN1,start_lost,p.Met1?,ENST00000303230,NM_021072.3;HCN1,start_lost,p.Met1?,ENST00000634658,;HCN1,upstream_gene_variant,,ENST00000638054,;,regulatory_region_variant,,ENSR00000180287,; G ENSG00000164588 ENST00000303230 Transcript start_lost 242/9885 1/2673 1/890 M/L Atg/Ctg 1 -1 HCN1 HGNC HGNC:4845 protein_coding YES CCDS3952.1 ENSP00000307342 O60741 UPI00001AED69 NM_021072.3 tolerated_low_confidence(0.4) benign(0.003) 1/8 PDB-ENSP_mappings:5u6o.A,PDB-ENSP_mappings:5u6o.B,PDB-ENSP_mappings:5u6o.C,PDB-ENSP_mappings:5u6o.D,PDB-ENSP_mappings:5u6p.A,PDB-ENSP_mappings:5u6p.B,PDB-ENSP_mappings:5u6p.C,PDB-ENSP_mappings:5u6p.D,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,mobidb-lite HIGH 1 SNV 1 1 PASS ATG . . 45696093 EFNA5 . GRCh38 chr5 107381341 107381341 + Missense_Mutation SNP C C A novel 7316-1760 BS_GVA39GGG C C c.601G>T p.Gly201Cys p.G201C ENST00000333274 5/5 67 40 26 40 40 0 EFNA5,missense_variant,p.Gly201Cys,ENST00000333274,NM_001962.2;EFNA5,missense_variant,p.Gly161Cys,ENST00000611503,;EFNA5,missense_variant,p.Gly174Cys,ENST00000509503,;EFNA5,non_coding_transcript_exon_variant,,ENST00000510359,;,regulatory_region_variant,,ENSR00000184863,; A ENSG00000184349 ENST00000333274 Transcript missense_variant 883/5335 601/687 201/228 G/C Ggc/Tgc 1 -1 EFNA5 HGNC HGNC:3225 protein_coding YES CCDS4097.1 ENSP00000328777 P52803 UPI0000129C93 NM_001962.2 deleterious(0.03) possibly_damaging(0.817) 5/5 hmmpanther:PTHR11304,hmmpanther:PTHR11304:SF33,mobidb-lite MODERATE 1 SNV 1 PASS CCG . . 107381341 FBXL17 . GRCh38 chr5 108381337 108381337 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.355T>G p.Phe119Val p.F119V ENST00000542267 1/9 70 53 13 39 37 1 FBXL17,missense_variant,p.Phe119Val,ENST00000542267,NM_001163315.2;FBXL17,5_prime_UTR_variant,,ENST00000359660,;FBXL17,upstream_gene_variant,,ENST00000619412,;FBXL17,upstream_gene_variant,,ENST00000518486,;,regulatory_region_variant,,ENSR00000184969,;,TF_binding_site_variant,,MA0473.1,; C ENSG00000145743 ENST00000542267 Transcript missense_variant 762/5188 355/2106 119/701 F/V Ttc/Gtc 1 -1 FBXL17 HGNC HGNC:13615 protein_coding YES CCDS54886.1 ENSP00000437464 Q9UF56 UPI00019B21FB NM_001163315.2 deleterious_low_confidence(0) benign(0.042) 1/9 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAG . . 108381337 SHROOM1 . GRCh38 chr5 132825519 132825519 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.622A>C p.Thr208Pro p.T208P ENST00000378679 4/10 55 44 9 34 34 0 SHROOM1,missense_variant,p.Thr208Pro,ENST00000378679,NM_001172700.1;SHROOM1,missense_variant,p.Thr208Pro,ENST00000617339,;SHROOM1,missense_variant,p.Thr208Pro,ENST00000319854,NM_133456.2;SHROOM1,missense_variant,p.Thr208Pro,ENST00000378676,;SHROOM1,missense_variant,p.Thr208Pro,ENST00000440118,;SHROOM1,upstream_gene_variant,,ENST00000488072,;SHROOM1,upstream_gene_variant,,ENST00000495680,;SHROOM1,upstream_gene_variant,,ENST00000606676,;,regulatory_region_variant,,ENSR00000186905,; G ENSG00000164403 ENST00000378679 Transcript missense_variant 1427/4019 622/2559 208/852 T/P Act/Cct 1 -1 SHROOM1 HGNC HGNC:24084 protein_coding YES CCDS54902.1 ENSP00000367950 Q2M3G4 UPI000036FD4D NM_001172700.1 tolerated(0.2) benign(0.005) 4/10 Gene3D:1.20.140.50,Pfam_domain:PF08688,PROSITE_profiles:PS51306,hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF37,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 132825519 REEP2 . GRCh38 chr5 138439210 138439210 + Translation_Start_Site SNP T T G novel 7316-1760 BS_GVA39GGG T T c.2T>G p.Met1? p.M1? ENST00000378339 1/8 42 30 6 33 32 0 REEP2,start_lost,p.Met1?,ENST00000378339,NM_001271803.1;REEP2,start_lost,p.Met1?,ENST00000254901,NM_016606.3;REEP2,5_prime_UTR_variant,,ENST00000506158,;KDM3B,downstream_gene_variant,,ENST00000314358,NM_016604.3;REEP2,upstream_gene_variant,,ENST00000512126,;KDM3B,downstream_gene_variant,,ENST00000542866,;REEP2,upstream_gene_variant,,ENST00000613650,;REEP2,non_coding_transcript_exon_variant,,ENST00000464751,;REEP2,start_lost,p.Met1?,ENST00000507511,;REEP2,non_coding_transcript_exon_variant,,ENST00000510467,;REEP2,non_coding_transcript_exon_variant,,ENST00000503379,;KDM3B,downstream_gene_variant,,ENST00000507996,;KDM3B,downstream_gene_variant,,ENST00000510866,;,regulatory_region_variant,,ENSR00000187485,; G ENSG00000132563 ENST00000378339 Transcript start_lost 194/2170 2/765 1/254 M/R aTg/aGg 1 1 REEP2 HGNC HGNC:17975 protein_coding YES CCDS64259.1 ENSP00000367590 Q9BRK0 A8K3D2 UPI0000039E47 NM_001271803.1 deleterious(0) probably_damaging(0.969) 1/8 HIGH 1 SNV 1 1 PASS ATG . . 138439210 PCDHB14 . GRCh38 chr5 141225606 141225606 + Missense_Mutation SNP T T G 7316-1760 BS_GVA39GGG T T c.2101T>G p.Phe701Val p.F701V ENST00000239449 1/1 68 51 13 31 31 0 PCDHB14,missense_variant,p.Phe701Val,ENST00000239449,NM_018934.3;PCDHB14,missense_variant,p.Phe548Val,ENST00000624896,;AC244517.10,intron_variant,,ENST00000624396,;AC244517.11,intron_variant,,ENST00000624192,;,regulatory_region_variant,,ENSR00000317587,; G ENSG00000120327 ENST00000239449 Transcript missense_variant 2675/4828 2101/2397 701/798 F/V Ttc/Gtc COSM6421539 1 1 PCDHB14 HGNC HGNC:8685 protein_coding YES CCDS4256.1 ENSP00000239449 Q9Y5E9 UPI00001273E7 NM_018934.3 deleterious_low_confidence(0) possibly_damaging(0.887) 1/1 Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg 1 MODERATE SNV 1 PASS CTT . . 141225606 PCDHGA4 . GRCh38 chr5 141357275 141357275 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.2168A>C p.Tyr723Ser p.Y723S ENST00000571252 1/4 52 42 9 34 34 0 PCDHGA4,missense_variant,p.Tyr723Ser,ENST00000571252,NM_018917.3;PCDHGA4,missense_variant,p.Tyr723Ser,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2;PCDHGB1,downstream_gene_variant,,ENST00000611598,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGA3,intron_variant,,ENST00000612467,;,regulatory_region_variant,,ENSR00000317592,; C ENSG00000262576 ENST00000571252 Transcript missense_variant 2251/4778 2168/2889 723/962 Y/S tAt/tCt 1 1 PCDHGA4 HGNC HGNC:8702 protein_coding YES CCDS58979.2 ENSP00000458570 Q9Y5G9 UPI0003583741 NM_018917.3 deleterious_low_confidence(0.01) benign(0.133) 1/4 Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAT . . 141357275 IL17B . GRCh38 chr5 149376969 149376969 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.78A>C p.Lys26Asn p.K26N ENST00000261796 2/3 45 33 8 41 41 0 IL17B,missense_variant,p.Lys26Asn,ENST00000261796,NM_014443.2;AC131025.1,downstream_gene_variant,,ENST00000521756,;IL17B,non_coding_transcript_exon_variant,,ENST00000505432,NM_001317987.1;IL17B,upstream_gene_variant,,ENST00000518814,; G ENSG00000127743 ENST00000261796 Transcript missense_variant 129/696 78/543 26/180 K/N aaA/aaC 1 -1 IL17B HGNC HGNC:5982 protein_coding YES CCDS4297.1 ENSP00000261796 Q9UHF5 UPI0000034D64 NM_014443.2 tolerated(0.13) possibly_damaging(0.888) 2/3 hmmpanther:PTHR44894,mobidb-lite MODERATE 1 SNV 1 PASS TTT . . 149376969 CDHR2 . GRCh38 chr5 176577502 176577502 + Missense_Mutation SNP T T G rs147886032 7316-1760 BS_GVA39GGG T T c.1298T>G p.Val433Gly p.V433G ENST00000510636 13/32 59 52 7 25 24 0 CDHR2,missense_variant,p.Val433Gly,ENST00000510636,NM_001171976.1;CDHR2,missense_variant,p.Val433Gly,ENST00000261944,NM_017675.4;CDHR2,missense_variant,p.Val433Gly,ENST00000506348,; G ENSG00000074276 ENST00000510636 Transcript missense_variant 1572/4509 1298/3933 433/1310 V/G gTg/gGg rs147886032 1 1 CDHR2 HGNC HGNC:18231 protein_coding YES CCDS34297.1 ENSP00000424565 Q9BYE9 UPI0000DBEE8C NM_001171976.1 deleterious(0) probably_damaging(0.983) 13/32 Gene3D:2.60.350.10,PROSITE_profiles:PS50268,hmmpanther:PTHR44787,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 0.0001163 MODERATE 1 SNV 1 PASS GTG . . 176577502 WRNIP1 . GRCh38 chr6 2766032 2766032 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.410A>C p.Lys137Thr p.K137T ENST00000380773 1/7 47 30 10 25 25 0 WRNIP1,missense_variant,p.Lys137Thr,ENST00000380773,;WRNIP1,missense_variant,p.Lys137Thr,ENST00000618555,NM_020135.2;WRNIP1,missense_variant,p.Lys137Thr,ENST00000380771,NM_130395.2;WRNIP1,upstream_gene_variant,,ENST00000380764,;WRNIP1,upstream_gene_variant,,ENST00000380769,;,regulatory_region_variant,,ENSR00000192107,; C ENSG00000124535 ENST00000380773 Transcript missense_variant 619/2670 410/1998 137/665 K/T aAg/aCg 1 1 WRNIP1 HGNC HGNC:20876 protein_coding YES CCDS4475.1 ENSP00000370150 Q96S55 UPI000004A506 deleterious_low_confidence(0.03) benign(0.227) 1/7 hmmpanther:PTHR13779,hmmpanther:PTHR13779:SF7,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAG . . 2766032 SRF . GRCh38 chr6 43171774 43171774 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.118A>C p.Asn40His p.N40H ENST00000265354 1/7 38 31 7 24 24 0 SRF,missense_variant,p.Asn40His,ENST00000265354,NM_001292001.1,NM_003131.3;,regulatory_region_variant,,ENSR00000197100,; C ENSG00000112658 ENST00000265354 Transcript missense_variant 476/4202 118/1527 40/508 N/H Aac/Cac 1 1 SRF HGNC HGNC:11291 protein_coding YES CCDS4889.1 ENSP00000265354 P11831 A0A024RD16 UPI0000135F3B NM_001292001.1,NM_003131.3 tolerated_low_confidence(0.1) possibly_damaging(0.69) 1/7 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS TAA . . 43171774 COL10A1 . GRCh38 chr6 116121251 116121251 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.865A>C p.Ile289Leu p.I289L ENST00000327673 2/2 52 43 6 29 28 0 COL10A1,missense_variant,p.Ile289Leu,ENST00000327673,;COL10A1,missense_variant,p.Ile289Leu,ENST00000243222,NM_000493.3;NT5DC1,intron_variant,,ENST00000319550,NM_152729.2;NT5DC1,intron_variant,,ENST00000419791,;COL10A1,downstream_gene_variant,,ENST00000418500,;COL10A1,downstream_gene_variant,,ENST00000452729,;NT5DC1,intron_variant,,ENST00000460749,;NT5DC1,downstream_gene_variant,,ENST00000417846,; G ENSG00000123500 ENST00000327673 Transcript missense_variant 1273/3498 865/2043 289/680 I/L Ata/Cta 1 -1 COL10A1 HGNC HGNC:2185 protein_coding YES CCDS5105.1 ENSP00000327368 Q03692 UPI0000126D28 tolerated(1) benign(0) 2/2 Gene3D:2.160.20.50,hmmpanther:PTHR44057,hmmpanther:PTHR44057:SF5,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS ATT . . 116121251 MYB . GRCh38 chr6 135181540 135181540 + Splice_Region SNP A A C novel 7316-1760 BS_GVA39GGG A A c.23+4A>C ENST00000341911 45 32 9 32 32 0 MYB,splice_region_variant,,ENST00000316528,;MYB,splice_region_variant,,ENST00000341911,NM_001130173.1;MYB,splice_region_variant,,ENST00000367814,NM_005375.3;MYB,splice_region_variant,,ENST00000420123,;MYB,splice_region_variant,,ENST00000442647,NM_001130172.1;MYB,splice_region_variant,,ENST00000525369,NM_001161657.1;MYB,splice_region_variant,,ENST00000527615,;MYB,splice_region_variant,,ENST00000528774,NM_001161656.1;MYB,splice_region_variant,,ENST00000533624,NM_001161660.1;MYB,splice_region_variant,,ENST00000534044,NM_001161659.1;MYB,splice_region_variant,,ENST00000534121,NM_001161658.1;MYB,splice_region_variant,,ENST00000616088,;MYB,splice_region_variant,,ENST00000618728,;MYB,upstream_gene_variant,,ENST00000430686,;MYB,upstream_gene_variant,,ENST00000531845,;MYB,splice_region_variant,,ENST00000339290,;MYB,splice_region_variant,,ENST00000367812,;MYB,splice_region_variant,,ENST00000438901,;MYB,splice_region_variant,,ENST00000463282,;MYB,splice_region_variant,,ENST00000524588,;MYB,splice_region_variant,,ENST00000525002,;MYB,splice_region_variant,,ENST00000525477,;MYB,splice_region_variant,,ENST00000525514,;MYB,splice_region_variant,,ENST00000525940,;MYB,splice_region_variant,,ENST00000526187,;MYB,splice_region_variant,,ENST00000526320,;MYB,splice_region_variant,,ENST00000526565,;MYB,splice_region_variant,,ENST00000526889,;MYB,splice_region_variant,,ENST00000528015,;MYB,splice_region_variant,,ENST00000528140,;MYB,splice_region_variant,,ENST00000528343,;MYB,splice_region_variant,,ENST00000528345,;MYB,splice_region_variant,,ENST00000529262,;MYB,splice_region_variant,,ENST00000529586,;MYB,splice_region_variant,,ENST00000531519,;MYB,splice_region_variant,,ENST00000531634,;MYB,splice_region_variant,,ENST00000531737,;MYB,splice_region_variant,,ENST00000533384,;MYB,splice_region_variant,,ENST00000533808,;MYB,splice_region_variant,,ENST00000533837,;,regulatory_region_variant,,ENSR00000203343,; C ENSG00000118513 ENST00000341911 Transcript splice_region_variant,intron_variant 1 1 MYB HGNC HGNC:7545 protein_coding YES CCDS47481.1 ENSP00000339992 P10242 UPI000002AE9A NM_001130173.1 1/15 LOW 1 SNV 1 1 PASS AAC . . 135181540 PRR18 . GRCh38 chr6 166307481 166307481 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.662T>G p.Val221Gly p.V221G ENST00000322583 1/1 53 39 11 21 19 0 PRR18,missense_variant,p.Val221Gly,ENST00000322583,NM_175922.3;PRR18,downstream_gene_variant,,ENST00000529616,; C ENSG00000176381 ENST00000322583 Transcript missense_variant 903/3084 662/888 221/295 V/G gTt/gGt 1 -1 PRR18 HGNC HGNC:28574 protein_coding YES CCDS5291.1 ENSP00000319590 Q8N4B5 UPI0000140E82 NM_175922.3 tolerated_low_confidence(0.36) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR10994:SF127,hmmpanther:PTHR10994,Pfam_domain:PF15671 MODERATE 1 SNV PASS AAC . . 166307481 AEBP1 . GRCh38 chr7 44104667 44104667 + Translation_Start_Site SNP T T G novel 7316-1760 BS_GVA39GGG T T c.2T>G p.Met1? p.M1? ENST00000223357 1/21 48 34 13 38 38 0 AEBP1,start_lost,p.Met1?,ENST00000223357,NM_001129.4;AEBP1,upstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000453052,;,regulatory_region_variant,,ENSR00000211784,; G ENSG00000106624 ENST00000223357 Transcript start_lost 307/4081 2/3477 1/1158 M/R aTg/aGg 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 deleterious_low_confidence(0) benign(0.284) 1/21 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 44104667 NACAD . GRCh38 chr7 45083466 45083466 + Missense_Mutation SNP G G A rs201818400 7316-1760 BS_GVA39GGG G G c.2714C>T p.Pro905Leu p.P905L ENST00000490531 2/8 48 33 11 26 25 1 NACAD,missense_variant,p.Pro905Leu,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,; A ENSG00000136274 ENST00000490531 Transcript missense_variant 2734/4780 2714/4689 905/1562 P/L cCt/cTt rs201818400,COSM3718680 1 -1 NACAD HGNC HGNC:22196 protein_coding YES CCDS47582.1 ENSP00000420477 O15069 UPI00001D747D NM_001146334.1 tolerated(0.21) benign(0) 2/8 hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF1,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS AGG . . 0.06077 0.2529 0.1036 0.02042 0.1541 0.004857 0.04472 0.07185 0.06779 45083466 SLC25A13 . GRCh38 chr7 96321938 96321938 + Splice_Region SNP T T G novel 7316-1760 BS_GVA39GGG T T c.15+4A>C ENST00000416240 48 38 7 49 49 0 SLC25A13,splice_region_variant,,ENST00000265631,NM_014251.2;SLC25A13,splice_region_variant,,ENST00000416240,NM_001160210.1;SLC25A13,splice_region_variant,,ENST00000472162,;,regulatory_region_variant,,ENSR00000215442,; G ENSG00000004864 ENST00000416240 Transcript splice_region_variant,intron_variant 1 -1 SLC25A13 HGNC HGNC:10983 protein_coding YES CCDS55130.1 ENSP00000400101 Q9UJS0 UPI0000001663 NM_001160210.1 1/17 LOW 1 SNV 1 1 PASS GTT . . 96321938 TRRAP . GRCh38 chr7 99008544 99008544 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.10879A>C p.Thr3627Pro p.T3627P ENST00000359863 69/72 57 46 11 36 36 0 TRRAP,missense_variant,p.Thr3627Pro,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Thr3616Pro,ENST00000628380,;TRRAP,missense_variant,p.Thr3598Pro,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Thr3616Pro,ENST00000446306,;TRRAP,missense_variant,p.Thr3356Pro,ENST00000456197,;TRRAP,missense_variant,p.Thr1112Pro,ENST00000360902,; C ENSG00000196367 ENST00000359863 Transcript missense_variant 11088/12677 10879/11580 3627/3859 T/P Acc/Ccc 1 1 TRRAP HGNC HGNC:12347 protein_coding YES CCDS59066.1 ENSP00000352925 Q9Y4A5 UPI00004575B4 NM_001244580.1 tolerated(0.16) possibly_damaging(0.727) 69/72 PROSITE_profiles:PS50290,cd05163,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1,Pfam_domain:PF00454,Gene3D:1.10.1070.11,SMART_domains:SM00146 MODERATE 1 SNV 1 1 PASS AAC . . 99008544 PPP1R35 . GRCh38 chr7 100435903 100435903 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.396A>C p.Glu132Asp p.E132D ENST00000292330 2/4 62 49 11 36 35 0 PPP1R35,missense_variant,p.Glu132Asp,ENST00000292330,NM_145030.2;MEPCE,downstream_gene_variant,,ENST00000310512,NM_019606.5;MEPCE,downstream_gene_variant,,ENST00000414441,NM_001194991.1,NM_001194990.1,NM_001194992.1;AC092849.2,intron_variant,,ENST00000492523,;AC092849.1,upstream_gene_variant,,ENST00000475250,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000476185,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000487452,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000491407,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000470295,;MEPCE,downstream_gene_variant,,ENST00000479201,;MEPCE,downstream_gene_variant,,ENST00000497759,;,regulatory_region_variant,,ENSR00000215791,; G ENSG00000160813 ENST00000292330 Transcript missense_variant 587/1031 396/762 132/253 E/D gaA/gaC 1 -1 PPP1R35 HGNC HGNC:28320 protein_coding YES CCDS5694.1 ENSP00000292330 Q8TAP8 UPI000006D9DB NM_145030.2 tolerated(0.1) probably_damaging(0.986) 2/4 hmmpanther:PTHR28625,Pfam_domain:PF15503 MODERATE 1 SNV 1 PASS GTT . . 100435903 MUC17 . GRCh38 chr7 101038504 101038504 + Missense_Mutation SNP C C T novel 7316-1760 BS_GVA39GGG C C c.7088C>T p.Ala2363Val p.A2363V ENST00000306151 3/13 72 59 8 40 39 1 MUC17,missense_variant,p.Ala2363Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala2363Val,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 7152/14247 7088/13482 2363/4493 A/V gCt/gTt 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.001) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCT . . 101038504 MUC17 . GRCh38 chr7 101040240 101040240 + Missense_Mutation SNP G G T 7316-1760 BS_GVA39GGG G G c.8824G>T p.Gly2942Cys p.G2942C ENST00000306151 3/13 72 50 10 35 31 0 MUC17,missense_variant,p.Gly2942Cys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2942Cys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 8888/14247 8824/13482 2942/4493 G/C Ggt/Tgt COSM743546 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.01) probably_damaging(0.921) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS CGG . . 101040240 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-1760 BS_GVA39GGG A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 64 31 32 41 41 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 HR . GRCh38 chr8 22127441 22127441 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1001A>C p.Lys334Thr p.K334T ENST00000381418 3/19 63 51 9 42 42 0 HR,missense_variant,p.Lys334Thr,ENST00000381418,NM_005144.4;HR,missense_variant,p.Lys334Thr,ENST00000312841,NM_018411.4;HR,downstream_gene_variant,,ENST00000518377,;HR,downstream_gene_variant,,ENST00000519619,;HR,upstream_gene_variant,,ENST00000517699,;HR,upstream_gene_variant,,ENST00000518461,;HR,downstream_gene_variant,,ENST00000522759,; G ENSG00000168453 ENST00000381418 Transcript missense_variant 2482/6336 1001/3570 334/1189 K/T aAa/aCa 1 -1 HR HGNC HGNC:5172 protein_coding YES CCDS6022.1 ENSP00000370826 O43593 UPI000013EB0B NM_005144.4 tolerated(0.38) benign(0.049) 3/19 hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF4 MODERATE 1 SNV 1 1 PASS TTT . . 22127441 CYP11B2 . GRCh38 chr8 142914792 142914792 + Missense_Mutation SNP T T G 7316-1760 BS_GVA39GGG T T c.712A>C p.Met238Leu p.M238L ENST00000323110 4/9 65 55 8 41 40 0 CYP11B2,missense_variant,p.Met238Leu,ENST00000323110,NM_000498.3;GML,intron_variant,,ENST00000522728,; G ENSG00000179142 ENST00000323110 Transcript missense_variant 715/2936 712/1512 238/503 M/L Atg/Ctg COSM5805577 1 -1 CYP11B2 HGNC HGNC:2592 protein_coding YES CCDS6393.1 ENSP00000325822 P19099 UPI00001282CF NM_000498.3 tolerated(0.85) benign(0.003) 4/9 PDB-ENSP_mappings:4dvq.A,PDB-ENSP_mappings:4dvq.B,PDB-ENSP_mappings:4dvq.C,PDB-ENSP_mappings:4dvq.D,PDB-ENSP_mappings:4dvq.E,PDB-ENSP_mappings:4dvq.F,PDB-ENSP_mappings:4dvq.G,PDB-ENSP_mappings:4dvq.H,PDB-ENSP_mappings:4dvq.I,PDB-ENSP_mappings:4dvq.J,PDB-ENSP_mappings:4dvq.K,PDB-ENSP_mappings:4dvq.L,PDB-ENSP_mappings:4fdh.A,PDB-ENSP_mappings:4fdh.B,PDB-ENSP_mappings:4fdh.C,PDB-ENSP_mappings:4fdh.D,PDB-ENSP_mappings:4fdh.E,PDB-ENSP_mappings:4fdh.F,PDB-ENSP_mappings:4fdh.G,PDB-ENSP_mappings:4fdh.H,PDB-ENSP_mappings:4fdh.I,PDB-ENSP_mappings:4fdh.J,PDB-ENSP_mappings:4fdh.K,PDB-ENSP_mappings:4fdh.L,PDB-ENSP_mappings:4zgx.A,PDB-ENSP_mappings:4zgx.B,PDB-ENSP_mappings:4zgx.C,PDB-ENSP_mappings:4zgx.D,PDB-ENSP_mappings:4zgx.E,PDB-ENSP_mappings:4zgx.F,PDB-ENSP_mappings:4zgx.G,PDB-ENSP_mappings:4zgx.H,PDB-ENSP_mappings:4zgx.I,PDB-ENSP_mappings:4zgx.J,PDB-ENSP_mappings:4zgx.K,PDB-ENSP_mappings:4zgx.L,hmmpanther:PTHR24279:SF112,hmmpanther:PTHR24279,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264 1 MODERATE 1 SNV 1 1 1 PASS ATG . . 142914792 LY6H . GRCh38 chr8 143160198 143160198 + Translation_Start_Site SNP A A C novel 7316-1760 BS_GVA39GGG A A c.2T>G p.Met1? p.M1? ENST00000414417 2/5 36 27 9 25 25 0 LY6H,start_lost,p.Met1?,ENST00000414417,NM_001130478.1;LY6H,start_lost,p.Met1?,ENST00000342752,NM_001135655.1;LY6H,splice_region_variant,,ENST00000615409,;LY6H,upstream_gene_variant,,ENST00000430474,NM_002347.4;LY6H,splice_region_variant,,ENST00000479685,;,regulatory_region_variant,,ENSR00000232034,; C ENSG00000176956 ENST00000414417 Transcript start_lost,splice_region_variant 236/1056 2/486 1/161 M/R aTg/aGg 1 -1 LY6H HGNC HGNC:6728 protein_coding YES CCDS47926.1 ENSP00000399485 O94772 UPI00005A7901 NM_001130478.1 deleterious_low_confidence(0) benign(0.402) 2/5 Cleavage_site_(Signalp):SignalP-noTM,mobidb-lite HIGH 1 SNV 1 PASS CAT . . 143160198 SCRIB . GRCh38 chr8 143804694 143804694 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.2883T>G p.His961Gln p.H961Q ENST00000356994 21/37 60 44 12 21 21 0 SCRIB,missense_variant,p.His961Gln,ENST00000356994,NM_182706.4;SCRIB,missense_variant,p.His961Gln,ENST00000320476,NM_015356.4;SCRIB,missense_variant,p.His880Gln,ENST00000377533,;SCRIB,upstream_gene_variant,,ENST00000526832,;SCRIB,downstream_gene_variant,,ENST00000531942,; C ENSG00000180900 ENST00000356994 Transcript missense_variant 2890/5218 2883/4968 961/1655 H/Q caT/caG 1 -1 SCRIB HGNC HGNC:30377 protein_coding YES CCDS6412.1 ENSP00000349486 Q14160 UPI000232E1C0 NM_182706.4 tolerated(0.55) benign(0.005) 21/37 hmmpanther:PTHR23119,hmmpanther:PTHR23119:SF41,Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS AAT . . 143804694 TUSC1 . GRCh38 chr9 25677906 25677906 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.416A>C p.Asn139Thr p.N139T ENST00000358022 1/1 35 28 6 33 33 0 TUSC1,missense_variant,p.Asn139Thr,ENST00000358022,NM_001004125.2;,regulatory_region_variant,,ENSR00000234077,; G ENSG00000198680 ENST00000358022 Transcript missense_variant 535/2052 416/639 139/212 N/T aAc/aCc 1 -1 TUSC1 HGNC HGNC:31010 protein_coding YES CCDS34999.1 ENSP00000350716 Q2TAM9 UPI0000161A7E NM_001004125.2 tolerated(0.16) benign(0.012) 1/1 mobidb-lite,hmmpanther:PTHR34768,hmmpanther:PTHR34768:SF3 MODERATE 1 SNV PASS GTT . . 25677906 CNTNAP3 . GRCh38 chr9 39078764 39078764 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.3599T>G p.Met1200Arg p.M1200R ENST00000297668 22/24 51 35 10 48 45 0 CNTNAP3,missense_variant,p.Met1200Arg,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Met1119Arg,ENST00000377656,;CNTNAP3,intron_variant,,ENST00000493965,;CNTNAP3,downstream_gene_variant,,ENST00000477002,;,regulatory_region_variant,,ENSR00000235026,; C ENSG00000106714 ENST00000297668 Transcript missense_variant 3673/5064 3599/3867 1200/1288 M/R aTg/aGg 1 -1 CNTNAP3 HGNC HGNC:13834 protein_coding YES CCDS6616.1 ENSP00000297668 Q9BZ76 UPI000013E43B NM_033655.3 tolerated(0.55) benign(0) 22/24 PROSITE_profiles:PS50025,hmmpanther:PTHR43925,hmmpanther:PTHR43925:SF6 MODERATE 1 SNV 1 PASS CAT . . 39078764 C9orf85 . GRCh38 chr9 71982781 71982781 + Missense_Mutation SNP G G A rs140727570 7316-1760 BS_GVA39GGG G G c.448G>A p.Ala150Thr p.A150T ENST00000377031 4/4 48 40 5 29 28 0 C9orf85,missense_variant,p.Ala150Thr,ENST00000377031,;C9orf85,intron_variant,,ENST00000486911,; A ENSG00000155621 ENST00000377031 Transcript missense_variant 638/1107 448/540 150/179 A/T Gca/Aca rs140727570 1 1 C9orf85 HGNC HGNC:28784 protein_coding ENSP00000366230 Q96MD7 UPI00000721E2 tolerated_low_confidence(0.43) benign(0) 4/4 MODERATE 1 SNV 3 PASS CGC . . 0.0003644 0.0007728 0.001005 0.0004617 71982781 GAS1 . GRCh38 chr9 86946506 86946506 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.274T>G p.Phe92Val p.F92V ENST00000298743 1/1 56 42 12 32 31 0 GAS1,missense_variant,p.Phe92Val,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;,regulatory_region_variant,,ENSR00000237164,; C ENSG00000180447 ENST00000298743 Transcript missense_variant 684/2827 274/1038 92/345 F/V Ttc/Gtc 1 -1 GAS1 HGNC HGNC:4165 protein_coding YES CCDS6674.1 ENSP00000298743 P54826 UPI0000140B67 NM_002048.2 tolerated_low_confidence(0.33) benign(0.063) 1/1 hmmpanther:PTHR16840,hmmpanther:PTHR16840:SF3,SMART_domains:SM00907,Low_complexity_(Seg):seg MODERATE SNV 1 PASS AAA . . 86946506 GAS1 . GRCh38 chr9 86946778 86946778 + Translation_Start_Site SNP A A C novel 7316-1760 BS_GVA39GGG A A c.2T>G p.Met1? p.M1? ENST00000298743 1/1 42 29 11 32 30 0 GAS1,start_lost,p.Met1?,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;,regulatory_region_variant,,ENSR00000237164,; C ENSG00000180447 ENST00000298743 Transcript start_lost 412/2827 2/1038 1/345 M/R aTg/aGg 1 -1 GAS1 HGNC HGNC:4165 protein_coding YES CCDS6674.1 ENSP00000298743 P54826 UPI0000140B67 NM_002048.2 tolerated_low_confidence(0.07) benign(0.127) 1/1 Cleavage_site_(Signalp):SignalP-noTM HIGH SNV 1 PASS CAT . . 86946778 NR4A3 . GRCh38 chr9 99828484 99828484 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.475T>G p.Phe159Val p.F159V ENST00000618101 4/9 38 27 9 32 32 0 NR4A3,missense_variant,p.Phe159Val,ENST00000618101,NM_173200.2;NR4A3,missense_variant,p.Phe159Val,ENST00000330847,;NR4A3,missense_variant,p.Phe148Val,ENST00000395097,NM_006981.3;NR4A3,missense_variant,p.Phe148Val,ENST00000338488,NM_173199.2; G ENSG00000119508 ENST00000618101 Transcript missense_variant 1243/5706 475/1914 159/637 F/V Ttc/Gtc 1 1 NR4A3 HGNC HGNC:7982 protein_coding YES CCDS6742.1 ENSP00000482027 Q92570 UPI0000160FE4 NM_173200.2 deleterious(0.01) benign(0.194) 4/9 Gene3D:1.10.565.10,Prints_domain:PR01284,hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS CTT . . 99828484 HMCN2 . GRCh38 chr9 130433692 130433692 + Nonstop_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.15179A>C p.Ter5060SerextTer131 p.*5060Sext*131 ENST00000624552 98/98 48 38 6 33 31 0 HMCN2,stop_lost,p.Ter5060SerextTer131,ENST00000624552,NM_001291815.1;HMCN2,downstream_gene_variant,,ENST00000428715,;HMCN2,non_coding_transcript_exon_variant,,ENST00000623487,;,regulatory_region_variant,,ENSR00000242203,; C ENSG00000148357 ENST00000624552 Transcript stop_lost 15179/15610 15179/15180 5060/5059 */S tAa/tCa 1 1 HMCN2 HGNC HGNC:21293 protein_coding YES ENSP00000485357 Q8NDA2 UPI0004F23675 NM_001291815.1 98/98 HIGH 1 SNV 5 PASS TAA . . 130433692 BARHL1 . GRCh38 chr9 132583084 132583084 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.287T>G p.Phe96Cys p.F96C ENST00000263610 1/3 51 41 9 32 32 0 BARHL1,missense_variant,p.Phe96Cys,ENST00000263610,NM_020064.3;BARHL1,missense_variant,p.Phe96Cys,ENST00000542090,; G ENSG00000125492 ENST00000263610 Transcript missense_variant 900/2341 287/984 96/327 F/C tTt/tGt 1 1 BARHL1 HGNC HGNC:953 protein_coding YES CCDS6950.1 ENSP00000263610 Q9BZE3 UPI0000126AD2 NM_020064.3 deleterious(0) probably_damaging(0.969) 1/3 hmmpanther:PTHR24330,hmmpanther:PTHR24330:SF8 MODERATE 1 SNV 1 PASS TTT . . 132583084 NELFB . GRCh38 chr9 137255461 137255461 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.96A>C p.Glu32Asp p.E32D ENST00000343053 1/13 55 41 13 25 25 0 NELFB,missense_variant,p.Glu32Asp,ENST00000343053,NM_015456.4;NELFB,missense_variant,p.Glu32Asp,ENST00000634710,;STPG3,downstream_gene_variant,,ENST00000388931,NM_001256699.1;STPG3,downstream_gene_variant,,ENST00000412566,NM_001004353.3;STPG3,downstream_gene_variant,,ENST00000611378,NM_001256700.1;STPG3,downstream_gene_variant,,ENST00000620243,NM_001256701.1;STPG3-AS1,upstream_gene_variant,,ENST00000612170,;STPG3,downstream_gene_variant,,ENST00000610325,;STPG3,downstream_gene_variant,,ENST00000620716,;STPG3,downstream_gene_variant,,ENST00000622761,;,regulatory_region_variant,,ENSR00000243170,; C ENSG00000188986 ENST00000343053 Transcript missense_variant 289/2698 96/1887 32/628 E/D gaA/gaC 1 1 NELFB HGNC HGNC:24324 protein_coding YES CCDS7040.2 ENSP00000339495 A0A0X1KG71 UPI000719A1CA NM_015456.4 tolerated_low_confidence(0.3) benign(0.067) 1/13 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 137255461 GDF10 . GRCh38 chr10 47310154 47310154 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.678T>G p.Asp226Glu p.D226E ENST00000580279 2/3 61 53 8 37 37 0 GDF10,missense_variant,p.Asp226Glu,ENST00000580279,NM_004962.3; G ENSG00000266524 ENST00000580279 Transcript missense_variant 944/2458 678/1437 226/478 D/E gaT/gaG 1 1 GDF10 HGNC HGNC:4215 protein_coding YES CCDS73117.1 ENSP00000464145 P55107 UPI0000126A13 NM_004962.3 tolerated(0.05) benign(0.097) 2/3 hmmpanther:PTHR11848:SF145,hmmpanther:PTHR11848,PIRSF_domain:PIRSF037403 MODERATE 1 SNV 1 PASS ATT . . 47310154 ZNF503 . GRCh38 chr10 75398801 75398801 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1889A>C p.Tyr630Ser p.Y630S ENST00000372524 2/2 50 39 10 38 38 0 ZNF503,missense_variant,p.Tyr630Ser,ENST00000372524,NM_032772.5;AC010997.3,intron_variant,,ENST00000418818,;ZNF503-AS2,upstream_gene_variant,,ENST00000425916,;ZNF503-AS2,upstream_gene_variant,,ENST00000466942,;ZNF503-AS2,upstream_gene_variant,,ENST00000486015,;ZNF503-AS2,upstream_gene_variant,,ENST00000491557,;,regulatory_region_variant,,ENSR00000030075,; G ENSG00000165655 ENST00000372524 Transcript missense_variant 2376/3347 1889/1941 630/646 Y/S tAc/tCc 1 -1 ZNF503 HGNC HGNC:23589 protein_coding YES CCDS7350.1 ENSP00000361602 Q96F45 UPI000004A951 NM_032772.5 deleterious(0) possibly_damaging(0.878) 2/2 hmmpanther:PTHR12522,hmmpanther:PTHR12522:SF3 MODERATE 1 SNV 1 PASS GTA . . 75398801 FADS2 . GRCh38 chr11 61828407 61828407 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.17A>C p.Asn6Thr p.N6T ENST00000278840 1/12 68 48 15 51 48 0 FADS2,missense_variant,p.Asn6Thr,ENST00000278840,NM_004265.3;FADS2,missense_variant,p.Asn6Thr,ENST00000521849,;FADS2,intron_variant,,ENST00000257261,NM_001281501.1;FADS1,intron_variant,,ENST00000421879,;FADS1,intron_variant,,ENST00000448607,;FADS2,intron_variant,,ENST00000517312,;FADS2,intron_variant,,ENST00000518606,;FADS2,intron_variant,,ENST00000522056,NM_001281502.1;FADS2,downstream_gene_variant,,ENST00000517839,;FADS2,downstream_gene_variant,,ENST00000522639,;FADS2,downstream_gene_variant,,ENST00000574708,;,regulatory_region_variant,,ENSR00000040343,; C ENSG00000134824 ENST00000278840 Transcript missense_variant 647/3630 17/1335 6/444 N/T aAc/aCc 1 1 FADS2 HGNC HGNC:3575 protein_coding YES CCDS8012.1 ENSP00000278840 O95864 UPI000003405E NM_004265.3 tolerated(0.39) benign(0.119) 1/12 PIRSF_domain:PIRSF015921 MODERATE 1 SNV 1 PASS AAC . . 61828407 AHNAK . GRCh38 chr11 62526332 62526332 + Missense_Mutation SNP G G T rs1184905338 7316-1760 BS_GVA39GGG G G c.8085C>A p.Phe2695Leu p.F2695L ENST00000378024 5/5 57 50 7 44 44 0 AHNAK,missense_variant,p.Phe2695Leu,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 8360/18787 8085/17673 2695/5890 F/L ttC/ttA rs1184905338 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.11) probably_damaging(0.981) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,mobidb-lite MODERATE 1 SNV 2 PASS TGA . . 62526332 ZDHHC24 . GRCh38 chr11 66539588 66539588 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.796T>G p.Leu266Val p.L266V ENST00000310442 3/3 61 51 10 41 38 1 ZDHHC24,missense_variant,p.Leu266Val,ENST00000310442,NM_207340.1;ZDHHC24,intron_variant,,ENST00000526986,NM_001348571.1;ZDHHC24,downstream_gene_variant,,ENST00000525925,;ZDHHC24,intron_variant,,ENST00000534073,; C ENSG00000174165 ENST00000310442 Transcript missense_variant 1031/4721 796/855 266/284 L/V Ttg/Gtg 1 -1 ZDHHC24 HGNC HGNC:27387 protein_coding YES CCDS8143.1 ENSP00000309429 Q6UX98 UPI000004C646 NM_207340.1 deleterious(0.01) possibly_damaging(0.458) 3/3 hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF226 MODERATE 1 SNV 1 PASS AAT . . 66539588 TRIM49 . GRCh38 chr11 89798633 89798634 + Splice_Region INS - - A rs369308066 7316-1760 BS_GVA39GGG - - c.860-5dup ENST00000329758 55 37 12 54 41 0 TRIM49,splice_region_variant,,ENST00000329758,NM_020358.2;TRIM49,splice_region_variant,,ENST00000532501,; A ENSG00000168930 ENST00000329758 Transcript splice_region_variant,intron_variant rs369308066 1 -1 TRIM49 HGNC HGNC:13431 protein_coding YES CCDS8287.1 ENSP00000327604 P0CI25 UPI000013431B NM_020358.2 7/7 LOW 1 insertion 1 PASS GCA . . 0.01855 0.02791 0.01819 0.01007 0.04022 0.01256 0.01738 0.0168 0.01375 89798633 TAS2R43 . GRCh38 chr12 11091928 11091928 + Missense_Mutation SNP G G C rs201622094 7316-1760 BS_GVA39GGG G G c.302C>G p.Thr101Ser p.T101S ENST00000531678 1/1 38 32 5 22 22 0 TAS2R43,missense_variant,p.Thr101Ser,ENST00000531678,NM_176884.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000255374 ENST00000531678 Transcript missense_variant 386/1027 302/930 101/309 T/S aCc/aGc rs201622094,COSM1127567,COSM1127566 1 -1 TAS2R43 HGNC HGNC:18875 protein_coding YES CCDS53749.1 ENSP00000431719 P59537 UPI000000D81F NM_176884.2 tolerated(1) benign(0) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF127,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15027 0.0010 0.0023 0.002 0,1,1 MODERATE SNV 0,1,1 PASS GGT . . 0.000273 0.0006779 7.444e-05 0.0002826 0.0001097 0.001022 11091928 PRB4 . GRCh38 chr12 11308844 11308844 + Missense_Mutation SNP G G C rs79595466 7316-1760 BS_GVA39GGG G G c.139C>G p.Pro47Ala p.P47A ENST00000279575 3/4 50 36 5 52 45 0 PRB4,missense_variant,p.Pro47Ala,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Pro47Ala,ENST00000535904,;PRB4,missense_variant,p.Pro47Ala,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Pro47Ala,ENST00000445719,; C ENSG00000230657 ENST00000279575 Transcript missense_variant 176/916 139/744 47/247 P/A Ccc/Gcc rs79595466 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.59) benign(0.007) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GGC . . 2.514e-05 0.0001385 0.0001344 11308844 APOLD1 . GRCh38 chr12 12786912 12786912 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.100A>C p.Met34Leu p.M34L ENST00000326765 2/2 58 41 14 35 35 0 APOLD1,missense_variant,p.Met34Leu,ENST00000326765,NM_001130415.1;APOLD1,missense_variant,p.Met3Leu,ENST00000356591,NM_030817.2;APOLD1,intron_variant,,ENST00000534843,;APOLD1,intron_variant,,ENST00000540583,;APOLD1,intron_variant,,ENST00000588943,;,regulatory_region_variant,,ENSR00000048986,; C ENSG00000178878 ENST00000326765 Transcript missense_variant 170/4724 100/840 34/279 M/L Atg/Ctg 1 1 APOLD1 HGNC HGNC:25268 protein_coding YES CCDS44833.1 ENSP00000324277 Q96LR9 UPI0000D4A841 NM_001130415.1 deleterious(0.03) benign(0.011) 2/2 hmmpanther:PTHR14096:SF1,hmmpanther:PTHR14096 MODERATE 1 SNV 1 PASS AAT . . 12786912 TSPAN11 . GRCh38 chr12 30982682 30982682 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.607A>C p.Lys203Gln p.K203Q ENST00000261177 6/8 67 57 9 37 35 0 TSPAN11,missense_variant,p.Lys203Gln,ENST00000261177,NM_001080509.2;TSPAN11,missense_variant,p.Lys203Gln,ENST00000546076,;TSPAN11,missense_variant,p.Lys132Gln,ENST00000535215,;AC008013.1,intron_variant,,ENST00000613860,;AC008013.1,upstream_gene_variant,,ENST00000612219,;AC008013.1,downstream_gene_variant,,ENST00000625497,; C ENSG00000110900 ENST00000261177 Transcript missense_variant 666/5505 607/762 203/253 K/Q Aag/Cag 1 1 TSPAN11 HGNC HGNC:30795 protein_coding YES CCDS31765.1 ENSP00000261177 A1L157 UPI00001AE7E4 NM_001080509.2 deleterious(0.05) benign(0.178) 6/8 Gene3D:1.10.1450.10,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF198,Superfamily_domains:SSF48652,cd03155 MODERATE 1 SNV 1 PASS TAA . . 30982682 AC068987.5 . GRCh38 chr12 51814256 51814256 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.638T>G p.Met213Arg p.M213R ENST00000642069 1/1 64 50 9 31 29 0 AC068987.5,missense_variant,p.Met213Arg,ENST00000642069,;SCN8A,downstream_gene_variant,,ENST00000354534,NM_014191.3,NM_001330260.1;SCN8A,downstream_gene_variant,,ENST00000545061,NM_001177984.2;FIGNL2,downstream_gene_variant,,ENST00000564840,NM_001013690.4;FIGNL2,downstream_gene_variant,,ENST00000618634,;AC068987.4,upstream_gene_variant,,ENST00000562343,;AC068987.2,upstream_gene_variant,,ENST00000565518,;AC068987.3,upstream_gene_variant,,ENST00000637934,;,regulatory_region_variant,,ENSR00000051928,; C ENSG00000284730 ENST00000642069 Transcript missense_variant 671/987 638/954 213/317 M/R aTg/aGg 1 -1 AC068987.5 Clone_based_ensembl_gene protein_coding YES ENSP00000493167 P0DPE3 UPI000BAD59F0 tolerated(0.08) benign(0) 1/1 MODERATE SNV PASS CAT . . 51814256 SOCS2 . GRCh38 chr12 93572929 93572929 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.32A>C p.Asn11Thr p.N11T ENST00000622746 2/3 54 42 11 41 40 0 SOCS2,missense_variant,p.Asn11Thr,ENST00000548537,;SOCS2,missense_variant,p.Asn11Thr,ENST00000622746,NM_001270469.1,NM_001270470.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000340600,NM_001270471.1,NM_003877.4;SOCS2,missense_variant,p.Asn11Thr,ENST00000549122,;SOCS2,missense_variant,p.Asn11Thr,ENST00000549206,NM_001270467.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000551556,;SOCS2,missense_variant,p.Asn11Thr,ENST00000536696,NM_001270468.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000549887,;SOCS2,missense_variant,p.Asn11Thr,ENST00000548091,;SOCS2,downstream_gene_variant,,ENST00000547229,;SOCS2,upstream_gene_variant,,ENST00000549510,;SOCS2,upstream_gene_variant,,ENST00000551883,;SOCS2-AS1,upstream_gene_variant,,ENST00000499137,;SOCS2-AS1,upstream_gene_variant,,ENST00000500986,;SOCS2-AS1,upstream_gene_variant,,ENST00000551626,;,regulatory_region_variant,,ENSR00000055617,; C ENSG00000120833 ENST00000622746 Transcript missense_variant 751/2881 32/597 11/198 N/T aAt/aCt 1 1 SOCS2 HGNC HGNC:19382 protein_coding YES CCDS9047.1 ENSP00000481249 O14508 A0A024RBD2 UPI0000135B63 NM_001270469.1,NM_001270470.1 tolerated_low_confidence(0.07) benign(0) 2/3 hmmpanther:PTHR44396,hmmpanther:PTHR44396:SF2,mobidb-lite MODERATE SNV 3 PASS AAT . . 93572929 SUCLA2 . GRCh38 chr13 48001176 48001176 + Splice_Region SNP T T G novel 7316-1760 BS_GVA39GGG T T c.90+4A>C ENST00000378654 67 55 10 44 44 0 SUCLA2,splice_region_variant,,ENST00000378654,NM_003850.2;SUCLA2,splice_region_variant,,ENST00000433022,;SUCLA2,splice_region_variant,,ENST00000434484,;SUCLA2,splice_region_variant,,ENST00000470760,;SUCLA2,splice_region_variant,,ENST00000643023,;SUCLA2,splice_region_variant,,ENST00000644338,;SUCLA2,splice_region_variant,,ENST00000646602,;SUCLA2,splice_region_variant,,ENST00000646932,;SUCLA2,intron_variant,,ENST00000643246,;SUCLA2,intron_variant,,ENST00000646804,;SUCLA2,upstream_gene_variant,,ENST00000642944,;SUCLA2-AS1,upstream_gene_variant,,ENST00000423869,;SUCLA2,splice_region_variant,,ENST00000497202,;SUCLA2,splice_region_variant,,ENST00000643584,;SUCLA2,splice_region_variant,,ENST00000647361,;,regulatory_region_variant,,ENSR00000062579,; G ENSG00000136143 ENST00000378654 Transcript splice_region_variant,intron_variant 1 -1 SUCLA2 HGNC HGNC:11448 protein_coding YES CCDS9406.1 ENSP00000367923 Q9P2R7 E5KS60 UPI000013CFEB NM_003850.2 1/10 LOW 1 SNV 1 1 PASS ATT . . 48001176 MLNR . GRCh38 chr13 49220435 49220435 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.98T>G p.Phe33Cys p.F33C ENST00000218721 1/2 43 36 6 40 40 0 MLNR,missense_variant,p.Phe33Cys,ENST00000218721,NM_001507.1;,regulatory_region_variant,,ENSR00000062704,; G ENSG00000102539 ENST00000218721 Transcript missense_variant 98/1239 98/1239 33/412 F/C tTt/tGt 1 1 MLNR HGNC HGNC:4495 protein_coding YES CCDS9414.1 ENSP00000218721 O43193 UPI000003C2FB NM_001507.1 deleterious(0) possibly_damaging(0.733) 1/2 Gene3D:1.20.1070.10,Prints_domain:PR01417,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF3,Superfamily_domains:SSF81321 MODERATE 1 SNV 1 PASS TTT . . 49220435 PCDH8 . GRCh38 chr13 52845942 52845942 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.2495T>G p.Phe832Cys p.F832C ENST00000377942 1/3 41 31 6 37 37 0 PCDH8,missense_variant,p.Phe832Cys,ENST00000377942,NM_002590.3;PCDH8,intron_variant,,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;,regulatory_region_variant,,ENSR00000063158,; C ENSG00000136099 ENST00000377942 Transcript missense_variant 2699/5088 2495/3213 832/1070 F/C tTt/tGt 1 -1 PCDH8 HGNC HGNC:8660 protein_coding YES CCDS9438.1 ENSP00000367177 O95206 UPI0000072D47 NM_002590.3 tolerated(0.08) possibly_damaging(0.788) 1/3 hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 52845942 TDRD3 . GRCh38 chr13 60397365 60397365 + Translation_Start_Site SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1A>C p.Met1? p.M1? ENST00000535286 1/14 43 31 8 37 36 0 TDRD3,start_lost,p.Met1?,ENST00000535286,NM_001146070.1;TDRD3,5_prime_UTR_variant,,ENST00000377881,;TDRD3,intron_variant,,ENST00000196169,NM_030794.2,NM_001146071.1;TDRD3,intron_variant,,ENST00000377894,;TDRD3,intron_variant,,ENST00000484389,;,regulatory_region_variant,,ENSR00000063294,; C ENSG00000083544 ENST00000535286 Transcript start_lost 73/2579 1/2235 1/744 M/L Atg/Ctg 1 1 TDRD3 HGNC HGNC:20612 protein_coding YES CCDS53872.1 ENSP00000440190 Q9H7E2 UPI000174200C NM_001146070.1 deleterious_low_confidence(0) possibly_damaging(0.658) 1/14 hmmpanther:PTHR13681 HIGH 1 SNV 1 PASS CAT . . 60397365 POTEG . GRCh38 chr14 19434005 19434005 + Missense_Mutation SNP C C G novel 7316-1760 BS_GVA39GGG C C c.285G>C p.Arg95Ser p.R95S ENST00000547848 1/11 110 79 13 81 76 0 POTEG,missense_variant,p.Arg95Ser,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Arg95Ser,ENST00000547722,;POTEG,missense_variant,p.Arg95Ser,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; G ENSG00000187537 ENST00000547848 Transcript missense_variant 337/2204 285/1527 95/508 R/S agG/agC 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 tolerated_low_confidence(0.14) possibly_damaging(0.724) 1/11 Gene3D:1.25.40.20,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 MODERATE 1 SNV 1 PASS TCC . . 19434005 NPAS3 . GRCh38 chr14 33800439 33800439 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.2132T>G p.Ile711Ser p.I711S ENST00000356141 12/12 49 39 9 20 19 0 NPAS3,missense_variant,p.Ile679Ser,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Ile681Ser,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Ile716Ser,ENST00000551492,;NPAS3,missense_variant,p.Ile711Ser,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Ile698Ser,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Ile685Ser,ENST00000551634,; G ENSG00000151322 ENST00000356141 Transcript missense_variant 2132/2802 2132/2802 711/933 I/S aTt/aGt 1 1 NPAS3 HGNC HGNC:19311 protein_coding YES CCDS53891.1 ENSP00000348460 Q8IXF0 X5D2Q4 UPI00000743C2 NM_001164749.1 deleterious_low_confidence(0) probably_damaging(0.979) 12/12 mobidb-lite,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF30 MODERATE 1 SNV 1 PASS ATT . . 33800439 PAX9 . GRCh38 chr14 36666555 36666555 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.725A>C p.Asn242Thr p.N242T ENST00000361487 3/4 62 53 7 55 55 0 PAX9,missense_variant,p.Asn242Thr,ENST00000361487,;PAX9,missense_variant,p.Asn242Thr,ENST00000402703,NM_006194.3;PAX9,missense_variant,p.Asn55Thr,ENST00000554201,;PAX9,non_coding_transcript_exon_variant,,ENST00000557107,;PAX9,downstream_gene_variant,,ENST00000553267,;PAX9,downstream_gene_variant,,ENST00000555639,;,regulatory_region_variant,,ENSR00000067717,;,regulatory_region_variant,,ENSR00000274140,; C ENSG00000198807 ENST00000361487 Transcript missense_variant 950/4514 725/1026 242/341 N/T aAc/aCc 1 1 PAX9 HGNC HGNC:8623 protein_coding YES CCDS9662.1 ENSP00000355245 P55771 Q2L4T1 UPI0000131377 deleterious_low_confidence(0.02) benign(0.025) 3/4 hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF297 MODERATE 1 SNV 1 1 PASS AAC . . 36666555 GCH1 . GRCh38 chr14 54902600 54902600 + Missense_Mutation SNP A A C rs1220614834 7316-1760 BS_GVA39GGG A A c.64T>G p.Phe22Val p.F22V ENST00000491895 1/6 65 58 7 30 29 0 GCH1,missense_variant,p.Phe22Val,ENST00000491895,;GCH1,missense_variant,p.Phe22Val,ENST00000622544,NM_000161.2;GCH1,missense_variant,p.Phe22Val,ENST00000395514,NM_001024024.1;GCH1,missense_variant,p.Phe22Val,ENST00000543643,NM_001024070.1;GCH1,missense_variant,p.Phe22Val,ENST00000536224,NM_001024071.1;GCH1,non_coding_transcript_exon_variant,,ENST00000254299,;GCH1,upstream_gene_variant,,ENST00000395521,;,regulatory_region_variant,,ENSR00000068779,; C ENSG00000131979 ENST00000491895 Transcript missense_variant 253/2943 64/753 22/250 F/V Ttc/Gtc rs1220614834 1 -1 GCH1 HGNC HGNC:4193 protein_coding YES CCDS9720.1 ENSP00000419045 P30793 A0A024R642 UPI0000001289 tolerated(0.24) benign(0.01) 1/6 mobidb-lite MODERATE 1 SNV 1 1 PASS AAC . . 1.01e-05 5.669e-05 54902600 PIF1 . GRCh38 chr15 64823839 64823839 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.497T>G p.Val166Gly p.V166G ENST00000333425 2/13 59 47 8 35 34 0 PIF1,missense_variant,p.Val166Gly,ENST00000268043,NM_001286499.1,NM_025049.3,NM_001286496.1;PIF1,missense_variant,p.Val166Gly,ENST00000559239,;PIF1,missense_variant,p.Val166Gly,ENST00000333425,NM_001286497.1;PIF1,non_coding_transcript_exon_variant,,ENST00000560444,;PIF1,non_coding_transcript_exon_variant,,ENST00000560504,;PIF1,upstream_gene_variant,,ENST00000558380,;PIF1,upstream_gene_variant,,ENST00000558547,;PIF1,upstream_gene_variant,,ENST00000559872,;,regulatory_region_variant,,ENSR00000277924,; C ENSG00000140451 ENST00000333425 Transcript missense_variant 592/2278 497/2124 166/707 V/G gTt/gGt 1 -1 PIF1 HGNC HGNC:26220 protein_coding YES CCDS66797.1 ENSP00000328174 Q9H611 UPI00005DB2E0 NM_001286497.1 tolerated(0.3) benign(0.001) 2/13 HAMAP:MF_03176,hmmpanther:PTHR23274,hmmpanther:PTHR23274:SF11,Gene3D:3.40.50.300 MODERATE 1 SNV 1 PASS AAC . . 64823839 ADAMTS7 . GRCh38 chr15 78767389 78767389 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.2849A>C p.Asn950Thr p.N950T ENST00000388820 18/24 75 65 10 36 35 0 ADAMTS7,missense_variant,p.Asn950Thr,ENST00000388820,NM_014272.4;ADAMTS7,intron_variant,,ENST00000566303,;ADAMTS7,downstream_gene_variant,,ENST00000565793,;ADAMTS7,downstream_gene_variant,,ENST00000568712,;ADAMTS7,upstream_gene_variant,,ENST00000569934,; G ENSG00000136378 ENST00000388820 Transcript missense_variant 3060/5490 2849/5061 950/1686 N/T aAc/aCc 1 -1 ADAMTS7 HGNC HGNC:223 protein_coding YES CCDS32303.1 ENSP00000373472 Q9UKP4 UPI00002263B3 NM_014272.4 deleterious(0) possibly_damaging(0.685) 18/24 Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142,SMART_domains:SM00209,Superfamily_domains:SSF82895 MODERATE 1 SNV 1 PASS GTT . . 78767389 ACAN . GRCh38 chr15 88856906 88856906 + Missense_Mutation SNP A A G rs200437529 7316-1760 BS_GVA39GGG A A c.4321A>G p.Thr1441Ala p.T1441A ENST00000439576 12/18 52 31 8 27 24 1 ACAN,missense_variant,p.Thr1441Ala,ENST00000560601,;ACAN,missense_variant,p.Thr1441Ala,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Thr1422Ala,ENST00000617301,;ACAN,missense_variant,p.Thr1441Ala,ENST00000559004,;ACAN,missense_variant,p.Thr1441Ala,ENST00000561243,;ACAN,missense_variant,p.Thr1441Ala,ENST00000352105,NM_001135.3;,regulatory_region_variant,,ENSR00000278890,; G ENSG00000157766 ENST00000439576 Transcript missense_variant 4695/8840 4321/7593 1441/2530 T/A Act/Gct rs200437529,COSM1129069,COSM1129068 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 tolerated(0.44) benign(0.186) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS TAC . . 4.537e-05 0.0001333 8.987e-05 6.315e-05 88856906 FAM173A . GRCh38 chr16 721605 721605 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.170A>C p.Tyr57Ser p.Y57S ENST00000569529 2/5 79 66 7 35 35 0 FAM173A,missense_variant,p.Tyr57Ser,ENST00000564000,;FAM173A,missense_variant,p.Tyr57Ser,ENST00000569529,NM_023933.2;FAM173A,missense_variant,p.Tyr57Ser,ENST00000219535,NM_001271285.1;METRN,downstream_gene_variant,,ENST00000219542,;CCDC78,downstream_gene_variant,,ENST00000293889,NM_001031737.2;CCDC78,downstream_gene_variant,,ENST00000345165,;CCDC78,downstream_gene_variant,,ENST00000423653,;METRN,downstream_gene_variant,,ENST00000567076,;METRN,downstream_gene_variant,,ENST00000568223,NM_024042.3;METRN,downstream_gene_variant,,ENST00000568415,;FAM173A,upstream_gene_variant,,ENST00000568916,;FAM173A,non_coding_transcript_exon_variant,,ENST00000566525,;FAM173A,non_coding_transcript_exon_variant,,ENST00000564640,;FAM173A,non_coding_transcript_exon_variant,,ENST00000566437,;CCDC78,downstream_gene_variant,,ENST00000439619,;CCDC78,downstream_gene_variant,,ENST00000460023,;CCDC78,downstream_gene_variant,,ENST00000463539,;CCDC78,downstream_gene_variant,,ENST00000466708,;CCDC78,downstream_gene_variant,,ENST00000471861,;CCDC78,downstream_gene_variant,,ENST00000474647,;CCDC78,downstream_gene_variant,,ENST00000478979,;CCDC78,downstream_gene_variant,,ENST00000481804,;CCDC78,downstream_gene_variant,,ENST00000482152,;CCDC78,downstream_gene_variant,,ENST00000482878,;CCDC78,downstream_gene_variant,,ENST00000485091,;CCDC78,downstream_gene_variant,,ENST00000538176,;CCDC78,downstream_gene_variant,,ENST00000544996,;METRN,downstream_gene_variant,,ENST00000564661,;METRN,downstream_gene_variant,,ENST00000570132,;FAM173A,upstream_gene_variant,,ENST00000570237,; C ENSG00000103254 ENST00000569529 Transcript missense_variant 470/1052 170/708 57/235 Y/S tAc/tCc 1 1 FAM173A HGNC HGNC:14152 protein_coding YES CCDS10423.1 ENSP00000454380 Q9BQD7 UPI000006E1B7 NM_023933.2 deleterious(0) probably_damaging(0.961) 2/5 Gene3D:3.40.50.150,hmmpanther:PTHR13610,hmmpanther:PTHR13610:SF5 MODERATE 1 SNV 1 PASS TAC . . 721605 CORO7 . GRCh38 chr16 4360368 4360368 + Splice_Region SNP T T G novel 7316-1760 BS_GVA39GGG T T c.2023-5A>C ENST00000251166 63 53 9 40 38 0 CORO7,splice_region_variant,,ENST00000251166,NM_024535.4;CORO7,splice_region_variant,,ENST00000537233,NM_001201472.1;CORO7-PAM16,splice_region_variant,,ENST00000572467,NM_001201479.1;CORO7,splice_region_variant,,ENST00000574025,NM_001201473.1;CORO7,upstream_gene_variant,,ENST00000570779,;CORO7,downstream_gene_variant,,ENST00000572044,;CORO7,downstream_gene_variant,,ENST00000572549,;PAM16,upstream_gene_variant,,ENST00000576217,;CORO7-PAM16,upstream_gene_variant,,ENST00000572274,;CORO7,splice_region_variant,,ENST00000571227,NM_001351729.1;CORO7,splice_region_variant,,ENST00000572666,;CORO7,splice_region_variant,,ENST00000574311,;CORO7-PAM16,splice_region_variant,,ENST00000575334,;CORO7,splice_region_variant,,ENST00000575531,;CORO7,splice_region_variant,,ENST00000575714,;CORO7,downstream_gene_variant,,ENST00000571756,;CORO7,upstream_gene_variant,,ENST00000572125,;CORO7,downstream_gene_variant,,ENST00000573773,;CORO7,upstream_gene_variant,,ENST00000574849,;CORO7,downstream_gene_variant,,ENST00000576437,;CORO7,upstream_gene_variant,,ENST00000576637,;,regulatory_region_variant,,ENSR00000082790,; G ENSG00000262246 ENST00000251166 Transcript splice_region_variant,intron_variant 1 -1 CORO7 HGNC HGNC:26161 protein_coding YES CCDS10513.1 ENSP00000251166 P57737 UPI00001FF898 NM_024535.4 20/27 LOW 1 SNV 1 PASS TTG . . 4360368 ZNF319 . GRCh38 chr16 57997493 57997493 + Missense_Mutation SNP T T A rs1451383061 7316-1760 BS_GVA39GGG T T c.773A>T p.Tyr258Phe p.Y258F ENST00000299237 2/2 75 66 7 46 46 0 ZNF319,missense_variant,p.Tyr258Phe,ENST00000299237,NM_020807.2;USB1,upstream_gene_variant,,ENST00000219281,NM_024598.3,NM_001330568.1;USB1,upstream_gene_variant,,ENST00000423271,NM_001204911.1;USB1,upstream_gene_variant,,ENST00000539737,NM_001195302.1;USB1,upstream_gene_variant,,ENST00000561568,;USB1,upstream_gene_variant,,ENST00000561743,;ZNF319,downstream_gene_variant,,ENST00000562909,;USB1,upstream_gene_variant,,ENST00000563149,NM_001330569.1;USB1,upstream_gene_variant,,ENST00000562534,;USB1,upstream_gene_variant,,ENST00000563207,;USB1,upstream_gene_variant,,ENST00000565662,;USB1,upstream_gene_variant,,ENST00000568848,;USB1,upstream_gene_variant,,ENST00000569252,;USB1,upstream_gene_variant,,ENST00000564387,;USB1,upstream_gene_variant,,ENST00000566292,; A ENSG00000166188 ENST00000299237 Transcript missense_variant 1396/4221 773/1749 258/582 Y/F tAc/tTc rs1451383061 1 -1 ZNF319 HGNC HGNC:13644 protein_coding YES CCDS32462.1 ENSP00000299237 Q9P2F9 UPI000013C357 NM_020807.2 tolerated(0.75) benign(0.137) 2/2 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF95,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GTA . . 57997493 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 52 35 13 32 32 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 NTN1 . GRCh38 chr17 9023341 9023341 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.968A>C p.Tyr323Ser p.Y323S ENST00000173229 2/7 52 42 9 47 46 1 NTN1,missense_variant,p.Tyr323Ser,ENST00000173229,NM_004822.2; C ENSG00000065320 ENST00000173229 Transcript missense_variant 1075/5954 968/1815 323/604 Y/S tAc/tCc 1 1 NTN1 HGNC HGNC:8029 protein_coding YES CCDS11148.1 ENSP00000173229 O95631 UPI000013C5C7 NM_004822.2 tolerated(0.08) possibly_damaging(0.898) 2/7 PDB-ENSP_mappings:4urt.A,PROSITE_profiles:PS50027,cd00055,hmmpanther:PTHR10574:SF367,hmmpanther:PTHR10574,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196 MODERATE 1 SNV 1 1 PASS TAC . . 9023341 MAP2K4 . GRCh38 chr17 12020887 12020887 + Translation_Start_Site SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1A>C p.Met1? p.M1? ENST00000415385 1/12 40 26 8 43 43 0 MAP2K4,start_lost,p.Met1?,ENST00000415385,NM_001281435.1;MAP2K4,start_lost,p.Met1?,ENST00000353533,NM_003010.3;AC005410.1,intron_variant,,ENST00000578024,;AC005410.1,intron_variant,,ENST00000579522,;MAP2K4,start_lost,p.Met1?,ENST00000602811,;MAP2K4,start_lost,p.Met1?,ENST00000602375,;MAP2K4,start_lost,p.Met1?,ENST00000602686,;MAP2K4,start_lost,p.Met1?,ENST00000602305,;MAP2K4,start_lost,p.Met1?,ENST00000602537,;MAP2K4,start_lost,p.Met1?,ENST00000582183,;MAP2K4,upstream_gene_variant,,ENST00000538465,;,regulatory_region_variant,,ENSR00000091343,; C ENSG00000065559 ENST00000415385 Transcript start_lost 54/3856 1/1233 1/410 M/L Atg/Ctg 1 1 MAP2K4 HGNC HGNC:6844 protein_coding YES CCDS62095.1 ENSP00000410402 P45985 UPI00004FB51A NM_001281435.1 deleterious_low_confidence(0) benign(0.018) 1/12 mobidb-lite HIGH 1 SNV 2 1 PASS AAT . . 12020887 EPN2 . GRCh38 chr17 19332056 19332056 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1615T>G p.Phe539Val p.F539V ENST00000314728 10/11 64 56 6 39 39 0 EPN2,missense_variant,p.Phe539Val,ENST00000314728,NM_014964.4;EPN2,missense_variant,p.Phe482Val,ENST00000347697,NM_148921.3;EPN2,missense_variant,p.Phe482Val,ENST00000395620,;EPN2,missense_variant,p.Phe254Val,ENST00000395618,NM_001102664.1;EPN2,missense_variant,p.Phe475Val,ENST00000571254,;EPN2,missense_variant,p.Phe247Val,ENST00000575595,;EPN2,missense_variant,p.Phe248Val,ENST00000494192,;EPN2,intron_variant,,ENST00000395626,;EPN2,downstream_gene_variant,,ENST00000395628,;AC124066.1,downstream_gene_variant,,ENST00000581122,;EPN2,downstream_gene_variant,,ENST00000572627,;EPN2,downstream_gene_variant,,ENST00000585097,;EPN2,downstream_gene_variant,,ENST00000580579,;EPN2,downstream_gene_variant,,ENST00000584954,; G ENSG00000072134 ENST00000314728 Transcript missense_variant 2099/4871 1615/1926 539/641 F/V Ttc/Gtc 1 1 EPN2 HGNC HGNC:18639 protein_coding YES CCDS11203.1 ENSP00000320543 O95208 UPI000013D197 NM_014964.4 deleterious(0) probably_damaging(0.997) 10/11 hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF50 MODERATE 1 SNV 1 PASS TTT . . 19332056 MYO15B . GRCh38 chr17 75616376 75616376 + Missense_Mutation SNP A A C rs1174196082 7316-1760 BS_GVA39GGG A A c.6075A>C p.Glu2025Asp p.E2025D ENST00000610510 38/63 44 26 11 33 32 0 MYO15B,missense_variant,p.Glu2025Asp,ENST00000610510,NM_001309242.1;MYO15B,missense_variant,p.Glu999Asp,ENST00000633867,;MYO15B,missense_variant,p.Glu561Asp,ENST00000642007,;MYO15B,upstream_gene_variant,,ENST00000578220,;MYO15B,upstream_gene_variant,,ENST00000583140,;MYO15B,downstream_gene_variant,,ENST00000578462,;MYO15B,3_prime_UTR_variant,,ENST00000584516,;MYO15B,3_prime_UTR_variant,,ENST00000584723,;MYO15B,non_coding_transcript_exon_variant,,ENST00000610429,;MYO15B,intron_variant,,ENST00000612587,;MYO15B,intron_variant,,ENST00000619501,;MYO15B,intron_variant,,ENST00000621743,;MYO15B,upstream_gene_variant,,ENST00000577296,;MYO15B,upstream_gene_variant,,ENST00000577342,;MYO15B,upstream_gene_variant,,ENST00000577613,;MYO15B,upstream_gene_variant,,ENST00000577785,;MYO15B,upstream_gene_variant,,ENST00000578005,;MYO15B,upstream_gene_variant,,ENST00000578300,;MYO15B,upstream_gene_variant,,ENST00000578960,;MYO15B,upstream_gene_variant,,ENST00000579048,;MYO15B,upstream_gene_variant,,ENST00000579052,;MYO15B,upstream_gene_variant,,ENST00000580096,;MYO15B,upstream_gene_variant,,ENST00000582597,; C ENSG00000266714 ENST00000610510 Transcript missense_variant 6075/9195 6075/9195 2025/3064 E/D gaA/gaC rs1174196082 1 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000488624 A0A0J9YY01 UPI00064546F0 NM_001309242.1 tolerated(0.14) probably_damaging(0.92) 38/63 Gene3D:3.40.50.300,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22692,hmmpanther:PTHR22692:SF16,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AAG . . 75616376 ADCYAP1 . GRCh38 chr18 908262 908262 + Splice_Region SNP T T G novel 7316-1760 BS_GVA39GGG T T c.243-3T>G ENST00000579794 60 51 9 48 46 0 ADCYAP1,splice_region_variant,,ENST00000450565,NM_001099733.1;ADCYAP1,splice_region_variant,,ENST00000579794,NM_001117.4;AP000894.2,upstream_gene_variant,,ENST00000582921,;AP000894.2,upstream_gene_variant,,ENST00000577358,;AP000894.2,upstream_gene_variant,,ENST00000580612,;AP000894.2,upstream_gene_variant,,ENST00000581719,;AP000894.3,upstream_gene_variant,,ENST00000582554,;ADCYAP1,splice_region_variant,,ENST00000269200,;ADCYAP1,non_coding_transcript_exon_variant,,ENST00000581602,;,regulatory_region_variant,,ENSR00000099873,; G ENSG00000141433 ENST00000579794 Transcript splice_region_variant,intron_variant 1 1 ADCYAP1 HGNC HGNC:241 protein_coding YES CCDS11825.1 ENSP00000462647 P18509 UPI000013D805 NM_001117.4 2/3 LOW 1 SNV 1 PASS TTA . . 908262 TXNDC2 . GRCh38 chr18 9887017 9887017 + Missense_Mutation SNP C C T rs754376046 7316-1760 BS_GVA39GGG C C c.538C>T p.Pro180Ser p.P180S ENST00000306084 2/2 34 27 5 28 27 0 TXNDC2,missense_variant,p.Pro113Ser,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Pro180Ser,ENST00000611534,;TXNDC2,missense_variant,p.Pro180Ser,ENST00000306084,NM_001098529.1;TXNDC2,intron_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; T ENSG00000168454 ENST00000306084 Transcript missense_variant 737/1873 538/1662 180/553 P/S Ccc/Tcc rs754376046,COSM3527953,COSM3527952 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(0.67) probably_damaging(0.977) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCC . . 4.068e-06 8.957e-06 9887017 TMEM259 . GRCh38 chr19 1010411 1010411 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1802T>G p.Val601Gly p.V601G ENST00000356663 11/11 66 57 6 33 33 0 TMEM259,missense_variant,p.Val601Gly,ENST00000356663,NM_001033026.1;TMEM259,3_prime_UTR_variant,,ENST00000333175,NM_033420.3;TMEM259,3_prime_UTR_variant,,ENST00000592590,;GRIN3B,downstream_gene_variant,,ENST00000234389,NM_138690.2;TMEM259,downstream_gene_variant,,ENST00000586250,;TMEM259,downstream_gene_variant,,ENST00000586285,;AC004528.2,non_coding_transcript_exon_variant,,ENST00000610701,;TMEM259,3_prime_UTR_variant,,ENST00000593068,;TMEM259,non_coding_transcript_exon_variant,,ENST00000586704,;TMEM259,non_coding_transcript_exon_variant,,ENST00000592618,;TMEM259,non_coding_transcript_exon_variant,,ENST00000592052,;TMEM259,downstream_gene_variant,,ENST00000589055,;TMEM259,downstream_gene_variant,,ENST00000589831,;TMEM259,downstream_gene_variant,,ENST00000607316,;,regulatory_region_variant,,ENSR00000105599,; C ENSG00000182087 ENST00000356663 Transcript missense_variant 1985/2748 1802/1863 601/620 V/G gTa/gGa 1 -1 TMEM259 HGNC HGNC:17039 protein_coding YES CCDS32862.1 ENSP00000349087 Q4ZIN3 UPI0000202E8E NM_001033026.1 tolerated_low_confidence(0.55) benign(0) 11/11 mobidb-lite MODERATE 1 SNV 1 PASS TAC . . 1010411 PIAS4 . GRCh38 chr19 4037715 4037715 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1373A>C p.Asn458Thr p.N458T ENST00000262971 11/11 40 32 6 34 34 0 PIAS4,missense_variant,p.Asn458Thr,ENST00000262971,NM_015897.3; C ENSG00000105229 ENST00000262971 Transcript missense_variant 1488/3159 1373/1533 458/510 N/T aAt/aCt 1 1 PIAS4 HGNC HGNC:17002 protein_coding YES CCDS12118.1 ENSP00000262971 Q8N2W9 UPI0000073C15 NM_015897.3 tolerated(0.34) benign(0.431) 11/11 hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF9,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 4037715 TMEM59L . GRCh38 chr19 18612844 18612844 + Splice_Region SNP T T G novel 7316-1760 BS_GVA39GGG T T c.-108-7T>G ENST00000600490 51 36 13 29 25 0 TMEM59L,splice_region_variant,,ENST00000600490,;TMEM59L,upstream_gene_variant,,ENST00000262817,NM_012109.2;TMEM59L,upstream_gene_variant,,ENST00000594709,;TMEM59L,upstream_gene_variant,,ENST00000594859,;TMEM59L,upstream_gene_variant,,ENST00000598660,;,regulatory_region_variant,,ENSR00000108114,; G ENSG00000105696 ENST00000600490 Transcript splice_region_variant,intron_variant 1 1 TMEM59L HGNC HGNC:13237 protein_coding YES CCDS12383.1 ENSP00000470879 Q9UK28 A0A024R7L4 UPI0000034024 1/8 LOW 1 SNV 5 PASS CTT . . 18612844 BORCS8-MEF2B . GRCh38 chr19 19145989 19145989 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.803A>C p.Gln268Pro p.Q268P ENST00000444486 10/10 56 38 14 36 32 1 BORCS8-MEF2B,missense_variant,p.Gln268Pro,ENST00000444486,NM_005919.3;BORCS8-MEF2B,missense_variant,p.Gln285Pro,ENST00000514819,;MEF2B,synonymous_variant,p.Pro312=,ENST00000410050,;MEF2B,synonymous_variant,p.Pro305=,ENST00000424583,NM_001145785.1;MEF2B,synonymous_variant,p.Pro223=,ENST00000409447,;MEF2B,3_prime_UTR_variant,,ENST00000409224,;BORCS8-MEF2B,downstream_gene_variant,,ENST00000602276,;BORCS8-MEF2B,downstream_gene_variant,,ENST00000602438,;BORCS8-MEF2B,3_prime_UTR_variant,,ENST00000602804,;BORCS8-MEF2B,3_prime_UTR_variant,,ENST00000354191,;BORCS8-MEF2B,3_prime_UTR_variant,,ENST00000630940,;BORCS8-MEF2B,downstream_gene_variant,,ENST00000602689,;,regulatory_region_variant,,ENSR00000108201,; G ENSG00000064489 ENST00000444486 Transcript missense_variant 1070/1492 803/1098 268/365 Q/P cAa/cCa 1 -1 BORCS8-MEF2B HGNC HGNC:39979 protein_coding YES CCDS12394.1 ENSP00000390762 A0A024R7N0 UPI000012EEB5 NM_005919.3 tolerated_low_confidence(0.29) benign(0) 10/10 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11945,hmmpanther:PTHR11945:SF335 MODERATE 1 SNV 2 PASS TTG . . 19145989 ZNF430 . GRCh38 chr19 21057384 21057384 + Missense_Mutation SNP C C A rs1355790311 7316-1760 BS_GVA39GGG C C c.1076C>A p.Thr359Asn p.T359N ENST00000261560 5/5 62 43 9 48 48 0 ZNF430,missense_variant,p.Thr359Asn,ENST00000261560,NM_001172671.1,NM_025189.3;ZNF430,upstream_gene_variant,,ENST00000597922,;ZNF430,downstream_gene_variant,,ENST00000599548,; A ENSG00000118620 ENST00000261560 Transcript missense_variant 1257/3923 1076/1713 359/570 T/N aCc/aAc rs1355790311 1 1 ZNF430 HGNC HGNC:20808 protein_coding YES CCDS32978.1 ENSP00000261560 Q9H8G1 UPI000020389E NM_001172671.1,NM_025189.3 tolerated(0.53) benign(0.033) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF131,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ACC . . 21057384 ZNF257 . GRCh38 chr19 22088415 22088415 + Missense_Mutation SNP C C T rs1337447625 7316-1760 BS_GVA39GGG C C c.665C>T p.Thr222Ile p.T222I ENST00000594947 4/4 54 43 5 41 41 0 ZNF257,missense_variant,p.Thr222Ile,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; T ENSG00000197134 ENST00000594947 Transcript missense_variant 809/3874 665/1692 222/563 T/I aCt/aTt rs1337447625 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS ACT . . 4.083e-06 6.561e-05 22088415 ZNF728 . GRCh38 chr19 22976289 22976289 + Missense_Mutation SNP C C A novel 7316-1760 BS_GVA39GGG C C c.1048G>T p.Gly350Cys p.G350C ENST00000594710 4/4 55 38 9 47 45 0 ZNF728,missense_variant,p.Gly350Cys,ENST00000594710,NM_001267716.1;ZNF728,downstream_gene_variant,,ENST00000599851,; A ENSG00000269067 ENST00000594710 Transcript missense_variant 1194/2015 1048/1869 350/622 G/C Ggt/Tgt 1 -1 ZNF728 HGNC HGNC:32463 protein_coding YES CCDS59370.1 ENSP00000471593 P0DKX0 UPI0002656E4B NM_001267716.1 deleterious(0.01) possibly_damaging(0.641) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS CCA . . 22976289 ZNF461 . GRCh38 chr19 36639154 36639154 + Missense_Mutation SNP G G T novel 7316-1760 BS_GVA39GGG G G c.1191C>A p.His397Gln p.H397Q ENST00000588268 6/6 48 37 6 50 48 0 ZNF461,missense_variant,p.His397Gln,ENST00000588268,NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1;ZNF461,missense_variant,p.His374Gln,ENST00000360357,NM_001322827.1,NM_001322826.1,NM_001297623.2;ZNF461,missense_variant,p.His397Gln,ENST00000614133,;ZNF461,missense_variant,p.His128Gln,ENST00000618437,;ZNF461,downstream_gene_variant,,ENST00000591370,NM_001322828.1;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000588844,;ZNF461,downstream_gene_variant,,ENST00000590361,; T ENSG00000197808 ENST00000588268 Transcript missense_variant 1419/2584 1191/1692 397/563 H/Q caC/caA 1 -1 ZNF461 HGNC HGNC:21629 protein_coding YES CCDS54257.1 ENSP00000467931 Q8TAF7 UPI00002021CA NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1 tolerated(0.21) benign(0.003) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF277,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGT . . 36639154 ZNF850 . GRCh38 chr19 36749942 36749942 + Missense_Mutation SNP G G C 7316-1760 BS_GVA39GGG G G c.1098C>G p.Asp366Glu p.D366E ENST00000591344 5/5 63 49 7 59 57 0 ZNF850,missense_variant,p.Asp366Glu,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Asp334Glu,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; C ENSG00000267041 ENST00000591344 Transcript missense_variant 1257/7714 1098/3273 366/1090 D/E gaC/gaG COSM6235945,COSM6235944 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 tolerated(1) benign(0.023) 5/5 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS AGT . . 36749942 MAP3K10 . GRCh38 chr19 40192032 40192032 + Translation_Start_Site SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1A>C p.Met1? p.M1? ENST00000253055 1/10 44 28 12 27 26 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; C ENSG00000130758 ENST00000253055 Transcript start_lost 289/3436 1/2865 1/954 M/L Atg/Ctg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.456) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS CAT . . 40192032 MEGF8 . GRCh38 chr19 42375857 42375857 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.7620T>G p.Asp2540Glu p.D2540E ENST00000251268 42/42 62 45 13 32 31 1 MEGF8,missense_variant,p.Asp134Glu,ENST00000378073,;MEGF8,missense_variant,p.Asp2473Glu,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Asp2540Glu,ENST00000251268,NM_001271938.1;MEGF8,3_prime_UTR_variant,,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,non_coding_transcript_exon_variant,,ENST00000599787,; G ENSG00000105429 ENST00000251268 Transcript missense_variant 7620/9549 7620/8538 2540/2845 D/E gaT/gaG 1 1 MEGF8 HGNC HGNC:3233 protein_coding YES CCDS62693.1 ENSP00000251268 Q7Z7M0 UPI00005788D1 NM_001271938.1 tolerated(0.75) benign(0.281) 42/42 hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ATG . . 42375857 FOXA3 . GRCh38 chr19 45872237 45872237 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.232T>G p.Phe78Val p.F78V ENST00000302177 2/2 63 49 12 33 32 0 FOXA3,missense_variant,p.Phe78Val,ENST00000302177,NM_004497.2;FOXA3,missense_variant,p.Phe45Val,ENST00000594297,; G ENSG00000170608 ENST00000302177 Transcript missense_variant 429/1989 232/1053 78/350 F/V Ttc/Gtc 1 1 FOXA3 HGNC HGNC:5023 protein_coding YES CCDS12677.1 ENSP00000304004 P55318 A0A024R0R3 UPI0000000DF9 NM_004497.2 tolerated(0.54) benign(0.258) 2/2 Pfam_domain:PF08430,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF201,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTT . . 45872237 ZNF541 . GRCh38 chr19 47545467 47545467 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1062T>G p.Asn354Lys p.N354K ENST00000391901 3/15 60 49 7 35 35 0 ZNF541,missense_variant,p.Asn354Lys,ENST00000314121,;ZNF541,missense_variant,p.Asn354Lys,ENST00000391901,NM_001277075.1;ZNF541,upstream_gene_variant,,ENST00000263351,;ZNF541,upstream_gene_variant,,ENST00000595558,;ZNF541,upstream_gene_variant,,ENST00000487275,; C ENSG00000118156 ENST00000391901 Transcript missense_variant 1062/4580 1062/4041 354/1346 N/K aaT/aaG 1 -1 ZNF541 HGNC HGNC:25294 protein_coding YES CCDS46133.2 ENSP00000375770 Q9H0D2 UPI0000E5A21D NM_001277075.1 tolerated(0.08) benign(0.025) 3/15 hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23 MODERATE 1 SNV 5 PASS AAT . . 47545467 RDH13 . GRCh38 chr19 55045233 55045233 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.837A>C p.Glu279Asp p.E279D ENST00000415061 7/7 49 39 7 30 30 0 RDH13,missense_variant,p.Glu208Asp,ENST00000396247,NM_138412.3;RDH13,missense_variant,p.Glu208Asp,ENST00000610356,;RDH13,missense_variant,p.Glu279Asp,ENST00000415061,NM_001145971.1;AC011476.3,intron_variant,,ENST00000593060,;AC011476.3,downstream_gene_variant,,ENST00000586845,;AC011476.3,downstream_gene_variant,,ENST00000586961,;AC011476.2,non_coding_transcript_exon_variant,,ENST00000585492,;RDH13,upstream_gene_variant,,ENST00000586331,;RDH13,downstream_gene_variant,,ENST00000589605,;RDH13,upstream_gene_variant,,ENST00000591868,;RDH13,upstream_gene_variant,,ENST00000592423,;RDH13,3_prime_UTR_variant,,ENST00000291892,;RDH13,3_prime_UTR_variant,,ENST00000592573,;RDH13,intron_variant,,ENST00000591960,;RDH13,downstream_gene_variant,,ENST00000587721,; G ENSG00000160439 ENST00000415061 Transcript missense_variant 981/1871 837/996 279/331 E/D gaA/gaC 1 -1 RDH13 HGNC HGNC:19978 protein_coding YES CCDS54320.1 ENSP00000391121 Q8NBN7 A0A024R4M8 UPI000003F042 NM_001145971.1 tolerated(0.35) benign(0.018) 7/7 cd09807,hmmpanther:PTHR43157,hmmpanther:PTHR43157:SF17,Gene3D:3.40.50.720,Superfamily_domains:SSF51735 MODERATE 1 SNV 1 PASS GTT . . 55045233 SHISA7 . GRCh38 chr19 55433334 55433334 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1439A>C p.His480Pro p.H480P ENST00000376325 4/4 61 47 8 30 30 0 SHISA7,missense_variant,p.His480Pro,ENST00000376325,NM_001145176.1;SHISA7,3_prime_UTR_variant,,ENST00000416792,; G ENSG00000187902 ENST00000376325 Transcript missense_variant 1439/6033 1439/1617 480/538 H/P cAc/cCc 1 -1 SHISA7 HGNC HGNC:35409 protein_coding YES CCDS46193.1 ENSP00000365503 A6NL88 UPI000193055E NM_001145176.1 tolerated(0.35) benign(0.272) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF2 MODERATE 1 SNV 2 PASS GTG . . 55433334 ZNF865 . GRCh38 chr19 55615077 55615077 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1459T>G p.Phe487Val p.F487V ENST00000568956 2/2 40 24 10 19 16 0 ZNF865,missense_variant,p.Phe487Val,ENST00000568956,NM_001195605.1;ZNF865,upstream_gene_variant,,ENST00000630143,;AC008735.4,upstream_gene_variant,,ENST00000614815,;,regulatory_region_variant,,ENSR00000111687,; G ENSG00000261221 ENST00000568956 Transcript missense_variant 1813/4005 1459/3180 487/1059 F/V Ttc/Gtc 1 1 ZNF865 HGNC HGNC:38705 protein_coding YES CCDS58681.1 ENSP00000457715 P0CJ78 UPI0000D6181D NM_001195605.1 tolerated(0.23) unknown(0) 2/2 Gene3D:3.30.160.60,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF62,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CTT . . 55615077 ZNF343 . GRCh38 chr20 2483386 2483386 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.1698A>C p.Glu566Asp p.E566D ENST00000612935 8/8 46 32 6 41 36 0 ZNF343,missense_variant,p.Glu566Asp,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Glu525Asp,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Glu435Asp,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; G ENSG00000088876 ENST00000612935 Transcript missense_variant 2112/3675 1698/1923 566/640 E/D gaA/gaC 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 tolerated(0.11) benign(0.191) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS ATT . . 2483386 RPN2 . GRCh38 chr20 37179357 37179357 + Translation_Start_Site SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1A>C p.Met1? p.M1? ENST00000237530 1/17 55 43 12 44 43 0 RPN2,start_lost,p.Met1?,ENST00000237530,NM_002951.4,NM_001324299.1,NM_001324304.1,NM_001324305.1,NM_001324301.1,NM_001324302.1,NM_001324303.1;RPN2,start_lost,p.Met1?,ENST00000373622,NM_001324306.1,NM_001135771.2;RPN2,start_lost,p.Met1?,ENST00000373632,;MROH8,missense_variant,p.His68Gln,ENST00000343811,NM_152503.5;MROH8,missense_variant,p.His41Gln,ENST00000400441,;MROH8,missense_variant,p.His72Gln,ENST00000400440,NM_213631.2;MROH8,missense_variant,p.His78Gln,ENST00000421643,NM_213632.2;RPN2,intron_variant,,ENST00000456102,;MROH8,upstream_gene_variant,,ENST00000422138,;MROH8,upstream_gene_variant,,ENST00000434295,;RPN2,5_prime_UTR_variant,,ENST00000462163,;,regulatory_region_variant,,ENSR00000136789,; C ENSG00000118705 ENST00000237530 Transcript start_lost 312/2515 1/1896 1/631 M/L Atg/Ctg 1 1 RPN2 HGNC HGNC:10382 protein_coding YES CCDS13291.1 ENSP00000237530 P04844 UPI0000000C52 NM_002951.4,NM_001324299.1,NM_001324304.1,NM_001324305.1,NM_001324301.1,NM_001324302.1,NM_001324303.1 tolerated_low_confidence(0.15) benign(0.007) 1/17 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS AAT . . 37179357 SEMG2 . GRCh38 chr20 45222990 45222990 + Missense_Mutation SNP C C A rs771458905 7316-1760 BS_GVA39GGG C C c.1358C>A p.Pro453His p.P453H ENST00000372769 2/3 65 53 11 48 47 1 SEMG2,missense_variant,p.Pro453His,ENST00000372769,NM_003008.2; A ENSG00000124157 ENST00000372769 Transcript missense_variant 1448/2051 1358/1749 453/582 P/H cCt/cAt rs771458905,COSM1130626 1 1 SEMG2 HGNC HGNC:10743 protein_coding YES CCDS13346.1 ENSP00000361855 Q02383 UPI0000135845 NM_003008.2 tolerated(0.19) probably_damaging(0.983) 2/3 Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CCT . . 1.22e-05 1.793e-05 0.0001825 45222990 HELZ2 . GRCh38 chr20 63563934 63563934 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.4888T>G p.Phe1630Val p.F1630V ENST00000467148 8/19 66 54 10 37 36 0 HELZ2,missense_variant,p.Phe1630Val,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Phe1061Val,ENST00000427522,NM_033405.3;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,upstream_gene_variant,,ENST00000478861,; C ENSG00000130589 ENST00000467148 Transcript missense_variant 4958/8064 4888/7950 1630/2649 F/V Ttc/Gtc 1 -1 HELZ2 HGNC HGNC:30021 protein_coding YES CCDS33508.1 ENSP00000417401 Q9BYK8 UPI0000246BF7 NM_001037335.2 tolerated(0.25) benign(0.007) 8/19 hmmpanther:PTHR10887:SF428,hmmpanther:PTHR10887,Pfam_domain:PF00773,SMART_domains:SM00955 MODERATE 1 SNV 1 PASS AAT . . 63563934 KRTAP10-11 . GRCh38 chr21 44647009 44647009 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.551A>C p.Tyr184Ser p.Y184S ENST00000334670 1/1 46 33 9 38 35 0 KRTAP10-11,missense_variant,p.Tyr184Ser,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000243489 ENST00000334670 Transcript missense_variant 596/1237 551/897 184/298 Y/S tAc/tCc 1 1 KRTAP10-11 HGNC HGNC:20528 protein_coding YES CCDS42962.1 ENSP00000334197 P60412 UPI000040FC94 NM_198692.2 tolerated(0.12) benign(0) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF125 MODERATE SNV PASS TAC . . 44647009 MICALL1 . GRCh38 chr22 37922354 37922354 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.952A>C p.Thr318Pro p.T318P ENST00000215957 6/16 44 30 10 29 27 0 MICALL1,missense_variant,p.Thr318Pro,ENST00000215957,NM_033386.3;MICALL1,downstream_gene_variant,,ENST00000445494,;MICALL1,upstream_gene_variant,,ENST00000454685,;MICALL1,upstream_gene_variant,,ENST00000402631,;MICALL1,downstream_gene_variant,,ENST00000489812,; C ENSG00000100139 ENST00000215957 Transcript missense_variant 1078/4710 952/2592 318/863 T/P Acg/Ccg 1 1 MICALL1 HGNC HGNC:29804 protein_coding YES CCDS13961.1 ENSP00000215957 Q8N3F8 UPI000000DCAE NM_033386.3 deleterious(0.04) benign(0.003) 6/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44664,Gene3D:2.10.110.10 MODERATE 1 SNV 1 PASS CAC . . 37922354 SBF1 . GRCh38 chr22 50468396 50468396 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.121T>G p.Phe41Val p.F41V ENST00000380817 2/41 50 38 11 36 34 0 SBF1,missense_variant,p.Phe41Val,ENST00000380817,NM_002972.3;SBF1,missense_variant,p.Phe41Val,ENST00000348911,;SBF1,non_coding_transcript_exon_variant,,ENST00000399627,;SBF1,upstream_gene_variant,,ENST00000477234,; C ENSG00000100241 ENST00000380817 Transcript missense_variant 305/8008 121/5682 41/1893 F/V Ttc/Gtc 1 -1 SBF1 HGNC HGNC:10542 protein_coding YES CCDS14091.2 ENSP00000370196 O95248 UPI00001D69ED NM_002972.3 deleterious(0) benign(0.146) 2/41 PROSITE_profiles:PS50211,Pfam_domain:PF03456,SMART_domains:SM00800 MODERATE 1 SNV 1 1 PASS AAT . . 50468396 SHROOM2 . GRCh38 chrX 9786547 9786547 + Translation_Start_Site SNP T T G novel 7316-1760 BS_GVA39GGG T T c.2T>G p.Met1? p.M1? ENST00000380913 1/10 36 27 5 17 17 0 SHROOM2,start_lost,p.Met1?,ENST00000380913,NM_001649.3;GPR143,upstream_gene_variant,,ENST00000447366,;,regulatory_region_variant,,ENSR00000244230,; G ENSG00000146950 ENST00000380913 Transcript start_lost 92/7447 2/4851 1/1616 M/R aTg/aGg 1 1 SHROOM2 HGNC HGNC:630 protein_coding YES CCDS14135.1 ENSP00000370299 Q13796 UPI0000125D05 NM_001649.3 deleterious_low_confidence(0) benign(0.001) 1/10 HIGH 1 SNV 1 PASS ATG . . 9786547 USP11 . GRCh38 chrX 47239352 47239352 + Missense_Mutation SNP T T G novel 7316-1760 BS_GVA39GGG T T c.417T>G p.Asp139Glu p.D139E ENST00000218348 3/21 52 44 7 46 45 0 USP11,missense_variant,p.Asp96Glu,ENST00000377107,;USP11,missense_variant,p.Asp139Glu,ENST00000218348,NM_004651.3;USP11,splice_region_variant,,ENST00000377078,;USP11,splice_region_variant,,ENST00000377080,;USP11,splice_region_variant,,ENST00000469080,;USP11,splice_region_variant,,ENST00000478596,;USP11,upstream_gene_variant,,ENST00000480104,;USP11,upstream_gene_variant,,ENST00000488848,;USP11,upstream_gene_variant,,ENST00000489030,;USP11,upstream_gene_variant,,ENST00000489111,; G ENSG00000102226 ENST00000218348 Transcript missense_variant,splice_region_variant 466/3338 417/2892 139/963 D/E gaT/gaG 1 1 USP11 HGNC HGNC:12609 protein_coding YES CCDS14277.1 ENSP00000218348 P51784 UPI0000161434 NM_004651.3 tolerated(0.19) benign(0.103) 3/21 PDB-ENSP_mappings:4mel.A,PDB-ENSP_mappings:4mel.B,PROSITE_profiles:PS51283,hmmpanther:PTHR43913:SF4,hmmpanther:PTHR43913,Pfam_domain:PF06337,Gene3D:3.30.2230.10,SMART_domains:SM00695,Superfamily_domains:SSF143791 MODERATE 1 SNV 1 PASS ATG . . 47239352 PPP1R3F . GRCh38 chrX 49286084 49286084 + Missense_Mutation SNP A A C novel 7316-1760 BS_GVA39GGG A A c.1394A>C p.Asn465Thr p.N465T ENST00000055335 4/4 61 50 10 30 29 0 PPP1R3F,missense_variant,p.Asn465Thr,ENST00000055335,NM_033215.4;PPP1R3F,missense_variant,p.Asn119Thr,ENST00000376188,;PPP1R3F,missense_variant,p.Asn119Thr,ENST00000466508,;PPP1R3F,missense_variant,p.Asn119Thr,ENST00000495799,NM_001184745.1;PPP1R3F,intron_variant,,ENST00000471261,; C ENSG00000049769 ENST00000055335 Transcript missense_variant 1410/3421 1394/2400 465/799 N/T aAt/aCt 1 1 PPP1R3F HGNC HGNC:14944 protein_coding YES CCDS35254.1 ENSP00000055335 Q6ZSY5 UPI00001D7BA8 NM_033215.4 deleterious_low_confidence(0.03) benign(0.037) 4/4 hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF36,mobidb-lite MODERATE 1 SNV 2 PASS AAT . . 49286084 LONRF3 . GRCh38 chrX 118975235 118975235 + Missense_Mutation SNP T T G rs1436197907 7316-1760 BS_GVA39GGG T T c.455T>G p.Val152Gly p.V152G ENST00000371628 1/11 55 47 5 27 27 0 LONRF3,missense_variant,p.Val152Gly,ENST00000304778,NM_024778.5;LONRF3,missense_variant,p.Val152Gly,ENST00000371628,NM_001031855.2;LONRF3,upstream_gene_variant,,ENST00000422289,NM_001289109.1;LONRF3,upstream_gene_variant,,ENST00000439603,;LONRF3,upstream_gene_variant,,ENST00000472173,;LONRF3,missense_variant,p.Val152Gly,ENST00000481285,;,regulatory_region_variant,,ENSR00000248305,; G ENSG00000175556 ENST00000371628 Transcript missense_variant 486/2550 455/2280 152/759 V/G gTg/gGg rs1436197907 1 1 LONRF3 HGNC HGNC:21152 protein_coding YES CCDS35374.1 ENSP00000360690 Q496Y0 UPI0000211E03 NM_001031855.2 tolerated(0.39) benign(0) 1/11 Gene3D:3.30.40.10,hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF5,Superfamily_domains:SSF57850,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 3.673e-05 0.0003056 1.816e-05 118975235 ZFP92 . GRCh38 chrX 153421236 153421236 + Missense_Mutation SNP C C A novel 7316-1760 BS_GVA39GGG C C c.859C>A p.Arg287Ser p.R287S ENST00000338647 4/4 64 54 9 26 24 0 ZFP92,missense_variant,p.Arg287Ser,ENST00000338647,NM_001136273.1; A ENSG00000189420 ENST00000338647 Transcript missense_variant 860/6105 859/1251 287/416 R/S Cgc/Agc 1 1 ZFP92 HGNC HGNC:12865 protein_coding YES CCDS59177.1 ENSP00000462054 A6NM28 UPI000052B478 NM_001136273.1 tolerated(1) benign(0.001) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF634,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS CCG . . 153421236 LDLRAD2 . GRCh38 chr1 21814655 21814655 + Missense_Mutation SNP T T G novel 7316-2667 BS_PFE6M2EW T T c.343T>G p.Phe115Val p.F115V ENST00000344642 2/5 75 63 11 28 27 0 LDLRAD2,missense_variant,p.Phe115Val,ENST00000344642,NM_001013693.2;LDLRAD2,missense_variant,p.Phe115Val,ENST00000543870,;,regulatory_region_variant,,ENSR00000002816,;,regulatory_region_variant,,ENSR00000250678,; G ENSG00000187942 ENST00000344642 Transcript missense_variant 530/4012 343/819 115/272 F/V Ttc/Gtc 1 1 LDLRAD2 HGNC HGNC:32071 protein_coding YES CCDS30624.1 ENSP00000340988 Q5SZI1 UPI0000470177 NM_001013693.2 deleterious(0.01) benign(0.254) 2/5 Gene3D:2.60.120.290,hmmpanther:PTHR24652,hmmpanther:PTHR24652:SF67,Superfamily_domains:SSF49854 MODERATE 1 SNV 2 PASS GTT . . 21814655 RPTN . GRCh38 chr1 152156639 152156639 + Missense_Mutation SNP T T C rs113327860 7316-2667 BS_PFE6M2EW T T c.460A>G p.Arg154Gly p.R154G ENST00000316073 3/3 55 44 11 37 36 0 RPTN,missense_variant,p.Arg154Gly,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; C ENSG00000215853 ENST00000316073 Transcript missense_variant 525/3569 460/2355 154/784 R/G Aga/Gga rs113327860,COSM1498488 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 deleterious(0) benign(0.276) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0.0009566 0.002792 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 6.64e-06 5.668e-05 152156639 FLG2 . GRCh38 chr1 152355334 152355334 + Missense_Mutation SNP C C A rs201979853 7316-2667 BS_PFE6M2EW C C c.2452G>T p.Ala818Ser p.A818S ENST00000388718 3/3 70 57 12 40 39 0 FLG2,missense_variant,p.Ala818Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 2525/9124 2452/7176 818/2391 A/S Gct/Tct rs201979853,COSM5950887 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCG . . 2.404e-05 0.0001749 1.012e-05 0.0002303 3.854e-05 152355334 PXDN . GRCh38 chr2 1649186 1649186 + Missense_Mutation SNP T T G novel 7316-2667 BS_PFE6M2EW T T c.2594A>C p.Asn865Thr p.N865T ENST00000252804 17/23 69 55 6 46 43 0 PXDN,missense_variant,p.Asn865Thr,ENST00000252804,NM_012293.2;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,; G ENSG00000130508 ENST00000252804 Transcript missense_variant 2645/6808 2594/4440 865/1479 N/T aAt/aCt 1 -1 PXDN HGNC HGNC:14966 protein_coding YES CCDS46221.1 ENSP00000252804 Q92626 UPI00001C1DC2 NM_012293.2 tolerated(0.17) benign(0.062) 17/23 cd09826,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF75 MODERATE 1 SNV 1 1 PASS ATT . . 1649186 ABHD10 . GRCh38 chr3 111991597 111991597 + Missense_Mutation SNP G G C novel 7316-2667 BS_PFE6M2EW G G c.797G>C p.Ser266Thr p.S266T ENST00000273359 5/5 66 50 16 50 50 0 ABHD10,missense_variant,p.Ser266Thr,ENST00000273359,NM_018394.3;ABHD10,downstream_gene_variant,,ENST00000494817,NM_001272069.1;ABHD10,3_prime_UTR_variant,,ENST00000491580,;ABHD10,3_prime_UTR_variant,,ENST00000493784,; C ENSG00000144827 ENST00000273359 Transcript missense_variant 824/2590 797/921 266/306 S/T aGc/aCc 1 1 ABHD10 HGNC HGNC:25656 protein_coding YES CCDS2963.1 ENSP00000273359 Q9NUJ1 UPI0000042225 NM_018394.3 tolerated(0.1) probably_damaging(0.951) 5/5 hmmpanther:PTHR16138:SF7,hmmpanther:PTHR16138,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474 MODERATE 1 SNV 1 PASS AGC . . 111991597 COPB2 . GRCh38 chr3 139369272 139369272 + Missense_Mutation SNP G G C novel 7316-2667 BS_PFE6M2EW G G c.1390C>G p.Gln464Glu p.Q464E ENST00000333188 12/22 60 36 23 51 51 0 COPB2,missense_variant,p.Gln464Glu,ENST00000333188,NM_004766.2;COPB2,missense_variant,p.Gln435Glu,ENST00000507777,;COPB2,missense_variant,p.Gln87Glu,ENST00000512309,;COPB2,downstream_gene_variant,,ENST00000510181,; C ENSG00000184432 ENST00000333188 Transcript missense_variant 1572/3360 1390/2721 464/906 Q/E Cag/Gag 1 -1 COPB2 HGNC HGNC:2232 protein_coding YES CCDS3108.1 ENSP00000329419 P35606 UPI0000161FB4 NM_004766.2 tolerated(0.97) benign(0.038) 12/22 hmmpanther:PTHR19876,hmmpanther:PTHR19876:SF2,Gene3D:2.130.10.10,PIRSF_domain:PIRSF005567,Pfam_domain:PF04053,Superfamily_domains:SSF50978 MODERATE 1 SNV 1 1 PASS TGA . . 139369272 PIK3CA . GRCh38 chr3 179234297 179234297 + Missense_Mutation SNP A A G rs121913279 7316-2667 BS_PFE6M2EW A A c.3140A>G p.His1047Arg p.H1047R ENST00000263967 21/21 60 37 23 51 51 0 PIK3CA,missense_variant,p.His1047Arg,ENST00000263967,NM_006218.3;PIK3CA,3_prime_UTR_variant,,ENST00000643187,;KCNMB3,downstream_gene_variant,,ENST00000485523,NM_171829.2; G ENSG00000121879 ENST00000263967 Transcript missense_variant 3297/9093 3140/3207 1047/1068 H/R cAt/cGt rs121913279,COSM94987,COSM94986,COSM776,COSM775,COSM249874 1 1 PIK3CA HGNC HGNC:8975 protein_coding YES CCDS43171.1 ENSP00000263967 P42336 UPI000013D494 NM_006218.3 tolerated(0.11) benign(0.085) 21/21 Gene3D:1.10.1070.11,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5dxt.A,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5ubr.A,PDB-ENSP_mappings:5uk8.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,PIRSF_domain:PIRSF000587,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF94,SMART_domains:SM00146,Superfamily_domains:SSF56112,cd05175 likely_pathogenic,pathogenic 0,1,1,1,1,1 15520168,15608678,17673550,23946963,15016963,22658544,22729222,26266975,26266985,28163917,25710561,28347348 MODERATE 1 SNV 2 1,1,1,1,1,1 1 PASS CAT . . 4.083e-06 9.04e-06 179234297 MUC4 . GRCh38 chr3 195786583 195786583 + Missense_Mutation SNP G G T rs1465732285 7316-2667 BS_PFE6M2EW G G c.4997C>A p.Pro1666His p.P1666H ENST00000463781 2/25 35 25 6 34 29 0 MUC4,missense_variant,p.Pro1666His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro1666His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro1666His,ENST00000478156,;MUC4,missense_variant,p.Pro1666His,ENST00000466475,;MUC4,missense_variant,p.Pro1666His,ENST00000477756,;MUC4,missense_variant,p.Pro1666His,ENST00000477086,;MUC4,missense_variant,p.Pro1666His,ENST00000480843,;MUC4,missense_variant,p.Pro1666His,ENST00000462323,;MUC4,missense_variant,p.Pro1666His,ENST00000470451,;MUC4,missense_variant,p.Pro1666His,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 5457/17110 4997/16239 1666/5412 P/H cCt/cAt rs1465732285,COSM5049589 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.02) possibly_damaging(0.897) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS AGG . . 1.286e-05 0.0002548 195786583 SLC9B1 . GRCh38 chr4 102911454 102911454 + Nonsense_Mutation SNP G G A rs75599926 7316-2667 BS_PFE6M2EW G G c.913C>T p.Arg305Ter p.R305* ENST00000296422 8/12 59 53 6 55 54 0 SLC9B1,stop_gained,p.Arg305Ter,ENST00000296422,NM_139173.3;SLC9B1,stop_gained,p.Arg305Ter,ENST00000394789,NM_001100874.2;SLC9B1,stop_gained,p.Arg248Ter,ENST00000514340,;SLC9B1,stop_gained,p.Arg30Ter,ENST00000511253,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,upstream_gene_variant,,ENST00000509614,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,3_prime_UTR_variant,,ENST00000510243,; A ENSG00000164037 ENST00000296422 Transcript stop_gained 1055/1879 913/1548 305/515 R/* Cga/Tga rs75599926,COSM4158717 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 8/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 HIGH 1 SNV 1 0,1 PASS CGA . . 0.02514 0.01757 0.02884 0.01827 0.02377 0.01651 0.02874 0.01667 0.02071 102911454 SLC9B1 . GRCh38 chr4 102911493 102911493 + Missense_Mutation SNP T T A rs200816768 7316-2667 BS_PFE6M2EW T T c.874A>T p.Ile292Phe p.I292F ENST00000296422 8/12 55 49 6 57 57 0 SLC9B1,missense_variant,p.Ile292Phe,ENST00000296422,NM_139173.3;SLC9B1,missense_variant,p.Ile292Phe,ENST00000394789,NM_001100874.2;SLC9B1,missense_variant,p.Ile235Phe,ENST00000514340,;SLC9B1,missense_variant,p.Ile17Phe,ENST00000511253,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,upstream_gene_variant,,ENST00000509614,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,3_prime_UTR_variant,,ENST00000510243,; A ENSG00000164037 ENST00000296422 Transcript missense_variant 1016/1879 874/1548 292/515 I/F Att/Ttt rs200816768,COSM1315920 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 deleterious(0.03) benign(0.2) 8/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 MODERATE 1 SNV 1 0,1 PASS ATA . . 0.02262 0.01413 0.0264 0.01607 0.02254 0.01462 0.02591 0.01292 0.01892 102911493 SLC9B1 . GRCh38 chr4 102911508 102911508 + Missense_Mutation SNP T T C rs201645894 7316-2667 BS_PFE6M2EW T T c.859A>G p.Ile287Val p.I287V ENST00000296422 8/12 51 45 6 54 54 0 SLC9B1,missense_variant,p.Ile287Val,ENST00000296422,NM_139173.3;SLC9B1,missense_variant,p.Ile287Val,ENST00000394789,NM_001100874.2;SLC9B1,missense_variant,p.Ile230Val,ENST00000514340,;SLC9B1,missense_variant,p.Ile12Val,ENST00000511253,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,upstream_gene_variant,,ENST00000509614,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,3_prime_UTR_variant,,ENST00000510243,; C ENSG00000164037 ENST00000296422 Transcript missense_variant 1001/1879 859/1548 287/515 I/V Ata/Gta rs201645894,COSM1315921 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 tolerated(1) benign(0.01) 8/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5 0,1 MODERATE 1 SNV 1 0,1 PASS ATA . . 0.002001 0.0007524 0.003332 0.001846 0.001948 0.0007193 0.002119 0.0006372 0.001677 102911508 SMARCA5 . GRCh38 chr4 143514072 143514072 + Missense_Mutation SNP A A C novel 7316-2667 BS_PFE6M2EW A A c.148A>C p.Ser50Arg p.S50R ENST00000283131 1/24 78 59 14 48 47 0 SMARCA5,missense_variant,p.Ser50Arg,ENST00000283131,NM_003601.3;SMARCA5-AS1,non_coding_transcript_exon_variant,,ENST00000500800,;,regulatory_region_variant,,ENSR00000174152,; C ENSG00000153147 ENST00000283131 Transcript missense_variant 610/7923 148/3159 50/1052 S/R Agc/Cgc 1 1 SMARCA5 HGNC HGNC:11101 protein_coding YES CCDS3761.1 ENSP00000283131 O60264 UPI000006E693 NM_003601.3 tolerated(0.54) benign(0) 1/24 hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF887,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAG . . 143514072 ZDHHC11 . GRCh38 chr5 840641 840641 + Missense_Mutation SNP T T C novel 7316-2667 BS_PFE6M2EW T T c.638A>G p.Asn213Ser p.N213S ENST00000283441 5/13 106 81 25 70 70 0 ZDHHC11,missense_variant,p.Asn213Ser,ENST00000283441,NM_024786.2;ZDHHC11,5_prime_UTR_variant,,ENST00000511539,;ZDHHC11,intron_variant,,ENST00000511193,;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000503758,;ZDHHC11,intron_variant,,ENST00000508951,;ZDHHC11,missense_variant,p.Asn74Ser,ENST00000507800,;ZDHHC11,downstream_gene_variant,,ENST00000503880,;ZDHHC11,downstream_gene_variant,,ENST00000505815,;ZDHHC11,downstream_gene_variant,,ENST00000512190,; C ENSG00000188818 ENST00000283441 Transcript missense_variant 1022/2604 638/1239 213/412 N/S aAt/aGt 1 -1 ZDHHC11 HGNC HGNC:19158 protein_coding YES CCDS3857.1 ENSP00000283441 Q9H8X9 UPI000013C384 NM_024786.2 tolerated(0.54) benign(0.055) 5/13 Pfam_domain:PF01529,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF22 MODERATE 1 SNV 1 PASS ATT . . 840641 PJA2 . GRCh38 chr5 109337362 109337363 + Splice_Region INS - - A rs759207479 7316-2667 BS_PFE6M2EW - - c.2002-7dup ENST00000361189 51 38 6 44 40 0 PJA2,splice_region_variant,,ENST00000361189,NM_014819.4;PJA2,splice_region_variant,,ENST00000361557,; A ENSG00000198961 ENST00000361189 Transcript splice_region_variant,intron_variant rs759207479,TMP_ESP_5_108673064_108673064 1 -1 PJA2 HGNC HGNC:17481 protein_coding YES CCDS4099.1 ENSP00000354775 O43164 UPI000013D192 NM_014819.4 9/9 0.008677 0.008844 LOW 1 insertion 1 PASS AGA . . 0.01657 0.01634 0.03319 0.02682 0.02473 0.005195 0.01293 0.026 0.02107 109337362 TFAP2B . GRCh38 chr6 50823636 50823636 + Missense_Mutation SNP A A C novel 7316-2667 BS_PFE6M2EW A A c.311A>C p.His104Pro p.H104P ENST00000393655 2/7 68 61 6 36 35 0 TFAP2B,missense_variant,p.His104Pro,ENST00000393655,NM_003221.3;TFAP2B,missense_variant,p.His102Pro,ENST00000344788,;TFAP2B,non_coding_transcript_exon_variant,,ENST00000489228,; C ENSG00000008196 ENST00000393655 Transcript missense_variant 480/5773 311/1383 104/460 H/P cAt/cCt 1 1 TFAP2B HGNC HGNC:11743 protein_coding YES CCDS4934.2 ENSP00000377265 Q92481 UPI000020DE90 NM_003221.3 tolerated(0.13) benign(0.03) 2/7 hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF14,mobidb-lite MODERATE 1 SNV 1 1 PASS CAT . . 50823636 KCNQ5 . GRCh38 chr6 72622203 72622203 + Missense_Mutation SNP A A C novel 7316-2667 BS_PFE6M2EW A A c.14A>C p.His5Pro p.H5P ENST00000342056 1/15 76 68 6 57 57 0 KCNQ5,missense_variant,p.His5Pro,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,missense_variant,p.His5Pro,ENST00000355635,;KCNQ5,missense_variant,p.His5Pro,ENST00000402622,;KCNQ5,missense_variant,p.His5Pro,ENST00000355194,;KCNQ5,missense_variant,p.His5Pro,ENST00000403813,;KCNQ5,missense_variant,p.His5Pro,ENST00000370398,NM_019842.3;KCNQ5,missense_variant,p.His5Pro,ENST00000414165,;KCNQ5,missense_variant,p.His5Pro,ENST00000628967,NM_001160134.1;KCNQ5,missense_variant,p.His5Pro,ENST00000629977,NM_001160130.1;KCNQ5,missense_variant,p.His5Pro,ENST00000370392,;,regulatory_region_variant,,ENSR00000321416,; C ENSG00000185760 ENST00000342056 Transcript missense_variant 412/6688 14/2856 5/951 H/P cAc/cCc 1 1 KCNQ5 HGNC HGNC:6299 protein_coding YES CCDS55034.1 ENSP00000345055 Q9NR82 UPI000155D644 NM_001160132.1,NM_001160133.1 deleterious_low_confidence(0) benign(0) 1/15 MODERATE 1 SNV 5 1 PASS CAC . . 72622203 STXBP5 . GRCh38 chr6 147204534 147204534 + Translation_Start_Site SNP T T G 7316-2667 BS_PFE6M2EW T T c.2T>G p.Met1? p.M1? ENST00000321680 1/28 79 69 10 37 34 1 STXBP5,start_lost,p.Met1?,ENST00000367481,NM_139244.4;STXBP5,start_lost,p.Met1?,ENST00000321680,NM_001127715.2;STXBP5,start_lost,p.Met1?,ENST00000367480,;STXBP5,start_lost,p.Met1?,ENST00000546097,;STXBP5-AS1,non_coding_transcript_exon_variant,,ENST00000367477,;STXBP5-AS1,non_coding_transcript_exon_variant,,ENST00000427394,;STXBP5-AS1,upstream_gene_variant,,ENST00000417502,;,regulatory_region_variant,,ENSR00000204706,; G ENSG00000164506 ENST00000321680 Transcript start_lost 2/3456 2/3456 1/1151 M/R aTg/aGg COSM3744973,COSM3744972 1 1 STXBP5 HGNC HGNC:19665 protein_coding YES CCDS47499.1 ENSP00000321826 Q5T5C0 UPI0000199FE0 NM_001127715.2 deleterious(0) probably_damaging(0.942) 1/28 1,1 HIGH SNV 5 1,1 PASS ATG . . 147204534 ARID1B . GRCh38 chr6 156778573 156778573 + Missense_Mutation SNP T T G novel 7316-2667 BS_PFE6M2EW T T c.644T>G p.Val215Gly p.V215G ENST00000346085 1/20 36 28 5 49 48 1 ARID1B,missense_variant,p.Val215Gly,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Val215Gly,ENST00000636930,;ARID1B,missense_variant,p.Val215Gly,ENST00000350026,NM_017519.2;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000604082,;MIR4466,downstream_gene_variant,,ENST00000606121,;AL355297.4,upstream_gene_variant,,ENST00000603191,;AL355297.2,downstream_gene_variant,,ENST00000604792,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; G ENSG00000049618 ENST00000346085 Transcript missense_variant 1200/10194 644/6750 215/2249 V/G gTc/gGc 1 1 ARID1B HGNC HGNC:18040 protein_coding YES CCDS55072.1 ENSP00000344546 Q8NFD5 UPI000058E4B2 NM_020732.3 tolerated_low_confidence(0.42) benign(0) 1/20 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:3.40.50.1980 MODERATE 1 SNV 1 1 PASS GTC . . 156778573 TAS2R5 . GRCh38 chr7 141790416 141790416 + Missense_Mutation SNP A A C novel 7316-2667 BS_PFE6M2EW A A c.55A>C p.Ile19Leu p.I19L ENST00000247883 1/1 66 58 8 50 50 0 TAS2R5,missense_variant,p.Ile19Leu,ENST00000247883,NM_018980.2;SSBP1,downstream_gene_variant,,ENST00000465582,;TAS2R6P,downstream_gene_variant,,ENST00000605022,; C ENSG00000127366 ENST00000247883 Transcript missense_variant 200/1151 55/900 19/299 I/L Atc/Ctc 1 1 TAS2R5 HGNC HGNC:14912 protein_coding YES CCDS5869.1 ENSP00000247883 Q9NYW4 A4D1U0 UPI0000038B0D NM_018980.2 tolerated(0.13) benign(0.263) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF8,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd13950 MODERATE 1 SNV PASS CAT . . 141790416 MGAM2 . GRCh38 chr7 142220638 142220638 + Missense_Mutation SNP G G T novel 7316-2667 BS_PFE6M2EW G G c.6127G>T p.Ala2043Ser p.A2043S ENST00000477922 48/48 74 69 5 48 48 0 MGAM2,missense_variant,p.Ala2043Ser,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,; T ENSG00000257743 ENST00000477922 Transcript missense_variant 6181/7867 6127/7548 2043/2515 A/S Gct/Tct 1 1 MGAM2 HGNC HGNC:28101 protein_coding YES CCDS78281.1 ENSP00000420449 Q2M2H8 UPI0002B8321D NM_001293626.1 tolerated_low_confidence(0.23) unknown(0) 48/48 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TGC . . 142220638 FGFR1 . GRCh38 chr8 38417331 38417331 + Missense_Mutation SNP G G T rs779707422 7316-2667 BS_PFE6M2EW G G c.1731C>A p.Asn577Lys p.N577K ENST00000425967 13/19 68 31 37 42 42 0 FGFR1,missense_variant,p.Asn546Lys,ENST00000447712,NM_023110.2;FGFR1,missense_variant,p.Asn544Lys,ENST00000397091,NM_015850.3;FGFR1,missense_variant,p.Asn544Lys,ENST00000532791,NM_001174063.1;FGFR1,missense_variant,p.Asn577Lys,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Asn536Lys,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Asn457Lys,ENST00000356207,NM_001174066.1,NM_023105.2;FGFR1,missense_variant,p.Asn455Lys,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Asn544Lys,ENST00000397113,NM_001174065.1;FGFR1,missense_variant,p.Asn457Lys,ENST00000397103,;FGFR1,missense_variant,p.Asn544Lys,ENST00000397108,;FGFR1,3_prime_UTR_variant,,ENST00000341462,;FGFR1,3_prime_UTR_variant,,ENST00000619564,;AC087623.2,upstream_gene_variant,,ENST00000528407,;FGFR1,upstream_gene_variant,,ENST00000526688,;FGFR1,downstream_gene_variant,,ENST00000530701,;FGFR1,3_prime_UTR_variant,,ENST00000487647,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527114,;FGFR1,non_coding_transcript_exon_variant,,ENST00000466021,;FGFR1,non_coding_transcript_exon_variant,,ENST00000533619,;FGFR1,downstream_gene_variant,,ENST00000475621,;FGFR1,downstream_gene_variant,,ENST00000524528,;FGFR1,downstream_gene_variant,,ENST00000527745,;FGFR1,upstream_gene_variant,,ENST00000531196,; T ENSG00000077782 ENST00000425967 Transcript missense_variant 2054/5375 1731/2562 577/853 N/K aaC/aaA rs779707422,COSM1284966,COSM1284967,COSM1284968,COSM1737759,COSM19176,COSM302229,COSM302230,COSM302231,COSM3670398,COSM4971832 1 -1 FGFR1 HGNC HGNC:3688 protein_coding YES CCDS55223.1 ENSP00000393312 P11362 UPI0001CE06A3 NM_001174067.1 deleterious(0) probably_damaging(0.989) 13/19 Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00219,Superfamily_domains:SSF56112,cd05098 likely_pathogenic,pathogenic 0,1,1,1,1,1,1,1,1,1,1 10766980,23819449,26942290 MODERATE 1 SNV 1 1,1,1,1,1,1,1,1,1,1,1 1 PASS GGT . . 38417331 GRINA . GRCh38 chr8 143991420 143991420 + Missense_Mutation SNP A A C 7316-2667 BS_PFE6M2EW A A c.197A>C p.Gln66Pro p.Q66P ENST00000313269 2/7 81 65 11 35 32 1 GRINA,missense_variant,p.Gln66Pro,ENST00000313269,NM_000837.1;GRINA,missense_variant,p.Gln66Pro,ENST00000395068,NM_001009184.1;GRINA,missense_variant,p.Gln66Pro,ENST00000529301,;GRINA,missense_variant,p.Gln66Pro,ENST00000530898,;PARP10,intron_variant,,ENST00000530478,;PARP10,upstream_gene_variant,,ENST00000313028,NM_032789.4;PARP10,upstream_gene_variant,,ENST00000313059,;PARP10,upstream_gene_variant,,ENST00000524918,;PARP10,upstream_gene_variant,,ENST00000525486,;PARP10,upstream_gene_variant,,ENST00000525773,NM_001317895.1;PARP10,upstream_gene_variant,,ENST00000525879,;GRINA,upstream_gene_variant,,ENST00000527194,;PARP10,upstream_gene_variant,,ENST00000528136,;PARP10,upstream_gene_variant,,ENST00000528625,;PARP10,upstream_gene_variant,,ENST00000528914,;PARP10,upstream_gene_variant,,ENST00000529311,;PARP10,upstream_gene_variant,,ENST00000529842,;PARP10,upstream_gene_variant,,ENST00000531537,;PARP10,upstream_gene_variant,,ENST00000531707,;PARP10,upstream_gene_variant,,ENST00000532311,;GRINA,upstream_gene_variant,,ENST00000533044,;GRINA,upstream_gene_variant,,ENST00000534791,;PARP10,upstream_gene_variant,,ENST00000532660,;PARP10,upstream_gene_variant,,ENST00000533665,;PARP10,upstream_gene_variant,,ENST00000534737,;GRINA,non_coding_transcript_exon_variant,,ENST00000531992,;GRINA,upstream_gene_variant,,ENST00000525513,;PARP10,upstream_gene_variant,,ENST00000527262,;PARP10,upstream_gene_variant,,ENST00000528580,;GRINA,upstream_gene_variant,,ENST00000533377,; C ENSG00000178719 ENST00000313269 Transcript missense_variant 475/1968 197/1116 66/371 Q/P cAa/cCa COSM6370741 1 1 GRINA HGNC HGNC:4589 protein_coding YES CCDS34961.1 ENSP00000314380 Q7Z429 UPI000015A99B NM_000837.1 tolerated(0.38) benign(0) 2/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23291:SF16,hmmpanther:PTHR23291 1 MODERATE SNV 5 1 PASS CAA . . 143991420 DNAJC1 . GRCh38 chr10 22003353 22003355 + In_Frame_Del DEL GCG GCG - rs774181643 7316-2667 BS_PFE6M2EW GCG GCG c.80_82del p.Pro27del p.P27del ENST00000376980 1/12 76 64 5 40 38 0 DNAJC1,inframe_deletion,p.Pro27del,ENST00000376980,NM_022365.3;DNAJC1,non_coding_transcript_exon_variant,,ENST00000447548,;DNAJC1,inframe_deletion,p.Pro27del,ENST00000476103,;DNAJC1,non_coding_transcript_exon_variant,,ENST00000376946,;,regulatory_region_variant,,ENSR00000025439,; - ENSG00000136770 ENST00000376980 Transcript inframe_deletion 371-373/2106 80-82/1665 27-28/554 PR/R cCGCgg/cgg rs774181643,TMP_ESP_10_22292282_22292284 1 -1 DNAJC1 HGNC HGNC:20090 protein_coding YES CCDS7136.1 ENSP00000366179 Q96KC8 UPI0000049FEF NM_022365.3 1/12 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM 0.001979 0.006571 MODERATE 1 deletion 1 PASS CCGCGG . . 0.004636 0.002203 0.01548 0.002796 0.02211 0.001969 0.00408 0.004577 0.005831 22003352 GPR158 . GRCh38 chr10 25176139 25176139 + Missense_Mutation SNP A A C novel 7316-2667 BS_PFE6M2EW A A c.719A>C p.Asn240Thr p.N240T ENST00000376351 1/11 81 68 10 33 33 0 GPR158,missense_variant,p.Asn240Thr,ENST00000376351,NM_020752.2;GPR158-AS1,non_coding_transcript_exon_variant,,ENST00000449643,;,regulatory_region_variant,,ENSR00000258603,; C ENSG00000151025 ENST00000376351 Transcript missense_variant 1078/6959 719/3648 240/1215 N/T aAt/aCt 1 1 GPR158 HGNC HGNC:23689 protein_coding YES CCDS31166.1 ENSP00000365529 Q5T848 UPI0000199875 NM_020752.2 tolerated(0.48) benign(0.005) 1/11 hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Gene3D:3.30.450.20 MODERATE 1 SNV 1 PASS AAT . . 25176139 APBB1IP . GRCh38 chr10 26567252 26567252 + Missense_Mutation SNP T T G novel 7316-2667 BS_PFE6M2EW T T c.1765T>G p.Ser589Ala p.S589A ENST00000376236 15/15 68 53 7 24 23 0 APBB1IP,missense_variant,p.Ser589Ala,ENST00000376236,NM_019043.3;APBB1IP,downstream_gene_variant,,ENST00000493857,;,regulatory_region_variant,,ENSR00000025803,;,regulatory_region_variant,,ENSR00000025804,; G ENSG00000077420 ENST00000376236 Transcript missense_variant 2220/2771 1765/2001 589/666 S/A Tcg/Gcg 1 1 APBB1IP HGNC HGNC:17379 protein_coding YES CCDS31167.1 ENSP00000365411 Q7Z5R6 UPI00001AF165 NM_019043.3 tolerated_low_confidence(0.96) benign(0) 15/15 hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14,mobidb-lite MODERATE 1 SNV 5 PASS GTC . . 26567252 HNRNPH3 . GRCh38 chr10 68338682 68338682 + Missense_Mutation SNP A A G novel 7316-2667 BS_PFE6M2EW A A c.431A>G p.Asp144Gly p.D144G ENST00000265866 4/10 72 44 28 45 45 0 HNRNPH3,missense_variant,p.Asp144Gly,ENST00000265866,NM_001322449.1,NM_001322437.1,NM_001322452.1,NM_012207.2,NM_001322444.1,NM_001322453.1,NM_001322434.1,NM_001322446.1,NM_001322448.1,NM_001322443.1,NM_001322447.1,NM_001322450.1,NM_001322451.1,NM_001322436.1,NM_001322442.1,NM_001322445.1;HNRNPH3,intron_variant,,ENST00000354695,NM_001322441.1,NM_021644.3,NM_001322439.1,NM_001322440.1,NM_001322438.1;RUFY2,downstream_gene_variant,,ENST00000388768,NM_017987.4,NM_001330103.1;RUFY2,downstream_gene_variant,,ENST00000463210,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000469172,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000481819,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000491200,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000490442,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000461310,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000486854,;HNRNPH3,intron_variant,,ENST00000480987,;HNRNPH3,downstream_gene_variant,,ENST00000467249,;HNRNPH3,upstream_gene_variant,,ENST00000478698,;RUFY2,downstream_gene_variant,,ENST00000484083,;RUFY2,downstream_gene_variant,,ENST00000466187,;RUFY2,downstream_gene_variant,,ENST00000466493,; G ENSG00000096746 ENST00000265866 Transcript missense_variant 596/2339 431/1041 144/346 D/G gAt/gGt 1 1 HNRNPH3 HGNC HGNC:5043 protein_coding YES CCDS7278.1 ENSP00000265866 P31942 A0A024QZK8 UPI0000134539 NM_001322449.1,NM_001322437.1,NM_001322452.1,NM_012207.2,NM_001322444.1,NM_001322453.1,NM_001322434.1,NM_001322446.1,NM_001322448.1,NM_001322443.1,NM_001322447.1,NM_001322450.1,NM_001322451.1,NM_001322436.1,NM_001322442.1,NM_001322445.1 tolerated(1) benign(0) 4/10 Low_complexity_(Seg):seg,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF36 MODERATE 1 SNV 1 PASS GAT . . 68338682 INA . GRCh38 chr10 103288514 103288516 + In_Frame_Del DEL GAG GAG - rs545805667 7316-2667 BS_PFE6M2EW GAG GAG c.1361_1363del p.Glu454del p.E454del ENST00000369849 3/3 72 59 5 47 43 0 INA,inframe_deletion,p.Glu454del,ENST00000369849,NM_032727.3; - ENSG00000148798 ENST00000369849 Transcript inframe_deletion 1394-1396/3231 1345-1347/1500 449/499 E/- GAG/- rs545805667,COSM392287 1 1 INA HGNC HGNC:6057 protein_coding YES CCDS7545.1 ENSP00000358865 Q16352 UPI000012573C NM_032727.3 3/3 hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF132,mobidb-lite,Low_complexity_(Seg):seg 0.0006 0.0008 0.001 0.001 0,1 MODERATE 1 deletion 1 16 0,1 PASS AAGAGG . . 0.000456 6.84e-05 0.0004496 0.0002122 0.0001865 9.401e-05 0.0003246 0.0009694 0.001547 103288513 AHNAK . GRCh38 chr11 62528425 62528425 + Missense_Mutation SNP G G T 7316-2667 BS_PFE6M2EW G G c.5992C>A p.Leu1998Met p.L1998M ENST00000378024 5/5 65 55 6 46 45 0 AHNAK,missense_variant,p.Leu1998Met,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 6267/18787 5992/17673 1998/5890 L/M Ctg/Atg COSM929645,COSM5956711 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 deleterious(0.01) probably_damaging(0.997) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 1,1 MODERATE 1 SNV 2 1,1 PASS AGG . . 62528425 TSGA10IP . GRCh38 chr11 65953652 65953652 + Missense_Mutation SNP C C T rs746151439 7316-2667 BS_PFE6M2EW C C c.1237C>T p.Arg413Trp p.R413W ENST00000532620 5/8 79 47 31 42 42 0 TSGA10IP,missense_variant,p.Arg413Trp,ENST00000532620,NM_152762.2;TSGA10IP,missense_variant,p.Ala367Val,ENST00000608857,;TSGA10IP,missense_variant,p.Ala78Val,ENST00000534740,; T ENSG00000175513 ENST00000532620 Transcript missense_variant 1468/1925 1237/1671 413/556 R/W Cgg/Tgg rs746151439,COSM2166875 1 1 TSGA10IP HGNC HGNC:26555 protein_coding YES CCDS66138.1 ENSP00000484252 Q3SY00 UPI0000EE47ED NM_152762.2 deleterious(0) possibly_damaging(0.736) 5/8 hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF5 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 2.767e-05 6.809e-05 4.007e-05 3.43e-05 65953652 AL589743.1 . GRCh38 chr14 19331482 19331482 + Splice_Region SNP C C T rs140953425 7316-2667 BS_PFE6M2EW C C n.711G>A ENST00000624585 6/8 56 46 10 34 34 0 AL589743.1,splice_region_variant,,ENST00000624585,;AL589743.1,splice_region_variant,,ENST00000612696,;AL589743.1,splice_region_variant,,ENST00000619091,;AL589743.1,splice_region_variant,,ENST00000614614,;AL589743.1,splice_region_variant,,ENST00000616922,;AL589743.1,splice_region_variant,,ENST00000549065,;AL589743.1,splice_region_variant,,ENST00000546959,;AL589743.1,intron_variant,,ENST00000619784,;AL589743.1,downstream_gene_variant,,ENST00000610531,; T ENSG00000244306 ENST00000624585 Transcript splice_region_variant,non_coding_transcript_exon_variant 711/4667 rs140953425 1 -1 AL589743.1 Clone_based_ensembl_gene processed_transcript YES 6/8 LOW 1 SNV 2 PASS CCT . . 19331482 FOXG1 . GRCh38 chr14 28767713 28767713 + Missense_Mutation SNP A A C novel 7316-2667 BS_PFE6M2EW A A c.434A>C p.Lys145Thr p.K145T ENST00000313071 1/1 75 59 10 42 40 0 FOXG1,missense_variant,p.Lys145Thr,ENST00000313071,NM_005249.4;LINC01551,upstream_gene_variant,,ENST00000399387,;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000637351,;FOXG1,downstream_gene_variant,,ENST00000637817,;,regulatory_region_variant,,ENSR00000067057,; C ENSG00000176165 ENST00000313071 Transcript missense_variant 2326/4890 434/1470 145/489 K/T aAg/aCg 1 1 FOXG1 HGNC HGNC:3811 protein_coding YES CCDS9636.1 ENSP00000339004 P55316 UPI00001AE46C NM_005249.4 tolerated_low_confidence(0.25) benign(0.19) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11829:SF316,hmmpanther:PTHR11829 MODERATE SNV 1 PASS AAG . . 28767713 STRN3 . GRCh38 chr14 31026185 31026185 + Translation_Start_Site SNP T T G novel 7316-2667 BS_PFE6M2EW T T c.1A>C p.Met1? p.M1? ENST00000357479 1/18 74 59 11 37 37 0 STRN3,start_lost,p.Met1?,ENST00000355683,NM_014574.3;STRN3,start_lost,p.Met1?,ENST00000357479,NM_001083893.1;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.2;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,start_lost,p.Met1?,ENST00000555358,;,regulatory_region_variant,,ENSR00000067178,; G ENSG00000196792 ENST00000357479 Transcript start_lost 198/2799 1/2394 1/797 M/L Atg/Ctg 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 deleterious_low_confidence(0) benign(0.007) 1/18 hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,mobidb-lite HIGH SNV 5 PASS ATT . . 31026185 NIPA1 . GRCh38 chr15 22786657 22786657 + Translation_Start_Site SNP A A C novel 7316-2667 BS_PFE6M2EW A A c.1A>C p.Met1? p.M1? ENST00000337435 1/5 68 53 13 39 38 1 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; C ENSG00000170113 ENST00000337435 Transcript start_lost 26/6567 1/990 1/329 M/L Atg/Ctg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS AAT . . 22786657 LRRC57 . GRCh38 chr15 42547516 42547516 + Missense_Mutation SNP A A C rs1289757873 7316-2667 BS_PFE6M2EW A A c.237T>G p.Asp79Glu p.D79E ENST00000323443 3/5 67 60 7 51 51 0 LRRC57,missense_variant,p.Asp79Glu,ENST00000323443,;LRRC57,missense_variant,p.Asp79Glu,ENST00000563454,;LRRC57,missense_variant,p.Asp79Glu,ENST00000397130,NM_153260.2;LRRC57,missense_variant,p.Asp79Glu,ENST00000570160,;HAUS2,upstream_gene_variant,,ENST00000260372,NM_001323632.1,NM_001323630.1,NM_018097.2;HAUS2,upstream_gene_variant,,ENST00000562398,;SNAP23,downstream_gene_variant,,ENST00000563830,;SNAP23,downstream_gene_variant,,ENST00000563873,;SNAP23,downstream_gene_variant,,ENST00000568841,;HAUS2,upstream_gene_variant,,ENST00000568846,;HAUS2,upstream_gene_variant,,ENST00000568876,NM_001130447.1,NM_001323631.1;HAUS2,upstream_gene_variant,,ENST00000639412,NM_001323629.1;LRRC57,non_coding_transcript_exon_variant,,ENST00000569830,;HAUS2,upstream_gene_variant,,ENST00000391623,;LRRC57,upstream_gene_variant,,ENST00000562868,;HAUS2,upstream_gene_variant,,ENST00000563479,;HAUS2,upstream_gene_variant,,ENST00000564279,;HAUS2,upstream_gene_variant,,ENST00000567640,;HAUS2,upstream_gene_variant,,ENST00000570178,; C ENSG00000180979 ENST00000323443 Transcript missense_variant 605/7351 237/720 79/239 D/E gaT/gaG rs1289757873 1 -1 LRRC57 HGNC HGNC:26719 protein_coding YES CCDS10089.1 ENSP00000326817 Q8N9N7 A0A024R9M3 UPI000004F8C8 tolerated(1) benign(0) 3/5 Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR44367,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS CAT . . 42547516 NPIPB2 . GRCh38 chr16 11927609 11927609 + Missense_Mutation SNP G G T rs774326444 7316-2667 BS_PFE6M2EW G G c.958C>A p.Leu320Ile p.L320I ENST00000399147 8/8 66 57 9 41 41 0 NPIPB2,missense_variant,p.Leu320Ile,ENST00000399147,;NPIPB2,missense_variant,p.Leu303Ile,ENST00000547494,;NPIPB2,downstream_gene_variant,,ENST00000538896,;NPIPB2,downstream_gene_variant,,ENST00000620285,;NPIPB2,non_coding_transcript_exon_variant,,ENST00000540412,;NPIPB2,downstream_gene_variant,,ENST00000356023,;AC007216.5,downstream_gene_variant,,ENST00000612457,; T ENSG00000234719 ENST00000399147 Transcript missense_variant 958/1194 958/1194 320/397 L/I Ctc/Atc rs774326444 1 -1 NPIPB2 HGNC HGNC:37451 protein_coding YES ENSP00000382101 A6NJ64 A0A0A6YYH2 UPI000204A8FF deleterious_low_confidence(0.02) possibly_damaging(0.711) 8/8 hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF5,mobidb-lite MODERATE 1 SNV 5 PASS AGA . . 11927609 MYL4 . GRCh38 chr17 47209391 47209391 + Splice_Region SNP C C T novel 7316-2667 BS_PFE6M2EW C C c.-32C>T ENST00000354968 2/8 75 44 30 37 37 0 MYL4,splice_region_variant,,ENST00000354968,NM_001002841.1;MYL4,splice_region_variant,,ENST00000572316,;MYL4,splice_region_variant,,ENST00000536623,;MYL4,splice_region_variant,,ENST00000576874,;MYL4,5_prime_UTR_variant,,ENST00000393450,NM_002476.2;MYL4,upstream_gene_variant,,ENST00000572303,;MYL4,splice_region_variant,,ENST00000571981,;MYL4,splice_region_variant,,ENST00000570772,;MYL4,5_prime_UTR_variant,,ENST00000573747,;,regulatory_region_variant,,ENSR00000095152,; T ENSG00000198336 ENST00000354968 Transcript splice_region_variant,5_prime_UTR_variant 97/907 1 1 MYL4 HGNC HGNC:7585 protein_coding YES CCDS11510.1 ENSP00000347055 P12829 UPI000013C60D NM_001002841.1 2/8 LOW 1 SNV 5 1 PASS TCA . . 47209391 CABLES1 . GRCh38 chr18 23135763 23135763 + Translation_Start_Site SNP A A C novel 7316-2667 BS_PFE6M2EW A A c.1A>C p.Met1? p.M1? ENST00000256925 1/10 74 58 10 45 43 0 CABLES1,start_lost,p.Met1?,ENST00000256925,NM_001100619.2;CABLES1,intron_variant,,ENST00000400473,NM_001256438.1;CABLES1,intron_variant,,ENST00000580153,;CABLES1,upstream_gene_variant,,ENST00000582882,;CABLES1,upstream_gene_variant,,ENST00000580644,;CABLES1,upstream_gene_variant,,ENST00000583220,;CABLES1,intron_variant,,ENST00000579963,;CABLES1,upstream_gene_variant,,ENST00000578052,;,regulatory_region_variant,,ENSR00000101375,; C ENSG00000134508 ENST00000256925 Transcript start_lost 1/5002 1/1902 1/633 M/L Atg/Ctg 1 1 CABLES1 HGNC HGNC:25097 protein_coding YES CCDS42417.1 ENSP00000256925 Q8TDN4 A7K6Y5 UPI00004C2CAA NM_001100619.2 deleterious_low_confidence(0) benign(0.007) 1/10 mobidb-lite,PIRSF_domain:PIRSF025798 HIGH 1 SNV 1 PASS AAT . . 23135763 ZNF407 . GRCh38 chr18 74634670 74634670 + Missense_Mutation SNP T T G rs759297601 7316-2667 BS_PFE6M2EW T T c.3651T>G p.His1217Gln p.H1217Q ENST00000299687 1/8 62 55 7 42 41 0 ZNF407,missense_variant,p.His1217Gln,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.His1217Gln,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.His1217Gln,ENST00000582337,;ZNF407,missense_variant,p.His1217Gln,ENST00000309902,NM_001146190.1; G ENSG00000215421 ENST00000299687 Transcript missense_variant 3651/7948 3651/6747 1217/2248 H/Q caT/caG rs759297601 1 1 ZNF407 HGNC HGNC:19904 protein_coding YES CCDS45885.1 ENSP00000299687 Q9C0G0 UPI0000F58ED1 NM_017757.2 tolerated(0.63) benign(0.003) 1/8 Gene3D:2.40.155.10,hmmpanther:PTHR45148 MODERATE 1 SNV 1 PASS ATG . . 4.063e-06 8.959e-06 74634670 SAMD1 . GRCh38 chr19 14090369 14090369 + Missense_Mutation SNP T T G novel 7316-2667 BS_PFE6M2EW T T c.52A>C p.Thr18Pro p.T18P ENST00000533683 1/5 39 25 9 25 25 0 SAMD1,missense_variant,p.Thr18Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 340/2164 52/1299 18/432 T/P Acg/Ccg 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.063) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090369 ZNF99 . GRCh38 chr19 22758870 22758870 + Missense_Mutation SNP C C A novel 7316-2667 BS_PFE6M2EW C C c.1039G>T p.Gly347Cys p.G347C ENST00000596209 4/4 68 38 29 57 57 0 ZNF99,missense_variant,p.Gly347Cys,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Gly256Cys,ENST00000397104,; A ENSG00000213973 ENST00000596209 Transcript missense_variant 1130/7817 1039/2595 347/864 G/C Ggc/Tgc 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 deleterious(0) probably_damaging(1) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS CCA . . 22758870 ZNF99 . GRCh38 chr19 22758882 22758882 + Missense_Mutation SNP A A T novel 7316-2667 BS_PFE6M2EW A A c.1027T>A p.Cys343Ser p.C343S ENST00000596209 4/4 72 41 30 61 60 0 ZNF99,missense_variant,p.Cys343Ser,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Cys252Ser,ENST00000397104,; T ENSG00000213973 ENST00000596209 Transcript missense_variant 1118/7817 1027/2595 343/864 C/S Tgt/Agt 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 deleterious(0) probably_damaging(1) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS CAT . . 22758882 SOX12 . GRCh38 chr20 325959 325959 + Missense_Mutation SNP A A C novel 7316-2667 BS_PFE6M2EW A A c.35A>C p.Asp12Ala p.D12A ENST00000342665 1/1 53 45 8 46 46 0 SOX12,missense_variant,p.Asp12Ala,ENST00000342665,NM_006943.3;NRSN2-AS1,intron_variant,,ENST00000442637,;NRSN2-AS1,upstream_gene_variant,,ENST00000414676,;,regulatory_region_variant,,ENSR00000133399,; C ENSG00000177732 ENST00000342665 Transcript missense_variant 365/4630 35/948 12/315 D/A gAc/gCc 1 1 SOX12 HGNC HGNC:11198 protein_coding YES CCDS12995.1 ENSP00000347646 O15370 UPI0000167B9D NM_006943.3 tolerated(0.06) benign(0.001) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10270:SF221,hmmpanther:PTHR10270,PIRSF_domain:PIRSF038098 MODERATE SNV PASS GAC . . 325959 NCOA6 . GRCh38 chr20 34743164 34743166 + In_Frame_Del DEL TGC TGC - rs769258954 7316-2667 BS_PFE6M2EW TGC TGC c.3090_3092del p.Gln1032del p.Q1032del ENST00000374796 12/16 80 65 6 49 47 0 NCOA6,inframe_deletion,p.Gln1032del,ENST00000374796,NM_001318240.1;NCOA6,inframe_deletion,p.Gln1032del,ENST00000359003,NM_014071.4;NCOA6,intron_variant,,ENST00000612493,NM_001242539.2;NCOA6,intron_variant,,ENST00000616167,;NCOA6,intron_variant,,ENST00000628752,; - ENSG00000198646 ENST00000374796 Transcript inframe_deletion 5661-5663/9311 3090-3092/6192 1030-1031/2063 QQ/Q caGCAa/caa rs769258954,COSM1026083 1 -1 NCOA6 HGNC HGNC:15936 protein_coding YES CCDS13241.1 ENSP00000363929 Q14686 UPI000013C634 NM_001318240.1 12/16 Gene3D:2.130.10.10,hmmpanther:PTHR15690,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 deletion 1 0,1 PASS GTTGCT . . 0.0003509 0.0002 0.000219 0.0007786 0.0005715 0.000404 0.0001939 0.000316 34743163 KRTAP10-5 . GRCh38 chr21 44580098 44580098 + Missense_Mutation SNP T T C rs587775597 7316-2667 BS_PFE6M2EW T T c.481A>G p.Thr161Ala p.T161A ENST00000400372 1/1 83 70 6 34 33 0 KRTAP10-5,missense_variant,p.Thr161Ala,ENST00000400372,NM_198694.3;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000622352,;KRTAP10-4,downstream_gene_variant,,ENST00000400374,NM_198687.2;TSPEAR,intron_variant,,ENST00000642437,;,regulatory_region_variant,,ENSR00000300627,; C ENSG00000241123 ENST00000400372 Transcript missense_variant 507/1150 481/816 161/271 T/A Act/Gct rs587775597,COSM6239288 1 -1 KRTAP10-5 HGNC HGNC:22969 protein_coding YES CCDS42958.1 ENSP00000383223 P60370 UPI00003D4D6F NM_198694.3 tolerated(1) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF93,Pfam_domain:PF13885 0.0018 0.0008 0.003 0.005 0,1 MODERATE SNV 0,1 PASS GTC . . 2.437e-05 2.981e-05 0.000116 2.686e-05 44580098 YME1L1P1 . GRCh38 chr22 15490873 15490873 + Splice_Region SNP A A G novel 7316-2667 BS_PFE6M2EW A A n.144A>G ENST00000429435 2/3 46 39 7 25 25 0 YME1L1P1,splice_region_variant,,ENST00000429435,; G ENSG00000236831 ENST00000429435 Transcript splice_region_variant,non_coding_transcript_exon_variant 144/297 1 1 YME1L1P1 HGNC HGNC:12844 unprocessed_pseudogene YES 2/3 LOW 1 SNV PASS GAT . . 15490873 FAM47A . GRCh38 chrX 34131216 34131216 + Missense_Mutation SNP A A G rs1282791850 7316-2667 BS_PFE6M2EW A A c.1063T>C p.Ser355Pro p.S355P ENST00000346193 1/1 36 28 6 19 19 0 FAM47A,missense_variant,p.Ser355Pro,ENST00000346193,NM_203408.3;FAM47A,missense_variant,p.Ser355Pro,ENST00000613251,; G ENSG00000185448 ENST00000346193 Transcript missense_variant 1096/2556 1063/2376 355/791 S/P Tcc/Ccc rs1282791850 1 -1 FAM47A HGNC HGNC:29962 protein_coding YES CCDS43926.1 ENSP00000345029 Q5JRC9 UPI000013F1F4 NM_203408.3 tolerated(1) benign(0) 1/1 Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200,mobidb-lite MODERATE 1 SNV PASS GAA . . 34131216 RBMXL3 . GRCh38 chrX 115191291 115191291 + Missense_Mutation SNP G G A 7316-2667 BS_PFE6M2EW G G c.1850G>A p.Ser617Asn p.S617N ENST00000424776 1/1 47 36 6 18 18 0 RBMXL3,missense_variant,p.Ser617Asn,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343012,; A ENSG00000175718 ENST00000424776 Transcript missense_variant 1865/3442 1850/3204 617/1067 S/N aGt/aAt COSM6285927 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.08) benign(0.092) 1/1 mobidb-lite 1 MODERATE SNV 1 PASS AGT . . 115191291 VAMP3 . GRCh38 chr1 7778152 7778154 + In_Frame_Del DEL TCA TCA - rs752706951 7316-168 BS_2K76WTCZ TCA TCA c.280_282del p.Ile94del p.I94del ENST00000054666 4/5 56 46 5 44 41 0 VAMP3,inframe_deletion,p.Ile94del,ENST00000054666,NM_004781.3;VAMP3,inframe_deletion,p.Ile66del,ENST00000470357,;Z98884.2,downstream_gene_variant,,ENST00000602406,;VAMP3,non_coding_transcript_exon_variant,,ENST00000487194,; - ENSG00000049245 ENST00000054666 Transcript inframe_deletion 381-383/2205 266-268/303 89-90/100 FI/F tTCAtc/ttc rs752706951,COSM1163683 1 1 VAMP3 HGNC HGNC:12644 protein_coding YES CCDS88.1 ENSP00000054666 Q15836 Q6FGG2 UPI00001380F2 NM_004781.3 4/5 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21136:SF78,hmmpanther:PTHR21136,Gene3D:1.20.5.110,PIRSF_domain:PIRSF005409,Pfam_domain:PF00957,Prints_domain:PR00219 0,1 MODERATE 1 deletion 1 14 0,1 PASS CTTCAT . . 2.847e-05 2.689e-05 0.0001301 7778151 NBL1 . GRCh38 chr1 19657047 19657047 + Missense_Mutation SNP A A C rs773693467 7316-168 BS_2K76WTCZ A A c.569A>C p.His190Pro p.H190P ENST00000289749 4/4 61 45 9 32 28 1 NBL1,missense_variant,p.His155Pro,ENST00000375136,NM_005380.7;NBL1,missense_variant,p.His189Pro,ENST00000615215,NM_001204086.2,NM_001278164.1;NBL1,missense_variant,p.His155Pro,ENST00000621723,NM_001204084.2;NBL1,missense_variant,p.His155Pro,ENST00000622566,NM_001278165.1;NBL1,missense_variant,p.His155Pro,ENST00000618761,NM_001204085.1;NBL1,missense_variant,p.His155Pro,ENST00000548815,NM_001278166.1;NBL1,missense_variant,p.His155Pro,ENST00000602662,NM_001204089.1,NM_001204088.1;NBL1,missense_variant,p.His190Pro,ENST00000289749,NM_182744.3;NBL1,missense_variant,p.His154Pro,ENST00000427894,;NBL1,downstream_gene_variant,,ENST00000425400,;NBL1,downstream_gene_variant,,ENST00000428975,;NBL1,downstream_gene_variant,,ENST00000439278,;NBL1,downstream_gene_variant,,ENST00000439664,;NBL1,downstream_gene_variant,,ENST00000451758,;MINOS1-NBL1,downstream_gene_variant,,ENST00000602293,;MINOS1-NBL1,downstream_gene_variant,,ENST00000602384,;MINOS1-NBL1,downstream_gene_variant,,ENST00000602450,; C ENSG00000158747 ENST00000289749 Transcript missense_variant 649/731 569/651 190/216 H/P cAc/cCc rs773693467,COSM4388039,COSM4388038 1 1 NBL1 HGNC HGNC:7650 protein_coding YES CCDS41278.1 ENSP00000289749 P41271 UPI000020459F NM_182744.3 tolerated_low_confidence(0.15) possibly_damaging(0.629) 4/4 PIRSF_domain:PIRSF018557,hmmpanther:PTHR15283,hmmpanther:PTHR15283:SF5,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CAC . . 0.0001375 0.00015 0.000243 0.0002499 6.852e-05 0.0001619 4.832e-05 19657047 TSTD1 . GRCh38 chr1 161037943 161037943 + Missense_Mutation SNP G G C novel 7316-168 BS_2K76WTCZ G G c.266C>G p.Thr89Arg p.T89R ENST00000423014 3/4 46 31 15 28 28 0 TSTD1,missense_variant,p.Thr89Arg,ENST00000318289,NM_001113205.1;TSTD1,missense_variant,p.Thr89Arg,ENST00000423014,NM_001113207.1;TSTD1,missense_variant,p.Thr96Arg,ENST00000368023,;TSTD1,missense_variant,p.Thr36Arg,ENST00000466967,;TSTD1,missense_variant,p.Thr48Arg,ENST00000368024,NM_001113206.1;USF1,downstream_gene_variant,,ENST00000368019,;USF1,downstream_gene_variant,,ENST00000368020,NM_001276373.1;USF1,downstream_gene_variant,,ENST00000368021,NM_007122.4;USF1,downstream_gene_variant,,ENST00000528768,NM_207005.2;USF1,downstream_gene_variant,,ENST00000531842,;USF1,downstream_gene_variant,,ENST00000534633,;TSTD1,non_coding_transcript_exon_variant,,ENST00000486084,;TSTD1,non_coding_transcript_exon_variant,,ENST00000462952,;AL591806.3,intron_variant,,ENST00000289779,;AL591806.3,intron_variant,,ENST00000470694,;USF1,downstream_gene_variant,,ENST00000472217,;USF1,downstream_gene_variant,,ENST00000473969,;USF1,downstream_gene_variant,,ENST00000491629,;USF1,downstream_gene_variant,,ENST00000496363,;USF1,downstream_gene_variant,,ENST00000529476,;AL591806.2,downstream_gene_variant,,ENST00000433122,; C ENSG00000215845 ENST00000423014 Transcript missense_variant 367/593 266/348 89/115 T/R aCg/aGg 1 -1 TSTD1 HGNC HGNC:35410 protein_coding YES CCDS53400.1 ENSP00000388293 Q8NFU3 UPI000007148A NM_001113207.1 deleterious(0.01) possibly_damaging(0.638) 3/4 Gene3D:3.40.250.10,Pfam_domain:PF00581,PROSITE_profiles:PS50206,hmmpanther:PTHR45544,SMART_domains:SM00450,Superfamily_domains:SSF52821,cd01519 MODERATE SNV 2 PASS CGT . . 161037943 AC008278.1 . GRCh38 chr2 15680265 15680265 + Splice_Region SNP C C T rs953490963 7316-168 BS_2K76WTCZ C C n.214+6G>A ENST00000431117 70 51 15 26 25 0 AC008278.1,splice_region_variant,,ENST00000431117,;,regulatory_region_variant,,ENSR00000289876,; T ENSG00000224194 ENST00000431117 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs953490963 1 -1 AC008278.1 Clone_based_ensembl_gene antisense YES 1/2 LOW 1 SNV 4 PASS TCC . . 15680265 HJURP . GRCh38 chr2 233837658 233837658 + Splice_Region DEL A A - rs769211897 7316-168 BS_2K76WTCZ A A c.2172-6del ENST00000411486 50 39 5 47 45 0 HJURP,splice_region_variant,,ENST00000411486,NM_018410.4;HJURP,splice_region_variant,,ENST00000432087,NM_001282962.1;HJURP,splice_region_variant,,ENST00000441687,NM_001282963.1;MROH2A,downstream_gene_variant,,ENST00000389758,;HJURP,downstream_gene_variant,,ENST00000414924,;HJURP,downstream_gene_variant,,ENST00000454020,;MROH2A,downstream_gene_variant,,ENST00000610772,NM_001287395.1;HJURP,downstream_gene_variant,,ENST00000434039,;HJURP,splice_region_variant,,ENST00000433484,;HJURP,downstream_gene_variant,,ENST00000453122,;MROH2A,downstream_gene_variant,,ENST00000487979,; - ENSG00000123485 ENST00000411486 Transcript splice_region_variant,intron_variant rs769211897,TMP_ESP_2_234746304_234746304,COSM1180903 1 -1 HJURP HGNC HGNC:25444 protein_coding YES CCDS33406.1 ENSP00000414109 Q8NCD3 UPI000013CB29 NM_018410.4 8/8 0.02767 0.02898 0,0,1 LOW 1 deletion 1 0,0,1 PASS GGAA . . 0.006354 0.00436 0.01229 0.006643 0.007088 0.01176 0.004425 0.007189 0.005104 233837657 HLA-DRB1 . GRCh38 chr6 32584252 32584252 + Missense_Mutation SNP A A T rs17884945 7316-168 BS_2K76WTCZ A A c.227T>A p.Phe76Tyr p.F76Y ENST00000360004 2/6 62 46 15 31 29 1 HLA-DRB1,missense_variant,p.Phe76Tyr,ENST00000360004,NM_002124.3;,regulatory_region_variant,,ENSR00000195690,; T ENSG00000196126 ENST00000360004 Transcript missense_variant 333/1229 227/801 76/266 F/Y tTc/tAc rs17884945,CM033913,COSM451269 1 -1 HLA-DRB1 HGNC HGNC:4948 protein_coding YES CCDS47409.1 ENSP00000353099 Q29974,P01911,Q9GIY3,P04229 X5DNQ0,D7RIH8 UPI000008A1F7 NM_002124.3 tolerated(0.87) benign(0) 2/6 PDB-ENSP_mappings:1bx2.B,PDB-ENSP_mappings:1bx2.E,PDB-ENSP_mappings:1ymm.B,PDB-ENSP_mappings:2wbj.B,PDB-ENSP_mappings:2wbj.F,PDB-ENSP_mappings:5v4m.C,PDB-ENSP_mappings:5v4m.F,PDB-ENSP_mappings:5v4m.I,PDB-ENSP_mappings:5v4m.L,Gene3D:3.10.320.10,Pfam_domain:PF00969,SMART_domains:SM00921,Superfamily_domains:SSF54452,hmmpanther:PTHR19944:SF84,hmmpanther:PTHR19944,blastprodom:PD000328 0.4393 0.4433 0.5115 0.4802 0.4453 0.3344 0.3769 0.387 0,0,1 MODERATE 1 SNV 0,1,1 1 PASS GAA . . 0.316 0.2553 0.4994 0.3134 0.3666 0.3531 0.2982 0.3256 0.1769 32584252 POLR2J3 . GRCh38 chr7 102569873 102569873 + Missense_Mutation SNP G G C rs2522917 7316-168 BS_2K76WTCZ G G c.102C>G p.Ile34Met p.I34M ENST00000621093 2/4 114 82 31 59 56 2 POLR2J3,missense_variant,p.Ile34Met,ENST00000511313,;POLR2J3,missense_variant,p.Ile34Met,ENST00000613744,;POLR2J3,missense_variant,p.Ile34Met,ENST00000513506,;AC093668.1,missense_variant,p.Ile129Met,ENST00000514917,;POLR2J3,missense_variant,p.Ile34Met,ENST00000513438,;POLR2J3,missense_variant,p.Ile34Met,ENST00000621093,NM_001097615.2;RASA4,downstream_gene_variant,,ENST00000538869,;POLR2J3,non_coding_transcript_exon_variant,,ENST00000504157,;POLR2J3,non_coding_transcript_exon_variant,,ENST00000443430,;POLR2J3,non_coding_transcript_exon_variant,,ENST00000506060,;POLR2J3,non_coding_transcript_exon_variant,,ENST00000502415,;POLR2J3,non_coding_transcript_exon_variant,,ENST00000508910,;POLR2J3,upstream_gene_variant,,ENST00000503564,;POLR2J3,upstream_gene_variant,,ENST00000504677,;POLR2J3,upstream_gene_variant,,ENST00000511773,;POLR2J3,missense_variant,p.Ile34Met,ENST00000489144,;POLR2J3,missense_variant,p.Ile34Met,ENST00000379340,;POLR2J3,missense_variant,p.Ile34Met,ENST00000486319,;POLR2J3,missense_variant,p.Ile34Met,ENST00000508848,;POLR2J3,missense_variant,p.Ile34Met,ENST00000608621,;POLR2J3,missense_variant,p.Ile34Met,ENST00000507355,;POLR2J3,non_coding_transcript_exon_variant,,ENST00000504101,;POLR2J3,intron_variant,,ENST00000464525,; C ENSG00000285437 ENST00000621093 Transcript missense_variant 102/348 102/348 34/115 I/M atC/atG rs2522917 1 -1 POLR2J3 HGNC HGNC:33853 protein_coding YES CCDS47673.1 ENSP00000483328 A0A0B4J2F8 UPI0000073F8E NM_001097615.2 deleterious(0.03) benign(0.243) 2/4 cd06926,hmmpanther:PTHR13946:SF16,hmmpanther:PTHR13946,PROSITE_patterns:PS01154,Gene3D:3.30.1360.10,Pfam_domain:PF13656,Superfamily_domains:SSF55257 MODERATE 1 SNV 1 PASS TGA . . 0.3906 0.2754 0.434 0.4083 0.2596 0.3756 0.4445 0.418 0.3405 102569873 ATAD2 . GRCh38 chr8 123344921 123344921 + Missense_Mutation SNP G G T novel 7316-168 BS_2K76WTCZ G G c.2681C>A p.Ala894Glu p.A894E ENST00000287394 19/28 51 44 5 34 34 0 ATAD2,missense_variant,p.Ala894Glu,ENST00000287394,NM_014109.3;ATAD2,missense_variant,p.Ala212Glu,ENST00000521903,;MIR548AA1,upstream_gene_variant,,ENST00000384971,;RNU6-875P,downstream_gene_variant,,ENST00000516488,;MIR548D1,downstream_gene_variant,,ENST00000636914,;ATAD2,3_prime_UTR_variant,,ENST00000517666,;ATAD2,3_prime_UTR_variant,,ENST00000519124,;ATAD2,non_coding_transcript_exon_variant,,ENST00000521496,; T ENSG00000156802 ENST00000287394 Transcript missense_variant 2789/5565 2681/4173 894/1390 A/E gCa/gAa 1 -1 ATAD2 HGNC HGNC:30123 protein_coding YES CCDS6343.1 ENSP00000287394 Q6PL18 A0A024R9G7 UPI0000052A8C NM_014109.3 deleterious(0) probably_damaging(0.969) 19/28 Gene3D:3.40.50.300,hmmpanther:PTHR23069,hmmpanther:PTHR23069:SF4,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS TGC . . 123344921 OR10A6 . GRCh38 chr11 7928491 7928491 + Missense_Mutation SNP G G A novel 7316-168 BS_2K76WTCZ G G c.172C>T p.Pro58Ser p.P58S ENST00000642108 4/4 75 54 19 49 49 0 OR10A6,missense_variant,p.Pro58Ser,ENST00000642108,;OR10A6,missense_variant,p.Pro58Ser,ENST00000641238,;OR10A6,missense_variant,p.Pro58Ser,ENST00000623991,NM_001004461.1; A ENSG00000279000 ENST00000642108 Transcript missense_variant 2205/6104 172/945 58/314 P/S Ccc/Tcc 1 -1 OR10A6 HGNC HGNC:15132 protein_coding YES ENSP00000492919 Q8NH74 A0A126GVN8 UPI0000041DF4 deleterious(0.01) probably_damaging(0.998) 4/4 PROSITE_profiles:PS50262,cd15225,hmmpanther:PTHR26453:SF30,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS GGA . . 7928491 TAS2R46 . GRCh38 chr12 11061873 11061873 + Missense_Mutation SNP A A G rs200936852 7316-168 BS_2K76WTCZ A A c.422T>C p.Val141Ala p.V141A ENST00000533467 1/1 79 54 24 48 45 2 TAS2R46,missense_variant,p.Val141Ala,ENST00000533467,NM_176887.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; G ENSG00000226761 ENST00000533467 Transcript missense_variant 422/930 422/930 141/309 V/A gTt/gCt rs200936852,COSM3931512 1 -1 TAS2R46 HGNC HGNC:18877 protein_coding YES CCDS53748.1 ENSP00000436450 P59540 UPI000000D821 NM_176887.2 tolerated(0.16) benign(0.012) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF66,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15027,Low_complexity_(Seg):seg 0,1 MODERATE SNV 0,1 PASS AAC . . 0.02157 0.002037 0.01745 0.03839 0.0141 0.0258 0.02276 0.02836 0.03431 11061873 TMED10 . GRCh38 chr14 75135008 75135009 + Splice_Region INS - - A rs200389497 7316-168 BS_2K76WTCZ - - c.539-3dup ENST00000303575 60 51 5 50 45 0 TMED10,splice_region_variant,,ENST00000303575,NM_006827.5;AL049780.2,intron_variant,,ENST00000556236,;TMED10,splice_region_variant,,ENST00000557670,;TMED10,splice_region_variant,,ENST00000555036,;TMED10,splice_region_variant,,ENST00000555873,;TMED10,splice_region_variant,,ENST00000556969,; A ENSG00000170348 ENST00000303575 Transcript splice_region_variant,intron_variant rs200389497,TMP_ESP_14_75601712_75601712 1 -1 TMED10 HGNC HGNC:16998 protein_coding YES CCDS9840.1 ENSP00000303145 P49755 A0A024R6I3 UPI0000137068 NM_006827.5 4/4 0.0197 0.002665 LOW 1 insertion 1 PASS CTA . . 0.002096 0.02178 0.002072 0.0006052 0.0003219 0.001198 0.0003721 0.001053 0.000663 75135008 MYH10 . GRCh38 chr17 8493777 8493779 + In_Frame_Del DEL CCT CCT - rs146612839 7316-168 BS_2K76WTCZ CCT CCT c.4163_4165del p.Glu1388del p.E1388del ENST00000360416 32/43 53 40 5 35 33 0 MYH10,inframe_deletion,p.Glu1388del,ENST00000360416,NM_001256012.1;MYH10,inframe_deletion,p.Glu1366del,ENST00000379980,NM_001256095.1;MYH10,inframe_deletion,p.Glu1357del,ENST00000269243,NM_005964.3;NDEL1,downstream_gene_variant,,ENST00000581679,;MYH10,non_coding_transcript_exon_variant,,ENST00000488329,; - ENSG00000133026 ENST00000360416 Transcript inframe_deletion 4302-4304/7762 4163-4165/6024 1388-1389/2007 EA/A gAGGcc/gcc rs146612839,COSM5154381,COSM1387665 1 -1 MYH10 HGNC HGNC:7568 protein_coding YES CCDS58515.1 ENSP00000353590 P35580 UPI0000E24926 NM_001256012.1 32/43 Gene3D:1.20.5.340,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF328,Superfamily_domains:SSF90257,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 deletion 1 0,1,1 1 PASS GGCCTC . . 0.0002888 0.0004144 0.0003843 0.0006526 0.0004433 0.0001898 0.0002067 0.0003481 8493776 MBD3 . GRCh38 chr19 1578373 1578375 + In_Frame_Del DEL CTC CTC - rs371220154 7316-168 BS_2K76WTCZ CTC CTC c.841_843del p.Glu281del p.E281del ENST00000434436 6/7 68 59 5 33 32 0 MBD3,inframe_deletion,p.Glu249del,ENST00000156825,NM_001281454.1;MBD3,inframe_deletion,p.Glu225del,ENST00000590550,;MBD3,inframe_deletion,p.Glu281del,ENST00000434436,NM_001281453.1;MBD3,downstream_gene_variant,,ENST00000585967,;MBD3,downstream_gene_variant,,ENST00000592361,;MBD3,non_coding_transcript_exon_variant,,ENST00000589064,;AC005943.2,downstream_gene_variant,,ENST00000624421,;MBD3,3_prime_UTR_variant,,ENST00000592012,;AC005943.1,3_prime_UTR_variant,,ENST00000585937,;MBD3,non_coding_transcript_exon_variant,,ENST00000590830,;MBD3,downstream_gene_variant,,ENST00000585903,;MBD3,downstream_gene_variant,,ENST00000589901,; - ENSG00000071655 ENST00000434436 Transcript inframe_deletion 918-920/2439 841-843/876 281/291 E/- GAG/- rs371220154,TMP_ESP_19_1578372_1578374 1 -1 MBD3 HGNC HGNC:6918 protein_coding YES CCDS12072.1 ENSP00000412302 O95983 UPI000003166B NM_001281453.1 6/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF12 0.04171 0.03022 MODERATE 1 deletion 1 PASS GGCTCC . . 0.0036 0.01821 0.001838 0.0009165 0.002352 0.005716 0.002519 0.001715 0.002791 1578372 MATK . GRCh38 chr19 3784169 3784169 + Missense_Mutation SNP C C T rs140685090 7316-168 BS_2K76WTCZ C C c.320G>A p.Arg107Gln p.R107Q ENST00000395045 5/14 66 58 5 38 38 0 MATK,missense_variant,p.Arg106Gln,ENST00000310132,NM_139355.2;MATK,missense_variant,p.Arg107Gln,ENST00000395045,NM_002378.3;MATK,missense_variant,p.Arg106Gln,ENST00000585778,;MATK,missense_variant,p.Arg65Gln,ENST00000395040,NM_139354.2;MATK,missense_variant,p.Arg107Gln,ENST00000619596,;MATK,missense_variant,p.Arg106Gln,ENST00000590028,;MATK,missense_variant,p.Arg65Gln,ENST00000590849,;MATK,5_prime_UTR_variant,,ENST00000587180,;MATK,upstream_gene_variant,,ENST00000588983,;MATK,upstream_gene_variant,,ENST00000590493,;MATK,downstream_gene_variant,,ENST00000590980,;MATK,downstream_gene_variant,,ENST00000591059,;MATK,downstream_gene_variant,,ENST00000590821,; T ENSG00000007264 ENST00000395045 Transcript missense_variant 658/2073 320/1527 107/508 R/Q cGg/cAg rs140685090 1 -1 MATK HGNC HGNC:6906 protein_coding YES CCDS12113.1 ENSP00000378485 P42679 UPI000013FB32 NM_002378.3 tolerated(0.44) possibly_damaging(0.895) 5/14 Low_complexity_(Seg):seg,cd11811,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,PROSITE_profiles:PS50002,hmmpanther:PTHR24418:SF162,hmmpanther:PTHR24418 MODERATE 1 SNV 2 PASS CCG . . 3.275e-05 6.583e-05 5.44e-05 3.254e-05 3784169 LILRB3 . GRCh38 chr19 54221229 54221229 + Missense_Mutation SNP T T C rs1344882806 7316-168 BS_2K76WTCZ T T c.809A>G p.Gln270Arg p.Q270R ENST00000245620 5/13 47 38 9 36 35 0 LILRB3,missense_variant,p.Gln270Arg,ENST00000391750,NM_001320960.1,NM_006864.3;LILRB3,missense_variant,p.Gln270Arg,ENST00000346401,;LILRB3,missense_variant,p.Gln270Arg,ENST00000245620,NM_001081450.2;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,;,regulatory_region_variant,,ENSR00000111471,; C ENSG00000204577 ENST00000245620 Transcript missense_variant 811/2066 809/1899 270/632 Q/R cAg/cGg rs1344882806 1 -1 LILRB3 HGNC HGNC:6607 protein_coding YES CCDS46175.1 ENSP00000245620 O75022 UPI00034F2393 NM_001081450.2 tolerated(1) benign(0) 5/13 Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CTG . . 54221229 LILRB3 . GRCh38 chr19 54221256 54221256 + Missense_Mutation SNP T T C rs1292929626 7316-168 BS_2K76WTCZ T T c.782A>G p.Glu261Gly p.E261G ENST00000245620 5/13 50 40 10 39 39 0 LILRB3,missense_variant,p.Glu261Gly,ENST00000391750,NM_001320960.1,NM_006864.3;LILRB3,missense_variant,p.Glu261Gly,ENST00000346401,;LILRB3,missense_variant,p.Glu261Gly,ENST00000245620,NM_001081450.2;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,;,regulatory_region_variant,,ENSR00000111471,; C ENSG00000204577 ENST00000245620 Transcript missense_variant 784/2066 782/1899 261/632 E/G gAa/gGa rs1292929626 1 -1 LILRB3 HGNC HGNC:6607 protein_coding YES CCDS46175.1 ENSP00000245620 O75022 UPI00034F2393 NM_001081450.2 tolerated(1) benign(0) 5/13 Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS TTC . . 54221256 LILRB3 . GRCh38 chr19 54221260 54221260 + Missense_Mutation SNP C C A rs1362035211 7316-168 BS_2K76WTCZ C C c.778G>T p.Gly260Trp p.G260W ENST00000245620 5/13 51 42 9 41 41 0 LILRB3,missense_variant,p.Gly260Trp,ENST00000391750,NM_001320960.1,NM_006864.3;LILRB3,missense_variant,p.Gly260Trp,ENST00000346401,;LILRB3,missense_variant,p.Gly260Trp,ENST00000245620,NM_001081450.2;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,;,regulatory_region_variant,,ENSR00000111471,; A ENSG00000204577 ENST00000245620 Transcript missense_variant 780/2066 778/1899 260/632 G/W Ggg/Tgg rs1362035211 1 -1 LILRB3 HGNC HGNC:6607 protein_coding YES CCDS46175.1 ENSP00000245620 O75022 UPI00034F2393 NM_001081450.2 tolerated(0.07) benign(0.092) 5/13 Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CCC . . 54221260 FRG1EP . GRCh38 chr20 29482553 29482553 + Splice_Region SNP T T A rs1418717426 7316-168 BS_2K76WTCZ T T n.532-8A>T ENST00000634469 87 65 20 41 39 1 FRG1EP,splice_region_variant,,ENST00000634469,; A ENSG00000282995 ENST00000634469 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1418717426 1 -1 FRG1EP HGNC HGNC:51764 unprocessed_pseudogene YES 6/8 LOW 1 SNV PASS ATT . . 29482553 MAMLD1 . GRCh38 chrX 150471053 150471055 + In_Frame_Del DEL CAG CAG - rs1450953853 7316-168 BS_2K76WTCZ CAG CAG c.1428_1430del p.Gln477del p.Q477del ENST00000432680 3/5 32 20 5 19 16 0 MAMLD1,inframe_deletion,p.Gln502del,ENST00000370401,;MAMLD1,inframe_deletion,p.Gln502del,ENST00000262858,NM_005491.4;MAMLD1,inframe_deletion,p.Gln477del,ENST00000426613,NM_001177466.2;MAMLD1,inframe_deletion,p.Gln477del,ENST00000432680,NM_001177465.2;MAMLD1,downstream_gene_variant,,ENST00000358892,;MAMLD1,downstream_gene_variant,,ENST00000468306,; - ENSG00000013619 ENST00000432680 Transcript inframe_deletion 1580-1582/3224 1405-1407/2997 469/998 Q/- CAG/- rs1450953853,COSM1490596,COSM1116766,COSM1116765 1 1 MAMLD1 HGNC HGNC:2568 protein_coding YES CCDS55526.1 ENSP00000414517 Q13495 UPI00017A6EBC NM_001177465.2 3/5 Low_complexity_(Seg):seg,hmmpanther:PTHR15275 0,1,1,1 MODERATE 1 deletion 2 23 0,1,1,1 1 PASS AACAGC . . 0.0004018 0.0011 0.0001169 0.0004022 0.0005424 0.001284 0.0001091 150471052 NBPF3 . GRCh38 chr1 21480128 21480128 + Missense_Mutation SNP T T G rs3820293 7316-2900 BS_CP2JB80M T T c.1286T>G p.Phe429Cys p.F429C ENST00000318249 11/15 35 30 5 24 23 0 NBPF3,missense_variant,p.Phe417Cys,ENST00000342104,NM_001256416.2;NBPF3,missense_variant,p.Phe429Cys,ENST00000318249,NM_032264.4;NBPF3,missense_variant,p.Phe359Cys,ENST00000454000,NM_001256417.2;NBPF3,missense_variant,p.Phe373Cys,ENST00000619554,;NBPF3,non_coding_transcript_exon_variant,,ENST00000469876,;NBPF3,non_coding_transcript_exon_variant,,ENST00000477050,;NBPF3,3_prime_UTR_variant,,ENST00000318220,;NBPF3,3_prime_UTR_variant,,ENST00000434838,; G ENSG00000142794 ENST00000318249 Transcript missense_variant 1461/3591 1286/1902 429/633 F/C tTt/tGt rs3820293,COSM4143336,COSM4143335 1 1 NBPF3 HGNC HGNC:25076 protein_coding YES CCDS216.1 ENSP00000316782 Q9H094 UPI0000037D6C NM_032264.4 tolerated(0.08) possibly_damaging(0.477) 11/15 PROSITE_profiles:PS51316,hmmpanther:PTHR14199:SF18,hmmpanther:PTHR14199,Pfam_domain:PF06758,SMART_domains:SM01148 0.1951 0.0197 0.2392 0.3006 0.2704 0.2147 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TTT . . 0.06419 0.00919 0.1378 0.05162 0.1632 0.008052 0.05071 0.1075 0.05843 21480128 F5 . GRCh38 chr1 169541365 169541365 + Missense_Mutation SNP G G A novel 7316-2900 BS_CP2JB80M G G c.3725C>T p.Pro1242Leu p.P1242L ENST00000367797 13/25 69 54 7 37 35 1 F5,missense_variant,p.Pro1247Leu,ENST00000367796,;F5,missense_variant,p.Pro1242Leu,ENST00000367797,NM_000130.4; A ENSG00000198734 ENST00000367797 Transcript missense_variant 3927/7024 3725/6675 1242/2224 P/L cCa/cTa 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 deleterious_low_confidence(0.02) benign(0.012) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS TGG . . 169541365 CPSF3 . GRCh38 chr2 9467702 9467702 + Splice_Region SNP C C A novel 7316-2900 BS_CP2JB80M C C c.1787-5C>A ENST00000238112 55 45 8 47 45 0 CPSF3,splice_region_variant,,ENST00000238112,NM_016207.3,NM_001321836.1;CPSF3,splice_region_variant,,ENST00000460593,NM_001321834.1,NM_001321833.1,NM_001321835.1;CPSF3,splice_region_variant,,ENST00000489403,; A ENSG00000119203 ENST00000238112 Transcript splice_region_variant,intron_variant 1 1 CPSF3 HGNC HGNC:2326 protein_coding YES CCDS1664.1 ENSP00000238112 Q9UKF6 UPI00001282F5 NM_016207.3,NM_001321836.1 15/17 LOW 1 SNV 1 PASS TCC . . 9467702 MUCL3 . GRCh38 chr6 30949757 30949757 + Missense_Mutation SNP C C A novel 7316-2900 BS_CP2JB80M C C c.1293C>A p.Asn431Lys p.N431K ENST00000462446 2/3 46 32 5 39 38 0 MUCL3,missense_variant,p.Asn498Lys,ENST00000636043,;MUCL3,missense_variant,p.Asn431Lys,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 1321/5314 1293/4182 431/1393 N/K aaC/aaA 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.6) benign(0.075) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS ACG . . 30949757 MYB . GRCh38 chr6 135181540 135181540 + Splice_Region SNP A A C novel 7316-2900 BS_CP2JB80M A A c.23+4A>C ENST00000341911 74 65 9 31 31 0 MYB,splice_region_variant,,ENST00000316528,;MYB,splice_region_variant,,ENST00000341911,NM_001130173.1;MYB,splice_region_variant,,ENST00000367814,NM_005375.3;MYB,splice_region_variant,,ENST00000420123,;MYB,splice_region_variant,,ENST00000442647,NM_001130172.1;MYB,splice_region_variant,,ENST00000525369,NM_001161657.1;MYB,splice_region_variant,,ENST00000527615,;MYB,splice_region_variant,,ENST00000528774,NM_001161656.1;MYB,splice_region_variant,,ENST00000533624,NM_001161660.1;MYB,splice_region_variant,,ENST00000534044,NM_001161659.1;MYB,splice_region_variant,,ENST00000534121,NM_001161658.1;MYB,splice_region_variant,,ENST00000616088,;MYB,splice_region_variant,,ENST00000618728,;MYB,upstream_gene_variant,,ENST00000430686,;MYB,upstream_gene_variant,,ENST00000531845,;MYB,splice_region_variant,,ENST00000339290,;MYB,splice_region_variant,,ENST00000367812,;MYB,splice_region_variant,,ENST00000438901,;MYB,splice_region_variant,,ENST00000463282,;MYB,splice_region_variant,,ENST00000524588,;MYB,splice_region_variant,,ENST00000525002,;MYB,splice_region_variant,,ENST00000525477,;MYB,splice_region_variant,,ENST00000525514,;MYB,splice_region_variant,,ENST00000525940,;MYB,splice_region_variant,,ENST00000526187,;MYB,splice_region_variant,,ENST00000526320,;MYB,splice_region_variant,,ENST00000526565,;MYB,splice_region_variant,,ENST00000526889,;MYB,splice_region_variant,,ENST00000528015,;MYB,splice_region_variant,,ENST00000528140,;MYB,splice_region_variant,,ENST00000528343,;MYB,splice_region_variant,,ENST00000528345,;MYB,splice_region_variant,,ENST00000529262,;MYB,splice_region_variant,,ENST00000529586,;MYB,splice_region_variant,,ENST00000531519,;MYB,splice_region_variant,,ENST00000531634,;MYB,splice_region_variant,,ENST00000531737,;MYB,splice_region_variant,,ENST00000533384,;MYB,splice_region_variant,,ENST00000533808,;MYB,splice_region_variant,,ENST00000533837,;,regulatory_region_variant,,ENSR00000203343,; C ENSG00000118513 ENST00000341911 Transcript splice_region_variant,intron_variant 1 1 MYB HGNC HGNC:7545 protein_coding YES CCDS47481.1 ENSP00000339992 P10242 UPI000002AE9A NM_001130173.1 1/15 LOW 1 SNV 1 1 PASS AAC . . 135181540 ZAN . GRCh38 chr7 100752473 100752473 + Missense_Mutation SNP C C T rs199814972 7316-2900 BS_CP2JB80M C C c.2368C>T p.Pro790Ser p.P790S ENST00000613979 14/48 62 49 7 30 28 0 ZAN,missense_variant,p.Pro790Ser,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Pro790Ser,ENST00000618565,;ZAN,missense_variant,p.Pro790Ser,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Pro790Ser,ENST00000546292,;ZAN,missense_variant,p.Pro790Ser,ENST00000542585,;ZAN,missense_variant,p.Pro790Ser,ENST00000538115,;ZAN,missense_variant,p.Pro790Ser,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,; T ENSG00000146839 ENST00000613979 Transcript missense_variant 2533/8669 2368/8439 790/2812 P/S Ccc/Tcc rs199814972,COSM3630938 1 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 A0A087WU49 UPI000441C79E NM_003386.2 tolerated(0.1) benign(0.268) 14/48 Low_complexity_(Seg):seg,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 100752473 MUC17 . GRCh38 chr7 101033028 101033028 + Missense_Mutation SNP A A T rs1458829096 7316-2900 BS_CP2JB80M A A c.1612A>T p.Thr538Ser p.T538S ENST00000306151 3/13 78 67 11 35 34 1 MUC17,missense_variant,p.Thr538Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr538Ser,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 1676/14247 1612/13482 538/4493 T/S Acc/Tcc rs1458829096 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.23) benign(0.009) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 101033028 MUC17 . GRCh38 chr7 101039727 101039727 + Missense_Mutation SNP G G C rs553466928 7316-2900 BS_CP2JB80M G G c.8311G>C p.Val2771Leu p.V2771L ENST00000306151 3/13 74 67 6 42 41 0 MUC17,missense_variant,p.Val2771Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Val2771Leu,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 8375/14247 8311/13482 2771/4493 V/L Gtt/Ctt rs553466928,COSM5764034 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.103) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 0.0002125 0.0003856 0.0004193 0.0001493 0.0001555 0.0006316 0.0003273 101039727 ZNF696 . GRCh38 chr8 143296616 143296616 + Missense_Mutation SNP T T C rs1274681929 7316-2900 BS_CP2JB80M T T c.941T>C p.Ile314Thr p.I314T ENST00000330143 3/3 91 81 6 46 43 0 ZNF696,missense_variant,p.Ile314Thr,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; C ENSG00000185730 ENST00000330143 Transcript missense_variant 1350/2795 941/1125 314/374 I/T aTc/aCc rs1274681929 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 tolerated(0.07) possibly_damaging(0.679) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATC . . 143296616 PNPLA7 . GRCh38 chr9 137479088 137479088 + Missense_Mutation SNP G G A rs200791872 7316-2900 BS_CP2JB80M G G c.2731C>T p.Arg911Cys p.R911C ENST00000406427 24/35 81 59 22 26 25 0 PNPLA7,missense_variant,p.Arg911Cys,ENST00000406427,NM_001098537.2;PNPLA7,missense_variant,p.Arg886Cys,ENST00000277531,NM_152286.4;PNPLA7,non_coding_transcript_exon_variant,,ENST00000492278,;PNPLA7,non_coding_transcript_exon_variant,,ENST00000469998,;,regulatory_region_variant,,ENSR00000243208,; A ENSG00000130653 ENST00000406427 Transcript missense_variant 3068/4806 2731/4029 911/1342 R/C Cgc/Tgc rs200791872,COSM1221393 1 -1 PNPLA7 HGNC HGNC:24768 protein_coding YES CCDS48070.1 ENSP00000384610 Q6ZV29 UPI000443805D NM_001098537.2 deleterious(0) probably_damaging(1) 24/35 hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF23 0.0002 0.001 0,1 MODERATE 1 SNV 1 0,1 PASS CGG . . 1.818e-05 7.673e-05 3.12e-05 6.124e-05 1.039e-05 137479088 CDHR5 . GRCh38 chr11 618929 618929 + Missense_Mutation SNP T T C rs147960355 7316-2900 BS_CP2JB80M T T c.1630A>G p.Lys544Glu p.K544E ENST00000358353 14/16 66 52 9 32 28 1 CDHR5,missense_variant,p.Lys544Glu,ENST00000358353,;CDHR5,missense_variant,p.Lys544Glu,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; C ENSG00000099834 ENST00000358353 Transcript missense_variant 1953/3635 1630/2538 544/845 K/E Aag/Gag rs147960355 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(0.71) benign(0.003) 14/16 mobidb-lite,hmmpanther:PTHR45160 0.0002 0.001 MODERATE SNV 5 PASS TTT . . 4.075e-06 5.817e-05 618929 OR51B4 . GRCh38 chr11 5301576 5301576 + Missense_Mutation SNP C C T rs559479796 7316-2900 BS_CP2JB80M C C c.371G>A p.Arg124His p.R124H ENST00000380224 1/1 69 64 5 52 52 0 OR51B4,missense_variant,p.Arg124His,ENST00000380224,NM_033179.2;HBE1,intron_variant,,ENST00000292896,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;AC104389.4,intron_variant,,ENST00000643199,;AC104389.4,intron_variant,,ENST00000646569,;OR51B5,downstream_gene_variant,,ENST00000420465,;OR51B5,downstream_gene_variant,,ENST00000420726,;AC104389.4,intron_variant,,ENST00000380259,; T ENSG00000183251 ENST00000380224 Transcript missense_variant 371/933 371/933 124/310 R/H cGc/cAc rs559479796,COSM302815 1 -1 OR51B4 HGNC HGNC:14708 protein_coding YES CCDS7757.1 ENSP00000369573 Q9Y5P0 UPI0000041B31 NM_033179.2 tolerated(0.21) benign(0.014) 1/1 PROSITE_profiles:PS50262,cd15222,hmmpanther:PTHR26450:SF154,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 0.0002 0.0014 0,1 MODERATE SNV 0,1 PASS GCG . . 5.686e-05 6.534e-05 2.98e-05 5.798e-05 9.849e-05 5301576 LIN7C . GRCh38 chr11 27498812 27498812 + Splice_Region DEL A A - rs746188926 7316-2900 BS_CP2JB80M A A c.439-8del ENST00000278193 69 58 5 32 32 0 LIN7C,splice_region_variant,,ENST00000278193,NM_018362.3;LIN7C,splice_region_variant,,ENST00000524596,; - ENSG00000148943 ENST00000278193 Transcript splice_region_variant,intron_variant rs746188926,TMP_ESP_11_27520359_27520359 1 -1 LIN7C HGNC HGNC:17789 protein_coding YES CCDS7864.1 ENSP00000278193 Q9NUP9 UPI000000BB45 NM_018362.3 4/4 0.001408 0.001333 LOW 1 deletion 1 PASS GGAA . . 6.804e-05 0.0001533 7.828e-05 0.0001491 7.329e-05 4.095e-05 27498811 ALG1L8P . GRCh38 chr11 67786126 67786126 + Splice_Region SNP C C T rs1427831331 7316-2900 BS_CP2JB80M C C n.114C>T ENST00000533887 2/8 70 62 8 44 44 0 ALG1L8P,splice_region_variant,,ENST00000533887,; T ENSG00000227620 ENST00000533887 Transcript splice_region_variant,non_coding_transcript_exon_variant 114/760 rs1427831331 1 1 ALG1L8P HGNC HGNC:44377 unprocessed_pseudogene YES 2/8 LOW 1 SNV PASS TCA . . 67786126 ISM2 . GRCh38 chr14 77484888 77484888 + Missense_Mutation SNP T T C rs191144361 7316-2900 BS_CP2JB80M T T c.173A>G p.Lys58Arg p.K58R ENST00000342219 2/7 64 51 9 41 41 0 ISM2,missense_variant,p.Lys58Arg,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Lys58Arg,ENST00000493585,NM_182509.3;ISM2,missense_variant,p.Lys58Arg,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,; C ENSG00000100593 ENST00000342219 Transcript missense_variant 230/2971 173/1716 58/571 K/R aAg/aGg rs191144361,COSM5950673 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 tolerated_low_confidence(1) benign(0) 2/7 hmmpanther:PTHR10239,hmmpanther:PTHR10239:SF28,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CTT . . 0.001351 0.001287 0.002172 0.001609 0.003138 5.107e-05 0.001114 0.001518 0.001335 77484888 IGHJ6 . GRCh38 chr14 105863240 105863241 + In_Frame_Ins INS - - ACC rs74454466 7316-2900 BS_CP2JB80M - - c.18_19insGGT p.Tyr6_Met7insGly p.Y6_M7insG ENST00000390560 1/1 67 52 9 32 31 0 IGHJ6,inframe_insertion,p.Tyr6_Met7insGly,ENST00000390560,;IGHJ2,downstream_gene_variant,,ENST00000390564,;IGHJ1,downstream_gene_variant,,ENST00000390565,;IGHD7-27,downstream_gene_variant,,ENST00000439842,;IGHJ4,downstream_gene_variant,,ENST00000461719,;IGHJ3,downstream_gene_variant,,ENST00000463911,;IGHJ5,downstream_gene_variant,,ENST00000488476,;MIR4538,upstream_gene_variant,,ENST00000581377,;MIR4537,upstream_gene_variant,,ENST00000581717,;IGHJ3P,downstream_gene_variant,,ENST00000436826,;IGHJ1P,downstream_gene_variant,,ENST00000450690,;IGHJ2P,downstream_gene_variant,,ENST00000454480,; ACC ENSG00000211900 ENST00000390560 Transcript inframe_insertion 18-19/61 18-19/61 6-7/20 -/G -/GGT rs74454466 1 -1 IGHJ6 HGNC HGNC:5540 IG_J_gene YES ENSP00000419223 A0A0A0MT91 UPI000173A6A4 1/1 MODERATE 1 insertion PASS ATG . . 105863240 GOLGA6L6 . GRCh38 chr15 20534756 20534756 + Missense_Mutation SNP C C T rs1437666719 7316-2900 BS_CP2JB80M C C c.1678G>A p.Val560Met p.V560M ENST00000619213 8/9 35 25 5 23 23 0 GOLGA6L6,missense_variant,p.Val560Met,ENST00000619213,NM_001145004.2; T ENSG00000277322 ENST00000619213 Transcript missense_variant 1769/4013 1678/2175 560/724 V/M Gtg/Atg rs1437666719 1 -1 GOLGA6L6 HGNC HGNC:37225 protein_coding YES CCDS45184.1 ENSP00000480376 A8MZA4 UPI000442CF04 NM_001145004.2 tolerated(1) benign(0) 8/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF20 MODERATE 1 SNV 5 PASS ACC . . 0.0002334 0.0006813 0.0002099 0.0003979 8.538e-05 0.0001665 0.0001571 20534756 NIPA1 . GRCh38 chr15 22786657 22786657 + Translation_Start_Site SNP A A C novel 7316-2900 BS_CP2JB80M A A c.1A>C p.Met1? p.M1? ENST00000337435 1/5 55 43 9 35 34 0 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; C ENSG00000170113 ENST00000337435 Transcript start_lost 26/6567 1/990 1/329 M/L Atg/Ctg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS AAT . . 22786657 CACNA1H . GRCh38 chr16 1218649 1218649 + Missense_Mutation SNP T T G rs772374857 7316-2900 BS_CP2JB80M T T c.5885T>G p.Leu1962Trp p.L1962W ENST00000348261 33/35 72 58 11 41 38 1 CACNA1H,missense_variant,p.Leu1962Trp,ENST00000348261,NM_021098.2;CACNA1H,missense_variant,p.Leu1956Trp,ENST00000358590,NM_001005407.1;CACNA1H,missense_variant,p.Leu1949Trp,ENST00000638323,;CACNA1H,missense_variant,p.Leu1956Trp,ENST00000565831,;CACNA1H,missense_variant,p.Leu709Trp,ENST00000569107,;CACNA1H,missense_variant,p.Leu704Trp,ENST00000564231,;CACNA1H,missense_variant,p.Leu698Trp,ENST00000562079,;TPSG1,downstream_gene_variant,,ENST00000234798,NM_012467.3;AC120498.10,upstream_gene_variant,,ENST00000621827,;CACNA1H,splice_region_variant,,ENST00000639478,;CACNA1H,splice_region_variant,,ENST00000640028,;TPSG1,downstream_gene_variant,,ENST00000564684,;,regulatory_region_variant,,ENSR00000082312,; G ENSG00000196557 ENST00000348261 Transcript missense_variant,splice_region_variant 6253/8208 5885/7062 1962/2353 L/W tTg/tGg rs772374857 1 1 CACNA1H HGNC HGNC:1395 protein_coding YES CCDS45375.1 ENSP00000334198 O95180 UPI000012727B NM_021098.2 deleterious(0.02) benign(0) 33/35 hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192 MODERATE 1 SNV 1 1 PASS TTG . . 6.873e-06 1.76e-05 1218649 GSPT1 . GRCh38 chr16 11915674 11915676 + In_Frame_Del DEL CCG CCG - rs774581447 7316-2900 BS_CP2JB80M CCG CCG c.45_47del p.Gly16del p.G16del ENST00000434724 1/15 59 36 6 33 23 0 GSPT1,inframe_deletion,p.Gly16del,ENST00000434724,NM_002094.3;GSPT1,inframe_deletion,p.Gly16del,ENST00000439887,NM_001130006.1;GSPT1,intron_variant,,ENST00000420576,NM_001130007.1;GSPT1,upstream_gene_variant,,ENST00000562169,;GSPT1,upstream_gene_variant,,ENST00000568849,;,regulatory_region_variant,,ENSR00000083413,;,TF_binding_site_variant,,MA0470.1,; - ENSG00000103342 ENST00000434724 Transcript inframe_deletion 245-247/7105 45-47/1914 15-16/637 GG/G ggCGGg/ggg rs774581447,TMP_ESP_16_12009531_12009539,COSM5850169 1 -1 GSPT1 HGNC HGNC:4621 protein_coding YES CCDS45412.1 ENSP00000398131 P15170 UPI000049DE01 NM_002094.3 1/15 Low_complexity_(Seg):seg,mobidb-lite 0.04891 0.04893 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS TCCCGC . . 0.07464 0.1111 0.09226 0.05989 0.158 0.05303 0.06577 0.07538 0.07042 11915673 FCGBP . GRCh38 chr19 39902810 39902810 + Missense_Mutation SNP C C G rs937542812 7316-2900 BS_CP2JB80M C C c.621G>C p.Val208Leu p.V208L ENST00000616721 2/22 67 56 11 26 26 0 FCGBP,missense_variant,p.Val208Leu,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Val205Leu,ENST00000620799,; G ENSG00000275395 ENST00000616721 Transcript missense_variant 621/9382 622/9219 208/3072 V/L Gtg/Ctg rs937542812 1 -1 FCGBP HGNC HGNC:13572 protein_coding YES ENSP00000481056 A0A087WXI2 UPI000BAD598C NM_003890.2 tolerated(0.32) benign(0.034) 2/22 Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF244,SMART_domains:SM00216 0.1387 0.3461 MODERATE 1 SNV 1 PASS ACG . . 0.3364 0.1433 0.4396 0.348 0.2184 0.4047 0.3507 0.3588 0.279 39902810 BEX2 . GRCh38 chrX 103310575 103310575 + Splice_Region SNP A A C novel 7316-2900 BS_CP2JB80M A A c.15+8T>G ENST00000536889 81 65 12 39 38 0 BEX2,splice_region_variant,,ENST00000536889,NM_001168400.1,NM_001168399.1;BEX2,intron_variant,,ENST00000372674,NM_001168401.1;BEX2,intron_variant,,ENST00000372677,NM_032621.3;BEX2,intron_variant,,ENST00000449185,;,regulatory_region_variant,,ENSR00000247693,; C ENSG00000133134 ENST00000536889 Transcript splice_region_variant,intron_variant 1 -1 BEX2 HGNC HGNC:30933 protein_coding YES CCDS55467.1 ENSP00000442521 Q9BXY8 UPI0000D4D907 NM_001168400.1,NM_001168399.1 1/2 LOW 1 SNV 2 PASS CAA . . 103310575 IRF5 . GRCh38 chr7 128947320 128947320 + Missense_Mutation SNP G G A rs113806178 7316-176 BS_4KXBM5J8 G G c.572G>A p.Arg191Gln p.R191Q ENST00000489702 6/9 39 24 14 22 21 1 IRF5,missense_variant,p.Arg191Gln,ENST00000489702,NM_001347928.1;IRF5,missense_variant,p.Arg175Gln,ENST00000402030,NM_001098630.2;IRF5,missense_variant,p.Arg175Gln,ENST00000249375,NM_032643.4;IRF5,missense_variant,p.Arg175Gln,ENST00000473745,NM_001098627.3;IRF5,missense_variant,p.Arg191Gln,ENST00000357234,NM_001098629.2;IRF5,intron_variant,,ENST00000477535,NM_001242452.2;IRF5,intron_variant,,ENST00000619830,;IRF5,downstream_gene_variant,,ENST00000464557,;IRF5,downstream_gene_variant,,ENST00000479582,;IRF5,downstream_gene_variant,,ENST00000613821,;IRF5,3_prime_UTR_variant,,ENST00000465603,;IRF5,non_coding_transcript_exon_variant,,ENST00000461416,;IRF5,downstream_gene_variant,,ENST00000473787,;IRF5,downstream_gene_variant,,ENST00000488569,;,regulatory_region_variant,,ENSR00000217803,; A ENSG00000128604 ENST00000489702 Transcript missense_variant 806/2988 572/1545 191/514 R/Q cGg/cAg rs113806178,COSM4969133,COSM1319028 1 1 IRF5 HGNC HGNC:6120 protein_coding YES CCDS43645.1 ENSP00000418037 Q13568 C9JAU6 UPI000013CC7D NM_001347928.1 tolerated(0.37) unknown(0) 6/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF10 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS CGG . . 3.514e-05 3.074e-05 6.027e-05 4.782e-05 3.005e-05 6.725e-05 128947320 HEPHL1 . GRCh38 chr11 94093597 94093597 + Missense_Mutation SNP G G T 7316-176 BS_4KXBM5J8 G G c.2391G>T p.Glu797Asp p.E797D ENST00000315765 13/20 76 70 6 26 25 1 HEPHL1,missense_variant,p.Glu797Asp,ENST00000315765,NM_001098672.1; T ENSG00000181333 ENST00000315765 Transcript missense_variant 2399/5345 2391/3480 797/1159 E/D gaG/gaT COSM1209537 1 1 HEPHL1 HGNC HGNC:30477 protein_coding YES CCDS44710.1 ENSP00000313699 Q6MZM0 UPI0000237563 NM_001098672.1 tolerated(0.37) benign(0.148) 13/20 hmmpanther:PTHR44048,hmmpanther:PTHR44048:SF3,Gene3D:2.60.40.420,Superfamily_domains:SSF49503 1 MODERATE 1 SNV 5 1 PASS AGA . . 94093597 KIAA0391 . GRCh38 chr14 35123494 35123494 + Frame_Shift_Del DEL T T - rs760446387 7316-176 BS_4KXBM5J8 T T c.257del p.Leu86Ter p.L86* ENST00000534898 2/8 51 42 5 46 41 0 KIAA0391,frameshift_variant,p.Leu86Ter,ENST00000250377,NM_001256678.1;KIAA0391,frameshift_variant,p.Leu86Ter,ENST00000534898,NM_014672.3;KIAA0391,frameshift_variant,p.Leu86Ter,ENST00000603544,;KIAA0391,intron_variant,,ENST00000321130,NM_001256681.1;KIAA0391,intron_variant,,ENST00000557404,;KIAA0391,intron_variant,,ENST00000604948,NM_001256679.1;KIAA0391,intron_variant,,ENST00000605870,NM_001256680.1;PPP2R3C,upstream_gene_variant,,ENST00000261475,NM_001305155.1,NM_017917.3,NM_001305156.1;PPP2R3C,upstream_gene_variant,,ENST00000554361,;PPP2R3C,upstream_gene_variant,,ENST00000555644,;PPP2R3C,upstream_gene_variant,,ENST00000557278,;KIAA0391,downstream_gene_variant,,ENST00000603611,;KIAA0391,downstream_gene_variant,,ENST00000604073,;KIAA0391,downstream_gene_variant,,ENST00000605201,;KIAA0391,intron_variant,,ENST00000603588,;AL121594.1,frameshift_variant,p.Leu86Ter,ENST00000557565,;PPP2R3C,upstream_gene_variant,,ENST00000553273,;PPP2R3C,upstream_gene_variant,,ENST00000553282,;PPP2R3C,upstream_gene_variant,,ENST00000554222,;PPP2R3C,upstream_gene_variant,,ENST00000554265,;PPP2R3C,upstream_gene_variant,,ENST00000554488,;PPP2R3C,upstream_gene_variant,,ENST00000554563,;PPP2R3C,upstream_gene_variant,,ENST00000554899,;PPP2R3C,upstream_gene_variant,,ENST00000555630,;PPP2R3C,upstream_gene_variant,,ENST00000555726,;PPP2R3C,upstream_gene_variant,,ENST00000556254,;PPP2R3C,upstream_gene_variant,,ENST00000557217,;PPP2R3C,upstream_gene_variant,,ENST00000557288,;PPP2R3C,upstream_gene_variant,,ENST00000557773,;,regulatory_region_variant,,ENSR00000067624,; - ENSG00000100890 ENST00000534898 Transcript frameshift_variant 609/2611 249/1752 83/583 H/X caT/ca rs760446387,COSM1369667 1 1 KIAA0391 HGNC HGNC:19958 protein_coding YES CCDS32063.1 ENSP00000440915 O15091 UPI000000CC23 NM_014672.3 2/8 Gene3D:1.25.40.10 0,1 HIGH 1 deletion 1 8 0,1 PASS CATT . . 0.0001569 7.066e-05 0.0001668 0.0001278 0.0005159 0.0001467 7.209e-05 35123493 GOLGA6L2 . GRCh38 chr15 23441106 23441106 + Missense_Mutation SNP T T C rs766024699 7316-176 BS_4KXBM5J8 T T c.1369A>G p.Lys457Glu p.K457E ENST00000567107 8/8 38 31 6 33 33 0 GOLGA6L2,missense_variant,p.Lys457Glu,ENST00000567107,NM_001304388.1;GOLGA6L2,missense_variant,p.Lys184Glu,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; C ENSG00000174450 ENST00000567107 Transcript missense_variant 1422/3030 1369/2730 457/909 K/E Aag/Gag rs766024699,COSM4148541,COSM4148540,COSM4148539 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 tolerated(0.6) benign(0.02) 8/8 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS TTC . . 1.962e-05 5.109e-05 23441106 KLF18 . GRCh38 chr1 44139987 44139987 + Missense_Mutation SNP G G T novel 7316-1851 BS_RVFDSK8D G G c.1645C>A p.Pro549Thr p.P549T ENST00000634670 1/2 57 39 9 29 26 0 KLF18,missense_variant,p.Pro549Thr,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; T ENSG00000283039 ENST00000634670 Transcript missense_variant 1645/3159 1645/3159 549/1052 P/T Ccc/Acc 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.07) benign(0) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GGG . . 44139987 COL24A1 . GRCh38 chr1 86017211 86017212 + Splice_Region INS - - G rs746498896 7316-1851 BS_RVFDSK8D - - c.2257-8dup ENST00000370571 95 63 21 33 32 1 COL24A1,splice_region_variant,,ENST00000370571,NM_152890.5,NM_001349955.1;COL24A1,splice_region_variant,,ENST00000426639,; G ENSG00000171502 ENST00000370571 Transcript splice_region_variant,intron_variant rs746498896,TMP_ESP_1_86482895_86482895 1 -1 COL24A1 HGNC HGNC:20821 protein_coding YES CCDS41353.1 ENSP00000359603 Q17RW2 UPI000013E81F NM_152890.5,NM_001349955.1 18/59 0.006853 0.004859 LOW 1 insertion 1 PASS ATG . . 0.0008286 0.0007092 0.0006978 0.003769 0.001195 4.895e-05 0.0003784 0.0005737 0.00254 86017211 TCHH . GRCh38 chr1 152108183 152108183 + Missense_Mutation SNP T T G novel 7316-1851 BS_RVFDSK8D T T c.5034A>C p.Glu1678Asp p.E1678D ENST00000614923 3/3 80 60 10 31 29 0 TCHH,missense_variant,p.Glu1678Asp,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Glu1678Asp,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 5129/6995 5034/5832 1678/1943 E/D gaA/gaC 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.09) benign(0.102) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS CTT . . 152108183 FLG2 . GRCh38 chr1 152350902 152350902 + Missense_Mutation SNP T T A 7316-1851 BS_RVFDSK8D T T c.6884A>T p.Glu2295Val p.E2295V ENST00000388718 3/3 105 87 11 36 34 0 FLG2,missense_variant,p.Glu2295Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 6957/9124 6884/7176 2295/2391 E/V gAa/gTa COSM6263566 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.28) possibly_damaging(0.812) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS TTC . . 152350902 IGFN1 . GRCh38 chr1 201210748 201210748 + Missense_Mutation SNP A A G rs759000356 7316-1851 BS_RVFDSK8D A A c.5855A>G p.Glu1952Gly p.E1952G ENST00000335211 12/24 51 37 5 27 26 0 IGFN1,missense_variant,p.Glu1952Gly,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 5985/11810 5855/11127 1952/3708 E/G gAa/gGa rs759000356,COSM4143185 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.18) benign(0) 12/24 mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS GAA . . 4.069e-05 9.711e-05 201210748 OBSCN . GRCh38 chr1 228372058 228372058 + Missense_Mutation SNP T T G 7316-1851 BS_RVFDSK8D T T c.24151T>G p.Leu8051Val p.L8051V ENST00000570156 105/116 116 104 11 29 26 1 OBSCN,missense_variant,p.Leu8051Val,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Leu8051Val,ENST00000366707,;OBSCN,missense_variant,p.Leu7094Val,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Leu7094Val,ENST00000636875,;OBSCN,missense_variant,p.Leu1711Val,ENST00000636476,; G ENSG00000154358 ENST00000570156 Transcript missense_variant 24225/26925 24151/26772 8051/8923 L/V Ttg/Gtg COSM464089,COSM1134836 1 1 OBSCN HGNC HGNC:15719 protein_coding YES CCDS59204.1 ENSP00000455507 A6NGQ3 UPI00027FCDB5 NM_001271223.2 tolerated(0.81) benign(0.011) 105/116 mobidb-lite 1,1 MODERATE 1 SNV 5 1,1 PASS ATT . . 228372058 STT3B . GRCh38 chr3 31532999 31532999 + Translation_Start_Site SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.1A>C p.Met1? p.M1? ENST00000295770 1/16 94 86 6 21 20 0 STT3B,start_lost,p.Met1?,ENST00000295770,NM_178862.2;STT3B,non_coding_transcript_exon_variant,,ENST00000453168,;STT3B,non_coding_transcript_exon_variant,,ENST00000423527,;STT3B,upstream_gene_variant,,ENST00000462235,;,regulatory_region_variant,,ENSR00000150420,;,TF_binding_site_variant,,MA0095.2,; C ENSG00000163527 ENST00000295770 Transcript start_lost 210/4248 1/2481 1/826 M/L Atg/Ctg 1 1 STT3B HGNC HGNC:30611 protein_coding YES CCDS2650.1 ENSP00000295770 Q8TCJ2 UPI000006D7FB NM_178862.2 deleterious_low_confidence(0) benign(0.007) 1/16 mobidb-lite HIGH 1 SNV 1 1 PASS CAT . . 31532999 SETD2 . GRCh38 chr3 47086248 47086248 + Missense_Mutation SNP A A G novel 7316-1851 BS_RVFDSK8D A A c.5344T>C p.Trp1782Arg p.W1782R ENST00000409792 11/21 73 51 22 27 27 0 SETD2,missense_variant,p.Trp1782Arg,ENST00000409792,NM_014159.6,NM_001349370.1;SETD2,missense_variant,p.Trp332Arg,ENST00000638947,;SETD2,upstream_gene_variant,,ENST00000492397,;SETD2,missense_variant,p.Trp1416Arg,ENST00000445387,;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;SETD2,downstream_gene_variant,,ENST00000484689,; G ENSG00000181555 ENST00000409792 Transcript missense_variant 5387/8142 5344/7695 1782/2564 W/R Tgg/Cgg 1 -1 SETD2 HGNC HGNC:18420 protein_coding YES CCDS2749.2 ENSP00000386759 Q9BYW2 UPI00017E10FB NM_014159.6,NM_001349370.1 deleterious(0) probably_damaging(0.915) 11/21 MODERATE 1 SNV 5 1 PASS CAG . . 47086248 GPR27 . GRCh38 chr3 71754708 71754708 + Missense_Mutation SNP T T G novel 7316-1851 BS_RVFDSK8D T T c.659T>G p.Val220Gly p.V220G ENST00000304411 1/1 70 59 8 29 29 0 GPR27,missense_variant,p.Val220Gly,ENST00000304411,NM_018971.1;EIF4E3,5_prime_UTR_variant,,ENST00000421769,NM_173359.4;EIF4E3,upstream_gene_variant,,ENST00000295612,NM_001282886.1;EIF4E3,upstream_gene_variant,,ENST00000448225,NM_001134649.2;EIF4E3,upstream_gene_variant,,ENST00000496214,; G ENSG00000170837 ENST00000304411 Transcript missense_variant 659/2447 659/1128 220/375 V/G gTg/gGg 1 1 GPR27 HGNC HGNC:4482 protein_coding YES CCDS2915.1 ENSP00000303149 Q9NS67 F1DAM3 UPI0000049802 NM_018971.1 deleterious(0) benign(0.113) 1/1 PROSITE_profiles:PS50262,cd15216,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF8,Pfam_domain:PF00001,Gene3D:1.20.1070.10 MODERATE 1 SNV PASS GTG . . 71754708 TOMM70 . GRCh38 chr3 100400918 100400918 + Missense_Mutation SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.32T>G p.Val11Gly p.V11G ENST00000284320 1/12 110 97 7 36 35 0 TOMM70,missense_variant,p.Val11Gly,ENST00000284320,NM_014820.4;LNP1,upstream_gene_variant,,ENST00000383693,NM_001085451.1;LNP1,upstream_gene_variant,,ENST00000489752,;LNP1,upstream_gene_variant,,ENST00000466996,;,regulatory_region_variant,,ENSR00000155636,; C ENSG00000154174 ENST00000284320 Transcript missense_variant 481/4409 32/1827 11/608 V/G gTg/gGg 1 -1 TOMM70 HGNC HGNC:11985 protein_coding YES CCDS33807.1 ENSP00000284320 O94826 UPI0000000C55 NM_014820.4 tolerated_low_confidence(0.63) benign(0.015) 1/12 Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 100400918 MUC4 . GRCh38 chr3 195784532 195784532 + Missense_Mutation SNP C C T rs78846267 7316-1851 BS_RVFDSK8D C C c.7048G>A p.Ala2350Thr p.A2350T ENST00000463781 2/25 71 49 10 27 24 0 MUC4,missense_variant,p.Ala2350Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala2350Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala2350Thr,ENST00000478156,;MUC4,missense_variant,p.Ala2350Thr,ENST00000466475,;MUC4,missense_variant,p.Ala2350Thr,ENST00000477756,;MUC4,missense_variant,p.Ala2350Thr,ENST00000477086,;MUC4,missense_variant,p.Ala2350Thr,ENST00000480843,;MUC4,missense_variant,p.Ala2350Thr,ENST00000462323,;MUC4,missense_variant,p.Ala2350Thr,ENST00000470451,;MUC4,missense_variant,p.Ala2350Thr,ENST00000479406,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 7508/17110 7048/16239 2350/5412 A/T Gcc/Acc rs78846267,COSM1617373 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.81) possibly_damaging(0.494) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCG . . 0.001235 0.006384 0.0005733 0.0003071 0.001754 0.00145 0.001685 0.001973 5.685e-05 195784532 FIP1L1 . GRCh38 chr4 53453081 53453082 + Frame_Shift_Del DEL AG AG - rs143671659 7316-1851 BS_RVFDSK8D AG AG c.1459_1460del p.Arg487GlyfsTer3 p.R487Gfs*3 ENST00000337488 16/18 68 52 6 19 18 0 FIP1L1,frameshift_variant,p.Arg487GlyfsTer3,ENST00000337488,NM_030917.3;FIP1L1,frameshift_variant,p.Arg481GlyfsTer3,ENST00000358575,NM_001134937.1;FIP1L1,frameshift_variant,p.Arg144GlyfsTer3,ENST00000504094,;FIP1L1,frameshift_variant,p.Arg413GlyfsTer3,ENST00000306932,NM_001134938.1;AC058822.1,intron_variant,,ENST00000507166,;FIP1L1,3_prime_UTR_variant,,ENST00000514543,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000505125,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000513008,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000511055,; - ENSG00000145216 ENST00000337488 Transcript frameshift_variant 1641-1642/2198 1447-1448/1785 483/594 R/X AGa/a rs143671659,COSM4435275,COSM249696 1 1 FIP1L1 HGNC HGNC:19124 protein_coding YES CCDS3491.1 ENSP00000336752 Q6UN15 UPI0000035FBF NM_030917.3 16/18 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13484,hmmpanther:PTHR13484:SF0 0,1,1 HIGH 1 deletion 1 12 0,1,1 1 PASS CCAGA . . 0.007985 0.004172 0.00575 0.009014 0.005722 0.01095 0.008428 0.005394 0.009865 53453080 GRSF1 . GRCh38 chr4 70839616 70839616 + Missense_Mutation SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.212T>G p.Val71Gly p.V71G ENST00000254799 1/10 112 98 8 21 21 0 GRSF1,missense_variant,p.Val71Gly,ENST00000254799,NM_002092.3;GRSF1,intron_variant,,ENST00000545193,;GRSF1,upstream_gene_variant,,ENST00000499044,;GRSF1,upstream_gene_variant,,ENST00000502323,NM_001098477.1;GRSF1,upstream_gene_variant,,ENST00000514161,;GRSF1,upstream_gene_variant,,ENST00000508091,;GRSF1,non_coding_transcript_exon_variant,,ENST00000505068,;,regulatory_region_variant,,ENSR00000169026,; C ENSG00000132463 ENST00000254799 Transcript missense_variant 330/6666 212/1443 71/480 V/G gTg/gGg 1 -1 GRSF1 HGNC HGNC:4610 protein_coding YES CCDS47069.1 ENSP00000254799 Q12849 UPI0001838834 NM_002092.3 deleterious_low_confidence(0.05) benign(0.007) 1/10 hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF42 MODERATE 1 SNV 5 PASS CAC . . 70839616 SLC9B1 . GRCh38 chr4 102901326 102901327 + Frame_Shift_Del DEL AC AC - rs753242024 7316-1851 BS_RVFDSK8D AC AC c.1338_1339del p.Leu447ArgfsTer47 p.L447Rfs*47 ENST00000296422 12/12 107 83 15 43 39 0 SLC9B1,frameshift_variant,p.Leu447ArgfsTer47,ENST00000296422,NM_139173.3;SLC9B1,intron_variant,,ENST00000394789,NM_001100874.2;SLC9B1,downstream_gene_variant,,ENST00000511253,;SLC9B1,non_coding_transcript_exon_variant,,ENST00000512651,;SLC9B1,non_coding_transcript_exon_variant,,ENST00000509614,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,intron_variant,,ENST00000503584,;SLC9B1,intron_variant,,ENST00000514972,;PABPC1P7,downstream_gene_variant,,ENST00000413177,; - ENSG00000164037 ENST00000296422 Transcript frameshift_variant 1480-1481/1879 1338-1339/1548 446-447/515 VL/VX gtGTta/gtta rs753242024,COSM1426150 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 12/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 HIGH 1 deletion 1 0,1 PASS TAACA . . 0.003226 0.002044 0.009269 0.001618 0.01033 9.761e-05 0.001883 0.005008 0.003052 102901325 SMARCA5 . GRCh38 chr4 143514072 143514072 + Missense_Mutation SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.148A>C p.Ser50Arg p.S50R ENST00000283131 1/24 112 92 12 36 36 0 SMARCA5,missense_variant,p.Ser50Arg,ENST00000283131,NM_003601.3;SMARCA5-AS1,non_coding_transcript_exon_variant,,ENST00000500800,;,regulatory_region_variant,,ENSR00000174152,; C ENSG00000153147 ENST00000283131 Transcript missense_variant 610/7923 148/3159 50/1052 S/R Agc/Cgc 1 1 SMARCA5 HGNC HGNC:11101 protein_coding YES CCDS3761.1 ENSP00000283131 O60264 UPI000006E693 NM_003601.3 tolerated(0.54) benign(0) 1/24 hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF887,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAG . . 143514072 NKD2 . GRCh38 chr5 1009059 1009059 + Translation_Start_Site SNP T T G novel 7316-1851 BS_RVFDSK8D T T c.2T>G p.Met1? p.M1? ENST00000296849 1/10 94 73 9 23 17 0 NKD2,start_lost,p.Met1?,ENST00000296849,NM_033120.3;NKD2,start_lost,p.Met1?,ENST00000274150,NM_001271082.1;AC116351.2,downstream_gene_variant,,ENST00000606540,;,regulatory_region_variant,,ENSR00000177496,; G ENSG00000145506 ENST00000296849 Transcript start_lost 231/2155 2/1356 1/451 M/R aTg/aGg 1 1 NKD2 HGNC HGNC:17046 protein_coding YES CCDS3859.1 ENSP00000296849 Q969F2 UPI0000073E19 NM_033120.3 deleterious(0) benign(0.402) 1/10 mobidb-lite,hmmpanther:PTHR22611:SF1,hmmpanther:PTHR22611 HIGH 1 SNV 1 PASS ATG . . 1009059 BDP1 . GRCh38 chr5 71510558 71510558 + Missense_Mutation SNP G G A rs199781951 7316-1851 BS_RVFDSK8D G G c.3466G>A p.Glu1156Lys p.E1156K ENST00000358731 17/39 92 80 5 34 33 0 BDP1,missense_variant,p.Glu1156Lys,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,; A ENSG00000145734 ENST00000358731 Transcript missense_variant 3729/11073 3466/7875 1156/2624 E/K Gag/Aag rs199781951 1 1 BDP1 HGNC HGNC:13652 protein_coding YES CCDS43328.1 ENSP00000351575 A6H8Y1 UPI000020CA90 NM_018429.2 tolerated(0.21) benign(0.039) 17/39 mobidb-lite,hmmpanther:PTHR22929 0.00049 MODERATE 1 SNV 1 1 PASS AGA . . 0.0001587 2.98e-05 0.0001017 8.977e-05 0.0003055 0.000183 71510558 CAST . GRCh38 chr5 96662494 96662494 + Missense_Mutation SNP T T G novel 7316-1851 BS_RVFDSK8D T T c.72T>G p.His24Gln p.H24Q ENST00000395812 1/30 103 92 10 29 29 0 CAST,missense_variant,p.His24Gln,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Gln,ENST00000508830,;CAST,missense_variant,p.His24Gln,ENST00000510756,;CAST,missense_variant,p.His24Gln,ENST00000511097,;CAST,missense_variant,p.His24Gln,ENST00000421689,;CAST,missense_variant,p.His7Gln,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; G ENSG00000153113 ENST00000395812 Transcript missense_variant 258/4506 72/2253 24/750 H/Q caT/caG 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 tolerated_low_confidence(1) benign(0) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS ATG . . 96662494 PCDHB8 . GRCh38 chr5 141178696 141178696 + Missense_Mutation SNP C C T rs782235349 7316-1851 BS_RVFDSK8D C C c.662C>T p.Pro221Leu p.P221L ENST00000239444 1/1 47 20 26 21 21 0 PCDHB8,missense_variant,p.Pro221Leu,ENST00000239444,NM_019120.4;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;AC244517.6,upstream_gene_variant,,ENST00000623884,;PCDHB16,upstream_gene_variant,,ENST00000625044,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,downstream_gene_variant,,ENST00000624549,;AC244517.2,upstream_gene_variant,,ENST00000624802,;AC244517.8,intron_variant,,ENST00000623995,;AC244517.6,upstream_gene_variant,,ENST00000623407,;,regulatory_region_variant,,ENSR00000317579,; T ENSG00000120322 ENST00000239444 Transcript missense_variant 907/2740 662/2406 221/801 P/L cCg/cTg rs782235349,COSM288295 1 1 PCDHB8 HGNC HGNC:8693 protein_coding YES CCDS4250.1 ENSP00000239444 Q9UN66 UPI000192C41A NM_019120.4 deleterious_low_confidence(0.02) possibly_damaging(0.751) 1/1 Gene3D:2.60.350.10,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF150,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 0,1 MODERATE SNV 0,1 PASS CCG . . 8.131e-06 6.535e-05 2.979e-05 141178696 BTNL8 . GRCh38 chr5 180948376 180948379 + Splice_Site DEL GTAA GTAA - rs576733269 7316-1851 BS_RVFDSK8D GTAA GTAA c.808+4_808+7del p.X270_splice ENST00000340184 60 51 6 21 21 0 BTNL8,splice_donor_variant,,ENST00000231229,NM_024850.2;BTNL8,splice_donor_variant,,ENST00000340184,NM_001040462.2;BTNL8,splice_donor_variant,,ENST00000400707,NM_001159709.1;BTNL8,splice_donor_variant,,ENST00000505126,;BTNL8,splice_donor_variant,,ENST00000511704,NM_001159707.1;BTNL8,splice_donor_variant,,ENST00000533815,NM_001159710.1;BTNL8,splice_donor_variant,,ENST00000610640,;BTNL8,intron_variant,,ENST00000508408,NM_001159708.1;BTNL8,splice_donor_variant,,ENST00000503543,;BTNL8,non_coding_transcript_exon_variant,,ENST00000513442,;BTNL8,downstream_gene_variant,,ENST00000514448,;RPS29P12,downstream_gene_variant,,ENST00000460178,; - ENSG00000113303 ENST00000340184 Transcript splice_donor_variant,intron_variant rs576733269,COSM5946852,COSM243261 1 1 BTNL8 HGNC HGNC:26131 protein_coding YES CCDS43413.1 ENSP00000342197 Q6UX41 UPI00000389ED NM_001040462.2 5/7 0.0345 0.0083 0.085 0.0397 0.0577 0.0051 0.003089 0.01382 0,1,1 HIGH 1 deletion 1 3 0,1,1 PASS GGGTAAG . . 0.0001494 0.0003269 0.001056 6.143e-05 6.92e-05 0.0001982 180948375 PRRT1 . GRCh38 chr6 32150751 32150751 + Missense_Mutation SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.175T>G p.Leu59Val p.L59V ENST00000211413 2/4 117 93 19 33 33 0 PRRT1,missense_variant,p.Leu59Val,ENST00000211413,NM_030651.3;PRRT1,intron_variant,,ENST00000375150,;AL662884.4,intron_variant,,ENST00000428778,;PPT2,upstream_gene_variant,,ENST00000324816,NM_005155.6,NM_001204103.1;PPT2,upstream_gene_variant,,ENST00000361568,NM_138717.2;PPT2,upstream_gene_variant,,ENST00000375137,;PPT2,upstream_gene_variant,,ENST00000375143,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;AL662884.3,downstream_gene_variant,,ENST00000475826,;AL662884.3,downstream_gene_variant,,ENST00000485392,;AL662884.3,downstream_gene_variant,,ENST00000494332,;AL662884.3,downstream_gene_variant,,ENST00000497552,;AL662884.3,downstream_gene_variant,,ENST00000498575,;PRRT1,intron_variant,,ENST00000472641,;PPT2-EGFL8,upstream_gene_variant,,ENST00000453656,;PPT2,upstream_gene_variant,,ENST00000465047,;PRRT1,upstream_gene_variant,,ENST00000467780,;PPT2,upstream_gene_variant,,ENST00000478521,;AL662884.4,downstream_gene_variant,,ENST00000486917,;PPT2,upstream_gene_variant,,ENST00000493548,;PRRT1,non_coding_transcript_exon_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2,upstream_gene_variant,,ENST00000436118,;PPT2-EGFL8,upstream_gene_variant,,ENST00000583227,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,; C ENSG00000204314 ENST00000211413 Transcript missense_variant 300/1909 175/921 59/306 L/V Tta/Gta 1 -1 PRRT1 HGNC HGNC:13943 protein_coding YES CCDS4739.1 ENSP00000211413 Q99946 A0A1U9X8D6 UPI000012FFED NM_030651.3 deleterious_low_confidence(0) possibly_damaging(0.636) 2/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14948:SF21,hmmpanther:PTHR14948 MODERATE 1 SNV 1 PASS AAG . . 32150751 SOBP . GRCh38 chr6 107634478 107634478 + Missense_Mutation SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.1634A>C p.His545Pro p.H545P ENST00000317357 6/7 83 67 8 21 20 0 SOBP,missense_variant,p.His545Pro,ENST00000317357,NM_018013.3;SOBP,upstream_gene_variant,,ENST00000494935,;,regulatory_region_variant,,ENSR00000200728,; C ENSG00000112320 ENST00000317357 Transcript missense_variant 2293/5245 1634/2622 545/873 H/P cAc/cCc 1 1 SOBP HGNC HGNC:29256 protein_coding YES CCDS43488.1 ENSP00000318900 A7XYQ1 UPI0000E6A8ED NM_018013.3 tolerated(0.17) possibly_damaging(0.6) 6/7 hmmpanther:PTHR23186:SF2,hmmpanther:PTHR23186 MODERATE 1 SNV 5 1 PASS CAC . . 107634478 AL135902.1 . GRCh38 chr6 136983161 136983163 + Splice_Region DEL GAA GAA - rs554715498 7316-1851 BS_RVFDSK8D GAA GAA n.369-10_369-8del ENST00000432330 70 43 20 27 27 0 AL135902.1,splice_region_variant,,ENST00000418699,;AL135902.1,splice_region_variant,,ENST00000432330,; - ENSG00000225391 ENST00000432330 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs554715498 1 -1 AL135902.1 Clone_based_ensembl_gene lincRNA YES 2/2 0.0006 0.0023 LOW 1 deletion 1 PASS AGGAAG . . 136983160 SAMD5 . GRCh38 chr6 147509197 147509197 + Missense_Mutation SNP T T G novel 7316-1851 BS_RVFDSK8D T T c.269T>G p.Val90Gly p.V90G ENST00000367474 1/2 93 78 8 23 23 0 SAMD5,missense_variant,p.Val90Gly,ENST00000367474,NM_001030060.2;SAMD5,upstream_gene_variant,,ENST00000566741,;,regulatory_region_variant,,ENSR00000323616,; G ENSG00000203727 ENST00000367474 Transcript missense_variant 271/6089 269/522 90/173 V/G gTc/gGc 1 1 SAMD5 HGNC HGNC:21180 protein_coding YES CCDS34548.1 ENSP00000356444 Q5TGI4 UPI000022CCF8 NM_001030060.2 tolerated(0.53) benign(0.075) 1/2 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 2 PASS GTC . . 147509197 PTPRN2 . GRCh38 chr7 157621358 157621358 + Splice_Region SNP G G A rs201342955 7316-1851 BS_RVFDSK8D G G c.2344+4C>T ENST00000389418 141 118 19 39 38 0 PTPRN2,splice_region_variant,,ENST00000389413,NM_130843.3;PTPRN2,splice_region_variant,,ENST00000389416,NM_130842.3;PTPRN2,splice_region_variant,,ENST00000389418,NM_002847.4,NM_001308268.1;PTPRN2,splice_region_variant,,ENST00000409483,NM_001308267.1;AC005481.1,downstream_gene_variant,,ENST00000409610,; A ENSG00000155093 ENST00000389418 Transcript splice_region_variant,intron_variant rs201342955 1 -1 PTPRN2 HGNC HGNC:9677 protein_coding YES CCDS5947.1 ENSP00000374069 Q92932 UPI000002E7C7 NM_002847.4,NM_001308268.1 15/22 0.0078 0.0159 0.0072 0.001 0.001 0.0112 LOW 1 SNV 1 PASS CGT . . 0.0001896 0.0005476 0.0002163 0.001256 4.766e-05 5.699e-05 0.0003814 3.337e-05 157621358 PTPRN2 . GRCh38 chr7 157621359 157621359 + Splice_Region SNP T T C rs577721927 7316-1851 BS_RVFDSK8D T T c.2344+3A>G ENST00000389418 138 114 19 39 38 0 PTPRN2,splice_region_variant,,ENST00000389413,NM_130843.3;PTPRN2,splice_region_variant,,ENST00000389416,NM_130842.3;PTPRN2,splice_region_variant,,ENST00000389418,NM_002847.4,NM_001308268.1;PTPRN2,splice_region_variant,,ENST00000409483,NM_001308267.1;AC005481.1,downstream_gene_variant,,ENST00000409610,; C ENSG00000155093 ENST00000389418 Transcript splice_region_variant,intron_variant rs577721927 1 -1 PTPRN2 HGNC HGNC:9677 protein_coding YES CCDS5947.1 ENSP00000374069 Q92932 UPI000002E7C7 NM_002847.4,NM_001308268.1 15/22 0.0078 0.0159 0.0072 0.001 0.001 0.0112 LOW 1 SNV 1 PASS GTA . . 6.528e-05 0.0002408 9.341e-05 6.355e-05 4.829e-05 4.797e-05 0.0003851 157621359 GKAP1 . GRCh38 chr9 83739748 83739749 + Splice_Region INS - - A rs768690901 7316-1851 BS_RVFDSK8D - - c.1054-5dup ENST00000376371 79 51 15 35 31 0 GKAP1,splice_region_variant,,ENST00000376365,NM_001135953.1;GKAP1,splice_region_variant,,ENST00000376371,NM_025211.3;GKAP1,splice_region_variant,,ENST00000376362,; A ENSG00000165113 ENST00000376371 Transcript splice_region_variant,intron_variant rs768690901 1 -1 GKAP1 HGNC HGNC:17496 protein_coding YES CCDS35049.1 ENSP00000365550 Q5VSY0 UPI000007224D NM_025211.3 12/12 LOW 1 insertion 1 PASS GTA . . 0.06793 0.06244 0.06681 0.05733 0.1047 0.1294 0.05591 0.06949 0.05674 83739748 SLC9B1P3 . GRCh38 chr10 38645288 38645288 + Splice_Region SNP C C T rs1192082619 7316-1851 BS_RVFDSK8D C C n.1118+5G>A ENST00000452667 143 118 23 29 29 0 SLC9B1P3,splice_region_variant,,ENST00000452667,; T ENSG00000233867 ENST00000452667 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1192082619 1 -1 SLC9B1P3 HGNC HGNC:43582 unprocessed_pseudogene YES 8/8 LOW 1 SNV PASS TCT . . 38645288 LARGE2 . GRCh38 chr11 45922911 45922911 + Missense_Mutation SNP T T G novel 7316-1851 BS_RVFDSK8D T T c.29T>G p.Leu10Arg p.L10R ENST00000531526 2/14 112 86 21 12 12 0 LARGE2,missense_variant,p.Leu10Arg,ENST00000531526,NM_152312.4;LARGE2,missense_variant,p.Leu10Arg,ENST00000325468,;LARGE2,missense_variant,p.Leu10Arg,ENST00000401752,NM_001300721.1;LARGE2,missense_variant,p.Leu10Arg,ENST00000529052,NM_001300722.1;PEX16,upstream_gene_variant,,ENST00000378750,NM_004813.2;PEX16,upstream_gene_variant,,ENST00000525192,;PEX16,upstream_gene_variant,,ENST00000532681,;LARGE2,upstream_gene_variant,,ENST00000534410,;LARGE2,upstream_gene_variant,,ENST00000414027,;LARGE2,upstream_gene_variant,,ENST00000525609,;LARGE2,upstream_gene_variant,,ENST00000528236,;PEX16,upstream_gene_variant,,ENST00000528674,;PEX16,upstream_gene_variant,,ENST00000529030,;LARGE2,upstream_gene_variant,,ENST00000530437,;,regulatory_region_variant,,ENSR00000039462,; G ENSG00000165905 ENST00000531526 Transcript missense_variant 140/2528 29/2166 10/721 L/R cTg/cGg 1 1 LARGE2 HGNC HGNC:16522 protein_coding YES CCDS31473.1 ENSP00000432869 Q8N3Y3 UPI000004B639 NM_152312.4 deleterious_low_confidence(0) benign(0.145) 2/14 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12270:SF23,hmmpanther:PTHR12270 MODERATE 1 SNV 2 PASS CTG . . 45922911 CNTN5 . GRCh38 chr11 99819730 99819730 + Missense_Mutation SNP A A G rs10893933 7316-1851 BS_RVFDSK8D A A c.242A>G p.Asn81Ser p.N81S ENST00000524871 4/25 71 60 10 35 33 1 CNTN5,missense_variant,p.Asn81Ser,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Asn65Ser,ENST00000279463,;CNTN5,missense_variant,p.Asn81Ser,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Asn81Ser,ENST00000528682,NM_001243270.1;CNTN5,intron_variant,,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,; G ENSG00000149972 ENST00000524871 Transcript missense_variant 532/6258 242/3303 81/1100 N/S aAt/aGt rs10893933,COSM4592080,COSM4592079 1 1 CNTN5 HGNC HGNC:2175 protein_coding YES CCDS53696.1 ENSP00000435637 O94779 UPI000006DAB0 NM_014361.3 tolerated_low_confidence(0.8) benign(0.012) 4/25 hmmpanther:PTHR43905,hmmpanther:PTHR43905:SF3 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAT . . 0.3119 0.3412 0.226 0.3535 0.1605 0.3398 0.3628 0.3216 0.2621 99819730 NRGN . GRCh38 chr11 124745584 124745584 + Missense_Mutation SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.97A>C p.Ile33Leu p.I33L ENST00000284292 2/4 108 97 9 29 29 0 NRGN,missense_variant,p.Ile33Leu,ENST00000284292,NM_001126181.1,NM_006176.2;NRGN,missense_variant,p.Ile33Leu,ENST00000412681,;VSIG2,downstream_gene_variant,,ENST00000326621,NM_014312.3;VSIG2,downstream_gene_variant,,ENST00000403470,NM_001329920.1;AP000866.5,intron_variant,,ENST00000531241,; C ENSG00000154146 ENST00000284292 Transcript missense_variant 336/1306 97/237 33/78 I/L Atc/Ctc 1 1 NRGN HGNC HGNC:8000 protein_coding YES CCDS8451.1 ENSP00000284292 Q92686 A0A024R3M7 UPI0000054C7E NM_001126181.1,NM_006176.2 deleterious(0) probably_damaging(0.972) 2/4 PROSITE_profiles:PS50096,hmmpanther:PTHR10699,hmmpanther:PTHR10699:SF18,Pfam_domain:PF00612,Gene3D:4.10.270.10,SMART_domains:SM00015 MODERATE 1 SNV 1 PASS AAT . . 124745584 PRB4 . GRCh38 chr12 11308844 11308844 + Missense_Mutation SNP G G T novel 7316-1851 BS_RVFDSK8D G G c.139C>A p.Pro47Thr p.P47T ENST00000279575 3/4 93 69 11 26 24 0 PRB4,missense_variant,p.Pro47Thr,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Pro47Thr,ENST00000535904,;PRB4,missense_variant,p.Pro47Thr,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Pro47Thr,ENST00000445719,; T ENSG00000230657 ENST00000279575 Transcript missense_variant 176/916 139/744 47/247 P/T Ccc/Acc 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.38) benign(0.007) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GGC . . 11308844 PRB4 . GRCh38 chr12 11308864 11308864 + Missense_Mutation SNP C C G rs77336955 7316-1851 BS_RVFDSK8D C C c.119G>C p.Arg40Pro p.R40P ENST00000279575 3/4 107 84 17 19 19 0 PRB4,missense_variant,p.Arg40Pro,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Arg40Pro,ENST00000535904,;PRB4,missense_variant,p.Arg40Pro,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Arg40Pro,ENST00000445719,; G ENSG00000230657 ENST00000279575 Transcript missense_variant 156/916 119/744 40/247 R/P cGc/cCc rs77336955,COSM1732889,COSM125561 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.19) benign(0) 3/4 Pfam_domain:PF15240,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCG . . 1.313e-05 7.058e-05 1.884e-05 11308864 POTEG . GRCh38 chr14 19434005 19434005 + Missense_Mutation SNP C C A rs755496707 7316-1851 BS_RVFDSK8D C C c.285G>T p.Arg95Ser p.R95S ENST00000547848 1/11 132 106 6 27 27 0 POTEG,missense_variant,p.Arg95Ser,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Arg95Ser,ENST00000547722,;POTEG,missense_variant,p.Arg95Ser,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; A ENSG00000187537 ENST00000547848 Transcript missense_variant 337/2204 285/1527 95/508 R/S agG/agT rs755496707 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 tolerated_low_confidence(0.14) possibly_damaging(0.724) 1/11 Gene3D:1.25.40.20,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 MODERATE 1 SNV 1 PASS TCC . . 19434005 PARP2 . GRCh38 chr14 20354157 20354157 + Missense_Mutation SNP G G T rs1274255185 7316-1851 BS_RVFDSK8D G G c.712G>T p.Val238Leu p.V238L ENST00000250416 8/16 88 80 8 38 37 0 PARP2,missense_variant,p.Val238Leu,ENST00000527915,;PARP2,missense_variant,p.Val238Leu,ENST00000250416,NM_005484.3;PARP2,missense_variant,p.Val225Leu,ENST00000429687,NM_001042618.1;PARP2,upstream_gene_variant,,ENST00000539930,;PARP2,downstream_gene_variant,,ENST00000555140,;PARP2,3_prime_UTR_variant,,ENST00000529465,;PARP2,upstream_gene_variant,,ENST00000527384,;PARP2,downstream_gene_variant,,ENST00000528465,;PARP2,upstream_gene_variant,,ENST00000530598,;PARP2,upstream_gene_variant,,ENST00000532299,;PARP2,upstream_gene_variant,,ENST00000534664,; T ENSG00000129484 ENST00000250416 Transcript missense_variant 739/1886 712/1752 238/583 V/L Gta/Tta rs1274255185 1 1 PARP2 HGNC HGNC:272 protein_coding YES CCDS41910.1 ENSP00000250416 Q9UGN5 UPI0000035DCA NM_005484.3 tolerated(0.32) benign(0.077) 8/16 PROSITE_profiles:PS51060,cd01437,hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF60,Gene3D:1.20.142.10,Pfam_domain:PF02877,Superfamily_domains:SSF47587 MODERATE 1 SNV 1 PASS GGT . . 20354157 STRN3 . GRCh38 chr14 31026185 31026185 + Translation_Start_Site SNP T T G novel 7316-1851 BS_RVFDSK8D T T c.1A>C p.Met1? p.M1? ENST00000357479 1/18 102 83 13 17 17 0 STRN3,start_lost,p.Met1?,ENST00000355683,NM_014574.3;STRN3,start_lost,p.Met1?,ENST00000357479,NM_001083893.1;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.2;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,start_lost,p.Met1?,ENST00000555358,;,regulatory_region_variant,,ENSR00000067178,; G ENSG00000196792 ENST00000357479 Transcript start_lost 198/2799 1/2394 1/797 M/L Atg/Ctg 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 deleterious_low_confidence(0) benign(0.007) 1/18 hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,mobidb-lite HIGH SNV 5 PASS ATT . . 31026185 IGHV2-5 . GRCh38 chr14 106038147 106038147 + Missense_Mutation SNP G G A rs782348529 7316-1851 BS_RVFDSK8D G G c.113C>T p.Thr38Met p.T38M ENST00000390597 2/2 104 91 12 36 36 0 IGHV2-5,missense_variant,p.Thr38Met,ENST00000390597,;IGHVIII-5-1,downstream_gene_variant,,ENST00000523059,; A ENSG00000211937 ENST00000390597 Transcript missense_variant 133/378 113/358 38/119 T/M aCg/aTg rs782348529 1 -1 IGHV2-5 HGNC HGNC:5576 IG_V_gene YES ENSP00000375006 P01817 UPI00034F23B3 deleterious(0.01) benign(0.14) 2/2 MODERATE 1 SNV PASS CGT . . 0.0001029 0.0004774 6.435e-05 0.000367 106038147 CHST14 . GRCh38 chr15 40471251 40471251 + Missense_Mutation SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.38A>C p.Asn13Thr p.N13T ENST00000306243 1/1 101 86 8 28 28 0 CHST14,missense_variant,p.Asn13Thr,ENST00000306243,NM_130468.3;CHST14,missense_variant,p.Asn13Thr,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000416165,NM_014952.4;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000561234,NM_001301132.1;AC013356.2,upstream_gene_variant,,ENST00000559730,;,regulatory_region_variant,,ENSR00000075526,; C ENSG00000169105 ENST00000306243 Transcript missense_variant 254/3574 38/1131 13/376 N/T aAt/aCt 1 1 CHST14 HGNC HGNC:24464 protein_coding YES CCDS10059.1 ENSP00000307297 Q8NCH0 UPI000004616D NM_130468.3 tolerated_low_confidence(0.6) benign(0.006) 1/1 MODERATE SNV 1 PASS AAT . . 40471251 GOLGA6L10 . GRCh38 chr15 82345087 82345087 + Missense_Mutation SNP C C T rs77281226 7316-1851 BS_RVFDSK8D C C c.773G>A p.Arg258His p.R258H ENST00000610657 6/9 47 34 11 25 23 0 GOLGA6L10,missense_variant,p.Arg258His,ENST00000610657,NM_001164465.3;GOLGA6L10,splice_region_variant,,ENST00000619556,;GOLGA6L10,intron_variant,,ENST00000621197,;GOLGA6L10,downstream_gene_variant,,ENST00000558035,; T ENSG00000278662 ENST00000610657 Transcript missense_variant 873/1705 773/1569 258/522 R/H cGt/cAt rs77281226 1 -1 GOLGA6L10 HGNC HGNC:37228 protein_coding YES CCDS45325.2 ENSP00000479362 A6NI86 UPI0003EAF95A NM_001164465.3 tolerated(0.47) benign(0.042) 6/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF19,hmmpanther:PTHR23143:SF19,Low_complexity_(Seg):seg 0.9583 0.8956 0.9755 0.9812 0.9771 0.9877 MODERATE 1 SNV 2 PASS ACG . . 0.0001879 0.0009025 0.0008491 5.778e-05 0.0001727 82345087 CASKIN1 . GRCh38 chr16 2196431 2196431 + Translation_Start_Site SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.2T>G p.Met1? p.M1? ENST00000343516 1/20 55 42 12 11 11 0 CASKIN1,start_lost,p.Met1?,ENST00000343516,NM_020764.3;,regulatory_region_variant,,ENSR00000082453,; C ENSG00000167971 ENST00000343516 Transcript start_lost 95/5759 2/4296 1/1431 M/R aTg/aGg 1 -1 CASKIN1 HGNC HGNC:20879 protein_coding YES CCDS42103.1 ENSP00000345436 Q8WXD9 UPI0000073A3B NM_020764.3 deleterious(0) possibly_damaging(0.841) 1/20 Gene3D:1.25.40.20 HIGH 1 SNV 1 PASS CAT . . 2196431 CES1 . GRCh38 chr16 55811015 55811015 + Splice_Region SNP A A C rs2302722 7316-1851 BS_RVFDSK8D A A c.1087-5T>G ENST00000360526 70 64 6 26 24 0 CES1,splice_region_variant,,ENST00000360526,NM_001025195.1;CES1,splice_region_variant,,ENST00000361503,NM_001025194.1;CES1,splice_region_variant,,ENST00000422046,NM_001266.4;CES1,upstream_gene_variant,,ENST00000563241,;CES1,splice_region_variant,,ENST00000569260,;CES1,intron_variant,,ENST00000565568,; C ENSG00000198848 ENST00000360526 Transcript splice_region_variant,intron_variant rs2302722,COSM1742483 1 -1 CES1 HGNC HGNC:1863 protein_coding YES CCDS32450.1 ENSP00000353720 P23141 UPI000054B390 NM_001025195.1 9/13 0.1500 0.0666 0.1513 0.2044 0.168 0.1871 0,1 27662362 LOW 1 SNV 1 0,1 PASS AAA . . 0.1658 0.08307 0.1452 0.07384 0.2249 0.1299 0.1728 0.1436 0.1979 55811015 SMCHD1 . GRCh38 chr18 2656076 2656076 + Translation_Start_Site SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.1A>C p.Met1? p.M1? ENST00000320876 1/48 121 108 10 23 23 0 SMCHD1,start_lost,p.Met1?,ENST00000320876,NM_015295.2;AP005061.1,upstream_gene_variant,,ENST00000579647,;,regulatory_region_variant,,ENSR00000099936,;AP005061.1,upstream_gene_variant,,ENST00000583365,;,TF_binding_site_variant,,MA0095.2,; C ENSG00000101596 ENST00000320876 Transcript start_lost 339/8821 1/6018 1/2005 M/L Atg/Ctg 1 1 SMCHD1 HGNC HGNC:29090 protein_coding YES CCDS45822.1 ENSP00000326603 A6NHR9 UPI00001D7AAD NM_015295.2 deleterious_low_confidence(0) benign(0) 1/48 mobidb-lite HIGH SNV 5 1 PASS TAT . . 2656076 TXNDC2 . GRCh38 chr18 9887101 9887101 + Missense_Mutation SNP G G A rs878895865 7316-1851 BS_RVFDSK8D G G c.622G>A p.Asp208Asn p.D208N ENST00000306084 2/2 79 62 7 38 35 0 TXNDC2,missense_variant,p.Asp141Asn,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Asp208Asn,ENST00000611534,;TXNDC2,missense_variant,p.Asp208Asn,ENST00000306084,NM_001098529.1;TXNDC2,intron_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; A ENSG00000168454 ENST00000306084 Transcript missense_variant 821/1873 622/1662 208/553 D/N Gac/Aac rs878895865,COSM6304915,COSM6304914 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(0.23) possibly_damaging(0.61) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TGA . . 9887101 TXNDC2 . GRCh38 chr18 9887683 9887683 + Missense_Mutation SNP A A T novel 7316-1851 BS_RVFDSK8D A A c.1204A>T p.Ile402Phe p.I402F ENST00000306084 2/2 92 70 10 37 36 0 TXNDC2,missense_variant,p.Ile335Phe,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Ile387Phe,ENST00000611534,;TXNDC2,missense_variant,p.Ile402Phe,ENST00000306084,NM_001098529.1;TXNDC2,3_prime_UTR_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; T ENSG00000168454 ENST00000306084 Transcript missense_variant 1403/1873 1204/1662 402/553 I/F Att/Ttt 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(0.1) benign(0.212) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 MODERATE 1 SNV 1 PASS GAT . . 9887683 MUC16 . GRCh38 chr19 8937657 8937657 + Missense_Mutation SNP G G A rs753100571 7316-1851 BS_RVFDSK8D G G c.33298C>T p.Pro11100Ser p.P11100S ENST00000397910 5/84 81 72 6 35 33 0 MUC16,missense_variant,p.Pro11100Ser,ENST00000397910,NM_024690.2; A ENSG00000181143 ENST00000397910 Transcript missense_variant 33502/43816 33298/43524 11100/14507 P/S Cct/Tct rs753100571 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0.013) 5/84 hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 MODERATE 1 SNV 5 1 PASS GGG . . 1.22e-05 6.547e-05 1.793e-05 8937657 MUC16 . GRCh38 chr19 8937672 8937672 + Missense_Mutation SNP A A G rs1194264488 7316-1851 BS_RVFDSK8D A A c.33283T>C p.Ser11095Pro p.S11095P ENST00000397910 5/84 81 73 6 38 36 0 MUC16,missense_variant,p.Ser11095Pro,ENST00000397910,NM_024690.2; G ENSG00000181143 ENST00000397910 Transcript missense_variant 33487/43816 33283/43524 11095/14507 S/P Tca/Cca rs1194264488 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0) 5/84 hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 MODERATE 1 SNV 5 1 PASS GAT . . 8937672 ZNF283 . GRCh38 chr19 43848315 43848315 + Missense_Mutation SNP A A G 7316-1851 BS_RVFDSK8D A A c.1714A>G p.Lys572Glu p.K572E ENST00000618787 7/7 90 73 6 41 40 0 ZNF283,missense_variant,p.Lys572Glu,ENST00000618787,NM_181845.1;ZNF283,missense_variant,p.Lys433Glu,ENST00000588797,NM_001297752.1;ZNF283,missense_variant,p.Lys572Glu,ENST00000324461,; G ENSG00000167637 ENST00000618787 Transcript missense_variant 2011/5713 1714/2040 572/679 K/E Aaa/Gaa COSM6211997 1 1 ZNF283 HGNC HGNC:13077 protein_coding YES CCDS46097.1 ENSP00000484852 Q8N7M2 UPI000155B91C NM_181845.1 tolerated(1) benign(0.014) 7/7 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377:SF142,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS CAA . . 43848315 LILRA6 . GRCh38 chr19 54242117 54242117 + Missense_Mutation SNP T T C rs11673178 7316-1851 BS_RVFDSK8D T T c.264A>G p.Ile88Met p.I88M ENST00000396365 3/8 85 55 30 18 18 0 LILRA6,missense_variant,p.Ile88Met,ENST00000396365,NM_024318.3;LILRA6,missense_variant,p.Ile88Met,ENST00000245621,;LILRA6,missense_variant,p.Ile88Met,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000270464,;RPS9,intron_variant,,ENST00000448962,;,regulatory_region_variant,,ENSR00000111473,;AC245052.6,downstream_gene_variant,,ENST00000506567,; C ENSG00000244482 ENST00000396365 Transcript missense_variant 304/1890 264/1446 88/481 I/M atA/atG rs11673178 1 -1 LILRA6 HGNC HGNC:15495 protein_coding YES CCDS42610.1 ENSP00000379651 Q6PI73 U5XH19 UPI000292EF7A NM_024318.3 tolerated(1) benign(0.003) 3/8 Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05751 0.9199 0.9614 0.9467 0.755 0.9553 0.9785 MODERATE 1 SNV 1 PASS TTA . . 54242117 RUNX1 . GRCh38 chr21 34792308 34792308 + Missense_Mutation SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.1270T>G p.Ser424Ala p.S424A ENST00000300305 8/8 70 41 10 17 17 0 RUNX1,missense_variant,p.Ser397Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Ser424Ala,ENST00000300305,;RUNX1,missense_variant,p.Ser424Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser333Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1715/6222 1270/1443 424/480 S/A Tcg/Gcg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) possibly_damaging(0.453) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS GAG . . 34792308 MAPK11 . GRCh38 chr22 50270243 50270243 + Missense_Mutation SNP A A C novel 7316-1851 BS_RVFDSK8D A A c.50T>G p.Val17Gly p.V17G ENST00000330651 1/12 46 32 11 22 21 0 MAPK11,missense_variant,p.Val17Gly,ENST00000330651,NM_002751.6;PLXNB2,downstream_gene_variant,,ENST00000359337,NM_012401.3;PLXNB2,downstream_gene_variant,,ENST00000449103,;PLXNB2,downstream_gene_variant,,ENST00000610984,;MAPK11,intron_variant,,ENST00000495277,;MAPK11,missense_variant,p.Val17Gly,ENST00000417877,;MAPK11,missense_variant,p.Val17Gly,ENST00000395764,;PLXNB2,downstream_gene_variant,,ENST00000463165,;PLXNB2,downstream_gene_variant,,ENST00000479701,;PLXNB2,downstream_gene_variant,,ENST00000479818,;,regulatory_region_variant,,ENSR00000147702,; C ENSG00000185386 ENST00000330651 Transcript missense_variant 151/2431 50/1095 17/364 V/G gTg/gGg 1 -1 MAPK11 HGNC HGNC:6873 protein_coding YES CCDS14090.1 ENSP00000333685 Q15759 UPI000002AE12 NM_002751.6 tolerated(0.2) benign(0.015) 1/12 hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF109,Gene3D:3.30.200.20,Superfamily_domains:SSF56112,Prints_domain:PR01773 MODERATE 1 SNV 1 PASS CAC . . 50270243 ARMCX4 . GRCh38 chrX 101494050 101494050 + Missense_Mutation SNP G G A rs113417448 7316-1851 BS_RVFDSK8D G G c.5461G>A p.Ala1821Thr p.A1821T ENST00000423738 2/2 71 40 12 23 17 0 ARMCX4,missense_variant,p.Ala1821Thr,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; A ENSG00000196440 ENST00000423738 Transcript missense_variant 5663/7424 5461/6873 1821/2290 A/T Gct/Act rs113417448 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.28) benign(0.013) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GGC . . 0.000247 0.0006079 0.0002147 0.0001544 0.0002862 101494050 TEX13D . GRCh38 chrX 124334206 124334206 + Missense_Mutation SNP T T G rs1248850930 7316-1851 BS_RVFDSK8D T T c.1289T>G p.Ile430Ser p.I430S ENST00000632372 1/1 35 26 7 16 16 0 TEX13D,missense_variant,p.Ile430Ser,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; G ENSG00000282419 ENST00000632372 Transcript missense_variant 1547/4203 1289/2145 430/714 I/S aTc/aGc rs1248850930 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.89) benign(0.011) 1/1 MODERATE 1 SNV PASS ATC . . 124334206 TEX13D . GRCh38 chrX 124334213 124334213 + Missense_Mutation SNP G G C rs1199315517 7316-1851 BS_RVFDSK8D G G c.1296G>C p.Arg432Ser p.R432S ENST00000632372 1/1 34 25 7 16 15 0 TEX13D,missense_variant,p.Arg432Ser,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; C ENSG00000282419 ENST00000632372 Transcript missense_variant 1554/4203 1296/2145 432/714 R/S agG/agC rs1199315517 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.54) benign(0.011) 1/1 mobidb-lite MODERATE 1 SNV PASS GGT . . 124334213 ARID1A . GRCh38 chr1 26773691 26773693 + In_Frame_Del DEL GCA GCA - rs374564889 7316-2729 BS_TYCE05MW GCA GCA c.3999_4001del p.Gln1334del p.Q1334del ENST00000324856 16/20 65 49 5 29 24 0 ARID1A,inframe_deletion,p.Gln1334del,ENST00000324856,NM_006015.4;ARID1A,inframe_deletion,p.Gln952del,ENST00000636219,;ARID1A,inframe_deletion,p.Gln950del,ENST00000430799,;ARID1A,inframe_deletion,p.Gln951del,ENST00000374152,;ARID1A,inframe_deletion,p.Gln1334del,ENST00000457599,NM_139135.2;ARID1A,inframe_deletion,p.Gln950del,ENST00000615191,;ARID1A,non_coding_transcript_exon_variant,,ENST00000636794,;ARID1A,inframe_deletion,p.Gln104del,ENST00000466382,;ARID1A,non_coding_transcript_exon_variant,,ENST00000636072,;ARID1A,downstream_gene_variant,,ENST00000430291,;ARID1A,upstream_gene_variant,,ENST00000532781,;ARID1A,downstream_gene_variant,,ENST00000636110,;ARID1A,upstream_gene_variant,,ENST00000637788,; - ENSG00000117713 ENST00000324856 Transcript inframe_deletion 4349-4351/8583 3978-3980/6858 1326-1327/2285 PQ/P ccGCAg/ccg rs374564889,COSM298325 1 1 ARID1A HGNC HGNC:11110 protein_coding YES CCDS285.1 ENSP00000320485 O14497 UPI0000167B91 NM_006015.4 16/20 Gene3D:1.10.150.60,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,mobidb-lite,Low_complexity_(Seg):seg likely_benign 0,1 MODERATE 1 deletion 1 21 0,1 1 PASS CCGCAG . . 0.0001591 6.793e-05 3.051e-05 0.0002071 0.0001804 0.0002793 0.0002036 0.0003741 3.308e-05 26773690 ZNF678 . GRCh38 chr1 227655455 227655455 + Missense_Mutation SNP T T A rs1277783057 7316-2729 BS_TYCE05MW T T c.1205T>A p.Val402Glu p.V402E ENST00000343776 4/4 79 69 8 47 44 1 ZNF678,missense_variant,p.Val402Glu,ENST00000343776,;ZNF678,missense_variant,p.Val402Glu,ENST00000397097,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,NM_178549.3;ZNF678,downstream_gene_variant,,ENST00000465266,; A ENSG00000181450 ENST00000343776 Transcript missense_variant 1550/8556 1205/1578 402/525 V/E gTg/gAg rs1277783057,COSM1723409,COSM1723408 1 1 ZNF678 HGNC HGNC:28652 protein_coding YES ENSP00000344828 Q5SXM1 UPI000019862A tolerated(1) benign(0.007) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF714,hmmpanther:PTHR24377:SF714,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GTG . . 4.138e-06 3.327e-05 227655455 SIPA1L2 . GRCh38 chr1 232403470 232403471 + Frame_Shift_Ins INS - - TAATGATACG novel 7316-2729 BS_TYCE05MW - - c.4917_4918insCGTATCATTA p.Lys1640ArgfsTer181 p.K1640Rfs*181 ENST00000366630 20/22 71 59 5 40 39 0 SIPA1L2,frameshift_variant,p.Lys1640ArgfsTer181,ENST00000366630,;SIPA1L2,frameshift_variant,p.Lys1640ArgfsTer181,ENST00000262861,NM_020808.4;SIPA1L2,frameshift_variant,p.Lys696ArgfsTer181,ENST00000308942,;SIPA1L2,upstream_gene_variant,,ENST00000494056,;SIPA1L2,downstream_gene_variant,,ENST00000495863,; TAATGATACG ENSG00000116991 ENST00000366630 Transcript frameshift_variant 5276-5277/6690 4917-4918/5169 1639-1640/1722 -/RIIX -/CGTATCATTA 1 -1 SIPA1L2 HGNC HGNC:23800 protein_coding YES CCDS41474.1 ENSP00000355589 Q9P2F8 UPI00001D7D6A 20/22 hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7,Pfam_domain:PF11881 HIGH 1 insertion 5 PASS TTG . . 232403470 OR2T4 . GRCh38 chr1 248361836 248361836 + Missense_Mutation SNP C C T rs75096121 7316-2729 BS_TYCE05MW C C c.256C>T p.His86Tyr p.H86Y ENST00000366475 1/1 92 82 9 41 41 0 OR2T4,missense_variant,p.His86Tyr,ENST00000366475,NM_001004696.1;OR2T4,missense_variant,p.His58Tyr,ENST00000366473,; T ENSG00000196944 ENST00000366475 Transcript missense_variant 256/1047 256/1047 86/348 H/Y Cac/Tac rs75096121,COSM3746177 1 1 OR2T4 HGNC HGNC:15016 protein_coding YES CCDS31113.1 ENSP00000355431 Q8NH00 UPI000004B9CC NM_001004696.1 deleterious(0.03) benign(0.022) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF316,Superfamily_domains:SSF81321,cd15421 0.3075 0.3343 0.2392 0.3819 0.2207 0.3323 0,1 MODERATE 1 SNV 0,1 PASS CCA . . 0.1544 0.207 0.1462 0.105 0.2631 0.2036 0.1291 0.1109 0.1775 248361836 RNF4 . GRCh38 chr4 2470984 2470984 + Splice_Region DEL G G - rs1416736461 7316-2729 BS_TYCE05MW G G c.-280-3del ENST00000506706 61 39 11 25 23 0 RNF4,splice_region_variant,,ENST00000506706,NM_001185009.2;RNF4,intron_variant,,ENST00000314289,NM_002938.4;RNF4,intron_variant,,ENST00000502316,;RNF4,intron_variant,,ENST00000503659,;RNF4,intron_variant,,ENST00000504224,;RNF4,intron_variant,,ENST00000507247,;RNF4,intron_variant,,ENST00000509258,;RNF4,intron_variant,,ENST00000511859,;RNF4,intron_variant,,ENST00000541204,NM_001185010.2;RNF4,splice_region_variant,,ENST00000503123,;RNF4,intron_variant,,ENST00000509206,;RNF4,intron_variant,,ENST00000509388,;RNF4,intron_variant,,ENST00000511843,;RNF4,intron_variant,,ENST00000511892,;RNF4,intron_variant,,ENST00000513643,;RNF4,intron_variant,,ENST00000504782,;RNF4,intron_variant,,ENST00000507784,;RNF4,intron_variant,,ENST00000513284,;RNF4,intron_variant,,ENST00000513578,; - ENSG00000063978 ENST00000506706 Transcript splice_region_variant,intron_variant rs1416736461 1 1 RNF4 HGNC HGNC:10067 protein_coding CCDS47001.1 ENSP00000424076 P78317 UPI0000134379 NM_001185009.2 1/8 LOW 1 deletion 1 PASS TTGA . . 2470983 DGKB . GRCh38 chr7 14736198 14736198 + Splice_Region SNP G G C rs56288033 7316-2729 BS_TYCE05MW G G c.169-4C>G ENST00000403951 79 70 5 34 33 0 DGKB,splice_region_variant,,ENST00000399322,NM_004080.2,NM_001350723.1,NM_001350724.1,NM_001350722.1;DGKB,splice_region_variant,,ENST00000402815,;DGKB,splice_region_variant,,ENST00000403951,NM_001350705.1,NM_001350706.1,NM_001350707.1,NM_001350716.1,NM_001350723.1,NM_001350715.1,NM_001350709.1,NM_001350724.1,NM_001350722.1,NM_001350708.1,NM_001350712.1,NM_001350711.1,NM_001350714.1;DGKB,splice_region_variant,,ENST00000406247,NM_145695.2;DGKB,splice_region_variant,,ENST00000407950,;DGKB,splice_region_variant,,ENST00000437998,;DGKB,splice_region_variant,,ENST00000403963,;DGKB,splice_region_variant,,ENST00000463981,;DGKB,splice_region_variant,,ENST00000467449,;DGKB,upstream_gene_variant,,ENST00000471732,;DGKB,splice_region_variant,,ENST00000477401,; C ENSG00000136267 ENST00000403951 Transcript splice_region_variant,intron_variant rs56288033,COSM3950150,COSM3950149 1 -1 DGKB HGNC HGNC:2850 protein_coding YES CCDS47547.1 ENSP00000385780 Q9Y6T7 UPI0000033B9B NM_001350705.1,NM_001350706.1,NM_001350707.1,NM_001350716.1,NM_001350723.1,NM_001350715.1,NM_001350709.1,NM_001350724.1,NM_001350722.1,NM_001350708.1,NM_001350712.1,NM_001350711.1,NM_001350714.1 4/25 0,1,1 LOW 1 SNV 5 0,1,1 PASS GGA . . 0.02201 0.00208 0.02381 0.0297 0.0388 0.005024 0.03462 0.03333 0.03029 14736198 PUS7 . GRCh38 chr7 105482444 105482444 + Splice_Region SNP T T A rs551425888 7316-2729 BS_TYCE05MW T T c.921-4A>T ENST00000356362 82 71 9 39 32 1 PUS7,splice_region_variant,,ENST00000356362,NM_001318164.1,NM_001318163.1,NM_019042.4;PUS7,splice_region_variant,,ENST00000469408,;PUS7,splice_region_variant,,ENST00000481939,; A ENSG00000091127 ENST00000356362 Transcript splice_region_variant,intron_variant rs551425888,COSM6233600 1 -1 PUS7 HGNC HGNC:26033 protein_coding YES CCDS34725.1 ENSP00000348722 Q96PZ0 UPI00001D483E NM_001318164.1,NM_001318163.1,NM_019042.4 7/15 0.0006 0.0023 0,1 LOW 1 SNV 2 0,1 PASS TTA . . 0.0005181 0.0004843 0.0009666 0.00121 0.0005591 0.001106 0.0003155 0.0005528 0.0003052 105482444 ANGPTL5 . GRCh38 chr11 101895069 101895069 + Splice_Region DEL A A - rs758620120 7316-2729 BS_TYCE05MW A A c.662-5del ENST00000334289 75 67 5 49 42 0 ANGPTL5,splice_region_variant,,ENST00000334289,NM_178127.4;ANGPTL5,splice_region_variant,,ENST00000534527,; - ENSG00000187151 ENST00000334289 Transcript splice_region_variant,intron_variant rs758620120,COSM1638718 1 -1 ANGPTL5 HGNC HGNC:19705 protein_coding YES CCDS8312.1 ENSP00000335255 Q86XS5 UPI000015F945 NM_178127.4 7/8 0,1 LOW 1 deletion 1 0,1 PASS GTAA . . 8.89e-05 0.0001437 0.0003545 0.0001996 3.09e-05 0.0002356 101895068 DACH1 . GRCh38 chr13 71866312 71866314 + In_Frame_Del DEL CTG CTG - rs762670469 7316-2729 BS_TYCE05MW CTG CTG c.456_458del p.Ser163del p.S163del ENST00000613252 1/11 66 54 5 31 30 0 DACH1,inframe_deletion,p.Ser163del,ENST00000613252,NM_080759.5;DACH1,inframe_deletion,p.Ser163del,ENST00000611519,NM_080760.5;DACH1,inframe_deletion,p.Ser163del,ENST00000620444,NM_004392.6;DACH1,inframe_deletion,p.Ser163del,ENST00000619232,;,regulatory_region_variant,,ENSR00000063548,; - ENSG00000276644 ENST00000613252 Transcript inframe_deletion 879-881/5233 456-458/2121 152-153/706 SS/S agCAGt/agt rs762670469 1 -1 DACH1 HGNC HGNC:2663 protein_coding YES CCDS41899.1 ENSP00000482245 Q9UI36 UPI000007308B NM_080759.5 1/11 hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF14,mobidb-lite,Low_complexity_(Seg):seg 0.01316 0.01934 MODERATE 1 deletion 1 PASS TACTGC . . 0.001586 0.002097 0.001401 0.00155 0.002574 0.001266 0.001789 0.001425 0.0009434 71866311 MLH3 . GRCh38 chr14 75047900 75047901 + Frame_Shift_Ins INS - - T rs751465048 7316-2729 BS_TYCE05MW - - c.1755dup p.Glu586ArgfsTer3 p.E586Rfs*3 ENST00000355774 2/13 85 70 7 50 44 0 MLH3,frameshift_variant,p.Glu586ArgfsTer3,ENST00000355774,NM_001040108.1;MLH3,frameshift_variant,p.Glu586ArgfsTer3,ENST00000380968,NM_014381.2;MLH3,frameshift_variant,p.Glu586ArgfsTer3,ENST00000556740,;MLH3,frameshift_variant,p.Glu586ArgfsTer3,ENST00000556257,;MLH3,downstream_gene_variant,,ENST00000553263,;MLH3,upstream_gene_variant,,ENST00000553713,;MLH3,downstream_gene_variant,,ENST00000557648,;MLH3,upstream_gene_variant,,ENST00000555499,;MLH3,upstream_gene_variant,,ENST00000555671,;MLH3,upstream_gene_variant,,ENST00000555144,;MLH3,upstream_gene_variant,,ENST00000556453,; T ENSG00000119684 ENST00000355774 Transcript frameshift_variant 1971-1972/7896 1755-1756/4362 585-586/1453 -/X -/A rs751465048 1 -1 MLH3 HGNC HGNC:7128 protein_coding YES CCDS32123.1 ENSP00000348020 Q9UHC1 UPI00001AEEE0 NM_001040108.1 2/13 hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7 HIGH 1 insertion 5 1 PASS TCT . . 2.096e-05 6.239e-05 4.669e-05 1.832e-05 75047900 GOLGA6C . GRCh38 chr15 75270068 75270068 + Splice_Region SNP G G A rs368756943 7316-2729 BS_TYCE05MW G G c.1955-4G>A ENST00000300576 66 55 10 32 32 0 GOLGA6C,splice_region_variant,,ENST00000300576,NM_001164404.1;RN7SL489P,downstream_gene_variant,,ENST00000486185,; A ENSG00000167195 ENST00000300576 Transcript splice_region_variant,intron_variant rs368756943,COSM3956920 1 1 GOLGA6C HGNC HGNC:32206 protein_coding YES CCDS58388.1 ENSP00000300576 A6NDK9 UPI00001AECE1 NM_001164404.1 17/17 0.0246 0.0106 0.0317 0.0069 0.0547 0.0256 0,1 LOW 1 SNV 1 0,1 PASS CGA . . 0.03235 0.01029 0.01527 0.02152 0.0005315 0.07586 0.04486 0.03335 0.01054 75270068 IRX6 . GRCh38 chr16 55328762 55328764 + In_Frame_Del DEL GAG GAG - rs765872249 7316-2729 BS_TYCE05MW GAG GAG c.801_803del p.Glu268del p.E268del ENST00000290552 5/6 63 53 5 28 27 0 IRX6,inframe_deletion,p.Glu268del,ENST00000290552,NM_024335.2;AC109462.2,upstream_gene_variant,,ENST00000573934,;AC109462.1,intron_variant,,ENST00000558730,;IRX6,downstream_gene_variant,,ENST00000558315,; - ENSG00000159387 ENST00000290552 Transcript inframe_deletion 2116-2118/3128 784-786/1341 262/446 E/- GAG/- rs765872249,COSM1724777 1 1 IRX6 HGNC HGNC:14675 protein_coding YES CCDS32449.1 ENSP00000290552 P78412 UPI00001C0A88 NM_024335.2 5/6 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11211:SF11,hmmpanther:PTHR11211 0,1 MODERATE 1 deletion 1 17 0,1 PASS AAGAGG . . 0.0005375 7.517e-05 0.0004131 7.001e-05 0.002693 0.000424 0.0002287 55328761 SULF2 . GRCh38 chr20 47684561 47684561 + Missense_Mutation SNP G G A rs761845915 7316-2729 BS_TYCE05MW G G c.758C>T p.Ala253Val p.A253V ENST00000359930 6/21 70 51 18 44 44 0 SULF2,missense_variant,p.Ala253Val,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Ala253Val,ENST00000484875,NM_001161841.1;SULF2,missense_variant,p.Ala253Val,ENST00000467815,NM_198596.2;AL354813.1,non_coding_transcript_exon_variant,,ENST00000526566,;SULF2,non_coding_transcript_exon_variant,,ENST00000474450,;SULF2,downstream_gene_variant,,ENST00000463221,; A ENSG00000196562 ENST00000359930 Transcript missense_variant 1610/4915 758/2613 253/870 A/V gCg/gTg rs761845915 1 -1 SULF2 HGNC HGNC:20392 protein_coding YES CCDS13408.1 ENSP00000353007 Q8IWU5 UPI000003FFBA NM_018837.3 deleterious(0) probably_damaging(0.961) 6/21 cd16147,hmmpanther:PTHR43108,hmmpanther:PTHR43108:SF7,PIRSF_domain:PIRSF036665,Gene3D:3.40.720.10,Pfam_domain:PF00884 MODERATE 1 SNV 1 PASS CGC . . 2.04e-05 5.972e-05 9.014e-06 0.0003667 47684561 ZDHHC15 . GRCh38 chrX 75431525 75431525 + Splice_Region DEL A A - rs751518520 7316-2729 BS_TYCE05MW A A c.380-5del ENST00000373367 31 16 6 22 20 0 ZDHHC15,splice_region_variant,,ENST00000373367,NM_144969.2;ZDHHC15,splice_region_variant,,ENST00000541184,NM_001146256.1; - ENSG00000102383 ENST00000373367 Transcript splice_region_variant,intron_variant rs751518520,TMP_ESP_X_74651360_74651360,COSM5496788 1 -1 ZDHHC15 HGNC HGNC:20342 protein_coding YES CCDS14430.1 ENSP00000362465 Q96MV8 UPI000006DB5A NM_144969.2 4/11 0.01129 0.01789 0,0,1 LOW 1 deletion 1 0,0,1 1 PASS ATAA . . 0.04319 0.02685 0.07638 0.07124 0.04385 0.01142 0.03177 0.06914 0.1159 75431524 UTY . GRCh38 chrY 13336337 13336338 + Splice_Region INS - - A rs764762744 7316-2729 BS_TYCE05MW - - c.2062-3dup ENST00000545955 41 26 9 17 16 0 UTY,splice_region_variant,,ENST00000329134,NM_182660.1;UTY,splice_region_variant,,ENST00000331397,NM_001258259.1,NM_001258250.1,NM_007125.4,NM_001258267.1,NM_001258270.1,NM_001258257.1;UTY,splice_region_variant,,ENST00000362096,NM_182659.1;UTY,splice_region_variant,,ENST00000382896,NM_001258264.1,NM_001258255.1,NM_001258268.1,NM_001258252.1;UTY,splice_region_variant,,ENST00000537580,NM_001258256.1,NM_001258263.1;UTY,splice_region_variant,,ENST00000538878,NM_001258253.1,NM_001258251.1;UTY,splice_region_variant,,ENST00000540140,NM_001258261.1;UTY,splice_region_variant,,ENST00000545955,NM_001258249.1,NM_001258269.1,NM_001258262.1;UTY,splice_region_variant,,ENST00000612274,NM_001258266.1;UTY,splice_region_variant,,ENST00000617789,NM_001258260.1,NM_001258258.1;UTY,splice_region_variant,,ENST00000618474,NM_001258265.1;UTY,splice_region_variant,,ENST00000624098,NM_001258254.1; A ENSG00000183878 ENST00000545955 Transcript splice_region_variant,intron_variant rs764762744 1 -1 UTY HGNC HGNC:12638 protein_coding YES CCDS76079.1 ENSP00000442047 F5H8B4 UPI00025909B7 NM_001258249.1,NM_001258269.1,NM_001258262.1 17/29 0.0016 LOW 1 insertion 1 PASS CTA . . 0.0001634 0.001194 13336337 KIF1B . GRCh38 chr1 10320089 10320089 + Missense_Mutation SNP G G C 7316-936 BS_9A5CF1QE G G c.2024G>C p.Arg675Pro p.R675P ENST00000263934 21/47 77 63 13 42 42 0 KIF1B,missense_variant,p.Arg721Pro,ENST00000377086,;KIF1B,missense_variant,p.Arg721Pro,ENST00000377081,;KIF1B,missense_variant,p.Arg707Pro,ENST00000620295,;KIF1B,missense_variant,p.Arg695Pro,ENST00000622724,;KIF1B,missense_variant,p.Arg675Pro,ENST00000263934,NM_015074.3; C ENSG00000054523 ENST00000263934 Transcript missense_variant 2177/6816 2024/5313 675/1770 R/P cGa/cCa COSM674554 1 1 KIF1B HGNC HGNC:16636 protein_coding YES CCDS111.1 ENSP00000263934 O60333 UPI000013EE7E NM_015074.3 deleterious(0.01) possibly_damaging(0.619) 21/47 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF328 1 MODERATE 1 SNV 1 1 1 PASS CGA . . 10320089 CITED4 . GRCh38 chr1 40861814 40861814 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.314A>C p.Asn105Thr p.N105T ENST00000372638 1/1 57 46 9 26 26 0 CITED4,missense_variant,p.Asn105Thr,ENST00000372638,NM_133467.2;AC119677.1,upstream_gene_variant,,ENST00000414199,;,regulatory_region_variant,,ENSR00000005267,; G ENSG00000179862 ENST00000372638 Transcript missense_variant 553/1316 314/555 105/184 N/T aAc/aCc 1 -1 CITED4 HGNC HGNC:18696 protein_coding YES CCDS458.1 ENSP00000361721 Q96RK1 UPI000004241F NM_133467.2 tolerated(0.16) benign(0.018) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR17045:SF5,hmmpanther:PTHR17045 MODERATE SNV PASS GTT . . 40861814 FOXO6 . GRCh38 chr1 41382524 41382524 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.1322T>G p.Met441Arg p.M441R ENST00000641094 3/3 69 56 10 30 30 0 FOXO6,missense_variant,p.Met441Arg,ENST00000641094,NM_001291281.2;FOXO6,non_coding_transcript_exon_variant,,ENST00000372591,;,regulatory_region_variant,,ENSR00000005332,; G ENSG00000204060 ENST00000641094 Transcript missense_variant 1322/1476 1322/1476 441/492 M/R aTg/aGg 1 1 FOXO6 HGNC HGNC:24814 protein_coding YES ENSP00000493184 A8MYZ6 UPI00015E0BB0 NM_001291281.2 deleterious(0.01) unknown(0) 3/3 Pfam_domain:PF16676,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF205 MODERATE 1 SNV PASS ATG . . 41382524 KLF18 . GRCh38 chr1 44140737 44140737 + Missense_Mutation SNP T T A novel 7316-936 BS_9A5CF1QE T T c.895A>T p.Ser299Cys p.S299C ENST00000634670 1/2 62 40 6 34 31 0 KLF18,missense_variant,p.Ser299Cys,ENST00000634670,NM_001358438.1; A ENSG00000283039 ENST00000634670 Transcript missense_variant 895/3159 895/3159 299/1052 S/C Agt/Tgt 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 deleterious(0.03) possibly_damaging(0.791) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE 1 SNV 5 PASS CTA . . 44140737 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 69 49 14 31 27 3 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 DMRTB1 . GRCh38 chr1 53459937 53459937 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.484T>G p.Phe162Val p.F162V ENST00000371445 1/4 75 67 7 44 43 0 DMRTB1,missense_variant,p.Phe162Val,ENST00000371445,NM_033067.2;DMRTB1,upstream_gene_variant,,ENST00000463126,; G ENSG00000143006 ENST00000371445 Transcript missense_variant 539/1910 484/1029 162/342 F/V Ttt/Gtt 1 1 DMRTB1 HGNC HGNC:13913 protein_coding YES CCDS581.1 ENSP00000360500 Q96MA1 UPI000006FF4C NM_033067.2 deleterious(0.04) benign(0.026) 1/4 hmmpanther:PTHR12322:SF66,hmmpanther:PTHR12322 MODERATE 1 SNV 1 PASS TTT . . 53459937 FLG2 . GRCh38 chr1 152351688 152351688 + Missense_Mutation SNP T T G rs755816906 7316-936 BS_9A5CF1QE T T c.6098A>C p.Tyr2033Ser p.Y2033S ENST00000388718 3/3 84 72 8 50 48 0 FLG2,missense_variant,p.Tyr2033Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 6171/9124 6098/7176 2033/2391 Y/S tAc/tCc rs755816906,COSM5843685 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487 0,1 MODERATE SNV 5 0,1 1 PASS GTA . . 1.626e-05 2.98e-05 8.968e-06 0.0001825 3.249e-05 152351688 IRF2BP2 . GRCh38 chr1 234608840 234608840 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.655A>C p.Thr219Pro p.T219P ENST00000366609 1/2 97 81 14 35 34 1 IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366609,NM_182972.2;IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366610,NM_001077397.1;AL160408.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;,regulatory_region_variant,,ENSR00000257385,; G ENSG00000168264 ENST00000366609 Transcript missense_variant 686/4663 655/1764 219/587 T/P Acc/Ccc 1 -1 IRF2BP2 HGNC HGNC:21729 protein_coding YES CCDS1602.1 ENSP00000355568 Q7Z5L9 UPI000004FA32 NM_182972.2 tolerated(0.33) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18 MODERATE 1 SNV 1 1 PASS GTT . . 234608840 PPM1G . GRCh38 chr2 27409308 27409308 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.115A>C p.Met39Leu p.M39L ENST00000344034 1/10 99 84 13 48 48 0 PPM1G,missense_variant,p.Met39Leu,ENST00000344034,NM_177983.2;PPM1G,non_coding_transcript_exon_variant,,ENST00000472077,;PPM1G,non_coding_transcript_exon_variant,,ENST00000484925,;,regulatory_region_variant,,ENSR00000114421,; G ENSG00000115241 ENST00000344034 Transcript missense_variant 380/2311 115/1641 39/546 M/L Atg/Ctg 1 -1 PPM1G HGNC HGNC:9278 protein_coding YES CCDS1752.1 ENSP00000342778 O15355 Q6IAU5 UPI000000106E NM_177983.2 tolerated(0.46) possibly_damaging(0.59) 1/10 Gene3D:3.60.40.10,Pfam_domain:PF00481,PROSITE_profiles:PS51746,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF544,SMART_domains:SM00332,Superfamily_domains:SSF81606,cd00143 MODERATE 1 SNV 1 PASS ATG . . 27409308 SIX3 . GRCh38 chr2 44942211 44942211 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.107A>C p.Asn36Thr p.N36T ENST00000260653 1/2 82 66 12 35 35 0 SIX3,missense_variant,p.Asn36Thr,ENST00000260653,NM_005413.3;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;LINC01833,upstream_gene_variant,,ENST00000437916,;LINC01833,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;RF02250,downstream_gene_variant,,ENST00000611000,;RF02251,downstream_gene_variant,,ENST00000620790,;RF02252,downstream_gene_variant,,ENST00000621512,;,regulatory_region_variant,,ENSR00000116339,; C ENSG00000138083 ENST00000260653 Transcript missense_variant 314/2523 107/999 36/332 N/T aAc/aCc 1 1 SIX3 HGNC HGNC:10889 protein_coding YES CCDS1821.1 ENSP00000260653 O95343 UPI00001359C4 NM_005413.3 tolerated_low_confidence(0.51) benign(0) 1/2 hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 44942211 TGOLN2 . GRCh38 chr2 85327484 85327484 + Missense_Mutation SNP T T C rs1331637733 7316-936 BS_9A5CF1QE T T c.248A>G p.Lys83Arg p.K83R ENST00000409232 2/4 92 76 9 38 37 0 TGOLN2,missense_variant,p.Lys83Arg,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Lys83Arg,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Lys83Arg,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Lys83Arg,ENST00000409015,;TGOLN2,missense_variant,p.Lys83Arg,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Lys83Arg,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; C ENSG00000152291 ENST00000409232 Transcript missense_variant 310/2235 248/1362 83/453 K/R aAg/aGg rs1331637733,COSM4810921,COSM1293996 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(0.11) benign(0.007) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CTT . . 85327484 TGOLN2 . GRCh38 chr2 85327493 85327493 + Missense_Mutation SNP G G C rs1238981161 7316-936 BS_9A5CF1QE G G c.239C>G p.Thr80Ser p.T80S ENST00000409232 2/4 89 70 12 37 36 0 TGOLN2,missense_variant,p.Thr80Ser,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Thr80Ser,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000409015,;TGOLN2,missense_variant,p.Thr80Ser,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; C ENSG00000152291 ENST00000409232 Transcript missense_variant 301/2235 239/1362 80/453 T/S aCc/aGc rs1238981161,COSM6288195,COSM1722795 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(1) benign(0) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGT . . 85327493 TTN . GRCh38 chr2 178652735 178652735 + Splice_Region SNP T T A novel 7316-936 BS_9A5CF1QE T T c.38961A>T p.Val12987= p.V12987= ENST00000589042 201/363 66 54 7 47 46 0 TTN,splice_region_variant,p.Val12987=,ENST00000589042,NM_001267550.2;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,upstream_gene_variant,,ENST00000426232,;TTN,upstream_gene_variant,,ENST00000446966,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626117,; A ENSG00000155657 ENST00000589042 Transcript splice_region_variant,synonymous_variant 39186/109224 38961/107976 12987/35991 V gtA/gtT 1 -1 TTN HGNC HGNC:12403 protein_coding YES CCDS59435.1 ENSP00000467141 A0A0A0MTS7 UPI00046209C6 NM_001267550.2 201/363 hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF18,mobidb-lite,Low_complexity_(Seg):seg LOW 1 SNV 5 1 PASS GTA . . 178652735 SPEG . GRCh38 chr2 219448785 219448785 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.1627A>C p.Lys543Gln p.K543Q ENST00000312358 4/41 115 93 16 37 35 1 SPEG,missense_variant,p.Lys543Gln,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Lys439Gln,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000403148,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000452101,;,regulatory_region_variant,,ENSR00000130551,; C ENSG00000072195 ENST00000312358 Transcript missense_variant 1759/10782 1627/9804 543/3267 K/Q Aag/Cag 1 1 SPEG HGNC HGNC:16901 protein_coding YES CCDS42824.1 ENSP00000311684 Q15772 UPI000066D99E NM_005876.4 tolerated(0.07) benign(0.182) 4/41 hmmpanther:PTHR45065,mobidb-lite MODERATE 1 SNV 5 1 PASS CAA . . 219448785 CROCC2 . GRCh38 chr2 240918884 240918884 + Splice_Region SNP T T G novel 7316-936 BS_9A5CF1QE T T c.229+8T>G ENST00000443866 96 76 9 40 38 0 CROCC2,splice_region_variant,,ENST00000443866,NM_001351305.1; G ENSG00000226321 ENST00000443866 Transcript splice_region_variant,intron_variant 1 1 CROCC2 HGNC HGNC:51677 protein_coding YES ENSP00000397968 H7BZ55 UPI0004F2364A NM_001351305.1 2/31 LOW 1 SNV 5 PASS GTG . . 240918884 H1FOO . GRCh38 chr3 129547445 129547445 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.143T>G p.Val48Gly p.V48G ENST00000324382 2/5 83 63 8 41 41 0 H1FOO,missense_variant,p.Val48Gly,ENST00000324382,NM_153833.2;H1FOO,upstream_gene_variant,,ENST00000503977,NM_001308262.1; G ENSG00000178804 ENST00000324382 Transcript missense_variant 148/1067 143/1041 48/346 V/G gTg/gGg 1 1 H1FOO HGNC HGNC:18463 protein_coding YES CCDS3064.1 ENSP00000319799 Q8IZA3 UPI000007414E NM_153833.2 tolerated(0.33) benign(0.005) 2/5 Gene3D:1.10.10.10,hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF42,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 129547445 ATP11B . GRCh38 chr3 182793760 182793760 + Translation_Start_Site SNP A A C novel 7316-936 BS_9A5CF1QE A A c.1A>C p.Met1? p.M1? ENST00000323116 1/30 79 61 15 34 34 0 ATP11B,start_lost,p.Met1?,ENST00000323116,NM_014616.2;ATP11B,start_lost,p.Met1?,ENST00000493826,;AC069431.1,upstream_gene_variant,,ENST00000488882,;,regulatory_region_variant,,ENSR00000162738,; C ENSG00000058063 ENST00000323116 Transcript start_lost 261/7325 1/3534 1/1177 M/L Atg/Ctg 1 1 ATP11B HGNC HGNC:13553 protein_coding YES CCDS33896.1 ENSP00000321195 Q9Y2G3 UPI000004124E NM_014616.2 tolerated_low_confidence(0.11) benign(0.267) 1/30 HIGH 1 SNV 2 PASS AAT . . 182793760 XXYLT1 . GRCh38 chr3 195270940 195270940 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.119A>C p.Tyr40Ser p.Y40S ENST00000310380 1/4 109 94 9 37 36 0 XXYLT1,missense_variant,p.Tyr40Ser,ENST00000310380,NM_152531.4;ACAP2,downstream_gene_variant,,ENST00000326793,NM_012287.5;XXYLT1,upstream_gene_variant,,ENST00000455281,;,regulatory_region_variant,,ENSR00000164259,; G ENSG00000173950 ENST00000310380 Transcript missense_variant 228/2727 119/1182 40/393 Y/S tAc/tCc 1 -1 XXYLT1 HGNC HGNC:26639 protein_coding YES CCDS43188.1 ENSP00000309640 Q8NBI6 UPI000003B10F NM_152531.4 deleterious(0.03) benign(0.444) 1/4 Transmembrane_helices:TMhelix,hmmpanther:PTHR12270:SF17,hmmpanther:PTHR12270 MODERATE 1 SNV 1 PASS GTA . . 195270940 MUC4 . GRCh38 chr3 195781316 195781316 + Missense_Mutation SNP C C A novel 7316-936 BS_9A5CF1QE C C c.10264G>T p.Ala3422Ser p.A3422S ENST00000463781 2/25 61 46 8 26 25 0 MUC4,missense_variant,p.Ala3422Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3422Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3422Ser,ENST00000478156,;MUC4,missense_variant,p.Ala3422Ser,ENST00000466475,;MUC4,missense_variant,p.Ala3422Ser,ENST00000477756,;MUC4,missense_variant,p.Ala3422Ser,ENST00000477086,;MUC4,missense_variant,p.Ala3422Ser,ENST00000480843,;MUC4,missense_variant,p.Ala3422Ser,ENST00000462323,;MUC4,missense_variant,p.Ala3422Ser,ENST00000470451,;MUC4,missense_variant,p.Ala3422Ser,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 10724/17110 10264/16239 3422/5412 A/S Gcc/Tcc 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.51) benign(0.374) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS GCG . . 195781316 ZNF732 . GRCh38 chr4 271563 271563 + Missense_Mutation SNP C C A rs1358664511 7316-936 BS_9A5CF1QE C C c.1294G>T p.Asp432Tyr p.D432Y ENST00000419098 4/4 103 86 11 26 26 0 ZNF732,missense_variant,p.Asp432Tyr,ENST00000419098,NM_001137608.1;ZNF732,missense_variant,p.Asp431Tyr,ENST00000619749,;AC079140.5,upstream_gene_variant,,ENST00000507882,;AC079140.3,upstream_gene_variant,,ENST00000511111,; A ENSG00000186777 ENST00000419098 Transcript missense_variant 1305/2193 1294/1758 432/585 D/Y Gac/Tac rs1358664511,COSM3133704 1 -1 ZNF732 HGNC HGNC:37138 protein_coding YES CCDS46990.1 ENSP00000415774 B4DXR9 UPI00017A8291 NM_001137608.1 tolerated(0.87) benign(0.352) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF81,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TCT . . 271563 KIAA0232 . GRCh38 chr4 6782843 6782843 + Splice_Site SNP T T G novel 7316-936 BS_9A5CF1QE T T c.-354+2T>G ENST00000307659 89 71 10 42 42 0 KIAA0232,splice_donor_variant,,ENST00000307659,NM_014743.2;KIAA0232,splice_donor_variant,,ENST00000425103,NM_001100590.1;KIAA0232,splice_donor_variant,,ENST00000508423,;KIAA0232,intron_variant,,ENST00000503278,;,regulatory_region_variant,,ENSR00000165473,; G ENSG00000170871 ENST00000307659 Transcript splice_donor_variant 1 1 KIAA0232 HGNC HGNC:28992 protein_coding YES CCDS43209.1 ENSP00000303928 Q92628 UPI000013EC3F NM_014743.2 1/9 HIGH 1 SNV 1 PASS GTA . . 6782843 PCDH7 . GRCh38 chr4 30722039 30722039 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.617A>C p.Tyr206Ser p.Y206S ENST00000543491 1/1 87 70 12 41 40 1 PCDH7,missense_variant,p.Tyr206Ser,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Tyr206Ser,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,upstream_gene_variant,,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000507864,;,regulatory_region_variant,,ENSR00000167180,; C ENSG00000169851 ENST00000543491 Transcript missense_variant 1187/4457 617/3219 206/1072 Y/S tAc/tCc 1 1 PCDH7 HGNC HGNC:8659 protein_coding YES CCDS75116.1 ENSP00000441802 O60245 UPI00001615DB NM_032456.2 tolerated(0.4) benign(0.025) 1/1 mobidb-lite,cd11304,Gene3D:2.60.40.60,SMART_domains:SM00112,PROSITE_profiles:PS50268,hmmpanther:PTHR43912,hmmpanther:PTHR43912:SF8 MODERATE 1 SNV PASS TAC . . 30722039 AMBN . GRCh38 chr4 70602633 70602633 + Missense_Mutation SNP G G T novel 7316-936 BS_9A5CF1QE G G c.541G>T p.Val181Leu p.V181L ENST00000322937 7/13 73 65 6 39 39 0 AMBN,missense_variant,p.Val181Leu,ENST00000322937,NM_016519.5;AMBN,missense_variant,p.Val180Leu,ENST00000613447,;AMBN,missense_variant,p.Val166Leu,ENST00000449493,; T ENSG00000178522 ENST00000322937 Transcript missense_variant 644/2005 541/1344 181/447 V/L Gta/Tta 1 1 AMBN HGNC HGNC:452 protein_coding YES CCDS3543.1 ENSP00000313809 Q9NP70 Q546D7 UPI000000DCCB NM_016519.5 tolerated(1) benign(0) 7/13 Pfam_domain:PF05111,hmmpanther:PTHR14115,SMART_domains:SM00817,mobidb-lite MODERATE 1 SNV 1 1 PASS AGT . . 70602633 SEC24B . GRCh38 chr4 109433915 109433915 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.46A>C p.Ile16Leu p.I16L ENST00000504968 1/25 91 78 7 38 38 0 SEC24B,missense_variant,p.Ile16Leu,ENST00000265175,NM_006323.4,NM_001318085.1;SEC24B,missense_variant,p.Ile16Leu,ENST00000504968,NM_001300813.2;SEC24B,missense_variant,p.Ile16Leu,ENST00000399100,NM_001318086.1,NM_001042734.3;SEC24B-AS1,upstream_gene_variant,,ENST00000499359,;SEC24B-AS1,upstream_gene_variant,,ENST00000505895,;SEC24B-AS1,upstream_gene_variant,,ENST00000510971,;,regulatory_region_variant,,ENSR00000171830,; C ENSG00000138802 ENST00000504968 Transcript missense_variant 144/4066 46/3897 16/1298 I/L Atc/Ctc 1 1 SEC24B HGNC HGNC:10704 protein_coding YES CCDS75179.1 ENSP00000428564 O95487 UPI000189A7A7 NM_001300813.2 tolerated_low_confidence(0.27) benign(0) 1/25 mobidb-lite MODERATE 1 SNV 1 PASS GAT . . 109433915 CTNND2 . GRCh38 chr5 11903852 11903852 + Translation_Start_Site SNP A A C novel 7316-936 BS_9A5CF1QE A A c.2T>G p.Met1? p.M1? ENST00000304623 1/22 79 66 9 37 37 0 CTNND2,start_lost,p.Met1?,ENST00000304623,NM_001332.3;CTNND2,upstream_gene_variant,,ENST00000502551,;CTNND2,upstream_gene_variant,,ENST00000508761,;CTNND2,non_coding_transcript_exon_variant,,ENST00000509868,;CTNND2,upstream_gene_variant,,ENST00000511278,;CTNND2,start_lost,p.Met1?,ENST00000513588,;CTNND2,start_lost,p.Met1?,ENST00000504499,;,regulatory_region_variant,,ENSR00000178193,; C ENSG00000169862 ENST00000304623 Transcript start_lost 192/5481 2/3678 1/1225 M/R aTg/aGg 1 -1 CTNND2 HGNC HGNC:2516 protein_coding YES CCDS3881.1 ENSP00000307134 Q9UQB3 UPI000013E9AB NM_001332.3 deleterious_low_confidence(0) benign(0.007) 1/22 mobidb-lite HIGH 1 SNV 1 1 PASS CAT . . 11903852 MAP3K1 . GRCh38 chr5 56881946 56881946 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.2746T>G p.Cys916Gly p.C916G ENST00000399503 14/20 77 68 9 41 40 0 MAP3K1,missense_variant,p.Cys916Gly,ENST00000399503,NM_005921.1;MAP3K1,upstream_gene_variant,,ENST00000469188,; G ENSG00000095015 ENST00000399503 Transcript missense_variant 2746/7011 2746/4539 916/1512 C/G Tgt/Ggt 1 1 MAP3K1 HGNC HGNC:6848 protein_coding YES CCDS43318.1 ENSP00000382423 Q13233 UPI000015153B NM_005921.1 tolerated_low_confidence(0.33) benign(0.01) 14/20 hmmpanther:PTHR24361:SF414,hmmpanther:PTHR24361 MODERATE 1 SNV 1 1 PASS ATG . . 56881946 BDP1 . GRCh38 chr5 71510013 71510013 + Missense_Mutation SNP C C A novel 7316-936 BS_9A5CF1QE C C c.2921C>A p.Thr974Asn p.T974N ENST00000358731 17/39 68 58 5 40 39 0 BDP1,missense_variant,p.Thr974Asn,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,; A ENSG00000145734 ENST00000358731 Transcript missense_variant 3184/11073 2921/7875 974/2624 T/N aCt/aAt 1 1 BDP1 HGNC HGNC:13652 protein_coding YES CCDS43328.1 ENSP00000351575 A6H8Y1 UPI000020CA90 NM_018429.2 tolerated(0.35) benign(0) 17/39 mobidb-lite,hmmpanther:PTHR22929 MODERATE 1 SNV 1 1 PASS ACT . . 71510013 PTCD2 . GRCh38 chr5 72320450 72320450 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.68T>G p.Ile23Ser p.I23S ENST00000380639 1/10 102 92 8 41 40 0 PTCD2,missense_variant,p.Ile23Ser,ENST00000380639,NM_024754.4;PTCD2,missense_variant,p.Ile23Ser,ENST00000503868,NM_001284403.1;PTCD2,5_prime_UTR_variant,,ENST00000543322,NM_001284405.1;PTCD2,5_prime_UTR_variant,,ENST00000536805,NM_001284404.1;PTCD2,5_prime_UTR_variant,,ENST00000510676,;MRPS27,upstream_gene_variant,,ENST00000261413,NM_015084.2;MRPS27,upstream_gene_variant,,ENST00000457646,NM_001286751.1;MRPS27,upstream_gene_variant,,ENST00000508863,;MRPS27,upstream_gene_variant,,ENST00000513900,NM_001286748.1;MRPS27,upstream_gene_variant,,ENST00000515404,;MRPS27,upstream_gene_variant,,ENST00000522095,;PTCD2,non_coding_transcript_exon_variant,,ENST00000493283,;MRPS27,non_coding_transcript_exon_variant,,ENST00000506957,;MRPS27,upstream_gene_variant,,ENST00000520285,;MRPS27,upstream_gene_variant,,ENST00000522404,;MRPS27,upstream_gene_variant,,ENST00000523654,;PTCD2,missense_variant,p.Ile23Ser,ENST00000486995,;PTCD2,missense_variant,p.Ile23Ser,ENST00000308077,;PTCD2,missense_variant,p.Ile18Ser,ENST00000503315,;PTCD2,missense_variant,p.Ile23Ser,ENST00000515198,;PTCD2,missense_variant,p.Ile23Ser,ENST00000511752,;,regulatory_region_variant,,ENSR00000182215,; G ENSG00000049883 ENST00000380639 Transcript missense_variant 84/11151 68/1167 23/388 I/S aTt/aGt 1 1 PTCD2 HGNC HGNC:25734 protein_coding YES CCDS4014.2 ENSP00000370013 Q8WV60 A0A024RAM6 UPI000066D9F8 NM_024754.4 tolerated(0.9) benign(0) 1/10 hmmpanther:PTHR14700 MODERATE SNV 5 PASS ATT . . 72320450 GPR150 . GRCh38 chr5 95620820 95620820 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.545T>G p.Val182Gly p.V182G ENST00000380007 1/1 89 74 13 41 41 0 GPR150,missense_variant,p.Val182Gly,ENST00000380007,NM_199243.1;,regulatory_region_variant,,ENSR00000184179,; G ENSG00000178015 ENST00000380007 Transcript missense_variant 743/2065 545/1305 182/434 V/G gTg/gGg 1 1 GPR150 HGNC HGNC:23628 protein_coding YES CCDS4074.1 ENSP00000369344 Q8NGU9 G4XH61 UPI000003BCD0 NM_199243.1 deleterious(0) probably_damaging(0.993) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF83,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15198 MODERATE 1 SNV PASS GTG . . 95620820 CAST . GRCh38 chr5 96662494 96662494 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.72T>G p.His24Gln p.H24Q ENST00000395812 1/30 98 76 20 47 47 0 CAST,missense_variant,p.His24Gln,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Gln,ENST00000508830,;CAST,missense_variant,p.His24Gln,ENST00000510756,;CAST,missense_variant,p.His24Gln,ENST00000511097,;CAST,missense_variant,p.His24Gln,ENST00000421689,;CAST,missense_variant,p.His7Gln,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; G ENSG00000153113 ENST00000395812 Transcript missense_variant 258/4506 72/2253 24/750 H/Q caT/caG 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 tolerated_low_confidence(1) benign(0) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS ATG . . 96662494 SOWAHA . GRCh38 chr5 132813623 132813623 + Translation_Start_Site SNP T T G novel 7316-936 BS_9A5CF1QE T T c.2T>G p.Met1? p.M1? ENST00000378693 1/1 105 91 11 41 41 0 SOWAHA,start_lost,p.Met1?,ENST00000378693,NM_175873.5;AC004775.1,downstream_gene_variant,,ENST00000607389,;,regulatory_region_variant,,ENSR00000186901,; G ENSG00000198944 ENST00000378693 Transcript start_lost 37/3211 2/1650 1/549 M/R aTg/aGg 1 1 SOWAHA HGNC HGNC:27033 protein_coding YES CCDS43361.1 ENSP00000367965 Q2M3V2 UPI000156802F NM_175873.5 possibly_damaging(0.737) 1/1 HIGH 1 SNV PASS ATG . . 132813623 ABCF1 . GRCh38 chr6 30578077 30578077 + Frame_Shift_Del DEL A A - rs751873821 7316-936 BS_9A5CF1QE A A c.227del p.Lys76SerfsTer60 p.K76Sfs*60 ENST00000326195 4/25 86 77 5 44 43 0 ABCF1,frameshift_variant,p.Lys76SerfsTer60,ENST00000326195,NM_001025091.1;ABCF1,frameshift_variant,p.Lys76SerfsTer60,ENST00000376545,NM_001090.2;ABCF1,frameshift_variant,p.Lys77SerfsTer60,ENST00000441867,;ABCF1,splice_region_variant,,ENST00000468958,;ABCF1,upstream_gene_variant,,ENST00000475993,;ABCF1,upstream_gene_variant,,ENST00000542772,; - ENSG00000204574 ENST00000326195 Transcript frameshift_variant,splice_region_variant 330/3481 218/2538 73/845 Q/X cAa/ca rs751873821,TMP_ESP_6_30545854_30545854,COSM1443031 1 1 ABCF1 HGNC HGNC:70 protein_coding YES CCDS34380.1 ENSP00000313603 Q8NE71 A0A1U9X609 UPI0000141876 NM_001025091.1 4/25 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF14,mobidb-lite,Low_complexity_(Seg):seg 0.09498 0.07681 0,0,1 HIGH 1 deletion 1 9 0,0,1 PASS GCAA . . 0.01842 0.007036 0.02217 0.015 0.01933 0.009575 0.0149 0.01901 0.04295 30578076 HLA-B . GRCh38 chr6 31356928 31356928 + Missense_Mutation SNP A A C rs1131170 7316-936 BS_9A5CF1QE A A c.103T>G p.Ser35Ala p.S35A ENST00000412585 2/8 69 60 9 22 22 0 HLA-B,missense_variant,p.Ser35Ala,ENST00000412585,NM_005514.7;HLA-B,missense_variant,p.Ser35Ala,ENST00000639848,;HLA-B,missense_variant,p.Ser46Ala,ENST00000434333,;HLA-B,upstream_gene_variant,,ENST00000640094,;HLA-B,upstream_gene_variant,,ENST00000640615,;MIR6891,upstream_gene_variant,,ENST00000618788,;HLA-B,non_coding_transcript_exon_variant,,ENST00000498007,;HLA-B,upstream_gene_variant,,ENST00000463574,;HLA-B,upstream_gene_variant,,ENST00000474381,;HLA-B,upstream_gene_variant,,ENST00000481849,;HLA-B,upstream_gene_variant,,ENST00000497377,;,regulatory_region_variant,,ENSR00000195527,;AL671883.2,non_coding_transcript_exon_variant,,ENST00000603274,; C ENSG00000234745 ENST00000412585 Transcript missense_variant 132/1547 103/1089 35/362 S/A Tcc/Gcc rs1131170,COSM3761869 1 -1 HLA-B HGNC HGNC:4932 protein_coding YES CCDS34394.1 ENSP00000399168 Q31610,Q31612,Q29836,P30486,P30480,P01889 E5FQ95 UPI0000000B17 NM_005514.7 tolerated_low_confidence(1) benign(0.001) 2/8 PDB-ENSP_mappings:3vcl.A,PDB-ENSP_mappings:4u1h.A,PDB-ENSP_mappings:4u1k.A,PDB-ENSP_mappings:4u1k.D,PDB-ENSP_mappings:5eo0.A,PDB-ENSP_mappings:5eo1.A,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF186 0.7201 0.6643 0.7312 0.675 0.7178 0.5781 0.5329 0,1 MODERATE 1 SNV 0,1 1 PASS GAG . . 0.6239 0.6737 0.5622 0.6373 0.7707 0.5787 0.5999 0.641 0.6862 31356928 HLA-DQA2 . GRCh38 chr6 32745994 32745994 + Missense_Mutation SNP T T C rs148720159 7316-936 BS_9A5CF1QE T T c.535T>C p.Phe179Leu p.F179L ENST00000374940 3/5 109 90 16 58 57 1 HLA-DQA2,missense_variant,p.Phe179Leu,ENST00000374940,NM_020056.4;MIR3135B,downstream_gene_variant,,ENST00000581098,; C ENSG00000237541 ENST00000374940 Transcript missense_variant 637/1524 535/768 179/255 F/L Ttc/Ctc rs148720159,COSM4594391 1 1 HLA-DQA2 HGNC HGNC:4943 protein_coding YES CCDS4753.1 ENSP00000364076 P01906 Q76NI6 UPI0000001086 NM_020056.4 deleterious(0.03) benign(0.321) 3/5 Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF54,SMART_domains:SM00407,Superfamily_domains:SSF48726,cd05767 0,1 MODERATE 1 SNV 0,1 1 PASS CTT . . 0.0005445 0.0002214 0.0009613 0.0009659 0.0001993 6.997e-05 32745994 HLA-DQA2 . GRCh38 chr6 32746016 32746016 + Missense_Mutation SNP T T G rs62623408 7316-936 BS_9A5CF1QE T T c.557T>G p.Ile186Ser p.I186S ENST00000374940 3/5 103 82 18 53 52 1 HLA-DQA2,missense_variant,p.Ile186Ser,ENST00000374940,NM_020056.4;MIR3135B,downstream_gene_variant,,ENST00000581098,; G ENSG00000237541 ENST00000374940 Transcript missense_variant 659/1524 557/768 186/255 I/S aTt/aGt rs62623408,COSM4594393 1 1 HLA-DQA2 HGNC HGNC:4943 protein_coding YES CCDS4753.1 ENSP00000364076 P01906 Q76NI6 UPI0000001086 NM_020056.4 deleterious(0.02) benign(0.051) 3/5 Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF54,SMART_domains:SM00407,Superfamily_domains:SSF48726,cd05767 0,1 MODERATE 1 SNV 0,1 1 PASS ATT . . 0.0001422 0.0001111 0.0002405 0.0002366 7.091e-05 32746016 SRF . GRCh38 chr6 43171796 43171796 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.140A>C p.Asn47Thr p.N47T ENST00000265354 1/7 98 83 12 28 27 0 SRF,missense_variant,p.Asn47Thr,ENST00000265354,NM_001292001.1,NM_003131.3;,regulatory_region_variant,,ENSR00000197100,; C ENSG00000112658 ENST00000265354 Transcript missense_variant 498/4202 140/1527 47/508 N/T aAt/aCt 1 1 SRF HGNC HGNC:11291 protein_coding YES CCDS4889.1 ENSP00000265354 P11831 A0A024RD16 UPI0000135F3B NM_001292001.1,NM_003131.3 deleterious_low_confidence(0) benign(0.007) 1/7 mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 43171796 C6orf223 . GRCh38 chr6 44002818 44002818 + Missense_Mutation SNP T T G 7316-936 BS_9A5CF1QE T T c.421T>G p.Phe141Val p.F141V ENST00000336600 4/4 77 54 14 31 29 0 C6orf223,missense_variant,p.Phe141Val,ENST00000336600,NM_153246.5;C6orf223,missense_variant,p.Phe121Val,ENST00000442114,NM_001324369.1;C6orf223,3_prime_UTR_variant,,ENST00000439969,NM_001171992.2;AL109615.3,intron_variant,,ENST00000422059,;AL109615.3,intron_variant,,ENST00000607590,;C6orf223,non_coding_transcript_exon_variant,,ENST00000448947,;,regulatory_region_variant,,ENSR00000197240,; G ENSG00000181577 ENST00000336600 Transcript missense_variant 441/3581 421/729 141/242 F/V Ttc/Gtc COSM5038312 1 1 C6orf223 HGNC HGNC:28692 protein_coding YES CCDS34459.1 ENSP00000426159 Q8N319 UPI00001BDAC0 NM_153246.5 tolerated_low_confidence(0.44) benign(0.025) 4/4 mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS CTT . . 44002818 GPR6 . GRCh38 chr6 109979217 109979217 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.150A>C p.Glu50Asp p.E50D ENST00000414000 3/3 79 64 12 42 40 0 GPR6,missense_variant,p.Glu50Asp,ENST00000414000,NM_001286099.1;GPR6,missense_variant,p.Glu35Asp,ENST00000275169,NM_005284.4;,regulatory_region_variant,,ENSR00000322481,; C ENSG00000146360 ENST00000414000 Transcript missense_variant 444/1945 150/1134 50/377 E/D gaA/gaC 1 1 GPR6 HGNC HGNC:4515 protein_coding YES CCDS69172.1 ENSP00000406986 P46095 UPI0001AE72E0 NM_001286099.1 tolerated_low_confidence(0.05) benign(0.003) 3/3 hmmpanther:PTHR22750:SF19,hmmpanther:PTHR22750,Prints_domain:PR00649 MODERATE 1 SNV 2 PASS AAT . . 109979217 SOGA3 . GRCh38 chr6 127515684 127515684 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.931A>C p.Met311Leu p.M311L ENST00000525778 2/7 81 67 11 41 39 1 SOGA3,missense_variant,p.Met311Leu,ENST00000525778,NM_001012279.2;SOGA3,missense_variant,p.Met311Leu,ENST00000465909,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;AL096711.2,missense_variant,p.Met311Leu,ENST00000481848,;,regulatory_region_variant,,ENSR00000202443,; G ENSG00000214338 ENST00000525778 Transcript missense_variant 1677/4077 931/2844 311/947 M/L Atg/Ctg 1 -1 SOGA3 HGNC HGNC:21494 protein_coding YES CCDS43505.1 ENSP00000434570 Q5TF21 UPI0000419273 NM_001012279.2 tolerated_low_confidence(0.44) benign(0.01) 2/7 Gene3D:1.20.5.170,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATT . . 127515684 FAM120B . GRCh38 chr6 170318586 170318586 + Missense_Mutation SNP G G T rs200974766 7316-936 BS_9A5CF1QE G G c.1265G>T p.Arg422Leu p.R422L ENST00000537664 2/11 61 44 9 48 46 0 FAM120B,missense_variant,p.Arg399Leu,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Arg411Leu,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Arg422Leu,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; T ENSG00000112584 ENST00000537664 Transcript missense_variant 1350/3212 1265/2802 422/933 R/L cGa/cTa rs200974766,COSM3829703,COSM1621219 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(0.11) benign(0.001) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CGA . . 170318586 ZNF680 . GRCh38 chr7 64521298 64521298 + Nonsense_Mutation SNP T T A 7316-936 BS_9A5CF1QE T T c.1456A>T p.Arg486Ter p.R486* ENST00000309683 4/4 76 65 5 47 47 0 ZNF680,stop_gained,p.Arg486Ter,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,downstream_gene_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,; A ENSG00000173041 ENST00000309683 Transcript stop_gained 1608/3022 1456/1593 486/530 R/* Aga/Tga COSM6237887 1 -1 ZNF680 HGNC HGNC:26897 protein_coding YES CCDS34644.1 ENSP00000309330 Q8NEM1 UPI000019980A NM_178558.4 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF121,Superfamily_domains:SSF57667 1 HIGH 1 SNV 1 1 PASS CTA . . 64521298 ZNF680 . GRCh38 chr7 64521301 64521301 + Missense_Mutation SNP C C A 7316-936 BS_9A5CF1QE C C c.1453G>T p.Ala485Ser p.A485S ENST00000309683 4/4 77 61 10 46 46 0 ZNF680,missense_variant,p.Ala485Ser,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,downstream_gene_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,; A ENSG00000173041 ENST00000309683 Transcript missense_variant 1605/3022 1453/1593 485/530 A/S Gct/Tct COSM4842996 1 -1 ZNF680 HGNC HGNC:26897 protein_coding YES CCDS34644.1 ENSP00000309330 Q8NEM1 UPI000019980A NM_178558.4 tolerated(0.16) benign(0.05) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF121,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS GCA . . 64521301 MBLAC1 . GRCh38 chr7 100127610 100127610 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.215T>G p.Leu72Arg p.L72R ENST00000398075 2/2 93 77 13 27 25 0 MBLAC1,missense_variant,p.Leu72Arg,ENST00000398075,NM_203397.2;MBLAC1,missense_variant,p.Leu72Arg,ENST00000421390,;CNPY4,downstream_gene_variant,,ENST00000262932,NM_152755.1;CNPY4,downstream_gene_variant,,ENST00000483756,;AC073842.1,upstream_gene_variant,,ENST00000376482,;AC073842.2,upstream_gene_variant,,ENST00000494221,;CNPY4,downstream_gene_variant,,ENST00000480692,;CNPY4,downstream_gene_variant,,ENST00000462193,;,regulatory_region_variant,,ENSR00000215742,; G ENSG00000214309 ENST00000398075 Transcript missense_variant 614/1502 215/801 72/266 L/R cTg/cGg 1 1 MBLAC1 HGNC HGNC:22180 protein_coding YES CCDS43620.1 ENSP00000381150 A4D2B0 UPI000013FF40 NM_203397.2 deleterious_low_confidence(0) probably_damaging(0.979) 2/2 Gene3D:3.60.15.10,PDB-ENSP_mappings:4v0h.A,PDB-ENSP_mappings:4v0h.B,PDB-ENSP_mappings:4v0h.C,PDB-ENSP_mappings:4v0h.D,hmmpanther:PTHR23200,hmmpanther:PTHR23200:SF48,SMART_domains:SM00849,cd07711,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTG . . 100127610 PPP1R35 . GRCh38 chr7 100435903 100435903 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.396A>C p.Glu132Asp p.E132D ENST00000292330 2/4 113 94 16 39 38 0 PPP1R35,missense_variant,p.Glu132Asp,ENST00000292330,NM_145030.2;MEPCE,downstream_gene_variant,,ENST00000310512,NM_019606.5;MEPCE,downstream_gene_variant,,ENST00000414441,NM_001194991.1,NM_001194990.1,NM_001194992.1;AC092849.2,intron_variant,,ENST00000492523,;AC092849.1,upstream_gene_variant,,ENST00000475250,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000476185,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000487452,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000491407,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000470295,;MEPCE,downstream_gene_variant,,ENST00000479201,;MEPCE,downstream_gene_variant,,ENST00000497759,;,regulatory_region_variant,,ENSR00000215791,; G ENSG00000160813 ENST00000292330 Transcript missense_variant 587/1031 396/762 132/253 E/D gaA/gaC 1 -1 PPP1R35 HGNC HGNC:28320 protein_coding YES CCDS5694.1 ENSP00000292330 Q8TAP8 UPI000006D9DB NM_145030.2 tolerated(0.1) probably_damaging(0.986) 2/4 hmmpanther:PTHR28625,Pfam_domain:PF15503 MODERATE 1 SNV 1 PASS GTT . . 100435903 SSPO . GRCh38 chr7 149820866 149820877 + Splice_Site DEL TGCCCCACAGGG TGCCCCACAGGG - novel 7316-936 BS_9A5CF1QE TGCCCCACAGGG TGCCCCACAGGG c.12314-9_12316del p.X4105_splice ENST00000378016 85/107 123 95 28 43 43 0 SSPO,splice_acceptor_variant,,ENST00000378016,NM_198455.2;SSPO,splice_acceptor_variant,,ENST00000623373,;SSPO,upstream_gene_variant,,ENST00000461331,;SSPO,upstream_gene_variant,,ENST00000488835,;SSPO,upstream_gene_variant,,ENST00000492965,;SSPO,upstream_gene_variant,,ENST00000465639,;SSPO,upstream_gene_variant,,ENST00000472850,; - ENSG00000197558 ENST00000378016 Transcript splice_acceptor_variant,coding_sequence_variant,intron_variant ?-12315/15589 ?-12315/15453 ?-4105/5150 1 1 SSPO HGNC HGNC:21998 protein_coding YES ENSP00000485256 A2VEC9 UPI000514C5D0 NM_198455.2 85/107 84/106 HIGH 1 deletion 5 1 PASS CTTGCCCCACAGGGT . . 149820865 SPIDR . GRCh38 chr8 47260989 47260989 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.31A>C p.Lys11Gln p.K11Q ENST00000297423 1/20 87 75 8 41 40 0 SPIDR,missense_variant,p.Lys11Gln,ENST00000297423,NM_001080394.3;SPIDR,splice_region_variant,,ENST00000541342,NM_001282916.1;SPIDR,splice_region_variant,,ENST00000518074,NM_001282919.1;SPIDR,splice_region_variant,,ENST00000524006,;SPIDR,splice_region_variant,,ENST00000521550,;SPIDR,splice_region_variant,,ENST00000522900,;SPIDR,missense_variant,p.Lys11Gln,ENST00000522117,;SPIDR,missense_variant,p.Lys11Gln,ENST00000524126,;SPIDR,missense_variant,p.Lys11Gln,ENST00000519661,;SPIDR,missense_variant,p.Lys11Gln,ENST00000524033,;SPIDR,missense_variant,p.Lys11Gln,ENST00000517824,;SPIDR,missense_variant,p.Lys11Gln,ENST00000523814,;SPIDR,missense_variant,p.Lys11Gln,ENST00000522222,;SPIDR,splice_region_variant,,ENST00000524141,;,regulatory_region_variant,,ENSR00000224187,; C ENSG00000164808 ENST00000297423 Transcript missense_variant,splice_region_variant 415/3988 31/2748 11/915 K/Q Aag/Cag 1 1 SPIDR HGNC HGNC:28971 protein_coding YES CCDS43737.1 ENSP00000297423 Q14159 UPI0000253B92 NM_001080394.3 tolerated(0.21) probably_damaging(0.994) 1/20 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34347,Pfam_domain:PF14950 MODERATE 1 SNV 1 1 PASS TAA . . 47260989 SNTB1 . GRCh38 chr8 120548962 120548963 + Splice_Region DEL GA GA - rs138861807 7316-936 BS_9A5CF1QE GA GA c.1137-5_1137-4del ENST00000395601 72 57 6 43 35 0 SNTB1,splice_region_variant,,ENST00000395601,NM_021021.3;SNTB1,splice_region_variant,,ENST00000517992,; - ENSG00000172164 ENST00000395601 Transcript splice_region_variant,intron_variant rs138861807,TMP_ESP_8_121561202_121561203,COSM1724310 1 -1 SNTB1 HGNC HGNC:11168 protein_coding YES CCDS6334.1 ENSP00000378965 Q13884 UPI0000135B20 NM_021021.3 5/7 0.1120 0.143 0.0749 0.0863 0.0785 0.1575 0.2366 0.233 0,0,1 LOW 1 deletion 5 0,0,1 PASS TGGAG . . 0.0629 0.07164 0.07821 0.05832 0.08732 0.02858 0.05897 0.06786 0.07471 120548961 ADGRB1 . GRCh38 chr8 142542526 142542526 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.4292A>C p.Asn1431Thr p.N1431T ENST00000517894 28/31 54 47 6 21 20 0 ADGRB1,missense_variant,p.Asn1431Thr,ENST00000517894,;ADGRB1,missense_variant,p.Asn1428Thr,ENST00000643448,;ADGRB1,missense_variant,p.Asn1431Thr,ENST00000323289,NM_001702.2;ADGRB1,3_prime_UTR_variant,,ENST00000521208,;ADGRB1,upstream_gene_variant,,ENST00000518812,;ADGRB1,downstream_gene_variant,,ENST00000518820,; C ENSG00000181790 ENST00000517894 Transcript missense_variant 5186/6241 4292/4755 1431/1584 N/T aAt/aCt 1 1 ADGRB1 HGNC HGNC:943 protein_coding YES CCDS64985.1 ENSP00000430945 O14514 UPI00002109E8 tolerated(0.91) benign(0) 28/31 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AAT . . 142542526 CNTNAP3 . GRCh38 chr9 39078765 39078765 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.3598A>C p.Met1200Leu p.M1200L ENST00000297668 22/24 92 71 15 39 39 0 CNTNAP3,missense_variant,p.Met1200Leu,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Met1119Leu,ENST00000377656,;CNTNAP3,intron_variant,,ENST00000493965,;CNTNAP3,downstream_gene_variant,,ENST00000477002,;,regulatory_region_variant,,ENSR00000235026,; G ENSG00000106714 ENST00000297668 Transcript missense_variant 3672/5064 3598/3867 1200/1288 M/L Atg/Ctg 1 -1 CNTNAP3 HGNC HGNC:13834 protein_coding YES CCDS6616.1 ENSP00000297668 Q9BZ76 UPI000013E43B NM_033655.3 tolerated(1) benign(0) 22/24 PROSITE_profiles:PS50025,hmmpanther:PTHR43925,hmmpanther:PTHR43925:SF6 MODERATE 1 SNV 1 PASS ATA . . 39078765 GAS1 . GRCh38 chr9 86946778 86946778 + Translation_Start_Site SNP A A C novel 7316-936 BS_9A5CF1QE A A c.2T>G p.Met1? p.M1? ENST00000298743 1/1 78 62 14 46 45 1 GAS1,start_lost,p.Met1?,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;,regulatory_region_variant,,ENSR00000237164,; C ENSG00000180447 ENST00000298743 Transcript start_lost 412/2827 2/1038 1/345 M/R aTg/aGg 1 -1 GAS1 HGNC HGNC:4165 protein_coding YES CCDS6674.1 ENSP00000298743 P54826 UPI0000140B67 NM_002048.2 tolerated_low_confidence(0.07) benign(0.127) 1/1 Cleavage_site_(Signalp):SignalP-noTM HIGH SNV 1 PASS CAT . . 86946778 KIF12 . GRCh38 chr9 114098116 114098116 + Splice_Region SNP T T G novel 7316-936 BS_9A5CF1QE T T c.-41A>C ENST00000374118 2/16 95 73 13 39 38 0 KIF12,missense_variant,p.Gln125Pro,ENST00000640217,;KIF12,missense_variant,p.Gln120Pro,ENST00000468460,;KIF12,splice_region_variant,,ENST00000374118,NM_138424.1;KIF12,upstream_gene_variant,,ENST00000498016,;KIF12,splice_region_variant,,ENST00000639832,;KIF12,splice_region_variant,,ENST00000640553,;KIF12,upstream_gene_variant,,ENST00000473174,;KIF12,upstream_gene_variant,,ENST00000491059,; G ENSG00000136883 ENST00000374118 Transcript splice_region_variant,5_prime_UTR_variant 198/2001 1 -1 KIF12 HGNC HGNC:21495 protein_coding YES CCDS6801.1 ENSP00000363232 B1ALC3 UPI00000729C3 NM_138424.1 2/16 LOW 1 SNV 1 PASS CTG . . 114098116 PRKCQ . GRCh38 chr10 6580209 6580209 + Splice_Site SNP A A C novel 7316-936 BS_9A5CF1QE A A c.-10+2T>G ENST00000263125 94 79 12 48 48 0 PRKCQ,splice_donor_variant,,ENST00000263125,NM_001323265.1,NM_001282644.1,NM_006257.4,NM_001323267.1;PRKCQ,splice_donor_variant,,ENST00000397176,NM_001242413.2;PRKCQ,splice_donor_variant,,ENST00000539722,NM_001323266.1,NM_001282645.1;PRKCQ-AS1,upstream_gene_variant,,ENST00000414894,;PRKCQ-AS1,upstream_gene_variant,,ENST00000445427,;PRKCQ-AS1,upstream_gene_variant,,ENST00000449648,;PRKCQ-AS1,upstream_gene_variant,,ENST00000455810,;PRKCQ-AS1,upstream_gene_variant,,ENST00000607982,;PRKCQ-AS1,upstream_gene_variant,,ENST00000608526,;PRKCQ-AS1,upstream_gene_variant,,ENST00000613651,;PRKCQ-AS1,upstream_gene_variant,,ENST00000613985,;PRKCQ-AS1,upstream_gene_variant,,ENST00000615210,;PRKCQ-AS1,upstream_gene_variant,,ENST00000623015,;PRKCQ-AS1,upstream_gene_variant,,ENST00000623160,;PRKCQ-AS1,upstream_gene_variant,,ENST00000624678,;PRKCQ-AS1,upstream_gene_variant,,ENST00000624974,;PRKCQ-AS1,upstream_gene_variant,,ENST00000625102,;PRKCQ-AS1,upstream_gene_variant,,ENST00000625147,;,regulatory_region_variant,,ENSR00000024021,; C ENSG00000065675 ENST00000263125 Transcript splice_donor_variant 1 -1 PRKCQ HGNC HGNC:9410 protein_coding YES CCDS7079.1 ENSP00000263125 Q04759 UPI000012DF74 NM_001323265.1,NM_001282644.1,NM_006257.4,NM_001323267.1 1/17 HIGH 1 SNV 1 PASS TAC . . 6580209 MKI67 . GRCh38 chr10 128105203 128105203 + Missense_Mutation SNP G G C rs1480739731 7316-936 BS_9A5CF1QE G G c.6637C>G p.His2213Asp p.H2213D ENST00000368654 13/15 86 73 9 46 44 0 MKI67,missense_variant,p.His2213Asp,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.His1853Asp,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,; C ENSG00000148773 ENST00000368654 Transcript missense_variant 7013/12678 6637/9771 2213/3256 H/D Cat/Gat rs1480739731,COSM6713030 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 tolerated(0.74) benign(0) 13/15 hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,mobidb-lite 0,1 MODERATE 1 SNV 2 0,1 PASS TGA . . 128105203 TCERG1L . GRCh38 chr10 131311463 131311463 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.173T>G p.Val58Gly p.V58G ENST00000368642 1/12 64 55 7 43 40 0 TCERG1L,missense_variant,p.Val58Gly,ENST00000368642,NM_174937.3;,regulatory_region_variant,,ENSR00000035314,; C ENSG00000176769 ENST00000368642 Transcript missense_variant 259/2618 173/1761 58/586 V/G gTt/gGt 1 -1 TCERG1L HGNC HGNC:23533 protein_coding YES CCDS7662.2 ENSP00000357631 Q5VWI1 UPI00004589C8 NM_174937.3 tolerated_low_confidence(0.15) benign(0) 1/12 hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF5,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 131311463 STK32C . GRCh38 chr10 132307608 132307608 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.226A>C p.Thr76Pro p.T76P ENST00000298630 1/12 51 36 9 32 31 0 STK32C,missense_variant,p.Thr76Pro,ENST00000298630,NM_001318878.1,NM_173575.3;STK32C,intron_variant,,ENST00000368620,;STK32C,upstream_gene_variant,,ENST00000368622,NM_001318879.1;,regulatory_region_variant,,ENSR00000035385,; G ENSG00000165752 ENST00000298630 Transcript missense_variant 333/2086 226/1461 76/486 T/P Acc/Ccc 1 -1 STK32C HGNC HGNC:21332 protein_coding YES CCDS7666.1 ENSP00000298630 Q86UX6 A0A140VJW0 UPI0000192113 NM_001318878.1,NM_173575.3 tolerated(0.08) benign(0.084) 1/12 Gene3D:3.30.200.20,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF153 MODERATE 1 SNV 1 PASS GTG . . 132307608 KNDC1 . GRCh38 chr10 133167553 133167553 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.275A>C p.Asn92Thr p.N92T ENST00000304613 2/30 108 88 13 31 28 0 KNDC1,missense_variant,p.Asn92Thr,ENST00000304613,NM_152643.6;KNDC1,missense_variant,p.Asn27Thr,ENST00000368571,;KNDC1,non_coding_transcript_exon_variant,,ENST00000530127,;KNDC1,non_coding_transcript_exon_variant,,ENST00000478074,;KNDC1,non_coding_transcript_exon_variant,,ENST00000485110,; C ENSG00000171798 ENST00000304613 Transcript missense_variant 296/6793 275/5250 92/1749 N/T aAc/aCc 1 1 KNDC1 HGNC HGNC:29374 protein_coding YES CCDS7674.1 ENSP00000304437 Q76NI1 UPI00003529F7 NM_152643.6 deleterious(0.05) probably_damaging(0.991) 2/30 Gene3D:1.10.510.10,Pfam_domain:PF16474,PROSITE_profiles:PS51377,hmmpanther:PTHR21560,SMART_domains:SM00750 MODERATE 1 SNV 1 PASS AAC . . 133167553 PTGDR2 . GRCh38 chr11 60852637 60852637 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.1086A>C p.Glu362Asp p.E362D ENST00000332539 2/2 83 68 11 30 30 0 PTGDR2,missense_variant,p.Glu362Asp,ENST00000332539,NM_004778.2;CCDC86,downstream_gene_variant,,ENST00000227520,NM_024098.3;CCDC86,downstream_gene_variant,,ENST00000545580,;AP000777.3,upstream_gene_variant,,ENST00000538705,;CCDC86,downstream_gene_variant,,ENST00000535217,;,regulatory_region_variant,,ENSR00000040152,; G ENSG00000183134 ENST00000332539 Transcript missense_variant 1198/2895 1086/1188 362/395 E/D gaA/gaC 1 -1 PTGDR2 HGNC HGNC:4502 protein_coding YES CCDS7994.1 ENSP00000332812 Q9Y5Y4 UPI00001B011A NM_004778.2 tolerated_low_confidence(0.62) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR24229:SF8,hmmpanther:PTHR24229 MODERATE 1 SNV 1 PASS GTT . . 60852637 AHNAK . GRCh38 chr11 62526843 62526843 + Missense_Mutation SNP G G C rs1244943069 7316-936 BS_9A5CF1QE G G c.7574C>G p.Ala2525Gly p.A2525G ENST00000378024 5/5 80 72 7 36 35 0 AHNAK,missense_variant,p.Ala2525Gly,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; C ENSG00000124942 ENST00000378024 Transcript missense_variant 7849/18787 7574/17673 2525/5890 A/G gCa/gGa rs1244943069,COSM6281241,COSM6281240 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.48) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TGC . . 62526843 PACS1 . GRCh38 chr11 66070712 66070712 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.226A>C p.Met76Leu p.M76L ENST00000320580 1/24 88 73 9 33 33 0 PACS1,missense_variant,p.Met76Leu,ENST00000320580,NM_018026.3;SF3B2,downstream_gene_variant,,ENST00000322535,NM_006842.2;SF3B2,downstream_gene_variant,,ENST00000528302,;SF3B2,downstream_gene_variant,,ENST00000530981,;AP006287.2,upstream_gene_variant,,ENST00000529036,;PACS1,non_coding_transcript_exon_variant,,ENST00000527224,;SF3B2,downstream_gene_variant,,ENST00000534765,;,regulatory_region_variant,,ENSR00000040927,; C ENSG00000175115 ENST00000320580 Transcript missense_variant 259/4392 226/2892 76/963 M/L Atg/Ctg 1 1 PACS1 HGNC HGNC:30032 protein_coding YES CCDS8129.1 ENSP00000316454 Q6VY07 A0A024R5H6 UPI0000190973 NM_018026.3 tolerated_low_confidence(0.88) benign(0) 1/24 Low_complexity_(Seg):seg,hmmpanther:PTHR13280:SF16,hmmpanther:PTHR13280,Superfamily_domains:SSF81995 MODERATE 1 SNV 1 1 PASS CAT . . 66070712 FCHSD2 . GRCh38 chr11 73141858 73141858 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.20A>C p.Lys7Thr p.K7T ENST00000409418 1/20 80 65 13 32 31 0 FCHSD2,missense_variant,p.Lys7Thr,ENST00000409314,;FCHSD2,missense_variant,p.Lys7Thr,ENST00000409418,NM_014824.2;FCHSD2,splice_region_variant,,ENST00000311172,;FCHSD2,splice_region_variant,,ENST00000458644,;FCHSD2,upstream_gene_variant,,ENST00000409853,;FCHSD2,upstream_gene_variant,,ENST00000422375,;,regulatory_region_variant,,ENSR00000041813,; G ENSG00000137478 ENST00000409418 Transcript missense_variant,splice_region_variant 404/3154 20/2223 7/740 K/T aAg/aCg 1 -1 FCHSD2 HGNC HGNC:29114 protein_coding YES CCDS8218.2 ENSP00000386722 O94868 UPI0000251F08 NM_014824.2 deleterious(0) probably_damaging(0.932) 1/20 hmmpanther:PTHR15735,hmmpanther:PTHR15735:SF11 MODERATE 1 SNV 2 PASS CTT . . 73141858 ZBTB44 . GRCh38 chr11 130314371 130314371 + Splice_Region SNP T T G novel 7316-936 BS_9A5CF1QE T T c.-57+4A>C ENST00000397753 88 75 13 40 40 0 ZBTB44,splice_region_variant,,ENST00000357899,;ZBTB44,splice_region_variant,,ENST00000397753,NM_001301098.1;ZBTB44,splice_region_variant,,ENST00000525842,NM_014155.4;AP002986.1,upstream_gene_variant,,ENST00000532116,;AP002986.1,upstream_gene_variant,,ENST00000602310,;AP002986.1,upstream_gene_variant,,ENST00000602376,;RN7SL778P,downstream_gene_variant,,ENST00000607160,;ZBTB44,splice_region_variant,,ENST00000445008,;,regulatory_region_variant,,ENSR00000047087,; G ENSG00000196323 ENST00000397753 Transcript splice_region_variant,intron_variant 1 -1 ZBTB44 HGNC HGNC:25001 protein_coding YES CCDS73414.1 ENSP00000380861 H7BY22 UPI00001AED95 NM_001301098.1 1/9 LOW 1 SNV 5 PASS GTT . . 130314371 BHLHE41 . GRCh38 chr12 26122281 26122281 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.1234T>G p.Phe412Val p.F412V ENST00000242728 5/5 58 47 9 32 27 2 BHLHE41,missense_variant,p.Phe412Val,ENST00000242728,NM_030762.2;SSPN,intron_variant,,ENST00000538142,;AC022509.3,downstream_gene_variant,,ENST00000535914,;AC022509.3,downstream_gene_variant,,ENST00000545819,;SSPN,intron_variant,,ENST00000534829,;BHLHE41,downstream_gene_variant,,ENST00000394326,;BHLHE41,downstream_gene_variant,,ENST00000541271,;,regulatory_region_variant,,ENSR00000049963,; C ENSG00000123095 ENST00000242728 Transcript missense_variant 1582/3837 1234/1449 412/482 F/V Ttc/Gtc 1 -1 BHLHE41 HGNC HGNC:16617 protein_coding YES CCDS8706.1 ENSP00000242728 Q9C0J9 A0A024RAV8 UPI0000052B52 NM_030762.2 tolerated(0.11) probably_damaging(0.981) 5/5 hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF76 MODERATE 1 SNV 1 1 PASS AAC . . 26122281 ITGA7 . GRCh38 chr12 55695522 55695522 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.2015T>G p.Met672Arg p.M672R ENST00000553804 14/25 52 35 12 44 36 1 ITGA7,missense_variant,p.Met668Arg,ENST00000257879,NM_002206.2;ITGA7,missense_variant,p.Met662Arg,ENST00000347027,;ITGA7,missense_variant,p.Met672Arg,ENST00000553804,NM_001144996.1;ITGA7,missense_variant,p.Met712Arg,ENST00000555728,;ITGA7,missense_variant,p.Met575Arg,ENST00000452168,NM_001144997.1;ITGA7,downstream_gene_variant,,ENST00000557257,;ITGA7,missense_variant,p.Met88Arg,ENST00000554327,;ITGA7,non_coding_transcript_exon_variant,,ENST00000557058,;ITGA7,downstream_gene_variant,,ENST00000553276,;ITGA7,downstream_gene_variant,,ENST00000554543,;ITGA7,downstream_gene_variant,,ENST00000555687,;ITGA7,downstream_gene_variant,,ENST00000556273,;ITGA7,downstream_gene_variant,,ENST00000557488,; C ENSG00000135424 ENST00000553804 Transcript missense_variant,splice_region_variant 2034/3935 2015/3426 672/1141 M/R aTg/aGg 1 -1 ITGA7 HGNC HGNC:6143 protein_coding YES CCDS55832.1 ENSP00000452120 Q13683 UPI00003668CF NM_001144996.1 tolerated(0.31) benign(0.026) 14/25 Gene3D:2.60.40.1510,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF90,Superfamily_domains:SSF69179 MODERATE 1 SNV 1 1 PASS CAT . . 55695522 COQ10A . GRCh38 chr12 56267248 56267248 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.130A>C p.Met44Leu p.M44L ENST00000308197 1/5 82 66 10 43 43 0 COQ10A,missense_variant,p.Met44Leu,ENST00000308197,NM_144576.3;CS,downstream_gene_variant,,ENST00000351328,NM_004077.2;COQ10A,upstream_gene_variant,,ENST00000433805,NM_001099337.1;COQ10A,upstream_gene_variant,,ENST00000546544,;CS,downstream_gene_variant,,ENST00000548567,;CS,downstream_gene_variant,,ENST00000548746,;COQ10A,upstream_gene_variant,,ENST00000551814,;COQ10A,upstream_gene_variant,,ENST00000553234,;AC073896.5,downstream_gene_variant,,ENST00000546464,;COQ10A,non_coding_transcript_exon_variant,,ENST00000551911,;COQ10A,non_coding_transcript_exon_variant,,ENST00000551566,;COQ10A,upstream_gene_variant,,ENST00000546614,;CS,downstream_gene_variant,,ENST00000549143,;COQ10A,upstream_gene_variant,,ENST00000549545,;COQ10A,upstream_gene_variant,,ENST00000550071,;,regulatory_region_variant,,ENSR00000052497,; C ENSG00000135469 ENST00000308197 Transcript missense_variant 391/1652 130/744 44/247 M/L Atg/Ctg 1 1 COQ10A HGNC HGNC:26515 protein_coding YES CCDS41796.1 ENSP00000312587 Q96MF6 UPI000013CF99 NM_144576.3 tolerated(0.34) benign(0) 1/5 hmmpanther:PTHR12901,hmmpanther:PTHR12901:SF8 MODERATE 1 SNV 1 PASS AAT . . 56267248 SOCS2 . GRCh38 chr12 93572929 93572929 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.32A>C p.Asn11Thr p.N11T ENST00000622746 2/3 77 64 11 33 33 0 SOCS2,missense_variant,p.Asn11Thr,ENST00000548537,;SOCS2,missense_variant,p.Asn11Thr,ENST00000622746,NM_001270469.1,NM_001270470.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000340600,NM_001270471.1,NM_003877.4;SOCS2,missense_variant,p.Asn11Thr,ENST00000549122,;SOCS2,missense_variant,p.Asn11Thr,ENST00000549206,NM_001270467.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000551556,;SOCS2,missense_variant,p.Asn11Thr,ENST00000536696,NM_001270468.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000549887,;SOCS2,missense_variant,p.Asn11Thr,ENST00000548091,;SOCS2,downstream_gene_variant,,ENST00000547229,;SOCS2,upstream_gene_variant,,ENST00000549510,;SOCS2,upstream_gene_variant,,ENST00000551883,;SOCS2-AS1,upstream_gene_variant,,ENST00000499137,;SOCS2-AS1,upstream_gene_variant,,ENST00000500986,;SOCS2-AS1,upstream_gene_variant,,ENST00000551626,;,regulatory_region_variant,,ENSR00000055617,; C ENSG00000120833 ENST00000622746 Transcript missense_variant 751/2881 32/597 11/198 N/T aAt/aCt 1 1 SOCS2 HGNC HGNC:19382 protein_coding YES CCDS9047.1 ENSP00000481249 O14508 A0A024RBD2 UPI0000135B63 NM_001270469.1,NM_001270470.1 tolerated_low_confidence(0.07) benign(0) 2/3 hmmpanther:PTHR44396,hmmpanther:PTHR44396:SF2,mobidb-lite MODERATE SNV 3 PASS AAT . . 93572929 CHPT1 . GRCh38 chr12 101697862 101697862 + Translation_Start_Site SNP A A C novel 7316-936 BS_9A5CF1QE A A c.1A>C p.Met1? p.M1? ENST00000229266 1/9 91 83 8 39 39 0 CHPT1,start_lost,p.Met1?,ENST00000549872,;CHPT1,start_lost,p.Met1?,ENST00000229266,NM_020244.2;AC010205.1,upstream_gene_variant,,ENST00000616668,;CHPT1,intron_variant,,ENST00000550385,;CHPT1,start_lost,p.Met1?,ENST00000549128,;CHPT1,start_lost,p.Met1?,ENST00000552351,;CHPT1,non_coding_transcript_exon_variant,,ENST00000546490,;CHPT1,upstream_gene_variant,,ENST00000552215,;,regulatory_region_variant,,ENSR00000056299,; C ENSG00000111666 ENST00000229266 Transcript start_lost 236/1585 1/1221 1/406 M/L Atg/Ctg 1 1 CHPT1 HGNC HGNC:17852 protein_coding YES CCDS9086.1 ENSP00000229266 Q8WUD6 UPI000003ED2B NM_020244.2 tolerated_low_confidence(0.43) benign(0) 1/9 hmmpanther:PTHR10414:SF32,hmmpanther:PTHR10414 HIGH 1 SNV 1 PASS CAT . . 101697862 BTBD11 . GRCh38 chr12 107319511 107319511 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.571A>C p.Met191Leu p.M191L ENST00000280758 1/17 93 81 10 28 28 0 BTBD11,missense_variant,p.Met191Leu,ENST00000280758,NM_001018072.1;BTBD11,missense_variant,p.Met191Leu,ENST00000490090,;BTBD11,missense_variant,p.Met191Leu,ENST00000420571,;BTBD11,upstream_gene_variant,,ENST00000415943,;BTBD11,upstream_gene_variant,,ENST00000550706,;,regulatory_region_variant,,ENSR00000270059,; C ENSG00000151136 ENST00000280758 Transcript missense_variant 1099/5767 571/3315 191/1104 M/L Atg/Ctg 1 1 BTBD11 HGNC HGNC:23844 protein_coding YES CCDS31893.1 ENSP00000280758 A6QL63 UPI000051901E NM_001018072.1 deleterious(0.05) possibly_damaging(0.456) 1/17 Gene3D:1.10.20.10,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF76,Superfamily_domains:SSF47113,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAT . . 107319511 SPPL3 . GRCh38 chr12 120903866 120903866 + Translation_Start_Site SNP A A C novel 7316-936 BS_9A5CF1QE A A c.2T>G p.Met1? p.M1? ENST00000353487 1/11 95 74 11 32 32 0 SPPL3,start_lost,p.Met1?,ENST00000353487,NM_139015.4;SPPL3,upstream_gene_variant,,ENST00000536996,;SPPL3,upstream_gene_variant,,ENST00000543608,;SPPL3,upstream_gene_variant,,ENST00000543854,;,regulatory_region_variant,,ENSR00000058371,; C ENSG00000157837 ENST00000353487 Transcript start_lost 506/4148 2/1155 1/384 M/R aTg/aGg 1 -1 SPPL3 HGNC HGNC:30424 protein_coding YES CCDS9208.1 ENSP00000288680 Q8TCT6 UPI0000013590 NM_139015.4 deleterious_low_confidence(0) benign(0.006) 1/11 HIGH 1 SNV 1 PASS CAT . . 120903866 DACH1 . GRCh38 chr13 71866405 71866405 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.365T>G p.Ile122Ser p.I122S ENST00000613252 1/11 64 56 7 23 22 0 DACH1,missense_variant,p.Ile122Ser,ENST00000613252,NM_080759.5;DACH1,missense_variant,p.Ile122Ser,ENST00000611519,NM_080760.5;DACH1,missense_variant,p.Ile122Ser,ENST00000620444,NM_004392.6;DACH1,missense_variant,p.Ile122Ser,ENST00000619232,;,regulatory_region_variant,,ENSR00000063548,; C ENSG00000276644 ENST00000613252 Transcript missense_variant 788/5233 365/2121 122/706 I/S aTc/aGc 1 -1 DACH1 HGNC HGNC:2663 protein_coding YES CCDS41899.1 ENSP00000482245 Q9UI36 UPI000007308B NM_080759.5 deleterious_low_confidence(0) benign(0) 1/11 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAT . . 71866405 FOXG1 . GRCh38 chr14 28767713 28767713 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.434A>C p.Lys145Thr p.K145T ENST00000313071 1/1 51 33 15 43 42 0 FOXG1,missense_variant,p.Lys145Thr,ENST00000313071,NM_005249.4;LINC01551,upstream_gene_variant,,ENST00000399387,;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000637351,;FOXG1,downstream_gene_variant,,ENST00000637817,;,regulatory_region_variant,,ENSR00000067057,; C ENSG00000176165 ENST00000313071 Transcript missense_variant 2326/4890 434/1470 145/489 K/T aAg/aCg 1 1 FOXG1 HGNC HGNC:3811 protein_coding YES CCDS9636.1 ENSP00000339004 P55316 UPI00001AE46C NM_005249.4 tolerated_low_confidence(0.25) benign(0.19) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11829:SF316,hmmpanther:PTHR11829 MODERATE SNV 1 PASS AAG . . 28767713 STRN3 . GRCh38 chr14 31026082 31026082 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.104A>C p.Asn35Thr p.N35T ENST00000357479 1/18 111 94 14 45 45 0 STRN3,missense_variant,p.Asn35Thr,ENST00000355683,NM_014574.3;STRN3,missense_variant,p.Asn35Thr,ENST00000357479,NM_001083893.1;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.2;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,missense_variant,p.Asn35Thr,ENST00000555358,;,regulatory_region_variant,,ENSR00000067178,; G ENSG00000196792 ENST00000357479 Transcript missense_variant 301/2799 104/2394 35/797 N/T aAc/aCc 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 tolerated_low_confidence(0.88) benign(0) 1/18 hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS GTT . . 31026082 GOLGA6L7 . GRCh38 chr15 28842669 28842669 + Missense_Mutation SNP C C G rs1308414735 7316-936 BS_9A5CF1QE C C c.1435G>C p.Gly479Arg p.G479R ENST00000567390 9/9 73 59 7 33 33 0 GOLGA6L7,missense_variant,p.Gly479Arg,ENST00000567390,;PDCD6IPP2,intron_variant,,ENST00000564604,;PDCD6IPP2,intron_variant,,ENST00000566178,;PDCD6IPP2,downstream_gene_variant,,ENST00000563144,;GOLGA6L7,downstream_gene_variant,,ENST00000569815,; G ENSG00000261649 ENST00000567390 Transcript missense_variant 1561/2397 1435/1869 479/622 G/R Ggg/Cgg rs1308414735 1 -1 GOLGA6L7 HGNC HGNC:37442 protein_coding YES ENSP00000490318 A0A1B0GV03 UPI0007E52AB8 tolerated(0.87) unknown(0) 9/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CCC . . 28842669 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 84 51 18 32 31 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 CHST14 . GRCh38 chr15 40471250 40471250 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.37A>C p.Asn13His p.N13H ENST00000306243 1/1 78 62 11 31 30 0 CHST14,missense_variant,p.Asn13His,ENST00000306243,NM_130468.3;CHST14,missense_variant,p.Asn13His,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000416165,NM_014952.4;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000561234,NM_001301132.1;AC013356.2,upstream_gene_variant,,ENST00000559730,;,regulatory_region_variant,,ENSR00000075526,; C ENSG00000169105 ENST00000306243 Transcript missense_variant 253/3574 37/1131 13/376 N/H Aat/Cat 1 1 CHST14 HGNC HGNC:24464 protein_coding YES CCDS10059.1 ENSP00000307297 Q8NCH0 UPI000004616D NM_130468.3 tolerated_low_confidence(0.13) benign(0.043) 1/1 MODERATE SNV 1 PASS AAA . . 40471250 ACAN . GRCh38 chr15 88856906 88856906 + Missense_Mutation SNP A A G rs200437529 7316-936 BS_9A5CF1QE A A c.4321A>G p.Thr1441Ala p.T1441A ENST00000439576 12/18 60 41 8 31 30 0 ACAN,missense_variant,p.Thr1441Ala,ENST00000560601,;ACAN,missense_variant,p.Thr1441Ala,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Thr1422Ala,ENST00000617301,;ACAN,missense_variant,p.Thr1441Ala,ENST00000559004,;ACAN,missense_variant,p.Thr1441Ala,ENST00000561243,;ACAN,missense_variant,p.Thr1441Ala,ENST00000352105,NM_001135.3;,regulatory_region_variant,,ENSR00000278890,; G ENSG00000157766 ENST00000439576 Transcript missense_variant 4695/8840 4321/7593 1441/2530 T/A Act/Gct rs200437529,COSM1129069,COSM1129068 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 tolerated(0.44) benign(0.186) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS TAC . . 4.537e-05 0.0001333 8.987e-05 6.315e-05 88856906 SYNM . GRCh38 chr15 99105495 99105495 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.296A>C p.Asp99Ala p.D99A ENST00000336292 1/4 89 78 10 37 36 0 SYNM,missense_variant,p.Asp99Ala,ENST00000336292,NM_145728.2;SYNM,missense_variant,p.Asp99Ala,ENST00000594047,NM_015286.5;SYNM,missense_variant,p.Asp99Ala,ENST00000328642,;SYNM,intron_variant,,ENST00000560674,;AC036108.1,intron_variant,,ENST00000559468,;,regulatory_region_variant,,ENSR00000279236,; C ENSG00000182253 ENST00000336292 Transcript missense_variant 461/7394 296/4698 99/1565 D/A gAt/gCt 1 1 SYNM HGNC HGNC:24466 protein_coding YES CCDS73787.1 ENSP00000336775 O15061 UPI0000DC3AA9 NM_145728.2 tolerated(0.11) benign(0.003) 1/4 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF194,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.340,SMART_domains:SM01391 MODERATE 1 SNV 1 PASS GAT . . 99105495 ZNF629 . GRCh38 chr16 30783282 30783282 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.1046T>G p.Leu349Arg p.L349R ENST00000262525 3/3 123 89 15 29 29 0 ZNF629,missense_variant,p.Leu349Arg,ENST00000262525,NM_001080417.1,NM_001345970.1; C ENSG00000102870 ENST00000262525 Transcript missense_variant 1254/6087 1046/2610 349/869 L/R cTa/cGa 1 -1 ZNF629 HGNC HGNC:29008 protein_coding YES CCDS45463.1 ENSP00000262525 Q9UEG4 UPI00001C1FA5 NM_001080417.1,NM_001345970.1 tolerated(0.52) probably_damaging(0.999) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TAG . . 30783282 IRX5 . GRCh38 chr16 54933375 54933375 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.954T>G p.His318Gln p.H318Q ENST00000394636 3/3 90 78 10 39 39 0 IRX5,missense_variant,p.His318Gln,ENST00000394636,NM_005853.5;IRX5,missense_variant,p.His317Gln,ENST00000320990,NM_001252197.1;IRX5,intron_variant,,ENST00000560154,;IRX5,intron_variant,,ENST00000620085,;CRNDE,upstream_gene_variant,,ENST00000501177,NM_001308963.1;CRNDE,upstream_gene_variant,,ENST00000502066,;CRNDE,upstream_gene_variant,,ENST00000557792,;AC106738.2,downstream_gene_variant,,ENST00000558156,;CRNDE,upstream_gene_variant,,ENST00000558952,;CRNDE,upstream_gene_variant,,ENST00000559432,;CRNDE,upstream_gene_variant,,ENST00000559598,;AC106738.2,downstream_gene_variant,,ENST00000559802,;CRNDE,upstream_gene_variant,,ENST00000560208,;AC106738.1,upstream_gene_variant,,ENST00000560487,;CRNDE,upstream_gene_variant,,ENST00000560912,;IRX5,non_coding_transcript_exon_variant,,ENST00000558597,; G ENSG00000176842 ENST00000394636 Transcript missense_variant 1291/2401 954/1452 318/483 H/Q caT/caG 1 1 IRX5 HGNC HGNC:14361 protein_coding YES CCDS10751.1 ENSP00000378132 P78411 UPI00001FF1CD NM_005853.5 tolerated(0.59) benign(0.425) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11211:SF17,hmmpanther:PTHR11211 MODERATE 1 SNV 3 1 PASS ATT . . 54933375 MAP1LC3B . GRCh38 chr16 87392469 87392469 + Splice_Site SNP T T G novel 7316-936 BS_9A5CF1QE T T c.40+2T>G p.X14_splice ENST00000268607 90 70 12 49 47 0 MAP1LC3B,splice_donor_variant,,ENST00000268607,NM_022818.4;MAP1LC3B,splice_donor_variant,,ENST00000565788,;FBXO31,upstream_gene_variant,,ENST00000618298,NM_001282683.1;AC010531.3,downstream_gene_variant,,ENST00000569147,;MAP1LC3B,downstream_gene_variant,,ENST00000561823,;MAP1LC3B,downstream_gene_variant,,ENST00000562778,;MAP1LC3B,downstream_gene_variant,,ENST00000563720,;FBXO31,upstream_gene_variant,,ENST00000567622,;FBXO31,upstream_gene_variant,,ENST00000569412,;MAP1LC3B,downstream_gene_variant,,ENST00000599768,;MAP1LC3B,splice_donor_variant,,ENST00000564638,;MAP1LC3B,splice_donor_variant,,ENST00000570189,;MAP1LC3B,synonymous_variant,p.Gly14=,ENST00000564844,;,regulatory_region_variant,,ENSR00000089313,; G ENSG00000140941 ENST00000268607 Transcript splice_donor_variant 1 1 MAP1LC3B HGNC HGNC:13352 protein_coding YES CCDS10960.1 ENSP00000268607 Q9GZQ8 Q658J6 UPI0000001057 NM_022818.4 1/3 HIGH 1 SNV 1 PASS GTG . . 87392469 ULK2 . GRCh38 chr17 19867416 19867416 + Translation_Start_Site SNP A A C novel 7316-936 BS_9A5CF1QE A A c.2T>G p.Met1? p.M1? ENST00000395544 1/27 70 58 10 32 32 0 ULK2,start_lost,p.Met1?,ENST00000395544,NM_014683.3;ULK2,start_lost,p.Met1?,ENST00000361658,NM_001142610.1;AC015726.2,upstream_gene_variant,,ENST00000620112,;ULK2,upstream_gene_variant,,ENST00000580118,;,regulatory_region_variant,,ENSR00000092291,; C ENSG00000083290 ENST00000395544 Transcript start_lost 502/6010 2/3111 1/1036 M/R aTg/aGg 1 -1 ULK2 HGNC HGNC:13480 protein_coding YES CCDS11213.1 ENSP00000378914 Q8IYT8 UPI000013D19B NM_014683.3 deleterious(0) probably_damaging(0.942) 1/27 hmmpanther:PTHR24348,hmmpanther:PTHR24348:SF18,PIRSF_domain:PIRSF000580 HIGH 1 SNV 1 PASS CAT . . 19867416 BAHCC1 . GRCh38 chr17 81399878 81399878 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.139A>C p.Lys47Gln p.K47Q ENST00000584436 2/29 66 50 14 50 49 0 BAHCC1,missense_variant,p.Lys47Gln,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Lys47Gln,ENST00000307745,;MIR4740,downstream_gene_variant,,ENST00000584184,;BAHCC1,non_coding_transcript_exon_variant,,ENST00000583828,;AC110285.7,upstream_gene_variant,,ENST00000624417,;BAHCC1,upstream_gene_variant,,ENST00000625166,;,regulatory_region_variant,,ENSR00000099398,; C ENSG00000266074 ENST00000584436 Transcript missense_variant 506/10801 139/7920 47/2639 K/Q Aag/Cag 1 1 BAHCC1 HGNC HGNC:29279 protein_coding YES CCDS74173.1 ENSP00000462154 Q9P281 UPI0003EAE637 NM_001291324.1 deleterious(0.03) benign(0.169) 2/29 mobidb-lite MODERATE 1 SNV 5 PASS AAA . . 81399878 EMILIN2 . GRCh38 chr18 2906869 2906869 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.2446A>C p.Thr816Pro p.T816P ENST00000254528 5/8 101 90 7 44 44 0 EMILIN2,missense_variant,p.Thr816Pro,ENST00000254528,NM_032048.2;EMILIN2,intron_variant,,ENST00000308080,;EMILIN2,non_coding_transcript_exon_variant,,ENST00000583776,;,regulatory_region_variant,,ENSR00000099955,; C ENSG00000132205 ENST00000254528 Transcript missense_variant 2605/5910 2446/3162 816/1053 T/P Acc/Ccc 1 1 EMILIN2 HGNC HGNC:19881 protein_coding YES CCDS11828.1 ENSP00000254528 Q9BXX0 UPI000013CE3E NM_032048.2 tolerated(0.35) benign(0) 5/8 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5 MODERATE 1 SNV 1 PASS AAC . . 2906869 PHLPP1 . GRCh38 chr18 62716403 62716403 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.720A>C p.Lys240Asn p.K240N ENST00000262719 1/17 92 71 13 40 39 0 PHLPP1,missense_variant,p.Lys240Asn,ENST00000262719,NM_194449.3;,regulatory_region_variant,,ENSR00000104398,; C ENSG00000081913 ENST00000262719 Transcript missense_variant 954/6390 720/5154 240/1717 K/N aaA/aaC 1 1 PHLPP1 HGNC HGNC:20610 protein_coding YES CCDS45881.2 ENSP00000262719 O60346 UPI000051AE2E NM_194449.3 deleterious_low_confidence(0) unknown(0) 1/17 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAG . . 62716403 KDSR . GRCh38 chr18 63367017 63367017 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.102T>G p.His34Gln p.H34Q ENST00000406396 1/10 120 109 10 41 41 0 KDSR,missense_variant,p.His34Gln,ENST00000406396,;KDSR,missense_variant,p.His34Gln,ENST00000645214,NM_002035.2;KDSR,missense_variant,p.His34Gln,ENST00000591902,;KDSR,missense_variant,p.His34Gln,ENST00000326575,;KDSR,missense_variant,p.His34Gln,ENST00000592327,;AC036176.1,upstream_gene_variant,,ENST00000589905,;KDSR,non_coding_transcript_exon_variant,,ENST00000587292,;KDSR,missense_variant,p.His34Gln,ENST00000646205,;KDSR,missense_variant,p.His34Gln,ENST00000644624,;KDSR,non_coding_transcript_exon_variant,,ENST00000589530,;KDSR,non_coding_transcript_exon_variant,,ENST00000585456,;,regulatory_region_variant,,ENSR00000104511,; C ENSG00000119537 ENST00000406396 Transcript missense_variant 494/5447 102/999 34/332 H/Q caT/caG 1 -1 KDSR HGNC HGNC:4021 protein_coding YES CCDS11982.1 ENSP00000385083 Q06136 A0A024R292 UPI000004C798 deleterious(0.02) benign(0.028) 1/10 cd08939,hmmpanther:PTHR43550:SF3,hmmpanther:PTHR43550,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081 MODERATE 1 SNV 1 1 PASS CAT . . 63367017 MUC16 . GRCh38 chr19 8937881 8937881 + Missense_Mutation SNP G G A rs1213380239 7316-936 BS_9A5CF1QE G G c.33074C>T p.Ala11025Val p.A11025V ENST00000397910 5/84 84 70 5 35 33 0 MUC16,missense_variant,p.Ala11025Val,ENST00000397910,NM_024690.2; A ENSG00000181143 ENST00000397910 Transcript missense_variant 33278/43816 33074/43524 11025/14507 A/V gCa/gTa rs1213380239 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0.102) 5/84 mobidb-lite,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 MODERATE 1 SNV 5 1 PASS TGC . . 4.066e-06 5.799e-05 8937881 SMARCA4 . GRCh38 chr19 10961177 10961177 + Splice_Region SNP A A C novel 7316-936 BS_9A5CF1QE A A c.-32+3A>C ENST00000344626 70 58 11 24 24 0 SMARCA4,splice_region_variant,,ENST00000344626,NM_003072.3;SMARCA4,splice_region_variant,,ENST00000429416,NM_001128844.1;SMARCA4,splice_region_variant,,ENST00000444061,;SMARCA4,splice_region_variant,,ENST00000541122,;SMARCA4,splice_region_variant,,ENST00000589677,NM_001128846.1;SMARCA4,splice_region_variant,,ENST00000642628,;SMARCA4,splice_region_variant,,ENST00000642726,;SMARCA4,splice_region_variant,,ENST00000643296,NM_001128845.1;SMARCA4,splice_region_variant,,ENST00000643549,;SMARCA4,splice_region_variant,,ENST00000644737,;SMARCA4,splice_region_variant,,ENST00000644760,;SMARCA4,splice_region_variant,,ENST00000645460,NM_001128848.1;SMARCA4,splice_region_variant,,ENST00000646484,NM_001128847.1;SMARCA4,splice_region_variant,,ENST00000646510,;SMARCA4,splice_region_variant,,ENST00000646693,NM_001128849.1;SMARCA4,splice_region_variant,,ENST00000647230,;SMARCA4,upstream_gene_variant,,ENST00000590574,;,regulatory_region_variant,,ENSR00000107118,; C ENSG00000127616 ENST00000344626 Transcript splice_region_variant,intron_variant 1 1 SMARCA4 HGNC HGNC:11100 protein_coding YES CCDS12253.1 ENSP00000343896 P51532 A7E2E1 UPI000006F973 NM_003072.3 1/34 LOW 1 SNV 1 1 PASS TAA . . 10961177 ANO8 . GRCh38 chr19 17328802 17328802 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.1586A>C p.Gln529Pro p.Q529P ENST00000159087 13/18 89 69 9 33 32 0 ANO8,missense_variant,p.Gln529Pro,ENST00000159087,NM_020959.2;ANO8,downstream_gene_variant,,ENST00000630631,;ANO8,3_prime_UTR_variant,,ENST00000597643,;ANO8,downstream_gene_variant,,ENST00000600711,;,regulatory_region_variant,,ENSR00000107881,; G ENSG00000074855 ENST00000159087 Transcript missense_variant 1745/4152 1586/3699 529/1232 Q/P cAg/cCg 1 -1 ANO8 HGNC HGNC:29329 protein_coding YES CCDS32949.1 ENSP00000159087 Q9HCE9 UPI00001C200F NM_020959.2 tolerated(0.24) benign(0.001) 13/18 Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF33,mobidb-lite MODERATE 1 SNV 1 PASS CTG . . 17328802 ZNF253 . GRCh38 chr19 19892269 19892269 + Missense_Mutation SNP A A T 7316-936 BS_9A5CF1QE A A c.1022A>T p.Lys341Ile p.K341I ENST00000589717 4/4 73 63 5 55 54 0 ZNF253,missense_variant,p.Lys341Ile,ENST00000589717,NM_021047.2;ZNF253,missense_variant,p.Lys265Ile,ENST00000355650,NM_001331134.1;ZNF253,intron_variant,,ENST00000640599,;ZNF253,downstream_gene_variant,,ENST00000592725,;AC011477.3,downstream_gene_variant,,ENST00000585571,; T ENSG00000256771 ENST00000589717 Transcript missense_variant 1114/3519 1022/1500 341/499 K/I aAa/aTa COSM5956492,COSM5956491 1 1 ZNF253 HGNC HGNC:13497 protein_coding YES CCDS42532.1 ENSP00000468720 O75346 UPI0000070CE8 NM_021047.2 deleterious(0.03) benign(0.257) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF181,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS AAA . . 19892269 ZNF43 . GRCh38 chr19 21807744 21807744 + Nonsense_Mutation SNP T T A 7316-936 BS_9A5CF1QE T T c.2320A>T p.Lys774Ter p.K774* ENST00000357491 4/4 84 70 9 38 37 0 ZNF43,stop_gained,p.Lys759Ter,ENST00000594012,NM_001256649.1;ZNF43,stop_gained,p.Lys774Ter,ENST00000357491,NM_001256653.1;ZNF43,stop_gained,p.Lys759Ter,ENST00000595461,NM_001256648.1;ZNF43,stop_gained,p.Lys759Ter,ENST00000598381,NM_001256650.1;ZNF43,stop_gained,p.Lys765Ter,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; A ENSG00000198521 ENST00000357491 Transcript stop_gained 2454/5249 2320/2457 774/818 K/* Aaa/Taa COSM1293744 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 HIGH 1 SNV 2 1 PASS TTA . . 21807744 ZNF208 . GRCh38 chr19 21971395 21971395 + Missense_Mutation SNP T T A rs560585093 7316-936 BS_9A5CF1QE T T c.3639A>T p.Arg1213Ser p.R1213S ENST00000397126 4/4 60 46 11 42 41 0 ZNF208,missense_variant,p.Arg1213Ser,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Arg1085Ser,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; A ENSG00000160321 ENST00000397126 Transcript missense_variant 3788/3992 3639/3843 1213/1280 R/S agA/agT rs560585093,COSM1611940,COSM1611939,COSM1611938 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(0.52) benign(0.054) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0002 0.001 0,1,1,1 MODERATE 1 SNV 3 0,1,1,1 PASS ATC . . 1.67e-05 3.017e-05 0.0001756 21971395 ZNF257 . GRCh38 chr19 22088415 22088415 + Missense_Mutation SNP C C T rs1337447625 7316-936 BS_9A5CF1QE C C c.665C>T p.Thr222Ile p.T222I ENST00000594947 4/4 77 63 6 37 37 0 ZNF257,missense_variant,p.Thr222Ile,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; T ENSG00000197134 ENST00000594947 Transcript missense_variant 809/3874 665/1692 222/563 T/I aCt/aTt rs1337447625 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS ACT . . 4.083e-06 6.561e-05 22088415 ZNF723 . GRCh38 chr19 22857753 22857753 + Missense_Mutation SNP A A G rs12977900 7316-936 BS_9A5CF1QE A A c.862A>G p.Lys288Glu p.K288E ENST00000600766 4/4 87 69 7 39 39 0 ZNF723,missense_variant,p.Lys288Glu,ENST00000600766,NM_001349726.1;VN1R88P,upstream_gene_variant,,ENST00000596787,; G ENSG00000268696 ENST00000600766 Transcript missense_variant 921/1835 862/1542 288/513 K/E Aaa/Gaa rs12977900 1 1 ZNF723 HGNC HGNC:32286 protein_coding YES ENSP00000494306 P0DPD5 UPI0009ACDB03 NM_001349726.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.30.30.380,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV PASS TAA . . 22857753 ZNF728 . GRCh38 chr19 22976259 22976259 + Missense_Mutation SNP C C A novel 7316-936 BS_9A5CF1QE C C c.1078G>T p.Val360Leu p.V360L ENST00000594710 4/4 75 55 7 50 48 0 ZNF728,missense_variant,p.Val360Leu,ENST00000594710,NM_001267716.1;ZNF728,downstream_gene_variant,,ENST00000599851,; A ENSG00000269067 ENST00000594710 Transcript missense_variant 1224/2015 1078/1869 360/622 V/L Gta/Tta 1 -1 ZNF728 HGNC HGNC:32463 protein_coding YES CCDS59370.1 ENSP00000471593 P0DKX0 UPI0002656E4B NM_001267716.1 tolerated(0.51) benign(0.122) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS ACC . . 22976259 ZNF681 . GRCh38 chr19 23743770 23743770 + Nonsense_Mutation SNP T T A 7316-936 BS_9A5CF1QE T T c.1780A>T p.Lys594Ter p.K594* ENST00000402377 4/4 78 65 6 42 41 0 ZNF681,stop_gained,p.Lys594Ter,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; A ENSG00000196172 ENST00000402377 Transcript stop_gained 1922/6497 1780/1938 594/645 K/* Aaa/Taa COSM6237827,COSM6237826 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1,1 HIGH 1 SNV 1 1,1 PASS TTT . . 23743770 PRX . GRCh38 chr19 40396620 40396620 + Missense_Mutation SNP G G T 7316-936 BS_9A5CF1QE G G c.1732C>A p.Pro578Thr p.P578T ENST00000324001 7/7 61 50 5 40 38 0 PRX,missense_variant,p.Pro578Thr,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2; T ENSG00000105227 ENST00000324001 Transcript missense_variant 2003/4855 1732/4386 578/1461 P/T Cca/Aca COSM6004215 1 -1 PRX HGNC HGNC:13797 protein_coding YES CCDS33028.1 ENSP00000326018 Q9BXM0 UPI000044CC1A NM_181882.2 deleterious(0.03) possibly_damaging(0.616) 7/7 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF42 1 MODERATE 1 SNV 1 1 1 PASS GGC . . 40396620 ZNF234 . GRCh38 chr19 44157574 44157574 + Missense_Mutation SNP G G C novel 7316-936 BS_9A5CF1QE G G c.1558G>C p.Val520Leu p.V520L ENST00000426739 6/6 61 53 5 53 53 0 ZNF234,missense_variant,p.Val520Leu,ENST00000426739,NM_006630.2;ZNF234,missense_variant,p.Val520Leu,ENST00000592437,NM_001144824.1; C ENSG00000263002 ENST00000426739 Transcript missense_variant 1816/4551 1558/2103 520/700 V/L Gtc/Ctc 1 1 ZNF234 HGNC HGNC:13027 protein_coding YES CCDS46101.1 ENSP00000400878 Q14588 A0A024R0N3 UPI0000070C95 NM_006630.2 tolerated(0.53) possibly_damaging(0.726) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GGT . . 44157574 ZNF233 . GRCh38 chr19 44274077 44274077 + Missense_Mutation SNP A A G rs138726857 7316-936 BS_9A5CF1QE A A c.1417A>G p.Ile473Val p.I473V ENST00000391958 5/5 51 43 6 29 28 0 ZNF233,missense_variant,p.Ile473Val,ENST00000391958,NM_181756.2,NM_001207005.1;ZNF233,3_prime_UTR_variant,,ENST00000592581,NM_001330529.1;ZNF235,intron_variant,,ENST00000589799,;ZNF235,downstream_gene_variant,,ENST00000589248,;ZNF233,downstream_gene_variant,,ENST00000590668,;ZNF235,intron_variant,,ENST00000592844,; G ENSG00000159915 ENST00000391958 Transcript missense_variant 1544/2784 1417/2013 473/670 I/V Atc/Gtc rs138726857 1 1 ZNF233 HGNC HGNC:30946 protein_coding YES CCDS33047.1 ENSP00000375820 A6NK53 UPI000049DEBE NM_181756.2,NM_001207005.1 tolerated(1) benign(0.145) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF705,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0274 0.1006 0.0058 0.04607 0.0001163 MODERATE 1 SNV 2 PASS AAT . . 44274077 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 95 75 14 36 36 0 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 AC008687.4 . GRCh38 chr19 49019666 49019666 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.485A>C p.His162Pro p.H162P ENST00000637680 3/5 90 71 14 30 30 0 AC008687.4,missense_variant,p.His162Pro,ENST00000637680,;LHB,upstream_gene_variant,,ENST00000221421,NM_000894.2;CGB3,downstream_gene_variant,,ENST00000357383,NM_000737.3;AC008687.1,downstream_gene_variant,,ENST00000591656,;RUVBL2,downstream_gene_variant,,ENST00000595090,NM_006666.2;RUVBL2,downstream_gene_variant,,ENST00000601968,NM_001321190.1,NM_001321191.1;AC008687.1,downstream_gene_variant,,ENST00000604577,;RUVBL2,downstream_gene_variant,,ENST00000627972,;AC008687.4,upstream_gene_variant,,ENST00000600007,;RUVBL2,downstream_gene_variant,,ENST00000221413,;RUVBL2,downstream_gene_variant,,ENST00000594338,;RUVBL2,downstream_gene_variant,,ENST00000595002,;RUVBL2,downstream_gene_variant,,ENST00000596247,;,regulatory_region_variant,,ENSR00000288853,; G ENSG00000268655 ENST00000637680 Transcript missense_variant 493/1485 485/1005 162/334 H/P cAc/cCc 1 -1 AC008687.4 Clone_based_ensembl_gene protein_coding YES ENSP00000489727 A0A1B0GTJ6 UPI0000EE7C12 deleterious(0.01) benign(0.349) 3/5 hmmpanther:PTHR37404 MODERATE SNV 5 PASS GTG . . 49019666 KCNC3 . GRCh38 chr19 50323140 50323140 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.1813A>C p.Met605Leu p.M605L ENST00000477616 2/5 95 62 17 40 40 0 KCNC3,missense_variant,p.Met605Leu,ENST00000376959,;KCNC3,missense_variant,p.Met605Leu,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000474951,; G ENSG00000131398 ENST00000477616 Transcript missense_variant 2108/3176 1813/2274 605/757 M/L Atg/Ctg 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 tolerated_low_confidence(0.59) benign(0) 2/5 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF184,mobidb-lite MODERATE 1 SNV 1 1 PASS ATG . . 50323140 SHANK1 . GRCh38 chr19 50668253 50668253 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.3707T>G p.Leu1236Arg p.L1236R ENST00000293441 22/23 62 42 15 29 28 0 SHANK1,missense_variant,p.Leu1236Arg,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Leu1244Arg,ENST00000391814,;SHANK1,missense_variant,p.Leu1227Arg,ENST00000359082,;SHANK1,missense_variant,p.Leu623Arg,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,; C ENSG00000161681 ENST00000293441 Transcript missense_variant 3726/6643 3707/6486 1236/2161 L/R cTg/cGg 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 tolerated(0.1) benign(0.432) 22/23 hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3 MODERATE 1 SNV 1 1 PASS CAG . . 50668253 ZNF761 . GRCh38 chr19 53456633 53456633 + Missense_Mutation SNP A A T novel 7316-936 BS_9A5CF1QE A A c.2126A>T p.His709Leu p.H709L ENST00000432094 5/5 70 60 5 39 38 0 ZNF761,missense_variant,p.His709Leu,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.His709Leu,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; T ENSG00000160336 ENST00000432094 Transcript missense_variant 2433/4061 2126/2241 709/746 H/L cAt/cTt 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 tolerated(0.1) benign(0.072) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CAT . . 53456633 ZNF331 . GRCh38 chr19 53577376 53577376 + Missense_Mutation SNP G G T novel 7316-936 BS_9A5CF1QE G G c.816G>T p.Glu272Asp p.E272D ENST00000253144 7/7 95 82 6 46 46 0 ZNF331,missense_variant,p.Glu272Asp,ENST00000253144,NM_018555.5,NM_001317120.1;ZNF331,missense_variant,p.Glu272Asp,ENST00000449416,;ZNF331,missense_variant,p.Glu272Asp,ENST00000411977,NM_001253799.1,NM_001253798.1,NM_001079906.1,NM_001317115.1,NM_001317114.1;ZNF331,missense_variant,p.Glu272Asp,ENST00000512387,NM_001317119.1,NM_001317121.1,NM_001317118.1,NM_001317116.1,NM_001253801.2,NM_001317117.1;ZNF331,missense_variant,p.Glu272Asp,ENST00000511154,NM_001317113.1;ZNF331,missense_variant,p.Glu272Asp,ENST00000511593,NM_001079907.1;ZNF331,missense_variant,p.Glu272Asp,ENST00000513999,NM_001253800.1;ZNF331,intron_variant,,ENST00000513265,;ZNF331,downstream_gene_variant,,ENST00000502248,;ZNF331,downstream_gene_variant,,ENST00000502616,;ZNF331,downstream_gene_variant,,ENST00000504493,;ZNF331,downstream_gene_variant,,ENST00000505426,;ZNF331,downstream_gene_variant,,ENST00000505949,;ZNF331,downstream_gene_variant,,ENST00000509047,;ZNF331,downstream_gene_variant,,ENST00000509585,;ZNF331,downstream_gene_variant,,ENST00000511567,;ZNF331,downstream_gene_variant,,ENST00000514022,;ZNF331,downstream_gene_variant,,ENST00000514374,; T ENSG00000130844 ENST00000253144 Transcript missense_variant 2149/5042 816/1392 272/463 E/D gaG/gaT 1 1 ZNF331 HGNC HGNC:15489 protein_coding YES CCDS33102.1 ENSP00000253144 Q9NQX6 A0A024R4J5 UPI0000039DC3 NM_018555.5,NM_001317120.1 tolerated(0.05) benign(0.33) 7/7 Gene3D:2.30.30.380,Pfam_domain:PF13912,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF13,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 1 PASS AGT . . 53577376 IL11 . GRCh38 chr19 55366105 55366105 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.502T>G p.Trp168Gly p.W168G ENST00000264563 5/5 78 63 12 35 34 0 IL11,missense_variant,p.Trp168Gly,ENST00000264563,NM_000641.3;IL11,missense_variant,p.Trp168Gly,ENST00000585513,;IL11,missense_variant,p.Trp89Gly,ENST00000590625,NM_001267718.1;FAM71E2,upstream_gene_variant,,ENST00000424985,NM_001145402.1;IL11,downstream_gene_variant,,ENST00000587093,;FAM71E2,upstream_gene_variant,,ENST00000585734,;,regulatory_region_variant,,ENSR00000111641,; C ENSG00000095752 ENST00000264563 Transcript missense_variant 565/2281 502/600 168/199 W/G Tgg/Ggg 1 -1 IL11 HGNC HGNC:5966 protein_coding YES CCDS12923.1 ENSP00000264563 P20809 A8K3F7 UPI000000D8E5 NM_000641.3 deleterious(0) benign(0.31) 5/5 Gene3D:1.20.1250.10,Pfam_domain:PF07400,hmmpanther:PTHR16922,Superfamily_domains:SSF47266 MODERATE 1 SNV 1 1 PASS CAG . . 55366105 ZNF337 . GRCh38 chr20 25676316 25676316 + Missense_Mutation SNP C C G novel 7316-936 BS_9A5CF1QE C C c.972G>C p.Glu324Asp p.E324D ENST00000376436 4/4 72 62 7 44 43 0 ZNF337,missense_variant,p.Glu324Asp,ENST00000376436,NM_001290261.1;ZNF337,missense_variant,p.Glu324Asp,ENST00000252979,NM_015655.3;ZNF337-AS1,non_coding_transcript_exon_variant,,ENST00000414393,;ZNF337-AS1,intron_variant,,ENST00000439498,;ZNF337-AS1,intron_variant,,ENST00000455791,;ZNF337-AS1,downstream_gene_variant,,ENST00000421829,;ZNF337-AS1,downstream_gene_variant,,ENST00000428254,;AL031673.1,upstream_gene_variant,,ENST00000611460,;ZNF337,downstream_gene_variant,,ENST00000481610,; G ENSG00000130684 ENST00000376436 Transcript missense_variant 1512/3613 972/2256 324/751 E/D gaG/gaC 1 -1 ZNF337 HGNC HGNC:15809 protein_coding YES CCDS13174.1 ENSP00000365619 Q9Y3M9 UPI000013C35E NM_001290261.1 tolerated(0.16) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF22,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355 MODERATE 1 SNV 1 PASS ACT . . 25676316 LIME1 . GRCh38 chr20 63737818 63737818 + Splice_Region SNP A A C novel 7316-936 BS_9A5CF1QE A A c.99-3A>C ENST00000309546 97 77 15 36 33 0 LIME1,splice_region_variant,,ENST00000309546,NM_017806.3;LIME1,splice_region_variant,,ENST00000444951,;LIME1,splice_region_variant,,ENST00000480139,NM_001305655.1,NM_001305654.1;LIME1,splice_region_variant,,ENST00000487026,;LIME1,splice_region_variant,,ENST00000493265,;AL121845.3,splice_region_variant,,ENST00000632538,;LIME1,intron_variant,,ENST00000476183,;AL121845.3,intron_variant,,ENST00000496820,;SLC2A4RG,upstream_gene_variant,,ENST00000266077,NM_020062.3;ZGPAT,downstream_gene_variant,,ENST00000328969,NM_032527.4;ZGPAT,downstream_gene_variant,,ENST00000355969,NM_001195653.1,NM_181485.2;ZGPAT,downstream_gene_variant,,ENST00000357119,NM_001195654.1;ZGPAT,downstream_gene_variant,,ENST00000369967,;ZGPAT,downstream_gene_variant,,ENST00000448100,NM_001083113.1;AL121845.2,upstream_gene_variant,,ENST00000467211,;ZGPAT,downstream_gene_variant,,ENST00000468235,;ZGPAT,downstream_gene_variant,,ENST00000472711,;SLC2A4RG,upstream_gene_variant,,ENST00000473157,;SLC2A4RG,upstream_gene_variant,,ENST00000474248,;AL121845.2,upstream_gene_variant,,ENST00000476221,;ZGPAT,downstream_gene_variant,,ENST00000478385,;SLC2A4RG,upstream_gene_variant,,ENST00000482718,;SLC2A4RG,upstream_gene_variant,,ENST00000485897,;SLC2A4RG,upstream_gene_variant,,ENST00000491109,;SLC2A4RG,upstream_gene_variant,,ENST00000493772,;LIME1,upstream_gene_variant,,ENST00000494776,;SLC2A4RG,upstream_gene_variant,,ENST00000496425,;LIME1,splice_region_variant,,ENST00000465591,;AL121845.3,splice_region_variant,,ENST00000490623,;LIME1,splice_region_variant,,ENST00000621325,;LIME1,intron_variant,,ENST00000489212,;ZGPAT,downstream_gene_variant,,ENST00000477340,;ZGPAT,downstream_gene_variant,,ENST00000484569,; C ENSG00000203896 ENST00000309546 Transcript splice_region_variant,intron_variant 1 1 LIME1 HGNC HGNC:26016 protein_coding YES CCDS13536.1 ENSP00000309521 Q9H400 UPI000006F9E2 NM_017806.3 2/5 LOW 1 SNV 1 PASS CAA . . 63737818 RUNX1 . GRCh38 chr21 34792308 34792308 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.1270T>G p.Ser424Ala p.S424A ENST00000300305 8/8 62 34 10 35 33 1 RUNX1,missense_variant,p.Ser397Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Ser424Ala,ENST00000300305,;RUNX1,missense_variant,p.Ser424Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser333Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1715/6222 1270/1443 424/480 S/A Tcg/Gcg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) possibly_damaging(0.453) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS GAG . . 34792308 C21orf2 . GRCh38 chr21 44330571 44330571 + Missense_Mutation SNP T T G novel 7316-936 BS_9A5CF1QE T T c.891A>C p.Glu297Asp p.E297D ENST00000397956 6/7 86 75 11 39 39 0 C21orf2,missense_variant,p.Glu297Asp,ENST00000397956,NM_001271441.1;C21orf2,intron_variant,,ENST00000325223,NM_001271440.1,NM_001271442.1;C21orf2,intron_variant,,ENST00000339818,NM_004928.2;PFKL,downstream_gene_variant,,ENST00000349048,NM_002626.5,NM_001002021.2;AP001062.3,upstream_gene_variant,,ENST00000422357,;AP001062.3,upstream_gene_variant,,ENST00000444409,;AP001062.1,upstream_gene_variant,,ENST00000448927,;C21orf2,intron_variant,,ENST00000470196,;C21orf2,intron_variant,,ENST00000496321,;C21orf2,non_coding_transcript_exon_variant,,ENST00000462742,;PFKL,downstream_gene_variant,,ENST00000397961,;PFKL,downstream_gene_variant,,ENST00000460521,;PFKL,downstream_gene_variant,,ENST00000466134,;PFKL,downstream_gene_variant,,ENST00000467315,;PFKL,downstream_gene_variant,,ENST00000474114,;C21orf2,downstream_gene_variant,,ENST00000478674,;PFKL,downstream_gene_variant,,ENST00000495274,;PFKL,downstream_gene_variant,,ENST00000498841,;,regulatory_region_variant,,ENSR00000143054,; G ENSG00000160226 ENST00000397956 Transcript missense_variant 1090/1634 891/1128 297/375 E/D gaA/gaC 1 -1 C21orf2 HGNC HGNC:1260 protein_coding YES CCDS59444.1 ENSP00000381047 O43822 UPI00000738DF NM_001271441.1 tolerated_low_confidence(0.48) benign(0.024) 6/7 hmmpanther:PTHR18849,hmmpanther:PTHR18849:SF0 MODERATE 1 SNV 1 1 PASS ATT . . 44330571 KRTAP10-11 . GRCh38 chr21 44647009 44647009 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.551A>C p.Tyr184Ser p.Y184S ENST00000334670 1/1 87 59 15 37 34 0 KRTAP10-11,missense_variant,p.Tyr184Ser,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000243489 ENST00000334670 Transcript missense_variant 596/1237 551/897 184/298 Y/S tAc/tCc 1 1 KRTAP10-11 HGNC HGNC:20528 protein_coding YES CCDS42962.1 ENSP00000334197 P60412 UPI000040FC94 NM_198692.2 tolerated(0.12) benign(0) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF125 MODERATE SNV PASS TAC . . 44647009 SLC19A1 . GRCh38 chr21 45537767 45537767 + Splice_Region SNP A A C novel 7316-936 BS_9A5CF1QE A A c.189+4T>G ENST00000311124 103 59 9 37 23 0 SLC19A1,splice_region_variant,,ENST00000311124,NM_194255.2;SLC19A1,splice_region_variant,,ENST00000380010,NM_001205206.1;SLC19A1,splice_region_variant,,ENST00000427839,;SLC19A1,splice_region_variant,,ENST00000443742,;SLC19A1,splice_region_variant,,ENST00000567670,;SLC19A1,upstream_gene_variant,,ENST00000485649,NM_001205207.1;SLC19A1,downstream_gene_variant,,ENST00000528477,;SLC19A1,splice_region_variant,,ENST00000486303,; C ENSG00000173638 ENST00000311124 Transcript splice_region_variant,intron_variant 1 -1 SLC19A1 HGNC HGNC:10937 protein_coding YES CCDS13725.1 ENSP00000308895 P41440 UPI000012AA0F NM_194255.2 2/5 LOW 1 SNV 1 1 PASS CAT . . 45537767 DGCR8 . GRCh38 chr22 20080385 20080385 + Splice_Site SNP T T G novel 7316-936 BS_9A5CF1QE T T c.-278+2T>G ENST00000351989 63 44 6 32 32 0 DGCR8,splice_donor_variant,,ENST00000351989,NM_022720.6;DGCR8,splice_donor_variant,,ENST00000383024,NM_001190326.1;DGCR8,upstream_gene_variant,,ENST00000457069,;,regulatory_region_variant,,ENSR00000143850,; G ENSG00000128191 ENST00000351989 Transcript splice_donor_variant 1 1 DGCR8 HGNC HGNC:2847 protein_coding YES CCDS13773.1 ENSP00000263209 Q8WYQ5 UPI0000129225 NM_022720.6 1/13 HIGH 1 SNV 1 1 PASS GTA . . 20080385 CDC42EP1 . GRCh38 chr22 37568359 37568359 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.715A>C p.Thr239Pro p.T239P ENST00000249014 3/3 69 54 9 37 34 0 CDC42EP1,missense_variant,p.Thr239Pro,ENST00000249014,NM_152243.2;LGALS2,downstream_gene_variant,,ENST00000215886,NM_006498.2;CDC42EP1,downstream_gene_variant,,ENST00000415670,;LGALS2,downstream_gene_variant,,ENST00000416480,;CDC42EP1,downstream_gene_variant,,ENST00000430687,;CDC42EP1,downstream_gene_variant,,ENST00000434728,; C ENSG00000128283 ENST00000249014 Transcript missense_variant 1135/2181 715/1176 239/391 T/P Acg/Ccg 1 1 CDC42EP1 HGNC HGNC:17014 protein_coding YES CCDS13949.1 ENSP00000249014 Q00587 UPI000012F5E7 NM_152243.2 tolerated(0.5) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15344:SF7,hmmpanther:PTHR15344,Prints_domain:PR01217 MODERATE 1 SNV 1 PASS CAC . . 37568359 TRIOBP . GRCh38 chr22 37724669 37724669 + Missense_Mutation SNP G G T 7316-936 BS_9A5CF1QE G G c.2113G>T p.Asp705Tyr p.D705Y ENST00000406386 7/24 51 32 7 28 26 0 TRIOBP,missense_variant,p.Asp705Tyr,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Asp705Tyr,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; T ENSG00000100106 ENST00000406386 Transcript missense_variant 2384/10145 2113/7098 705/2365 D/Y Gat/Tat COSM1034043 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 deleterious_low_confidence(0.01) benign(0.003) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite 1 MODERATE 1 SNV 5 1 1 PASS CGA . . 37724669 CSF2RA . GRCh38 chrX 1303299 1303299 + Missense_Mutation SNP A A G rs111364616 7316-936 BS_9A5CF1QE A A c.985A>G p.Asn329Asp p.N329D ENST00000417535 11/14 80 55 17 37 36 1 CSF2RA,missense_variant,p.Asn329Asp,ENST00000417535,NM_001161530.1;CSF2RA,intron_variant,,ENST00000355432,NM_172246.2;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2;CSF2RA,intron_variant,,ENST00000381500,NM_172247.2;CSF2RA,intron_variant,,ENST00000381509,NM_001161531.1;CSF2RA,intron_variant,,ENST00000381524,;CSF2RA,intron_variant,,ENST00000381529,NM_172245.2,NM_006140.4;CSF2RA,intron_variant,,ENST00000432318,NM_001161529.1;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;RNA5SP498,upstream_gene_variant,,ENST00000411342,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000498153,;CSF2RA,intron_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000493312,;CSF2RA,intron_variant,,ENST00000486791,; G ENSG00000198223 ENST00000417535 Transcript missense_variant 1179/1955 985/1305 329/434 N/D Aat/Gat rs111364616,COSM5956821 1 1 CSF2RA HGNC HGNC:2435 protein_coding YES CCDS55359.1 ENSP00000394227 P15509 UPI000159C3E4 NM_001161530.1 tolerated(0.65) benign(0) 11/14 hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF94 0,1 MODERATE 1 SNV 5 0,1 1 PASS CAA . . 0.0005365 0.005525 0.001399 0.0007042 0.001825 0.0001209 0.0007163 1303299 AP1S2 . GRCh38 chrX 15854686 15854686 + Splice_Site SNP A A C novel 7316-936 BS_9A5CF1QE A A c.-1+2T>G ENST00000545766 72 53 9 38 38 0 AP1S2,splice_donor_variant,,ENST00000329235,NM_003916.4;AP1S2,splice_donor_variant,,ENST00000380291,;AP1S2,splice_donor_variant,,ENST00000545766,NM_001272071.1;AP1S2,upstream_gene_variant,,ENST00000450644,;AP1S2,upstream_gene_variant,,ENST00000452376,;,regulatory_region_variant,,ENSR00000339851,; C ENSG00000182287 ENST00000545766 Transcript splice_donor_variant 1 -1 AP1S2 HGNC HGNC:560 protein_coding YES CCDS75958.1 ENSP00000444957 F6SFB5 UPI0000004073 NM_001272071.1 1/5 HIGH 1 SNV 1 1 PASS TAC . . 15854686 MAGEB6 . GRCh38 chrX 26194265 26194265 + Missense_Mutation SNP A A C rs1270521532 7316-936 BS_9A5CF1QE A A c.419A>C p.His140Pro p.H140P ENST00000379034 2/2 77 63 7 33 32 0 MAGEB6,missense_variant,p.His140Pro,ENST00000379034,NM_173523.2; C ENSG00000176746 ENST00000379034 Transcript missense_variant 568/1949 419/1224 140/407 H/P cAt/cCt rs1270521532,COSM6118235,COSM1294558 1 1 MAGEB6 HGNC HGNC:23796 protein_coding YES CCDS14217.1 ENSP00000368320 Q8N7X4 UPI00001413F4 NM_173523.2 tolerated(1) benign(0) 2/2 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67,SMART_domains:SM01392,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CAT . . 26194265 OTUD5 . GRCh38 chrX 48957401 48957401 + Missense_Mutation SNP A A C novel 7316-936 BS_9A5CF1QE A A c.170T>G p.Val57Gly p.V57G ENST00000156084 1/9 63 54 7 31 29 0 OTUD5,missense_variant,p.Val57Gly,ENST00000156084,NM_017602.3;OTUD5,missense_variant,p.Val57Gly,ENST00000376488,;OTUD5,missense_variant,p.Val57Gly,ENST00000396743,NM_001136158.1,NM_001136157.1;OTUD5,missense_variant,p.Val33Gly,ENST00000610466,;OTUD5,intron_variant,,ENST00000428668,NM_001136159.1;KCND1,downstream_gene_variant,,ENST00000218176,NM_004979.5;KCND1,downstream_gene_variant,,ENST00000376477,;OTUD5,upstream_gene_variant,,ENST00000455452,;RNU6-722P,downstream_gene_variant,,ENST00000411377,;OTUD5,upstream_gene_variant,,ENST00000484499,;,regulatory_region_variant,,ENSR00000246533,; C ENSG00000068308 ENST00000156084 Transcript missense_variant 231/2740 170/1716 57/571 V/G gTg/gGg 1 -1 OTUD5 HGNC HGNC:25402 protein_coding YES CCDS14313.1 ENSP00000156084 Q96G74 A0A024QZ09 UPI000006ED2A NM_017602.3 tolerated_low_confidence(0.06) benign(0.014) 1/9 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 48957401 MAGEE1 . GRCh38 chrX 76428831 76428831 + Missense_Mutation SNP A A T novel 7316-936 BS_9A5CF1QE A A c.901A>T p.Thr301Ser p.T301S ENST00000361470 1/1 111 90 7 38 37 0 MAGEE1,missense_variant,p.Thr301Ser,ENST00000361470,NM_020932.2;,regulatory_region_variant,,ENSR00000247301,; T ENSG00000198934 ENST00000361470 Transcript missense_variant 1108/3630 901/2874 301/957 T/S Acc/Tcc 1 1 MAGEE1 HGNC HGNC:24934 protein_coding YES CCDS14433.1 ENSP00000354912 Q9HCI5 UPI000006F138 NM_020932.2 tolerated_low_confidence(1) benign(0) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF9,mobidb-lite MODERATE 1 SNV PASS CAC . . 76428831 ARMCX4 . GRCh38 chrX 101492598 101492598 + Missense_Mutation SNP A A G rs1272660026 7316-936 BS_9A5CF1QE A A c.4009A>G p.Ser1337Gly p.S1337G ENST00000423738 2/2 85 70 8 36 34 0 ARMCX4,missense_variant,p.Ser1337Gly,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; G ENSG00000196440 ENST00000423738 Transcript missense_variant 4211/7424 4009/6873 1337/2290 S/G Agt/Ggt rs1272660026 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.15) probably_damaging(0.955) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TAG . . 101492598 TEX13C . GRCh38 chrX 125321616 125321616 + Missense_Mutation SNP A A C rs1240648466 7316-936 BS_9A5CF1QE A A c.1497A>C p.Glu499Asp p.E499D ENST00000632600 1/1 58 45 8 31 30 0 TEX13C,missense_variant,p.Glu499Asp,ENST00000632600,NM_001195272.1; C ENSG00000282815 ENST00000632600 Transcript missense_variant 1497/5095 1497/2982 499/993 E/D gaA/gaC rs1240648466 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.98) benign(0.001) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28 MODERATE 1 SNV PASS AAA . . 1.225e-05 3.051e-05 125321616 RPTN . GRCh38 chr1 152156639 152156639 + Missense_Mutation SNP T T C rs113327860 7316-162 BS_9GHGSRGG T T c.460A>G p.Arg154Gly p.R154G ENST00000316073 3/3 73 54 16 24 22 1 RPTN,missense_variant,p.Arg154Gly,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; C ENSG00000215853 ENST00000316073 Transcript missense_variant 525/3569 460/2355 154/784 R/G Aga/Gga rs113327860,COSM1498488 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 deleterious(0) benign(0.276) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0.0009566 0.002792 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 6.64e-06 5.668e-05 152156639 FLG . GRCh38 chr1 152312002 152312002 + Missense_Mutation SNP A A G rs199888588 7316-162 BS_9GHGSRGG A A c.2884T>C p.Trp962Arg p.W962R ENST00000368799 3/3 90 78 9 33 33 0 FLG,missense_variant,p.Trp962Arg,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,; G ENSG00000143631 ENST00000368799 Transcript missense_variant 2920/12747 2884/12186 962/4061 W/R Tgg/Cgg rs199888588,COSM4596337 1 -1 FLG HGNC HGNC:3748 protein_coding YES CCDS30860.1 ENSP00000357789 P20930 UPI0000470CB3 NM_002016.1 tolerated(0.91) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF45 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAC . . 0.0006359 0.01142 0.0002138 0.0001805 2.705e-05 0.0001686 152312002 FIP1L1 . GRCh38 chr4 53453081 53453082 + Frame_Shift_Del DEL AG AG - rs143671659 7316-162 BS_9GHGSRGG AG AG c.1459_1460del p.Arg487GlyfsTer3 p.R487Gfs*3 ENST00000337488 16/18 65 53 5 20 20 0 FIP1L1,frameshift_variant,p.Arg487GlyfsTer3,ENST00000337488,NM_030917.3;FIP1L1,frameshift_variant,p.Arg481GlyfsTer3,ENST00000358575,NM_001134937.1;FIP1L1,frameshift_variant,p.Arg144GlyfsTer3,ENST00000504094,;FIP1L1,frameshift_variant,p.Arg413GlyfsTer3,ENST00000306932,NM_001134938.1;AC058822.1,intron_variant,,ENST00000507166,;FIP1L1,3_prime_UTR_variant,,ENST00000514543,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000505125,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000513008,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000511055,; - ENSG00000145216 ENST00000337488 Transcript frameshift_variant 1641-1642/2198 1447-1448/1785 483/594 R/X AGa/a rs143671659,COSM4435275,COSM249696 1 1 FIP1L1 HGNC HGNC:19124 protein_coding YES CCDS3491.1 ENSP00000336752 Q6UN15 UPI0000035FBF NM_030917.3 16/18 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13484,hmmpanther:PTHR13484:SF0 0,1,1 HIGH 1 deletion 1 12 0,1,1 1 PASS CCAGA . . 0.007985 0.004172 0.00575 0.009014 0.005722 0.01095 0.008428 0.005394 0.009865 53453080 HLA-A . GRCh38 chr6 29943337 29943337 + Missense_Mutation SNP G G A rs3173420 7316-162 BS_9GHGSRGG G G c.413G>A p.Arg138Gln p.R138Q ENST00000396634 5/10 61 50 9 27 26 1 HLA-A,missense_variant,p.Arg138Gln,ENST00000396634,;HLA-A,missense_variant,p.Arg138Gln,ENST00000376806,;HLA-A,missense_variant,p.Arg138Gln,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.Arg138Gln,ENST00000376802,;HLA-A,missense_variant,p.Arg138Gln,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;,regulatory_region_variant,,ENSR00000195346,;AL671277.1,upstream_gene_variant,,ENST00000429656,; A ENSG00000206503 ENST00000396634 Transcript missense_variant 754/1868 413/1098 138/365 R/Q cGg/cAg rs3173420,COSM5019451,COSM5019450,COSM4595092,COSM4595091 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D tolerated_low_confidence(0.3) benign(0) 5/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675,Prints_domain:PR01638 0.7352 0.7003 0.6766 0.5895 0.5327 0.579 0.4631 0,1,1,1,1 MODERATE 1 SNV 0,1,1,1,1 1 PASS CGG . . 0.5768 0.6064 0.6765 0.6442 0.6769 0.5333 0.5351 0.5676 0.5435 29943337 CTSLP4 . GRCh38 chr10 50706115 50706115 + Splice_Region SNP A A G rs1170271908 7316-162 BS_9GHGSRGG A A n.785-4T>C ENST00000454614 101 85 13 28 27 0 CTSLP4,splice_region_variant,,ENST00000454614,; G ENSG00000230011 ENST00000454614 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1170271908 1 -1 CTSLP4 HGNC HGNC:23645 unprocessed_pseudogene YES 5/6 LOW 1 SNV PASS GAG . . 50706115 PSD . GRCh38 chr10 102410856 102410856 + Splice_Site SNP A A C novel 7316-162 BS_9GHGSRGG A A c.2091+2T>G p.X697_splice ENST00000020673 66 59 6 28 27 0 PSD,splice_donor_variant,,ENST00000020673,NM_002779.4;PSD,splice_donor_variant,,ENST00000406432,NM_001270965.1;PSD,splice_donor_variant,,ENST00000611678,NM_001270966.1;PSD,upstream_gene_variant,,ENST00000461698,;PSD,splice_donor_variant,,ENST00000488194,;PSD,upstream_gene_variant,,ENST00000473507,; C ENSG00000059915 ENST00000020673 Transcript splice_donor_variant 1 -1 PSD HGNC HGNC:9507 protein_coding YES CCDS31272.1 ENSP00000020673 A5PKW4 UPI0000404928 NM_002779.4 10/16 HIGH 1 SNV 1 PASS CAC . . 102410856 SEH1L . GRCh38 chr18 12986928 12986930 + In_Frame_Del DEL TCC TCC - rs769046151 7316-162 BS_9GHGSRGG TCC TCC c.1154_1156del p.Pro385del p.P385del ENST00000399892 9/9 68 56 6 49 43 0 SEH1L,inframe_deletion,p.Pro385del,ENST00000399892,NM_001013437.1;SEH1L,3_prime_UTR_variant,,ENST00000262124,NM_031216.3;CEP192,upstream_gene_variant,,ENST00000325971,;CEP192,upstream_gene_variant,,ENST00000506447,NM_032142.3;CEP192,upstream_gene_variant,,ENST00000589596,;AP002449.1,non_coding_transcript_exon_variant,,ENST00000588211,;SEH1L,downstream_gene_variant,,ENST00000592582,;SEH1L,non_coding_transcript_exon_variant,,ENST00000590843,;CEP192,upstream_gene_variant,,ENST00000507064,;SEH1L,downstream_gene_variant,,ENST00000590032,; - ENSG00000085415 ENST00000399892 Transcript inframe_deletion 1238-1240/1846 1137-1139/1266 379-380/421 LP/L ctTCCt/ctt rs769046151,COSM5081713 1 1 SEH1L HGNC HGNC:30379 protein_coding YES CCDS32791.1 ENSP00000382779 Q96EE3 UPI0000070285 NM_001013437.1 9/9 Low_complexity_(Seg):seg 0,1 MODERATE 1 deletion 1 17 0,1 PASS CTTCCT . . 0.005762 0.008315 0.008071 0.005588 0.01123 0.001448 0.00448 0.008057 0.007342 12986927 ZNF676 . GRCh38 chr19 22180891 22180891 + Missense_Mutation SNP C C T rs764278872 7316-162 BS_9GHGSRGG C C c.826G>A p.Ala276Thr p.A276T ENST00000397121 3/3 77 66 9 41 37 0 ZNF676,missense_variant,p.Ala276Thr,ENST00000397121,NM_001001411.2; T ENSG00000196109 ENST00000397121 Transcript missense_variant 1144/2944 826/1767 276/588 A/T Gct/Act rs764278872,COSM4746396 1 -1 ZNF676 HGNC HGNC:20429 protein_coding YES CCDS42539.1 ENSP00000380310 Q8N7Q3 UPI00002376EC NM_001001411.2 tolerated(1) benign(0.026) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS GCA . . 6.374e-06 5.295e-05 22180891 AL606490.2 . GRCh38 chrX 48448461 48448461 + Splice_Site SNP G G A rs1316141753 7316-162 BS_9GHGSRGG G G n.97-2C>T ENST00000457562 31 22 9 11 11 0 AL606490.2,splice_acceptor_variant,,ENST00000457562,; A ENSG00000226971 ENST00000457562 Transcript splice_acceptor_variant,non_coding_transcript_variant rs1316141753 1 -1 AL606490.2 Clone_based_ensembl_gene processed_pseudogene YES 1/2 HIGH 1 SNV PASS CGG . . 48448461 IGFN1 . GRCh38 chr1 201209539 201209539 + Missense_Mutation SNP C C G rs199718718 7316-459 BS_0TEYTQJY C C c.4646C>G p.Thr1549Arg p.T1549R ENST00000335211 12/24 78 62 12 39 36 0 IGFN1,missense_variant,p.Thr1549Arg,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 4776/11810 4646/11127 1549/3708 T/R aCg/aGg rs199718718,COSM4143162 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated_low_confidence(0.58) unknown(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS ACG . . 0.0004415 0.0009248 0.0005075 0.002509 0.0003747 0.001184 0.0001698 201209539 IARS2 . GRCh38 chr1 220110863 220110863 + Missense_Mutation SNP A A T novel 7316-459 BS_0TEYTQJY A A c.1405A>T p.Thr469Ser p.T469S ENST00000366922 11/23 67 58 6 38 38 0 IARS2,missense_variant,p.Thr469Ser,ENST00000366922,NM_018060.3;IARS2,upstream_gene_variant,,ENST00000490891,; T ENSG00000067704 ENST00000366922 Transcript missense_variant 1520/3560 1405/3039 469/1012 T/S Acc/Tcc 1 1 IARS2 HGNC HGNC:29685 protein_coding YES CCDS1523.1 ENSP00000355889 Q9NSE4 UPI000035B256 NM_018060.3 tolerated(0.08) probably_damaging(0.999) 11/23 HAMAP:MF_02002,hmmpanther:PTHR42765,hmmpanther:PTHR42765:SF1,Pfam_domain:PF00133,TIGRFAM_domain:TIGR00392,Gene3D:3.40.50.620,Superfamily_domains:SSF52374,Prints_domain:PR00984 MODERATE 1 SNV 1 1 PASS GAC . . 220110863 GPAT2 . GRCh38 chr2 96023181 96023181 + Missense_Mutation SNP G G A rs201647131 7316-459 BS_0TEYTQJY G G c.2074C>T p.Arg692Cys p.R692C ENST00000434632 20/23 82 67 13 28 28 0 GPAT2,missense_variant,p.Arg692Cys,ENST00000434632,NM_001321525.1,NM_001321531.1;GPAT2,missense_variant,p.Arg692Cys,ENST00000359548,NM_001321526.1,NM_207328.3,NM_001321527.1,NM_001321528.1;GPAT2,missense_variant,p.Arg621Cys,ENST00000453542,NM_001321530.1,NM_001321529.1;FAHD2CP,non_coding_transcript_exon_variant,,ENST00000467292,;FAHD2CP,non_coding_transcript_exon_variant,,ENST00000443258,;FAHD2CP,downstream_gene_variant,,ENST00000483000,;FAHD2CP,downstream_gene_variant,,ENST00000607780,;GPAT2,non_coding_transcript_exon_variant,,ENST00000482704,;GPAT2,non_coding_transcript_exon_variant,,ENST00000471757,;GPAT2,non_coding_transcript_exon_variant,,ENST00000486463,;GPAT2,non_coding_transcript_exon_variant,,ENST00000484440,;,regulatory_region_variant,,ENSR00000120216,;,regulatory_region_variant,,ENSR00000292342,;FAHD2CP,downstream_gene_variant,,ENST00000427863,; A ENSG00000186281 ENST00000434632 Transcript missense_variant 2534/3061 2074/2388 692/795 R/C Cgc/Tgc rs201647131,COSM224198 1 -1 GPAT2 HGNC HGNC:27168 protein_coding YES CCDS42714.1 ENSP00000389395 Q6NUI2 UPI0000E5E123 NM_001321525.1,NM_001321531.1 deleterious(0) benign(0.267) 20/23 hmmpanther:PTHR12563,hmmpanther:PTHR12563:SF15,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 5 0,1 PASS CGG . . 0.02199 0.005302 0.002664 0.009192 0.003013 0.1509 0.02303 0.01173 0.001606 96023181 ANAPC1 . GRCh38 chr2 111856852 111856852 + Nonsense_Mutation SNP G G A rs72936240 7316-459 BS_0TEYTQJY G G c.1393C>T p.Gln465Ter p.Q465* ENST00000341068 12/48 101 85 12 31 31 0 ANAPC1,stop_gained,p.Gln465Ter,ENST00000341068,NM_022662.3;ANAPC1,upstream_gene_variant,,ENST00000427997,;ANAPC1,non_coding_transcript_exon_variant,,ENST00000482177,; A ENSG00000153107 ENST00000341068 Transcript stop_gained 2166/8262 1393/5835 465/1944 Q/* Cag/Tag rs72936240,COSM4132995 1 -1 ANAPC1 HGNC HGNC:19988 protein_coding YES CCDS2093.1 ENSP00000339109 Q9H1A4 UPI000006EC6E NM_022662.3 12/48 PDB-ENSP_mappings:4ui9.A,PDB-ENSP_mappings:5a31.A,PDB-ENSP_mappings:5g04.A,PDB-ENSP_mappings:5g05.A,PDB-ENSP_mappings:5khr.A,PDB-ENSP_mappings:5khu.A,PDB-ENSP_mappings:5l9t.A,PDB-ENSP_mappings:5l9u.A,PDB-ENSP_mappings:5lcw.A,PDB-ENSP_mappings:5lgg.A,hmmpanther:PTHR12827 benign 0,1 HIGH 1 SNV 1 0,1 PASS TGG . . 0.3299 0.2486 0.2675 0.3601 0.1896 0.4279 0.3629 0.3012 0.3269 111856852 OBSL1 . GRCh38 chr2 219552633 219552634 + Frame_Shift_Ins INS - - GTAG novel 7316-459 BS_0TEYTQJY - - c.5207_5210dup p.Phe1738TyrfsTer42 p.F1738Yfs*42 ENST00000404537 18/21 98 75 10 27 27 0 OBSL1,frameshift_variant,p.Phe1738TyrfsTer42,ENST00000404537,NM_015311.2;OBSL1,frameshift_variant,p.Phe1646TyrfsTer42,ENST00000373876,;TMEM198,downstream_gene_variant,,ENST00000344458,NM_001303098.1;TMEM198,downstream_gene_variant,,ENST00000373883,NM_001005209.2;TMEM198,downstream_gene_variant,,ENST00000421791,;OBSL1,downstream_gene_variant,,ENST00000456147,;OBSL1,downstream_gene_variant,,ENST00000603926,NM_001173431.1;OBSL1,downstream_gene_variant,,ENST00000604031,;MIR3132,upstream_gene_variant,,ENST00000581997,;AC009955.3,upstream_gene_variant,,ENST00000596829,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,non_coding_transcript_exon_variant,,ENST00000489804,;OBSL1,upstream_gene_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000472388,;OBSL1,downstream_gene_variant,,ENST00000596474,;,regulatory_region_variant,,ENSR00000130574,; GTAG ENSG00000124006 ENST00000404537 Transcript frameshift_variant 5267-5268/5841 5210-5211/5691 1737/1896 T/TYX acg/acCTACg 1 -1 OBSL1 HGNC HGNC:29092 protein_coding YES CCDS46520.1 ENSP00000385636 O75147 UPI0000E07EA0 NM_015311.2 18/21 cd00096,hmmpanther:PTHR13817:SF30,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726 HIGH 1 insertion 1 1 PASS ACG . . 219552633 SNX4 . GRCh38 chr3 125460867 125460867 + Splice_Region SNP T T A rs9879494 7316-459 BS_0TEYTQJY T T c.855-7A>T ENST00000251775 66 60 5 42 41 0 SNX4,splice_region_variant,,ENST00000251775,NM_003794.3;SNX4,upstream_gene_variant,,ENST00000482965,;SNX4,splice_region_variant,,ENST00000471751,; A ENSG00000114520 ENST00000251775 Transcript splice_region_variant,intron_variant rs9879494 1 -1 SNX4 HGNC HGNC:11175 protein_coding YES CCDS3032.1 ENSP00000251775 O95219 UPI000003586D NM_003794.3 9/13 0.0256 0.0877 0.0159 0.001 0.02501 0.0002327 LOW 1 SNV 1 PASS TTA . . 0.01156 0.1216 0.0136 0.00467 0.0001476 7.294e-05 0.001137 0.008065 0.0008855 125460867 MUC4 . GRCh38 chr3 195783950 195783950 + Missense_Mutation SNP A A G rs202180756 7316-459 BS_0TEYTQJY A A c.7630T>C p.Ser2544Pro p.S2544P ENST00000463781 2/25 85 63 12 27 25 0 MUC4,missense_variant,p.Ser2544Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser2544Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser2544Pro,ENST00000478156,;MUC4,missense_variant,p.Ser2544Pro,ENST00000466475,;MUC4,missense_variant,p.Ser2544Pro,ENST00000477756,;MUC4,missense_variant,p.Ser2544Pro,ENST00000477086,;MUC4,missense_variant,p.Ser2544Pro,ENST00000480843,;MUC4,missense_variant,p.Ser2544Pro,ENST00000462323,;MUC4,missense_variant,p.Ser2544Pro,ENST00000470451,;MUC4,missense_variant,p.Ser2544Pro,ENST00000479406,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 8090/17110 7630/16239 2544/5412 S/P Tct/Cct rs202180756,COSM5048253 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.26) benign(0.316) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GAG . . 0.01929 0.02088 0.01188 0.008632 0.0007097 0.006659 0.02282 0.01915 0.03774 195783950 LIX1 . GRCh38 chr5 97105246 97105246 + Missense_Mutation SNP C C T 7316-459 BS_0TEYTQJY C C c.427G>A p.Gly143Arg p.G143R ENST00000274382 4/6 106 95 9 57 56 0 LIX1,missense_variant,p.Gly143Arg,ENST00000274382,NM_153234.4;LIX1,downstream_gene_variant,,ENST00000512378,;LIX1-AS1,intron_variant,,ENST00000504578,; T ENSG00000145721 ENST00000274382 Transcript missense_variant 723/4026 427/849 143/282 G/R Ggg/Agg COSM6535649,COSM4440014 1 -1 LIX1 HGNC HGNC:18581 protein_coding YES CCDS4088.1 ENSP00000274382 Q8N485 UPI000007388A NM_153234.4 deleterious(0) benign(0.145) 4/6 hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF5,Pfam_domain:PF14954 1,1 MODERATE 1 SNV 1 1,1 PASS CCA . . 97105246 CNTLN . GRCh38 chr9 17394704 17394704 + Missense_Mutation SNP T T G novel 7316-459 BS_0TEYTQJY T T c.2250T>G p.Ser750Arg p.S750R ENST00000380647 15/26 97 83 6 43 43 0 CNTLN,missense_variant,p.Ser750Arg,ENST00000380647,NM_017738.3; G ENSG00000044459 ENST00000380647 Transcript missense_variant 2334/5576 2250/4221 750/1406 S/R agT/agG 1 1 CNTLN HGNC HGNC:23432 protein_coding YES CCDS43789.1 ENSP00000370021 Q9NXG0 UPI0000458809 NM_017738.3 tolerated(0.44) benign(0.332) 15/26 Gene3D:1.20.120.330,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957 MODERATE 1 SNV 1 PASS GTA . . 17394704 SAA2 . GRCh38 chr11 18245931 18245931 + Missense_Mutation SNP G G A rs79620496 7316-459 BS_0TEYTQJY G G c.209C>T p.Ala70Val p.A70V ENST00000526900 3/4 102 89 10 38 37 0 SAA2,missense_variant,p.Ala70Val,ENST00000414546,NM_001127380.2;SAA2,missense_variant,p.Ala70Val,ENST00000528349,;SAA2-SAA4,missense_variant,p.Ala70Val,ENST00000524555,NM_001199744.1;SAA2,missense_variant,p.Ala70Val,ENST00000526900,;SAA2,missense_variant,p.Ala70Val,ENST00000529528,;SAA2,missense_variant,p.Ala70Val,ENST00000256733,NM_030754.4;SAA2,missense_variant,p.Ala70Val,ENST00000530400,;RNA5SP333,downstream_gene_variant,,ENST00000363466,; A ENSG00000134339 ENST00000526900 Transcript missense_variant 393/687 209/369 70/122 A/V gCc/gTc rs79620496,COSM304951 1 -1 SAA2 HGNC HGNC:10514 protein_coding YES CCDS7833.1 ENSP00000436126 P0DJI9 UPI000016A553 tolerated(0.53) benign(0.003) 3/4 hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF7,PROSITE_patterns:PS00992,PIRSF_domain:PIRSF002472,Pfam_domain:PF00277,SMART_domains:SM00197,Prints_domain:PR00306 0,1 MODERATE 1 SNV 2 0,1 PASS GGC . . 0.253 0.1924 0.1953 0.1803 0.09288 0.3457 0.3184 0.2376 0.1726 18245931 FAM186A . GRCh38 chr12 50331826 50331826 + Splice_Region DEL A A - rs568054714 7316-459 BS_0TEYTQJY A A c.6697-5del ENST00000327337 71 58 6 36 34 0 FAM186A,splice_region_variant,,ENST00000327337,NM_001145475.1;FAM186A,splice_region_variant,,ENST00000543096,;FAM186A,splice_region_variant,,ENST00000543111,;FAM186A,intron_variant,,ENST00000539751,; - ENSG00000185958 ENST00000327337 Transcript splice_region_variant,intron_variant rs568054714 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 5/7 0.003497 0.002934 LOW 1 deletion 5 PASS ATAA . . 0.00177 0.001891 0.002225 0.006695 0.001177 0.0007795 0.001182 0.005544 0.002051 50331825 ALDH1L2 . GRCh38 chr12 105046969 105046969 + Missense_Mutation SNP C C A novel 7316-459 BS_0TEYTQJY C C c.1687G>T p.Gly563Cys p.G563C ENST00000258494 14/23 86 78 5 30 30 0 ALDH1L2,missense_variant,p.Gly563Cys,ENST00000258494,NM_001034173.3;C12orf45,intron_variant,,ENST00000548583,;C12orf45,intron_variant,,ENST00000622317,;C12orf45,intron_variant,,ENST00000637147,;ALDH1L2,splice_region_variant,,ENST00000549335,;ALDH1L2,splice_region_variant,,ENST00000552270,;C12orf45,intron_variant,,ENST00000547750,; A ENSG00000136010 ENST00000258494 Transcript missense_variant,splice_region_variant 1828/7547 1687/2772 563/923 G/C Ggt/Tgt 1 -1 ALDH1L2 HGNC HGNC:26777 protein_coding YES CCDS31891.1 ENSP00000258494 Q3SY69 UPI00000477A9 NM_001034173.3 deleterious(0) probably_damaging(0.999) 14/23 cd07140,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF131,PIRSF_domain:PIRSF036489,Gene3D:3.40.605.10,Pfam_domain:PF00171,Superfamily_domains:SSF53720 MODERATE 1 SNV 1 PASS CCC . . 105046969 SEC14L5 . GRCh38 chr16 4991901 4991901 + Missense_Mutation SNP C C T rs774706819 7316-459 BS_0TEYTQJY C C c.538C>T p.Arg180Cys p.R180C ENST00000251170 6/16 99 89 9 33 33 0 SEC14L5,missense_variant,p.Arg180Cys,ENST00000251170,NM_014692.1;SEC14L5,downstream_gene_variant,,ENST00000587469,; T ENSG00000103184 ENST00000251170 Transcript missense_variant 718/6459 538/2091 180/696 R/C Cgc/Tgc rs774706819,COSM1563083 1 1 SEC14L5 HGNC HGNC:29032 protein_coding YES CCDS45403.1 ENSP00000251170 O43304 UPI00001C1FA3 NM_014692.1 deleterious(0) possibly_damaging(0.776) 6/16 mobidb-lite,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF39 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 2.099e-05 3.676e-05 3.359e-05 4991901 ASPHD1 . GRCh38 chr16 29901040 29901040 + Missense_Mutation SNP T T G novel 7316-459 BS_0TEYTQJY T T c.69T>G p.Ser23Arg p.S23R ENST00000308748 1/3 67 55 9 17 17 0 ASPHD1,missense_variant,p.Ser23Arg,ENST00000308748,NM_181718.3;ASPHD1,intron_variant,,ENST00000483405,;ASPHD1,intron_variant,,ENST00000563177,;SEZ6L2,upstream_gene_variant,,ENST00000308713,NM_201575.3,NM_001114099.2;SEZ6L2,upstream_gene_variant,,ENST00000346932,NM_001114100.2;SEZ6L2,upstream_gene_variant,,ENST00000350527,NM_012410.3;SEZ6L2,upstream_gene_variant,,ENST00000537485,NM_001243333.1;SEZ6L2,upstream_gene_variant,,ENST00000568380,;SEZ6L2,upstream_gene_variant,,ENST00000617533,NM_001243332.1;SEZ6L2,upstream_gene_variant,,ENST00000562159,;ASPHD1,missense_variant,p.Ser23Arg,ENST00000566693,;ASPHD1,missense_variant,p.Ser23Arg,ENST00000414952,;KCTD13,downstream_gene_variant,,ENST00000308768,;,regulatory_region_variant,,ENSR00000085125,; G ENSG00000174939 ENST00000308748 Transcript missense_variant 321/1584 69/1173 23/390 S/R agT/agG 1 1 ASPHD1 HGNC HGNC:27380 protein_coding YES CCDS10660.1 ENSP00000311447 Q5U4P2 UPI0000197DF0 NM_181718.3 tolerated_low_confidence(0.21) benign(0) 1/3 hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF27,mobidb-lite MODERATE 1 SNV 1 PASS GTG . . 29901040 DDX27 . GRCh38 chr20 49224967 49224969 + In_Frame_Del DEL GAA GAA - rs550509569 7316-459 BS_0TEYTQJY GAA GAA c.597_599del p.Lys200del p.K200del ENST00000622530 5/21 72 59 5 42 37 0 DDX27,inframe_deletion,p.Lys200del,ENST00000622530,NM_017895.7;DDX27,inframe_deletion,p.Lys200del,ENST00000371764,;DDX27,inframe_deletion,p.Lys169del,ENST00000618172,;DDX27,inframe_deletion,p.Lys11del,ENST00000493252,;DDX27,3_prime_UTR_variant,,ENST00000462328,;DDX27,non_coding_transcript_exon_variant,,ENST00000484427,; - ENSG00000124228 ENST00000622530 Transcript inframe_deletion 643-645/2693 582-584/2391 194-195/796 RK/R cgGAAg/cgg rs550509569 1 1 DDX27 HGNC HGNC:15837 protein_coding YES CCDS13416.1 ENSP00000483495 Q96GQ7 UPI0000140DCA NM_017895.7 5/21 Gene3D:3.40.50.300,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF541,Low_complexity_(Seg):seg 0.0010 0.0008 0.0058 MODERATE 1 deletion 1 15 PASS CGGAAG . . 1.641e-05 9.069e-05 9.025e-06 49224966 PRAMEF10 . GRCh38 chr1 12893050 12893050 + Missense_Mutation SNP T T C rs1201586855 7316-397 BS_MN13H3T4 T T c.1291A>G p.Thr431Ala p.T431A ENST00000235347 4/4 58 47 10 21 21 0 PRAMEF10,missense_variant,p.Thr431Ala,ENST00000235347,NM_001039361.4; C ENSG00000187545 ENST00000235347 Transcript missense_variant 1371/1525 1291/1425 431/474 T/A Acc/Gcc rs1201586855 1 -1 PRAMEF10 HGNC HGNC:27997 protein_coding YES CCDS41255.1 ENSP00000235347 O60809 UPI000442CF00 NM_001039361.4 tolerated(1) benign(0) 4/4 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF28 MODERATE 1 SNV 1 PASS GTG . . 1.407e-05 0.0001323 12893050 TAS1R2 . GRCh38 chr1 18849343 18849343 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1465A>C p.Thr489Pro p.T489P ENST00000375371 4/6 97 75 15 27 26 0 TAS1R2,missense_variant,p.Thr489Pro,ENST00000375371,NM_152232.2;AL080251.1,3_prime_UTR_variant,,ENST00000494072,; G ENSG00000179002 ENST00000375371 Transcript missense_variant,splice_region_variant 1487/2542 1465/2520 489/839 T/P Acg/Ccg 1 -1 TAS1R2 HGNC HGNC:14905 protein_coding YES CCDS187.1 ENSP00000364520 Q8TE23 UPI0000456168 NM_152232.2 deleterious(0.02) possibly_damaging(0.883) 4/6 hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF441 MODERATE 1 SNV 2 PASS GTG . . 18849343 MAN1C1 . GRCh38 chr1 25617799 25617799 + Translation_Start_Site SNP T T G novel 7316-397 BS_MN13H3T4 T T c.2T>G p.Met1? p.M1? ENST00000374332 1/12 69 54 10 31 31 0 MAN1C1,start_lost,p.Met1?,ENST00000374332,NM_001289010.1,NM_020379.3;MAN1C1,5_prime_UTR_variant,,ENST00000611903,;MAN1C1,upstream_gene_variant,,ENST00000263979,;,regulatory_region_variant,,ENSR00000003404,; G ENSG00000117643 ENST00000374332 Transcript start_lost 332/4641 2/1893 1/630 M/R aTg/aGg 1 1 MAN1C1 HGNC HGNC:19080 protein_coding YES CCDS265.1 ENSP00000363452 Q9NR34 UPI000012EABD NM_001289010.1,NM_020379.3 deleterious_low_confidence(0) probably_damaging(0.962) 1/12 HIGH 1 SNV 1 PASS ATG . . 25617799 PHC2 . GRCh38 chr1 33430972 33430972 + Splice_Region SNP T T G novel 7316-397 BS_MN13H3T4 T T n.77+4A>C ENST00000484692 86 76 9 21 21 0 PHC2,splice_region_variant,,ENST00000484692,;,regulatory_region_variant,,ENSR00000004522,; G ENSG00000134686 ENST00000484692 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 PHC2 HGNC HGNC:3183 processed_transcript 1/2 LOW 1 SNV 3 PASS GTT . . 33430972 DLGAP3 . GRCh38 chr1 34868803 34868803 + Missense_Mutation SNP T T G rs758215471 7316-397 BS_MN13H3T4 T T c.2287A>C p.Thr763Pro p.T763P ENST00000373347 9/12 76 65 10 35 34 1 DLGAP3,missense_variant,p.Thr763Pro,ENST00000373347,NM_001080418.2;DLGAP3,missense_variant,p.Thr763Pro,ENST00000235180,; G ENSG00000116544 ENST00000373347 Transcript missense_variant 2556/3856 2287/2940 763/979 T/P Acc/Ccc rs758215471,COSM3966546 1 -1 DLGAP3 HGNC HGNC:30368 protein_coding YES CCDS30670.1 ENSP00000362444 O95886 UPI00003D4D81 NM_001080418.2 tolerated(0.19) possibly_damaging(0.812) 9/12 Gene3D:3.40.50.1980,Pfam_domain:PF03359,hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF4,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 5 0,1 PASS GTG . . 9.472e-05 3.281e-05 0.0001057 0.0001551 0.0001104 34868803 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 79 42 18 18 18 0 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 DMRTB1 . GRCh38 chr1 53459863 53459863 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.410T>G p.Val137Gly p.V137G ENST00000371445 1/4 74 59 14 37 37 0 DMRTB1,missense_variant,p.Val137Gly,ENST00000371445,NM_033067.2;DMRTB1,upstream_gene_variant,,ENST00000463126,; G ENSG00000143006 ENST00000371445 Transcript missense_variant 465/1910 410/1029 137/342 V/G gTt/gGt 1 1 DMRTB1 HGNC HGNC:13913 protein_coding YES CCDS581.1 ENSP00000360500 Q96MA1 UPI000006FF4C NM_033067.2 tolerated(0.31) benign(0.007) 1/4 hmmpanther:PTHR12322:SF66,hmmpanther:PTHR12322 MODERATE 1 SNV 1 PASS GTT . . 53459863 FOXD3 . GRCh38 chr1 63323306 63323306 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.248A>C p.Lys83Thr p.K83T ENST00000371116 1/1 97 78 10 37 37 0 FOXD3,missense_variant,p.Lys83Thr,ENST00000371116,NM_012183.2;MIR6068,downstream_gene_variant,,ENST00000615405,;FOXD3-AS1,intron_variant,,ENST00000427268,;FOXD3-AS1,intron_variant,,ENST00000431294,;FOXD3-AS1,upstream_gene_variant,,ENST00000418244,;FOXD3-AS1,upstream_gene_variant,,ENST00000426393,;FOXD3-AS1,upstream_gene_variant,,ENST00000449386,;,regulatory_region_variant,,ENSR00000007676,; C ENSG00000187140 ENST00000371116 Transcript missense_variant 266/2086 248/1437 83/478 K/T aAg/aCg 1 1 FOXD3 HGNC HGNC:3804 protein_coding YES CCDS624.1 ENSP00000360157 Q9UJU5 UPI000012ADCB NM_012183.2 tolerated(0.1) benign(0) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF162,mobidb-lite MODERATE SNV 1 PASS AAG . . 63323306 RPAP2 . GRCh38 chr1 92299074 92299074 + Translation_Start_Site SNP A A C rs1242428174 7316-397 BS_MN13H3T4 A A c.1A>C p.Met1? p.M1? ENST00000610020 1/13 77 59 12 34 34 0 RPAP2,start_lost,p.Met1?,ENST00000610020,NM_024813.2;GLMN,upstream_gene_variant,,ENST00000370360,NM_001319683.1,NM_053274.2;RPAP2,upstream_gene_variant,,ENST00000484158,;GLMN,upstream_gene_variant,,ENST00000487911,;GLMN,upstream_gene_variant,,ENST00000495106,;,regulatory_region_variant,,ENSR00000009821,; C ENSG00000122484 ENST00000610020 Transcript start_lost 110/16993 1/1839 1/612 M/L Atg/Ctg rs1242428174 1 1 RPAP2 HGNC HGNC:25791 protein_coding YES CCDS740.1 ENSP00000476948 Q8IXW5 UPI0000074323 NM_024813.2 deleterious_low_confidence(0) possibly_damaging(0.661) 1/13 mobidb-lite HIGH 1 SNV 1 PASS CAT . . 92299074 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 110 92 15 28 27 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 RXFP4 . GRCh38 chr1 155941746 155941746 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.37T>G p.Phe13Val p.F13V ENST00000368318 1/1 84 69 12 28 28 0 RXFP4,missense_variant,p.Phe13Val,ENST00000368318,NM_181885.2;,regulatory_region_variant,,ENSR00000014123,; G ENSG00000173080 ENST00000368318 Transcript missense_variant 37/1240 37/1125 13/374 F/V Ttc/Gtc 1 1 RXFP4 HGNC HGNC:14666 protein_coding YES CCDS1124.1 ENSP00000357301 Q8TDU9 UPI0000048F6E NM_181885.2 tolerated(0.46) benign(0) 1/1 hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF32,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS ATT . . 155941746 KCNJ9 . GRCh38 chr1 160084044 160084044 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.14A>C p.Asn5Thr p.N5T ENST00000368088 2/3 70 48 11 28 28 0 KCNJ9,missense_variant,p.Asn5Thr,ENST00000368088,NM_004983.2;AL121987.1,downstream_gene_variant,,ENST00000435580,;,regulatory_region_variant,,ENSR00000014498,; C ENSG00000162728 ENST00000368088 Transcript missense_variant 256/4170 14/1182 5/393 N/T aAc/aCc 1 1 KCNJ9 HGNC HGNC:6270 protein_coding YES CCDS1194.1 ENSP00000357067 Q92806 UPI000013E1B3 NM_004983.2 tolerated(0.19) benign(0.017) 2/3 mobidb-lite,hmmpanther:PTHR11767:SF17,hmmpanther:PTHR11767,PIRSF_domain:PIRSF005465,Prints_domain:PR01329 MODERATE 1 SNV 1 PASS AAC . . 160084044 XCL2 . GRCh38 chr1 168542083 168542083 + Missense_Mutation SNP C C T rs4501820 7316-397 BS_MN13H3T4 C C c.86G>A p.Arg29Lys p.R29K ENST00000367819 2/3 35 29 5 22 22 0 XCL2,missense_variant,p.Arg29Lys,ENST00000367819,NM_003175.3;AL031736.1,upstream_gene_variant,,ENST00000449688,; T ENSG00000143185 ENST00000367819 Transcript missense_variant 119/565 86/345 29/114 R/K aGg/aAg rs4501820,COSM1579705 1 -1 XCL2 HGNC HGNC:10646 protein_coding YES CCDS1273.1 ENSP00000356793 Q9UBD3 UPI0000136343 NM_003175.3 tolerated(1) benign(0) 2/3 Gene3D:2.40.50.40,Prints_domain:PR01731,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF101,SMART_domains:SM00199,Superfamily_domains:SSF54117,cd00271 0.1196 0.0121 0.1599 0.3254 0.0636 0.0818 0.003434 0.02846 0,1 MODERATE 1 SNV 1 0,1 PASS CCT . . 0.07245 0.03178 0.1215 0.0385 0.2745 0.02757 0.05952 0.08371 0.06089 168542083 XCL2 . GRCh38 chr1 168542087 168542087 + Missense_Mutation SNP G G C rs4301615 7316-397 BS_MN13H3T4 G G c.82C>G p.His28Asp p.H28D ENST00000367819 2/3 36 30 5 23 23 0 XCL2,missense_variant,p.His28Asp,ENST00000367819,NM_003175.3;AL031736.1,upstream_gene_variant,,ENST00000449688,; C ENSG00000143185 ENST00000367819 Transcript missense_variant 115/565 82/345 28/114 H/D Cat/Gat rs4301615,COSM3746152 1 -1 XCL2 HGNC HGNC:10646 protein_coding YES CCDS1273.1 ENSP00000356793 Q9UBD3 UPI0000136343 NM_003175.3 tolerated(0.39) benign(0) 2/3 Gene3D:2.40.50.40,Prints_domain:PR01731,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF101,SMART_domains:SM00199,Superfamily_domains:SSF54117,cd00271 0.1204 0.0144 0.1614 0.3254 0.0636 0.0818 0.004581 0.03587 0,1 MODERATE 1 SNV 1 0,1 PASS TGT . . 0.06362 0.02768 0.1043 0.03624 0.2231 0.02633 0.05644 0.07571 0.05184 168542087 MAPKAPK2 . GRCh38 chr1 206685269 206685269 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.40T>G p.Phe14Val p.F14V ENST00000367103 1/10 63 51 10 35 32 1 MAPKAPK2,missense_variant,p.Phe14Val,ENST00000367103,NM_032960.3;MAPKAPK2,missense_variant,p.Phe14Val,ENST00000294981,NM_004759.4;DYRK3,downstream_gene_variant,,ENST00000489878,;,regulatory_region_variant,,ENSR00000019020,; G ENSG00000162889 ENST00000367103 Transcript missense_variant 233/2961 40/1203 14/400 F/V Ttc/Gtc 1 1 MAPKAPK2 HGNC HGNC:6887 protein_coding YES CCDS31001.1 ENSP00000356070 P49137 UPI0000112289 NM_032960.3 tolerated_low_confidence(0.58) benign(0.011) 1/10 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 206685269 OBSCN . GRCh38 chr1 228372123 228372123 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.24216T>G p.Ser8072Arg p.S8072R ENST00000570156 105/116 92 81 10 20 20 0 OBSCN,missense_variant,p.Ser8072Arg,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Ser8072Arg,ENST00000366707,;OBSCN,missense_variant,p.Ser7115Arg,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Ser7115Arg,ENST00000636875,;OBSCN,missense_variant,p.Ser1732Arg,ENST00000636476,; G ENSG00000154358 ENST00000570156 Transcript missense_variant 24290/26925 24216/26772 8072/8923 S/R agT/agG 1 1 OBSCN HGNC HGNC:15719 protein_coding YES CCDS59204.1 ENSP00000455507 A6NGQ3 UPI00027FCDB5 NM_001271223.2 deleterious(0.01) benign(0.017) 105/116 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTT . . 228372123 ABCB10 . GRCh38 chr1 229558301 229558301 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.352T>G p.Phe118Val p.F118V ENST00000344517 1/13 99 81 15 32 31 0 ABCB10,missense_variant,p.Phe118Val,ENST00000344517,NM_012089.2;,regulatory_region_variant,,ENSR00000021492,; C ENSG00000135776 ENST00000344517 Transcript missense_variant 395/3857 352/2217 118/738 F/V Ttc/Gtc 1 -1 ABCB10 HGNC HGNC:41 protein_coding YES CCDS1580.1 ENSP00000355637 Q9NRK6 UPI000013CFBF NM_012089.2 tolerated_low_confidence(0.09) benign(0) 1/13 PDB-ENSP_mappings:4ayw.A,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 229558301 FAM89A . GRCh38 chr1 231040174 231040174 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.38A>C p.Asn13Thr p.N13T ENST00000366654 1/2 78 63 13 25 23 1 FAM89A,missense_variant,p.Asn13Thr,ENST00000366654,NM_198552.2;,regulatory_region_variant,,ENSR00000021676,; G ENSG00000182118 ENST00000366654 Transcript missense_variant 73/1495 38/555 13/184 N/T aAc/aCc 1 -1 FAM89A HGNC HGNC:25057 protein_coding YES CCDS1590.1 ENSP00000355614 Q96GI7 UPI000006D6ED NM_198552.2 tolerated(0.59) benign(0.01) 1/2 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 231040174 CYS1 . GRCh38 chr2 10080223 10080223 + Translation_Start_Site SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1A>C p.Met1? p.M1? ENST00000381813 1/3 67 45 14 33 31 0 CYS1,start_lost,p.Met1?,ENST00000381813,NM_001037160.2;AC104794.1,upstream_gene_variant,,ENST00000425235,;CYS1,intron_variant,,ENST00000477304,;,regulatory_region_variant,,ENSR00000112720,; G ENSG00000205795 ENST00000381813 Transcript start_lost 189/2738 1/477 1/158 M/L Atg/Ctg 1 -1 CYS1 HGNC HGNC:18525 protein_coding YES CCDS33145.1 ENSP00000371234 Q717R9 UPI00001D6281 NM_001037160.2 deleterious(0) benign(0.274) 1/3 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 10080223 HAAO . GRCh38 chr2 42788613 42788613 + Splice_Region SNP A A C novel 7316-397 BS_MN13H3T4 A A c.81-6T>G ENST00000294973 79 66 12 23 21 1 HAAO,splice_region_variant,,ENST00000294973,NM_012205.2;HAAO,splice_region_variant,,ENST00000431905,;HAAO,splice_region_variant,,ENST00000402268,;HAAO,splice_region_variant,,ENST00000402698,;HAAO,splice_region_variant,,ENST00000404451,;HAAO,splice_region_variant,,ENST00000406924,; C ENSG00000162882 ENST00000294973 Transcript splice_region_variant,intron_variant 1 -1 HAAO HGNC HGNC:4796 protein_coding YES CCDS33187.1 ENSP00000294973 P46952 UPI000007068E NM_012205.2 1/9 LOW 1 SNV 1 1 PASS AAT . . 42788613 ZFP36L2 . GRCh38 chr2 43225572 43225572 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.232T>G p.Phe78Val p.F78V ENST00000282388 2/2 95 81 11 28 28 0 ZFP36L2,missense_variant,p.Phe78Val,ENST00000282388,NM_006887.4;LINC01126,upstream_gene_variant,,ENST00000623515,;AC010883.1,upstream_gene_variant,,ENST00000423354,;,regulatory_region_variant,,ENSR00000116141,; C ENSG00000152518 ENST00000282388 Transcript missense_variant 526/3696 232/1485 78/494 F/V Ttc/Gtc 1 -1 ZFP36L2 HGNC HGNC:1108 protein_coding YES CCDS1811.1 ENSP00000282388 P47974 UPI000013DCDA NM_006887.4 deleterious(0) benign(0.012) 2/2 Pfam_domain:PF04553,hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF100 MODERATE 1 SNV 1 PASS AAC . . 43225572 SIX3 . GRCh38 chr2 44942211 44942211 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.107A>C p.Asn36Thr p.N36T ENST00000260653 1/2 75 61 12 27 27 0 SIX3,missense_variant,p.Asn36Thr,ENST00000260653,NM_005413.3;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;LINC01833,upstream_gene_variant,,ENST00000437916,;LINC01833,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;RF02250,downstream_gene_variant,,ENST00000611000,;RF02251,downstream_gene_variant,,ENST00000620790,;RF02252,downstream_gene_variant,,ENST00000621512,;,regulatory_region_variant,,ENSR00000116339,; C ENSG00000138083 ENST00000260653 Transcript missense_variant 314/2523 107/999 36/332 N/T aAc/aCc 1 1 SIX3 HGNC HGNC:10889 protein_coding YES CCDS1821.1 ENSP00000260653 O95343 UPI00001359C4 NM_005413.3 tolerated_low_confidence(0.51) benign(0) 1/2 hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 44942211 MSH6 . GRCh38 chr2 47783492 47783492 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.259A>C p.Ser87Arg p.S87R ENST00000234420 1/10 80 55 12 24 24 0 MSH6,missense_variant,p.Ser87Arg,ENST00000234420,NM_000179.2;MSH6,missense_variant,p.Ser86Arg,ENST00000616033,;MSH6,splice_region_variant,,ENST00000622629,;MSH6,splice_region_variant,,ENST00000614496,NM_001281493.1;MSH6,intron_variant,,ENST00000540021,NM_001281492.1;MSH6,intron_variant,,ENST00000606499,;MSH6,upstream_gene_variant,,ENST00000411819,;MSH6,upstream_gene_variant,,ENST00000420813,;MSH6,upstream_gene_variant,,ENST00000455383,;MSH6,upstream_gene_variant,,ENST00000538136,NM_001281494.1;RF00026,downstream_gene_variant,,ENST00000636749,;MSH6,splice_region_variant,,ENST00000493177,;MSH6,missense_variant,p.Ser87Arg,ENST00000445503,;MSH6,splice_region_variant,p.Arg87=,ENST00000456246,;,regulatory_region_variant,,ENSR00000116858,; C ENSG00000116062 ENST00000234420 Transcript missense_variant,splice_region_variant 411/7476 259/4083 87/1360 S/R Agt/Cgt 1 1 MSH6 HGNC HGNC:7329 protein_coding YES CCDS1836.1 ENSP00000234420 P52701 UPI00000405F8 NM_000179.2 tolerated(0.27) benign(0.257) 1/10 PIRSF_domain:PIRSF037677,Gene3D:2.30.30.140,Superfamily_domains:SSF63748 MODERATE 1 SNV 1 1 PASS CAG . . 47783492 DCAF17 . GRCh38 chr2 171434600 171434600 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.23A>C p.Asn8Thr p.N8T ENST00000375255 1/14 78 68 8 35 35 0 DCAF17,missense_variant,p.Asn8Thr,ENST00000375255,NM_025000.3;DCAF17,missense_variant,p.Asn8Thr,ENST00000539783,NM_001164821.1;METTL8,intron_variant,,ENST00000442778,;METTL8,intron_variant,,ENST00000453846,;METTL8,intron_variant,,ENST00000612742,NM_001321154.1,NM_001321155.1,NM_001321159.1,NM_001321157.1,NM_024770.4,NM_001321158.1,NM_001321156.1;METTL8,upstream_gene_variant,,ENST00000375258,;METTL8,upstream_gene_variant,,ENST00000392599,;METTL8,upstream_gene_variant,,ENST00000442541,;METTL8,intron_variant,,ENST00000460188,;METTL8,intron_variant,,ENST00000462821,;DCAF17,intron_variant,,ENST00000468592,;METTL8,upstream_gene_variant,,ENST00000460539,;DCAF17,upstream_gene_variant,,ENST00000490217,;DCAF17,upstream_gene_variant,,ENST00000495925,;METTL8,upstream_gene_variant,,ENST00000392604,;DCAF17,upstream_gene_variant,,ENST00000436317,;METTL8,upstream_gene_variant,,ENST00000447486,;,regulatory_region_variant,,ENSR00000126196,;,TF_binding_site_variant,,PB0020.1,; C ENSG00000115827 ENST00000375255 Transcript missense_variant 350/5828 23/1563 8/520 N/T aAc/aCc 1 1 DCAF17 HGNC HGNC:25784 protein_coding YES CCDS2243.2 ENSP00000364404 Q5H9S7 UPI00004C429A NM_025000.3 deleterious(0.01) benign(0.168) 1/14 hmmpanther:PTHR14815 MODERATE 1 SNV 1 1 PASS AAC . . 171434600 DNER . GRCh38 chr2 229714260 229714260 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.164A>C p.Asn55Thr p.N55T ENST00000341772 1/13 93 83 8 34 33 0 DNER,missense_variant,p.Asn55Thr,ENST00000341772,NM_139072.3; G ENSG00000187957 ENST00000341772 Transcript missense_variant 299/3260 164/2214 55/737 N/T aAt/aCt 1 -1 DNER HGNC HGNC:24456 protein_coding YES CCDS33390.1 ENSP00000345229 Q8NFT8 UPI0000048EB8 NM_139072.3 deleterious(0) benign(0) 1/13 Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR44868,SMART_domains:SM00181,Superfamily_domains:SSF57196 MODERATE 1 SNV 1 PASS ATT . . 229714260 PTMA . GRCh38 chr2 231708749 231708749 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.43A>C p.Lys15Gln p.K15Q ENST00000341369 1/5 103 84 14 33 31 1 PTMA,missense_variant,p.Lys15Gln,ENST00000409115,NM_002823.4;PTMA,missense_variant,p.Lys15Gln,ENST00000341369,NM_001099285.1;PTMA,missense_variant,p.Lys15Gln,ENST00000409683,;PTMA,missense_variant,p.Lys36Gln,ENST00000409321,;PTMA,upstream_gene_variant,,ENST00000410064,;PTMA,upstream_gene_variant,,ENST00000412128,;PTMA,upstream_gene_variant,,ENST00000440384,;MIR1244-1,upstream_gene_variant,,ENST00000612829,;RF00015,upstream_gene_variant,,ENST00000617137,;PTMA,intron_variant,,ENST00000466801,;PTMA,splice_region_variant,,ENST00000481928,;PTMA,splice_region_variant,,ENST00000468027,;PTMA,intron_variant,,ENST00000448874,;PTMA,upstream_gene_variant,,ENST00000467816,;,regulatory_region_variant,,ENSR00000131869,; C ENSG00000187514 ENST00000341369 Transcript missense_variant,splice_region_variant 234/1212 43/336 15/111 K/Q Aag/Cag 1 1 PTMA HGNC HGNC:9623 protein_coding YES CCDS42833.1 ENSP00000344547 P06454 UPI0000047512 NM_001099285.1 tolerated(0.06) probably_damaging(0.975) 1/5 mobidb-lite,hmmpanther:PTHR22745,hmmpanther:PTHR22745:SF0,Pfam_domain:PF03247 MODERATE 1 SNV 1 PASS CAA . . 231708749 TRIM71 . GRCh38 chr3 32818298 32818298 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.218A>C p.His73Pro p.H73P ENST00000383763 1/4 99 82 10 31 30 0 TRIM71,missense_variant,p.His73Pro,ENST00000383763,NM_001039111.2; C ENSG00000206557 ENST00000383763 Transcript missense_variant 281/8685 218/2607 73/868 H/P cAc/cCc 1 1 TRIM71 HGNC HGNC:32669 protein_coding YES CCDS43060.1 ENSP00000373272 Q2Q1W2 UPI000067CB89 NM_001039111.2 tolerated(0.14) benign(0.03) 1/4 Gene3D:3.30.40.10,PROSITE_profiles:PS50089,hmmpanther:PTHR44254,SMART_domains:SM00184,Superfamily_domains:SSF57850,cd16589 MODERATE 1 SNV 1 PASS CAC . . 32818298 PTPN23 . GRCh38 chr3 47411268 47411268 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.3470T>G p.Leu1157Arg p.L1157R ENST00000265562 20/25 73 54 7 28 27 0 PTPN23,missense_variant,p.Leu1157Arg,ENST00000265562,NM_015466.3,NM_001304482.1;SCAP,downstream_gene_variant,,ENST00000265565,NM_012235.3,NM_001320044.1;SCAP,downstream_gene_variant,,ENST00000428413,;PTPN23,downstream_gene_variant,,ENST00000456221,;SCAP,downstream_gene_variant,,ENST00000545718,;PTPN23,3_prime_UTR_variant,,ENST00000602307,;SCAP,downstream_gene_variant,,ENST00000320017,;SCAP,downstream_gene_variant,,ENST00000441517,;PTPN23,downstream_gene_variant,,ENST00000477276,;PTPN23,downstream_gene_variant,,ENST00000495653,; G ENSG00000076201 ENST00000265562 Transcript missense_variant 3547/5244 3470/4911 1157/1636 L/R cTg/cGg 1 1 PTPN23 HGNC HGNC:14406 protein_coding YES CCDS2754.1 ENSP00000265562 Q9H3S7 UPI000006EBC4 NM_015466.3,NM_001304482.1 deleterious(0) possibly_damaging(0.656) 20/25 Gene3D:3.90.190.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF333 MODERATE 1 SNV 1 PASS CTG . . 47411268 PRKAR2A . GRCh38 chr3 48847373 48847373 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.224A>C p.Lys75Thr p.K75T ENST00000265563 1/11 96 75 14 35 33 0 PRKAR2A,missense_variant,p.Lys75Thr,ENST00000265563,NM_001321989.1,NM_001321982.1,NM_004157.3;PRKAR2A,missense_variant,p.Lys75Thr,ENST00000296446,NM_001321983.1;PRKAR2A,missense_variant,p.Lys75Thr,ENST00000454963,;PRKAR2A,missense_variant,p.Lys75Thr,ENST00000419216,;PRKAR2A-AS1,upstream_gene_variant,,ENST00000412171,;PRKAR2A-AS1,upstream_gene_variant,,ENST00000416209,;PRKAR2A-AS1,upstream_gene_variant,,ENST00000431705,;PRKAR2A-AS1,upstream_gene_variant,,ENST00000435419,;,regulatory_region_variant,,ENSR00000152159,; G ENSG00000114302 ENST00000265563 Transcript missense_variant 474/6471 224/1215 75/404 K/T aAa/aCa 1 -1 PRKAR2A HGNC HGNC:9391 protein_coding YES CCDS2778.1 ENSP00000265563 P13861 A0A024R2W3 UPI0000161B64 NM_001321989.1,NM_001321982.1,NM_004157.3 tolerated(0.54) benign(0) 1/11 PIRSF_domain:PIRSF000548,hmmpanther:PTHR44021,hmmpanther:PTHR44021:SF1,mobidb-lite MODERATE 1 SNV 1 PASS TTT . . 48847373 GPR27 . GRCh38 chr3 71754771 71754771 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.722A>C p.Asn241Thr p.N241T ENST00000304411 1/1 91 67 11 30 30 0 GPR27,missense_variant,p.Asn241Thr,ENST00000304411,NM_018971.1;EIF4E3,5_prime_UTR_variant,,ENST00000421769,NM_173359.4;EIF4E3,upstream_gene_variant,,ENST00000295612,NM_001282886.1;EIF4E3,upstream_gene_variant,,ENST00000448225,NM_001134649.2;EIF4E3,upstream_gene_variant,,ENST00000496214,; C ENSG00000170837 ENST00000304411 Transcript missense_variant 722/2447 722/1128 241/375 N/T aAc/aCc 1 1 GPR27 HGNC HGNC:4482 protein_coding YES CCDS2915.1 ENSP00000303149 Q9NS67 F1DAM3 UPI0000049802 NM_018971.1 deleterious(0) possibly_damaging(0.867) 1/1 PROSITE_profiles:PS50262,cd15216,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF8,Pfam_domain:PF00001,Gene3D:1.20.1070.10 MODERATE 1 SNV PASS AAC . . 71754771 FOXL2 . GRCh38 chr3 138945788 138945788 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.935A>C p.His312Pro p.H312P ENST00000330315 1/1 82 66 10 28 25 1 FOXL2,missense_variant,p.His312Pro,ENST00000330315,NM_023067.3;FOXL2NB,upstream_gene_variant,,ENST00000383165,NM_001040061.2;LINC01391,upstream_gene_variant,,ENST00000477059,;LINC01391,upstream_gene_variant,,ENST00000483650,;LINC01391,upstream_gene_variant,,ENST00000495287,;FOXL2NB,upstream_gene_variant,,ENST00000470680,;FOXL2NB,upstream_gene_variant,,ENST00000498709,;,regulatory_region_variant,,ENSR00000159084,; G ENSG00000183770 ENST00000330315 Transcript missense_variant 1353/2917 935/1131 312/376 H/P cAc/cCc 1 -1 FOXL2 HGNC HGNC:1092 protein_coding YES CCDS3105.1 ENSP00000333188 P58012 Q53ZD3 UPI0000050DB3 NM_023067.3 deleterious_low_confidence(0.01) benign(0) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF319,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 1 PASS GTG . . 138945788 SIAH2 . GRCh38 chr3 150762707 150762707 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.143T>G p.Val48Gly p.V48G ENST00000312960 1/2 83 68 12 18 18 0 SIAH2,missense_variant,p.Val48Gly,ENST00000312960,NM_005067.5;SIAH2,intron_variant,,ENST00000482706,;SIAH2-AS1,downstream_gene_variant,,ENST00000461943,;SIAH2,intron_variant,,ENST00000472885,;,regulatory_region_variant,,ENSR00000306890,; C ENSG00000181788 ENST00000312960 Transcript missense_variant 671/2517 143/975 48/324 V/G gTg/gGg 1 -1 SIAH2 HGNC HGNC:10858 protein_coding YES CCDS3152.1 ENSP00000322457 O43255 UPI0000071280 NM_005067.5 deleterious(0.04) benign(0.012) 1/2 hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF11,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 150762707 SIAH2 . GRCh38 chr3 150762738 150762738 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.112A>C p.Ile38Leu p.I38L ENST00000312960 1/2 78 66 8 19 19 0 SIAH2,missense_variant,p.Ile38Leu,ENST00000312960,NM_005067.5;SIAH2,intron_variant,,ENST00000482706,;SIAH2-AS1,downstream_gene_variant,,ENST00000461943,;SIAH2,intron_variant,,ENST00000472885,;,regulatory_region_variant,,ENSR00000306890,; G ENSG00000181788 ENST00000312960 Transcript missense_variant 640/2517 112/975 38/324 I/L Atc/Ctc 1 -1 SIAH2 HGNC HGNC:10858 protein_coding YES CCDS3152.1 ENSP00000322457 O43255 UPI0000071280 NM_005067.5 tolerated(0.59) benign(0) 1/2 hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF11,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATG . . 150762738 MUC4 . GRCh38 chr3 195780452 195780452 + Missense_Mutation SNP T T C rs879856102 7316-397 BS_MN13H3T4 T T c.11128A>G p.Thr3710Ala p.T3710A ENST00000463781 2/25 48 30 5 23 19 0 MUC4,missense_variant,p.Thr3710Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr3710Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr3710Ala,ENST00000478156,;MUC4,missense_variant,p.Thr3710Ala,ENST00000466475,;MUC4,missense_variant,p.Thr3710Ala,ENST00000477756,;MUC4,missense_variant,p.Thr3710Ala,ENST00000477086,;MUC4,missense_variant,p.Thr3710Ala,ENST00000480843,;MUC4,missense_variant,p.Thr3710Ala,ENST00000462323,;MUC4,missense_variant,p.Thr3710Ala,ENST00000470451,;MUC4,missense_variant,p.Thr3710Ala,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 11588/17110 11128/16239 3710/5412 T/A Acc/Gcc rs879856102,COSM1666825 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.33) benign(0.224) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GTG . . 0.04269 0.0371 0.037 0.0224 0.09247 0.05902 0.0455 0.04582 0.02035 195780452 MUC4 . GRCh38 chr3 195784990 195784990 + Missense_Mutation SNP T T C rs76421523 7316-397 BS_MN13H3T4 T T c.6590A>G p.Asp2197Gly p.D2197G ENST00000463781 2/25 35 23 5 25 23 0 MUC4,missense_variant,p.Asp2197Gly,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Asp2197Gly,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Asp2197Gly,ENST00000478156,;MUC4,missense_variant,p.Asp2197Gly,ENST00000466475,;MUC4,missense_variant,p.Asp2197Gly,ENST00000477756,;MUC4,missense_variant,p.Asp2197Gly,ENST00000477086,;MUC4,missense_variant,p.Asp2197Gly,ENST00000480843,;MUC4,missense_variant,p.Asp2197Gly,ENST00000462323,;MUC4,missense_variant,p.Asp2197Gly,ENST00000470451,;MUC4,missense_variant,p.Asp2197Gly,ENST00000479406,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 7050/17110 6590/16239 2197/5412 D/G gAc/gGc rs76421523 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.3) possibly_damaging(0.55) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS GTC . . 0.0005536 0.006033 0.0003149 0.000501 0.0002418 0.0004704 0.001071 8.918e-05 195784990 AC116565.1 . GRCh38 chr4 575814 575814 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.249A>C p.Glu83Asp p.E83D ENST00000610212 1/1 59 47 11 33 33 0 AC116565.1,missense_variant,p.Glu83Asp,ENST00000610212,;AC116565.2,upstream_gene_variant,,ENST00000637674,; G ENSG00000273238 ENST00000610212 Transcript missense_variant 487/2421 249/1158 83/385 E/D gaA/gaC 1 -1 AC116565.1 Clone_based_ensembl_gene protein_coding YES ENSP00000493161 A0A286YF58 UPI00024CAC03 benign(0) 1/1 mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS GTT . . 575814 NKX3-2 . GRCh38 chr4 13544353 13544353 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.62A>C p.Lys21Thr p.K21T ENST00000382438 1/2 98 82 10 34 34 0 NKX3-2,missense_variant,p.Lys21Thr,ENST00000382438,NM_001189.3;LINC01096,downstream_gene_variant,,ENST00000501050,;LINC01096,downstream_gene_variant,,ENST00000503938,;,regulatory_region_variant,,ENSR00000166033,; G ENSG00000109705 ENST00000382438 Transcript missense_variant 698/2801 62/1002 21/333 K/T aAa/aCa 1 -1 NKX3-2 HGNC HGNC:951 protein_coding YES CCDS3410.1 ENSP00000371875 P78367 UPI00001301F5 NM_001189.3 deleterious(0) possibly_damaging(0.559) 1/2 hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF34 MODERATE 1 SNV 1 1 PASS TTT . . 13544353 SLC10A4 . GRCh38 chr4 48483814 48483814 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.253T>G p.Phe85Val p.F85V ENST00000273861 1/3 99 76 20 39 38 0 SLC10A4,missense_variant,p.Phe85Val,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168127,; G ENSG00000145248 ENST00000273861 Transcript missense_variant 472/1790 253/1314 85/437 F/V Ttc/Gtc 1 1 SLC10A4 HGNC HGNC:22980 protein_coding YES CCDS3482.1 ENSP00000273861 Q96EP9 UPI000006E8DB NM_152679.3 deleterious(0.02) benign(0) 1/3 hmmpanther:PTHR10361:SF41,hmmpanther:PTHR10361 MODERATE 1 SNV 1 PASS GTT . . 48483814 SLC9A3 . GRCh38 chr5 488464 488464 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.527T>G p.Ile176Ser p.I176S ENST00000264938 3/17 105 88 11 32 32 0 SLC9A3,missense_variant,p.Ile176Ser,ENST00000644203,;SLC9A3,missense_variant,p.Ile176Ser,ENST00000264938,NM_004174.3;SLC9A3,missense_variant,p.Ile176Ser,ENST00000514375,NM_001284351.2; C ENSG00000066230 ENST00000264938 Transcript missense_variant 537/2584 527/2505 176/834 I/S aTt/aGt 1 -1 SLC9A3 HGNC HGNC:11073 protein_coding YES CCDS3855.1 ENSP00000264938 P48764 UPI000013D597 NM_004174.3 tolerated(0.09) benign(0.003) 3/17 Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,TIGRFAM_domain:TIGR00840 MODERATE 1 SNV 1 1 PASS AAT . . 488464 SLC9A3 . GRCh38 chr5 524258 524258 + Missense_Mutation SNP A A C rs1294352511 7316-397 BS_MN13H3T4 A A c.65T>G p.Leu22Arg p.L22R ENST00000264938 1/17 100 86 12 26 25 0 SLC9A3,missense_variant,p.Leu22Arg,ENST00000644203,;SLC9A3,missense_variant,p.Leu22Arg,ENST00000264938,NM_004174.3;SLC9A3,missense_variant,p.Leu22Arg,ENST00000514375,NM_001284351.2;AC106772.2,upstream_gene_variant,,ENST00000515085,;,regulatory_region_variant,,ENSR00000177436,; C ENSG00000066230 ENST00000264938 Transcript missense_variant 75/2584 65/2505 22/834 L/R cTg/cGg rs1294352511 1 -1 SLC9A3 HGNC HGNC:11073 protein_coding YES CCDS3855.1 ENSP00000264938 P48764 UPI000013D597 NM_004174.3 tolerated(0.05) benign(0.282) 1/17 hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,Cleavage_site_(Signalp):SignalP-TM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAG . . 1.743e-05 7.91e-05 524258 MAST4 . GRCh38 chr5 66596861 66596861 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.206T>G p.Leu69Trp p.L69W ENST00000403625 1/29 68 52 8 29 28 0 MAST4,missense_variant,p.Leu69Trp,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Leu69Trp,ENST00000406374,NM_198828.2;MAST4,missense_variant,p.Leu69Trp,ENST00000406039,NM_001290228.1;,regulatory_region_variant,,ENSR00000181667,; G ENSG00000069020 ENST00000403625 Transcript missense_variant 501/10711 206/7872 69/2623 L/W tTg/tGg 1 1 MAST4 HGNC HGNC:19037 protein_coding YES CCDS54861.1 ENSP00000385727 O15021 UPI000173A2B0 NM_001164664.1 deleterious_low_confidence(0.01) benign(0.014) 1/29 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS TTG . . 66596861 ADAMTS19 . GRCh38 chr5 129461584 129461584 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.556T>G p.Phe186Val p.F186V ENST00000638972 2/23 90 75 13 25 24 0 ADAMTS19,missense_variant,p.Phe192Val,ENST00000274487,;ADAMTS19,missense_variant,p.Phe186Val,ENST00000638972,NM_133638.3;ADAMTS19-AS1,upstream_gene_variant,,ENST00000502827,;ADAMTS19,intron_variant,,ENST00000505791,;ADAMTS19,upstream_gene_variant,,ENST00000502709,;,regulatory_region_variant,,ENSR00000186613,; G ENSG00000145808 ENST00000638972 Transcript missense_variant 556/5089 556/3624 186/1207 F/V Ttc/Gtc 1 1 ADAMTS19 HGNC HGNC:17111 protein_coding YES CCDS4146.1 ENSP00000491408 Q8TE59 UPI000013DA0D NM_133638.3 deleterious(0.01) probably_damaging(0.982) 2/23 Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF197,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTT . . 129461584 FOXF2 . GRCh38 chr6 1390800 1390800 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.853A>C p.Met285Leu p.M285L ENST00000645481 1/2 97 71 12 25 22 0 FOXF2,missense_variant,p.Met285Leu,ENST00000645481,;FOXF2,missense_variant,p.Met285Leu,ENST00000259806,NM_001452.1;MIR6720,upstream_gene_variant,,ENST00000611664,; C ENSG00000137273 ENST00000645481 Transcript missense_variant 1225/2447 853/1335 285/444 M/L Atg/Ctg 1 1 FOXF2 HGNC HGNC:3810 protein_coding YES CCDS4472.1 ENSP00000496415 UPI000012ADD6 deleterious(0.04) benign(0.241) 1/2 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF125,mobidb-lite MODERATE 1 SNV PASS CAT . . 1390800 HLA-DQA2 . GRCh38 chr6 32746011 32746011 + Missense_Mutation SNP T T G rs74223470 7316-397 BS_MN13H3T4 T T c.552T>G p.Asp184Glu p.D184E ENST00000374940 3/5 73 59 12 43 41 0 HLA-DQA2,missense_variant,p.Asp184Glu,ENST00000374940,NM_020056.4;MIR3135B,downstream_gene_variant,,ENST00000581098,; G ENSG00000237541 ENST00000374940 Transcript missense_variant 654/1524 552/768 184/255 D/E gaT/gaG rs74223470,COSM4594392 1 1 HLA-DQA2 HGNC HGNC:4943 protein_coding YES CCDS4753.1 ENSP00000364076 P01906 Q76NI6 UPI0000001086 NM_020056.4 tolerated(1) benign(0.058) 3/5 Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF54,SMART_domains:SM00407,Superfamily_domains:SSF48726,cd05767 0,1 MODERATE 1 SNV 0,1 1 PASS ATG . . 0.0002214 0.0001109 6.182e-05 0.0003858 0.0003736 0.0001997 3.504e-05 32746011 TTBK1 . GRCh38 chr6 43246700 43246700 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.40A>C p.Met14Leu p.M14L ENST00000259750 2/15 85 69 11 42 39 1 TTBK1,missense_variant,p.Met14Leu,ENST00000259750,NM_032538.1;TTBK1,upstream_gene_variant,,ENST00000304139,; C ENSG00000146216 ENST00000259750 Transcript missense_variant 123/6932 40/3966 14/1321 M/L Atg/Ctg 1 1 TTBK1 HGNC HGNC:19140 protein_coding YES CCDS34455.1 ENSP00000259750 Q5TCY1 UPI000041512B NM_032538.1 deleterious(0) possibly_damaging(0.813) 2/15 MODERATE 1 SNV 1 PASS CAT . . 43246700 NFKBIE . GRCh38 chr6 44265661 44265661 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.103A>C p.Ser35Arg p.S35R ENST00000275015 1/6 80 64 12 28 28 0 NFKBIE,missense_variant,p.Ser35Arg,ENST00000275015,NM_004556.2;NFKBIE,5_prime_UTR_variant,,ENST00000619360,;TMEM151B,upstream_gene_variant,,ENST00000451188,NM_001137560.1;NFKBIE,upstream_gene_variant,,ENST00000477930,;,regulatory_region_variant,,ENSR00000197296,;,TF_binding_site_variant,,PB0020.1,;,TF_binding_site_variant,,MA0062.2,; G ENSG00000146232 ENST00000275015 Transcript missense_variant 128/2581 103/1503 35/500 S/R Agc/Cgc 1 -1 NFKBIE HGNC HGNC:7799 protein_coding YES CCDS34463.1 ENSP00000275015 O00221 A0A024RD24 UPI000013DA3C NM_004556.2 deleterious_low_confidence(0) probably_damaging(0.997) 1/6 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS CTT . . 44265661 C6orf141 . GRCh38 chr6 49550935 49550935 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.143A>C p.Asn48Thr p.N48T ENST00000529246 1/1 96 73 20 40 40 0 C6orf141,missense_variant,p.Asn48Thr,ENST00000529246,NM_001145652.1;C6orf141,upstream_gene_variant,,ENST00000424426,;C6orf141,missense_variant,p.Asn48Thr,ENST00000371194,;C6orf141,missense_variant,p.Asn48Thr,ENST00000414696,;C6orf141,upstream_gene_variant,,ENST00000415078,;C6orf141,upstream_gene_variant,,ENST00000526429,;C6orf141,upstream_gene_variant,,ENST00000530382,;,regulatory_region_variant,,ENSR00000197764,; C ENSG00000197261 ENST00000529246 Transcript missense_variant 290/1450 143/735 48/244 N/T aAt/aCt 1 1 C6orf141 HGNC HGNC:21351 protein_coding YES CCDS55018.1 ENSP00000434602 Q5SZD1 UPI000013E9DC NM_001145652.1 tolerated(0.17) benign(0.038) 1/1 mobidb-lite,hmmpanther:PTHR36880 MODERATE 1 SNV PASS AAT . . 49550935 VGLL2 . GRCh38 chr6 117270966 117270966 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.815A>C p.Lys272Thr p.K272T ENST00000326274 3/4 79 66 10 25 25 0 VGLL2,missense_variant,p.Lys272Thr,ENST00000326274,NM_182645.3;VGLL2,intron_variant,,ENST00000352536,NM_153453.1;,regulatory_region_variant,,ENSR00000201716,; C ENSG00000170162 ENST00000326274 Transcript missense_variant 1005/2212 815/954 272/317 K/T aAa/aCa 1 1 VGLL2 HGNC HGNC:20232 protein_coding YES CCDS5115.1 ENSP00000320957 Q8N8G2 UPI000006FF57 NM_182645.3 tolerated(0.19) possibly_damaging(0.81) 3/4 hmmpanther:PTHR15950,hmmpanther:PTHR15950:SF17,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 117270966 VWC2 . GRCh38 chr7 49775614 49775614 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.179A>C p.Asn60Thr p.N60T ENST00000340652 2/4 105 84 15 34 32 0 VWC2,missense_variant,p.Asn60Thr,ENST00000340652,NM_198570.4;,regulatory_region_variant,,ENSR00000212360,; C ENSG00000188730 ENST00000340652 Transcript missense_variant 735/11299 179/978 60/325 N/T aAc/aCc 1 1 VWC2 HGNC HGNC:30200 protein_coding YES CCDS5508.1 ENSP00000341819 Q2TAL6 UPI00002373A5 NM_198570.4 tolerated_low_confidence(0.09) benign(0.01) 2/4 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 49775614 SRRM3 . GRCh38 chr7 76235209 76235209 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.143A>C p.Lys48Thr p.K48T ENST00000611745 2/15 90 62 19 29 29 0 SRRM3,missense_variant,p.Lys48Thr,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,non_coding_transcript_exon_variant,,ENST00000479294,;,regulatory_region_variant,,ENSR00000213884,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 350/3612 143/1962 48/653 K/T aAg/aCg 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 deleterious(0.03) probably_damaging(1) 2/15 hmmpanther:PTHR45041,mobidb-lite MODERATE 1 SNV 5 PASS AAG . . 76235209 SRRM3 . GRCh38 chr7 76281495 76281495 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.1063A>C p.Thr355Pro p.T355P ENST00000611745 12/15 30 22 8 16 16 0 SRRM3,missense_variant,p.Thr355Pro,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,downstream_gene_variant,,ENST00000479284,;SRRM3,upstream_gene_variant,,ENST00000612155,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 1270/3612 1063/1962 355/653 T/P Acg/Ccg 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 tolerated(0.09) probably_damaging(0.934) 12/15 hmmpanther:PTHR45041,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAC . . 76281495 SRRM3 . GRCh38 chr7 76282729 76282729 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.1452A>C p.Glu484Asp p.E484D ENST00000611745 13/15 89 77 10 25 25 0 SRRM3,missense_variant,p.Glu484Asp,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,downstream_gene_variant,,ENST00000479284,;SRRM3,non_coding_transcript_exon_variant,,ENST00000612155,;,regulatory_region_variant,,ENSR00000213892,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 1659/3612 1452/1962 484/653 E/D gaA/gaC 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 tolerated(0.09) probably_damaging(0.953) 13/15 hmmpanther:PTHR45041,mobidb-lite MODERATE 1 SNV 5 PASS AAG . . 76282729 SSC4D . GRCh38 chr7 76393668 76393668 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.1070T>G p.Val357Gly p.V357G ENST00000275560 9/11 96 86 8 40 38 0 SSC4D,missense_variant,p.Val357Gly,ENST00000275560,NM_080744.1;ZP3,upstream_gene_variant,,ENST00000336517,NM_007155.5;SSC4D,upstream_gene_variant,,ENST00000492979,;,regulatory_region_variant,,ENSR00000213917,; C ENSG00000146700 ENST00000275560 Transcript missense_variant 1418/2801 1070/1728 357/575 V/G gTg/gGg 1 -1 SSC4D HGNC HGNC:14461 protein_coding YES CCDS5585.1 ENSP00000275560 Q8WTU2 UPI000006D197 NM_080744.1 tolerated(0.05) benign(0.034) 9/11 Gene3D:1.20.5.950,Pfam_domain:PF00530,PROSITE_patterns:PS00420,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF309,SMART_domains:SM00202,Superfamily_domains:SSF56487 MODERATE 1 SNV 1 PASS CAC . . 76393668 AC004922.1 . GRCh38 chr7 99389973 99389973 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.1457A>C p.Asn486Thr p.N486T ENST00000638617 12/17 70 59 9 37 37 0 AC004922.1,missense_variant,p.Asn486Thr,ENST00000638617,;ARPC1B,missense_variant,p.Asn154Thr,ENST00000443222,;ARPC1B,missense_variant,p.Asn154Thr,ENST00000451682,;ARPC1B,missense_variant,p.Asn154Thr,ENST00000645391,;ARPC1B,missense_variant,p.Asn154Thr,ENST00000427217,;ARPC1B,missense_variant,p.Asn154Thr,ENST00000252725,NM_005720.3;ARPC1B,missense_variant,p.Asn154Thr,ENST00000455009,;ARPC1B,missense_variant,p.Asn154Thr,ENST00000431816,;ARPC1B,missense_variant,p.Asn154Thr,ENST00000646101,;ARPC1B,missense_variant,p.Asn154Thr,ENST00000458033,;ARPC1B,missense_variant,p.Asn154Thr,ENST00000417330,;PDAP1,downstream_gene_variant,,ENST00000350498,NM_014891.6;ARPC1B,downstream_gene_variant,,ENST00000414376,;ARPC1B,downstream_gene_variant,,ENST00000418347,;ARPC1B,downstream_gene_variant,,ENST00000429246,;ARPC1B,upstream_gene_variant,,ENST00000463078,;ARPC1B,downstream_gene_variant,,ENST00000474880,;ARPC1B,downstream_gene_variant,,ENST00000493403,;PDAP1,downstream_gene_variant,,ENST00000496335,;ARPC1B,3_prime_UTR_variant,,ENST00000432343,;ARPC1B,3_prime_UTR_variant,,ENST00000445924,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000468337,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000484375,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000484600,;AC004922.1,downstream_gene_variant,,ENST00000441989,;ARPC1B,upstream_gene_variant,,ENST00000481997,;ARPC1B,upstream_gene_variant,,ENST00000491294,; C ENSG00000284292 ENST00000638617 Transcript missense_variant 1612/2430 1457/2055 486/684 N/T aAt/aCt 1 1 AC004922.1 Clone_based_ensembl_gene protein_coding YES ENSP00000491073 A0A1W2PNV4 UPI00097BA602 deleterious(0) probably_damaging(0.966) 12/17 hmmpanther:PTHR10709:SF11,hmmpanther:PTHR10709,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978 MODERATE SNV 5 PASS AAT . . 99389973 MUC17 . GRCh38 chr7 101037209 101037209 + Missense_Mutation SNP A A G rs199605653 7316-397 BS_MN13H3T4 A A c.5793A>G p.Ile1931Met p.I1931M ENST00000306151 3/13 83 71 9 34 32 0 MUC17,missense_variant,p.Ile1931Met,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile1931Met,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 5857/14247 5793/13482 1931/4493 I/M atA/atG rs199605653,COSM4594109 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.17) benign(0) 3/13 hmmpanther:PTHR37999 0,1 MODERATE 1 SNV 1 0,1 PASS TAC . . 101037209 AHCYL2 . GRCh38 chr7 129225312 129225312 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.236A>C p.Lys79Thr p.K79T ENST00000325006 1/17 80 61 11 35 35 0 AHCYL2,missense_variant,p.Lys79Thr,ENST00000325006,NM_015328.3;AHCYL2,missense_variant,p.Lys79Thr,ENST00000446544,NM_001130720.2;,regulatory_region_variant,,ENSR00000217839,; C ENSG00000158467 ENST00000325006 Transcript missense_variant 290/5056 236/1836 79/611 K/T aAg/aCg 1 1 AHCYL2 HGNC HGNC:22204 protein_coding YES CCDS5812.1 ENSP00000315931 Q96HN2 UPI00001354E4 NM_015328.3 tolerated_low_confidence(0.07) probably_damaging(0.932) 1/17 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 129225312 TRIM24 . GRCh38 chr7 138460910 138460910 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.362A>C p.Gln121Pro p.Q121P ENST00000343526 1/19 84 65 11 36 36 0 TRIM24,missense_variant,p.Gln121Pro,ENST00000343526,NM_015905.2;TRIM24,missense_variant,p.Gln121Pro,ENST00000415680,NM_003852.3;TRIM24,upstream_gene_variant,,ENST00000497516,;,regulatory_region_variant,,ENSR00000218861,; C ENSG00000122779 ENST00000343526 Transcript missense_variant,splice_region_variant 577/8410 362/3153 121/1050 Q/P cAa/cCa 1 1 TRIM24 HGNC HGNC:11812 protein_coding YES CCDS5847.1 ENSP00000340507 O15164 UPI00000012CB NM_015905.2 tolerated(0.49) benign(0) 1/19 cd16764,Gene3D:3.30.40.10,SMART_domains:SM00184,PROSITE_profiles:PS50089 MODERATE 1 SNV 1 1 PASS CAA . . 138460910 KBTBD11 . GRCh38 chr8 2002151 2002151 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.959A>C p.Asp320Ala p.D320A ENST00000320248 2/2 83 72 9 26 26 0 KBTBD11,missense_variant,p.Asp320Ala,ENST00000320248,NM_014867.2;,regulatory_region_variant,,ENSR00000220494,; C ENSG00000176595 ENST00000320248 Transcript missense_variant 1925/6710 959/1872 320/623 D/A gAc/gCc 1 1 KBTBD11 HGNC HGNC:29104 protein_coding YES CCDS34795.1 ENSP00000321544 O94819 UPI0000139C1D NM_014867.2 tolerated(0.49) benign(0.003) 2/2 Gene3D:2.120.10.80,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF59 MODERATE 1 SNV 1 PASS GAC . . 2002151 FGFR1 . GRCh38 chr8 38467672 38467672 + Splice_Region SNP T T G novel 7316-397 BS_MN13H3T4 T T c.-150A>C ENST00000425967 1/19 80 62 10 32 30 0 FGFR1,splice_region_variant,,ENST00000425967,NM_001174067.1;FGFR1,splice_region_variant,,ENST00000397113,NM_001174065.1;FGFR1,splice_region_variant,,ENST00000397108,;FGFR1,splice_region_variant,,ENST00000525001,;FGFR1,splice_region_variant,,ENST00000529552,;FGFR1,splice_region_variant,,ENST00000526742,;FGFR1,splice_region_variant,,ENST00000413133,;FGFR1,splice_region_variant,,ENST00000533668,;FGFR1,intron_variant,,ENST00000326324,NM_023106.2;FGFR1,intron_variant,,ENST00000335922,NM_001174064.1;FGFR1,intron_variant,,ENST00000341462,;FGFR1,intron_variant,,ENST00000356207,NM_001174066.1,NM_023105.2;FGFR1,intron_variant,,ENST00000397091,NM_015850.3;FGFR1,intron_variant,,ENST00000447712,NM_023110.2;FGFR1,intron_variant,,ENST00000532791,NM_001174063.1;FGFR1,intron_variant,,ENST00000619564,;FGFR1,upstream_gene_variant,,ENST00000434187,;FGFR1,upstream_gene_variant,,ENST00000440174,;FGFR1,upstream_gene_variant,,ENST00000530568,;FGFR1,upstream_gene_variant,,ENST00000480571,;FGFR1,upstream_gene_variant,,ENST00000496629,;FGFR1,intron_variant,,ENST00000397090,;FGFR1,intron_variant,,ENST00000470826,;FGFR1,intron_variant,,ENST00000496296,;,regulatory_region_variant,,ENSR00000223675,; G ENSG00000077782 ENST00000425967 Transcript splice_region_variant,5_prime_UTR_variant 174/5375 1 -1 FGFR1 HGNC HGNC:3688 protein_coding YES CCDS55223.1 ENSP00000393312 P11362 UPI0001CE06A3 NM_001174067.1 1/19 LOW 1 SNV 1 1 PASS CTG . . 38467672 MROH6 . GRCh38 chr8 143567295 143567295 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.2104T>G p.Phe702Val p.F702V ENST00000398882 14/14 103 77 15 30 28 0 MROH6,missense_variant,p.Phe702Val,ENST00000398882,NM_001100878.1;MROH6,missense_variant,p.Phe33Val,ENST00000533679,;MROH6,missense_variant,p.Phe33Val,ENST00000524906,;MROH6,missense_variant,p.Phe33Val,ENST00000534459,;GSDMD,downstream_gene_variant,,ENST00000262580,NM_024736.6;GSDMD,downstream_gene_variant,,ENST00000526406,NM_001166237.1;MROH6,downstream_gene_variant,,ENST00000529971,;MROH6,downstream_gene_variant,,ENST00000532862,;GSDMD,downstream_gene_variant,,ENST00000533063,;MROH6,intron_variant,,ENST00000532704,;MROH6,downstream_gene_variant,,ENST00000533582,;MROH6,non_coding_transcript_exon_variant,,ENST00000533210,;GSDMD,downstream_gene_variant,,ENST00000524846,;GSDMD,downstream_gene_variant,,ENST00000525208,;GSDMD,downstream_gene_variant,,ENST00000526469,;GSDMD,downstream_gene_variant,,ENST00000528475,;GSDMD,downstream_gene_variant,,ENST00000531173,;GSDMD,downstream_gene_variant,,ENST00000531184,;MROH6,downstream_gene_variant,,ENST00000533083,;MROH6,upstream_gene_variant,,ENST00000533120,;GSDMD,downstream_gene_variant,,ENST00000534602,; C ENSG00000204839 ENST00000398882 Transcript missense_variant 2361/3469 2104/2160 702/719 F/V Ttc/Gtc 1 -1 MROH6 HGNC HGNC:27814 protein_coding YES CCDS47928.1 ENSP00000381857 A6NGR9 UPI0000DD7EFB NM_001100878.1 deleterious_low_confidence(0) benign(0.225) 14/14 MODERATE SNV 5 PASS AAG . . 143567295 SH3GL2 . GRCh38 chr9 17579244 17579244 + Translation_Start_Site SNP T T G novel 7316-397 BS_MN13H3T4 T T c.2T>G p.Met1? p.M1? ENST00000380607 1/9 105 82 13 34 34 0 SH3GL2,start_lost,p.Met1?,ENST00000380607,NM_003026.3;SH3GL2,non_coding_transcript_exon_variant,,ENST00000467085,;,regulatory_region_variant,,ENSR00000233577,; G ENSG00000107295 ENST00000380607 Transcript start_lost 122/2565 2/1059 1/352 M/R aTg/aGg 1 1 SH3GL2 HGNC HGNC:10831 protein_coding YES CCDS6483.1 ENSP00000369981 Q99962 UPI0000135933 NM_003026.3 deleterious(0) possibly_damaging(0.701) 1/9 PDB-ENSP_mappings:1x03.A,PDB-ENSP_mappings:1x04.A,PDB-ENSP_mappings:2d4c.A,PDB-ENSP_mappings:2d4c.B,PDB-ENSP_mappings:2d4c.C,PDB-ENSP_mappings:2d4c.D,hmmpanther:PTHR43965,hmmpanther:PTHR43965:SF5,mobidb-lite HIGH 1 SNV 1 PASS ATG . . 17579244 FAM205A . GRCh38 chr9 34726185 34726185 + Missense_Mutation SNP A A G rs521630 7316-397 BS_MN13H3T4 A A c.1055T>C p.Phe352Ser p.F352S ENST00000378788 4/4 58 44 13 16 16 0 FAM205A,missense_variant,p.Phe352Ser,ENST00000378788,NM_001141917.1; G ENSG00000205108 ENST00000378788 Transcript missense_variant 1095/4225 1055/4008 352/1335 F/S tTt/tCt rs521630,COSM4592890,COSM4592891 1 -1 FAM205A HGNC HGNC:41911 protein_coding YES CCDS55305.1 ENSP00000417711 Q6ZU69 UPI00017EE92B NM_001141917.1 tolerated(0.08) benign(0.098) 4/4 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF15 0.4760 0.3873 0.4035 0.5188 0.4612 0.6186 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS AAA . . 0.3664 0.3619 0.3508 0.4203 0.2643 0.3443 0.33 0.3537 0.5282 34726185 FOXB2 . GRCh38 chr9 77020358 77020358 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.704T>G p.Val235Gly p.V235G ENST00000376708 1/1 49 29 9 13 13 0 FOXB2,missense_variant,p.Val235Gly,ENST00000376708,NM_001013735.1; G ENSG00000204612 ENST00000376708 Transcript missense_variant 704/1299 704/1299 235/432 V/G gTg/gGg 1 1 FOXB2 HGNC HGNC:23315 protein_coding YES CCDS35045.1 ENSP00000365898 Q5VYV0 UPI00004588EE NM_001013735.1 deleterious_low_confidence(0.01) benign(0.011) 1/1 Low_complexity_(Seg):seg,Gene3D:3.40.50.1980,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF215 MODERATE 1 SNV PASS GTG . . 77020358 SUSD3 . GRCh38 chr9 93058822 93058822 + Missense_Mutation SNP A A C 7316-397 BS_MN13H3T4 A A c.80A>C p.Asn27Thr p.N27T ENST00000375472 1/5 109 92 14 31 30 0 SUSD3,missense_variant,p.Asn27Thr,ENST00000375472,NM_145006.3;SUSD3,missense_variant,p.Asn27Thr,ENST00000617293,NM_001287007.1,NM_001287006.1;SUSD3,missense_variant,p.Asn15Thr,ENST00000465709,NM_001287008.1;,regulatory_region_variant,,ENSR00000237990,; C ENSG00000157303 ENST00000375472 Transcript missense_variant 116/1195 80/768 27/255 N/T aAc/aCc COSM6433909 1 1 SUSD3 HGNC HGNC:28391 protein_coding YES CCDS6701.1 ENSP00000364621 Q96L08 UPI0000070B4A NM_145006.3 tolerated(0.05) benign(0.334) 1/5 hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF386 1 MODERATE 1 SNV 1 1 PASS AAC . . 93058822 DAB2IP . GRCh38 chr9 121772770 121772770 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.2158A>C p.Met720Leu p.M720L ENST00000259371 12/17 92 83 7 47 46 0 DAB2IP,missense_variant,p.Met748Leu,ENST00000408936,;DAB2IP,missense_variant,p.Met720Leu,ENST00000259371,NM_032552.3;DAB2IP,missense_variant,p.Met657Leu,ENST00000373782,;DAB2IP,missense_variant,p.Met624Leu,ENST00000309989,NM_138709.2;DAB2IP,downstream_gene_variant,,ENST00000459906,; C ENSG00000136848 ENST00000259371 Transcript missense_variant 2245/5469 2158/3399 720/1132 M/L Atg/Ctg 1 1 DAB2IP HGNC HGNC:17294 protein_coding YES CCDS6833.2 ENSP00000259371 Q5VWQ8 UPI0000D77E70 NM_032552.3 tolerated(0.77) benign(0.025) 12/17 Pfam_domain:PF12004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF26 MODERATE 1 SNV 5 PASS CAT . . 121772770 ADARB2 . GRCh38 chr10 1363875 1363875 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.230A>C p.Asn77Thr p.N77T ENST00000381312 3/10 75 60 10 24 22 0 ADARB2,missense_variant,p.Asn77Thr,ENST00000381312,NM_018702.3;AL513304.1,upstream_gene_variant,,ENST00000432987,; G ENSG00000185736 ENST00000381312 Transcript missense_variant 556/8421 230/2220 77/739 N/T aAc/aCc 1 -1 ADARB2 HGNC HGNC:227 protein_coding YES CCDS7058.1 ENSP00000370713 Q9NS39 UPI0000071776 NM_018702.3 tolerated(0.07) possibly_damaging(0.459) 3/10 mobidb-lite,hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910 MODERATE 1 SNV 1 PASS GTT . . 1363875 NEUROG3 . GRCh38 chr10 69572910 69572910 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.134A>C p.Asn45Thr p.N45T ENST00000242462 2/2 81 64 13 27 26 0 NEUROG3,missense_variant,p.Asn45Thr,ENST00000242462,NM_020999.3;AL450311.2,upstream_gene_variant,,ENST00000428753,; G ENSG00000122859 ENST00000242462 Transcript missense_variant 164/1376 134/645 45/214 N/T aAc/aCc 1 -1 NEUROG3 HGNC HGNC:13806 protein_coding YES CCDS31212.1 ENSP00000242462 Q9Y4Z2 UPI000013CB00 NM_020999.3 tolerated(0.16) benign(0.006) 2/2 mobidb-lite,hmmpanther:PTHR19290:SF94,hmmpanther:PTHR19290 MODERATE 1 SNV 1 1 PASS GTT . . 69572910 CYP26C1 . GRCh38 chr10 93068445 93068445 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1317T>G p.Asp439Glu p.D439E ENST00000285949 6/6 96 82 13 29 28 0 CYP26C1,missense_variant,p.Asp439Glu,ENST00000285949,NM_183374.2;AL358613.2,upstream_gene_variant,,ENST00000624651,;CYP26C1,3_prime_UTR_variant,,ENST00000624358,;,regulatory_region_variant,,ENSR00000031713,; G ENSG00000187553 ENST00000285949 Transcript missense_variant 1317/1569 1317/1569 439/522 D/E gaT/gaG 1 1 CYP26C1 HGNC HGNC:20577 protein_coding YES CCDS7425.1 ENSP00000285949 Q6V0L0 UPI00002289F0 NM_183374.2 tolerated(1) benign(0) 6/6 Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24286,hmmpanther:PTHR24286:SF100,Superfamily_domains:SSF48264 MODERATE 1 SNV 1 1 PASS ATT . . 93068445 NEURL1 . GRCh38 chr10 103494471 103494471 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.84A>C p.Lys28Asn p.K28N ENST00000369780 1/6 81 58 9 40 39 0 NEURL1,missense_variant,p.Lys28Asn,ENST00000369780,NM_004210.4;NEURL1-AS1,intron_variant,,ENST00000453753,; C ENSG00000107954 ENST00000369780 Transcript missense_variant,splice_region_variant 493/4314 84/1725 28/574 K/N aaA/aaC 1 1 NEURL1 HGNC HGNC:7761 protein_coding YES CCDS7551.1 ENSP00000358795 O76050 UPI0000073F46 NM_004210.4 tolerated_low_confidence(0.5) benign(0.007) 1/6 mobidb-lite,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF13 MODERATE 1 SNV 1 PASS AAG . . 103494471 NANOS1 . GRCh38 chr10 119030066 119030066 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.265A>C p.Thr89Pro p.T89P ENST00000425699 1/1 60 38 14 33 31 0 NANOS1,missense_variant,p.Thr89Pro,ENST00000425699,NM_199461.3;NANOS1,upstream_gene_variant,,ENST00000340087,;EIF3A,downstream_gene_variant,,ENST00000369144,NM_003750.2;,regulatory_region_variant,,ENSR00000034198,; C ENSG00000188613 ENST00000425699 Transcript missense_variant 351/4017 265/879 89/292 T/P Acg/Ccg 1 1 NANOS1 HGNC HGNC:23044 protein_coding YES CCDS7607.1 ENSP00000393275 Q8WY41 UPI00001D68E9 NM_199461.3 tolerated(0.11) benign(0) 1/1 hmmpanther:PTHR12887,hmmpanther:PTHR12887:SF6,mobidb-lite MODERATE SNV 1 PASS CAC . . 119030066 KNDC1 . GRCh38 chr10 133220109 133220109 + Missense_Mutation SNP T T C rs1442485330 7316-397 BS_MN13H3T4 T T c.5015T>C p.Leu1672Pro p.L1672P ENST00000304613 29/30 84 70 6 33 32 0 KNDC1,missense_variant,p.Leu1672Pro,ENST00000304613,NM_152643.6;,regulatory_region_variant,,ENSR00000035516,; C ENSG00000171798 ENST00000304613 Transcript missense_variant 5036/6793 5015/5250 1672/1749 L/P cTc/cCc rs1442485330 1 1 KNDC1 HGNC HGNC:29374 protein_coding YES CCDS7674.1 ENSP00000304437 Q76NI1 UPI00003529F7 NM_152643.6 deleterious(0) benign(0.401) 29/30 Gene3D:1.10.840.10,PROSITE_profiles:PS50009,hmmpanther:PTHR21560,SMART_domains:SM00147,Superfamily_domains:SSF48366 MODERATE 1 SNV 1 PASS CTC . . 133220109 SPRN . GRCh38 chr10 133423391 133423391 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.291A>C p.Glu97Asp p.E97D ENST00000414069 2/2 72 58 10 36 36 0 SPRN,missense_variant,p.Glu97Asp,ENST00000414069,NM_001012508.3;MTG1,downstream_gene_variant,,ENST00000317502,NM_138384.2;MTG1,downstream_gene_variant,,ENST00000432508,;AL360181.3,downstream_gene_variant,,ENST00000468317,;MTG1,downstream_gene_variant,,ENST00000477902,;MTG1,downstream_gene_variant,,ENST00000460848,;MTG1,downstream_gene_variant,,ENST00000473735,;,regulatory_region_variant,,ENSR00000035555,; G ENSG00000203772 ENST00000414069 Transcript missense_variant 403/3128 291/456 97/151 E/D gaA/gaC 1 -1 SPRN HGNC HGNC:16871 protein_coding YES CCDS53589.1 ENSP00000433712 Q5BIV9 UPI0000251EE8 NM_001012508.3 deleterious(0.05) benign(0.018) 2/2 mobidb-lite,hmmpanther:PTHR28552,Pfam_domain:PF14999 MODERATE 1 SNV 1 PASS GTT . . 133423391 MUC5AC . GRCh38 chr11 1185095 1185095 + Missense_Mutation SNP T T C rs1357245906 7316-397 BS_MN13H3T4 T T c.6950T>C p.Ile2317Thr p.I2317T ENST00000621226 31/49 64 52 5 25 22 0 MUC5AC,missense_variant,p.Ile2317Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 6997/17448 6950/16965 2317/5654 I/T aTc/aCc rs1357245906 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.89) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 1185095 PDE3B . GRCh38 chr11 14644338 14644338 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.263T>G p.Phe88Cys p.F88C ENST00000282096 1/16 101 82 16 27 27 0 PDE3B,missense_variant,p.Phe88Cys,ENST00000282096,NM_000922.3;PDE3B,missense_variant,p.Phe88Cys,ENST00000455098,;PSMA1,upstream_gene_variant,,ENST00000418988,NM_148976.2;PDE3B,non_coding_transcript_exon_variant,,ENST00000534317,;PSMA1,upstream_gene_variant,,ENST00000528018,;,regulatory_region_variant,,ENSR00000037327,; G ENSG00000152270 ENST00000282096 Transcript missense_variant 616/6076 263/3339 88/1112 F/C tTt/tGt 1 1 PDE3B HGNC HGNC:8779 protein_coding YES CCDS7817.1 ENSP00000282096 Q13370 UPI000013DCB7 NM_000922.3 deleterious(0) benign(0.431) 1/16 Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTT . . 14644338 LRRC10B . GRCh38 chr11 61509708 61509708 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.710T>G p.Met237Arg p.M237R ENST00000378075 1/1 93 76 11 35 34 0 LRRC10B,missense_variant,p.Met237Arg,ENST00000378075,NM_001145077.1;MIR4488,downstream_gene_variant,,ENST00000577388,;,regulatory_region_variant,,ENSR00000040282,; G ENSG00000204950 ENST00000378075 Transcript missense_variant 909/2219 710/879 237/292 M/R aTg/aGg 1 1 LRRC10B HGNC HGNC:37215 protein_coding YES CCDS44621.1 ENSP00000367315 A6NIK2 UPI00006C114B NM_001145077.1 tolerated(0.13) benign(0.216) 1/1 hmmpanther:PTHR45163,mobidb-lite MODERATE 1 SNV PASS ATG . . 61509708 SYT7 . GRCh38 chr11 61546231 61546231 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.240A>C p.Lys80Asn p.K80N ENST00000540677 4/10 84 58 9 26 25 0 SYT7,missense_variant,p.Lys124Asn,ENST00000539008,;SYT7,missense_variant,p.Lys80Asn,ENST00000540677,NM_001252065.1;SYT7,missense_variant,p.Lys124Asn,ENST00000535826,;SYT7,intron_variant,,ENST00000263846,NM_004200.3;SYT7,intron_variant,,ENST00000542670,;SYT7,intron_variant,,ENST00000542836,NM_001300773.1;SYT7,intron_variant,,ENST00000545053,;AP003559.1,upstream_gene_variant,,ENST00000540906,;SYT7,3_prime_UTR_variant,,ENST00000539468,;SYT7,intron_variant,,ENST00000539246,; G ENSG00000011347 ENST00000540677 Transcript missense_variant 246/2013 240/1437 80/478 K/N aaA/aaC 1 -1 SYT7 HGNC HGNC:11514 protein_coding YES CCDS58139.1 ENSP00000444201 O43581 UPI0001639ECE NM_001252065.1 tolerated_low_confidence(0.41) benign(0.07) 4/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTT . . 61546231 SYT7 . GRCh38 chr11 61546232 61546232 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.239A>C p.Lys80Thr p.K80T ENST00000540677 4/10 85 58 13 27 27 0 SYT7,missense_variant,p.Lys124Thr,ENST00000539008,;SYT7,missense_variant,p.Lys80Thr,ENST00000540677,NM_001252065.1;SYT7,missense_variant,p.Lys124Thr,ENST00000535826,;SYT7,intron_variant,,ENST00000263846,NM_004200.3;SYT7,intron_variant,,ENST00000542670,;SYT7,intron_variant,,ENST00000542836,NM_001300773.1;SYT7,intron_variant,,ENST00000545053,;AP003559.1,upstream_gene_variant,,ENST00000540906,;SYT7,3_prime_UTR_variant,,ENST00000539468,;SYT7,intron_variant,,ENST00000539246,; G ENSG00000011347 ENST00000540677 Transcript missense_variant 245/2013 239/1437 80/478 K/T aAa/aCa 1 -1 SYT7 HGNC HGNC:11514 protein_coding YES CCDS58139.1 ENSP00000444201 O43581 UPI0001639ECE NM_001252065.1 tolerated_low_confidence(0.53) benign(0.094) 4/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTT . . 61546232 CCDC88B . GRCh38 chr11 64345073 64345073 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.2532A>C p.Glu844Asp p.E844D ENST00000356786 14/27 96 81 12 31 31 0 CCDC88B,missense_variant,p.Glu844Asp,ENST00000356786,NM_032251.5;CCDC88B,upstream_gene_variant,,ENST00000359902,;MIR7155,upstream_gene_variant,,ENST00000615925,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000463837,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494080,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494566,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000492980,; C ENSG00000168071 ENST00000356786 Transcript missense_variant 2576/4915 2532/4431 844/1476 E/D gaA/gaC 1 1 CCDC88B HGNC HGNC:26757 protein_coding YES CCDS8072.2 ENSP00000349238 A6NC98 UPI00001FAAA6 NM_032251.5 tolerated(0.05) benign(0.251) 14/27 mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF35 MODERATE 1 SNV 1 PASS AAC . . 64345073 MAP4K2 . GRCh38 chr11 64802908 64802908 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.131T>G p.Val44Gly p.V44G ENST00000294066 2/32 51 36 9 24 24 0 MAP4K2,missense_variant,p.Val44Gly,ENST00000294066,NM_004579.4;MAP4K2,missense_variant,p.Val44Gly,ENST00000377350,NM_001307990.1;MAP4K2,missense_variant,p.Val44Gly,ENST00000439069,;MEN1,downstream_gene_variant,,ENST00000312049,NM_130799.2;MEN1,downstream_gene_variant,,ENST00000315422,;MEN1,downstream_gene_variant,,ENST00000337652,NM_130803.2;MEN1,downstream_gene_variant,,ENST00000377313,;MEN1,downstream_gene_variant,,ENST00000377316,;MEN1,downstream_gene_variant,,ENST00000377321,;MEN1,downstream_gene_variant,,ENST00000377326,;MEN1,downstream_gene_variant,,ENST00000394374,NM_000244.3,NM_130800.2,NM_130801.2,NM_130802.2;MEN1,downstream_gene_variant,,ENST00000394376,NM_130804.2;MEN1,downstream_gene_variant,,ENST00000413626,;MEN1,downstream_gene_variant,,ENST00000440873,;MEN1,downstream_gene_variant,,ENST00000450708,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000468062,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000482314,;MEN1,downstream_gene_variant,,ENST00000487019,;MAP4K2,missense_variant,p.Val44Gly,ENST00000435926,;MAP4K2,missense_variant,p.Val44Gly,ENST00000433890,;MAP4K2,missense_variant,p.Val44Gly,ENST00000444560,;MAP4K2,upstream_gene_variant,,ENST00000467689,;MEN1,downstream_gene_variant,,ENST00000478548,;MAP4K2,upstream_gene_variant,,ENST00000489952,;MAP4K2,upstream_gene_variant,,ENST00000493428,;,regulatory_region_variant,,ENSR00000040731,; C ENSG00000168067 ENST00000294066 Transcript missense_variant 223/7178 131/2463 44/820 V/G gTg/gGg 1 -1 MAP4K2 HGNC HGNC:6864 protein_coding YES CCDS8082.1 ENSP00000294066 Q12851 A0A024R567 UPI000013E13D NM_004579.4 deleterious(0) probably_damaging(0.968) 2/32 Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF038172,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF392,SMART_domains:SM00220,Superfamily_domains:SSF56112,cd06613 MODERATE 1 SNV 1 PASS CAC . . 64802908 PACS1 . GRCh38 chr11 66070712 66070712 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.226A>C p.Met76Leu p.M76L ENST00000320580 1/24 100 83 13 37 37 0 PACS1,missense_variant,p.Met76Leu,ENST00000320580,NM_018026.3;SF3B2,downstream_gene_variant,,ENST00000322535,NM_006842.2;SF3B2,downstream_gene_variant,,ENST00000528302,;SF3B2,downstream_gene_variant,,ENST00000530981,;AP006287.2,upstream_gene_variant,,ENST00000529036,;PACS1,non_coding_transcript_exon_variant,,ENST00000527224,;SF3B2,downstream_gene_variant,,ENST00000534765,;,regulatory_region_variant,,ENSR00000040927,; C ENSG00000175115 ENST00000320580 Transcript missense_variant 259/4392 226/2892 76/963 M/L Atg/Ctg 1 1 PACS1 HGNC HGNC:30032 protein_coding YES CCDS8129.1 ENSP00000316454 Q6VY07 A0A024R5H6 UPI0000190973 NM_018026.3 tolerated_low_confidence(0.88) benign(0) 1/24 Low_complexity_(Seg):seg,hmmpanther:PTHR13280:SF16,hmmpanther:PTHR13280,Superfamily_domains:SSF81995 MODERATE 1 SNV 1 1 PASS CAT . . 66070712 GSTP1 . GRCh38 chr11 67584560 67584560 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.134A>C p.Lys45Thr p.K45T ENST00000398606 3/7 71 60 10 33 32 1 GSTP1,missense_variant,p.Lys45Thr,ENST00000398606,NM_000852.3;GSTP1,missense_variant,p.Lys45Thr,ENST00000642444,;GSTP1,missense_variant,p.Lys45Thr,ENST00000398603,;GSTP1,upstream_gene_variant,,ENST00000495996,;GSTP1,missense_variant,p.Lys33Thr,ENST00000498765,;GSTP1,non_coding_transcript_exon_variant,,ENST00000494593,;GSTP1,non_coding_transcript_exon_variant,,ENST00000489040,;GSTP1,intron_variant,,ENST00000646888,;GSTP1,upstream_gene_variant,,ENST00000467591,;,regulatory_region_variant,,ENSR00000041130,; C ENSG00000084207 ENST00000398606 Transcript missense_variant 383/961 134/633 45/210 K/T aAa/aCa 1 1 GSTP1 HGNC HGNC:4638 protein_coding YES CCDS41679.1 ENSP00000381607 P09211 V9HWE9 UPI000011028B NM_000852.3 deleterious(0) probably_damaging(0.974) 3/7 PDB-ENSP_mappings:10gs.A,PDB-ENSP_mappings:10gs.B,PDB-ENSP_mappings:11gs.A,PDB-ENSP_mappings:11gs.B,PDB-ENSP_mappings:12gs.A,PDB-ENSP_mappings:12gs.B,PDB-ENSP_mappings:13gs.A,PDB-ENSP_mappings:13gs.B,PDB-ENSP_mappings:14gs.A,PDB-ENSP_mappings:14gs.B,PDB-ENSP_mappings:16gs.A,PDB-ENSP_mappings:16gs.B,PDB-ENSP_mappings:17gs.A,PDB-ENSP_mappings:17gs.B,PDB-ENSP_mappings:18gs.A,PDB-ENSP_mappings:18gs.B,PDB-ENSP_mappings:19gs.A,PDB-ENSP_mappings:19gs.B,PDB-ENSP_mappings:1aqv.A,PDB-ENSP_mappings:1aqv.B,PDB-ENSP_mappings:1aqw.A,PDB-ENSP_mappings:1aqw.B,PDB-ENSP_mappings:1aqw.C,PDB-ENSP_mappings:1aqw.D,PDB-ENSP_mappings:1aqx.A,PDB-ENSP_mappings:1aqx.B,PDB-ENSP_mappings:1aqx.C,PDB-ENSP_mappings:1aqx.D,PDB-ENSP_mappings:1eog.A,PDB-ENSP_mappings:1eog.B,PDB-ENSP_mappings:1eoh.A,PDB-ENSP_mappings:1eoh.B,PDB-ENSP_mappings:1eoh.C,PDB-ENSP_mappings:1eoh.D,PDB-ENSP_mappings:1eoh.E,PDB-ENSP_mappings:1eoh.F,PDB-ENSP_mappings:1eoh.G,PDB-ENSP_mappings:1eoh.H,PDB-ENSP_mappings:1gss.A,PDB-ENSP_mappings:1gss.B,PDB-ENSP_mappings:1kbn.A,PDB-ENSP_mappings:1kbn.B,PDB-ENSP_mappings:1lbk.A,PDB-ENSP_mappings:1lbk.B,PDB-ENSP_mappings:1md3.A,PDB-ENSP_mappings:1md3.B,PDB-ENSP_mappings:1md4.A,PDB-ENSP_mappings:1md4.B,PDB-ENSP_mappings:1pgt.A,PDB-ENSP_mappings:1pgt.B,PDB-ENSP_mappings:1px6.A,PDB-ENSP_mappings:1px6.B,PDB-ENSP_mappings:1px7.A,PDB-ENSP_mappings:1px7.B,PDB-ENSP_mappings:1zgn.A,PDB-ENSP_mappings:1zgn.B,PDB-ENSP_mappings:20gs.A,PDB-ENSP_mappings:20gs.B,PDB-ENSP_mappings:22gs.A,PDB-ENSP_mappings:22gs.B,PDB-ENSP_mappings:2a2r.A,PDB-ENSP_mappings:2a2r.B,PDB-ENSP_mappings:2a2s.A,PDB-ENSP_mappings:2a2s.B,PDB-ENSP_mappings:2gss.A,PDB-ENSP_mappings:2gss.B,PDB-ENSP_mappings:2j9h.A,PDB-ENSP_mappings:2j9h.B,PDB-ENSP_mappings:2pgt.A,PDB-ENSP_mappings:2pgt.B,PDB-ENSP_mappings:3csh.A,PDB-ENSP_mappings:3csh.B,PDB-ENSP_mappings:3csi.A,PDB-ENSP_mappings:3csi.B,PDB-ENSP_mappings:3csi.C,PDB-ENSP_mappings:3csi.D,PDB-ENSP_mappings:3csj.A,PDB-ENSP_mappings:3csj.B,PDB-ENSP_mappings:3dd3.A,PDB-ENSP_mappings:3dd3.B,PDB-ENSP_mappings:3dgq.A,PDB-ENSP_mappings:3dgq.B,PDB-ENSP_mappings:3gss.A,PDB-ENSP_mappings:3gss.B,PDB-ENSP_mappings:3gus.A,PDB-ENSP_mappings:3gus.B,PDB-ENSP_mappings:3hjm.A,PDB-ENSP_mappings:3hjm.B,PDB-ENSP_mappings:3hjm.C,PDB-ENSP_mappings:3hjm.D,PDB-ENSP_mappings:3hjo.A,PDB-ENSP_mappings:3hjo.B,PDB-ENSP_mappings:3hkr.A,PDB-ENSP_mappings:3hkr.B,PDB-ENSP_mappings:3ie3.A,PDB-ENSP_mappings:3ie3.B,PDB-ENSP_mappings:3km6.A,PDB-ENSP_mappings:3km6.B,PDB-ENSP_mappings:3kmn.A,PDB-ENSP_mappings:3kmn.B,PDB-ENSP_mappings:3kmo.A,PDB-ENSP_mappings:3kmo.B,PDB-ENSP_mappings:3n9j.A,PDB-ENSP_mappings:3n9j.B,PDB-ENSP_mappings:3pgt.A,PDB-ENSP_mappings:3pgt.B,PDB-ENSP_mappings:4gss.A,PDB-ENSP_mappings:4gss.B,PDB-ENSP_mappings:4pgt.A,PDB-ENSP_mappings:4pgt.B,PDB-ENSP_mappings:5dak.A,PDB-ENSP_mappings:5dak.B,PDB-ENSP_mappings:5dal.A,PDB-ENSP_mappings:5dal.B,PDB-ENSP_mappings:5dcg.A,PDB-ENSP_mappings:5dcg.B,PDB-ENSP_mappings:5ddl.A,PDB-ENSP_mappings:5ddl.B,PDB-ENSP_mappings:5djl.A,PDB-ENSP_mappings:5djl.B,PDB-ENSP_mappings:5djm.A,PDB-ENSP_mappings:5djm.B,PDB-ENSP_mappings:5gss.A,PDB-ENSP_mappings:5gss.B,PDB-ENSP_mappings:5j41.A,PDB-ENSP_mappings:5j41.B,PDB-ENSP_mappings:5jcw.A,PDB-ENSP_mappings:5jcw.B,PDB-ENSP_mappings:5l6x.A,PDB-ENSP_mappings:5l6x.B,PDB-ENSP_mappings:5x79.A,PDB-ENSP_mappings:5x79.B,PDB-ENSP_mappings:6gss.A,PDB-ENSP_mappings:6gss.B,PDB-ENSP_mappings:7gss.A,PDB-ENSP_mappings:7gss.B,PDB-ENSP_mappings:8gss.A,PDB-ENSP_mappings:8gss.B,PDB-ENSP_mappings:8gss.C,PDB-ENSP_mappings:9gss.A,PDB-ENSP_mappings:9gss.B,PROSITE_profiles:PS50404,SFLDS00019,SFLDG00363,SFLDG01205,cd03076,hmmpanther:PTHR11571,hmmpanther:PTHR11571:SF214,Gene3D:3.40.30.10,Pfam_domain:PF02798,Superfamily_domains:SSF52833 MODERATE 1 SNV 1 PASS AAA . . 67584560 INPPL1 . GRCh38 chr11 72229945 72229945 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.865A>C p.Met289Leu p.M289L ENST00000298229 8/28 98 83 9 38 37 0 INPPL1,missense_variant,p.Met289Leu,ENST00000298229,NM_001567.3;INPPL1,missense_variant,p.Met47Leu,ENST00000538751,;INPPL1,missense_variant,p.Met223Leu,ENST00000541756,;INPPL1,missense_variant,p.Met17Leu,ENST00000540329,;INPPL1,downstream_gene_variant,,ENST00000537656,;INPPL1,downstream_gene_variant,,ENST00000540973,;INPPL1,downstream_gene_variant,,ENST00000543234,;INPPL1,upstream_gene_variant,,ENST00000535985,;INPPL1,upstream_gene_variant,,ENST00000537755,;INPPL1,upstream_gene_variant,,ENST00000538339,;INPPL1,upstream_gene_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000541544,;INPPL1,upstream_gene_variant,,ENST00000544806,;INPPL1,upstream_gene_variant,,ENST00000545355,; C ENSG00000165458 ENST00000298229 Transcript missense_variant 1069/4733 865/3777 289/1258 M/L Atg/Ctg 1 1 INPPL1 HGNC HGNC:6080 protein_coding YES CCDS8213.1 ENSP00000298229 O15357 UPI000013E4AF NM_001567.3 tolerated(0.25) benign(0) 8/28 hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF15 MODERATE 1 SNV 1 1 PASS CAT . . 72229945 ADAMTS8 . GRCh38 chr11 130428219 130428219 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.68T>G p.Leu23Arg p.L23R ENST00000257359 1/9 81 62 14 28 27 0 ADAMTS8,missense_variant,p.Leu23Arg,ENST00000257359,NM_007037.5;,regulatory_region_variant,,ENSR00000047103,; C ENSG00000134917 ENST00000257359 Transcript missense_variant 775/4010 68/2670 23/889 L/R cTg/cGg 1 -1 ADAMTS8 HGNC HGNC:224 protein_coding YES CCDS41732.1 ENSP00000257359 Q9UP79 UPI000013CF5D NM_007037.5 tolerated(0.34) benign(0.103) 1/9 hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 130428219 SNX19 . GRCh38 chr11 130910374 130910375 + Splice_Region INS - - A rs554200347 7316-397 BS_MN13H3T4 - - c.1814-5_1814-4insT ENST00000265909 69 62 7 28 28 0 SNX19,splice_region_variant,,ENST00000265909,NM_014758.2;SNX19,splice_region_variant,,ENST00000528555,NM_001301089.1;SNX19,splice_region_variant,,ENST00000530356,;SNX19,splice_region_variant,,ENST00000533214,NM_001347921.1;SNX19,upstream_gene_variant,,ENST00000534726,;SNX19,splice_region_variant,,ENST00000533318,;SNX19,upstream_gene_variant,,ENST00000524460,;SNX19,upstream_gene_variant,,ENST00000526579,;SNX19,splice_region_variant,,ENST00000531608,;SNX19,upstream_gene_variant,,ENST00000527451,; A ENSG00000120451 ENST00000265909 Transcript splice_region_variant,intron_variant rs554200347 1 -1 SNX19 HGNC HGNC:21532 protein_coding YES CCDS31721.1 ENSP00000265909 Q92543 UPI000013D6A5 NM_014758.2 2/10 0.0173 0.01691 0.01014 0.0218 0.0219 0.01331 LOW 1 insertion 1 PASS TCC . . 0.07025 0.09555 0.1106 0.07425 0.0814 0.03203 0.06316 0.079 0.06929 130910374 MUC19 . GRCh38 chr12 40513782 40513782 + Splice_Region SNP C C T rs2029615 7316-397 BS_MN13H3T4 C C n.19914C>T ENST00000454784 84/173 145 89 47 55 46 6 MUC19,splice_region_variant,,ENST00000454784,NM_173600.2; T ENSG00000205592 ENST00000454784 Transcript splice_region_variant,non_coding_transcript_exon_variant 19914/24829 rs2029615 1 1 MUC19 HGNC HGNC:14362 processed_transcript NM_173600.2 84/173 0.6621 0.7231 0.6527 0.5605 0.7028 0.6493 LOW 1 SNV 5 PASS ACG . . 40513782 NUAK1 . GRCh38 chr12 106138652 106138652 + Translation_Start_Site SNP A A C novel 7316-397 BS_MN13H3T4 A A c.2T>G p.Met1? p.M1? ENST00000261402 1/7 91 78 7 33 33 0 NUAK1,start_lost,p.Met1?,ENST00000261402,NM_014840.2;,regulatory_region_variant,,ENSR00000056826,; C ENSG00000074590 ENST00000261402 Transcript start_lost 1382/6828 2/1986 1/661 M/R aTg/aGg 1 -1 NUAK1 HGNC HGNC:14311 protein_coding YES CCDS31892.1 ENSP00000261402 O60285 A0A024RBL3 UPI00000403BC NM_014840.2 deleterious_low_confidence(0) benign(0) 1/7 mobidb-lite HIGH 1 SNV 1 PASS CAT . . 106138652 NUAK1 . GRCh38 chr12 106138653 106138653 + Translation_Start_Site SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1A>C p.Met1? p.M1? ENST00000261402 1/7 90 78 9 33 33 0 NUAK1,start_lost,p.Met1?,ENST00000261402,NM_014840.2;,regulatory_region_variant,,ENSR00000056826,; G ENSG00000074590 ENST00000261402 Transcript start_lost 1381/6828 1/1986 1/661 M/L Atg/Ctg 1 -1 NUAK1 HGNC HGNC:14311 protein_coding YES CCDS31892.1 ENSP00000261402 O60285 A0A024RBL3 UPI00000403BC NM_014840.2 deleterious_low_confidence(0) benign(0) 1/7 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 106138653 COL4A1 . GRCh38 chr13 110306938 110306938 + Splice_Region SNP A A C novel 7316-397 BS_MN13H3T4 A A c.84+6T>G ENST00000375820 92 83 9 23 23 0 COL4A1,splice_region_variant,,ENST00000375820,NM_001845.5;COL4A1,splice_region_variant,,ENST00000543140,NM_001303110.1;COL4A2,intron_variant,,ENST00000400163,;COL4A2,upstream_gene_variant,,ENST00000360467,NM_001846.2;COL4A2,upstream_gene_variant,,ENST00000480771,;,regulatory_region_variant,,ENSR00000065805,; C ENSG00000187498 ENST00000375820 Transcript splice_region_variant,intron_variant 1 -1 COL4A1 HGNC HGNC:2202 protein_coding YES CCDS9511.1 ENSP00000364979 P02462 UPI000004981D NM_001845.5 1/51 LOW 1 SNV 1 1 PASS AAC . . 110306938 SLC7A7 . GRCh38 chr14 22812957 22812957 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.442T>G p.Phe148Val p.F148V ENST00000397532 2/10 66 58 6 35 35 0 SLC7A7,missense_variant,p.Phe148Val,ENST00000397532,;SLC7A7,missense_variant,p.Phe148Val,ENST00000555702,NM_001126106.2;SLC7A7,missense_variant,p.Phe148Val,ENST00000285850,;SLC7A7,missense_variant,p.Phe148Val,ENST00000397528,NM_001126105.2;SLC7A7,missense_variant,p.Phe148Val,ENST00000397529,;SLC7A7,missense_variant,p.Phe148Val,ENST00000554758,;SLC7A7,intron_variant,,ENST00000554517,;SLC7A7,downstream_gene_variant,,ENST00000488800,;SLC7A7,downstream_gene_variant,,ENST00000554741,;SLC7A7,downstream_gene_variant,,ENST00000555251,;SLC7A7,downstream_gene_variant,,ENST00000555911,;SLC7A7,downstream_gene_variant,,ENST00000555959,;SLC7A7,downstream_gene_variant,,ENST00000557129,;SLC7A7,downstream_gene_variant,,ENST00000557629,;SLC7A7,downstream_gene_variant,,ENST00000553351,;SLC7A7,downstream_gene_variant,,ENST00000553632,;SLC7A7,downstream_gene_variant,,ENST00000553874,;SLC7A7,missense_variant,p.Phe148Val,ENST00000556287,;,regulatory_region_variant,,ENSR00000066647,; C ENSG00000155465 ENST00000397532 Transcript missense_variant 968/2447 442/1536 148/511 F/V Ttc/Gtc 1 -1 SLC7A7 HGNC HGNC:11065 protein_coding YES CCDS9574.1 ENSP00000380666 Q9UM01 A0A0S2Z502 UPI000000CC04 deleterious(0) probably_damaging(0.981) 2/10 Pfam_domain:PF13520,PIRSF_domain:PIRSF006060,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF303 MODERATE 1 SNV 1 1 PASS AAG . . 22812957 AL136295.3 . GRCh38 chr14 24131562 24131562 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.583A>C p.Asn195Thr p.N195T ENST00000558325 4/4 78 51 18 26 26 0 AL136295.3,missense_variant,p.Asn195Thr,ENST00000558325,;FITM1,5_prime_UTR_variant,,ENST00000267426,NM_203402.2;PSME1,upstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;PSME1,upstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,upstream_gene_variant,,ENST00000559123,;FITM1,upstream_gene_variant,,ENST00000559294,;PSME1,upstream_gene_variant,,ENST00000561435,NM_001281528.1;PSME1,upstream_gene_variant,,ENST00000470718,;PSME1,upstream_gene_variant,,ENST00000561059,;PSME1,upstream_gene_variant,,ENST00000561142,;,regulatory_region_variant,,ENSR00000066829,; C ENSG00000259371 ENST00000558325 Transcript missense_variant 583/850 584/851 195/283 N/T aAc/aCc 1 1 AL136295.3 Clone_based_ensembl_gene protein_coding YES ENSP00000453089 H0YL77 UPI0004620A05 deleterious_low_confidence(0.01) benign(0.024) 4/4 MODERATE SNV 5 PASS AAC . . 24131562 PRKD1 . GRCh38 chr14 29927466 29927466 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.47T>G p.Val16Gly p.V16G ENST00000415220 1/19 69 52 11 28 26 0 PRKD1,missense_variant,p.Val16Gly,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Val16Gly,ENST00000616995,;PRKD1,missense_variant,p.Val16Gly,ENST00000415220,;PRKD1,intron_variant,,ENST00000549503,;,regulatory_region_variant,,ENSR00000067110,; C ENSG00000184304 ENST00000415220 Transcript missense_variant 177/3189 47/2763 16/920 V/G gTg/gGg 1 -1 PRKD1 HGNC HGNC:9407 protein_coding YES CCDS81796.1 ENSP00000390535 F8WBA3 UPI00020CDFDA tolerated_low_confidence(0.34) benign(0.003) 1/19 Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000552 MODERATE 1 SNV 5 1 PASS CAC . . 29927466 GPR135 . GRCh38 chr14 59465066 59465066 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.161A>C p.Asn54Thr p.N54T ENST00000395116 1/1 103 85 13 43 42 0 GPR135,missense_variant,p.Asn54Thr,ENST00000395116,NM_022571.5;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,missense_variant,p.Asn54Thr,ENST00000481661,;,regulatory_region_variant,,ENSR00000069182,; G ENSG00000181619 ENST00000395116 Transcript missense_variant 277/4578 161/1485 54/494 N/T aAc/aCc 1 -1 GPR135 HGNC HGNC:19991 protein_coding YES CCDS9738.1 ENSP00000378548 Q8IZ08 UPI0000046D5B NM_022571.5 tolerated_low_confidence(0.07) benign(0.001) 1/1 hmmpanther:PTHR22752:SF3,hmmpanther:PTHR22752 MODERATE 1 SNV PASS GTT . . 59465066 CRIP2 . GRCh38 chr14 105478506 105478506 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.417A>C p.Lys139Asn p.K139N ENST00000483017 3/8 87 62 19 21 21 0 CRIP2,missense_variant,p.Lys65Asn,ENST00000329146,NM_001312.3;CRIP2,missense_variant,p.Lys139Asn,ENST00000483017,NM_001270837.1;CRIP2,missense_variant,p.Lys49Asn,ENST00000538259,;CRIP2,intron_variant,,ENST00000550577,NM_001270841.1;CRIP2,splice_region_variant,,ENST00000548989,;CRIP2,splice_region_variant,,ENST00000548309,;CRIP2,splice_region_variant,,ENST00000548923,;CRIP2,splice_region_variant,,ENST00000547643,;CRIP2,splice_region_variant,,ENST00000551836,;CRIP2,non_coding_transcript_exon_variant,,ENST00000552643,;CRIP2,upstream_gene_variant,,ENST00000551738,; C ENSG00000182809 ENST00000483017 Transcript missense_variant,splice_region_variant 703/1176 417/849 139/282 K/N aaA/aaC 1 1 CRIP2 HGNC HGNC:2361 protein_coding YES CCDS59246.1 ENSP00000426119 P52943 UPI0001914E41 NM_001270837.1 deleterious(0) probably_damaging(0.981) 3/8 hmmpanther:PTHR24208:SF87,hmmpanther:PTHR24208,Gene3D:2.10.110.10,Superfamily_domains:SSF57716 MODERATE 1 SNV 2 PASS AAG . . 105478506 KLF13 . GRCh38 chr15 31327544 31327544 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.332A>C p.Glu111Ala p.E111A ENST00000307145 1/2 73 49 9 22 21 0 KLF13,missense_variant,p.Glu111Ala,ENST00000307145,NM_015995.3;KLF13,upstream_gene_variant,,ENST00000558921,;,regulatory_region_variant,,ENSR00000074488,; C ENSG00000169926 ENST00000307145 Transcript missense_variant 690/6825 332/867 111/288 E/A gAa/gCa 1 1 KLF13 HGNC HGNC:13672 protein_coding YES CCDS10025.1 ENSP00000302456 Q9Y2Y9 X5DNR2 UPI000012DEDC NM_015995.3 tolerated(0.41) benign(0) 1/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GAA . . 31327544 INAFM2 . GRCh38 chr15 40324384 40324384 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.329T>G p.Val110Gly p.V110G ENST00000638170 1/1 79 66 11 21 19 0 INAFM2,missense_variant,p.Val110Gly,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; G ENSG00000259330 ENST00000638170 Transcript missense_variant 721/3052 329/462 110/153 V/G gTt/gGt 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 tolerated_low_confidence(0.16) unknown(0) 1/1 mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GTT . . 40324384 INAFM2 . GRCh38 chr15 40324453 40324453 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.398T>G p.Leu133Arg p.L133R ENST00000638170 1/1 76 51 11 29 27 0 INAFM2,missense_variant,p.Leu133Arg,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; G ENSG00000259330 ENST00000638170 Transcript missense_variant 790/3052 398/462 133/153 L/R cTc/cGc 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS CTC . . 40324453 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 78 52 16 29 26 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 CHST14 . GRCh38 chr15 40471251 40471251 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.38A>C p.Asn13Thr p.N13T ENST00000306243 1/1 77 50 10 25 23 0 CHST14,missense_variant,p.Asn13Thr,ENST00000306243,NM_130468.3;CHST14,missense_variant,p.Asn13Thr,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000416165,NM_014952.4;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000561234,NM_001301132.1;AC013356.2,upstream_gene_variant,,ENST00000559730,;,regulatory_region_variant,,ENSR00000075526,; C ENSG00000169105 ENST00000306243 Transcript missense_variant 254/3574 38/1131 13/376 N/T aAt/aCt 1 1 CHST14 HGNC HGNC:24464 protein_coding YES CCDS10059.1 ENSP00000307297 Q8NCH0 UPI000004616D NM_130468.3 tolerated_low_confidence(0.6) benign(0.006) 1/1 MODERATE SNV 1 PASS AAT . . 40471251 SERINC4 . GRCh38 chr15 43799386 43799386 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.203A>C p.His68Pro p.H68P ENST00000319327 2/12 69 55 10 25 25 0 SERINC4,missense_variant,p.His68Pro,ENST00000319327,NM_001258032.1,NM_001258031.1;SERINC4,missense_variant,p.His68Pro,ENST00000299969,;HYPK,5_prime_UTR_variant,,ENST00000406925,;SERF2,intron_variant,,ENST00000409291,;SERF2,intron_variant,,ENST00000409646,;SERF2,downstream_gene_variant,,ENST00000249786,NM_001018108.3;SERF2,downstream_gene_variant,,ENST00000381359,NM_001199877.1;SERF2,downstream_gene_variant,,ENST00000409960,NM_001199875.1;SERF2,downstream_gene_variant,,ENST00000430901,;HYPK,upstream_gene_variant,,ENST00000442995,NM_016400.3;HYPK,upstream_gene_variant,,ENST00000458412,NM_001199885.1;SERF2,downstream_gene_variant,,ENST00000630046,;HYPK,upstream_gene_variant,,ENST00000497142,;HYPK,upstream_gene_variant,,ENST00000498605,;SERINC4,missense_variant,p.Met82Leu,ENST00000457418,;SERF2,3_prime_UTR_variant,,ENST00000448830,;SERF2,intron_variant,,ENST00000409617,;SERINC4,upstream_gene_variant,,ENST00000412697,;AC018512.1,upstream_gene_variant,,ENST00000417761,;SERF2,downstream_gene_variant,,ENST00000445816,;SERINC4,upstream_gene_variant,,ENST00000448553,;SERINC4,upstream_gene_variant,,ENST00000476490,; G ENSG00000184716 ENST00000319327 Transcript missense_variant 438/2630 203/1557 68/518 H/P cAt/cCt 1 -1 SERINC4 HGNC HGNC:32237 protein_coding YES CCDS58360.1 ENSP00000319796 A6NH21 UPI000066D938 NM_001258032.1,NM_001258031.1 deleterious(0.04) probably_damaging(0.987) 2/12 Pfam_domain:PF03348,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF5,Transmembrane_helices:TMhelix MODERATE SNV 5 PASS ATG . . 43799386 GNPTG . GRCh38 chr16 1352099 1352099 + Splice_Region SNP T T G novel 7316-397 BS_MN13H3T4 T T c.53-3T>G ENST00000204679 82 57 15 37 34 0 GNPTG,missense_variant,p.Val40Gly,ENST00000529110,;GNPTG,splice_region_variant,,ENST00000204679,NM_032520.4;GNPTG,splice_region_variant,,ENST00000527137,;TSR3,upstream_gene_variant,,ENST00000007390,NM_001001410.2;BAIAP3,downstream_gene_variant,,ENST00000324385,NM_003933.4;BAIAP3,downstream_gene_variant,,ENST00000397488,NM_001286464.1;BAIAP3,downstream_gene_variant,,ENST00000421665,NM_001199096.1;BAIAP3,downstream_gene_variant,,ENST00000426824,NM_001199097.1;BAIAP3,downstream_gene_variant,,ENST00000561793,;BAIAP3,downstream_gene_variant,,ENST00000562208,NM_001199098.1;BAIAP3,downstream_gene_variant,,ENST00000566162,;BAIAP3,downstream_gene_variant,,ENST00000568887,NM_001199099.1;BAIAP3,downstream_gene_variant,,ENST00000628027,;BAIAP3,downstream_gene_variant,,ENST00000564213,;GNPTG,splice_region_variant,,ENST00000526820,;GNPTG,splice_region_variant,,ENST00000527168,;GNPTG,splice_region_variant,,ENST00000527876,;GNPTG,splice_region_variant,,ENST00000529957,;GNPTG,splice_region_variant,,ENST00000534197,;TSR3,upstream_gene_variant,,ENST00000566296,;BAIAP3,downstream_gene_variant,,ENST00000566389,;,regulatory_region_variant,,ENSR00000082335,; G ENSG00000090581 ENST00000204679 Transcript splice_region_variant,intron_variant 1 1 GNPTG HGNC HGNC:23026 protein_coding YES CCDS10436.1 ENSP00000204679 Q9UJJ9 UPI0000073F3C NM_032520.4 1/10 LOW 1 SNV 1 1 PASS GTA . . 1352099 PKD1 . GRCh38 chr16 2091518 2091518 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.11617T>G p.Phe3873Val p.F3873V ENST00000262304 42/46 82 69 11 28 26 0 PKD1,missense_variant,p.Phe3873Val,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Phe3872Val,ENST00000423118,NM_000296.3;TSC2,downstream_gene_variant,,ENST00000219476,NM_000548.4;TSC2,downstream_gene_variant,,ENST00000350773,NM_001114382.2;TSC2,downstream_gene_variant,,ENST00000382538,NM_001318829.1;TSC2,downstream_gene_variant,,ENST00000401874,NM_001077183.2;TSC2,downstream_gene_variant,,ENST00000439673,NM_001318827.1;TSC2,downstream_gene_variant,,ENST00000568454,NM_001318832.1;TSC2,downstream_gene_variant,,ENST00000642365,;TSC2,downstream_gene_variant,,ENST00000642561,;TSC2,downstream_gene_variant,,ENST00000642797,;TSC2,downstream_gene_variant,,ENST00000642936,NM_001318831.1;TSC2,downstream_gene_variant,,ENST00000643088,;TSC2,downstream_gene_variant,,ENST00000643946,;TSC2,downstream_gene_variant,,ENST00000644043,;TSC2,downstream_gene_variant,,ENST00000644329,;TSC2,downstream_gene_variant,,ENST00000644335,;TSC2,downstream_gene_variant,,ENST00000644399,;TSC2,downstream_gene_variant,,ENST00000646388,;MIR1225,upstream_gene_variant,,ENST00000408729,;AC009065.2,non_coding_transcript_exon_variant,,ENST00000570072,;AC009065.2,upstream_gene_variant,,ENST00000563284,;AC009065.5,downstream_gene_variant,,ENST00000565937,;TSC2,downstream_gene_variant,,ENST00000642728,;TSC2,downstream_gene_variant,,ENST00000646634,;PKD1,3_prime_UTR_variant,,ENST00000487932,;PKD1,3_prime_UTR_variant,,ENST00000561668,;PKD1,non_coding_transcript_exon_variant,,ENST00000485120,;PKD1,intron_variant,,ENST00000564313,;TSC2,downstream_gene_variant,,ENST00000439117,;PKD1,upstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000472659,;TSC2,downstream_gene_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000562425,;PKD1,downstream_gene_variant,,ENST00000567355,;PKD1,downstream_gene_variant,,ENST00000568796,;TSC2,downstream_gene_variant,,ENST00000569110,;TSC2,downstream_gene_variant,,ENST00000569930,;TSC2,downstream_gene_variant,,ENST00000642791,;TSC2,downstream_gene_variant,,ENST00000643177,;TSC2,downstream_gene_variant,,ENST00000643426,;TSC2,downstream_gene_variant,,ENST00000644278,;TSC2,downstream_gene_variant,,ENST00000645024,;TSC2,downstream_gene_variant,,ENST00000646557,;TSC2,downstream_gene_variant,,ENST00000646674,;TSC2,downstream_gene_variant,,ENST00000647042,;TSC2,downstream_gene_variant,,ENST00000647180,;,regulatory_region_variant,,ENSR00000082436,; C ENSG00000008710 ENST00000262304 Transcript missense_variant 11826/14138 11617/12912 3873/4303 F/V Ttc/Gtc 1 -1 PKD1 HGNC HGNC:9008 protein_coding YES CCDS32369.1 ENSP00000262304 P98161 UPI00001B0454 NM_001009944.2 deleterious(0.01) probably_damaging(1) 42/46 Pfam_domain:PF08016,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF175 MODERATE 1 SNV 1 1 PASS AAC . . 2091518 MAZ . GRCh38 chr16 29807324 29807324 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.539T>G p.Leu180Trp p.L180W ENST00000219782 2/6 82 68 6 39 39 0 MAZ,missense_variant,p.Leu180Trp,ENST00000219782,NM_001042539.2;MAZ,missense_variant,p.Leu180Trp,ENST00000322945,NM_002383.3;MAZ,missense_variant,p.Leu157Trp,ENST00000545521,NM_001276275.1;MAZ,intron_variant,,ENST00000562337,NM_001276276.1;MAZ,intron_variant,,ENST00000563402,;MAZ,intron_variant,,ENST00000566906,;KIF22,downstream_gene_variant,,ENST00000160827,NM_007317.2;PRRT2,upstream_gene_variant,,ENST00000300797,NM_001256443.1;PRRT2,upstream_gene_variant,,ENST00000358758,NM_145239.2;KIF22,downstream_gene_variant,,ENST00000400751,;KIF22,downstream_gene_variant,,ENST00000561482,NM_001256270.1,NM_001256269.1;PRRT2,upstream_gene_variant,,ENST00000562148,;MAZ,upstream_gene_variant,,ENST00000562557,;MAZ,upstream_gene_variant,,ENST00000563012,;MAZ,upstream_gene_variant,,ENST00000567444,;PRRT2,upstream_gene_variant,,ENST00000567551,;PRRT2,upstream_gene_variant,,ENST00000567659,NM_001256442.1;MAZ,upstream_gene_variant,,ENST00000568282,;MAZ,upstream_gene_variant,,ENST00000568411,;MAZ,upstream_gene_variant,,ENST00000568544,;KIF22,downstream_gene_variant,,ENST00000569382,;MAZ,upstream_gene_variant,,ENST00000569978,;PRRT2,upstream_gene_variant,,ENST00000572820,;MAZ,upstream_gene_variant,,ENST00000616501,;PRRT2,upstream_gene_variant,,ENST00000636619,;PRRT2,upstream_gene_variant,,ENST00000637403,;PRRT2,upstream_gene_variant,,ENST00000637565,;PRRT2,upstream_gene_variant,,ENST00000637596,;PRRT2,upstream_gene_variant,,ENST00000645336,;AC009133.2,non_coding_transcript_exon_variant,,ENST00000566537,;AC009133.1,downstream_gene_variant,,ENST00000563806,;AC009133.1,downstream_gene_variant,,ENST00000569039,;AC009133.1,downstream_gene_variant,,ENST00000569981,;AC009133.4,upstream_gene_variant,,ENST00000619159,;AC009133.5,upstream_gene_variant,,ENST00000562594,;PRRT2,upstream_gene_variant,,ENST00000568516,;PRRT2,upstream_gene_variant,,ENST00000636001,;PRRT2,upstream_gene_variant,,ENST00000636019,;PRRT2,upstream_gene_variant,,ENST00000637542,;MAZ,intron_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000565777,;KIF22,downstream_gene_variant,,ENST00000568312,;AC009133.6,upstream_gene_variant,,ENST00000609618,;PRRT2,upstream_gene_variant,,ENST00000636131,;PRRT2,upstream_gene_variant,,ENST00000637290,;,regulatory_region_variant,,ENSR00000280275,; G ENSG00000103495 ENST00000219782 Transcript missense_variant 645/2698 539/1482 180/493 L/W tTg/tGg 1 1 MAZ HGNC HGNC:6914 protein_coding YES CCDS42144.1 ENSP00000219782 P56270 UPI00001AE621 NM_001042539.2 deleterious(0.01) possibly_damaging(0.884) 2/6 Gene3D:3.30.60.60,hmmpanther:PTHR45257 MODERATE 1 SNV 1 PASS TTG . . 29807324 N4BP1 . GRCh38 chr16 48609972 48609972 + Translation_Start_Site SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1A>C p.Met1? p.M1? ENST00000262384 1/7 81 66 12 37 36 0 N4BP1,start_lost,p.Met1?,ENST00000262384,NM_153029.3;N4BP1,intron_variant,,ENST00000564124,;,regulatory_region_variant,,ENSR00000085633,; G ENSG00000102921 ENST00000262384 Transcript start_lost 238/7106 1/2691 1/896 M/L Atg/Ctg 1 -1 N4BP1 HGNC HGNC:29850 protein_coding YES CCDS45479.1 ENSP00000262384 O75113 UPI000013D2A2 NM_153029.3 deleterious_low_confidence(0) benign(0.003) 1/7 hmmpanther:PTHR12876:SF26,hmmpanther:PTHR12876 HIGH 1 SNV 1 PASS ATG . . 48609972 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 103 78 22 36 33 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 RILP . GRCh38 chr17 1649450 1649450 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.284A>C p.Asn95Thr p.N95T ENST00000301336 2/8 97 82 11 24 23 0 RILP,missense_variant,p.Asn95Thr,ENST00000301336,NM_031430.2;SCARF1,upstream_gene_variant,,ENST00000263071,NM_003693.3;PRPF8,downstream_gene_variant,,ENST00000304992,NM_006445.3;SCARF1,upstream_gene_variant,,ENST00000348987,;SCARF1,upstream_gene_variant,,ENST00000571272,NM_145350.2;PRPF8,downstream_gene_variant,,ENST00000571958,;PRPF8,downstream_gene_variant,,ENST00000572621,;RILP,upstream_gene_variant,,ENST00000574810,;SCARF1,upstream_gene_variant,,ENST00000574545,;PRPF8,downstream_gene_variant,,ENST00000575116,;SCARF1,upstream_gene_variant,,ENST00000434376,;RILP,upstream_gene_variant,,ENST00000570858,;PRPF8,downstream_gene_variant,,ENST00000572723,;RILP,upstream_gene_variant,,ENST00000573398,;SCARF1,upstream_gene_variant,,ENST00000573852,;SCARF1,upstream_gene_variant,,ENST00000573867,;SCARF1,upstream_gene_variant,,ENST00000576012,;PRPF8,downstream_gene_variant,,ENST00000576585,;,regulatory_region_variant,,ENSR00000090122,; G ENSG00000167705 ENST00000301336 Transcript missense_variant 557/1771 284/1206 95/401 N/T aAc/aCc 1 -1 RILP HGNC HGNC:30266 protein_coding YES CCDS11009.1 ENSP00000301336 Q96NA2 UPI0000073C49 NM_031430.2 deleterious(0.01) possibly_damaging(0.682) 2/8 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51776,hmmpanther:PTHR21502:SF7,hmmpanther:PTHR21502,Gene3D:1.20.1170.10,Pfam_domain:PF09744 MODERATE 1 SNV 1 PASS GTT . . 1649450 HES7 . GRCh38 chr17 8121591 8121591 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.673T>G p.Phe225Val p.F225V ENST00000541682 4/4 100 70 18 32 32 0 HES7,missense_variant,p.Phe225Val,ENST00000541682,NM_001165967.1;HES7,missense_variant,p.Phe220Val,ENST00000317814,NM_032580.3;ALOXE3,upstream_gene_variant,,ENST00000318227,NM_001165960.1;ALOXE3,upstream_gene_variant,,ENST00000380149,;ALOXE3,upstream_gene_variant,,ENST00000448843,NM_021628.2;HES7,downstream_gene_variant,,ENST00000577735,;,regulatory_region_variant,,ENSR00000282321,; C ENSG00000179111 ENST00000541682 Transcript missense_variant 673/1674 673/693 225/230 F/V Ttc/Gtc 1 -1 HES7 HGNC HGNC:15977 protein_coding YES CCDS54085.1 ENSP00000446205 Q9BYE0 UPI0000E59E09 NM_001165967.1 tolerated(1) benign(0.039) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10985:SF84,hmmpanther:PTHR10985 MODERATE 1 SNV 1 1 PASS AAA . . 8121591 SREBF1 . GRCh38 chr17 17820114 17820114 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.589A>C p.Ser197Arg p.S197R ENST00000355815 3/20 91 71 10 18 18 0 SREBF1,missense_variant,p.Ser197Arg,ENST00000355815,NM_001321096.2,NM_001005291.2;SREBF1,missense_variant,p.Ser167Arg,ENST00000261646,NM_004176.4;SREBF1,missense_variant,p.Ser143Arg,ENST00000423161,;SREBF1,intron_variant,,ENST00000577897,;SREBF1,upstream_gene_variant,,ENST00000395757,;SREBF1,intron_variant,,ENST00000583732,;SREBF1,5_prime_UTR_variant,,ENST00000395751,;SREBF1,non_coding_transcript_exon_variant,,ENST00000476994,;SREBF1,upstream_gene_variant,,ENST00000395756,;SREBF1,upstream_gene_variant,,ENST00000447641,;SREBF1,upstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000470247,;SREBF1,upstream_gene_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000487401,;SREBF1,upstream_gene_variant,,ENST00000490796,;SREBF1,upstream_gene_variant,,ENST00000580540,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,upstream_gene_variant,,ENST00000583080,;SREBF1,upstream_gene_variant,,ENST00000584760,;,regulatory_region_variant,,ENSR00000091994,; G ENSG00000072310 ENST00000355815 Transcript missense_variant 759/4253 589/3534 197/1177 S/R Agc/Cgc 1 -1 SREBF1 HGNC HGNC:11289 protein_coding YES CCDS32583.1 ENSP00000348069 P36956 UPI00004432F6 NM_001321096.2,NM_001005291.2 deleterious(0.01) benign(0.075) 3/20 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12565:SF5,hmmpanther:PTHR12565 MODERATE 1 SNV 1 PASS CTG . . 17820114 PLXDC1 . GRCh38 chr17 39151437 39151437 + Translation_Start_Site SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1A>C p.Met1? p.M1? ENST00000315392 1/14 85 70 11 26 26 0 PLXDC1,start_lost,p.Met1?,ENST00000315392,NM_020405.4;PLXDC1,intron_variant,,ENST00000415163,;PLXDC1,intron_variant,,ENST00000441877,;PLXDC1,intron_variant,,ENST00000444911,;PLXDC1,intron_variant,,ENST00000579190,;PLXDC1,intron_variant,,ENST00000577941,;PLXDC1,intron_variant,,ENST00000580667,;PLXDC1,intron_variant,,ENST00000583285,;PLXDC1,start_lost,p.Met1?,ENST00000578390,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000394318,;PLXDC1,intron_variant,,ENST00000461225,;PLXDC1,intron_variant,,ENST00000578517,;PLXDC1,intron_variant,,ENST00000578808,;,regulatory_region_variant,,ENSR00000283331,; G ENSG00000161381 ENST00000315392 Transcript start_lost 213/6252 1/1503 1/500 M/L Atg/Ctg 1 -1 PLXDC1 HGNC HGNC:20945 protein_coding YES CCDS11333.1 ENSP00000323927 Q8IUK5 UPI0000049814 NM_020405.4 tolerated_low_confidence(0.06) possibly_damaging(0.456) 1/14 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13055,hmmpanther:PTHR13055:SF10 HIGH 1 SNV 1 PASS ATG . . 39151437 KRT10 . GRCh38 chr17 40822514 40822516 + In_Frame_Del DEL TCC TCC - rs148510452 7316-397 BS_MN13H3T4 TCC TCC c.70_72del p.Gly24del p.G24del ENST00000269576 1/8 54 43 5 23 20 0 KRT10,inframe_deletion,p.Gly24del,ENST00000269576,NM_000421.3;TMEM99,intron_variant,,ENST00000301665,NM_145274.3,NM_001195387.1;TMEM99,intron_variant,,ENST00000436612,;TMEM99,intron_variant,,ENST00000622451,NM_001195386.1;KRT10,upstream_gene_variant,,ENST00000635956,;TMEM99,intron_variant,,ENST00000496847,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; - ENSG00000186395 ENST00000269576 Transcript inframe_deletion 80-82/2124 70-72/1755 24/584 G/- GGA/- rs148510452,TMP_ESP_17_38978766_38978768,COSM392056 1 -1 KRT10 HGNC HGNC:6413 protein_coding YES CCDS11377.1 ENSP00000269576 P13645 UPI000013D842 NM_000421.3 1/8 hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF137,mobidb-lite,Low_complexity_(Seg):seg 0.162 0.181 0,0,1 MODERATE 1 deletion 1 0,0,1 1 PASS CATCCT . . 0.01958 0.01646 0.01539 0.01484 0.0164 0.02007 0.0194 0.01894 0.02899 40822513 P3H4 . GRCh38 chr17 41811646 41811646 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.270T>G p.Asp90Glu p.D90E ENST00000355468 2/9 100 86 12 33 32 0 P3H4,missense_variant,p.Asp90Glu,ENST00000355468,;P3H4,missense_variant,p.Asp90Glu,ENST00000393928,NM_006455.2;FKBP10,upstream_gene_variant,,ENST00000321562,NM_021939.3;FKBP10,upstream_gene_variant,,ENST00000429461,;FKBP10,upstream_gene_variant,,ENST00000585664,;FKBP10,upstream_gene_variant,,ENST00000585922,;P3H4,downstream_gene_variant,,ENST00000590496,;P3H4,upstream_gene_variant,,ENST00000592026,;P3H4,non_coding_transcript_exon_variant,,ENST00000467164,;P3H4,upstream_gene_variant,,ENST00000465097,;P3H4,upstream_gene_variant,,ENST00000484247,;FKBP10,upstream_gene_variant,,ENST00000489591,;P3H4,upstream_gene_variant,,ENST00000587455,;,regulatory_region_variant,,ENSR00000094294,; C ENSG00000141696 ENST00000355468 Transcript missense_variant 737/2791 270/1314 90/437 D/E gaT/gaG 1 -1 P3H4 HGNC HGNC:16946 protein_coding YES CCDS11408.1 ENSP00000347649 Q92791 UPI00001302A2 tolerated(0.79) benign(0) 2/9 Gene3D:1.25.40.10,hmmpanther:PTHR13986,hmmpanther:PTHR13986:SF4,Low_complexity_(Seg):seg MODERATE SNV 2 PASS GAT . . 41811646 C17orf113 . GRCh38 chr17 42039886 42039886 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1847A>C p.Lys616Thr p.K616T ENST00000587304 3/3 88 66 15 31 30 0 C17orf113,missense_variant,p.Lys616Thr,ENST00000587304,;ZNF385C,intron_variant,,ENST00000436535,;ZNF385C,upstream_gene_variant,,ENST00000618554,NM_001242704.1; G ENSG00000267221 ENST00000587304 Transcript missense_variant 2092/3746 1847/2028 616/675 K/T aAg/aCg 1 -1 C17orf113 HGNC HGNC:53437 protein_coding YES ENSP00000490245 A0A1B0GUU1 UPI00021AECEB deleterious(0) probably_damaging(0.997) 3/3 hmmpanther:PTHR11697:SF183,hmmpanther:PTHR11697 MODERATE 1 SNV 5 PASS CTT . . 42039886 PPM1E . GRCh38 chr17 58756192 58756192 + Missense_Mutation SNP A A C rs745942068 7316-397 BS_MN13H3T4 A A c.195A>C p.Glu65Asp p.E65D ENST00000308249 1/7 91 69 19 26 26 0 PPM1E,missense_variant,p.Glu65Asp,ENST00000308249,NM_014906.4;,regulatory_region_variant,,ENSR00000096303,; C ENSG00000175175 ENST00000308249 Transcript missense_variant 324/6542 195/2268 65/755 E/D gaA/gaC rs745942068 1 1 PPM1E HGNC HGNC:19322 protein_coding YES CCDS11613.1 ENSP00000312411 Q8WY54 UPI000013ECF6 NM_014906.4 tolerated_low_confidence(0.2) benign(0) 1/7 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 6.396e-06 4.176e-05 58756192 AATK . GRCh38 chr17 81120475 81120475 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.3461T>G p.Leu1154Trp p.L1154W ENST00000326724 11/14 82 67 12 22 22 0 AATK,missense_variant,p.Leu1154Trp,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Leu1051Trp,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;MIR657,downstream_gene_variant,,ENST00000385003,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,intron_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,; C ENSG00000181409 ENST00000326724 Transcript missense_variant 3486/5257 3461/4125 1154/1374 L/W tTg/tGg 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 tolerated(0.19) benign(0.318) 11/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS CAA . . 81120475 MIDN . GRCh38 chr19 1257044 1257044 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.1179A>C p.Glu393Asp p.E393D ENST00000300952 8/8 86 76 9 36 36 0 MIDN,missense_variant,p.Glu393Asp,ENST00000300952,NM_177401.4;MIDN,missense_variant,p.Glu393Asp,ENST00000591446,;MIDN,downstream_gene_variant,,ENST00000586757,;MIDN,downstream_gene_variant,,ENST00000586843,;CIRBP,upstream_gene_variant,,ENST00000588030,;CIRBP,upstream_gene_variant,,ENST00000588411,;CIRBP,upstream_gene_variant,,ENST00000592051,;CIRBP,upstream_gene_variant,,ENST00000589161,;MIDN,downstream_gene_variant,,ENST00000590136,;MIDN,downstream_gene_variant,,ENST00000591302,;CIRBP,upstream_gene_variant,,ENST00000591622,;CIRBP,upstream_gene_variant,,ENST00000592467,; C ENSG00000167470 ENST00000300952 Transcript missense_variant 1694/3790 1179/1407 393/468 E/D gaA/gaC 1 1 MIDN HGNC HGNC:16298 protein_coding YES CCDS32864.1 ENSP00000300952 Q504T8 UPI0000202EF1 NM_177401.4 deleterious(0.01) possibly_damaging(0.901) 8/8 hmmpanther:PTHR23010 MODERATE 1 SNV 5 PASS AAC . . 1257044 APBA3 . GRCh38 chr19 3752707 3752707 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1196A>C p.Lys399Thr p.K399T ENST00000316757 8/11 92 77 13 27 26 0 APBA3,missense_variant,p.Lys399Thr,ENST00000316757,NM_004886.3;TJP3,downstream_gene_variant,,ENST00000539908,;TJP3,downstream_gene_variant,,ENST00000541714,NM_001267560.1;TJP3,downstream_gene_variant,,ENST00000587686,;TJP3,downstream_gene_variant,,ENST00000589378,NM_001267561.1;AC005954.2,upstream_gene_variant,,ENST00000586503,;AC005954.1,downstream_gene_variant,,ENST00000591962,;TJP3,downstream_gene_variant,,ENST00000587641,;APBA3,non_coding_transcript_exon_variant,,ENST00000590064,;APBA3,non_coding_transcript_exon_variant,,ENST00000588984,;APBA3,non_coding_transcript_exon_variant,,ENST00000592826,;TJP3,downstream_gene_variant,,ENST00000586032,;APBA3,upstream_gene_variant,,ENST00000586991,;APBA3,downstream_gene_variant,,ENST00000590238,;TJP3,downstream_gene_variant,,ENST00000591493,;APBA3,upstream_gene_variant,,ENST00000591678,; G ENSG00000011132 ENST00000316757 Transcript missense_variant 1397/2075 1196/1728 399/575 K/T aAg/aCg 1 -1 APBA3 HGNC HGNC:580 protein_coding YES CCDS12110.1 ENSP00000315136 O96018 UPI0000125C0D NM_004886.3 deleterious(0.03) probably_damaging(0.989) 8/11 PDB-ENSP_mappings:2yt7.A,PROSITE_profiles:PS50106,cd00992,hmmpanther:PTHR12345:SF9,hmmpanther:PTHR12345,Gene3D:2.30.42.10,Pfam_domain:PF00595,Superfamily_domains:SSF50156 MODERATE 1 SNV 1 PASS CTT . . 3752707 SLC44A2 . GRCh38 chr19 10625659 10625659 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.26A>C p.Tyr9Ser p.Y9S ENST00000335757 1/22 95 86 7 38 37 0 SLC44A2,missense_variant,p.Tyr9Ser,ENST00000586078,;SLC44A2,missense_variant,p.Tyr9Ser,ENST00000335757,NM_020428.3;SLC44A2,missense_variant,p.Tyr9Ser,ENST00000588688,;SLC44A2,intron_variant,,ENST00000407327,NM_001145056.1;SLC44A2,intron_variant,,ENST00000590382,;SLC44A2,intron_variant,,ENST00000590857,;SLC44A2,missense_variant,p.Tyr9Ser,ENST00000592293,;SLC44A2,missense_variant,p.Tyr9Ser,ENST00000588409,;SLC44A2,intron_variant,,ENST00000588465,;,regulatory_region_variant,,ENSR00000107054,; C ENSG00000129353 ENST00000335757 Transcript missense_variant 402/3671 26/2121 9/706 Y/S tAc/tCc 1 1 SLC44A2 HGNC HGNC:17292 protein_coding YES CCDS12245.1 ENSP00000336888 Q8IWA5 UPI000013CCAB NM_020428.3 tolerated(0.54) benign(0.003) 1/22 hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF34 MODERATE 1 SNV 1 PASS TAC . . 10625659 SAMD1 . GRCh38 chr19 14090372 14090372 + Missense_Mutation SNP T T G rs987964190 7316-397 BS_MN13H3T4 T T c.49A>C p.Thr17Pro p.T17P ENST00000533683 1/5 38 22 9 15 14 0 SAMD1,missense_variant,p.Thr17Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 337/2164 49/1299 17/432 T/P Acc/Ccc rs987964190 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.336) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090372 NDUFB7 . GRCh38 chr19 14566263 14566263 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.284A>C p.Tyr95Ser p.Y95S ENST00000215565 3/3 95 80 13 32 32 0 NDUFB7,missense_variant,p.Tyr95Ser,ENST00000215565,NM_004146.5;TECR,downstream_gene_variant,,ENST00000215567,NM_138501.5;TECR,downstream_gene_variant,,ENST00000596073,NM_001321170.1;TECR,downstream_gene_variant,,ENST00000601187,;TECR,downstream_gene_variant,,ENST00000596164,;TECR,downstream_gene_variant,,ENST00000598298,;TECR,downstream_gene_variant,,ENST00000598715,;TECR,downstream_gene_variant,,ENST00000598918,;TECR,downstream_gene_variant,,ENST00000600083,;TECR,downstream_gene_variant,,ENST00000642961,;NDUFB7,splice_region_variant,,ENST00000593353,;TECR,downstream_gene_variant,,ENST00000593637,;TECR,downstream_gene_variant,,ENST00000593775,;TECR,downstream_gene_variant,,ENST00000594545,;TECR,downstream_gene_variant,,ENST00000594807,;TECR,downstream_gene_variant,,ENST00000594958,;TECR,downstream_gene_variant,,ENST00000596953,;TECR,downstream_gene_variant,,ENST00000597607,;TECR,downstream_gene_variant,,ENST00000598333,;TECR,downstream_gene_variant,,ENST00000598408,;TECR,downstream_gene_variant,,ENST00000598987,;TECR,downstream_gene_variant,,ENST00000599101,;TECR,downstream_gene_variant,,ENST00000600076,;TECR,downstream_gene_variant,,ENST00000600395,;TECR,downstream_gene_variant,,ENST00000601350,;TECR,downstream_gene_variant,,ENST00000601461,;TECR,downstream_gene_variant,,ENST00000601652,; G ENSG00000099795 ENST00000215565 Transcript missense_variant,splice_region_variant 346/531 284/414 95/137 Y/S tAt/tCt 1 -1 NDUFB7 HGNC HGNC:7702 protein_coding YES CCDS12314.1 ENSP00000215565 P17568 UPI000013C68C NM_004146.5 deleterious(0) probably_damaging(0.996) 3/3 PDB-ENSP_mappings:5xtc.v,PDB-ENSP_mappings:5xtd.v,PDB-ENSP_mappings:5xth.v,PDB-ENSP_mappings:5xti.Bv,PDB-ENSP_mappings:5xti.v,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51808,hmmpanther:PTHR20900,Pfam_domain:PF05676 MODERATE 1 SNV 1 PASS ATA . . 14566263 ZNF607 . GRCh38 chr19 37709728 37709728 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.104T>G p.Met35Arg p.M35R ENST00000355202 3/5 69 62 7 27 26 0 ZNF607,missense_variant,p.Met35Arg,ENST00000355202,NM_032689.4;ZNF607,missense_variant,p.Met35Arg,ENST00000395835,NM_001172677.1;ZNF607,missense_variant,p.Met35Arg,ENST00000591664,;ZNF607,intron_variant,,ENST00000590670,;ZNF607,missense_variant,p.Met35Arg,ENST00000586559,;AC093227.2,missense_variant,p.Met35Arg,ENST00000586606,;AC093227.2,intron_variant,,ENST00000585547,;AC093227.2,intron_variant,,ENST00000591114,; C ENSG00000198182 ENST00000355202 Transcript missense_variant 700/4364 104/2091 35/696 M/R aTg/aGg 1 -1 ZNF607 HGNC HGNC:28192 protein_coding YES CCDS33006.1 ENSP00000347338 Q96SK3 UPI000040BC07 NM_032689.4 deleterious(0) possibly_damaging(0.591) 3/5 PROSITE_profiles:PS50805,cd07765,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:SSF109640 MODERATE 1 SNV 2 PASS CAT . . 37709728 AC011445.1 . GRCh38 chr19 39320795 39320795 + Splice_Region SNP A A C novel 7316-397 BS_MN13H3T4 A A n.64T>G ENST00000601911 1/4 56 37 12 29 27 1 AC011445.1,splice_region_variant,,ENST00000601911,;,regulatory_region_variant,,ENSR00000109409,; C ENSG00000268262 ENST00000601911 Transcript splice_region_variant,non_coding_transcript_exon_variant 64/877 1 -1 AC011445.1 Clone_based_ensembl_gene sense_overlapping YES 1/4 LOW 1 SNV 1 PASS CAG . . 39320795 MAP3K10 . GRCh38 chr19 40192033 40192033 + Translation_Start_Site SNP T T G novel 7316-397 BS_MN13H3T4 T T c.2T>G p.Met1? p.M1? ENST00000253055 1/10 79 51 19 16 16 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; G ENSG00000130758 ENST00000253055 Transcript start_lost 290/3436 2/2865 1/954 M/R aTg/aGg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS ATG . . 40192033 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 84 56 25 37 35 2 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 SNRNP70 . GRCh38 chr19 49108266 49108266 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.1137A>C p.Lys379Asn p.K379N ENST00000598441 10/10 93 80 10 33 30 0 SNRNP70,missense_variant,p.Lys370Asn,ENST00000221448,NM_001301069.1;SNRNP70,missense_variant,p.Lys379Asn,ENST00000598441,NM_003089.5;SNRNP70,3_prime_UTR_variant,,ENST00000401730,;SNRNP70,3_prime_UTR_variant,,ENST00000601065,;SNRNP70,3_prime_UTR_variant,,ENST00000595231,;SNRNP70,non_coding_transcript_exon_variant,,ENST00000544278,; C ENSG00000104852 ENST00000598441 Transcript missense_variant 1361/1574 1137/1314 379/437 K/N aaA/aaC 1 1 SNRNP70 HGNC HGNC:11150 protein_coding YES CCDS12756.1 ENSP00000472998 P08621 A0A024QZD5 UPI00001352E4 NM_003089.5 deleterious_low_confidence(0.01) benign(0.039) 10/10 hmmpanther:PTHR13952,hmmpanther:PTHR13952:SF5,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 49108266 KCNC3 . GRCh38 chr19 50323140 50323140 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1813A>C p.Met605Leu p.M605L ENST00000477616 2/5 73 51 9 23 23 0 KCNC3,missense_variant,p.Met605Leu,ENST00000376959,;KCNC3,missense_variant,p.Met605Leu,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000474951,; G ENSG00000131398 ENST00000477616 Transcript missense_variant 2108/3176 1813/2274 605/757 M/L Atg/Ctg 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 tolerated_low_confidence(0.59) benign(0) 2/5 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF184,mobidb-lite MODERATE 1 SNV 1 1 PASS ATG . . 50323140 ZNF865 . GRCh38 chr19 55614006 55614006 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.388T>G p.Phe130Val p.F130V ENST00000568956 2/2 69 53 13 24 24 0 ZNF865,missense_variant,p.Phe130Val,ENST00000568956,NM_001195605.1;ZNF865,upstream_gene_variant,,ENST00000630143,;AC008735.4,upstream_gene_variant,,ENST00000614815,;,regulatory_region_variant,,ENSR00000111687,; G ENSG00000261221 ENST00000568956 Transcript missense_variant 742/4005 388/3180 130/1059 F/V Ttc/Gtc 1 1 ZNF865 HGNC HGNC:38705 protein_coding YES CCDS58681.1 ENSP00000457715 P0CJ78 UPI0000D6181D NM_001195605.1 tolerated_low_confidence(0.12) unknown(0) 2/2 hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF62,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CTT . . 55614006 GFRA4 . GRCh38 chr20 3661016 3661016 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.320T>G p.Phe107Cys p.F107C ENST00000319242 2/5 92 79 10 20 20 0 GFRA4,missense_variant,p.Phe107Cys,ENST00000290417,NM_022139.3;GFRA4,missense_variant,p.Phe107Cys,ENST00000319242,NM_145762.2;GFRA4,missense_variant,p.Phe107Cys,ENST00000477160,; C ENSG00000125861 ENST00000319242 Transcript missense_variant 320/900 320/900 107/299 F/C tTt/tGt 1 -1 GFRA4 HGNC HGNC:13821 protein_coding YES CCDS13056.1 ENSP00000313423 Q9GZZ7 UPI0000070328 NM_145762.2 deleterious(0) possibly_damaging(0.751) 2/5 hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF2 MODERATE 1 SNV 1 PASS AAA . . 3661016 CST3 . GRCh38 chr20 23637799 23637799 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.64A>C p.Ser22Arg p.S22R ENST00000398411 1/4 73 56 10 33 31 0 CST3,missense_variant,p.Ser22Arg,ENST00000398411,NM_001288614.1;CST3,missense_variant,p.Ser22Arg,ENST00000376925,NM_000099.3;CST3,missense_variant,p.Ser22Arg,ENST00000398409,;,regulatory_region_variant,,ENSR00000135699,; G ENSG00000101439 ENST00000398411 Transcript missense_variant 147/3286 64/441 22/146 S/R Agc/Cgc 1 -1 CST3 HGNC HGNC:2475 protein_coding YES CCDS13158.1 ENSP00000381448 P01034 A0A0K0K1J1 UPI000002B9AD NM_001288614.1 tolerated(0.23) benign(0.169) 1/4 hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF42,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTC . . 23637799 TM9SF4 . GRCh38 chr20 32157921 32157921 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.1457T>G p.Ile486Ser p.I486S ENST00000398022 14/18 83 67 14 31 31 0 TM9SF4,missense_variant,p.Ile469Ser,ENST00000217315,;TM9SF4,missense_variant,p.Ile486Ser,ENST00000398022,NM_014742.3;TM9SF4,upstream_gene_variant,,ENST00000479591,;TM9SF4,upstream_gene_variant,,ENST00000495749,; G ENSG00000101337 ENST00000398022 Transcript missense_variant 1692/3978 1457/1929 486/642 I/S aTt/aGt 1 1 TM9SF4 HGNC HGNC:30797 protein_coding YES CCDS13196.2 ENSP00000381104 Q92544 A0A024QYR3 UPI0000206163 NM_014742.3 deleterious(0) probably_damaging(1) 14/18 Pfam_domain:PF02990,hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF55 MODERATE 1 SNV 1 PASS ATT . . 32157921 BPIFB2 . GRCh38 chr20 33017097 33017097 + Nonsense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.572T>G p.Leu191Ter p.L191* ENST00000170150 7/16 95 80 9 30 29 0 BPIFB2,stop_gained,p.Leu191Ter,ENST00000170150,NM_025227.2; G ENSG00000078898 ENST00000170150 Transcript stop_gained 767/1898 572/1377 191/458 L/* tTa/tGa 1 1 BPIFB2 HGNC HGNC:16177 protein_coding YES CCDS13210.1 ENSP00000170150 Q8N4F0 UPI00000377B0 NM_025227.2 7/16 hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF92,Gene3D:3.15.20.10,PIRSF_domain:PIRSF002417,Superfamily_domains:SSF55394 HIGH 1 SNV 1 PASS TTA . . 33017097 RUNX1 . GRCh38 chr21 34792308 34792308 + Missense_Mutation SNP A A C novel 7316-397 BS_MN13H3T4 A A c.1270T>G p.Ser424Ala p.S424A ENST00000300305 8/8 55 34 8 21 20 0 RUNX1,missense_variant,p.Ser397Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Ser424Ala,ENST00000300305,;RUNX1,missense_variant,p.Ser424Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser333Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1715/6222 1270/1443 424/480 S/A Tcg/Gcg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) possibly_damaging(0.453) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS GAG . . 34792308 COL6A1 . GRCh38 chr21 45994236 45994236 + Splice_Region SNP A A C novel 7316-397 BS_MN13H3T4 A A c.1398+7A>C ENST00000361866 80 52 13 30 28 0 COL6A1,splice_region_variant,,ENST00000361866,NM_001848.2;COL6A1,splice_region_variant,,ENST00000612273,; C ENSG00000142156 ENST00000361866 Transcript splice_region_variant,intron_variant 1 1 COL6A1 HGNC HGNC:2211 protein_coding YES CCDS13727.1 ENSP00000355180 P12109 UPI000019B179 NM_001848.2 20/34 LOW 1 SNV 1 1 PASS AAG . . 45994236 CERK . GRCh38 chr22 46738147 46738147 + Translation_Start_Site SNP A A C novel 7316-397 BS_MN13H3T4 A A c.2T>G p.Met1? p.M1? ENST00000216264 1/13 68 54 10 43 40 1 CERK,start_lost,p.Met1?,ENST00000216264,NM_022766.5;CERK,upstream_gene_variant,,ENST00000460254,;CERK,start_lost,p.Met1?,ENST00000443629,;,regulatory_region_variant,,ENSR00000147452,; C ENSG00000100422 ENST00000216264 Transcript start_lost 115/4450 2/1614 1/537 M/R aTg/aGg 1 -1 CERK HGNC HGNC:19256 protein_coding YES CCDS14077.1 ENSP00000216264 Q8TCT0 A0A024R4U8 UPI000004BBBD NM_022766.5 deleterious_low_confidence(0) benign(0.005) 1/13 HIGH 1 SNV 1 PASS CAT . . 46738147 ARMCX4 . GRCh38 chrX 101490771 101490771 + Missense_Mutation SNP A A G novel 7316-397 BS_MN13H3T4 A A c.2182A>G p.Ile728Val p.I728V ENST00000423738 2/2 70 58 5 25 24 0 ARMCX4,missense_variant,p.Ile728Val,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; G ENSG00000196440 ENST00000423738 Transcript missense_variant 2384/7424 2182/6873 728/2290 I/V Atc/Gtc 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(1) benign(0) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS GAT . . 101490771 TEX13D . GRCh38 chrX 124334213 124334213 + Missense_Mutation SNP G G C rs1199315517 7316-397 BS_MN13H3T4 G G c.1296G>C p.Arg432Ser p.R432S ENST00000632372 1/1 72 61 8 26 26 0 TEX13D,missense_variant,p.Arg432Ser,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; C ENSG00000282419 ENST00000632372 Transcript missense_variant 1554/4203 1296/2145 432/714 R/S agG/agC rs1199315517 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.54) benign(0.011) 1/1 mobidb-lite MODERATE 1 SNV PASS GGT . . 124334213 NAA10 . GRCh38 chrX 153934891 153934891 + Missense_Mutation SNP T T G novel 7316-397 BS_MN13H3T4 T T c.14A>C p.Asn5Thr p.N5T ENST00000464845 1/8 94 78 12 32 29 0 NAA10,missense_variant,p.Asn5Thr,ENST00000464845,NM_003491.3,NM_001256120.1;NAA10,missense_variant,p.Asn5Thr,ENST00000370015,;NAA10,missense_variant,p.Asn5Thr,ENST00000393712,;NAA10,missense_variant,p.Asn5Thr,ENST00000370009,NM_001256119.1;NAA10,missense_variant,p.Asn5Thr,ENST00000432089,;NAA10,missense_variant,p.Asn5Thr,ENST00000370011,;RENBP,downstream_gene_variant,,ENST00000369997,;RENBP,downstream_gene_variant,,ENST00000393700,NM_002910.5;RENBP,downstream_gene_variant,,ENST00000451114,;NAA10,non_coding_transcript_exon_variant,,ENST00000393710,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494813,;NAA10,non_coding_transcript_exon_variant,,ENST00000466877,;NAA10,non_coding_transcript_exon_variant,,ENST00000477750,;NAA10,non_coding_transcript_exon_variant,,ENST00000478177,;NAA10,non_coding_transcript_exon_variant,,ENST00000488481,;RENBP,downstream_gene_variant,,ENST00000423624,;RENBP,downstream_gene_variant,,ENST00000442361,;RENBP,downstream_gene_variant,,ENST00000457282,;NAA10,upstream_gene_variant,,ENST00000460996,;NAA10,upstream_gene_variant,,ENST00000467451,;NAA10,upstream_gene_variant,,ENST00000477882,;NAA10,upstream_gene_variant,,ENST00000482485,;NAA10,upstream_gene_variant,,ENST00000484950,;,regulatory_region_variant,,ENSR00000249616,; G ENSG00000102030 ENST00000464845 Transcript missense_variant 333/1772 14/708 5/235 N/T aAt/aCt 1 -1 NAA10 HGNC HGNC:18704 protein_coding YES CCDS14737.1 ENSP00000417763 P41227 UPI0000125DBA NM_003491.3,NM_001256120.1 tolerated(0.41) benign(0.007) 1/8 PROSITE_profiles:PS51186,hmmpanther:PTHR23091:SF282,hmmpanther:PTHR23091,Gene3D:3.40.630.30,Superfamily_domains:SSF55729 MODERATE 1 SNV 1 1 PASS ATT . . 153934891 PIK3CD . GRCh38 chr1 9724279 9724279 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.2722T>G p.Phe908Val p.F908V ENST00000377346 22/24 63 49 10 35 34 0 PIK3CD,missense_variant,p.Phe932Val,ENST00000536656,;PIK3CD,missense_variant,p.Phe932Val,ENST00000628140,;PIK3CD,missense_variant,p.Phe908Val,ENST00000377346,NM_005026.3,NM_001350234.1;PIK3CD,missense_variant,p.Phe932Val,ENST00000361110,;PIK3CD,missense_variant,p.Phe932Val,ENST00000543390,;CLSTN1,downstream_gene_variant,,ENST00000361311,NM_014944.4;CLSTN1,downstream_gene_variant,,ENST00000377298,NM_001009566.2,NM_001302883.1;CLSTN1,downstream_gene_variant,,ENST00000435891,;CLSTN1,downstream_gene_variant,,ENST00000477264,; G ENSG00000171608 ENST00000377346 Transcript missense_variant 2917/5203 2722/3135 908/1044 F/V Ttc/Gtc 1 1 PIK3CD HGNC HGNC:8977 protein_coding YES CCDS104.1 ENSP00000366563 O00329 A0A2K8FKV1 UPI000013E807 NM_005026.3,NM_001350234.1 deleterious(0) probably_damaging(0.995) 22/24 PROSITE_profiles:PS50290,cd05174,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,Pfam_domain:PF00454,PIRSF_domain:PIRSF000587,SMART_domains:SM00146,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 1 PASS GTT . . 9724279 CRYBG2 . GRCh38 chr1 26343755 26343755 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.3875T>G p.Leu1292Arg p.L1292R ENST00000475866 4/22 56 46 6 39 39 0 CRYBG2,missense_variant,p.Leu1292Arg,ENST00000475866,;CRYBG2,missense_variant,p.Leu968Arg,ENST00000308182,NM_001039775.3;CRYBG2,missense_variant,p.Leu968Arg,ENST00000527815,;CRYBG2,upstream_gene_variant,,ENST00000429942,;CRYBG2,downstream_gene_variant,,ENST00000640960,;CRYBG2,missense_variant,p.Leu313Arg,ENST00000374207,; C ENSG00000176092 ENST00000475866 Transcript missense_variant 3906/6259 3875/5958 1292/1985 L/R cTg/cGg 1 -1 CRYBG2 HGNC HGNC:17295 protein_coding YES ENSP00000428746 E7ET48 UPI000D18D1C8 tolerated_low_confidence(0.24) benign(0.015) 4/22 hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF50 MODERATE 1 SNV 4 PASS CAG . . 26343755 POU3F1 . GRCh38 chr1 38046469 38046469 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.275A>C p.His92Pro p.H92P ENST00000373012 1/1 40 29 5 39 39 0 POU3F1,missense_variant,p.His92Pro,ENST00000373012,NM_002699.3;AL139158.2,upstream_gene_variant,,ENST00000428151,;AL139158.2,upstream_gene_variant,,ENST00000432922,;,regulatory_region_variant,,ENSR00000004926,; G ENSG00000185668 ENST00000373012 Transcript missense_variant 326/2184 275/1356 92/451 H/P cAc/cCc 1 -1 POU3F1 HGNC HGNC:9214 protein_coding YES CCDS30679.1 ENSP00000362103 Q03052 UPI00001606D2 NM_002699.3 tolerated_low_confidence(0.36) benign(0.022) 1/1 PIRSF_domain:PIRSF002629,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF75,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS GTG . . 38046469 YBX1 . GRCh38 chr1 42682641 42682641 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.76A>C p.Lys26Gln p.K26Q ENST00000321358 1/8 47 30 9 40 38 1 YBX1,missense_variant,p.Lys26Gln,ENST00000321358,NM_004559.4;YBX1,missense_variant,p.Lys26Gln,ENST00000332220,;YBX1,upstream_gene_variant,,ENST00000436427,;AC098484.2,downstream_gene_variant,,ENST00000414339,;YBX1,upstream_gene_variant,,ENST00000467957,;,regulatory_region_variant,,ENSR00000005492,; C ENSG00000065978 ENST00000321358 Transcript missense_variant 215/1514 76/975 26/324 K/Q Aag/Cag 1 1 YBX1 HGNC HGNC:8014 protein_coding YES CCDS470.1 ENSP00000361626 P67809 UPI0000001C6B NM_004559.4 tolerated(0.07) benign(0) 1/8 hmmpanther:PTHR11544,hmmpanther:PTHR11544:SF68,mobidb-lite MODERATE 1 SNV 1 PASS CAA . . 42682641 RAB3B . GRCh38 chr1 51990550 51990550 + Splice_Site SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.-1+2T>G ENST00000371655 56 42 10 40 39 0 RAB3B,splice_donor_variant,,ENST00000371655,NM_002867.3;,regulatory_region_variant,,ENSR00000006355,; C ENSG00000169213 ENST00000371655 Transcript splice_donor_variant 1 -1 RAB3B HGNC HGNC:9778 protein_coding YES CCDS560.1 ENSP00000360718 P20337 UPI000007097C NM_002867.3 1/4 HIGH 1 SNV 1 PASS TAC . . 51990550 LRRC7 . GRCh38 chr1 69568641 69568641 + Translation_Start_Site SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.2T>G p.Met1? p.M1? ENST00000370958 1/8 69 51 11 31 31 0 LRRC7,start_lost,p.Met1?,ENST00000370958,;LRRC7,splice_region_variant,,ENST00000310961,NM_001350216.1; G ENSG00000033122 ENST00000370958 Transcript start_lost,splice_region_variant 192/2375 2/654 1/217 M/R aTg/aGg 1 1 LRRC7 HGNC HGNC:18531 protein_coding ENSP00000359997 B1AKT2 UPI000018DB0D deleterious_low_confidence(0.03) benign(0.006) 1/8 HIGH 1 SNV 1 PASS ATG . . 69568641 NBPF9 . GRCh38 chr1 149077225 149077225 + Missense_Mutation SNP G G A rs1276785919 7316-2174 BS_SWHT4TC3 G G c.761C>T p.Ala254Val p.A254V ENST00000615421 10/29 44 36 7 35 35 0 NBPF9,missense_variant,p.Ala254Val,ENST00000615421,;NBPF9,missense_variant,p.Ala254Val,ENST00000621645,;NBPF9,missense_variant,p.Ala254Val,ENST00000584027,NM_001277444.1;NBPF9,missense_variant,p.Ala254Val,ENST00000613969,;NBPF9,missense_variant,p.Ala254Val,ENST00000613595,NM_001037675.3;NBPF9,missense_variant,p.Ala254Val,ENST00000621074,;NBPF9,missense_variant,p.Ala254Val,ENST00000610300,;NBPF9,upstream_gene_variant,,ENST00000483630,; A ENSG00000269713 ENST00000615421 Transcript missense_variant 1631/5835 761/3336 254/1111 A/V gCt/gTt rs1276785919 1 -1 NBPF9 HGNC HGNC:31991 protein_coding YES CCDS72896.1 ENSP00000477979 P0DPF3 UPI000292EE30 tolerated(0.06) benign(0.205) 10/29 PROSITE_profiles:PS51316,hmmpanther:PTHR14199:SF28,hmmpanther:PTHR14199 MODERATE 1 SNV 5 PASS AGC . . 0.134 0.02707 0.07219 0.1146 0.04588 0.3561 0.1517 0.08757 0.05271 149077225 SNX27 . GRCh38 chr1 151612299 151612299 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.98A>C p.Asn33Thr p.N33T ENST00000458013 1/12 71 55 14 52 52 0 SNX27,missense_variant,p.Asn33Thr,ENST00000368843,NM_030918.5;SNX27,missense_variant,p.Asn33Thr,ENST00000458013,NM_001330723.1;SNX27,missense_variant,p.Asn33Thr,ENST00000642376,;AL391335.1,non_coding_transcript_exon_variant,,ENST00000504583,;SNX27,upstream_gene_variant,,ENST00000642582,;SNX27,upstream_gene_variant,,ENST00000644970,;SNX27,missense_variant,p.Asn33Thr,ENST00000368841,;SNX27,missense_variant,p.Asn33Thr,ENST00000642479,;SNX27,upstream_gene_variant,,ENST00000642349,;SNX27,upstream_gene_variant,,ENST00000643179,;SNX27,upstream_gene_variant,,ENST00000643814,;,regulatory_region_variant,,ENSR00000013644,; C ENSG00000143376 ENST00000458013 Transcript missense_variant 218/6403 98/1626 33/541 N/T aAc/aCc 1 1 SNX27 HGNC HGNC:20073 protein_coding YES CCDS81377.1 ENSP00000400333 Q96L92 UPI000004EDFB NM_001330723.1 tolerated_low_confidence(0.62) benign(0) 1/12 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:2.30.42.10 MODERATE SNV 5 PASS AAC . . 151612299 TCHH . GRCh38 chr1 152110359 152110359 + Missense_Mutation SNP C C A rs1178021340 7316-2174 BS_SWHT4TC3 C C c.2858G>T p.Arg953Leu p.R953L ENST00000614923 3/3 34 27 5 41 39 0 TCHH,missense_variant,p.Arg953Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg953Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 2953/6995 2858/5832 953/1943 R/L cGc/cTc rs1178021340,COSM4779461 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 deleterious_low_confidence(0) benign(0.035) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCG . . 152110359 IVL . GRCh38 chr1 152911077 152911077 + Missense_Mutation SNP T T A novel 7316-2174 BS_SWHT4TC3 T T c.1280T>A p.Val427Glu p.V427E ENST00000368764 2/2 47 37 7 53 50 0 IVL,missense_variant,p.Val427Glu,ENST00000368764,NM_005547.2; A ENSG00000163207 ENST00000368764 Transcript missense_variant 1344/2153 1280/1758 427/585 V/E gTg/gAg 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated_low_confidence(1) benign(0.003) 2/2 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00904,mobidb-lite MODERATE 1 SNV 2 PASS GTG . . 152911077 PXDN . GRCh38 chr2 1648911 1648911 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.2869A>C p.Thr957Pro p.T957P ENST00000252804 17/23 61 51 8 41 39 1 PXDN,missense_variant,p.Thr957Pro,ENST00000252804,NM_012293.2;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,; G ENSG00000130508 ENST00000252804 Transcript missense_variant 2920/6808 2869/4440 957/1479 T/P Acg/Ccg 1 -1 PXDN HGNC HGNC:14966 protein_coding YES CCDS46221.1 ENSP00000252804 Q92626 UPI00001C1DC2 NM_012293.2 deleterious(0.03) benign(0.25) 17/23 cd09826,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF75 MODERATE 1 SNV 1 1 PASS GTG . . 1648911 POU3F3 . GRCh38 chr2 104856069 104856069 + Missense_Mutation SNP T T G rs933481907 7316-2174 BS_SWHT4TC3 T T c.559T>G p.Trp187Gly p.W187G ENST00000361360 1/1 39 22 9 41 37 1 POU3F3,missense_variant,p.Trp187Gly,ENST00000361360,NM_006236.2;LINC01158,upstream_gene_variant,,ENST00000413121,;AC018730.2,intron_variant,,ENST00000598623,;LINC01158,upstream_gene_variant,,ENST00000443988,;LINC01158,upstream_gene_variant,,ENST00000447876,;LINC01158,upstream_gene_variant,,ENST00000454729,;LINC01158,upstream_gene_variant,,ENST00000458253,;,regulatory_region_variant,,ENSR00000121121,; G ENSG00000198914 ENST00000361360 Transcript missense_variant 559/3064 559/1503 187/500 W/G Tgg/Ggg rs933481907,COSM5038149 1 1 POU3F3 HGNC HGNC:9216 protein_coding YES CCDS33265.1 ENSP00000355001 P20264 UPI0000131D87 NM_006236.2 deleterious_low_confidence(0) possibly_damaging(0.901) 1/1 Low_complexity_(Seg):seg,mobidb-lite,PIRSF_domain:PIRSF002629,hmmpanther:PTHR11636:SF117,hmmpanther:PTHR11636 0,1 MODERATE SNV 0,1 PASS CTG . . 104856069 SP5 . GRCh38 chr2 170716772 170716772 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.565T>G p.Trp189Gly p.W189G ENST00000375281 2/2 70 51 10 28 28 0 SP5,missense_variant,p.Trp189Gly,ENST00000375281,NM_001003845.2;LINC01124,upstream_gene_variant,,ENST00000409786,;SP5,downstream_gene_variant,,ENST00000487037,;,regulatory_region_variant,,ENSR00000126115,; G ENSG00000204335 ENST00000375281 Transcript missense_variant 727/2033 565/1197 189/398 W/G Tgg/Ggg 1 1 SP5 HGNC HGNC:14529 protein_coding YES CCDS33322.1 ENSP00000364430 Q6BEB4 UPI000015C8D6 NM_001003845.2 deleterious(0) benign(0.302) 2/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF29,mobidb-lite MODERATE 1 SNV 1 PASS GTG . . 170716772 RNF25 . GRCh38 chr2 218664141 218664141 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.1196A>C p.Gln399Pro p.Q399P ENST00000295704 10/10 54 36 9 38 37 0 RNF25,missense_variant,p.Gln399Pro,ENST00000295704,NM_022453.2;BCS1L,downstream_gene_variant,,ENST00000359273,NM_001079866.1,NM_001257344.1,NM_001318836.1;BCS1L,downstream_gene_variant,,ENST00000392109,NM_004328.4,NM_001257343.1;BCS1L,downstream_gene_variant,,ENST00000392110,NM_001257342.1;BCS1L,downstream_gene_variant,,ENST00000392111,;ZNF142,upstream_gene_variant,,ENST00000411696,;BCS1L,downstream_gene_variant,,ENST00000412366,;BCS1L,downstream_gene_variant,,ENST00000423377,;BCS1L,downstream_gene_variant,,ENST00000426649,;BCS1L,downstream_gene_variant,,ENST00000428880,;BCS1L,downstream_gene_variant,,ENST00000430322,;BCS1L,downstream_gene_variant,,ENST00000431802,;ZNF142,upstream_gene_variant,,ENST00000432460,;BCS1L,downstream_gene_variant,,ENST00000436603,;BCS1L,downstream_gene_variant,,ENST00000439945,NM_001320717.1;BCS1L,downstream_gene_variant,,ENST00000443791,;ZNF142,upstream_gene_variant,,ENST00000449707,NM_001105537.2;ZNF142,upstream_gene_variant,,ENST00000450560,;BCS1L,downstream_gene_variant,,ENST00000456050,;BCS1L,downstream_gene_variant,,ENST00000643945,;BCS1L,downstream_gene_variant,,ENST00000465706,;RNF25,non_coding_transcript_exon_variant,,ENST00000473034,;RNF25,downstream_gene_variant,,ENST00000423170,;ZNF142,upstream_gene_variant,,ENST00000433921,;ZNF142,upstream_gene_variant,,ENST00000450765,;BCS1L,downstream_gene_variant,,ENST00000460579,;RNF25,downstream_gene_variant,,ENST00000463188,;BCS1L,downstream_gene_variant,,ENST00000471576,;RNF25,downstream_gene_variant,,ENST00000474339,;BCS1L,downstream_gene_variant,,ENST00000477422,;BCS1L,downstream_gene_variant,,ENST00000490188,;BCS1L,downstream_gene_variant,,ENST00000493376,;RNF25,downstream_gene_variant,,ENST00000497832,; G ENSG00000163481 ENST00000295704 Transcript missense_variant 1637/1914 1196/1380 399/459 Q/P cAa/cCa 1 -1 RNF25 HGNC HGNC:14662 protein_coding YES CCDS2420.1 ENSP00000295704 Q96BH1 UPI000013431F NM_022453.2 tolerated(0.13) benign(0.001) 10/10 mobidb-lite,hmmpanther:PTHR13198 MODERATE 1 SNV 1 PASS TTG . . 218664141 CROCC2 . GRCh38 chr2 240966299 240966299 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.4042T>G p.Trp1348Gly p.W1348G ENST00000443866 25/32 58 48 9 31 31 0 CROCC2,missense_variant,p.Trp1348Gly,ENST00000443866,NM_001351305.1;AC104809.2,intron_variant,,ENST00000418218,;,regulatory_region_variant,,ENSR00000133207,; G ENSG00000226321 ENST00000443866 Transcript missense_variant 4226/5382 4042/4968 1348/1655 W/G Tgg/Ggg 1 1 CROCC2 HGNC HGNC:51677 protein_coding YES ENSP00000397968 H7BZ55 UPI0004F2364A NM_001351305.1 tolerated(0.52) benign(0.007) 25/32 mobidb-lite,hmmpanther:PTHR23159:SF16,hmmpanther:PTHR23159,Gene3D:1.20.140.50 MODERATE SNV 5 PASS ATG . . 240966299 ANO7 . GRCh38 chr2 241209535 241209535 + Missense_Mutation SNP T T G rs766130793 7316-2174 BS_SWHT4TC3 T T c.1421T>G p.Met474Arg p.M474R ENST00000274979 13/25 53 45 8 37 37 0 ANO7,missense_variant,p.Met474Arg,ENST00000274979,NM_001001891.3;ANO7,missense_variant,p.Met473Arg,ENST00000402430,;ANO7,upstream_gene_variant,,ENST00000471606,; G ENSG00000146205 ENST00000274979 Transcript missense_variant 1524/4128 1421/2802 474/933 M/R aTg/aGg rs766130793 1 1 ANO7 HGNC HGNC:31677 protein_coding YES CCDS33423.1 ENSP00000274979 Q6IWH7 UPI0000D612DB NM_001001891.3 tolerated(0.54) benign(0.079) 13/25 Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF22 MODERATE 1 SNV 1 PASS ATG . . 4.348e-06 3.489e-05 241209535 CADPS . GRCh38 chr3 62874887 62874887 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.143T>G p.Leu48Arg p.L48R ENST00000383710 1/30 35 26 8 33 33 0 CADPS,missense_variant,p.Leu48Arg,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Leu48Arg,ENST00000612439,;CADPS,missense_variant,p.Leu48Arg,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Leu48Arg,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Leu48Arg,ENST00000490353,;,regulatory_region_variant,,ENSR00000304356,; C ENSG00000163618 ENST00000383710 Transcript missense_variant 493/5471 143/4062 48/1353 L/R cTg/cGg 1 -1 CADPS HGNC HGNC:1426 protein_coding YES CCDS46858.1 ENSP00000373215 Q9ULU8 UPI00001C036A NM_003716.3 tolerated(0.08) benign(0.043) 1/30 hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF6,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 62874887 RUVBL1 . GRCh38 chr3 128123594 128123594 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.131A>C p.Asn44Thr p.N44T ENST00000322623 1/11 55 37 15 35 35 0 RUVBL1,missense_variant,p.Asn44Thr,ENST00000322623,NM_003707.2,NM_001319084.1;RUVBL1,intron_variant,,ENST00000464873,NM_001319086.1;,regulatory_region_variant,,ENSR00000158057,; G ENSG00000175792 ENST00000322623 Transcript missense_variant 231/1761 131/1371 44/456 N/T aAc/aCc 1 -1 RUVBL1 HGNC HGNC:10474 protein_coding YES CCDS3047.1 ENSP00000318297 Q9Y265 UPI0000044739 NM_003707.2,NM_001319084.1 tolerated(0.35) benign(0) 1/11 cd00009,hmmpanther:PTHR11093:SF6,hmmpanther:PTHR11093,Pfam_domain:PF06068,Gene3D:3.40.50.300,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS GTT . . 128123594 HES1 . GRCh38 chr3 194137931 194137931 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.541T>G p.Phe181Val p.F181V ENST00000232424 4/4 70 55 12 48 47 1 HES1,missense_variant,p.Phe181Val,ENST00000232424,NM_005524.3;HES1,downstream_gene_variant,,ENST00000476918,;,regulatory_region_variant,,ENSR00000308156,; G ENSG00000114315 ENST00000232424 Transcript missense_variant 777/1578 541/843 181/280 F/V Ttc/Gtc 1 1 HES1 HGNC HGNC:5192 protein_coding YES CCDS3305.1 ENSP00000232424 Q14469 UPI0000037B01 NM_005524.3 tolerated(0.49) benign(0.026) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10985:SF125,hmmpanther:PTHR10985 MODERATE 1 SNV 1 PASS GTT . . 194137931 MUC4 . GRCh38 chr3 195782770 195782770 + Missense_Mutation SNP A A C 7316-2174 BS_SWHT4TC3 A A c.8810T>G p.Val2937Gly p.V2937G ENST00000463781 2/25 60 40 8 50 42 0 MUC4,missense_variant,p.Val2937Gly,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Val2937Gly,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Val2937Gly,ENST00000478156,;MUC4,missense_variant,p.Val2937Gly,ENST00000466475,;MUC4,missense_variant,p.Val2937Gly,ENST00000477756,;MUC4,missense_variant,p.Val2937Gly,ENST00000477086,;MUC4,missense_variant,p.Val2937Gly,ENST00000480843,;MUC4,missense_variant,p.Val2937Gly,ENST00000462323,;MUC4,missense_variant,p.Val2937Gly,ENST00000470451,;MUC4,missense_variant,p.Val2937Gly,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 9270/17110 8810/16239 2937/5412 V/G gTa/gGa COSM4157670 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0) benign(0.316) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS TAC . . 195782770 ATP5ME . GRCh38 chr4 673945 673945 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.58T>G p.Phe20Val p.F20V ENST00000304312 2/4 55 41 12 36 35 0 ATP5ME,missense_variant,p.Phe20Val,ENST00000304312,NM_007100.3;MYL5,5_prime_UTR_variant,,ENST00000506838,;MYL5,5_prime_UTR_variant,,ENST00000505477,;PDE6B,downstream_gene_variant,,ENST00000255622,NM_001145291.1;MYL5,upstream_gene_variant,,ENST00000400159,NM_002477.1;PDE6B,downstream_gene_variant,,ENST00000429163,NM_001145292.1;PDE6B,downstream_gene_variant,,ENST00000461490,;PDE6B,downstream_gene_variant,,ENST00000471824,;PDE6B,downstream_gene_variant,,ENST00000496514,NM_000283.3;MYL5,upstream_gene_variant,,ENST00000507804,;MYL5,upstream_gene_variant,,ENST00000511290,;ATP5ME,intron_variant,,ENST00000505852,;ATP5ME,upstream_gene_variant,,ENST00000506525,;ATP5ME,non_coding_transcript_exon_variant,,ENST00000515202,;MYL5,upstream_gene_variant,,ENST00000502720,;MYL5,upstream_gene_variant,,ENST00000503300,;MYL5,upstream_gene_variant,,ENST00000513662,;ATP5ME,upstream_gene_variant,,ENST00000515116,;,regulatory_region_variant,,ENSR00000164687,; C ENSG00000169020 ENST00000304312 Transcript missense_variant 149/365 58/210 20/69 F/V Ttc/Gtc 1 -1 ATP5ME HGNC HGNC:846 protein_coding YES CCDS3337.1 ENSP00000306003 P56385 UPI000013E960 NM_007100.3 tolerated(0.39) benign(0.003) 2/4 Pfam_domain:PF05680,hmmpanther:PTHR12427 MODERATE 1 SNV 1 PASS AAC . . 673945 COQ2 . GRCh38 chr4 83284514 83284514 + Missense_Mutation SNP A A C rs779491618 7316-2174 BS_SWHT4TC3 A A c.401T>G p.Ile134Ser p.I134S ENST00000311469 1/7 53 42 8 47 46 1 COQ2,missense_variant,p.Ile84Ser,ENST00000647002,NM_001358921.1;COQ2,missense_variant,p.Ile134Ser,ENST00000311469,NM_015697.7;COQ2,missense_variant,p.Ile84Ser,ENST00000311461,;COQ2,upstream_gene_variant,,ENST00000514935,;COQ2,missense_variant,p.Ile84Ser,ENST00000503391,;,regulatory_region_variant,,ENSR00000170095,; C ENSG00000173085 ENST00000311469 Transcript missense_variant,splice_region_variant 401/1639 401/1266 134/421 I/S aTt/aGt rs779491618 1 -1 COQ2 HGNC HGNC:25223 protein_coding YES CCDS47090.2 ENSP00000310873 Q96H96 UPI0000D6158E NM_015697.7 deleterious(0) benign(0.26) 1/7 HAMAP:MF_01635,cd13959,hmmpanther:PTHR11048:SF28,hmmpanther:PTHR11048,TIGRFAM_domain:TIGR01474 MODERATE 1 SNV 1 1 PASS AAT . . 1.17e-05 1.423e-05 0.0002459 83284514 PRSS12 . GRCh38 chr4 118352528 118352528 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.193T>G p.Phe65Val p.F65V ENST00000296498 1/13 53 41 11 46 46 0 PRSS12,missense_variant,p.Phe65Val,ENST00000296498,NM_003619.3;,regulatory_region_variant,,ENSR00000172341,; C ENSG00000164099 ENST00000296498 Transcript missense_variant 476/4809 193/2628 65/875 F/V Ttc/Gtc 1 -1 PRSS12 HGNC HGNC:9477 protein_coding YES CCDS3709.1 ENSP00000296498 P56730 UPI000013E34B NM_003619.3 tolerated_low_confidence(1) benign(0) 1/13 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAG . . 118352528 SOX4 . GRCh38 chr6 21594970 21594970 + Missense_Mutation SNP G G T 7316-2174 BS_SWHT4TC3 G G c.436G>T p.Ala146Ser p.A146S ENST00000244745 1/1 59 48 7 37 36 0 SOX4,missense_variant,p.Ala146Ser,ENST00000244745,NM_003107.2;AL512380.2,intron_variant,,ENST00000637901,;,regulatory_region_variant,,ENSR00000194547,;,TF_binding_site_variant,,MA0162.2,; T ENSG00000124766 ENST00000244745 Transcript missense_variant 2203/5852 436/1425 146/474 A/S Gcc/Tcc COSM6787501 1 1 SOX4 HGNC HGNC:11200 protein_coding YES CCDS4547.1 ENSP00000244745 Q06945 UPI0000047FA0 NM_003107.2 tolerated(1) benign(0.049) 1/1 Gene3D:1.10.30.10,PIRSF_domain:PIRSF038098,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF27,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE SNV 1 PASS CGC . . 21594970 FRS3 . GRCh38 chr6 41770771 41770771 + Missense_Mutation SNP T T G rs1302624769 7316-2174 BS_SWHT4TC3 T T c.1327A>C p.Met443Leu p.M443L ENST00000373018 7/7 62 48 9 30 26 0 FRS3,missense_variant,p.Met443Leu,ENST00000373018,NM_006653.4;FRS3,missense_variant,p.Met443Leu,ENST00000259748,;FRS3,downstream_gene_variant,,ENST00000422888,;FRS3,downstream_gene_variant,,ENST00000426290,; G ENSG00000137218 ENST00000373018 Transcript missense_variant 1579/2174 1327/1479 443/492 M/L Atg/Ctg rs1302624769 1 -1 FRS3 HGNC HGNC:16970 protein_coding YES CCDS4860.1 ENSP00000362109 O43559 A0A140VJJ7 UPI0000073ACA NM_006653.4 tolerated(0.55) benign(0) 7/7 mobidb-lite,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF39 MODERATE 1 SNV 3 PASS ATG . . 41770771 ENPP1 . GRCh38 chr6 131808115 131808115 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.80A>C p.Asn27Thr p.N27T ENST00000360971 1/25 44 32 12 43 43 0 ENPP1,missense_variant,p.Asn27Thr,ENST00000360971,NM_006208.2;ENPP1,missense_variant,p.Asn27Thr,ENST00000513998,;ENPP1,non_coding_transcript_exon_variant,,ENST00000486853,;,regulatory_region_variant,,ENSR00000202872,; C ENSG00000197594 ENST00000360971 Transcript missense_variant 100/7442 80/2778 27/925 N/T aAc/aCc 1 1 ENPP1 HGNC HGNC:3356 protein_coding YES CCDS5150.2 ENSP00000354238 P22413 UPI00001303F0 NM_006208.2 deleterious_low_confidence(0.05) benign(0) 1/25 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 131808115 ARID1B . GRCh38 chr6 156778579 156778579 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.650T>G p.Val217Gly p.V217G ENST00000346085 1/20 44 31 11 38 37 0 ARID1B,missense_variant,p.Val217Gly,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Val217Gly,ENST00000636930,;ARID1B,missense_variant,p.Val217Gly,ENST00000350026,NM_017519.2;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000604082,;MIR4466,downstream_gene_variant,,ENST00000606121,;AL355297.4,upstream_gene_variant,,ENST00000603191,;AL355297.2,downstream_gene_variant,,ENST00000604792,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,;,TF_binding_site_variant,,PB0010.1,; G ENSG00000049618 ENST00000346085 Transcript missense_variant 1206/10194 650/6750 217/2249 V/G gTg/gGg 1 1 ARID1B HGNC HGNC:18040 protein_coding YES CCDS55072.1 ENSP00000344546 Q8NFD5 UPI000058E4B2 NM_020732.3 tolerated_low_confidence(0.51) benign(0.003) 1/20 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:3.40.50.1980 MODERATE 1 SNV 1 1 PASS GTG . . 156778579 PRR18 . GRCh38 chr6 166307481 166307481 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.662T>G p.Val221Gly p.V221G ENST00000322583 1/1 54 43 10 45 44 0 PRR18,missense_variant,p.Val221Gly,ENST00000322583,NM_175922.3;PRR18,downstream_gene_variant,,ENST00000529616,; C ENSG00000176381 ENST00000322583 Transcript missense_variant 903/3084 662/888 221/295 V/G gTt/gGt 1 -1 PRR18 HGNC HGNC:28574 protein_coding YES CCDS5291.1 ENSP00000319590 Q8N4B5 UPI0000140E82 NM_175922.3 tolerated_low_confidence(0.36) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR10994:SF127,hmmpanther:PTHR10994,Pfam_domain:PF15671 MODERATE 1 SNV PASS AAC . . 166307481 GLCCI1 . GRCh38 chr7 7969472 7969472 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.122A>C p.Asn41Thr p.N41T ENST00000223145 1/8 43 34 9 25 25 0 GLCCI1,missense_variant,p.Asn41Thr,ENST00000223145,NM_138426.3;GLCCI1,upstream_gene_variant,,ENST00000414914,;GLCCI1,upstream_gene_variant,,ENST00000430798,;UMAD1,downstream_gene_variant,,ENST00000482067,;AC006042.2,intron_variant,,ENST00000428660,;AC007161.3,intron_variant,,ENST00000469183,;GLCCI1,upstream_gene_variant,,ENST00000470583,;GLCCI1,upstream_gene_variant,,ENST00000474269,;GLCCI1,upstream_gene_variant,,ENST00000460897,;GLCCI1,upstream_gene_variant,,ENST00000492797,;,regulatory_region_variant,,ENSR00000324743,; C ENSG00000106415 ENST00000223145 Transcript missense_variant 679/4743 122/1644 41/547 N/T aAc/aCc 1 1 GLCCI1 HGNC HGNC:18713 protein_coding YES CCDS34601.1 ENSP00000223145 Q86VQ1 UPI00001907F7 NM_138426.3 deleterious_low_confidence(0.02) benign(0.005) 1/8 hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 7969472 MUC17 . GRCh38 chr7 101034198 101034198 + Missense_Mutation SNP A A C rs1469293599 7316-2174 BS_SWHT4TC3 A A c.2782A>C p.Ser928Arg p.S928R ENST00000306151 3/13 49 39 8 43 39 1 MUC17,missense_variant,p.Ser928Arg,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser928Arg,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 2846/14247 2782/13482 928/4493 S/R Agt/Cgt rs1469293599 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.02) benign(0.177) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 101034198 MUC17 . GRCh38 chr7 101041333 101041333 + Missense_Mutation SNP C C T rs778418183 7316-2174 BS_SWHT4TC3 C C c.9917C>T p.Ala3306Val p.A3306V ENST00000306151 3/13 57 48 7 39 38 0 MUC17,missense_variant,p.Ala3306Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala3306Val,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 9981/14247 9917/13482 3306/4493 A/V gCt/gTt rs778418183 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.046) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCT . . 4.133e-06 9.029e-06 101041333 FAM71F1 . GRCh38 chr7 128730067 128730067 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.1019T>G p.Ile340Arg p.I340R ENST00000315184 6/7 40 32 8 36 35 0 FAM71F1,missense_variant,p.Ile340Arg,ENST00000315184,NM_001282788.1,NM_032599.3;FAM71F1,missense_variant,p.Ile239Arg,ENST00000621392,;FAM71F1,missense_variant,p.Ile239Arg,ENST00000485070,NM_001282789.1;FAM71F1,downstream_gene_variant,,ENST00000466842,;FAM71F1,splice_region_variant,,ENST00000484425,;FAM71F1,downstream_gene_variant,,ENST00000471558,; G ENSG00000135248 ENST00000315184 Transcript missense_variant,splice_region_variant 1072/1718 1019/1035 340/344 I/R aTa/aGa 1 1 FAM71F1 HGNC HGNC:30704 protein_coding YES CCDS5804.1 ENSP00000326652 Q96KD3 A0A140VJJ3 UPI000006D961 NM_001282788.1,NM_032599.3 deleterious_low_confidence(0) benign(0.157) 6/7 hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF13 MODERATE 1 SNV 1 PASS ATA . . 128730067 TMEM178B . GRCh38 chr7 141074626 141074626 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.316A>C p.Met106Leu p.M106L ENST00000565468 1/4 57 47 5 37 34 0 TMEM178B,missense_variant,p.Met106Leu,ENST00000565468,NM_001195278.1;TMEM178B,missense_variant,p.Met106Leu,ENST00000610315,;TMEM178B,non_coding_transcript_exon_variant,,ENST00000563442,; C ENSG00000261115 ENST00000565468 Transcript missense_variant 395/10558 316/885 106/294 M/L Atg/Ctg 1 1 TMEM178B HGNC HGNC:44112 protein_coding YES CCDS59086.1 ENSP00000456594 H3BS89 UPI0000E217DE NM_001195278.1 tolerated(0.17) benign(0.001) 1/4 Pfam_domain:PF13903,hmmpanther:PTHR32005,hmmpanther:PTHR32005:SF1 MODERATE 1 SNV 5 PASS CAT . . 141074626 PRSS1 . GRCh38 chr7 142749531 142749531 + Splice_Region SNP A A T rs796173487 7316-2174 BS_SWHT4TC3 A A c.40+7A>T ENST00000311737 68 48 18 41 38 2 PRSS1,splice_region_variant,,ENST00000311737,NM_002769.4;PRSS1,splice_region_variant,,ENST00000486171,;PRSS1,splice_region_variant,,ENST00000619214,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,splice_region_variant,,ENST00000485223,;PRSS1,splice_region_variant,,ENST00000497041,;PRSS1,upstream_gene_variant,,ENST00000463701,; T ENSG00000204983 ENST00000311737 Transcript splice_region_variant,intron_variant rs796173487 1 1 PRSS1 HGNC HGNC:9475 protein_coding YES CCDS5872.1 ENSP00000308720 P07477 UPI0000001309 NM_002769.4 1/4 LOW 1 SNV 1 1 PASS TAT . . 142749531 ZNF517 . GRCh38 chr8 144808165 144808165 + Missense_Mutation SNP A A T novel 7316-2174 BS_SWHT4TC3 A A c.1249A>T p.Ile417Phe p.I417F ENST00000359971 5/5 66 56 6 37 37 0 ZNF517,missense_variant,p.Ile417Phe,ENST00000359971,NM_213605.2,NM_001317936.1;ZNF517,missense_variant,p.Ile417Phe,ENST00000531720,;ZNF517,missense_variant,p.Ile384Phe,ENST00000529429,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,downstream_gene_variant,,ENST00000528012,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,missense_variant,p.Ile417Phe,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,; T ENSG00000197363 ENST00000359971 Transcript missense_variant 1356/2335 1249/1479 417/492 I/F Atc/Ttc 1 1 ZNF517 HGNC HGNC:27984 protein_coding YES CCDS6434.1 ENSP00000353058 Q6ZMY9 UPI000045770F NM_213605.2,NM_001317936.1 deleterious(0.01) possibly_damaging(0.761) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.28.30,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS GAT . . 144808165 ZNF517 . GRCh38 chr8 144808175 144808175 + Missense_Mutation SNP A A G rs1172505351 7316-2174 BS_SWHT4TC3 A A c.1259A>G p.Lys420Arg p.K420R ENST00000359971 5/5 68 56 6 36 36 0 ZNF517,missense_variant,p.Lys420Arg,ENST00000359971,NM_213605.2,NM_001317936.1;ZNF517,missense_variant,p.Lys420Arg,ENST00000531720,;ZNF517,missense_variant,p.Lys387Arg,ENST00000529429,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,downstream_gene_variant,,ENST00000528012,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,missense_variant,p.Lys420Arg,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,; G ENSG00000197363 ENST00000359971 Transcript missense_variant 1366/2335 1259/1479 420/492 K/R aAg/aGg rs1172505351 1 1 ZNF517 HGNC HGNC:27984 protein_coding YES CCDS6434.1 ENSP00000353058 Q6ZMY9 UPI000045770F NM_213605.2,NM_001317936.1 deleterious(0.02) benign(0.017) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,Gene3D:2.20.28.30,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS AAG . . 144808175 CLTA . GRCh38 chr9 36191118 36191118 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.62A>C p.Asn21Thr p.N21T ENST00000242285 1/7 51 31 18 46 44 1 CLTA,missense_variant,p.Asn21Thr,ENST00000433436,;CLTA,missense_variant,p.Asn21Thr,ENST00000538225,;CLTA,missense_variant,p.Asn21Thr,ENST00000242285,NM_007096.3;CLTA,missense_variant,p.Asn21Thr,ENST00000470744,NM_001184760.1;CLTA,missense_variant,p.Asn21Thr,ENST00000396603,NM_001076677.2;CLTA,missense_variant,p.Asn21Thr,ENST00000345519,NM_001184761.1,NM_001311203.1,NM_001833.3;CLTA,missense_variant,p.Asn21Thr,ENST00000540080,NM_001311206.1,NM_001184762.1;CLTA,missense_variant,p.Asn21Thr,ENST00000466396,NM_001311205.1,NM_001311204.1;CLTA,missense_variant,p.Asn21Thr,ENST00000464497,;CLTA,upstream_gene_variant,,ENST00000493185,;,regulatory_region_variant,,ENSR00000234754,; C ENSG00000122705 ENST00000242285 Transcript missense_variant 182/1152 62/747 21/248 N/T aAc/aCc 1 1 CLTA HGNC HGNC:2090 protein_coding YES CCDS6601.1 ENSP00000242285 P09496 UPI0000127A9E NM_007096.3 tolerated(0.25) probably_damaging(0.992) 1/7 Pfam_domain:PF01086,hmmpanther:PTHR10639,hmmpanther:PTHR10639:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 36191118 DPH7 . GRCh38 chr9 137578629 137578629 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.149A>C p.Asn50Thr p.N50T ENST00000277540 1/9 71 52 15 32 31 1 DPH7,missense_variant,p.Asn50Thr,ENST00000277540,NM_138778.3;ZMYND19,downstream_gene_variant,,ENST00000298585,NM_138462.2;DPH7,non_coding_transcript_exon_variant,,ENST00000479650,;DPH7,non_coding_transcript_exon_variant,,ENST00000472113,;DPH7,non_coding_transcript_exon_variant,,ENST00000491359,;DPH7,non_coding_transcript_exon_variant,,ENST00000476303,;DPH7,non_coding_transcript_exon_variant,,ENST00000475100,;DPH7,non_coding_transcript_exon_variant,,ENST00000467768,;DPH7,non_coding_transcript_exon_variant,,ENST00000460572,;DPH7,upstream_gene_variant,,ENST00000470855,;DPH7,upstream_gene_variant,,ENST00000477690,;DPH7,upstream_gene_variant,,ENST00000481839,;DPH7,upstream_gene_variant,,ENST00000485189,;,regulatory_region_variant,,ENSR00000243232,; G ENSG00000148399 ENST00000277540 Transcript missense_variant 307/1847 149/1359 50/452 N/T aAc/aCc 1 -1 DPH7 HGNC HGNC:25199 protein_coding YES CCDS7047.1 ENSP00000277540 Q9BTV6 UPI000006F34E NM_138778.3 tolerated(0.43) benign(0) 1/9 hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF17 MODERATE 1 SNV 1 PASS GTT . . 137578629 MCMBP . GRCh38 chr10 119872545 119872545 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.40A>C p.Ile14Leu p.I14L ENST00000360003 1/16 46 33 9 38 36 0 MCMBP,missense_variant,p.Ile14Leu,ENST00000360003,NM_024834.3;MCMBP,missense_variant,p.Ile14Leu,ENST00000369077,NM_001256379.1,NM_001256378.1;MCMBP,intron_variant,,ENST00000466047,;MCMBP,intron_variant,,ENST00000569515,;,regulatory_region_variant,,ENSR00000034351,; G ENSG00000197771 ENST00000360003 Transcript missense_variant 210/4169 40/1929 14/642 I/L Atc/Ctc 1 -1 MCMBP HGNC HGNC:25782 protein_coding YES CCDS7617.1 ENSP00000353098 Q9BTE3 UPI0000070023 NM_024834.3 tolerated(0.06) benign(0.013) 1/16 hmmpanther:PTHR13489 MODERATE 1 SNV 2 PASS ATT . . 119872545 UTF1 . GRCh38 chr10 133230785 133230785 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.497A>C p.Gln166Pro p.Q166P ENST00000304477 1/2 76 63 11 42 41 0 UTF1,missense_variant,p.Gln166Pro,ENST00000304477,NM_003577.2;KNDC1,downstream_gene_variant,,ENST00000304613,NM_152643.6;,regulatory_region_variant,,ENSR00000035517,; C ENSG00000171794 ENST00000304477 Transcript missense_variant 512/1157 497/1026 166/341 Q/P cAg/cCg 1 1 UTF1 HGNC HGNC:12634 protein_coding YES CCDS31318.1 ENSP00000305906 Q5T230 UPI000013E984 NM_003577.2 tolerated_low_confidence(0.35) benign(0) 1/2 hmmpanther:PTHR21654,hmmpanther:PTHR21654:SF16,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 133230785 TRIM3 . GRCh38 chr11 6458075 6458075 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.353A>C p.His118Pro p.H118P ENST00000525074 3/12 57 46 10 42 42 0 TRIM3,start_lost,p.Met1?,ENST00000536344,NM_001248007.1;TRIM3,missense_variant,p.His118Pro,ENST00000525074,NM_001248006.1;TRIM3,missense_variant,p.His118Pro,ENST00000359518,NM_006458.3;TRIM3,missense_variant,p.His118Pro,ENST00000345851,NM_033278.3;TRIM3,missense_variant,p.His88Pro,ENST00000639856,;TRIM3,missense_variant,p.His118Pro,ENST00000528227,;TRIM3,downstream_gene_variant,,ENST00000529529,;TRIM3,non_coding_transcript_exon_variant,,ENST00000528932,;TRIM3,upstream_gene_variant,,ENST00000526845,;TRIM3,upstream_gene_variant,,ENST00000527237,;TRIM3,upstream_gene_variant,,ENST00000529058,;TRIM3,upstream_gene_variant,,ENST00000532542,; G ENSG00000110171 ENST00000525074 Transcript missense_variant 748/3044 353/2235 118/744 H/P cAt/cCt 1 -1 TRIM3 HGNC HGNC:10064 protein_coding YES CCDS7764.1 ENSP00000433102 O75382 UPI000013C8BA NM_001248006.1 deleterious(0.02) possibly_damaging(0.722) 3/12 Gene3D:3.30.40.10,Pfam_domain:PF00643,PROSITE_profiles:PS50119,hmmpanther:PTHR44028,hmmpanther:PTHR44028:SF1,SMART_domains:SM00336,Superfamily_domains:SSF57845,cd00021 MODERATE 1 SNV 2 PASS ATG . . 6458075 SLC15A3 . GRCh38 chr11 60951185 60951185 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.367T>G p.Phe123Val p.F123V ENST00000227880 1/8 63 50 12 29 28 1 SLC15A3,missense_variant,p.Phe123Val,ENST00000227880,NM_016582.2;SLC15A3,5_prime_UTR_variant,,ENST00000538739,;SLC15A3,upstream_gene_variant,,ENST00000536491,;SLC15A3,missense_variant,p.Phe123Val,ENST00000541505,;SLC15A3,upstream_gene_variant,,ENST00000540272,;,regulatory_region_variant,,ENSR00000040171,; C ENSG00000110446 ENST00000227880 Transcript missense_variant 601/2115 367/1746 123/581 F/V Ttc/Gtc 1 -1 SLC15A3 HGNC HGNC:18068 protein_coding YES CCDS7998.1 ENSP00000227880 Q8IY34 UPI000004433B NM_016582.2 tolerated(0.52) benign(0.041) 1/8 Gene3D:1.20.1250.20,Pfam_domain:PF00854,hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF95,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS AAG . . 60951185 SYT7 . GRCh38 chr11 61546232 61546232 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.239A>C p.Lys80Thr p.K80T ENST00000540677 4/10 50 34 13 27 27 0 SYT7,missense_variant,p.Lys124Thr,ENST00000539008,;SYT7,missense_variant,p.Lys80Thr,ENST00000540677,NM_001252065.1;SYT7,missense_variant,p.Lys124Thr,ENST00000535826,;SYT7,intron_variant,,ENST00000263846,NM_004200.3;SYT7,intron_variant,,ENST00000542670,;SYT7,intron_variant,,ENST00000542836,NM_001300773.1;SYT7,intron_variant,,ENST00000545053,;AP003559.1,upstream_gene_variant,,ENST00000540906,;SYT7,3_prime_UTR_variant,,ENST00000539468,;SYT7,intron_variant,,ENST00000539246,; G ENSG00000011347 ENST00000540677 Transcript missense_variant 245/2013 239/1437 80/478 K/T aAa/aCa 1 -1 SYT7 HGNC HGNC:11514 protein_coding YES CCDS58139.1 ENSP00000444201 O43581 UPI0001639ECE NM_001252065.1 tolerated_low_confidence(0.53) benign(0.094) 4/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTT . . 61546232 LRP5 . GRCh38 chr11 68312807 68312807 + Splice_Site SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.91+2T>G p.X31_splice ENST00000294304 33 24 7 30 30 0 LRP5,splice_donor_variant,,ENST00000294304,NM_001291902.1,NM_002335.3;LRP5,splice_donor_variant,,ENST00000529993,;,regulatory_region_variant,,ENSR00000041212,; G ENSG00000162337 ENST00000294304 Transcript splice_donor_variant 1 1 LRP5 HGNC HGNC:6697 protein_coding YES CCDS8181.1 ENSP00000294304 O75197 UPI0000073246 NM_001291902.1,NM_002335.3 1/22 HIGH 1 SNV 1 1 PASS GTA . . 68312807 NCOR2 . GRCh38 chr12 124372319 124372319 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.2510T>G p.Val837Gly p.V837G ENST00000405201 20/47 61 51 8 35 33 0 NCOR2,missense_variant,p.Val837Gly,ENST00000405201,NM_006312.5;NCOR2,missense_variant,p.Val819Gly,ENST00000404621,NM_001077261.3;NCOR2,missense_variant,p.Val819Gly,ENST00000429285,NM_001206654.1;NCOR2,missense_variant,p.Val394Gly,ENST00000356219,;NCOR2,missense_variant,p.Val377Gly,ENST00000404121,;NCOR2,missense_variant,p.Val837Gly,ENST00000458234,;NCOR2,downstream_gene_variant,,ENST00000448614,;,regulatory_region_variant,,ENSR00000058860,; C ENSG00000196498 ENST00000405201 Transcript missense_variant 2511/8533 2510/7545 837/2514 V/G gTg/gGg 1 -1 NCOR2 HGNC HGNC:7673 protein_coding YES CCDS41858.2 ENSP00000384018 C9JFD3 UPI000013D737 NM_006312.5 tolerated(0.53) benign(0.025) 20/47 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF21 MODERATE 1 SNV 1 1 PASS CAC . . 124372319 FBRSL1 . GRCh38 chr12 132583446 132583446 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.2806T>G p.Tyr936Asp p.Y936D ENST00000434748 17/17 43 27 9 29 28 0 FBRSL1,missense_variant,p.Tyr936Asp,ENST00000434748,NM_001142641.1;MIR6763,downstream_gene_variant,,ENST00000612332,;FBRSL1,downstream_gene_variant,,ENST00000542306,; G ENSG00000112787 ENST00000434748 Transcript missense_variant 3826/5568 2806/3138 936/1045 Y/D Tac/Gac 1 1 FBRSL1 HGNC HGNC:29308 protein_coding YES CCDS45010.1 ENSP00000396160 Q9HCM7 UPI00018830C3 NM_001142641.1 deleterious(0.02) benign(0.013) 17/17 mobidb-lite,hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF20 MODERATE 1 SNV 1 PASS CTA . . 132583446 GJA3 . GRCh38 chr13 20142161 20142161 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.1128T>G p.Asp376Glu p.D376E ENST00000241125 2/2 59 48 7 45 43 1 GJA3,missense_variant,p.Asp376Glu,ENST00000241125,NM_021954.3;,regulatory_region_variant,,ENSR00000059635,; C ENSG00000121743 ENST00000241125 Transcript missense_variant 1305/5211 1128/1308 376/435 D/E gaT/gaG 1 -1 GJA3 HGNC HGNC:4277 protein_coding YES CCDS9289.1 ENSP00000241125 Q9Y6H8 UPI0000052BDE NM_021954.3 tolerated(1) benign(0.003) 2/2 hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF12,Superfamily_domains:SSF118220,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 3 1 PASS CAT . . 20142161 RGCC . GRCh38 chr13 41457762 41457762 + Splice_Region SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.49+6T>G ENST00000379359 36 26 7 36 34 0 RGCC,splice_region_variant,,ENST00000379359,NM_014059.2;,regulatory_region_variant,,ENSR00000061799,; G ENSG00000102760 ENST00000379359 Transcript splice_region_variant,intron_variant 1 1 RGCC HGNC HGNC:20369 protein_coding YES CCDS41880.1 ENSP00000368664 Q9H4X1 UPI000006D63E NM_014059.2 1/4 LOW 1 SNV 1 PASS GTG . . 41457762 SOX1 . GRCh38 chr13 112068548 112068548 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.890T>G p.Val297Gly p.V297G ENST00000330949 1/1 38 22 8 28 27 0 SOX1,missense_variant,p.Val297Gly,ENST00000330949,NM_005986.2; G ENSG00000182968 ENST00000330949 Transcript missense_variant 902/2842 890/1176 297/391 V/G gTg/gGg 1 1 SOX1 HGNC HGNC:11189 protein_coding YES CCDS9523.1 ENSP00000330218 O00570 UPI0000190FB0 NM_005986.2 tolerated(0.42) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF40,Gene3D:1.10.30.10 MODERATE 1 SNV PASS GTG . . 112068548 NIPA1 . GRCh38 chr15 22786657 22786657 + Translation_Start_Site SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.1A>C p.Met1? p.M1? ENST00000337435 1/5 40 26 9 30 30 0 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; C ENSG00000170113 ENST00000337435 Transcript start_lost 26/6567 1/990 1/329 M/L Atg/Ctg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS AAT . . 22786657 KLF13 . GRCh38 chr15 31327567 31327567 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.355A>C p.Ser119Arg p.S119R ENST00000307145 1/2 53 40 11 34 33 1 KLF13,missense_variant,p.Ser119Arg,ENST00000307145,NM_015995.3;KLF13,non_coding_transcript_exon_variant,,ENST00000558921,;,regulatory_region_variant,,ENSR00000074488,; C ENSG00000169926 ENST00000307145 Transcript missense_variant 713/6825 355/867 119/288 S/R Agc/Cgc 1 1 KLF13 HGNC HGNC:13672 protein_coding YES CCDS10025.1 ENSP00000302456 Q9Y2Y9 X5DNR2 UPI000012DEDC NM_015995.3 tolerated(0.29) benign(0.003) 1/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAG . . 31327567 CCDC154 . GRCh38 chr16 1436089 1436089 + Splice_Region SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.1515-3T>G ENST00000389176 58 48 9 28 28 0 CCDC154,splice_region_variant,,ENST00000389176,NM_001143980.1;CCDC154,splice_region_variant,,ENST00000409671,;AL032819.3,downstream_gene_variant,,ENST00000640283,;AL032819.2,upstream_gene_variant,,ENST00000624543,;CCDC154,intron_variant,,ENST00000483702,;CCDC154,upstream_gene_variant,,ENST00000463299,;,regulatory_region_variant,,ENSR00000082344,; C ENSG00000197599 ENST00000389176 Transcript splice_region_variant,intron_variant 1 -1 CCDC154 HGNC HGNC:34454 protein_coding YES ENSP00000373828 A6NI56 UPI000178DF39 NM_001143980.1 13/16 LOW 1 SNV 5 PASS TAT . . 1436089 MAPK8IP3 . GRCh38 chr16 1762363 1762363 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.1552A>C p.Met518Leu p.M518L ENST00000610761 14/32 63 52 6 38 37 1 MAPK8IP3,missense_variant,p.Met517Leu,ENST00000250894,NM_015133.4;MAPK8IP3,missense_variant,p.Met518Leu,ENST00000610761,NM_001318852.1;MAPK8IP3,missense_variant,p.Met511Leu,ENST00000356010,NM_001040439.1;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000566589,;MAPK8IP3,upstream_gene_variant,,ENST00000561949,;MAPK8IP3,upstream_gene_variant,,ENST00000562042,;MAPK8IP3,upstream_gene_variant,,ENST00000564868,;MAPK8IP3,upstream_gene_variant,,ENST00000566064,;MAPK8IP3,upstream_gene_variant,,ENST00000567352,;MAPK8IP3,downstream_gene_variant,,ENST00000567849,;MAPK8IP3,upstream_gene_variant,,ENST00000570131,; C ENSG00000138834 ENST00000610761 Transcript missense_variant 1672/5626 1552/4014 518/1337 M/L Atg/Ctg 1 1 MAPK8IP3 HGNC HGNC:6884 protein_coding YES CCDS81929.1 ENSP00000481780 A0A087WYG2 UPI000387BF89 NM_001318852.1 tolerated(1) possibly_damaging(0.841) 14/32 Gene3D:1.20.1270.60,hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF3 MODERATE 1 SNV 1 PASS CAT . . 1762363 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 66 48 13 29 29 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 INPP5K . GRCh38 chr17 1516486 1516486 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.14A>C p.Lys5Thr p.K5T ENST00000421807 1/12 63 54 8 50 49 0 INPP5K,missense_variant,p.Lys5Thr,ENST00000421807,NM_016532.3;INPP5K,missense_variant,p.Lys5Thr,ENST00000575172,;INPP5K,missense_variant,p.Lys5Thr,ENST00000574561,;INPP5K,5_prime_UTR_variant,,ENST00000406424,NM_001135642.1;INPP5K,5_prime_UTR_variant,,ENST00000320345,NM_130766.2;INPP5K,5_prime_UTR_variant,,ENST00000449479,;INPP5K,5_prime_UTR_variant,,ENST00000477910,;INPP5K,5_prime_UTR_variant,,ENST00000498390,;PITPNA,downstream_gene_variant,,ENST00000313486,NM_006224.3;PITPNA,downstream_gene_variant,,ENST00000539476,;INPP5K,upstream_gene_variant,,ENST00000571274,;PITPNA-AS1,upstream_gene_variant,,ENST00000425081,;INPP5K,missense_variant,p.Lys5Thr,ENST00000350761,;INPP5K,missense_variant,p.Lys5Thr,ENST00000573790,;INPP5K,missense_variant,p.Lys5Thr,ENST00000574955,;INPP5K,missense_variant,p.Lys5Thr,ENST00000445774,;INPP5K,upstream_gene_variant,,ENST00000460733,;PITPNA,downstream_gene_variant,,ENST00000575288,;INPP5K,upstream_gene_variant,,ENST00000576646,;,regulatory_region_variant,,ENSR00000090095,;,TF_binding_site_variant,,MA0062.2,; G ENSG00000132376 ENST00000421807 Transcript missense_variant 403/2988 14/1347 5/448 K/T aAg/aCg 1 -1 INPP5K HGNC HGNC:33882 protein_coding YES CCDS11004.1 ENSP00000413937 Q9BT40 UPI000006EC12 NM_016532.3 deleterious(0.01) benign(0.116) 1/12 hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF117,Gene3D:3.60.10.10 MODERATE 1 SNV 1 1 PASS CTT . . 1516486 KCNJ18 . GRCh38 chr17 21703783 21703785 + In_Frame_Del DEL GAG GAG - rs1393193538 7316-2174 BS_SWHT4TC3 GAG GAG c.1000_1002del p.Glu334del p.E334del ENST00000567955 3/3 76 56 13 32 30 0 KCNJ18,inframe_deletion,p.Glu334del,ENST00000567955,NM_001194958.2; - ENSG00000260458 ENST00000567955 Transcript inframe_deletion 1367-1369/2196 997-999/1302 333/433 E/- GAG/- rs1393193538 1 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540 UPI0002064ECF NM_001194958.2 3/3 Gene3D:2.60.40.1400,Pfam_domain:PF01007,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Superfamily_domains:SSF81296 MODERATE 1 deletion 1 3 1 PASS TCGAGG . . 21703782 KCNJ18 . GRCh38 chr17 21703814 21703814 + Missense_Mutation SNP C C T rs1265659969 7316-2174 BS_SWHT4TC3 C C c.1028C>T p.Ser343Leu p.S343L ENST00000567955 3/3 75 60 13 30 30 0 KCNJ18,missense_variant,p.Ser343Leu,ENST00000567955,NM_001194958.2; T ENSG00000260458 ENST00000567955 Transcript missense_variant 1398/2196 1028/1302 343/433 S/L tCg/tTg rs1265659969 1 1 KCNJ18 HGNC HGNC:39080 protein_coding YES CCDS74015.1 ENSP00000457807 B7U540 UPI0002064ECF NM_001194958.2 deleterious(0.02) benign(0.005) 3/3 Gene3D:2.60.40.1400,Pfam_domain:PF01007,Prints_domain:PR01320,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Superfamily_domains:SSF81296 MODERATE 1 SNV 1 1 PASS TCG . . 21703814 KRTAP4-11 . GRCh38 chr17 41117835 41117835 + Missense_Mutation SNP G G C rs75622986 7316-2174 BS_SWHT4TC3 G G c.481C>G p.Leu161Val p.L161V ENST00000391413 1/1 77 59 16 40 39 1 KRTAP4-11,missense_variant,p.Leu161Val,ENST00000391413,NM_033059.3; C ENSG00000212721 ENST00000391413 Transcript missense_variant 526/1180 481/588 161/195 L/V Ctg/Gtg rs75622986,COSM436558 1 -1 KRTAP4-11 HGNC HGNC:18911 protein_coding YES CCDS45675.1 ENSP00000375232 Q9BYQ6 UPI00001AFBF7 NM_033059.3 tolerated(0.28) benign(0.023) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF138 0,1 MODERATE 1 SNV 0,1 PASS AGG . . 0.06037 0.1112 0.1301 0.04617 0.1393 0.05079 0.02779 0.05474 0.02613 41117835 KRTAP4-5 . GRCh38 chr17 41149562 41149562 + Missense_Mutation SNP T T G rs377168597 7316-2174 BS_SWHT4TC3 T T c.206A>C p.Tyr69Ser p.Y69S ENST00000343246 1/1 48 30 11 52 49 3 KRTAP4-5,missense_variant,p.Tyr69Ser,ENST00000343246,NM_033188.3; G ENSG00000198271 ENST00000343246 Transcript missense_variant 241/879 206/546 69/181 Y/S tAt/tCt rs377168597,COSM6305797 1 -1 KRTAP4-5 HGNC HGNC:18899 protein_coding YES CCDS32650.1 ENSP00000340546 Q9BYR2 UPI0000456AA3 NM_033188.3 tolerated(1) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF132,Pfam_domain:PF13885 0,1 MODERATE 1 SNV 0,1 PASS ATA . . 0.0001225 0.0001012 0.0003599 0.0003312 6.454e-05 0.0001546 41149562 FSCN2 . GRCh38 chr17 81536778 81536778 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.1334A>C p.Tyr445Ser p.Y445S ENST00000334850 4/5 53 41 9 37 35 1 FSCN2,missense_variant,p.Tyr421Ser,ENST00000417245,NM_012418.3;FSCN2,missense_variant,p.Tyr445Ser,ENST00000334850,NM_001077182.2;FAAP100,downstream_gene_variant,,ENST00000327787,NM_025161.5;FAAP100,downstream_gene_variant,,ENST00000425898,;FSCN2,non_coding_transcript_exon_variant,,ENST00000527221,;FAAP100,downstream_gene_variant,,ENST00000443656,;,regulatory_region_variant,,ENSR00000099432,; C ENSG00000186765 ENST00000334850 Transcript missense_variant 1334/1551 1334/1551 445/516 Y/S tAc/tCc 1 1 FSCN2 HGNC HGNC:3960 protein_coding YES CCDS45810.1 ENSP00000334665 O14926 UPI0000E5925D NM_001077182.2 deleterious(0) possibly_damaging(0.857) 4/5 Gene3D:2.80.10.50,Pfam_domain:PF06268,PIRSF_domain:PIRSF005682,hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF22,Superfamily_domains:SSF50405,cd00257 MODERATE SNV 5 1 PASS TAC . . 81536778 TXNDC2 . GRCh38 chr18 9887098 9887098 + Missense_Mutation SNP G G T novel 7316-2174 BS_SWHT4TC3 G G c.619G>T p.Gly207Cys p.G207C ENST00000306084 2/2 42 32 6 42 42 0 TXNDC2,missense_variant,p.Gly140Cys,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Gly207Cys,ENST00000611534,;TXNDC2,missense_variant,p.Gly207Cys,ENST00000306084,NM_001098529.1;TXNDC2,intron_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; T ENSG00000168454 ENST00000306084 Transcript missense_variant 818/1873 619/1662 207/553 G/C Ggt/Tgt 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 deleterious(0.01) probably_damaging(0.988) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 MODERATE 1 SNV 1 PASS GGG . . 9887098 CD70 . GRCh38 chr19 6590097 6590097 + Splice_Region SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.196+6A>C ENST00000423145 45 36 6 35 34 0 CD70,splice_region_variant,,ENST00000245903,NM_001252.4;CD70,splice_region_variant,,ENST00000423145,;CD70,downstream_gene_variant,,ENST00000597430,;,regulatory_region_variant,,ENSR00000106546,;RPL7P50,upstream_gene_variant,,ENST00000600588,; G ENSG00000125726 ENST00000423145 Transcript splice_region_variant,intron_variant 1 -1 CD70 HGNC HGNC:11937 protein_coding YES CCDS82283.1 ENSP00000395294 P32970 UPI00017A771B 2/3 LOW 1 SNV 2 PASS GTG . . 6590097 ZNF791 . GRCh38 chr19 12628430 12628430 + Missense_Mutation SNP A A G rs1172893327 7316-2174 BS_SWHT4TC3 A A c.901A>G p.Lys301Glu p.K301E ENST00000343325 4/4 73 62 6 38 37 1 ZNF791,missense_variant,p.Lys301Glu,ENST00000343325,NM_153358.2;ZNF791,3_prime_UTR_variant,,ENST00000446165,;ZNF791,downstream_gene_variant,,ENST00000600752,;ZNF490,intron_variant,,ENST00000465656,;ZNF791,downstream_gene_variant,,ENST00000597691,;ZNF791,downstream_gene_variant,,ENST00000598225,; G ENSG00000173875 ENST00000343325 Transcript missense_variant 1063/4554 901/1731 301/576 K/E Aaa/Gaa rs1172893327 1 1 ZNF791 HGNC HGNC:26895 protein_coding YES CCDS12273.1 ENSP00000342974 Q3KP31 UPI0000203455 NM_153358.2 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF26,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TAA . . 12628430 CACNA1A . GRCh38 chr19 13212748 13212748 + Splice_Region SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.5959-8T>G ENST00000638029 52 42 6 45 43 0 CACNA1A,splice_region_variant,,ENST00000360228,NM_001127222.1;CACNA1A,splice_region_variant,,ENST00000573710,;CACNA1A,splice_region_variant,,ENST00000585802,;CACNA1A,splice_region_variant,,ENST00000587525,;CACNA1A,splice_region_variant,,ENST00000614285,;CACNA1A,splice_region_variant,,ENST00000635727,;CACNA1A,splice_region_variant,,ENST00000635895,;CACNA1A,splice_region_variant,,ENST00000636012,;CACNA1A,splice_region_variant,,ENST00000636389,;CACNA1A,splice_region_variant,,ENST00000636473,;CACNA1A,splice_region_variant,,ENST00000636549,NM_001174080.1;CACNA1A,splice_region_variant,,ENST00000637276,;CACNA1A,splice_region_variant,,ENST00000637432,NM_000068.3;CACNA1A,splice_region_variant,,ENST00000637736,;CACNA1A,splice_region_variant,,ENST00000637769,;CACNA1A,splice_region_variant,,ENST00000637819,;CACNA1A,splice_region_variant,,ENST00000637927,;CACNA1A,splice_region_variant,,ENST00000638009,NM_001127221.1;CACNA1A,splice_region_variant,,ENST00000638029,NM_023035.2;CACNA1A,splice_region_variant,,ENST00000636610,;CACNA1A,splice_region_variant,,ENST00000636768,;CACNA1A,downstream_gene_variant,,ENST00000586190,;CACNA1A,downstream_gene_variant,,ENST00000635988,;CACNA1A,downstream_gene_variant,,ENST00000636074,;CACNA1A,downstream_gene_variant,,ENST00000638114,;,regulatory_region_variant,,ENSR00000287499,; C ENSG00000141837 ENST00000638029 Transcript splice_region_variant,intron_variant 1 -1 CACNA1A HGNC HGNC:1388 protein_coding YES CCDS82300.1 ENSP00000489829 A0A087WW63 UPI000152B4F1 NM_023035.2 41/47 LOW 1 SNV 5 1 PASS AAT . . 13212748 TMEM161A . GRCh38 chr19 19121329 19121329 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.893T>G p.Phe298Cys p.F298C ENST00000162044 9/12 59 49 10 44 43 0 TMEM161A,missense_variant,p.Phe195Cys,ENST00000450333,NM_001256766.1;TMEM161A,missense_variant,p.Phe298Cys,ENST00000162044,NM_017814.2;TMEM161A,missense_variant,p.Phe273Cys,ENST00000587583,;TMEM161A,missense_variant,p.Phe281Cys,ENST00000587096,;TMEM161A,intron_variant,,ENST00000587925,;TMEM161A,missense_variant,p.Phe298Cys,ENST00000587985,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000587406,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000589448,;TMEM161A,downstream_gene_variant,,ENST00000590216,;TMEM161A,downstream_gene_variant,,ENST00000591031,;TMEM161A,upstream_gene_variant,,ENST00000591443,;,regulatory_region_variant,,ENSR00000108196,; C ENSG00000064545 ENST00000162044 Transcript missense_variant 958/1820 893/1440 298/479 F/C tTt/tGt 1 -1 TMEM161A HGNC HGNC:26020 protein_coding YES CCDS12393.1 ENSP00000162044 Q9NX61 UPI00000373EF NM_017814.2 deleterious(0.02) benign(0.203) 9/12 hmmpanther:PTHR13624,hmmpanther:PTHR13624:SF4,Pfam_domain:PF10268 MODERATE 1 SNV 1 PASS AAA . . 19121329 ZNF486 . GRCh38 chr19 20197510 20197510 + Missense_Mutation SNP T T A novel 7316-2174 BS_SWHT4TC3 T T c.800T>A p.Ile267Asn p.I267N ENST00000335117 4/4 47 40 6 46 45 1 ZNF486,missense_variant,p.Ile267Asn,ENST00000335117,NM_052852.3;AC011447.3,intron_variant,,ENST00000585498,;AC011447.3,intron_variant,,ENST00000586657,;AC011447.3,intron_variant,,ENST00000593655,; A ENSG00000256229 ENST00000335117 Transcript missense_variant 857/3837 800/1392 267/463 I/N aTt/aAt 1 1 ZNF486 HGNC HGNC:20807 protein_coding YES CCDS46029.1 ENSP00000335042 Q96H40 UPI00002376E8 NM_052852.3 deleterious(0.01) benign(0.006) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF95,hmmpanther:PTHR24384,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATT . . 20197510 KMT2B . GRCh38 chr19 35718287 35718287 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.269A>C p.Gln90Pro p.Q90P ENST00000420124 1/37 52 37 10 48 48 0 KMT2B,missense_variant,p.Gln90Pro,ENST00000420124,NM_014727.2;ZBTB32,downstream_gene_variant,,ENST00000262630,;ZBTB32,downstream_gene_variant,,ENST00000392197,NM_014383.2,NM_001316902.1;ZBTB32,downstream_gene_variant,,ENST00000426659,NM_001316903.1;ZBTB32,downstream_gene_variant,,ENST00000442282,;ZBTB32,downstream_gene_variant,,ENST00000451726,;KMT2B,upstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000481182,;,regulatory_region_variant,,ENSR00000109057,; C ENSG00000272333 ENST00000420124 Transcript missense_variant 269/8469 269/8148 90/2715 Q/P cAg/cCg 1 1 KMT2B HGNC HGNC:15840 protein_coding YES CCDS46055.1 ENSP00000398837 Q9UMN6 UPI00001376B5 NM_014727.2 deleterious_low_confidence(0) benign(0.185) 1/37 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAG . . 35718287 MAP3K10 . GRCh38 chr19 40192032 40192032 + Translation_Start_Site SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.1A>C p.Met1? p.M1? ENST00000253055 1/10 35 21 7 40 37 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; C ENSG00000130758 ENST00000253055 Transcript start_lost 289/3436 1/2865 1/954 M/L Atg/Ctg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.456) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS CAT . . 40192032 BCAM . GRCh38 chr19 44820703 44820703 + Splice_Site SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.1764-2A>C p.X588_splice ENST00000270233 52 35 12 51 50 0 BCAM,splice_acceptor_variant,,ENST00000270233,NM_005581.4;BCAM,3_prime_UTR_variant,,ENST00000611077,NM_001013257.2;BCAM,downstream_gene_variant,,ENST00000588714,;BCAM,downstream_gene_variant,,ENST00000589558,;BCAM,downstream_gene_variant,,ENST00000590196,;,regulatory_region_variant,,ENSR00000110109,; C ENSG00000187244 ENST00000270233 Transcript splice_acceptor_variant 1 1 BCAM HGNC HGNC:6722 protein_coding YES CCDS12644.1 ENSP00000270233 P50895 UPI0000190806 NM_005581.4 13/14 HIGH 1 SNV 1 1 PASS CAG . . 44820703 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 42 29 7 43 42 1 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 RPL13A . GRCh38 chr19 49487647 49487647 + Splice_Region SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.15+3A>C ENST00000391857 65 52 8 30 30 0 RPL13A,splice_region_variant,,ENST00000391857,NM_012423.3;RPL13A,splice_region_variant,,ENST00000467825,;RPL13A,splice_region_variant,,ENST00000621674,NM_001270491.1;FLT3LG,downstream_gene_variant,,ENST00000204637,NM_001278638.1,NM_001278637.1;FLT3LG,downstream_gene_variant,,ENST00000594009,NM_001204503.1;FLT3LG,downstream_gene_variant,,ENST00000596435,;FLT3LG,downstream_gene_variant,,ENST00000597551,NM_001204502.1,NM_001459.3;FLT3LG,downstream_gene_variant,,ENST00000598555,;FLT3LG,downstream_gene_variant,,ENST00000600429,;SNORD33,upstream_gene_variant,,ENST00000362761,;SNORD35A,upstream_gene_variant,,ENST00000363389,;SNORD32A,upstream_gene_variant,,ENST00000364805,;SNORD34,upstream_gene_variant,,ENST00000365633,;RPL13A,splice_region_variant,,ENST00000477613,;AC010619.2,downstream_gene_variant,,ENST00000595815,;RPL13A,splice_region_variant,,ENST00000472481,;RPL13A,splice_region_variant,,ENST00000479992,;RPL13A,splice_region_variant,,ENST00000484279,;RPL13A,splice_region_variant,,ENST00000486930,;RPL13A,splice_region_variant,,ENST00000488946,;RPL13A,splice_region_variant,,ENST00000624069,;RPL13A,upstream_gene_variant,,ENST00000468655,;RPL13A,upstream_gene_variant,,ENST00000474171,;RPL13A,upstream_gene_variant,,ENST00000476268,;RPL13A,upstream_gene_variant,,ENST00000476300,;FLT3LG,downstream_gene_variant,,ENST00000598472,;AC010619.1,downstream_gene_variant,,ENST00000599536,;FLT3LG,downstream_gene_variant,,ENST00000600084,;FLT3LG,downstream_gene_variant,,ENST00000601800,;,regulatory_region_variant,,ENSR00000110904,; C ENSG00000142541 ENST00000391857 Transcript splice_region_variant,intron_variant 1 1 RPL13A HGNC HGNC:10304 protein_coding YES CCDS12768.1 ENSP00000375730 P40429 UPI000013D896 NM_012423.3 1/7 LOW 1 SNV 1 PASS TAT . . 49487647 NAT14 . GRCh38 chr19 55486546 55486546 + Missense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.211T>G p.Phe71Val p.F71V ENST00000205194 3/3 54 46 7 29 28 0 NAT14,missense_variant,p.Phe71Val,ENST00000205194,NM_020378.3;NAT14,missense_variant,p.Phe43Val,ENST00000588985,;NAT14,3_prime_UTR_variant,,ENST00000591590,;NAT14,intron_variant,,ENST00000587400,;SSC5D,upstream_gene_variant,,ENST00000389623,NM_001144950.1;ZNF628,downstream_gene_variant,,ENST00000391718,;SSC5D,upstream_gene_variant,,ENST00000587166,NM_001195267.1;SSC5D,upstream_gene_variant,,ENST00000594321,;ZNF628,downstream_gene_variant,,ENST00000598519,NM_033113.2;NAT14,intron_variant,,ENST00000592719,;SSC5D,upstream_gene_variant,,ENST00000588254,; G ENSG00000090971 ENST00000205194 Transcript missense_variant 514/1536 211/621 71/206 F/V Ttc/Gtc 1 1 NAT14 HGNC HGNC:28918 protein_coding YES CCDS12926.1 ENSP00000205194 Q8WUY8 UPI000006EC7E NM_020378.3 deleterious(0.04) benign(0.026) 3/3 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS51186,hmmpanther:PTHR13947,hmmpanther:PTHR13947:SF37,Gene3D:3.40.630.30 MODERATE 1 SNV 1 PASS GTT . . 55486546 ZNF71 . GRCh38 chr19 56622554 56622554 + Missense_Mutation SNP G G T rs774584964 7316-2174 BS_SWHT4TC3 G G c.1267G>T p.Ala423Ser p.A423S ENST00000328070 3/3 70 55 11 42 41 0 ZNF71,missense_variant,p.Ala423Ser,ENST00000328070,NM_021216.4;ZNF71,downstream_gene_variant,,ENST00000599599,; T ENSG00000197951 ENST00000328070 Transcript missense_variant 1501/5428 1267/1470 423/489 A/S Gcc/Tcc rs774584964,COSM5856871,COSM5036590 1 1 ZNF71 HGNC HGNC:13141 protein_coding YES CCDS12947.1 ENSP00000328245 Q9NQZ8 UPI00000437FA NM_021216.4 tolerated(1) benign(0.001) 3/3 Gene3D:2.20.28.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44237,hmmpanther:PTHR44237:SF4,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGC . . 56622554 SOX18 . GRCh38 chr20 64049239 64049239 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.278T>G p.Met93Arg p.M93R ENST00000340356 1/2 63 51 9 45 44 0 SOX18,missense_variant,p.Met93Arg,ENST00000340356,NM_018419.2;TCEA2,upstream_gene_variant,,ENST00000475792,;,regulatory_region_variant,,ENSR00000140010,; C ENSG00000203883 ENST00000340356 Transcript missense_variant 403/1864 278/1155 93/384 M/R aTg/aGg 1 -1 SOX18 HGNC HGNC:11194 protein_coding YES CCDS13552.1 ENSP00000341815 P35713 UPI0000001C70 NM_018419.2 deleterious(0) benign(0.029) 1/2 Gene3D:1.10.30.10,Pfam_domain:PF00505,PROSITE_profiles:PS50118,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF204,SMART_domains:SM00398,Superfamily_domains:SSF47095,cd01388 MODERATE 1 SNV 1 1 PASS CAT . . 64049239 KRTAP10-4 . GRCh38 chr21 44574784 44574784 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.1026A>C p.Gln342His p.Q342H ENST00000400374 1/1 64 47 7 48 46 0 KRTAP10-4,missense_variant,p.Gln342His,ENST00000400374,NM_198687.2;KRTAP10-4,missense_variant,p.Gln139His,ENST00000616689,;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000622352,;KRTAP10-5,downstream_gene_variant,,ENST00000400372,NM_198694.3;TSPEAR,upstream_gene_variant,,ENST00000397916,;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000215454 ENST00000400374 Transcript missense_variant 1056/1643 1026/1206 342/401 Q/H caA/caC 1 1 KRTAP10-4 HGNC HGNC:20521 protein_coding YES CCDS42957.1 ENSP00000383225 P60372 UPI00003D4D6E NM_198687.2 tolerated(0.15) benign(0.353) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF142,Low_complexity_(Seg):seg MODERATE SNV PASS AAT . . 44574784 SYN1 . GRCh38 chrX 47619521 47619521 + Missense_Mutation SNP A A C novel 7316-2174 BS_SWHT4TC3 A A c.208T>G p.Ser70Ala p.S70A ENST00000295987 1/13 52 43 6 31 31 0 SYN1,missense_variant,p.Ser70Ala,ENST00000295987,NM_006950.3;SYN1,missense_variant,p.Ser70Ala,ENST00000340666,NM_133499.2;CFP,downstream_gene_variant,,ENST00000247153,NM_002621.2;CFP,downstream_gene_variant,,ENST00000396992,NM_001145252.1;SYN1,upstream_gene_variant,,ENST00000639776,;AL009172.2,intron_variant,,ENST00000638776,;CFP,downstream_gene_variant,,ENST00000478222,;CFP,downstream_gene_variant,,ENST00000640573,;,regulatory_region_variant,,ENSR00000246430,; C ENSG00000008056 ENST00000295987 Transcript missense_variant 423/3299 208/2118 70/705 S/A Tcc/Gcc 1 -1 SYN1 HGNC HGNC:11494 protein_coding YES CCDS14280.1 ENSP00000295987 P17600 UPI0000167B47 NM_006950.3 tolerated(0.74) benign(0.039) 1/13 hmmpanther:PTHR10841,hmmpanther:PTHR10841:SF22,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS GAC . . 47619521 ARMCX4 . GRCh38 chrX 101491075 101491075 + Missense_Mutation SNP A A G rs994987812 7316-2174 BS_SWHT4TC3 A A c.2486A>G p.Gln829Arg p.Q829R ENST00000423738 2/2 51 34 6 38 38 0 ARMCX4,missense_variant,p.Gln829Arg,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; G ENSG00000196440 ENST00000423738 Transcript missense_variant 2688/7424 2486/6873 829/2290 Q/R cAg/cGg rs994987812 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.06) benign(0.084) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS CAG . . 101491075 RBMXL3 . GRCh38 chrX 115191188 115191188 + Missense_Mutation SNP A A C rs1460842113 7316-2174 BS_SWHT4TC3 A A c.1747A>C p.Asn583His p.N583H ENST00000424776 1/1 55 41 8 36 32 0 RBMXL3,missense_variant,p.Asn583His,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343012,; C ENSG00000175718 ENST00000424776 Transcript missense_variant 1762/3442 1747/3204 583/1067 N/H Aac/Cac rs1460842113 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.24) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345,hmmpanther:PTHR44345 MODERATE SNV PASS CAA . . 115191188 MT-ND1 . GRCh38 chrM 3578 3578 + Nonsense_Mutation SNP T T G novel 7316-2174 BS_SWHT4TC3 T T c.272T>G p.Met91Ter p.M91* ENST00000361390 1/1 13630 10815 670 3775 3588 8 MT-ND1,stop_gained,p.Met91Ter,ENST00000361390,;MT-ND2,upstream_gene_variant,,ENST00000361453,;MT-CO1,upstream_gene_variant,,ENST00000361624,;MT-CO2,upstream_gene_variant,,ENST00000361739,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-TF,downstream_gene_variant,,ENST00000387314,;MT-TV,downstream_gene_variant,,ENST00000387342,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,upstream_gene_variant,,ENST00000387365,;MT-TQ,downstream_gene_variant,,ENST00000387372,;MT-TM,upstream_gene_variant,,ENST00000387377,;MT-TW,upstream_gene_variant,,ENST00000387382,;MT-TA,downstream_gene_variant,,ENST00000387392,;MT-TN,downstream_gene_variant,,ENST00000387400,;MT-TC,downstream_gene_variant,,ENST00000387405,;MT-TY,downstream_gene_variant,,ENST00000387409,;MT-TS1,downstream_gene_variant,,ENST00000387416,;MT-TD,upstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-RNR1,downstream_gene_variant,,ENST00000389680,; G ENSG00000198888 ENST00000361390 Transcript stop_gained 272/956 272/956 91/318 M/* aTa/aGa 1 1 MT-ND1 HGNC HGNC:7455 protein_coding YES ENSP00000354687 P03886 U5Z754 UPI0000000AA1 1/1 PDB-ENSP_mappings:5xtc.s,PDB-ENSP_mappings:5xtd.s,Low_complexity_(Seg):seg,HAMAP:MF_01350,hmmpanther:PTHR11432:SF3,hmmpanther:PTHR11432,Pfam_domain:PF00146 HIGH 1 SNV 1 PASS ATA . . 3578 F5 . GRCh38 chr1 169541161 169541161 + Missense_Mutation SNP G G C rs879158814 7316-2755 BS_TA48KCWF G G c.3929C>G p.Thr1310Arg p.T1310R ENST00000367797 13/25 48 37 7 26 22 0 F5,missense_variant,p.Thr1315Arg,ENST00000367796,;F5,missense_variant,p.Thr1310Arg,ENST00000367797,NM_000130.4; C ENSG00000198734 ENST00000367797 Transcript missense_variant 4131/7024 3929/6675 1310/2224 T/R aCa/aGa rs879158814 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(0.09) possibly_damaging(0.462) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199 MODERATE 1 SNV 1 1 PASS TGT . . 169541161 ZNF648 . GRCh38 chr1 182056768 182056768 + Missense_Mutation SNP A A T rs1234475620 7316-2755 BS_TA48KCWF A A c.1243T>A p.Ser415Thr p.S415T ENST00000339948 2/2 100 92 8 32 32 0 ZNF648,missense_variant,p.Ser415Thr,ENST00000339948,NM_001009992.1;,regulatory_region_variant,,ENSR00000016664,; T ENSG00000179930 ENST00000339948 Transcript missense_variant 1451/3649 1243/1707 415/568 S/T Tcg/Acg rs1234475620,COSM6209606 1 -1 ZNF648 HGNC HGNC:18190 protein_coding YES CCDS30952.1 ENSP00000344129 Q5T619 UPI0000161414 NM_001009992.1 tolerated(0.62) benign(0.02) 2/2 PROSITE_profiles:PS50157,hmmpanther:PTHR45320,Gene3D:2.40.155.10,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 182056768 IQCJ-SCHIP1 . GRCh38 chr3 159764901 159764901 + Missense_Mutation SNP T T G novel 7316-2755 BS_TA48KCWF T T c.750T>G p.Cys250Trp p.C250W ENST00000485419 5/11 65 52 12 16 15 1 IQCJ-SCHIP1,missense_variant,p.Cys174Trp,ENST00000638749,NM_014575.3;IQCJ-SCHIP1,missense_variant,p.Cys250Trp,ENST00000485419,NM_001197113.1;IQCJ-SCHIP1,missense_variant,p.Cys174Trp,ENST00000412423,NM_001197107.1;IQCJ-SCHIP1,missense_variant,p.Cys147Trp,ENST00000460298,;IQCJ-SCHIP1,missense_variant,p.Cys223Trp,ENST00000476809,NM_001197114.1;IQCJ-SCHIP1,missense_variant,p.Cys147Trp,ENST00000640565,;IQCJ-SCHIP1,intron_variant,,ENST00000527095,NM_001197108.1;IQCJ-SCHIP1,upstream_gene_variant,,ENST00000638311,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000639298,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000639448,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000639631,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000639979,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000640015,;IQCJ-SCHIP1-AS1,downstream_gene_variant,,ENST00000460574,;IQCJ-SCHIP1-AS1,downstream_gene_variant,,ENST00000488247,;IQCJ-SCHIP1,downstream_gene_variant,,ENST00000639147,;,regulatory_region_variant,,ENSR00000161123,; G ENSG00000283154 ENST00000485419 Transcript missense_variant 919/2445 750/1692 250/563 C/W tgT/tgG 1 1 IQCJ-SCHIP1 HGNC HGNC:38842 protein_coding YES CCDS56289.1 ENSP00000420182 B3KU38 UPI0000E5AA62 NM_001197113.1 tolerated_low_confidence(0.17) benign(0.115) 5/11 Gene3D:1.20.5.340,hmmpanther:PTHR13103,hmmpanther:PTHR13103:SF3,mobidb-lite MODERATE 1 SNV 2 PASS GTT . . 159764901 MUC4 . GRCh38 chr3 195784151 195784151 + Missense_Mutation SNP G G C rs534762923 7316-2755 BS_TA48KCWF G G c.7429C>G p.His2477Asp p.H2477D ENST00000463781 2/25 32 20 11 22 21 0 MUC4,missense_variant,p.His2477Asp,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His2477Asp,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His2477Asp,ENST00000478156,;MUC4,missense_variant,p.His2477Asp,ENST00000466475,;MUC4,missense_variant,p.His2477Asp,ENST00000477756,;MUC4,missense_variant,p.His2477Asp,ENST00000477086,;MUC4,missense_variant,p.His2477Asp,ENST00000480843,;MUC4,missense_variant,p.His2477Asp,ENST00000462323,;MUC4,missense_variant,p.His2477Asp,ENST00000470451,;MUC4,missense_variant,p.His2477Asp,ENST00000479406,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 7889/17110 7429/16239 2477/5412 H/D Cac/Gac rs534762923,COSM2945465 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.8) benign(0.234) 2/25 mobidb-lite,hmmpanther:PTHR42668 0.0004 0.0008 0.001 0,1 MODERATE 1 SNV 5 0,1 1 PASS TGA . . 0.0001107 0.0002711 4.186e-05 1.671e-05 0.0005702 195784151 SEC24B . GRCh38 chr4 109433895 109433895 + Missense_Mutation SNP A A C novel 7316-2755 BS_TA48KCWF A A c.26A>C p.His9Pro p.H9P ENST00000504968 1/25 52 46 5 18 18 0 SEC24B,missense_variant,p.His9Pro,ENST00000265175,NM_006323.4,NM_001318085.1;SEC24B,missense_variant,p.His9Pro,ENST00000504968,NM_001300813.2;SEC24B,missense_variant,p.His9Pro,ENST00000399100,NM_001318086.1,NM_001042734.3;SEC24B-AS1,upstream_gene_variant,,ENST00000499359,;SEC24B-AS1,upstream_gene_variant,,ENST00000505895,;SEC24B-AS1,upstream_gene_variant,,ENST00000510971,;,regulatory_region_variant,,ENSR00000171830,; C ENSG00000138802 ENST00000504968 Transcript missense_variant 124/4066 26/3897 9/1298 H/P cAc/cCc 1 1 SEC24B HGNC HGNC:10704 protein_coding YES CCDS75179.1 ENSP00000428564 O95487 UPI000189A7A7 NM_001300813.2 deleterious_low_confidence(0) benign(0.068) 1/25 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 109433895 FAM120B . GRCh38 chr6 170318603 170318603 + Missense_Mutation SNP T T A rs9348265 7316-2755 BS_TA48KCWF T T c.1282T>A p.Ser428Thr p.S428T ENST00000537664 2/11 55 43 9 23 23 0 FAM120B,missense_variant,p.Ser405Thr,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Ser417Thr,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Ser428Thr,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; A ENSG00000112584 ENST00000537664 Transcript missense_variant 1367/3212 1282/2802 428/933 S/T Tca/Aca rs9348265,COSM3829704,COSM1634646 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(1) benign(0) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 0.0948 0.0416 0.1182 0.1617 0.0636 0.1135 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TTC . . 2.996e-05 7.578e-05 2.156e-05 8.492e-05 170318603 HOXA11 . GRCh38 chr7 27184595 27184595 + Missense_Mutation SNP T T G novel 7316-2755 BS_TA48KCWF T T c.550A>C p.Thr184Pro p.T184P ENST00000006015 1/2 58 47 10 21 19 2 HOXA11,missense_variant,p.Thr184Pro,ENST00000006015,NM_005523.5;HOXA11,missense_variant,p.Thr154Pro,ENST00000517402,;HOXA10,upstream_gene_variant,,ENST00000396344,;AC004080.3,upstream_gene_variant,,ENST00000470747,;AC004080.2,downstream_gene_variant,,ENST00000523331,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000520360,;HOXA11-AS,upstream_gene_variant,,ENST00000479766,;HOXA11-AS,upstream_gene_variant,,ENST00000520395,;HOXA11-AS,upstream_gene_variant,,ENST00000522674,;HOXA11-AS,upstream_gene_variant,,ENST00000522863,;RF02139,upstream_gene_variant,,ENST00000613383,;RF02137,upstream_gene_variant,,ENST00000613939,;RF02138,upstream_gene_variant,,ENST00000615604,;RF02142,upstream_gene_variant,,ENST00000620092,;RF02141,upstream_gene_variant,,ENST00000620211,;RF02140,upstream_gene_variant,,ENST00000620901,;,regulatory_region_variant,,ENSR00000209857,; G ENSG00000005073 ENST00000006015 Transcript missense_variant 622/2295 550/942 184/313 T/P Acg/Ccg 1 -1 HOXA11 HGNC HGNC:5101 protein_coding YES CCDS5411.1 ENSP00000006015 P31270 UPI000000D992 NM_005523.5 tolerated(0.33) benign(0.005) 1/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24326:SF125,hmmpanther:PTHR24326 MODERATE 1 SNV 1 1 PASS GTT . . 27184595 MOGAT3 . GRCh38 chr7 101195965 101195965 + Missense_Mutation SNP G G A novel 7316-2755 BS_TA48KCWF G G c.1007C>T p.Thr336Ile p.T336I ENST00000223114 7/7 58 37 20 20 20 0 MOGAT3,missense_variant,p.Thr336Ile,ENST00000223114,NM_178176.3;MOGAT3,synonymous_variant,p.His268=,ENST00000379423,NM_001287147.1;MOGAT3,3_prime_UTR_variant,,ENST00000440203,; A ENSG00000106384 ENST00000223114 Transcript missense_variant 1174/2132 1007/1026 336/341 T/I aCc/aTc 1 -1 MOGAT3 HGNC HGNC:23249 protein_coding YES CCDS5714.1 ENSP00000223114 Q86VF5 UPI00000622D1 NM_178176.3 tolerated(0.11) probably_damaging(0.972) 7/7 Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF36 MODERATE 1 SNV 1 PASS GGT . . 101195965 KMT2C . GRCh38 chr7 152229936 152229936 + Missense_Mutation SNP C C A rs28522267 7316-2755 BS_TA48KCWF C C c.2963G>T p.Cys988Phe p.C988F ENST00000262189 18/59 85 68 17 29 28 0 KMT2C,missense_variant,p.Cys988Phe,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Cys988Phe,ENST00000355193,;KMT2C,missense_variant,p.Cys144Phe,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,; A ENSG00000055609 ENST00000262189 Transcript missense_variant 3182/16862 2963/14736 988/4911 C/F tGt/tTt rs28522267,COSM150427,COSM150426 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 deleterious(0) probably_damaging(0.998) 18/59 Gene3D:3.30.40.10,PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903,cd15596 benign 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS ACA . . 0.1852 0.1527 0.2309 0.1432 0.2282 0.2877 0.1637 0.2093 0.1179 152229936 LINC01299 . GRCh38 chr8 65530616 65530617 + Splice_Region INS - - A rs549200652 7316-2755 BS_TA48KCWF - - n.2023-8dup ENST00000520902 71 45 15 21 16 0 LINC01299,splice_region_variant,,ENST00000520902,; A ENSG00000254081 ENST00000520902 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs549200652 1 -1 LINC01299 HGNC HGNC:27839 lincRNA YES 3/4 0.1474 0.0545 0.1671 0.25 0.1054 0.1963 LOW 1 insertion 2 PASS TCA . . 0.1967 0.1408 0.2344 0.132 0.3099 0.09714 0.1359 0.2325 0.2236 65530616 TTC39B . GRCh38 chr9 15307148 15307148 + Missense_Mutation SNP C C T rs952460069 7316-2755 BS_TA48KCWF C C c.176G>A p.Gly59Asp p.G59D ENST00000512701 1/20 48 31 12 17 17 0 TTC39B,missense_variant,p.Gly59Asp,ENST00000512701,NM_001168339.1,NM_152574.2;TTC39B,missense_variant,p.Gly59Asp,ENST00000380850,NM_001168340.1;TTC39B,missense_variant,p.Gly59Asp,ENST00000297615,NM_001168341.1;TTC39B,missense_variant,p.Gly21Asp,ENST00000506891,;TTC39B,non_coding_transcript_exon_variant,,ENST00000505732,;,regulatory_region_variant,,ENSR00000233379,; T ENSG00000155158 ENST00000512701 Transcript missense_variant 213/10483 176/2049 59/682 G/D gGt/gAt rs952460069 1 -1 TTC39B HGNC HGNC:23704 protein_coding YES CCDS6477.2 ENSP00000422496 Q5VTQ0 UPI0001BE810F NM_001168339.1,NM_152574.2 deleterious_low_confidence(0.03) probably_damaging(0.934) 1/20 MODERATE 1 SNV 2 PASS ACC . . 8.698e-06 3.076e-05 9.688e-06 15307148 PITRM1 . GRCh38 chr10 3172772 3172772 + Translation_Start_Site SNP T T G 7316-2755 BS_TA48KCWF T T c.1A>C p.Met1? p.M1? ENST00000380989 1/27 66 57 9 36 31 2 PITRM1,start_lost,p.Met1?,ENST00000380989,NM_001242307.1,NM_001347728.1;PITRM1,start_lost,p.Met1?,ENST00000224949,NM_014889.3;PITRM1,missense_variant,p.Asn3Thr,ENST00000451104,NM_001242309.1,NM_001347725.1;PITRM1-AS1,downstream_gene_variant,,ENST00000598280,;,regulatory_region_variant,,ENSR00000023501,; G ENSG00000107959 ENST00000380989 Transcript start_lost 70/3487 1/3117 1/1038 M/L Atg/Ctg COSM4137963,COSM4137962,COSM4137961 1 -1 PITRM1 HGNC HGNC:17663 protein_coding YES CCDS55699.1 ENSP00000370377 Q5JRX3 UPI00015E00B2 NM_001242307.1,NM_001347728.1 deleterious_low_confidence(0) benign(0.01) 1/27 1,1,1 HIGH 1 SNV 1 1,1,1 PASS ATT . . 3172772 MUC5B . GRCh38 chr11 1245486 1245486 + Missense_Mutation SNP T T C rs80150964 7316-2755 BS_TA48KCWF T T c.8606T>C p.Met2869Thr p.M2869T ENST00000529681 31/49 63 49 11 21 21 0 MUC5B,missense_variant,p.Met2869Thr,ENST00000529681,NM_002458.2;AC061979.1,intron_variant,,ENST00000532061,; C ENSG00000117983 ENST00000529681 Transcript missense_variant 8664/17911 8606/17289 2869/5762 M/T aTg/aCg rs80150964,COSM4591957,COSM4591956 1 1 MUC5B HGNC HGNC:7516 protein_coding YES CCDS44515.2 ENSP00000436812 Q9HC84 UPI0001DD21C7 NM_002458.2 tolerated(1) benign(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310 0.2284 0.2752 0.4812 0.2266 0.2771 benign 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS ATG . . 0.2027 0.178 0.2332 0.2196 0.5248 0.1083 0.1649 0.2026 0.2103 1245486 FADS2 . GRCh38 chr11 61828407 61828407 + Missense_Mutation SNP A A C novel 7316-2755 BS_TA48KCWF A A c.17A>C p.Asn6Thr p.N6T ENST00000278840 1/12 83 66 10 21 20 0 FADS2,missense_variant,p.Asn6Thr,ENST00000278840,NM_004265.3;FADS2,missense_variant,p.Asn6Thr,ENST00000521849,;FADS2,intron_variant,,ENST00000257261,NM_001281501.1;FADS1,intron_variant,,ENST00000421879,;FADS1,intron_variant,,ENST00000448607,;FADS2,intron_variant,,ENST00000517312,;FADS2,intron_variant,,ENST00000518606,;FADS2,intron_variant,,ENST00000522056,NM_001281502.1;FADS2,downstream_gene_variant,,ENST00000517839,;FADS2,downstream_gene_variant,,ENST00000522639,;FADS2,downstream_gene_variant,,ENST00000574708,;,regulatory_region_variant,,ENSR00000040343,; C ENSG00000134824 ENST00000278840 Transcript missense_variant 647/3630 17/1335 6/444 N/T aAc/aCc 1 1 FADS2 HGNC HGNC:3575 protein_coding YES CCDS8012.1 ENSP00000278840 O95864 UPI000003405E NM_004265.3 tolerated(0.39) benign(0.119) 1/12 PIRSF_domain:PIRSF015921 MODERATE 1 SNV 1 PASS AAC . . 61828407 AHNAK . GRCh38 chr11 62523775 62523775 + Missense_Mutation SNP T T A rs1335647135 7316-2755 BS_TA48KCWF T T c.10642A>T p.Ile3548Phe p.I3548F ENST00000378024 5/5 56 46 6 30 30 0 AHNAK,missense_variant,p.Ile3548Phe,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 10917/18787 10642/17673 3548/5890 I/F Att/Ttt rs1335647135,COSM4783357,COSM1355352 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.18) benign(0.232) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS ATG . . 62523775 AC068987.5 . GRCh38 chr12 51814364 51814364 + Missense_Mutation SNP A A C novel 7316-2755 BS_TA48KCWF A A c.530T>G p.Phe177Cys p.F177C ENST00000642069 1/1 58 50 7 20 19 1 AC068987.5,missense_variant,p.Phe177Cys,ENST00000642069,;SCN8A,downstream_gene_variant,,ENST00000354534,NM_014191.3,NM_001330260.1;SCN8A,downstream_gene_variant,,ENST00000545061,NM_001177984.2;FIGNL2,downstream_gene_variant,,ENST00000564840,NM_001013690.4;FIGNL2,downstream_gene_variant,,ENST00000618634,;AC068987.4,upstream_gene_variant,,ENST00000562343,;AC068987.2,upstream_gene_variant,,ENST00000565518,;AC068987.3,upstream_gene_variant,,ENST00000637934,;,regulatory_region_variant,,ENSR00000051928,;,TF_binding_site_variant,,MA0114.2,; C ENSG00000284730 ENST00000642069 Transcript missense_variant 563/987 530/954 177/317 F/C tTt/tGt 1 -1 AC068987.5 Clone_based_ensembl_gene protein_coding YES ENSP00000493167 P0DPE3 UPI000BAD59F0 tolerated(0.18) unknown(0) 1/1 Low_complexity_(Seg):seg MODERATE SNV PASS AAA . . 51814364 CCDC85C . GRCh38 chr14 99603479 99603479 + Missense_Mutation SNP T T G novel 7316-2755 BS_TA48KCWF T T c.481A>C p.Thr161Pro p.T161P ENST00000380243 1/6 53 44 7 34 33 1 CCDC85C,missense_variant,p.Thr161Pro,ENST00000380243,NM_001144995.1;AL160313.1,upstream_gene_variant,,ENST00000502101,;,regulatory_region_variant,,ENSR00000072980,; G ENSG00000205476 ENST00000380243 Transcript missense_variant 548/16393 481/1260 161/419 T/P Acg/Ccg 1 -1 CCDC85C HGNC HGNC:35459 protein_coding YES CCDS45161.1 ENSP00000369592 A6NKD9 UPI0000D62448 NM_001144995.1 tolerated(0.33) benign(0) 1/6 Pfam_domain:PF10226,hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF14,Low_complexity_(Seg):seg MODERATE SNV 5 PASS GTC . . 99603479 EXOC3L4 . GRCh38 chr14 103104012 103104012 + Missense_Mutation SNP T T G novel 7316-2755 BS_TA48KCWF T T c.1121T>G p.Val374Gly p.V374G ENST00000380069 3/11 64 53 8 23 21 0 EXOC3L4,missense_variant,p.Val374Gly,ENST00000380069,NM_001077594.1;EXOC3L4,missense_variant,p.Cys120Gly,ENST00000559116,;EXOC3L4,upstream_gene_variant,,ENST00000560304,;EXOC3L4,non_coding_transcript_exon_variant,,ENST00000560925,;EXOC3L4,non_coding_transcript_exon_variant,,ENST00000560102,;EXOC3L4,upstream_gene_variant,,ENST00000559661,;EXOC3L4,upstream_gene_variant,,ENST00000559693,;,regulatory_region_variant,,ENSR00000073491,; G ENSG00000205436 ENST00000380069 Transcript missense_variant 1197/2293 1121/2169 374/722 V/G gTg/gGg 1 1 EXOC3L4 HGNC HGNC:20120 protein_coding YES CCDS32163.1 ENSP00000369409 Q17RC7 UPI0000425FC1 NM_001077594.1 tolerated(0.33) benign(0.193) 3/11 hmmpanther:PTHR21292:SF14,hmmpanther:PTHR21292,Pfam_domain:PF06046 MODERATE 1 SNV 1 PASS GTG . . 103104012 AHNAK2 . GRCh38 chr14 104944754 104944754 + Missense_Mutation SNP G G A rs143814844 7316-2755 BS_TA48KCWF G G c.10697C>T p.Thr3566Met p.T3566M ENST00000333244 7/7 75 69 5 29 29 0 AHNAK2,missense_variant,p.Thr3566Met,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; A ENSG00000185567 ENST00000333244 Transcript missense_variant 10817/18254 10697/17388 3566/5795 T/M aCg/aTg rs143814844,COSM1128313 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.0733 0.267 0.0173 0.002 0.2116 0.001224 0,1 MODERATE 1 SNV 5 0,1 PASS CGT . . 0.01698 0.2332 0.01252 0.003253 0.0003498 0.0002691 0.0009093 0.007721 0.000659 104944754 AHNAK2 . GRCh38 chr14 104951782 104951782 + Missense_Mutation SNP G G C rs201187390 7316-2755 BS_TA48KCWF G G c.3669C>G p.His1223Gln p.H1223Q ENST00000333244 7/7 44 38 6 20 18 0 AHNAK2,missense_variant,p.His1223Gln,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; C ENSG00000185567 ENST00000333244 Transcript missense_variant 3789/18254 3669/17388 1223/5795 H/Q caC/caG rs201187390,COSM1607415 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.44) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.1923 0.0787 0.2334 0.0585 0.3439 0.2986 0,1 MODERATE 1 SNV 5 0,1 PASS CGT . . 0.02423 0.02572 0.01436 0.03712 0.004491 0.003341 0.03281 0.04198 0.02999 104951782 AC004233.2 . GRCh38 chr16 3000830 3000830 + Splice_Region SNP A A C novel 7316-2755 BS_TA48KCWF A A c.1531+3A>C ENST00000573315 65 57 6 26 23 0 AC004233.2,splice_region_variant,,ENST00000573315,;AC004233.1,downstream_gene_variant,,ENST00000570515,; C ENSG00000270168 ENST00000573315 Transcript splice_region_variant,intron_variant 1 1 AC004233.2 Clone_based_ensembl_gene protein_coding YES ENSP00000488558 A0A0J9YXV3 UPI00064546FC 33/34 LOW SNV 5 PASS TAA . . 3000830 KRTAP4-5 . GRCh38 chr17 41149562 41149562 + Missense_Mutation SNP T T G rs377168597 7316-2755 BS_TA48KCWF T T c.206A>C p.Tyr69Ser p.Y69S ENST00000343246 1/1 71 43 14 21 19 0 KRTAP4-5,missense_variant,p.Tyr69Ser,ENST00000343246,NM_033188.3; G ENSG00000198271 ENST00000343246 Transcript missense_variant 241/879 206/546 69/181 Y/S tAt/tCt rs377168597,COSM6305797 1 -1 KRTAP4-5 HGNC HGNC:18899 protein_coding YES CCDS32650.1 ENSP00000340546 Q9BYR2 UPI0000456AA3 NM_033188.3 tolerated(1) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF132,Pfam_domain:PF13885 0,1 MODERATE 1 SNV 0,1 PASS ATA . . 0.0001225 0.0001012 0.0003599 0.0003312 6.454e-05 0.0001546 41149562 QRICH2 . GRCh38 chr17 76292053 76292053 + Missense_Mutation SNP T T G novel 7316-2755 BS_TA48KCWF T T c.2176A>C p.Ile726Leu p.I726L ENST00000262765 4/19 90 70 10 28 26 0 QRICH2,missense_variant,p.Ile892Leu,ENST00000636395,;QRICH2,missense_variant,p.Ile726Leu,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; G ENSG00000129646 ENST00000262765 Transcript missense_variant 2356/5357 2176/4992 726/1663 I/L Atc/Ctc 1 -1 QRICH2 HGNC HGNC:25326 protein_coding YES CCDS32741.1 ENSP00000262765 Q9H0J4 UPI000006FECD NM_032134.2 deleterious(0.04) benign(0) 4/19 MODERATE 1 SNV 1 PASS ATC . . 76292053 RHBDF2 . GRCh38 chr17 76473324 76473324 + Missense_Mutation SNP A A C novel 7316-2755 BS_TA48KCWF A A c.1824T>G p.Cys608Trp p.C608W ENST00000313080 16/19 82 69 11 29 28 1 RHBDF2,missense_variant,p.Cys579Trp,ENST00000591885,NM_001005498.3;RHBDF2,missense_variant,p.Cys608Trp,ENST00000313080,NM_024599.5;AANAT,downstream_gene_variant,,ENST00000250615,NM_001166579.1;AANAT,downstream_gene_variant,,ENST00000392492,NM_001088.2;AANAT,downstream_gene_variant,,ENST00000585649,;RHBDF2,upstream_gene_variant,,ENST00000591860,;RHBDF2,non_coding_transcript_exon_variant,,ENST00000590168,;RHBDF2,downstream_gene_variant,,ENST00000587640,;AANAT,downstream_gene_variant,,ENST00000587798,;RHBDF2,downstream_gene_variant,,ENST00000589582,; C ENSG00000129667 ENST00000313080 Transcript missense_variant 2098/3582 1824/2571 608/856 C/W tgT/tgG 1 -1 RHBDF2 HGNC HGNC:20788 protein_coding YES CCDS32743.1 ENSP00000322775 Q6PJF5 UPI0000DBEF0D NM_024599.5 deleterious(0) probably_damaging(1) 16/19 Gene3D:1.20.1540.10,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF28 MODERATE 1 SNV 1 1 PASS CAC . . 76473324 MADCAM1 . GRCh38 chr19 501714 501714 + Missense_Mutation SNP C C A rs78071082 7316-2755 BS_TA48KCWF C C c.713C>A p.Pro238Gln p.P238Q ENST00000215637 4/5 57 37 11 22 17 0 MADCAM1,missense_variant,p.Pro19Gln,ENST00000587541,;MADCAM1,missense_variant,p.Pro238Gln,ENST00000215637,NM_130760.2;MADCAM1,missense_variant,p.Pro262Gln,ENST00000613880,;MADCAM1,missense_variant,p.Pro256Gln,ENST00000617201,;MADCAM1,missense_variant,p.Pro254Gln,ENST00000619333,;MADCAM1,missense_variant,p.Pro246Gln,ENST00000622462,;MADCAM1,missense_variant,p.Pro256Gln,ENST00000621286,;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.1,intron_variant,,ENST00000592413,;MADCAM1,downstream_gene_variant,,ENST00000622449,;,regulatory_region_variant,,ENSR00000286952,; A ENSG00000099866 ENST00000215637 Transcript missense_variant 759/1572 713/1149 238/382 P/Q cCg/cAg rs78071082,COSM4590975 1 1 MADCAM1 HGNC HGNC:6765 protein_coding YES CCDS12028.1 ENSP00000215637 Q13477 UPI000013C68F NM_130760.2 tolerated(0.33) benign(0.32) 4/5 hmmpanther:PTHR14162,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 2.556e-05 4.034e-05 0.0001258 2.139e-05 0.0002414 501714 RAX2 . GRCh38 chr19 3770836 3770836 + Missense_Mutation SNP T T G rs1002124313 7316-2755 BS_TA48KCWF T T c.340A>C p.Met114Leu p.M114L ENST00000555633 3/3 102 89 11 29 29 0 RAX2,missense_variant,p.Met114Leu,ENST00000555633,NM_001319074.1;RAX2,missense_variant,p.Met114Leu,ENST00000555978,NM_032753.3;MRPL54,downstream_gene_variant,,ENST00000330133,NM_172251.2;MRPL54,downstream_gene_variant,,ENST00000589174,;,regulatory_region_variant,,ENSR00000106111,; G ENSG00000173976 ENST00000555633 Transcript missense_variant 667/2414 340/555 114/184 M/L Atg/Ctg rs1002124313 1 -1 RAX2 HGNC HGNC:18286 protein_coding YES CCDS12112.1 ENSP00000450456 Q96IS3 UPI000006DD5E NM_001319074.1 tolerated(0.72) benign(0.003) 3/3 hmmpanther:PTHR24329:SF81,hmmpanther:PTHR24329 MODERATE 1 SNV 1 1 PASS ATG . . 3770836 ZNF442 . GRCh38 chr19 12350868 12350868 + Nonsense_Mutation SNP A A T novel 7316-2755 BS_TA48KCWF A A c.717T>A p.Cys239Ter p.C239* ENST00000242804 6/6 67 57 7 28 28 0 ZNF442,stop_gained,p.Cys239Ter,ENST00000242804,NM_030824.2;ZNF442,stop_gained,p.Cys170Ter,ENST00000438182,;ZNF442,stop_gained,p.Cys239Ter,ENST00000545749,;ZNF442,downstream_gene_variant,,ENST00000424168,;ZNF442,downstream_gene_variant,,ENST00000462995,; T ENSG00000198342 ENST00000242804 Transcript stop_gained 1300/6219 717/1884 239/627 C/* tgT/tgA 1 -1 ZNF442 HGNC HGNC:20877 protein_coding YES CCDS12271.1 ENSP00000242804 Q9H7R0 UPI000006D14F NM_030824.2 6/6 Gene3D:3.30.60.20,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF6,SMART_domains:SM00355,Superfamily_domains:SSF57667 HIGH 1 SNV 2 PASS TAC . . 12350868 ZNF714 . GRCh38 chr19 21117429 21117429 + Missense_Mutation SNP G G T novel 7316-2755 BS_TA48KCWF G G c.765G>T p.Lys255Asn p.K255N ENST00000456283 5/5 69 54 6 25 23 0 ZNF714,missense_variant,p.Lys255Asn,ENST00000456283,NM_182515.3;ZNF714,3_prime_UTR_variant,,ENST00000425625,;ZNF714,3_prime_UTR_variant,,ENST00000620627,;ZNF714,intron_variant,,ENST00000596053,;ZNF714,downstream_gene_variant,,ENST00000616183,;ZNF714,downstream_gene_variant,,ENST00000618008,;ZNF714,downstream_gene_variant,,ENST00000618422,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,missense_variant,p.Lys255Asn,ENST00000610902,;ZNF714,3_prime_UTR_variant,,ENST00000613286,;,regulatory_region_variant,,ENSR00000108327,; T ENSG00000160352 ENST00000456283 Transcript missense_variant 1090/6812 765/1668 255/555 K/N aaG/aaT 1 1 ZNF714 HGNC HGNC:27124 protein_coding YES CCDS54239.1 ENSP00000478345 A0A087WU35 UPI0001278283 NM_182515.3 deleterious(0.02) probably_damaging(0.999) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF104,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS AGC . . 21117429 PPP1R15A . GRCh38 chr19 48874289 48874289 + Missense_Mutation SNP A A C 7316-2755 BS_TA48KCWF A A c.1056A>C p.Glu352Asp p.E352D ENST00000200453 2/3 77 55 10 31 28 2 PPP1R15A,missense_variant,p.Glu352Asp,ENST00000200453,NM_014330.3;PPP1R15A,upstream_gene_variant,,ENST00000600406,;,regulatory_region_variant,,ENSR00000110793,; C ENSG00000087074 ENST00000200453 Transcript missense_variant 1325/2378 1056/2025 352/674 E/D gaA/gaC COSM5950828 1 1 PPP1R15A HGNC HGNC:14375 protein_coding YES CCDS12738.1 ENSP00000200453 O75807 UPI000006F652 NM_014330.3 tolerated(0.19) benign(0.132) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR16489,hmmpanther:PTHR16489:SF14 1 MODERATE 1 SNV 1 1 PASS AAG . . 48874289 VSIG10L . GRCh38 chr19 51340065 51340065 + Missense_Mutation SNP T T G novel 7316-2755 BS_TA48KCWF T T c.1424A>C p.Asn475Thr p.N475T ENST00000335624 4/10 82 69 11 30 29 0 VSIG10L,missense_variant,p.Asn475Thr,ENST00000335624,NM_001163922.1;AC008750.3,upstream_gene_variant,,ENST00000594311,;AC008750.3,upstream_gene_variant,,ENST00000601148,;VSIG10L,upstream_gene_variant,,ENST00000600663,;,regulatory_region_variant,,ENSR00000111162,; G ENSG00000186806 ENST00000335624 Transcript missense_variant 1424/3397 1424/2604 475/867 N/T aAc/aCc 1 -1 VSIG10L HGNC HGNC:27111 protein_coding YES CCDS54300.1 ENSP00000335623 Q86VR7 UPI00001D8188 NM_001163922.1 deleterious(0.02) benign(0.324) 4/10 Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR45259,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd00096 MODERATE 1 SNV 5 PASS GTT . . 51340065 ZNF28 . GRCh38 chr19 52800534 52800534 + Missense_Mutation SNP C C A 7316-2755 BS_TA48KCWF C C c.1311G>T p.Lys437Asn p.K437N ENST00000457749 4/4 61 46 10 27 26 0 ZNF28,missense_variant,p.Lys384Asn,ENST00000438150,;ZNF28,missense_variant,p.Lys437Asn,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Lys384Asn,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000596559,; A ENSG00000198538 ENST00000457749 Transcript missense_variant 1431/4556 1311/2157 437/718 K/N aaG/aaT COSM6829052,COSM6829051,COSM6829050 1 -1 ZNF28 HGNC HGNC:13073 protein_coding YES CCDS33093.2 ENSP00000397693 P17035 UPI00001D8190 NM_006969.3 deleterious(0.02) probably_damaging(0.996) 4/4 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF301,hmmpanther:PTHR24377:SF301,Superfamily_domains:SSF57667 1,1,1 MODERATE 1 SNV 1 1,1,1 PASS GCT . . 52800534 ZNF761 . GRCh38 chr19 53456655 53456655 + Missense_Mutation SNP A A T rs1249386279 7316-2755 BS_TA48KCWF A A c.2148A>T p.Lys716Asn p.K716N ENST00000432094 5/5 75 63 10 23 21 0 ZNF761,missense_variant,p.Lys716Asn,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.Lys716Asn,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; T ENSG00000160336 ENST00000432094 Transcript missense_variant 2455/4061 2148/2241 716/746 K/N aaA/aaT rs1249386279 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 deleterious(0.02) possibly_damaging(0.592) 5/5 Gene3D:2.20.25.10,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAC . . 53456655 LILRA1 . GRCh38 chr19 54594797 54594797 + Missense_Mutation SNP C C T rs1398564269 7316-2755 BS_TA48KCWF C C c.203C>T p.Pro68Leu p.P68L ENST00000251372 4/10 65 55 8 33 32 0 LILRA1,missense_variant,p.Pro68Leu,ENST00000453777,NM_001278318.1;LILRA1,missense_variant,p.Pro68Leu,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA2,downstream_gene_variant,,ENST00000251376,NM_001290271.1,NM_006866.3;AC245036.5,downstream_gene_variant,,ENST00000596330,;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,;,regulatory_region_variant,,ENSR00000111532,; T ENSG00000104974 ENST00000251372 Transcript missense_variant 385/1910 203/1470 68/489 P/L cCc/cTc rs1398564269 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(0.35) benign(0.02) 4/10 Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05751 MODERATE 1 SNV 1 PASS CCC . . 4.061e-06 8.952e-06 54594797 LRRN4 . GRCh38 chr20 6052333 6052333 + Missense_Mutation SNP T T G novel 7316-2755 BS_TA48KCWF T T c.467A>C p.Asn156Thr p.N156T ENST00000378858 2/5 95 80 13 36 35 0 LRRN4,missense_variant,p.Asn156Thr,ENST00000378858,NM_152611.4;,regulatory_region_variant,,ENSR00000134139,; G ENSG00000125872 ENST00000378858 Transcript missense_variant 692/2692 467/2223 156/740 N/T aAt/aCt 1 -1 LRRN4 HGNC HGNC:16208 protein_coding YES CCDS13097.1 ENSP00000368135 Q8WUT4 UPI000013CBD3 NM_152611.4 deleterious(0.02) probably_damaging(0.996) 2/5 Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF17,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS ATT . . 6052333 TP53INP2 . GRCh38 chr20 34705481 34705481 + Splice_Region SNP C C T rs890497372 7316-2755 BS_TA48KCWF C C c.-50+7C>T ENST00000374810 70 54 9 26 26 0 TP53INP2,splice_region_variant,,ENST00000374810,NM_021202.1,NM_001329429.1,NM_001329431.1;TP53INP2,splice_region_variant,,ENST00000414082,;TP53INP2,intron_variant,,ENST00000374809,NM_001329430.1;TP53INP2,intron_variant,,ENST00000451665,;NCOA6,intron_variant,,ENST00000628752,;NCOA6,intron_variant,,ENST00000434040,;NCOA6,intron_variant,,ENST00000593786,;,TF_binding_site_variant,,MA0478.1,;,TF_binding_site_variant,,MA0491.1,;,TF_binding_site_variant,,MA0478.1,;,TF_binding_site_variant,,MA0491.1,; T ENSG00000078804 ENST00000374810 Transcript splice_region_variant,intron_variant rs890497372 1 1 TP53INP2 HGNC HGNC:16104 protein_coding YES CCDS13240.1 ENSP00000363943 Q8IXH6 UPI0000074230 NM_021202.1,NM_001329429.1,NM_001329431.1 2/4 LOW 1 SNV 1 PASS TCA . . 34705481 SUSD2 . GRCh38 chr22 24183081 24183081 + Missense_Mutation SNP G G A rs62231981 7316-2755 BS_TA48KCWF G G c.101G>A p.Arg34His p.R34H ENST00000358321 2/15 105 94 11 46 46 0 SUSD2,missense_variant,p.Arg34His,ENST00000358321,NM_019601.3;CABIN1,downstream_gene_variant,,ENST00000263119,NM_012295.3;CABIN1,downstream_gene_variant,,ENST00000337989,;CABIN1,downstream_gene_variant,,ENST00000398319,NM_001199281.1;CABIN1,downstream_gene_variant,,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000617531,NM_001201429.1;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,; A ENSG00000099994 ENST00000358321 Transcript missense_variant 362/3404 101/2469 34/822 R/H cGc/cAc rs62231981,COSM1178084 1 1 SUSD2 HGNC HGNC:30667 protein_coding YES CCDS13824.1 ENSP00000351075 Q9UGT4 A0A140VJW3 UPI000006CC92 NM_019601.3 tolerated(0.08) benign(0.133) 2/15 PROSITE_profiles:PS50958,hmmpanther:PTHR13802:SF43,hmmpanther:PTHR13802,Pfam_domain:PF01033,Superfamily_domains:SSF90188 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.4722 0.3229 0.4827 0.4869 0.4767 0.4939 0.4844 0.4738 0.4554 24183081 CACNA1I . GRCh38 chr22 39661141 39661141 + Missense_Mutation SNP A A C novel 7316-2755 BS_TA48KCWF A A c.2732A>C p.Asn911Thr p.N911T ENST00000402142 16/37 67 58 8 33 32 0 CACNA1I,missense_variant,p.Asn911Thr,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Asn876Thr,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Asn911Thr,ENST00000401624,;CACNA1I,missense_variant,p.Asn876Thr,ENST00000407673,; C ENSG00000100346 ENST00000402142 Transcript missense_variant 2732/10004 2732/6672 911/2223 N/T aAt/aCt 1 1 CACNA1I HGNC HGNC:1396 protein_coding YES CCDS46710.1 ENSP00000385019 Q9P0X4 UPI000012727D NM_021096.3 deleterious(0.04) probably_damaging(0.989) 16/37 hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF209,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 39661141 ARSA . GRCh38 chr22 50625152 50625152 + Missense_Mutation SNP T T G novel 7316-2755 BS_TA48KCWF T T c.1523A>C p.His508Pro p.H508P ENST00000216124 8/8 81 69 9 31 29 1 ARSA,missense_variant,p.His508Pro,ENST00000216124,NM_000487.5;ARSA,missense_variant,p.His508Pro,ENST00000395621,NM_001085425.2;ARSA,missense_variant,p.His508Pro,ENST00000356098,NM_001085426.2;ARSA,missense_variant,p.His508Pro,ENST00000395619,NM_001085427.2;ARSA,missense_variant,p.His422Pro,ENST00000453344,NM_001085428.2;ARSA,upstream_gene_variant,,ENST00000610191,;ARSA,intron_variant,,ENST00000608497,;ARSA,downstream_gene_variant,,ENST00000551731,; G ENSG00000100299 ENST00000216124 Transcript missense_variant 1916/2050 1523/1530 508/509 H/P cAt/cCt 1 -1 ARSA HGNC HGNC:713 protein_coding YES CCDS14100.2 ENSP00000216124 A0A0C4DFZ2 UPI000013C6C4 NM_000487.5 tolerated_low_confidence(0.11) benign(0) 8/8 MODERATE 1 SNV 1 1 PASS ATG . . 50625152 AC245047.8 . GRCh38 chrX 48277081 48277081 + Splice_Region DEL A A - novel 7316-2755 BS_TA48KCWF A A n.70-5del ENST00000456455 55 43 5 19 19 0 AC245047.8,splice_region_variant,,ENST00000456455,;AC245047.4,upstream_gene_variant,,ENST00000433189,;AC245047.6,upstream_gene_variant,,ENST00000445444,; - ENSG00000241207 ENST00000456455 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AC245047.8 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/2 LOW 1 deletion PASS ACAA . . 48277080 MT-ND5 . GRCh38 chrM 13708 13708 + Missense_Mutation SNP G G A rs28359178 7316-2755 BS_TA48KCWF G G c.1372G>A p.Ala458Thr p.A458T ENST00000361567 1/1 15128 11961 2484 2724 2585 8 MT-ND5,missense_variant,p.Ala458Thr,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339371,;,TF_binding_site_variant,,PB0020.1,; A ENSG00000198786 ENST00000361567 Transcript missense_variant 1372/1812 1372/1812 458/603 A/T Gca/Aca rs28359178 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D tolerated_low_confidence(0.19) benign(0) 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF06455,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974,Transmembrane_helices:TMhelix 19387457,1732158,1900003,7635294,20301353,1417830,1764087,25925750 MODERATE 1 SNV 1 1 PASS GGC . . 13708 SLC35E2A . GRCh38 chr1 1734736 1734736 + Missense_Mutation SNP C C T rs61777509 7316-449 BS_Z56904ZW C C c.686G>A p.Arg229His p.R229H ENST00000643905 5/6 60 47 13 19 19 0 SLC35E2A,missense_variant,p.Arg229His,ENST00000643905,NM_182838.2;SLC35E2A,missense_variant,p.Arg229His,ENST00000355439,NM_001199787.1;AL031282.2,non_coding_transcript_exon_variant,,ENST00000598846,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000647043,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000246421,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000475229,;AL031282.1,intron_variant,,ENST00000424604,;AL031282.1,intron_variant,,ENST00000577672,;AL031282.1,downstream_gene_variant,,ENST00000417099,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000643943,;AL031282.1,upstream_gene_variant,,ENST00000418950,; T ENSG00000215790 ENST00000643905 Transcript missense_variant 1109/6293 686/801 229/266 R/H cGt/cAt rs61777509,COSM4142977 1 -1 SLC35E2A HGNC HGNC:20863 protein_coding YES CCDS33.1 ENSP00000495949 UPI000006FA83 NM_182838.2 tolerated_low_confidence(0.23) possibly_damaging(0.477) 5/6 mobidb-lite,hmmpanther:PTHR44413,hmmpanther:PTHR44413:SF1 0,1 MODERATE SNV 0,1 PASS ACG . . 0.3075 0.08801 0.2931 0.3425 0.1221 0.4248 0.3581 0.3075 0.2544 1734736 FLG2 . GRCh38 chr1 152354719 152354719 + Missense_Mutation SNP T T A rs777953240 7316-449 BS_Z56904ZW T T c.3067A>T p.Thr1023Ser p.T1023S ENST00000388718 3/3 97 86 8 49 48 0 FLG2,missense_variant,p.Thr1023Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 3140/9124 3067/7176 1023/2391 T/S Act/Tct rs777953240 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0.003) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS GTT . . 4.062e-06 8.959e-06 152354719 CRNN . GRCh38 chr1 152410124 152410124 + Missense_Mutation SNP A A C 7316-449 BS_Z56904ZW A A c.958T>G p.Ser320Ala p.S320A ENST00000271835 3/3 74 47 15 38 35 3 CRNN,missense_variant,p.Ser320Ala,ENST00000271835,NM_016190.2;FLG-AS1,intron_variant,,ENST00000411804,;FLG-AS1,downstream_gene_variant,,ENST00000628475,; C ENSG00000143536 ENST00000271835 Transcript missense_variant 1021/1902 958/1488 320/495 S/A Tcc/Gcc COSM6198729 1 -1 CRNN HGNC HGNC:1230 protein_coding YES CCDS1010.1 ENSP00000271835 Q9UBG3 UPI000006E106 NM_016190.2 deleterious(0.05) benign(0.011) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11639:SF26,hmmpanther:PTHR11639 1 MODERATE 1 SNV 1 1 PASS GAC . . 152410124 USO1 . GRCh38 chr4 75801198 75801198 + Nonsense_Mutation SNP C C T novel 7316-449 BS_Z56904ZW C C c.2017C>T p.Gln673Ter p.Q673* ENST00000264904 19/26 86 81 5 33 33 0 USO1,stop_gained,p.Gln673Ter,ENST00000264904,NM_001290049.1;USO1,stop_gained,p.Gln662Ter,ENST00000514213,NM_003715.3;USO1,upstream_gene_variant,,ENST00000508454,; T ENSG00000138768 ENST00000264904 Transcript stop_gained,splice_region_variant 2239/4135 2017/2922 673/973 Q/* Cag/Tag 1 1 USO1 HGNC HGNC:30904 protein_coding YES CCDS77929.1 ENSP00000264904 O60763 UPI0001D1479E NM_001290049.1 19/26 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10013,Gene3D:1.20.5.170 HIGH 1 SNV 2 PASS GCA . . 75801198 TTC29 . GRCh38 chr4 146707554 146707554 + Splice_Region DEL A A - rs199560439 7316-449 BS_Z56904ZW A A c.1409-3del ENST00000513335 64 56 5 43 38 0 TTC29,splice_region_variant,,ENST00000398886,;TTC29,splice_region_variant,,ENST00000325106,NM_031956.3;TTC29,splice_region_variant,,ENST00000504425,NM_001317806.1;TTC29,splice_region_variant,,ENST00000513335,NM_001300761.2;TTC29,splice_region_variant,,ENST00000504272,;TTC29,splice_region_variant,,ENST00000508306,; - ENSG00000137473 ENST00000513335 Transcript splice_region_variant,intron_variant rs199560439,TMP_ESP_4_147628706_147628706,COSM4424682,COSM4424681 1 -1 TTC29 HGNC HGNC:29936 protein_coding YES CCDS75200.1 ENSP00000423505 G5E9Z5 UPI0000141581 NM_001300761.2 12/13 0.08654 0.1109 0,0,1,1 LOW 1 deletion 2 0,0,1,1 PASS CTAA . . 0.08628 0.06316 0.08534 0.08662 0.0351 0.0475 0.1069 0.08968 0.0669 146707553 ZNF117 . GRCh38 chr7 64978480 64978480 + Missense_Mutation SNP C C T rs534238909 7316-449 BS_Z56904ZW C C c.1091G>A p.Gly364Glu p.G364E ENST00000282869 4/4 79 69 7 44 44 0 ZNF117,missense_variant,p.Gly364Glu,ENST00000282869,NM_015852.3;ZNF117,missense_variant,p.Gly364Glu,ENST00000620222,NM_001348050.1;ZNF117,intron_variant,,ENST00000610793,;ZNF117,downstream_gene_variant,,ENST00000487644,; T ENSG00000152926 ENST00000282869 Transcript missense_variant 2376/9080 1091/1452 364/483 G/E gGa/gAa rs534238909,COSM216070 1 -1 ZNF117 HGNC HGNC:12897 protein_coding YES CCDS43593.1 ENSP00000282869 Q03924 UPI000049E07A NM_015852.3 tolerated(1) benign(0) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF037113,PIRSF_domain:PIRSF037113,PIRSF_domain:PIRSF037113,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,hmmpanther:PTHR24384:SF134,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0026 0.0045 0.0029 0.005 0,1 MODERATE 1 SNV 1 0,1 PASS TCC . . 0.0001116 6.725e-05 0.001529 64978480 MYO15B . GRCh38 chr17 75589426 75589426 + Missense_Mutation SNP T T G rs189417677 7316-449 BS_Z56904ZW T T c.1369T>G p.Tyr457Asp p.Y457D ENST00000610510 1/63 56 35 16 35 29 2 MYO15B,missense_variant,p.Tyr457Asp,ENST00000610510,NM_001309242.1;MYO15B,missense_variant,p.Tyr457Asp,ENST00000645453,;MYO15B,upstream_gene_variant,,ENST00000578564,;MYO15B,upstream_gene_variant,,ENST00000582561,;MYO15B,missense_variant,p.Tyr457Asp,ENST00000621743,;MYO15B,missense_variant,p.Tyr457Asp,ENST00000619501,;MYO15B,missense_variant,p.Tyr457Asp,ENST00000584516,;MYO15B,upstream_gene_variant,,ENST00000581612,;MYO15B,upstream_gene_variant,,ENST00000581866,;,regulatory_region_variant,,ENSR00000098410,; G ENSG00000266714 ENST00000610510 Transcript missense_variant 1369/9195 1369/9195 457/3064 Y/D Tac/Gac rs189417677 1 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000488624 A0A0J9YY01 UPI00064546F0 NM_001309242.1 tolerated_low_confidence(0.2) unknown(0) 1/63 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTA . . 75589426 DNM2 . GRCh38 chr19 10797473 10797474 + Frame_Shift_Ins INS - - G rs1304183440 7316-449 BS_Z56904ZW - - c.1291dup p.Val431GlyfsTer52 p.V431Gfs*52 ENST00000389253 10/21 78 66 7 39 37 0 DNM2,frameshift_variant,p.Val431GlyfsTer52,ENST00000389253,NM_001005361.2;DNM2,frameshift_variant,p.Val431GlyfsTer52,ENST00000408974,NM_001005362.2;DNM2,frameshift_variant,p.Val183GlyfsTer52,ENST00000587830,;DNM2,intron_variant,,ENST00000355667,NM_001005360.2;DNM2,intron_variant,,ENST00000359692,NM_004945.3;DNM2,intron_variant,,ENST00000585892,NM_001190716.1;DNM2,downstream_gene_variant,,ENST00000587485,;DNM2,intron_variant,,ENST00000593220,;DNM2,upstream_gene_variant,,ENST00000587329,;DNM2,downstream_gene_variant,,ENST00000591701,; G ENSG00000079805 ENST00000389253 Transcript frameshift_variant 1402-1403/3581 1290-1291/2613 430-431/870 -/X -/G rs1304183440 1 1 DNM2 HGNC HGNC:2974 protein_coding YES CCDS45969.1 ENSP00000373905 P50570 UPI000049A626 NM_001005361.2 10/21 Pfam_domain:PF01031,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF23 HIGH 1 insertion 5 1 1 PASS TCG . . 0.0002157 6.692e-05 0.000869 0.0001028 0.0002409 7.259e-05 0.0007579 0.0002012 10797473 ZNF431 . GRCh38 chr19 21183514 21183514 + Missense_Mutation SNP T T A rs879217005 7316-449 BS_Z56904ZW T T c.1211T>A p.Val404Glu p.V404E ENST00000311048 5/5 94 80 12 53 50 1 ZNF431,missense_variant,p.Val404Glu,ENST00000311048,NM_133473.2,NM_001319127.1,NM_001319124.1;ZNF431,3_prime_UTR_variant,,ENST00000600692,NM_001319126.1;ZNF431,intron_variant,,ENST00000594425,;ZNF431,downstream_gene_variant,,ENST00000598331,;ZNF431,downstream_gene_variant,,ENST00000599296,;ZNF431,upstream_gene_variant,,ENST00000593426,;ZNF431,upstream_gene_variant,,ENST00000594821,; A ENSG00000196705 ENST00000311048 Transcript missense_variant 1355/13894 1211/1731 404/576 V/E gTg/gAg rs879217005,COSM5706918 1 1 ZNF431 HGNC HGNC:20809 protein_coding YES CCDS32979.1 ENSP00000308578 Q8TF32 A0A024R7Q8 UPI0000191EAC NM_133473.2,NM_001319127.1,NM_001319124.1 tolerated(1) benign(0) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF121,hmmpanther:PTHR24384:SF121,hmmpanther:PTHR24384:SF121,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 21183514 ZNF43 . GRCh38 chr19 21808664 21808664 + Missense_Mutation SNP A A T rs984464377 7316-449 BS_Z56904ZW A A c.1400T>A p.Val467Glu p.V467E ENST00000357491 4/4 80 66 9 44 42 0 ZNF43,missense_variant,p.Val452Glu,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Val467Glu,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Val452Glu,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Val452Glu,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Val458Glu,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 1534/5249 1400/2457 467/818 V/E gTa/gAa rs984464377,COSM5032190 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(1) benign(0) 4/4 Gene3D:2.20.28.30,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TAC . . 8.343e-06 9.101e-06 3.445e-05 21808664 CENPB . GRCh38 chr20 3785159 3785159 + Missense_Mutation SNP A A C rs1245669689 7316-449 BS_Z56904ZW A A c.1325T>G p.Leu442Trp p.L442W ENST00000379751 1/1 51 31 8 27 25 1 CENPB,missense_variant,p.Leu442Trp,ENST00000379751,NM_001810.5;CDC25B,upstream_gene_variant,,ENST00000344256,NM_001287516.1,NM_001287517.1;CDC25B,upstream_gene_variant,,ENST00000379598,NM_001287518.1;SPEF1,upstream_gene_variant,,ENST00000379756,NM_015417.4;SPEF1,upstream_gene_variant,,ENST00000463490,;SPEF1,upstream_gene_variant,,ENST00000471499,; C ENSG00000125817 ENST00000379751 Transcript missense_variant 1532/2840 1325/1800 442/599 L/W tTg/tGg rs1245669689,COSM5950716 1 -1 CENPB HGNC HGNC:1852 protein_coding YES CCDS13064.1 ENSP00000369075 P07199 UPI00001274F8 NM_001810.5 tolerated_low_confidence(0.19) benign(0.157) 1/1 Gene3D:2.130.10.10,hmmpanther:PTHR45553,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 0,1 PASS CAA . . 0.001421 0.001154 0.001043 0.0009777 0.005024 0.0001059 0.001561 0.00154 0.0008031 3785159 IVL . GRCh38 chr1 152911012 152911012 + Missense_Mutation SNP T T G novel 7316-217 BS_P3W89XQY T T c.1215T>G p.His405Gln p.H405Q ENST00000368764 2/2 97 77 10 37 36 0 IVL,missense_variant,p.His405Gln,ENST00000368764,NM_005547.2; G ENSG00000163207 ENST00000368764 Transcript missense_variant 1279/2153 1215/1758 405/585 H/Q caT/caG 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated(0.47) benign(0.112) 2/2 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00904,mobidb-lite MODERATE 1 SNV 2 PASS ATC . . 152911012 MUC4 . GRCh38 chr3 195781629 195781629 + Missense_Mutation SNP G G C rs971718665 7316-217 BS_P3W89XQY G G c.9951C>G p.Asp3317Glu p.D3317E ENST00000463781 2/25 35 21 8 20 17 0 MUC4,missense_variant,p.Asp3317Glu,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Asp3317Glu,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Asp3317Glu,ENST00000478156,;MUC4,missense_variant,p.Asp3317Glu,ENST00000466475,;MUC4,missense_variant,p.Asp3317Glu,ENST00000477756,;MUC4,missense_variant,p.Asp3317Glu,ENST00000477086,;MUC4,missense_variant,p.Asp3317Glu,ENST00000480843,;MUC4,missense_variant,p.Asp3317Glu,ENST00000462323,;MUC4,missense_variant,p.Asp3317Glu,ENST00000470451,;MUC4,missense_variant,p.Asp3317Glu,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 10411/17110 9951/16239 3317/5412 D/E gaC/gaG rs971718665,COSM149569 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.89) benign(0.428) 2/25 hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGT . . 0.001536 0.004423 0.0008681 0.002484 0.000428 0.001165 0.001543 0.00144 0.001802 195781629 MUC3A . GRCh38 chr7 100953223 100953223 + Missense_Mutation SNP A A G rs1383166202 7316-217 BS_P3W89XQY A A c.1444A>G p.Thr482Ala p.T482A ENST00000379458 2/12 108 87 12 47 42 0 MUC3A,missense_variant,p.Thr482Ala,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Thr482Ala,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 1514/11226 1444/9972 482/3323 T/A Acg/Gcg rs1383166202 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 tolerated_low_confidence(0.15) unknown(0) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAC . . 100953223 FRMPD2 . GRCh38 chr10 48175933 48175933 + Missense_Mutation SNP T T C rs74758262 7316-217 BS_P3W89XQY T T c.2902A>G p.Ile968Val p.I968V ENST00000374201 23/29 86 71 14 35 33 0 FRMPD2,missense_variant,p.Ile968Val,ENST00000374201,NM_001018071.3;FRMPD2,missense_variant,p.Ile943Val,ENST00000305531,NM_001318191.1;FRMPD2,missense_variant,p.Ile968Val,ENST00000636244,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000474573,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000463706,;FRMPD2,3_prime_UTR_variant,,ENST00000637395,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000635925,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000477710,;FRMPD2,downstream_gene_variant,,ENST00000486151,;FRMPD2,upstream_gene_variant,,ENST00000491130,NM_001042512.2; C ENSG00000170324 ENST00000374201 Transcript missense_variant 3205/4997 2902/3930 968/1309 I/V Att/Gtt rs74758262,COSM1734742 1 -1 FRMPD2 HGNC HGNC:28572 protein_coding YES CCDS31195.1 ENSP00000363317 Q68DX3 UPI0000D60F5F NM_001018071.3 tolerated(0.27) benign(0.046) 23/29 PROSITE_profiles:PS50106,cd00992,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF56,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 0.2407 0.08556 0.1813 0.2544 0.3246 0.2765 0.2443 0.2366 0.3202 48175933 ALDH6A1 . GRCh38 chr14 74067571 74067572 + Splice_Region INS - - A rs528185481 7316-217 BS_P3W89XQY - - c.853-3dup ENST00000553458 72 58 7 29 25 0 ALDH6A1,splice_region_variant,,ENST00000350259,NM_001278593.1;ALDH6A1,splice_region_variant,,ENST00000553458,NM_005589.3;ALDH6A1,splice_region_variant,,ENST00000555126,NM_001278594.1;BBOF1,downstream_gene_variant,,ENST00000394009,NM_025057.2;BBOF1,intron_variant,,ENST00000492026,;ALDH6A1,downstream_gene_variant,,ENST00000553814,;ALDH6A1,downstream_gene_variant,,ENST00000556852,;ALDH6A1,splice_region_variant,,ENST00000554501,;ALDH6A1,downstream_gene_variant,,ENST00000554231,; A ENSG00000119711 ENST00000553458 Transcript splice_region_variant,intron_variant rs528185481,TMP_ESP_14_74534275_74534275 1 -1 ALDH6A1 HGNC HGNC:7179 protein_coding YES CCDS9826.1 ENSP00000450436 Q02252 A0A024R6G4 UPI0000001610 NM_005589.3 7/11 0.0160 0.0575 0.0014 0.001 0.001 0.001 0.03565 0.001333 likely_benign LOW 1 insertion 1 1,0 1 PASS CTA . . 0.003861 0.0472 0.002746 0.001548 0.0001406 0.001665 0.0004389 0.002419 0.0001542 74067571 STAT5B . GRCh38 chr17 42218218 42218218 + Frame_Shift_Del DEL G G - rs764965457 7316-217 BS_P3W89XQY G G c.1102del p.Gln368ArgfsTer2 p.Q368Rfs*2 ENST00000293328 9/19 56 47 5 27 25 0 STAT5B,frameshift_variant,p.Gln368ArgfsTer2,ENST00000293328,NM_012448.3;STAT5B,non_coding_transcript_exon_variant,,ENST00000468312,;STAT5B,upstream_gene_variant,,ENST00000468496,;STAT5B,upstream_gene_variant,,ENST00000481517,; - ENSG00000173757 ENST00000293328 Transcript frameshift_variant 1271/5103 1102/2364 368/787 Q/X Cag/ag rs764965457,COSM1383343 1 -1 STAT5B HGNC HGNC:11367 protein_coding YES CCDS11423.1 ENSP00000293328 P51692 UPI000006F059 NM_012448.3 9/19 hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF39,Pfam_domain:PF02864,Gene3D:2.60.40.630,Superfamily_domains:SSF49417 0,1 HIGH 1 deletion 1 0,1 1 PASS CTGG . . 42218217 TUBB8P12 . GRCh38 chr18 49147 49147 + Missense_Mutation SNP G G A rs4413042 7316-217 BS_P3W89XQY G G c.148C>T p.His50Tyr p.H50Y ENST00000308911 2/4 53 44 8 20 20 0 TUBB8P12,missense_variant,p.His50Tyr,ENST00000308911,;AP001005.3,downstream_gene_variant,,ENST00000572530,;AP001005.3,downstream_gene_variant,,ENST00000575325,;TUBB8P12,upstream_gene_variant,,ENST00000594555,;AP001005.1,downstream_gene_variant,,ENST00000575066,; A ENSG00000173213 ENST00000308911 Transcript missense_variant 148/1335 148/1335 50/444 H/Y Cac/Tac rs4413042,COSM438199 1 -1 TUBB8P12 HGNC HGNC:24983 protein_coding YES ENSP00000496713 A6NNZ2 UPI000049DE76 tolerated_low_confidence(1) benign(0) 2/4 cd02187,hmmpanther:PTHR11588:SF256,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF00091,Superfamily_domains:SSF52490,SMART_domains:SM00864,Prints_domain:PR01163 0.3389 0.2625 0.3256 0.4742 0.2793 0.3732 0,1 MODERATE SNV 0,1 PASS TGC . . 0.1055 0.05676 0.09035 0.08311 0.1937 0.1363 0.09666 0.0879 0.16 49147 ADGRE2 . GRCh38 chr19 14766987 14766987 + Missense_Mutation SNP G G C rs12976472 7316-217 BS_P3W89XQY G G c.478C>G p.Leu160Val p.L160V ENST00000315576 6/21 49 30 17 28 26 1 ADGRE2,missense_variant,p.Leu160Val,ENST00000315576,NM_013447.3;ADGRE2,missense_variant,p.Leu160Val,ENST00000601345,;ADGRE2,missense_variant,p.Leu160Val,ENST00000596991,;ADGRE2,missense_variant,p.Leu160Val,ENST00000392965,NM_001271052.1;ADGRE2,missense_variant,p.Leu160Val,ENST00000594294,;ADGRE2,intron_variant,,ENST00000594076,;ADGRE2,intron_variant,,ENST00000595839,;ADGRE2,downstream_gene_variant,,ENST00000599423,;ADGRE2,downstream_gene_variant,,ENST00000601619,;ADGRE2,missense_variant,p.Leu53Val,ENST00000595208,;ADGRE2,missense_variant,p.Leu160Val,ENST00000392962,;ADGRE2,non_coding_transcript_exon_variant,,ENST00000360222,;ADGRE2,downstream_gene_variant,,ENST00000598500,; C ENSG00000127507 ENST00000315576 Transcript missense_variant 930/6767 478/2472 160/823 L/V Ctc/Gtc rs12976472,COSM3742780 1 -1 ADGRE2 HGNC HGNC:3337 protein_coding YES CCDS32935.1 ENSP00000319883 Q9UHX3 UPI000016393A NM_013447.3 tolerated(0.59) benign(0.046) 6/21 Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF328,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184 0.4002 0.2772 not_provided 0,1 MODERATE 1 SNV 1 0,1 1 PASS AGC . . 0.1384 0.3161 0.1652 0.09026 0.1475 0.08395 0.1607 0.1209 0.04348 14766987 IFI30 . GRCh38 chr19 18173877 18173879 + In_Frame_Del DEL GCT GCT - rs780480112 7316-217 BS_P3W89XQY GCT GCT c.49_51del p.Leu17del p.L17del ENST00000407280 1/7 70 56 6 27 24 0 IFI30,inframe_deletion,p.Leu17del,ENST00000407280,NM_006332.4;IFI30,inframe_deletion,p.Leu17del,ENST00000597802,;PIK3R2,downstream_gene_variant,,ENST00000222254,NM_005027.3;PIK3R2,downstream_gene_variant,,ENST00000617130,;AC007192.1,3_prime_UTR_variant,,ENST00000593731,;PIK3R2,downstream_gene_variant,,ENST00000426902,;PIK3R2,downstream_gene_variant,,ENST00000459743,;PIK3R2,downstream_gene_variant,,ENST00000464016,;IFI30,upstream_gene_variant,,ENST00000600463,;,regulatory_region_variant,,ENSR00000108024,; - ENSG00000216490 ENST00000407280 Transcript inframe_deletion 211-213/1134 36-38/753 12-13/250 PL/P ccGCTg/ccg rs780480112,COSM6458489 1 1 IFI30 HGNC HGNC:5398 protein_coding YES CCDS46015.1 ENSP00000384886 P13284 A0A024R7N7 UPI0000072A2B NM_006332.4 1/7 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13234,hmmpanther:PTHR13234:SF8 0,1 MODERATE 1 deletion 1 13 0,1 PASS CCGCTG . . 0.005216 0.008082 0.005561 0.002433 0.01277 0.003918 0.004368 0.005703 0.00475 18173876 TBC1D20 . GRCh38 chr20 439214 439214 + Nonsense_Mutation SNP G G A 7316-217 BS_P3W89XQY G G c.850C>T p.Gln284Ter p.Q284* ENST00000354200 7/8 67 58 7 26 26 0 TBC1D20,stop_gained,p.Gln284Ter,ENST00000354200,NM_144628.3;TBC1D20,non_coding_transcript_exon_variant,,ENST00000461188,;TBC1D20,non_coding_transcript_exon_variant,,ENST00000494633,;TBC1D20,stop_gained,p.Gln284Ter,ENST00000461304,;,regulatory_region_variant,,ENSR00000133427,; A ENSG00000125875 ENST00000354200 Transcript stop_gained 998/4466 850/1212 284/403 Q/* Cag/Tag COSM5622458 1 -1 TBC1D20 HGNC HGNC:16133 protein_coding YES CCDS13002.1 ENSP00000346139 Q96BZ9 UPI000006D549 NM_144628.3 7/8 hmmpanther:PTHR20913,hmmpanther:PTHR20913:SF10,Superfamily_domains:SSF47923 1 HIGH 1 SNV 1 1 1 PASS TGA . . 439214 PRAMEF17 . GRCh38 chr1 13391958 13391958 + Missense_Mutation SNP C C T rs201071276 7316-957 BS_6M3B3TKJ C C c.881C>T p.Pro294Leu p.P294L ENST00000376098 3/3 55 42 11 32 31 0 PRAMEF17,missense_variant,p.Pro294Leu,ENST00000376098,NM_001099851.3; T ENSG00000204479 ENST00000376098 Transcript missense_variant 907/1578 881/1425 294/474 P/L cCc/cTc rs201071276,COSM6397481 1 1 PRAMEF17 HGNC HGNC:29485 protein_coding YES CCDS41264.1 ENSP00000365266 Q5VTA0 UPI0000458AD3 NM_001099851.3 deleterious(0) benign(0.079) 3/3 hmmpanther:PTHR14224:SF32,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286,Gene3D:3.80.10.10,Superfamily_domains:SSF52047 0,1 MODERATE 1 SNV 1 0,1 PASS CCC . . 0.0002634 0.0008202 0.0004892 5.305e-05 0.0001987 0.0002634 0.0001635 13391958 ODF2L . GRCh38 chr1 86376421 86376421 + Splice_Region DEL A A - rs538815359 7316-957 BS_6M3B3TKJ A A c.625-3del ENST00000359242 67 55 5 40 40 0 ODF2L,splice_region_variant,,ENST00000294678,NM_020729.2;ODF2L,splice_region_variant,,ENST00000317336,NM_001007022.2;ODF2L,splice_region_variant,,ENST00000359242,;ODF2L,splice_region_variant,,ENST00000370566,NM_001184765.1,NM_001184766.1;ODF2L,splice_region_variant,,ENST00000460698,;ODF2L,splice_region_variant,,ENST00000479890,;ODF2L,upstream_gene_variant,,ENST00000524695,;ODF2L,splice_region_variant,,ENST00000472368,;ODF2L,splice_region_variant,,ENST00000488879,;ODF2L,splice_region_variant,,ENST00000496592,;ODF2L,upstream_gene_variant,,ENST00000486557,; - ENSG00000122417 ENST00000359242 Transcript splice_region_variant,intron_variant rs538815359,TMP_ESP_1_86842104_86842104,COSM4772793,COSM4772792,COSM4772791 1 -1 ODF2L HGNC HGNC:29225 protein_coding YES CCDS41354.2 ENSP00000359600 Q9ULJ1 UPI00001C1D6A 7/17 0.03684 0.02025 0,0,1,1,1 LOW 1 deletion 1 0,0,1,1,1 PASS CTAA . . 0.02644 0.04638 0.02365 0.0315 0.003163 0.03513 0.02167 0.02557 0.0421 86376420 IGFN1 . GRCh38 chr1 201209940 201209940 + Missense_Mutation SNP G G A rs199816935 7316-957 BS_6M3B3TKJ G G c.5047G>A p.Gly1683Arg p.G1683R ENST00000335211 12/24 71 50 16 32 30 0 IGFN1,missense_variant,p.Gly1683Arg,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; A ENSG00000163395 ENST00000335211 Transcript missense_variant 5177/11810 5047/11127 1683/3708 G/R Gga/Aga rs199816935,COSM4595087 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated_low_confidence(0.12) unknown(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 0.000975 0.007515 0.001579 0.0001391 0.0003258 0.000876 0.0003519 0.000106 201209940 OR2L3 . GRCh38 chr1 248061267 248061267 + Missense_Mutation SNP G G T rs75239130 7316-957 BS_6M3B3TKJ G G c.586G>T p.Gly196Cys p.G196C ENST00000641649 3/3 60 52 6 42 42 0 OR2L3,missense_variant,p.Gly196Cys,ENST00000641649,;OR2L3,missense_variant,p.Gly196Cys,ENST00000641161,NM_001004687.1;OR2L3,missense_variant,p.Gly196Cys,ENST00000359959,; T ENSG00000198128 ENST00000641649 Transcript missense_variant 706/2846 586/939 196/312 G/C Ggc/Tgc rs75239130,COSM4593936 1 1 OR2L3 HGNC HGNC:15009 protein_coding YES CCDS31104.1 ENSP00000493020 Q8NG85 UPI0000061EB8 tolerated(0.09) benign(0.009) 3/3 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF317,Superfamily_domains:SSF81321,cd15421 0,1 MODERATE 1 SNV 0,1 PASS GGG . . 0.342 0.1203 0.2582 0.3749 0.2383 0.4595 0.3895 0.3055 0.3583 248061267 ANKRD36C . GRCh38 chr2 95851754 95851754 + Missense_Mutation SNP A A C rs79392443 7316-957 BS_6M3B3TKJ A A c.5253T>G p.Ile1751Met p.I1751M ENST00000456556 66/67 70 57 11 50 50 0 ANKRD36C,missense_variant,p.Ile1751Met,ENST00000456556,NM_001310154.1;ANKRD36C,missense_variant,p.Ile110Met,ENST00000612359,;ANKRD36C,downstream_gene_variant,,ENST00000488721,;ANKRD36C,downstream_gene_variant,,ENST00000531153,; C ENSG00000174501 ENST00000456556 Transcript missense_variant 5338/5428 5253/5337 1751/1778 I/M atT/atG rs79392443,COSM5425153,COSM5425152,COSM5425151 1 -1 ANKRD36C HGNC HGNC:32946 protein_coding YES ENSP00000403302 Q5JPF3 UPI00016620F5 NM_001310154.1 deleterious(0.03) benign(0.142) 66/67 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS TAA . . 0.003127 0.002307 0.0007062 0.0003709 0.001367 0.01434 0.003766 0.001074 0.0005094 95851754 ANKRD36C . GRCh38 chr2 95851770 95851770 + Missense_Mutation SNP A A G rs74755605 7316-957 BS_6M3B3TKJ A A c.5237T>C p.Val1746Ala p.V1746A ENST00000456556 66/67 68 56 10 57 56 0 ANKRD36C,missense_variant,p.Val1746Ala,ENST00000456556,NM_001310154.1;ANKRD36C,missense_variant,p.Val105Ala,ENST00000612359,;ANKRD36C,downstream_gene_variant,,ENST00000488721,;ANKRD36C,downstream_gene_variant,,ENST00000531153,; G ENSG00000174501 ENST00000456556 Transcript missense_variant 5322/5428 5237/5337 1746/1778 V/A gTc/gCc rs74755605,COSM5425035,COSM5425034,COSM5425033 1 -1 ANKRD36C HGNC HGNC:32946 protein_coding YES ENSP00000403302 Q5JPF3 UPI00016620F5 NM_001310154.1 tolerated(1) benign(0) 66/67 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS GAC . . 0.01333 0.00624 0.0009946 0.001621 0.00351 0.08079 0.01582 0.003014 0.0004161 95851770 GAL3ST2 . GRCh38 chr2 241799079 241799081 + In_Frame_Del DEL TCC TCC - rs770375719 7316-957 BS_6M3B3TKJ TCC TCC c.57_59del p.Leu20del p.L20del ENST00000192314 2/4 62 49 5 40 38 0 GAL3ST2,inframe_deletion,p.Leu20del,ENST00000192314,NM_022134.2;AC131097.1,downstream_gene_variant,,ENST00000437438,;,regulatory_region_variant,,ENSR00000133333,;,TF_binding_site_variant,,PB0020.1,; - ENSG00000154252 ENST00000192314 Transcript inframe_deletion 175-177/1370 44-46/1197 15-16/398 IL/I aTCCtc/atc rs770375719,COSM1724530 1 1 GAL3ST2 HGNC HGNC:24869 protein_coding YES CCDS33427.1 ENSP00000192314 Q9H3Q3 UPI000049DF44 NM_022134.2 2/4 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14647:SF55,hmmpanther:PTHR14647,Pfam_domain:PF06990 0,1 MODERATE 1 deletion 1 13 0,1 PASS CATCCT . . 1.635e-05 0.0001391 0.0001831 241799078 SDHAP1 . GRCh38 chr3 195965548 195965548 + Splice_Region SNP C C G rs77887672 7316-957 BS_6M3B3TKJ C C n.2090-6G>C ENST00000427841 74 62 12 38 36 0 SDHAP1,splice_region_variant,,ENST00000427149,;SDHAP1,splice_region_variant,,ENST00000427841,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000354559,;SDHAP1,splice_region_variant,,ENST00000440850,; G ENSG00000185485 ENST00000427841 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs77887672 1 -1 SDHAP1 HGNC HGNC:32455 processed_transcript YES 14/16 LOW 1 SNV 2 PASS GCC . . 0.2694 0.077 0.3264 0.3112 0.3106 0.332 0.2487 0.2608 0.2906 195965548 SLC9B1 . GRCh38 chr4 102905600 102905600 + Missense_Mutation SNP T T C rs879081874 7316-957 BS_6M3B3TKJ T T c.1246A>G p.Thr416Ala p.T416A ENST00000296422 11/12 91 77 14 45 45 0 SLC9B1,missense_variant,p.Thr416Ala,ENST00000296422,NM_139173.3;SLC9B1,missense_variant,p.Thr416Ala,ENST00000394789,NM_001100874.2;SLC9B1,downstream_gene_variant,,ENST00000511253,;SLC9B1,intron_variant,,ENST00000509614,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,downstream_gene_variant,,ENST00000510243,; C ENSG00000164037 ENST00000296422 Transcript missense_variant 1388/1879 1246/1548 416/515 T/A Aca/Gca rs879081874,COSM3733506 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 deleterious(0.05) benign(0.246) 11/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.0001455 0.0006806 0.0001849 0.0001027 0.0003015 9.131e-05 9.977e-05 102905600 HLA-C . GRCh38 chr6 31271766 31271766 + Missense_Mutation SNP C C T rs1050428 7316-957 BS_6M3B3TKJ C C c.176G>A p.Arg59Gln p.R59Q ENST00000376228 2/8 36 29 7 23 22 1 HLA-C,missense_variant,p.Arg59Gln,ENST00000383329,;HLA-C,missense_variant,p.Arg59Gln,ENST00000376228,NM_002117.5;HLA-C,missense_variant,p.Arg59Gln,ENST00000415537,;HLA-C,intron_variant,,ENST00000640219,;HLA-B,intron_variant,,ENST00000640615,;HLA-C,missense_variant,p.Arg59Gln,ENST00000376237,;HLA-C,non_coding_transcript_exon_variant,,ENST00000487245,;HLA-C,non_coding_transcript_exon_variant,,ENST00000495835,;HLA-C,non_coding_transcript_exon_variant,,ENST00000484378,;HLA-C,upstream_gene_variant,,ENST00000466892,;HLA-C,upstream_gene_variant,,ENST00000470363,;,regulatory_region_variant,,ENSR00000195522,;USP8P1,upstream_gene_variant,,ENST00000494673,; T ENSG00000204525 ENST00000376228 Transcript missense_variant 191/1536 176/1101 59/366 R/Q cGg/cAg rs1050428,COSM4003924,COSM4003923,COSM4003922 1 -1 HLA-C HGNC HGNC:4933 protein_coding YES CCDS34393.1 ENSP00000365402 P10321 Q6R739 UPI000008AEBB NM_002117.5 deleterious_low_confidence(0.01) benign(0.027) 2/8 Gene3D:3.30.500.10,PDB-ENSP_mappings:5vge.A,Pfam_domain:PF00129,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF186,Superfamily_domains:SSF54452 0.0903 0.0628 0.1441 0.1022 0.1133 0.0532 0.07809 0.1267 0,1,1,1 MODERATE 1 SNV 0,1,1,1 1 PASS CCG . . 0.1017 0.07772 0.1307 0.1505 0.09743 0.05448 0.1198 0.1007 0.03812 31271766 KMT2C . GRCh38 chr7 152273771 152273771 + Missense_Mutation SNP T T A rs10454320 7316-957 BS_6M3B3TKJ T T c.946A>T p.Thr316Ser p.T316S ENST00000262189 7/59 94 54 37 50 48 2 KMT2C,missense_variant,p.Thr316Ser,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Thr316Ser,ENST00000355193,;KMT2C,missense_variant,p.Thr316Ser,ENST00000558084,; A ENSG00000055609 ENST00000262189 Transcript missense_variant 1165/16862 946/14736 316/4911 T/S Acc/Tcc rs10454320,COSM4162024,COSM4162023 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 tolerated(0.12) possibly_damaging(0.469) 7/59 Pfam_domain:PF13771,PROSITE_profiles:PS51805,SMART_domains:SM00249,cd15696 0,1,1 26014803 MODERATE 1 SNV 1 0,1,1 1 PASS GTG . . 0.5015 0.5031 0.5005 0.5001 0.5016 0.5016 0.5019 0.5018 0.5008 152273771 PDE7A . GRCh38 chr8 65782847 65782848 + Splice_Region INS - - A rs760862772 7316-957 BS_6M3B3TKJ - - c.139-5dup ENST00000401827 76 64 5 40 37 0 PDE7A,splice_region_variant,,ENST00000379419,NM_002603.3;PDE7A,splice_region_variant,,ENST00000396642,;PDE7A,splice_region_variant,,ENST00000401827,NM_001242318.2;PDE7A,splice_region_variant,,ENST00000523253,;PDE7A,splice_region_variant,,ENST00000519231,;PDE7A,splice_region_variant,,ENST00000519626,; A ENSG00000205268 ENST00000401827 Transcript splice_region_variant,intron_variant rs760862772 1 -1 PDE7A HGNC HGNC:8791 protein_coding YES CCDS56538.1 ENSP00000385632 Q13946 UPI0000127BFD NM_001242318.2 1/12 0.01151 0.01664 LOW 1 insertion 1 PASS AGA . . 0.003628 0.004304 0.005956 0.002417 0.005086 0.001336 0.003287 0.003763 0.003789 65782847 PABPC1 . GRCh38 chr8 100709611 100709611 + Missense_Mutation SNP C C A rs202074479 7316-957 BS_6M3B3TKJ C C c.1093G>T p.Val365Leu p.V365L ENST00000318607 8/15 60 48 8 51 51 0 PABPC1,missense_variant,p.Val365Leu,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Val320Leu,ENST00000519004,;PABPC1,missense_variant,p.Val333Leu,ENST00000522387,;PABPC1,missense_variant,p.Val340Leu,ENST00000610907,;PABPC1,missense_variant,p.Val234Leu,ENST00000519100,;PABPC1,intron_variant,,ENST00000517403,;PABPC1,upstream_gene_variant,,ENST00000517990,;PABPC1,upstream_gene_variant,,ENST00000518293,;PABPC1,upstream_gene_variant,,ENST00000520868,;PABPC1,upstream_gene_variant,,ENST00000522658,;PABPC1,downstream_gene_variant,,ENST00000523555,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519596,;PABPC1,missense_variant,p.Val56Leu,ENST00000523636,;PABPC1,3_prime_UTR_variant,,ENST00000519622,;PABPC1,non_coding_transcript_exon_variant,,ENST00000518716,;PABPC1,downstream_gene_variant,,ENST00000517921,;PABPC1,upstream_gene_variant,,ENST00000519848,; A ENSG00000070756 ENST00000318607 Transcript missense_variant 2222/3485 1093/1911 365/636 V/L Gta/Tta rs202074479,COSM4162563 1 -1 PABPC1 HGNC HGNC:8554 protein_coding YES CCDS6289.1 ENSP00000313007 P11940 A0A024R9C1 UPI0000000BC4 NM_002568.3 deleterious(0) possibly_damaging(0.587) 8/15 Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628,cd12381 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACA . . 0.121 0.1983 0.1069 0.08971 0.1749 0.1135 0.1116 0.1104 0.1347 100709611 SCRT1 . GRCh38 chr8 144333765 144333765 + Missense_Mutation SNP C C T novel 7316-957 BS_6M3B3TKJ C C c.467G>A p.Gly156Asp p.G156D ENST00000569446 2/2 54 49 5 39 39 0 SCRT1,missense_variant,p.Gly156Asp,ENST00000569446,NM_031309.5; T ENSG00000261678 ENST00000569446 Transcript missense_variant 579/3779 467/1047 156/348 G/D gGc/gAc 1 -1 SCRT1 HGNC HGNC:15950 protein_coding YES CCDS6421.1 ENSP00000455711 Q9BWW7 UPI0000457711 NM_031309.5 tolerated(0.62) benign(0.257) 2/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44270:SF1,hmmpanther:PTHR44270,Gene3D:3.30.160.60 MODERATE 1 SNV 1 PASS GCC . . 144333765 CNTNAP3 . GRCh38 chr9 39078875 39078875 + Missense_Mutation SNP C C T rs75217636 7316-957 BS_6M3B3TKJ C C c.3488G>A p.Gly1163Asp p.G1163D ENST00000297668 22/24 114 92 18 53 52 1 CNTNAP3,missense_variant,p.Gly1163Asp,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Gly1082Asp,ENST00000377656,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000477002,;CNTNAP3,intron_variant,,ENST00000493965,;,regulatory_region_variant,,ENSR00000235026,; T ENSG00000106714 ENST00000297668 Transcript missense_variant 3562/5064 3488/3867 1163/1288 G/D gGc/gAc rs75217636,COSM6305145 1 -1 CNTNAP3 HGNC HGNC:13834 protein_coding YES CCDS6616.1 ENSP00000297668 Q9BZ76 UPI000013E43B NM_033655.3 deleterious(0) probably_damaging(0.984) 22/24 PROSITE_profiles:PS50025,cd00110,hmmpanther:PTHR43925,hmmpanther:PTHR43925:SF6,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 39078875 ANKRD20A4 . GRCh38 chr9 64411223 64411223 + Missense_Mutation SNP T T G rs78815814 7316-957 BS_6M3B3TKJ T T c.1937T>G p.Met646Arg p.M646R ENST00000357336 15/15 75 61 13 32 32 0 ANKRD20A4,missense_variant,p.Met646Arg,ENST00000357336,NM_001098805.1; G ENSG00000172014 ENST00000357336 Transcript missense_variant 2218/4137 1937/2472 646/823 M/R aTg/aGg rs78815814,COSM1490069 1 1 ANKRD20A4 HGNC HGNC:31982 protein_coding YES CCDS43828.1 ENSP00000349891 Q4UJ75 UPI000051917A NM_001098805.1 deleterious(0) benign(0.02) 15/15 Gene3D:1.10.287.620,Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 0.09987 0.05519 0.04871 0.1067 0.02442 0.2393 0.1176 0.07536 0.07804 64411223 DDX11 . GRCh38 chr12 31094748 31094748 + Splice_Region SNP T T C rs61917225 7316-957 BS_6M3B3TKJ T T c.1415-7T>C ENST00000545668 48 39 9 29 29 0 DDX11,splice_region_variant,,ENST00000228264,NM_001257145.1;DDX11,splice_region_variant,,ENST00000350437,NM_004399.2;DDX11,splice_region_variant,,ENST00000542838,NM_030653.3;DDX11,splice_region_variant,,ENST00000545668,NM_152438.1,NM_001257144.1;DDX11,downstream_gene_variant,,ENST00000438391,;DDX11,splice_region_variant,,ENST00000539673,;DDX11,downstream_gene_variant,,ENST00000545717,;DDX11,splice_region_variant,,ENST00000435753,;DDX11,splice_region_variant,,ENST00000536265,;DDX11,splice_region_variant,,ENST00000536580,;DDX11,splice_region_variant,,ENST00000539049,;DDX11,splice_region_variant,,ENST00000543511,;DDX11,intron_variant,,ENST00000538345,;DDX11,downstream_gene_variant,,ENST00000535158,;DDX11,upstream_gene_variant,,ENST00000539699,;DDX11,downstream_gene_variant,,ENST00000540935,;DDX11,downstream_gene_variant,,ENST00000542129,;DDX11,upstream_gene_variant,,ENST00000542661,;DDX11,downstream_gene_variant,,ENST00000543026,; C ENSG00000013573 ENST00000545668 Transcript splice_region_variant,intron_variant rs61917225,COSM5021752,COSM5021751 1 1 DDX11 HGNC HGNC:2736 protein_coding YES CCDS44856.1 ENSP00000440402 Q96FC9 UPI000006F88F NM_152438.1,NM_001257144.1 13/26 0,1,1 LOW 1 SNV 1 0,1,1 1 PASS GTT . . 0.02667 0.02582 0.03839 0.01079 0.01177 0.07391 0.01893 0.01817 0.02385 31094748 HCAR3 . GRCh38 chr12 122715807 122715807 + Missense_Mutation SNP G G A rs200905183 7316-957 BS_6M3B3TKJ G G c.931C>T p.Arg311Cys p.R311C ENST00000528880 1/1 46 37 7 28 28 0 HCAR3,missense_variant,p.Arg311Cys,ENST00000528880,NM_006018.2;AC026333.3,non_coding_transcript_exon_variant,,ENST00000543611,;AC026333.3,downstream_gene_variant,,ENST00000545293,;,regulatory_region_variant,,ENSR00000058627,; A ENSG00000255398 ENST00000528880 Transcript missense_variant 1086/2137 931/1164 311/387 R/C Cgc/Tgc rs200905183,COSM4827876,COSM4827875,COSM4827874 1 -1 HCAR3 HGNC HGNC:16824 protein_coding YES CCDS53842.1 ENSP00000436714 P49019 UPI00001AFD35 NM_006018.2 tolerated(0.19) benign(0.015) 1/1 Gene3D:1.20.1070.10,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Superfamily_domains:SSF81321 0.03265 0.1651 0,1,1,1 MODERATE SNV 0,1,1,1 PASS CGG . . 0.1024 0.01843 0.09951 0.09859 0.000119 0.1454 0.1344 0.1052 0.05964 122715807 SKOR1 . GRCh38 chr15 67828080 67828082 + In_Frame_Del DEL GCG GCG - rs756238272 7316-957 BS_6M3B3TKJ GCG GCG c.1972_1974del p.Gly658del p.G658del ENST00000341418 8/15 76 64 7 39 35 0 SKOR1,inframe_deletion,p.Gly755del,ENST00000380035,;SKOR1,inframe_deletion,p.Gly727del,ENST00000554054,;SKOR1,inframe_deletion,p.Gly716del,ENST00000554240,;SKOR1,inframe_deletion,p.Gly658del,ENST00000341418,NM_001258024.1;AC009292.2,upstream_gene_variant,,ENST00000558889,;AC009292.2,upstream_gene_variant,,ENST00000560577,; - ENSG00000188779 ENST00000341418 Transcript inframe_deletion 1961-1963/3332 1961-1963/2607 654-655/868 SG/S aGCGgc/agc rs756238272 1 1 SKOR1 HGNC HGNC:21326 protein_coding YES CCDS58374.1 ENSP00000343200 P84550 UPI00001987EE NM_001258024.1 8/15 hmmpanther:PTHR10005,hmmpanther:PTHR10005:SF8,mobidb-lite,Low_complexity_(Seg):seg 0.00784 0.01239 MODERATE 1 deletion 1 11 PASS AAGCGG . . 0.004724 0.01442 0.005508 0.003295 0.008521 0.004534 0.004311 0.00263 0.00332 67828079 DGKE . GRCh38 chr17 56835181 56835181 + Missense_Mutation SNP G G A novel 7316-957 BS_6M3B3TKJ G G c.386G>A p.Arg129Gln p.R129Q ENST00000284061 2/12 57 28 25 32 32 0 DGKE,missense_variant,p.Arg129Gln,ENST00000284061,NM_003647.2;DGKE,missense_variant,p.Arg73Gln,ENST00000572944,;DGKE,missense_variant,p.Arg129Gln,ENST00000572810,;C17orf67,upstream_gene_variant,,ENST00000397861,NM_001085430.2;DGKE,non_coding_transcript_exon_variant,,ENST00000576869,;C17orf67,intron_variant,,ENST00000487705,; A ENSG00000153933 ENST00000284061 Transcript missense_variant 566/8660 386/1704 129/567 R/Q cGg/cAg 1 1 DGKE HGNC HGNC:2852 protein_coding YES CCDS11590.1 ENSP00000284061 P52429 A1L4Q0 UPI000012DD1F NM_003647.2 tolerated(0.05) possibly_damaging(0.781) 2/12 PROSITE_profiles:PS50081,cd00029,hmmpanther:PTHR11255:SF45,hmmpanther:PTHR11255,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,SMART_domains:SM00109,Superfamily_domains:SSF57889 MODERATE 1 SNV 1 1 PASS CGG . . 56835181 PRX . GRCh38 chr19 40394273 40394275 + In_Frame_Del DEL TCC TCC - rs139624657 7316-957 BS_6M3B3TKJ TCC TCC c.4077_4079del p.Glu1361del p.E1361del ENST00000324001 7/7 63 45 6 28 23 0 PRX,inframe_deletion,p.Glu1361del,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2;HIPK4,upstream_gene_variant,,ENST00000291823,NM_144685.4; - ENSG00000105227 ENST00000324001 Transcript inframe_deletion 4348-4350/4855 4077-4079/4386 1359-1360/1461 EE/E gaGGAa/gaa rs139624657,TMP_ESP_19_40900180_40900185,COSM1724622 1 -1 PRX HGNC HGNC:13797 protein_coding YES CCDS33028.1 ENSP00000326018 Q9BXM0 UPI000044CC1A NM_181882.2 7/7 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF42,mobidb-lite,Low_complexity_(Seg):seg 0.1213 0.1036 benign 0,0,1 MODERATE 1 deletion 1 1,0,1 1 PASS CTTCCT . . 0.07226 0.04718 0.3018 0.03979 0.01481 0.01666 0.0302 0.07589 0.05488 40394272 CYP2D6 . GRCh38 chr22 42127503 42127503 + Missense_Mutation SNP C C T rs61737946 7316-957 BS_6M3B3TKJ C C c.1117G>A p.Gly373Ser p.G373S ENST00000360608 7/9 55 42 9 50 49 0 CYP2D6,missense_variant,p.Gly370Ser,ENST00000389970,;CYP2D6,missense_variant,p.Gly373Ser,ENST00000360608,;CYP2D6,missense_variant,p.Gly373Ser,ENST00000645508,NM_000106.5;CYP2D6,missense_variant,p.Gly373Ser,ENST00000645361,;CYP2D6,missense_variant,p.Gly322Ser,ENST00000359033,NM_001025161.2;NDUFA6-DT,intron_variant,,ENST00000439129,;NDUFA6-DT,downstream_gene_variant,,ENST00000417327,;NDUFA6-DT,downstream_gene_variant,,ENST00000434834,;NDUFA6-DT,downstream_gene_variant,,ENST00000451451,;NDUFA6-DT,downstream_gene_variant,,ENST00000536447,;NDUFA6-DT,downstream_gene_variant,,ENST00000595777,;NDUFA6-DT,downstream_gene_variant,,ENST00000600968,;NDUFA6-DT,downstream_gene_variant,,ENST00000610250,;NDUFA6-DT,upstream_gene_variant,,ENST00000617009,;NDUFA6-DT,downstream_gene_variant,,ENST00000617396,;NDUFA6-DT,upstream_gene_variant,,ENST00000621190,;CYP2D6,3_prime_UTR_variant,,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-DT,downstream_gene_variant,,ENST00000547929,;NDUFA6-DT,downstream_gene_variant,,ENST00000608643,;NDUFA6-DT,downstream_gene_variant,,ENST00000609499,;NDUFA6-DT,downstream_gene_variant,,ENST00000609833,; T ENSG00000100197 ENST00000360608 Transcript missense_variant 1232/1684 1117/1494 373/497 G/S Ggt/Agt rs61737946,COSM3730230,COSM3730229 1 -1 CYP2D6 HGNC HGNC:2625 protein_coding YES CCDS46721.1 ENSP00000353820 P10635 C1ID52 UPI000015772B tolerated(0.23) benign(0.074) 7/9 hmmpanther:PTHR24300:SF1,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CCC . . 0.001653 0.004018 0.0004925 0.0002069 0.00169 0.003842 0.001634 0.0005803 0.001128 42127503 CYP2D6 . GRCh38 chr22 42127512 42127512 + Missense_Mutation SNP C C T rs61745683 7316-957 BS_6M3B3TKJ C C c.1108G>A p.Val370Ile p.V370I ENST00000360608 7/9 57 45 9 48 47 0 CYP2D6,missense_variant,p.Val367Ile,ENST00000389970,;CYP2D6,missense_variant,p.Val370Ile,ENST00000360608,;CYP2D6,missense_variant,p.Val370Ile,ENST00000645508,NM_000106.5;CYP2D6,missense_variant,p.Val370Ile,ENST00000645361,;CYP2D6,missense_variant,p.Val319Ile,ENST00000359033,NM_001025161.2;NDUFA6-DT,intron_variant,,ENST00000439129,;NDUFA6-DT,downstream_gene_variant,,ENST00000417327,;NDUFA6-DT,downstream_gene_variant,,ENST00000434834,;NDUFA6-DT,downstream_gene_variant,,ENST00000451451,;NDUFA6-DT,downstream_gene_variant,,ENST00000536447,;NDUFA6-DT,downstream_gene_variant,,ENST00000595777,;NDUFA6-DT,downstream_gene_variant,,ENST00000600968,;NDUFA6-DT,downstream_gene_variant,,ENST00000610250,;NDUFA6-DT,upstream_gene_variant,,ENST00000617009,;NDUFA6-DT,downstream_gene_variant,,ENST00000617396,;NDUFA6-DT,upstream_gene_variant,,ENST00000621190,;CYP2D6,3_prime_UTR_variant,,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-DT,downstream_gene_variant,,ENST00000547929,;NDUFA6-DT,downstream_gene_variant,,ENST00000608643,;NDUFA6-DT,downstream_gene_variant,,ENST00000609499,;NDUFA6-DT,downstream_gene_variant,,ENST00000609833,; T ENSG00000100197 ENST00000360608 Transcript missense_variant 1223/1684 1108/1494 370/497 V/I Gtc/Atc rs61745683,COSM4592638,COSM4592637 1 -1 CYP2D6 HGNC HGNC:2625 protein_coding YES CCDS46721.1 ENSP00000353820 P10635 C1ID52 UPI000015772B tolerated(0.87) benign(0.001) 7/9 hmmpanther:PTHR24300:SF1,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS ACG . . 0.0007372 0.002443 0.0003949 0.0009516 0.0007084 0.0007453 0.0001897 0.000503 42127512 PELI1 . GRCh38 chr2 64096618 64096618 + Splice_Region DEL A A - rs748132715 7316-3555 BS_GMJP7PN2 A A c.304-8del ENST00000358912 70 55 8 25 25 0 PELI1,splice_region_variant,,ENST00000358912,NM_020651.3;PELI1,downstream_gene_variant,,ENST00000466177,; - ENSG00000197329 ENST00000358912 Transcript splice_region_variant,intron_variant rs748132715,COSM3730651 1 -1 PELI1 HGNC HGNC:8827 protein_coding YES CCDS1876.1 ENSP00000351789 Q96FA3 Q53T26 UPI00000443B7 NM_020651.3 4/6 0,1 LOW 1 deletion 1 0,1 PASS GGAA . . 0.2342 0.2371 0.2846 0.2914 0.246 0.1943 0.2075 0.2561 0.2957 64096617 FIGN . GRCh38 chr2 163610809 163610810 + Frame_Shift_Ins INS - - GG rs1296999043 7316-3555 BS_GMJP7PN2 - - c.1022_1023insCC p.Gln341HisfsTer35 p.Q341Hfs*35 ENST00000333129 3/3 63 48 8 27 26 0 FIGN,frameshift_variant,p.Gln341HisfsTer35,ENST00000333129,NM_018086.3;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,; GG ENSG00000182263 ENST00000333129 Transcript frameshift_variant 1337-1338/9536 1022-1023/2280 341/759 Q/HX cag/caCCg rs1296999043 1 -1 FIGN HGNC HGNC:13285 protein_coding YES CCDS2221.2 ENSP00000333836 Q5HY92 UPI000022BD13 NM_018086.3 3/3 hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14,mobidb-lite HIGH 1 insertion 1 PASS TCT . . 163610809 FIGN . GRCh38 chr2 163610828 163610829 + Frame_Shift_Del DEL TT TT - rs1464392854 7316-3555 BS_GMJP7PN2 TT TT c.1003_1004del p.Asn335LeufsTer31 p.N335Lfs*31 ENST00000333129 3/3 65 53 10 27 26 0 FIGN,frameshift_variant,p.Asn335LeufsTer31,ENST00000333129,NM_018086.3;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,; - ENSG00000182263 ENST00000333129 Transcript frameshift_variant 1318-1319/9536 1003-1004/2280 335/759 N/X AAt/t rs1464392854 1 -1 FIGN HGNC HGNC:13285 protein_coding YES CCDS2221.2 ENSP00000333836 Q5HY92 UPI000022BD13 NM_018086.3 3/3 hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14 HIGH 1 deletion 1 PASS AATTT . . 163610827 HMGCR . GRCh38 chr5 75342776 75342776 + Splice_Region SNP T T G novel 7316-3555 BS_GMJP7PN2 T T c.165+6T>G ENST00000287936 51 32 19 27 26 0 HMGCR,splice_region_variant,,ENST00000287936,NM_000859.2;HMGCR,splice_region_variant,,ENST00000343975,NM_001130996.1;HMGCR,splice_region_variant,,ENST00000507942,;HMGCR,splice_region_variant,,ENST00000511206,;HMGCR,downstream_gene_variant,,ENST00000442032,;HMGCR,splice_region_variant,,ENST00000509431,; G ENSG00000113161 ENST00000287936 Transcript splice_region_variant,intron_variant 1 1 HMGCR HGNC HGNC:5006 protein_coding YES CCDS4027.1 ENSP00000287936 P04035 A0A024RAP2 UPI000012C9E2 NM_000859.2 2/19 LOW 1 SNV 1 PASS GTG . . 75342776 TTBK1 . GRCh38 chr6 43285191 43285191 + Missense_Mutation SNP T T C novel 7316-3555 BS_GMJP7PN2 T T c.3781T>C p.Ser1261Pro p.S1261P ENST00000259750 15/15 48 39 6 29 28 0 TTBK1,missense_variant,p.Ser1261Pro,ENST00000259750,NM_032538.1;,regulatory_region_variant,,ENSR00000197114,; C ENSG00000146216 ENST00000259750 Transcript missense_variant 3864/6932 3781/3966 1261/1321 S/P Tcc/Ccc 1 1 TTBK1 HGNC HGNC:19140 protein_coding YES CCDS34455.1 ENSP00000259750 Q5TCY1 UPI000041512B NM_032538.1 deleterious_low_confidence(0) benign(0.147) 15/15 mobidb-lite MODERATE 1 SNV 1 PASS CTC . . 43285191 HOXA4 . GRCh38 chr7 27129268 27129268 + Missense_Mutation SNP T T G novel 7316-3555 BS_GMJP7PN2 T T c.920A>C p.His307Pro p.H307P ENST00000360046 2/2 59 38 14 33 30 1 HOXA4,missense_variant,p.His307Pro,ENST00000360046,;HOXA4,missense_variant,p.His307Pro,ENST00000610970,NM_002141.4;HOXA4,missense_variant,p.His307Pro,ENST00000428284,;HOXA4,missense_variant,p.His127Pro,ENST00000511914,;HOXA3,intron_variant,,ENST00000317201,;HOXA3,intron_variant,,ENST00000522788,;HOXA3,upstream_gene_variant,,ENST00000612286,NM_153631.2;HOXA-AS2,intron_variant,,ENST00000521159,;HOXA-AS2,downstream_gene_variant,,ENST00000517550,;HOXA-AS3,upstream_gene_variant,,ENST00000518848,;HOXA-AS2,downstream_gene_variant,,ENST00000521687,;AC004080.6,non_coding_transcript_exon_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000518451,;HOXA3,intron_variant,,ENST00000521401,; G ENSG00000197576 ENST00000360046 Transcript missense_variant 986/1747 920/963 307/320 H/P cAc/cCc 1 -1 HOXA4 HGNC HGNC:5105 protein_coding YES CCDS5405.1 ENSP00000353151 Q00056 UPI000013C810 deleterious_low_confidence(0.03) benign(0.133) 2/2 hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF211,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 27129268 ZAN . GRCh38 chr7 100751991 100751991 + Missense_Mutation SNP T T C rs561745860 7316-3555 BS_GMJP7PN2 T T c.1886T>C p.Leu629Pro p.L629P ENST00000613979 14/48 47 39 6 30 29 0 ZAN,missense_variant,p.Leu629Pro,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Leu629Pro,ENST00000618565,;ZAN,missense_variant,p.Leu629Pro,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Leu629Pro,ENST00000546292,;ZAN,missense_variant,p.Leu629Pro,ENST00000542585,;ZAN,missense_variant,p.Leu629Pro,ENST00000538115,;ZAN,missense_variant,p.Leu629Pro,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,; C ENSG00000146839 ENST00000613979 Transcript missense_variant 2051/8669 1886/8439 629/2812 L/P cTc/cCc rs561745860,COSM3831309 1 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 A0A087WU49 UPI000441C79E NM_003386.2 tolerated(0.8) benign(0) 14/48 hmmpanther:PTHR11339:SF367,hmmpanther:PTHR11339,mobidb-lite 0.0018 0.0008 0.0029 0.004 0.002 0,1 MODERATE 1 SNV 1 0,1 PASS CTC . . 0.0003867 0.0002864 0.001005 0.0001062 0.001002 4.527e-05 0.0002354 0.0001999 0.0004188 100751991 ZSWIM8 . GRCh38 chr10 73797805 73797805 + Missense_Mutation SNP T T G novel 7316-3555 BS_GMJP7PN2 T T c.3687T>G p.Ser1229Arg p.S1229R ENST00000398706 19/26 67 54 7 43 41 1 ZSWIM8,missense_variant,p.Ser1229Arg,ENST00000604729,;ZSWIM8,missense_variant,p.Ser1229Arg,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Ser1224Arg,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Ser1191Arg,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Ser1224Arg,ENST00000604524,;ZSWIM8,missense_variant,p.Ser564Arg,ENST00000603187,;ZSWIM8,missense_variant,p.Ser499Arg,ENST00000412198,;ZSWIM8,missense_variant,p.Ser497Arg,ENST00000604754,;NDST2,downstream_gene_variant,,ENST00000299641,;NDST2,downstream_gene_variant,,ENST00000309979,NM_003635.3;NDST2,downstream_gene_variant,,ENST00000429742,;ZSWIM8,upstream_gene_variant,,ENST00000466354,;NDST2,downstream_gene_variant,,ENST00000639645,;ZSWIM8-AS1,intron_variant,,ENST00000456638,;ZSWIM8,downstream_gene_variant,,ENST00000425051,;ZSWIM8,downstream_gene_variant,,ENST00000431225,;ZSWIM8,upstream_gene_variant,,ENST00000466568,;ZSWIM8,downstream_gene_variant,,ENST00000487278,;ZSWIM8,downstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000603195,;ZSWIM8,upstream_gene_variant,,ENST00000603309,;ZSWIM8,upstream_gene_variant,,ENST00000603409,;ZSWIM8,upstream_gene_variant,,ENST00000603840,;ZSWIM8,upstream_gene_variant,,ENST00000604165,;ZSWIM8,missense_variant,p.Ser1224Ala,ENST00000433366,;ZSWIM8,intron_variant,,ENST00000492395,;AC022400.7,intron_variant,,ENST00000603027,;AC022400.7,intron_variant,,ENST00000603706,; G ENSG00000214655 ENST00000398706 Transcript missense_variant 3942/6062 3687/5529 1229/1842 S/R agT/agG 1 1 ZSWIM8 HGNC HGNC:23528 protein_coding YES CCDS44440.1 ENSP00000381693 A7E2V4 UPI0000ED938E NM_015037.3 tolerated(0.14) possibly_damaging(0.461) 19/26 hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF1,mobidb-lite MODERATE SNV 2 PASS GTC . . 73797805 TAS2R31 . GRCh38 chr12 11030706 11030706 + Missense_Mutation SNP C C G rs200367513 7316-3555 BS_GMJP7PN2 C C c.630G>C p.Gln210His p.Q210H ENST00000390675 1/1 69 60 7 46 46 0 TAS2R31,missense_variant,p.Gln210His,ENST00000390675,NM_176885.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; G ENSG00000256436 ENST00000390675 Transcript missense_variant 702/1021 630/930 210/309 Q/H caG/caC rs200367513,COSM4146577 1 -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538 UPI000000D820 NM_176885.2 deleterious(0.04) benign(0.208) 1/1 cd15027,hmmpanther:PTHR11394:SF79,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS GCT . . 11030706 FAM186A . GRCh38 chr12 50352532 50352532 + Missense_Mutation SNP T T G rs1374897011 7316-3555 BS_GMJP7PN2 T T c.4300A>C p.Thr1434Pro p.T1434P ENST00000327337 4/8 55 34 9 21 17 0 FAM186A,missense_variant,p.Thr1434Pro,ENST00000543111,;FAM186A,missense_variant,p.Thr1434Pro,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 4300/7127 4300/7056 1434/2351 T/P Act/Cct rs1374897011,COSM227585 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 deleterious(0.05) benign(0.006) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GTG . . 0.0005647 0.001018 0.001127 0.0001404 0.00407 0.0003905 0.001619 0.0002333 50352532 SERPINB10 . GRCh38 chr18 63917504 63917505 + Frame_Shift_Ins INS - - A rs201620640 7316-3555 BS_GMJP7PN2 - - c.226dup p.Arg76LysfsTer16 p.R76Kfs*16 ENST00000238508 3/8 63 51 6 50 46 0 SERPINB10,frameshift_variant,p.Arg76LysfsTer16,ENST00000238508,NM_005024.2;SERPINB10,frameshift_variant,p.Arg76LysfsTer16,ENST00000619595,;SERPINB10,downstream_gene_variant,,ENST00000397996,;SERPINB10,downstream_gene_variant,,ENST00000418725,; A ENSG00000242550 ENST00000238508 Transcript frameshift_variant 276-277/2122 217-218/1194 73/397 E/EX gaa/gAaa rs201620640,TMP_ESP_18_61584739_61584739 1 1 SERPINB10 HGNC HGNC:8942 protein_coding YES CCDS11990.1 ENSP00000238508 P48595 UPI000013558E NM_005024.2 3/8 cd02058,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF175,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574 0.009335 0.008227 HIGH 1 insertion 1 9 PASS TGA . . 0.001468 0.001942 0.002016 0.0008831 0.002525 0.0004259 0.00144 0.001787 0.001402 63917504 TIMM29 . GRCh38 chr19 10929514 10929514 + Missense_Mutation SNP G G A rs754501820 7316-3555 BS_GMJP7PN2 G G c.595G>A p.Val199Ile p.V199I ENST00000270502 2/2 67 46 21 41 41 0 TIMM29,missense_variant,p.Val199Ile,ENST00000270502,NM_138358.2;YIPF2,upstream_gene_variant,,ENST00000253031,;YIPF2,upstream_gene_variant,,ENST00000585858,;YIPF2,upstream_gene_variant,,ENST00000586575,;YIPF2,upstream_gene_variant,,ENST00000586748,NM_024029.4,NM_001321439.1;YIPF2,upstream_gene_variant,,ENST00000587943,;YIPF2,upstream_gene_variant,,ENST00000588347,;YIPF2,upstream_gene_variant,,ENST00000590329,NM_001321440.1;TIMM29,upstream_gene_variant,,ENST00000593162,;TIMM29,upstream_gene_variant,,ENST00000588807,;YIPF2,upstream_gene_variant,,ENST00000588962,;YIPF2,upstream_gene_variant,,ENST00000592505,;,regulatory_region_variant,,ENSR00000107110,; A ENSG00000142444 ENST00000270502 Transcript missense_variant 685/1425 595/783 199/260 V/I Gtc/Atc rs754501820 1 1 TIMM29 HGNC HGNC:25152 protein_coding YES CCDS12252.1 ENSP00000270502 Q9BSF4 UPI0000071552 NM_138358.2 tolerated(0.48) benign(0.009) 2/2 hmmpanther:PTHR21435 MODERATE 1 SNV 1 PASS GGT . . 4.104e-05 0.000298 10929514 MYO9B . GRCh38 chr19 17180968 17180968 + Missense_Mutation SNP C C T novel 7316-3555 BS_GMJP7PN2 C C c.2261C>T p.Pro754Leu p.P754L ENST00000595618 15/40 51 32 13 44 42 0 MYO9B,missense_variant,p.Pro754Leu,ENST00000595618,NM_001130065.1;MYO9B,missense_variant,p.Pro754Leu,ENST00000594824,NM_004145.3;MYO9B,missense_variant,p.Pro754Leu,ENST00000397274,;MYO9B,missense_variant,p.Pro754Leu,ENST00000595641,;MYO9B,intron_variant,,ENST00000594971,;MYO9B,intron_variant,,ENST00000602177,;AC020913.3,upstream_gene_variant,,ENST00000594678,;MYO9B,non_coding_transcript_exon_variant,,ENST00000601749,;MYO9B,non_coding_transcript_exon_variant,,ENST00000598101,;MYO9B,upstream_gene_variant,,ENST00000598464,;MYO9B,upstream_gene_variant,,ENST00000601490,; T ENSG00000099331 ENST00000595618 Transcript missense_variant 2413/7623 2261/6069 754/2022 P/L cCc/cTc 1 1 MYO9B HGNC HGNC:7609 protein_coding YES CCDS46010.1 ENSP00000471457 Q13459 UPI000020367C NM_001130065.1 tolerated(0.14) benign(0.031) 15/40 cd01385,SMART_domains:SM00242,PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF306,hmmpanther:PTHR13140 MODERATE 1 SNV 1 1 PASS CCC . . 17180968 RTEL1 . GRCh38 chr20 63674097 63674097 + Splice_Region SNP C C T rs201077722 7316-3555 BS_GMJP7PN2 C C c.919+4C>T ENST00000360203 70 54 12 47 44 0 RTEL1,splice_region_variant,,ENST00000318100,NM_001283010.1;RTEL1,splice_region_variant,,ENST00000360203,NM_001283009.1;RTEL1,splice_region_variant,,ENST00000370018,NM_016434.3;RTEL1,splice_region_variant,,ENST00000508582,NM_032957.4;RTEL1,downstream_gene_variant,,ENST00000356810,;RTEL1,downstream_gene_variant,,ENST00000463361,;RTEL1,splice_region_variant,,ENST00000482936,;RTEL1-TNFRSF6B,splice_region_variant,,ENST00000492259,; T ENSG00000258366 ENST00000360203 Transcript splice_region_variant,intron_variant rs201077722,COSM6026642,COSM6026641,COSM6026640 1 1 RTEL1 HGNC HGNC:15888 protein_coding YES CCDS63331.1 ENSP00000353332 Q9NZ71 UPI00002063E3 NM_001283009.1 10/34 0,1,1,1 LOW 1 SNV 5 0,1,1,1 1 PASS GCG . . 4.227e-06 9.322e-06 63674097 TRIOBP . GRCh38 chr22 37724169 37724171 + In_Frame_Del DEL CCT CCT - rs36219868 7316-3555 BS_GMJP7PN2 CCT CCT c.1617_1619del p.Ser540del p.S540del ENST00000406386 7/24 41 27 12 11 7 0 TRIOBP,inframe_deletion,p.Ser540del,ENST00000406386,NM_001039141.2;TRIOBP,inframe_deletion,p.Ser540del,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; - ENSG00000100106 ENST00000406386 Transcript inframe_deletion 1884-1886/10145 1613-1615/7098 538-539/2365 AS/A gCCTcc/gcc rs36219868,COSM111672 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271,hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271:SF10,mobidb-lite 0.2504 0.1362 0.2277 0.3651 0.2932 0.2587 0.1589 0.3354 0,1 MODERATE 1 deletion 5 4 0,1 1 PASS AGCCTC . . 0.08624 0.04638 0.06145 0.03366 0.2244 0.1331 0.09706 0.07966 0.03921 37724168 FMO5 . GRCh38 chr1 147225019 147225025 + Frame_Shift_Del DEL TTCTTAG TTCTTAG - rs1429079082 7316-391 BS_JEPRW1KE TTCTTAG TTCTTAG c.5_11del p.Thr2LysfsTer5 p.T2Kfs*5 ENST00000254090 2/9 81 71 9 38 38 0 FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000254090,NM_001461.3;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000369272,NM_001144830.2;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000578284,NM_001144829.2;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000441068,;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000533174,;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000533848,;FMO5,non_coding_transcript_exon_variant,,ENST00000478432,;AC242426.3,intron_variant,,ENST00000606856,;FMO5,frameshift_variant,p.Thr2LysfsTer5,ENST00000527849,;FMO5,non_coding_transcript_exon_variant,,ENST00000619062,;,regulatory_region_variant,,ENSR00000013082,;RPL7AP15,downstream_gene_variant,,ENST00000446956,; - ENSG00000131781 ENST00000254090 Transcript frameshift_variant 394-400/2632 5-11/1602 2-4/533 TKK/X aCTAAGAAa/aa rs1429079082 1 -1 FMO5 HGNC HGNC:3773 protein_coding YES CCDS926.1 ENSP00000254090 P49326 A0A024QYY6 UPI000013CE15 NM_001461.3 2/9 Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR00370,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF78,Superfamily_domains:SSF51905 HIGH 1 deletion 1 PASS TTTTCTTAGT . . 147225018 IVL . GRCh38 chr1 152910411 152910411 + Missense_Mutation SNP T T G 7316-391 BS_JEPRW1KE T T c.614T>G p.Leu205Arg p.L205R ENST00000368764 2/2 58 41 7 40 37 0 IVL,missense_variant,p.Leu205Arg,ENST00000368764,NM_005547.2; G ENSG00000163207 ENST00000368764 Transcript missense_variant 678/2153 614/1758 205/585 L/R cTc/cGc COSM5438244 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated(0.38) benign(0) 2/2 Pfam_domain:PF00904,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 2 1 PASS CTC . . 152910411 GOLGA4 . GRCh38 chr3 37295031 37295031 + Missense_Mutation SNP C C T novel 7316-391 BS_JEPRW1KE C C c.701C>T p.Ala234Val p.A234V ENST00000356847 7/23 77 69 6 47 47 0 GOLGA4,missense_variant,p.Ala212Val,ENST00000361924,NM_002078.4;GOLGA4,missense_variant,p.Ala234Val,ENST00000356847,NM_001172713.1;GOLGA4,missense_variant,p.Ala83Val,ENST00000437131,;GOLGA4,missense_variant,p.Ala217Val,ENST00000450863,;GOLGA4,missense_variant,p.Ala15Val,ENST00000617480,;GOLGA4,intron_variant,,ENST00000429018,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000435830,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000419177,; T ENSG00000144674 ENST00000356847 Transcript missense_variant 1000/7673 701/6732 234/2243 A/V gCa/gTa 1 1 GOLGA4 HGNC HGNC:4427 protein_coding YES CCDS54564.1 ENSP00000349305 Q13439 UPI000198C9CA NM_001172713.1 deleterious(0) probably_damaging(0.994) 7/23 Gene3D:1.20.1170.10,hmmpanther:PTHR19327 MODERATE 1 SNV 1 PASS GCA . . 37295031 OSTM1-AS1 . GRCh38 chr6 108123779 108123780 + Splice_Region DEL TG TG - rs5878968 7316-391 BS_JEPRW1KE TG TG n.143+22_143+23del ENST00000441184 73 59 6 41 35 0 OSTM1,intron_variant,,ENST00000440575,;OSTM1-AS1,splice_region_variant,,ENST00000441184,;OSTM1-AS1,intron_variant,,ENST00000426008,;OSTM1,intron_variant,,ENST00000492070,; - ENSG00000225174 ENST00000441184 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs5878968 1 1 OSTM1-AS1 HGNC HGNC:43666 lincRNA YES 1/1 0.4691 0.6354 0.4928 0.4782 0.338 0.3528 LOW 1 deletion 1 18 PASS TATGT . . 108123778 MUC17 . GRCh38 chr7 101033809 101033809 + Missense_Mutation SNP T T C rs775457824 7316-391 BS_JEPRW1KE T T c.2393T>C p.Ile798Thr p.I798T ENST00000306151 3/13 86 73 10 48 47 1 MUC17,missense_variant,p.Ile798Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile798Thr,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 2457/14247 2393/13482 798/4493 I/T aTc/aCc rs775457824,COSM6239762 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS ATC . . 4.067e-06 5.804e-05 101033809 SHB . GRCh38 chr9 38068528 38068528 + Missense_Mutation SNP G G A rs771324274 7316-391 BS_JEPRW1KE G G c.118C>T p.Pro40Ser p.P40S ENST00000377707 1/6 73 55 17 29 29 0 SHB,missense_variant,p.Pro40Ser,ENST00000377707,NM_003028.2;AL138752.2,missense_variant,p.Pro40Ser,ENST00000540557,;,regulatory_region_variant,,ENSR00000234949,; A ENSG00000107338 ENST00000377707 Transcript missense_variant 684/2783 118/1530 40/509 P/S Ccc/Tcc rs771324274 1 -1 SHB HGNC HGNC:10838 protein_coding YES CCDS43806.1 ENSP00000366936 Q15464 UPI000021143B NM_003028.2 deleterious_low_confidence(0) benign(0.003) 1/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15127:SF31,hmmpanther:PTHR15127 MODERATE 1 SNV 1 PASS GGC . . 7.115e-05 0.0003923 4.051e-05 38068528 SLC44A1 . GRCh38 chr9 105356234 105356234 + Missense_Mutation SNP C C T novel 7316-391 BS_JEPRW1KE C C c.523C>T p.Arg175Cys p.R175C ENST00000374720 6/16 73 44 27 49 48 1 SLC44A1,missense_variant,p.Arg175Cys,ENST00000374720,NM_080546.4;SLC44A1,missense_variant,p.Arg175Cys,ENST00000374723,NM_001286730.1;SLC44A1,missense_variant,p.Arg175Cys,ENST00000374724,;SLC44A1,missense_variant,p.Arg175Cys,ENST00000470972,;SLC44A1,non_coding_transcript_exon_variant,,ENST00000607701,; T ENSG00000070214 ENST00000374720 Transcript missense_variant 770/10511 523/1974 175/657 R/C Cgc/Tgc 1 1 SLC44A1 HGNC HGNC:18798 protein_coding YES CCDS6763.1 ENSP00000363852 Q8WWI5 A0A024R151 UPI0000062328 NM_080546.4 deleterious(0) probably_damaging(0.926) 6/16 hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF56 MODERATE 1 SNV 1 PASS TCG . . 105356234 KRT80 . GRCh38 chr12 52171721 52171721 + Splice_Region SNP T T G rs1172668590 7316-391 BS_JEPRW1KE T T c.1179-8A>C ENST00000394815 70 45 16 23 22 1 KRT80,splice_region_variant,,ENST00000313234,NM_001081492.1;KRT80,splice_region_variant,,ENST00000394815,NM_182507.2;LINC00592,intron_variant,,ENST00000640420,;KRT80,splice_region_variant,,ENST00000466011,; G ENSG00000167767 ENST00000394815 Transcript splice_region_variant,intron_variant rs1172668590 1 -1 KRT80 HGNC HGNC:27056 protein_coding YES CCDS8821.2 ENSP00000378292 Q6KB66 UPI0000160118 NM_182507.2 7/8 LOW 1 SNV 1 PASS GTG . . 0.002626 0.001727 0.005994 0.001057 0.003565 0.005141 0.002081 0.005566 0.001328 52171721 FAM214A . GRCh38 chr15 52658802 52658806 + Splice_Region DEL AAAAA AAAAA - rs564397373 7316-391 BS_JEPRW1KE AAAAA AAAAA c.17-9_17-5del ENST00000562351 66 7 18 27 7 0 FAM214A,splice_region_variant,,ENST00000562351,;FAM214A,intron_variant,,ENST00000261844,NM_019600.3;FAM214A,intron_variant,,ENST00000399202,;FAM214A,intron_variant,,ENST00000561490,;FAM214A,intron_variant,,ENST00000561543,;FAM214A,intron_variant,,ENST00000562135,;FAM214A,intron_variant,,ENST00000566768,;FAM214A,intron_variant,,ENST00000568863,;FAM214A,intron_variant,,ENST00000619572,;FAM214A,intron_variant,,ENST00000534964,; - ENSG00000047346 ENST00000562351 Transcript splice_region_variant,intron_variant rs564397373 1 -1 FAM214A HGNC HGNC:25609 protein_coding ENSP00000479280 A0A087WV94 UPI0004620DC4 2/2 0.739 0.6581 0.8242 0.5813 0.9115 0.773 LOW deletion 5 PASS ACAAAAAA . . 52658801 ZFPM1 . GRCh38 chr16 88534384 88534384 + Missense_Mutation SNP C C T rs75878389 7316-391 BS_JEPRW1KE C C c.2426C>T p.Pro809Leu p.P809L ENST00000319555 10/10 51 28 21 16 15 0 ZFPM1,missense_variant,p.Pro809Leu,ENST00000319555,NM_153813.2;AC116552.1,upstream_gene_variant,,ENST00000563243,;,regulatory_region_variant,,ENSR00000089533,; T ENSG00000179588 ENST00000319555 Transcript missense_variant 2748/5380 2426/3021 809/1006 P/L cCg/cTg rs75878389 1 1 ZFPM1 HGNC HGNC:19762 protein_coding YES CCDS32502.1 ENSP00000326630 Q8IX07 UPI000049DE26 NM_153813.2 tolerated(0.17) benign(0.011) 10/10 Gene3D:2.160.10.10,hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF4,mobidb-lite,Low_complexity_(Seg):seg 0.0899 0.0507 0.0605 0.1577 0.0338 0.1513 0.04556 0.02363 MODERATE 1 SNV 1 PASS CCG . . 0.07819 0.07139 0.1112 0.04688 0.1458 0.0677 0.04149 0.06997 0.1474 88534384 CCDC8 . GRCh38 chr19 46411682 46411682 + Missense_Mutation SNP A A C rs1222074491 7316-391 BS_JEPRW1KE A A c.1129T>G p.Ser377Ala p.S377A ENST00000307522 1/1 83 68 10 34 32 2 CCDC8,missense_variant,p.Ser377Ala,ENST00000307522,NM_032040.4; C ENSG00000169515 ENST00000307522 Transcript missense_variant 1903/3213 1129/1617 377/538 S/A Tca/Gca rs1222074491 1 -1 CCDC8 HGNC HGNC:25367 protein_coding YES CCDS12685.1 ENSP00000303158 Q9H0W5 UPI00000730F2 NM_032040.4 tolerated_low_confidence(1) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR23095:SF2,hmmpanther:PTHR23095 MODERATE 1 SNV 1 PASS GAC . . 46411682 MT-ND5 . GRCh38 chrM 13916 13916 + Missense_Mutation SNP G G A novel 7316-391 BS_JEPRW1KE G G c.1580G>A p.Gly527Glu p.G527E ENST00000361567 1/1 25294 22647 1968 6579 6444 8 MT-ND5,missense_variant,p.Gly527Glu,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339371,; A ENSG00000198786 ENST00000361567 Transcript missense_variant 1580/1812 1580/1812 527/603 G/E gGa/gAa 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D deleterious_low_confidence(0) probably_damaging(1) 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF06455,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2 MODERATE 1 SNV 1 PASS GGA . . 13916 MT-CYB . GRCh38 chrM 15444 15444 + Missense_Mutation SNP T T C novel 7316-391 BS_JEPRW1KE T T c.698T>C p.Leu233Pro p.L233P ENST00000361789 1/1 25262 19923 4728 6638 6489 36 MT-CYB,missense_variant,p.Leu233Pro,ENST00000361789,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND5,downstream_gene_variant,,ENST00000361567,;MT-ND6,upstream_gene_variant,,ENST00000361681,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,upstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339372,; C ENSG00000198727 ENST00000361789 Transcript missense_variant 698/1141 698/1141 233/380 L/P cTt/cCt 1 1 MT-CYB HGNC HGNC:7427 protein_coding YES ENSP00000354554 P00156 Q0ZFD6 UPI0000DA7DCA deleterious_low_confidence(0.01) possibly_damaging(0.855) 1/1 PDB-ENSP_mappings:5xte.J,PDB-ENSP_mappings:5xte.V,PDB-ENSP_mappings:5xth.AJ,PDB-ENSP_mappings:5xth.AV,PDB-ENSP_mappings:5xti.AJ,PDB-ENSP_mappings:5xti.AV,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS51003,cd00290,hmmpanther:PTHR19271,Gene3D:1.20.810.10,PIRSF_domain:PIRSF038885,Superfamily_domains:SSF81342 MODERATE 1 SNV 1 PASS CTT . . 15444 ZNF697 . GRCh38 chr1 119623115 119623115 + Missense_Mutation SNP T T G rs1299632821 7316-2669 BS_GNH80DDG T T c.1228A>C p.Met410Leu p.M410L ENST00000421812 3/3 56 43 11 49 48 0 ZNF697,missense_variant,p.Met410Leu,ENST00000421812,NM_001080470.1; G ENSG00000143067 ENST00000421812 Transcript missense_variant 1348/5041 1228/1638 410/545 M/L Atg/Ctg rs1299632821 1 -1 ZNF697 HGNC HGNC:32034 protein_coding YES CCDS44202.1 ENSP00000396857 Q5TEC3 UPI0000DD78D7 NM_001080470.1 tolerated(0.17) benign(0.294) 3/3 Gene3D:2.20.28.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR44153,hmmpanther:PTHR44153:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS ATG . . 119623115 C2CD4D . GRCh38 chr1 151838310 151838310 + Missense_Mutation SNP T T G novel 7316-2669 BS_GNH80DDG T T c.680A>C p.Tyr227Ser p.Y227S ENST00000454109 2/2 66 57 8 47 45 0 C2CD4D,missense_variant,p.Tyr227Ser,ENST00000454109,NM_001136003.1;RF00019,downstream_gene_variant,,ENST00000364264,;AL450992.2,upstream_gene_variant,,ENST00000434182,;,regulatory_region_variant,,ENSR00000013679,; G ENSG00000225556 ENST00000454109 Transcript missense_variant 1266/1757 680/1062 227/353 Y/S tAt/tCt 1 -1 C2CD4D HGNC HGNC:37210 protein_coding YES CCDS44224.1 ENSP00000389554 B7Z1M9 UPI0001747AE2 NM_001136003.1 deleterious(0) possibly_damaging(0.5) 2/2 Gene3D:2.60.40.150,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF179,Superfamily_domains:SSF49562 MODERATE 1 SNV 2 PASS ATA . . 151838310 TCHH . GRCh38 chr1 152108741 152108741 + Missense_Mutation SNP T T G 7316-2669 BS_GNH80DDG T T c.4476A>C p.Gln1492His p.Q1492H ENST00000614923 3/3 55 42 7 38 36 0 TCHH,missense_variant,p.Gln1492His,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Gln1492His,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 4571/6995 4476/5832 1492/1943 Q/H caA/caC COSM267557 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 deleterious_low_confidence(0) possibly_damaging(0.648) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 1 MODERATE 1 SNV 5 1 1 PASS GTT . . 152108741 FLG2 . GRCh38 chr1 152351673 152351673 + Missense_Mutation SNP C C A rs765378483 7316-2669 BS_GNH80DDG C C c.6113G>T p.Gly2038Val p.G2038V ENST00000388718 3/3 46 36 7 34 34 0 FLG2,missense_variant,p.Gly2038Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 6186/9124 6113/7176 2038/2391 G/V gGg/gTg rs765378483 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.3) benign(0.003) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487 MODERATE SNV 5 1 PASS CCC . . 2.043e-05 3.592e-05 3.28e-05 152351673 FLG2 . GRCh38 chr1 152353047 152353047 + Missense_Mutation SNP G G C rs1255250864 7316-2669 BS_GNH80DDG G G c.4739C>G p.Thr1580Ser p.T1580S ENST00000388718 3/3 73 59 12 56 54 1 FLG2,missense_variant,p.Thr1580Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 4812/9124 4739/7176 1580/2391 T/S aCt/aGt rs1255250864,COSM1295098 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS AGT . . 152353047 CRNN . GRCh38 chr1 152410223 152410223 + Missense_Mutation SNP C C T rs757228994 7316-2669 BS_GNH80DDG C C c.859G>A p.Ala287Thr p.A287T ENST00000271835 3/3 46 37 6 38 35 0 CRNN,missense_variant,p.Ala287Thr,ENST00000271835,NM_016190.2;FLG-AS1,intron_variant,,ENST00000411804,;FLG-AS1,downstream_gene_variant,,ENST00000628475,; T ENSG00000143536 ENST00000271835 Transcript missense_variant 922/1902 859/1488 287/495 A/T Gct/Act rs757228994 1 -1 CRNN HGNC HGNC:1230 protein_coding YES CCDS1010.1 ENSP00000271835 Q9UBG3 UPI000006E106 NM_016190.2 tolerated(0.41) benign(0.072) 3/3 mobidb-lite,hmmpanther:PTHR11639:SF26,hmmpanther:PTHR11639 MODERATE 1 SNV 1 PASS GCA . . 4.076e-06 3.26e-05 152410223 NR5A2 . GRCh38 chr1 200048167 200048167 + Splice_Region SNP A A C rs1489721916 7316-2669 BS_GNH80DDG A A c.464-5A>C ENST00000367362 60 47 11 35 34 0 NR5A2,splice_region_variant,,ENST00000236914,NM_003822.4;NR5A2,splice_region_variant,,ENST00000367357,;NR5A2,splice_region_variant,,ENST00000367362,NM_205860.2;NR5A2,splice_region_variant,,ENST00000544748,NM_001276464.1;NR5A2,downstream_gene_variant,,ENST00000474307,;,regulatory_region_variant,,ENSR00000017893,; C ENSG00000116833 ENST00000367362 Transcript splice_region_variant,intron_variant rs1489721916 1 1 NR5A2 HGNC HGNC:7984 protein_coding YES CCDS1401.1 ENSP00000356331 O00482 UPI0000130482 NM_205860.2 4/7 LOW 1 SNV 1 PASS CAA . . 4.294e-06 3.256e-05 200048167 IGFN1 . GRCh38 chr1 201211639 201211639 + Missense_Mutation SNP A A G rs1178151383 7316-2669 BS_GNH80DDG A A c.6746A>G p.Asp2249Gly p.D2249G ENST00000335211 12/24 39 27 6 27 26 0 IGFN1,missense_variant,p.Asp2249Gly,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6876/11810 6746/11127 2249/3708 D/G gAt/gGt rs1178151383,COSM4764345 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(1) benign(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS GAT . . 2.198e-05 0.0001227 0.0001001 1.795e-05 201211639 QPCT . GRCh38 chr2 37372477 37372478 + Splice_Region DEL TG TG - rs112031803 7316-2669 BS_GNH80DDG TG TG c.940+22_940+23del ENST00000338415 54 41 7 41 37 0 QPCT,splice_region_variant,,ENST00000338415,NM_012413.3;QPCT,splice_region_variant,,ENST00000404976,;QPCT,splice_region_variant,,ENST00000444022,;QPCT,splice_region_variant,,ENST00000469098,;QPCT,downstream_gene_variant,,ENST00000480050,; - ENSG00000115828 ENST00000338415 Transcript splice_region_variant,intron_variant rs112031803,TMP_ESP_2_37599620_37599621,COSM6035305,COSM3770358 1 1 QPCT HGNC HGNC:9753 protein_coding YES CCDS1790.1 ENSP00000344829 Q16769 UPI000000DC4F NM_012413.3 6/6 0.1411 0.1528 0,0,1,1 LOW 1 deletion 1 17 0,0,1,1 PASS AATGT . . 0.0225 0.00952 0.02274 0.03394 0.01338 0.02484 0.01964 0.02093 0.04115 37372476 ALMS1 . GRCh38 chr2 73450290 73450290 + Missense_Mutation SNP G G C rs777533263 7316-2669 BS_GNH80DDG G G c.3763G>C p.Asp1255His p.D1255H ENST00000613296 8/23 54 45 6 30 30 0 ALMS1,missense_variant,p.Asp1255His,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Asp1213His,ENST00000484298,;ALMS1,missense_variant,p.Asp1255His,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; C ENSG00000116127 ENST00000613296 Transcript missense_variant 3874/12925 3763/12507 1255/4168 D/H Gat/Cat rs777533263 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 deleterious(0.03) benign(0.029) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS AGA . . 8.151e-06 5.807e-05 8.999e-06 73450290 ALMS1 . GRCh38 chr2 73450294 73450294 + Missense_Mutation SNP A A G rs746710172 7316-2669 BS_GNH80DDG A A c.3767A>G p.Asn1256Ser p.N1256S ENST00000613296 8/23 56 46 6 32 32 0 ALMS1,missense_variant,p.Asn1256Ser,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Asn1214Ser,ENST00000484298,;ALMS1,missense_variant,p.Asn1256Ser,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; G ENSG00000116127 ENST00000613296 Transcript missense_variant 3878/12925 3767/12507 1256/4168 N/S aAt/aGt rs746710172 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 tolerated(1) benign(0) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS AAT . . 4.077e-06 8.995e-06 73450294 TGOLN2 . GRCh38 chr2 85327484 85327484 + Missense_Mutation SNP T T C rs1331637733 7316-2669 BS_GNH80DDG T T c.248A>G p.Lys83Arg p.K83R ENST00000409232 2/4 56 44 6 33 32 0 TGOLN2,missense_variant,p.Lys83Arg,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Lys83Arg,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Lys83Arg,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Lys83Arg,ENST00000409015,;TGOLN2,missense_variant,p.Lys83Arg,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Lys83Arg,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; C ENSG00000152291 ENST00000409232 Transcript missense_variant 310/2235 248/1362 83/453 K/R aAg/aGg rs1331637733,COSM4810921,COSM1293996 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(0.11) benign(0.007) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CTT . . 85327484 TGOLN2 . GRCh38 chr2 85327493 85327493 + Missense_Mutation SNP G G C rs1238981161 7316-2669 BS_GNH80DDG G G c.239C>G p.Thr80Ser p.T80S ENST00000409232 2/4 58 50 6 33 33 0 TGOLN2,missense_variant,p.Thr80Ser,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Thr80Ser,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000409015,;TGOLN2,missense_variant,p.Thr80Ser,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Thr80Ser,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; C ENSG00000152291 ENST00000409232 Transcript missense_variant 301/2235 239/1362 80/453 T/S aCc/aGc rs1238981161,COSM6288195,COSM1722795 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(1) benign(0) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGT . . 85327493 INPP4A . GRCh38 chr2 98445088 98445088 + Splice_Region SNP A A C novel 7316-2669 BS_GNH80DDG A A c.-166+3A>C ENST00000074304 51 43 5 52 51 0 INPP4A,splice_region_variant,,ENST00000074304,NM_001134224.1;INPP4A,splice_region_variant,,ENST00000409016,NM_004027.2;INPP4A,splice_region_variant,,ENST00000409463,;INPP4A,splice_region_variant,,ENST00000409540,NM_001566.2,NM_001351424.1;INPP4A,splice_region_variant,,ENST00000409851,NM_001134225.1;,regulatory_region_variant,,ENSR00000120457,; C ENSG00000040933 ENST00000074304 Transcript splice_region_variant,intron_variant 1 1 INPP4A HGNC HGNC:6074 protein_coding YES CCDS46369.1 ENSP00000074304 Q96PE3 UPI000006CD60 NM_001134224.1 1/25 LOW 1 SNV 5 1 PASS TAG . . 98445088 SP5 . GRCh38 chr2 170716860 170716860 + Missense_Mutation SNP A A C novel 7316-2669 BS_GNH80DDG A A c.653A>C p.His218Pro p.H218P ENST00000375281 2/2 49 40 7 43 42 0 SP5,missense_variant,p.His218Pro,ENST00000375281,NM_001003845.2;LINC01124,upstream_gene_variant,,ENST00000409786,;SP5,downstream_gene_variant,,ENST00000487037,;,regulatory_region_variant,,ENSR00000126115,; C ENSG00000204335 ENST00000375281 Transcript missense_variant 815/2033 653/1197 218/398 H/P cAc/cCc 1 1 SP5 HGNC HGNC:14529 protein_coding YES CCDS33322.1 ENSP00000364430 Q6BEB4 UPI000015C8D6 NM_001003845.2 tolerated(0.21) benign(0) 2/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF29,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 170716860 RBM5 . GRCh38 chr3 50118455 50118456 + Frame_Shift_Del DEL GA GA - rs112672304 7316-2669 BS_GNH80DDG GA GA c.*19_*20del ENST00000347869 25/25 62 47 8 39 33 0 RBM5,frameshift_variant,,ENST00000347869,NM_005778.3;SEMA3F-AS1,intron_variant,,ENST00000425674,;SEMA3F-AS1,intron_variant,,ENST00000437204,;RBM5,downstream_gene_variant,,ENST00000441812,;RBM5,downstream_gene_variant,,ENST00000474470,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000464988,;RBM5,downstream_gene_variant,,ENST00000461242,;RBM5,downstream_gene_variant,,ENST00000475128,;RBM5,downstream_gene_variant,,ENST00000475590,;RBM5,downstream_gene_variant,,ENST00000479275,;RBM5,downstream_gene_variant,,ENST00000492430,;RBM5,downstream_gene_variant,,ENST00000493993,; - ENSG00000003756 ENST00000347869 Transcript frameshift_variant,stop_lost 2622-2623/3188 2447-2448/2448 816/815 */X tGA/t rs112672304,COSM446742 1 1 RBM5 HGNC HGNC:9902 protein_coding YES CCDS2810.1 ENSP00000343054 P52756 A0A024R2U6 UPI000013337C NM_005778.3 25/25 0,1 HIGH 1 deletion 1 20 0,1 PASS GTGAG . . 0.3703 0.3833 0.2048 0.4303 0.417 0.3399 0.4031 0.3731 0.4404 50118454 ZPLD1 . GRCh38 chr3 102418056 102418056 + Splice_Region SNP A A T rs1028602795 7316-2669 BS_GNH80DDG A A c.-156-4A>T ENST00000491959 58 52 5 52 52 0 ZPLD1,splice_region_variant,,ENST00000491959,; T ENSG00000170044 ENST00000491959 Transcript splice_region_variant,intron_variant rs1028602795 1 1 ZPLD1 HGNC HGNC:27022 protein_coding ENSP00000420265 Q8TCW7 UPI0000209EBE 7/17 LOW 1 SNV 1 PASS TAA . . 102418056 H1FX . GRCh38 chr3 129315854 129315854 + Missense_Mutation SNP T T G novel 7316-2669 BS_GNH80DDG T T c.49A>C p.Met17Leu p.M17L ENST00000333762 1/1 70 55 14 30 30 0 H1FX,missense_variant,p.Met17Leu,ENST00000333762,NM_006026.3;H1FX-AS1,non_coding_transcript_exon_variant,,ENST00000511998,;H1FX-AS1,intron_variant,,ENST00000433902,;H1FX-AS1,upstream_gene_variant,,ENST00000383461,;H1FX-AS1,upstream_gene_variant,,ENST00000502789,;,regulatory_region_variant,,ENSR00000158211,; G ENSG00000184897 ENST00000333762 Transcript missense_variant 424/1507 49/642 17/213 M/L Atg/Ctg 1 -1 H1FX HGNC HGNC:4722 protein_coding YES CCDS3057.1 ENSP00000329662 Q92522 UPI000012BF2F NM_006026.3 tolerated(0.14) benign(0) 1/1 hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF21 MODERATE SNV PASS ATT . . 129315854 MUC4 . GRCh38 chr3 195780430 195780430 + Missense_Mutation SNP C C A 7316-2669 BS_GNH80DDG C C c.11150G>T p.Ser3717Ile p.S3717I ENST00000463781 2/25 56 45 6 68 64 0 MUC4,missense_variant,p.Ser3717Ile,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser3717Ile,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser3717Ile,ENST00000478156,;MUC4,missense_variant,p.Ser3717Ile,ENST00000466475,;MUC4,missense_variant,p.Ser3717Ile,ENST00000477756,;MUC4,missense_variant,p.Ser3717Ile,ENST00000477086,;MUC4,missense_variant,p.Ser3717Ile,ENST00000480843,;MUC4,missense_variant,p.Ser3717Ile,ENST00000462323,;MUC4,missense_variant,p.Ser3717Ile,ENST00000470451,;MUC4,missense_variant,p.Ser3717Ile,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 11610/17110 11150/16239 3717/5412 S/I aGc/aTc COSM4322062 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.09) benign(0.413) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS GCT . . 195780430 MUC4 . GRCh38 chr3 195784025 195784025 + Missense_Mutation SNP G G A rs747010184 7316-2669 BS_GNH80DDG G G c.7555C>T p.Pro2519Ser p.P2519S ENST00000463781 2/25 69 47 6 43 37 0 MUC4,missense_variant,p.Pro2519Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2519Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2519Ser,ENST00000478156,;MUC4,missense_variant,p.Pro2519Ser,ENST00000466475,;MUC4,missense_variant,p.Pro2519Ser,ENST00000477756,;MUC4,missense_variant,p.Pro2519Ser,ENST00000477086,;MUC4,missense_variant,p.Pro2519Ser,ENST00000480843,;MUC4,missense_variant,p.Pro2519Ser,ENST00000462323,;MUC4,missense_variant,p.Pro2519Ser,ENST00000470451,;MUC4,missense_variant,p.Pro2519Ser,ENST00000479406,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 8015/17110 7555/16239 2519/5412 P/S Ccc/Tcc rs747010184,COSM2945417 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.84) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGA . . 6.895e-05 0.000185 0.0001196 0.000533 4.383e-05 5.42e-05 195784025 MUC4 . GRCh38 chr3 195784786 195784786 + Missense_Mutation SNP A A C novel 7316-2669 BS_GNH80DDG A A c.6794T>G p.Val2265Gly p.V2265G ENST00000463781 2/25 75 53 6 60 52 0 MUC4,missense_variant,p.Val2265Gly,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Val2265Gly,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Val2265Gly,ENST00000478156,;MUC4,missense_variant,p.Val2265Gly,ENST00000466475,;MUC4,missense_variant,p.Val2265Gly,ENST00000477756,;MUC4,missense_variant,p.Val2265Gly,ENST00000477086,;MUC4,missense_variant,p.Val2265Gly,ENST00000480843,;MUC4,missense_variant,p.Val2265Gly,ENST00000462323,;MUC4,missense_variant,p.Val2265Gly,ENST00000470451,;MUC4,missense_variant,p.Val2265Gly,ENST00000479406,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 7254/17110 6794/16239 2265/5412 V/G gTg/gGg 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0) benign(0.316) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS CAC . . 195784786 ZNF732 . GRCh38 chr4 271544 271544 + Missense_Mutation SNP A A T rs369875361 7316-2669 BS_GNH80DDG A A c.1313T>A p.Ile438Lys p.I438K ENST00000419098 4/4 74 59 7 37 36 0 ZNF732,missense_variant,p.Ile438Lys,ENST00000419098,NM_001137608.1;ZNF732,missense_variant,p.Ile437Lys,ENST00000619749,;AC079140.5,upstream_gene_variant,,ENST00000507882,;AC079140.3,upstream_gene_variant,,ENST00000511111,; T ENSG00000186777 ENST00000419098 Transcript missense_variant 1324/2193 1313/1758 438/585 I/K aTa/aAa rs369875361,COSM4159014 1 -1 ZNF732 HGNC HGNC:37138 protein_coding YES CCDS46990.1 ENSP00000415774 B4DXR9 UPI00017A8291 NM_001137608.1 tolerated(0.89) benign(0.006) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF81,PROSITE_patterns:PS00028,Gene3D:2.30.30.380,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TAT . . 271544 ZNF732 . GRCh38 chr4 271563 271563 + Missense_Mutation SNP C C A rs1358664511 7316-2669 BS_GNH80DDG C C c.1294G>T p.Asp432Tyr p.D432Y ENST00000419098 4/4 79 65 8 40 40 0 ZNF732,missense_variant,p.Asp432Tyr,ENST00000419098,NM_001137608.1;ZNF732,missense_variant,p.Asp431Tyr,ENST00000619749,;AC079140.5,upstream_gene_variant,,ENST00000507882,;AC079140.3,upstream_gene_variant,,ENST00000511111,; A ENSG00000186777 ENST00000419098 Transcript missense_variant 1305/2193 1294/1758 432/585 D/Y Gac/Tac rs1358664511,COSM3133704 1 -1 ZNF732 HGNC HGNC:37138 protein_coding YES CCDS46990.1 ENSP00000415774 B4DXR9 UPI00017A8291 NM_001137608.1 tolerated(0.87) benign(0.352) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF81,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TCT . . 271563 OTOP1 . GRCh38 chr4 4226555 4226555 + Missense_Mutation SNP G G T rs200554408 7316-2669 BS_GNH80DDG G G c.310C>A p.Leu104Met p.L104M ENST00000296358 1/6 70 61 9 49 48 1 OTOP1,missense_variant,p.Leu104Met,ENST00000296358,NM_177998.1;,regulatory_region_variant,,ENSR00000165188,; T ENSG00000163982 ENST00000296358 Transcript missense_variant 335/1864 310/1839 104/612 L/M Ctg/Atg rs200554408 1 -1 OTOP1 HGNC HGNC:19656 protein_coding YES CCDS3372.1 ENSP00000296358 Q7RTM1 UPI0000186945 NM_177998.1 deleterious(0.04) benign(0.142) 1/6 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19 MODERATE 1 SNV 1 PASS AGC . . 2.288e-05 5.398e-05 4226555 MMRN1 . GRCh38 chr4 89951754 89951754 + Splice_Region DEL A A - rs201932336 7316-2669 BS_GNH80DDG A A c.3265+11del ENST00000394980 48 41 5 45 43 0 MMRN1,splice_region_variant,,ENST00000264790,NM_007351.2;MMRN1,splice_region_variant,,ENST00000394980,;MMRN1,splice_region_variant,,ENST00000508372,;MMRN1,splice_region_variant,,ENST00000506328,; - ENSG00000138722 ENST00000394980 Transcript splice_region_variant,intron_variant rs201932336,COSM1724137 1 1 MMRN1 HGNC HGNC:7178 protein_coding YES CCDS3635.1 ENSP00000378431 Q13201 UPI000013D570 8/8 0,1 LOW 1 deletion 5 8 0,1 PASS GTAA . . 0.001294 0.001441 0.002042 0.001079 0.002742 0.0004352 0.0009327 0.002414 0.001611 89951753 HLA-A . GRCh38 chr6 29942581 29942581 + Missense_Mutation SNP C C G rs1143146 7316-2669 BS_GNH80DDG C C c.28C>G p.Leu10Val p.L10V ENST00000396634 3/10 37 30 7 26 25 1 HLA-A,missense_variant,p.Leu10Val,ENST00000396634,;HLA-A,missense_variant,p.Leu10Val,ENST00000376806,;HLA-A,missense_variant,p.Leu10Val,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.Leu10Val,ENST00000376802,;HLA-A,missense_variant,p.Leu10Val,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;,regulatory_region_variant,,ENSR00000195346,;AL671277.1,non_coding_transcript_exon_variant,,ENST00000429656,; G ENSG00000206503 ENST00000396634 Transcript missense_variant 369/1868 28/1098 10/365 L/V Ctc/Gtc rs1143146,COSM5019102,COSM5019101 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D deleterious_low_confidence(0.01) benign(0.003) 3/10 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.5054 0.4743 0.5965 0.5397 0.5119 0.4407 0.4753 0.481 0,1,1 28955865 MODERATE 1 SNV 0,1,1 1 PASS CCT . . 0.4881 0.4682 0.5842 0.4622 0.5028 0.5087 0.481 0.4759 0.409 29942581 GPR6 . GRCh38 chr6 109979209 109979209 + Missense_Mutation SNP A A C novel 7316-2669 BS_GNH80DDG A A c.142A>C p.Thr48Pro p.T48P ENST00000414000 3/3 51 40 9 35 32 1 GPR6,missense_variant,p.Thr48Pro,ENST00000414000,NM_001286099.1;GPR6,missense_variant,p.Thr33Pro,ENST00000275169,NM_005284.4;,regulatory_region_variant,,ENSR00000322481,; C ENSG00000146360 ENST00000414000 Transcript missense_variant 436/1945 142/1134 48/377 T/P Acg/Ccg 1 1 GPR6 HGNC HGNC:4515 protein_coding YES CCDS69172.1 ENSP00000406986 P46095 UPI0001AE72E0 NM_001286099.1 tolerated_low_confidence(0.21) benign(0) 3/3 hmmpanther:PTHR22750:SF19,hmmpanther:PTHR22750,Prints_domain:PR00649 MODERATE 1 SNV 2 PASS CAC . . 109979209 NACAD . GRCh38 chr7 45083467 45083467 + Missense_Mutation SNP G G T rs756470140 7316-2669 BS_GNH80DDG G G c.2713C>A p.Pro905Thr p.P905T ENST00000490531 2/8 54 45 9 26 25 0 NACAD,missense_variant,p.Pro905Thr,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,; T ENSG00000136274 ENST00000490531 Transcript missense_variant 2733/4780 2713/4689 905/1562 P/T Cct/Act rs756470140,COSM4162235 1 -1 NACAD HGNC HGNC:22196 protein_coding YES CCDS47582.1 ENSP00000420477 O15069 UPI00001D747D NM_001146334.1 tolerated(0.2) benign(0.001) 2/8 hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF1,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS GGC . . 8.396e-05 0.0005556 0.0001187 8.902e-05 6.068e-05 5.457e-05 45083467 ZNF680 . GRCh38 chr7 64521301 64521301 + Missense_Mutation SNP C C A 7316-2669 BS_GNH80DDG C C c.1453G>T p.Ala485Ser p.A485S ENST00000309683 4/4 57 46 7 43 42 0 ZNF680,missense_variant,p.Ala485Ser,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,downstream_gene_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,; A ENSG00000173041 ENST00000309683 Transcript missense_variant 1605/3022 1453/1593 485/530 A/S Gct/Tct COSM4842996 1 -1 ZNF680 HGNC HGNC:26897 protein_coding YES CCDS34644.1 ENSP00000309330 Q8NEM1 UPI000019980A NM_178558.4 tolerated(0.16) benign(0.05) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF121,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS GCA . . 64521301 MUC17 . GRCh38 chr7 101032978 101032978 + Missense_Mutation SNP T T C rs781090187 7316-2669 BS_GNH80DDG T T c.1562T>C p.Met521Thr p.M521T ENST00000306151 3/13 75 56 7 36 35 1 MUC17,missense_variant,p.Met521Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Met521Thr,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 1626/14247 1562/13482 521/4493 M/T aTg/aCg rs781090187,COSM6278350 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 101032978 MUC17 . GRCh38 chr7 101034702 101034702 + Missense_Mutation SNP T T C rs762452745 7316-2669 BS_GNH80DDG T T c.3286T>C p.Tyr1096His p.Y1096H ENST00000306151 3/13 150 120 11 82 78 2 MUC17,missense_variant,p.Tyr1096His,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Tyr1096His,ENST00000379439,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 3350/14247 3286/13482 1096/4493 Y/H Tat/Cat rs762452745 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.08) benign(0.029) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS TTA . . 101034702 MUC17 . GRCh38 chr7 101037152 101037152 + Missense_Mutation SNP C C A 7316-2669 BS_GNH80DDG C C c.5736C>A p.Asp1912Glu p.D1912E ENST00000306151 3/13 67 57 8 43 40 0 MUC17,missense_variant,p.Asp1912Glu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asp1912Glu,ENST00000379439,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 5800/14247 5736/13482 1912/4493 D/E gaC/gaA COSM598157 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS ACG . . 101037152 MUC17 . GRCh38 chr7 101038875 101038875 + Missense_Mutation SNP A A C 7316-2669 BS_GNH80DDG A A c.7459A>C p.Met2487Leu p.M2487L ENST00000306151 3/13 68 51 5 61 59 0 MUC17,missense_variant,p.Met2487Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Met2487Leu,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 7523/14247 7459/13482 2487/4493 M/L Atg/Ctg COSM1312521 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.2) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS TAT . . 101038875 IMPDH1 . GRCh38 chr7 128409849 128409849 + Missense_Mutation SNP A A C novel 7316-2669 BS_GNH80DDG A A c.53T>G p.Val18Gly p.V18G ENST00000338791 1/17 71 61 9 32 31 0 IMPDH1,missense_variant,p.Val18Gly,ENST00000338791,NM_000883.3;IMPDH1,missense_variant,p.Val18Gly,ENST00000354269,NM_001102605.1;IMPDH1,missense_variant,p.Val18Gly,ENST00000348127,NM_001304521.1,NM_183243.2;IMPDH1,missense_variant,p.Val18Gly,ENST00000419067,NM_001142576.1;IMPDH1,missense_variant,p.Val18Gly,ENST00000497868,;IMPDH1,missense_variant,p.Val18Gly,ENST00000489263,;IMPDH1,5_prime_UTR_variant,,ENST00000626419,;IMPDH1,upstream_gene_variant,,ENST00000470772,NM_001142573.1;IMPDH1,upstream_gene_variant,,ENST00000480861,NM_001142574.1;IMPDH1,upstream_gene_variant,,ENST00000496200,NM_001142575.1;IMPDH1,missense_variant,p.Val18Gly,ENST00000473463,;IMPDH1,non_coding_transcript_exon_variant,,ENST00000491376,;IMPDH1,upstream_gene_variant,,ENST00000469328,;IMPDH1,upstream_gene_variant,,ENST00000484496,;IMPDH1,upstream_gene_variant,,ENST00000496487,;,regulatory_region_variant,,ENSR00000217741,; C ENSG00000106348 ENST00000338791 Transcript missense_variant 404/2881 53/1800 18/599 V/G gTt/gGt 1 -1 IMPDH1 HGNC HGNC:6052 protein_coding YES CCDS34749.1 ENSP00000345096 P20839 UPI00001BDC74 NM_000883.3 deleterious_low_confidence(0.01) benign(0) 1/17 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 2 1 PASS AAC . . 128409849 ATG9B . GRCh38 chr7 151024059 151024059 + Missense_Mutation SNP A A C novel 7316-2669 BS_GNH80DDG A A c.365T>G p.Leu122Arg p.L122R ENST00000639579 1/17 47 29 9 37 35 1 ATG9B,missense_variant,p.Leu122Arg,ENST00000639579,;ATG9B,missense_variant,p.Leu122Arg,ENST00000469530,NM_001317056.1;ABCB8,upstream_gene_variant,,ENST00000297504,NM_001282291.1;ABCB8,upstream_gene_variant,,ENST00000358849,NM_007188.4;ABCB8,upstream_gene_variant,,ENST00000461373,;ABCB8,upstream_gene_variant,,ENST00000477092,;ABCB8,upstream_gene_variant,,ENST00000477719,;ABCB8,upstream_gene_variant,,ENST00000498578,NM_001282292.1;ABCB8,upstream_gene_variant,,ENST00000542328,NM_001282293.1;AC010973.1,downstream_gene_variant,,ENST00000479085,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473409,;ATG9B,intron_variant,,ENST00000466157,;ATG9B,intron_variant,,ENST00000617967,;ABCB8,upstream_gene_variant,,ENST00000466956,;ABCB8,upstream_gene_variant,,ENST00000469410,;ABCB8,upstream_gene_variant,,ENST00000471796,;ABCB8,upstream_gene_variant,,ENST00000472698,;ABCB8,upstream_gene_variant,,ENST00000488370,;ABCB8,upstream_gene_variant,,ENST00000488826,;ATG9B,missense_variant,p.Leu122Arg,ENST00000605952,;ABCB8,upstream_gene_variant,,ENST00000462605,;ABCB8,upstream_gene_variant,,ENST00000466514,;ABCB8,upstream_gene_variant,,ENST00000470645,;ATG9B,upstream_gene_variant,,ENST00000473134,;ABCB8,upstream_gene_variant,,ENST00000482309,;ABCB8,upstream_gene_variant,,ENST00000488551,;ABCB8,upstream_gene_variant,,ENST00000489192,; C ENSG00000181652 ENST00000639579 Transcript missense_variant 441/4539 365/2775 122/924 L/R cTg/cGg 1 -1 ATG9B HGNC HGNC:21899 protein_coding YES CCDS83242.1 ENSP00000491504 Q674R7 UPI00004286C0 deleterious_low_confidence(0) benign(0.282) 1/17 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 151024059 ODF1 . GRCh38 chr8 102560576 102560576 + Missense_Mutation SNP T T G novel 7316-2669 BS_GNH80DDG T T c.445T>G p.Cys149Gly p.C149G ENST00000285402 2/2 67 59 8 49 49 0 ODF1,missense_variant,p.Cys149Gly,ENST00000285402,NM_024410.3;ODF1,splice_region_variant,,ENST00000518835,; G ENSG00000155087 ENST00000285402 Transcript missense_variant 601/1013 445/753 149/250 C/G Tgt/Ggt 1 1 ODF1 HGNC HGNC:8113 protein_coding YES CCDS6293.1 ENSP00000285402 Q14990 UPI000013DDEA NM_024410.3 tolerated(0.35) benign(0.159) 2/2 Gene3D:2.60.40.790,Pfam_domain:PF00011,hmmpanther:PTHR17125,Superfamily_domains:SSF49764,cd06482 MODERATE 1 SNV 1 PASS ATG . . 102560576 ZNF658 . GRCh38 chr9 66919513 66919513 + Missense_Mutation SNP A A C rs764631561 7316-2669 BS_GNH80DDG A A c.1947A>C p.Gln649His p.Q649H ENST00000612867 5/5 53 39 5 37 37 0 ZNF658,missense_variant,p.Gln649His,ENST00000612867,NM_001317916.1;ZNF658,missense_variant,p.Gln649His,ENST00000621410,NM_033160.6;ZNF658,downstream_gene_variant,,ENST00000616544,;ZNF658,downstream_gene_variant,,ENST00000619925,;ZNF658,downstream_gene_variant,,ENST00000621015,;ZNF658,intron_variant,,ENST00000622180,; C ENSG00000274349 ENST00000612867 Transcript missense_variant 2247/4160 1947/3180 649/1059 Q/H caA/caC rs764631561 1 1 ZNF658 HGNC HGNC:25226 protein_coding YES CCDS75846.1 ENSP00000482540 Q5TYW1 UPI000046D388 NM_001317916.1 deleterious(0) possibly_damaging(0.473) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF668,hmmpanther:PTHR24377:SF668,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS AAA . . 4.063e-06 8.963e-06 66919513 SH3GLB2 . GRCh38 chr9 129012258 129012258 + Missense_Mutation SNP A A C 7316-2669 BS_GNH80DDG A A c.614T>G p.Ile205Ser p.I205S ENST00000372554 7/13 52 42 8 27 27 0 SH3GLB2,missense_variant,p.Ile201Ser,ENST00000372564,NM_020145.3,NM_001287046.1;SH3GLB2,missense_variant,p.Ile205Ser,ENST00000372554,NM_001287045.1;SH3GLB2,missense_variant,p.Ile201Ser,ENST00000417224,;SH3GLB2,missense_variant,p.Ile201Ser,ENST00000372559,;SH3GLB2,intron_variant,,ENST00000416629,;SH3GLB2,3_prime_UTR_variant,,ENST00000455407,;SH3GLB2,3_prime_UTR_variant,,ENST00000425236,;SH3GLB2,non_coding_transcript_exon_variant,,ENST00000461811,;SH3GLB2,non_coding_transcript_exon_variant,,ENST00000483980,;SH3GLB2,non_coding_transcript_exon_variant,,ENST00000477165,;SH3GLB2,downstream_gene_variant,,ENST00000416230,;SH3GLB2,upstream_gene_variant,,ENST00000479237,; C ENSG00000148341 ENST00000372554 Transcript missense_variant 739/1985 614/1215 205/404 I/S aTt/aGt COSM1105802,COSM4874519 1 -1 SH3GLB2 HGNC HGNC:10834 protein_coding YES CCDS69680.1 ENSP00000361634 Q9NR46 UPI000004A0D5 NM_001287045.1 deleterious(0.04) possibly_damaging(0.65) 7/13 Gene3D:1.20.1270.60,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR44071,hmmpanther:PTHR44071:SF2,SMART_domains:SM00721,cd07617 1,1 MODERATE 1 SNV 1 1,1 PASS AAT . . 129012258 TSPAN4 . GRCh38 chr11 844591 844591 + Splice_Region SNP A A C novel 7316-2669 BS_GNH80DDG A A c.-118+4A>C ENST00000397404 61 38 12 29 24 0 TSPAN4,splice_region_variant,,ENST00000397404,NM_001025237.1;TSPAN4,intron_variant,,ENST00000397396,NM_001025239.1;TSPAN4,intron_variant,,ENST00000397397,NM_003271.4;TSPAN4,intron_variant,,ENST00000397406,NM_001025234.1;TSPAN4,intron_variant,,ENST00000397408,NM_001025235.1,NM_001025236.1;TSPAN4,intron_variant,,ENST00000397411,NM_001025238.1;TSPAN4,intron_variant,,ENST00000409543,;TSPAN4,intron_variant,,ENST00000525201,;TSPAN4,intron_variant,,ENST00000525334,;TSPAN4,intron_variant,,ENST00000530404,;POLR2L,upstream_gene_variant,,ENST00000322028,NM_021128.4;TSPAN4,upstream_gene_variant,,ENST00000346501,;TSPAN4,upstream_gene_variant,,ENST00000409531,;TSPAN4,upstream_gene_variant,,ENST00000532375,;CD151,downstream_gene_variant,,ENST00000525181,;TSPAN4,upstream_gene_variant,,ENST00000464987,;TSPAN4,upstream_gene_variant,,ENST00000524895,;TSPAN4,upstream_gene_variant,,ENST00000526055,;POLR2L,upstream_gene_variant,,ENST00000534030,;,regulatory_region_variant,,ENSR00000035700,; C ENSG00000214063 ENST00000397404 Transcript splice_region_variant,intron_variant 1 1 TSPAN4 HGNC HGNC:11859 protein_coding YES CCDS7721.1 ENSP00000380553 O14817 A0A024RCE1 UPI000013683F NM_001025237.1 1/8 LOW SNV 5 PASS AAG . . 844591 KRTAP5-3 . GRCh38 chr11 1607891 1607891 + Missense_Mutation SNP A A C 7316-2669 BS_GNH80DDG A A c.495T>G p.Cys165Trp p.C165W ENST00000399685 1/1 50 33 6 37 34 0 KRTAP5-3,missense_variant,p.Cys165Trp,ENST00000399685,NM_001012708.2;,regulatory_region_variant,,ENSR00000035812,; C ENSG00000196224 ENST00000399685 Transcript missense_variant 573/899 495/717 165/238 C/W tgT/tgG COSM393076 1 -1 KRTAP5-3 HGNC HGNC:23598 protein_coding YES CCDS41591.1 ENSP00000382592 Q6L8H2 UPI000037605E NM_001012708.2 deleterious(0) probably_damaging(0.966) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF134,hmmpanther:PTHR23262:SF134,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 PASS AAC . . 1607891 PRB4 . GRCh38 chr12 11308844 11308844 + Missense_Mutation SNP G G T novel 7316-2669 BS_GNH80DDG G G c.139C>A p.Pro47Thr p.P47T ENST00000279575 3/4 42 26 7 41 35 0 PRB4,missense_variant,p.Pro47Thr,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Pro47Thr,ENST00000535904,;PRB4,missense_variant,p.Pro47Thr,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Pro47Thr,ENST00000445719,; T ENSG00000230657 ENST00000279575 Transcript missense_variant 176/916 139/744 47/247 P/T Ccc/Acc 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.38) benign(0.007) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GGC . . 11308844 PRB4 . GRCh38 chr12 11308864 11308864 + Missense_Mutation SNP C C G rs77336955 7316-2669 BS_GNH80DDG C C c.119G>C p.Arg40Pro p.R40P ENST00000279575 3/4 47 39 7 37 34 0 PRB4,missense_variant,p.Arg40Pro,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Arg40Pro,ENST00000535904,;PRB4,missense_variant,p.Arg40Pro,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Arg40Pro,ENST00000445719,; G ENSG00000230657 ENST00000279575 Transcript missense_variant 156/916 119/744 40/247 R/P cGc/cCc rs77336955,COSM1732889,COSM125561 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.19) benign(0) 3/4 Pfam_domain:PF15240,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GCG . . 1.313e-05 7.058e-05 1.884e-05 11308864 PRB1 . GRCh38 chr12 11353985 11353985 + Missense_Mutation SNP A A T rs373764594 7316-2669 BS_GNH80DDG A A c.118T>A p.Ser40Thr p.S40T ENST00000500254 3/5 62 47 6 51 49 0 PRB1,missense_variant,p.Ser40Thr,ENST00000546254,;PRB1,missense_variant,p.Ser40Thr,ENST00000500254,NM_005039.3,NM_199353.2;PRB1,missense_variant,p.Ser40Thr,ENST00000545626,NM_199354.2;PRB1,missense_variant,p.Ser40Thr,ENST00000240636,; T ENSG00000251655 ENST00000500254 Transcript missense_variant 156/775 118/597 40/198 S/T Tcc/Acc rs373764594 1 -1 PRB1 HGNC HGNC:9337 protein_coding YES CCDS8642.1 ENSP00000420826 UPI00002371B8 NM_005039.3,NM_199353.2 tolerated_low_confidence(0.27) benign(0) 3/5 Pfam_domain:PF15240,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAT . . 4.102e-06 2.991e-05 11353985 FAM186A . GRCh38 chr12 50352487 50352487 + Missense_Mutation SNP C C G 7316-2669 BS_GNH80DDG C C c.4345G>C p.Ala1449Pro p.A1449P ENST00000327337 4/8 37 21 9 51 45 2 FAM186A,missense_variant,p.Ala1449Pro,ENST00000543111,;FAM186A,missense_variant,p.Ala1449Pro,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 4345/7127 4345/7056 1449/2351 A/P Gct/Cct COSM6294091 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 1 MODERATE 1 SNV 5 1 PASS GCG . . 50352487 UBC . GRCh38 chr12 124913469 124913469 + Missense_Mutation SNP G G T novel 7316-2669 BS_GNH80DDG G G c.303C>A p.Asn101Lys p.N101K ENST00000536769 1/1 61 48 7 43 41 0 UBC,missense_variant,p.Asn101Lys,ENST00000536769,;UBC,missense_variant,p.Asn101Lys,ENST00000339647,NM_021009.6;UBC,missense_variant,p.Asn101Lys,ENST00000538617,;UBC,missense_variant,p.Asn101Lys,ENST00000546120,;UBC,missense_variant,p.Asn101Lys,ENST00000540700,;UBC,missense_variant,p.Asn101Lys,ENST00000540351,;UBC,missense_variant,p.Asn101Lys,ENST00000535859,;UBC,missense_variant,p.Asn101Lys,ENST00000535131,;UBC,missense_variant,p.Asn101Lys,ENST00000546271,;UBC,missense_variant,p.Asn101Lys,ENST00000541645,;UBC,intron_variant,,ENST00000541272,;UBC,downstream_gene_variant,,ENST00000542416,;MIR5188,upstream_gene_variant,,ENST00000583467,;UBC,non_coding_transcript_exon_variant,,ENST00000544481,;UBC,downstream_gene_variant,,ENST00000536661,; T ENSG00000150991 ENST00000536769 Transcript missense_variant 1880/3745 303/2058 101/685 N/K aaC/aaA 1 -1 UBC HGNC HGNC:12468 protein_coding YES CCDS9260.1 ENSP00000441543 P0CG48 UPI000000D74D tolerated(0.14) probably_damaging(0.963) 1/1 Gene3D:3.10.20.90,Pfam_domain:PF00240,PROSITE_profiles:PS50053,hmmpanther:PTHR45095,hmmpanther:PTHR45095,hmmpanther:PTHR45095:SF2,hmmpanther:PTHR45095:SF2,SMART_domains:SM00213,Superfamily_domains:SSF54236,cd01803 MODERATE 1 SNV PASS CGT . . 124913469 PABPC3 . GRCh38 chr13 25097469 25097469 + Missense_Mutation SNP G G A rs117378456 7316-2669 BS_GNH80DDG G G c.1271G>A p.Arg424Gln p.R424Q ENST00000281589 1/1 68 62 6 41 41 0 PABPC3,missense_variant,p.Arg424Gln,ENST00000281589,NM_030979.2;,regulatory_region_variant,,ENSR00000271233,; A ENSG00000151846 ENST00000281589 Transcript missense_variant 1602/3387 1271/1896 424/631 R/Q cGa/cAa rs117378456,COSM4213859 1 1 PABPC3 HGNC HGNC:8556 protein_coding YES CCDS9311.1 ENSP00000281589 Q9H361 Q5VX58 UPI00001311AB NM_030979.2 tolerated(1) benign(0) 1/1 hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,TIGRFAM_domain:TIGR01628 0.0851 0.1399 0.0562 0.0496 0.0348 0.1196 0,1 MODERATE 1 SNV 0,1 PASS CGA . . 4.072e-06 8.973e-06 25097469 GPR137C . GRCh38 chr14 52553149 52553149 + Translation_Start_Site SNP T T G rs113421241 7316-2669 BS_GNH80DDG T T c.2T>G p.Met1? p.M1? ENST00000321662 1/7 64 56 5 35 33 0 GPR137C,start_lost,p.Met1?,ENST00000321662,NM_001099652.1;TXNDC16,upstream_gene_variant,,ENST00000281741,NM_001160047.1,NM_020784.2;GPR137C,upstream_gene_variant,,ENST00000542169,;GPR137C,upstream_gene_variant,,ENST00000555622,;TXNDC16,upstream_gene_variant,,ENST00000557374,;TXNDC16,upstream_gene_variant,,ENST00000554399,;,regulatory_region_variant,,ENSR00000068444,;,TF_binding_site_variant,,PB0010.1,; G ENSG00000180998 ENST00000321662 Transcript start_lost 2/3888 2/1290 1/429 M/R aTg/aGg rs113421241 1 1 GPR137C HGNC HGNC:25445 protein_coding YES CCDS45106.1 ENSP00000315106 Q8N3F9 UPI0000043F5A NM_001099652.1 deleterious_low_confidence(0) benign(0.226) 1/7 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 52553149 AHNAK2 . GRCh38 chr14 104947629 104947629 + Missense_Mutation SNP C C T rs372063231 7316-2669 BS_GNH80DDG C C c.7822G>A p.Glu2608Lys p.E2608K ENST00000333244 7/7 71 61 8 38 38 0 AHNAK2,missense_variant,p.Glu2608Lys,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; T ENSG00000185567 ENST00000333244 Transcript missense_variant 7942/18254 7822/17388 2608/5795 E/K Gag/Aag rs372063231 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.13) benign(0.112) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.0002658 0.0001218 MODERATE 1 SNV 5 PASS TCC . . 0.0001266 6.57e-05 9.003e-05 5.825e-05 0.0001437 0.0001839 0.000297 104947629 ACAN . GRCh38 chr15 88856906 88856906 + Missense_Mutation SNP A A G rs200437529 7316-2669 BS_GNH80DDG A A c.4321A>G p.Thr1441Ala p.T1441A ENST00000439576 12/18 57 42 7 38 34 1 ACAN,missense_variant,p.Thr1441Ala,ENST00000560601,;ACAN,missense_variant,p.Thr1441Ala,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Thr1422Ala,ENST00000617301,;ACAN,missense_variant,p.Thr1441Ala,ENST00000559004,;ACAN,missense_variant,p.Thr1441Ala,ENST00000561243,;ACAN,missense_variant,p.Thr1441Ala,ENST00000352105,NM_001135.3;,regulatory_region_variant,,ENSR00000278890,; G ENSG00000157766 ENST00000439576 Transcript missense_variant 4695/8840 4321/7593 1441/2530 T/A Act/Gct rs200437529,COSM1129069,COSM1129068 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 tolerated(0.44) benign(0.186) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS TAC . . 4.537e-05 0.0001333 8.987e-05 6.315e-05 88856906 CDRT15 . GRCh38 chr17 14236571 14236571 + Splice_Site SNP C C T rs11650811 7316-2669 BS_GNH80DDG C C c.262+1G>A p.X88_splice ENST00000420162 58 45 13 21 21 0 CDRT15,splice_donor_variant,,ENST00000420162,NM_001007530.1;CDRT15,intron_variant,,ENST00000431716,NM_001348781.1; T ENSG00000223510 ENST00000420162 Transcript splice_donor_variant rs11650811,COSM436058 1 -1 CDRT15 HGNC HGNC:14395 protein_coding YES CCDS32569.1 ENSP00000402355 Q96T59 UPI00000702CA NM_001007530.1 1/2 0.0555 0.0749 0.0259 0.0784 0.0398 0.0429 0,1 HIGH 1 SNV 1 0,1 PASS ACC . . 0.04322 0.09788 0.03025 0.04993 0.1242 0.008246 0.03497 0.04943 0.04499 14236571 PPM1E . GRCh38 chr17 58756192 58756192 + Missense_Mutation SNP A A C rs745942068 7316-2669 BS_GNH80DDG A A c.195A>C p.Glu65Asp p.E65D ENST00000308249 1/7 47 36 11 27 25 1 PPM1E,missense_variant,p.Glu65Asp,ENST00000308249,NM_014906.4;,regulatory_region_variant,,ENSR00000096303,; C ENSG00000175175 ENST00000308249 Transcript missense_variant 324/6542 195/2268 65/755 E/D gaA/gaC rs745942068 1 1 PPM1E HGNC HGNC:19322 protein_coding YES CCDS11613.1 ENSP00000312411 Q8WY54 UPI000013ECF6 NM_014906.4 tolerated_low_confidence(0.2) benign(0) 1/7 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 6.396e-06 4.176e-05 58756192 FSCN2 . GRCh38 chr17 81536778 81536778 + Missense_Mutation SNP A A C novel 7316-2669 BS_GNH80DDG A A c.1334A>C p.Tyr445Ser p.Y445S ENST00000334850 4/5 71 53 9 33 33 0 FSCN2,missense_variant,p.Tyr421Ser,ENST00000417245,NM_012418.3;FSCN2,missense_variant,p.Tyr445Ser,ENST00000334850,NM_001077182.2;FAAP100,downstream_gene_variant,,ENST00000327787,NM_025161.5;FAAP100,downstream_gene_variant,,ENST00000425898,;FSCN2,non_coding_transcript_exon_variant,,ENST00000527221,;FAAP100,downstream_gene_variant,,ENST00000443656,;,regulatory_region_variant,,ENSR00000099432,; C ENSG00000186765 ENST00000334850 Transcript missense_variant 1334/1551 1334/1551 445/516 Y/S tAc/tCc 1 1 FSCN2 HGNC HGNC:3960 protein_coding YES CCDS45810.1 ENSP00000334665 O14926 UPI0000E5925D NM_001077182.2 deleterious(0) possibly_damaging(0.857) 4/5 Gene3D:2.80.10.50,Pfam_domain:PF06268,PIRSF_domain:PIRSF005682,hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF22,Superfamily_domains:SSF50405,cd00257 MODERATE SNV 5 1 PASS TAC . . 81536778 ZNF442 . GRCh38 chr19 12349810 12349810 + Missense_Mutation SNP T T G rs1225785005 7316-2669 BS_GNH80DDG T T c.1775A>C p.Lys592Thr p.K592T ENST00000242804 6/6 73 63 6 43 42 0 ZNF442,missense_variant,p.Lys592Thr,ENST00000242804,NM_030824.2;ZNF442,missense_variant,p.Lys523Thr,ENST00000438182,;ZNF442,missense_variant,p.Lys592Thr,ENST00000545749,;ZNF442,downstream_gene_variant,,ENST00000424168,;ZNF442,downstream_gene_variant,,ENST00000462995,; G ENSG00000198342 ENST00000242804 Transcript missense_variant 2358/6219 1775/1884 592/627 K/T aAa/aCa rs1225785005 1 -1 ZNF442 HGNC HGNC:20877 protein_coding YES CCDS12271.1 ENSP00000242804 Q9H7R0 UPI000006D14F NM_030824.2 deleterious(0.02) benign(0.292) 6/6 Gene3D:3.30.40.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF6,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TTT . . 12349810 ZNF791 . GRCh38 chr19 12628681 12628681 + Nonsense_Mutation SNP C C A novel 7316-2669 BS_GNH80DDG C C c.1152C>A p.Tyr384Ter p.Y384* ENST00000343325 4/4 63 50 8 38 38 0 ZNF791,stop_gained,p.Tyr384Ter,ENST00000343325,NM_153358.2;ZNF791,3_prime_UTR_variant,,ENST00000446165,;ZNF791,downstream_gene_variant,,ENST00000600752,;ZNF490,intron_variant,,ENST00000465656,;ZNF791,downstream_gene_variant,,ENST00000597691,;ZNF791,downstream_gene_variant,,ENST00000598225,; A ENSG00000173875 ENST00000343325 Transcript stop_gained 1314/4554 1152/1731 384/576 Y/* taC/taA 1 1 ZNF791 HGNC HGNC:26895 protein_coding YES CCDS12273.1 ENSP00000342974 Q3KP31 UPI0000203455 NM_153358.2 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF26,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 HIGH 1 SNV 1 PASS ACG . . 12628681 ZNF93 . GRCh38 chr19 19933895 19933895 + Missense_Mutation SNP G G C 7316-2669 BS_GNH80DDG G G c.940G>C p.Val314Leu p.V314L ENST00000343769 4/4 71 58 5 34 33 0 ZNF93,missense_variant,p.Val314Leu,ENST00000343769,NM_031218.3;ZNF93,missense_variant,p.Val123Leu,ENST00000638737,;ZNF93,downstream_gene_variant,,ENST00000588146,;ZNF93,downstream_gene_variant,,ENST00000592160,;ZNF93,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,; C ENSG00000184635 ENST00000343769 Transcript missense_variant 968/2648 940/1863 314/620 V/L Gtt/Ctt COSM6450042 1 1 ZNF93 HGNC HGNC:13169 protein_coding YES CCDS32973.1 ENSP00000342002 P35789 UPI00002263B9 NM_031218.3 deleterious(0) benign(0.295) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381,Pfam_domain:PF00096,PIRSF_domain:PIRSF037162,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS CGT . . 19933895 ZNF93 . GRCh38 chr19 19933931 19933931 + Missense_Mutation SNP C C A novel 7316-2669 BS_GNH80DDG C C c.976C>A p.Arg326Ser p.R326S ENST00000343769 4/4 64 48 10 36 35 0 ZNF93,missense_variant,p.Arg326Ser,ENST00000343769,NM_031218.3;ZNF93,missense_variant,p.Arg135Ser,ENST00000638737,;ZNF93,downstream_gene_variant,,ENST00000588146,;ZNF93,downstream_gene_variant,,ENST00000592160,;ZNF93,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,; A ENSG00000184635 ENST00000343769 Transcript missense_variant 1004/2648 976/1863 326/620 R/S Cgt/Agt 1 1 ZNF93 HGNC HGNC:13169 protein_coding YES CCDS32973.1 ENSP00000342002 P35789 UPI00002263B9 NM_031218.3 tolerated(1) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF037162,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CCG . . 19933931 ZNF90 . GRCh38 chr19 20118897 20118897 + Missense_Mutation SNP G G C rs368871975 7316-2669 BS_GNH80DDG G G c.1343G>C p.Ser448Thr p.S448T ENST00000418063 4/4 62 49 9 50 49 0 ZNF90,missense_variant,p.Ser448Thr,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; C ENSG00000213988 ENST00000418063 Transcript missense_variant 1455/2310 1343/1806 448/601 S/T aGt/aCt rs368871975,COSM349529,COSM1304248 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0.0004 0.0015 0.001445 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGT . . 0.0002111 0.002728 0.0002746 3.332e-05 20118897 ZNF85 . GRCh38 chr19 20949918 20949918 + Missense_Mutation SNP T T A rs750615115 7316-2669 BS_GNH80DDG T T c.1404T>A p.Asn468Lys p.N468K ENST00000328178 4/4 52 40 8 56 54 0 ZNF85,missense_variant,p.Asn468Lys,ENST00000328178,NM_003429.4;ZNF85,missense_variant,p.Asn435Lys,ENST00000345030,;ZNF85,missense_variant,p.Asn416Lys,ENST00000596534,;ZNF85,downstream_gene_variant,,ENST00000595742,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000599885,NM_001256173.1;ZNF85,downstream_gene_variant,,ENST00000601284,NM_001256171.1;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,non_coding_transcript_exon_variant,,ENST00000601023,; A ENSG00000105750 ENST00000328178 Transcript missense_variant 1517/2296 1404/1788 468/595 N/K aaT/aaA rs750615115 1 1 ZNF85 HGNC HGNC:13160 protein_coding YES CCDS32977.1 ENSP00000329793 Q03923 UPI0000203897 NM_003429.4 tolerated(0.5) benign(0.176) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATC . . 20949918 ZNF430 . GRCh38 chr19 21057905 21057905 + Missense_Mutation SNP G G T 7316-2669 BS_GNH80DDG G G c.1597G>T p.Val533Leu p.V533L ENST00000261560 5/5 75 64 6 36 34 0 ZNF430,splice_donor_variant,,ENST00000597922,;ZNF430,missense_variant,p.Val533Leu,ENST00000261560,NM_001172671.1,NM_025189.3;ZNF430,downstream_gene_variant,,ENST00000599548,; T ENSG00000118620 ENST00000261560 Transcript missense_variant 1778/3923 1597/1713 533/570 V/L Gta/Tta COSM6830166 1 1 ZNF430 HGNC HGNC:20808 protein_coding YES CCDS32978.1 ENSP00000261560 Q9H8G1 UPI000020389E NM_001172671.1,NM_025189.3 tolerated(0.34) benign(0.015) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF131,hmmpanther:PTHR24384,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS GGT . . 21057905 ZNF708 . GRCh38 chr19 21293816 21293816 + Missense_Mutation SNP C C A 7316-2669 BS_GNH80DDG C C c.1150G>T p.Val384Leu p.V384L ENST00000356929 4/4 54 37 8 29 29 0 ZNF708,missense_variant,p.Val384Leu,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; A ENSG00000182141 ENST00000356929 Transcript missense_variant 1348/4004 1150/1692 384/563 V/L Gta/Tta COSM1189973 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 tolerated(0.25) benign(0.041) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS ACC . . 21293816 ZNF493 . GRCh38 chr19 21423890 21423890 + Missense_Mutation SNP G G T rs755503662 7316-2669 BS_GNH80DDG G G c.1231G>T p.Gly411Cys p.G411C ENST00000392288 4/4 64 48 9 41 39 0 ZNF493,missense_variant,p.Gly411Cys,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.Gly283Cys,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;AC010615.4,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,; T ENSG00000196268 ENST00000392288 Transcript missense_variant 1340/5023 1231/2325 411/774 G/C Ggc/Tgc rs755503662,COSM4744017,COSM4744016 1 1 ZNF493 HGNC HGNC:23708 protein_coding YES CCDS42536.1 ENSP00000376110 Q6ZR52 UPI000022ABBF NM_001076678.2 deleterious(0.01) probably_damaging(0.999) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,hmmpanther:PTHR24384:SF134,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TGG . . 21423890 ZNF43 . GRCh38 chr19 21808181 21808181 + Missense_Mutation SNP C C T rs532102661 7316-2669 BS_GNH80DDG C C c.1883G>A p.Gly628Glu p.G628E ENST00000357491 4/4 49 31 5 46 45 0 ZNF43,missense_variant,p.Gly613Glu,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Gly628Glu,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Gly613Glu,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Gly613Glu,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Gly619Glu,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 2017/5249 1883/2457 628/818 G/E gGa/gAa rs532102661,COSM993721 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(1) possibly_damaging(0.453) 4/4 Gene3D:2.20.25.10,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,Superfamily_domains:SSF57667 0.0002 0.001 0,1 MODERATE 1 SNV 2 0,1 PASS TCC . . 0.0005598 0.001391 0.0002173 0.0005173 4.592e-05 0.0003097 0.001046 0.001334 21808181 ZNF43 . GRCh38 chr19 21809031 21809031 + Missense_Mutation SNP G G T rs1181838337 7316-2669 BS_GNH80DDG G G c.1033C>A p.His345Asn p.H345N ENST00000357491 4/4 70 58 9 40 40 0 ZNF43,missense_variant,p.His330Asn,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.His345Asn,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.His330Asn,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.His330Asn,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.His336Asn,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 1167/5249 1033/2457 345/818 H/N Cat/Aat rs1181838337,COSM4457103 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 deleterious(0) benign(0.436) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TGA . . 21809031 ZNF208 . GRCh38 chr19 21971673 21971673 + Missense_Mutation SNP T T C rs758931043 7316-2669 BS_GNH80DDG T T c.3361A>G p.Ser1121Gly p.S1121G ENST00000397126 4/4 56 42 8 42 37 1 ZNF208,missense_variant,p.Ser1121Gly,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Ser993Gly,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; C ENSG00000160321 ENST00000397126 Transcript missense_variant 3510/3992 3361/3843 1121/1280 S/G Agc/Ggc rs758931043 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(0.12) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS CTT . . 8.37e-06 6.638e-05 9.114e-06 21971673 ZNF91 . GRCh38 chr19 23361479 23361479 + Missense_Mutation SNP C C G rs1317953106 7316-2669 BS_GNH80DDG C C c.1500G>C p.Arg500Ser p.R500S ENST00000300619 4/4 62 51 8 43 43 0 ZNF91,missense_variant,p.Arg500Ser,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Arg468Ser,ENST00000397082,NM_001300951.1;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,; G ENSG00000167232 ENST00000300619 Transcript missense_variant 1706/5489 1500/3576 500/1191 R/S agG/agC rs1317953106 1 -1 ZNF91 HGNC HGNC:13166 protein_coding YES CCDS42541.1 ENSP00000300619 Q05481 UPI00002038F9 NM_003430.3 tolerated(1) benign(0.056) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF42,hmmpanther:PTHR24376:SF42,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GCC . . 8.383e-06 6.663e-05 3.147e-05 23361479 ZNF681 . GRCh38 chr19 23744143 23744143 + Missense_Mutation SNP T T A 7316-2669 BS_GNH80DDG T T c.1407A>T p.Lys469Asn p.K469N ENST00000402377 4/4 60 39 7 37 37 0 ZNF681,missense_variant,p.Lys469Asn,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; A ENSG00000196172 ENST00000402377 Transcript missense_variant 1549/6497 1407/1938 469/645 K/N aaA/aaT COSM1271707,COSM1271706 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 deleterious(0.02) possibly_damaging(0.749) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS TTT . . 23744143 ZNF30 . GRCh38 chr19 34944197 34944197 + Missense_Mutation SNP A A T rs1406416270 7316-2669 BS_GNH80DDG A A c.1234A>T p.Thr412Ser p.T412S ENST00000439785 5/5 54 47 7 45 44 0 ZNF30,missense_variant,p.Thr412Ser,ENST00000439785,NM_001099438.1;ZNF30,missense_variant,p.Thr412Ser,ENST00000303586,NM_001099437.1;ZNF30,missense_variant,p.Thr411Ser,ENST00000601142,NM_194325.2;ZNF30,3_prime_UTR_variant,,ENST00000601957,;ZNF30,downstream_gene_variant,,ENST00000595818,;AC008555.8,downstream_gene_variant,,ENST00000623602,; T ENSG00000168661 ENST00000439785 Transcript missense_variant 1678/2651 1234/1875 412/624 T/S Act/Tct rs1406416270 1 1 ZNF30 HGNC HGNC:13090 protein_coding YES CCDS46044.1 ENSP00000403441 P17039 UPI0001596897 NM_001099438.1 tolerated(0.44) benign(0) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF641,hmmpanther:PTHR24377:SF641,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS TAC . . 34944197 ZNF461 . GRCh38 chr19 36639099 36639099 + Missense_Mutation SNP G G T novel 7316-2669 BS_GNH80DDG G G c.1246C>A p.His416Asn p.H416N ENST00000588268 6/6 55 45 7 37 36 0 ZNF461,missense_variant,p.His416Asn,ENST00000588268,NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1;ZNF461,missense_variant,p.His393Asn,ENST00000360357,NM_001322827.1,NM_001322826.1,NM_001297623.2;ZNF461,missense_variant,p.His416Asn,ENST00000614133,;ZNF461,missense_variant,p.His147Asn,ENST00000618437,;ZNF382,downstream_gene_variant,,ENST00000292928,NM_032825.4;ZNF461,downstream_gene_variant,,ENST00000591370,NM_001322828.1;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000588844,;ZNF461,downstream_gene_variant,,ENST00000590361,; T ENSG00000197808 ENST00000588268 Transcript missense_variant 1474/2584 1246/1692 416/563 H/N Cat/Aat 1 -1 ZNF461 HGNC HGNC:21629 protein_coding YES CCDS54257.1 ENSP00000467931 Q8TAF7 UPI00002021CA NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1 tolerated(0.15) benign(0) 6/6 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF277,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TGA . . 36639099 ZNF567 . GRCh38 chr19 36720514 36720514 + Missense_Mutation SNP G G C novel 7316-2669 BS_GNH80DDG G G c.1790G>C p.Cys597Ser p.C597S ENST00000536254 6/6 56 49 6 45 45 0 ZNF567,missense_variant,p.Cys566Ser,ENST00000585696,;ZNF567,missense_variant,p.Cys597Ser,ENST00000536254,NM_001322917.1,NM_001322918.1,NM_001300979.1,NM_001322916.1,NM_001322913.1,NM_001322915.1,NM_001322919.1,NM_001322914.1,NM_001322920.1;ZNF567,missense_variant,p.Cys566Ser,ENST00000360729,NM_001322912.1,NM_152603.4,NM_001322911.1;ZNF567,missense_variant,p.Cys566Ser,ENST00000588311,;ZNF567,intron_variant,,ENST00000589264,;ZNF850,intron_variant,,ENST00000589390,;ZNF567,intron_variant,,ENST00000591308,; C ENSG00000189042 ENST00000536254 Transcript missense_variant 2012/2825 1790/1944 597/647 C/S tGc/tCc 1 1 ZNF567 HGNC HGNC:28696 protein_coding YES CCDS74349.1 ENSP00000441838 Q8N184 UPI000022A7F5 NM_001322917.1,NM_001322918.1,NM_001300979.1,NM_001322916.1,NM_001322913.1,NM_001322915.1,NM_001322919.1,NM_001322914.1,NM_001322920.1 tolerated(1) benign(0.006) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF25,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TGC . . 36720514 ZNF850 . GRCh38 chr19 36750112 36750112 + Missense_Mutation SNP G G C rs1198066469 7316-2669 BS_GNH80DDG G G c.928C>G p.His310Asp p.H310D ENST00000591344 5/5 73 64 7 35 35 0 ZNF850,missense_variant,p.His310Asp,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.His278Asp,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; C ENSG00000267041 ENST00000591344 Transcript missense_variant 1087/7714 928/3273 310/1090 H/D Cat/Gat rs1198066469,COSM3200031,COSM3200030 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 tolerated(0.08) benign(0.003) 5/5 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TGA . . 36750112 MAP3K10 . GRCh38 chr19 40192033 40192033 + Translation_Start_Site SNP T T G novel 7316-2669 BS_GNH80DDG T T c.2T>G p.Met1? p.M1? ENST00000253055 1/10 45 35 10 36 36 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; G ENSG00000130758 ENST00000253055 Transcript start_lost 290/3436 2/2865 1/954 M/R aTg/aGg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS ATG . . 40192033 ZNF283 . GRCh38 chr19 43848120 43848120 + Missense_Mutation SNP G G A rs866176047 7316-2669 BS_GNH80DDG G G c.1519G>A p.Val507Ile p.V507I ENST00000618787 7/7 58 46 5 43 42 0 ZNF283,missense_variant,p.Val507Ile,ENST00000618787,NM_181845.1;ZNF283,missense_variant,p.Val368Ile,ENST00000588797,NM_001297752.1;ZNF283,missense_variant,p.Val507Ile,ENST00000324461,; A ENSG00000167637 ENST00000618787 Transcript missense_variant 1816/5713 1519/2040 507/679 V/I Gta/Ata rs866176047 1 1 ZNF283 HGNC HGNC:13077 protein_coding YES CCDS46097.1 ENSP00000484852 Q8N7M2 UPI000155B91C NM_181845.1 tolerated(0.1) benign(0) 7/7 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377:SF142,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GGT . . 43848120 ZNF224 . GRCh38 chr19 44107706 44107706 + Missense_Mutation SNP A A G rs759466210 7316-2669 BS_GNH80DDG A A c.1546A>G p.Lys516Glu p.K516E ENST00000336976 6/6 54 44 5 41 39 1 ZNF224,missense_variant,p.Lys516Glu,ENST00000336976,NM_013398.3,NM_001321645.1;ZNF225,upstream_gene_variant,,ENST00000589155,;ZNF224,downstream_gene_variant,,ENST00000591511,;AC021092.1,non_coding_transcript_exon_variant,,ENST00000592946,;AC021092.1,downstream_gene_variant,,ENST00000590369,;ZNF224,non_coding_transcript_exon_variant,,ENST00000591551,; G ENSG00000267680 ENST00000336976 Transcript missense_variant 1800/3980 1546/2124 516/707 K/E Aag/Gag rs759466210 1 1 ZNF224 HGNC HGNC:13017 protein_coding YES CCDS33046.1 ENSP00000337368 Q9NZL3 UPI00002025B3 NM_013398.3,NM_001321645.1 tolerated(1) benign(0.006) 6/6 PDB-ENSP_mappings:2ysp.A,Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF44,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GAA . . 44107706 BBC3 . GRCh38 chr19 47228210 47228210 + Missense_Mutation SNP A A C novel 7316-2669 BS_GNH80DDG A A c.325T>G p.Phe109Val p.F109V ENST00000449228 2/4 54 44 9 21 20 0 BBC3,missense_variant,p.Phe109Val,ENST00000449228,NM_001127240.2;BBC3,synonymous_variant,p.Gly74=,ENST00000439096,NM_014417.4;BBC3,intron_variant,,ENST00000300880,NM_001127242.2;BBC3,intron_variant,,ENST00000341983,NM_001127241.2;MIR3190,downstream_gene_variant,,ENST00000577414,;MIR3191,upstream_gene_variant,,ENST00000636300,;BBC3,upstream_gene_variant,,ENST00000598636,;,regulatory_region_variant,,ENSR00000110520,; C ENSG00000105327 ENST00000449228 Transcript missense_variant 489/1827 325/786 109/261 F/V Ttc/Gtc 1 -1 BBC3 HGNC HGNC:17868 protein_coding YES CCDS46129.1 ENSP00000404503 Q96PG8 UPI000013E6A8 NM_001127240.2 tolerated_low_confidence(0.26) benign(0) 2/4 mobidb-lite,hmmpanther:PTHR28639 MODERATE 1 SNV 1 PASS AAC . . 47228210 PPP1R15A . GRCh38 chr19 48874266 48874266 + Missense_Mutation SNP T T C rs867499131 7316-2669 BS_GNH80DDG T T c.1033T>C p.Trp345Arg p.W345R ENST00000200453 2/3 51 44 5 42 41 1 PPP1R15A,missense_variant,p.Trp345Arg,ENST00000200453,NM_014330.3;PPP1R15A,upstream_gene_variant,,ENST00000600406,;,regulatory_region_variant,,ENSR00000110793,; C ENSG00000087074 ENST00000200453 Transcript missense_variant 1302/2378 1033/2025 345/674 W/R Tgg/Cgg rs867499131,COSM6213832 1 1 PPP1R15A HGNC HGNC:14375 protein_coding YES CCDS12738.1 ENSP00000200453 O75807 UPI000006F652 NM_014330.3 tolerated(1) benign(0) 2/3 mobidb-lite,hmmpanther:PTHR16489,hmmpanther:PTHR16489:SF14 0,1 MODERATE 1 SNV 1 0,1 PASS TTG . . 48874266 ZNF813 . GRCh38 chr19 53491533 53491533 + Missense_Mutation SNP G G C rs1306575204 7316-2669 BS_GNH80DDG G G c.1301G>C p.Ser434Thr p.S434T ENST00000396403 4/4 61 52 9 38 38 0 ZNF813,missense_variant,p.Ser434Thr,ENST00000396403,NM_001004301.3;ZNF813,downstream_gene_variant,,ENST00000468450,;ZNF813,downstream_gene_variant,,ENST00000490956,;AC022137.1,upstream_gene_variant,,ENST00000483735,; C ENSG00000198346 ENST00000396403 Transcript missense_variant 1429/6151 1301/1854 434/617 S/T aGt/aCt rs1306575204 1 1 ZNF813 HGNC HGNC:33257 protein_coding YES CCDS46172.1 ENSP00000379684 Q6ZN06 UPI000040C511 NM_001004301.3 tolerated(1) benign(0.006) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS AGT . . 53491533 C19orf85 . GRCh38 chr19 55464394 55464394 + Missense_Mutation SNP T T G novel 7316-2669 BS_GNH80DDG T T c.161A>C p.Asn54Thr p.N54T ENST00000635964 1/2 46 35 7 33 33 0 C19orf85,missense_variant,p.Asn54Thr,ENST00000635964,;ISOC2,upstream_gene_variant,,ENST00000085068,NM_024710.2;ISOC2,upstream_gene_variant,,ENST00000425675,NM_001136201.1;ISOC2,upstream_gene_variant,,ENST00000438389,NM_001136202.1;ISOC2,upstream_gene_variant,,ENST00000587226,;ISOC2,upstream_gene_variant,,ENST00000589080,;AC008735.5,downstream_gene_variant,,ENST00000623544,;ISOC2,upstream_gene_variant,,ENST00000589108,;ISOC2,upstream_gene_variant,,ENST00000591718,; G ENSG00000283567 ENST00000635964 Transcript missense_variant 314/1292 161/669 54/222 N/T aAc/aCc 1 -1 C19orf85 HGNC HGNC:53653 protein_coding YES ENSP00000490220 A0A1B0GUS0 UPI0007E52A47 deleterious_low_confidence(0) possibly_damaging(0.864) 1/2 MODERATE 1 SNV 2 PASS GTT . . 55464394 ZNF865 . GRCh38 chr19 55615092 55615092 + Missense_Mutation SNP T T G novel 7316-2669 BS_GNH80DDG T T c.1474T>G p.Tyr492Asp p.Y492D ENST00000568956 2/2 46 31 9 25 23 0 ZNF865,missense_variant,p.Tyr492Asp,ENST00000568956,NM_001195605.1;ZNF865,upstream_gene_variant,,ENST00000630143,;AC008735.4,upstream_gene_variant,,ENST00000614815,;,regulatory_region_variant,,ENSR00000111687,; G ENSG00000261221 ENST00000568956 Transcript missense_variant 1828/4005 1474/3180 492/1059 Y/D Tac/Gac 1 1 ZNF865 HGNC HGNC:38705 protein_coding YES CCDS58681.1 ENSP00000457715 P0CJ78 UPI0000D6181D NM_001195605.1 tolerated(0.08) unknown(0) 2/2 Gene3D:3.30.160.60,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF62,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GTA . . 55615092 ZNF211 . GRCh38 chr19 57641602 57641602 + Missense_Mutation SNP C C A 7316-2669 BS_GNH80DDG C C c.1311C>A p.Ser437Arg p.S437R ENST00000299871 5/5 66 57 7 52 49 0 ZNF211,missense_variant,p.Ser424Arg,ENST00000541801,NM_001265598.2;ZNF211,missense_variant,p.Ser437Arg,ENST00000299871,NM_001265597.2,NM_001322306.1;ZNF211,missense_variant,p.Ser372Arg,ENST00000347302,NM_198855.3;ZNF211,missense_variant,p.Ser385Arg,ENST00000240731,NM_006385.4;ZNF211,missense_variant,p.Ser311Arg,ENST00000391703,NM_001265600.2;ZNF211,missense_variant,p.Ser363Arg,ENST00000254182,NM_001265599.2;ZNF211,missense_variant,p.Ser376Arg,ENST00000407202,;ZNF211,3_prime_UTR_variant,,ENST00000540556,;ZNF211,3_prime_UTR_variant,,ENST00000535785,; A ENSG00000121417 ENST00000299871 Transcript missense_variant 1442/2577 1311/1890 437/629 S/R agC/agA COSM6455937,COSM6455936,COSM6455935,COSM6455934 1 1 ZNF211 HGNC HGNC:13003 protein_coding YES CCDS58686.1 ENSP00000299871 Q13398 UPI0000D4CB1A NM_001265597.2,NM_001322306.1 tolerated(0.06) probably_damaging(0.997) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF661,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1,1,1 MODERATE 1 SNV 3 1,1,1,1 PASS GCG . . 57641602 ZNF135 . GRCh38 chr19 58067892 58067892 + Missense_Mutation SNP C C G novel 7316-2669 BS_GNH80DDG C C c.1480C>G p.Gln494Glu p.Q494E ENST00000401053 4/4 63 50 10 28 26 1 ZNF135,missense_variant,p.Gln428Glu,ENST00000506786,NM_001289402.1;ZNF135,missense_variant,p.Gln494Glu,ENST00000401053,NM_001164527.1,NM_007134.1,NM_001164529.1;ZNF135,missense_variant,p.Gln470Glu,ENST00000313434,NM_001289401.1;ZNF135,missense_variant,p.Gln482Glu,ENST00000511556,NM_003436.3;ZNF135,intron_variant,,ENST00000359978,NM_001164530.1;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,; G ENSG00000176293 ENST00000401053 Transcript missense_variant 1483/3346 1480/2049 494/682 Q/E Cag/Gag 1 1 ZNF135 HGNC HGNC:12919 protein_coding YES CCDS54329.1 ENSP00000441410 P52742 UPI0001B3CB2A NM_001164527.1,NM_007134.1,NM_001164529.1 tolerated(1) benign(0.013) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF236,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TCA . . 58067892 KRTAP10-7 . GRCh38 chr21 44601096 44601096 + Missense_Mutation SNP A A G rs7283052 7316-2669 BS_GNH80DDG A A c.475A>G p.Ile159Val p.I159V ENST00000609664 1/1 76 55 13 60 58 1 KRTAP10-7,missense_variant,p.Ile159Val,ENST00000609664,NM_198689.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000622352,;TSPEAR,intron_variant,,ENST00000642437,;,regulatory_region_variant,,ENSR00000300629,; G ENSG00000272804 ENST00000609664 Transcript missense_variant 500/1578 475/1113 159/370 I/V Atc/Gtc rs7283052 1 1 KRTAP10-7 HGNC HGNC:22970 protein_coding YES CCDS74803.1 ENSP00000476821 P60409 UPI000021C43E NM_198689.2 tolerated(1) benign(0) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF142,Pfam_domain:PF13885 MODERATE SNV PASS CAT . . 0.009636 0.08532 0.009414 0.007036 0.0007398 0.001627 0.006206 0.007613 0.002327 44601096 COL6A1 . GRCh38 chr21 45994236 45994236 + Splice_Region SNP A A C novel 7316-2669 BS_GNH80DDG A A c.1398+7A>C ENST00000361866 69 52 14 32 29 0 COL6A1,splice_region_variant,,ENST00000361866,NM_001848.2;COL6A1,splice_region_variant,,ENST00000612273,; C ENSG00000142156 ENST00000361866 Transcript splice_region_variant,intron_variant 1 1 COL6A1 HGNC HGNC:2211 protein_coding YES CCDS13727.1 ENSP00000355180 P12109 UPI000019B179 NM_001848.2 20/34 LOW 1 SNV 1 1 PASS AAG . . 45994236 GSTT4 . GRCh38 chr22 24003829 24003829 + Missense_Mutation SNP C C T rs200981507 7316-2669 BS_GNH80DDG C C c.131G>A p.Gly44Glu p.G44E ENST00000621179 2/5 92 51 41 62 53 9 GSTT4,missense_variant,p.Gly44Glu,ENST00000621179,NM_001358664.1;GSTT4,missense_variant,p.Gly44Glu,ENST00000611600,;GSTT4,3_prime_UTR_variant,,ENST00000617532,;GSTT4,non_coding_transcript_exon_variant,,ENST00000612717,;AC253536.4,downstream_gene_variant,,ENST00000440539,; T ENSG00000276950 ENST00000621179 Transcript missense_variant 184/920 131/726 44/241 G/E gGa/gAa rs200981507 1 -1 GSTT4 HGNC HGNC:26930 protein_coding YES ENSP00000492273 A0A1W2PR19 UPI00097BA78E NM_001358664.1 tolerated(1) benign(0) 2/5 PROSITE_profiles:PS50404,SFLDS00019,SFLDG00358,hmmpanther:PTHR43917,hmmpanther:PTHR43917:SF2,Pfam_domain:PF13417,Gene3D:3.40.30.10,Superfamily_domains:SSF52833 MODERATE 1 SNV 5 PASS TCC . . 24003829 TRIOBP . GRCh38 chr22 37723794 37723794 + Missense_Mutation SNP A A G rs71317064 7316-2669 BS_GNH80DDG A A c.1238A>G p.Lys413Arg p.K413R ENST00000406386 7/24 73 51 13 36 36 0 TRIOBP,missense_variant,p.Lys413Arg,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Lys413Arg,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; G ENSG00000100106 ENST00000406386 Transcript missense_variant 1509/10145 1238/7098 413/2365 K/R aAa/aGa rs71317064,COSM230417 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 tolerated_low_confidence(1) benign(0) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 1 PASS AAA . . 5.702e-05 5.809e-05 4.484e-05 8.061e-05 0.0001842 6.555e-05 37723794 TUBGCP6 . GRCh38 chr22 50220746 50220746 + Missense_Mutation SNP T T C rs777904210 7316-2669 BS_GNH80DDG T T c.3613A>G p.Met1205Val p.M1205V ENST00000248846 16/25 68 39 8 32 28 1 TUBGCP6,missense_variant,p.Met1205Val,ENST00000439308,;TUBGCP6,missense_variant,p.Met1205Val,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; C ENSG00000128159 ENST00000248846 Transcript missense_variant 3718/5612 3613/5460 1205/1819 M/V Atg/Gtg rs777904210 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 tolerated(1) benign(0.001) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 MODERATE 1 SNV 1 1 PASS ATG . . 4.616e-06 7.872e-05 50220746 TUBGCP6 . GRCh38 chr22 50221042 50221042 + Missense_Mutation SNP A A G rs750362287 7316-2669 BS_GNH80DDG A A c.3317T>C p.Ile1106Thr p.I1106T ENST00000248846 16/25 50 35 5 30 28 1 TUBGCP6,missense_variant,p.Ile1106Thr,ENST00000439308,;TUBGCP6,missense_variant,p.Ile1106Thr,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; G ENSG00000128159 ENST00000248846 Transcript missense_variant 3422/5612 3317/5460 1106/1819 I/T aTc/aCc rs750362287 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 tolerated(0.08) benign(0.119) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 MODERATE 1 SNV 1 1 PASS GAT . . 50221042 MAPK8IP2 . GRCh38 chr22 50605554 50605554 + Splice_Region SNP A A C novel 7316-2669 BS_GNH80DDG A A c.1842-8A>C ENST00000329492 47 38 6 30 28 0 MAPK8IP2,splice_region_variant,,ENST00000329492,NM_012324.4;CHKB,upstream_gene_variant,,ENST00000463053,;MAPK8IP2,splice_region_variant,,ENST00000008876,; C ENSG00000008735 ENST00000329492 Transcript splice_region_variant,intron_variant 1 1 MAPK8IP2 HGNC HGNC:6883 protein_coding YES CCDS74886.1 ENSP00000330572 Q13387 UPI000012DAB7 NM_012324.4 6/11 LOW 1 SNV 1 PASS CAA . . 50605554 CSF2RA . GRCh38 chrX 1303256 1303256 + Splice_Region SNP C C G rs111716550 7316-2669 BS_GNH80DDG C C c.947-5C>G ENST00000417535 47 37 9 41 39 0 CSF2RA,splice_region_variant,,ENST00000417535,NM_001161530.1;CSF2RA,intron_variant,,ENST00000355432,NM_172246.2;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2;CSF2RA,intron_variant,,ENST00000381500,NM_172247.2;CSF2RA,intron_variant,,ENST00000381509,NM_001161531.1;CSF2RA,intron_variant,,ENST00000381524,;CSF2RA,intron_variant,,ENST00000381529,NM_172245.2,NM_006140.4;CSF2RA,intron_variant,,ENST00000432318,NM_001161529.1;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;RNA5SP498,upstream_gene_variant,,ENST00000411342,;CSF2RA,splice_region_variant,,ENST00000498153,;CSF2RA,intron_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000493312,;CSF2RA,intron_variant,,ENST00000486791,; G ENSG00000198223 ENST00000417535 Transcript splice_region_variant,intron_variant rs111716550,COSM5956785 1 1 CSF2RA HGNC HGNC:2435 protein_coding YES CCDS55359.1 ENSP00000394227 P15509 UPI000159C3E4 NM_001161530.1 10/13 0,1 LOW 1 SNV 5 0,1 1 PASS ACA . . 5.162e-05 0.000664 1303256 CSF2RA . GRCh38 chrX 1303299 1303299 + Missense_Mutation SNP A A T 7316-2669 BS_GNH80DDG A A c.985A>T p.Asn329Tyr p.N329Y ENST00000417535 11/14 73 51 12 45 44 0 CSF2RA,missense_variant,p.Asn329Tyr,ENST00000417535,NM_001161530.1;CSF2RA,intron_variant,,ENST00000355432,NM_172246.2;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2;CSF2RA,intron_variant,,ENST00000381500,NM_172247.2;CSF2RA,intron_variant,,ENST00000381509,NM_001161531.1;CSF2RA,intron_variant,,ENST00000381524,;CSF2RA,intron_variant,,ENST00000381529,NM_172245.2,NM_006140.4;CSF2RA,intron_variant,,ENST00000432318,NM_001161529.1;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;RNA5SP498,upstream_gene_variant,,ENST00000411342,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000498153,;CSF2RA,intron_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000493312,;CSF2RA,intron_variant,,ENST00000486791,; T ENSG00000198223 ENST00000417535 Transcript missense_variant 1179/1955 985/1305 329/434 N/Y Aat/Tat COSM5956821 1 1 CSF2RA HGNC HGNC:2435 protein_coding YES CCDS55359.1 ENSP00000394227 P15509 UPI000159C3E4 NM_001161530.1 tolerated(0.15) benign(0.007) 11/14 hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF94 1 MODERATE 1 SNV 5 1 1 PASS CAA . . 1303299 NR0B1 . GRCh38 chrX 30309188 30309188 + Missense_Mutation SNP T T G rs1444966850 7316-2669 BS_GNH80DDG T T c.176A>C p.Asn59Thr p.N59T ENST00000378970 1/2 73 53 11 47 45 0 NR0B1,missense_variant,p.Asn59Thr,ENST00000378970,NM_000475.4;NR0B1,upstream_gene_variant,,ENST00000378963,; G ENSG00000169297 ENST00000378970 Transcript missense_variant 411/2021 176/1413 59/470 N/T aAc/aCc rs1444966850 1 -1 NR0B1 HGNC HGNC:7960 protein_coding YES CCDS14223.1 ENSP00000368253 P51843 F1D8P4 UPI0000128ED4 NM_000475.4 tolerated_low_confidence(0.26) benign(0) 1/2 hmmpanther:PTHR24081:SF1,hmmpanther:PTHR24081 MODERATE 1 SNV 1 1 PASS GTT . . 30309188 FAM47C . GRCh38 chrX 37009189 37009189 + Missense_Mutation SNP T T A novel 7316-2669 BS_GNH80DDG T T c.779T>A p.Leu260Gln p.L260Q ENST00000358047 1/1 54 42 5 30 28 0 FAM47C,missense_variant,p.Leu260Gln,ENST00000358047,NM_001013736.2;,regulatory_region_variant,,ENSR00000340352,; A ENSG00000198173 ENST00000358047 Transcript missense_variant 793/3270 779/3108 260/1035 L/Q cTg/cAg 1 1 FAM47C HGNC HGNC:25301 protein_coding YES CCDS35227.1 ENSP00000367913 Q5HY64 UPI000041ABF8 NM_001013736.2 tolerated(0.36) benign(0.003) 1/1 mobidb-lite,hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642,Pfam_domain:PF14642 MODERATE 1 SNV 1 PASS CTG . . 37009189 FAM47C . GRCh38 chrX 37009347 37009347 + Missense_Mutation SNP T T A rs1271844239 7316-2669 BS_GNH80DDG T T c.937T>A p.Ser313Thr p.S313T ENST00000358047 1/1 50 34 9 40 37 1 FAM47C,missense_variant,p.Ser313Thr,ENST00000358047,NM_001013736.2;,regulatory_region_variant,,ENSR00000340352,; A ENSG00000198173 ENST00000358047 Transcript missense_variant 951/3270 937/3108 313/1035 S/T Tca/Aca rs1271844239 1 1 FAM47C HGNC HGNC:25301 protein_coding YES CCDS35227.1 ENSP00000367913 Q5HY64 UPI000041ABF8 NM_001013736.2 tolerated(1) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642 MODERATE 1 SNV 1 PASS GTC . . 37009347 FAM47C . GRCh38 chrX 37009886 37009886 + Missense_Mutation SNP C C G rs1210447750 7316-2669 BS_GNH80DDG C C c.1476C>G p.Asp492Glu p.D492E ENST00000358047 1/1 43 23 15 47 43 2 FAM47C,missense_variant,p.Asp492Glu,ENST00000358047,NM_001013736.2;,regulatory_region_variant,,ENSR00000340352,; G ENSG00000198173 ENST00000358047 Transcript missense_variant 1490/3270 1476/3108 492/1035 D/E gaC/gaG rs1210447750 1 1 FAM47C HGNC HGNC:25301 protein_coding YES CCDS35227.1 ENSP00000367913 Q5HY64 UPI000041ABF8 NM_001013736.2 tolerated_low_confidence(1) benign(0.005) 1/1 mobidb-lite,hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642,Pfam_domain:PF14642 MODERATE 1 SNV 1 PASS ACA . . 6.144e-06 6.009e-05 37009886 MAGEE1 . GRCh38 chrX 76428753 76428753 + Missense_Mutation SNP G G A rs1330294663 7316-2669 BS_GNH80DDG G G c.823G>A p.Ala275Thr p.A275T ENST00000361470 1/1 66 49 5 45 40 0 MAGEE1,missense_variant,p.Ala275Thr,ENST00000361470,NM_020932.2;,regulatory_region_variant,,ENSR00000247301,; A ENSG00000198934 ENST00000361470 Transcript missense_variant 1030/3630 823/2874 275/957 A/T Gcc/Acc rs1330294663,COSM1125357,COSM1125356 1 1 MAGEE1 HGNC HGNC:24934 protein_coding YES CCDS14433.1 ENSP00000354912 Q9HCI5 UPI000006F138 NM_020932.2 tolerated_low_confidence(1) benign(0) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF9,mobidb-lite 0,1,1 MODERATE 1 SNV 0,1,1 PASS CGC . . 76428753 ARMCX4 . GRCh38 chrX 101491003 101491003 + Missense_Mutation SNP A A G rs944358836 7316-2669 BS_GNH80DDG A A c.2414A>G p.Lys805Arg p.K805R ENST00000423738 2/2 69 54 10 29 27 0 ARMCX4,missense_variant,p.Lys805Arg,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; G ENSG00000196440 ENST00000423738 Transcript missense_variant 2616/7424 2414/6873 805/2290 K/R aAg/aGg rs944358836 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.29) probably_damaging(0.981) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS AAG . . 101491003 ARMCX4 . GRCh38 chrX 101491094 101491094 + Missense_Mutation SNP T T A novel 7316-2669 BS_GNH80DDG T T c.2505T>A p.Asn835Lys p.N835K ENST00000423738 2/2 70 45 6 34 31 0 ARMCX4,missense_variant,p.Asn835Lys,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; A ENSG00000196440 ENST00000423738 Transcript missense_variant 2707/7424 2505/6873 835/2290 N/K aaT/aaA 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.06) benign(0.024) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS ATT . . 101491094 TEX13D . GRCh38 chrX 124334806 124334806 + Missense_Mutation SNP G G A rs1023730611 7316-2669 BS_GNH80DDG G G c.1889G>A p.Gly630Asp p.G630D ENST00000632372 1/1 67 55 8 38 38 0 TEX13D,missense_variant,p.Gly630Asp,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; A ENSG00000282419 ENST00000632372 Transcript missense_variant 2147/4203 1889/2145 630/714 G/D gGc/gAc rs1023730611,COSM5956512 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.52) benign(0.035) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite 0,1 MODERATE 1 SNV 0,1 PASS GGC . . 124334806 MAGEC1 . GRCh38 chrX 141906336 141906336 + Missense_Mutation SNP C C A 7316-2669 BS_GNH80DDG C C c.932C>A p.Ser311Tyr p.S311Y ENST00000285879 4/4 55 37 7 41 38 0 MAGEC1,missense_variant,p.Ser311Tyr,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; A ENSG00000155495 ENST00000285879 Transcript missense_variant 1218/4270 932/3429 311/1142 S/Y tCc/tAc COSM4156634 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 deleterious_low_confidence(0.05) benign(0) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS TCC . . 141906336 PRAMEF10 . GRCh38 chr1 12892965 12892965 + Missense_Mutation SNP T T G rs1406314759 7316-183 BS_DMP1BV1H T T c.1376A>C p.Asn459Thr p.N459T ENST00000235347 4/4 41 35 6 24 23 0 PRAMEF10,missense_variant,p.Asn459Thr,ENST00000235347,NM_001039361.4; G ENSG00000187545 ENST00000235347 Transcript missense_variant 1456/1525 1376/1425 459/474 N/T aAc/aCc rs1406314759 1 -1 PRAMEF10 HGNC HGNC:27997 protein_coding YES CCDS41255.1 ENSP00000235347 O60809 UPI000442CF00 NM_001039361.4 tolerated(0.25) benign(0) 4/4 PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF28 MODERATE 1 SNV 1 PASS GTT . . 12892965 PDE4DIP . GRCh38 chr1 149005208 149005208 + Missense_Mutation SNP C C T rs2798901 7316-183 BS_DMP1BV1H C C c.4186C>T p.Arg1396Trp p.R1396W ENST00000369356 27/44 74 53 20 36 35 1 PDE4DIP,missense_variant,p.Arg1532Trp,ENST00000585156,;PDE4DIP,missense_variant,p.Arg1396Trp,ENST00000369356,NM_001198834.3;PDE4DIP,missense_variant,p.Arg1532Trp,ENST00000524974,;PDE4DIP,missense_variant,p.Arg1396Trp,ENST00000369354,NM_014644.5;PDE4DIP,missense_variant,p.Arg1352Trp,ENST00000618462,NM_001198832.2;AC239802.1,downstream_gene_variant,,ENST00000531288,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,upstream_gene_variant,,ENST00000479369,; T ENSG00000178104 ENST00000369356 Transcript missense_variant 4477/8307 4186/7089 1396/2362 R/W Cgg/Tgg rs2798901 1 1 PDE4DIP HGNC HGNC:15580 protein_coding YES CCDS72892.1 ENSP00000358363 Q5VU43 A0A0A0MRM1 UPI000292EFC6 NM_001198834.3 deleterious(0) possibly_damaging(0.843) 27/44 hmmpanther:PTHR13140:SF501,hmmpanther:PTHR13140 0.2899 0.4622 0.2752 0.0704 0.3549 0.227 MODERATE 1 SNV 1 1 PASS CCG . . 4.068e-06 8.984e-06 149005208 IDH1 . GRCh38 chr2 208248388 208248388 + Missense_Mutation SNP C C T rs121913500 7316-183 BS_DMP1BV1H C C c.395G>A p.Arg132His p.R132H ENST00000415913 4/10 77 52 24 34 32 0 IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.3;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,; T ENSG00000138413 ENST00000415913 Transcript missense_variant 777/2441 395/1245 132/414 R/H cGt/cAt rs121913500,CM1310533,COSM28750,COSM28746 1 -1 IDH1 HGNC HGNC:5382 protein_coding YES CCDS2381.1 ENSP00000390265 O75874 V9HWJ2 UPI000012D1B4 NM_001282387.1 deleterious_low_confidence(0.01) benign(0.047) 4/10 PDB-ENSP_mappings:1t09.A,PDB-ENSP_mappings:1t09.B,PDB-ENSP_mappings:1t0l.A,PDB-ENSP_mappings:1t0l.B,PDB-ENSP_mappings:1t0l.C,PDB-ENSP_mappings:1t0l.D,Gene3D:3.40.718.10,PDB-ENSP_mappings:3inm.A,PDB-ENSP_mappings:3inm.B,PDB-ENSP_mappings:3inm.C,PDB-ENSP_mappings:3map.A,PDB-ENSP_mappings:3map.B,PDB-ENSP_mappings:3mar.A,PDB-ENSP_mappings:3mar.B,PDB-ENSP_mappings:3mas.A,PDB-ENSP_mappings:3mas.B,PDB-ENSP_mappings:4i3k.A,PDB-ENSP_mappings:4i3k.B,PDB-ENSP_mappings:4i3l.A,PDB-ENSP_mappings:4i3l.B,PDB-ENSP_mappings:4kzo.A,PDB-ENSP_mappings:4kzo.B,PDB-ENSP_mappings:4kzo.C,PDB-ENSP_mappings:4l03.A,PDB-ENSP_mappings:4l03.B,PDB-ENSP_mappings:4l03.C,PDB-ENSP_mappings:4l04.A,PDB-ENSP_mappings:4l04.B,PDB-ENSP_mappings:4l04.C,PDB-ENSP_mappings:4l04.D,PDB-ENSP_mappings:4l04.E,PDB-ENSP_mappings:4l04.F,PDB-ENSP_mappings:4l06.A,PDB-ENSP_mappings:4l06.B,PDB-ENSP_mappings:4l06.C,PDB-ENSP_mappings:4l06.D,PDB-ENSP_mappings:4l06.E,PDB-ENSP_mappings:4l06.F,PDB-ENSP_mappings:4umx.A,PDB-ENSP_mappings:4umx.B,PDB-ENSP_mappings:4umy.A,PDB-ENSP_mappings:4umy.B,PDB-ENSP_mappings:4xrx.A,PDB-ENSP_mappings:4xrx.B,PDB-ENSP_mappings:4xs3.A,PDB-ENSP_mappings:4xs3.B,PDB-ENSP_mappings:5de1.A,PDB-ENSP_mappings:5de1.B,PDB-ENSP_mappings:5gir.C,PDB-ENSP_mappings:5gir.D,PDB-ENSP_mappings:5k10.A,PDB-ENSP_mappings:5k10.B,PDB-ENSP_mappings:5k11.A,PDB-ENSP_mappings:5k11.B,PDB-ENSP_mappings:5l57.A,PDB-ENSP_mappings:5l58.A,PDB-ENSP_mappings:5lge.A,PDB-ENSP_mappings:5lge.B,PDB-ENSP_mappings:5lge.C,PDB-ENSP_mappings:5lge.D,PDB-ENSP_mappings:5sun.A,PDB-ENSP_mappings:5sun.B,PDB-ENSP_mappings:5svf.A,PDB-ENSP_mappings:5svf.B,PDB-ENSP_mappings:5svf.C,PDB-ENSP_mappings:5svf.D,PDB-ENSP_mappings:5tqh.A,PDB-ENSP_mappings:5tqh.B,PDB-ENSP_mappings:5tqh.C,PDB-ENSP_mappings:5tqh.D,PDB-ENSP_mappings:5yfm.A,PDB-ENSP_mappings:5yfm.B,PDB-ENSP_mappings:5yfm.C,PDB-ENSP_mappings:5yfn.A,PDB-ENSP_mappings:5yfn.B,PDB-ENSP_mappings:6b0z.A,PDB-ENSP_mappings:6b0z.B,PDB-ENSP_mappings:6b0z.C,PDB-ENSP_mappings:6b0z.D,Pfam_domain:PF00180,PIRSF_domain:PIRSF000108,hmmpanther:PTHR11822,hmmpanther:PTHR11822:SF21,SMART_domains:SM01329,Superfamily_domains:SSF53659,TIGRFAM_domain:TIGR00127 not_provided,likely_pathogenic,pathogenic 0,0,1,1 18772396,21446021,25043048 MODERATE 1 SNV 1 1,1,1,1 1 PASS ACG . . 208248388 KIF13B . GRCh38 chr8 29146543 29146543 + Splice_Region DEL A A - rs747503751 7316-183 BS_DMP1BV1H A A c.2025-3del ENST00000524189 68 60 5 26 26 0 KIF13B,splice_region_variant,,ENST00000521515,;KIF13B,splice_region_variant,,ENST00000524189,NM_015254.3;KIF13B,splice_region_variant,,ENST00000522355,;KIF13B,downstream_gene_variant,,ENST00000523968,; - ENSG00000197892 ENST00000524189 Transcript splice_region_variant,intron_variant rs747503751,COSM5358611,COSM5358612 1 -1 KIF13B HGNC HGNC:14405 protein_coding YES CCDS55217.1 ENSP00000427900 Q9NQT8 UPI000035B257 NM_015254.3 17/39 0,1,1 LOW 1 deletion 1 0,1,1 PASS CTAA . . 0.0008015 0.0004507 0.0009057 0.0009058 0.0004193 0.0007554 0.0007534 0.0006903 0.00132 29146542 PTGR1 . GRCh38 chr9 111578959 111578959 + Splice_Region SNP G G A rs879063159 7316-183 BS_DMP1BV1H G G c.496-8C>T ENST00000407693 51 41 6 39 37 1 PTGR1,splice_region_variant,,ENST00000309195,NM_012212.3;PTGR1,splice_region_variant,,ENST00000407693,NM_001146108.1;PTGR1,splice_region_variant,,ENST00000538962,NM_001146109.1;ZNF483,downstream_gene_variant,,ENST00000358151,NM_001007169.3;PTGR1,downstream_gene_variant,,ENST00000422125,;AL135787.1,downstream_gene_variant,,ENST00000450154,;PTGR1,splice_region_variant,,ENST00000374324,;PTGR1,upstream_gene_variant,,ENST00000466771,; A ENSG00000106853 ENST00000407693 Transcript splice_region_variant,intron_variant rs879063159 1 -1 PTGR1 HGNC HGNC:18429 protein_coding YES CCDS6779.1 ENSP00000385763 Q14914 UPI000012E24A NM_001146108.1 6/9 LOW 1 SNV 1 PASS AGA . . 0.02159 0.01753 0.02045 0.02638 0.01972 0.04088 0.01849 0.0179 0.02377 111578959 AGAP12P . GRCh38 chr10 48031373 48031373 + Splice_Region SNP T T C rs782112615 7316-183 BS_DMP1BV1H T T n.224+3A>G ENST00000585227 48 40 8 22 21 0 AGAP12P,splice_region_variant,,ENST00000603888,;AGAP12P,splice_region_variant,,ENST00000585227,; C ENSG00000265018 ENST00000585227 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs782112615 1 -1 AGAP12P HGNC HGNC:23661 transcribed_unprocessed_pseudogene YES 1/7 LOW 1 SNV PASS TTA . . 0.1198 0.0753 0.06525 0.1631 0.02149 0.1479 0.1562 0.1322 0.1117 48031373 GALNT18 . GRCh38 chr11 11377344 11377344 + Missense_Mutation SNP C C T rs777463455 7316-183 BS_DMP1BV1H C C c.815G>A p.Arg272Gln p.R272Q ENST00000227756 5/11 64 41 23 42 39 3 GALNT18,missense_variant,p.Arg272Gln,ENST00000227756,NM_198516.2; T ENSG00000110328 ENST00000227756 Transcript missense_variant 1227/2504 815/1824 272/607 R/Q cGg/cAg rs777463455,COSM311365,COSM1207874 1 -1 GALNT18 HGNC HGNC:30488 protein_coding YES CCDS7807.1 ENSP00000227756 Q6P9A2 Q58A54 UPI000004B63C NM_198516.2 deleterious(0) possibly_damaging(0.834) 5/11 cd02510,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF37,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCG . . 4.876e-05 0.0001307 8.934e-05 5.802e-05 2.689e-05 9.746e-05 11377344 IGHV3-11 . GRCh38 chr14 106116668 106116668 + Missense_Mutation SNP G G T novel 7316-183 BS_DMP1BV1H G G c.320C>A p.Ala107Asp p.A107D ENST00000390601 2/2 38 32 6 29 28 0 IGHV3-11,missense_variant,p.Ala107Asp,ENST00000390601,;,regulatory_region_variant,,ENSR00000073874,;,regulatory_region_variant,,ENSR00000276368,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; T ENSG00000211941 ENST00000390601 Transcript missense_variant 440/473 320/353 107/117 A/D gCc/gAc 1 -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762 UPI0002C6D522 deleterious_low_confidence(0.04) benign(0.115) 2/2 MODERATE 1 SNV PASS GGC . . 106116668 TYRO3 . GRCh38 chr15 41573327 41573327 + Missense_Mutation SNP G G T rs62001448 7316-183 BS_DMP1BV1H G G c.2005G>T p.Val669Leu p.V669L ENST00000263798 17/19 72 60 12 26 26 0 TYRO3,missense_variant,p.Val669Leu,ENST00000263798,NM_006293.3;TYRO3,missense_variant,p.Val624Leu,ENST00000559066,;TYRO3,missense_variant,p.Val146Leu,ENST00000568343,;TYRO3,3_prime_UTR_variant,,ENST00000559851,;TYRO3,non_coding_transcript_exon_variant,,ENST00000560162,;TYRO3,downstream_gene_variant,,ENST00000559815,;TYRO3,upstream_gene_variant,,ENST00000568490,; T ENSG00000092445 ENST00000263798 Transcript missense_variant 2229/8207 2005/2673 669/890 V/L Gtg/Ttg rs62001448,COSM3738200 1 1 TYRO3 HGNC HGNC:12446 protein_coding YES CCDS10080.1 ENSP00000263798 Q06418 UPI000013788A NM_006293.3 deleterious(0) probably_damaging(0.994) 17/19 Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000615,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,SMART_domains:SM00219,Superfamily_domains:SSF56112,cd05074 0,1 MODERATE 1 SNV 1 0,1 PASS AGT . . 0.06193 0.01683 0.05459 0.1784 0.005477 0.04364 0.07745 0.1025 0.05036 41573327 ZNF676 . GRCh38 chr19 22180611 22180611 + Missense_Mutation SNP C C T rs75690456 7316-183 BS_DMP1BV1H C C c.1106G>A p.Gly369Glu p.G369E ENST00000397121 3/3 90 78 9 41 41 0 ZNF676,missense_variant,p.Gly369Glu,ENST00000397121,NM_001001411.2; T ENSG00000196109 ENST00000397121 Transcript missense_variant 1424/2944 1106/1767 369/588 G/E gGa/gAa rs75690456,COSM6482756,COSM3756559 1 -1 ZNF676 HGNC HGNC:20429 protein_coding YES CCDS42539.1 ENSP00000380310 Q8N7Q3 UPI00002376EC NM_001001411.2 tolerated(1) benign(0.007) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TCC . . 0.0005689 0.0006437 0.0009262 0.0007993 0.001968 4.821e-05 0.0003848 0.0007236 0.0006322 22180611 NAPA . GRCh38 chr19 47495584 47495588 + Frame_Shift_Del DEL CAGTT CAGTT - 7316-183 BS_DMP1BV1H CAGTT CAGTT c.304_308del p.Asn102PhefsTer26 p.N102Ffs*26 ENST00000263354 4/11 59 52 5 32 31 0 NAPA,frameshift_variant,p.Asn102PhefsTer26,ENST00000263354,NM_003827.3;NAPA,frameshift_variant,p.Asn63PhefsTer26,ENST00000595227,;NAPA,frameshift_variant,p.Asn112PhefsTer26,ENST00000593761,;NAPA,frameshift_variant,p.Asn52PhefsTer26,ENST00000597118,;NAPA,frameshift_variant,p.Asn43PhefsTer26,ENST00000594155,;NAPA,5_prime_UTR_variant,,ENST00000598615,;NAPA-AS1,non_coding_transcript_exon_variant,,ENST00000593284,;NAPA-AS1,intron_variant,,ENST00000594367,;NAPA,non_coding_transcript_exon_variant,,ENST00000595826,;NAPA,non_coding_transcript_exon_variant,,ENST00000596892,;NAPA,downstream_gene_variant,,ENST00000593785,;NAPA,downstream_gene_variant,,ENST00000597160,;NAPA,stop_lost,,ENST00000594001,;NAPA,stop_lost,,ENST00000597274,;NAPA,3_prime_UTR_variant,,ENST00000601208,;NAPA,non_coding_transcript_exon_variant,,ENST00000597778,;NAPA,non_coding_transcript_exon_variant,,ENST00000602082,;NAPA,non_coding_transcript_exon_variant,,ENST00000594740,;NAPA,non_coding_transcript_exon_variant,,ENST00000602174,;NAPA,non_coding_transcript_exon_variant,,ENST00000594288,;NAPA,non_coding_transcript_exon_variant,,ENST00000601927,;NAPA,upstream_gene_variant,,ENST00000593905,;NAPA,upstream_gene_variant,,ENST00000594217,;NAPA,upstream_gene_variant,,ENST00000597271,; - ENSG00000105402 ENST00000263354 Transcript frameshift_variant 604-608/1839 304-308/888 102-103/295 NC/X AACTGt/t COSM6864791 1 -1 NAPA HGNC HGNC:7641 protein_coding YES CCDS12702.1 ENSP00000263354 P54920 A0A024R0R9 UPI00000012C7 NM_003827.3 4/11 Gene3D:1.25.40.10,Pfam_domain:PF14938,Prints_domain:PR00448,hmmpanther:PTHR13768,hmmpanther:PTHR13768:SF22,Superfamily_domains:SSF48452,cd15832 1 HIGH 1 deletion 1 1 PASS AACAGTTA . . 47495583 PIK3CD . GRCh38 chr1 9724279 9724279 + Missense_Mutation SNP T T G novel 7316-127 BS_7FHJGTZG T T c.2722T>G p.Phe908Val p.F908V ENST00000377346 22/24 67 49 16 38 37 0 PIK3CD,missense_variant,p.Phe932Val,ENST00000536656,;PIK3CD,missense_variant,p.Phe932Val,ENST00000628140,;PIK3CD,missense_variant,p.Phe908Val,ENST00000377346,NM_005026.3,NM_001350234.1;PIK3CD,missense_variant,p.Phe932Val,ENST00000361110,;PIK3CD,missense_variant,p.Phe932Val,ENST00000543390,;CLSTN1,downstream_gene_variant,,ENST00000361311,NM_014944.4;CLSTN1,downstream_gene_variant,,ENST00000377298,NM_001009566.2,NM_001302883.1;CLSTN1,downstream_gene_variant,,ENST00000435891,;CLSTN1,downstream_gene_variant,,ENST00000477264,; G ENSG00000171608 ENST00000377346 Transcript missense_variant 2917/5203 2722/3135 908/1044 F/V Ttc/Gtc 1 1 PIK3CD HGNC HGNC:8977 protein_coding YES CCDS104.1 ENSP00000366563 O00329 A0A2K8FKV1 UPI000013E807 NM_005026.3,NM_001350234.1 deleterious(0) probably_damaging(0.995) 22/24 PROSITE_profiles:PS50290,cd05174,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,Pfam_domain:PF00454,PIRSF_domain:PIRSF000587,SMART_domains:SM00146,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 1 PASS GTT . . 9724279 HYI . GRCh38 chr1 43453604 43453604 + Missense_Mutation SNP T T G novel 7316-127 BS_7FHJGTZG T T c.190A>C p.Thr64Pro p.T64P ENST00000372434 1/9 70 51 13 49 45 0 HYI,missense_variant,p.Thr64Pro,ENST00000583037,NM_001243526.1,NM_001330526.1;HYI,missense_variant,p.Thr64Pro,ENST00000372425,NM_001190880.2;HYI,missense_variant,p.Thr64Pro,ENST00000372432,NM_031207.5;HYI,missense_variant,p.Thr64Pro,ENST00000372434,;HYI,missense_variant,p.Thr64Pro,ENST00000486909,;HYI,missense_variant,p.Thr25Pro,ENST00000372430,;HYI,missense_variant,p.Thr39Pro,ENST00000372433,;SZT2,3_prime_UTR_variant,,ENST00000562955,NM_015284.3;HYI,upstream_gene_variant,,ENST00000470662,;HYI,upstream_gene_variant,,ENST00000487366,;SZT2,downstream_gene_variant,,ENST00000634258,;MIR6735,downstream_gene_variant,,ENST00000615179,;SZT2-AS1,upstream_gene_variant,,ENST00000396885,;HYI-AS1,upstream_gene_variant,,ENST00000444386,;HYI,non_coding_transcript_exon_variant,,ENST00000372427,;HYI,non_coding_transcript_exon_variant,,ENST00000469587,;SZT2,downstream_gene_variant,,ENST00000460536,;HYI,upstream_gene_variant,,ENST00000483618,;HYI,upstream_gene_variant,,ENST00000496142,;SZT2,downstream_gene_variant,,ENST00000638263,;SZT2,downstream_gene_variant,,ENST00000640484,;,regulatory_region_variant,,ENSR00000005594,; G ENSG00000178922 ENST00000372434 Transcript missense_variant 222/1025 190/909 64/302 T/P Acg/Ccg 1 -1 HYI HGNC HGNC:26948 protein_coding YES CCDS81313.1 ENSP00000361511 F6UJY1 UPI000268AE2F deleterious(0.02) probably_damaging(0.971) 1/9 Gene3D:3.20.20.150,Pfam_domain:PF01261,PIRSF_domain:PIRSF006241,hmmpanther:PTHR43489,hmmpanther:PTHR43489:SF6,Superfamily_domains:SSF51658 MODERATE SNV 5 PASS GTG . . 43453604 TCHH . GRCh38 chr1 152108741 152108741 + Missense_Mutation SNP T T A 7316-127 BS_7FHJGTZG T T c.4476A>T p.Gln1492His p.Q1492H ENST00000614923 3/3 60 45 8 41 38 0 TCHH,missense_variant,p.Gln1492His,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Gln1492His,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 4571/6995 4476/5832 1492/1943 Q/H caA/caT COSM267557 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 deleterious_low_confidence(0) possibly_damaging(0.648) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 1 MODERATE 1 SNV 5 1 1 PASS GTT . . 152108741 YY1AP1 . GRCh38 chr1 155679455 155679455 + Missense_Mutation SNP G G A rs550862847 7316-127 BS_7FHJGTZG G G c.493C>T p.Arg165Cys p.R165C ENST00000368339 3/10 69 39 29 44 44 0 YY1AP1,missense_variant,p.Arg165Cys,ENST00000368339,NM_001198903.1;YY1AP1,missense_variant,p.Arg165Cys,ENST00000368340,NM_001198904.1;YY1AP1,missense_variant,p.Arg16Cys,ENST00000361831,NM_018253.3,NM_139121.2;YY1AP1,missense_variant,p.Arg16Cys,ENST00000407221,;YY1AP1,missense_variant,p.Arg16Cys,ENST00000359205,NM_001198899.1,NM_001198900.1;YY1AP1,missense_variant,p.Arg16Cys,ENST00000311573,;YY1AP1,missense_variant,p.Arg27Cys,ENST00000355499,NM_139119.2;YY1AP1,missense_variant,p.Arg27Cys,ENST00000404643,NM_001198905.1;YY1AP1,missense_variant,p.Arg93Cys,ENST00000295566,NM_001198906.1,NM_139118.2;YY1AP1,missense_variant,p.Arg27Cys,ENST00000368330,NM_001198901.1;YY1AP1,missense_variant,p.Arg27Cys,ENST00000347088,NM_001198902.1;YY1AP1,missense_variant,p.Arg165Cys,ENST00000405763,;YY1AP1,missense_variant,p.Arg16Cys,ENST00000443231,;YY1AP1,missense_variant,p.Arg27Cys,ENST00000454523,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000476093,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000493625,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000476027,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000466366,;YY1AP1,upstream_gene_variant,,ENST00000477470,;YY1AP1,upstream_gene_variant,,ENST00000488784,;YY1AP1,missense_variant,p.Arg27Cys,ENST00000361140,;YY1AP1,missense_variant,p.Arg27Cys,ENST00000436865,;YY1AP1,missense_variant,p.Arg27Cys,ENST00000354691,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000496324,; A ENSG00000163374 ENST00000368339 Transcript missense_variant 685/3073 493/2667 165/888 R/C Cgt/Tgt rs550862847 1 -1 YY1AP1 HGNC HGNC:30935 protein_coding YES CCDS55645.1 ENSP00000357323 Q9H869 UPI0001AE792F NM_001198903.1 tolerated(0.06) benign(0.031) 3/10 hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF9 0.0002 0.001 MODERATE 1 SNV 2 1 PASS CGC . . 0.0001218 0.0001015 4.476e-05 0.0007797 155679455 NR5A2 . GRCh38 chr1 200048167 200048167 + Splice_Region SNP A A C rs1489721916 7316-127 BS_7FHJGTZG A A c.464-5A>C ENST00000367362 56 44 11 43 42 1 NR5A2,splice_region_variant,,ENST00000236914,NM_003822.4;NR5A2,splice_region_variant,,ENST00000367357,;NR5A2,splice_region_variant,,ENST00000367362,NM_205860.2;NR5A2,splice_region_variant,,ENST00000544748,NM_001276464.1;NR5A2,downstream_gene_variant,,ENST00000474307,;,regulatory_region_variant,,ENSR00000017893,; C ENSG00000116833 ENST00000367362 Transcript splice_region_variant,intron_variant rs1489721916 1 1 NR5A2 HGNC HGNC:7984 protein_coding YES CCDS1401.1 ENSP00000356331 O00482 UPI0000130482 NM_205860.2 4/7 LOW 1 SNV 1 PASS CAA . . 4.294e-06 3.256e-05 200048167 ALMS1 . GRCh38 chr2 73450551 73450551 + Missense_Mutation SNP G G T novel 7316-127 BS_7FHJGTZG G G c.4024G>T p.Val1342Phe p.V1342F ENST00000613296 8/23 64 49 9 47 43 0 ALMS1,missense_variant,p.Val1342Phe,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Val1300Phe,ENST00000484298,;ALMS1,missense_variant,p.Val1342Phe,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; T ENSG00000116127 ENST00000613296 Transcript missense_variant 4135/12925 4024/12507 1342/4168 V/F Gtt/Ttt 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 deleterious(0.03) benign(0.323) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS TGT . . 73450551 ERFE . GRCh38 chr2 238159150 238159150 + Missense_Mutation SNP A A C novel 7316-127 BS_7FHJGTZG A A c.143A>C p.Asn48Thr p.N48T ENST00000546354 1/8 33 23 9 37 37 0 ERFE,missense_variant,p.Asn48Thr,ENST00000546354,NM_001291832.1;KLHL30-AS1,upstream_gene_variant,,ENST00000623136,;ERFE,non_coding_transcript_exon_variant,,ENST00000486834,;ERFE,upstream_gene_variant,,ENST00000473274,;ERFE,upstream_gene_variant,,ENST00000479091,;ERFE,upstream_gene_variant,,ENST00000481917,;,regulatory_region_variant,,ENSR00000132791,; C ENSG00000178752 ENST00000546354 Transcript missense_variant 143/1065 143/1065 48/354 N/T aAc/aCc 1 1 ERFE HGNC HGNC:26727 protein_coding YES CCDS77548.1 ENSP00000442304 Q4G0M1 UPI0000F07B77 NM_001291832.1 tolerated(0.36) unknown(0) 1/8 hmmpanther:PTHR24019,hmmpanther:PTHR24019:SF11,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 238159150 TRAF3IP1 . GRCh38 chr2 238397683 238397683 + Splice_Region SNP G G A rs147792234 7316-127 BS_7FHJGTZG G G c.1910+4G>A ENST00000373327 47 38 6 34 32 0 TRAF3IP1,splice_region_variant,,ENST00000373327,NM_015650.3;TRAF3IP1,splice_region_variant,,ENST00000391993,NM_001139490.1;TRAF3IP1,splice_region_variant,,ENST00000483951,;TRAF3IP1,downstream_gene_variant,,ENST00000462122,;,regulatory_region_variant,,ENSR00000132827,; A ENSG00000204104 ENST00000373327 Transcript splice_region_variant,intron_variant rs147792234 1 1 TRAF3IP1 HGNC HGNC:17861 protein_coding YES CCDS33415.1 ENSP00000362424 Q8TDR0 UPI0000070E5D NM_015650.3 16/16 LOW 1 SNV 1 1 PASS GGG . . 8.989e-05 7.177e-05 0.0002433 0.0001054 0.0001785 2.879e-05 0.0001656 238397683 MUC4 . GRCh38 chr3 195784148 195784148 + Missense_Mutation SNP T T A 7316-127 BS_7FHJGTZG T T c.7432A>T p.Thr2478Ser p.T2478S ENST00000463781 2/25 44 26 6 31 24 0 MUC4,missense_variant,p.Thr2478Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr2478Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr2478Ser,ENST00000478156,;MUC4,missense_variant,p.Thr2478Ser,ENST00000466475,;MUC4,missense_variant,p.Thr2478Ser,ENST00000477756,;MUC4,missense_variant,p.Thr2478Ser,ENST00000477086,;MUC4,missense_variant,p.Thr2478Ser,ENST00000480843,;MUC4,missense_variant,p.Thr2478Ser,ENST00000462323,;MUC4,missense_variant,p.Thr2478Ser,ENST00000470451,;MUC4,missense_variant,p.Thr2478Ser,ENST00000479406,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 7892/17110 7432/16239 2478/5412 T/S Acc/Tcc COSM2945461 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.31) benign(0.301) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS GTG . . 195784148 AC018680.1 . GRCh38 chr4 136118987 136118988 + Splice_Region INS - - A rs112165525 7316-127 BS_7FHJGTZG - - n.569-7dup ENST00000513332 57 38 10 28 25 0 AC018680.1,splice_region_variant,,ENST00000513332,; A ENSG00000251567 ENST00000513332 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs112165525 1 -1 AC018680.1 Clone_based_ensembl_gene lincRNA YES 3/3 LOW 1 insertion 3 PASS TTA . . 136118987 C4orf46 . GRCh38 chr4 158669771 158669771 + Splice_Region DEL A A - rs773102178 7316-127 BS_7FHJGTZG A A c.187-3del ENST00000379205 45 37 5 42 42 0 C4orf46,splice_region_variant,,ENST00000379205,NM_001008393.3;C4orf46,splice_region_variant,,ENST00000508457,;ETFDH,upstream_gene_variant,,ENST00000307738,NM_001281738.1,NM_001281737.1;ETFDH,upstream_gene_variant,,ENST00000507475,;ETFDH,upstream_gene_variant,,ENST00000511912,NM_004453.3;ETFDH,upstream_gene_variant,,ENST00000512251,;C4orf46,splice_region_variant,,ENST00000508836,;ETFDH,upstream_gene_variant,,ENST00000436096,;ETFDH,upstream_gene_variant,,ENST00000506422,;ETFDH,upstream_gene_variant,,ENST00000510353,; - ENSG00000205208 ENST00000379205 Transcript splice_region_variant,intron_variant rs773102178,TMP_ESP_4_159590923_159590923,COSM1736000 1 -1 C4orf46 HGNC HGNC:27320 protein_coding YES CCDS34088.1 ENSP00000368503 Q504U0 UPI000015D968 NM_001008393.3 1/1 0.08622 0.09061 0,0,1 LOW 1 deletion 1 0,0,1 PASS CTAA . . 0.06143 0.06149 0.09065 0.07199 0.04967 0.02094 0.06218 0.07329 0.08227 158669770 ZSWIM6 . GRCh38 chr5 61525961 61525961 + Missense_Mutation SNP T T G novel 7316-127 BS_7FHJGTZG T T c.1675T>G p.Trp559Gly p.W559G ENST00000252744 6/14 74 62 9 35 34 0 ZSWIM6,missense_variant,p.Trp559Gly,ENST00000252744,NM_020928.1;,regulatory_region_variant,,ENSR00000181407,; G ENSG00000130449 ENST00000252744 Transcript missense_variant 1675/5501 1675/3648 559/1215 W/G Tgg/Ggg 1 1 ZSWIM6 HGNC HGNC:29316 protein_coding YES CCDS47215.1 ENSP00000252744 Q9HCJ5 UPI0001837EA2 NM_020928.1 tolerated(0.32) benign(0.19) 6/14 hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF3 MODERATE 1 SNV 5 1 PASS GTG . . 61525961 MDC1 . GRCh38 chr6 30704981 30704981 + Missense_Mutation SNP C C A rs748601560 7316-127 BS_7FHJGTZG C C c.4202G>T p.Gly1401Val p.G1401V ENST00000376406 10/15 51 31 12 27 26 0 MDC1,missense_variant,p.Gly1401Val,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4850/7576 4202/6270 1401/2089 G/V gGc/gTc rs748601560 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GCC . . 0.007351 0.01338 0.01103 0.003108 0.01969 0.0009711 0.005031 0.01102 0.009859 30704981 MUC17 . GRCh38 chr7 101039898 101039898 + Missense_Mutation SNP G G T 7316-127 BS_7FHJGTZG G G c.8482G>T p.Gly2828Cys p.G2828C ENST00000306151 3/13 72 57 9 36 35 0 MUC17,missense_variant,p.Gly2828Cys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2828Cys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 8546/14247 8482/13482 2828/4493 G/C Ggc/Tgc COSM3703090 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.01) probably_damaging(0.979) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS TGG . . 101039898 DBH . GRCh38 chr9 133657155 133657155 + Missense_Mutation SNP G G A rs529732819 7316-127 BS_7FHJGTZG G G c.1648G>A p.Asp550Asn p.D550N ENST00000393056 11/12 66 42 23 45 44 0 DBH,missense_variant,p.Asp550Asn,ENST00000393056,NM_000787.3;DBH-AS1,non_coding_transcript_exon_variant,,ENST00000425189,; A ENSG00000123454 ENST00000393056 Transcript missense_variant 1660/2763 1648/1854 550/617 D/N Gac/Aac rs529732819 1 1 DBH HGNC HGNC:2689 protein_coding YES CCDS6977.2 ENSP00000376776 P09172 UPI0000E5D219 NM_000787.3 tolerated(0.13) benign(0.001) 11/12 PDB-ENSP_mappings:4zel.A,PDB-ENSP_mappings:4zel.B,hmmpanther:PTHR10157 0.0002 0.0008 MODERATE 1 SNV 1 1 PASS CGA . . 1.624e-05 0.000196 3.249e-05 133657155 AHNAK . GRCh38 chr11 62528626 62528626 + Missense_Mutation SNP A A T 7316-127 BS_7FHJGTZG A A c.5791T>A p.Leu1931Met p.L1931M ENST00000378024 5/5 45 32 6 37 34 0 AHNAK,missense_variant,p.Leu1931Met,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 6066/18787 5791/17673 1931/5890 L/M Ttg/Atg COSM5764175,COSM5764174 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 deleterious(0.04) probably_damaging(0.911) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 1,1 MODERATE 1 SNV 2 1,1 PASS AAG . . 62528626 RFXAP . GRCh38 chr13 36819551 36819551 + Missense_Mutation SNP T T G novel 7316-127 BS_7FHJGTZG T T c.194T>G p.Val65Gly p.V65G ENST00000255476 1/3 53 40 10 41 37 3 RFXAP,missense_variant,p.Val65Gly,ENST00000255476,;,regulatory_region_variant,,ENSR00000061326,; G ENSG00000133111 ENST00000255476 Transcript missense_variant 328/2304 194/819 65/272 V/G gTt/gGt 1 1 RFXAP HGNC HGNC:9988 protein_coding YES CCDS9359.1 ENSP00000255476 O00287 UPI0000133812 tolerated_low_confidence(0.45) benign(0) 1/3 hmmpanther:PTHR15110 MODERATE 1 SNV 1 1 PASS GTT . . 36819551 MED15P1 . GRCh38 chr14 18914582 18914582 + Splice_Region SNP C C T rs879404444 7316-127 BS_7FHJGTZG C C n.385-3G>A ENST00000620166 57 48 9 28 28 0 MED15P1,intron_variant,,ENST00000552968,;,regulatory_region_variant,,ENSR00000273490,;MED15P1,splice_region_variant,,ENST00000620166,;NF1P7,upstream_gene_variant,,ENST00000612076,; T ENSG00000257853 ENST00000620166 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs879404444 1 -1 MED15P1 HGNC HGNC:19271 transcribed_unprocessed_pseudogene YES 4/7 LOW 1 SNV PASS GCG . . 18914582 CKB . GRCh38 chr14 103521832 103521832 + Missense_Mutation SNP T T G novel 7316-127 BS_7FHJGTZG T T c.467A>C p.Lys156Thr p.K156T ENST00000348956 4/8 64 56 7 39 38 1 CKB,missense_variant,p.Lys156Thr,ENST00000348956,NM_001823.4;CKB,missense_variant,p.Lys156Thr,ENST00000553878,;CKB,missense_variant,p.Lys127Thr,ENST00000557530,;CKB,upstream_gene_variant,,ENST00000553610,;CKB,upstream_gene_variant,,ENST00000555039,;AL133367.1,downstream_gene_variant,,ENST00000568177,;CKB,3_prime_UTR_variant,,ENST00000553652,;CKB,non_coding_transcript_exon_variant,,ENST00000555770,;CKB,non_coding_transcript_exon_variant,,ENST00000554705,;CKB,non_coding_transcript_exon_variant,,ENST00000554426,;CKB,non_coding_transcript_exon_variant,,ENST00000555659,;CKB,non_coding_transcript_exon_variant,,ENST00000553994,;CKB,non_coding_transcript_exon_variant,,ENST00000557569,;CKB,non_coding_transcript_exon_variant,,ENST00000557287,;CKB,upstream_gene_variant,,ENST00000553528,;CKB,upstream_gene_variant,,ENST00000554282,;CKB,upstream_gene_variant,,ENST00000554989,;CKB,upstream_gene_variant,,ENST00000555366,;,regulatory_region_variant,,ENSR00000073571,; G ENSG00000166165 ENST00000348956 Transcript missense_variant 825/1709 467/1146 156/381 K/T aAg/aCg 1 -1 CKB HGNC HGNC:1991 protein_coding YES CCDS9981.1 ENSP00000299198 P12277 V9HWH2 UPI000012DCBA NM_001823.4 deleterious(0.04) benign(0.045) 4/8 PDB-ENSP_mappings:3b6r.A,PDB-ENSP_mappings:3b6r.B,PDB-ENSP_mappings:3drb.A,PDB-ENSP_mappings:3drb.B,PDB-ENSP_mappings:3dre.A,PDB-ENSP_mappings:3dre.B,PROSITE_profiles:PS51510,cd00716,hmmpanther:PTHR11547:SF23,hmmpanther:PTHR11547,Pfam_domain:PF00217,Gene3D:3.30.590.10,Superfamily_domains:SSF55931 MODERATE 1 SNV 1 PASS CTT . . 103521832 IGHV4-4 . GRCh38 chr14 106011947 106011947 + Missense_Mutation SNP T T G novel 7316-127 BS_7FHJGTZG T T c.328A>C p.Thr110Pro p.T110P ENST00000455737 2/2 73 60 11 31 30 0 IGHV4-4,missense_variant,p.Thr110Pro,ENST00000455737,;,regulatory_region_variant,,ENSR00000073871,;,regulatory_region_variant,,ENSR00000276359,; G ENSG00000276775 ENST00000455737 Transcript missense_variant 392/417 328/353 110/117 T/P Acg/Ccg 1 -1 IGHV4-4 HGNC HGNC:5652 IG_V_gene YES ENSP00000410711 A0A075B6R2 UPI0004620DE4 deleterious(0.01) probably_damaging(0.976) 2/2 MODERATE 1 SNV PASS GTG . . 106011947 CASKIN2 . GRCh38 chr17 75502147 75502147 + Missense_Mutation SNP A A C novel 7316-127 BS_7FHJGTZG A A c.2927T>G p.Val976Gly p.V976G ENST00000321617 18/20 72 56 12 48 46 1 CASKIN2,missense_variant,p.Val976Gly,ENST00000321617,NM_020753.4;CASKIN2,missense_variant,p.Val894Gly,ENST00000433559,NM_001142643.2;TMEM94,downstream_gene_variant,,ENST00000314256,NM_014738.5,NM_001321149.1;TMEM94,downstream_gene_variant,,ENST00000375248,NM_001321148.1;TMEM94,downstream_gene_variant,,ENST00000577245,;TMEM94,downstream_gene_variant,,ENST00000577247,;TMEM94,downstream_gene_variant,,ENST00000579208,;CASKIN2,downstream_gene_variant,,ENST00000581870,;TMEM94,downstream_gene_variant,,ENST00000584694,;MIR6785,downstream_gene_variant,,ENST00000618984,;TMEM94,downstream_gene_variant,,ENST00000577194,;TMEM94,downstream_gene_variant,,ENST00000579898,;CASKIN2,downstream_gene_variant,,ENST00000580021,;TMEM94,downstream_gene_variant,,ENST00000581085,;TMEM94,downstream_gene_variant,,ENST00000581453,;CASKIN2,downstream_gene_variant,,ENST00000583246,;CASKIN2,downstream_gene_variant,,ENST00000583258,;TMEM94,downstream_gene_variant,,ENST00000585105,; C ENSG00000177303 ENST00000321617 Transcript missense_variant 3514/5015 2927/3609 976/1202 V/G gTg/gGg 1 -1 CASKIN2 HGNC HGNC:18200 protein_coding YES CCDS11723.1 ENSP00000325355 Q8WXE0 UPI0000140BCB NM_020753.4 tolerated(0.1) benign(0) 18/20 hmmpanther:PTHR24177,hmmpanther:PTHR24177:SF37,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 75502147 CD209 . GRCh38 chr19 7745562 7745562 + Missense_Mutation SNP T T A rs1291625799 7316-127 BS_7FHJGTZG T T c.704A>T p.Gln235Leu p.Q235L ENST00000315599 4/7 62 50 10 45 43 0 CD209,missense_variant,p.Gln235Leu,ENST00000315599,NM_021155.3;CD209,missense_variant,p.Gln211Leu,ENST00000601951,;CD209,missense_variant,p.Gln235Leu,ENST00000354397,NM_001144897.1;CD209,missense_variant,p.Gln211Leu,ENST00000315591,NM_001144896.1;CD209,missense_variant,p.Gln191Leu,ENST00000204801,NM_001144894.1;CD209,missense_variant,p.Gln211Leu,ENST00000601256,;CD209,intron_variant,,ENST00000394161,;CD209,intron_variant,,ENST00000394173,NM_001144899.1;CD209,intron_variant,,ENST00000593660,;CD209,intron_variant,,ENST00000593821,NM_001144893.1;CD209,intron_variant,,ENST00000602261,NM_001144895.1; A ENSG00000090659 ENST00000315599 Transcript missense_variant 727/4283 704/1215 235/404 Q/L cAg/cTg rs1291625799,COSM6336085,COSM1293906,COSM1293905 1 -1 CD209 HGNC HGNC:1641 protein_coding YES CCDS12186.1 ENSP00000315477 Q9NNX6 UPI000003422C NM_021155.3 tolerated(0.2) benign(0) 4/7 Gene3D:3.10.100.10,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF197,Superfamily_domains:SSF56436 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 1 PASS CTG . . 7745562 MUC16 . GRCh38 chr19 8937551 8937551 + Missense_Mutation SNP A A G rs766546482 7316-127 BS_7FHJGTZG A A c.33404T>C p.Val11135Ala p.V11135A ENST00000397910 5/84 72 63 7 39 39 0 MUC16,missense_variant,p.Val11135Ala,ENST00000397910,NM_024690.2; G ENSG00000181143 ENST00000397910 Transcript missense_variant 33608/43816 33404/43524 11135/14507 V/A gTa/gCa rs766546482,COSM4703780,COSM4703779 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0) 5/84 hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS TAC . . 4.07e-06 8.967e-06 8937551 ZNF682 . GRCh38 chr19 20006224 20006224 + Missense_Mutation SNP G G T 7316-127 BS_7FHJGTZG G G c.1278C>A p.Asn426Lys p.N426K ENST00000397165 4/4 52 44 8 44 43 0 ZNF682,missense_variant,p.Asn426Lys,ENST00000397165,NM_033196.2;ZNF682,missense_variant,p.Asn394Lys,ENST00000397162,NM_001077349.1;ZNF682,missense_variant,p.Asn394Lys,ENST00000358523,;ZNF682,missense_variant,p.Asn350Lys,ENST00000595736,;ZNF682,missense_variant,p.Asn432Lys,ENST00000597972,;ZNF682,intron_variant,,ENST00000594127,;ZNF682,intron_variant,,ENST00000596019,;ZNF682,intron_variant,,ENST00000602079,;ZNF682,downstream_gene_variant,,ENST00000593468,;ZNF682,downstream_gene_variant,,ENST00000601100,;ZNF682,non_coding_transcript_exon_variant,,ENST00000601365,;ZNF682,downstream_gene_variant,,ENST00000595534,; T ENSG00000197124 ENST00000397165 Transcript missense_variant 1439/3245 1278/1497 426/498 N/K aaC/aaA COSM3102001 1 -1 ZNF682 HGNC HGNC:28857 protein_coding YES CCDS42533.1 ENSP00000380351 O95780 UPI000007275A NM_033196.2 tolerated(1) benign(0.001) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS AGT . . 20006224 ZNF91 . GRCh38 chr19 23361479 23361479 + Missense_Mutation SNP C C G rs1317953106 7316-127 BS_7FHJGTZG C C c.1500G>C p.Arg500Ser p.R500S ENST00000300619 4/4 47 38 8 48 46 0 ZNF91,missense_variant,p.Arg500Ser,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Arg468Ser,ENST00000397082,NM_001300951.1;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000593341,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,; G ENSG00000167232 ENST00000300619 Transcript missense_variant 1706/5489 1500/3576 500/1191 R/S agG/agC rs1317953106 1 -1 ZNF91 HGNC HGNC:13166 protein_coding YES CCDS42541.1 ENSP00000300619 Q05481 UPI00002038F9 NM_003430.3 tolerated(1) benign(0.056) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF42,hmmpanther:PTHR24376:SF42,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GCC . . 8.383e-06 6.663e-05 3.147e-05 23361479 HKR1 . GRCh38 chr19 37362773 37362773 + Missense_Mutation SNP G G T rs1440659498 7316-127 BS_7FHJGTZG G G c.978G>T p.Glu326Asp p.E326D ENST00000324411 6/6 57 51 5 47 46 0 HKR1,missense_variant,p.Glu53Asp,ENST00000591471,;HKR1,missense_variant,p.Glu326Asp,ENST00000324411,NM_181786.2;HKR1,missense_variant,p.Glu53Asp,ENST00000544914,;HKR1,missense_variant,p.Glu307Asp,ENST00000392153,NM_001329762.1,NM_001329761.1,NM_001329764.1,NM_001353803.1;HKR1,missense_variant,p.Glu265Asp,ENST00000541583,NM_001329772.1,NM_001329777.1;HKR1,missense_variant,p.Glu308Asp,ENST00000589392,;HKR1,intron_variant,,ENST00000591134,;HKR1,downstream_gene_variant,,ENST00000585623,;HKR1,downstream_gene_variant,,ENST00000586897,;HKR1,downstream_gene_variant,,ENST00000590582,;HKR1,downstream_gene_variant,,ENST00000591259,;HKR1,downstream_gene_variant,,ENST00000591391,;HKR1,downstream_gene_variant,,ENST00000591417,;HKR1,downstream_gene_variant,,ENST00000592168,;HKR1,downstream_gene_variant,,ENST00000592768,;HKR1,non_coding_transcript_exon_variant,,ENST00000588820,;HKR1,downstream_gene_variant,,ENST00000590570,; T ENSG00000181666 ENST00000324411 Transcript missense_variant 1247/2929 978/1980 326/659 E/D gaG/gaT rs1440659498 1 1 HKR1 HGNC HGNC:4928 protein_coding YES CCDS12502.1 ENSP00000315505 P10072 UPI00001AE470 NM_181786.2 deleterious(0.01) benign(0.199) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF129,Gene3D:2.40.155.10,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGA . . 37362773 ZNF808 . GRCh38 chr19 52554337 52554337 + Missense_Mutation SNP G G C rs1291861814 7316-127 BS_7FHJGTZG G G c.1421G>C p.Arg474Thr p.R474T ENST00000359798 5/5 70 62 6 46 46 0 ZNF808,missense_variant,p.Arg474Thr,ENST00000359798,NM_001321424.1,NM_001039886.3,NM_001321425.1;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF701,upstream_gene_variant,,ENST00000611267,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.Arg405Thr,ENST00000487863,; C ENSG00000198482 ENST00000359798 Transcript missense_variant 1601/3600 1421/2712 474/903 R/T aGa/aCa rs1291861814,COSM6217498 1 1 ZNF808 HGNC HGNC:33230 protein_coding YES CCDS46167.1 ENSP00000352846 Q8N4W9 UPI000041AA80 NM_001321424.1,NM_001039886.3,NM_001321425.1 tolerated(0.06) benign(0.021) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR43964,hmmpanther:PTHR43964,hmmpanther:PTHR43964,hmmpanther:PTHR43964:SF1,hmmpanther:PTHR43964:SF1,hmmpanther:PTHR43964:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 5 0,1 PASS AGA . . 52554337 WBP2NL . GRCh38 chr22 42026923 42026923 + Nonsense_Mutation SNP C C A 7316-127 BS_7FHJGTZG C C c.672C>A p.Tyr224Ter p.Y224* ENST00000328823 6/6 49 37 6 30 28 0 WBP2NL,stop_gained,p.Tyr224Ter,ENST00000328823,NM_152613.2;WBP2NL,stop_gained,p.Tyr150Ter,ENST00000543212,;WBP2NL,non_coding_transcript_exon_variant,,ENST00000475341,;WBP2NL,upstream_gene_variant,,ENST00000487176,;WBP2NL,stop_gained,p.Tyr224Ter,ENST00000329620,;WBP2NL,stop_gained,p.Tyr188Ter,ENST00000412113,;WBP2NL,stop_gained,p.Tyr224Ter,ENST00000436265,;WBP2NL,downstream_gene_variant,,ENST00000445185,;WBP2NL,upstream_gene_variant,,ENST00000470812,; A ENSG00000183066 ENST00000328823 Transcript stop_gained 703/2255 672/930 224/309 Y/* taC/taA COSM1034725 1 1 WBP2NL HGNC HGNC:28389 protein_coding YES CCDS14029.1 ENSP00000332983 Q6ICG8 UPI00001AF89A NM_152613.2 6/6 hmmpanther:PTHR31606,hmmpanther:PTHR31606:SF2,Low_complexity_(Seg):seg 1 HIGH 1 SNV 1 1 PASS ACG . . 42026923 GPC3 . GRCh38 chrX 133704277 133704278 + Splice_Region INS - - A rs773361389 7316-127 BS_7FHJGTZG - - c.1033-5dup ENST00000394299 61 40 12 42 32 0 GPC3,splice_region_variant,,ENST00000394299,NM_001164617.1;GPC3,intron_variant,,ENST00000370818,NM_004484.3,NM_001164618.1;GPC3,intron_variant,,ENST00000406757,;GPC3,intron_variant,,ENST00000631057,NM_001164619.1; A ENSG00000147257 ENST00000394299 Transcript splice_region_variant,intron_variant rs773361389 1 -1 GPC3 HGNC HGNC:4451 protein_coding YES CCDS55496.1 ENSP00000377836 P51654 UPI00015E044A NM_001164617.1 3/8 LOW 1 insertion 1 1 PASS TGA . . 0.1404 0.2755 0.1625 0.1331 0.1656 0.08197 0.1085 0.1591 0.1238 133704277 HPRT1 . GRCh38 chrX 134460312 134460312 + Translation_Start_Site SNP A A C 7316-127 BS_7FHJGTZG A A c.1A>C p.Met1? p.M1? ENST00000298556 1/9 70 59 11 44 43 0 HPRT1,start_lost,p.Met1?,ENST00000298556,NM_000194.2;HPRT1,upstream_gene_variant,,ENST00000462974,;,regulatory_region_variant,,ENSR00000248923,; C ENSG00000165704 ENST00000298556 Transcript start_lost 160/1407 1/657 1/218 M/L Atg/Ctg CM125264,CD137579 1 1 HPRT1 HGNC HGNC:5157 protein_coding YES CCDS14641.1 ENSP00000298556 P00492 A0A140VJL3 UPI00000004D7 NM_000194.2 tolerated(0.21) benign(0) 1/9 PDB-ENSP_mappings:5brn.A,PDB-ENSP_mappings:5brn.B,PDB-ENSP_mappings:5brn.C,PDB-ENSP_mappings:5brn.D,PDB-ENSP_mappings:5bsk.A,PDB-ENSP_mappings:5bsk.B,PDB-ENSP_mappings:5bsk.C,PDB-ENSP_mappings:5bsk.D,PDB-ENSP_mappings:5hia.A,PDB-ENSP_mappings:5hia.B,PDB-ENSP_mappings:5hia.C,PDB-ENSP_mappings:5hia.D,PDB-ENSP_mappings:6bnj.A,PDB-ENSP_mappings:6bnj.B,PDB-ENSP_mappings:6bnj.C,PDB-ENSP_mappings:6bnj.D,hmmpanther:PTHR43340:SF6,hmmpanther:PTHR43340,Gene3D:3.40.50.2020 HIGH 1 SNV 1 1,1 1 PASS TAT . . 134460312 RPS6KA1 . GRCh38 chr1 26558848 26558848 + Missense_Mutation SNP T T G novel 7316-875 BS_FQ58DAZV T T c.1153T>G p.Phe385Val p.F385V ENST00000531382 13/21 86 71 12 41 39 0 RPS6KA1,missense_variant,p.Phe376Val,ENST00000374168,NM_002953.3;RPS6KA1,missense_variant,p.Phe365Val,ENST00000374166,;RPS6KA1,missense_variant,p.Phe360Val,ENST00000530003,NM_001330441.1;RPS6KA1,missense_variant,p.Phe284Val,ENST00000526792,;RPS6KA1,missense_variant,p.Phe385Val,ENST00000531382,NM_001006665.1;RPS6KA1,missense_variant,p.Phe34Val,ENST00000403732,;RPS6KA1,downstream_gene_variant,,ENST00000529454,;MIR1976,downstream_gene_variant,,ENST00000459548,;RPS6KA1,downstream_gene_variant,,ENST00000488985,;RPS6KA1,3_prime_UTR_variant,,ENST00000374163,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000531113,;RPS6KA1,downstream_gene_variant,,ENST00000474934,;RPS6KA1,downstream_gene_variant,,ENST00000527264,; G ENSG00000117676 ENST00000531382 Transcript missense_variant 1202/2359 1153/2235 385/744 F/V Ttc/Gtc 1 1 RPS6KA1 HGNC HGNC:10430 protein_coding YES CCDS30649.1 ENSP00000435412 Q15418 UPI000046D37A NM_001006665.1 deleterious(0) probably_damaging(0.969) 13/21 Pfam_domain:PF00433,PIRSF_domain:PIRSF000606,PROSITE_profiles:PS51285,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF43,SMART_domains:SM00133,Superfamily_domains:SSF56112,cd05582 MODERATE 1 SNV 2 PASS GTT . . 26558848 TCHH . GRCh38 chr1 152109647 152109648 + In_Frame_Ins INS - - CTC rs1433438769 7316-875 BS_FQ58DAZV - - c.3569_3570insGAG p.Arg1192dup p.R1192dup ENST00000614923 3/3 76 54 11 42 40 0 TCHH,inframe_insertion,p.Arg1192dup,ENST00000614923,NM_007113.3;TCHH,inframe_insertion,p.Arg1192dup,ENST00000368804,; CTC ENSG00000159450 ENST00000614923 Transcript inframe_insertion 3664-3665/6995 3569-3570/5832 1190/1943 K/KR aaa/aaGAGa rs1433438769,TMP_ESP_1_152082124_152082123 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 3/3 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,hmmpanther:PTHR34855 0.003597 0.0009975 MODERATE 1 insertion 5 1 PASS TTT . . 4.064e-06 8.954e-06 152109647 TCHH . GRCh38 chr1 152110024 152110024 + Missense_Mutation SNP C C T rs1273600317 7316-875 BS_FQ58DAZV C C c.3193G>A p.Gly1065Arg p.G1065R ENST00000614923 3/3 43 27 6 36 34 1 TCHH,missense_variant,p.Gly1065Arg,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Gly1065Arg,ENST00000368804,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 3288/6995 3193/5832 1065/1943 G/R Gga/Aga rs1273600317,COSM2184241 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.88) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1 MODERATE 1 SNV 5 0,1 1 PASS CCC . . 0.0002897 9.176e-05 0.0006913 0.001133 0.0001557 0.0004815 0.0004836 152110024 TCHH . GRCh38 chr1 152111520 152111520 + Missense_Mutation SNP C C A novel 7316-875 BS_FQ58DAZV C C c.1697G>T p.Arg566Leu p.R566L ENST00000614923 3/3 34 21 7 34 30 0 TCHH,missense_variant,p.Arg566Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg566Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 1792/6995 1697/5832 566/1943 R/L cGg/cTg 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 benign(0) 3/3 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS CCG . . 152111520 FLG2 . GRCh38 chr1 152350986 152350986 + Missense_Mutation SNP C C A rs1385560585 7316-875 BS_FQ58DAZV C C c.6800G>T p.Gly2267Val p.G2267V ENST00000388718 3/3 73 63 9 46 45 0 FLG2,missense_variant,p.Gly2267Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 6873/9124 6800/7176 2267/2391 G/V gGc/gTc rs1385560585,COSM1491717 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.35) benign(0.278) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCC . . 152350986 FLG2 . GRCh38 chr1 152351082 152351082 + Missense_Mutation SNP T T G rs775731398 7316-875 BS_FQ58DAZV T T c.6704A>C p.Tyr2235Ser p.Y2235S ENST00000388718 3/3 63 47 14 51 51 0 FLG2,missense_variant,p.Tyr2235Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 6777/9124 6704/7176 2235/2391 Y/S tAt/tCt rs775731398 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0.257) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS ATA . . 1.633e-05 0.0001207 152351082 FLG2 . GRCh38 chr1 152351706 152351706 + Missense_Mutation SNP G G C rs201561111 7316-875 BS_FQ58DAZV G G c.6080C>G p.Ala2027Gly p.A2027G ENST00000388718 3/3 68 52 14 43 41 1 FLG2,missense_variant,p.Ala2027Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 6153/9124 6080/7176 2027/2391 A/G gCa/gGa rs201561111,COSM5950694 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0.0016 0.0045 0.002 0,1 MODERATE SNV 5 0,1 1 PASS TGC . . 2.477e-05 0.0001852 4.157e-05 2.069e-05 152351706 FLG2 . GRCh38 chr1 152353310 152353310 + Missense_Mutation SNP A A C rs749699546 7316-875 BS_FQ58DAZV A A c.4476T>G p.Ser1492Arg p.S1492R ENST00000388718 3/3 70 57 13 32 30 1 FLG2,missense_variant,p.Ser1492Arg,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 4549/9124 4476/7176 1492/2391 S/R agT/agG rs749699546,COSM5956621 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.48) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS TAC . . 4.111e-06 9.003e-06 152353310 C2orf16 . GRCh38 chr2 27581776 27581776 + Missense_Mutation SNP A A T 7316-875 BS_FQ58DAZV A A c.5204A>T p.His1735Leu p.H1735L ENST00000408964 1/1 79 56 8 48 45 0 C2orf16,missense_variant,p.His5139Leu,ENST00000447166,;C2orf16,missense_variant,p.His1735Leu,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; T ENSG00000221843 ENST00000408964 Transcript missense_variant 5255/6200 5204/5955 1735/1984 H/L cAc/cTc COSM4901863,COSM4901862 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(0.62) benign(0.031) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg 1,1 MODERATE SNV 1,1 PASS CAC . . 27581776 C2orf16 . GRCh38 chr2 27581935 27581935 + Missense_Mutation SNP A A T 7316-875 BS_FQ58DAZV A A c.5363A>T p.Lys1788Ile p.K1788I ENST00000408964 1/1 64 38 10 46 40 0 C2orf16,missense_variant,p.Lys5192Ile,ENST00000447166,;C2orf16,missense_variant,p.Lys1788Ile,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; T ENSG00000221843 ENST00000408964 Transcript missense_variant 5414/6200 5363/5955 1788/1984 K/I aAa/aTa COSM5950687,COSM5950686 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 deleterious(0.02) benign(0.341) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg 1,1 MODERATE SNV 1,1 PASS AAA . . 27581935 PRR23A . GRCh38 chr3 139005550 139005550 + Missense_Mutation SNP A A C 7316-875 BS_FQ58DAZV A A c.719T>G p.Val240Gly p.V240G ENST00000383163 1/1 61 42 15 29 28 1 PRR23A,missense_variant,p.Val240Gly,ENST00000383163,NM_001134659.1;MRPS22,upstream_gene_variant,,ENST00000495075,;,regulatory_region_variant,,ENSR00000306517,; C ENSG00000206260 ENST00000383163 Transcript missense_variant 719/801 719/801 240/266 V/G gTg/gGg COSM4591927 1 -1 PRR23A HGNC HGNC:37172 protein_coding YES CCDS46923.1 ENSP00000372649 A6NEV1 UPI00003671C1 NM_001134659.1 tolerated(0.05) benign(0.154) 1/1 Pfam_domain:PF10630,hmmpanther:PTHR31813,hmmpanther:PTHR31813:SF15,mobidb-lite 1 MODERATE SNV 1 PASS CAC . . 139005550 HES1 . GRCh38 chr3 194137997 194137997 + Missense_Mutation SNP T T G rs753590101 7316-875 BS_FQ58DAZV T T c.607T>G p.Cys203Gly p.C203G ENST00000232424 4/4 82 68 9 44 43 1 HES1,missense_variant,p.Cys203Gly,ENST00000232424,NM_005524.3;HES1,downstream_gene_variant,,ENST00000476918,;,regulatory_region_variant,,ENSR00000308156,;,TF_binding_site_variant,,MA0139.1,; G ENSG00000114315 ENST00000232424 Transcript missense_variant 843/1578 607/843 203/280 C/G Tgc/Ggc rs753590101 1 1 HES1 HGNC HGNC:5192 protein_coding YES CCDS3305.1 ENSP00000232424 Q14469 UPI0000037B01 NM_005524.3 deleterious(0) benign(0.003) 4/4 hmmpanther:PTHR10985:SF125,hmmpanther:PTHR10985 MODERATE 1 SNV 1 PASS CTG . . 194137997 MDC1 . GRCh38 chr6 30705336 30705336 + Missense_Mutation SNP G G T rs79216909 7316-875 BS_FQ58DAZV G G c.3847C>A p.Pro1283Thr p.P1283T ENST00000376406 10/15 67 55 11 49 48 0 MDC1,missense_variant,p.Pro1283Thr,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 4495/7576 3847/6270 1283/2089 P/T Cca/Aca rs79216909,COSM1235523,COSM1235522 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(0.06) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 0.0457 0.0295 0.0231 0.0635 0.0239 0.0879 0.02678 0.02047 0,1,1 MODERATE SNV 5 0,1,1 PASS GGT . . 0.01363 0.004301 0.007925 0.02249 0.04023 0.005426 0.007551 0.01843 0.03559 30705336 MUCL3 . GRCh38 chr6 30949757 30949757 + Missense_Mutation SNP C C A novel 7316-875 BS_FQ58DAZV C C c.1293C>A p.Asn431Lys p.N431K ENST00000462446 2/3 38 28 6 52 51 0 MUCL3,missense_variant,p.Asn498Lys,ENST00000636043,;MUCL3,missense_variant,p.Asn431Lys,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 1321/5314 1293/4182 431/1393 N/K aaC/aaA 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.6) benign(0.075) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS ACG . . 30949757 HLA-C . GRCh38 chr6 31269347 31269347 + Missense_Mutation SNP T T C rs1130838 7316-875 BS_FQ58DAZV T T c.1087A>G p.Thr363Ala p.T363A ENST00000376228 7/8 33 23 9 20 19 0 HLA-C,missense_variant,p.Thr369Ala,ENST00000383329,;HLA-C,missense_variant,p.Thr363Ala,ENST00000376228,NM_002117.5;HLA-C,missense_variant,p.Thr242Ala,ENST00000640219,;HLA-C,downstream_gene_variant,,ENST00000415537,;HLA-B,downstream_gene_variant,,ENST00000640615,;HLA-C,3_prime_UTR_variant,,ENST00000376237,;HLA-C,non_coding_transcript_exon_variant,,ENST00000487245,;HLA-C,non_coding_transcript_exon_variant,,ENST00000470363,;HLA-C,non_coding_transcript_exon_variant,,ENST00000466892,;HLA-C,downstream_gene_variant,,ENST00000484378,;HLA-C,downstream_gene_variant,,ENST00000495835,; C ENSG00000204525 ENST00000376228 Transcript missense_variant 1102/1536 1087/1101 363/366 T/A Act/Gct rs1130838,COSM4160663,COSM4160662,COSM4160661 1 -1 HLA-C HGNC HGNC:4933 protein_coding YES CCDS34393.1 ENSP00000365402 P10321 Q6R739 UPI000008AEBB NM_002117.5 tolerated_low_confidence(1) benign(0.001) 7/8 Pfam_domain:PF06623 0.7853 0.8139 0.8184 0.8135 0.7266 0.7546 0.7934 0.6873 0,1,1,1 22201026 MODERATE 1 SNV 0,1,1,1 1 PASS GTG . . 0.7308 0.8103 0.7551 0.8715 0.8028 0.7132 0.6844 0.7498 0.757 31269347 VGLL2 . GRCh38 chr6 117270812 117270812 + Missense_Mutation SNP T T G novel 7316-875 BS_FQ58DAZV T T c.661T>G p.Tyr221Asp p.Y221D ENST00000326274 3/4 61 46 12 36 35 1 VGLL2,missense_variant,p.Tyr221Asp,ENST00000326274,NM_182645.3;VGLL2,intron_variant,,ENST00000352536,NM_153453.1;,regulatory_region_variant,,ENSR00000201716,; G ENSG00000170162 ENST00000326274 Transcript missense_variant 851/2212 661/954 221/317 Y/D Tac/Gac 1 1 VGLL2 HGNC HGNC:20232 protein_coding YES CCDS5115.1 ENSP00000320957 Q8N8G2 UPI000006FF57 NM_182645.3 deleterious(0.03) possibly_damaging(0.77) 3/4 hmmpanther:PTHR15950,hmmpanther:PTHR15950:SF17,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTA . . 117270812 ZNF716 . GRCh38 chr7 57469678 57469678 + Missense_Mutation SNP A A T 7316-875 BS_FQ58DAZV A A c.1217A>T p.Lys406Ile p.K406I ENST00000420713 4/4 73 61 5 43 40 0 ZNF716,missense_variant,p.Lys406Ile,ENST00000420713,NM_001159279.1; T ENSG00000182111 ENST00000420713 Transcript missense_variant 1329/5197 1217/1488 406/495 K/I aAa/aTa COSM4438862,COSM4438861 1 1 ZNF716 HGNC HGNC:32458 protein_coding YES CCDS55112.1 ENSP00000394248 A6NP11 UPI00004192FD NM_001159279.1 deleterious(0) possibly_damaging(0.87) 4/4 Gene3D:2.20.28.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 4 1,1 PASS AAA . . 57469678 MUC3A . GRCh38 chr7 100966411 100966411 + Missense_Mutation SNP T T G novel 7316-875 BS_FQ58DAZV T T c.9637T>G p.Phe3213Val p.F3213V ENST00000379458 9/12 167 155 10 79 78 0 MUC3A,missense_variant,p.Phe3213Val,ENST00000379458,NM_005960.1;MUC3A,intron_variant,,ENST00000483366,;MUC12,upstream_gene_variant,,ENST00000379442,;MUC12,upstream_gene_variant,,ENST00000536621,NM_001164462.1;AC254629.1,non_coding_transcript_exon_variant,,ENST00000618276,;AC254629.1,upstream_gene_variant,,ENST00000610769,;MUC3A,3_prime_UTR_variant,,ENST00000414964,;MUC3A,non_coding_transcript_exon_variant,,ENST00000614399,;,regulatory_region_variant,,ENSR00000215881,; G ENSG00000169894 ENST00000379458 Transcript missense_variant 9707/11226 9637/9972 3213/3323 F/V Ttc/Gtc 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 deleterious_low_confidence(0.04) benign(0.009) 9/12 Gene3D:2.10.25.10,hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,SMART_domains:SM00181 MODERATE SNV 5 PASS GTT . . 100966411 MUC17 . GRCh38 chr7 101033185 101033185 + Missense_Mutation SNP C C A 7316-875 BS_FQ58DAZV C C c.1769C>A p.Thr590Asn p.T590N ENST00000306151 3/13 90 78 5 59 58 0 MUC17,missense_variant,p.Thr590Asn,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr590Asn,ENST00000379439,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 1833/14247 1769/13482 590/4493 T/N aCt/aAt COSM6717691 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.03) benign(0.007) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS ACT . . 101033185 MUC17 . GRCh38 chr7 101039898 101039898 + Missense_Mutation SNP G G T 7316-875 BS_FQ58DAZV G G c.8482G>T p.Gly2828Cys p.G2828C ENST00000306151 3/13 72 60 6 47 44 0 MUC17,missense_variant,p.Gly2828Cys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2828Cys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 8546/14247 8482/13482 2828/4493 G/C Ggc/Tgc COSM3703090 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.01) probably_damaging(0.979) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS TGG . . 101039898 MUC17 . GRCh38 chr7 101040133 101040133 + Missense_Mutation SNP G G C rs1486010098 7316-875 BS_FQ58DAZV G G c.8717G>C p.Gly2906Ala p.G2906A ENST00000306151 3/13 60 49 9 46 44 1 MUC17,missense_variant,p.Gly2906Ala,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2906Ala,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 8781/14247 8717/13482 2906/4493 G/A gGc/gCc rs1486010098,COSM4703948,COSM3082566 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.024) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGC . . 4.724e-06 1.008e-05 101040133 ERICH1 . GRCh38 chr8 673668 673668 + Missense_Mutation SNP A A T novel 7316-875 BS_FQ58DAZV A A c.684T>A p.Asp228Glu p.D228E ENST00000262109 4/6 63 47 9 35 33 0 ERICH1,missense_variant,p.Asp228Glu,ENST00000262109,NM_207332.2,NM_001303100.1;ERICH1,missense_variant,p.Asp134Glu,ENST00000522706,;ERICH1,upstream_gene_variant,,ENST00000522893,;ERICH1,downstream_gene_variant,,ENST00000518277,;ERICH1,downstream_gene_variant,,ENST00000518313,;ERICH1,upstream_gene_variant,,ENST00000518895,;ERICH1,downstream_gene_variant,,ENST00000524138,;ERICH1,upstream_gene_variant,,ENST00000523053,;ERICH1,upstream_gene_variant,,ENST00000523415,;,regulatory_region_variant,,ENSR00000220411,; T ENSG00000104714 ENST00000262109 Transcript missense_variant 762/1813 684/1332 228/443 D/E gaT/gaA 1 -1 ERICH1 HGNC HGNC:27234 protein_coding YES CCDS5955.1 ENSP00000262109 Q86X53 UPI000000DB6B NM_207332.2,NM_001303100.1 tolerated(0.21) possibly_damaging(0.556) 4/6 mobidb-lite,hmmpanther:PTHR22444 MODERATE 1 SNV 1 PASS TAT . . 673668 MUC5AC . GRCh38 chr11 1187689 1187689 + Missense_Mutation SNP C C T rs748806016 7316-875 BS_FQ58DAZV C C c.9544C>T p.Pro3182Ser p.P3182S ENST00000621226 31/49 82 68 9 39 36 0 MUC5AC,missense_variant,p.Pro3182Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; T ENSG00000215182 ENST00000621226 Transcript missense_variant 9591/17448 9544/16965 3182/5654 P/S Cct/Tct rs748806016 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.84) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CCC . . 1187689 QSER1 . GRCh38 chr11 32893336 32893336 + Splice_Site SNP T T G novel 7316-875 BS_FQ58DAZV T T c.-179+2T>G ENST00000399302 53 45 7 38 37 0 QSER1,splice_donor_variant,,ENST00000399302,NM_001076786.2;QSER1,splice_donor_variant,,ENST00000527250,;,regulatory_region_variant,,ENSR00000038481,; G ENSG00000060749 ENST00000399302 Transcript splice_donor_variant 1 1 QSER1 HGNC HGNC:26154 protein_coding YES CCDS41631.1 ENSP00000382241 Q2KHR3 UPI0000E467AF NM_001076786.2 1/12 HIGH 1 SNV 1 PASS GTA . . 32893336 CST6 . GRCh38 chr11 66012225 66012225 + Missense_Mutation SNP A A C novel 7316-875 BS_FQ58DAZV A A c.181A>C p.Met61Leu p.M61L ENST00000312134 1/3 84 73 9 44 43 0 CST6,missense_variant,p.Met61Leu,ENST00000312134,NM_001323.3;CATSPER1,downstream_gene_variant,,ENST00000312106,NM_053054.3;CATSPER1,downstream_gene_variant,,ENST00000529244,;,regulatory_region_variant,,ENSR00000040921,; C ENSG00000175315 ENST00000312134 Transcript missense_variant 385/759 181/450 61/149 M/L Atg/Ctg 1 1 CST6 HGNC HGNC:2478 protein_coding YES CCDS8126.1 ENSP00000311313 Q15828 UPI00000015F5 NM_001323.3 tolerated(0.29) benign(0.243) 1/3 Gene3D:3.10.450.10,PDB-ENSP_mappings:4n6l.A,PDB-ENSP_mappings:4n6m.A,PDB-ENSP_mappings:4n6m.B,PDB-ENSP_mappings:4n6n.B,PDB-ENSP_mappings:4n6o.B,Pfam_domain:PF00031,hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF60,SMART_domains:SM00043,Superfamily_domains:SSF54403,cd00042 MODERATE 1 SNV 1 PASS CAT . . 66012225 FAM186A . GRCh38 chr12 50352470 50352470 + Missense_Mutation SNP C C A 7316-875 BS_FQ58DAZV C C c.4362G>T p.Glu1454Asp p.E1454D ENST00000327337 4/8 49 29 7 36 33 0 FAM186A,missense_variant,p.Glu1454Asp,ENST00000543111,;FAM186A,missense_variant,p.Glu1454Asp,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; A ENSG00000185958 ENST00000327337 Transcript missense_variant 4362/7127 4362/7056 1454/2351 E/D gaG/gaT COSM6243277 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.27) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590 1 MODERATE 1 SNV 5 1 PASS GCT . . 50352470 FAM186A . GRCh38 chr12 50353288 50353288 + Missense_Mutation SNP G G T rs1336929421 7316-875 BS_FQ58DAZV G G c.3544C>A p.Pro1182Thr p.P1182T ENST00000327337 4/8 40 25 11 52 49 1 FAM186A,missense_variant,p.Pro1182Thr,ENST00000543111,;FAM186A,missense_variant,p.Pro1182Thr,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; T ENSG00000185958 ENST00000327337 Transcript missense_variant 3544/7127 3544/7056 1182/2351 P/T Cct/Act rs1336929421,COSM940343 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0.047) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 8.101e-06 6.425e-05 50353288 ZIC5 . GRCh38 chr13 99971345 99971345 + Missense_Mutation SNP A A C novel 7316-875 BS_FQ58DAZV A A c.331T>G p.Phe111Val p.F111V ENST00000267294 1/2 75 60 12 28 27 1 ZIC5,missense_variant,p.Phe111Val,ENST00000267294,NM_033132.3;,regulatory_region_variant,,ENSR00000065144,; C ENSG00000139800 ENST00000267294 Transcript missense_variant 565/4639 331/1992 111/663 F/V Ttc/Gtc 1 -1 ZIC5 HGNC HGNC:20322 protein_coding YES CCDS9494.2 ENSP00000267294 Q96T25 UPI0000458928 NM_033132.3 deleterious_low_confidence(0.03) benign(0) 1/2 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 99971345 IRF2BPL . GRCh38 chr14 77025681 77025681 + Missense_Mutation SNP A A C novel 7316-875 BS_FQ58DAZV A A c.2112T>G p.Asp704Glu p.D704E ENST00000238647 1/1 80 70 10 29 29 0 IRF2BPL,missense_variant,p.Asp704Glu,ENST00000238647,NM_024496.3;AC007686.3,upstream_gene_variant,,ENST00000619017,;,regulatory_region_variant,,ENSR00000071100,; C ENSG00000119669 ENST00000238647 Transcript missense_variant 3019/4157 2112/2391 704/796 D/E gaT/gaG 1 -1 IRF2BPL HGNC HGNC:14282 protein_coding YES CCDS9854.1 ENSP00000238647 Q9H1B7 UPI00000738BA NM_024496.3 tolerated(0.06) probably_damaging(0.978) 1/1 Gene3D:3.30.40.10,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF14 MODERATE 1 SNV PASS AAT . . 77025681 AHNAK2 . GRCh38 chr14 104948388 104948388 + Missense_Mutation SNP G G T novel 7316-875 BS_FQ58DAZV G G c.7063C>A p.Pro2355Thr p.P2355T ENST00000333244 7/7 74 65 5 39 39 0 AHNAK2,missense_variant,p.Pro2355Thr,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; T ENSG00000185567 ENST00000333244 Transcript missense_variant 7183/18254 7063/17388 2355/5795 P/T Ccc/Acc 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 deleterious(0.01) probably_damaging(0.997) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS GGG . . 104948388 AHNAK2 . GRCh38 chr14 104953364 104953364 + Missense_Mutation SNP G G T rs565125904 7316-875 BS_FQ58DAZV G G c.2087C>A p.Ala696Asp p.A696D ENST00000333244 7/7 84 75 8 26 26 0 AHNAK2,missense_variant,p.Ala696Asp,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; T ENSG00000185567 ENST00000333244 Transcript missense_variant 2207/18254 2087/17388 696/5795 A/D gCc/gAc rs565125904 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 deleterious(0.01) probably_damaging(0.991) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS GGC . . 4.874e-05 0.0001309 5.798e-05 7.162e-05 3.251e-05 104953364 GOLGA6L6 . GRCh38 chr15 20534756 20534756 + Missense_Mutation SNP C C T rs1437666719 7316-875 BS_FQ58DAZV C C c.1678G>A p.Val560Met p.V560M ENST00000619213 8/9 36 21 5 33 31 1 GOLGA6L6,missense_variant,p.Val560Met,ENST00000619213,NM_001145004.2; T ENSG00000277322 ENST00000619213 Transcript missense_variant 1769/4013 1678/2175 560/724 V/M Gtg/Atg rs1437666719 1 -1 GOLGA6L6 HGNC HGNC:37225 protein_coding YES CCDS45184.1 ENSP00000480376 A8MZA4 UPI000442CF04 NM_001145004.2 tolerated(1) benign(0) 8/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF20 MODERATE 1 SNV 5 PASS ACC . . 0.0002334 0.0006813 0.0002099 0.0003979 8.538e-05 0.0001665 0.0001571 20534756 TBKBP1 . GRCh38 chr17 47708983 47708983 + Missense_Mutation SNP T T G novel 7316-875 BS_FQ58DAZV T T c.1250T>G p.Val417Gly p.V417G ENST00000361722 8/9 81 70 8 28 28 0 TBKBP1,missense_variant,p.Val417Gly,ENST00000361722,NM_014726.2;TBKBP1,intron_variant,,ENST00000622396,;,regulatory_region_variant,,ENSR00000095201,; G ENSG00000198933 ENST00000361722 Transcript missense_variant 2099/4121 1250/1848 417/615 V/G gTg/gGg 1 1 TBKBP1 HGNC HGNC:30140 protein_coding YES CCDS45722.1 ENSP00000354777 A7MCY6 UPI000006E6FC NM_014726.2 tolerated(0.25) benign(0) 8/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14432,hmmpanther:PTHR14432:SF2 MODERATE 1 SNV 1 PASS GTG . . 47708983 STAP2 . GRCh38 chr19 4324614 4324615 + Frame_Shift_Del DEL TT TT - rs1209054615 7316-875 BS_FQ58DAZV TT TT c.1125_1126del p.Ser376Ter p.S376* ENST00000600324 12/13 78 67 6 31 31 0 STAP2,frameshift_variant,p.Ser376Ter,ENST00000600324,NM_017720.2;STAP2,intron_variant,,ENST00000594605,NM_001013841.1;STAP2,intron_variant,,ENST00000598443,;STAP2,intron_variant,,ENST00000601956,;FSD1,downstream_gene_variant,,ENST00000221856,NM_024333.2;FSD1,downstream_gene_variant,,ENST00000594438,;FSD1,downstream_gene_variant,,ENST00000597480,;FSD1,downstream_gene_variant,,ENST00000597590,NM_001330429.1;FSD1,downstream_gene_variant,,ENST00000601006,;STAP2,downstream_gene_variant,,ENST00000601482,;STAP2,non_coding_transcript_exon_variant,,ENST00000597593,;STAP2,3_prime_UTR_variant,,ENST00000599736,;STAP2,downstream_gene_variant,,ENST00000596242,;FSD1,downstream_gene_variant,,ENST00000598179,;STAP2,downstream_gene_variant,,ENST00000601179,;STAP2,downstream_gene_variant,,ENST00000602007,; - ENSG00000178078 ENST00000600324 Transcript frameshift_variant 1193-1194/1508 1125-1126/1350 375-376/449 SS/SX tcAAgt/tcgt rs1209054615 1 -1 STAP2 HGNC HGNC:30430 protein_coding YES CCDS12128.1 ENSP00000468927 Q9UGK3 UPI00001AF0BC NM_017720.2 12/13 Prints_domain:PR02045,hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF11,mobidb-lite HIGH deletion 2 PASS ACTTG . . 4324613 ZNF414 . GRCh38 chr19 8511734 8511734 + Missense_Mutation SNP A A C novel 7316-875 BS_FQ58DAZV A A c.757T>G p.Phe253Val p.F253V ENST00000393927 5/8 80 65 13 27 27 0 ZNF414,missense_variant,p.Phe253Val,ENST00000393927,NM_001146175.1;ZNF414,missense_variant,p.Phe253Val,ENST00000255616,NM_032370.2;ZNF414,missense_variant,p.Phe100Val,ENST00000593661,;ZNF414,missense_variant,p.Phe86Val,ENST00000594748,;ZNF414,upstream_gene_variant,,ENST00000596772,;ZNF414,non_coding_transcript_exon_variant,,ENST00000602128,;ZNF414,non_coding_transcript_exon_variant,,ENST00000595348,;ZNF414,downstream_gene_variant,,ENST00000599379,;ZNF414,downstream_gene_variant,,ENST00000600906,; C ENSG00000133250 ENST00000393927 Transcript missense_variant 871/2300 757/1173 253/390 F/V Ttc/Gtc 1 -1 ZNF414 HGNC HGNC:20630 protein_coding YES CCDS54211.1 ENSP00000377504 Q96IQ9 UPI000059D659 NM_001146175.1 deleterious(0) probably_damaging(0.969) 5/8 Gene3D:3.30.160.60,hmmpanther:PTHR21695,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 8511734 ZNF791 . GRCh38 chr19 12628430 12628430 + Missense_Mutation SNP A A G rs1172893327 7316-875 BS_FQ58DAZV A A c.901A>G p.Lys301Glu p.K301E ENST00000343325 4/4 93 82 8 49 49 0 ZNF791,missense_variant,p.Lys301Glu,ENST00000343325,NM_153358.2;ZNF791,3_prime_UTR_variant,,ENST00000446165,;ZNF791,downstream_gene_variant,,ENST00000600752,;ZNF490,intron_variant,,ENST00000465656,;ZNF791,downstream_gene_variant,,ENST00000597691,;ZNF791,downstream_gene_variant,,ENST00000598225,; G ENSG00000173875 ENST00000343325 Transcript missense_variant 1063/4554 901/1731 301/576 K/E Aaa/Gaa rs1172893327 1 1 ZNF791 HGNC HGNC:26895 protein_coding YES CCDS12273.1 ENSP00000342974 Q3KP31 UPI0000203455 NM_153358.2 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF26,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TAA . . 12628430 ZNF90 . GRCh38 chr19 20118734 20118734 + Nonsense_Mutation SNP A A T 7316-875 BS_FQ58DAZV A A c.1180A>T p.Lys394Ter p.K394* ENST00000418063 4/4 69 59 5 45 43 0 ZNF90,stop_gained,p.Lys394Ter,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; T ENSG00000213988 ENST00000418063 Transcript stop_gained 1292/2310 1180/1806 394/601 K/* Aag/Tag COSM6304493 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 1 HIGH 1 SNV 1 1 PASS AAA . . 20118734 ZNF43 . GRCh38 chr19 21809031 21809031 + Missense_Mutation SNP G G T rs1181838337 7316-875 BS_FQ58DAZV G G c.1033C>A p.His345Asn p.H345N ENST00000357491 4/4 67 57 7 48 47 0 ZNF43,missense_variant,p.His330Asn,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.His345Asn,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.His330Asn,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.His330Asn,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.His336Asn,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 1167/5249 1033/2457 345/818 H/N Cat/Aat rs1181838337,COSM4457103 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 deleterious(0) benign(0.436) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TGA . . 21809031 ZNF99 . GRCh38 chr19 22757661 22757661 + Missense_Mutation SNP C C A rs760494369 7316-875 BS_FQ58DAZV C C c.2248G>T p.Val750Leu p.V750L ENST00000596209 4/4 60 48 7 51 50 0 ZNF99,missense_variant,p.Val750Leu,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Val659Leu,ENST00000397104,; A ENSG00000213973 ENST00000596209 Transcript missense_variant 2339/7817 2248/2595 750/864 V/L Gta/Tta rs760494369,COSM4280920 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 tolerated(0.32) benign(0) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 5 0,1 PASS ACA . . 0.000118 9.325e-05 6.096e-05 4.965e-05 0.000175 0.0001373 22757661 ZNF99 . GRCh38 chr19 22757830 22757830 + Missense_Mutation SNP C C A 7316-875 BS_FQ58DAZV C C c.2079G>T p.Arg693Ser p.R693S ENST00000596209 4/4 65 43 10 39 38 0 ZNF99,missense_variant,p.Arg693Ser,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Arg602Ser,ENST00000397104,; A ENSG00000213973 ENST00000596209 Transcript missense_variant 2170/7817 2079/2595 693/864 R/S agG/agT COSM1271957 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 tolerated(0.37) benign(0.356) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 5 1 PASS TCC . . 22757830 SBSN . GRCh38 chr19 35527653 35527653 + Missense_Mutation SNP G G A rs80282835 7316-875 BS_FQ58DAZV G G c.629C>T p.Ala210Val p.A210V ENST00000452271 1/4 54 40 6 37 33 0 SBSN,missense_variant,p.Ala210Val,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; A ENSG00000189001 ENST00000452271 Transcript missense_variant 658/1945 629/1773 210/590 A/V gCc/gTc rs80282835,COSM6290357 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 tolerated(0.89) benign(0.006) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS GGC . . 4.771e-05 0.000304 4.075e-05 0.0001071 35527653 ZNF461 . GRCh38 chr19 36638846 36638846 + Missense_Mutation SNP T T A 7316-875 BS_FQ58DAZV T T c.1499A>T p.Lys500Met p.K500M ENST00000588268 6/6 73 58 11 51 50 0 ZNF461,missense_variant,p.Lys500Met,ENST00000588268,NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1;ZNF461,missense_variant,p.Lys477Met,ENST00000360357,NM_001322827.1,NM_001322826.1,NM_001297623.2;ZNF461,missense_variant,p.Lys500Met,ENST00000614133,;ZNF461,missense_variant,p.Lys231Met,ENST00000618437,;ZNF382,downstream_gene_variant,,ENST00000292928,NM_032825.4;ZNF461,downstream_gene_variant,,ENST00000591370,NM_001322828.1;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000588844,;ZNF461,downstream_gene_variant,,ENST00000590361,; A ENSG00000197808 ENST00000588268 Transcript missense_variant 1727/2584 1499/1692 500/563 K/M aAg/aTg COSM5956611,COSM5956610 1 -1 ZNF461 HGNC HGNC:21629 protein_coding YES CCDS54257.1 ENSP00000467931 Q8TAF7 UPI00002021CA NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1 deleterious(0) probably_damaging(0.916) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF277,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS CTT . . 36638846 ZNF546 . GRCh38 chr19 40014686 40014686 + Missense_Mutation SNP G G T rs1316119553 7316-875 BS_FQ58DAZV G G c.1416G>T p.Lys472Asn p.K472N ENST00000347077 7/7 77 65 7 43 41 0 ZNF546,missense_variant,p.Lys472Asn,ENST00000347077,NM_178544.4;ZNF546,missense_variant,p.Lys446Asn,ENST00000600094,NM_001297763.1;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000599504,;ZNF546,downstream_gene_variant,,ENST00000601138,; T ENSG00000187187 ENST00000347077 Transcript missense_variant 1632/7987 1416/2511 472/836 K/N aaG/aaT rs1316119553 1 1 ZNF546 HGNC HGNC:28671 protein_coding YES CCDS12548.1 ENSP00000339823 Q86UE3 UPI00001984E3 NM_178544.4 tolerated(0.49) possibly_damaging(0.883) 7/7 Gene3D:2.30.30.380,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGG . . 40014686 TRIOBP . GRCh38 chr22 37723794 37723794 + Missense_Mutation SNP A A G rs71317064 7316-875 BS_FQ58DAZV A A c.1238A>G p.Lys413Arg p.K413R ENST00000406386 7/24 72 53 11 36 33 0 TRIOBP,missense_variant,p.Lys413Arg,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Lys413Arg,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; G ENSG00000100106 ENST00000406386 Transcript missense_variant 1509/10145 1238/7098 413/2365 K/R aAa/aGa rs71317064,COSM230417 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 tolerated_low_confidence(1) benign(0) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 1 PASS AAA . . 5.702e-05 5.809e-05 4.484e-05 8.061e-05 0.0001842 6.555e-05 37723794 GCNA . GRCh38 chrX 71604186 71604186 + Missense_Mutation SNP A A T rs1183942620 7316-875 BS_FQ58DAZV A A c.909A>T p.Glu303Asp p.E303D ENST00000373695 7/12 63 54 9 42 42 0 GCNA,missense_variant,p.Glu303Asp,ENST00000373695,;GCNA,missense_variant,p.Glu303Asp,ENST00000373696,NM_052957.4;GCNA,upstream_gene_variant,,ENST00000471950,; T ENSG00000147174 ENST00000373695 Transcript missense_variant 1446/3213 909/2076 303/691 E/D gaA/gaT rs1183942620 1 1 GCNA HGNC HGNC:15805 protein_coding YES CCDS35326.1 ENSP00000362799 Q96QF7 UPI0000072023 tolerated_low_confidence(0.42) benign(0.003) 7/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23099 MODERATE 1 SNV 1 PASS AAG . . 71604186 MT-ND4 . GRCh38 chrM 10935 10935 + Missense_Mutation SNP A A G novel 7316-875 BS_FQ58DAZV A A c.176A>G p.Asp59Gly p.D59G ENST00000361381 1/1 442 237 146 5649 4997 44 MT-ND4,missense_variant,p.Asp59Gly,ENST00000361381,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,; G ENSG00000198886 ENST00000361381 Transcript missense_variant 176/1378 176/1378 59/459 D/G gAc/gGc 1 1 MT-ND4 HGNC HGNC:7459 protein_coding YES ENSP00000354961 P03905 H9EC08 UPI0000000AA8 deleterious_low_confidence(0) probably_damaging(0.995) 1/1 PDB-ENSP_mappings:5xtc.r,PDB-ENSP_mappings:5xtd.r,Pfam_domain:PF01059,hmmpanther:PTHR43507,hmmpanther:PTHR43507:SF1,TIGRFAM_domain:TIGR01972 MODERATE 1 SNV 1 PASS GAC . . 10935 LRRC8C . GRCh38 chr1 89713634 89713634 + Missense_Mutation SNP G G A rs1234723917 7316-1767 BS_3A55810M G G c.1064G>A p.Arg355His p.R355H ENST00000370454 3/3 57 41 16 39 39 0 LRRC8C,missense_variant,p.Arg355His,ENST00000370454,NM_032270.4;LRRC8C,intron_variant,,ENST00000479252,;AC093423.3,intron_variant,,ENST00000370453,;LRRC8C,downstream_gene_variant,,ENST00000482063,; A ENSG00000171488 ENST00000370454 Transcript missense_variant 1319/7218 1064/2412 355/803 R/H cGt/cAt rs1234723917 1 1 LRRC8C HGNC HGNC:25075 protein_coding YES CCDS725.1 ENSP00000359483 Q8TDW0 UPI000013E814 NM_032270.4 deleterious(0) probably_damaging(0.999) 3/3 hmmpanther:PTHR43945:SF5,hmmpanther:PTHR43945,Gene3D:3.80.10.10 MODERATE 1 SNV 1 PASS CGT . . 8.14e-06 0.000116 89713634 PLA2G4A . GRCh38 chr1 186870519 186870520 + Splice_Region INS - - AG rs757481718 7316-1767 BS_3A55810M - - c.115+4_115+5dup ENST00000367466 65 57 7 47 46 0 PLA2G4A,splice_region_variant,,ENST00000367466,NM_001311193.1,NM_024420.2;PLA2G4A,splice_region_variant,,ENST00000466600,; AG ENSG00000116711 ENST00000367466 Transcript splice_region_variant,intron_variant rs757481718 1 1 PLA2G4A HGNC HGNC:9035 protein_coding YES CCDS1372.1 ENSP00000356436 P47712 UPI0000203D76 NM_001311193.1,NM_024420.2 3/17 LOW 1 insertion 1 2 1 PASS TAA . . 4.082e-05 8.984e-05 0.0001019 4.496e-05 3.6e-05 0.0001833 186870519 ANAPC1 . GRCh38 chr2 111856852 111856852 + Nonsense_Mutation SNP G G A rs72936240 7316-1767 BS_3A55810M G G c.1393C>T p.Gln465Ter p.Q465* ENST00000341068 12/48 69 58 11 40 38 0 ANAPC1,stop_gained,p.Gln465Ter,ENST00000341068,NM_022662.3;ANAPC1,upstream_gene_variant,,ENST00000427997,;ANAPC1,non_coding_transcript_exon_variant,,ENST00000482177,; A ENSG00000153107 ENST00000341068 Transcript stop_gained 2166/8262 1393/5835 465/1944 Q/* Cag/Tag rs72936240,COSM4132995 1 -1 ANAPC1 HGNC HGNC:19988 protein_coding YES CCDS2093.1 ENSP00000339109 Q9H1A4 UPI000006EC6E NM_022662.3 12/48 PDB-ENSP_mappings:4ui9.A,PDB-ENSP_mappings:5a31.A,PDB-ENSP_mappings:5g04.A,PDB-ENSP_mappings:5g05.A,PDB-ENSP_mappings:5khr.A,PDB-ENSP_mappings:5khu.A,PDB-ENSP_mappings:5l9t.A,PDB-ENSP_mappings:5l9u.A,PDB-ENSP_mappings:5lcw.A,PDB-ENSP_mappings:5lgg.A,hmmpanther:PTHR12827 benign 0,1 HIGH 1 SNV 1 0,1 PASS TGG . . 0.3299 0.2486 0.2675 0.3601 0.1896 0.4279 0.3629 0.3012 0.3269 111856852 OBSL1 . GRCh38 chr2 219570875 219570875 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.358T>G p.Ser120Ala p.S120A ENST00000404537 1/21 99 90 9 36 35 0 OBSL1,missense_variant,p.Ser120Ala,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Ser120Ala,ENST00000603926,NM_001173431.1;OBSL1,missense_variant,p.Ser120Ala,ENST00000373876,;OBSL1,missense_variant,p.Ser120Ala,ENST00000373873,NM_001173408.1;OBSL1,intron_variant,,ENST00000289656,;INHA,upstream_gene_variant,,ENST00000243786,NM_002191.3;OBSL1,intron_variant,,ENST00000465589,;INHA,intron_variant,,ENST00000489456,;OBSL1,intron_variant,,ENST00000491370,;OBSL1,upstream_gene_variant,,ENST00000465149,;,regulatory_region_variant,,ENSR00000130577,; C ENSG00000124006 ENST00000404537 Transcript missense_variant 415/5841 358/5691 120/1896 S/A Tcg/Gcg 1 -1 OBSL1 HGNC HGNC:29092 protein_coding YES CCDS46520.1 ENSP00000385636 O75147 UPI0000E07EA0 NM_015311.2 tolerated(0.15) benign(0.005) 1/21 mobidb-lite,hmmpanther:PTHR13817:SF30,hmmpanther:PTHR13817 MODERATE 1 SNV 1 1 PASS GAT . . 219570875 DNAH12 . GRCh38 chr3 57523585 57523586 + Frame_Shift_Ins INS - - T rs765150880 7316-1767 BS_3A55810M - - c.276dup p.Gly93ArgfsTer14 p.G93Rfs*14 ENST00000311202 4/12 74 63 5 32 29 0 DNAH12,frameshift_variant,p.Gly93ArgfsTer14,ENST00000495027,NM_001291661.1;DNAH12,frameshift_variant,p.Gly93ArgfsTer14,ENST00000351747,;DNAH12,frameshift_variant,p.Gly93ArgfsTer14,ENST00000389536,;DNAH12,frameshift_variant,p.Gly93ArgfsTer14,ENST00000311202,NM_198564.3;DNAH12,non_coding_transcript_exon_variant,,ENST00000613504,;RNF7P1,upstream_gene_variant,,ENST00000478598,; T ENSG00000174844 ENST00000311202 Transcript frameshift_variant 457-458/1555 276-277/1374 92-93/457 -/X -/A rs765150880,TMP_ESP_3_57509313_57509313 1 -1 DNAH12 HGNC HGNC:2943 protein_coding YES CCDS33771.1 ENSP00000312554 Q6ZR08 UPI000036716B NM_198564.3 4/12 hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF310 0.009465 0.005496 HIGH 1 insertion 2 PASS CCT . . 0.001005 0.001649 0.001953 0.0006059 0.00107 0.0001473 0.0009425 0.00167 0.0006964 57523585 MUC4 . GRCh38 chr3 195778964 195778964 + Missense_Mutation SNP C C T rs58500707 7316-1767 BS_3A55810M C C c.12616G>A p.Ala4206Thr p.A4206T ENST00000463781 2/25 69 51 12 38 35 1 MUC4,missense_variant,p.Ala4206Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala4206Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala4206Thr,ENST00000478156,;MUC4,missense_variant,p.Ala4206Thr,ENST00000466475,;MUC4,missense_variant,p.Ala4206Thr,ENST00000477756,;MUC4,missense_variant,p.Ala4206Thr,ENST00000477086,;MUC4,missense_variant,p.Ala4206Thr,ENST00000480843,;MUC4,missense_variant,p.Ala4206Thr,ENST00000462323,;MUC4,missense_variant,p.Ala4206Thr,ENST00000470451,;MUC4,missense_variant,p.Ala4206Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 13076/17110 12616/16239 4206/5412 A/T Gcc/Acc rs58500707,COSM149551 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.01) benign(0.033) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCG . . 0.027 0.05501 0.01626 0.01682 0.08683 0.03394 0.02787 0.02478 0.009678 195778964 MUC4 . GRCh38 chr3 195780044 195780044 + Missense_Mutation SNP G G T rs200614024 7316-1767 BS_3A55810M G G c.11536C>A p.Pro3846Thr p.P3846T ENST00000463781 2/25 41 29 7 26 23 0 MUC4,missense_variant,p.Pro3846Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro3846Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro3846Thr,ENST00000478156,;MUC4,missense_variant,p.Pro3846Thr,ENST00000466475,;MUC4,missense_variant,p.Pro3846Thr,ENST00000477756,;MUC4,missense_variant,p.Pro3846Thr,ENST00000477086,;MUC4,missense_variant,p.Pro3846Thr,ENST00000480843,;MUC4,missense_variant,p.Pro3846Thr,ENST00000462323,;MUC4,missense_variant,p.Pro3846Thr,ENST00000470451,;MUC4,missense_variant,p.Pro3846Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 11996/17110 11536/16239 3846/5412 P/T Cct/Act rs200614024 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.39) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS GGG . . 0.0004883 0.0002087 0.000744 0.000126 0.0009308 0.0005225 0.001892 195780044 FYTTD1 . GRCh38 chr3 197750065 197750065 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.94A>C p.Met32Leu p.M32L ENST00000241502 1/9 98 88 8 40 40 0 FYTTD1,missense_variant,p.Met32Leu,ENST00000241502,NM_032288.6;FYTTD1,intron_variant,,ENST00000415708,NM_001011537.2;FYTTD1,intron_variant,,ENST00000428738,;RUBCN,upstream_gene_variant,,ENST00000273582,NM_001145642.3;FYTTD1,upstream_gene_variant,,ENST00000424384,;FYTTD1,upstream_gene_variant,,ENST00000426031,;RUBCN,upstream_gene_variant,,ENST00000467303,;RUBCN,upstream_gene_variant,,ENST00000472149,;FYTTD1,missense_variant,p.Met32Leu,ENST00000412924,;FYTTD1,missense_variant,p.Met32Leu,ENST00000418169,;FYTTD1,intron_variant,,ENST00000494309,;,regulatory_region_variant,,ENSR00000164605,; C ENSG00000122068 ENST00000241502 Transcript missense_variant 316/6866 94/957 32/318 M/L Atg/Ctg 1 1 FYTTD1 HGNC HGNC:25407 protein_coding YES CCDS3329.1 ENSP00000241502 Q96QD9 A0A024R9K4 UPI0000073CEC NM_032288.6 tolerated(0.06) benign(0.168) 1/9 hmmpanther:PTHR21038,Pfam_domain:PF07078 MODERATE 1 SNV 1 PASS TAT . . 197750065 SLC10A4 . GRCh38 chr4 48483814 48483814 + Missense_Mutation SNP T T G novel 7316-1767 BS_3A55810M T T c.253T>G p.Phe85Val p.F85V ENST00000273861 1/3 142 113 28 39 38 0 SLC10A4,missense_variant,p.Phe85Val,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168127,; G ENSG00000145248 ENST00000273861 Transcript missense_variant 472/1790 253/1314 85/437 F/V Ttc/Gtc 1 1 SLC10A4 HGNC HGNC:22980 protein_coding YES CCDS3482.1 ENSP00000273861 Q96EP9 UPI000006E8DB NM_152679.3 deleterious(0.02) benign(0) 1/3 hmmpanther:PTHR10361:SF41,hmmpanther:PTHR10361 MODERATE 1 SNV 1 PASS GTT . . 48483814 CXXC4 . GRCh38 chr4 104491525 104491525 + Missense_Mutation SNP T T G novel 7316-1767 BS_3A55810M T T c.278A>C p.Asn93Thr p.N93T ENST00000394767 2/3 43 37 6 10 10 0 CXXC4,missense_variant,p.Asn93Thr,ENST00000394767,NM_025212.3;CXXC4-AS1,intron_variant,,ENST00000500179,;CXXC4,intron_variant,,ENST00000466963,;,regulatory_region_variant,,ENSR00000171402,; G ENSG00000168772 ENST00000394767 Transcript missense_variant 729/5565 278/1104 93/367 N/T aAc/aCc 1 -1 CXXC4 HGNC HGNC:24593 protein_coding YES CCDS3665.2 ENSP00000378248 J9JIF5 UPI0000E5AC2D NM_025212.3 deleterious_low_confidence(0.01) unknown(0) 2/3 hmmpanther:PTHR13419:SF1,hmmpanther:PTHR13419 MODERATE SNV 5 PASS GTT . . 104491525 HLA-DQB2 . GRCh38 chr6 32757782 32757782 + Missense_Mutation SNP C C T rs113761247 7316-1767 BS_3A55810M C C c.748G>A p.Gly250Ser p.G250S ENST00000437316 4/6 101 91 9 41 41 0 HLA-DQB2,missense_variant,p.Gly250Ser,ENST00000435145,;HLA-DQB2,missense_variant,p.Gly250Ser,ENST00000437316,NM_001300790.1;HLA-DQB2,intron_variant,,ENST00000411527,NM_001198858.1;HLA-DQB2,intron_variant,,ENST00000427449,; T ENSG00000232629 ENST00000437316 Transcript missense_variant 812/1214 748/795 250/264 G/S Ggt/Agt rs113761247,COSM3830233 1 -1 HLA-DQB2 HGNC HGNC:4945 protein_coding YES CCDS78128.1 ENSP00000396330 Q5SR05 UPI00001AF359 NM_001300790.1 tolerated(1) benign(0) 4/6 hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF68 0,1 MODERATE 1 SNV 0,1 PASS CCC . . 0.05037 0.02814 0.05141 0.0767 0.03079 0.02915 0.05274 0.04361 0.07847 32757782 BRAT1 . GRCh38 chr7 2543920 2543920 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.473T>G p.Leu158Arg p.L158R ENST00000340611 5/14 126 105 14 31 31 0 BRAT1,missense_variant,p.Leu158Arg,ENST00000340611,NM_152743.3;BRAT1,upstream_gene_variant,,ENST00000473879,;BRAT1,missense_variant,p.Cys109Gly,ENST00000421712,;BRAT1,non_coding_transcript_exon_variant,,ENST00000493232,;BRAT1,non_coding_transcript_exon_variant,,ENST00000469750,;BRAT1,non_coding_transcript_exon_variant,,ENST00000467558,;,regulatory_region_variant,,ENSR00000207791,; C ENSG00000106009 ENST00000340611 Transcript missense_variant 730/2915 473/2466 158/821 L/R cTg/cGg 1 -1 BRAT1 HGNC HGNC:21701 protein_coding YES CCDS5334.1 ENSP00000339637 Q6PJG6 UPI00001AEB20 NM_152743.3 deleterious(0) probably_damaging(0.998) 5/14 Gene3D:1.25.10.10,hmmpanther:PTHR21331,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 1 PASS CAG . . 2543920 WIPI2 . GRCh38 chr7 5190424 5190424 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.5A>C p.Asn2Thr p.N2T ENST00000288828 1/13 119 105 12 40 40 0 WIPI2,missense_variant,p.Asn2Thr,ENST00000288828,NM_015610.3;WIPI2,missense_variant,p.Asn2Thr,ENST00000401525,NM_016003.3;WIPI2,missense_variant,p.Asn2Thr,ENST00000382384,NM_001033519.1;WIPI2,missense_variant,p.Asn2Thr,ENST00000404704,NM_001033518.1;WIPI2,non_coding_transcript_exon_variant,,ENST00000485854,;WIPI2,upstream_gene_variant,,ENST00000496867,;WIPI2,non_coding_transcript_exon_variant,,ENST00000466014,;,regulatory_region_variant,,ENSR00000208051,; C ENSG00000157954 ENST00000288828 Transcript missense_variant 237/4476 5/1365 2/454 N/T aAc/aCc 1 1 WIPI2 HGNC HGNC:32225 protein_coding YES CCDS5339.1 ENSP00000288828 Q9Y4P8 A0A024R823 UPI0000073E34 NM_015610.3 deleterious(0.01) possibly_damaging(0.904) 1/13 hmmpanther:PTHR11227:SF27,hmmpanther:PTHR11227 MODERATE 1 SNV 1 PASS AAC . . 5190424 SRRM3 . GRCh38 chr7 76235209 76235209 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.143A>C p.Lys48Thr p.K48T ENST00000611745 2/15 124 103 19 31 31 0 SRRM3,missense_variant,p.Lys48Thr,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,non_coding_transcript_exon_variant,,ENST00000479294,;,regulatory_region_variant,,ENSR00000213884,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 350/3612 143/1962 48/653 K/T aAg/aCg 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 deleterious(0.03) probably_damaging(1) 2/15 hmmpanther:PTHR45041,mobidb-lite MODERATE 1 SNV 5 PASS AAG . . 76235209 REPIN1 . GRCh38 chr7 150368944 150368944 + Splice_Region SNP A A C novel 7316-1767 BS_3A55810M A A c.-42+3A>C ENST00000489432 115 98 12 23 23 0 REPIN1,splice_region_variant,,ENST00000397281,NM_013400.3;REPIN1,splice_region_variant,,ENST00000444957,NM_001099696.2;REPIN1,splice_region_variant,,ENST00000466559,;REPIN1,splice_region_variant,,ENST00000475514,;AC073111.3,splice_region_variant,,ENST00000478789,;REPIN1,splice_region_variant,,ENST00000482680,;REPIN1,splice_region_variant,,ENST00000488943,;REPIN1,splice_region_variant,,ENST00000489432,NM_001099695.1;REPIN1,synonymous_variant,p.Val14=,ENST00000518514,;REPIN1,intron_variant,,ENST00000479668,;REPIN1,intron_variant,,ENST00000519397,;REPIN1,upstream_gene_variant,,ENST00000425389,NM_014374.3;AC005586.1,intron_variant,,ENST00000488310,;REPIN1,upstream_gene_variant,,ENST00000518462,;REPIN1,splice_region_variant,,ENST00000473391,;REPIN1,synonymous_variant,p.Val14=,ENST00000467980,;REPIN1,synonymous_variant,p.Val14=,ENST00000522266,;REPIN1,non_coding_transcript_exon_variant,,ENST00000469309,;REPIN1,non_coding_transcript_exon_variant,,ENST00000495535,;REPIN1,intron_variant,,ENST00000487455,;REPIN1,upstream_gene_variant,,ENST00000486714,;,regulatory_region_variant,,ENSR00000219696,; C ENSG00000214022 ENST00000489432 Transcript splice_region_variant,intron_variant 1 1 REPIN1 HGNC HGNC:17922 protein_coding YES CCDS47745.1 ENSP00000417291 Q9BWE0 UPI0001596898 NM_001099695.1 1/2 LOW 1 SNV 2 PASS TAC . . 150368944 COL14A1 . GRCh38 chr8 120371151 120371151 + Splice_Site SNP G G A novel 7316-1767 BS_3A55810M G G c.5312-1G>A p.X1771_splice ENST00000297848 56 35 21 30 28 0 COL14A1,splice_acceptor_variant,,ENST00000247781,;COL14A1,splice_acceptor_variant,,ENST00000297848,NM_021110.3;COL14A1,downstream_gene_variant,,ENST00000309791,;COL14A1,downstream_gene_variant,,ENST00000440844,; A ENSG00000187955 ENST00000297848 Transcript splice_acceptor_variant 1 1 COL14A1 HGNC HGNC:2191 protein_coding YES CCDS34938.1 ENSP00000297848 Q05707 UPI000046D377 NM_021110.3 47/47 HIGH 1 SNV 5 1 PASS AGC . . 120371151 CER1 . GRCh38 chr9 14720353 14720354 + Frame_Shift_Ins INS - - A novel 7316-1767 BS_3A55810M - - c.540dup p.Val181CysfsTer45 p.V181Cfs*45 ENST00000380911 2/2 82 43 35 28 27 1 CER1,frameshift_variant,p.Val181CysfsTer45,ENST00000380911,NM_005454.2; A ENSG00000147869 ENST00000380911 Transcript frameshift_variant 585-586/1215 540-541/804 180-181/267 -/X -/T 1 -1 CER1 HGNC HGNC:1862 protein_coding YES CCDS6476.1 ENSP00000370297 O95813 UPI0000051056 NM_005454.2 2/2 Gene3D:2.10.90.10,Pfam_domain:PF03045,PIRSF_domain:PIRSF027807,PROSITE_profiles:PS01225,hmmpanther:PTHR15273,hmmpanther:PTHR15273:SF4,SMART_domains:SM00041 HIGH 1 insertion 1 PASS ACA . . 14720353 SVEP1 . GRCh38 chr9 110366564 110366564 + Splice_Region SNP G G T novel 7316-1767 BS_3A55810M G G c.10695-4C>A ENST00000374469 66 53 9 35 30 0 SVEP1,splice_region_variant,,ENST00000374469,NM_153366.3;SVEP1,splice_region_variant,,ENST00000401783,;RNU6-1039P,downstream_gene_variant,,ENST00000383931,; T ENSG00000165124 ENST00000374469 Transcript splice_region_variant,intron_variant 1 -1 SVEP1 HGNC HGNC:15985 protein_coding YES CCDS48004.1 ENSP00000363593 Q4LDE5 UPI000153DA74 NM_153366.3 47/47 LOW 1 SNV 5 PASS GGA . . 110366564 IER5L . GRCh38 chr9 129177151 129177151 + Missense_Mutation SNP T T G novel 7316-1767 BS_3A55810M T T c.902A>C p.Lys301Thr p.K301T ENST00000372491 1/1 102 88 11 19 19 0 IER5L,missense_variant,p.Lys301Thr,ENST00000372491,NM_203434.2;AL158151.1,intron_variant,,ENST00000372490,;AL158151.3,intron_variant,,ENST00000599172,;,regulatory_region_variant,,ENSR00000241963,; G ENSG00000188483 ENST00000372491 Transcript missense_variant 1112/2711 902/1215 301/404 K/T aAg/aCg 1 -1 IER5L HGNC HGNC:23679 protein_coding YES CCDS43888.1 ENSP00000361569 Q5T953 UPI0000160E13 NM_203434.2 deleterious_low_confidence(0) probably_damaging(0.979) 1/1 hmmpanther:PTHR15895,hmmpanther:PTHR15895:SF11,Gene3D:2.130.10.10,Pfam_domain:PF05760 MODERATE SNV PASS CTT . . 129177151 SVIL . GRCh38 chr10 29490918 29490918 + Missense_Mutation SNP A A C rs199726033 7316-1767 BS_3A55810M A A c.4121T>G p.Leu1374Arg p.L1374R ENST00000355867 22/38 102 92 10 35 35 0 SVIL,missense_variant,p.Leu1342Arg,ENST00000375398,;SVIL,missense_variant,p.Leu1374Arg,ENST00000355867,NM_001323599.1,NM_021738.2;SVIL,missense_variant,p.Leu948Arg,ENST00000375400,NM_001323600.1,NM_003174.3;SVIL,missense_variant,p.Leu300Arg,ENST00000632315,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL-AS1,downstream_gene_variant,,ENST00000413405,;SVIL,upstream_gene_variant,,ENST00000482607,;SVIL,downstream_gene_variant,,ENST00000491872,; C ENSG00000197321 ENST00000355867 Transcript missense_variant 4874/7586 4121/6645 1374/2214 L/R cTc/cGc rs199726033,COSM146919 1 -1 SVIL HGNC HGNC:11480 protein_coding YES CCDS7164.1 ENSP00000348128 O95425 UPI0000366678 NM_001323599.1,NM_021738.2 deleterious(0) possibly_damaging(0.506) 22/38 hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF45 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.1071 0.01054 0.06654 0.2243 0.01734 0.1831 0.1105 0.1149 0.1928 29490918 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 86 66 14 30 29 1 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 KRTAP5-4 . GRCh38 chr11 1621759 1621759 + Missense_Mutation SNP C C A rs184758001 7316-1767 BS_3A55810M C C c.335G>T p.Gly112Val p.G112V ENST00000399682 1/1 53 42 8 26 25 0 KRTAP5-4,missense_variant,p.Gly112Val,ENST00000399682,NM_001347674.1;KRTAP5-4,missense_variant,p.Gly112Val,ENST00000616115,; A ENSG00000241598 ENST00000399682 Transcript missense_variant 380/1181 335/687 112/228 G/V gGc/gTc rs184758001,COSM224976 1 -1 KRTAP5-4 HGNC HGNC:23599 protein_coding YES ENSP00000382590 A8MUN0 UPI0000E592E4 NM_001347674.1 deleterious_low_confidence(0.01) probably_damaging(0.998) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF144 0,1 MODERATE 1 SNV 0,1 PASS GCC . . 3.135e-05 9.921e-05 0.0001967 7.066e-05 1.186e-05 1621759 CHST1 . GRCh38 chr11 45665176 45665176 + Splice_Site SNP A A C novel 7316-1767 BS_3A55810M A A c.-227+2T>G ENST00000308064 90 73 12 17 16 1 CHST1,splice_donor_variant,,ENST00000308064,NM_003654.5;CHST1,splice_donor_variant,,ENST00000531322,;,regulatory_region_variant,,ENSR00000039437,; C ENSG00000175264 ENST00000308064 Transcript splice_donor_variant 1 -1 CHST1 HGNC HGNC:1969 protein_coding YES CCDS7913.1 ENSP00000309270 O43916 UPI0000073EA0 NM_003654.5 1/3 HIGH 1 SNV 1 PASS TAC . . 45665176 PTGDR2 . GRCh38 chr11 60852637 60852637 + Missense_Mutation SNP T T G novel 7316-1767 BS_3A55810M T T c.1086A>C p.Glu362Asp p.E362D ENST00000332539 2/2 111 94 17 33 33 0 PTGDR2,missense_variant,p.Glu362Asp,ENST00000332539,NM_004778.2;CCDC86,downstream_gene_variant,,ENST00000227520,NM_024098.3;CCDC86,downstream_gene_variant,,ENST00000545580,;AP000777.3,upstream_gene_variant,,ENST00000538705,;CCDC86,downstream_gene_variant,,ENST00000535217,;,regulatory_region_variant,,ENSR00000040152,; G ENSG00000183134 ENST00000332539 Transcript missense_variant 1198/2895 1086/1188 362/395 E/D gaA/gaC 1 -1 PTGDR2 HGNC HGNC:4502 protein_coding YES CCDS7994.1 ENSP00000332812 Q9Y5Y4 UPI00001B011A NM_004778.2 tolerated_low_confidence(0.62) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR24229:SF8,hmmpanther:PTHR24229 MODERATE 1 SNV 1 PASS GTT . . 60852637 FDX1 . GRCh38 chr11 110430239 110430239 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.119A>C p.Asn40Thr p.N40T ENST00000260270 1/4 114 102 12 36 36 0 FDX1,missense_variant,p.Asn40Thr,ENST00000260270,NM_004109.4;,regulatory_region_variant,,ENSR00000044710,; C ENSG00000137714 ENST00000260270 Transcript missense_variant 357/3206 119/555 40/184 N/T aAc/aCc 1 1 FDX1 HGNC HGNC:3638 protein_coding YES CCDS8344.1 ENSP00000260270 P10109 UPI0000125630 NM_004109.4 tolerated(0.65) benign(0) 1/4 hmmpanther:PTHR23426,hmmpanther:PTHR23426:SF26,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 110430239 TAS2R31 . GRCh38 chr12 11030822 11030822 + Missense_Mutation SNP C C T rs116298721 7316-1767 BS_3A55810M C C c.514G>A p.Val172Met p.V172M ENST00000390675 1/1 77 68 9 37 36 0 TAS2R31,missense_variant,p.Val172Met,ENST00000390675,NM_176885.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; T ENSG00000256436 ENST00000390675 Transcript missense_variant 586/1021 514/930 172/309 V/M Gtg/Atg rs116298721,COSM4146588 1 -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538 UPI000000D820 NM_176885.2 tolerated(0.58) benign(0.026) 1/1 cd15027,hmmpanther:PTHR11394:SF79,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS ACT . . 0.001506 0.0003245 0.004656 0.0003247 0.0008061 0.0004291 0.001426 0.0009346 0.001164 11030822 TAS2R31 . GRCh38 chr12 11030828 11030828 + Missense_Mutation SNP T T G rs75346915 7316-1767 BS_3A55810M T T c.508A>C p.Ser170Arg p.S170R ENST00000390675 1/1 77 66 11 40 39 0 TAS2R31,missense_variant,p.Ser170Arg,ENST00000390675,NM_176885.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; G ENSG00000256436 ENST00000390675 Transcript missense_variant 580/1021 508/930 170/309 S/R Agt/Cgt rs75346915,COSM4146589 1 -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538 UPI000000D820 NM_176885.2 tolerated(0.09) benign(0.007) 1/1 cd15027,hmmpanther:PTHR11394:SF79,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS CTC . . 0.00296 0.0004057 0.009636 0.0008278 0.002088 0.0005693 0.00262 0.002905 0.002524 11030828 PRB4 . GRCh38 chr12 11308682 11308682 + Missense_Mutation SNP T T C rs74855306 7316-1767 BS_3A55810M T T c.301A>G p.Arg101Gly p.R101G ENST00000279575 3/4 56 41 5 36 34 0 PRB4,missense_variant,p.Arg101Gly,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Arg101Gly,ENST00000535904,;PRB4,missense_variant,p.Arg101Gly,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Arg101Gly,ENST00000445719,; C ENSG00000230657 ENST00000279575 Transcript missense_variant 338/916 301/744 101/247 R/G Aga/Gga rs74855306,COSM4146669 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.83) benign(0) 3/4 Pfam_domain:PF15240,Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 5 0,1 PASS CTT . . 4.333e-05 7.543e-05 4.777e-05 4.112e-05 0.0001144 11308682 DDX54 . GRCh38 chr12 113185451 113185451 + Translation_Start_Site SNP T T G novel 7316-1767 BS_3A55810M T T c.1A>C p.Met1? p.M1? ENST00000314045 1/20 95 78 11 37 37 0 DDX54,start_lost,p.Met1?,ENST00000314045,NM_001111322.1;DDX54,start_lost,p.Met1?,ENST00000306014,NM_024072.3;RITA1,upstream_gene_variant,,ENST00000548278,NM_032848.2;RITA1,upstream_gene_variant,,ENST00000549621,;DDX54,upstream_gene_variant,,ENST00000552375,;RITA1,upstream_gene_variant,,ENST00000552495,NM_001286215.1;RITA1,upstream_gene_variant,,ENST00000615042,;AC089999.1,downstream_gene_variant,,ENST00000552525,;DDX54,upstream_gene_variant,,ENST00000551344,;,regulatory_region_variant,,ENSR00000057593,; G ENSG00000123064 ENST00000314045 Transcript start_lost 29/4380 1/2649 1/882 M/L Atg/Ctg 1 -1 DDX54 HGNC HGNC:20084 protein_coding YES CCDS44984.1 ENSP00000323858 Q8TDD1 UPI000006F3A5 NM_001111322.1 deleterious_low_confidence(0) possibly_damaging(0.557) 1/20 mobidb-lite HIGH 1 SNV 1 PASS ATT . . 113185451 CIT . GRCh38 chr12 119752255 119752256 + Splice_Region DEL AG AG - rs147146275 7316-1767 BS_3A55810M AG AG c.2707-9_2707-8del ENST00000392521 76 66 6 43 33 0 CIT,splice_region_variant,,ENST00000261833,NM_007174.2;CIT,splice_region_variant,,ENST00000392520,;CIT,splice_region_variant,,ENST00000392521,NM_001206999.1;CIT,intron_variant,,ENST00000536325,;CIT,intron_variant,,ENST00000612548,;CIT,upstream_gene_variant,,ENST00000546026,;CIT,splice_region_variant,,ENST00000537607,;CIT,splice_region_variant,,ENST00000545913,; - ENSG00000122966 ENST00000392521 Transcript splice_region_variant,intron_variant rs147146275,TMP_ESP_12_120190060_120190061,COSM4774174,COSM4774173 1 -1 CIT HGNC HGNC:1985 protein_coding YES CCDS55891.1 ENSP00000376306 O14578 UPI0000683C41 NM_001206999.1 22/47 0.06867 0.1061 0,0,1,1 LOW 1 deletion 1 0,0,1,1 1 PASS ACAGA . . 0.1196 0.05224 0.1485 0.1485 0.1422 0.0757 0.1077 0.1391 0.188 119752254 RXFP2 . GRCh38 chr13 31802292 31802292 + Frame_Shift_Del DEL A A - rs761227490 7316-1767 BS_3A55810M A A c.2161del p.Ser721ValfsTer9 p.S721Vfs*9 ENST00000298386 18/18 77 69 5 47 43 0 RXFP2,frameshift_variant,p.Ser721ValfsTer9,ENST00000298386,NM_130806.3;RXFP2,frameshift_variant,p.Ser697ValfsTer9,ENST00000380314,NM_001166058.1; - ENSG00000133105 ENST00000298386 Transcript frameshift_variant 2223/3319 2152/2265 718/754 K/X Aaa/aa rs761227490,COSM1366339 1 1 RXFP2 HGNC HGNC:17318 protein_coding YES CCDS9342.1 ENSP00000298386 Q8WXD0 UPI0000049589 NM_130806.3 18/18 Gene3D:1.20.1070.10,hmmpanther:PTHR44091,hmmpanther:PTHR44091:SF1,Low_complexity_(Seg):seg 0,1 HIGH 1 deletion 1 9 0,1 1 PASS TTAA . . 0.0002008 7.348e-05 0.0001024 0.000245 0.0006074 31802291 FRY . GRCh38 chr13 32239759 32239759 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.6565A>C p.Met2189Leu p.M2189L ENST00000542859 46/61 71 51 20 36 36 0 FRY,missense_variant,p.Met2189Leu,ENST00000542859,NM_023037.2;FRY,missense_variant,p.Met2139Leu,ENST00000645780,;FRY,missense_variant,p.Met2234Leu,ENST00000647500,;FRY,missense_variant,p.Met2189Leu,ENST00000642040,;FRY,missense_variant,p.Met2188Leu,ENST00000380250,; C ENSG00000073910 ENST00000542859 Transcript missense_variant 7061/13200 6565/9042 2189/3013 M/L Atg/Ctg 1 1 FRY HGNC HGNC:20367 protein_coding YES CCDS41875.1 ENSP00000445043 Q5TBA9 UPI000046FD40 NM_023037.2 deleterious(0) probably_damaging(0.993) 46/61 Pfam_domain:PF14225,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29 MODERATE 1 SNV 5 1 PASS CAT . . 32239759 MYCBP2 . GRCh38 chr13 77326654 77326654 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.8T>G p.Val3Gly p.V3G ENST00000544440 1/83 88 77 10 26 26 0 MYCBP2,missense_variant,p.Val3Gly,ENST00000357337,NM_015057.4;MYCBP2,missense_variant,p.Val3Gly,ENST00000544440,;MYCBP2,non_coding_transcript_exon_variant,,ENST00000491491,;,regulatory_region_variant,,ENSR00000064029,; C ENSG00000005810 ENST00000544440 Transcript missense_variant 26/14664 8/13923 3/4640 V/G gTt/gGt 1 -1 MYCBP2 HGNC HGNC:23386 protein_coding YES ENSP00000444596 O75592 UPI0000212757 tolerated_low_confidence(0.57) benign(0) 1/83 MODERATE 1 SNV 1 PASS AAC . . 77326654 NPAS3 . GRCh38 chr14 33800592 33800592 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.2285A>C p.Asn762Thr p.N762T ENST00000356141 12/12 47 40 7 30 30 0 NPAS3,missense_variant,p.Asn730Thr,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Asn732Thr,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Asn767Thr,ENST00000551492,;NPAS3,missense_variant,p.Asn762Thr,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Asn749Thr,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Asn736Thr,ENST00000551634,; C ENSG00000151322 ENST00000356141 Transcript missense_variant 2285/2802 2285/2802 762/933 N/T aAc/aCc 1 1 NPAS3 HGNC HGNC:19311 protein_coding YES CCDS53891.1 ENSP00000348460 Q8IXF0 X5D2Q4 UPI00000743C2 NM_001164749.1 tolerated_low_confidence(1) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF30 MODERATE 1 SNV 1 PASS AAC . . 33800592 UBAP1L . GRCh38 chr15 65102153 65102153 + Missense_Mutation SNP T T C rs923123336 7316-1767 BS_3A55810M T T c.652A>G p.Thr218Ala p.T218A ENST00000559089 3/6 142 46 87 21 17 3 UBAP1L,missense_variant,p.Thr218Ala,ENST00000559089,;UBAP1L,missense_variant,p.Thr218Ala,ENST00000502113,NM_001163692.1;UBAP1L,intron_variant,,ENST00000558802,;UBAP1L,upstream_gene_variant,,ENST00000561387,;,regulatory_region_variant,,ENSR00000078045,;AC013553.1,upstream_gene_variant,,ENST00000560906,; C ENSG00000246922 ENST00000559089 Transcript missense_variant 873/1694 652/1146 218/381 T/A Acg/Gcg rs923123336 1 -1 UBAP1L HGNC HGNC:40028 protein_coding YES CCDS53948.1 ENSP00000454012 F5GYI3 UPI00004DD5A3 tolerated(0.17) benign(0.082) 3/6 hmmpanther:PTHR15960,hmmpanther:PTHR15960:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 65102153 IL32 . GRCh38 chr16 3069296 3069297 + Frame_Shift_Ins INS - - G rs71818662 7316-1767 BS_3A55810M - - c.652dup p.Asp218GlyfsTer12 p.D218Gfs*12 ENST00000534507 6/6 102 79 15 27 23 0 IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000525643,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000526464,;IL32,frameshift_variant,p.Asp218GlyfsTer12,ENST00000534507,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000325568,NM_004221.4,NM_001012718.1;IL32,frameshift_variant,p.Asp218GlyfsTer12,ENST00000396890,NM_001308078.1;IL32,frameshift_variant,p.Asp152GlyfsTer12,ENST00000008180,NM_001012634.1;IL32,frameshift_variant,p.Asp152GlyfsTer12,ENST00000613483,;IL32,frameshift_variant,p.Asp218GlyfsTer12,ENST00000548476,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000528163,NM_001012631.1;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000440815,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000444393,;IL32,frameshift_variant,p.Asp163GlyfsTer12,ENST00000382213,NM_001012636.1;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000533097,;IL32,frameshift_variant,p.Asp163GlyfsTer12,ENST00000548652,;IL32,frameshift_variant,p.Asp218GlyfsTer?,ENST00000548807,;IL32,frameshift_variant,p.Asp209GlyfsTer12,ENST00000551513,;IL32,frameshift_variant,p.Asp115GlyfsTer12,ENST00000396887,NM_001012633.1;IL32,frameshift_variant,p.Asp152GlyfsTer12,ENST00000530890,NM_001012635.1;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000529550,;IL32,frameshift_variant,p.Asp162GlyfsTer12,ENST00000531965,;IL32,frameshift_variant,p.Asp115GlyfsTer12,ENST00000551122,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000552664,NM_001012632.1;IL32,frameshift_variant,p.Asp196GlyfsTer12,ENST00000552936,;IL32,frameshift_variant,p.Asp172GlyfsTer12,ENST00000530538,;IL32,frameshift_variant,p.Asp152GlyfsTer12,ENST00000529699,;IL32,frameshift_variant,p.Asp115GlyfsTer12,ENST00000549213,;IL32,frameshift_variant,p.Asp152GlyfsTer12,ENST00000552356,;IL32,frameshift_variant,p.Asp132GlyfsTer12,ENST00000548246,;IL32,intron_variant,,ENST00000525377,;IL32,downstream_gene_variant,,ENST00000525228,;RNU1-125P,upstream_gene_variant,,ENST00000516752,;IL32,non_coding_transcript_exon_variant,,ENST00000525003,;IL32,non_coding_transcript_exon_variant,,ENST00000528652,;IL32,downstream_gene_variant,,ENST00000532086,;IL32,downstream_gene_variant,,ENST00000532247,;IL32,downstream_gene_variant,,ENST00000534748,; G ENSG00000008517 ENST00000534507 Transcript frameshift_variant 857-858/1112 646-647/705 216/234 R/RX cgg/cGgg rs71818662 1 1 IL32 HGNC HGNC:16830 protein_coding YES CCDS76811.1 ENSP00000431775 P24001 UPI0000070836 6/6 mobidb-lite HIGH 1 insertion 2 6 PASS ACG . . 0.4028 0.2297 0.3373 0.4299 0.3663 0.4342 0.4345 0.417 0.427 3069296 IL32 . GRCh38 chr16 3069303 3069303 + Missense_Mutation SNP A A G rs2981599 7316-1767 BS_3A55810M A A c.653A>G p.Asp218Gly p.D218G ENST00000534507 6/6 101 85 15 25 23 0 IL32,missense_variant,p.Asp172Gly,ENST00000525643,;IL32,missense_variant,p.Asp172Gly,ENST00000526464,;IL32,missense_variant,p.Asp218Gly,ENST00000534507,;IL32,missense_variant,p.Asp172Gly,ENST00000325568,NM_004221.4,NM_001012718.1;IL32,missense_variant,p.Asp218Gly,ENST00000396890,NM_001308078.1;IL32,missense_variant,p.Asp152Gly,ENST00000008180,NM_001012634.1;IL32,missense_variant,p.Asp152Gly,ENST00000613483,;IL32,missense_variant,p.Asp218Gly,ENST00000548476,;IL32,missense_variant,p.Asp172Gly,ENST00000528163,NM_001012631.1;IL32,missense_variant,p.Asp172Gly,ENST00000440815,;IL32,missense_variant,p.Asp172Gly,ENST00000444393,;IL32,missense_variant,p.Asp163Gly,ENST00000382213,NM_001012636.1;IL32,missense_variant,p.Asp172Gly,ENST00000533097,;IL32,missense_variant,p.Asp163Gly,ENST00000548652,;IL32,missense_variant,p.Asp218Gly,ENST00000548807,;IL32,missense_variant,p.Asp209Gly,ENST00000551513,;IL32,missense_variant,p.Asp115Gly,ENST00000396887,NM_001012633.1;IL32,missense_variant,p.Asp152Gly,ENST00000530890,NM_001012635.1;IL32,missense_variant,p.Asp172Gly,ENST00000529550,;IL32,missense_variant,p.Asp162Gly,ENST00000531965,;IL32,missense_variant,p.Asp115Gly,ENST00000551122,;IL32,missense_variant,p.Asp172Gly,ENST00000552664,NM_001012632.1;IL32,missense_variant,p.Asp196Gly,ENST00000552936,;IL32,missense_variant,p.Asp172Gly,ENST00000530538,;IL32,missense_variant,p.Asp152Gly,ENST00000529699,;IL32,missense_variant,p.Asp115Gly,ENST00000549213,;IL32,missense_variant,p.Asp152Gly,ENST00000552356,;IL32,missense_variant,p.Asp132Gly,ENST00000548246,;IL32,intron_variant,,ENST00000525377,;IL32,downstream_gene_variant,,ENST00000525228,;RNU1-125P,upstream_gene_variant,,ENST00000516752,;IL32,non_coding_transcript_exon_variant,,ENST00000525003,;IL32,non_coding_transcript_exon_variant,,ENST00000528652,;IL32,downstream_gene_variant,,ENST00000532086,;IL32,downstream_gene_variant,,ENST00000532247,;IL32,downstream_gene_variant,,ENST00000534748,; G ENSG00000008517 ENST00000534507 Transcript missense_variant 864/1112 653/705 218/234 D/G gAc/gGc rs2981599,COSM1629876 1 1 IL32 HGNC HGNC:16830 protein_coding YES CCDS76811.1 ENSP00000431775 P24001 UPI0000070836 tolerated_low_confidence(0.61) benign(0) 6/6 mobidb-lite 0,1 MODERATE 1 SNV 2 0,1 PASS GAC . . 0.402 0.2298 0.336 0.43 0.3641 0.4338 0.4337 0.4158 0.4265 3069303 NF1 . GRCh38 chr17 31206360 31206360 + Nonsense_Mutation SNP C C T rs878853865 7316-1767 BS_3A55810M C C c.1381C>T p.Arg461Ter p.R461* ENST00000358273 12/58 58 24 34 30 30 0 NF1,stop_gained,p.Arg461Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Arg461Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Arg127Ter,ENST00000456735,;NF1,stop_gained,p.Arg461Ter,ENST00000431387,NM_001128147.2;NF1,stop_gained,p.Arg461Ter,ENST00000487476,;NF1,stop_gained,p.Arg495Ter,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,; T ENSG00000196712 ENST00000358273 Transcript stop_gained 1764/12425 1381/8520 461/2839 R/* Cga/Tga rs878853865,CM000780,COSM977404,COSM24464 1 1 NF1 HGNC HGNC:7765 protein_coding YES CCDS42292.1 ENSP00000351015 P21359 UPI000012FFAE NM_001042492.2 12/58 Gene3D:1.25.10.10 pathogenic 0,0,1,1 HIGH 1 SNV 1 1,1,1,1 1 PASS ACG . . 31206360 AC011498.5 . GRCh38 chr19 4621242 4621243 + Splice_Region INS - - T novel 7316-1767 BS_3A55810M - - n.43+7dup ENST00000592027 70 51 9 16 13 0 AC011498.5,splice_region_variant,,ENST00000592027,; T ENSG00000267408 ENST00000592027 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 AC011498.5 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/2 LOW 1 insertion 1 PASS TCT . . 4621242 SAMD1 . GRCh38 chr19 14090369 14090369 + Missense_Mutation SNP T T G novel 7316-1767 BS_3A55810M T T c.52A>C p.Thr18Pro p.T18P ENST00000533683 1/5 67 48 12 16 16 0 SAMD1,missense_variant,p.Thr18Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 340/2164 52/1299 18/432 T/P Acg/Ccg 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.063) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090369 ZNF154 . GRCh38 chr19 57702106 57702106 + Missense_Mutation SNP A A T novel 7316-1767 BS_3A55810M A A c.843T>A p.Phe281Leu p.F281L ENST00000512439 3/4 60 49 5 34 32 0 ZNF154,missense_variant,p.Phe281Leu,ENST00000512439,NM_001085384.2;AC003006.1,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC003006.1,intron_variant,,ENST00000599221,;ZNF154,missense_variant,p.Phe281Leu,ENST00000451275,; T ENSG00000179909 ENST00000512439 Transcript missense_variant 1040/5687 843/1314 281/437 F/L ttT/ttA 1 -1 ZNF154 HGNC HGNC:12939 protein_coding YES CCDS42639.1 ENSP00000421258 Q13106 A0A024R4Q0 UPI00001D819A NM_001085384.2 tolerated(0.15) benign(0.265) 3/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF676,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.40.155.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAA . . 57702106 RUNX1 . GRCh38 chr21 34792308 34792308 + Missense_Mutation SNP A A C novel 7316-1767 BS_3A55810M A A c.1270T>G p.Ser424Ala p.S424A ENST00000300305 8/8 83 56 12 28 25 0 RUNX1,missense_variant,p.Ser397Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Ser424Ala,ENST00000300305,;RUNX1,missense_variant,p.Ser424Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser333Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1715/6222 1270/1443 424/480 S/A Tcg/Gcg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) possibly_damaging(0.453) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS GAG . . 34792308 RUNX1 . GRCh38 chr21 34792313 34792313 + Missense_Mutation SNP T T G novel 7316-1767 BS_3A55810M T T c.1265A>C p.Glu422Ala p.E422A ENST00000300305 8/8 88 60 12 29 26 1 RUNX1,missense_variant,p.Glu395Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Glu422Ala,ENST00000300305,;RUNX1,missense_variant,p.Glu422Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Glu331Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; G ENSG00000159216 ENST00000300305 Transcript missense_variant 1710/6222 1265/1443 422/480 E/A gAg/gCg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) benign(0.079) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS CTC . . 34792313 HUWE1 . GRCh38 chrX 53683871 53683871 + Splice_Region SNP T T G novel 7316-1767 BS_3A55810M T T c.-163+3A>C ENST00000342160 43 33 8 15 15 0 HUWE1,splice_region_variant,,ENST00000342160,;HUWE1,splice_region_variant,,ENST00000446750,;HUWE1,intron_variant,,ENST00000262854,NM_031407.6;HUWE1,intron_variant,,ENST00000218328,;,regulatory_region_variant,,ENSR00000246714,; G ENSG00000086758 ENST00000342160 Transcript splice_region_variant,intron_variant 1 -1 HUWE1 HGNC HGNC:30892 protein_coding YES CCDS35301.1 ENSP00000340648 Q7Z6Z7 A0A024R9W5 UPI00004A0DAC 1/82 LOW 1 SNV 5 1 PASS CTA . . 53683871 IL13RA1 . GRCh38 chrX 118727723 118727723 + Missense_Mutation SNP A A C rs1456686843 7316-1767 BS_3A55810M A A c.85A>C p.Thr29Pro p.T29P ENST00000371666 1/11 89 78 8 34 34 0 IL13RA1,missense_variant,p.Thr29Pro,ENST00000371666,NM_001560.2;IL13RA1,missense_variant,p.Thr29Pro,ENST00000371642,;,regulatory_region_variant,,ENSR00000248290,; C ENSG00000131724 ENST00000371666 Transcript missense_variant 152/4036 85/1284 29/427 T/P Acg/Ccg rs1456686843 1 1 IL13RA1 HGNC HGNC:5974 protein_coding YES CCDS14573.1 ENSP00000360730 P78552 UPI0000000CA3 NM_001560.2 tolerated(0.08) benign(0.012) 1/11 Transmembrane_helices:TMhelix,hmmpanther:PTHR23036:SF89,hmmpanther:PTHR23036,Gene3D:2.60.40.10 MODERATE 1 SNV 1 PASS TAC . . 118727723 DKC1 . GRCh38 chrX 154776814 154776816 + In_Frame_Del DEL AAG AAG - 7316-1767 BS_3A55810M AAG AAG c.1512_1514del p.Lys505del p.K505del ENST00000369550 15/15 85 65 7 34 30 0 DKC1,inframe_deletion,p.Lys505del,ENST00000369550,NM_001363.4,NM_001142463.2;DKC1,3_prime_UTR_variant,,ENST00000620277,NM_001288747.1;MPP1,downstream_gene_variant,,ENST00000369534,NM_002436.3,NM_001166460.1;MPP1,downstream_gene_variant,,ENST00000393531,NM_001166461.1;MPP1,downstream_gene_variant,,ENST00000413259,NM_001166462.1;MPP1,downstream_gene_variant,,ENST00000453245,;SNORA56,downstream_gene_variant,,ENST00000383966,;DKC1,non_coding_transcript_exon_variant,,ENST00000492372,;DKC1,downstream_gene_variant,,ENST00000475966,;DKC1,downstream_gene_variant,,ENST00000412124,;DKC1,downstream_gene_variant,,ENST00000426673,;MPP1,downstream_gene_variant,,ENST00000439370,;DKC1,downstream_gene_variant,,ENST00000481062,;MPP1,downstream_gene_variant,,ENST00000482757,;MPP1,downstream_gene_variant,,ENST00000491955,; - ENSG00000130826 ENST00000369550 Transcript inframe_deletion 1702-1704/2577 1492-1494/1545 498/514 K/- AAG/- COSM1466890 1 1 DKC1 HGNC HGNC:2890 protein_coding YES CCDS14761.1 ENSP00000358563 O60832 UPI00000325ED NM_001363.4,NM_001142463.2 15/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23127 1 MODERATE 1 deletion 1 20 1 1 PASS CCAAGA . . 154776813 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-891 BS_CJFTT8ZC T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 56 36 11 42 40 0 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 FLG2 . GRCh38 chr1 152352351 152352351 + Missense_Mutation SNP T T G novel 7316-891 BS_CJFTT8ZC T T c.5435A>C p.His1812Pro p.H1812P ENST00000388718 3/3 69 61 6 33 30 0 FLG2,missense_variant,p.His1812Pro,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 5508/9124 5435/7176 1812/2391 H/P cAc/cCc 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 deleterious(0) possibly_damaging(0.55) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS GTG . . 152352351 COL3A1 . GRCh38 chr2 189006384 189006384 + Missense_Mutation SNP G G A rs149722210 7316-891 BS_CJFTT8ZC G G c.3133G>A p.Ala1045Thr p.A1045T ENST00000304636 43/51 68 62 6 49 49 0 COL3A1,missense_variant,p.Ala1045Thr,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000467886,;COL3A1,upstream_gene_variant,,ENST00000487010,; A ENSG00000168542 ENST00000304636 Transcript missense_variant 3303/5543 3133/4401 1045/1466 A/T Gct/Act rs149722210,CM122890 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 tolerated(0.09) possibly_damaging(0.772) 43/51 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604 0.0018 0.0069 0.001 0.001 0.0004539 uncertain_significance,benign 25637381 MODERATE 1 SNV 1 1,1 1 PASS CGC . . 0.0005687 0.000196 5.956e-05 0.0001016 0.005455 8.958e-05 0.0001823 0.0009421 189006384 PIK3CA . GRCh38 chr3 179199136 179199136 + Missense_Mutation SNP C C G 7316-891 BS_CJFTT8ZC C C c.311C>G p.Pro104Arg p.P104R ENST00000263967 2/21 47 40 6 40 40 0 PIK3CA,missense_variant,p.Pro104Arg,ENST00000263967,NM_006218.3;PIK3CA,missense_variant,p.Pro104Arg,ENST00000643187,;PIK3CA,missense_variant,p.Pro104Arg,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,; G ENSG00000121879 ENST00000263967 Transcript missense_variant 468/9093 311/3207 104/1068 P/R cCa/cGa COSM747,COSM5026082,COSM163485,COSM1484857 1 1 PIK3CA HGNC HGNC:8975 protein_coding YES CCDS43171.1 ENSP00000263967 P42336 UPI000013D494 NM_006218.3 tolerated(0.1) benign(0.291) 2/21 PDB-ENSP_mappings:2rd0.A,Gene3D:3.10.20.90,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5uk8.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,Pfam_domain:PF02192,PROSITE_profiles:PS51544,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF94,SMART_domains:SM00143 1,1,1,1 MODERATE 1 SNV 2 1,1,1,1 1 PASS CCA . . 179199136 LMLN . GRCh38 chr3 198024655 198024655 + Splice_Region SNP C C G novel 7316-891 BS_CJFTT8ZC C C c.1637-3C>G ENST00000420910 81 74 7 56 52 0 LMLN,splice_region_variant,,ENST00000330198,NM_033029.3;LMLN,splice_region_variant,,ENST00000332636,;LMLN,splice_region_variant,,ENST00000420910,NM_001136049.2;LMLN,splice_region_variant,,ENST00000482695,;LMLN,splice_region_variant,,ENST00000451139,; G ENSG00000185621 ENST00000420910 Transcript splice_region_variant,intron_variant 1 1 LMLN HGNC HGNC:15991 protein_coding YES CCDS46988.1 ENSP00000410926 Q96KR4 UPI000192C367 NM_001136049.2 14/16 LOW 1 SNV 1 PASS TCA . . 198024655 LOX . GRCh38 chr5 122077844 122077844 + Missense_Mutation SNP A A C novel 7316-891 BS_CJFTT8ZC A A c.142T>G p.Trp48Gly p.W48G ENST00000231004 1/7 87 78 8 38 38 0 LOX,missense_variant,p.Trp48Gly,ENST00000231004,NM_002317.6,NM_001178102.2,NM_001317073.1;LOX,missense_variant,p.Trp48Gly,ENST00000639739,;SRFBP1,downstream_gene_variant,,ENST00000504881,;LOX,upstream_gene_variant,,ENST00000505593,;LOX,upstream_gene_variant,,ENST00000513319,;LOX,upstream_gene_variant,,ENST00000503759,;LOX,upstream_gene_variant,,ENST00000508067,;,regulatory_region_variant,,ENSR00000316922,; C ENSG00000113083 ENST00000231004 Transcript missense_variant 442/5102 142/1254 48/417 W/G Tgg/Ggg 1 -1 LOX HGNC HGNC:6664 protein_coding YES CCDS4129.1 ENSP00000231004 P28300 D0PNI2 UPI000012EA87 NM_002317.6,NM_001178102.2,NM_001317073.1 deleterious(0.01) benign(0.028) 1/7 hmmpanther:PTHR44645:SF3,hmmpanther:PTHR44645 MODERATE 1 SNV 1 1 PASS CAT . . 122077844 MDC1 . GRCh38 chr6 30705308 30705308 + Missense_Mutation SNP C C T rs200569280 7316-891 BS_CJFTT8ZC C C c.3875G>A p.Arg1292Gln p.R1292Q ENST00000376406 10/15 66 49 11 34 34 0 MDC1,missense_variant,p.Arg1292Gln,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 4523/7576 3875/6270 1292/2089 R/Q cGg/cAg rs200569280,COSM3733953,COSM3733952 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 0,1,1 MODERATE SNV 5 0,1,1 PASS CCG . . 0.0002223 0.0008631 0.0001143 0.0003733 0.0001243 0.0002762 30705308 HLA-C . GRCh38 chr6 31272044 31272044 + Missense_Mutation SNP G G T rs2308527 7316-891 BS_CJFTT8ZC G G c.28C>A p.Leu10Ile p.L10I ENST00000376228 1/8 52 38 13 22 21 1 HLA-C,missense_variant,p.Leu10Ile,ENST00000383329,;HLA-C,missense_variant,p.Leu10Ile,ENST00000376228,NM_002117.5;HLA-C,missense_variant,p.Leu10Ile,ENST00000415537,;HLA-C,5_prime_UTR_variant,,ENST00000640219,;HLA-B,intron_variant,,ENST00000640615,;HLA-C,missense_variant,p.Leu10Ile,ENST00000376237,;HLA-C,non_coding_transcript_exon_variant,,ENST00000487245,;HLA-C,non_coding_transcript_exon_variant,,ENST00000495835,;HLA-C,non_coding_transcript_exon_variant,,ENST00000484378,;HLA-C,upstream_gene_variant,,ENST00000466892,;HLA-C,upstream_gene_variant,,ENST00000470363,;,regulatory_region_variant,,ENSR00000195522,;USP8P1,upstream_gene_variant,,ENST00000494673,; T ENSG00000204525 ENST00000376228 Transcript missense_variant 43/1536 28/1101 10/366 L/I Ctc/Atc rs2308527,COSM4160776,COSM4160775,COSM4160774 1 -1 HLA-C HGNC HGNC:4933 protein_coding YES CCDS34393.1 ENSP00000365402 P10321 Q6R739 UPI000008AEBB NM_002117.5 deleterious_low_confidence(0.01) benign(0.003) 1/8 PDB-ENSP_mappings:3bzf.P,PDB-ENSP_mappings:3bzf.Q,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF186,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0.6074 0.7291 0.7698 0.6402 0.6339 0.5842 0.6047 0,1,1,1 MODERATE 1 SNV 0,1,1,1 1 PASS AGG . . 0.6358 0.6007 0.675 0.7897 0.7574 0.6246 0.6034 0.6397 0.6152 31272044 HLA-C . GRCh38 chr6 31272050 31272050 + Missense_Mutation SNP C C T rs2308525 7316-891 BS_CJFTT8ZC C C c.22G>A p.Ala8Thr p.A8T ENST00000376228 1/8 53 38 14 20 19 1 HLA-C,missense_variant,p.Ala8Thr,ENST00000383329,;HLA-C,missense_variant,p.Ala8Thr,ENST00000376228,NM_002117.5;HLA-C,missense_variant,p.Ala8Thr,ENST00000415537,;HLA-C,5_prime_UTR_variant,,ENST00000640219,;HLA-B,intron_variant,,ENST00000640615,;HLA-C,missense_variant,p.Ala8Thr,ENST00000376237,;HLA-C,non_coding_transcript_exon_variant,,ENST00000487245,;HLA-C,non_coding_transcript_exon_variant,,ENST00000495835,;HLA-C,non_coding_transcript_exon_variant,,ENST00000484378,;HLA-C,upstream_gene_variant,,ENST00000466892,;HLA-C,upstream_gene_variant,,ENST00000470363,;,regulatory_region_variant,,ENSR00000195522,;USP8P1,upstream_gene_variant,,ENST00000494673,; T ENSG00000204525 ENST00000376228 Transcript missense_variant 37/1536 22/1101 8/366 A/T Gcc/Acc rs2308525,COSM4160779,COSM4160778,COSM4160777 1 -1 HLA-C HGNC HGNC:4933 protein_coding YES CCDS34393.1 ENSP00000365402 P10321 Q6R739 UPI000008AEBB NM_002117.5 tolerated_low_confidence(1) benign(0) 1/8 PDB-ENSP_mappings:3bzf.P,PDB-ENSP_mappings:3bzf.Q,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF186,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0.7532 0.7095 0.8026 0.8135 0.7157 0.7536 0.6914 0.6785 0,1,1,1 MODERATE 1 SNV 0,1,1,1 1 PASS GCT . . 0.7181 0.7087 0.7427 0.8416 0.8037 0.7104 0.6787 0.7326 0.7506 31272050 SLC35A1 . GRCh38 chr6 87473026 87473026 + Splice_Region SNP A A C novel 7316-891 BS_CJFTT8ZC A A c.16+7A>C ENST00000369552 115 106 9 50 50 0 SLC35A1,splice_region_variant,,ENST00000369552,NM_006416.4;SLC35A1,splice_region_variant,,ENST00000369556,NM_001168398.1;SLC35A1,splice_region_variant,,ENST00000369557,;SLC35A1,upstream_gene_variant,,ENST00000622775,;SLC35A1,intron_variant,,ENST00000464978,;AL049697.1,intron_variant,,ENST00000506888,;AL049697.1,intron_variant,,ENST00000513191,;AL049697.1,intron_variant,,ENST00000507897,;,regulatory_region_variant,,ENSR00000199750,; C ENSG00000164414 ENST00000369552 Transcript splice_region_variant,intron_variant 1 1 SLC35A1 HGNC HGNC:11021 protein_coding YES CCDS5010.1 ENSP00000358565 P78382 UPI0000127BDD NM_006416.4 1/7 LOW 1 SNV 1 1 PASS AAC . . 87473026 FAM120B . GRCh38 chr6 170318489 170318489 + Missense_Mutation SNP G G A rs748384723 7316-891 BS_CJFTT8ZC G G c.1168G>A p.Val390Met p.V390M ENST00000537664 2/11 73 58 6 39 37 0 FAM120B,missense_variant,p.Val367Met,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Val379Met,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Val390Met,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; A ENSG00000112584 ENST00000537664 Transcript missense_variant 1253/3212 1168/2802 390/933 V/M Gtg/Atg rs748384723 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(0.65) benign(0) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 MODERATE 1 SNV 2 PASS CGT . . 2.504e-05 0.0001268 9.064e-06 3.378e-05 170318489 ZAN . GRCh38 chr7 100752452 100752452 + Missense_Mutation SNP C C A 7316-891 BS_CJFTT8ZC C C c.2347C>A p.Pro783Thr p.P783T ENST00000613979 14/48 32 21 6 36 30 0 ZAN,missense_variant,p.Pro783Thr,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Pro783Thr,ENST00000618565,;ZAN,missense_variant,p.Pro783Thr,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Pro783Thr,ENST00000546292,;ZAN,missense_variant,p.Pro783Thr,ENST00000542585,;ZAN,missense_variant,p.Pro783Thr,ENST00000538115,;ZAN,missense_variant,p.Pro783Thr,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,; A ENSG00000146839 ENST00000613979 Transcript missense_variant 2512/8669 2347/8439 783/2812 P/T Ccc/Acc COSM6882469 1 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 A0A087WU49 UPI000441C79E NM_003386.2 deleterious(0.02) benign(0.037) 14/48 Low_complexity_(Seg):seg,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS CCC . . 100752452 TRBV5-5 . GRCh38 chr7 142482822 142482822 + Missense_Mutation SNP A A C rs541363853 7316-891 BS_CJFTT8ZC A A c.146A>C p.Lys49Thr p.K49T ENST00000390372 2/2 72 59 12 51 50 1 TRBV5-5,missense_variant,p.Lys49Thr,ENST00000390372,;,regulatory_region_variant,,ENSR00000219254,; C ENSG00000211725 ENST00000390372 Transcript missense_variant 153/350 146/343 49/114 K/T aAg/aCg rs541363853 1 1 TRBV5-5 HGNC HGNC:12222 TR_V_gene YES ENSP00000374895 A0A597 UPI00001140E8 tolerated(0.82) benign(0) 2/2 0.001 MODERATE 1 SNV PASS AAG . . 142482822 TRBV5-5 . GRCh38 chr7 142482823 142482823 + Missense_Mutation SNP G G C rs573114484 7316-891 BS_CJFTT8ZC G G c.147G>C p.Lys49Asn p.K49N ENST00000390372 2/2 72 59 12 51 50 1 TRBV5-5,missense_variant,p.Lys49Asn,ENST00000390372,;,regulatory_region_variant,,ENSR00000219254,; C ENSG00000211725 ENST00000390372 Transcript missense_variant 154/350 147/343 49/114 K/N aaG/aaC rs573114484 1 1 TRBV5-5 HGNC HGNC:12222 TR_V_gene YES ENSP00000374895 A0A597 UPI00001140E8 tolerated(0.71) benign(0) 2/2 0.9998 0.001 MODERATE 1 SNV PASS AGA . . 142482823 TIGD5 . GRCh38 chr8 143598586 143598586 + Missense_Mutation SNP A A C novel 7316-891 BS_CJFTT8ZC A A c.683A>C p.Glu228Ala p.E228A ENST00000504548 1/1 85 60 16 38 38 0 TIGD5,missense_variant,p.Glu228Ala,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; C ENSG00000179886 ENST00000504548 Transcript missense_variant 752/5390 683/1929 228/642 E/A gAg/gCg 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 tolerated(0.2) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45428 MODERATE SNV PASS GAG . . 143598586 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-891 BS_CJFTT8ZC T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 92 77 14 43 43 0 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 APBB1IP . GRCh38 chr10 26567252 26567252 + Missense_Mutation SNP T T G novel 7316-891 BS_CJFTT8ZC T T c.1765T>G p.Ser589Ala p.S589A ENST00000376236 15/15 70 59 8 22 22 0 APBB1IP,missense_variant,p.Ser589Ala,ENST00000376236,NM_019043.3;APBB1IP,downstream_gene_variant,,ENST00000493857,;,regulatory_region_variant,,ENSR00000025803,;,regulatory_region_variant,,ENSR00000025804,; G ENSG00000077420 ENST00000376236 Transcript missense_variant 2220/2771 1765/2001 589/666 S/A Tcg/Gcg 1 1 APBB1IP HGNC HGNC:17379 protein_coding YES CCDS31167.1 ENSP00000365411 Q7Z5R6 UPI00001AF165 NM_019043.3 tolerated_low_confidence(0.96) benign(0) 15/15 hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14,mobidb-lite MODERATE 1 SNV 5 PASS GTC . . 26567252 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-891 BS_CJFTT8ZC A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 70 46 14 42 39 1 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 AHNAK . GRCh38 chr11 62522261 62522261 + Missense_Mutation SNP A A T rs1295588648 7316-891 BS_CJFTT8ZC A A c.12156T>A p.His4052Gln p.H4052Q ENST00000378024 5/5 63 55 7 38 37 0 AHNAK,missense_variant,p.His4052Gln,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 12431/18787 12156/17673 4052/5890 H/Q caT/caA rs1295588648,COSM4411984,COSM4411983 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.35) benign(0.003) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CAT . . 62522261 TRIM64B . GRCh38 chr11 89875641 89875641 + Frame_Shift_Del DEL C C - rs756697949 7316-891 BS_CJFTT8ZC C C c.377del p.Ser126ThrfsTer3 p.S126Tfs*3 ENST00000329862 1/6 54 47 5 34 34 0 TRIM64B,frameshift_variant,p.Ser126ThrfsTer3,ENST00000329862,NM_001164397.1; - ENSG00000189253 ENST00000329862 Transcript frameshift_variant 377/2689 377/1350 126/449 S/X aGc/ac rs756697949,COSM4589992 1 -1 TRIM64B HGNC HGNC:37147 protein_coding YES CCDS53693.1 ENSP00000332969 A6NI03 UPI0001662600 NM_001164397.1 1/6 cd00021,Gene3D:3.30.40.10,SMART_domains:SM00336,Superfamily_domains:SSF57845,PROSITE_profiles:PS50119,hmmpanther:PTHR44030,hmmpanther:PTHR44030:SF9 0,1 HIGH 1 deletion 1 0,1 PASS GGCT . . 0.0001888 0.0009554 0.000257 0.0003277 8.388e-05 0.0009085 9.996e-05 89875640 FAM186A . GRCh38 chr12 50353368 50353368 + Missense_Mutation SNP G G A rs865838338 7316-891 BS_CJFTT8ZC G G c.3464C>T p.Pro1155Leu p.P1155L ENST00000327337 4/8 41 31 5 45 35 0 FAM186A,missense_variant,p.Pro1155Leu,ENST00000543111,;FAM186A,missense_variant,p.Pro1155Leu,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; A ENSG00000185958 ENST00000327337 Transcript missense_variant 3464/7127 3464/7056 1155/2351 P/L cCg/cTg rs865838338,COSM940344,COSM6332813 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.98) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CGG . . 1.622e-05 0.0001706 2.039e-05 50353368 CUX2 . GRCh38 chr12 111310388 111310388 + Missense_Mutation SNP G G A rs200889290 7316-891 BS_CJFTT8ZC G G c.1606G>A p.Ala536Thr p.A536T ENST00000261726 15/22 97 86 10 36 35 0 CUX2,missense_variant,p.Ala536Thr,ENST00000261726,NM_015267.3; A ENSG00000111249 ENST00000261726 Transcript missense_variant 1760/6844 1606/4461 536/1486 A/T Gcg/Acg rs200889290 1 1 CUX2 HGNC HGNC:19347 protein_coding YES CCDS41837.1 ENSP00000261726 O14529 UPI00001FBB07 NM_015267.3 tolerated(0.13) benign(0.015) 15/22 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14043:SF5,hmmpanther:PTHR14043,Superfamily_domains:SSF47413 0.0002 0.001 0.0002912 0.0003909 MODERATE 1 SNV 1 1 PASS CGC . . 0.0001802 0.000121 5.934e-05 0.0003487 0.0001916 111310388 AHNAK2 . GRCh38 chr14 104952357 104952357 + Missense_Mutation SNP G G C rs140208061 7316-891 BS_CJFTT8ZC G G c.3094C>G p.Leu1032Val p.L1032V ENST00000333244 7/7 92 78 9 50 50 0 AHNAK2,missense_variant,p.Leu1032Val,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; C ENSG00000185567 ENST00000333244 Transcript missense_variant 3214/18254 3094/17388 1032/5795 L/V Ctg/Gtg rs140208061,COSM2027235 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.0018 0.0023 0.0029 0.002 0.002 0.0002528 0.0001203 0,1 MODERATE 1 SNV 5 0,1 PASS AGG . . 0.001578 0.005235 0.001435 0.0007257 0.007007 0.0006358 0.0005832 0.001163 0.002322 104952357 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-891 BS_CJFTT8ZC A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 83 58 7 42 40 1 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 HERC1 . GRCh38 chr15 63664542 63664542 + Missense_Mutation SNP C C T novel 7316-891 BS_CJFTT8ZC C C c.8608G>A p.Ala2870Thr p.A2870T ENST00000443617 43/78 69 59 10 43 43 0 HERC1,missense_variant,p.Ala2870Thr,ENST00000443617,NM_003922.3; T ENSG00000103657 ENST00000443617 Transcript missense_variant 8696/15137 8608/14586 2870/4861 A/T Gct/Act 1 -1 HERC1 HGNC HGNC:4867 protein_coding YES CCDS45277.1 ENSP00000390158 Q15751 A0A024R5W0 UPI0000212760 NM_003922.3 tolerated(0.85) benign(0) 43/78 hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF188,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GCT . . 63664542 HMOX2 . GRCh38 chr16 4483743 4483743 + Splice_Region SNP G G C rs1359684911 7316-891 BS_CJFTT8ZC G G c.-42+5G>C ENST00000572812 81 72 8 48 47 0 HMOX2,splice_region_variant,,ENST00000572812,;HMOX2,5_prime_UTR_variant,,ENST00000458134,NM_001127204.1;HMOX2,5_prime_UTR_variant,,ENST00000570445,;HMOX2,intron_variant,,ENST00000219700,;HMOX2,intron_variant,,ENST00000406590,NM_001127206.2;HMOX2,intron_variant,,ENST00000570646,;HMOX2,intron_variant,,ENST00000574466,;HMOX2,intron_variant,,ENST00000575051,;HMOX2,intron_variant,,ENST00000575120,NM_001286271.1;HMOX2,intron_variant,,ENST00000576827,;HMOX2,intron_variant,,ENST00000619528,NM_001286269.1;HMOX2,intron_variant,,ENST00000619913,NM_001286268.1,NM_002134.3;HMOX2,non_coding_transcript_exon_variant,,ENST00000574594,;NMRAL1,intron_variant,,ENST00000572559,; C ENSG00000103415 ENST00000572812 Transcript splice_region_variant,intron_variant rs1359684911 1 1 HMOX2 HGNC HGNC:5014 protein_coding ENSP00000459445 I3L276 UPI00025A2F7E 2/4 LOW SNV 4 PASS GGT . . 4483743 C17orf97 . GRCh38 chr17 413771 413771 + Missense_Mutation SNP A A C 7316-891 BS_CJFTT8ZC A A c.928A>C p.Lys310Gln p.K310Q ENST00000360127 2/2 44 26 6 34 32 1 C17orf97,missense_variant,p.Lys310Gln,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC141424.1,intron_variant,,ENST00000466740,;AC141424.1,upstream_gene_variant,,ENST00000599026,;AC141424.1,upstream_gene_variant,,ENST00000629249,;C17orf97,upstream_gene_variant,,ENST00000629953,;C17orf97,upstream_gene_variant,,ENST00000575151,; C ENSG00000187624 ENST00000360127 Transcript missense_variant 944/1839 928/1272 310/423 K/Q Aag/Cag COSM4408087 1 1 C17orf97 HGNC HGNC:33800 protein_coding YES CCDS32519.2 ENSP00000353245 Q6ZQX7 A0A0H4IV28 UPI0001AE65CA NM_001013672.4 tolerated_low_confidence(0.61) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR36474 1 MODERATE 1 SNV 1 1 PASS CAA . . 413771 FBXL20 . GRCh38 chr17 39401401 39401401 + Translation_Start_Site SNP A A C novel 7316-891 BS_CJFTT8ZC A A c.2T>G p.Met1? p.M1? ENST00000264658 1/15 90 79 9 42 41 0 FBXL20,start_lost,p.Met1?,ENST00000264658,NM_032875.2;FBXL20,start_lost,p.Met1?,ENST00000394294,NM_001184906.1;FBXL20,start_lost,p.Met1?,ENST00000583610,;FBXL20,intron_variant,,ENST00000577399,;FBXL20,intron_variant,,ENST00000647139,;MED1,downstream_gene_variant,,ENST00000394287,;AC005288.1,upstream_gene_variant,,ENST00000582842,;,regulatory_region_variant,,ENSR00000093927,; C ENSG00000108306 ENST00000264658 Transcript start_lost 263/10388 2/1311 1/436 M/R aTg/aGg 1 -1 FBXL20 HGNC HGNC:24679 protein_coding YES CCDS32640.1 ENSP00000264658 Q96IG2 UPI000000D932 NM_032875.2 deleterious_low_confidence(0) benign(0) 1/15 hmmpanther:PTHR44001,hmmpanther:PTHR44001:SF3 HIGH 1 SNV 1 PASS CAT . . 39401401 LIMD2 . GRCh38 chr17 63699258 63699258 + Missense_Mutation SNP T T G rs200367312 7316-891 BS_CJFTT8ZC T T c.41A>C p.His14Pro p.H14P ENST00000259006 2/5 90 76 8 43 42 0 LIMD2,missense_variant,p.His14Pro,ENST00000259006,NM_030576.3;LIMD2,missense_variant,p.His14Pro,ENST00000578402,;LIMD2,missense_variant,p.His14Pro,ENST00000578061,;LIMD2,missense_variant,p.His14Pro,ENST00000578993,;LIMD2,missense_variant,p.His14Pro,ENST00000584645,;LIMD2,splice_region_variant,,ENST00000583211,;STRADA,downstream_gene_variant,,ENST00000245865,;STRADA,downstream_gene_variant,,ENST00000336174,NM_001003787.2;MAP3K3,downstream_gene_variant,,ENST00000361357,NM_203351.1;MAP3K3,downstream_gene_variant,,ENST00000361733,NM_002401.3;STRADA,downstream_gene_variant,,ENST00000375840,NM_001003788.2;STRADA,downstream_gene_variant,,ENST00000392950,NM_153335.5;STRADA,downstream_gene_variant,,ENST00000447001,NM_001165970.1;STRADA,downstream_gene_variant,,ENST00000579340,;MAP3K3,downstream_gene_variant,,ENST00000579585,;STRADA,downstream_gene_variant,,ENST00000582026,;LIMD2,upstream_gene_variant,,ENST00000582055,;STRADA,downstream_gene_variant,,ENST00000582137,NM_001165969.1;STRADA,downstream_gene_variant,,ENST00000638193,;STRADA,downstream_gene_variant,,ENST00000638276,;STRADA,downstream_gene_variant,,ENST00000638698,;STRADA,downstream_gene_variant,,ENST00000638702,;STRADA,downstream_gene_variant,,ENST00000638708,;STRADA,downstream_gene_variant,,ENST00000638888,;STRADA,downstream_gene_variant,,ENST00000639835,NM_001003786.2;STRADA,downstream_gene_variant,,ENST00000640086,;STRADA,downstream_gene_variant,,ENST00000640397,;STRADA,downstream_gene_variant,,ENST00000640679,;STRADA,downstream_gene_variant,,ENST00000640979,;STRADA,downstream_gene_variant,,ENST00000640999,;AC046185.3,upstream_gene_variant,,ENST00000623228,;LIMD2,splice_region_variant,,ENST00000578067,;LIMD2,splice_region_variant,,ENST00000579329,;LIMD2,splice_region_variant,,ENST00000580222,;LIMD2,splice_region_variant,,ENST00000579814,;LIMD2,non_coding_transcript_exon_variant,,ENST00000578297,;STRADA,intron_variant,,ENST00000640870,;STRADA,downstream_gene_variant,,ENST00000580039,;AC046185.1,downstream_gene_variant,,ENST00000580553,;STRADA,downstream_gene_variant,,ENST00000583085,;STRADA,downstream_gene_variant,,ENST00000639521,;STRADA,downstream_gene_variant,,ENST00000640827,;,regulatory_region_variant,,ENSR00000096833,; G ENSG00000136490 ENST00000259006 Transcript missense_variant,splice_region_variant 200/3193 41/384 14/127 H/P cAt/cCt rs200367312 1 -1 LIMD2 HGNC HGNC:28142 protein_coding YES CCDS11641.1 ENSP00000259006 Q9BT23 A0A140VJN0 UPI000006F81C NM_030576.3 tolerated(0.47) benign(0) 2/5 mobidb-lite,hmmpanther:PTHR24211:SF2,hmmpanther:PTHR24211 MODERATE 1 SNV 1 PASS ATG . . 8.404e-06 1.872e-05 63699258 TXNDC2 . GRCh38 chr18 9887710 9887710 + Missense_Mutation SNP A A C 7316-891 BS_CJFTT8ZC A A c.1231A>C p.Thr411Pro p.T411P ENST00000306084 2/2 73 54 7 39 39 0 TXNDC2,missense_variant,p.Thr344Pro,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Thr396Pro,ENST00000611534,;TXNDC2,missense_variant,p.Thr411Pro,ENST00000306084,NM_001098529.1;TXNDC2,3_prime_UTR_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; C ENSG00000168454 ENST00000306084 Transcript missense_variant 1430/1873 1231/1662 411/553 T/P Acc/Ccc COSM6991422,COSM6991421 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 deleterious(0.01) probably_damaging(0.993) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 1,1 MODERATE 1 SNV 1 1,1 PASS AAC . . 9887710 MUC16 . GRCh38 chr19 8973205 8973205 + Missense_Mutation SNP G G A rs373838308 7316-891 BS_CJFTT8ZC G G c.7934C>T p.Pro2645Leu p.P2645L ENST00000397910 1/84 73 58 15 41 40 0 MUC16,missense_variant,p.Pro2645Leu,ENST00000397910,NM_024690.2; A ENSG00000181143 ENST00000397910 Transcript missense_variant 8138/43816 7934/43524 2645/14507 P/L cCg/cTg rs373838308 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0.092) 1/84 hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 0.0002559 MODERATE 1 SNV 5 1 PASS CGG . . 2.039e-05 0.0003275 8973205 ZNF43 . GRCh38 chr19 21808226 21808226 + Missense_Mutation SNP G G T rs1451935481 7316-891 BS_CJFTT8ZC G G c.1838C>A p.Thr613Asn p.T613N ENST00000357491 4/4 75 54 13 40 38 0 ZNF43,missense_variant,p.Thr598Asn,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Thr613Asn,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Thr598Asn,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Thr598Asn,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Thr604Asn,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 1972/5249 1838/2457 613/818 T/N aCc/aAc rs1451935481 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(0.75) benign(0.306) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GGT . . 21808226 CEBPA . GRCh38 chr19 33302123 33302123 + Missense_Mutation SNP T T G novel 7316-891 BS_CJFTT8ZC T T c.292A>C p.Thr98Pro p.T98P ENST00000498907 1/1 63 50 9 43 41 0 CEBPA,missense_variant,p.Thr98Pro,ENST00000498907,NM_001287435.1,NM_004364.4,NM_001285829.1,NM_001287424.1;AC008738.2,upstream_gene_variant,,ENST00000593041,;AC008738.5,downstream_gene_variant,,ENST00000587312,;AC008738.3,downstream_gene_variant,,ENST00000589932,;CEBPA-DT,upstream_gene_variant,,ENST00000592982,;,regulatory_region_variant,,ENSR00000108807,; G ENSG00000245848 ENST00000498907 Transcript missense_variant 442/2631 292/1077 98/358 T/P Acg/Ccg 1 -1 CEBPA HGNC HGNC:1833 protein_coding YES CCDS54243.1 ENSP00000427514 P49715 UPI0000167F92 NM_001287435.1,NM_004364.4,NM_001285829.1,NM_001287424.1 tolerated_low_confidence(0.27) benign(0.007) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23334:SF5,hmmpanther:PTHR23334,PIRSF_domain:PIRSF005879 MODERATE SNV 1 PASS GTG . . 33302123 FFAR3 . GRCh38 chr19 35359809 35359809 + Missense_Mutation SNP A A G rs150331058 7316-891 BS_CJFTT8ZC A A c.919A>G p.Met307Val p.M307V ENST00000327809 2/2 57 44 11 36 35 0 FFAR3,missense_variant,p.Met307Val,ENST00000327809,NM_005304.3;FFAR3,missense_variant,p.Met307Val,ENST00000594310,; G ENSG00000185897 ENST00000327809 Transcript missense_variant 1120/1796 919/1041 307/346 M/V Atg/Gtg rs150331058,COSM4412932 1 1 FFAR3 HGNC HGNC:4499 protein_coding YES CCDS12459.1 ENSP00000328230 O14843 A0A0K0PUW7 UPI0000001C3F NM_005304.3 tolerated(1) benign(0) 2/2 Gene3D:1.20.1070.10,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF40,Superfamily_domains:SSF81321,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 0.03153 0.1201 0.01233 0.02956 0.001493 0.04633 0.03423 0.02366 0.01365 35359809 SBSN . GRCh38 chr19 35527653 35527653 + Missense_Mutation SNP G G A rs80282835 7316-891 BS_CJFTT8ZC G G c.629C>T p.Ala210Val p.A210V ENST00000452271 1/4 73 54 6 47 42 1 SBSN,missense_variant,p.Ala210Val,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; A ENSG00000189001 ENST00000452271 Transcript missense_variant 658/1945 629/1773 210/590 A/V gCc/gTc rs80282835,COSM6290357 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 tolerated(0.89) benign(0.006) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS GGC . . 4.771e-05 0.000304 4.075e-05 0.0001071 35527653 LMTK3 . GRCh38 chr19 48499330 48499330 + Missense_Mutation SNP A A C novel 7316-891 BS_CJFTT8ZC A A c.1826T>G p.Val609Gly p.V609G ENST00000270238 12/16 82 61 13 40 35 1 LMTK3,missense_variant,p.Val580Gly,ENST00000600059,;LMTK3,missense_variant,p.Val609Gly,ENST00000270238,NM_001080434.1; C ENSG00000142235 ENST00000270238 Transcript missense_variant 1826/4972 1826/4470 609/1489 V/G gTg/gGg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) possibly_damaging(0.451) 12/16 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48499330 ZNF586 . GRCh38 chr19 57779331 57779331 + Missense_Mutation SNP T T A 7316-891 BS_CJFTT8ZC T T c.744T>A p.Ser248Arg p.S248R ENST00000396154 3/3 54 41 7 41 37 0 ZNF586,missense_variant,p.Ser205Arg,ENST00000391702,NM_001204814.1;ZNF586,missense_variant,p.Ser248Arg,ENST00000396154,NM_017652.3;ZNF586,missense_variant,p.Val206Asp,ENST00000396150,NM_001077426.2;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000598885,;ZNF586,intron_variant,,ENST00000599802,; A ENSG00000083828 ENST00000396154 Transcript missense_variant 917/2163 744/1209 248/402 S/R agT/agA COSM1002474 1 1 ZNF586 HGNC HGNC:25949 protein_coding YES CCDS42640.1 ENSP00000379458 Q9NXT0 UPI0000202D48 NM_017652.3 tolerated(0.05) benign(0.161) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF708,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS GTC . . 57779331 KRTAP10-1 . GRCh38 chr21 44539641 44539641 + Missense_Mutation SNP A A C rs782562472 7316-891 BS_CJFTT8ZC A A c.510T>G p.His170Gln p.H170Q ENST00000400375 1/1 95 84 9 54 51 0 KRTAP10-1,missense_variant,p.His170Gln,ENST00000400375,NM_198691.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000397916,;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000215455 ENST00000400375 Transcript missense_variant 555/1215 510/849 170/282 H/Q caT/caG rs782562472,COSM4391828 1 -1 KRTAP10-1 HGNC HGNC:22966 protein_coding YES CCDS42954.1 ENSP00000383226 P60331 UPI00003D4D6C NM_198691.2 tolerated(1) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF125,hmmpanther:PTHR23262 0,1 MODERATE SNV 0,1 PASS GAT . . 1.225e-05 1.793e-05 3.26e-05 44539641 CHM . GRCh38 chrX 85981816 85981816 + Splice_Region SNP C C A rs768809085 7316-891 BS_CJFTT8ZC C C c.117-7G>T ENST00000357749 60 52 7 33 33 0 CHM,splice_region_variant,,ENST00000357749,NM_000390.3,NM_001320959.1;CHM,splice_region_variant,,ENST00000615443,NM_001145414.3;CHM,intron_variant,,ENST00000467744,;CHM,upstream_gene_variant,,ENST00000487515,; A ENSG00000188419 ENST00000357749 Transcript splice_region_variant,intron_variant rs768809085 1 -1 CHM HGNC HGNC:1940 protein_coding YES CCDS14454.1 ENSP00000350386 P24386 UPI0000049C8C NM_000390.3,NM_001320959.1 2/14 uncertain_significance LOW 1 SNV 1 1 PASS ACA . . 0.0002008 0.0002225 0.0003193 0.0003822 85981816 TEX13D . GRCh38 chrX 124334806 124334806 + Missense_Mutation SNP G G A rs1023730611 7316-891 BS_CJFTT8ZC G G c.1889G>A p.Gly630Asp p.G630D ENST00000632372 1/1 90 77 6 38 38 0 TEX13D,missense_variant,p.Gly630Asp,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; A ENSG00000282419 ENST00000632372 Transcript missense_variant 2147/4203 1889/2145 630/714 G/D gGc/gAc rs1023730611,COSM5956512 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.52) benign(0.035) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite 0,1 MODERATE 1 SNV 0,1 PASS GGC . . 124334806 MAGEC1 . GRCh38 chrX 141907371 141907371 + Missense_Mutation SNP T T A novel 7316-891 BS_CJFTT8ZC T T c.1967T>A p.Val656Asp p.V656D ENST00000285879 4/4 70 59 5 34 33 0 MAGEC1,missense_variant,p.Val656Asp,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; A ENSG00000155495 ENST00000285879 Transcript missense_variant 2253/4270 1967/3429 656/1142 V/D gTc/gAc 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(0.18) benign(0.028) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTC . . 141907371 FAM213B . GRCh38 chr1 2586842 2586842 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.47A>C p.Asn16Thr p.N16T ENST00000444521 1/7 58 44 12 30 29 0 FAM213B,missense_variant,p.Asn16Thr,ENST00000444521,NM_001195736.1;FAM213B,missense_variant,p.Asn16Thr,ENST00000378424,;FAM213B,missense_variant,p.Asn16Thr,ENST00000419916,NM_152371.3,NM_001195737.1;FAM213B,missense_variant,p.Asn16Thr,ENST00000378427,NM_001195738.1;FAM213B,missense_variant,p.Asn16Thr,ENST00000378425,NM_001195740.1;FAM213B,missense_variant,p.Asn16Thr,ENST00000537325,NM_001195741.1;FAM213B,missense_variant,p.Asn4Thr,ENST00000465233,;MMEL1,downstream_gene_variant,,ENST00000378412,NM_033467.3;MMEL1,downstream_gene_variant,,ENST00000471840,;FAM213B,upstream_gene_variant,,ENST00000498083,;MMEL1,downstream_gene_variant,,ENST00000502556,;AL139246.3,downstream_gene_variant,,ENST00000424215,;FAM213B,non_coding_transcript_exon_variant,,ENST00000464043,;FAM213B,intron_variant,,ENST00000474659,;FAM213B,intron_variant,,ENST00000493183,;FAM213B,upstream_gene_variant,,ENST00000481683,;FAM213B,upstream_gene_variant,,ENST00000484099,;MMEL1,downstream_gene_variant,,ENST00000464195,;FAM213B,upstream_gene_variant,,ENST00000476686,;FAM213B,upstream_gene_variant,,ENST00000477045,;MMEL1,downstream_gene_variant,,ENST00000491941,;MMEL1,downstream_gene_variant,,ENST00000504800,;,regulatory_region_variant,,ENSR00000000372,; C ENSG00000157870 ENST00000444521 Transcript missense_variant 93/2827 47/741 16/246 N/T aAc/aCc 1 1 FAM213B HGNC HGNC:28390 protein_coding YES CCDS72690.1 ENSP00000413218 A0A0A0MT35 UPI0001E306A5 NM_001195736.1 tolerated_low_confidence(0.45) benign(0.111) 1/7 mobidb-lite MODERATE 1 SNV 2 PASS AAC . . 2586842 HMGN2 . GRCh38 chr1 26472625 26472625 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.13A>C p.Lys5Gln p.K5Q ENST00000361427 1/6 32 25 6 40 39 0 HMGN2,missense_variant,p.Lys5Gln,ENST00000361427,NM_005517.3;HMGN2,missense_variant,p.Lys5Gln,ENST00000619352,;DHDDS,downstream_gene_variant,,ENST00000236342,NM_001319959.1,NM_205861.2;DHDDS,downstream_gene_variant,,ENST00000360009,NM_024887.3;DHDDS,downstream_gene_variant,,ENST00000431933,;DHDDS,downstream_gene_variant,,ENST00000525682,NM_001243564.1;DHDDS,downstream_gene_variant,,ENST00000526219,NM_001243565.1;HMGN2,splice_region_variant,,ENST00000460563,;HMGN2,splice_region_variant,,ENST00000479815,;HMGN2,splice_region_variant,,ENST00000467700,;HMGN2,splice_region_variant,,ENST00000463817,;HMGN2,splice_region_variant,,ENST00000464888,;HMGN2,splice_region_variant,,ENST00000468388,;HMGN2,upstream_gene_variant,,ENST00000466194,;HMGN2,upstream_gene_variant,,ENST00000493418,;DHDDS,downstream_gene_variant,,ENST00000434391,;,regulatory_region_variant,,ENSR00000003559,; C ENSG00000198830 ENST00000361427 Transcript missense_variant,splice_region_variant 107/1191 13/273 5/90 K/Q Aag/Cag 1 1 HMGN2 HGNC HGNC:4986 protein_coding YES CCDS283.1 ENSP00000355228 P05204 UPI000013EBD7 NM_005517.3 deleterious(0.03) possibly_damaging(0.728) 1/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23087:SF18,hmmpanther:PTHR23087,Pfam_domain:PF01101,SMART_domains:SM00527 MODERATE 1 SNV 1 PASS AAA . . 26472625 FOXO6 . GRCh38 chr1 41382499 41382499 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.1297T>G p.Phe433Val p.F433V ENST00000641094 3/3 39 30 9 35 33 1 FOXO6,missense_variant,p.Phe433Val,ENST00000641094,NM_001291281.2;FOXO6,non_coding_transcript_exon_variant,,ENST00000372591,;,regulatory_region_variant,,ENSR00000005332,; G ENSG00000204060 ENST00000641094 Transcript missense_variant 1297/1476 1297/1476 433/492 F/V Ttc/Gtc 1 1 FOXO6 HGNC HGNC:24814 protein_coding YES ENSP00000493184 A8MYZ6 UPI00015E0BB0 NM_001291281.2 deleterious(0.02) unknown(0) 3/3 Pfam_domain:PF16676,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF205 MODERATE 1 SNV PASS CTT . . 41382499 ZNF644 . GRCh38 chr1 90940830 90940830 + Frame_Shift_Del DEL A A - novel 7316-329 BS_4RV40GPD A A c.524del p.Leu175TyrfsTer7 p.L175Yfs*7 ENST00000337393 3/6 57 45 7 47 44 0 ZNF644,frameshift_variant,p.Leu175TyrfsTer7,ENST00000337393,NM_201269.2;ZNF644,frameshift_variant,p.Leu175TyrfsTer7,ENST00000370440,;ZNF644,intron_variant,,ENST00000347275,NM_016620.3;ZNF644,intron_variant,,ENST00000361321,NM_032186.4;ZNF644,upstream_gene_variant,,ENST00000621077,;ZNF644,intron_variant,,ENST00000467231,;ZNF644,downstream_gene_variant,,ENST00000498303,; - ENSG00000122482 ENST00000337393 Transcript frameshift_variant 807/5763 524/3984 175/1327 L/X tTa/ta 1 -1 ZNF644 HGNC HGNC:29222 protein_coding YES CCDS731.1 ENSP00000337008 Q9H582 UPI000004A010 NM_201269.2 3/6 hmmpanther:PTHR44951 HIGH 1 deletion 1 1 PASS ATAA . . 90940829 WDR77 . GRCh38 chr1 111449144 111449144 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.26T>G p.Leu9Arg p.L9R ENST00000235090 1/10 34 16 13 26 23 0 WDR77,missense_variant,p.Leu9Arg,ENST00000235090,NM_024102.3,NM_001317064.1,NM_001317062.1,NM_001317063.1;ATP5PB,5_prime_UTR_variant,,ENST00000369722,NM_001688.4;WDR77,upstream_gene_variant,,ENST00000449340,;ATP5PB,upstream_gene_variant,,ENST00000483994,;RF00019,downstream_gene_variant,,ENST00000363020,;ATP5PB,intron_variant,,ENST00000493119,;ATP5PB,upstream_gene_variant,,ENST00000369721,;WDR77,upstream_gene_variant,,ENST00000459665,;ATP5PB,upstream_gene_variant,,ENST00000464154,;ATP5PB,upstream_gene_variant,,ENST00000468818,;WDR77,upstream_gene_variant,,ENST00000497278,;,regulatory_region_variant,,ENSR00000011365,; C ENSG00000116455 ENST00000235090 Transcript missense_variant 233/2576 26/1029 9/342 L/R cTa/cGa 1 -1 WDR77 HGNC HGNC:29652 protein_coding YES CCDS835.1 ENSP00000235090 Q9BQA1 A0A024R0H7 UPI0000047AC6 NM_024102.3,NM_001317064.1,NM_001317062.1,NM_001317063.1 tolerated_low_confidence(0.87) benign(0.01) 1/10 hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF122 MODERATE 1 SNV 1 PASS TAG . . 111449144 TCHH . GRCh38 chr1 152108781 152108781 + Missense_Mutation SNP T T A novel 7316-329 BS_4RV40GPD T T c.4436A>T p.His1479Leu p.H1479L ENST00000614923 3/3 39 26 5 25 24 0 TCHH,missense_variant,p.His1479Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.His1479Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 4531/6995 4436/5832 1479/1943 H/L cAc/cTc 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.12) benign(0.006) 3/3 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS GTG . . 152108781 FLG2 . GRCh38 chr1 152353023 152353023 + Missense_Mutation SNP C C A novel 7316-329 BS_4RV40GPD C C c.4763G>T p.Gly1588Val p.G1588V ENST00000388718 3/3 66 51 12 35 33 1 FLG2,missense_variant,p.Gly1588Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 4836/9124 4763/7176 1588/2391 G/V gGc/gTc 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.58) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS GCC . . 152353023 MUC1 . GRCh38 chr1 155192008 155192008 + Missense_Mutation SNP T T C rs1331247460 7316-329 BS_4RV40GPD T T c.361A>G p.Thr121Ala p.T121A ENST00000612778 2/8 62 42 7 26 25 0 MUC1,missense_variant,p.Thr112Ala,ENST00000611571,;MUC1,missense_variant,p.Thr121Ala,ENST00000612778,NM_001204286.1;MUC1,missense_variant,p.Thr112Ala,ENST00000620103,NM_001204285.1;MUC1,missense_variant,p.Thr109Ala,ENST00000611577,;MUC1,intron_variant,,ENST00000337604,NM_001204287.1,NM_002456.5;MUC1,intron_variant,,ENST00000338684,NM_001204291.1,NM_001204289.1;MUC1,intron_variant,,ENST00000342482,;MUC1,intron_variant,,ENST00000343256,NM_001204296.1,NM_001044390.2;MUC1,intron_variant,,ENST00000368389,NM_001204297.1;MUC1,intron_variant,,ENST00000368390,NM_001018017.2;MUC1,intron_variant,,ENST00000368392,NM_001204288.1,NM_001018016.2;MUC1,intron_variant,,ENST00000368393,NM_001204293.1;MUC1,intron_variant,,ENST00000368396,NM_001044391.2,NM_001044392.2;MUC1,intron_variant,,ENST00000368398,NM_001204294.1;MUC1,intron_variant,,ENST00000438413,NM_001204290.1;MUC1,intron_variant,,ENST00000457295,;MUC1,intron_variant,,ENST00000462215,;MUC1,intron_variant,,ENST00000471283,NM_001044393.2;MUC1,intron_variant,,ENST00000610359,NM_001204292.1;MUC1,intron_variant,,ENST00000614519,;MUC1,intron_variant,,ENST00000615517,NM_001204295.1;THBS3,downstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,downstream_gene_variant,,ENST00000457183,NM_001252608.1;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000485118,;THBS3,downstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,downstream_gene_variant,,ENST00000541990,;MIR92B,upstream_gene_variant,,ENST00000607575,;AC234582.1,upstream_gene_variant,,ENST00000447623,;MUC1,downstream_gene_variant,,ENST00000466913,;MUC1,non_coding_transcript_exon_variant,,ENST00000620770,;MUC1,intron_variant,,ENST00000467134,;MUC1,intron_variant,,ENST00000498431,;MUC1,intron_variant,,ENST00000610468,;MUC1,upstream_gene_variant,,ENST00000468978,;THBS3,downstream_gene_variant,,ENST00000469769,;AL713999.1,upstream_gene_variant,,ENST00000473363,;THBS3,downstream_gene_variant,,ENST00000498500,;,regulatory_region_variant,,ENSR00000014040,; C ENSG00000185499 ENST00000612778 Transcript missense_variant 433/1836 361/1455 121/484 T/A Acc/Gcc rs1331247460 1 -1 MUC1 HGNC HGNC:7508 protein_coding YES CCDS72933.1 ENSP00000484824 A0A087X2A4 UPI000059C524 NM_001204286.1 tolerated(0.39) benign(0.006) 2/8 hmmpanther:PTHR10006,mobidb-lite MODERATE SNV 5 1 PASS GTG . . 155192008 MEF2D . GRCh38 chr1 156468172 156468172 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.1375T>G p.Phe459Val p.F459V ENST00000348159 11/12 44 32 11 34 33 0 MEF2D,missense_variant,p.Phe459Val,ENST00000348159,NM_005920.3;MEF2D,missense_variant,p.Phe451Val,ENST00000464356,;MEF2D,missense_variant,p.Phe452Val,ENST00000360595,NM_001271629.1;MEF2D,3_prime_UTR_variant,,ENST00000368240,;MEF2D,3_prime_UTR_variant,,ENST00000475587,; C ENSG00000116604 ENST00000348159 Transcript missense_variant 1856/5965 1375/1566 459/521 F/V Ttc/Gtc 1 -1 MEF2D HGNC HGNC:6997 protein_coding YES CCDS1143.1 ENSP00000271555 Q14814 UPI000012EEB6 NM_005920.3 tolerated(0.48) benign(0.084) 11/12 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:2.60.200.20 MODERATE 1 SNV 1 PASS AAC . . 156468172 ELK4 . GRCh38 chr1 205620378 205620379 + Frame_Shift_Ins INS - - G novel 7316-329 BS_4RV40GPD - - c.667dup p.Gln223ProfsTer22 p.Q223Pfs*22 ENST00000357992 3/5 72 49 20 28 27 0 ELK4,frameshift_variant,p.Gln223ProfsTer22,ENST00000357992,NM_001973.3;ELK4,frameshift_variant,p.Gln223ProfsTer22,ENST00000289703,NM_021795.2;ELK4,downstream_gene_variant,,ENST00000468523,;ELK4,frameshift_variant,p.Gln223ProfsTer22,ENST00000616704,; G ENSG00000158711 ENST00000357992 Transcript frameshift_variant 1007-1008/10239 667-668/1296 223/431 Q/PX caa/cCaa 1 -1 ELK4 HGNC HGNC:3326 protein_coding YES CCDS1456.1 ENSP00000350681 P28324 A0A024R9C2 UPI0000129E67 NM_001973.3 3/5 hmmpanther:PTHR11849:SF21,hmmpanther:PTHR11849 HIGH 1 insertion 1 1 PASS TTG . . 205620378 MIR29B2CHG . GRCh38 chr1 207869025 207869025 + Splice_Region SNP T T G rs937926787 7316-329 BS_4RV40GPD T T n.123+3A>C ENST00000608023 60 50 7 41 41 0 MIR29B2CHG,splice_region_variant,,ENST00000608023,;MIR29B2CHG,intron_variant,,ENST00000637970,;MIR29B2CHG,downstream_gene_variant,,ENST00000435542,;,regulatory_region_variant,,ENSR00000019208,; G ENSG00000203709 ENST00000608023 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs937926787 1 -1 MIR29B2CHG HGNC HGNC:32018 lincRNA YES 1/4 LOW 1 SNV 5 PASS TTA . . 207869025 SLC30A1 . GRCh38 chr1 211578611 211578611 + Translation_Start_Site SNP A A C novel 7316-329 BS_4RV40GPD A A c.2T>G p.Met1? p.M1? ENST00000367001 1/2 68 53 11 33 33 0 SLC30A1,start_lost,p.Met1?,ENST00000367001,NM_021194.2;AC105275.2,downstream_gene_variant,,ENST00000567907,;,regulatory_region_variant,,ENSR00000019571,; C ENSG00000170385 ENST00000367001 Transcript start_lost 132/5474 2/1524 1/507 M/R aTg/aGg 1 -1 SLC30A1 HGNC HGNC:11012 protein_coding YES CCDS1499.1 ENSP00000355968 Q9Y6M5 UPI000013EBA0 NM_021194.2 deleterious(0) benign(0.206) 1/2 hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562 HIGH 1 SNV 1 PASS CAT . . 211578611 FAM110C . GRCh38 chr2 46351 46351 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.35A>C p.Asn12Thr p.N12T ENST00000327669 1/2 56 47 7 42 41 0 FAM110C,missense_variant,p.Asn12Thr,ENST00000327669,NM_001077710.2;FAM110C,intron_variant,,ENST00000461026,;FAM110C,upstream_gene_variant,,ENST00000460464,;,regulatory_region_variant,,ENSR00000111905,; G ENSG00000184731 ENST00000327669 Transcript missense_variant 35/3760 35/966 12/321 N/T aAc/aCc 1 -1 FAM110C HGNC HGNC:33340 protein_coding YES CCDS42645.1 ENSP00000328347 Q1W6H9 UPI0000579458 NM_001077710.2 tolerated(1) benign(0) 1/2 mobidb-lite,hmmpanther:PTHR14758,hmmpanther:PTHR14758:SF5 MODERATE 1 SNV 1 PASS GTT . . 46351 ITPRIPL1 . GRCh38 chr2 96327055 96327057 + In_Frame_Del DEL GAG GAG - rs749880210 7316-329 BS_4RV40GPD GAG GAG c.462_464del p.Glu155del p.E155del ENST00000361124 1/1 70 59 5 40 35 0 ITPRIPL1,inframe_deletion,p.Glu155del,ENST00000361124,NM_178495.5;ITPRIPL1,inframe_deletion,p.Glu139del,ENST00000536814,NM_001163524.1,NM_001163523.1;ITPRIPL1,inframe_deletion,p.Glu147del,ENST00000439118,NM_001008949.2;ITPRIPL1,inframe_deletion,p.Glu179del,ENST00000420728,;ITPRIPL1,inframe_deletion,p.Glu139del,ENST00000420176,; - ENSG00000198885 ENST00000361124 Transcript inframe_deletion 833-835/4295 448-450/1692 150/563 E/- GAG/- rs749880210,COSM4693631,COSM4693630 1 1 ITPRIPL1 HGNC HGNC:29371 protein_coding YES CCDS33250.1 ENSP00000355121 Q6GPH6 UPI0000207C75 NM_178495.5 1/1 hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF40,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 deletion 14 0,1,1 PASS GTGAGG . . 0.0001062 6.312e-05 4.628e-05 0.0001869 6.843e-05 96327054 PTPN18 . GRCh38 chr2 130372304 130372304 + Missense_Mutation SNP A A C rs1260213703 7316-329 BS_4RV40GPD A A c.1061A>C p.Tyr354Ser p.Y354S ENST00000175756 13/15 58 42 8 39 36 1 PTPN18,missense_variant,p.Tyr354Ser,ENST00000175756,NM_014369.3;PTPN18,missense_variant,p.Tyr247Ser,ENST00000347849,NM_001142370.1;PTPN18,missense_variant,p.Tyr159Ser,ENST00000409022,;PTPN18,non_coding_transcript_exon_variant,,ENST00000481492,;PTPN18,non_coding_transcript_exon_variant,,ENST00000490812,;PTPN18,non_coding_transcript_exon_variant,,ENST00000462996,;PTPN18,downstream_gene_variant,,ENST00000428843,;PTPN18,upstream_gene_variant,,ENST00000462321,;PTPN18,downstream_gene_variant,,ENST00000464576,;PTPN18,downstream_gene_variant,,ENST00000483617,;PTPN18,downstream_gene_variant,,ENST00000489215,;PTPN18,downstream_gene_variant,,ENST00000490137,;PTPN18,downstream_gene_variant,,ENST00000495400,;,regulatory_region_variant,,ENSR00000123087,; C ENSG00000072135 ENST00000175756 Transcript missense_variant 1162/3669 1061/1383 354/460 Y/S tAc/tCc rs1260213703 1 1 PTPN18 HGNC HGNC:9649 protein_coding YES CCDS2161.1 ENSP00000175756 Q99952 UPI000013C5D0 NM_014369.3 deleterious(0.05) possibly_damaging(0.797) 13/15 hmmpanther:PTHR19134:SF286,hmmpanther:PTHR19134 MODERATE 1 SNV 1 PASS TAC . . 130372304 HNRNPA3 . GRCh38 chr2 177212875 177212875 + Splice_Region SNP T T G novel 7316-329 BS_4RV40GPD T T c.72+4T>G ENST00000392524 72 51 11 41 39 1 HNRNPA3,splice_region_variant,,ENST00000392524,NM_194247.2;HNRNPA3,splice_region_variant,,ENST00000435711,;HNRNPA3,intron_variant,,ENST00000411529,NM_001330247.1;HNRNPA3,upstream_gene_variant,,ENST00000432457,;MIR4444-1,downstream_gene_variant,,ENST00000581696,;AC079305.3,upstream_gene_variant,,ENST00000455416,;,regulatory_region_variant,,ENSR00000126852,; G ENSG00000170144 ENST00000392524 Transcript splice_region_variant,intron_variant 1 1 HNRNPA3 HGNC HGNC:24941 protein_coding YES CCDS2273.1 ENSP00000376309 P51991 UPI00001BE8DE NM_194247.2 1/10 LOW 1 SNV 5 PASS ATT . . 177212875 RETREG2 . GRCh38 chr2 219178353 219178353 + Translation_Start_Site SNP A A C novel 7316-329 BS_4RV40GPD A A c.1A>C p.Met1? p.M1? ENST00000430297 1/9 45 26 12 29 28 0 RETREG2,start_lost,p.Met1?,ENST00000430297,NM_024293.5;RETREG2,intron_variant,,ENST00000443757,;RETREG2,intron_variant,,ENST00000458520,NM_001321110.1,NM_001321109.1;CNPPD1,upstream_gene_variant,,ENST00000360507,NM_001321390.1,NM_015680.5,NM_001321391.1;CNPPD1,upstream_gene_variant,,ENST00000409789,NM_001321389.1;RETREG2,upstream_gene_variant,,ENST00000420189,;RETREG2,upstream_gene_variant,,ENST00000430747,;CNPPD1,upstream_gene_variant,,ENST00000451647,;RETREG2,upstream_gene_variant,,ENST00000452022,;CNPPD1,upstream_gene_variant,,ENST00000453038,;RETREG2,start_lost,p.Met1?,ENST00000273048,;RETREG2,start_lost,p.Met1?,ENST00000452293,;RETREG2,upstream_gene_variant,,ENST00000465672,;RETREG2,upstream_gene_variant,,ENST00000481925,;,regulatory_region_variant,,ENSR00000130512,; C ENSG00000144567 ENST00000430297 Transcript start_lost 137/4618 1/1632 1/543 M/L Atg/Ctg 1 1 RETREG2 HGNC HGNC:28450 protein_coding YES CCDS2434.1 ENSP00000395249 Q8NC44 UPI000013D996 NM_024293.5 deleterious_low_confidence(0) benign(0.088) 1/9 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS TAT . . 219178353 RFTN1 . GRCh38 chr3 16513444 16513444 + Splice_Region SNP T T G novel 7316-329 BS_4RV40GPD T T c.-11A>C ENST00000334133 1/10 67 51 14 26 25 0 RFTN1,splice_region_variant,,ENST00000334133,NM_015150.1;RFTN1,intron_variant,,ENST00000431547,;RFTN1,upstream_gene_variant,,ENST00000441460,;RFTN1,upstream_gene_variant,,ENST00000449415,;RFTN1,upstream_gene_variant,,ENST00000451036,;RFTN1,splice_region_variant,,ENST00000453536,;,regulatory_region_variant,,ENSR00000149264,; G ENSG00000131378 ENST00000334133 Transcript splice_region_variant,5_prime_UTR_variant 263/2982 1 -1 RFTN1 HGNC HGNC:30278 protein_coding YES CCDS33712.1 ENSP00000334153 Q14699 UPI00001C1DE7 NM_015150.1 1/10 LOW 1 SNV 1 PASS GTA . . 16513444 PFKFB4 . GRCh38 chr3 48536302 48536302 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.794A>C p.Lys265Thr p.K265T ENST00000232375 8/14 67 53 10 25 25 0 PFKFB4,missense_variant,p.Lys265Thr,ENST00000232375,NM_001317136.1,NM_001317134.1,NM_001317138.1,NM_004567.3;PFKFB4,missense_variant,p.Lys265Thr,ENST00000416568,NM_001317135.1;PFKFB4,missense_variant,p.Lys265Thr,ENST00000383734,NM_001317137.1;PFKFB4,missense_variant,p.Lys254Thr,ENST00000452531,;PFKFB4,downstream_gene_variant,,ENST00000412035,;PFKFB4,non_coding_transcript_exon_variant,,ENST00000490115,;PFKFB4,downstream_gene_variant,,ENST00000468162,;PFKFB4,downstream_gene_variant,,ENST00000496767,;PFKFB4,3_prime_UTR_variant,,ENST00000417753,;PFKFB4,3_prime_UTR_variant,,ENST00000445633,;PFKFB4,downstream_gene_variant,,ENST00000471890,; G ENSG00000114268 ENST00000232375 Transcript missense_variant 907/3586 794/1410 265/469 K/T aAg/aCg 1 -1 PFKFB4 HGNC HGNC:8875 protein_coding YES CCDS2771.1 ENSP00000232375 Q16877 UPI0000000DCB NM_001317136.1,NM_001317134.1,NM_001317138.1,NM_004567.3 benign(0.093) 8/14 cd07067,hmmpanther:PTHR10606:SF14,hmmpanther:PTHR10606,PIRSF_domain:PIRSF000709,Gene3D:3.40.50.1240,Pfam_domain:PF00300,SMART_domains:SM00855,Superfamily_domains:SSF53254,Prints_domain:PR00991 MODERATE 1 SNV 1 PASS CTT . . 48536302 ATXN7 . GRCh38 chr3 63912821 63912821 + Missense_Mutation SNP A A C 7316-329 BS_4RV40GPD A A c.223A>C p.Met75Leu p.M75L ENST00000295900 3/13 44 33 9 32 31 0 ATXN7,missense_variant,p.Met75Leu,ENST00000295900,NM_000333.3;ATXN7,missense_variant,p.Met75Leu,ENST00000538065,NM_001177387.1;ATXN7,missense_variant,p.Met75Leu,ENST00000487717,;ATXN7,missense_variant,p.Met75Leu,ENST00000474112,;ATXN7,missense_variant,p.Met75Leu,ENST00000522345,;ATXN7,downstream_gene_variant,,ENST00000474513,;SCAANT1,upstream_gene_variant,,ENST00000626439,;,regulatory_region_variant,,ENSR00000153622,; C ENSG00000285258 ENST00000295900 Transcript missense_variant 773/7224 223/2679 75/892 M/L Atg/Ctg COSM4913948,COSM4913947 1 1 ATXN7 HGNC HGNC:10560 protein_coding YES CCDS43102.1 ENSP00000295900 O15265 UPI0000126640 NM_000333.3 tolerated(0.08) possibly_damaging(0.892) 3/13 Gene3D:1.10.565.10,hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF2,Low_complexity_(Seg):seg 1,1 MODERATE SNV 1 1,1 1 PASS AAT . . 63912821 PRDM8 . GRCh38 chr4 80202651 80202651 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.1189A>C p.Ser397Arg p.S397R ENST00000339711 10/10 46 36 7 35 34 1 PRDM8,missense_variant,p.Ser397Arg,ENST00000339711,NM_020226.3;PRDM8,missense_variant,p.Ser397Arg,ENST00000504452,;PRDM8,missense_variant,p.Ser397Arg,ENST00000415738,NM_001099403.1;PRDM8,missense_variant,p.Ser397Arg,ENST00000515013,;,regulatory_region_variant,,ENSR00000169856,;,TF_binding_site_variant,,MA0139.1,; C ENSG00000152784 ENST00000339711 Transcript missense_variant 2420/4095 1189/2070 397/689 S/R Agc/Cgc 1 1 PRDM8 HGNC HGNC:13993 protein_coding YES CCDS43243.1 ENSP00000339764 Q9NQV8 A0A024RDC4 UPI0000422A1D NM_020226.3 tolerated(0.31) benign(0) 10/10 mobidb-lite,hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF7,Gene3D:3.30.160.60 MODERATE 1 SNV 1 1 PASS CAG . . 80202651 NEUROG2 . GRCh38 chr4 112515052 112515052 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.424T>G p.Phe142Val p.F142V ENST00000313341 2/2 61 49 9 36 33 1 NEUROG2,missense_variant,p.Phe142Val,ENST00000313341,NM_024019.3;AC023886.1,upstream_gene_variant,,ENST00000504009,;AC023886.1,upstream_gene_variant,,ENST00000506057,;,regulatory_region_variant,,ENSR00000172069,; C ENSG00000178403 ENST00000313341 Transcript missense_variant 751/2287 424/819 142/272 F/V Ttc/Gtc 1 -1 NEUROG2 HGNC HGNC:13805 protein_coding YES CCDS3698.1 ENSP00000317333 Q9H2A3 UPI000006ED59 NM_024019.3 deleterious(0) probably_damaging(0.972) 2/2 Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF105,SMART_domains:SM00353,Superfamily_domains:SSF47459,cd00083 MODERATE 1 SNV 1 PASS AAC . . 112515052 PRSS12 . GRCh38 chr4 118352528 118352528 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.193T>G p.Phe65Val p.F65V ENST00000296498 1/13 59 41 17 22 20 0 PRSS12,missense_variant,p.Phe65Val,ENST00000296498,NM_003619.3;,regulatory_region_variant,,ENSR00000172341,; C ENSG00000164099 ENST00000296498 Transcript missense_variant 476/4809 193/2628 65/875 F/V Ttc/Gtc 1 -1 PRSS12 HGNC HGNC:9477 protein_coding YES CCDS3709.1 ENSP00000296498 P56730 UPI000013E34B NM_003619.3 tolerated_low_confidence(1) benign(0) 1/13 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAG . . 118352528 SH3D19 . GRCh38 chr4 151325317 151325317 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.36A>C p.Glu12Asp p.E12D ENST00000604030 1/20 52 40 9 37 37 0 SH3D19,missense_variant,p.Glu12Asp,ENST00000604030,;,regulatory_region_variant,,ENSR00000174770,; G ENSG00000109686 ENST00000604030 Transcript missense_variant 316/5228 36/3144 12/1047 E/D gaA/gaC 1 -1 SH3D19 HGNC HGNC:30418 protein_coding ENSP00000488951 A0A0U1RQE4 UPI00004133B2 tolerated_low_confidence(0.75) unknown(0) 1/20 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS CTT . . 151325317 SRD5A1 . GRCh38 chr5 6633583 6633583 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.7A>C p.Thr3Pro p.T3P ENST00000274192 1/5 64 53 8 40 39 0 SRD5A1,missense_variant,p.Thr3Pro,ENST00000274192,NM_001324322.1,NM_001324323.1,NM_001047.3;NSUN2,upstream_gene_variant,,ENST00000264670,NM_017755.5;NSUN2,upstream_gene_variant,,ENST00000506139,NM_001193455.1;SRD5A1,non_coding_transcript_exon_variant,,ENST00000504286,;SRD5A1,missense_variant,p.Thr3Pro,ENST00000510531,;SRD5A1,missense_variant,p.Thr3Pro,ENST00000513117,;NSUN2,upstream_gene_variant,,ENST00000504374,;,regulatory_region_variant,,ENSR00000177784,; C ENSG00000145545 ENST00000274192 Transcript missense_variant 241/7132 7/780 3/259 T/P Acg/Ccg 1 1 SRD5A1 HGNC HGNC:11284 protein_coding YES CCDS3870.1 ENSP00000274192 P18405 UPI00000534C8 NM_001324322.1,NM_001324323.1,NM_001047.3 tolerated_low_confidence(0.21) benign(0) 1/5 MODERATE 1 SNV 1 PASS AAC . . 6633583 ANKRD33B . GRCh38 chr5 10564469 10564469 + Translation_Start_Site SNP T T G novel 7316-329 BS_4RV40GPD T T c.2T>G p.Met1? p.M1? ENST00000296657 1/4 48 33 11 28 27 0 ANKRD33B,start_lost,p.Met1?,ENST00000296657,NM_001164440.1;ANKRD33B,start_lost,p.Met1?,ENST00000504806,;,regulatory_region_variant,,ENSR00000178107,; G ENSG00000164236 ENST00000296657 Transcript start_lost 2/9188 2/1485 1/494 M/R aTg/aGg 1 1 ANKRD33B HGNC HGNC:35240 protein_coding YES CCDS47191.1 ENSP00000296657 A6NCL7 UPI00001D7EE7 NM_001164440.1 deleterious_low_confidence(0) possibly_damaging(0.884) 1/4 mobidb-lite HIGH 1 SNV 5 PASS ATG . . 10564469 IL17B . GRCh38 chr5 149376969 149376969 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.78A>C p.Lys26Asn p.K26N ENST00000261796 2/3 55 45 6 23 23 0 IL17B,missense_variant,p.Lys26Asn,ENST00000261796,NM_014443.2;AC131025.1,downstream_gene_variant,,ENST00000521756,;IL17B,non_coding_transcript_exon_variant,,ENST00000505432,NM_001317987.1;IL17B,upstream_gene_variant,,ENST00000518814,; G ENSG00000127743 ENST00000261796 Transcript missense_variant 129/696 78/543 26/180 K/N aaA/aaC 1 -1 IL17B HGNC HGNC:5982 protein_coding YES CCDS4297.1 ENSP00000261796 Q9UHF5 UPI0000034D64 NM_014443.2 tolerated(0.13) possibly_damaging(0.888) 2/3 hmmpanther:PTHR44894,mobidb-lite MODERATE 1 SNV 1 PASS TTT . . 149376969 TXNDC5 . GRCh38 chr6 7910677 7910677 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.100T>G p.Trp34Gly p.W34G ENST00000379757 1/10 44 29 10 38 38 0 TXNDC5,missense_variant,p.Trp34Gly,ENST00000379757,NM_030810.3;TXNDC5,upstream_gene_variant,,ENST00000473453,NM_001145549.2;BLOC1S5-TXNDC5,intron_variant,,ENST00000439343,;,regulatory_region_variant,,ENSR00000192851,; C ENSG00000239264 ENST00000379757 Transcript missense_variant 138/2964 100/1299 34/432 W/G Tgg/Ggg 1 -1 TXNDC5 HGNC HGNC:21073 protein_coding YES CCDS4505.1 ENSP00000369081 Q8NBS9 UPI0000048EC3 NM_030810.3 tolerated_low_confidence(0.23) benign(0) 1/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 7910677 PRSS16 . GRCh38 chr6 27251049 27251049 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.599A>C p.His200Pro p.H200P ENST00000230582 6/12 48 39 9 28 28 0 PRSS16,missense_variant,p.His200Pro,ENST00000230582,NM_005865.3;PRSS16,missense_variant,p.His92Pro,ENST00000475106,;PRSS16,intron_variant,,ENST00000421826,;PRSS16,intron_variant,,ENST00000485993,;PRSS16,upstream_gene_variant,,ENST00000377456,;PRSS16,upstream_gene_variant,,ENST00000459736,;PRSS16,upstream_gene_variant,,ENST00000468138,;PRSS16,upstream_gene_variant,,ENST00000471463,;PRSS16,upstream_gene_variant,,ENST00000478690,;PRSS16,upstream_gene_variant,,ENST00000484493,;PRSS16,intron_variant,,ENST00000454665,;PRSS16,intron_variant,,ENST00000466364,;PRSS16,intron_variant,,ENST00000468930,;PRSS16,intron_variant,,ENST00000470870,;PRSS16,upstream_gene_variant,,ENST00000462664,;PRSS16,upstream_gene_variant,,ENST00000481125,;PRSS16,upstream_gene_variant,,ENST00000485603,;PRSS16,upstream_gene_variant,,ENST00000488649,;PRSS16,upstream_gene_variant,,ENST00000492575,;PRSS16,upstream_gene_variant,,ENST00000495683,;,regulatory_region_variant,,ENSR00000195112,; C ENSG00000112812 ENST00000230582 Transcript missense_variant 614/2716 599/1545 200/514 H/P cAt/cCt 1 1 PRSS16 HGNC HGNC:9480 protein_coding YES CCDS4623.1 ENSP00000230582 Q9NQE7 UPI0000137773 NM_005865.3 deleterious(0.01) probably_damaging(0.997) 6/12 hmmpanther:PTHR11010:SF22,hmmpanther:PTHR11010,Pfam_domain:PF05577,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474 MODERATE 1 SNV 1 PASS CAT . . 27251049 MDC1 . GRCh38 chr6 30704643 30704643 + Missense_Mutation SNP T T C rs771424163 7316-329 BS_4RV40GPD T T c.4540A>G p.Thr1514Ala p.T1514A ENST00000376406 10/15 66 47 5 31 28 0 MDC1,missense_variant,p.Thr1514Ala,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; C ENSG00000137337 ENST00000376406 Transcript missense_variant 5188/7576 4540/6270 1514/2089 T/A Acc/Gcc rs771424163 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0.001) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GTC . . 8.189e-06 3.039e-05 3.297e-05 30704643 MAP3K4 . GRCh38 chr6 160991996 160991996 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.65T>G p.Met22Arg p.M22R ENST00000392142 1/27 67 54 9 43 41 0 MAP3K4,missense_variant,p.Met22Arg,ENST00000392142,NM_001291958.1,NM_005922.3;MAP3K4,missense_variant,p.Met22Arg,ENST00000366920,NM_001301072.1;MAP3K4,missense_variant,p.Met22Arg,ENST00000366919,NM_006724.3;MAP3K4,missense_variant,p.Met22Arg,ENST00000348824,;AL139393.2,non_coding_transcript_exon_variant,,ENST00000608721,;MAP3K4,missense_variant,p.Met22Arg,ENST00000490904,;MAP3K4,missense_variant,p.Met22Arg,ENST00000544041,;MAP3K4,missense_variant,p.Met22Arg,ENST00000542952,;,regulatory_region_variant,,ENSR00000206406,; G ENSG00000085511 ENST00000392142 Transcript missense_variant 213/5490 65/4827 22/1608 M/R aTg/aGg 1 1 MAP3K4 HGNC HGNC:6856 protein_coding YES CCDS34565.1 ENSP00000375986 Q9Y6R4 UPI00004574E1 NM_001291958.1,NM_005922.3 deleterious_low_confidence(0.03) benign(0) 1/27 mobidb-lite MODERATE 1 SNV 1 PASS ATG . . 160991996 GATAD1 . GRCh38 chr7 92447956 92447956 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.227A>C p.Asn76Thr p.N76T ENST00000287957 1/5 57 46 8 28 28 0 GATAD1,missense_variant,p.Asn76Thr,ENST00000287957,NM_021167.4;TMBIM7P,upstream_gene_variant,,ENST00000641474,;GATAD1,missense_variant,p.Asn76Thr,ENST00000645746,;GATAD1,non_coding_transcript_exon_variant,,ENST00000644160,;GATAD1,upstream_gene_variant,,ENST00000493878,;,regulatory_region_variant,,ENSR00000215088,;,TF_binding_site_variant,,PB0010.1,;,TF_binding_site_variant,,MA0162.2,; C ENSG00000157259 ENST00000287957 Transcript missense_variant 509/3962 227/810 76/269 N/T aAc/aCc 1 1 GATAD1 HGNC HGNC:29941 protein_coding YES CCDS5625.1 ENSP00000287957 Q8WUU5 UPI000006FF00 NM_021167.4 tolerated(0.67) benign(0.153) 1/5 mobidb-lite,hmmpanther:PTHR13340,Gene3D:3.30.50.10 MODERATE 1 SNV 1 1 PASS AAC . . 92447956 MUC17 . GRCh38 chr7 101032432 101032432 + Missense_Mutation SNP C C T rs4729645 7316-329 BS_4RV40GPD C C c.1016C>T p.Thr339Met p.T339M ENST00000306151 3/13 71 60 8 35 35 0 MUC17,missense_variant,p.Thr339Met,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr339Met,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 1080/14247 1016/13482 339/4493 T/M aCg/aTg rs4729645,COSM1637073 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.26) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0.0755 0.0008 0.013 0.1875 0.003 0.18 0.002951 0.001163 0,1 26285705 MODERATE 1 SNV 1 0,1 PASS ACG . . 0.04026 0.001438 0.05118 0.1666 0.03049 0.001493 0.02323 0.1403 101032432 MUC17 . GRCh38 chr7 101039533 101039533 + Missense_Mutation SNP A A T 7316-329 BS_4RV40GPD A A c.8117A>T p.Asn2706Ile p.N2706I ENST00000306151 3/13 65 50 6 38 37 0 MUC17,missense_variant,p.Asn2706Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn2706Ile,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 8181/14247 8117/13482 2706/4493 N/I aAt/aTt COSM1673398 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0) benign(0.262) 3/13 hmmpanther:PTHR37999 1 MODERATE 1 SNV 1 1 PASS AAT . . 101039533 SMARCD3 . GRCh38 chr7 151245673 151245673 + Splice_Site SNP T T G novel 7316-329 BS_4RV40GPD T T c.79-2A>C p.X27_splice ENST00000262188 55 41 8 40 39 0 SMARCD3,splice_acceptor_variant,,ENST00000262188,NM_001003801.1;SMARCD3,splice_acceptor_variant,,ENST00000356800,NM_001003802.1;SMARCD3,splice_acceptor_variant,,ENST00000392811,NM_003078.3;SMARCD3,splice_acceptor_variant,,ENST00000491651,;AC005486.1,upstream_gene_variant,,ENST00000466775,;AC021097.1,downstream_gene_variant,,ENST00000607902,;SMARCD3,splice_acceptor_variant,,ENST00000460431,;SMARCD3,splice_acceptor_variant,,ENST00000477169,;SMARCD3,upstream_gene_variant,,ENST00000489503,;SMARCD3,splice_acceptor_variant,,ENST00000472988,;SMARCD3,splice_acceptor_variant,,ENST00000485610,;SMARCD3,intron_variant,,ENST00000469154,;SMARCD3,upstream_gene_variant,,ENST00000470588,;SMARCD3,upstream_gene_variant,,ENST00000472103,;SMARCD3,upstream_gene_variant,,ENST00000485592,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,PB0010.1,; G ENSG00000082014 ENST00000262188 Transcript splice_acceptor_variant 1 -1 SMARCD3 HGNC HGNC:11108 protein_coding YES CCDS34780.1 ENSP00000262188 Q6STE5 UPI000022D4B4 NM_001003801.1 1/12 HIGH 1 SNV 1 PASS CTG . . 151245673 HR . GRCh38 chr8 22128923 22128923 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.248A>C p.Asn83Thr p.N83T ENST00000381418 2/19 76 65 10 25 25 0 HR,missense_variant,p.Asn83Thr,ENST00000381418,NM_005144.4;HR,missense_variant,p.Asn83Thr,ENST00000312841,NM_018411.4;HR,downstream_gene_variant,,ENST00000518377,;HR,upstream_gene_variant,,ENST00000519619,;HR,non_coding_transcript_exon_variant,,ENST00000522759,; G ENSG00000168453 ENST00000381418 Transcript missense_variant 1729/6336 248/3570 83/1189 N/T aAt/aCt 1 -1 HR HGNC HGNC:5172 protein_coding YES CCDS6022.1 ENSP00000370826 O43593 UPI000013EB0B NM_005144.4 deleterious_low_confidence(0) possibly_damaging(0.575) 2/19 hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF4 MODERATE 1 SNV 1 1 PASS ATT . . 22128923 C8orf58 . GRCh38 chr8 22601858 22601858 + Splice_Region SNP T T G novel 7316-329 BS_4RV40GPD T T c.657+6T>G ENST00000289989 77 68 7 23 23 0 C8orf58,splice_region_variant,,ENST00000615223,;C8orf58,splice_region_variant,,ENST00000289989,NM_001013842.2;C8orf58,splice_region_variant,,ENST00000409586,NM_173686.2;AC037459.1,splice_region_variant,,ENST00000450780,;C8orf58,splice_region_variant,,ENST00000475994,;C8orf58,splice_region_variant,,ENST00000614574,NM_001198827.1;PDLIM2,downstream_gene_variant,,ENST00000265810,NM_176871.3;CCAR2,upstream_gene_variant,,ENST00000308511,;CCAR2,upstream_gene_variant,,ENST00000389279,NM_021174.5;AC037459.1,downstream_gene_variant,,ENST00000430850,;AC037459.1,downstream_gene_variant,,ENST00000447849,;C8orf58,upstream_gene_variant,,ENST00000495957,;CCAR2,upstream_gene_variant,,ENST00000518989,;CCAR2,upstream_gene_variant,,ENST00000521301,;CCAR2,upstream_gene_variant,,ENST00000521837,;CCAR2,upstream_gene_variant,,ENST00000523349,;CCAR2,upstream_gene_variant,,ENST00000523801,;C8orf58,downstream_gene_variant,,ENST00000453427,; G ENSG00000241852 ENST00000289989 Transcript splice_region_variant,intron_variant 1 1 C8orf58 HGNC HGNC:32233 protein_coding YES CCDS34862.1 ENSP00000289989 Q8NAV2 UPI000022D4E7 NM_001013842.2 3/6 LOW SNV 5 PASS GTG . . 22601858 PREX2 . GRCh38 chr8 67952507 67952507 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.113A>C p.Tyr38Ser p.Y38S ENST00000288368 1/40 64 51 8 29 28 0 PREX2,missense_variant,p.Tyr38Ser,ENST00000288368,NM_024870.3;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,NM_025170.5;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;,regulatory_region_variant,,ENSR00000225517,; C ENSG00000046889 ENST00000288368 Transcript missense_variant 390/10750 113/4821 38/1606 Y/S tAt/tCt 1 1 PREX2 HGNC HGNC:22950 protein_coding YES CCDS6201.1 ENSP00000288368 Q70Z35 UPI0000375435 NM_024870.3 deleterious(0) probably_damaging(0.96) 1/40 Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,SMART_domains:SM00325,Superfamily_domains:SSF48065,cd00160 MODERATE 1 SNV 1 1 PASS TAT . . 67952507 TIGD5 . GRCh38 chr8 143598987 143598987 + Missense_Mutation SNP T T A novel 7316-329 BS_4RV40GPD T T c.1084T>A p.Cys362Ser p.C362S ENST00000504548 1/1 62 47 7 39 39 0 TIGD5,missense_variant,p.Cys362Ser,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;PYCR3,downstream_gene_variant,,ENST00000220966,NM_023078.3;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; A ENSG00000179886 ENST00000504548 Transcript missense_variant 1153/5390 1084/1929 362/642 C/S Tgc/Agc 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 tolerated(0.2) benign(0.003) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR45428 MODERATE SNV PASS CTG . . 143598987 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 61 47 13 36 36 0 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 GRINA . GRCh38 chr8 143991548 143991548 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.325T>G p.Phe109Val p.F109V ENST00000313269 2/7 56 30 9 26 25 0 GRINA,missense_variant,p.Phe109Val,ENST00000313269,NM_000837.1;GRINA,missense_variant,p.Phe109Val,ENST00000395068,NM_001009184.1;GRINA,missense_variant,p.Phe109Val,ENST00000529301,;GRINA,missense_variant,p.Phe33Val,ENST00000534791,;PARP10,intron_variant,,ENST00000530478,;PARP10,upstream_gene_variant,,ENST00000525486,;PARP10,upstream_gene_variant,,ENST00000525879,;GRINA,upstream_gene_variant,,ENST00000527194,;PARP10,upstream_gene_variant,,ENST00000528136,;PARP10,upstream_gene_variant,,ENST00000528625,;PARP10,upstream_gene_variant,,ENST00000528914,;PARP10,upstream_gene_variant,,ENST00000529311,;PARP10,upstream_gene_variant,,ENST00000529842,;GRINA,downstream_gene_variant,,ENST00000530898,;PARP10,upstream_gene_variant,,ENST00000531537,;PARP10,upstream_gene_variant,,ENST00000531707,;PARP10,upstream_gene_variant,,ENST00000532311,;GRINA,upstream_gene_variant,,ENST00000533044,;PARP10,upstream_gene_variant,,ENST00000532660,;PARP10,upstream_gene_variant,,ENST00000534737,;GRINA,non_coding_transcript_exon_variant,,ENST00000525513,;GRINA,non_coding_transcript_exon_variant,,ENST00000531992,;GRINA,upstream_gene_variant,,ENST00000533377,; G ENSG00000178719 ENST00000313269 Transcript missense_variant 603/1968 325/1116 109/371 F/V Ttc/Gtc 1 1 GRINA HGNC HGNC:4589 protein_coding YES CCDS34961.1 ENSP00000314380 Q7Z429 UPI000015A99B NM_000837.1 tolerated(0.25) benign(0.04) 2/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23291:SF16,hmmpanther:PTHR23291 MODERATE 1 SNV 5 PASS CTT . . 143991548 TESK1 . GRCh38 chr9 35605631 35605631 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.12A>C p.Glu4Asp p.E4D ENST00000620767 2/11 40 33 7 29 28 1 TESK1,missense_variant,p.Glu4Asp,ENST00000620767,NM_006285.2,NM_001318230.1;TESK1,missense_variant,p.Glu4Asp,ENST00000336395,;CD72,downstream_gene_variant,,ENST00000259633,NM_001782.2;CD72,downstream_gene_variant,,ENST00000396757,;CD72,downstream_gene_variant,,ENST00000612238,;MIR4667,upstream_gene_variant,,ENST00000578933,;TESK1,non_coding_transcript_exon_variant,,ENST00000498522,;TESK1,upstream_gene_variant,,ENST00000463897,;TESK1,upstream_gene_variant,,ENST00000467424,;TESK1,upstream_gene_variant,,ENST00000480077,;CD72,downstream_gene_variant,,ENST00000490239,;,regulatory_region_variant,,ENSR00000234653,; C ENSG00000107140 ENST00000620767 Transcript missense_variant 279/2438 12/1881 4/626 E/D gaA/gaC 1 1 TESK1 HGNC HGNC:11731 protein_coding YES CCDS6580.1 ENSP00000481045 Q15569 UPI0000074302 NM_006285.2,NM_001318230.1 tolerated_low_confidence(0.5) benign(0.044) 2/11 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS AAC . . 35605631 CNTNAP3 . GRCh38 chr9 39078765 39078765 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.3598A>C p.Met1200Leu p.M1200L ENST00000297668 22/24 61 43 15 34 32 0 CNTNAP3,missense_variant,p.Met1200Leu,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Met1119Leu,ENST00000377656,;CNTNAP3,intron_variant,,ENST00000493965,;CNTNAP3,downstream_gene_variant,,ENST00000477002,;,regulatory_region_variant,,ENSR00000235026,; G ENSG00000106714 ENST00000297668 Transcript missense_variant 3672/5064 3598/3867 1200/1288 M/L Atg/Ctg 1 -1 CNTNAP3 HGNC HGNC:13834 protein_coding YES CCDS6616.1 ENSP00000297668 Q9BZ76 UPI000013E43B NM_033655.3 tolerated(1) benign(0) 22/24 PROSITE_profiles:PS50025,hmmpanther:PTHR43925,hmmpanther:PTHR43925:SF6 MODERATE 1 SNV 1 PASS ATA . . 39078765 ANKRD20A4 . GRCh38 chr9 64411223 64411223 + Missense_Mutation SNP T T G rs78815814 7316-329 BS_4RV40GPD T T c.1937T>G p.Met646Arg p.M646R ENST00000357336 15/15 50 40 9 26 26 0 ANKRD20A4,missense_variant,p.Met646Arg,ENST00000357336,NM_001098805.1; G ENSG00000172014 ENST00000357336 Transcript missense_variant 2218/4137 1937/2472 646/823 M/R aTg/aGg rs78815814,COSM1490069 1 1 ANKRD20A4 HGNC HGNC:31982 protein_coding YES CCDS43828.1 ENSP00000349891 Q4UJ75 UPI000051917A NM_001098805.1 deleterious(0) benign(0.02) 15/15 Gene3D:1.10.287.620,Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 0.09987 0.05519 0.04871 0.1067 0.02442 0.2393 0.1176 0.07536 0.07804 64411223 MEGF9 . GRCh38 chr9 120714240 120714240 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.119A>C p.Asn40Thr p.N40T ENST00000373930 1/6 58 42 9 33 32 0 MEGF9,missense_variant,p.Asn40Thr,ENST00000373930,NM_001080497.2;,regulatory_region_variant,,ENSR00000240796,; G ENSG00000106780 ENST00000373930 Transcript missense_variant 231/6298 119/1809 40/602 N/T aAt/aCt 1 -1 MEGF9 HGNC HGNC:3234 protein_coding YES CCDS48010.2 ENSP00000363040 Q9H1U4 UPI000045779F NM_001080497.2 deleterious_low_confidence(0) benign(0.221) 1/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF298 MODERATE 1 SNV 2 PASS ATT . . 120714240 DENND1A . GRCh38 chr9 123382309 123382309 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.2153T>G p.Ile718Ser p.I718S ENST00000373624 22/22 78 62 13 28 28 0 DENND1A,missense_variant,p.Ile718Ser,ENST00000373624,NM_020946.1;CRB2,downstream_gene_variant,,ENST00000373631,NM_173689.6;DENND1A,non_coding_transcript_exon_variant,,ENST00000473039,;CRB2,downstream_gene_variant,,ENST00000460253,; C ENSG00000119522 ENST00000373624 Transcript missense_variant 2355/5010 2153/3030 718/1009 I/S aTt/aGt 1 -1 DENND1A HGNC HGNC:29324 protein_coding YES CCDS35133.1 ENSP00000362727 Q8TEH3 UPI00004589D2 NM_020946.1 tolerated(0.11) benign(0.001) 22/22 Low_complexity_(Seg):seg,hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF22 MODERATE SNV 5 PASS AAT . . 123382309 NACC2 . GRCh38 chr9 136049954 136049954 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.568A>C p.Lys190Gln p.K190Q ENST00000277554 2/6 78 67 10 32 32 0 NACC2,missense_variant,p.Lys190Gln,ENST00000277554,NM_144653.4;NACC2,missense_variant,p.Lys190Gln,ENST00000371753,; G ENSG00000148411 ENST00000277554 Transcript missense_variant 724/6899 568/1764 190/587 K/Q Aag/Cag 1 -1 NACC2 HGNC HGNC:23846 protein_coding YES CCDS6993.1 ENSP00000277554 Q96BF6 A0A024R8I0 UPI0000073EEB NM_144653.4 tolerated(0.16) benign(0.113) 2/6 hmmpanther:PTHR44263,hmmpanther:PTHR44263:SF2 MODERATE 1 SNV 1 PASS TTG . . 136049954 NELFB . GRCh38 chr9 137255461 137255461 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.96A>C p.Glu32Asp p.E32D ENST00000343053 1/13 63 53 8 21 21 0 NELFB,missense_variant,p.Glu32Asp,ENST00000343053,NM_015456.4;NELFB,missense_variant,p.Glu32Asp,ENST00000634710,;STPG3,downstream_gene_variant,,ENST00000388931,NM_001256699.1;STPG3,downstream_gene_variant,,ENST00000412566,NM_001004353.3;STPG3,downstream_gene_variant,,ENST00000611378,NM_001256700.1;STPG3,downstream_gene_variant,,ENST00000620243,NM_001256701.1;STPG3-AS1,upstream_gene_variant,,ENST00000612170,;STPG3,downstream_gene_variant,,ENST00000610325,;STPG3,downstream_gene_variant,,ENST00000620716,;STPG3,downstream_gene_variant,,ENST00000622761,;,regulatory_region_variant,,ENSR00000243170,; C ENSG00000188986 ENST00000343053 Transcript missense_variant 289/2698 96/1887 32/628 E/D gaA/gaC 1 1 NELFB HGNC HGNC:24324 protein_coding YES CCDS7040.2 ENSP00000339495 A0A0X1KG71 UPI000719A1CA NM_015456.4 tolerated_low_confidence(0.3) benign(0.067) 1/13 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 137255461 ZNF365 . GRCh38 chr10 62459761 62459761 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.945A>C p.Glu315Asp p.E315D ENST00000410046 4/8 65 51 9 33 33 0 ZNF365,missense_variant,p.Glu315Asp,ENST00000410046,NM_199451.2;ZNF365,missense_variant,p.Glu315Asp,ENST00000395255,NM_199450.2; C ENSG00000138311 ENST00000410046 Transcript missense_variant 1225/3379 945/1389 315/462 E/D gaA/gaC 1 1 ZNF365 HGNC HGNC:18194 protein_coding YES CCDS7264.1 ENSP00000387091 Q70YC5 UPI00002323B9 NM_199451.2 tolerated_low_confidence(0.49) benign(0.003) 4/8 Gene3D:1.20.1170.10,hmmpanther:PTHR15739,hmmpanther:PTHR15739:SF2 MODERATE 1 SNV 2 1 PASS AAG . . 62459761 NKX2-3 . GRCh38 chr10 99535333 99535333 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.707A>C p.Lys236Thr p.K236T ENST00000344586 2/2 56 50 5 26 26 0 NKX2-3,missense_variant,p.Lys236Thr,ENST00000344586,NM_145285.2;NKX2-3,missense_variant,p.Lys236Thr,ENST00000622383,;LINC01475,upstream_gene_variant,,ENST00000548010,;,regulatory_region_variant,,ENSR00000032393,; C ENSG00000119919 ENST00000344586 Transcript missense_variant 906/2097 707/1095 236/364 K/T aAg/aCg 1 1 NKX2-3 HGNC HGNC:7836 protein_coding YES CCDS41558.1 ENSP00000342828 Q8TAU0 UPI00001301E8 NM_145285.2 deleterious(0) benign(0.261) 2/2 hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF32 MODERATE SNV 2 PASS AAG . . 99535333 VPS51 . GRCh38 chr11 65108633 65108633 + Missense_Mutation SNP G G A rs1364409815 7316-329 BS_4RV40GPD G G c.1162G>A p.Ala388Thr p.A388T ENST00000279281 5/10 77 54 21 38 38 0 VPS51,missense_variant,p.Ala388Thr,ENST00000279281,NM_013265.3;TM7SF2,upstream_gene_variant,,ENST00000279263,NM_003273.3;TM7SF2,upstream_gene_variant,,ENST00000345348,NM_001277233.1;TM7SF2,upstream_gene_variant,,ENST00000524986,;TM7SF2,upstream_gene_variant,,ENST00000525385,;TM7SF2,upstream_gene_variant,,ENST00000526085,;VPS51,downstream_gene_variant,,ENST00000526578,;TM7SF2,upstream_gene_variant,,ENST00000526809,;VPS51,upstream_gene_variant,,ENST00000526856,;TM7SF2,upstream_gene_variant,,ENST00000527968,;VPS51,downstream_gene_variant,,ENST00000528588,;TM7SF2,upstream_gene_variant,,ENST00000528802,;VPS51,downstream_gene_variant,,ENST00000529180,;TM7SF2,upstream_gene_variant,,ENST00000529414,;VPS51,upstream_gene_variant,,ENST00000530673,;TM7SF2,upstream_gene_variant,,ENST00000530750,;VPS51,downstream_gene_variant,,ENST00000530773,;TM7SF2,upstream_gene_variant,,ENST00000531321,;TM7SF2,upstream_gene_variant,,ENST00000534371,;VPS51,downstream_gene_variant,,ENST00000534557,;AP003068.1,downstream_gene_variant,,ENST00000528887,;VPS51,non_coding_transcript_exon_variant,,ENST00000527646,;TM7SF2,upstream_gene_variant,,ENST00000531029,;TM7SF2,upstream_gene_variant,,ENST00000533646,;TM7SF2,upstream_gene_variant,,ENST00000524690,;TM7SF2,upstream_gene_variant,,ENST00000526048,;TM7SF2,upstream_gene_variant,,ENST00000527851,;TM7SF2,upstream_gene_variant,,ENST00000528026,;TM7SF2,upstream_gene_variant,,ENST00000529233,;TM7SF2,upstream_gene_variant,,ENST00000529292,;TM7SF2,upstream_gene_variant,,ENST00000529601,;TM7SF2,upstream_gene_variant,,ENST00000530650,;TM7SF2,upstream_gene_variant,,ENST00000530892,;VPS51,upstream_gene_variant,,ENST00000531146,;TM7SF2,upstream_gene_variant,,ENST00000532328,;VPS51,downstream_gene_variant,,ENST00000533487,;VPS51,downstream_gene_variant,,ENST00000533656,;TM7SF2,upstream_gene_variant,,ENST00000533766,;VPS51,upstream_gene_variant,,ENST00000533827,;VPS51,downstream_gene_variant,,ENST00000534124,;VPS51,upstream_gene_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000534667,; A ENSG00000149823 ENST00000279281 Transcript missense_variant 1254/2714 1162/2349 388/782 A/T Gct/Act rs1364409815 1 1 VPS51 HGNC HGNC:1172 protein_coding YES CCDS8093.1 ENSP00000279281 Q9UID3 UPI000006D6D8 NM_013265.3 tolerated(0.46) benign(0.074) 5/10 hmmpanther:PTHR15954,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CGC . . 2.422e-05 0.0002093 0.0003073 65108633 C11orf68 . GRCh38 chr11 65917778 65917778 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.563T>G p.Ile188Ser p.I188S ENST00000438576 2/2 85 77 7 38 38 0 C11orf68,missense_variant,p.Ile188Ser,ENST00000438576,NM_001135635.1;C11orf68,missense_variant,p.Ile187Ser,ENST00000449692,NM_031450.3;C11orf68,missense_variant,p.Ile146Ser,ENST00000530188,;DRAP1,upstream_gene_variant,,ENST00000312515,NM_006442.3;DRAP1,upstream_gene_variant,,ENST00000376991,;DRAP1,upstream_gene_variant,,ENST00000525501,;DRAP1,upstream_gene_variant,,ENST00000527119,;DRAP1,upstream_gene_variant,,ENST00000532933,;DRAP1,upstream_gene_variant,,ENST00000525190,;DRAP1,upstream_gene_variant,,ENST00000530791,;DRAP1,upstream_gene_variant,,ENST00000531121,;DRAP1,upstream_gene_variant,,ENST00000534333,; C ENSG00000175573 ENST00000438576 Transcript missense_variant 649/1619 563/882 188/293 I/S aTt/aGt 1 -1 C11orf68 HGNC HGNC:28801 protein_coding YES CCDS44652.1 ENSP00000398350 Q9H3H3 UPI0000228EAC NM_001135635.1 deleterious(0) benign(0.283) 2/2 hmmpanther:PTHR31977,Gene3D:3.30.760.10,Pfam_domain:PF08939,Superfamily_domains:SSF55418 MODERATE SNV 2 PASS AAT . . 65917778 DSCAML1 . GRCh38 chr11 117428433 117428433 + Missense_Mutation SNP T T G rs756792352 7316-329 BS_4RV40GPD T T c.6237A>C p.Lys2079Asn p.K2079N ENST00000321322 33/33 53 41 5 28 25 0 DSCAML1,missense_variant,p.Lys2079Asn,ENST00000321322,NM_020693.3;DSCAML1,missense_variant,p.Lys1809Asn,ENST00000527706,; G ENSG00000177103 ENST00000321322 Transcript missense_variant 6239/6899 6237/6342 2079/2113 K/N aaA/aaC rs756792352 1 -1 DSCAML1 HGNC HGNC:14656 protein_coding YES CCDS8384.1 ENSP00000315465 Q8TD84 UPI00000726E2 NM_020693.3 deleterious_low_confidence(0) probably_damaging(0.997) 33/33 mobidb-lite,hmmpanther:PTHR44107:SF3,hmmpanther:PTHR44107 MODERATE 1 SNV 1 PASS TTT . . 5.194e-06 4.885e-05 117428433 KMT2D . GRCh38 chr12 49041040 49041040 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.6730T>G p.Phe2244Val p.F2244V ENST00000301067 31/54 75 61 14 25 24 0 KMT2D,missense_variant,p.Phe2244Val,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,; C ENSG00000167548 ENST00000301067 Transcript missense_variant 6730/19419 6730/16614 2244/5537 F/V Ttc/Gtc 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 deleterious(0) possibly_damaging(0.815) 31/54 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,mobidb-lite MODERATE 1 SNV 5 1 PASS AAT . . 49041040 SELPLG . GRCh38 chr12 108623678 108623678 + Missense_Mutation SNP T T A novel 7316-329 BS_4RV40GPD T T c.678A>T p.Glu226Asp p.E226D ENST00000228463 2/2 61 35 7 33 29 0 SELPLG,missense_variant,p.Glu210Asp,ENST00000550948,NM_003006.4;SELPLG,missense_variant,p.Glu226Asp,ENST00000228463,NM_001206609.1;SELPLG,missense_variant,p.Glu200Asp,ENST00000388962,; A ENSG00000110876 ENST00000228463 Transcript missense_variant 855/1704 678/1287 226/428 E/D gaA/gaT 1 -1 SELPLG HGNC HGNC:10722 protein_coding YES CCDS55881.1 ENSP00000228463 Q14242 UPI0002065776 NM_001206609.1 tolerated(0.11) possibly_damaging(0.794) 2/2 hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CTT . . 108623678 CIT . GRCh38 chr12 119752255 119752256 + Splice_Region DEL AG AG - rs147146275 7316-329 BS_4RV40GPD AG AG c.2707-9_2707-8del ENST00000392521 56 44 5 35 29 0 CIT,splice_region_variant,,ENST00000261833,NM_007174.2;CIT,splice_region_variant,,ENST00000392520,;CIT,splice_region_variant,,ENST00000392521,NM_001206999.1;CIT,intron_variant,,ENST00000536325,;CIT,intron_variant,,ENST00000612548,;CIT,upstream_gene_variant,,ENST00000546026,;CIT,splice_region_variant,,ENST00000537607,;CIT,splice_region_variant,,ENST00000545913,; - ENSG00000122966 ENST00000392521 Transcript splice_region_variant,intron_variant rs147146275,TMP_ESP_12_120190060_120190061,COSM4774174,COSM4774173 1 -1 CIT HGNC HGNC:1985 protein_coding YES CCDS55891.1 ENSP00000376306 O14578 UPI0000683C41 NM_001206999.1 22/47 0.06867 0.1061 0,0,1,1 LOW 1 deletion 1 0,0,1,1 1 PASS ACAGA . . 0.1196 0.05224 0.1485 0.1485 0.1422 0.0757 0.1077 0.1391 0.188 119752254 B3GNT4 . GRCh38 chr12 122203803 122203803 + Splice_Site SNP T T G novel 7316-329 BS_4RV40GPD T T c.-98+2T>G ENST00000324189 70 53 11 41 41 0 B3GNT4,splice_donor_variant,,ENST00000324189,NM_030765.2;B3GNT4,splice_donor_variant,,ENST00000537991,;B3GNT4,splice_donor_variant,,ENST00000546192,NM_001330492.1;DIABLO,downstream_gene_variant,,ENST00000267169,;LRRC43,downstream_gene_variant,,ENST00000339777,NM_001098519.1,NM_152759.4;DIABLO,downstream_gene_variant,,ENST00000353548,NM_001278342.1;DIABLO,downstream_gene_variant,,ENST00000413918,NM_001278302.1,NM_138930.3,NM_001278304.1,NM_001278303.1;DIABLO,downstream_gene_variant,,ENST00000439489,;DIABLO,downstream_gene_variant,,ENST00000443649,NM_019887.5;DIABLO,downstream_gene_variant,,ENST00000446652,;DIABLO,downstream_gene_variant,,ENST00000464942,;B3GNT4,upstream_gene_variant,,ENST00000535274,;DIABLO,downstream_gene_variant,,ENST00000645606,;B3GNT4,splice_donor_variant,,ENST00000538257,;B3GNT4,splice_donor_variant,,ENST00000545141,;LRRC43,downstream_gene_variant,,ENST00000537733,;LRRC43,downstream_gene_variant,,ENST00000541498,;DIABLO,downstream_gene_variant,,ENST00000342392,;DIABLO,downstream_gene_variant,,ENST00000474004,;DIABLO,downstream_gene_variant,,ENST00000489781,;AC048338.1,downstream_gene_variant,,ENST00000535844,;DIABLO,downstream_gene_variant,,ENST00000540535,;DIABLO,downstream_gene_variant,,ENST00000541273,;DIABLO,downstream_gene_variant,,ENST00000541656,;DIABLO,downstream_gene_variant,,ENST00000642640,;DIABLO,downstream_gene_variant,,ENST00000644227,;DIABLO,downstream_gene_variant,,ENST00000644509,;DIABLO,downstream_gene_variant,,ENST00000645569,;,regulatory_region_variant,,ENSR00000058572,; G ENSG00000176383 ENST00000324189 Transcript splice_donor_variant 1 1 B3GNT4 HGNC HGNC:15683 protein_coding YES CCDS9227.1 ENSP00000319636 Q9C0J1 A0A024RBT1 UPI0000051E30 NM_030765.2 1/2 HIGH 1 SNV 1 PASS GTA . . 122203803 PCCA . GRCh38 chr13 100089121 100089121 + Translation_Start_Site SNP A A C novel 7316-329 BS_4RV40GPD A A c.1A>C p.Met1? p.M1? ENST00000376285 1/24 62 50 9 34 32 0 PCCA,start_lost,p.Met1?,ENST00000376285,NM_000282.3;PCCA,start_lost,p.Met1?,ENST00000376286,NM_001127692.2;PCCA,start_lost,p.Met1?,ENST00000376279,NM_001178004.1;AL355338.1,upstream_gene_variant,,ENST00000612598,;PCCA,start_lost,p.Met1?,ENST00000647303,;,regulatory_region_variant,,ENSR00000065153,; C ENSG00000175198 ENST00000376285 Transcript start_lost 39/2494 1/2187 1/728 M/L Atg/Ctg 1 1 PCCA HGNC HGNC:8653 protein_coding YES CCDS9496.2 ENSP00000365462 P05165 UPI0000070089 NM_000282.3 deleterious_low_confidence(0) possibly_damaging(0.558) 1/24 HIGH 1 SNV 1 1 PASS AAT . . 100089121 KCNK13 . GRCh38 chr14 90062206 90062206 + Translation_Start_Site SNP A A C novel 7316-329 BS_4RV40GPD A A c.1A>C p.Met1? p.M1? ENST00000282146 1/2 46 35 9 31 31 0 KCNK13,start_lost,p.Met1?,ENST00000282146,NM_022054.3;,regulatory_region_variant,,ENSR00000071922,; C ENSG00000152315 ENST00000282146 Transcript start_lost 442/2522 1/1227 1/408 M/L Atg/Ctg 1 1 KCNK13 HGNC HGNC:6275 protein_coding YES CCDS9889.1 ENSP00000282146 Q9HB14 UPI0000127A55 NM_022054.3 tolerated_low_confidence(0.2) benign(0.01) 1/2 hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF57 HIGH 1 SNV 1 PASS CAT . . 90062206 RCOR1 . GRCh38 chr14 102593327 102593327 + Splice_Site SNP T T G novel 7316-329 BS_4RV40GPD T T c.361+2T>G p.X121_splice ENST00000262241 56 43 8 20 20 0 RCOR1,splice_donor_variant,,ENST00000262241,NM_015156.3;,regulatory_region_variant,,ENSR00000073407,; G ENSG00000089902 ENST00000262241 Transcript splice_donor_variant 1 1 RCOR1 HGNC HGNC:17441 protein_coding YES CCDS9974.2 ENSP00000262241 Q9UKL0 UPI0000D6A053 NM_015156.3 2/11 HIGH 1 SNV 1 PASS GTG . . 102593327 IGHV3-23 . GRCh38 chr14 106268631 106268631 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.328A>C p.Thr110Pro p.T110P ENST00000390609 2/2 131 115 15 61 61 0 IGHV3-23,missense_variant,p.Thr110Pro,ENST00000390609,;,regulatory_region_variant,,ENSR00000073881,;,regulatory_region_variant,,ENSR00000276379,;IGHVIII-22-2,upstream_gene_variant,,ENST00000518246,; G ENSG00000211949 ENST00000390609 Transcript missense_variant 407/432 328/353 110/117 T/P Acg/Ccg 1 -1 IGHV3-23 HGNC HGNC:5588 IG_V_gene YES ENSP00000375018 P01764 UPI00034F23AC deleterious_low_confidence(0) probably_damaging(0.946) 2/2 PDB-ENSP_mappings:1ohq.A,PDB-ENSP_mappings:1ohq.B,PDB-ENSP_mappings:3bn9.D,PDB-ENSP_mappings:3bn9.F,PDB-ENSP_mappings:3upc.A,PDB-ENSP_mappings:3upc.B,PDB-ENSP_mappings:3upc.C,PDB-ENSP_mappings:3upc.D,PDB-ENSP_mappings:3upc.E,PDB-ENSP_mappings:3upc.F,PDB-ENSP_mappings:3upc.G,PDB-ENSP_mappings:3upc.H,PDB-ENSP_mappings:3upc.I,PDB-ENSP_mappings:3upc.J,PDB-ENSP_mappings:3zhd.A,PDB-ENSP_mappings:3zhd.B,PDB-ENSP_mappings:3zhk.A,PDB-ENSP_mappings:3zhk.B,PDB-ENSP_mappings:3zhl.A,PDB-ENSP_mappings:4kfz.C,PDB-ENSP_mappings:4kfz.D MODERATE 1 SNV PASS GTG . . 106268631 INAFM2 . GRCh38 chr15 40324453 40324453 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.398T>G p.Leu133Arg p.L133R ENST00000638170 1/1 46 32 9 32 31 0 INAFM2,missense_variant,p.Leu133Arg,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; G ENSG00000259330 ENST00000638170 Transcript missense_variant 790/3052 398/462 133/153 L/R cTc/cGc 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS CTC . . 40324453 CHST14 . GRCh38 chr15 40471251 40471251 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.38A>C p.Asn13Thr p.N13T ENST00000306243 1/1 49 32 9 34 32 0 CHST14,missense_variant,p.Asn13Thr,ENST00000306243,NM_130468.3;CHST14,missense_variant,p.Asn13Thr,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000416165,NM_014952.4;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000561234,NM_001301132.1;AC013356.2,upstream_gene_variant,,ENST00000559730,;,regulatory_region_variant,,ENSR00000075526,; C ENSG00000169105 ENST00000306243 Transcript missense_variant 254/3574 38/1131 13/376 N/T aAt/aCt 1 1 CHST14 HGNC HGNC:24464 protein_coding YES CCDS10059.1 ENSP00000307297 Q8NCH0 UPI000004616D NM_130468.3 tolerated_low_confidence(0.6) benign(0.006) 1/1 MODERATE SNV 1 PASS AAT . . 40471251 C15orf59 . GRCh38 chr15 73739918 73739918 + Nonstop_Mutation SNP T T A 7316-329 BS_4RV40GPD T T c.881A>T p.Ter294LeuextTer12 p.*294Lext*12 ENST00000569673 3/3 42 20 5 28 23 0 C15orf59,stop_lost,p.Ter294LeuextTer12,ENST00000569673,;C15orf59,stop_lost,p.Ter294LeuextTer12,ENST00000379822,NM_001039614.2;C15orf59,downstream_gene_variant,,ENST00000559817,NM_001303254.1;C15orf59,downstream_gene_variant,,ENST00000558834,; A ENSG00000205363 ENST00000569673 Transcript stop_lost 2086/6573 881/882 294/293 */L tAg/tTg COSM6417510 1 -1 C15orf59 HGNC HGNC:33753 protein_coding YES CCDS32289.1 ENSP00000457205 Q2T9L4 UPI00001D778D 3/3 1 HIGH 1 SNV 5 1 PASS CTA . . 73739918 MESP2 . GRCh38 chr15 89776471 89776471 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.114T>G p.Asp38Glu p.D38E ENST00000341735 1/2 61 52 9 25 25 0 MESP2,missense_variant,p.Asp38Glu,ENST00000341735,NM_001039958.1;MESP2,intron_variant,,ENST00000560219,;MESP2,intron_variant,,ENST00000558723,;,regulatory_region_variant,,ENSR00000080955,; G ENSG00000188095 ENST00000341735 Transcript missense_variant 114/1552 114/1194 38/397 D/E gaT/gaG 1 1 MESP2 HGNC HGNC:29659 protein_coding YES CCDS42078.1 ENSP00000342392 Q0VG99 UPI00006E232B NM_001039958.1 tolerated(0.08) probably_damaging(0.914) 1/2 hmmpanther:PTHR20937,hmmpanther:PTHR20937:SF14,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS ATT . . 89776471 ARRDC4 . GRCh38 chr15 97961170 97961170 + Splice_Site SNP T T G novel 7316-329 BS_4RV40GPD T T c.307+2T>G p.X103_splice ENST00000268042 64 51 8 26 26 0 ARRDC4,splice_donor_variant,,ENST00000268042,NM_183376.2;,regulatory_region_variant,,ENSR00000081641,; G ENSG00000140450 ENST00000268042 Transcript splice_donor_variant 1 1 ARRDC4 HGNC HGNC:28087 protein_coding YES CCDS10377.1 ENSP00000268042 Q8NCT1 A0A024RC80 UPI00001C1F90 NM_183376.2 1/7 HIGH 1 SNV 1 PASS GTA . . 97961170 PRR35 . GRCh38 chr16 560664 560664 + Splice_Region SNP A A C novel 7316-329 BS_4RV40GPD A A c.-40+3A>C ENST00000409413 62 50 9 16 16 0 PRR35,splice_region_variant,,ENST00000409413,NM_145270.2; C ENSG00000161992 ENST00000409413 Transcript splice_region_variant,intron_variant 1 1 PRR35 HGNC HGNC:14139 protein_coding YES CCDS45365.1 ENSP00000386499 P0CG20 UPI000006F4B0 NM_145270.2 1/2 LOW 1 SNV 1 PASS TAG . . 560664 ZNF205 . GRCh38 chr16 3120324 3120324 + Nonstop_Mutation SNP A A C rs1247732749 7316-329 BS_4RV40GPD A A c.1664A>C p.Ter555SerextTer36 p.*555Sext*36 ENST00000620094 7/7 78 65 11 35 35 0 ZNF205,stop_lost,p.Ter555SerextTer36,ENST00000620094,NM_001278158.1;ZNF205,stop_lost,p.Ter555SerextTer36,ENST00000382192,NM_003456.2;ZNF205,stop_lost,p.Ter555SerextTer36,ENST00000219091,NM_001042428.1;ZNF205,downstream_gene_variant,,ENST00000414351,;ZNF205,downstream_gene_variant,,ENST00000444510,;ZNF205,downstream_gene_variant,,ENST00000570935,;ZNF213-AS1,intron_variant,,ENST00000572691,;ZNF213-AS1,intron_variant,,ENST00000575139,;ZNF213-AS1,intron_variant,,ENST00000576490,; C ENSG00000122386 ENST00000620094 Transcript stop_lost 2118/2309 1664/1665 555/554 */S tAg/tCg rs1247732749 1 1 ZNF205 HGNC HGNC:12996 protein_coding YES CCDS10494.2 ENSP00000480401 O95201 UPI00000437F2 NM_001278158.1 7/7 HIGH 1 SNV 1 PASS TAG . . 3120324 CORO1A . GRCh38 chr16 30183724 30183724 + Splice_Region SNP A A C novel 7316-329 BS_4RV40GPD A A c.-3A>C ENST00000219150 1/11 46 33 5 49 48 0 CORO1A,splice_region_variant,,ENST00000219150,NM_001193333.2,NM_007074.3;CORO1A,splice_region_variant,,ENST00000570045,;CORO1A,splice_region_variant,,ENST00000565497,;CORO1A,splice_region_variant,,ENST00000570244,;CORO1A,intron_variant,,ENST00000561815,;CORO1A,intron_variant,,ENST00000563778,;CORO1A,upstream_gene_variant,,ENST00000569203,;CORO1A,upstream_gene_variant,,ENST00000569970,;AC012645.3,non_coding_transcript_exon_variant,,ENST00000568506,;AC012645.3,non_coding_transcript_exon_variant,,ENST00000566144,;AC012645.3,downstream_gene_variant,,ENST00000567153,;CORO1A,splice_region_variant,,ENST00000566619,;CORO1A,splice_region_variant,,ENST00000569469,;CORO1A,intron_variant,,ENST00000564446,;CORO1A,splice_region_variant,,ENST00000568763,;CORO1A,splice_region_variant,,ENST00000568982,;CORO1A,upstream_gene_variant,,ENST00000561849,;CORO1A,upstream_gene_variant,,ENST00000562129,;CORO1A,upstream_gene_variant,,ENST00000564768,;CORO1A,upstream_gene_variant,,ENST00000567034,;,regulatory_region_variant,,ENSR00000085166,; C ENSG00000102879 ENST00000219150 Transcript splice_region_variant,5_prime_UTR_variant 303/1803 1 1 CORO1A HGNC HGNC:2252 protein_coding YES CCDS10673.1 ENSP00000219150 P31146 A0A024R611 UPI00000413AE NM_001193333.2,NM_007074.3 1/11 LOW 1 SNV 1 1 PASS CAG . . 30183724 ZNF785 . GRCh38 chr16 30583088 30583088 + Nonsense_Mutation SNP G G T rs542068093 7316-329 BS_4RV40GPD G G c.690C>A p.Cys230Ter p.C230* ENST00000395216 3/3 70 57 7 42 40 0 ZNF785,stop_gained,p.Cys230Ter,ENST00000395216,NM_152458.6;ZNF785,stop_gained,p.Cys215Ter,ENST00000470110,;ZNF785,downstream_gene_variant,,ENST00000567773,;AC002310.2,non_coding_transcript_exon_variant,,ENST00000492040,;AC002310.2,downstream_gene_variant,,ENST00000486926,;AC093249.2,upstream_gene_variant,,ENST00000563540,;ZNF785,upstream_gene_variant,,ENST00000562128,;AC093249.4,downstream_gene_variant,,ENST00000564755,; T ENSG00000197162 ENST00000395216 Transcript stop_gained 850/3282 690/1218 230/405 C/* tgC/tgA rs542068093,COSM6216016 1 -1 ZNF785 HGNC HGNC:26496 protein_coding YES CCDS10685.1 ENSP00000378642 A8K8V0 A0A024QZC7 UPI0000074535 NM_152458.6 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR45314,hmmpanther:PTHR45314:SF2,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.28.30,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 HIGH 1 SNV 1 0,1 PASS GGC . . 4.066e-06 8.968e-06 30583088 TENT4B . GRCh38 chr16 50154077 50154077 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.411T>G p.Asp137Glu p.D137E ENST00000436909 2/13 54 43 9 36 34 0 TENT4B,missense_variant,p.Asp137Glu,ENST00000436909,NM_001040285.2,NM_001040284.2;TENT4B,missense_variant,p.Asp70Glu,ENST00000561678,;RF00156,upstream_gene_variant,,ENST00000516717,;TENT4B,upstream_gene_variant,,ENST00000562717,;,regulatory_region_variant,,ENSR00000085732,;RPL10P14,upstream_gene_variant,,ENST00000565265,; G ENSG00000121274 ENST00000436909 Transcript missense_variant 446/4635 411/2097 137/698 D/E gaT/gaG 1 1 TENT4B HGNC HGNC:30758 protein_coding YES CCDS54006.1 ENSP00000396995 Q8NDF8 UPI00017A7DC6 NM_001040285.2,NM_001040284.2 tolerated_low_confidence(0.07) possibly_damaging(0.739) 2/13 hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF26,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS ATT . . 50154077 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-329 BS_4RV40GPD T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 56 42 11 25 25 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 CDT1 . GRCh38 chr16 88803976 88803976 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.145A>C p.Lys49Gln p.K49Q ENST00000301019 1/10 72 53 13 26 25 1 CDT1,missense_variant,p.Lys49Gln,ENST00000301019,NM_030928.3;CDT1,upstream_gene_variant,,ENST00000569140,;CDT1,upstream_gene_variant,,ENST00000562747,;,regulatory_region_variant,,ENSR00000089590,; C ENSG00000167513 ENST00000301019 Transcript missense_variant 764/3240 145/1641 49/546 K/Q Aag/Cag 1 1 CDT1 HGNC HGNC:24576 protein_coding YES CCDS32510.1 ENSP00000301019 Q9H211 UPI00001FF6B1 NM_030928.3 tolerated(0.13) benign(0.403) 1/10 PDB-ENSP_mappings:2wvr.C,Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR28637:SF1,hmmpanther:PTHR28637 MODERATE 1 SNV 1 1 PASS CAA . . 88803976 SHISA6 . GRCh38 chr17 11241621 11241621 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.199A>C p.Ile67Leu p.I67L ENST00000441885 1/6 49 36 10 27 25 1 SHISA6,missense_variant,p.Ile67Leu,ENST00000441885,NM_207386.3;SHISA6,missense_variant,p.Ile67Leu,ENST00000432116,NM_001173462.1;SHISA6,missense_variant,p.Ile67Leu,ENST00000409168,NM_001173461.1;SHISA6,upstream_gene_variant,,ENST00000343478,; C ENSG00000188803 ENST00000441885 Transcript missense_variant 359/7575 199/1656 67/551 I/L Atc/Ctc 1 1 SHISA6 HGNC HGNC:34491 protein_coding YES CCDS45615.1 ENSP00000390084 Q6ZSJ9 UPI000183CBD8 NM_207386.3 tolerated_low_confidence(0.63) benign(0) 1/6 hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0,mobidb-lite MODERATE 1 SNV 5 PASS AAT . . 11241621 MYO15A . GRCh38 chr17 18120308 18120308 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.1508T>G p.Ile503Ser p.I503S ENST00000205890 2/66 83 74 8 28 28 0 MYO15A,missense_variant,p.Ile503Ser,ENST00000205890,NM_016239.3;MYO15A,missense_variant,p.Ile503Ser,ENST00000615845,;MYO15A,missense_variant,p.Ile503Ser,ENST00000647165,;MYO15A,non_coding_transcript_exon_variant,,ENST00000583079,;,regulatory_region_variant,,ENSR00000092046,;,regulatory_region_variant,,ENSR00000282655,; G ENSG00000091536 ENST00000205890 Transcript missense_variant 1846/11867 1508/10593 503/3530 I/S aTt/aGt 1 1 MYO15A HGNC HGNC:7594 protein_coding YES CCDS42271.1 ENSP00000205890 Q9UKN7 UPI0000E59E6E NM_016239.3 deleterious_low_confidence(0) possibly_damaging(0.601) 2/66 hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF379,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ATT . . 18120308 ALKBH5 . GRCh38 chr17 18184455 18184455 + Missense_Mutation SNP A A C 7316-329 BS_4RV40GPD A A c.212A>C p.Tyr71Ser p.Y71S ENST00000399138 1/4 63 52 8 31 31 0 ALKBH5,missense_variant,p.Tyr71Ser,ENST00000399138,NM_017758.3;ALKBH5,intron_variant,,ENST00000541285,;MYO15A,downstream_gene_variant,,ENST00000205890,NM_016239.3;MYO15A,downstream_gene_variant,,ENST00000615845,;MYO15A,downstream_gene_variant,,ENST00000644795,;MYO15A,downstream_gene_variant,,ENST00000647165,;AC087164.1,non_coding_transcript_exon_variant,,ENST00000583062,;AC087164.1,non_coding_transcript_exon_variant,,ENST00000577847,;MYO15A,downstream_gene_variant,,ENST00000433411,;MYO15A,downstream_gene_variant,,ENST00000642418,;MYO15A,downstream_gene_variant,,ENST00000643693,;,regulatory_region_variant,,ENSR00000282660,; C ENSG00000091542 ENST00000399138 Transcript missense_variant 217/2748 212/1185 71/394 Y/S tAt/tCt COSM401684 1 1 ALKBH5 HGNC HGNC:25996 protein_coding YES CCDS42272.1 ENSP00000382091 Q6P6C2 UPI0000200AE2 NM_017758.3 tolerated_low_confidence(0.43) benign(0.055) 1/4 Gene3D:2.60.120.590,hmmpanther:PTHR32074,mobidb-lite 1 MODERATE SNV 2 1 PASS TAT . . 18184455 EPOP . GRCh38 chr17 38673889 38673889 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.607T>G p.Phe203Val p.F203V ENST00000621654 1/1 48 34 12 38 36 0 EPOP,missense_variant,p.Phe203Val,ENST00000621654,NM_001130677.1; C ENSG00000273604 ENST00000621654 Transcript missense_variant 1533/3719 607/1140 203/379 F/V Ttc/Gtc 1 -1 EPOP HGNC HGNC:34493 protein_coding YES CCDS45661.1 ENSP00000484710 A6NHQ4 UPI0000198ACE NM_001130677.1 tolerated_low_confidence(0.28) benign(0.038) 1/1 Prints_domain:PR01217,hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF1,mobidb-lite MODERATE 1 SNV PASS AAC . . 38673889 DLX3 . GRCh38 chr17 49993397 49993397 + Splice_Region SNP A A C novel 7316-329 BS_4RV40GPD A A c.516+3T>G ENST00000434704 79 66 11 28 28 0 DLX3,splice_region_variant,,ENST00000434704,NM_005220.2;DLX3,splice_region_variant,,ENST00000512495,;AC009720.2,upstream_gene_variant,,ENST00000511867,; C ENSG00000064195 ENST00000434704 Transcript splice_region_variant,intron_variant 1 -1 DLX3 HGNC HGNC:2916 protein_coding YES CCDS11556.1 ENSP00000389870 O60479 UPI00001294B0 NM_005220.2 2/2 LOW 1 SNV 1 1 PASS CAA . . 49993397 SMURF2 . GRCh38 chr17 64661855 64661855 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.26A>C p.Asn9Thr p.N9T ENST00000262435 1/19 43 31 10 33 32 0 SMURF2,missense_variant,p.Asn9Thr,ENST00000262435,NM_022739.3;SMURF2,missense_variant,p.Asn9Thr,ENST00000585301,;SMURF2,upstream_gene_variant,,ENST00000578200,;SMURF2,missense_variant,p.Asn9Thr,ENST00000582081,;SMURF2,missense_variant,p.Asn9Thr,ENST00000578386,;,regulatory_region_variant,,ENSR00000096996,; G ENSG00000108854 ENST00000262435 Transcript missense_variant 214/2918 26/2247 9/748 N/T aAc/aCc 1 -1 SMURF2 HGNC HGNC:16809 protein_coding YES CCDS32707.1 ENSP00000262435 Q9HAU4 UPI00001361C5 NM_022739.3 tolerated(0.09) benign(0) 1/19 hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF300,PIRSF_domain:PIRSF001569 MODERATE 1 SNV 1 PASS GTT . . 64661855 UNC13D . GRCh38 chr17 75844232 75844232 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.106A>C p.Met36Leu p.M36L ENST00000207549 1/32 72 58 8 38 37 0 UNC13D,missense_variant,p.Met36Leu,ENST00000207549,NM_199242.2;UNC13D,missense_variant,p.Met36Leu,ENST00000412096,;UNC13D,missense_variant,p.Met35Leu,ENST00000592386,;UNC13D,missense_variant,p.Met36Leu,ENST00000586147,;UNC13D,missense_variant,p.Met36Leu,ENST00000586108,;WBP2,downstream_gene_variant,,ENST00000254806,NM_012478.3;WBP2,downstream_gene_variant,,ENST00000433525,;WBP2,downstream_gene_variant,,ENST00000585462,;WBP2,downstream_gene_variant,,ENST00000586257,;WBP2,downstream_gene_variant,,ENST00000587374,;WBP2,downstream_gene_variant,,ENST00000589642,;WBP2,downstream_gene_variant,,ENST00000590221,;UNC13D,upstream_gene_variant,,ENST00000590762,;WBP2,downstream_gene_variant,,ENST00000591399,NM_001348170.1;WBP2,downstream_gene_variant,,ENST00000593002,;WBP2,downstream_gene_variant,,ENST00000626827,;UNC13D,upstream_gene_variant,,ENST00000585574,;UNC13D,upstream_gene_variant,,ENST00000587504,;WBP2,downstream_gene_variant,,ENST00000590450,;UNC13D,non_coding_transcript_exon_variant,,ENST00000591563,;UNC13D,non_coding_transcript_exon_variant,,ENST00000588774,;WBP2,downstream_gene_variant,,ENST00000416574,;UNC13D,upstream_gene_variant,,ENST00000587105,;UNC13D,upstream_gene_variant,,ENST00000587495,;WBP2,downstream_gene_variant,,ENST00000587642,;WBP2,downstream_gene_variant,,ENST00000588373,;WBP2,downstream_gene_variant,,ENST00000589236,;WBP2,downstream_gene_variant,,ENST00000589241,;WBP2,downstream_gene_variant,,ENST00000591831,;,regulatory_region_variant,,ENSR00000098459,; G ENSG00000092929 ENST00000207549 Transcript missense_variant 486/4393 106/3273 36/1090 M/L Atg/Ctg 1 -1 UNC13D HGNC HGNC:23147 protein_coding YES CCDS11730.1 ENSP00000207549 Q70J99 UPI000015FC91 NM_199242.2 tolerated(0.3) benign(0) 1/32 Low_complexity_(Seg):seg,hmmpanther:PTHR10774:SF98,hmmpanther:PTHR10774 MODERATE 1 SNV 1 1 PASS ATT . . 75844232 KDSR . GRCh38 chr18 63367017 63367017 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.102T>G p.His34Gln p.H34Q ENST00000406396 1/10 49 41 6 32 30 0 KDSR,missense_variant,p.His34Gln,ENST00000406396,;KDSR,missense_variant,p.His34Gln,ENST00000645214,NM_002035.2;KDSR,missense_variant,p.His34Gln,ENST00000591902,;KDSR,missense_variant,p.His34Gln,ENST00000326575,;KDSR,missense_variant,p.His34Gln,ENST00000592327,;AC036176.1,upstream_gene_variant,,ENST00000589905,;KDSR,non_coding_transcript_exon_variant,,ENST00000587292,;KDSR,missense_variant,p.His34Gln,ENST00000646205,;KDSR,missense_variant,p.His34Gln,ENST00000644624,;KDSR,non_coding_transcript_exon_variant,,ENST00000589530,;KDSR,non_coding_transcript_exon_variant,,ENST00000585456,;,regulatory_region_variant,,ENSR00000104511,; C ENSG00000119537 ENST00000406396 Transcript missense_variant 494/5447 102/999 34/332 H/Q caT/caG 1 -1 KDSR HGNC HGNC:4021 protein_coding YES CCDS11982.1 ENSP00000385083 Q06136 A0A024R292 UPI000004C798 deleterious(0.02) benign(0.028) 1/10 cd08939,hmmpanther:PTHR43550:SF3,hmmpanther:PTHR43550,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081 MODERATE 1 SNV 1 1 PASS CAT . . 63367017 GAMT . GRCh38 chr19 1401329 1401329 + Missense_Mutation SNP T T G rs104894694 7316-329 BS_4RV40GPD T T c.148A>C p.Met50Leu p.M50L ENST00000447102 1/5 52 43 8 31 29 1 GAMT,missense_variant,p.Met50Leu,ENST00000447102,NM_138924.2;GAMT,missense_variant,p.Met50Leu,ENST00000252288,NM_000156.5;GAMT,intron_variant,,ENST00000640762,;GAMT,upstream_gene_variant,,ENST00000591788,;AC005329.1,upstream_gene_variant,,ENST00000501448,;GAMT,upstream_gene_variant,,ENST00000640164,;,regulatory_region_variant,,ENSR00000105680,; G ENSG00000130005 ENST00000447102 Transcript missense_variant 242/1769 148/810 50/269 M/L Atg/Ctg rs104894694,CM065210 1 -1 GAMT HGNC HGNC:4136 protein_coding YES CCDS45897.1 ENSP00000403536 Q14353 UPI0000161182 NM_138924.2 deleterious(0.01) probably_damaging(0.913) 1/5 Gene3D:3.40.50.150,PROSITE_profiles:PS51559,hmmpanther:PTHR32379,Superfamily_domains:SSF53335 pathogenic 17101918 MODERATE 1 SNV 2 1,1 1 PASS ATA . . 1401329 PLEKHJ1 . GRCh38 chr19 2236178 2236178 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.71T>G p.Met24Arg p.M24R ENST00000587394 1/6 98 81 7 41 39 0 PLEKHJ1,missense_variant,p.Met24Arg,ENST00000589097,;PLEKHJ1,missense_variant,p.Met24Arg,ENST00000587962,;PLEKHJ1,missense_variant,p.Met24Arg,ENST00000326631,NM_018049.2;PLEKHJ1,missense_variant,p.Met24Arg,ENST00000591099,;PLEKHJ1,missense_variant,p.Met24Arg,ENST00000587394,NM_001300836.1;PLEKHJ1,missense_variant,p.Met24Arg,ENST00000586608,;SF3A2,upstream_gene_variant,,ENST00000221494,NM_007165.4;DOT1L,downstream_gene_variant,,ENST00000398665,NM_032482.2;SF3A2,upstream_gene_variant,,ENST00000586396,;MIR1227,upstream_gene_variant,,ENST00000408484,;MIR6789,upstream_gene_variant,,ENST00000619892,;PLEKHJ1,intron_variant,,ENST00000589791,;PLEKHJ1,upstream_gene_variant,,ENST00000588633,;PLEKHJ1,non_coding_transcript_exon_variant,,ENST00000588450,;PLEKHJ1,non_coding_transcript_exon_variant,,ENST00000588356,;PLEKHJ1,non_coding_transcript_exon_variant,,ENST00000586497,;PLEKHJ1,upstream_gene_variant,,ENST00000585423,;PLEKHJ1,upstream_gene_variant,,ENST00000588545,;SF3A2,upstream_gene_variant,,ENST00000589118,;SF3A2,upstream_gene_variant,,ENST00000592314,;SF3A2,upstream_gene_variant,,ENST00000592839,;,regulatory_region_variant,,ENSR00000287015,; C ENSG00000104886 ENST00000587394 Transcript missense_variant 95/937 71/834 24/277 M/R aTg/aGg 1 -1 PLEKHJ1 HGNC HGNC:18211 protein_coding YES CCDS74251.1 ENSP00000464955 K7EIZ3 UPI0000202FBE NM_001300836.1 deleterious_low_confidence(0.05) possibly_damaging(0.885) 1/6 Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR22902,hmmpanther:PTHR22902:SF9,SMART_domains:SM00233,Superfamily_domains:SSF50729,cd13258 MODERATE SNV 2 PASS CAT . . 2236178 SEMA6B . GRCh38 chr19 4543638 4543638 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.2630A>C p.Tyr877Ser p.Y877S ENST00000586582 17/17 57 45 9 36 36 0 SEMA6B,missense_variant,p.Tyr877Ser,ENST00000586582,NM_032108.3;SEMA6B,intron_variant,,ENST00000586965,;LRG1,upstream_gene_variant,,ENST00000306390,NM_052972.2;LRG1,upstream_gene_variant,,ENST00000586883,;AC011498.4,upstream_gene_variant,,ENST00000586020,;SEMA6B,downstream_gene_variant,,ENST00000589889,;,regulatory_region_variant,,ENSR00000106224,; G ENSG00000167680 ENST00000586582 Transcript missense_variant 2941/3986 2630/2667 877/888 Y/S tAt/tCt 1 -1 SEMA6B HGNC HGNC:10739 protein_coding YES CCDS12131.1 ENSP00000467290 Q9H3T3 UPI000004BA6B NM_032108.3 tolerated_low_confidence(0.18) benign(0.01) 17/17 mobidb-lite,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10 MODERATE 1 SNV 1 PASS ATA . . 4543638 FEM1A . GRCh38 chr19 4791944 4791944 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.90A>C p.Glu30Asp p.E30D ENST00000269856 1/1 107 93 12 28 28 0 FEM1A,missense_variant,p.Glu30Asp,ENST00000269856,NM_018708.2;AC005523.1,upstream_gene_variant,,ENST00000598782,;AC005523.2,non_coding_transcript_exon_variant,,ENST00000601192,;AC005523.2,downstream_gene_variant,,ENST00000596170,;,regulatory_region_variant,,ENSR00000106273,; C ENSG00000141965 ENST00000269856 Transcript missense_variant 264/9593 90/2010 30/669 E/D gaA/gaC 1 1 FEM1A HGNC HGNC:16934 protein_coding YES CCDS12135.1 ENSP00000269856 Q9BSK4 UPI0000073096 NM_018708.2 tolerated(0.12) benign(0.165) 1/1 PROSITE_profiles:PS50297,hmmpanther:PTHR24173:SF12,hmmpanther:PTHR24173,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403 MODERATE SNV PASS AAC . . 4791944 ZNF136 . GRCh38 chr19 12187545 12187545 + Missense_Mutation SNP A A T novel 7316-329 BS_4RV40GPD A A c.1167A>T p.Glu389Asp p.E389D ENST00000343979 4/4 81 72 8 27 27 0 ZNF136,missense_variant,p.Glu389Asp,ENST00000343979,NM_003437.3,NM_001348014.1,NM_001348013.1;ZNF136,downstream_gene_variant,,ENST00000418338,;ZNF136,downstream_gene_variant,,ENST00000425827,;ZNF136,downstream_gene_variant,,ENST00000439995,;ZNF136,non_coding_transcript_exon_variant,,ENST00000464860,;ZNF136,downstream_gene_variant,,ENST00000476676,; T ENSG00000196646 ENST00000343979 Transcript missense_variant 1307/3643 1167/1623 389/540 E/D gaA/gaT 1 1 ZNF136 HGNC HGNC:12920 protein_coding YES CCDS32916.1 ENSP00000344162 P52737 UPI0000000C7B NM_003437.3,NM_001348014.1,NM_001348013.1 tolerated(0.31) benign(0.007) 4/4 Gene3D:3.30.40.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF638,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAG . . 12187545 TMEM59L . GRCh38 chr19 18612844 18612844 + Splice_Region SNP T T G novel 7316-329 BS_4RV40GPD T T c.-108-7T>G ENST00000600490 82 60 17 30 28 0 TMEM59L,splice_region_variant,,ENST00000600490,;TMEM59L,upstream_gene_variant,,ENST00000262817,NM_012109.2;TMEM59L,upstream_gene_variant,,ENST00000594709,;TMEM59L,upstream_gene_variant,,ENST00000594859,;TMEM59L,upstream_gene_variant,,ENST00000598660,;,regulatory_region_variant,,ENSR00000108114,; G ENSG00000105696 ENST00000600490 Transcript splice_region_variant,intron_variant 1 1 TMEM59L HGNC HGNC:13237 protein_coding YES CCDS12383.1 ENSP00000470879 Q9UK28 A0A024R7L4 UPI0000034024 1/8 LOW 1 SNV 5 PASS CTT . . 18612844 ZNF253 . GRCh38 chr19 19892042 19892042 + Missense_Mutation SNP C C A novel 7316-329 BS_4RV40GPD C C c.795C>A p.Phe265Leu p.F265L ENST00000589717 4/4 76 58 7 36 35 1 ZNF253,missense_variant,p.Phe265Leu,ENST00000589717,NM_021047.2;ZNF253,missense_variant,p.Phe189Leu,ENST00000355650,NM_001331134.1;ZNF253,missense_variant,p.Phe201Leu,ENST00000592725,;ZNF253,intron_variant,,ENST00000640599,;AC011477.3,downstream_gene_variant,,ENST00000585571,; A ENSG00000256771 ENST00000589717 Transcript missense_variant 887/3519 795/1500 265/499 F/L ttC/ttA 1 1 ZNF253 HGNC HGNC:13497 protein_coding YES CCDS42532.1 ENSP00000468720 O75346 UPI0000070CE8 NM_021047.2 deleterious(0.01) possibly_damaging(0.509) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF181,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TCA . . 19892042 ZNF90 . GRCh38 chr19 20118786 20118786 + Missense_Mutation SNP C C A 7316-329 BS_4RV40GPD C C c.1232C>A p.Thr411Lys p.T411K ENST00000418063 4/4 69 58 7 45 44 0 ZNF90,missense_variant,p.Thr411Lys,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; A ENSG00000213988 ENST00000418063 Transcript missense_variant 1344/2310 1232/1806 411/601 T/K aCa/aAa COSM5950317 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(0.46) benign(0.281) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS ACA . . 20118786 ZNF737 . GRCh38 chr19 20544795 20544795 + Missense_Mutation SNP C C G novel 7316-329 BS_4RV40GPD C C c.1408G>C p.Ala470Pro p.A470P ENST00000427401 4/4 72 51 6 32 29 0 ZNF737,missense_variant,p.Ala470Pro,ENST00000427401,NM_001159293.1;ZNF737,downstream_gene_variant,,ENST00000594419,;ZNF737,upstream_gene_variant,,ENST00000596530,;ZNF737,downstream_gene_variant,,ENST00000597940,; G ENSG00000237440 ENST00000427401 Transcript missense_variant 1503/2867 1408/1611 470/536 A/P Gca/Cca 1 -1 ZNF737 HGNC HGNC:32468 protein_coding YES CCDS54238.1 ENSP00000395733 O75373 UPI0000198506 NM_001159293.1 tolerated(0.06) benign(0.308) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GCA . . 20544795 ZNF431 . GRCh38 chr19 21183563 21183563 + Missense_Mutation SNP G G T 7316-329 BS_4RV40GPD G G c.1260G>T p.Met420Ile p.M420I ENST00000311048 5/5 80 60 8 40 40 0 ZNF431,missense_variant,p.Met420Ile,ENST00000311048,NM_133473.2,NM_001319127.1,NM_001319124.1;ZNF431,3_prime_UTR_variant,,ENST00000600692,NM_001319126.1;ZNF431,intron_variant,,ENST00000594425,;ZNF431,downstream_gene_variant,,ENST00000598331,;ZNF431,downstream_gene_variant,,ENST00000599296,;ZNF431,upstream_gene_variant,,ENST00000593426,;ZNF431,upstream_gene_variant,,ENST00000594821,; T ENSG00000196705 ENST00000311048 Transcript missense_variant 1404/13894 1260/1731 420/576 M/I atG/atT COSM5776759 1 1 ZNF431 HGNC HGNC:20809 protein_coding YES CCDS32979.1 ENSP00000308578 Q8TF32 A0A024R7Q8 UPI0000191EAC NM_133473.2,NM_001319127.1,NM_001319124.1 tolerated(0.72) benign(0) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF121,hmmpanther:PTHR24384:SF121,hmmpanther:PTHR24384:SF121,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS TGA . . 21183563 ZNF257 . GRCh38 chr19 22088783 22088783 + Missense_Mutation SNP C C A rs555293490 7316-329 BS_4RV40GPD C C c.1033C>A p.Gln345Lys p.Q345K ENST00000594947 4/4 72 59 8 32 30 0 ZNF257,missense_variant,p.Gln345Lys,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; A ENSG00000197134 ENST00000594947 Transcript missense_variant 1177/3874 1033/1692 345/563 Q/K Caa/Aaa rs555293490,COSM6291265,COSM6084828,COSM6084827 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1,1 MODERATE 1 SNV 4 0,1,1,1 PASS CCA . . 22088783 ZNF257 . GRCh38 chr19 22089223 22089223 + Missense_Mutation SNP A A T 7316-329 BS_4RV40GPD A A c.1473A>T p.Glu491Asp p.E491D ENST00000594947 4/4 81 69 5 39 38 0 ZNF257,missense_variant,p.Glu491Asp,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; T ENSG00000197134 ENST00000594947 Transcript missense_variant 1617/3874 1473/1692 491/563 E/D gaA/gaT COSM4076330 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 deleterious(0.03) benign(0.025) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS AAT . . 22089223 ZNF729 . GRCh38 chr19 22314465 22314465 + Missense_Mutation SNP C C A 7316-329 BS_4RV40GPD C C c.1048C>A p.Arg350Ser p.R350S ENST00000601693 4/4 96 78 9 37 36 0 ZNF729,missense_variant,p.Arg350Ser,ENST00000601693,NM_001242680.1; A ENSG00000196350 ENST00000601693 Transcript missense_variant 1166/3877 1048/3759 350/1252 R/S Cgt/Agt COSM4599716 1 1 ZNF729 HGNC HGNC:32464 protein_coding YES CCDS59368.1 ENSP00000469582 A6NN14 UPI000042600C NM_001242680.1 deleterious(0) benign(0.056) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS GCG . . 22314465 HNRNPL . GRCh38 chr19 38849872 38849872 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.95T>G p.Met32Arg p.M32R ENST00000221419 1/13 63 55 8 27 26 1 HNRNPL,missense_variant,p.Met32Arg,ENST00000221419,NM_001533.2;HNRNPL,missense_variant,p.Met24Arg,ENST00000601813,;HNRNPL,intron_variant,,ENST00000600873,NM_001005335.1;HNRNPL,intron_variant,,ENST00000601449,;HNRNPL,upstream_gene_variant,,ENST00000600233,;AC008982.2,upstream_gene_variant,,ENST00000600473,;HNRNPL,intron_variant,,ENST00000388749,;HNRNPL,intron_variant,,ENST00000598985,;HNRNPL,intron_variant,,ENST00000601047,;HNRNPL,upstream_gene_variant,,ENST00000600741,;,regulatory_region_variant,,ENSR00000109334,; C ENSG00000104824 ENST00000221419 Transcript missense_variant 462/2471 95/1770 32/589 M/R aTg/aGg 1 -1 HNRNPL HGNC HGNC:5045 protein_coding YES CCDS33015.1 ENSP00000221419 P14866 UPI00004432FA NM_001533.2 deleterious_low_confidence(0.03) benign(0.042) 1/13 mobidb-lite,Gene3D:3.30.70.330 MODERATE 1 SNV 1 PASS CAT . . 38849872 EID2 . GRCh38 chr19 39540030 39540030 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.50A>C p.Asn17Thr p.N17T ENST00000390658 1/1 95 82 10 22 22 0 EID2,missense_variant,p.Asn17Thr,ENST00000390658,NM_153232.3;,regulatory_region_variant,,ENSR00000109440,; G ENSG00000176396 ENST00000390658 Transcript missense_variant 304/1629 50/711 17/236 N/T aAt/aCt 1 -1 EID2 HGNC HGNC:28292 protein_coding YES CCDS12540.2 ENSP00000375073 Q8N6I1 UPI00001E052F NM_153232.3 deleterious(0.03) benign(0.01) 1/1 hmmpanther:PTHR15556,hmmpanther:PTHR15556:SF3,mobidb-lite MODERATE 1 SNV PASS ATT . . 39540030 DYRK1B . GRCh38 chr19 39833265 39833265 + Splice_Site SNP A A C novel 7316-329 BS_4RV40GPD A A c.-102+2T>G ENST00000593685 56 39 13 32 29 2 DYRK1B,splice_donor_variant,,ENST00000593685,;DYRK1B,intron_variant,,ENST00000323039,NM_004714.2;DYRK1B,intron_variant,,ENST00000348817,NM_006484.2;DYRK1B,intron_variant,,ENST00000430012,NM_006483.2;DYRK1B,intron_variant,,ENST00000600611,;DYRK1B,intron_variant,,ENST00000601972,;FBL,downstream_gene_variant,,ENST00000221801,NM_001436.3;FBL,downstream_gene_variant,,ENST00000595545,;FBL,downstream_gene_variant,,ENST00000597224,;FBL,downstream_gene_variant,,ENST00000597634,;DYRK1B,upstream_gene_variant,,ENST00000597639,;FBL,downstream_gene_variant,,ENST00000598417,;FBL,downstream_gene_variant,,ENST00000601274,;MIR6719,upstream_gene_variant,,ENST00000622428,;FBL,downstream_gene_variant,,ENST00000593503,;FBL,downstream_gene_variant,,ENST00000594443,;FBL,downstream_gene_variant,,ENST00000599159,;DYRK1B,upstream_gene_variant,,ENST00000601696,;,regulatory_region_variant,,ENSR00000109449,; C ENSG00000105204 ENST00000593685 Transcript splice_donor_variant 1 -1 DYRK1B HGNC HGNC:3092 protein_coding YES CCDS12543.1 ENSP00000469863 Q9Y463 A0A024R0I0 UPI0000001059 1/10 HIGH SNV 5 1 PASS TAC . . 39833265 NOVA2 . GRCh38 chr19 45940551 45940551 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.791T>G p.Phe264Cys p.F264C ENST00000263257 4/4 55 42 10 38 38 0 NOVA2,missense_variant,p.Phe264Cys,ENST00000263257,NM_002516.3;NOVA2,downstream_gene_variant,,ENST00000596784,; C ENSG00000104967 ENST00000263257 Transcript missense_variant 986/7803 791/1479 264/492 F/C tTt/tGt 1 -1 NOVA2 HGNC HGNC:7887 protein_coding YES CCDS12679.1 ENSP00000263257 Q9UNW9 UPI000006EBE8 NM_002516.3 deleterious(0.04) probably_damaging(0.971) 4/4 Low_complexity_(Seg):seg,hmmpanther:PTHR10288:SF162,hmmpanther:PTHR10288 MODERATE 1 SNV 1 PASS AAA . . 45940551 SHANK1 . GRCh38 chr19 50688957 50688957 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.2059A>C p.Ile687Leu p.I687L ENST00000293441 16/23 53 36 8 32 30 0 SHANK1,missense_variant,p.Ile687Leu,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Ile687Leu,ENST00000391814,;SHANK1,missense_variant,p.Ile678Leu,ENST00000359082,;SHANK1,missense_variant,p.Ile74Leu,ENST00000391813,; G ENSG00000161681 ENST00000293441 Transcript missense_variant 2078/6643 2059/6486 687/2161 I/L Atc/Ctc 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 deleterious(0) benign(0.416) 16/23 PROSITE_profiles:PS50106,cd00992,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156 MODERATE 1 SNV 1 1 PASS ATG . . 50688957 KLK1 . GRCh38 chr19 50821844 50821844 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.74T>G p.Ile25Ser p.I25S ENST00000301420 2/5 60 50 9 38 38 0 KLK1,missense_variant,p.Ile25Ser,ENST00000301420,NM_002257.3;KLK15,downstream_gene_variant,,ENST00000326856,NM_001277081.1;KLK15,downstream_gene_variant,,ENST00000596931,NM_001277082.1;KLK15,downstream_gene_variant,,ENST00000598239,NM_017509.3;LINC01869,downstream_gene_variant,,ENST00000326989,;LINC01869,downstream_gene_variant,,ENST00000593632,;LINC01869,downstream_gene_variant,,ENST00000634979,;LINC01869,downstream_gene_variant,,ENST00000635639,;KLK1,3_prime_UTR_variant,,ENST00000593325,;KLK1,non_coding_transcript_exon_variant,,ENST00000593859,;KLK1,upstream_gene_variant,,ENST00000596300,;KLK15,downstream_gene_variant,,ENST00000596531,;KLK15,downstream_gene_variant,,ENST00000601680,;KLK15,downstream_gene_variant,,ENST00000602114,; C ENSG00000167748 ENST00000301420 Transcript missense_variant 110/866 74/789 25/262 I/S aTt/aGt 1 -1 KLK1 HGNC HGNC:6357 protein_coding YES CCDS12804.1 ENSP00000301420 P06870 A0A1R3UCD2 UPI000004CA0D NM_002257.3 deleterious(0) probably_damaging(0.969) 2/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR43890,hmmpanther:PTHR43890:SF10,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 MODERATE 1 SNV 1 1 PASS AAT . . 50821844 SIGLEC10 . GRCh38 chr19 51416009 51416009 + Missense_Mutation SNP G G T rs7258951 7316-329 BS_4RV40GPD G G c.913C>A p.Pro305Thr p.P305T ENST00000339313 5/11 48 41 6 27 27 0 SIGLEC10,missense_variant,p.Pro305Thr,ENST00000353836,NM_001171157.1;SIGLEC10,missense_variant,p.Pro247Thr,ENST00000441969,NM_001171159.1;SIGLEC10,missense_variant,p.Pro305Thr,ENST00000339313,NM_033130.4;SIGLEC10,missense_variant,p.Pro247Thr,ENST00000439889,NM_001171156.1;SIGLEC10,missense_variant,p.Pro257Thr,ENST00000436984,NM_001171158.1;SIGLEC10,missense_variant,p.Pro119Thr,ENST00000529627,;SIGLEC10,intron_variant,,ENST00000442846,NM_001171161.1;SIGLEC10,intron_variant,,ENST00000525998,NM_001322105.1;SIGLEC10,downstream_gene_variant,,ENST00000530476,;AC008750.2,non_coding_transcript_exon_variant,,ENST00000532688,NM_001256795.1;AC008750.2,non_coding_transcript_exon_variant,,ENST00000526996,;AC008750.1,downstream_gene_variant,,ENST00000532473,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000357375,;SIGLEC10,downstream_gene_variant,,ENST00000524527,;,regulatory_region_variant,,ENSR00000111184,; T ENSG00000142512 ENST00000339313 Transcript missense_variant 1030/2256 913/2094 305/697 P/T Ccc/Acc rs7258951,COSM4602660,COSM4602659 1 -1 SIGLEC10 HGNC HGNC:15620 protein_coding YES CCDS12832.1 ENSP00000345243 Q96LC7 UPI0000047E1A NM_033130.4 tolerated(1) benign(0.01) 5/11 PROSITE_profiles:PS50835,cd00096,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF68,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGT . . 0.009937 0.0124 0.003243 0.009911 0.01394 0.02469 0.009929 0.007641 0.003965 51416009 ZNF534 . GRCh38 chr19 52438970 52438970 + Missense_Mutation SNP C C A rs370491316 7316-329 BS_4RV40GPD C C c.1549C>A p.Arg517Ser p.R517S ENST00000332323 4/4 79 69 10 45 42 0 ZNF534,missense_variant,p.Arg517Ser,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Arg504Ser,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1; A ENSG00000198633 ENST00000332323 Transcript missense_variant 1610/2086 1549/2025 517/674 R/S Cgt/Agt rs370491316,COSM4468543 1 1 ZNF534 HGNC HGNC:26337 protein_coding YES CCDS46165.1 ENSP00000327538 Q76KX8 UPI0000351984 NM_001143939.1 tolerated(1) benign(0.005) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF187,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 5.46e-05 7.317e-05 0.000175 0.0001361 0.0006153 3.67e-05 52438970 ZNF28 . GRCh38 chr19 52799996 52799996 + Missense_Mutation SNP G G T novel 7316-329 BS_4RV40GPD G G c.1849C>A p.Arg617Ser p.R617S ENST00000457749 4/4 56 45 8 39 38 0 ZNF28,missense_variant,p.Arg564Ser,ENST00000438150,;ZNF28,missense_variant,p.Arg617Ser,ENST00000457749,NM_006969.3;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000596559,; T ENSG00000198538 ENST00000457749 Transcript missense_variant 1969/4556 1849/2157 617/718 R/S Cgt/Agt 1 -1 ZNF28 HGNC HGNC:13073 protein_coding YES CCDS33093.2 ENSP00000397693 P17035 UPI00001D8190 NM_006969.3 tolerated(1) benign(0.001) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF301,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CGG . . 52799996 EBF4 . GRCh38 chr20 2752516 2752516 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.1499A>C p.Asn500Thr p.N500T ENST00000380648 15/18 45 33 7 41 40 1 EBF4,missense_variant,p.Asn500Thr,ENST00000380648,NM_001110514.1;EBF4,missense_variant,p.Asn523Thr,ENST00000342725,;EBF4,missense_variant,p.Asn504Thr,ENST00000609451,;EBF4,intron_variant,,ENST00000463145,;EBF4,non_coding_transcript_exon_variant,,ENST00000491472,;EBF4,non_coding_transcript_exon_variant,,ENST00000481662,;EBF4,downstream_gene_variant,,ENST00000469215,;EBF4,upstream_gene_variant,,ENST00000477287,;EBF4,missense_variant,p.Asn500Thr,ENST00000449079,;EBF4,non_coding_transcript_exon_variant,,ENST00000609967,; C ENSG00000088881 ENST00000380648 Transcript missense_variant 1767/2910 1499/1797 500/598 N/T aAt/aCt 1 1 EBF4 HGNC HGNC:29278 protein_coding YES CCDS46573.1 ENSP00000370022 E9PEI2 UPI00001C2038 NM_001110514.1 tolerated_low_confidence(0.05) possibly_damaging(0.871) 15/18 hmmpanther:PTHR10747:SF36,hmmpanther:PTHR10747 MODERATE 1 SNV 5 PASS AAT . . 2752516 CENPB . GRCh38 chr20 3785631 3785631 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.853A>C p.Met285Leu p.M285L ENST00000379751 1/1 78 68 9 27 27 0 CENPB,missense_variant,p.Met285Leu,ENST00000379751,NM_001810.5;CDC25B,upstream_gene_variant,,ENST00000344256,NM_001287516.1,NM_001287517.1;CDC25B,upstream_gene_variant,,ENST00000379598,NM_001287518.1;SPEF1,upstream_gene_variant,,ENST00000379756,NM_015417.4;SPEF1,upstream_gene_variant,,ENST00000463490,;SPEF1,upstream_gene_variant,,ENST00000471499,; G ENSG00000125817 ENST00000379751 Transcript missense_variant 1060/2840 853/1800 285/599 M/L Atg/Ctg 1 -1 CENPB HGNC HGNC:1852 protein_coding YES CCDS13064.1 ENSP00000369075 P07199 UPI00001274F8 NM_001810.5 tolerated(0.22) benign(0.112) 1/1 Gene3D:2.130.10.10,Pfam_domain:PF03184,hmmpanther:PTHR45553 MODERATE SNV PASS ATT . . 3785631 LRRN4 . GRCh38 chr20 6052333 6052333 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.467A>C p.Asn156Thr p.N156T ENST00000378858 2/5 67 57 9 34 32 0 LRRN4,missense_variant,p.Asn156Thr,ENST00000378858,NM_152611.4;,regulatory_region_variant,,ENSR00000134139,; G ENSG00000125872 ENST00000378858 Transcript missense_variant 692/2692 467/2223 156/740 N/T aAt/aCt 1 -1 LRRN4 HGNC HGNC:16208 protein_coding YES CCDS13097.1 ENSP00000368135 Q8WUT4 UPI000013CBD3 NM_152611.4 deleterious(0.02) probably_damaging(0.996) 2/5 Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF17,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS ATT . . 6052333 THBD . GRCh38 chr20 23048315 23048315 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.1190T>G p.Ile397Ser p.I397S ENST00000377103 1/1 89 74 14 31 30 0 THBD,missense_variant,p.Ile397Ser,ENST00000377103,NM_000361.2; C ENSG00000178726 ENST00000377103 Transcript missense_variant 1427/4109 1190/1728 397/575 I/S aTt/aGt 1 -1 THBD HGNC HGNC:11784 protein_coding YES CCDS13148.1 ENSP00000366307 P07204 UPI00000002BD NM_000361.2 tolerated(0.77) benign(0) 1/1 PDB-ENSP_mappings:1dqb.A,PDB-ENSP_mappings:1dx5.I,PDB-ENSP_mappings:1dx5.J,PDB-ENSP_mappings:1dx5.K,PDB-ENSP_mappings:1dx5.L,PDB-ENSP_mappings:1tmr.A,PDB-ENSP_mappings:1zaq.A,PDB-ENSP_mappings:3gis.X,PDB-ENSP_mappings:3gis.Y,PDB-ENSP_mappings:3gis.Z,PDB-ENSP_mappings:5to3.B,Gene3D:2.10.25.10,PIRSF_domain:PIRSF001775,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196,PROSITE_profiles:PS50026,hmmpanther:PTHR24036:SF5,hmmpanther:PTHR24036 MODERATE 1 SNV 1 PASS AAT . . 23048315 ACTR5 . GRCh38 chr20 38748659 38748659 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.181T>G p.Phe61Val p.F61V ENST00000243903 1/9 66 53 11 27 25 0 ACTR5,missense_variant,p.Phe61Val,ENST00000243903,NM_024855.3;,regulatory_region_variant,,ENSR00000137036,; G ENSG00000101442 ENST00000243903 Transcript missense_variant 218/2565 181/1824 61/607 F/V Ttc/Gtc 1 1 ACTR5 HGNC HGNC:14671 protein_coding YES CCDS13308.1 ENSP00000243903 Q9H9F9 UPI000006F9EF NM_024855.3 deleterious(0) benign(0.393) 1/9 cd00012,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF16,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067 MODERATE 1 SNV 1 PASS GTT . . 38748659 ZNF334 . GRCh38 chr20 46513412 46513412 + Splice_Region SNP T T G novel 7316-329 BS_4RV40GPD T T c.-41A>C ENST00000347606 1/5 61 51 10 29 29 0 ZNF334,splice_region_variant,,ENST00000347606,NM_018102.4;ZNF334,5_prime_UTR_variant,,ENST00000457685,;ZNF334,intron_variant,,ENST00000625284,NM_001270497.1;ZNF334,upstream_gene_variant,,ENST00000615481,NM_001353817.1,NM_001353821.1,NM_001353815.1,NM_001353816.1,NM_001353813.1,NM_001353818.1;,regulatory_region_variant,,ENSR00000137795,; G ENSG00000198185 ENST00000347606 Transcript splice_region_variant,5_prime_UTR_variant 143/3890 1 -1 ZNF334 HGNC HGNC:15806 protein_coding YES CCDS33480.1 ENSP00000255129 Q9HCZ1 UPI000004A0FE NM_018102.4 1/5 LOW 1 SNV 1 PASS GTT . . 46513412 OCSTAMP . GRCh38 chr20 46541838 46541838 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.1137A>C p.Gln379His p.Q379H ENST00000279028 3/3 55 47 7 17 15 0 OCSTAMP,missense_variant,p.Gln379His,ENST00000279028,NM_080721.2; G ENSG00000149635 ENST00000279028 Transcript missense_variant 1151/2043 1137/1701 379/566 Q/H caA/caC 1 -1 OCSTAMP HGNC HGNC:16116 protein_coding YES CCDS54468.1 ENSP00000279028 Q9BR26 UPI00006C1A90 NM_080721.2 tolerated(0.76) benign(0.005) 3/3 Pfam_domain:PF07782,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF3 MODERATE 1 SNV 5 PASS ATT . . 46541838 SOX18 . GRCh38 chr20 64049228 64049228 + Missense_Mutation SNP T T G novel 7316-329 BS_4RV40GPD T T c.289A>C p.Lys97Gln p.K97Q ENST00000340356 1/2 35 26 6 26 26 0 SOX18,missense_variant,p.Lys97Gln,ENST00000340356,NM_018419.2;TCEA2,upstream_gene_variant,,ENST00000475792,;,regulatory_region_variant,,ENSR00000140010,; G ENSG00000203883 ENST00000340356 Transcript missense_variant 414/1864 289/1155 97/384 K/Q Aag/Cag 1 -1 SOX18 HGNC HGNC:11194 protein_coding YES CCDS13552.1 ENSP00000341815 P35713 UPI0000001C70 NM_018419.2 deleterious(0) possibly_damaging(0.628) 1/2 Gene3D:1.10.30.10,Pfam_domain:PF00505,PROSITE_profiles:PS50118,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF204,SMART_domains:SM00398,Superfamily_domains:SSF47095,cd01388 MODERATE 1 SNV 1 1 PASS TTT . . 64049228 KRTAP10-6 . GRCh38 chr21 44591836 44591836 + Missense_Mutation SNP T T C rs9980630 7316-329 BS_4RV40GPD T T c.649A>G p.Thr217Ala p.T217A ENST00000400368 1/1 63 43 8 27 26 1 KRTAP10-6,missense_variant,p.Thr217Ala,ENST00000400368,NM_198688.3;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000622352,;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000188155 ENST00000400368 Transcript missense_variant 670/1238 649/1098 217/365 T/A Act/Gct rs9980630,COSM5950314 1 -1 KRTAP10-6 HGNC HGNC:20523 protein_coding YES CCDS42959.1 ENSP00000383219 P60371 UPI000021C43D NM_198688.3 tolerated(1) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF142,Pfam_domain:PF13885 0.1040 0.3018 0.0648 0.0595 0.0099 0.0072 0.106 0.0002326 0,1 MODERATE SNV 0,1 PASS GTT . . 0.01938 0.2375 0.03095 0.000543 0.0349 0.002014 0.0009344 0.009733 0.0009911 44591836 NPTXR . GRCh38 chr22 38843290 38843290 + Missense_Mutation SNP A A C novel 7316-329 BS_4RV40GPD A A c.569T>G p.Ile190Ser p.I190S ENST00000333039 1/5 60 47 10 24 24 0 NPTXR,missense_variant,p.Ile190Ser,ENST00000333039,NM_014293.3;NPTXR,missense_variant,p.Ile190Ser,ENST00000640136,;,regulatory_region_variant,,ENSR00000146233,; C ENSG00000221890 ENST00000333039 Transcript missense_variant 693/5784 569/1503 190/500 I/S aTt/aGt 1 -1 NPTXR HGNC HGNC:7954 protein_coding YES CCDS33647.1 ENSP00000327545 A0A1X7SBT7 UPI00001B0258 NM_014293.3 deleterious(0.01) benign(0.201) 1/5 Gene3D:1.20.120.330,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF94 MODERATE 1 SNV 1 PASS AAT . . 38843290 SBF1 . GRCh38 chr22 50474839 50474839 + Translation_Start_Site SNP A A C novel 7316-329 BS_4RV40GPD A A c.2T>G p.Met1? p.M1? ENST00000380817 1/41 68 53 7 33 30 0 SBF1,start_lost,p.Met1?,ENST00000380817,NM_002972.3;SBF1,start_lost,p.Met1?,ENST00000348911,;SBF1,non_coding_transcript_exon_variant,,ENST00000399627,;,regulatory_region_variant,,ENSR00000147732,; C ENSG00000100241 ENST00000380817 Transcript start_lost 186/8008 2/5682 1/1893 M/R aTg/aGg 1 -1 SBF1 HGNC HGNC:10542 protein_coding YES CCDS14091.2 ENSP00000370196 O95248 UPI00001D69ED NM_002972.3 deleterious(0) benign(0.143) 1/41 SMART_domains:SM00800 HIGH 1 SNV 1 1 PASS CAT . . 50474839 C3orf14 . GRCh38 chr3 62333251 62333251 + Splice_Region SNP C C T novel 7316-175 BS_YWHDJ7FE C C c.253-4C>T ENST00000494481 93 85 6 33 32 0 C3orf14,splice_region_variant,,ENST00000232519,NM_001291942.1;C3orf14,splice_region_variant,,ENST00000462069,NM_001291941.1;C3orf14,splice_region_variant,,ENST00000494481,NM_020685.4;C3orf14,splice_region_variant,,ENST00000542214,;C3orf14,downstream_gene_variant,,ENST00000465142,;PTPRG-AS1,intron_variant,,ENST00000490916,;PTPRG-AS1,intron_variant,,ENST00000495542,;,regulatory_region_variant,,ENSR00000304343,; T ENSG00000114405 ENST00000494481 Transcript splice_region_variant,intron_variant 1 1 C3orf14 HGNC HGNC:25024 protein_coding YES CCDS2896.1 ENSP00000418086 Q9HBI5 A0A024R330 UPI00000729BA NM_020685.4 5/5 LOW 1 SNV 1 PASS TCC . . 62333251 MUCL3 . GRCh38 chr6 30950484 30950484 + Missense_Mutation SNP T T C rs781354067 7316-175 BS_YWHDJ7FE T T c.2020T>C p.Ser674Pro p.S674P ENST00000462446 2/3 66 50 13 46 44 2 MUCL3,missense_variant,p.Ser741Pro,ENST00000636043,;MUCL3,missense_variant,p.Ser674Pro,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; C ENSG00000168631 ENST00000462446 Transcript missense_variant 2048/5314 2020/4182 674/1393 S/P Tca/Cca rs781354067,COSM3252497 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.35) benign(0.003) 2/3 mobidb-lite,hmmpanther:PTHR22094 0,1 MODERATE SNV 5 0,1 1 PASS ATC . . 0.00132 0.002338 0.002924 0.0004011 0.003394 0.0008757 0.002918 0.001318 30950484 LAMA2 . GRCh38 chr6 128883308 128883308 + Missense_Mutation SNP G G T novel 7316-175 BS_YWHDJ7FE G G c.63G>T p.Gln21His p.Q21H ENST00000421865 1/65 73 59 11 28 28 0 LAMA2,missense_variant,p.Gln21His,ENST00000618192,;LAMA2,missense_variant,p.Gln21His,ENST00000617695,;LAMA2,missense_variant,p.Gln21His,ENST00000421865,NM_000426.3,NM_001079823.1;LAMA2,upstream_gene_variant,,ENST00000466230,;,regulatory_region_variant,,ENSR00000202534,; T ENSG00000196569 ENST00000421865 Transcript missense_variant 112/9640 63/9369 21/3122 Q/H caG/caT 1 1 LAMA2 HGNC HGNC:6482 protein_coding YES CCDS5138.1 ENSP00000400365 P24043 UPI00003673E0 NM_000426.3,NM_001079823.1 tolerated_low_confidence(0.07) benign(0.058) 1/65 hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS AGG . . 128883308 ZNF92 . GRCh38 chr7 65399230 65399230 + Missense_Mutation SNP T T A rs200450265 7316-175 BS_YWHDJ7FE T T c.1116T>A p.Asp372Glu p.D372E ENST00000328747 4/4 73 61 9 51 48 0 ZNF92,missense_variant,p.Asp372Glu,ENST00000328747,NM_152626.3;ZNF92,missense_variant,p.Asp340Glu,ENST00000357512,NM_001287532.1;ZNF92,missense_variant,p.Asp303Glu,ENST00000450302,NM_007139.3;ZNF92,missense_variant,p.Asp296Glu,ENST00000431504,NM_001287534.1,NM_001287533.1;,regulatory_region_variant,,ENSR00000212862,; A ENSG00000146757 ENST00000328747 Transcript missense_variant 1315/3210 1116/1761 372/586 D/E gaT/gaA rs200450265,COSM351636 1 1 ZNF92 HGNC HGNC:13168 protein_coding YES CCDS34646.1 ENSP00000332595 Q03936 V9HVY7 UPI0000073CE6 NM_152626.3 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 8.418e-06 3.156e-05 9.163e-06 65399230 EPPK1 . GRCh38 chr8 143858965 143858966 + In_Frame_Ins INS - - GCA rs1348026620 7316-175 BS_YWHDJ7FE - - c.14288_14289insTGC p.Ala4765dup p.A4765dup ENST00000615648 2/2 70 53 13 17 17 0 EPPK1,inframe_insertion,p.Ala4765dup,ENST00000615648,NM_031308.3;EPPK1,inframe_insertion,p.Ala4740dup,ENST00000568225,;,regulatory_region_variant,,ENSR00000333972,; GCA ENSG00000261150 ENST00000615648 Transcript inframe_insertion 14360-14361/16002 14288-14289/15267 4763/5088 A/AA gcc/gcTGCc rs1348026620 1 -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107 UPI0002065B93 NM_031308.3 2/2 Gene3D:3.90.1290.10,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 insertion 5 PASS CGG . . 143858965 FAM27C . GRCh38 chr9 61854380 61854380 + Splice_Region SNP A A G rs1484610343 7316-175 BS_YWHDJ7FE A A n.215+4A>G ENST00000377542 33 22 8 21 21 0 FAM27C,splice_region_variant,,ENST00000377542,;,regulatory_region_variant,,ENSR00000335460,;AL391987.6,upstream_gene_variant,,ENST00000305671,; G ENSG00000154537 ENST00000377542 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1484610343 1 1 FAM27C HGNC HGNC:23668 lincRNA YES 1/1 LOW 1 SNV 1 PASS GAG . . 61854380 FAM27C . GRCh38 chr9 61854383 61854383 + Splice_Region SNP C C T rs1187127825 7316-175 BS_YWHDJ7FE C C n.215+7C>T ENST00000377542 35 25 8 21 21 0 FAM27C,splice_region_variant,,ENST00000377542,;,regulatory_region_variant,,ENSR00000335460,;AL391987.6,upstream_gene_variant,,ENST00000305671,; T ENSG00000154537 ENST00000377542 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1187127825 1 1 FAM27C HGNC HGNC:23668 lincRNA YES 1/1 LOW 1 SNV 1 PASS TCT . . 61854383 TUBB8 . GRCh38 chr10 73969 73969 + Splice_Region SNP T T C rs1453529804 7316-175 BS_YWHDJ7FE T T c.-846A>G ENST00000564130 1/4 51 45 6 32 31 0 TUBB8,splice_region_variant,,ENST00000564130,;,regulatory_region_variant,,ENSR00000023287,; C ENSG00000261456 ENST00000564130 Transcript splice_region_variant,5_prime_UTR_variant 195/2438 rs1453529804 1 -1 TUBB8 HGNC HGNC:20773 protein_coding ENSP00000457610 Q5SQY0 UPI0000197C79 1/4 LOW 1 SNV 5 1 PASS CTT . . 73969 FBXW8 . GRCh38 chr12 116988750 116988750 + Missense_Mutation SNP G G A rs781570701 7316-175 BS_YWHDJ7FE G G c.1120G>A p.Glu374Lys p.E374K ENST00000309909 7/11 59 37 21 38 38 0 FBXW8,missense_variant,p.Glu308Lys,ENST00000455858,NM_012174.1;FBXW8,missense_variant,p.Glu374Lys,ENST00000309909,NM_153348.2;AC127164.1,upstream_gene_variant,,ENST00000548738,;FBXW8,downstream_gene_variant,,ENST00000551773,; A ENSG00000174989 ENST00000309909 Transcript missense_variant 1202/2343 1120/1797 374/598 E/K Gaa/Aaa rs781570701 1 1 FBXW8 HGNC HGNC:13597 protein_coding YES CCDS9182.1 ENSP00000310686 Q8N3Y1 UPI000019AB72 NM_153348.2 tolerated(0.07) benign(0.005) 7/11 hmmpanther:PTHR44571,Gene3D:2.130.10.10 MODERATE 1 SNV 1 PASS CGA . . 3.249e-05 0.0001307 5.956e-05 3.581e-05 116988750 TRPM7 . GRCh38 chr15 50580915 50580916 + Splice_Region INS - - A rs374182910 7316-175 BS_YWHDJ7FE - - c.4558-8dup ENST00000313478 77 60 9 47 43 0 TRPM7,splice_region_variant,,ENST00000313478,NM_017672.5;TRPM7,splice_region_variant,,ENST00000560955,NM_001301212.1;TRPM7,splice_region_variant,,ENST00000646667,;TRPM7,splice_region_variant,,ENST00000558444,;TRPM7,splice_region_variant,,ENST00000560849,;TRPM7,splice_region_variant,,ENST00000561443,;TRPM7,downstream_gene_variant,,ENST00000645282,; A ENSG00000092439 ENST00000313478 Transcript splice_region_variant,intron_variant rs374182910 1 -1 TRPM7 HGNC HGNC:17994 protein_coding YES CCDS42035.1 ENSP00000320239 Q96QT4 A0A024R5V1 UPI0000071CBA NM_017672.5 29/38 LOW 1 insertion 1 1 PASS GTA . . 0.029 0.07645 0.04613 0.03739 0.03611 0.02532 0.01824 0.03455 0.0244 50580915 MYO15B . GRCh38 chr17 75589426 75589426 + Missense_Mutation SNP T T G rs189417677 7316-175 BS_YWHDJ7FE T T c.1369T>G p.Tyr457Asp p.Y457D ENST00000610510 1/63 72 51 12 29 24 0 MYO15B,missense_variant,p.Tyr457Asp,ENST00000610510,NM_001309242.1;MYO15B,missense_variant,p.Tyr457Asp,ENST00000645453,;MYO15B,upstream_gene_variant,,ENST00000578564,;MYO15B,upstream_gene_variant,,ENST00000582561,;MYO15B,missense_variant,p.Tyr457Asp,ENST00000621743,;MYO15B,missense_variant,p.Tyr457Asp,ENST00000619501,;MYO15B,missense_variant,p.Tyr457Asp,ENST00000584516,;MYO15B,upstream_gene_variant,,ENST00000581612,;MYO15B,upstream_gene_variant,,ENST00000581866,;,regulatory_region_variant,,ENSR00000098410,; G ENSG00000266714 ENST00000610510 Transcript missense_variant 1369/9195 1369/9195 457/3064 Y/D Tac/Gac rs189417677 1 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000488624 A0A0J9YY01 UPI00064546F0 NM_001309242.1 tolerated_low_confidence(0.2) unknown(0) 1/63 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTA . . 75589426 SBSN . GRCh38 chr19 35527429 35527429 + Missense_Mutation SNP T T C rs200461580 7316-175 BS_YWHDJ7FE T T c.853A>G p.Thr285Ala p.T285A ENST00000452271 1/4 56 43 11 24 21 0 SBSN,missense_variant,p.Thr285Ala,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; C ENSG00000189001 ENST00000452271 Transcript missense_variant 882/1945 853/1773 285/590 T/A Act/Gct rs200461580,COSM4806568 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 tolerated(1) benign(0) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3 0.0557 0.0628 0.0389 0.0893 0.0706 0.0082 0.01734 0.0003143 0,1 MODERATE 1 SNV 1 0,1 PASS GTA . . 0.0008033 0.01124 0.0004255 0.0002408 0.0008385 0.0002256 0.0008352 0.0001716 35527429 UMODL1 . GRCh38 chr21 42111314 42111314 + Missense_Mutation SNP T T C rs771698890 7316-175 BS_YWHDJ7FE T T c.2092T>C p.Ser698Pro p.S698P ENST00000408989 11/22 71 53 7 28 25 0 UMODL1,missense_variant,p.Ser626Pro,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Ser698Pro,ENST00000408989,NM_173568.3;UMODL1,intron_variant,,ENST00000400424,NM_001199528.2;UMODL1,intron_variant,,ENST00000408910,NM_001004416.2;UMODL1-AS1,upstream_gene_variant,,ENST00000329015,;UMODL1,upstream_gene_variant,,ENST00000475047,; C ENSG00000177398 ENST00000408989 Transcript missense_variant 2092/5262 2092/4341 698/1446 S/P Tcc/Ccc rs771698890 1 1 UMODL1 HGNC HGNC:12560 protein_coding YES CCDS42935.1 ENSP00000386126 Q5DID0 UPI0000D6254B NM_173568.3 tolerated(0.31) benign(0) 11/22 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:2.40.155.10,hmmpanther:PTHR45146 MODERATE 1 SNV 1 PASS CTC . . 3.39e-05 0.0001646 0.000221 1.062e-05 0.000218 3.589e-05 42111314 ZNF74 . GRCh38 chr22 20405992 20405992 + Missense_Mutation SNP A A C 7316-175 BS_YWHDJ7FE A A c.959A>C p.Asn320Thr p.N320T ENST00000611540 6/6 94 74 12 36 34 0 ZNF74,missense_variant,p.Asn320Thr,ENST00000611540,NM_001256524.1;ZNF74,missense_variant,p.Asn320Thr,ENST00000400451,NM_001256525.1,NM_003426.3;ZNF74,missense_variant,p.Asn288Thr,ENST00000405993,;ZNF74,3_prime_UTR_variant,,ENST00000403682,NM_001256523.1;ZNF74,3_prime_UTR_variant,,ENST00000357502,;ZNF74,downstream_gene_variant,,ENST00000420626,;ZNF74,3_prime_UTR_variant,,ENST00000437275,;ZNF74,non_coding_transcript_exon_variant,,ENST00000476678,;ZNF74,non_coding_transcript_exon_variant,,ENST00000493734,; C ENSG00000185252 ENST00000611540 Transcript missense_variant 1245/3714 959/1935 320/644 N/T aAc/aCc COSM461151 1 1 ZNF74 HGNC HGNC:13144 protein_coding YES CCDS42982.1 ENSP00000483077 Q16587 UPI000020710C NM_001256524.1 tolerated(1) benign(0.419) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF336,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS AAC . . 20405992 KLHL17 . GRCh38 chr1 961343 961343 + Missense_Mutation SNP T T G rs911117701 7316-882 BS_9HYDMBBW T T c.158T>G p.Met53Arg p.M53R ENST00000338591 2/12 99 72 17 28 28 0 KLHL17,missense_variant,p.Met53Arg,ENST00000338591,NM_198317.2;KLHL17,intron_variant,,ENST00000622660,;NOC2L,upstream_gene_variant,,ENST00000327044,NM_015658.3;NOC2L,upstream_gene_variant,,ENST00000487214,;KLHL17,upstream_gene_variant,,ENST00000463212,;KLHL17,upstream_gene_variant,,ENST00000466300,;NOC2L,upstream_gene_variant,,ENST00000469563,;NOC2L,upstream_gene_variant,,ENST00000477976,;KLHL17,upstream_gene_variant,,ENST00000481067,;,regulatory_region_variant,,ENSR00000000111,; G ENSG00000187961 ENST00000338591 Transcript missense_variant 265/2560 158/1929 53/642 M/R aTg/aGg rs911117701 1 1 KLHL17 HGNC HGNC:24023 protein_coding YES CCDS30550.1 ENSP00000343930 Q6TDP4 UPI00001DFBF0 NM_198317.2 deleterious(0.05) benign(0.255) 2/12 mobidb-lite,PIRSF_domain:PIRSF037037 MODERATE 1 SNV 1 PASS ATG . . 961343 HES4 . GRCh38 chr1 999867 999867 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.107A>C p.Lys36Thr p.K36T ENST00000428771 1/3 92 72 15 32 32 0 HES4,missense_variant,p.Lys36Thr,ENST00000428771,NM_001142467.1;HES4,missense_variant,p.Lys36Thr,ENST00000304952,NM_021170.3;HES4,missense_variant,p.Lys36Thr,ENST00000484667,;ISG15,upstream_gene_variant,,ENST00000624652,;ISG15,upstream_gene_variant,,ENST00000624697,;AL645608.8,upstream_gene_variant,,ENST00000606034,;HES4,non_coding_transcript_exon_variant,,ENST00000481869,;,regulatory_region_variant,,ENSR00000249807,; G ENSG00000188290 ENST00000428771 Transcript missense_variant 306/1040 107/744 36/247 K/T aAg/aCg 1 -1 HES4 HGNC HGNC:24149 protein_coding YES CCDS44034.1 ENSP00000393198 E9PB28 UPI0001881B51 NM_001142467.1 deleterious(0) probably_damaging(0.98) 1/3 hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF125,mobidb-lite MODERATE 1 SNV 2 PASS CTT . . 999867 MORN1 . GRCh38 chr1 2336831 2336831 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.1056T>G p.His352Gln p.H352Q ENST00000378531 11/14 112 98 9 35 35 0 MORN1,missense_variant,p.His352Gln,ENST00000378531,NM_024848.2;MORN1,non_coding_transcript_exon_variant,,ENST00000606372,;,regulatory_region_variant,,ENSR00000000330,; C ENSG00000116151 ENST00000378531 Transcript missense_variant 1230/1798 1056/1494 352/497 H/Q caT/caG 1 -1 MORN1 HGNC HGNC:25852 protein_coding YES CCDS40.1 ENSP00000367792 Q5T089 UPI000007293C NM_024848.2 tolerated(0.36) benign(0.001) 11/14 hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF123 MODERATE 1 SNV 2 PASS AAT . . 2336831 TP73 . GRCh38 chr1 3722181 3722181 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.590A>C p.His197Pro p.H197P ENST00000378295 5/14 85 69 15 31 30 0 TP73,missense_variant,p.His197Pro,ENST00000378295,NM_005427.3,NM_001204185.1;TP73,missense_variant,p.His148Pro,ENST00000378288,NM_001204190.1,NM_001126240.2,NM_001204191.1;TP73,missense_variant,p.His197Pro,ENST00000357733,NM_001204187.1;TP73,missense_variant,p.His197Pro,ENST00000346387,NM_001204188.1;TP73,missense_variant,p.His197Pro,ENST00000604074,NM_001204186.1;TP73,missense_variant,p.His197Pro,ENST00000354437,NM_001204184.1;TP73,missense_variant,p.His148Pro,ENST00000378285,NM_001126241.2;TP73,missense_variant,p.His148Pro,ENST00000378280,NM_001204189.1,NM_001126242.2;TP73,missense_variant,p.His126Pro,ENST00000378290,NM_001204192.1;TP73,missense_variant,p.His197Pro,ENST00000603362,;TP73,missense_variant,p.His197Pro,ENST00000604479,;TP73,non_coding_transcript_exon_variant,,ENST00000603364,; C ENSG00000078900 ENST00000378295 Transcript missense_variant 745/5188 590/1911 197/636 H/P cAc/cCc 1 1 TP73 HGNC HGNC:12003 protein_coding YES CCDS49.1 ENSP00000367545 O15350 A0A024R4C3 UPI000002E988 NM_005427.3,NM_001204185.1 deleterious(0) probably_damaging(0.932) 5/14 cd08367,hmmpanther:PTHR11447:SF21,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 MODERATE 1 SNV 1 1 PASS CAC . . 3722181 RAP1GAP . GRCh38 chr1 21669256 21669256 + Splice_Region SNP A A C novel 7316-882 BS_9HYDMBBW A A c.-151T>G ENST00000290101 1/27 96 78 13 27 27 0 RAP1GAP,splice_region_variant,,ENST00000290101,NM_001330383.2;RAP1GAP,splice_region_variant,,ENST00000542643,NM_001145657.1;RAP1GAP,splice_region_variant,,ENST00000374765,NM_002885.2,NM_001350527.1;RAP1GAP,splice_region_variant,,ENST00000317967,;RAP1GAP,splice_region_variant,,ENST00000464457,;RAP1GAP,upstream_gene_variant,,ENST00000482984,;RAP1GAP,splice_region_variant,,ENST00000611549,;,regulatory_region_variant,,ENSR00000002793,; C ENSG00000076864 ENST00000290101 Transcript splice_region_variant,5_prime_UTR_variant 108/3584 1 -1 RAP1GAP HGNC HGNC:9858 protein_coding ENSP00000290101 A0A0A0MQY8 UPI0000D61E79 NM_001330383.2 1/27 LOW SNV 5 PASS CAA . . 21669256 MYOM3 . GRCh38 chr1 24080120 24080120 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.2482A>C p.Met828Leu p.M828L ENST00000374434 20/37 85 75 8 39 39 0 MYOM3,missense_variant,p.Met828Leu,ENST00000374434,NM_152372.3;AL591178.2,intron_variant,,ENST00000429191,;AL591178.1,intron_variant,,ENST00000439239,;MYOM3,intron_variant,,ENST00000448831,;MYOM3,downstream_gene_variant,,ENST00000475306,; G ENSG00000142661 ENST00000374434 Transcript missense_variant 2645/5804 2482/4314 828/1437 M/L Atg/Ctg 1 -1 MYOM3 HGNC HGNC:26679 protein_coding YES CCDS41281.1 ENSP00000363557 Q5VTT5 UPI0000203A5D NM_152372.3 tolerated(0.07) benign(0) 20/37 PROSITE_profiles:PS50853,cd00063,hmmpanther:PTHR45585,hmmpanther:PTHR45585:SF1,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265 MODERATE 1 SNV 1 PASS ATA . . 24080120 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 63 34 13 22 21 0 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 FOXD3 . GRCh38 chr1 63323882 63323882 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.824A>C p.Tyr275Ser p.Y275S ENST00000371116 1/1 72 62 8 42 42 0 FOXD3,missense_variant,p.Tyr275Ser,ENST00000371116,NM_012183.2;MIR6068,downstream_gene_variant,,ENST00000615405,;FOXD3-AS1,intron_variant,,ENST00000427268,;FOXD3-AS1,upstream_gene_variant,,ENST00000418244,;FOXD3-AS1,upstream_gene_variant,,ENST00000426393,;FOXD3-AS1,upstream_gene_variant,,ENST00000431294,;FOXD3-AS1,upstream_gene_variant,,ENST00000449386,;,regulatory_region_variant,,ENSR00000007676,; C ENSG00000187140 ENST00000371116 Transcript missense_variant 842/2086 824/1437 275/478 Y/S tAc/tCc 1 1 FOXD3 HGNC HGNC:3804 protein_coding YES CCDS624.1 ENSP00000360157 Q9UJU5 UPI000012ADCB NM_012183.2 deleterious(0) possibly_damaging(0.905) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF162,Low_complexity_(Seg):seg MODERATE SNV 1 PASS TAC . . 63323882 FLG2 . GRCh38 chr1 152352835 152352835 + Missense_Mutation SNP A A T rs776296902 7316-882 BS_9HYDMBBW A A c.4951T>A p.Ser1651Thr p.S1651T ENST00000388718 3/3 73 65 7 47 47 0 FLG2,missense_variant,p.Ser1651Thr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 5024/9124 4951/7176 1651/2391 S/T Tct/Act rs776296902 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.24) benign(0.043) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS GAT . . 152352835 TOR1AIP1 . GRCh38 chr1 179882967 179882967 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.465T>G p.His155Gln p.H155Q ENST00000528443 1/10 84 68 13 53 53 0 TOR1AIP1,missense_variant,p.His155Gln,ENST00000606911,NM_015602.3;TOR1AIP1,missense_variant,p.His155Gln,ENST00000528443,NM_001267578.1;TOR1AIP1,missense_variant,p.His34Gln,ENST00000435319,;TOR1AIP1,missense_variant,p.His155Gln,ENST00000271583,;TOR1AIP1,missense_variant,p.His27Gln,ENST00000527391,;TOR1AIP1,missense_variant,p.His58Gln,ENST00000531630,;AL353708.3,upstream_gene_variant,,ENST00000610272,;TOR1AIP1,upstream_gene_variant,,ENST00000474875,;TOR1AIP1,upstream_gene_variant,,ENST00000524653,;TOR1AIP1,upstream_gene_variant,,ENST00000527867,;TOR1AIP1,upstream_gene_variant,,ENST00000531726,;TOR1AIP1,coding_sequence_variant,p.Ter1=,ENST00000529091,;,regulatory_region_variant,,ENSR00000016492,; G ENSG00000143337 ENST00000528443 Transcript missense_variant 926/3685 465/1755 155/584 H/Q caT/caG 1 1 TOR1AIP1 HGNC HGNC:29456 protein_coding YES CCDS65737.1 ENSP00000435365 Q5JTV8 UPI00004A3A74 NM_001267578.1 tolerated_low_confidence(0.44) benign(0.013) 1/10 hmmpanther:PTHR18843,hmmpanther:PTHR18843:SF6,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS ATT . . 179882967 CCSAP . GRCh38 chr1 229342184 229342184 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.282A>C p.Glu94Asp p.E94D ENST00000284617 2/4 78 62 11 42 42 0 CCSAP,missense_variant,p.Glu94Asp,ENST00000284617,NM_145257.4;CCSAP,missense_variant,p.Glu94Asp,ENST00000366687,;CCSAP,upstream_gene_variant,,ENST00000366686,;CCSAP,non_coding_transcript_exon_variant,,ENST00000483092,;,regulatory_region_variant,,ENSR00000021471,; G ENSG00000154429 ENST00000284617 Transcript missense_variant 360/5121 282/813 94/270 E/D gaA/gaC 1 -1 CCSAP HGNC HGNC:29578 protein_coding YES CCDS1577.1 ENSP00000284617 Q6IQ19 UPI0000071365 NM_145257.4 tolerated(0.46) benign(0.003) 2/4 Pfam_domain:PF15748,hmmpanther:PTHR31022,hmmpanther:PTHR31022:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 229342184 IRF2BP2 . GRCh38 chr1 234608840 234608840 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.655A>C p.Thr219Pro p.T219P ENST00000366609 1/2 88 74 12 35 33 1 IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366609,NM_182972.2;IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366610,NM_001077397.1;AL160408.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;,regulatory_region_variant,,ENSR00000257385,; G ENSG00000168264 ENST00000366609 Transcript missense_variant 686/4663 655/1764 219/587 T/P Acc/Ccc 1 -1 IRF2BP2 HGNC HGNC:21729 protein_coding YES CCDS1602.1 ENSP00000355568 Q7Z5L9 UPI000004FA32 NM_182972.2 tolerated(0.33) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18 MODERATE 1 SNV 1 1 PASS GTT . . 234608840 CCDC85A . GRCh38 chr2 56184626 56184626 + Translation_Start_Site SNP T T G novel 7316-882 BS_9HYDMBBW T T c.2T>G p.Met1? p.M1? ENST00000407595 1/6 95 73 15 45 45 0 CCDC85A,start_lost,p.Met1?,ENST00000407595,NM_001080433.1;AC011306.1,downstream_gene_variant,,ENST00000606639,;AC007743.1,splice_region_variant,,ENST00000596663,;AC007743.1,splice_region_variant,,ENST00000447423,;AC007743.1,intron_variant,,ENST00000432793,;AC007744.1,intron_variant,,ENST00000607540,;,regulatory_region_variant,,ENSR00000117429,; G ENSG00000055813 ENST00000407595 Transcript start_lost 504/3982 2/1662 1/553 M/R aTg/aGg 1 1 CCDC85A HGNC HGNC:29400 protein_coding YES CCDS46290.1 ENSP00000384040 Q96PX6 UPI00001C1DC1 NM_001080433.1 deleterious_low_confidence(0) benign(0.073) 1/6 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 56184626 SH3RF3 . GRCh38 chr2 109129982 109129982 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.442A>C p.Thr148Pro p.T148P ENST00000309415 1/10 96 79 13 42 40 1 SH3RF3,missense_variant,p.Thr148Pro,ENST00000309415,NM_001099289.2;SH3RF3-AS1,upstream_gene_variant,,ENST00000567491,;,regulatory_region_variant,,ENSR00000121445,; C ENSG00000172985 ENST00000309415 Transcript missense_variant 635/5803 442/2649 148/882 T/P Acg/Ccg 1 1 SH3RF3 HGNC HGNC:24699 protein_coding YES CCDS74557.1 ENSP00000309186 Q8TEJ3 UPI0000DD7AEA NM_001099289.2 tolerated(0.09) benign(0.001) 1/10 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:3.30.40.10,hmmpanther:PTHR44208,hmmpanther:PTHR44208:SF3 MODERATE 1 SNV 5 PASS CAC . . 109129982 UBR3 . GRCh38 chr2 169827637 169827637 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.130A>C p.Asn44His p.N44H ENST00000418381 1/39 85 70 9 39 39 0 UBR3,missense_variant,p.Asn44His,ENST00000272793,;UBR3,missense_variant,p.Asn44His,ENST00000418381,NM_172070.3;METTL5,upstream_gene_variant,,ENST00000260953,NM_014168.3;METTL5,upstream_gene_variant,,ENST00000308099,;METTL5,upstream_gene_variant,,ENST00000392640,NM_001293187.1;METTL5,upstream_gene_variant,,ENST00000409340,;METTL5,upstream_gene_variant,,ENST00000409837,;METTL5,upstream_gene_variant,,ENST00000409965,NM_001293186.1;METTL5,upstream_gene_variant,,ENST00000410097,;METTL5,upstream_gene_variant,,ENST00000538491,;METTL5,upstream_gene_variant,,ENST00000471560,;METTL5,upstream_gene_variant,,ENST00000537825,;,regulatory_region_variant,,ENSR00000126028,; C ENSG00000144357 ENST00000418381 Transcript missense_variant 130/7951 130/5667 44/1888 N/H Aac/Cac 1 1 UBR3 HGNC HGNC:30467 protein_coding YES CCDS2238.2 ENSP00000396068 Q6ZT12 UPI00015FA088 NM_172070.3 tolerated_low_confidence(0.21) benign(0.146) 1/39 MODERATE SNV 5 PASS CAA . . 169827637 RETREG2 . GRCh38 chr2 219178353 219178353 + Translation_Start_Site SNP A A C novel 7316-882 BS_9HYDMBBW A A c.1A>C p.Met1? p.M1? ENST00000430297 1/9 88 73 12 24 24 0 RETREG2,start_lost,p.Met1?,ENST00000430297,NM_024293.5;RETREG2,intron_variant,,ENST00000443757,;RETREG2,intron_variant,,ENST00000458520,NM_001321110.1,NM_001321109.1;CNPPD1,upstream_gene_variant,,ENST00000360507,NM_001321390.1,NM_015680.5,NM_001321391.1;CNPPD1,upstream_gene_variant,,ENST00000409789,NM_001321389.1;RETREG2,upstream_gene_variant,,ENST00000420189,;RETREG2,upstream_gene_variant,,ENST00000430747,;CNPPD1,upstream_gene_variant,,ENST00000451647,;RETREG2,upstream_gene_variant,,ENST00000452022,;CNPPD1,upstream_gene_variant,,ENST00000453038,;RETREG2,start_lost,p.Met1?,ENST00000273048,;RETREG2,start_lost,p.Met1?,ENST00000452293,;RETREG2,upstream_gene_variant,,ENST00000465672,;RETREG2,upstream_gene_variant,,ENST00000481925,;,regulatory_region_variant,,ENSR00000130512,; C ENSG00000144567 ENST00000430297 Transcript start_lost 137/4618 1/1632 1/543 M/L Atg/Ctg 1 1 RETREG2 HGNC HGNC:28450 protein_coding YES CCDS2434.1 ENSP00000395249 Q8NC44 UPI000013D996 NM_024293.5 deleterious_low_confidence(0) benign(0.088) 1/9 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS TAT . . 219178353 CMTM8 . GRCh38 chr3 32239105 32239105 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.133A>C p.Ile45Leu p.I45L ENST00000307526 1/4 80 65 10 42 42 0 CMTM8,missense_variant,p.Ile45Leu,ENST00000307526,NM_178868.4;CMTM8,missense_variant,p.Ile45Leu,ENST00000458535,NM_001320308.1;AC097639.1,upstream_gene_variant,,ENST00000565519,;,regulatory_region_variant,,ENSR00000150498,;AC097639.2,downstream_gene_variant,,ENST00000603159,; C ENSG00000170293 ENST00000307526 Transcript missense_variant 427/1174 133/522 45/173 I/L Atc/Ctc 1 1 CMTM8 HGNC HGNC:19179 protein_coding YES CCDS2652.1 ENSP00000307741 Q8IZV2 UPI000019745A NM_178868.4 tolerated(0.46) benign(0.009) 1/4 Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR22776:SF10,hmmpanther:PTHR22776,Pfam_domain:PF01284 MODERATE 1 SNV 1 PASS CAT . . 32239105 CELSR3 . GRCh38 chr3 48640536 48640536 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.9049T>G p.Tyr3017Asp p.Y3017D ENST00000164024 34/35 69 55 8 21 20 0 CELSR3,missense_variant,p.Tyr3017Asp,ENST00000164024,NM_001407.2;MIR4793,downstream_gene_variant,,ENST00000577502,;CELSR3,non_coding_transcript_exon_variant,,ENST00000498057,;CELSR3,non_coding_transcript_exon_variant,,ENST00000461362,;CELSR3,non_coding_transcript_exon_variant,,ENST00000470999,; C ENSG00000008300 ENST00000164024 Transcript missense_variant 9330/11956 9049/9939 3017/3312 Y/D Tac/Gac 1 -1 CELSR3 HGNC HGNC:3230 protein_coding YES CCDS2775.1 ENSP00000164024 Q9NYQ7 UPI00001AE5A6 NM_001407.2 deleterious_low_confidence(0.01) possibly_damaging(0.823) 34/35 hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38 MODERATE 1 SNV 1 PASS TAT . . 48640536 RBM15B . GRCh38 chr3 51391480 51391480 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.81A>C p.Glu27Asp p.E27D ENST00000563281 1/1 82 60 17 40 39 0 RBM15B,missense_variant,p.Glu27Asp,ENST00000563281,NM_013286.4;DCAF1,downstream_gene_variant,,ENST00000423656,NM_014703.2;DCAF1,downstream_gene_variant,,ENST00000504652,NM_001171904.1;MANF,downstream_gene_variant,,ENST00000528157,NM_006010.5;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;,regulatory_region_variant,,ENSR00000152421,; C ENSG00000259956 ENST00000563281 Transcript missense_variant 213/6641 81/2673 27/890 E/D gaA/gaC 1 1 RBM15B HGNC HGNC:24303 protein_coding YES CCDS33764.1 ENSP00000454545 Q8NDT2 UPI0000160BDE NM_013286.4 tolerated_low_confidence(0.55) benign(0.007) 1/1 Gene3D:3.30.70.330,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF40,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS AAC . . 51391480 HACD2 . GRCh38 chr3 123584989 123584989 + Missense_Mutation SNP A A C rs940386499 7316-882 BS_9HYDMBBW A A c.39T>G p.Asn13Lys p.N13K ENST00000383657 1/7 87 56 11 28 28 0 HACD2,missense_variant,p.Asn13Lys,ENST00000383657,NM_198402.3,NM_001329787.1,NM_001329786.1;HACD2,upstream_gene_variant,,ENST00000469317,;MYLK-AS1,upstream_gene_variant,,ENST00000463408,;MYLK-AS1,upstream_gene_variant,,ENST00000470449,;MYLK-AS1,upstream_gene_variant,,ENST00000485162,;,regulatory_region_variant,,ENSR00000157451,; C ENSG00000206527 ENST00000383657 Transcript missense_variant 197/4257 39/765 13/254 N/K aaT/aaG rs940386499 1 -1 HACD2 HGNC HGNC:9640 protein_coding YES CCDS46895.1 ENSP00000373153 Q6Y1H2 UPI0000160B26 NM_198402.3,NM_001329787.1,NM_001329786.1 tolerated_low_confidence(0.35) benign(0) 1/7 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAT . . 123584989 CHST13 . GRCh38 chr3 126542166 126542166 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.614T>G p.Val205Gly p.V205G ENST00000319340 3/3 102 90 8 22 22 0 CHST13,missense_variant,p.Val205Gly,ENST00000319340,NM_152889.2;CHST13,intron_variant,,ENST00000615522,;C3orf22,intron_variant,,ENST00000505070,;,regulatory_region_variant,,ENSR00000157856,; G ENSG00000180767 ENST00000319340 Transcript missense_variant 664/1789 614/1026 205/341 V/G gTt/gGt 1 1 CHST13 HGNC HGNC:21755 protein_coding YES CCDS3039.1 ENSP00000317404 Q8NET6 UPI00000492E5 NM_152889.2 deleterious(0) probably_damaging(0.987) 3/3 hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF57,Pfam_domain:PF03567 MODERATE 1 SNV 1 PASS GTT . . 126542166 SLC10A4 . GRCh38 chr4 48483814 48483814 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.253T>G p.Phe85Val p.F85V ENST00000273861 1/3 86 68 15 40 40 0 SLC10A4,missense_variant,p.Phe85Val,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168127,; G ENSG00000145248 ENST00000273861 Transcript missense_variant 472/1790 253/1314 85/437 F/V Ttc/Gtc 1 1 SLC10A4 HGNC HGNC:22980 protein_coding YES CCDS3482.1 ENSP00000273861 Q96EP9 UPI000006E8DB NM_152679.3 deleterious(0.02) benign(0) 1/3 hmmpanther:PTHR10361:SF41,hmmpanther:PTHR10361 MODERATE 1 SNV 1 PASS GTT . . 48483814 GSX2 . GRCh38 chr4 54100916 54100916 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.572T>G p.Met191Arg p.M191R ENST00000326902 1/2 108 92 11 32 31 0 GSX2,missense_variant,p.Met191Arg,ENST00000326902,;GSX2,missense_variant,p.Met191Arg,ENST00000611459,NM_133267.2;GSX2,intron_variant,,ENST00000503800,;AC058822.1,intron_variant,,ENST00000507166,;GSX2,splice_region_variant,,ENST00000548609,;GSX2,intron_variant,,ENST00000507839,;,regulatory_region_variant,,ENSR00000168465,; G ENSG00000180613 ENST00000326902 Transcript missense_variant,splice_region_variant 886/1812 572/915 191/304 M/R aTg/aGg 1 1 GSX2 HGNC HGNC:24959 protein_coding YES CCDS3494.1 ENSP00000319118 Q9BZM3 UPI0000141A63 deleterious(0.04) benign(0.005) 1/2 Gene3D:1.10.10.60,Superfamily_domains:SSF46689,hmmpanther:PTHR24326:SF170,hmmpanther:PTHR24326 MODERATE 1 SNV 1 PASS ATG . . 54100916 IGFBP7 . GRCh38 chr4 57110168 57110168 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.184A>C p.Met62Leu p.M62L ENST00000295666 1/5 81 67 13 46 44 2 IGFBP7,missense_variant,p.Met62Leu,ENST00000295666,NM_001553.2;IGFBP7,missense_variant,p.Met62Leu,ENST00000514062,NM_001253835.1;IGFBP7-AS1,intron_variant,,ENST00000499667,;IGFBP7-AS1,intron_variant,,ENST00000508328,;,regulatory_region_variant,,ENSR00000168735,; G ENSG00000163453 ENST00000295666 Transcript missense_variant 218/1427 184/849 62/282 M/L Atg/Ctg 1 -1 IGFBP7 HGNC HGNC:5476 protein_coding YES CCDS3512.1 ENSP00000295666 Q16270 UPI00000422D2 NM_001553.2 tolerated(0.63) benign(0) 1/5 PROSITE_profiles:PS51323,hmmpanther:PTHR14186:SF15,hmmpanther:PTHR14186,Pfam_domain:PF00219,PIRSF_domain:PIRSF018239,SMART_domains:SM00121,Superfamily_domains:SSF57184 MODERATE 1 SNV 1 1 PASS ATA . . 57110168 SH3D19 . GRCh38 chr4 151325352 151325352 + Translation_Start_Site SNP T T G novel 7316-882 BS_9HYDMBBW T T c.1A>C p.Met1? p.M1? ENST00000604030 1/20 93 79 11 40 40 0 SH3D19,start_lost,p.Met1?,ENST00000604030,;,regulatory_region_variant,,ENSR00000174770,; G ENSG00000109686 ENST00000604030 Transcript start_lost 281/5228 1/3144 1/1047 M/L Atg/Ctg 1 -1 SH3D19 HGNC HGNC:30418 protein_coding ENSP00000488951 A0A0U1RQE4 UPI00004133B2 deleterious_low_confidence(0) unknown(0) 1/20 mobidb-lite HIGH 1 SNV 5 PASS ATG . . 151325352 ANKDD1B . GRCh38 chr5 75611663 75611663 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.29A>C p.Gln10Pro p.Q10P ENST00000601380 1/14 86 71 11 30 30 0 ANKDD1B,missense_variant,p.Gln10Pro,ENST00000601380,NM_001276713.1;AC010245.2,downstream_gene_variant,,ENST00000606908,;ANKDD1B,non_coding_transcript_exon_variant,,ENST00000506596,;,regulatory_region_variant,,ENSR00000182695,; C ENSG00000189045 ENST00000601380 Transcript missense_variant 205/2569 29/1587 10/528 Q/P cAa/cCa 1 1 ANKDD1B HGNC HGNC:32525 protein_coding YES CCDS64180.1 ENSP00000471417 A6NHY2 UPI0002A4709F NM_001276713.1 tolerated_low_confidence(0.23) unknown(0) 1/14 Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAA . . 75611663 MCTP1 . GRCh38 chr5 95284192 95284192 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.384T>G p.His128Gln p.H128Q ENST00000515393 1/23 87 77 9 39 38 0 MCTP1,missense_variant,p.His128Gln,ENST00000515393,NM_024717.5;MCTP1,upstream_gene_variant,,ENST00000503301,;,regulatory_region_variant,,ENSR00000184164,; C ENSG00000175471 ENST00000515393 Transcript missense_variant 384/5396 384/3000 128/999 H/Q caT/caG 1 -1 MCTP1 HGNC HGNC:26183 protein_coding YES CCDS34203.1 ENSP00000424126 Q6DN14 UPI0000D6165C NM_024717.5 deleterious_low_confidence(0.04) possibly_damaging(0.55) 1/23 mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 95284192 CAST . GRCh38 chr5 96662494 96662494 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.72T>G p.His24Gln p.H24Q ENST00000395812 1/30 68 53 11 36 36 0 CAST,missense_variant,p.His24Gln,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Gln,ENST00000508830,;CAST,missense_variant,p.His24Gln,ENST00000510756,;CAST,missense_variant,p.His24Gln,ENST00000511097,;CAST,missense_variant,p.His24Gln,ENST00000421689,;CAST,missense_variant,p.His7Gln,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; G ENSG00000153113 ENST00000395812 Transcript missense_variant 258/4506 72/2253 24/750 H/Q caT/caG 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 tolerated_low_confidence(1) benign(0) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS ATG . . 96662494 PRDM6 . GRCh38 chr5 123090417 123090417 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.403A>C p.Lys135Gln p.K135Q ENST00000407847 2/8 78 63 8 31 29 0 PRDM6,missense_variant,p.Lys135Gln,ENST00000407847,NM_001136239.1;AC106786.1,upstream_gene_variant,,ENST00000442777,;AC106786.1,upstream_gene_variant,,ENST00000458103,; C ENSG00000061455 ENST00000407847 Transcript missense_variant 817/9267 403/1788 135/595 K/Q Aag/Cag 1 1 PRDM6 HGNC HGNC:9350 protein_coding YES CCDS47259.1 ENSP00000384725 Q9NQX0 UPI0001610E83 NM_001136239.1 tolerated_low_confidence(0.36) possibly_damaging(0.788) 2/8 hmmpanther:PTHR44700 MODERATE SNV 5 1 PASS CAA . . 123090417 RNF44 . GRCh38 chr5 176530898 176530898 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.589A>C p.Met197Leu p.M197L ENST00000274811 5/11 39 33 6 22 17 0 RNF44,missense_variant,p.Met197Leu,ENST00000274811,NM_014901.4;RNF44,upstream_gene_variant,,ENST00000506378,;RNF44,downstream_gene_variant,,ENST00000509404,;RNF44,3_prime_UTR_variant,,ENST00000513029,;RNF44,downstream_gene_variant,,ENST00000504160,;RNF44,downstream_gene_variant,,ENST00000504434,;RNF44,upstream_gene_variant,,ENST00000508478,;RNF44,upstream_gene_variant,,ENST00000515051,; G ENSG00000146083 ENST00000274811 Transcript missense_variant 1114/4155 589/1299 197/432 M/L Atg/Ctg 1 -1 RNF44 HGNC HGNC:19180 protein_coding YES CCDS4404.1 ENSP00000274811 Q7L0R7 A0A024R7Q1 UPI0000073CDA NM_014901.4 tolerated(1) benign(0) 5/11 hmmpanther:PTHR14155,hmmpanther:PTHR14155:SF79 MODERATE 1 SNV 1 PASS ATG . . 176530898 PRRC2A . GRCh38 chr6 31631332 31631332 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.2659A>C p.Lys887Gln p.K887Q ENST00000376033 16/31 100 82 13 40 40 0 PRRC2A,missense_variant,p.Lys887Gln,ENST00000376033,NM_004638.3;PRRC2A,missense_variant,p.Lys887Gln,ENST00000376007,NM_080686.2;MIR6832,upstream_gene_variant,,ENST00000616110,;PRRC2A,downstream_gene_variant,,ENST00000469577,;PRRC2A,upstream_gene_variant,,ENST00000460302,;PRRC2A,downstream_gene_variant,,ENST00000464890,;PRRC2A,upstream_gene_variant,,ENST00000469501,;PRRC2A,downstream_gene_variant,,ENST00000483470,;PRRC2A,upstream_gene_variant,,ENST00000484787,;PRRC2A,upstream_gene_variant,,ENST00000487089,;PRRC2A,upstream_gene_variant,,ENST00000487839,;PRRC2A,upstream_gene_variant,,ENST00000492691,; C ENSG00000204469 ENST00000376033 Transcript missense_variant 2893/6893 2659/6474 887/2157 K/Q Aag/Cag 1 1 PRRC2A HGNC HGNC:13918 protein_coding YES CCDS4708.1 ENSP00000365201 P48634 A0A1U9X974 UPI000020E56F NM_004638.3 tolerated(0.08) benign(0.003) 16/31 hmmpanther:PTHR14038,hmmpanther:PTHR14038:SF5,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAA . . 31631332 C6orf132 . GRCh38 chr6 42106567 42106567 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.1345A>C p.Ser449Arg p.S449R ENST00000341865 4/5 72 50 12 31 29 0 C6orf132,missense_variant,p.Ser449Arg,ENST00000341865,NM_001164446.2;,regulatory_region_variant,,ENSR00000196928,; G ENSG00000188112 ENST00000341865 Transcript missense_variant 1345/6210 1345/3567 449/1188 S/R Agc/Cgc 1 -1 C6orf132 HGNC HGNC:21288 protein_coding YES CCDS47428.1 ENSP00000341368 Q5T0Z8 UPI0001A5E4A3 NM_001164446.2 deleterious_low_confidence(0) possibly_damaging(0.45) 4/5 hmmpanther:PTHR35077,hmmpanther:PTHR35077:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTG . . 42106567 SRF . GRCh38 chr6 43171796 43171796 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.140A>C p.Asn47Thr p.N47T ENST00000265354 1/7 81 67 13 47 43 2 SRF,missense_variant,p.Asn47Thr,ENST00000265354,NM_001292001.1,NM_003131.3;,regulatory_region_variant,,ENSR00000197100,; C ENSG00000112658 ENST00000265354 Transcript missense_variant 498/4202 140/1527 47/508 N/T aAt/aCt 1 1 SRF HGNC HGNC:11291 protein_coding YES CCDS4889.1 ENSP00000265354 P11831 A0A024RD16 UPI0000135F3B NM_001292001.1,NM_003131.3 deleterious_low_confidence(0) benign(0.007) 1/7 mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 43171796 C6orf141 . GRCh38 chr6 49550935 49550935 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.143A>C p.Asn48Thr p.N48T ENST00000529246 1/1 67 54 12 38 37 0 C6orf141,missense_variant,p.Asn48Thr,ENST00000529246,NM_001145652.1;C6orf141,upstream_gene_variant,,ENST00000424426,;C6orf141,missense_variant,p.Asn48Thr,ENST00000371194,;C6orf141,missense_variant,p.Asn48Thr,ENST00000414696,;C6orf141,upstream_gene_variant,,ENST00000415078,;C6orf141,upstream_gene_variant,,ENST00000526429,;C6orf141,upstream_gene_variant,,ENST00000530382,;,regulatory_region_variant,,ENSR00000197764,; C ENSG00000197261 ENST00000529246 Transcript missense_variant 290/1450 143/735 48/244 N/T aAt/aCt 1 1 C6orf141 HGNC HGNC:21351 protein_coding YES CCDS55018.1 ENSP00000434602 Q5SZD1 UPI000013E9DC NM_001145652.1 tolerated(0.17) benign(0.038) 1/1 mobidb-lite,hmmpanther:PTHR36880 MODERATE 1 SNV PASS AAT . . 49550935 SOGA3 . GRCh38 chr6 127516064 127516064 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.551A>C p.Glu184Ala p.E184A ENST00000525778 2/7 70 54 12 33 30 1 SOGA3,missense_variant,p.Glu184Ala,ENST00000525778,NM_001012279.2;SOGA3,missense_variant,p.Glu184Ala,ENST00000465909,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;AL096711.2,missense_variant,p.Glu184Ala,ENST00000481848,;,regulatory_region_variant,,ENSR00000202443,; G ENSG00000214338 ENST00000525778 Transcript missense_variant 1297/4077 551/2844 184/947 E/A gAg/gCg 1 -1 SOGA3 HGNC HGNC:21494 protein_coding YES CCDS43505.1 ENSP00000434570 Q5TF21 UPI0000419273 NM_001012279.2 tolerated_low_confidence(0.5) benign(0.062) 2/7 hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTC . . 127516064 PEX7 . GRCh38 chr6 136822784 136822784 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.119A>C p.Tyr40Ser p.Y40S ENST00000318471 1/10 94 75 13 31 31 0 PEX7,missense_variant,p.Tyr40Ser,ENST00000318471,NM_000288.3;PEX7,missense_variant,p.Tyr40Ser,ENST00000541292,;PEX7,missense_variant,p.Tyr40Ser,ENST00000367756,;,regulatory_region_variant,,ENSR00000203552,; C ENSG00000112357 ENST00000318471 Transcript missense_variant 200/1464 119/972 40/323 Y/S tAc/tCc 1 1 PEX7 HGNC HGNC:8860 protein_coding YES CCDS5180.1 ENSP00000315680 O00628 Q6FGN1 UPI00001316F3 NM_000288.3 deleterious(0) probably_damaging(0.998) 1/10 Gene3D:2.130.10.10,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF188 MODERATE 1 SNV 1 1 PASS TAC . . 136822784 FBXO5 . GRCh38 chr6 152982858 152982858 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.102T>G p.Asp34Glu p.D34E ENST00000229758 1/5 94 74 12 33 33 0 FBXO5,missense_variant,p.Asp34Glu,ENST00000229758,NM_012177.3;FBXO5,intron_variant,,ENST00000367241,NM_001142522.1;MTRF1L,downstream_gene_variant,,ENST00000367230,NM_001301047.2;MTRF1L,downstream_gene_variant,,ENST00000367231,NM_001114184.2;MTRF1L,downstream_gene_variant,,ENST00000367233,NM_019041.6,NM_001301870.1;MTRF1L,downstream_gene_variant,,ENST00000414771,NM_001301871.1;AL080276.2,upstream_gene_variant,,ENST00000442269,;AL080276.2,upstream_gene_variant,,ENST00000637995,;MTRF1L,downstream_gene_variant,,ENST00000461949,;MTRF1L,downstream_gene_variant,,ENST00000464135,;MTRF1L,downstream_gene_variant,,ENST00000485512,;,regulatory_region_variant,,ENSR00000205457,; C ENSG00000112029 ENST00000229758 Transcript missense_variant,splice_region_variant 161/2037 102/1344 34/447 D/E gaT/gaG 1 -1 FBXO5 HGNC HGNC:13584 protein_coding YES CCDS5242.1 ENSP00000229758 Q9UKT4 UPI000012A585 NM_012177.3 tolerated_low_confidence(0.21) benign(0.003) 1/5 MODERATE 1 SNV 1 PASS TAT . . 152982858 AC187653.1 . GRCh38 chr7 291190 291190 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.404A>C p.Lys135Thr p.K135T ENST00000506382 3/3 48 34 12 25 24 0 AC187653.1,missense_variant,p.Lys135Thr,ENST00000506382,NM_001195127.1;AC187653.1,upstream_gene_variant,,ENST00000510017,;,regulatory_region_variant,,ENSR00000207406,; C ENSG00000248767 ENST00000506382 Transcript missense_variant 404/702 404/702 135/233 K/T aAg/aCg 1 1 AC187653.1 Clone_based_ensembl_gene protein_coding YES ENSP00000492766 A0A1W2PRP0 UPI0001E112A0 NM_001195127.1 tolerated(0.12) possibly_damaging(0.734) 3/3 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF211,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AAG . . 291190 GLCCI1 . GRCh38 chr7 7969472 7969472 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.122A>C p.Asn41Thr p.N41T ENST00000223145 1/8 42 31 8 34 34 0 GLCCI1,missense_variant,p.Asn41Thr,ENST00000223145,NM_138426.3;GLCCI1,upstream_gene_variant,,ENST00000414914,;GLCCI1,upstream_gene_variant,,ENST00000430798,;UMAD1,downstream_gene_variant,,ENST00000482067,;AC006042.2,intron_variant,,ENST00000428660,;AC007161.3,intron_variant,,ENST00000469183,;GLCCI1,upstream_gene_variant,,ENST00000470583,;GLCCI1,upstream_gene_variant,,ENST00000474269,;GLCCI1,upstream_gene_variant,,ENST00000460897,;GLCCI1,upstream_gene_variant,,ENST00000492797,;,regulatory_region_variant,,ENSR00000324743,; C ENSG00000106415 ENST00000223145 Transcript missense_variant 679/4743 122/1644 41/547 N/T aAc/aCc 1 1 GLCCI1 HGNC HGNC:18713 protein_coding YES CCDS34601.1 ENSP00000223145 Q86VQ1 UPI00001907F7 NM_138426.3 deleterious_low_confidence(0.02) benign(0.005) 1/8 hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 7969472 AEBP1 . GRCh38 chr7 44106879 44106879 + Missense_Mutation SNP A A C rs767818858 7316-882 BS_9HYDMBBW A A c.587A>C p.Gln196Pro p.Q196P ENST00000223357 2/21 71 60 8 40 39 1 AEBP1,missense_variant,p.Gln196Pro,ENST00000223357,NM_001129.4;AEBP1,missense_variant,p.Gln154Pro,ENST00000455443,;AEBP1,missense_variant,p.Gln112Pro,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000450684,;MIR4649,upstream_gene_variant,,ENST00000582839,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;AEBP1,upstream_gene_variant,,ENST00000434445,;AEBP1,upstream_gene_variant,,ENST00000453052,; C ENSG00000106624 ENST00000223357 Transcript missense_variant 892/4081 587/3477 196/1158 Q/P cAg/cCg rs767818858 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 tolerated_low_confidence(0.08) benign(0) 2/21 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF48 MODERATE 1 SNV 1 PASS CAG . . 0.0001395 8.108e-05 2.559e-05 0.0002597 0.000799 44106879 NPC1L1 . GRCh38 chr7 44518669 44518670 + Splice_Region INS - - A rs374773929 7316-882 BS_9HYDMBBW - - c.3137-4dup ENST00000289547 73 48 14 44 34 0 NPC1L1,splice_region_variant,,ENST00000289547,NM_013389.2;NPC1L1,intron_variant,,ENST00000381160,NM_001101648.1;NPC1L1,intron_variant,,ENST00000546276,; A ENSG00000015520 ENST00000289547 Transcript splice_region_variant,intron_variant rs374773929,TMP_ESP_7_44558269_44558270 1 -1 NPC1L1 HGNC HGNC:7898 protein_coding YES CCDS5491.1 ENSP00000289547 Q9UHC9 UPI000013DF88 NM_013389.2 14/19 0.1241 0.1008 LOW 1 insertion 1 PASS TCA . . 0.1429 0.1673 0.1604 0.1375 0.1678 0.1121 0.1391 0.1248 0.1203 44518669 SRRM3 . GRCh38 chr7 76235209 76235209 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.143A>C p.Lys48Thr p.K48T ENST00000611745 2/15 88 59 20 29 28 0 SRRM3,missense_variant,p.Lys48Thr,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,non_coding_transcript_exon_variant,,ENST00000479294,;,regulatory_region_variant,,ENSR00000213884,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 350/3612 143/1962 48/653 K/T aAg/aCg 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 deleterious(0.03) probably_damaging(1) 2/15 hmmpanther:PTHR45041,mobidb-lite MODERATE 1 SNV 5 PASS AAG . . 76235209 SRRM3 . GRCh38 chr7 76281495 76281495 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.1063A>C p.Thr355Pro p.T355P ENST00000611745 12/15 41 30 11 21 21 0 SRRM3,missense_variant,p.Thr355Pro,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,downstream_gene_variant,,ENST00000479284,;SRRM3,upstream_gene_variant,,ENST00000612155,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 1270/3612 1063/1962 355/653 T/P Acg/Ccg 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 tolerated(0.09) probably_damaging(0.934) 12/15 hmmpanther:PTHR45041,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAC . . 76281495 TRBV6-5 . GRCh38 chr7 142451194 142451194 + Missense_Mutation SNP G G C rs752089304 7316-882 BS_9HYDMBBW G G c.90G>C p.Gln30His p.Q30H ENST00000390368 2/2 66 58 7 25 24 0 TRBV6-5,missense_variant,p.Gln30His,ENST00000390368,;TRBV7-4,upstream_gene_variant,,ENST00000390369,; C ENSG00000211721 ENST00000390368 Transcript missense_variant 156/410 90/344 30/114 Q/H caG/caC rs752089304 1 1 TRBV6-5 HGNC HGNC:12230 TR_V_gene YES ENSP00000374891 A0A0K0K1A5 UPI0003F48115 tolerated(0.55) benign(0.005) 2/2 PDB-ENSP_mappings:1ao7.E,PDB-ENSP_mappings:1bd2.E,PDB-ENSP_mappings:2bnq.E,PDB-ENSP_mappings:2bnr.E,PDB-ENSP_mappings:2bnu.B,PDB-ENSP_mappings:4wwk.B MODERATE 1 SNV PASS AGG . . 142451194 REPIN1 . GRCh38 chr7 150372451 150372451 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.1381A>C p.Thr461Pro p.T461P ENST00000489432 3/3 106 91 10 30 30 0 REPIN1,missense_variant,p.Thr404Pro,ENST00000397281,NM_013400.3;REPIN1,missense_variant,p.Thr404Pro,ENST00000444957,NM_001099696.2;REPIN1,missense_variant,p.Thr404Pro,ENST00000425389,NM_014374.3;REPIN1,missense_variant,p.Thr461Pro,ENST00000489432,NM_001099695.1;REPIN1,3_prime_UTR_variant,,ENST00000479668,;AC073111.3,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000466559,;REPIN1,downstream_gene_variant,,ENST00000475514,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000488943,;REPIN1,downstream_gene_variant,,ENST00000518514,;REPIN1,downstream_gene_variant,,ENST00000519397,;AC005586.1,intron_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000473391,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000487455,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000522266,; C ENSG00000214022 ENST00000489432 Transcript missense_variant 1564/2058 1381/1875 461/624 T/P Acc/Ccc 1 1 REPIN1 HGNC HGNC:17922 protein_coding YES CCDS47745.1 ENSP00000417291 Q9BWE0 UPI0001596898 NM_001099695.1 tolerated(0.27) benign(0.152) 3/3 Gene3D:2.20.28.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24406,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CAC . . 150372451 ATG9B . GRCh38 chr7 151024059 151024059 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.365T>G p.Leu122Arg p.L122R ENST00000639579 1/17 81 53 12 44 43 0 ATG9B,missense_variant,p.Leu122Arg,ENST00000639579,;ATG9B,missense_variant,p.Leu122Arg,ENST00000469530,NM_001317056.1;ABCB8,upstream_gene_variant,,ENST00000297504,NM_001282291.1;ABCB8,upstream_gene_variant,,ENST00000358849,NM_007188.4;ABCB8,upstream_gene_variant,,ENST00000461373,;ABCB8,upstream_gene_variant,,ENST00000477092,;ABCB8,upstream_gene_variant,,ENST00000477719,;ABCB8,upstream_gene_variant,,ENST00000498578,NM_001282292.1;ABCB8,upstream_gene_variant,,ENST00000542328,NM_001282293.1;AC010973.1,downstream_gene_variant,,ENST00000479085,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473409,;ATG9B,intron_variant,,ENST00000466157,;ATG9B,intron_variant,,ENST00000617967,;ABCB8,upstream_gene_variant,,ENST00000466956,;ABCB8,upstream_gene_variant,,ENST00000469410,;ABCB8,upstream_gene_variant,,ENST00000471796,;ABCB8,upstream_gene_variant,,ENST00000472698,;ABCB8,upstream_gene_variant,,ENST00000488370,;ABCB8,upstream_gene_variant,,ENST00000488826,;ATG9B,missense_variant,p.Leu122Arg,ENST00000605952,;ABCB8,upstream_gene_variant,,ENST00000462605,;ABCB8,upstream_gene_variant,,ENST00000466514,;ABCB8,upstream_gene_variant,,ENST00000470645,;ATG9B,upstream_gene_variant,,ENST00000473134,;ABCB8,upstream_gene_variant,,ENST00000482309,;ABCB8,upstream_gene_variant,,ENST00000488551,;ABCB8,upstream_gene_variant,,ENST00000489192,; C ENSG00000181652 ENST00000639579 Transcript missense_variant 441/4539 365/2775 122/924 L/R cTg/cGg 1 -1 ATG9B HGNC HGNC:21899 protein_coding YES CCDS83242.1 ENSP00000491504 Q674R7 UPI00004286C0 deleterious_low_confidence(0) benign(0.282) 1/17 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 151024059 MFHAS1 . GRCh38 chr8 8892736 8892736 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.323A>C p.Glu108Ala p.E108A ENST00000276282 1/3 55 33 9 33 32 0 MFHAS1,missense_variant,p.Glu108Ala,ENST00000276282,NM_004225.2;RNU6-682P,upstream_gene_variant,,ENST00000363843,;,regulatory_region_variant,,ENSR00000220826,; G ENSG00000147324 ENST00000276282 Transcript missense_variant 910/6414 323/3159 108/1052 E/A gAg/gCg 1 -1 MFHAS1 HGNC HGNC:16982 protein_coding YES CCDS34844.1 ENSP00000276282 Q9Y4C4 UPI000013DAB6 NM_004225.2 tolerated(0.12) benign(0.015) 1/3 Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR44393,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS CTC . . 8892736 SLC35G5 . GRCh38 chr8 11332082 11332082 + Missense_Mutation SNP C C T rs62488717 7316-882 BS_9HYDMBBW C C c.976C>T p.Arg326Trp p.R326W ENST00000382435 1/1 82 72 8 36 36 0 SLC35G5,missense_variant,p.Arg326Trp,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; T ENSG00000177710 ENST00000382435 Transcript missense_variant 1195/1321 976/1017 326/338 R/W Cgg/Tgg rs62488717,COSM3718698 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.17) benign(0) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 MODERATE SNV 0,1 PASS CCG . . 0.2934 0.1711 0.2975 0.3221 0.2793 0.3895 0.2956 0.2607 0.2856 11332082 FGFR1 . GRCh38 chr8 38414784 38414784 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.2065A>C p.Thr689Pro p.T689P ENST00000425967 15/19 84 73 10 36 33 0 FGFR1,missense_variant,p.Thr658Pro,ENST00000447712,NM_023110.2;FGFR1,missense_variant,p.Thr656Pro,ENST00000397091,NM_015850.3;FGFR1,missense_variant,p.Thr656Pro,ENST00000532791,NM_001174063.1;FGFR1,missense_variant,p.Thr689Pro,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Thr648Pro,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Thr569Pro,ENST00000356207,NM_001174066.1,NM_023105.2;FGFR1,missense_variant,p.Thr567Pro,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Thr656Pro,ENST00000397113,NM_001174065.1;FGFR1,missense_variant,p.Thr569Pro,ENST00000397103,;FGFR1,missense_variant,p.Thr656Pro,ENST00000397108,;FGFR1,3_prime_UTR_variant,,ENST00000341462,;FGFR1,3_prime_UTR_variant,,ENST00000619564,;FGFR1,upstream_gene_variant,,ENST00000526688,;FGFR1,missense_variant,p.Thr58Pro,ENST00000531196,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527114,;FGFR1,non_coding_transcript_exon_variant,,ENST00000533619,;FGFR1,downstream_gene_variant,,ENST00000466021,;FGFR1,downstream_gene_variant,,ENST00000487647,;FGFR1,downstream_gene_variant,,ENST00000524528,;FGFR1,downstream_gene_variant,,ENST00000527745,; G ENSG00000077782 ENST00000425967 Transcript missense_variant 2388/5375 2065/2562 689/853 T/P Acc/Ccc 1 -1 FGFR1 HGNC HGNC:3688 protein_coding YES CCDS55223.1 ENSP00000393312 P11362 UPI0001CE06A3 NM_001174067.1 deleterious(0.01) benign(0.158) 15/19 Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00219,Superfamily_domains:SSF56112,cd05098 MODERATE 1 SNV 1 1 PASS GTT . . 38414784 FGFR1 . GRCh38 chr8 38414789 38414789 + Missense_Mutation SNP T T A 7316-882 BS_9HYDMBBW T T c.2060A>T p.Lys687Met p.K687M ENST00000425967 15/19 87 77 9 37 35 0 FGFR1,missense_variant,p.Lys656Met,ENST00000447712,NM_023110.2;FGFR1,missense_variant,p.Lys654Met,ENST00000397091,NM_015850.3;FGFR1,missense_variant,p.Lys654Met,ENST00000532791,NM_001174063.1;FGFR1,missense_variant,p.Lys687Met,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Lys646Met,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Lys567Met,ENST00000356207,NM_001174066.1,NM_023105.2;FGFR1,missense_variant,p.Lys565Met,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Lys654Met,ENST00000397113,NM_001174065.1;FGFR1,missense_variant,p.Lys567Met,ENST00000397103,;FGFR1,missense_variant,p.Lys654Met,ENST00000397108,;FGFR1,3_prime_UTR_variant,,ENST00000341462,;FGFR1,3_prime_UTR_variant,,ENST00000619564,;FGFR1,upstream_gene_variant,,ENST00000526688,;FGFR1,missense_variant,p.Lys56Met,ENST00000531196,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527114,;FGFR1,non_coding_transcript_exon_variant,,ENST00000533619,;FGFR1,downstream_gene_variant,,ENST00000466021,;FGFR1,downstream_gene_variant,,ENST00000487647,;FGFR1,downstream_gene_variant,,ENST00000524528,;FGFR1,downstream_gene_variant,,ENST00000527745,; A ENSG00000077782 ENST00000425967 Transcript missense_variant 2383/5375 2060/2562 687/853 K/M aAg/aTg COSM4771556 1 -1 FGFR1 HGNC HGNC:3688 protein_coding YES CCDS55223.1 ENSP00000393312 P11362 UPI0001CE06A3 NM_001174067.1 deleterious(0) probably_damaging(0.999) 15/19 Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00219,Superfamily_domains:SSF56112,cd05098 1 MODERATE 1 SNV 1 1 1 PASS CTT . . 38414789 TIGD5 . GRCh38 chr8 143598586 143598586 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.683A>C p.Glu228Ala p.E228A ENST00000504548 1/1 63 46 7 50 49 1 TIGD5,missense_variant,p.Glu228Ala,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; C ENSG00000179886 ENST00000504548 Transcript missense_variant 752/5390 683/1929 228/642 E/A gAg/gCg 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 tolerated(0.2) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45428 MODERATE SNV PASS GAG . . 143598586 FBXL6 . GRCh38 chr8 144358104 144358104 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.344T>G p.Ile115Ser p.I115S ENST00000331890 1/9 102 85 13 40 38 1 FBXL6,missense_variant,p.Ile115Ser,ENST00000331890,NM_012162.3;FBXL6,missense_variant,p.Ile115Ser,ENST00000455319,NM_024555.5;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,upstream_gene_variant,,ENST00000329994,NM_024531.4;SLC52A2,upstream_gene_variant,,ENST00000402965,NM_001253815.1;SLC52A2,upstream_gene_variant,,ENST00000526338,;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000527078,;SLC52A2,upstream_gene_variant,,ENST00000530047,NM_001253816.1;SLC52A2,upstream_gene_variant,,ENST00000532887,;SLC52A2,upstream_gene_variant,,ENST00000534725,;TMEM249,upstream_gene_variant,,ENST00000562477,NM_001252404.2;TMEM249,upstream_gene_variant,,ENST00000565365,NM_001252402.2,NM_001280561.1;SLC52A2,upstream_gene_variant,,ENST00000643944,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530687,;SLC52A2,intron_variant,,ENST00000532815,;FBXL6,upstream_gene_variant,,ENST00000524909,;FBXL6,upstream_gene_variant,,ENST00000526524,;SLC52A2,upstream_gene_variant,,ENST00000526891,;FBXL6,upstream_gene_variant,,ENST00000527000,;SLC52A2,downstream_gene_variant,,ENST00000644270,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530142,;FBXL6,upstream_gene_variant,,ENST00000524492,;SLC52A2,upstream_gene_variant,,ENST00000526779,;FBXL6,upstream_gene_variant,,ENST00000529279,;AC233992.2,upstream_gene_variant,,ENST00000531225,;SLC52A2,upstream_gene_variant,,ENST00000533662,;TMEM249,upstream_gene_variant,,ENST00000561638,;,regulatory_region_variant,,ENSR00000232236,; C ENSG00000182325 ENST00000331890 Transcript missense_variant 409/1785 344/1620 115/539 I/S aTt/aGt 1 -1 FBXL6 HGNC HGNC:13603 protein_coding YES CCDS6422.1 ENSP00000330098 Q8N531 UPI0002064E15 NM_012162.3 deleterious(0) possibly_damaging(0.791) 1/9 Gene3D:3.80.10.10,Pfam_domain:PF12937,hmmpanther:PTHR44721,Superfamily_domains:SSF81383 MODERATE 1 SNV 1 PASS AAT . . 144358104 FOXB2 . GRCh38 chr9 77020322 77020322 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.668T>G p.Val223Gly p.V223G ENST00000376708 1/1 54 37 14 36 34 0 FOXB2,missense_variant,p.Val223Gly,ENST00000376708,NM_001013735.1; G ENSG00000204612 ENST00000376708 Transcript missense_variant 668/1299 668/1299 223/432 V/G gTg/gGg 1 1 FOXB2 HGNC HGNC:23315 protein_coding YES CCDS35045.1 ENSP00000365898 Q5VYV0 UPI00004588EE NM_001013735.1 tolerated_low_confidence(0.32) benign(0.001) 1/1 Low_complexity_(Seg):seg,Gene3D:3.40.50.1980,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF215 MODERATE 1 SNV PASS GTG . . 77020322 SLC31A2 . GRCh38 chr9 113151075 113151075 + Translation_Start_Site SNP A A C novel 7316-882 BS_9HYDMBBW A A c.1A>C p.Met1? p.M1? ENST00000259392 1/4 99 72 10 31 31 0 SLC31A2,start_lost,p.Met1?,ENST00000259392,NM_001860.2;SLC31A2,non_coding_transcript_exon_variant,,ENST00000490809,;SLC31A2,start_lost,p.Met1?,ENST00000374220,;,regulatory_region_variant,,ENSR00000240056,; C ENSG00000136867 ENST00000259392 Transcript start_lost 134/1785 1/432 1/143 M/L Atg/Ctg 1 1 SLC31A2 HGNC HGNC:11017 protein_coding YES CCDS6788.1 ENSP00000259392 O15432 Q53X94 UPI0000127EC4 NM_001860.2 tolerated(0.16) benign(0.044) 1/4 hmmpanther:PTHR12483,hmmpanther:PTHR12483:SF8 HIGH 1 SNV 1 PASS CAT . . 113151075 MEGF9 . GRCh38 chr9 120714240 120714240 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.119A>C p.Asn40Thr p.N40T ENST00000373930 1/6 100 82 14 38 36 0 MEGF9,missense_variant,p.Asn40Thr,ENST00000373930,NM_001080497.2;,regulatory_region_variant,,ENSR00000240796,; G ENSG00000106780 ENST00000373930 Transcript missense_variant 231/6298 119/1809 40/602 N/T aAt/aCt 1 -1 MEGF9 HGNC HGNC:3234 protein_coding YES CCDS48010.2 ENSP00000363040 Q9H1U4 UPI000045779F NM_001080497.2 deleterious_low_confidence(0) benign(0.221) 1/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF298 MODERATE 1 SNV 2 PASS ATT . . 120714240 PRRT1B . GRCh38 chr9 131554991 131554991 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.460T>G p.Phe154Val p.F154V ENST00000636672 2/4 83 71 12 47 44 0 PRRT1B,missense_variant,p.Phe154Val,ENST00000636672,;,regulatory_region_variant,,ENSR00000337992,; G ENSG00000283526 ENST00000636672 Transcript missense_variant 562/1312 460/792 154/263 F/V Ttc/Gtc 1 1 PRRT1B HGNC HGNC:53642 protein_coding YES ENSP00000490857 A0A1B0GWB2 UPI0007E52AFB tolerated_low_confidence(0.34) possibly_damaging(0.773) 2/4 hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF18,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTT . . 131554991 SLC2A6 . GRCh38 chr9 133473418 133473418 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.1219A>C p.Met407Leu p.M407L ENST00000371899 8/10 93 80 12 24 24 0 SLC2A6,missense_variant,p.Met407Leu,ENST00000371899,NM_017585.3;SLC2A6,intron_variant,,ENST00000371897,NM_001145099.1;CACFD1,downstream_gene_variant,,ENST00000291722,NM_001135775.2;CACFD1,downstream_gene_variant,,ENST00000316948,NM_017586.3;SLC2A6,downstream_gene_variant,,ENST00000414172,;SLC2A6,downstream_gene_variant,,ENST00000432868,;CACFD1,downstream_gene_variant,,ENST00000540581,NM_001242369.1;CACFD1,downstream_gene_variant,,ENST00000542192,NM_001242370.1;SLC2A6,non_coding_transcript_exon_variant,,ENST00000485978,;CACFD1,downstream_gene_variant,,ENST00000474734,; G ENSG00000160326 ENST00000371899 Transcript missense_variant 1297/2528 1219/1524 407/507 M/L Atg/Ctg 1 -1 SLC2A6 HGNC HGNC:11011 protein_coding YES CCDS6975.1 ENSP00000360966 Q9UGQ3 UPI0000001BE8 NM_017585.3 tolerated(0.34) benign(0.009) 8/10 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,cd06174,hmmpanther:PTHR23500:SF111,hmmpanther:PTHR23500,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473,Prints_domain:PR00171 MODERATE 1 SNV 1 PASS ATG . . 133473418 PPP1R26 . GRCh38 chr9 135487776 135487776 + Missense_Mutation SNP T T G rs774164019 7316-882 BS_9HYDMBBW T T c.3266T>G p.Phe1089Cys p.F1089C ENST00000356818 4/4 90 80 9 39 39 0 PPP1R26,missense_variant,p.Phe1089Cys,ENST00000356818,NM_014811.3;PPP1R26,missense_variant,p.Phe1089Cys,ENST00000401470,;PPP1R26,missense_variant,p.Phe1089Cys,ENST00000605286,;PPP1R26,missense_variant,p.Phe1089Cys,ENST00000604351,;PPP1R26,missense_variant,p.Phe1089Cys,ENST00000605660,;PPP1R26,intron_variant,,ENST00000602993,; G ENSG00000196422 ENST00000356818 Transcript missense_variant 3815/4932 3266/3630 1089/1209 F/C tTt/tGt rs774164019 1 1 PPP1R26 HGNC HGNC:29089 protein_coding YES CCDS6988.1 ENSP00000349274 Q5T8A7 UPI000013DB17 NM_014811.3 deleterious(0) probably_damaging(0.998) 4/4 hmmpanther:PTHR15724 MODERATE 1 SNV 1 PASS TTT . . 6.732e-06 7.972e-05 135487776 OGDHL . GRCh38 chr10 49736168 49736168 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.2764T>G p.Phe922Val p.F922V ENST00000374103 22/23 93 83 7 30 30 0 OGDHL,missense_variant,p.Phe922Val,ENST00000374103,NM_018245.2,NM_001347819.1;OGDHL,missense_variant,p.Phe865Val,ENST00000419399,NM_001143996.1,NM_001347820.1;OGDHL,missense_variant,p.Phe713Val,ENST00000432695,NM_001143997.1,NM_001347822.1;OGDHL,non_coding_transcript_exon_variant,,ENST00000490844,; C ENSG00000197444 ENST00000374103 Transcript missense_variant 2850/3704 2764/3033 922/1010 F/V Ttc/Gtc 1 -1 OGDHL HGNC HGNC:25590 protein_coding YES CCDS7234.1 ENSP00000363216 Q9ULD0 UPI000013D6A4 NM_018245.2,NM_001347819.1 deleterious(0.03) probably_damaging(1) 22/23 Pfam_domain:PF16870,PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF5,TIGRFAM_domain:TIGR00239 MODERATE 1 SNV 1 PASS AAT . . 49736168 CHST3 . GRCh38 chr10 72007798 72007798 + Missense_Mutation SNP A A C rs757896210 7316-882 BS_9HYDMBBW A A c.767A>C p.Asn256Thr p.N256T ENST00000373115 3/3 71 62 7 28 27 0 CHST3,missense_variant,p.Asn256Thr,ENST00000373115,NM_004273.4;,regulatory_region_variant,,ENSR00000029654,; C ENSG00000122863 ENST00000373115 Transcript missense_variant 1204/6970 767/1440 256/479 N/T aAc/aCc rs757896210 1 1 CHST3 HGNC HGNC:1971 protein_coding YES CCDS7312.1 ENSP00000362207 Q7LGC8 UPI000013CB04 NM_004273.4 deleterious(0) probably_damaging(0.997) 3/3 Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF60 MODERATE 1 SNV 1 1 PASS AAC . . 4.473e-06 7.505e-05 72007798 MUC6 . GRCh38 chr11 1026948 1026948 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.2387T>G p.Val796Gly p.V796G ENST00000421673 19/33 96 80 16 45 44 0 MUC6,missense_variant,p.Val796Gly,ENST00000421673,NM_005961.2;MUC6,downstream_gene_variant,,ENST00000525923,; C ENSG00000184956 ENST00000421673 Transcript missense_variant 2438/8006 2387/7320 796/2439 V/G gTt/gGt 1 -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9 UPI0000251DBE NM_005961.2 tolerated(0.08) benign(0.354) 19/33 Gene3D:2.10.25.10,Pfam_domain:PF01826,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,Superfamily_domains:SSF57567 MODERATE 1 SNV 5 PASS AAC . . 1026948 PTGDR2 . GRCh38 chr11 60852637 60852637 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.1086A>C p.Glu362Asp p.E362D ENST00000332539 2/2 92 75 12 28 26 0 PTGDR2,missense_variant,p.Glu362Asp,ENST00000332539,NM_004778.2;CCDC86,downstream_gene_variant,,ENST00000227520,NM_024098.3;CCDC86,downstream_gene_variant,,ENST00000545580,;AP000777.3,upstream_gene_variant,,ENST00000538705,;CCDC86,downstream_gene_variant,,ENST00000535217,;,regulatory_region_variant,,ENSR00000040152,; G ENSG00000183134 ENST00000332539 Transcript missense_variant 1198/2895 1086/1188 362/395 E/D gaA/gaC 1 -1 PTGDR2 HGNC HGNC:4502 protein_coding YES CCDS7994.1 ENSP00000332812 Q9Y5Y4 UPI00001B011A NM_004778.2 tolerated_low_confidence(0.62) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR24229:SF8,hmmpanther:PTHR24229 MODERATE 1 SNV 1 PASS GTT . . 60852637 PACS1 . GRCh38 chr11 66070712 66070712 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.226A>C p.Met76Leu p.M76L ENST00000320580 1/24 87 72 7 42 39 0 PACS1,missense_variant,p.Met76Leu,ENST00000320580,NM_018026.3;SF3B2,downstream_gene_variant,,ENST00000322535,NM_006842.2;SF3B2,downstream_gene_variant,,ENST00000528302,;SF3B2,downstream_gene_variant,,ENST00000530981,;AP006287.2,upstream_gene_variant,,ENST00000529036,;PACS1,non_coding_transcript_exon_variant,,ENST00000527224,;SF3B2,downstream_gene_variant,,ENST00000534765,;,regulatory_region_variant,,ENSR00000040927,; C ENSG00000175115 ENST00000320580 Transcript missense_variant 259/4392 226/2892 76/963 M/L Atg/Ctg 1 1 PACS1 HGNC HGNC:30032 protein_coding YES CCDS8129.1 ENSP00000316454 Q6VY07 A0A024R5H6 UPI0000190973 NM_018026.3 tolerated_low_confidence(0.88) benign(0) 1/24 Low_complexity_(Seg):seg,hmmpanther:PTHR13280:SF16,hmmpanther:PTHR13280,Superfamily_domains:SSF81995 MODERATE 1 SNV 1 1 PASS CAT . . 66070712 SPTBN2 . GRCh38 chr11 66689179 66689179 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.5951T>G p.Ile1984Ser p.I1984S ENST00000533211 30/38 73 59 9 43 42 0 SPTBN2,missense_variant,p.Ile1984Ser,ENST00000533211,;SPTBN2,missense_variant,p.Ile1984Ser,ENST00000529997,;SPTBN2,missense_variant,p.Ile1984Ser,ENST00000309996,NM_006946.2;SPTBN2,intron_variant,,ENST00000611817,;SPTBN2,intron_variant,,ENST00000617502,;SPTBN2,splice_region_variant,,ENST00000647510,;SPTBN2,splice_region_variant,,ENST00000532902,;SPTBN2,upstream_gene_variant,,ENST00000528051,;SPTBN2,upstream_gene_variant,,ENST00000530775,;SPTBN2,upstream_gene_variant,,ENST00000532650,; C ENSG00000173898 ENST00000533211 Transcript missense_variant,splice_region_variant 6283/8128 5951/7173 1984/2390 I/S aTc/aGc 1 -1 SPTBN2 HGNC HGNC:11276 protein_coding YES CCDS8150.1 ENSP00000432568 O15020 UPI000013EF83 deleterious(0) probably_damaging(0.994) 30/38 Coiled-coils_(Ncoils):Coil,cd00176,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966,hmmpanther:PTHR11915:SF325,hmmpanther:PTHR11915 MODERATE 1 SNV 5 1 PASS GAT . . 66689179 TPBGL . GRCh38 chr11 75241239 75241239 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.190A>C p.Thr64Pro p.T64P ENST00000562197 1/1 85 71 7 37 35 0 TPBGL,missense_variant,p.Thr64Pro,ENST00000562197,NM_001195528.1;AP001972.3,upstream_gene_variant,,ENST00000530792,;AP001972.3,upstream_gene_variant,,ENST00000603012,;,regulatory_region_variant,,ENSR00000042099,; C ENSG00000261594 ENST00000562197 Transcript missense_variant 335/2793 190/1149 64/382 T/P Acc/Ccc 1 1 TPBGL HGNC HGNC:44159 protein_coding YES CCDS60895.1 ENSP00000474988 P0DKB5 UPI000044B6CB NM_001195528.1 deleterious(0.02) possibly_damaging(0.705) 1/1 hmmpanther:PTHR24364,hmmpanther:PTHR24364:SF16,Gene3D:3.80.10.10,Superfamily_domains:SSF52058 MODERATE 1 SNV PASS CAC . . 75241239 TPBGL . GRCh38 chr11 75241365 75241365 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.316A>C p.Ile106Leu p.I106L ENST00000562197 1/1 83 65 12 34 33 0 TPBGL,missense_variant,p.Ile106Leu,ENST00000562197,NM_001195528.1;AP001972.3,upstream_gene_variant,,ENST00000530792,;AP001972.3,upstream_gene_variant,,ENST00000603012,;,regulatory_region_variant,,ENSR00000042099,; C ENSG00000261594 ENST00000562197 Transcript missense_variant 461/2793 316/1149 106/382 I/L Atc/Ctc 1 1 TPBGL HGNC HGNC:44159 protein_coding YES CCDS60895.1 ENSP00000474988 P0DKB5 UPI000044B6CB NM_001195528.1 deleterious(0.02) possibly_damaging(0.898) 1/1 hmmpanther:PTHR24364,hmmpanther:PTHR24364:SF16,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV PASS CAT . . 75241365 ARL6IP4 . GRCh38 chr12 122980707 122980707 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.503A>C p.Lys168Thr p.K168T ENST00000315580 1/6 84 66 15 42 42 0 ARL6IP4,missense_variant,p.Lys168Thr,ENST00000315580,NM_018694.3;ARL6IP4,missense_variant,p.Lys168Thr,ENST00000543566,NM_001278379.1,NM_016638.3;ARL6IP4,missense_variant,p.Lys168Thr,ENST00000453766,NM_001278378.1,NM_001002251.2;ARL6IP4,missense_variant,p.Lys168Thr,ENST00000392435,NM_001002252.2;ARL6IP4,missense_variant,p.Lys107Thr,ENST00000542099,;ABCB9,5_prime_UTR_variant,,ENST00000542678,;ARL6IP4,5_prime_UTR_variant,,ENST00000454885,NM_001278380.1;ARL6IP4,5_prime_UTR_variant,,ENST00000412505,;ARL6IP4,intron_variant,,ENST00000413381,;ARL6IP4,intron_variant,,ENST00000426960,;OGFOD2,downstream_gene_variant,,ENST00000228922,NM_001304833.1;PITPNM2,downstream_gene_variant,,ENST00000280562,NM_001300801.1;PITPNM2,downstream_gene_variant,,ENST00000320201,NM_020845.2;ARL6IP4,upstream_gene_variant,,ENST00000357866,;OGFOD2,downstream_gene_variant,,ENST00000397389,NM_024623.2;ARL6IP4,upstream_gene_variant,,ENST00000439686,;OGFOD2,downstream_gene_variant,,ENST00000454694,NM_001304838.1;ARL6IP4,upstream_gene_variant,,ENST00000456762,;OGFOD2,downstream_gene_variant,,ENST00000536150,NM_001304837.1;OGFOD2,downstream_gene_variant,,ENST00000536439,;OGFOD2,downstream_gene_variant,,ENST00000537966,;OGFOD2,downstream_gene_variant,,ENST00000538628,NM_001304835.1;OGFOD2,downstream_gene_variant,,ENST00000538755,NM_001304834.1;PITPNM2,downstream_gene_variant,,ENST00000542749,;OGFOD2,downstream_gene_variant,,ENST00000545056,;OGFOD2,downstream_gene_variant,,ENST00000545317,;OGFOD2,downstream_gene_variant,,ENST00000545612,NM_001304836.1;OGFOD2,downstream_gene_variant,,ENST00000535970,;OGFOD2,downstream_gene_variant,,ENST00000536615,;OGFOD2,downstream_gene_variant,,ENST00000541360,;OGFOD2,downstream_gene_variant,,ENST00000542117,;OGFOD2,downstream_gene_variant,,ENST00000542940,;OGFOD2,downstream_gene_variant,,ENST00000544358,;OGFOD2,downstream_gene_variant,,ENST00000544852,;OGFOD2,downstream_gene_variant,,ENST00000545033,;ARL6IP4,missense_variant,p.Lys107Thr,ENST00000539770,;AC026362.1,non_coding_transcript_exon_variant,,ENST00000540866,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000539576,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000442210,;ARL6IP4,upstream_gene_variant,,ENST00000392433,;OGFOD2,downstream_gene_variant,,ENST00000406539,;OGFOD2,downstream_gene_variant,,ENST00000420319,;ARL6IP4,upstream_gene_variant,,ENST00000536073,;ARL6IP4,upstream_gene_variant,,ENST00000536502,;OGFOD2,downstream_gene_variant,,ENST00000540324,;ARL6IP4,upstream_gene_variant,,ENST00000540382,;ARL6IP4,upstream_gene_variant,,ENST00000540708,;OGFOD2,downstream_gene_variant,,ENST00000542037,;OGFOD2,downstream_gene_variant,,ENST00000545396,;OGFOD2,downstream_gene_variant,,ENST00000545976,;,regulatory_region_variant,,ENSR00000058680,; C ENSG00000182196 ENST00000315580 Transcript missense_variant 648/1644 503/1266 168/421 K/T aAg/aCg 1 1 ARL6IP4 HGNC HGNC:18076 protein_coding YES CCDS31923.2 ENSP00000313422 Q66PJ3 UPI0000D474C2 NM_018694.3 deleterious_low_confidence(0) benign(0.086) 1/6 mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 122980707 ARGLU1 . GRCh38 chr13 106567726 106567726 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.194T>G p.Val65Gly p.V65G ENST00000400198 1/4 107 73 18 46 45 1 ARGLU1,missense_variant,p.Val65Gly,ENST00000400198,NM_018011.3;ARGLU1,upstream_gene_variant,,ENST00000360629,;,regulatory_region_variant,,ENSR00000065521,; C ENSG00000134884 ENST00000400198 Transcript missense_variant 439/3390 194/822 65/273 V/G gTg/gGg 1 -1 ARGLU1 HGNC HGNC:25482 protein_coding YES CCDS41906.1 ENSP00000383059 Q9NWB6 A0A024RDW4 UPI00000373ED NM_018011.3 tolerated(0.25) benign(0) 1/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR31711:SF1,hmmpanther:PTHR31711 MODERATE 1 SNV 1 PASS CAC . . 106567726 MMP14 . GRCh38 chr14 22843800 22843800 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.941A>C p.Tyr314Ser p.Y314S ENST00000311852 6/10 70 62 7 32 32 0 MMP14,missense_variant,p.Tyr314Ser,ENST00000311852,NM_004995.3;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,non_coding_transcript_exon_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547074,;MMP14,downstream_gene_variant,,ENST00000547596,; C ENSG00000157227 ENST00000311852 Transcript missense_variant 1202/3732 941/1749 314/582 Y/S tAt/tCt 1 1 MMP14 HGNC HGNC:7160 protein_coding YES CCDS9577.1 ENSP00000308208 P50281 UPI0000048136 NM_004995.3 tolerated(0.31) benign(0.01) 6/10 mobidb-lite,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF24 MODERATE 1 SNV 1 1 PASS TAT . . 22843800 SGPP1 . GRCh38 chr14 63727673 63727673 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.272A>C p.Asn91Thr p.N91T ENST00000247225 1/3 83 71 11 44 43 0 SGPP1,missense_variant,p.Asn91Thr,ENST00000247225,NM_030791.3;,regulatory_region_variant,,ENSR00000069545,; G ENSG00000126821 ENST00000247225 Transcript missense_variant 367/3312 272/1326 91/441 N/T aAc/aCc 1 -1 SGPP1 HGNC HGNC:17720 protein_coding YES CCDS9760.1 ENSP00000247225 Q9BX95 UPI000006DEB2 NM_030791.3 tolerated(0.34) benign(0.242) 1/3 mobidb-lite,hmmpanther:PTHR14969,hmmpanther:PTHR14969:SF16,Gene3D:1.20.144.10 MODERATE 1 SNV 1 PASS GTT . . 63727673 CRIP2 . GRCh38 chr14 105478805 105478805 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.493A>C p.Ile165Leu p.I165L ENST00000483017 4/8 68 53 11 38 35 1 CRIP2,missense_variant,p.Ile91Leu,ENST00000329146,NM_001312.3;CRIP2,missense_variant,p.Ile165Leu,ENST00000483017,NM_001270837.1;CRIP2,missense_variant,p.Ile75Leu,ENST00000538259,;CRIP2,intron_variant,,ENST00000550577,NM_001270841.1;CRIP2,non_coding_transcript_exon_variant,,ENST00000548989,;CRIP2,non_coding_transcript_exon_variant,,ENST00000548309,;CRIP2,downstream_gene_variant,,ENST00000548923,;CRIP2,non_coding_transcript_exon_variant,,ENST00000552643,;CRIP2,non_coding_transcript_exon_variant,,ENST00000547643,;CRIP2,non_coding_transcript_exon_variant,,ENST00000551836,;CRIP2,non_coding_transcript_exon_variant,,ENST00000551738,; C ENSG00000182809 ENST00000483017 Transcript missense_variant 779/1176 493/849 165/282 I/L Atc/Ctc 1 1 CRIP2 HGNC HGNC:2361 protein_coding YES CCDS59246.1 ENSP00000426119 P52943 UPI0001914E41 NM_001270837.1 tolerated(0.2) benign(0.011) 4/8 MODERATE 1 SNV 2 PASS CAT . . 105478805 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 82 56 12 38 37 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 DUT . GRCh38 chr15 48331765 48331765 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.250A>C p.Lys84Gln p.K84Q ENST00000331200 1/7 76 60 13 37 36 0 DUT,missense_variant,p.Lys84Gln,ENST00000331200,NM_001025248.1;DUT,intron_variant,,ENST00000558472,;DUT,intron_variant,,ENST00000558813,NM_001025249.1;DUT,intron_variant,,ENST00000559416,;DUT,intron_variant,,ENST00000559935,;DUT,upstream_gene_variant,,ENST00000455976,NM_001948.3;DUT,upstream_gene_variant,,ENST00000558367,;DUT,upstream_gene_variant,,ENST00000559540,;AC023355.1,non_coding_transcript_exon_variant,,ENST00000612262,;AC023355.1,non_coding_transcript_exon_variant,,ENST00000560323,;AC023355.1,non_coding_transcript_exon_variant,,ENST00000559134,;DUT,upstream_gene_variant,,ENST00000561350,;DUT,missense_variant,p.Lys84Gln,ENST00000558978,;,regulatory_region_variant,,ENSR00000076158,; C ENSG00000128951 ENST00000331200 Transcript missense_variant 343/2147 250/759 84/252 K/Q Aag/Cag 1 1 DUT HGNC HGNC:3078 protein_coding YES CCDS32231.1 ENSP00000370376 P33316 UPI000035ECE0 NM_001025248.1 tolerated_low_confidence(0.23) benign(0.027) 1/7 mobidb-lite,hmmpanther:PTHR11241,hmmpanther:PTHR11241:SF6 MODERATE 1 SNV 1 PASS TAA . . 48331765 PDCD7 . GRCh38 chr15 65133544 65133544 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.238T>G p.Phe80Val p.F80V ENST00000204549 1/5 87 74 9 37 36 0 PDCD7,missense_variant,p.Phe80Val,ENST00000204549,NM_005707.1;PDCD7,upstream_gene_variant,,ENST00000560313,;,regulatory_region_variant,,ENSR00000078048,; C ENSG00000090470 ENST00000204549 Transcript missense_variant 293/2851 238/1458 80/485 F/V Ttc/Gtc 1 -1 PDCD7 HGNC HGNC:8767 protein_coding YES CCDS10201.1 ENSP00000204549 Q8N8D1 Q6IEG3 UPI00000731D7 NM_005707.1 deleterious(0.02) benign(0.281) 1/5 hmmpanther:PTHR44604,mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 65133544 ZNF592 . GRCh38 chr15 84798047 84798047 + Splice_Site SNP T T G novel 7316-882 BS_9HYDMBBW T T c.2576+2T>G p.X859_splice ENST00000560079 88 71 10 39 39 0 ZNF592,splice_donor_variant,,ENST00000299927,;ZNF592,splice_donor_variant,,ENST00000560079,NM_014630.2;ZNF592,splice_donor_variant,,ENST00000559607,; G ENSG00000166716 ENST00000560079 Transcript splice_donor_variant 1 1 ZNF592 HGNC HGNC:28986 protein_coding YES CCDS32317.1 ENSP00000452877 Q92610 UPI000013E5FC NM_014630.2 6/10 HIGH 1 SNV 1 1 PASS GTG . . 84798047 ALPK3 . GRCh38 chr15 84817330 84817330 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.484A>C p.Asn162His p.N162H ENST00000258888 1/14 82 63 9 44 44 0 ALPK3,missense_variant,p.Asn162His,ENST00000258888,NM_020778.4;,regulatory_region_variant,,ENSR00000080458,; C ENSG00000136383 ENST00000258888 Transcript missense_variant 651/10917 484/5724 162/1907 N/H Aat/Cat 1 1 ALPK3 HGNC HGNC:17574 protein_coding YES CCDS10333.1 ENSP00000258888 Q96L96 UPI000013D013 NM_020778.4 deleterious_low_confidence(0) probably_damaging(0.996) 1/14 mobidb-lite MODERATE 1 SNV 1 PASS AAA . . 84817330 ALPK3 . GRCh38 chr15 84857959 84857959 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.3827T>G p.Ile1276Ser p.I1276S ENST00000258888 6/14 97 82 13 45 44 0 ALPK3,missense_variant,p.Ile1276Ser,ENST00000258888,NM_020778.4; G ENSG00000136383 ENST00000258888 Transcript missense_variant 3994/10917 3827/5724 1276/1907 I/S aTt/aGt 1 1 ALPK3 HGNC HGNC:17574 protein_coding YES CCDS10333.1 ENSP00000258888 Q96L96 UPI000013D013 NM_020778.4 deleterious(0) probably_damaging(0.994) 6/14 hmmpanther:PTHR45152 MODERATE 1 SNV 1 PASS ATT . . 84857959 MAZ . GRCh38 chr16 29807204 29807204 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.419T>G p.Val140Gly p.V140G ENST00000219782 2/6 56 36 9 39 38 0 MAZ,missense_variant,p.Val140Gly,ENST00000219782,NM_001042539.2;MAZ,missense_variant,p.Val140Gly,ENST00000322945,NM_002383.3;MAZ,missense_variant,p.Val117Gly,ENST00000545521,NM_001276275.1;MAZ,intron_variant,,ENST00000562337,NM_001276276.1;MAZ,intron_variant,,ENST00000563402,;MAZ,intron_variant,,ENST00000566906,;KIF22,downstream_gene_variant,,ENST00000160827,NM_007317.2;PRRT2,upstream_gene_variant,,ENST00000358758,NM_145239.2;KIF22,downstream_gene_variant,,ENST00000400751,;KIF22,downstream_gene_variant,,ENST00000561482,NM_001256270.1,NM_001256269.1;PRRT2,upstream_gene_variant,,ENST00000562148,;MAZ,upstream_gene_variant,,ENST00000562557,;MAZ,upstream_gene_variant,,ENST00000563012,;MAZ,upstream_gene_variant,,ENST00000567444,;PRRT2,upstream_gene_variant,,ENST00000567551,;PRRT2,upstream_gene_variant,,ENST00000567659,NM_001256442.1;MAZ,upstream_gene_variant,,ENST00000568282,;MAZ,upstream_gene_variant,,ENST00000568411,;MAZ,upstream_gene_variant,,ENST00000568544,;KIF22,downstream_gene_variant,,ENST00000569382,;MAZ,upstream_gene_variant,,ENST00000569978,;MAZ,upstream_gene_variant,,ENST00000616501,;PRRT2,upstream_gene_variant,,ENST00000636619,;PRRT2,upstream_gene_variant,,ENST00000637565,;PRRT2,upstream_gene_variant,,ENST00000637596,;AC009133.2,intron_variant,,ENST00000566537,;AC009133.1,downstream_gene_variant,,ENST00000563806,;AC009133.1,downstream_gene_variant,,ENST00000569039,;AC009133.1,downstream_gene_variant,,ENST00000569981,;AC009133.4,upstream_gene_variant,,ENST00000619159,;AC009133.5,upstream_gene_variant,,ENST00000562594,;PRRT2,upstream_gene_variant,,ENST00000568516,;PRRT2,upstream_gene_variant,,ENST00000636001,;PRRT2,upstream_gene_variant,,ENST00000637542,;MAZ,intron_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000565777,;KIF22,downstream_gene_variant,,ENST00000568312,;PRRT2,upstream_gene_variant,,ENST00000636131,;PRRT2,upstream_gene_variant,,ENST00000637290,;,regulatory_region_variant,,ENSR00000280275,; G ENSG00000103495 ENST00000219782 Transcript missense_variant 525/2698 419/1482 140/493 V/G gTg/gGg 1 1 MAZ HGNC HGNC:6914 protein_coding YES CCDS42144.1 ENSP00000219782 P56270 UPI00001AE621 NM_001042539.2 deleterious_low_confidence(0.01) benign(0.007) 2/6 Gene3D:3.30.60.60,hmmpanther:PTHR45257,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 29807204 VPS9D1 . GRCh38 chr16 89710776 89710776 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.1068A>C p.Gln356His p.Q356H ENST00000389386 10/15 97 85 9 34 34 0 VPS9D1,missense_variant,p.Gln286His,ENST00000561976,;VPS9D1,missense_variant,p.Gln356His,ENST00000389386,NM_004913.2;VPS9D1,upstream_gene_variant,,ENST00000565023,;VPS9D1-AS1,upstream_gene_variant,,ENST00000562866,;VPS9D1,downstream_gene_variant,,ENST00000565452,;VPS9D1,downstream_gene_variant,,ENST00000563798,;VPS9D1,downstream_gene_variant,,ENST00000567379,;VPS9D1,downstream_gene_variant,,ENST00000568691,; G ENSG00000075399 ENST00000389386 Transcript missense_variant 1193/2748 1068/1896 356/631 Q/H caA/caC 1 -1 VPS9D1 HGNC HGNC:13526 protein_coding YES CCDS42220.1 ENSP00000374037 Q9Y2B5 UPI00001FF749 NM_004913.2 tolerated(0.7) benign(0) 10/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF98 MODERATE 1 SNV 1 PASS GTT . . 89710776 GIT1 . GRCh38 chr17 29577649 29577649 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.1004A>C p.Asn335Thr p.N335T ENST00000394869 11/21 73 57 12 43 42 0 GIT1,missense_variant,p.Asn326Thr,ENST00000225394,NM_014030.3;GIT1,missense_variant,p.Asn335Thr,ENST00000394869,NM_001085454.1;GIT1,missense_variant,p.Asn335Thr,ENST00000581348,;GIT1,missense_variant,p.Asn326Thr,ENST00000579937,;GIT1,missense_variant,p.Asn87Thr,ENST00000585148,;TP53I13,downstream_gene_variant,,ENST00000301057,NM_138349.2;GIT1,downstream_gene_variant,,ENST00000335356,;TP53I13,downstream_gene_variant,,ENST00000378818,;GIT1,upstream_gene_variant,,ENST00000578266,;GIT1,downstream_gene_variant,,ENST00000583413,;ABHD15-AS1,intron_variant,,ENST00000581474,;GIT1,non_coding_transcript_exon_variant,,ENST00000473217,;GIT1,non_coding_transcript_exon_variant,,ENST00000581925,;GIT1,non_coding_transcript_exon_variant,,ENST00000586574,;GIT1,upstream_gene_variant,,ENST00000491377,;GIT1,upstream_gene_variant,,ENST00000578670,;GIT1,downstream_gene_variant,,ENST00000579536,;TP53I13,downstream_gene_variant,,ENST00000579674,;,regulatory_region_variant,,ENSR00000092885,; G ENSG00000108262 ENST00000394869 Transcript missense_variant 1175/3711 1004/2313 335/770 N/T aAt/aCt 1 -1 GIT1 HGNC HGNC:4272 protein_coding YES CCDS42290.1 ENSP00000378338 Q9Y2X7 UPI0000E59EEC NM_001085454.1 deleterious(0) probably_damaging(0.95) 11/21 hmmpanther:PTHR23180:SF193,hmmpanther:PTHR23180,Gene3D:1.25.40.20 MODERATE 1 SNV 1 PASS ATT . . 29577649 CRLF3 . GRCh38 chr17 30824596 30824596 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.56A>C p.Asn19Thr p.N19T ENST00000324238 1/8 91 79 12 47 46 0 CRLF3,missense_variant,p.Asn19Thr,ENST00000324238,NM_015986.3;CRLF3,missense_variant,p.Asn19Thr,ENST00000578692,;,regulatory_region_variant,,ENSR00000093035,;,TF_binding_site_variant,,MA0059.1,; G ENSG00000176390 ENST00000324238 Transcript missense_variant 181/2957 56/1329 19/442 N/T aAc/aCc 1 -1 CRLF3 HGNC HGNC:17177 protein_coding YES CCDS32607.1 ENSP00000318804 Q8IUI8 UPI0000231BEA NM_015986.3 tolerated(0.9) benign(0.009) 1/8 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23389:SF12,hmmpanther:PTHR23389 MODERATE 1 SNV 1 PASS GTT . . 30824596 KRTAP4-4 . GRCh38 chr17 41160318 41160318 + Missense_Mutation SNP T T A 7316-882 BS_9HYDMBBW T T c.374A>T p.Tyr125Phe p.Y125F ENST00000390661 1/1 68 50 8 38 32 0 KRTAP4-4,missense_variant,p.Tyr125Phe,ENST00000390661,NM_032524.1; A ENSG00000171396 ENST00000390661 Transcript missense_variant 414/1081 374/501 125/166 Y/F tAc/tTc COSM1493892 1 -1 KRTAP4-4 HGNC HGNC:16928 protein_coding YES CCDS11383.1 ENSP00000375076 Q9BYR3 UPI000006DEC1 NM_032524.1 deleterious(0.01) benign(0.007) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF132,hmmpanther:PTHR23262:SF132,hmmpanther:PTHR23262,hmmpanther:PTHR23262 1 MODERATE 1 SNV 1 PASS GTA . . 41160318 C1QL1 . GRCh38 chr17 44967513 44967513 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.536A>C p.His179Pro p.H179P ENST00000253407 1/2 104 89 14 23 21 0 C1QL1,missense_variant,p.His179Pro,ENST00000253407,NM_006688.4; G ENSG00000131094 ENST00000253407 Transcript missense_variant 559/1295 536/777 179/258 H/P cAt/cCt 1 -1 C1QL1 HGNC HGNC:24182 protein_coding YES CCDS11492.1 ENSP00000253407 O75973 UPI0000126BF5 NM_006688.4 deleterious(0) probably_damaging(0.968) 1/2 PROSITE_profiles:PS50871,hmmpanther:PTHR22923,hmmpanther:PTHR22923:SF64,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007 MODERATE 1 SNV 1 PASS ATG . . 44967513 RSAD1 . GRCh38 chr17 50478961 50478961 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.77A>C p.Asn26Thr p.N26T ENST00000258955 1/9 103 91 11 29 29 0 RSAD1,missense_variant,p.Asn26Thr,ENST00000258955,NM_018346.2;ACSF2,downstream_gene_variant,,ENST00000300441,NM_025149.5;ACSF2,downstream_gene_variant,,ENST00000427954,NM_001288968.1;ACSF2,downstream_gene_variant,,ENST00000502667,NM_001288969.1;ACSF2,downstream_gene_variant,,ENST00000504392,NM_001288971.1,NM_001288970.1,NM_001288972.1;RSAD1,upstream_gene_variant,,ENST00000510554,;AC021491.4,downstream_gene_variant,,ENST00000620769,;ACSF2,downstream_gene_variant,,ENST00000506085,;ACSF2,downstream_gene_variant,,ENST00000511147,;ACSF2,downstream_gene_variant,,ENST00000512119,;RSAD1,missense_variant,p.Asn20Thr,ENST00000504284,;RSAD1,missense_variant,p.Asn26Thr,ENST00000515221,;RSAD1,non_coding_transcript_exon_variant,,ENST00000443328,;RSAD1,upstream_gene_variant,,ENST00000506211,;ACSF2,downstream_gene_variant,,ENST00000507792,;RSAD1,upstream_gene_variant,,ENST00000509398,;ACSF2,downstream_gene_variant,,ENST00000510410,;,regulatory_region_variant,,ENSR00000095672,; C ENSG00000136444 ENST00000258955 Transcript missense_variant 162/2528 77/1329 26/442 N/T aAc/aCc 1 1 RSAD1 HGNC HGNC:25634 protein_coding YES CCDS11569.1 ENSP00000258955 Q9HA92 UPI0000070E2E NM_018346.2 tolerated_low_confidence(0.34) benign(0) 1/9 SFLDG01065,hmmpanther:PTHR13932,hmmpanther:PTHR13932:SF14,Gene3D:3.20.20.70 MODERATE 1 SNV 1 PASS AAC . . 50478961 PPM1E . GRCh38 chr17 58756192 58756192 + Missense_Mutation SNP A A C rs745942068 7316-882 BS_9HYDMBBW A A c.195A>C p.Glu65Asp p.E65D ENST00000308249 1/7 79 61 15 30 30 0 PPM1E,missense_variant,p.Glu65Asp,ENST00000308249,NM_014906.4;,regulatory_region_variant,,ENSR00000096303,; C ENSG00000175175 ENST00000308249 Transcript missense_variant 324/6542 195/2268 65/755 E/D gaA/gaC rs745942068 1 1 PPM1E HGNC HGNC:19322 protein_coding YES CCDS11613.1 ENSP00000312411 Q8WY54 UPI000013ECF6 NM_014906.4 tolerated_low_confidence(0.2) benign(0) 1/7 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 6.396e-06 4.176e-05 58756192 CYB561 . GRCh38 chr17 63446246 63446246 + Splice_Region SNP T T G novel 7316-882 BS_9HYDMBBW T T c.-15A>C ENST00000360793 1/6 83 59 13 47 46 0 CYB561,splice_region_variant,,ENST00000360793,NM_001915.3,NM_001330421.1;CYB561,splice_region_variant,,ENST00000448884,;CYB561,splice_region_variant,,ENST00000582034,;CYB561,splice_region_variant,,ENST00000582297,;CYB561,splice_region_variant,,ENST00000578072,;CYB561,upstream_gene_variant,,ENST00000392976,NM_001017916.1;CYB561,upstream_gene_variant,,ENST00000584031,;CYB561,upstream_gene_variant,,ENST00000584291,;CYB561,splice_region_variant,,ENST00000577989,;CYB561,splice_region_variant,,ENST00000578016,;CYB561,splice_region_variant,,ENST00000577368,;CYB561,splice_region_variant,,ENST00000583478,;,regulatory_region_variant,,ENSR00000096802,; G ENSG00000008283 ENST00000360793 Transcript splice_region_variant,5_prime_UTR_variant 133/3001 1 -1 CYB561 HGNC HGNC:2571 protein_coding CCDS11636.1 ENSP00000354028 P49447 UPI0000126C79 NM_001915.3,NM_001330421.1 1/6 LOW 1 SNV 1 PASS CTT . . 63446246 APC2 . GRCh38 chr19 1465765 1465765 + Missense_Mutation SNP A A C rs759652503 7316-882 BS_9HYDMBBW A A c.2464A>C p.Thr822Pro p.T822P ENST00000535453 14/14 116 101 11 32 30 0 APC2,missense_variant,p.Thr822Pro,ENST00000535453,;APC2,missense_variant,p.Thr822Pro,ENST00000233607,NM_005883.2,NM_001351273.1;C19orf25,intron_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000238483,;APC2,downstream_gene_variant,,ENST00000590469,;APC2,downstream_gene_variant,,ENST00000593146,;,regulatory_region_variant,,ENSR00000105698,;,regulatory_region_variant,,ENSR00000286987,; C ENSG00000115266 ENST00000535453 Transcript missense_variant 4177/11656 2464/6912 822/2303 T/P Acc/Ccc rs759652503 1 1 APC2 HGNC HGNC:24036 protein_coding YES CCDS12068.1 ENSP00000442954 O95996 UPI0000073D85 tolerated(0.23) benign(0) 14/14 Pfam_domain:PF16629,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF3,mobidb-lite MODERATE 1 SNV 1 1 PASS CAC . . 7.874e-05 0.000481 0.0001147 1465765 CYP4F2 . GRCh38 chr19 15878886 15878886 + Missense_Mutation SNP G G C rs3952537 7316-882 BS_9HYDMBBW G G c.1448C>G p.Ala483Gly p.A483G ENST00000221700 13/13 78 68 8 34 33 0 CYP4F2,missense_variant,p.Ala483Gly,ENST00000221700,NM_001082.4;CYP4F2,missense_variant,p.Ala483Gly,ENST00000011989,;CYP4F2,3_prime_UTR_variant,,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,; C ENSG00000186115 ENST00000221700 Transcript missense_variant 1544/2407 1448/1563 483/520 A/G gCg/gGg rs3952537,COSM225400 1 -1 CYP4F2 HGNC HGNC:2645 protein_coding YES CCDS12336.1 ENSP00000221700 P78329 UPI0000052BE6 NM_001082.4 deleterious(0.02) benign(0.122) 13/13 hmmpanther:PTHR24291:SF112,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGC . . 0.01051 0.0229 0.004629 0.0278 0.008696 0.02648 0.009563 0.006944 0.001296 15878886 CEBPA . GRCh38 chr19 33301942 33301942 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.473T>G p.Leu158Arg p.L158R ENST00000498907 1/1 49 28 11 35 33 2 CEBPA,missense_variant,p.Leu158Arg,ENST00000498907,NM_001287435.1,NM_004364.4,NM_001285829.1,NM_001287424.1;AC008738.2,upstream_gene_variant,,ENST00000593041,;AC008738.5,downstream_gene_variant,,ENST00000587312,;AC008738.3,downstream_gene_variant,,ENST00000589932,;CEBPA-DT,upstream_gene_variant,,ENST00000592982,;,regulatory_region_variant,,ENSR00000108807,; C ENSG00000245848 ENST00000498907 Transcript missense_variant 623/2631 473/1077 158/358 L/R cTg/cGg 1 -1 CEBPA HGNC HGNC:1833 protein_coding YES CCDS54243.1 ENSP00000427514 P49715 UPI0000167F92 NM_001287435.1,NM_004364.4,NM_001285829.1,NM_001287424.1 deleterious(0) benign(0.307) 1/1 hmmpanther:PTHR23334:SF5,hmmpanther:PTHR23334,PIRSF_domain:PIRSF005879 MODERATE SNV 1 PASS CAG . . 33301942 MAP3K10 . GRCh38 chr19 40192032 40192032 + Translation_Start_Site SNP A A C novel 7316-882 BS_9HYDMBBW A A c.1A>C p.Met1? p.M1? ENST00000253055 1/10 58 47 10 37 35 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; C ENSG00000130758 ENST00000253055 Transcript start_lost 289/3436 1/2865 1/954 M/L Atg/Ctg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.456) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS CAT . . 40192032 NPAS1 . GRCh38 chr19 47019999 47019999 + Splice_Site SNP T T G rs1476585172 7316-882 BS_9HYDMBBW T T c.-43+2T>G ENST00000602212 63 52 8 36 32 0 NPAS1,splice_donor_variant,,ENST00000602189,;NPAS1,splice_donor_variant,,ENST00000602212,NM_002517.3;NPAS1,upstream_gene_variant,,ENST00000449844,;,regulatory_region_variant,,ENSR00000110489,; G ENSG00000130751 ENST00000602212 Transcript splice_donor_variant rs1476585172 1 1 NPAS1 HGNC HGNC:7894 protein_coding YES CCDS12694.1 ENSP00000469142 Q99742 UPI0000073CD1 NM_002517.3 1/11 HIGH 1 SNV 1 PASS GTA . . 47019999 KCNC3 . GRCh38 chr19 50323098 50323098 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.1855A>C p.Thr619Pro p.T619P ENST00000477616 2/5 76 62 8 38 38 0 KCNC3,missense_variant,p.Thr619Pro,ENST00000376959,;KCNC3,missense_variant,p.Thr619Pro,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000474951,; G ENSG00000131398 ENST00000477616 Transcript missense_variant 2150/3176 1855/2274 619/757 T/P Acg/Ccg 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 tolerated_low_confidence(0.08) benign(0.094) 2/5 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF184 MODERATE 1 SNV 1 1 PASS GTG . . 50323098 SHANK1 . GRCh38 chr19 50668398 50668398 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.3562A>C p.Thr1188Pro p.T1188P ENST00000293441 22/23 87 72 10 21 20 0 SHANK1,missense_variant,p.Thr1188Pro,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Thr1196Pro,ENST00000391814,;SHANK1,missense_variant,p.Thr1179Pro,ENST00000359082,;SHANK1,missense_variant,p.Thr575Pro,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,; G ENSG00000161681 ENST00000293441 Transcript missense_variant 3581/6643 3562/6486 1188/2161 T/P Acg/Ccg 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 tolerated(0.28) benign(0) 22/23 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3 MODERATE 1 SNV 1 1 PASS GTG . . 50668398 STK35 . GRCh38 chr20 2102960 2102960 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.487A>C p.Lys163Gln p.K163Q ENST00000381482 2/4 91 81 9 41 41 0 STK35,missense_variant,p.Lys163Gln,ENST00000381482,NM_080836.3;STK35,missense_variant,p.Lys24Gln,ENST00000493263,;,regulatory_region_variant,,ENSR00000133633,; C ENSG00000125834 ENST00000381482 Transcript missense_variant 758/6685 487/1605 163/534 K/Q Aag/Cag 1 1 STK35 HGNC HGNC:16254 protein_coding YES CCDS13024.2 ENSP00000370891 Q8TDR2 UPI00003FCD67 NM_080836.3 tolerated_low_confidence(0.09) benign(0.073) 2/4 hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF59,mobidb-lite MODERATE 1 SNV 5 PASS GAA . . 2102960 PANK2 . GRCh38 chr20 3889279 3889279 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.179T>G p.Val60Gly p.V60G ENST00000316562 1/7 92 78 11 34 34 0 PANK2,missense_variant,p.Val60Gly,ENST00000316562,NM_153638.3;PANK2,intron_variant,,ENST00000495692,NM_001324193.1;PANK2,intron_variant,,ENST00000497424,NM_001324191.1,NM_024960.5;PANK2,upstream_gene_variant,,ENST00000610179,;PANK2,upstream_gene_variant,,ENST00000621507,NM_153640.3;PANK2,upstream_gene_variant,,ENST00000646394,;AL353194.1,upstream_gene_variant,,ENST00000451507,;PANK2,upstream_gene_variant,,ENST00000471830,;PANK2,upstream_gene_variant,,ENST00000336066,;PANK2,upstream_gene_variant,,ENST00000643504,;,regulatory_region_variant,,ENSR00000133825,; G ENSG00000125779 ENST00000316562 Transcript missense_variant 185/2280 179/1713 60/570 V/G gTt/gGt 1 1 PANK2 HGNC HGNC:15894 protein_coding YES CCDS13071.2 ENSP00000313377 Q9BZ23 UPI000036701A NM_153638.3 deleterious_low_confidence(0) benign(0) 1/7 mobidb-lite MODERATE 1 SNV 1 1 PASS GTT . . 3889279 PANK2 . GRCh38 chr20 3889331 3889331 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.231T>G p.Asp77Glu p.D77E ENST00000316562 1/7 94 79 11 33 33 0 PANK2,missense_variant,p.Asp77Glu,ENST00000316562,NM_153638.3;PANK2,intron_variant,,ENST00000495692,NM_001324193.1;PANK2,intron_variant,,ENST00000497424,NM_001324191.1,NM_024960.5;PANK2,upstream_gene_variant,,ENST00000610179,;PANK2,upstream_gene_variant,,ENST00000621507,NM_153640.3;PANK2,upstream_gene_variant,,ENST00000646394,;AL353194.1,upstream_gene_variant,,ENST00000451507,;PANK2,upstream_gene_variant,,ENST00000471830,;PANK2,upstream_gene_variant,,ENST00000336066,;PANK2,upstream_gene_variant,,ENST00000643504,;,regulatory_region_variant,,ENSR00000133825,; G ENSG00000125779 ENST00000316562 Transcript missense_variant 237/2280 231/1713 77/570 D/E gaT/gaG 1 1 PANK2 HGNC HGNC:15894 protein_coding YES CCDS13071.2 ENSP00000313377 Q9BZ23 UPI000036701A NM_153638.3 tolerated_low_confidence(0.21) benign(0.138) 1/7 mobidb-lite MODERATE 1 SNV 1 1 PASS ATT . . 3889331 LAMA5 . GRCh38 chr20 62346713 62346713 + Missense_Mutation SNP T T G 7316-882 BS_9HYDMBBW T T c.1160A>C p.Tyr387Ser p.Y387S ENST00000252999 8/80 90 74 10 34 34 0 LAMA5,missense_variant,p.Tyr387Ser,ENST00000252999,NM_005560.4;LAMA5,missense_variant,p.Tyr218Ser,ENST00000497053,;LAMA5,non_coding_transcript_exon_variant,,ENST00000370677,; G ENSG00000130702 ENST00000252999 Transcript missense_variant 1227/11426 1160/11088 387/3695 Y/S tAt/tCt COSM4892353,COSM4892352,COSM3548688 1 -1 LAMA5 HGNC HGNC:6485 protein_coding YES CCDS33502.1 ENSP00000252999 O15230 UPI0000161FDC NM_005560.4 deleterious(0.01) possibly_damaging(0.891) 8/80 cd00055,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196,PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574 1,1,1 MODERATE 1 SNV 1 1,1,1 PASS ATA . . 62346713 MN1 . GRCh38 chr22 27800203 27800203 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.341T>G p.Phe114Cys p.F114C ENST00000302326 1/2 105 87 12 30 28 0 MN1,missense_variant,p.Phe114Cys,ENST00000302326,NM_002430.2;MN1,upstream_gene_variant,,ENST00000424656,; C ENSG00000169184 ENST00000302326 Transcript missense_variant 1296/7556 341/3963 114/1320 F/C tTt/tGt 1 -1 MN1 HGNC HGNC:7180 protein_coding YES CCDS42998.1 ENSP00000304956 Q10571 A0A024R1C3 UPI0000207445 NM_002430.2 deleterious_low_confidence(0) probably_damaging(0.998) 1/2 Gene3D:3.30.450.20,hmmpanther:PTHR15821,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAA . . 27800203 ATP6AP2 . GRCh38 chrX 40581073 40581073 + Missense_Mutation SNP T T G novel 7316-882 BS_9HYDMBBW T T c.8T>G p.Val3Gly p.V3G ENST00000636580 1/9 42 30 5 20 20 0 ATP6AP2,splice_donor_variant,,ENST00000637526,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000636580,NM_005765.2;ATP6AP2,missense_variant,p.Val3Gly,ENST00000378438,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000636409,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000636287,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000636196,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000638153,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000447485,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000423649,;ATP6AP2,5_prime_UTR_variant,,ENST00000637327,;ATP6AP2,5_prime_UTR_variant,,ENST00000636251,;ATP6AP2,5_prime_UTR_variant,,ENST00000637482,;ATP6AP2,5_prime_UTR_variant,,ENST00000636970,;ATP6AP2,intron_variant,,ENST00000436783,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000636639,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000636574,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000636787,;ATP6AP2,missense_variant,p.Val3Gly,ENST00000635774,;ATP6AP2,5_prime_UTR_variant,,ENST00000635734,;ATP6AP2,5_prime_UTR_variant,,ENST00000486558,;ATP6AP2,non_coding_transcript_exon_variant,,ENST00000637954,;ATP6AP2,non_coding_transcript_exon_variant,,ENST00000487051,;,regulatory_region_variant,,ENSR00000245947,; G ENSG00000182220 ENST00000636580 Transcript missense_variant 199/2337 8/1053 3/350 V/G gTg/gGg 1 1 ATP6AP2 HGNC HGNC:18305 protein_coding YES CCDS14252.1 ENSP00000490083 O75787 UPI000006EC3F NM_005765.2 deleterious(0) benign(0) 1/9 hmmpanther:PTHR13351,hmmpanther:PTHR13351:SF1,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS GTG . . 40581073 DUSP9 . GRCh38 chrX 153648195 153648195 + Missense_Mutation SNP A A C novel 7316-882 BS_9HYDMBBW A A c.242A>C p.Tyr81Ser p.Y81S ENST00000342782 2/4 32 20 7 25 25 0 DUSP9,missense_variant,p.Tyr81Ser,ENST00000342782,NM_001318503.1;DUSP9,missense_variant,p.Tyr81Ser,ENST00000370167,NM_001395.3;DUSP9,downstream_gene_variant,,ENST00000477033,;,regulatory_region_variant,,ENSR00000249577,; C ENSG00000130829 ENST00000342782 Transcript missense_variant 507/2433 242/1155 81/384 Y/S tAc/tCc 1 1 DUSP9 HGNC HGNC:3076 protein_coding YES CCDS14724.1 ENSP00000345853 Q99956 UPI0000049C1B NM_001318503.1 deleterious(0.03) possibly_damaging(0.657) 2/4 Gene3D:3.40.250.10,Pfam_domain:PF00581,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50206,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF388,SMART_domains:SM00450,Superfamily_domains:SSF52821,cd01446 MODERATE 1 SNV 1 PASS TAC . . 153648195 AXDND1 . GRCh38 chr1 179534900 179534905 + In_Frame_Del DEL AAGAAC AAGAAC - rs200097954 7316-3055 BS_51ZADQ6R AAGAAC AAGAAC c.2971_2976del p.Glu991_Gln992del p.E991_Q992del ENST00000367618 25/26 71 65 6 25 25 0 AXDND1,inframe_deletion,p.Glu991_Gln992del,ENST00000367618,NM_144696.5;AXDND1,inframe_deletion,p.Glu851_Gln852del,ENST00000434088,;AXDND1,3_prime_UTR_variant,,ENST00000617277,;AXDND1,non_coding_transcript_exon_variant,,ENST00000484883,;AXDND1,non_coding_transcript_exon_variant,,ENST00000484455,;AXDND1,3_prime_UTR_variant,,ENST00000511157,; - ENSG00000162779 ENST00000367618 Transcript inframe_deletion 3356-3361/3642 2969-2974/3039 990-992/1012 EEQ/E gAAGAACaa/gaa rs200097954,COSM146262 1 1 AXDND1 HGNC HGNC:26564 protein_coding YES CCDS30948.1 ENSP00000356590 Q5T1B0 UPI000022AC91 NM_144696.5 25/26 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23052 0.1813 0.333 0,1 MODERATE 1 deletion 1 2 0,1 PASS AGAAGAACA . . 0.0006727 0.0001414 0.001369 0.0006879 0.0005087 0.0001986 0.00037 0.0008696 0.001781 179534899 MUC3A . GRCh38 chr7 100953281 100953281 + Missense_Mutation SNP G G A rs1229668308 7316-3055 BS_51ZADQ6R G G c.1502G>A p.Ser501Asn p.S501N ENST00000379458 2/12 95 77 15 31 31 0 MUC3A,missense_variant,p.Ser501Asn,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Ser501Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 1572/11226 1502/9972 501/3323 S/N aGc/aAc rs1229668308 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 tolerated_low_confidence(0.05) unknown(0) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22 MODERATE 1 SNV 5 PASS AGC . . 100953281 FGFR1 . GRCh38 chr8 38414603 38414604 + Frame_Shift_Ins INS - - C rs1331358430 7316-3055 BS_51ZADQ6R - - c.2096_2097insG p.Pro700ThrfsTer6 p.P700Tfs*6 ENST00000425967 16/19 73 59 5 29 24 0 FGFR1,frameshift_variant,p.Pro669ThrfsTer6,ENST00000447712,NM_023110.2;FGFR1,frameshift_variant,p.Pro667ThrfsTer6,ENST00000397091,NM_015850.3;FGFR1,frameshift_variant,p.Pro667ThrfsTer6,ENST00000532791,NM_001174063.1;FGFR1,frameshift_variant,p.Pro700ThrfsTer6,ENST00000425967,NM_001174067.1;FGFR1,frameshift_variant,p.Pro659ThrfsTer6,ENST00000335922,NM_001174064.1;FGFR1,frameshift_variant,p.Pro580ThrfsTer6,ENST00000356207,NM_001174066.1,NM_023105.2;FGFR1,frameshift_variant,p.Pro578ThrfsTer6,ENST00000326324,NM_023106.2;FGFR1,frameshift_variant,p.Pro667ThrfsTer6,ENST00000397113,NM_001174065.1;FGFR1,frameshift_variant,p.Pro580ThrfsTer6,ENST00000397103,;FGFR1,frameshift_variant,p.Pro667ThrfsTer6,ENST00000397108,;FGFR1,3_prime_UTR_variant,,ENST00000341462,;FGFR1,3_prime_UTR_variant,,ENST00000619564,;FGFR1,upstream_gene_variant,,ENST00000526688,;FGFR1,frameshift_variant,p.Pro69ThrfsTer6,ENST00000531196,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,downstream_gene_variant,,ENST00000466021,;FGFR1,downstream_gene_variant,,ENST00000487647,;FGFR1,downstream_gene_variant,,ENST00000524528,;FGFR1,downstream_gene_variant,,ENST00000527114,;FGFR1,downstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000533619,; C ENSG00000077782 ENST00000425967 Transcript frameshift_variant 2419-2420/5375 2096-2097/2562 699/853 A/AX gca/gcGa rs1331358430 1 -1 FGFR1 HGNC HGNC:3688 protein_coding YES CCDS55223.1 ENSP00000393312 P11362 UPI0001CE06A3 NM_001174067.1 16/19 Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00219,Superfamily_domains:SSF56112,cd05098 HIGH 1 insertion 1 1 PASS GTG . . 8.673e-06 6.461e-05 38414603 IL9R . GRCh38 chrX 156006081 156006081 + Splice_Site SNP A A G rs180817140 7316-3055 BS_51ZADQ6R A A c.782-2A>G p.X261_splice ENST00000244174 64 53 8 30 30 0 IL9R,splice_acceptor_variant,,ENST00000244174,NM_002186.2;IL9R,splice_acceptor_variant,,ENST00000369423,NM_176786.1;IL9R,downstream_gene_variant,,ENST00000489233,;IL9R,upstream_gene_variant,,ENST00000494962,;AJ271736.1,intron_variant,,ENST00000483543,; G ENSG00000124334 ENST00000244174 Transcript splice_acceptor_variant rs180817140,COSM5757509,COSM5757508,COSM5757507 1 1 IL9R HGNC HGNC:6030 protein_coding YES CCDS14771.4 ENSP00000244174 Q01113 UPI000016864A NM_002186.2 6/8 0,1,1,1 HIGH 1 SNV 1 0,1,1,1 PASS CAG . . 9.793e-05 0.0007891 8.953e-05 0.0001741 3.609e-05 6.501e-05 156006081 RAP1A . GRCh38 chr1 111619936 111619936 + Splice_Site SNP T T G rs1030124422 7316-2195 BS_FD2A9E05 T T c.-28+2T>G ENST00000369709 59 43 12 36 32 1 RAP1A,splice_donor_variant,,ENST00000369709,NM_001291896.1,NM_001010935.2,NM_002884.3;RAP1A,splice_donor_variant,,ENST00000433097,;RAP1A,intron_variant,,ENST00000356415,;,regulatory_region_variant,,ENSR00000011398,; G ENSG00000116473 ENST00000369709 Transcript splice_donor_variant rs1030124422 1 1 RAP1A HGNC HGNC:9855 protein_coding YES CCDS840.1 ENSP00000358723 P62834 A8KAH9 UPI0000001250 NM_001291896.1,NM_001010935.2,NM_002884.3 1/7 HIGH 1 SNV 1 1 PASS GTG . . 111619936 POLR3GL . GRCh38 chr1 145978032 145978034 + In_Frame_Del DEL AAG AAG - rs1485270795 7316-2195 BS_FD2A9E05 AAG AAG c.519_521del p.Glu174del p.E174del ENST00000369314 7/8 74 61 6 37 33 0 POLR3GL,inframe_deletion,p.Glu174del,ENST00000369314,NM_032305.1;POLR3GL,inframe_deletion,p.Glu151del,ENST00000369313,;AC243547.3,downstream_gene_variant,,ENST00000625258,;AC243547.3,downstream_gene_variant,,ENST00000630636,;POLR3GL,non_coding_transcript_exon_variant,,ENST00000622508,;POLR3GL,non_coding_transcript_exon_variant,,ENST00000471706,;,regulatory_region_variant,,ENSR00000012953,; - ENSG00000121851 ENST00000369314 Transcript inframe_deletion 613-615/1165 506-508/657 169-170/218 KE/K aAAGaa/aaa rs1485270795 1 1 POLR3GL HGNC HGNC:28466 protein_coding YES CCDS72875.1 ENSP00000358320 Q9BT43 UPI000006F290 NM_032305.1 7/8 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15367,hmmpanther:PTHR15367:SF4,Pfam_domain:PF11705,PIRSF_domain:PIRSF000777,Gene3D:3.40.50.150 MODERATE 1 deletion 1 13 PASS GAAAGA . . 145978031 PXDN . GRCh38 chr2 1649219 1649219 + Missense_Mutation SNP T T G novel 7316-2195 BS_FD2A9E05 T T c.2561A>C p.Asp854Ala p.D854A ENST00000252804 17/23 70 51 8 48 44 1 PXDN,missense_variant,p.Asp854Ala,ENST00000252804,NM_012293.2;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,; G ENSG00000130508 ENST00000252804 Transcript missense_variant 2612/6808 2561/4440 854/1479 D/A gAc/gCc 1 -1 PXDN HGNC HGNC:14966 protein_coding YES CCDS46221.1 ENSP00000252804 Q92626 UPI00001C1DC2 NM_012293.2 tolerated(0.36) possibly_damaging(0.842) 17/23 Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF75 MODERATE 1 SNV 1 1 PASS GTC . . 1649219 CGREF1 . GRCh38 chr2 27101503 27101503 + Missense_Mutation SNP C C T rs1057389 7316-2195 BS_FD2A9E05 C C c.728G>A p.Gly243Glu p.G243E ENST00000402394 6/6 45 33 9 25 24 0 CGREF1,missense_variant,p.Gly243Glu,ENST00000402394,NM_006569.5;CGREF1,missense_variant,p.Gly243Glu,ENST00000312734,;CGREF1,missense_variant,p.Gly365Glu,ENST00000404694,;CGREF1,missense_variant,p.Gly243Glu,ENST00000405600,NM_001166239.1;CGREF1,intron_variant,,ENST00000260595,;CGREF1,intron_variant,,ENST00000402550,NM_001166240.1;CGREF1,intron_variant,,ENST00000640154,;KHK,downstream_gene_variant,,ENST00000260598,NM_006488.2;KHK,downstream_gene_variant,,ENST00000260599,NM_000221.2;KHK,downstream_gene_variant,,ENST00000429697,;KHK,downstream_gene_variant,,ENST00000490823,;CGREF1,intron_variant,,ENST00000440612,NM_001301324.1;KHK,downstream_gene_variant,,ENST00000464371,;CGREF1,downstream_gene_variant,,ENST00000467539,;KHK,downstream_gene_variant,,ENST00000469936,; T ENSG00000138028 ENST00000402394 Transcript missense_variant 997/1906 728/957 243/318 G/E gGg/gAg rs1057389,COSM6233727,COSM6233726 1 -1 CGREF1 HGNC HGNC:16962 protein_coding YES CCDS33162.2 ENSP00000385452 Q99674 UPI000013D0EB NM_006569.5 tolerated(0.31) benign(0.007) 6/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23104,hmmpanther:PTHR23104:SF11 0,1,1 MODERATE SNV 2 0,1,1 PASS CCC . . 27101503 AC012593.1 . GRCh38 chr2 35174525 35174525 + Splice_Region SNP C C T rs1222124495 7316-2195 BS_FD2A9E05 C C n.194-4C>T ENST00000586952 56 38 8 37 35 0 AC012593.1,splice_region_variant,,ENST00000586952,;AC012593.1,splice_region_variant,,ENST00000587791,;AC012593.1,splice_region_variant,,ENST00000626183,;AC012593.1,downstream_gene_variant,,ENST00000586769,;AC012593.1,downstream_gene_variant,,ENST00000587255,;AC012593.1,downstream_gene_variant,,ENST00000588650,;AC012593.1,downstream_gene_variant,,ENST00000606126,;AC012593.1,downstream_gene_variant,,ENST00000625996,;AC012593.1,downstream_gene_variant,,ENST00000627058,; T ENSG00000226994 ENST00000586952 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1222124495 1 1 AC012593.1 Clone_based_ensembl_gene lincRNA 2/3 LOW 1 SNV 5 PASS TCC . . 35174525 MUC4 . GRCh38 chr3 195781111 195781111 + Missense_Mutation SNP T T G rs757671347 7316-2195 BS_FD2A9E05 T T c.10469A>C p.His3490Pro p.H3490P ENST00000463781 2/25 130 80 22 43 37 1 MUC4,missense_variant,p.His3490Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His3490Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His3490Pro,ENST00000478156,;MUC4,missense_variant,p.His3490Pro,ENST00000466475,;MUC4,missense_variant,p.His3490Pro,ENST00000477756,;MUC4,missense_variant,p.His3490Pro,ENST00000477086,;MUC4,missense_variant,p.His3490Pro,ENST00000480843,;MUC4,missense_variant,p.His3490Pro,ENST00000462323,;MUC4,missense_variant,p.His3490Pro,ENST00000470451,;MUC4,missense_variant,p.His3490Pro,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 10929/17110 10469/16239 3490/5412 H/P cAt/cCt rs757671347,COSM224247 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.29) benign(0.234) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS ATG . . 0.0006005 0.005783 0.0009316 0.002524 0.0001949 0.0003975 0.00106 195781111 MUC7 . GRCh38 chr4 70481343 70481343 + Missense_Mutation SNP A A C rs74904873 7316-2195 BS_FD2A9E05 A A c.599A>C p.Gln200Pro p.Q200P ENST00000413702 4/4 60 43 9 27 26 0 MUC7,missense_variant,p.Gln200Pro,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Gln200Pro,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Gln200Pro,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,; C ENSG00000171195 ENST00000413702 Transcript missense_variant 887/2540 599/1134 200/377 Q/P cAa/cCa rs74904873,COSM124574 1 1 MUC7 HGNC HGNC:7518 protein_coding YES CCDS3541.1 ENSP00000407422 Q8TAX7 UPI000013E9DD NM_001145006.1 tolerated(0.68) benign(0) 4/4 hmmpanther:PTHR41683,mobidb-lite,Low_complexity_(Seg):seg 0.0012 0.0015 0.002 0.001 0.001 0,1 MODERATE 1 SNV 4 0,1 1 PASS CAA . . 0.0001916 0.0004669 0.0002955 0.000897 0.0001162 0.0002439 0.0001993 70481343 CLGN . GRCh38 chr4 140392317 140392317 + Missense_Mutation SNP A A T novel 7316-2195 BS_FD2A9E05 A A c.1553T>A p.Val518Glu p.V518E ENST00000325617 13/15 102 90 6 39 38 0 CLGN,missense_variant,p.Val518Glu,ENST00000325617,NM_004362.2;CLGN,missense_variant,p.Val518Glu,ENST00000414773,NM_001130675.1; T ENSG00000153132 ENST00000325617 Transcript missense_variant 1994/3043 1553/1833 518/610 V/E gTa/gAa 1 -1 CLGN HGNC HGNC:2060 protein_coding YES CCDS3751.1 ENSP00000326699 O14967 A0A140VKG2 UPI0000126E4A NM_004362.2 tolerated(1) benign(0) 13/15 Gene3D:2.60.120.200,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF7 MODERATE 1 SNV 1 PASS TAC . . 140392317 MLXIPL . GRCh38 chr7 73597413 73597413 + Missense_Mutation SNP T T G rs782420994 7316-2195 BS_FD2A9E05 T T c.1372A>C p.Thr458Pro p.T458P ENST00000313375 9/17 46 29 7 27 26 0 MLXIPL,missense_variant,p.Thr458Pro,ENST00000313375,NM_032951.2;MLXIPL,missense_variant,p.Thr365Pro,ENST00000434326,;MLXIPL,missense_variant,p.Thr458Pro,ENST00000414749,NM_032953.2;MLXIPL,missense_variant,p.Thr458Pro,ENST00000354613,NM_032954.2;MLXIPL,missense_variant,p.Thr458Pro,ENST00000429400,NM_032952.2;MLXIPL,downstream_gene_variant,,ENST00000453275,;MLXIPL,missense_variant,p.Thr458Pro,ENST00000345114,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000476404,;MLXIPL,upstream_gene_variant,,ENST00000467221,;MLXIPL,downstream_gene_variant,,ENST00000488212,; G ENSG00000009950 ENST00000313375 Transcript missense_variant 1420/3278 1372/2559 458/852 T/P Acc/Ccc rs782420994,COSM5765935 1 -1 MLXIPL HGNC HGNC:12744 protein_coding YES CCDS5553.1 ENSP00000320886 Q9NP71 UPI0000138F98 NM_032951.2 tolerated(0.23) benign(0.137) 9/17 hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF14,Low_complexity_(Seg):seg benign 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTG . . 0.008368 0.001841 0.008351 0.0113 0.02011 0.005045 0.0119 0.01441 73597413 PCLO . GRCh38 chr7 82966194 82966194 + Missense_Mutation SNP A A T novel 7316-2195 BS_FD2A9E05 A A c.3594T>A p.Ser1198Arg p.S1198R ENST00000333891 4/25 90 79 7 39 38 0 PCLO,missense_variant,p.Ser1198Arg,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ser1198Arg,ENST00000423517,NM_014510.2;PCLO,downstream_gene_variant,,ENST00000461143,; T ENSG00000186472 ENST00000333891 Transcript missense_variant 3932/20329 3594/15429 1198/5142 S/R agT/agA 1 -1 PCLO HGNC HGNC:13406 protein_coding YES CCDS47630.1 ENSP00000334319 Q9Y6V0 UPI0001573469 NM_033026.5 tolerated(0.11) benign(0.001) 4/25 hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,mobidb-lite MODERATE 1 SNV 2 1 PASS TAC . . 82966194 RP1L1 . GRCh38 chr8 10607642 10607642 + Missense_Mutation SNP A A C rs192863038 7316-2195 BS_FD2A9E05 A A c.6456T>G p.Asp2152Glu p.D2152E ENST00000382483 4/4 75 54 16 28 25 1 RP1L1,missense_variant,p.Asp2152Glu,ENST00000382483,NM_178857.5; C ENSG00000183638 ENST00000382483 Transcript missense_variant 6680/7973 6456/7203 2152/2400 D/E gaT/gaG rs192863038,COSM748983 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(1) benign(0) 4/4 mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAT . . 0.002031 0.002335 0.002951 0.002036 0.00335 4.635e-05 0.00162 0.004415 0.003248 10607642 NEFM . GRCh38 chr8 24918219 24918219 + Missense_Mutation SNP T T G rs1399856709 7316-2195 BS_FD2A9E05 T T c.2364T>G p.Ser788Arg p.S788R ENST00000221166 3/3 76 60 10 29 27 0 NEFM,missense_variant,p.Ser788Arg,ENST00000221166,NM_005382.2;NEFM,missense_variant,p.Ser749Arg,ENST00000437366,;NEFM,missense_variant,p.Ser412Arg,ENST00000433454,NM_001105541.1;NEFM,intron_variant,,ENST00000518131,;AF106564.1,upstream_gene_variant,,ENST00000607058,;NEFM,intron_variant,,ENST00000521540,;NEFM,downstream_gene_variant,,ENST00000523467,;,regulatory_region_variant,,ENSR00000330344,; G ENSG00000104722 ENST00000221166 Transcript missense_variant 3146/4020 2364/2751 788/916 S/R agT/agG rs1399856709 1 1 NEFM HGNC HGNC:7734 protein_coding YES CCDS6046.1 ENSP00000221166 P07197 UPI000013C7A9 NM_005382.2 tolerated_low_confidence(0.36) benign(0) 3/3 hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF19,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 6.291e-06 4.279e-05 24918219 MUC5AC . GRCh38 chr11 1188437 1188437 + Missense_Mutation SNP T T C rs1362453772 7316-2195 BS_FD2A9E05 T T c.10292T>C p.Ile3431Thr p.I3431T ENST00000621226 31/49 98 78 11 37 35 0 MUC5AC,missense_variant,p.Ile3431Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; C ENSG00000215182 ENST00000621226 Transcript missense_variant 10339/17448 10292/16965 3431/5654 I/T aTc/aCc rs1362453772 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.61) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 1188437 DGKZ . GRCh38 chr11 46347688 46347688 + Missense_Mutation SNP C C A rs76656670 7316-2195 BS_FD2A9E05 C C c.29C>A p.Ala10Asp p.A10D ENST00000456247 1/31 48 38 7 39 39 0 DGKZ,missense_variant,p.Ala10Asp,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala10Asp,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 117/3482 29/2787 10/928 A/D gCc/gAc rs76656670,COSM228548 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 tolerated_low_confidence(0.59) probably_damaging(0.991) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS GCC . . 0.3023 0.1359 0.2655 0.3276 0.1687 0.35 0.3649 0.3035 0.2366 46347688 FAM186A . GRCh38 chr12 50352916 50352916 + Missense_Mutation SNP T T G rs886143906 7316-2195 BS_FD2A9E05 T T c.3916A>C p.Lys1306Gln p.K1306Q ENST00000327337 4/8 75 52 14 22 19 0 FAM186A,missense_variant,p.Lys1306Gln,ENST00000543111,;FAM186A,missense_variant,p.Lys1306Gln,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 3916/7127 3916/7056 1306/2351 K/Q Aag/Cag rs886143906,COSM6299952 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS TTA . . 0.001439 0.001493 0.002136 0.0004216 0.00503 0.0002081 0.001472 0.001166 0.001405 50352916 LRRIQ1 . GRCh38 chr12 85055798 85055798 + Missense_Mutation SNP T T A 7316-2195 BS_FD2A9E05 T T c.1005T>A p.Asn335Lys p.N335K ENST00000393217 8/27 85 72 8 40 40 0 LRRIQ1,missense_variant,p.Asn335Lys,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,; A ENSG00000133640 ENST00000393217 Transcript missense_variant 1066/5394 1005/5169 335/1722 N/K aaT/aaA COSM6377568,COSM6377567 1 1 LRRIQ1 HGNC HGNC:25708 protein_coding YES CCDS41816.1 ENSP00000376910 Q96JM4 A0A140VJN5 UPI0000ED4E82 NM_001079910.1 tolerated(1) benign(0) 8/27 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR45596,Gene3D:3.80.10.10 1,1 MODERATE 1 SNV 1 1,1 PASS ATC . . 85055798 RILPL1 . GRCh38 chr12 123533464 123533464 + Missense_Mutation SNP A A C novel 7316-2195 BS_FD2A9E05 A A c.19T>G p.Ser7Ala p.S7A ENST00000376874 1/7 43 29 12 17 17 0 RILPL1,missense_variant,p.Ser7Ala,ENST00000376874,NM_001319302.1,NM_001319244.1,NM_178314.4;RILPL1,missense_variant,p.Ser7Ala,ENST00000636882,NM_001319243.1;MIR3908,upstream_gene_variant,,ENST00000579798,;,regulatory_region_variant,,ENSR00000058757,; C ENSG00000188026 ENST00000376874 Transcript missense_variant 255/3932 19/1212 7/403 S/A Tcg/Gcg 1 -1 RILPL1 HGNC HGNC:26814 protein_coding YES CCDS45006.1 ENSP00000366070 Q5EBL4 UPI00004CEC2A NM_001319302.1,NM_001319244.1,NM_178314.4 tolerated_low_confidence(1) benign(0.007) 1/7 hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF6 MODERATE 1 SNV 1 PASS GAC . . 123533464 MOK . GRCh38 chr14 102304960 102304960 + Splice_Site SNP A A C rs759369384 7316-2195 BS_FD2A9E05 A A c.7+2T>G p.X3_splice ENST00000361847 72 55 9 30 29 0 MOK,splice_donor_variant,,ENST00000361847,NM_014226.2,NM_001330234.1;MOK,splice_donor_variant,,ENST00000522874,;MOK,splice_donor_variant,,ENST00000524214,NM_001272011.1;MOK,splice_donor_variant,,ENST00000521493,;MOK,splice_donor_variant,,ENST00000521966,;MOK,splice_donor_variant,,ENST00000523169,;MOK,splice_donor_variant,,ENST00000524019,;MOK,splice_donor_variant,,ENST00000517537,;MOK,splice_donor_variant,,ENST00000518045,;MOK,splice_donor_variant,,ENST00000518399,;MOK,splice_donor_variant,,ENST00000518482,;MOK,splice_donor_variant,,ENST00000518686,;MOK,splice_donor_variant,,ENST00000519569,;MOK,splice_donor_variant,,ENST00000519877,;MOK,splice_donor_variant,,ENST00000520238,;MOK,splice_donor_variant,,ENST00000521388,;MOK,splice_donor_variant,,ENST00000521766,;MOK,splice_donor_variant,,ENST00000522093,;MOK,splice_donor_variant,,ENST00000524207,;MOK,splice_donor_variant,,ENST00000562292,;,regulatory_region_variant,,ENSR00000073363,; C ENSG00000080823 ENST00000361847 Transcript splice_donor_variant rs759369384 1 -1 MOK HGNC HGNC:9833 protein_coding YES CCDS9971.1 ENSP00000355304 Q9UQ07 UPI0000035B77 NM_014226.2,NM_001330234.1 1/11 HIGH 1 SNV 1 PASS CAC . . 8.732e-06 7.37e-05 9.553e-06 102304960 TRIM72 . GRCh38 chr16 31222819 31222819 + Splice_Region SNP A A C rs778799895 7316-2195 BS_FD2A9E05 A A c.741-8A>C ENST00000322122 47 34 9 22 20 1 TRIM72,splice_region_variant,,ENST00000322122,NM_001008274.3;TRIM72,splice_region_variant,,ENST00000613872,; C ENSG00000177238 ENST00000322122 Transcript splice_region_variant,intron_variant rs778799895 1 1 TRIM72 HGNC HGNC:32671 protein_coding YES CCDS32437.1 ENSP00000312675 Q6ZMU5 UPI00001FFF74 NM_001008274.3 5/6 LOW 1 SNV 2 PASS CAC . . 0.04382 0.0336 0.05259 0.034 0.02584 0.102 0.03074 0.04184 0.05097 31222819 MYO15B . GRCh38 chr17 75589387 75589387 + Missense_Mutation SNP C C T rs185791490 7316-2195 BS_FD2A9E05 C C c.1330C>T p.Arg444Cys p.R444C ENST00000610510 1/63 62 43 9 22 19 0 MYO15B,missense_variant,p.Arg444Cys,ENST00000610510,NM_001309242.1;MYO15B,missense_variant,p.Arg444Cys,ENST00000645453,;MYO15B,upstream_gene_variant,,ENST00000578564,;MYO15B,upstream_gene_variant,,ENST00000582561,;MYO15B,missense_variant,p.Arg444Cys,ENST00000621743,;MYO15B,missense_variant,p.Arg444Cys,ENST00000619501,;MYO15B,missense_variant,p.Arg444Cys,ENST00000584516,;MYO15B,upstream_gene_variant,,ENST00000581612,;MYO15B,upstream_gene_variant,,ENST00000581866,;,regulatory_region_variant,,ENSR00000098410,;,TF_binding_site_variant,,MA0470.1,;,TF_binding_site_variant,,MA0541.1,; T ENSG00000266714 ENST00000610510 Transcript missense_variant 1330/9195 1330/9195 444/3064 R/C Cgc/Tgc rs185791490 1 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000488624 A0A0J9YY01 UPI00064546F0 NM_001309242.1 tolerated_low_confidence(0.11) unknown(0) 1/63 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CCG . . 75589387 ODF3L2 . GRCh38 chr19 464149 464149 + Missense_Mutation SNP T T G rs548319616 7316-2195 BS_FD2A9E05 T T c.565A>C p.Thr189Pro p.T189P ENST00000315489 4/4 76 54 16 25 21 0 ODF3L2,missense_variant,p.Thr189Pro,ENST00000315489,NM_182577.2;ODF3L2,missense_variant,p.Thr153Pro,ENST00000382696,;SHC2,upstream_gene_variant,,ENST00000264554,NM_012435.2;SHC2,upstream_gene_variant,,ENST00000590222,;ODF3L2,downstream_gene_variant,,ENST00000591681,;,regulatory_region_variant,,ENSR00000105468,; G ENSG00000181781 ENST00000315489 Transcript missense_variant 801/1604 565/870 189/289 T/P Acc/Ccc rs548319616 1 -1 ODF3L2 HGNC HGNC:26841 protein_coding YES CCDS12027.1 ENSP00000318029 Q3SX64 UPI0000072898 NM_182577.2 tolerated(0.22) benign(0.051) 4/4 Prints_domain:PR01217,hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF0,mobidb-lite 0.0022 0.0038 0.0014 0.001 0.0041 MODERATE 1 SNV 1 PASS GTG . . 0.0003057 0.0003849 0.0002714 0.0008824 0.0001282 0.0002205 0.0003594 0.001385 464149 SF3A2 . GRCh38 chr19 2248077 2248077 + Missense_Mutation SNP A A C rs1441130585 7316-2195 BS_FD2A9E05 A A c.926A>C p.His309Pro p.H309P ENST00000221494 9/9 70 57 9 41 37 0 SF3A2,missense_variant,p.His309Pro,ENST00000221494,NM_007165.4;AMH,upstream_gene_variant,,ENST00000221496,NM_000479.3;JSRP1,downstream_gene_variant,,ENST00000300961,NM_144616.3;SF3A2,downstream_gene_variant,,ENST00000586396,;MIR4321,upstream_gene_variant,,ENST00000592276,;AMH,upstream_gene_variant,,ENST00000592877,;SF3A2,downstream_gene_variant,,ENST00000587637,;SF3A2,downstream_gene_variant,,ENST00000589118,;AMH,upstream_gene_variant,,ENST00000589313,;SF3A2,downstream_gene_variant,,ENST00000590034,;SF3A2,downstream_gene_variant,,ENST00000592314,;SF3A2,downstream_gene_variant,,ENST00000592839,;,regulatory_region_variant,,ENSR00000105829,; C ENSG00000104897 ENST00000221494 Transcript missense_variant 1361/1963 926/1395 309/464 H/P cAc/cCc rs1441130585 1 1 SF3A2 HGNC HGNC:10766 protein_coding YES CCDS12084.1 ENSP00000221494 Q15428 UPI0000135468 NM_007165.4 deleterious_low_confidence(0.01) benign(0) 9/9 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 2248077 SRRM5 . GRCh38 chr19 43613451 43613451 + Missense_Mutation SNP T T A rs201848853 7316-2195 BS_FD2A9E05 T T c.1330T>A p.Tyr444Asn p.Y444N ENST00000607544 3/3 79 64 12 26 25 0 SRRM5,missense_variant,p.Tyr444Asn,ENST00000607544,;SRRM5,missense_variant,p.Tyr444Asn,ENST00000417606,NM_001145641.1;ZNF428,intron_variant,,ENST00000300811,NM_182498.3;ZNF428,intron_variant,,ENST00000598676,;ZNF428,downstream_gene_variant,,ENST00000595304,; A ENSG00000226763 ENST00000607544 Transcript missense_variant 1652/2698 1330/2148 444/715 Y/N Tac/Aac rs201848853,COSM5956593,COSM474846 1 1 SRRM5 HGNC HGNC:37248 protein_coding YES CCDS46095.1 ENSP00000476253 B3KS81 UPI000059D73E tolerated(0.15) benign(0) 3/3 hmmpanther:PTHR39414,mobidb-lite 0.0050 0.0083 0.0058 0.006 0.004 0,1,1 MODERATE SNV 2 0,1,1 PASS CTA . . 0.0009556 0.002277 0.001499 0.0005267 0.002113 0.0007917 0.001234 43613451 PCED1A . GRCh38 chr20 2839089 2839089 + Splice_Region SNP A A C rs916407862 7316-2195 BS_FD2A9E05 A A c.205-7T>G ENST00000360652 57 32 17 21 21 0 PCED1A,splice_region_variant,,ENST00000360652,NM_022760.4;PCED1A,splice_region_variant,,ENST00000439542,;PCED1A,intron_variant,,ENST00000356872,NM_001271168.1;PCED1A,intron_variant,,ENST00000448755,;VPS16,upstream_gene_variant,,ENST00000380445,NM_022575.3;VPS16,upstream_gene_variant,,ENST00000380469,NM_080413.2;VPS16,upstream_gene_variant,,ENST00000417508,;VPS16,upstream_gene_variant,,ENST00000453689,;PCED1A,upstream_gene_variant,,ENST00000474714,;PCED1A,upstream_gene_variant,,ENST00000487501,; C ENSG00000132635 ENST00000360652 Transcript splice_region_variant,intron_variant rs916407862,COSM1615430 1 -1 PCED1A HGNC HGNC:16212 protein_coding YES CCDS13035.1 ENSP00000353868 Q9H1Q7 UPI00001285EE NM_022760.4 3/7 0,1 LOW 1 SNV 1 0,1 PASS CAC . . 0.03093 0.01541 0.005497 0.009191 0.00998 0.07959 0.0461 0.02417 0.005153 2839089 CENPB . GRCh38 chr20 3785907 3785907 + Missense_Mutation SNP T T C rs140102208 7316-2195 BS_FD2A9E05 T T c.577A>G p.Ser193Gly p.S193G ENST00000379751 1/1 78 59 10 62 62 0 CENPB,missense_variant,p.Ser193Gly,ENST00000379751,NM_001810.5;CDC25B,upstream_gene_variant,,ENST00000344256,NM_001287516.1,NM_001287517.1;CDC25B,upstream_gene_variant,,ENST00000379598,NM_001287518.1;SPEF1,upstream_gene_variant,,ENST00000379756,NM_015417.4;SPEF1,upstream_gene_variant,,ENST00000463490,;SPEF1,upstream_gene_variant,,ENST00000471499,;,regulatory_region_variant,,ENSR00000133813,; C ENSG00000125817 ENST00000379751 Transcript missense_variant 784/2840 577/1800 193/599 S/G Agc/Ggc rs140102208 1 -1 CENPB HGNC HGNC:1852 protein_coding YES CCDS13064.1 ENSP00000369075 P07199 UPI00001274F8 NM_001810.5 deleterious(0.02) possibly_damaging(0.703) 1/1 hmmpanther:PTHR45553 0.000379 MODERATE SNV PASS CTG . . 9.257e-05 4.924e-05 0.0001616 0.0001318 3785907 AL442647.1 . GRCh38 chrX 128323681 128323682 + Splice_Region INS - - A rs1390743416 7316-2195 BS_FD2A9E05 - - n.427-8dup ENST00000449485 37 26 7 17 16 0 AL442647.1,splice_region_variant,,ENST00000449485,; A ENSG00000225689 ENST00000449485 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1390743416 1 -1 AL442647.1 Clone_based_ensembl_gene lincRNA YES 3/3 LOW 1 insertion 5 PASS AGA . . 128323681 SLC35E2A . GRCh38 chr1 1734736 1734736 + Missense_Mutation SNP C C T rs61777509 7316-134 BS_KWQ8A6AJ C C c.686G>A p.Arg229His p.R229H ENST00000643905 5/6 56 47 9 26 26 0 SLC35E2A,missense_variant,p.Arg229His,ENST00000643905,NM_182838.2;SLC35E2A,missense_variant,p.Arg229His,ENST00000355439,NM_001199787.1;AL031282.2,non_coding_transcript_exon_variant,,ENST00000598846,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000647043,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000246421,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000475229,;AL031282.1,intron_variant,,ENST00000424604,;AL031282.1,intron_variant,,ENST00000577672,;AL031282.1,downstream_gene_variant,,ENST00000417099,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000643943,;AL031282.1,upstream_gene_variant,,ENST00000418950,; T ENSG00000215790 ENST00000643905 Transcript missense_variant 1109/6293 686/801 229/266 R/H cGt/cAt rs61777509,COSM4142977 1 -1 SLC35E2A HGNC HGNC:20863 protein_coding YES CCDS33.1 ENSP00000495949 UPI000006FA83 NM_182838.2 tolerated_low_confidence(0.23) possibly_damaging(0.477) 5/6 mobidb-lite,hmmpanther:PTHR44413,hmmpanther:PTHR44413:SF1 0,1 MODERATE SNV 0,1 PASS ACG . . 0.3075 0.08801 0.2931 0.3425 0.1221 0.4248 0.3581 0.3075 0.2544 1734736 MEGF6 . GRCh38 chr1 3511693 3511693 + Splice_Region SNP G G A rs374046731 7316-134 BS_KWQ8A6AJ G G c.977-6C>T ENST00000356575 76 51 24 40 40 0 MEGF6,splice_region_variant,,ENST00000294599,;MEGF6,splice_region_variant,,ENST00000356575,NM_001409.3;MEGF6,splice_region_variant,,ENST00000485002,; A ENSG00000162591 ENST00000356575 Transcript splice_region_variant,intron_variant rs374046731,COSM1639849 1 -1 MEGF6 HGNC HGNC:3232 protein_coding YES CCDS41237.1 ENSP00000348982 O75095 UPI0000DACACB NM_001409.3 8/36 0.0002384 0,1 LOW 1 SNV 1 0,1 PASS CGT . . 0.0001316 6.573e-05 0.0001199 0.0001637 0.000185 0.0002636 3511693 SLC7A15P . GRCh38 chr2 20387095 20387095 + Splice_Region SNP C C T rs78622262 7316-134 BS_KWQ8A6AJ C C n.705+5C>T ENST00000424028 78 67 7 28 25 0 SLC7A15P,splice_region_variant,,ENST00000424028,; T ENSG00000232800 ENST00000424028 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs78622262 1 1 SLC7A15P HGNC HGNC:32724 unitary_pseudogene YES 1/5 LOW 1 SNV PASS TCT . . 20387095 HS6ST1 . GRCh38 chr2 128318223 128318223 + Missense_Mutation SNP A A C rs199993343 7316-134 BS_KWQ8A6AJ A A c.341T>G p.Val114Gly p.V114G ENST00000259241 1/2 50 42 8 43 43 0 HS6ST1,missense_variant,p.Val114Gly,ENST00000259241,NM_004807.2;HS6ST1,non_coding_transcript_exon_variant,,ENST00000494089,;HS6ST1,non_coding_transcript_exon_variant,,ENST00000469019,;,regulatory_region_variant,,ENSR00000122968,; C ENSG00000136720 ENST00000259241 Transcript missense_variant 355/3932 341/1236 114/411 V/G gTg/gGg rs199993343,COSM131258 1 -1 HS6ST1 HGNC HGNC:5201 protein_coding YES CCDS42748.1 ENSP00000259241 O60243 UPI0000D61231 NM_004807.2 tolerated(0.34) possibly_damaging(0.679) 1/2 Gene3D:3.40.50.300,Pfam_domain:PF03567,hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF1,Superfamily_domains:SSF52540 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAC . . 0.1165 0.02959 0.1673 0.1178 0.1414 0.162 0.1141 0.111 0.07682 128318223 EPC2 . GRCh38 chr2 148785002 148785003 + Splice_Site DEL GT GT - rs377569045 7316-134 BS_KWQ8A6AJ GT GT c.2351+13_2351+14del p.X784_splice ENST00000258484 80 68 5 43 38 0 EPC2,splice_donor_variant,,ENST00000258484,NM_015630.3; - ENSG00000135999 ENST00000258484 Transcript splice_donor_variant rs377569045,COSM1399865 1 1 EPC2 HGNC HGNC:24543 protein_coding YES CCDS46422.1 ENSP00000258484 Q52LR7 UPI00005A7FE2 NM_015630.3 13/13 0.01336 0.0186 0,1 HIGH 1 deletion 1 12 0,1 PASS AGGTG . . 0.0007887 0.001005 0.001025 0.001189 0.0008143 0.0001251 0.0008794 0.0007639 0.0005756 148785001 SCYGR10 . GRCh38 chr2 227608926 227608926 + Nonstop_Mutation SNP A A G rs563988735 7316-134 BS_KWQ8A6AJ A A c.143A>G p.Ter48TrpextTer? p.*48Wext*? ENST00000641246 1/1 47 34 9 24 21 0 SCYGR10,stop_lost,p.Ter48TrpextTer?,ENST00000641246,;C2orf83,downstream_gene_variant,,ENST00000641422,NM_001162483.1;C2orf83,downstream_gene_variant,,ENST00000642055,NM_020161.3;C2orf83,downstream_gene_variant,,ENST00000264387,;C2orf83,downstream_gene_variant,,ENST00000409066,; G ENSG00000284622 ENST00000641246 Transcript stop_lost 143/144 143/144 48/47 */W tAg/tGg rs563988735 1 1 SCYGR10 HGNC HGNC:34221 protein_coding YES ENSP00000493099 A0A286YEX9 UPI000BAD59B0 1/1 0.1096 0.0605 0.0922 0.2817 0.0328 0.09 HIGH 1 SNV PASS TAG . . 227608926 SCYGR10 . GRCh38 chr2 227608927 227608927 + Nonstop_Mutation SNP G G C rs575523495 7316-134 BS_KWQ8A6AJ G G c.144G>C p.Ter48TyrextTer? p.*48Yext*? ENST00000641246 1/1 46 34 9 24 21 0 SCYGR10,stop_lost,p.Ter48TyrextTer?,ENST00000641246,;C2orf83,downstream_gene_variant,,ENST00000641422,NM_001162483.1;C2orf83,downstream_gene_variant,,ENST00000642055,NM_020161.3;C2orf83,downstream_gene_variant,,ENST00000264387,;C2orf83,downstream_gene_variant,,ENST00000409066,; C ENSG00000284622 ENST00000641246 Transcript stop_lost 144/144 144/144 48/47 */Y taG/taC rs575523495 1 1 SCYGR10 HGNC HGNC:34221 protein_coding YES ENSP00000493099 A0A286YEX9 UPI000BAD59B0 1/1 0.1106 0.0605 0.0922 0.2817 0.0368 0.091 HIGH 1 SNV PASS AGT . . 227608927 PCDHB9 . GRCh38 chr5 141189296 141189296 + Missense_Mutation SNP G G T rs613907 7316-134 BS_KWQ8A6AJ G G c.1978G>T p.Val660Leu p.V660L ENST00000316105 1/1 85 69 14 29 28 0 PCDHB9,missense_variant,p.Val660Leu,ENST00000316105,NM_019119.4;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;AC244517.6,downstream_gene_variant,,ENST00000623884,;PCDHB9,downstream_gene_variant,,ENST00000624909,;AC244517.11,intron_variant,,ENST00000624192,;AC244517.4,intron_variant,,ENST00000624549,;AC244517.4,upstream_gene_variant,,ENST00000624089,;AC244517.7,downstream_gene_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;AC244517.6,downstream_gene_variant,,ENST00000623407,;,regulatory_region_variant,,ENSR00000317581,; T ENSG00000177839 ENST00000316105 Transcript missense_variant 2170/4415 1978/2394 660/797 V/L Gtg/Ttg rs613907 1 1 PCDHB9 HGNC HGNC:8694 protein_coding YES CCDS75328.1 ENSP00000478606 Q9Y5E1 UPI00005764A0 NM_019119.4 deleterious_low_confidence(0.03) benign(0.062) 1/1 Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF128,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 MODERATE SNV PASS CGT . . 0.01819 0.1121 0.01426 0.008042 0.001751 0.02064 0.01914 0.01243 0.002302 141189296 TBP . GRCh38 chr6 170561950 170561952 + In_Frame_Del DEL CAA CAA - rs71815788 7316-134 BS_KWQ8A6AJ CAA CAA c.216_218del p.Gln95del p.Q95del ENST00000392092 3/8 96 88 6 40 40 0 TBP,inframe_deletion,p.Gln95del,ENST00000392092,NM_003194.4;TBP,inframe_deletion,p.Gln95del,ENST00000230354,;TBP,inframe_deletion,p.Gln75del,ENST00000540980,NM_001172085.1;TBP,inframe_deletion,p.Gln95del,ENST00000421512,;TBP,inframe_deletion,p.Gln95del,ENST00000423353,;TBP,intron_variant,,ENST00000616883,;TBP,inframe_deletion,p.Gln95del,ENST00000636632,; - ENSG00000112592 ENST00000392092 Transcript inframe_deletion 493-495/1903 214-216/1020 72/339 Q/- CAA/- rs71815788,COSM69132 1 1 TBP HGNC HGNC:11588 protein_coding YES CCDS5315.1 ENSP00000375942 P20226 UPI0000136C3F NM_003194.4 3/8 Gene3D:2.80.10.50,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10126,hmmpanther:PTHR10126:SF20,Low_complexity_(Seg):seg 0,1 MODERATE 1 deletion 1 2 0,1 1 PASS AGCAAC . . 0.267 0.3828 0.3473 0.2207 0.4385 0.1255 0.2247 0.2774 0.2519 170561949 ZNF92 . GRCh38 chr7 65399230 65399230 + Missense_Mutation SNP T T A rs200450265 7316-134 BS_KWQ8A6AJ T T c.1116T>A p.Asp372Glu p.D372E ENST00000328747 4/4 98 88 8 39 39 0 ZNF92,missense_variant,p.Asp372Glu,ENST00000328747,NM_152626.3;ZNF92,missense_variant,p.Asp340Glu,ENST00000357512,NM_001287532.1;ZNF92,missense_variant,p.Asp303Glu,ENST00000450302,NM_007139.3;ZNF92,missense_variant,p.Asp296Glu,ENST00000431504,NM_001287534.1,NM_001287533.1;,regulatory_region_variant,,ENSR00000212862,; A ENSG00000146757 ENST00000328747 Transcript missense_variant 1315/3210 1116/1761 372/586 D/E gaT/gaA rs200450265,COSM351636 1 1 ZNF92 HGNC HGNC:13168 protein_coding YES CCDS34646.1 ENSP00000332595 Q03936 V9HVY7 UPI0000073CE6 NM_152626.3 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 8.418e-06 3.156e-05 9.163e-06 65399230 GMFB . GRCh38 chr14 54478163 54478163 + Splice_Region SNP T T A rs1270822354 7316-134 BS_KWQ8A6AJ T T c.358-4A>T ENST00000358056 85 75 6 39 38 0 GMFB,splice_region_variant,,ENST00000358056,NM_004124.2;GMFB,splice_region_variant,,ENST00000553333,;GMFB,splice_region_variant,,ENST00000616146,;GMFB,splice_region_variant,,ENST00000628554,;GMFB,3_prime_UTR_variant,,ENST00000554908,;GMFB,downstream_gene_variant,,ENST00000553566,;GMFB,splice_region_variant,,ENST00000554163,;GMFB,splice_region_variant,,ENST00000554247,;GMFB,downstream_gene_variant,,ENST00000553952,;GMFB,downstream_gene_variant,,ENST00000554682,; A ENSG00000197045 ENST00000358056 Transcript splice_region_variant,intron_variant rs1270822354 1 -1 GMFB HGNC HGNC:4373 protein_coding YES CCDS9718.1 ENSP00000350757 P60983 UPI0000161C06 NM_004124.2 6/6 LOW 1 SNV 1 PASS TTA . . 0.003117 0.006112 0.005569 0.003214 0.005272 0.001248 0.003033 0.001305 0.002312 54478163 IGHV2-5 . GRCh38 chr14 106038175 106038175 + Missense_Mutation SNP T T C rs541613869 7316-134 BS_KWQ8A6AJ T T c.85A>G p.Thr29Ala p.T29A ENST00000390597 2/2 116 91 23 40 38 1 IGHV2-5,missense_variant,p.Thr29Ala,ENST00000390597,;IGHVIII-5-1,downstream_gene_variant,,ENST00000523059,; C ENSG00000211937 ENST00000390597 Transcript missense_variant 105/378 85/358 29/119 T/A Acg/Gcg rs541613869 1 -1 IGHV2-5 HGNC HGNC:5576 IG_V_gene YES ENSP00000375006 P01817 UPI00034F23B3 tolerated(0.13) benign(0) 2/2 MODERATE 1 SNV PASS GTA . . 2.06e-05 0.0001991 1.839e-05 106038175 CES1 . GRCh38 chr16 55828879 55828879 + Missense_Mutation SNP T T C rs3826193 7316-134 BS_KWQ8A6AJ T T c.148A>G p.Ile50Val p.I50V ENST00000360526 2/14 114 83 30 42 41 1 CES1,missense_variant,p.Ile49Val,ENST00000422046,NM_001266.4;CES1,missense_variant,p.Ile50Val,ENST00000360526,NM_001025195.1;CES1,missense_variant,p.Ile49Val,ENST00000361503,NM_001025194.1;CES1,upstream_gene_variant,,ENST00000566555,;CES1,intron_variant,,ENST00000563005,;CES1,intron_variant,,ENST00000565403,; C ENSG00000198848 ENST00000360526 Transcript missense_variant 251/2006 148/1707 50/568 I/V Att/Gtt rs3826193,COSM4129126 1 -1 CES1 HGNC HGNC:1863 protein_coding YES CCDS32450.1 ENSP00000353720 P23141 UPI000054B390 NM_001025195.1 tolerated(1) benign(0) 2/14 cd00312,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF361,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 0.1789 0.2433 0.1057 0.1753 0.01895 0.2675 0.2427 0.1664 0.0787 55828879 AC087498.1 . GRCh38 chr17 3386443 3386443 + Missense_Mutation SNP A A C novel 7316-134 BS_KWQ8A6AJ A A c.514A>C p.Thr172Pro p.T172P ENST00000572493 1/1 95 67 25 43 38 3 AC087498.1,missense_variant,p.Thr172Pro,ENST00000572493,;OR3A2,upstream_gene_variant,,ENST00000573491,;OR3A2,upstream_gene_variant,,ENST00000576166,;OR3A2,upstream_gene_variant,,ENST00000573901,; C ENSG00000180042 ENST00000572493 Transcript missense_variant 514/945 514/945 172/314 T/P Acc/Ccc 1 1 AC087498.1 Clone_based_ensembl_gene protein_coding YES ENSP00000492889 A0A286YEU6 UPI000BAD5989 deleterious(0.01) benign(0.247) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF196,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix MODERATE 1 SNV PASS CAC . . 3386443 SLC35G6 . GRCh38 chr17 7482898 7482898 + Missense_Mutation SNP T T C rs200349946 7316-134 BS_KWQ8A6AJ T T c.914T>C p.Val305Ala p.V305A ENST00000412468 2/2 97 87 8 36 36 0 SLC35G6,missense_variant,p.Val305Ala,ENST00000412468,NM_001102614.1;ZBTB4,intron_variant,,ENST00000311403,NM_020899.3;ZBTB4,upstream_gene_variant,,ENST00000380599,NM_001128833.1;POLR2A,upstream_gene_variant,,ENST00000572844,;POLR2A,upstream_gene_variant,,ENST00000617998,NM_000937.4; C ENSG00000259224 ENST00000412468 Transcript missense_variant 1099/1697 914/1017 305/338 V/A gTg/gCg rs200349946,COSM707187 1 1 SLC35G6 HGNC HGNC:31351 protein_coding YES CCDS45603.1 ENSP00000396523 P0C7Q6 UPI000021D25A NM_001102614.1 tolerated(0.36) possibly_damaging(0.484) 2/2 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.04291 0.0223 0.06005 0.02264 0.06187 0.05716 0.04386 0.03002 0.02445 7482898 AP005139.1 . GRCh38 chr18 11328417 11328417 + Splice_Region DEL T T - rs201113901 7316-134 BS_KWQ8A6AJ T T n.1562+14del ENST00000580702 2/3 76 43 15 35 31 0 AP005139.1,splice_region_variant,,ENST00000580702,; - ENSG00000263682 ENST00000580702 Transcript splice_region_variant,non_coding_transcript_exon_variant 1561/1647 rs201113901 1 1 AP005139.1 Clone_based_ensembl_gene unprocessed_pseudogene YES 2/3 LOW 1 deletion 15 PASS TCTT . . 11328416 CYP4F2 . GRCh38 chr19 15878886 15878886 + Missense_Mutation SNP G G C rs3952537 7316-134 BS_KWQ8A6AJ G G c.1448C>G p.Ala483Gly p.A483G ENST00000221700 13/13 74 60 14 34 34 0 CYP4F2,missense_variant,p.Ala483Gly,ENST00000221700,NM_001082.4;CYP4F2,missense_variant,p.Ala483Gly,ENST00000011989,;CYP4F2,3_prime_UTR_variant,,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,; C ENSG00000186115 ENST00000221700 Transcript missense_variant 1544/2407 1448/1563 483/520 A/G gCg/gGg rs3952537,COSM225400 1 -1 CYP4F2 HGNC HGNC:2645 protein_coding YES CCDS12336.1 ENSP00000221700 P78329 UPI0000052BE6 NM_001082.4 deleterious(0.02) benign(0.122) 13/13 hmmpanther:PTHR24291:SF112,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGC . . 0.01051 0.0229 0.004629 0.0278 0.008696 0.02648 0.009563 0.006944 0.001296 15878886 CYP4F2 . GRCh38 chr19 15878920 15878920 + Missense_Mutation SNP T T C rs4020346 7316-134 BS_KWQ8A6AJ T T c.1414A>G p.Thr472Ala p.T472A ENST00000221700 13/13 81 59 21 35 34 1 CYP4F2,missense_variant,p.Thr472Ala,ENST00000221700,NM_001082.4;CYP4F2,missense_variant,p.Thr472Ala,ENST00000011989,;CYP4F2,synonymous_variant,p.Arg68=,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,; C ENSG00000186115 ENST00000221700 Transcript missense_variant 1510/2407 1414/1563 472/520 T/A Acg/Gcg rs4020346,COSM230368 1 -1 CYP4F2 HGNC HGNC:2645 protein_coding YES CCDS12336.1 ENSP00000221700 P78329 UPI0000052BE6 NM_001082.4 tolerated(0.29) benign(0.007) 13/13 hmmpanther:PTHR24291:SF112,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTC . . 0.2375 0.3167 0.2927 0.1846 0.2909 0.2938 0.2256 0.2207 0.1307 15878920 RHPN2 . GRCh38 chr19 32999660 32999660 + Missense_Mutation SNP T T C rs74582927 7316-134 BS_KWQ8A6AJ T T c.1151A>G p.Gln384Arg p.Q384R ENST00000254260 10/15 99 86 10 33 33 0 RHPN2,missense_variant,p.Gln384Arg,ENST00000254260,NM_033103.4;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,non_coding_transcript_exon_variant,,ENST00000544458,;RHPN2,upstream_gene_variant,,ENST00000585641,; C ENSG00000131941 ENST00000254260 Transcript missense_variant 1187/3500 1151/2061 384/686 Q/R cAg/cGg rs74582927,COSM1480906 1 -1 RHPN2 HGNC HGNC:19974 protein_coding YES CCDS12427.1 ENSP00000254260 Q8IUC4 UPI00000747A3 NM_033103.4 deleterious(0.03) probably_damaging(0.982) 10/15 Gene3D:1.25.40.280,Pfam_domain:PF03097,PROSITE_profiles:PS51180,hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF5,SMART_domains:SM01041,cd09249 0.3003 0.2176 0.2401 0.2883 0.32 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 0.2666 0.201 0.1833 0.3284 0.1173 0.3941 0.2996 0.2572 0.2383 32999660 CYP2D6 . GRCh38 chr22 42127481 42127481 + Missense_Mutation SNP C C T rs61731586 7316-134 BS_KWQ8A6AJ C C c.1139G>A p.Arg380His p.R380H ENST00000360608 7/9 80 71 8 42 42 0 CYP2D6,missense_variant,p.Arg377His,ENST00000389970,;CYP2D6,missense_variant,p.Arg380His,ENST00000360608,;CYP2D6,missense_variant,p.Arg380His,ENST00000645508,NM_000106.5;CYP2D6,missense_variant,p.Arg380His,ENST00000645361,;CYP2D6,missense_variant,p.Arg329His,ENST00000359033,NM_001025161.2;NDUFA6-DT,intron_variant,,ENST00000439129,;NDUFA6-DT,downstream_gene_variant,,ENST00000417327,;NDUFA6-DT,downstream_gene_variant,,ENST00000434834,;NDUFA6-DT,downstream_gene_variant,,ENST00000451451,;NDUFA6-DT,downstream_gene_variant,,ENST00000536447,;NDUFA6-DT,downstream_gene_variant,,ENST00000595777,;NDUFA6-DT,downstream_gene_variant,,ENST00000600968,;NDUFA6-DT,downstream_gene_variant,,ENST00000610250,;NDUFA6-DT,upstream_gene_variant,,ENST00000617009,;NDUFA6-DT,downstream_gene_variant,,ENST00000617396,;NDUFA6-DT,upstream_gene_variant,,ENST00000621190,;CYP2D6,3_prime_UTR_variant,,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-DT,downstream_gene_variant,,ENST00000547929,;NDUFA6-DT,downstream_gene_variant,,ENST00000608643,;NDUFA6-DT,downstream_gene_variant,,ENST00000609499,;NDUFA6-DT,downstream_gene_variant,,ENST00000609833,; T ENSG00000100197 ENST00000360608 Transcript missense_variant 1254/1684 1139/1494 380/497 R/H cGt/cAt rs61731586,COSM228757,COSM228756 1 -1 CYP2D6 HGNC HGNC:2625 protein_coding YES CCDS46721.1 ENSP00000353820 P10635 C1ID52 UPI000015772B tolerated(0.07) benign(0.08) 7/9 hmmpanther:PTHR24300:SF1,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS ACG . . 0.0001508 0.000664 0.0003878 4.495e-05 7.196e-05 0.0003655 9.754e-05 42127481 CYP2D6 . GRCh38 chr22 42127503 42127503 + Missense_Mutation SNP C C T rs61737946 7316-134 BS_KWQ8A6AJ C C c.1117G>A p.Gly373Ser p.G373S ENST00000360608 7/9 82 73 9 40 39 0 CYP2D6,missense_variant,p.Gly370Ser,ENST00000389970,;CYP2D6,missense_variant,p.Gly373Ser,ENST00000360608,;CYP2D6,missense_variant,p.Gly373Ser,ENST00000645508,NM_000106.5;CYP2D6,missense_variant,p.Gly373Ser,ENST00000645361,;CYP2D6,missense_variant,p.Gly322Ser,ENST00000359033,NM_001025161.2;NDUFA6-DT,intron_variant,,ENST00000439129,;NDUFA6-DT,downstream_gene_variant,,ENST00000417327,;NDUFA6-DT,downstream_gene_variant,,ENST00000434834,;NDUFA6-DT,downstream_gene_variant,,ENST00000451451,;NDUFA6-DT,downstream_gene_variant,,ENST00000536447,;NDUFA6-DT,downstream_gene_variant,,ENST00000595777,;NDUFA6-DT,downstream_gene_variant,,ENST00000600968,;NDUFA6-DT,downstream_gene_variant,,ENST00000610250,;NDUFA6-DT,upstream_gene_variant,,ENST00000617009,;NDUFA6-DT,downstream_gene_variant,,ENST00000617396,;NDUFA6-DT,upstream_gene_variant,,ENST00000621190,;CYP2D6,3_prime_UTR_variant,,ENST00000360124,;CYP2D6,non_coding_transcript_exon_variant,,ENST00000488442,;NDUFA6-DT,downstream_gene_variant,,ENST00000547929,;NDUFA6-DT,downstream_gene_variant,,ENST00000608643,;NDUFA6-DT,downstream_gene_variant,,ENST00000609499,;NDUFA6-DT,downstream_gene_variant,,ENST00000609833,; T ENSG00000100197 ENST00000360608 Transcript missense_variant 1232/1684 1117/1494 373/497 G/S Ggt/Agt rs61737946,COSM3730230,COSM3730229 1 -1 CYP2D6 HGNC HGNC:2625 protein_coding YES CCDS46721.1 ENSP00000353820 P10635 C1ID52 UPI000015772B tolerated(0.23) benign(0.074) 7/9 hmmpanther:PTHR24300:SF1,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CCC . . 0.001653 0.004018 0.0004925 0.0002069 0.00169 0.003842 0.001634 0.0005803 0.001128 42127503 RLIM . GRCh38 chrX 74591813 74591813 + Missense_Mutation SNP G G A rs200629905 7316-134 BS_KWQ8A6AJ G G c.1502C>T p.Ser501Leu p.S501L ENST00000332687 4/4 43 38 5 13 13 0 RLIM,missense_variant,p.Ser501Leu,ENST00000332687,NM_016120.3;RLIM,missense_variant,p.Ser501Leu,ENST00000349225,NM_183353.2; A ENSG00000131263 ENST00000332687 Transcript missense_variant 1721/8317 1502/1875 501/624 S/L tCa/tTa rs200629905,COSM72445 1 -1 RLIM HGNC HGNC:13429 protein_coding YES CCDS14427.1 ENSP00000328059 Q9NVW2 UPI000006FD6A NM_016120.3 tolerated(0.4) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155 0,1 MODERATE 1 SNV 1 0,1 1 PASS TGA . . 74591813 RLIM . GRCh38 chrX 74591904 74591904 + Missense_Mutation SNP A A G rs201164156 7316-134 BS_KWQ8A6AJ A A c.1411T>C p.Ser471Pro p.S471P ENST00000332687 4/4 54 46 8 16 16 0 RLIM,missense_variant,p.Ser471Pro,ENST00000332687,NM_016120.3;RLIM,missense_variant,p.Ser471Pro,ENST00000349225,NM_183353.2; G ENSG00000131263 ENST00000332687 Transcript missense_variant 1630/8317 1411/1875 471/624 S/P Tca/Cca rs201164156,COSM2155575 1 -1 RLIM HGNC HGNC:13429 protein_coding YES CCDS14427.1 ENSP00000328059 Q9NVW2 UPI000006FD6A NM_016120.3 tolerated(0.26) benign(0.1) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155 0,1 MODERATE 1 SNV 1 0,1 1 PASS GAA . . 0.02121 0.00867 0.0242 0.05187 0.006192 0.02555 0.02201 0.03095 0.01626 74591904 AMOT . GRCh38 chrX 112779249 112779251 + In_Frame_Del DEL CAG CAG - rs749110842 7316-134 BS_KWQ8A6AJ CAG CAG c.2903_2905del p.Ala968del p.A968del ENST00000371959 10/11 57 45 6 31 24 0 AMOT,inframe_deletion,p.Ala968del,ENST00000371959,NM_001113490.1;AMOT,inframe_deletion,p.Ala559del,ENST00000304758,NM_133265.2;AMOT,inframe_deletion,p.Ala968del,ENST00000524145,;AMOT,inframe_deletion,p.Ala736del,ENST00000371962,;AMOT,downstream_gene_variant,,ENST00000371958,;MIR4329,downstream_gene_variant,,ENST00000582643,; - ENSG00000126016 ENST00000371959 Transcript inframe_deletion 2903-2905/7319 2903-2905/3255 968-969/1084 AV/V gCTGtt/gtt rs749110842,COSM1283396,COSM1283395 1 -1 AMOT HGNC HGNC:17810 protein_coding YES CCDS48154.1 ENSP00000361027 Q4VCS5 UPI000050ED33 NM_001113490.1 10/11 Low_complexity_(Seg):seg,hmmpanther:PTHR14826:SF6,hmmpanther:PTHR14826 0.02033 0.027 0,1,1 MODERATE 1 deletion 1 0,1,1 PASS AACAGC . . 0.0003628 0.0005417 0.0005614 0.0001581 0.0004928 0.0002279 0.0003921 6.506e-05 112779248 PRAMEF19 . GRCh38 chr1 13369384 13369384 + Missense_Mutation SNP G G A rs780798639 7316-2664 BS_WDTHGVYN G G c.916C>T p.Arg306Cys p.R306C ENST00000376101 3/3 98 83 13 34 33 0 PRAMEF19,missense_variant,p.Arg306Cys,ENST00000376101,NM_001099790.2; A ENSG00000204480 ENST00000376101 Transcript missense_variant 916/1233 916/1233 306/410 R/C Cgc/Tgc rs780798639 1 -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8 UPI0001661E5E NM_001099790.2 tolerated(0.08) benign(0.005) 3/3 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF76,Superfamily_domains:SSF52047 MODERATE 1 SNV 5 PASS CGG . . 8.137e-06 6.542e-05 8.981e-06 13369384 SPEN . GRCh38 chr1 15933855 15933855 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.7615A>C p.Met2539Leu p.M2539L ENST00000375759 11/15 84 77 5 27 27 0 SPEN,missense_variant,p.Met2539Leu,ENST00000375759,NM_015001.2;SPEN,upstream_gene_variant,,ENST00000487496,; C ENSG00000065526 ENST00000375759 Transcript missense_variant 7819/12232 7615/10995 2539/3664 M/L Atg/Ctg 1 1 SPEN HGNC HGNC:17575 protein_coding YES CCDS164.1 ENSP00000364912 Q96T58 UPI000006FF0C NM_015001.2 deleterious_low_confidence(0) probably_damaging(0.97) 11/15 hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF48 MODERATE 1 SNV 1 1 PASS CAT . . 15933855 ARID1A . GRCh38 chr1 26780410 26780410 + Missense_Mutation SNP T T C 7316-2664 BS_WDTHGVYN T T c.6512T>C p.Leu2171Pro p.L2171P ENST00000324856 20/20 73 64 7 34 34 0 ARID1A,missense_variant,p.Leu2171Pro,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Leu1789Pro,ENST00000636219,;ARID1A,missense_variant,p.Leu1787Pro,ENST00000430799,;ARID1A,missense_variant,p.Leu1788Pro,ENST00000374152,;ARID1A,missense_variant,p.Leu1954Pro,ENST00000457599,NM_139135.2;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;ARID1A,non_coding_transcript_exon_variant,,ENST00000637788,; C ENSG00000117713 ENST00000324856 Transcript missense_variant 6883/8583 6512/6858 2171/2285 L/P cTg/cCg COSM5576248 1 1 ARID1A HGNC HGNC:11110 protein_coding YES CCDS285.1 ENSP00000320485 O14497 UPI0000167B91 NM_006015.4 deleterious(0) probably_damaging(1) 20/20 Gene3D:1.25.10.10,Pfam_domain:PF12031,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Superfamily_domains:SSF48371 1 MODERATE 1 SNV 1 1 1 PASS CTG . . 26780410 KLF18 . GRCh38 chr1 44140026 44140026 + Missense_Mutation SNP T T C rs1351087117 7316-2664 BS_WDTHGVYN T T c.1606A>G p.Thr536Ala p.T536A ENST00000634670 1/2 59 46 6 29 27 0 KLF18,missense_variant,p.Thr536Ala,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; C ENSG00000283039 ENST00000634670 Transcript missense_variant 1606/3159 1606/3159 536/1052 T/A Act/Gct rs1351087117 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.2) benign(0.398) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GTA . . 44140026 RPTN . GRCh38 chr1 152155523 152155523 + Missense_Mutation SNP G G T rs1373195943 7316-2664 BS_WDTHGVYN G G c.1576C>A p.Pro526Thr p.P526T ENST00000316073 3/3 58 48 7 29 28 0 RPTN,missense_variant,p.Pro526Thr,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; T ENSG00000215853 ENST00000316073 Transcript missense_variant 1641/3569 1576/2355 526/784 P/T Cca/Aca rs1373195943,COSM4722791,COSM341811 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGC . . 0.000648 0.001641 0.000782 0.0005607 0.003284 0.0003551 0.0006909 0.0005766 152155523 FLG2 . GRCh38 chr1 152351895 152351895 + Missense_Mutation SNP G G T rs140669858 7316-2664 BS_WDTHGVYN G G c.5891C>A p.Pro1964His p.P1964H ENST00000388718 3/3 93 68 23 41 41 0 FLG2,missense_variant,p.Pro1964His,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 5964/9124 5891/7176 1964/2391 P/H cCc/cAc rs140669858 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0.0004 0.002 MODERATE SNV 5 1 PASS GGG . . 0.0002879 7.781e-05 0.000655 0.0004098 0.0004314 152351895 FLG2 . GRCh38 chr1 152351932 152351932 + Nonsense_Mutation SNP C C A rs1403594309 7316-2664 BS_WDTHGVYN C C c.5854G>T p.Gly1952Ter p.G1952* ENST00000388718 3/3 79 70 8 39 39 0 FLG2,stop_gained,p.Gly1952Ter,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript stop_gained 5927/9124 5854/7176 1952/2391 G/* Gga/Tga rs1403594309,COSM6285886 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 HIGH SNV 5 0,1 1 PASS CCC . . 152351932 FLG2 . GRCh38 chr1 152353047 152353047 + Missense_Mutation SNP G G C rs1255250864 7316-2664 BS_WDTHGVYN G G c.4739C>G p.Thr1580Ser p.T1580S ENST00000388718 3/3 88 70 16 38 36 1 FLG2,missense_variant,p.Thr1580Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 4812/9124 4739/7176 1580/2391 T/S aCt/aGt rs1255250864,COSM1295098 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS AGT . . 152353047 FLG2 . GRCh38 chr1 152353644 152353644 + Missense_Mutation SNP T T C rs867888333 7316-2664 BS_WDTHGVYN T T c.4142A>G p.Glu1381Gly p.E1381G ENST00000388718 3/3 91 81 7 41 38 0 FLG2,missense_variant,p.Glu1381Gly,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 4215/9124 4142/7176 1381/2391 E/G gAa/gGa rs867888333 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS TTC . . 152353644 LOR . GRCh38 chr1 153261154 153261154 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.205T>G p.Ser69Ala p.S69A ENST00000368742 2/2 80 66 6 39 37 0 LOR,missense_variant,p.Ser69Ala,ENST00000368742,NM_000427.2;,regulatory_region_variant,,ENSR00000013778,;,TF_binding_site_variant,,MA0162.2,; G ENSG00000203782 ENST00000368742 Transcript missense_variant 262/1230 205/939 69/312 S/A Tcc/Gcc 1 1 LOR HGNC HGNC:6663 protein_coding YES CCDS30870.1 ENSP00000357731 P23490 UPI0000470BBD NM_000427.2 possibly_damaging(0.775) 2/2 Low_complexity_(Seg):seg,hmmpanther:PTHR39228,Pfam_domain:PF15847 MODERATE 1 SNV 1 1 PASS CTC . . 153261154 F5 . GRCh38 chr1 169541264 169541264 + Missense_Mutation SNP G G T rs140018525 7316-2664 BS_WDTHGVYN G G c.3826C>A p.Leu1276Ile p.L1276I ENST00000367797 13/25 45 37 6 39 39 0 F5,missense_variant,p.Leu1281Ile,ENST00000367796,;F5,missense_variant,p.Leu1276Ile,ENST00000367797,NM_000130.4; T ENSG00000198734 ENST00000367797 Transcript missense_variant 4028/7024 3826/6675 1276/2224 L/I Ctt/Att rs140018525,COSM3802776 1 -1 F5 HGNC HGNC:3542 protein_coding YES CCDS1281.1 ENSP00000356771 P12259 UPI000016A8CE NM_000130.4 tolerated_low_confidence(0.2) benign(0.196) 13/25 PIRSF_domain:PIRSF000354,hmmpanther:PTHR45199,hmmpanther:PTHR45199 0.0002 0.0014 0,1 MODERATE 1 SNV 1 0,1 1 PASS AGG . . 2.441e-05 0.0002618 5.967e-05 169541264 KIF26B . GRCh38 chr1 245156672 245156672 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.454T>G p.Phe152Val p.F152V ENST00000407071 2/15 90 78 9 41 41 0 KIF26B,missense_variant,p.Phe152Val,ENST00000407071,NM_018012.3;,regulatory_region_variant,,ENSR00000257639,; G ENSG00000162849 ENST00000407071 Transcript missense_variant 894/7287 454/6327 152/2108 F/V Ttc/Gtc 1 1 KIF26B HGNC HGNC:25484 protein_coding YES CCDS44342.1 ENSP00000385545 Q2KJY2 UPI0000695D71 NM_018012.3 tolerated(0.5) benign(0) 2/15 MODERATE 1 SNV 1 PASS CTT . . 245156672 ZFP36L2 . GRCh38 chr2 43224886 43224886 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.918T>G p.Cys306Trp p.C306W ENST00000282388 2/2 82 63 14 23 23 0 ZFP36L2,missense_variant,p.Cys306Trp,ENST00000282388,NM_006887.4;LINC01126,upstream_gene_variant,,ENST00000623515,;AC010883.1,upstream_gene_variant,,ENST00000423354,;,regulatory_region_variant,,ENSR00000116141,; C ENSG00000152518 ENST00000282388 Transcript missense_variant 1212/3696 918/1485 306/494 C/W tgT/tgG 1 -1 ZFP36L2 HGNC HGNC:1108 protein_coding YES CCDS1811.1 ENSP00000282388 P47974 UPI000013DCDA NM_006887.4 deleterious(0.02) possibly_damaging(0.712) 2/2 hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF100,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 43224886 SIX3 . GRCh38 chr2 44942259 44942259 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.155A>C p.Asn52Thr p.N52T ENST00000260653 1/2 84 68 14 26 25 1 SIX3,missense_variant,p.Asn52Thr,ENST00000260653,NM_005413.3;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;LINC01833,upstream_gene_variant,,ENST00000437916,;LINC01833,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;RF02250,downstream_gene_variant,,ENST00000611000,;RF02251,downstream_gene_variant,,ENST00000620790,;RF02252,downstream_gene_variant,,ENST00000621512,;,regulatory_region_variant,,ENSR00000116339,; C ENSG00000138083 ENST00000260653 Transcript missense_variant 362/2523 155/999 52/332 N/T aAc/aCc 1 1 SIX3 HGNC HGNC:10889 protein_coding YES CCDS1821.1 ENSP00000260653 O95343 UPI00001359C4 NM_005413.3 tolerated_low_confidence(0.63) benign(0) 1/2 hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 44942259 HTRA2 . GRCh38 chr2 74530322 74530322 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.316T>G p.Trp106Gly p.W106G ENST00000258080 1/8 105 87 12 39 38 1 HTRA2,missense_variant,p.Trp106Gly,ENST00000258080,NM_013247.4;HTRA2,missense_variant,p.Trp93Gly,ENST00000437202,NM_001321728.1,NM_001321727.1;HTRA2,missense_variant,p.Trp106Gly,ENST00000352222,NM_145074.2;LOXL3,downstream_gene_variant,,ENST00000264094,NM_032603.3;AUP1,upstream_gene_variant,,ENST00000377526,NM_181575.4;LOXL3,downstream_gene_variant,,ENST00000393937,NM_001289165.1,NM_001289164.1;DQX1,upstream_gene_variant,,ENST00000393951,;DQX1,upstream_gene_variant,,ENST00000404568,NM_133637.2;LOXL3,downstream_gene_variant,,ENST00000409249,;LOXL3,downstream_gene_variant,,ENST00000409549,;LOXL3,downstream_gene_variant,,ENST00000409986,;DQX1,upstream_gene_variant,,ENST00000451518,;HTRA2,intron_variant,,ENST00000462909,;HTRA2,intron_variant,,ENST00000467961,;HTRA2,intron_variant,,ENST00000484881,;LOXL3,downstream_gene_variant,,ENST00000481835,;DQX1,upstream_gene_variant,,ENST00000498552,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484352,;AUP1,upstream_gene_variant,,ENST00000425118,;AUP1,upstream_gene_variant,,ENST00000462297,;AUP1,upstream_gene_variant,,ENST00000463900,;AUP1,upstream_gene_variant,,ENST00000464887,;HTRA2,upstream_gene_variant,,ENST00000465521,;AUP1,upstream_gene_variant,,ENST00000466894,;LOXL3,downstream_gene_variant,,ENST00000470907,;AUP1,upstream_gene_variant,,ENST00000472800,;DQX1,upstream_gene_variant,,ENST00000473508,;HTRA2,upstream_gene_variant,,ENST00000482205,;HTRA2,upstream_gene_variant,,ENST00000482331,;AUP1,upstream_gene_variant,,ENST00000486234,;,regulatory_region_variant,,ENSR00000119180,; G ENSG00000115317 ENST00000258080 Transcript missense_variant 946/2370 316/1377 106/458 W/G Tgg/Ggg 1 1 HTRA2 HGNC HGNC:14348 protein_coding YES CCDS1951.1 ENSP00000258080 O43464 UPI000012CB84 NM_013247.4 deleterious(0.01) possibly_damaging(0.614) 1/8 Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTG . . 74530322 NBEAL1 . GRCh38 chr2 203014981 203014981 + Splice_Region SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.-231A>C ENST00000449802 1/55 82 68 14 32 32 0 NBEAL1,splice_region_variant,,ENST00000449802,NM_001114132.1;NBEAL1,splice_region_variant,,ENST00000478884,;WDR12,upstream_gene_variant,,ENST00000477723,;NBEAL1,upstream_gene_variant,,ENST00000492870,;NBEAL1,splice_region_variant,,ENST00000497505,;NBEAL1,upstream_gene_variant,,ENST00000460416,;,regulatory_region_variant,,ENSR00000128994,; C ENSG00000144426 ENST00000449802 Transcript splice_region_variant,5_prime_UTR_variant 103/10938 1 1 NBEAL1 HGNC HGNC:20681 protein_coding YES CCDS46495.1 ENSP00000399903 Q6ZS30 UPI000194EC27 NM_001114132.1 1/55 LOW 1 SNV 5 PASS AAT . . 203014981 CHPF . GRCh38 chr2 219543370 219543370 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.169A>C p.Asn57His p.N57H ENST00000243776 1/4 96 85 9 38 38 0 CHPF,missense_variant,p.Asn57His,ENST00000243776,NM_024536.5;CHPF,missense_variant,p.Asn57His,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000344458,NM_001303098.1;ASIC4,downstream_gene_variant,,ENST00000347842,NM_182847.2;ASIC4,downstream_gene_variant,,ENST00000358078,NM_018674.5;TMEM198,upstream_gene_variant,,ENST00000373883,NM_001005209.2;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000451952,;CHPF,upstream_gene_variant,,ENST00000535926,NM_001195731.1;AC009955.3,downstream_gene_variant,,ENST00000596829,;ASIC4,downstream_gene_variant,,ENST00000474489,;,regulatory_region_variant,,ENSR00000130573,; G ENSG00000123989 ENST00000243776 Transcript missense_variant 418/3013 169/2328 57/775 N/H Aac/Cac 1 -1 CHPF HGNC HGNC:24291 protein_coding YES CCDS2443.1 ENSP00000243776 Q8IZ52 UPI00001AE6D6 NM_024536.5 tolerated(0.09) benign(0.188) 1/4 hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF22,mobidb-lite MODERATE 1 SNV 1 PASS TTG . . 219543370 CACNA2D2 . GRCh38 chr3 50374797 50374797 + Missense_Mutation SNP G G A novel 7316-2664 BS_WDTHGVYN G G c.1924C>T p.Pro642Ser p.P642S ENST00000479441 22/39 73 46 23 31 30 0 CACNA2D2,missense_variant,p.Pro642Ser,ENST00000266039,NM_001005505.2;CACNA2D2,missense_variant,p.Pro642Ser,ENST00000423994,;CACNA2D2,missense_variant,p.Pro642Ser,ENST00000429770,;CACNA2D2,missense_variant,p.Pro573Ser,ENST00000360963,NM_001291101.1;CACNA2D2,missense_variant,p.Pro642Ser,ENST00000424201,NM_006030.3;CACNA2D2,missense_variant,p.Pro642Ser,ENST00000479441,NM_001174051.2; A ENSG00000007402 ENST00000479441 Transcript missense_variant 1924/3453 1924/3453 642/1150 P/S Cca/Tca 1 -1 CACNA2D2 HGNC HGNC:1400 protein_coding YES CCDS54588.1 ENSP00000418081 Q9NY47 UPI0000E5A6AF NM_001174051.2 deleterious(0.01) probably_damaging(0.996) 22/39 Gene3D:3.30.450.20,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF7 MODERATE 1 SNV 1 PASS GGG . . 50374797 PIK3CB . GRCh38 chr3 138694789 138694789 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.1889T>G p.Met630Arg p.M630R ENST00000289153 12/22 50 44 5 31 31 0 PIK3CB,missense_variant,p.Met630Arg,ENST00000289153,NM_006219.2;PIK3CB,missense_variant,p.Met630Arg,ENST00000477593,;PIK3CB,missense_variant,p.Met76Arg,ENST00000544716,NM_001256045.1;PIK3CB,missense_variant,p.Met262Arg,ENST00000493568,;PIK3CB,missense_variant,p.Met162Arg,ENST00000473435,;PIK3CB,3_prime_UTR_variant,,ENST00000462898,;PIK3CB,3_prime_UTR_variant,,ENST00000469284,;PIK3CB,non_coding_transcript_exon_variant,,ENST00000481749,;,regulatory_region_variant,,ENSR00000159043,; C ENSG00000051382 ENST00000289153 Transcript missense_variant 1905/5919 1889/3213 630/1070 M/R aTg/aGg 1 -1 PIK3CB HGNC HGNC:8976 protein_coding YES CCDS3104.1 ENSP00000289153 P42338 UPI0000046842 NM_006219.2 deleterious(0) possibly_damaging(0.745) 12/22 PROSITE_profiles:PS51545,cd00872,hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048,Gene3D:1.25.40.70,Pfam_domain:PF00613,PIRSF_domain:PIRSF000587,SMART_domains:SM00145,Superfamily_domains:SSF48371 MODERATE 1 SNV 1 1 PASS CAT . . 138694789 ATP11B . GRCh38 chr3 182793760 182793760 + Translation_Start_Site SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.1A>C p.Met1? p.M1? ENST00000323116 1/30 87 70 13 24 23 0 ATP11B,start_lost,p.Met1?,ENST00000323116,NM_014616.2;ATP11B,start_lost,p.Met1?,ENST00000493826,;AC069431.1,upstream_gene_variant,,ENST00000488882,;,regulatory_region_variant,,ENSR00000162738,; C ENSG00000058063 ENST00000323116 Transcript start_lost 261/7325 1/3534 1/1177 M/L Atg/Ctg 1 1 ATP11B HGNC HGNC:13553 protein_coding YES CCDS33896.1 ENSP00000321195 Q9Y2G3 UPI000004124E NM_014616.2 tolerated_low_confidence(0.11) benign(0.267) 1/30 HIGH 1 SNV 2 PASS AAT . . 182793760 VWA5B2 . GRCh38 chr3 184230644 184230644 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.116A>C p.Asn39Thr p.N39T ENST00000426955 1/19 114 94 14 33 33 0 VWA5B2,missense_variant,p.Asn39Thr,ENST00000426955,NM_138345.2;VWA5B2,upstream_gene_variant,,ENST00000273794,NM_001320373.1;VWA5B2,upstream_gene_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000474580,;VWA5B2,upstream_gene_variant,,ENST00000497229,;,regulatory_region_variant,,ENSR00000162897,; C ENSG00000145198 ENST00000426955 Transcript missense_variant 216/4120 116/3729 39/1242 N/T aAc/aCc 1 1 VWA5B2 HGNC HGNC:25144 protein_coding YES CCDS54686.1 ENSP00000398688 Q8N398 UPI0000412DE9 NM_138345.2 deleterious(0) probably_damaging(0.998) 1/19 Pfam_domain:PF13757,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107 MODERATE 1 SNV 1 PASS AAC . . 184230644 MUC4 . GRCh38 chr3 195786692 195786692 + Missense_Mutation SNP T T A 7316-2664 BS_WDTHGVYN T T c.4888A>T p.Thr1630Ser p.T1630S ENST00000463781 2/25 54 34 7 27 25 0 MUC4,missense_variant,p.Thr1630Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr1630Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr1630Ser,ENST00000478156,;MUC4,missense_variant,p.Thr1630Ser,ENST00000466475,;MUC4,missense_variant,p.Thr1630Ser,ENST00000477756,;MUC4,missense_variant,p.Thr1630Ser,ENST00000477086,;MUC4,missense_variant,p.Thr1630Ser,ENST00000480843,;MUC4,missense_variant,p.Thr1630Ser,ENST00000462323,;MUC4,missense_variant,p.Thr1630Ser,ENST00000470451,;MUC4,missense_variant,p.Thr1630Ser,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 5348/17110 4888/16239 1630/5412 T/S Acc/Tcc COSM4322729 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.57) benign(0.301) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS GTG . . 195786692 AC116565.1 . GRCh38 chr4 575814 575814 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.249A>C p.Glu83Asp p.E83D ENST00000610212 1/1 73 56 13 32 30 0 AC116565.1,missense_variant,p.Glu83Asp,ENST00000610212,;AC116565.2,upstream_gene_variant,,ENST00000637674,; G ENSG00000273238 ENST00000610212 Transcript missense_variant 487/2421 249/1158 83/385 E/D gaA/gaC 1 -1 AC116565.1 Clone_based_ensembl_gene protein_coding YES ENSP00000493161 A0A286YF58 UPI00024CAC03 benign(0) 1/1 mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS GTT . . 575814 MUC7 . GRCh38 chr4 70481399 70481399 + Missense_Mutation SNP C C A rs41454651 7316-2664 BS_WDTHGVYN C C c.655C>A p.Pro219Thr p.P219T ENST00000413702 4/4 60 44 9 35 32 0 MUC7,missense_variant,p.Pro219Thr,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Pro219Thr,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Pro219Thr,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,; A ENSG00000171195 ENST00000413702 Transcript missense_variant 943/2540 655/1134 219/377 P/T Cct/Act rs41454651,COSM4159159 1 1 MUC7 HGNC HGNC:7518 protein_coding YES CCDS3541.1 ENSP00000407422 Q8TAX7 UPI000013E9DD NM_001145006.1 tolerated(0.43) benign(0) 4/4 hmmpanther:PTHR41683,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 4 0,1 1 PASS TCC . . 70481399 RICTOR . GRCh38 chr5 39074107 39074107 + Splice_Region SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.97+4A>C ENST00000296782 90 75 12 38 37 0 RICTOR,splice_region_variant,,ENST00000296782,NM_001285439.1;RICTOR,splice_region_variant,,ENST00000357387,NM_152756.4,NM_001285440.1;RICTOR,intron_variant,,ENST00000514735,;RICTOR,splice_region_variant,,ENST00000511516,;RICTOR,splice_region_variant,,ENST00000513566,;RICTOR,intron_variant,,ENST00000510711,;,regulatory_region_variant,,ENSR00000179823,; G ENSG00000164327 ENST00000296782 Transcript splice_region_variant,intron_variant 1 -1 RICTOR HGNC HGNC:28611 protein_coding YES CCDS68861.1 ENSP00000296782 Q6R327 UPI0000EE67F5 NM_001285439.1 2/38 LOW 1 SNV 1 PASS GTT . . 39074107 FOXF2 . GRCh38 chr6 1390800 1390800 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.853A>C p.Met285Leu p.M285L ENST00000645481 1/2 84 64 12 36 35 1 FOXF2,missense_variant,p.Met285Leu,ENST00000645481,;FOXF2,missense_variant,p.Met285Leu,ENST00000259806,NM_001452.1;MIR6720,upstream_gene_variant,,ENST00000611664,; C ENSG00000137273 ENST00000645481 Transcript missense_variant 1225/2447 853/1335 285/444 M/L Atg/Ctg 1 1 FOXF2 HGNC HGNC:3810 protein_coding YES CCDS4472.1 ENSP00000496415 UPI000012ADD6 deleterious(0.04) benign(0.241) 1/2 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF125,mobidb-lite MODERATE 1 SNV PASS CAT . . 1390800 MDC1 . GRCh38 chr6 30704891 30704891 + Missense_Mutation SNP T T C rs1473032870 7316-2664 BS_WDTHGVYN T T c.4292A>G p.Gln1431Arg p.Q1431R ENST00000376406 10/15 76 52 13 47 46 0 MDC1,missense_variant,p.Gln1431Arg,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; C ENSG00000137337 ENST00000376406 Transcript missense_variant 4940/7576 4292/6270 1431/2089 Q/R cAg/cGg rs1473032870 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(0.91) benign(0.056) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS CTG . . 4.334e-06 3.319e-05 30704891 MUCL3 . GRCh38 chr6 30950728 30950728 + Missense_Mutation SNP C C T rs1442631766 7316-2664 BS_WDTHGVYN C C c.2264C>T p.Ser755Phe p.S755F ENST00000462446 2/3 69 53 10 29 27 0 MUCL3,missense_variant,p.Ser822Phe,ENST00000636043,;MUCL3,missense_variant,p.Ser755Phe,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; T ENSG00000168631 ENST00000462446 Transcript missense_variant 2292/5314 2264/4182 755/1393 S/F tCc/tTc rs1442631766 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 deleterious(0.01) benign(0) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS TCC . . 30950728 MUC21 . GRCh38 chr6 30986977 30986977 + Missense_Mutation SNP G G T 7316-2664 BS_WDTHGVYN G G c.802G>T p.Gly268Cys p.G268C ENST00000376296 2/3 64 46 9 22 18 0 MUC21,missense_variant,p.Gly268Cys,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,; T ENSG00000204544 ENST00000376296 Transcript missense_variant 1043/3651 802/1701 268/566 G/C Ggc/Tgc COSM451188 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 deleterious(0) possibly_damaging(0.574) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR39408,hmmpanther:PTHR39408,Pfam_domain:PF05647 1 MODERATE 1 SNV 1 1 PASS CGG . . 30986977 SRF . GRCh38 chr6 43171774 43171774 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.118A>C p.Asn40His p.N40H ENST00000265354 1/7 99 90 8 28 28 0 SRF,missense_variant,p.Asn40His,ENST00000265354,NM_001292001.1,NM_003131.3;,regulatory_region_variant,,ENSR00000197100,; C ENSG00000112658 ENST00000265354 Transcript missense_variant 476/4202 118/1527 40/508 N/H Aac/Cac 1 1 SRF HGNC HGNC:11291 protein_coding YES CCDS4889.1 ENSP00000265354 P11831 A0A024RD16 UPI0000135F3B NM_001292001.1,NM_003131.3 tolerated_low_confidence(0.1) possibly_damaging(0.69) 1/7 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS TAA . . 43171774 CGAS . GRCh38 chr6 73451934 73451934 + Missense_Mutation SNP T T A novel 7316-2664 BS_WDTHGVYN T T c.248A>T p.Lys83Met p.K83M ENST00000370315 1/5 97 83 9 40 39 0 CGAS,missense_variant,p.Lys83Met,ENST00000370315,NM_138441.2;CGAS,missense_variant,p.Lys83Met,ENST00000370318,;,regulatory_region_variant,,ENSR00000198842,; A ENSG00000164430 ENST00000370315 Transcript missense_variant 343/3182 248/1569 83/522 K/M aAg/aTg 1 -1 CGAS HGNC HGNC:21367 protein_coding YES CCDS4978.1 ENSP00000359339 Q8N884 UPI00001AEC2D NM_138441.2 deleterious(0.01) possibly_damaging(0.867) 1/5 hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF35,mobidb-lite MODERATE 1 SNV 1 PASS CTT . . 73451934 NT5E . GRCh38 chr6 85450186 85450186 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.47T>G p.Leu16Arg p.L16R ENST00000257770 1/9 105 81 11 37 36 0 NT5E,missense_variant,p.Leu16Arg,ENST00000369651,NM_001204813.1;NT5E,missense_variant,p.Leu16Arg,ENST00000257770,NM_002526.3;NT5E,missense_variant,p.Leu16Arg,ENST00000369646,;,regulatory_region_variant,,ENSR00000199700,; G ENSG00000135318 ENST00000257770 Transcript missense_variant 96/3548 47/1725 16/574 L/R cTg/cGg 1 1 NT5E HGNC HGNC:8021 protein_coding YES CCDS5002.1 ENSP00000257770 P21589 UPI0000124F48 NM_002526.3 deleterious(0.01) benign(0.445) 1/9 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS CTG . . 85450186 MYB . GRCh38 chr6 135181540 135181540 + Splice_Region SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.23+4A>C ENST00000341911 87 70 12 33 33 0 MYB,splice_region_variant,,ENST00000316528,;MYB,splice_region_variant,,ENST00000341911,NM_001130173.1;MYB,splice_region_variant,,ENST00000367814,NM_005375.3;MYB,splice_region_variant,,ENST00000420123,;MYB,splice_region_variant,,ENST00000442647,NM_001130172.1;MYB,splice_region_variant,,ENST00000525369,NM_001161657.1;MYB,splice_region_variant,,ENST00000527615,;MYB,splice_region_variant,,ENST00000528774,NM_001161656.1;MYB,splice_region_variant,,ENST00000533624,NM_001161660.1;MYB,splice_region_variant,,ENST00000534044,NM_001161659.1;MYB,splice_region_variant,,ENST00000534121,NM_001161658.1;MYB,splice_region_variant,,ENST00000616088,;MYB,splice_region_variant,,ENST00000618728,;MYB,upstream_gene_variant,,ENST00000430686,;MYB,upstream_gene_variant,,ENST00000531845,;MYB,splice_region_variant,,ENST00000339290,;MYB,splice_region_variant,,ENST00000367812,;MYB,splice_region_variant,,ENST00000438901,;MYB,splice_region_variant,,ENST00000463282,;MYB,splice_region_variant,,ENST00000524588,;MYB,splice_region_variant,,ENST00000525002,;MYB,splice_region_variant,,ENST00000525477,;MYB,splice_region_variant,,ENST00000525514,;MYB,splice_region_variant,,ENST00000525940,;MYB,splice_region_variant,,ENST00000526187,;MYB,splice_region_variant,,ENST00000526320,;MYB,splice_region_variant,,ENST00000526565,;MYB,splice_region_variant,,ENST00000526889,;MYB,splice_region_variant,,ENST00000528015,;MYB,splice_region_variant,,ENST00000528140,;MYB,splice_region_variant,,ENST00000528343,;MYB,splice_region_variant,,ENST00000528345,;MYB,splice_region_variant,,ENST00000529262,;MYB,splice_region_variant,,ENST00000529586,;MYB,splice_region_variant,,ENST00000531519,;MYB,splice_region_variant,,ENST00000531634,;MYB,splice_region_variant,,ENST00000531737,;MYB,splice_region_variant,,ENST00000533384,;MYB,splice_region_variant,,ENST00000533808,;MYB,splice_region_variant,,ENST00000533837,;,regulatory_region_variant,,ENSR00000203343,; C ENSG00000118513 ENST00000341911 Transcript splice_region_variant,intron_variant 1 1 MYB HGNC HGNC:7545 protein_coding YES CCDS47481.1 ENSP00000339992 P10242 UPI000002AE9A NM_001130173.1 1/15 LOW 1 SNV 1 1 PASS AAC . . 135181540 KIF25 . GRCh38 chr6 168029668 168029668 + Missense_Mutation SNP A A T rs4708626 7316-2664 BS_WDTHGVYN A A c.83A>T p.Lys28Met p.K28M ENST00000643607 6/13 87 72 10 35 34 0 KIF25,missense_variant,p.Lys28Met,ENST00000643607,;KIF25,missense_variant,p.Lys28Met,ENST00000443060,;KIF25,missense_variant,p.Lys28Met,ENST00000354419,NM_030615.2;KIF25,missense_variant,p.Lys28Met,ENST00000351261,NM_005355.3;KIF25,upstream_gene_variant,,ENST00000496008,;KIF25,downstream_gene_variant,,ENST00000515361,;KIF25,non_coding_transcript_exon_variant,,ENST00000644536,;KIF25,non_coding_transcript_exon_variant,,ENST00000645382,;KIF25,upstream_gene_variant,,ENST00000504593,; T ENSG00000125337 ENST00000643607 Transcript missense_variant 1350/2498 83/1155 28/384 K/M aAg/aTg rs4708626,COSM1754654 1 1 KIF25 HGNC HGNC:6390 protein_coding YES CCDS5305.1 ENSP00000496229 UPI000012DDAB tolerated(0.06) benign(0.001) 6/13 PROSITE_profiles:PS50067,Gene3D:3.40.850.10,SMART_domains:SM00129 0,1 MODERATE 1 SNV 0,1 PASS AAG . . 0.01596 0.04187 0.03542 0.01131 0.07176 0.003256 0.009808 0.01937 0.01192 168029668 CDK13 . GRCh38 chr7 39951161 39951161 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.520A>C p.Thr174Pro p.T174P ENST00000181839 1/14 109 89 16 23 23 0 CDK13,missense_variant,p.Thr174Pro,ENST00000181839,NM_003718.4;CDK13,missense_variant,p.Thr174Pro,ENST00000340829,NM_031267.3;CDK13,missense_variant,p.Thr49Pro,ENST00000643868,;CDK13,5_prime_UTR_variant,,ENST00000613626,;CDK13,upstream_gene_variant,,ENST00000611390,;CDK13,upstream_gene_variant,,ENST00000643859,;CDK13,upstream_gene_variant,,ENST00000646039,;AC072061.1,upstream_gene_variant,,ENST00000569710,;,regulatory_region_variant,,ENSR00000211251,; C ENSG00000065883 ENST00000181839 Transcript missense_variant 1516/10135 520/4539 174/1512 T/P Acg/Ccg 1 1 CDK13 HGNC HGNC:1733 protein_coding YES CCDS5461.1 ENSP00000181839 Q14004 A0A024RA85 UPI000013C5E3 NM_003718.4 tolerated_low_confidence(0.18) benign(0.021) 1/14 hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 39951161 LINC01448 . GRCh38 chr7 42706230 42706230 + Splice_Site SNP C C A novel 7316-2664 BS_WDTHGVYN C C n.217+1G>T ENST00000455947 82 59 23 45 45 0 LINC01448,splice_donor_variant,,ENST00000455947,; A ENSG00000238284 ENST00000455947 Transcript splice_donor_variant,non_coding_transcript_variant 1 -1 LINC01448 HGNC HGNC:50790 lincRNA YES 1/2 HIGH 1 SNV 1 PASS ACC . . 42706230 ZNF727 . GRCh38 chr7 64078399 64078399 + Missense_Mutation SNP G G T 7316-2664 BS_WDTHGVYN G G c.1350G>T p.Lys450Asn p.K450N ENST00000456806 4/4 74 65 6 51 50 0 ZNF727,missense_variant,p.Lys450Asn,ENST00000456806,NM_001159522.1; T ENSG00000214652 ENST00000456806 Transcript missense_variant 1529/1679 1350/1500 450/499 K/N aaG/aaT COSM1472048 1 1 ZNF727 HGNC HGNC:22785 protein_coding YES CCDS55113.1 ENSP00000485448 A8MUV8 UPI0001A23134 NM_001159522.1 deleterious(0.02) possibly_damaging(0.845) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF98,hmmpanther:PTHR24384:SF98,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS AGC . . 64078399 AC079781.5 . GRCh38 chr7 97928323 97928323 + Splice_Region SNP T T G rs74208482 7316-2664 BS_WDTHGVYN T T n.1001-6A>C ENST00000641784 119 85 29 39 38 0 AC079781.5,splice_region_variant,,ENST00000641784,;AC079781.5,non_coding_transcript_exon_variant,,ENST00000641315,;AC079781.5,intron_variant,,ENST00000641390,;,regulatory_region_variant,,ENSR00000215490,;AC079781.4,upstream_gene_variant,,ENST00000641908,; G ENSG00000284707 ENST00000641784 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs74208482 1 -1 AC079781.5 Clone_based_ensembl_gene processed_transcript YES 3/17 LOW 1 SNV PASS ATT . . 97928323 PPP1R35 . GRCh38 chr7 100435903 100435903 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.396A>C p.Glu132Asp p.E132D ENST00000292330 2/4 103 87 16 36 35 0 PPP1R35,missense_variant,p.Glu132Asp,ENST00000292330,NM_145030.2;MEPCE,downstream_gene_variant,,ENST00000310512,NM_019606.5;MEPCE,downstream_gene_variant,,ENST00000414441,NM_001194991.1,NM_001194990.1,NM_001194992.1;AC092849.2,intron_variant,,ENST00000492523,;AC092849.1,upstream_gene_variant,,ENST00000475250,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000476185,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000487452,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000491407,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000470295,;MEPCE,downstream_gene_variant,,ENST00000479201,;MEPCE,downstream_gene_variant,,ENST00000497759,;,regulatory_region_variant,,ENSR00000215791,; G ENSG00000160813 ENST00000292330 Transcript missense_variant 587/1031 396/762 132/253 E/D gaA/gaC 1 -1 PPP1R35 HGNC HGNC:28320 protein_coding YES CCDS5694.1 ENSP00000292330 Q8TAP8 UPI000006D9DB NM_145030.2 tolerated(0.1) probably_damaging(0.986) 2/4 hmmpanther:PTHR28625,Pfam_domain:PF15503 MODERATE 1 SNV 1 PASS GTT . . 100435903 MUC17 . GRCh38 chr7 101033503 101033503 + Missense_Mutation SNP A A T 7316-2664 BS_WDTHGVYN A A c.2087A>T p.Asn696Ile p.N696I ENST00000306151 3/13 69 53 6 46 44 0 MUC17,missense_variant,p.Asn696Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn696Ile,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 2151/14247 2087/13482 696/4493 N/I aAc/aTc COSM5763967 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.07) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS AAC . . 101033503 MUC17 . GRCh38 chr7 101040406 101040406 + Missense_Mutation SNP T T C rs193142121 7316-2664 BS_WDTHGVYN T T c.8990T>C p.Met2997Thr p.M2997T ENST00000306151 3/13 75 63 7 41 38 1 MUC17,missense_variant,p.Met2997Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Met2997Thr,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 9054/14247 8990/13482 2997/4493 M/T aTg/aCg rs193142121 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,hmmpanther:PTHR37999,mobidb-lite 0.0002 0.0008 MODERATE 1 SNV 1 PASS ATG . . 4.133e-06 6.61e-05 101040406 RP1L1 . GRCh38 chr8 10608035 10608035 + Missense_Mutation SNP G G T 7316-2664 BS_WDTHGVYN G G c.6063C>A p.Asp2021Glu p.D2021E ENST00000382483 4/4 66 50 9 33 31 0 RP1L1,missense_variant,p.Asp2021Glu,ENST00000382483,NM_178857.5; T ENSG00000183638 ENST00000382483 Transcript missense_variant 6287/7973 6063/7203 2021/2400 D/E gaC/gaA COSM6768929 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(1) benign(0) 4/4 mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 1 MODERATE 1 SNV 1 1 1 PASS CGT . . 10608035 RIMS2 . GRCh38 chr8 104251164 104251164 + Splice_Site SNP G G A novel 7316-2664 BS_WDTHGVYN G G c.3831+1G>A p.X1277_splice ENST00000504942 86 77 8 50 50 0 RIMS2,splice_donor_variant,,ENST00000262231,NM_001282881.1;RIMS2,splice_donor_variant,,ENST00000339750,NM_001282882.1;RIMS2,splice_donor_variant,,ENST00000436393,;RIMS2,splice_donor_variant,,ENST00000504942,NM_001100117.2;RIMS2,splice_donor_variant,,ENST00000507740,NM_014677.4;RIMS2,splice_donor_variant,,ENST00000523362,;RIMS2,downstream_gene_variant,,ENST00000408894,; A ENSG00000176406 ENST00000504942 Transcript splice_donor_variant 1 1 RIMS2 HGNC HGNC:17283 protein_coding YES CCDS55269.1 ENSP00000427018 Q9UQ26 UPI0001597063 NM_001100117.2 23/23 HIGH 1 SNV 2 PASS GGT . . 104251164 TIGD5 . GRCh38 chr8 143598586 143598586 + Missense_Mutation SNP A A G novel 7316-2664 BS_WDTHGVYN A A c.683A>G p.Glu228Gly p.E228G ENST00000504548 1/1 75 56 8 30 28 0 TIGD5,missense_variant,p.Glu228Gly,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; G ENSG00000179886 ENST00000504548 Transcript missense_variant 752/5390 683/1929 228/642 E/G gAg/gGg 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 tolerated(0.1) benign(0.026) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45428 MODERATE SNV PASS GAG . . 143598586 ZNF169 . GRCh38 chr9 94300679 94300679 + Missense_Mutation SNP T T A rs1412530801 7316-2664 BS_WDTHGVYN T T c.1121T>A p.Phe374Tyr p.F374Y ENST00000395395 5/5 82 70 8 29 29 0 ZNF169,missense_variant,p.Phe374Tyr,ENST00000395395,NM_001301275.1,NM_003448.2,NM_194320.3;ZNF169,3_prime_UTR_variant,,ENST00000340911,;ZNF169,downstream_gene_variant,,ENST00000480716,;,regulatory_region_variant,,ENSR00000238106,; A ENSG00000175787 ENST00000395395 Transcript missense_variant 1211/1986 1121/1812 374/603 F/Y tTc/tAc rs1412530801 1 1 ZNF169 HGNC HGNC:12957 protein_coding YES CCDS6709.2 ENSP00000378792 Q14929 UPI00001C1EC1 NM_001301275.1,NM_003448.2,NM_194320.3 tolerated(1) benign(0.03) 5/5 Gene3D:2.40.155.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF25,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TTC . . 94300679 QSOX2 . GRCh38 chr9 136245764 136245764 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.40A>C p.Ile14Leu p.I14L ENST00000358701 1/12 87 75 11 22 20 0 QSOX2,missense_variant,p.Ile14Leu,ENST00000358701,NM_181701.3;CCDC187,downstream_gene_variant,,ENST00000638797,;CR392000.1,upstream_gene_variant,,ENST00000624770,;,regulatory_region_variant,,ENSR00000242992,; G ENSG00000165661 ENST00000358701 Transcript missense_variant 78/4530 40/2097 14/698 I/L Atc/Ctc 1 -1 QSOX2 HGNC HGNC:30249 protein_coding YES CCDS35178.1 ENSP00000351536 Q6ZRP7 UPI00004A7AC1 NM_181701.3 tolerated_low_confidence(0.41) benign(0) 1/12 MODERATE 1 SNV 2 PASS ATT . . 136245764 KIF20B . GRCh38 chr10 89723990 89723991 + Frame_Shift_Ins INS - - A rs765982617 7316-2664 BS_WDTHGVYN - - c.1758dup p.Leu587ThrfsTer4 p.L587Tfs*4 ENST00000371728 14/33 52 42 6 49 47 0 KIF20B,frameshift_variant,p.Leu587ThrfsTer4,ENST00000371728,NM_001284259.1;KIF20B,frameshift_variant,p.Leu587ThrfsTer4,ENST00000260753,NM_016195.3;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,; A ENSG00000138182 ENST00000371728 Transcript frameshift_variant 1814-1815/6419 1749-1750/5463 583-584/1820 -/X -/A rs765982617,TMP_ESP_10_91483748_91483748 1 1 KIF20B HGNC HGNC:7212 protein_coding YES CCDS60590.1 ENSP00000360793 Q96Q89 UPI000013D104 NM_001284259.1 14/33 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF534,Low_complexity_(Seg):seg 0.003595 0.005599 HIGH 1 insertion 1 9 PASS TGA . . 0.002594 0.002968 0.006713 0.002886 0.002697 0.001023 0.00175 0.004658 0.003095 89723990 DRD4 . GRCh38 chr11 637312 637312 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.8A>C p.Asn3Thr p.N3T ENST00000176183 1/4 91 78 11 27 27 0 DRD4,missense_variant,p.Asn3Thr,ENST00000176183,NM_000797.3;DRD4,upstream_gene_variant,,ENST00000528733,;,regulatory_region_variant,,ENSR00000035666,; C ENSG00000069696 ENST00000176183 Transcript missense_variant 20/1375 8/1260 3/419 N/T aAc/aCc 1 1 DRD4 HGNC HGNC:3025 protein_coding YES CCDS7710.1 ENSP00000176183 P21917 UPI000011F17B NM_000797.3 deleterious_low_confidence(0.04) benign(0.092) 1/4 MODERATE 1 SNV 1 1 PASS AAC . . 637312 RHOG . GRCh38 chr11 3840895 3840895 + Splice_Region SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.-70A>C ENST00000351018 1/2 75 61 7 27 27 0 RHOG,splice_region_variant,,ENST00000351018,NM_001665.3;RHOG,upstream_gene_variant,,ENST00000396978,;RHOG,upstream_gene_variant,,ENST00000396979,;,regulatory_region_variant,,ENSR00000036121,; G ENSG00000177105 ENST00000351018 Transcript splice_region_variant,5_prime_UTR_variant 89/1319 1 -1 RHOG HGNC HGNC:672 protein_coding YES CCDS7748.1 ENSP00000339467 P84095 Q6ICQ8 UPI00000266CB NM_001665.3 1/2 LOW 1 SNV 1 PASS CTG . . 3840895 AHNAK . GRCh38 chr11 62526332 62526332 + Missense_Mutation SNP G G T rs1184905338 7316-2664 BS_WDTHGVYN G G c.8085C>A p.Phe2695Leu p.F2695L ENST00000378024 5/5 82 74 8 37 37 0 AHNAK,missense_variant,p.Phe2695Leu,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 8360/18787 8085/17673 2695/5890 F/L ttC/ttA rs1184905338 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.11) probably_damaging(0.981) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,mobidb-lite MODERATE 1 SNV 2 PASS TGA . . 62526332 C11orf95 . GRCh38 chr11 63764119 63764119 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.1504A>C p.Ile502Leu p.I502L ENST00000433688 4/5 89 75 12 29 28 0 C11orf95,missense_variant,p.Ile502Leu,ENST00000433688,NM_001144936.1;C11orf95,intron_variant,,ENST00000338498,;RTN3,downstream_gene_variant,,ENST00000339997,NM_201428.2;RTN3,downstream_gene_variant,,ENST00000341307,NM_201430.2;RTN3,downstream_gene_variant,,ENST00000356000,NM_201429.2;RTN3,downstream_gene_variant,,ENST00000377819,NM_001265589.1;C11orf95,downstream_gene_variant,,ENST00000445014,;RTN3,downstream_gene_variant,,ENST00000537981,NM_006054.3;C11orf95,downstream_gene_variant,,ENST00000546282,; G ENSG00000188070 ENST00000433688 Transcript missense_variant 1657/5716 1504/2037 502/678 I/L Atc/Ctc 1 -1 C11orf95 HGNC HGNC:28449 protein_coding YES CCDS44636.1 ENSP00000482180 C9JLR9 UPI000192951F NM_001144936.1 tolerated(0.73) benign(0) 4/5 hmmpanther:PTHR34589,hmmpanther:PTHR34589:SF2,mobidb-lite MODERATE SNV 5 1 PASS ATG . . 63764119 FKBP11 . GRCh38 chr12 48925376 48925378 + In_Frame_Del DEL AGC AGC - rs755869398 7316-2664 BS_WDTHGVYN AGC AGC c.51_53del p.Leu18del p.L18del ENST00000550765 1/6 93 73 7 29 27 0 FKBP11,inframe_deletion,p.Leu18del,ENST00000552878,;FKBP11,inframe_deletion,p.Leu18del,ENST00000550765,NM_016594.2;FKBP11,inframe_deletion,p.Leu18del,ENST00000453172,NM_001143782.1;CCDC65,intron_variant,,ENST00000266984,;AC073610.3,intron_variant,,ENST00000398092,;AC073610.2,intron_variant,,ENST00000537495,;CCDC65,downstream_gene_variant,,ENST00000320516,NM_033124.4,NM_001286957.1;FKBP11,upstream_gene_variant,,ENST00000444214,NM_001143781.1;CCDC65,downstream_gene_variant,,ENST00000552942,;FKBP11,inframe_deletion,p.Leu18del,ENST00000256680,;FKBP11,inframe_deletion,p.Leu18del,ENST00000547789,;FKBP11,non_coding_transcript_exon_variant,,ENST00000553027,;FKBP11,non_coding_transcript_exon_variant,,ENST00000551694,;FKBP11,non_coding_transcript_exon_variant,,ENST00000551807,;FKBP11,upstream_gene_variant,,ENST00000546671,;FKBP11,upstream_gene_variant,,ENST00000546847,;CCDC65,downstream_gene_variant,,ENST00000547861,;FKBP11,upstream_gene_variant,,ENST00000549084,;FKBP11,upstream_gene_variant,,ENST00000551094,;CCDC65,downstream_gene_variant,,ENST00000552188,;,regulatory_region_variant,,ENSR00000051547,; - ENSG00000134285 ENST00000550765 Transcript inframe_deletion 450-452/1030 51-53/606 17-18/201 LL/L ctGCTc/ctc rs755869398,TMP_ESP_12_49319159_49319161,COSM939932 1 -1 FKBP11 HGNC HGNC:18624 protein_coding YES CCDS8773.1 ENSP00000449751 Q9NYL4 UPI00000495C5 NM_016594.2 1/6 hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF395,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0.03524 0.0366 0,0,1 MODERATE 1 deletion 1 0,0,1 PASS TGAGCA . . 0.001138 0.0007463 0.0005647 0.0003451 0.0008286 0.003326 0.001352 0.0004335 0.0003789 48925375 SHISA2 . GRCh38 chr13 26050707 26050707 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.269A>C p.Asn90Thr p.N90T ENST00000319420 1/2 111 99 11 34 34 0 SHISA2,missense_variant,p.Asn90Thr,ENST00000319420,NM_001007538.1;LINC00415,downstream_gene_variant,,ENST00000439079,; G ENSG00000180730 ENST00000319420 Transcript missense_variant 325/2860 269/888 90/295 N/T aAt/aCt 1 -1 SHISA2 HGNC HGNC:20366 protein_coding YES CCDS31951.1 ENSP00000313079 Q6UWI4 UPI000004BA7B NM_001007538.1 tolerated(0.11) benign(0.031) 1/2 mobidb-lite,hmmpanther:PTHR31395:SF0,hmmpanther:PTHR31395,Pfam_domain:PF13908 MODERATE 1 SNV 1 PASS ATT . . 26050707 F7 . GRCh38 chr13 113118625 113118625 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.1018T>G p.Leu340Val p.L340V ENST00000375581 9/9 92 80 10 33 33 0 F7,missense_variant,p.Leu340Val,ENST00000375581,NM_000131.4;F7,missense_variant,p.Leu256Val,ENST00000541084,NM_001267554.1;F7,missense_variant,p.Leu318Val,ENST00000346342,NM_019616.3;F10,upstream_gene_variant,,ENST00000375551,NM_001312675.1;F10,upstream_gene_variant,,ENST00000375559,NM_000504.3,NM_001312674.1;F10,upstream_gene_variant,,ENST00000409306,;F7,downstream_gene_variant,,ENST00000473085,;F10,upstream_gene_variant,,ENST00000483537,;F10,upstream_gene_variant,,ENST00000410083,;F7,downstream_gene_variant,,ENST00000444337,;F10,upstream_gene_variant,,ENST00000477269,;F7,downstream_gene_variant,,ENST00000479674,; G ENSG00000057593 ENST00000375581 Transcript missense_variant 1053/3109 1018/1401 340/466 L/V Ttg/Gtg 1 1 F7 HGNC HGNC:3544 protein_coding YES CCDS9528.1 ENSP00000364731 P08709 UPI000012A414 NM_000131.4 tolerated(0.81) benign(0.007) 9/9 Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,PROSITE_profiles:PS50240,hmmpanther:PTHR44064,hmmpanther:PTHR44064:SF1,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 MODERATE 1 SNV 1 1 PASS ATT . . 113118625 STRN3 . GRCh38 chr14 31026082 31026082 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.104A>C p.Asn35Thr p.N35T ENST00000357479 1/18 72 56 15 34 34 0 STRN3,missense_variant,p.Asn35Thr,ENST00000355683,NM_014574.3;STRN3,missense_variant,p.Asn35Thr,ENST00000357479,NM_001083893.1;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.2;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,missense_variant,p.Asn35Thr,ENST00000555358,;,regulatory_region_variant,,ENSR00000067178,; G ENSG00000196792 ENST00000357479 Transcript missense_variant 301/2799 104/2394 35/797 N/T aAc/aCc 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 tolerated_low_confidence(0.88) benign(0) 1/18 hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS GTT . . 31026082 LINC01588 . GRCh38 chr14 49960535 49960535 + Splice_Region SNP G G A rs2273418 7316-2664 BS_WDTHGVYN G G n.124+4C>T ENST00000556130 38 11 26 23 21 2 LINC01588,splice_region_variant,,ENST00000556130,;LINC01588,splice_region_variant,,ENST00000556434,;LINC01588,splice_region_variant,,ENST00000556913,;LINC01588,downstream_gene_variant,,ENST00000635379,;,regulatory_region_variant,,ENSR00000068068,; A ENSG00000214900 ENST00000556130 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs2273418 1 -1 LINC01588 HGNC HGNC:27503 lincRNA 1/1 0.4103 0.6422 0.3184 0.1548 0.4592 0.3753 LOW SNV 2 PASS CGT . . 49960535 GOLGA6L7 . GRCh38 chr15 28843185 28843185 + Missense_Mutation SNP G G C rs1302672174 7316-2664 BS_WDTHGVYN G G c.919C>G p.Arg307Gly p.R307G ENST00000567390 9/9 47 30 13 20 19 0 GOLGA6L7,missense_variant,p.Arg307Gly,ENST00000567390,;PDCD6IPP2,intron_variant,,ENST00000564604,;PDCD6IPP2,intron_variant,,ENST00000566178,;PDCD6IPP2,downstream_gene_variant,,ENST00000563144,;GOLGA6L7,downstream_gene_variant,,ENST00000569815,; C ENSG00000261649 ENST00000567390 Transcript missense_variant 1045/2397 919/1869 307/622 R/G Cgg/Ggg rs1302672174 1 -1 GOLGA6L7 HGNC HGNC:37442 protein_coding YES ENSP00000490318 A0A1B0GV03 UPI0007E52AB8 deleterious(0.02) unknown(0) 9/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CGC . . 28843185 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 90 68 11 37 36 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 DAPK2 . GRCh38 chr15 64046296 64046296 + Splice_Site SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.-7+2T>G ENST00000457488 89 64 11 24 24 0 DAPK2,splice_donor_variant,,ENST00000457488,NM_014326.3;DAPK2,splice_donor_variant,,ENST00000612884,;DAPK2,intron_variant,,ENST00000559306,;DAPK2,splice_donor_variant,,ENST00000558482,;DAPK2,splice_donor_variant,,ENST00000561162,;,regulatory_region_variant,,ENSR00000077892,; C ENSG00000035664 ENST00000457488 Transcript splice_donor_variant 1 -1 DAPK2 HGNC HGNC:2675 protein_coding CCDS10188.1 ENSP00000408277 Q9UIK4 A0A024R603 UPI000006DFD1 NM_014326.3 1/11 HIGH 1 SNV 1 PASS CAC . . 64046296 PDCD7 . GRCh38 chr15 65133017 65133017 + Missense_Mutation SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.765A>C p.Glu255Asp p.E255D ENST00000204549 1/5 109 95 13 26 25 0 PDCD7,missense_variant,p.Glu255Asp,ENST00000204549,NM_005707.1;PDCD7,upstream_gene_variant,,ENST00000560313,;,regulatory_region_variant,,ENSR00000078048,; G ENSG00000090470 ENST00000204549 Transcript missense_variant 820/2851 765/1458 255/485 E/D gaA/gaC 1 -1 PDCD7 HGNC HGNC:8767 protein_coding YES CCDS10201.1 ENSP00000204549 Q8N8D1 Q6IEG3 UPI00000731D7 NM_005707.1 tolerated(0.13) benign(0.003) 1/5 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF16021,hmmpanther:PTHR44604,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 65133017 PDCD7 . GRCh38 chr15 65133089 65133089 + Nonsense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.693T>G p.Tyr231Ter p.Y231* ENST00000204549 1/5 108 94 9 24 24 0 PDCD7,stop_gained,p.Tyr231Ter,ENST00000204549,NM_005707.1;PDCD7,upstream_gene_variant,,ENST00000560313,;,regulatory_region_variant,,ENSR00000078048,; C ENSG00000090470 ENST00000204549 Transcript stop_gained 748/2851 693/1458 231/485 Y/* taT/taG 1 -1 PDCD7 HGNC HGNC:8767 protein_coding YES CCDS10201.1 ENSP00000204549 Q8N8D1 Q6IEG3 UPI00000731D7 NM_005707.1 1/5 Pfam_domain:PF16021,hmmpanther:PTHR44604 HIGH 1 SNV 1 PASS CAT . . 65133089 ALPK3 . GRCh38 chr15 84817330 84817330 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.484A>C p.Asn162His p.N162H ENST00000258888 1/14 103 81 13 32 32 0 ALPK3,missense_variant,p.Asn162His,ENST00000258888,NM_020778.4;,regulatory_region_variant,,ENSR00000080458,; C ENSG00000136383 ENST00000258888 Transcript missense_variant 651/10917 484/5724 162/1907 N/H Aat/Cat 1 1 ALPK3 HGNC HGNC:17574 protein_coding YES CCDS10333.1 ENSP00000258888 Q96L96 UPI000013D013 NM_020778.4 deleterious_low_confidence(0) probably_damaging(0.996) 1/14 mobidb-lite MODERATE 1 SNV 1 PASS AAA . . 84817330 E2F4 . GRCh38 chr16 67192247 67192247 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.20A>C p.Gln7Pro p.Q7P ENST00000379378 1/10 85 58 12 26 25 0 E2F4,missense_variant,p.Gln7Pro,ENST00000379378,NM_001950.3;EXOC3L1,upstream_gene_variant,,ENST00000314586,NM_178516.3;EXOC3L1,upstream_gene_variant,,ENST00000545725,;EXOC3L1,upstream_gene_variant,,ENST00000563889,;EXOC3L1,upstream_gene_variant,,ENST00000564418,;E2F4,upstream_gene_variant,,ENST00000565226,;EXOC3L1,upstream_gene_variant,,ENST00000562887,;E2F4,upstream_gene_variant,,ENST00000564718,;E2F4,missense_variant,p.Gln7Pro,ENST00000568839,;E2F4,missense_variant,p.Gln7Pro,ENST00000569573,;E2F4,missense_variant,p.Gln7Pro,ENST00000565849,;E2F4,non_coding_transcript_exon_variant,,ENST00000567007,;E2F4,non_coding_transcript_exon_variant,,ENST00000561904,;E2F4,non_coding_transcript_exon_variant,,ENST00000563238,;E2F4,non_coding_transcript_exon_variant,,ENST00000568485,;EXOC3L1,upstream_gene_variant,,ENST00000564324,;E2F4,upstream_gene_variant,,ENST00000566368,;E2F4,upstream_gene_variant,,ENST00000567228,;E2F4,upstream_gene_variant,,ENST00000568693,;,regulatory_region_variant,,ENSR00000087081,; C ENSG00000205250 ENST00000379378 Transcript missense_variant 79/2096 20/1242 7/413 Q/P cAg/cCg 1 1 E2F4 HGNC HGNC:3118 protein_coding YES CCDS32464.1 ENSP00000368686 Q16254 UPI000002EFCB NM_001950.3 deleterious_low_confidence(0.05) possibly_damaging(0.497) 1/10 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF42 MODERATE 1 SNV 1 PASS CAG . . 67192247 KRTAP4-2 . GRCh38 chr17 41177818 41177818 + Missense_Mutation SNP T T A 7316-2664 BS_WDTHGVYN T T c.347A>T p.Tyr116Phe p.Y116F ENST00000377726 1/1 85 71 7 46 45 0 KRTAP4-2,missense_variant,p.Tyr116Phe,ENST00000377726,NM_033062.3; A ENSG00000244537 ENST00000377726 Transcript missense_variant 391/763 347/411 116/136 Y/F tAc/tTc COSM5458060,COSM5458059 1 -1 KRTAP4-2 HGNC HGNC:18900 protein_coding YES CCDS11384.1 ENSP00000366955 Q9BYR5 UPI0000246F2E NM_033062.3 tolerated(0.05) benign(0) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF37 1,1 MODERATE 1 SNV 1,1 PASS GTA . . 41177818 AATK . GRCh38 chr17 81120475 81120475 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.3461T>G p.Leu1154Trp p.L1154W ENST00000326724 11/14 77 62 14 38 37 1 AATK,missense_variant,p.Leu1154Trp,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Leu1051Trp,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;MIR657,downstream_gene_variant,,ENST00000385003,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,intron_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,; C ENSG00000181409 ENST00000326724 Transcript missense_variant 3486/5257 3461/4125 1154/1374 L/W tTg/tGg 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 tolerated(0.19) benign(0.318) 11/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS CAA . . 81120475 TXNDC2 . GRCh38 chr18 9887545 9887545 + Missense_Mutation SNP A A G rs201942026 7316-2664 BS_WDTHGVYN A A c.1066A>G p.Lys356Glu p.K356E ENST00000306084 2/2 40 22 6 31 28 1 TXNDC2,missense_variant,p.Lys289Glu,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Lys341Glu,ENST00000611534,;TXNDC2,missense_variant,p.Lys356Glu,ENST00000306084,NM_001098529.1;TXNDC2,3_prime_UTR_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; G ENSG00000168454 ENST00000306084 Transcript missense_variant 1265/1873 1066/1662 356/553 K/E Aag/Gag rs201942026,COSM6285647,COSM6285646 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(1) benign(0.003) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 0.0012 0.003 0.002 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GAA . . 3.834e-05 8.597e-05 4.065e-05 0.0003959 3.902e-05 9887545 ANKRD30B . GRCh38 chr18 14779987 14779987 + Missense_Mutation SNP G G A rs76927023 7316-2664 BS_WDTHGVYN G G c.1448G>A p.Arg483Gln p.R483Q ENST00000358984 11/36 66 58 8 46 46 0 ANKRD30B,missense_variant,p.Arg483Gln,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Arg483Gln,ENST00000580206,; A ENSG00000180777 ENST00000358984 Transcript missense_variant 1628/4359 1448/4179 483/1392 R/Q cGa/cAa rs76927023,COSM1303595,COSM1303594 1 1 ANKRD30B HGNC HGNC:24165 protein_coding YES CCDS54182.1 ENSP00000351875 Q9BXX2 UPI0000425FF7 NM_001145029.1 tolerated(1) benign(0.003) 11/36 hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF46 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGA . . 0.0869 0.09559 0.07312 0.02879 0.07295 0.06293 0.1118 0.06701 0.06025 14779987 ANKRD30B . GRCh38 chr18 14780020 14780020 + Missense_Mutation SNP G G T rs72873710 7316-2664 BS_WDTHGVYN G G c.1481G>T p.Gly494Val p.G494V ENST00000358984 11/36 64 54 9 47 47 0 ANKRD30B,missense_variant,p.Gly494Val,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Gly494Val,ENST00000580206,; T ENSG00000180777 ENST00000358984 Transcript missense_variant,splice_region_variant 1661/4359 1481/4179 494/1392 G/V gGg/gTg rs72873710,COSM1387909,COSM1387908 1 1 ANKRD30B HGNC HGNC:24165 protein_coding YES CCDS54182.1 ENSP00000351875 Q9BXX2 UPI0000425FF7 NM_001145029.1 tolerated_low_confidence(0.06) benign(0.192) 11/36 hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF46 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGG . . 0.142 0.1541 0.1206 0.05337 0.1271 0.1166 0.1759 0.1082 0.1002 14780020 ANKRD30B . GRCh38 chr18 14780025 14780025 + Splice_Region SNP T T C rs79199021 7316-2664 BS_WDTHGVYN T T c.1482+4T>C ENST00000358984 66 57 8 49 49 0 ANKRD30B,splice_region_variant,,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,splice_region_variant,,ENST00000580206,; C ENSG00000180777 ENST00000358984 Transcript splice_region_variant,intron_variant rs79199021,COSM5424334,COSM5424333 1 1 ANKRD30B HGNC HGNC:24165 protein_coding YES CCDS54182.1 ENSP00000351875 Q9BXX2 UPI0000425FF7 NM_001145029.1 11/35 0,1,1 LOW 1 SNV 1 0,1,1 PASS ATT . . 0.1274 0.136 0.1046 0.04675 0.113 0.1058 0.16 0.09454 0.08907 14780025 CTDP1 . GRCh38 chr18 79679949 79679949 + Translation_Start_Site SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.2T>G p.Met1? p.M1? ENST00000613122 1/13 88 74 11 26 26 0 CTDP1,start_lost,p.Met1?,ENST00000613122,NM_004715.4;CTDP1,start_lost,p.Met1?,ENST00000075430,NM_048368.3;CTDP1,upstream_gene_variant,,ENST00000299543,NM_001202504.1;CTDP1,upstream_gene_variant,,ENST00000590635,;CTDP1,upstream_gene_variant,,ENST00000591598,NM_001318511.1;AC068473.1,upstream_gene_variant,,ENST00000317008,;AC068473.5,upstream_gene_variant,,ENST00000616428,;CTDP1,upstream_gene_variant,,ENST00000587623,;,regulatory_region_variant,,ENSR00000105362,; G ENSG00000060069 ENST00000613122 Transcript start_lost 149/5866 2/2886 1/961 M/R aTg/aGg 1 1 CTDP1 HGNC HGNC:2498 protein_coding YES CCDS12017.1 ENSP00000484525 Q9Y5B0 UPI000013C57B NM_004715.4 deleterious_low_confidence(0) benign(0.278) 1/13 HIGH 1 SNV 1 1 PASS ATG . . 79679949 ZNF708 . GRCh38 chr19 21294149 21294149 + Missense_Mutation SNP C C T rs878949655 7316-2664 BS_WDTHGVYN C C c.817G>A p.Val273Ile p.V273I ENST00000356929 4/4 55 40 6 51 49 1 ZNF708,missense_variant,p.Val273Ile,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; T ENSG00000182141 ENST00000356929 Transcript missense_variant 1015/4004 817/1692 273/563 V/I Gtt/Att rs878949655,COSM6445146 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 tolerated(1) benign(0.001) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS ACT . . 0.0001465 0.0002467 0.0005233 4.731e-05 9.858e-05 0.0002538 21294149 ZNF729 . GRCh38 chr19 22315132 22315132 + Missense_Mutation SNP G G T novel 7316-2664 BS_WDTHGVYN G G c.1715G>T p.Cys572Phe p.C572F ENST00000601693 4/4 67 57 6 46 46 0 ZNF729,missense_variant,p.Cys572Phe,ENST00000601693,NM_001242680.1; T ENSG00000196350 ENST00000601693 Transcript missense_variant 1833/3877 1715/3759 572/1252 C/F tGc/tTc 1 1 ZNF729 HGNC HGNC:32464 protein_coding YES CCDS59368.1 ENSP00000469582 A6NN14 UPI000042600C NM_001242680.1 tolerated(0.18) benign(0.012) 4/4 Gene3D:2.20.25.10,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,hmmpanther:PTHR24384:SF125,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TGC . . 22315132 ZNF724 . GRCh38 chr19 23222501 23222501 + Missense_Mutation SNP C C A 7316-2664 BS_WDTHGVYN C C c.1744G>T p.Val582Leu p.V582L ENST00000418100 4/4 61 47 8 57 54 0 ZNF724,missense_variant,p.Val582Leu,ENST00000418100,NM_001355404.1,NM_001355406.1,NM_001355405.1;ZNF724,downstream_gene_variant,,ENST00000597537,;AC092329.3,downstream_gene_variant,,ENST00000611392,; A ENSG00000196081 ENST00000418100 Transcript missense_variant 1862/2764 1744/1860 582/619 V/L Gta/Tta COSM5571657,COSM5571656 1 -1 ZNF724 HGNC HGNC:32460 protein_coding YES ENSP00000413411 A8MTY0 UPI0000EE61E4 NM_001355404.1,NM_001355406.1,NM_001355405.1 tolerated(0.45) benign(0.052) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 2 1,1 PASS ACC . . 23222501 SCN1B . GRCh38 chr19 35030822 35030822 + Translation_Start_Site SNP T T G novel 7316-2664 BS_WDTHGVYN T T c.2T>G p.Met1? p.M1? ENST00000415950 1/3 75 58 11 25 25 0 SCN1B,start_lost,p.Met1?,ENST00000415950,NM_199037.4;SCN1B,start_lost,p.Met1?,ENST00000262631,;SCN1B,start_lost,p.Met1?,ENST00000638536,NM_001037.4;SCN1B,start_lost,p.Met1?,ENST00000595652,;GRAMD1A,downstream_gene_variant,,ENST00000317991,NM_001320034.1,NM_020895.4;GRAMD1A,downstream_gene_variant,,ENST00000411896,NM_001136199.2,NM_001320035.1;SCN1B,upstream_gene_variant,,ENST00000596348,NM_001321605.1;GRAMD1A,downstream_gene_variant,,ENST00000599564,NM_001320036.1;SCN1B,upstream_gene_variant,,ENST00000640135,;GRAMD1A,downstream_gene_variant,,ENST00000598118,;GRAMD1A,downstream_gene_variant,,ENST00000600231,;,regulatory_region_variant,,ENSR00000108936,; G ENSG00000105711 ENST00000415950 Transcript start_lost 110/4537 2/807 1/268 M/R aTg/aGg 1 1 SCN1B HGNC HGNC:10586 protein_coding YES CCDS46047.1 ENSP00000396915 Q07699 UPI00000473F0 NM_199037.4 deleterious_low_confidence(0) benign(0.151) 1/3 PROSITE_profiles:PS51257,hmmpanther:PTHR10546,hmmpanther:PTHR10546:SF2,Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 1 PASS ATG . . 35030822 MAP3K10 . GRCh38 chr19 40192032 40192032 + Translation_Start_Site SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.1A>C p.Met1? p.M1? ENST00000253055 1/10 67 47 18 27 26 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; C ENSG00000130758 ENST00000253055 Transcript start_lost 289/3436 1/2865 1/954 M/L Atg/Ctg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.456) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS CAT . . 40192032 ZNF816 . GRCh38 chr19 52950222 52950222 + Missense_Mutation SNP A A T rs527656215 7316-2664 BS_WDTHGVYN A A c.1553T>A p.Phe518Tyr p.F518Y ENST00000357666 5/5 74 65 8 41 39 0 ZNF816,missense_variant,p.Phe518Tyr,ENST00000357666,NM_001031665.2;ZNF816,missense_variant,p.Phe518Tyr,ENST00000444460,NM_001202456.1,NM_001202457.1;ZNF816-ZNF321P,intron_variant,,ENST00000391777,NM_001202473.1;AC010487.3,intron_variant,,ENST00000634278,;ZNF816,downstream_gene_variant,,ENST00000270457,;ZNF816,downstream_gene_variant,,ENST00000332302,;ZNF816,downstream_gene_variant,,ENST00000391786,;ZNF816,downstream_gene_variant,,ENST00000438970,;ZNF816,downstream_gene_variant,,ENST00000457013,;ZNF816,downstream_gene_variant,,ENST00000535506,; T ENSG00000180257 ENST00000357666 Transcript missense_variant 1854/2697 1553/1956 518/651 F/Y tTc/tAc rs527656215 1 -1 ZNF816 HGNC HGNC:26995 protein_coding YES CCDS33096.1 ENSP00000350295 Q0VGE8 A0A024R4J0 UPI0000251D78 NM_001031665.2 deleterious(0.04) benign(0.427) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF236,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0004 0.002 MODERATE 1 SNV 1 PASS GAA . . 1.625e-05 0.000232 52950222 ZNF816 . GRCh38 chr19 52950227 52950227 + Missense_Mutation SNP T T A rs552579690 7316-2664 BS_WDTHGVYN T T c.1548A>T p.Lys516Asn p.K516N ENST00000357666 5/5 75 63 11 38 36 0 ZNF816,missense_variant,p.Lys516Asn,ENST00000357666,NM_001031665.2;ZNF816,missense_variant,p.Lys516Asn,ENST00000444460,NM_001202456.1,NM_001202457.1;ZNF816-ZNF321P,intron_variant,,ENST00000391777,NM_001202473.1;AC010487.3,intron_variant,,ENST00000634278,;ZNF816,downstream_gene_variant,,ENST00000270457,;ZNF816,downstream_gene_variant,,ENST00000332302,;ZNF816,downstream_gene_variant,,ENST00000391786,;ZNF816,downstream_gene_variant,,ENST00000438970,;ZNF816,downstream_gene_variant,,ENST00000457013,;ZNF816,downstream_gene_variant,,ENST00000535506,; A ENSG00000180257 ENST00000357666 Transcript missense_variant 1849/2697 1548/1956 516/651 K/N aaA/aaT rs552579690 1 -1 ZNF816 HGNC HGNC:26995 protein_coding YES CCDS33096.1 ENSP00000350295 Q0VGE8 A0A024R4J0 UPI0000251D78 NM_001031665.2 deleterious(0.02) possibly_damaging(0.89) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF236,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0004 0.002 MODERATE 1 SNV 1 PASS CTT . . 1.625e-05 0.0002319 52950227 LILRB2 . GRCh38 chr19 54278877 54278877 + Missense_Mutation SNP T T G rs147876169 7316-2664 BS_WDTHGVYN T T c.890A>C p.Tyr297Ser p.Y297S ENST00000391749 6/14 91 77 14 20 19 0 LILRB2,missense_variant,p.Tyr297Ser,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Tyr181Ser,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Tyr297Ser,ENST00000314446,NM_001080978.3;LILRB2,missense_variant,p.Tyr297Ser,ENST00000391749,NM_005874.4;LILRB2,missense_variant,p.Tyr297Ser,ENST00000391746,NM_001278406.2,NM_001278405.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; G ENSG00000131042 ENST00000391749 Transcript missense_variant 1162/2286 890/1797 297/598 Y/S tAc/tCc rs147876169 1 -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423 UPI00034F23A2 NM_005874.4 tolerated(0.08) benign(0.08) 6/14 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 0.0006 0.0014 0.002 0.000227 MODERATE 1 SNV 1 PASS GTA . . 0.0004107 0.000328 0.001698 0.0002902 0.0001076 0.0001824 0.0006827 54278877 ZNF814 . GRCh38 chr19 57874178 57874178 + Missense_Mutation SNP G G T rs201682072 7316-2664 BS_WDTHGVYN G G c.1212C>A p.Asp404Glu p.D404E ENST00000435989 3/3 72 58 10 40 40 0 ZNF814,missense_variant,p.Asp404Glu,ENST00000435989,NM_001144989.1;ZNF814,missense_variant,p.Asp266Glu,ENST00000614383,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,upstream_gene_variant,,ENST00000594159,;AC010326.2,downstream_gene_variant,,ENST00000602124,; T ENSG00000204514 ENST00000435989 Transcript missense_variant 1447/3146 1212/2568 404/855 D/E gaC/gaA rs201682072,COSM221868 1 -1 ZNF814 HGNC HGNC:33258 protein_coding YES CCDS46212.1 ENSP00000410545 B7Z6K7 UPI0001662BAD NM_001144989.1 tolerated(0.06) benign(0.005) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF619,hmmpanther:PTHR24377,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:2.30.30.380,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TGT . . 0.04549 0.04325 0.03086 0.01748 0.04029 0.0422 0.05966 0.0273 0.0333 57874178 KRTAP10-4 . GRCh38 chr21 44573789 44573789 + Missense_Mutation SNP A A G rs9977039 7316-2664 BS_WDTHGVYN A A c.31A>G p.Ser11Gly p.S11G ENST00000400374 1/1 111 85 17 53 49 1 KRTAP10-4,missense_variant,p.Ser11Gly,ENST00000400374,NM_198687.2;KRTAP10-4,missense_variant,p.Ser16Gly,ENST00000622352,;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000616689,;TSPEAR,non_coding_transcript_exon_variant,,ENST00000397916,;TSPEAR,intron_variant,,ENST00000642437,; G ENSG00000215454 ENST00000400374 Transcript missense_variant 61/1643 31/1206 11/401 S/G Agc/Ggc rs9977039,COSM6197964 1 1 KRTAP10-4 HGNC HGNC:20521 protein_coding YES CCDS42957.1 ENSP00000383225 P60372 UPI00003D4D6E NM_198687.2 tolerated(1) benign(0.171) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF142 0.0325 0.0961 0.0187 0.0149 0.004 0.0041 0.06555 0.003393 0,1 MODERATE SNV 0,1 PASS CAG . . 0.01119 0.08733 0.009367 0.00654 0.01168 0.01041 0.003599 0.009548 0.005415 44573789 FAM207A . GRCh38 chr21 44940185 44940185 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.128A>C p.Lys43Thr p.K43T ENST00000291634 1/6 109 89 16 32 32 0 FAM207A,missense_variant,p.Lys43Thr,ENST00000291634,NM_001316983.1,NM_058190.3,NM_001316986.1;FAM207A,missense_variant,p.Lys43Thr,ENST00000397826,NM_001316984.1,NM_001316987.1,NM_001316985.1,NM_001316988.1;FAM207A,missense_variant,p.Lys43Thr,ENST00000458015,;LINC01547,upstream_gene_variant,,ENST00000330551,;LINC01547,upstream_gene_variant,,ENST00000397841,;AL844908.1,downstream_gene_variant,,ENST00000609953,;,regulatory_region_variant,,ENSR00000143123,; C ENSG00000160256 ENST00000291634 Transcript missense_variant,splice_region_variant 176/927 128/693 43/230 K/T aAg/aCg 1 1 FAM207A HGNC HGNC:15811 protein_coding YES CCDS13718.1 ENSP00000291634 Q9NSI2 UPI00001286B9 NM_001316983.1,NM_058190.3,NM_001316986.1 deleterious(0.03) benign(0.372) 1/6 hmmpanther:PTHR31109 MODERATE 1 SNV 1 PASS AAG . . 44940185 GGT1 . GRCh38 chr22 24627926 24627926 + Missense_Mutation SNP G G A rs201313233 7316-2664 BS_WDTHGVYN G G c.1283G>A p.Ser428Asn p.S428N ENST00000400382 13/16 76 63 9 27 26 0 GGT1,missense_variant,p.Ser428Asn,ENST00000400382,NM_001288833.1;GGT1,missense_variant,p.Ser428Asn,ENST00000400380,NM_013421.2;GGT1,missense_variant,p.Ser428Asn,ENST00000248923,NM_013430.2;GGT1,missense_variant,p.Ser428Asn,ENST00000412658,;GGT1,missense_variant,p.Ser84Asn,ENST00000403838,;GGT1,missense_variant,p.Ser84Asn,ENST00000401885,;GGT1,missense_variant,p.Ser84Asn,ENST00000404223,;GGT1,missense_variant,p.Ser84Asn,ENST00000404532,;GGT1,missense_variant,p.Ser84Asn,ENST00000404920,;GGT1,non_coding_transcript_exon_variant,,ENST00000466310,;GGT1,non_coding_transcript_exon_variant,,ENST00000490087,;GGT1,3_prime_UTR_variant,,ENST00000425895,;BCRP3,upstream_gene_variant,,ENST00000447261,; A ENSG00000100031 ENST00000400382 Transcript missense_variant 2038/2628 1283/1710 428/569 S/N aGc/aAc rs201313233,COSM137241 1 1 GGT1 HGNC HGNC:4250 protein_coding YES CCDS42992.1 ENSP00000383232 P19440 A0A140VJJ9 UPI000007080C NM_001288833.1 tolerated(0.75) benign(0.001) 13/16 Pfam_domain:PF01019,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF28,Superfamily_domains:SSF56235,TIGRFAM_domain:TIGR00066 0,1 MODERATE 1 SNV 2 0,1 1 PASS AGC . . 0.008758 0.00177 0.004679 0.02196 0.000594 0.009344 0.01266 0.01071 0.00264 24627926 TRIOBP . GRCh38 chr22 37724806 37724806 + Missense_Mutation SNP G G T novel 7316-2664 BS_WDTHGVYN G G c.2250G>T p.Gln750His p.Q750H ENST00000406386 7/24 69 54 7 33 33 0 TRIOBP,missense_variant,p.Gln750His,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Gln750His,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; T ENSG00000100106 ENST00000406386 Transcript missense_variant 2521/10145 2250/7098 750/2365 Q/H caG/caT 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 tolerated_low_confidence(0.1) benign(0.358) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite MODERATE 1 SNV 5 1 PASS AGC . . 37724806 CACNA1I . GRCh38 chr22 39686094 39686094 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.6361A>C p.Ser2121Arg p.S2121R ENST00000402142 37/37 84 66 9 20 19 0 CACNA1I,missense_variant,p.Ser2121Arg,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Ser2086Arg,ENST00000404898,NM_001003406.1;CACNA1I,downstream_gene_variant,,ENST00000401624,;CACNA1I,downstream_gene_variant,,ENST00000407673,;,regulatory_region_variant,,ENSR00000146375,; C ENSG00000100346 ENST00000402142 Transcript missense_variant 6361/10004 6361/6672 2121/2223 S/R Agc/Cgc 1 1 CACNA1I HGNC HGNC:1396 protein_coding YES CCDS46710.1 ENSP00000385019 Q9P0X4 UPI000012727D NM_021096.3 tolerated(0.16) benign(0.113) 37/37 mobidb-lite MODERATE 1 SNV 1 PASS CAG . . 39686094 UBE2A . GRCh38 chrX 119574956 119574956 + Missense_Mutation SNP A A C novel 7316-2664 BS_WDTHGVYN A A c.100A>C p.Met34Leu p.M34L ENST00000371558 2/6 59 51 7 13 13 0 UBE2A,start_lost,p.Met1?,ENST00000628549,NM_001282161.1;UBE2A,missense_variant,p.Met34Leu,ENST00000371558,NM_003336.3;UBE2A,missense_variant,p.Met34Leu,ENST00000631185,;UBE2A,missense_variant,p.Met34Leu,ENST00000625938,NM_181762.2;UBE2A,missense_variant,p.Met34Leu,ENST00000346330,;UBE2A,5_prime_UTR_variant,,ENST00000630695,;UBE2A,missense_variant,p.Met34Leu,ENST00000629303,;UBE2A,non_coding_transcript_exon_variant,,ENST00000625379,;UBE2A,non_coding_transcript_exon_variant,,ENST00000469205,;,regulatory_region_variant,,ENSR00000248347,; C ENSG00000077721 ENST00000371558 Transcript missense_variant 345/1874 100/459 34/152 M/L Atg/Ctg 1 1 UBE2A HGNC HGNC:12472 protein_coding YES CCDS14580.1 ENSP00000360613 P49459 UPI00000043A0 NM_003336.3 tolerated(0.27) benign(0.001) 2/6 Gene3D:3.10.110.10,Pfam_domain:PF00179,PROSITE_profiles:PS50127,hmmpanther:PTHR43898,hmmpanther:PTHR43898:SF4,SMART_domains:SM00212,Superfamily_domains:SSF54495,cd00195 MODERATE 1 SNV 1 1 PASS AAT . . 119574956 RBMX . GRCh38 chrX 136874412 136874413 + Frame_Shift_Ins INS - - GG rs369155856 7316-2664 BS_WDTHGVYN - - c.904_905dup p.Ser303HisfsTer137 p.S303Hfs*137 ENST00000320676 9/9 41 29 8 21 19 0 RBMX,frameshift_variant,p.Ser303HisfsTer137,ENST00000320676,NM_002139.3;RBMX,frameshift_variant,p.Ser175HisfsTer137,ENST00000565438,;RBMX,3_prime_UTR_variant,,ENST00000562646,;RBMX,intron_variant,,ENST00000419968,;RBMX,intron_variant,,ENST00000431446,NM_001164803.1;SNORD61,downstream_gene_variant,,ENST00000384252,;RBMX,upstream_gene_variant,,ENST00000496459,;RBMX,upstream_gene_variant,,ENST00000561733,;RBMX,downstream_gene_variant,,ENST00000567262,;RBMX,3_prime_UTR_variant,,ENST00000568578,;RBMX,3_prime_UTR_variant,,ENST00000464781,;RBMX,downstream_gene_variant,,ENST00000563370,;RBMX,downstream_gene_variant,,ENST00000565907,; GG ENSG00000147274 ENST00000320676 Transcript frameshift_variant 1060-1061/2012 905-906/1176 302/391 P/PX cca/ccCCa rs369155856 1 -1 RBMX HGNC HGNC:9910 protein_coding YES CCDS14661.1 ENSP00000359645 P38159 UPI0000134535 NM_002139.3 9/9 hmmpanther:PTHR44345,hmmpanther:PTHR44345:SF1,mobidb-lite HIGH 1 insertion 1 1 PASS ATG . . 0.00253 0.004141 0.00426 0.001795 0.0009377 0.001051 0.00283 0.001938 0.0009978 136874412 USP9Y . GRCh38 chrY 12856848 12856848 + Splice_Region DEL A A - rs771808116 7316-2664 BS_WDTHGVYN A A c.7434+14del ENST00000338981 37 26 7 20 14 0 USP9Y,splice_region_variant,,ENST00000338981,NM_004654.3;USP9Y,splice_region_variant,,ENST00000453031,;USP9Y,splice_region_variant,,ENST00000426564,;USP9Y,non_coding_transcript_exon_variant,,ENST00000471409,; - ENSG00000114374 ENST00000338981 Transcript splice_region_variant,intron_variant rs771808116,COSM1735963 1 1 USP9Y HGNC HGNC:12633 protein_coding YES CCDS14781.1 ENSP00000342812 O00507 UPI00001AE67D NM_004654.3 44/45 0,1 LOW 1 deletion 1 11 0,1 1 PASS GTAA . . 0.0004212 0.006536 12856847 PUM1 . GRCh38 chr1 30936842 30936842 + Splice_Region SNP T T G novel 7316-32 BS_C9A3X8GK T T c.3243-7A>C ENST00000426105 67 60 7 30 29 0 PUM1,splice_region_variant,,ENST00000257075,NM_014676.2;PUM1,splice_region_variant,,ENST00000373741,;PUM1,splice_region_variant,,ENST00000373742,;PUM1,splice_region_variant,,ENST00000373747,;PUM1,splice_region_variant,,ENST00000424085,;PUM1,splice_region_variant,,ENST00000426105,NM_001020658.1;PUM1,splice_region_variant,,ENST00000440538,;PUM1,splice_region_variant,,ENST00000498419,;PUM1,splice_region_variant,,ENST00000525843,;PUM1,splice_region_variant,,ENST00000525997,;PUM1,splice_region_variant,,ENST00000529846,;PUM1,splice_region_variant,,ENST00000530669,; G ENSG00000134644 ENST00000426105 Transcript splice_region_variant,intron_variant 1 -1 PUM1 HGNC HGNC:14957 protein_coding YES CCDS44099.1 ENSP00000391723 Q14671 UPI0000203D8E NM_001020658.1 20/21 LOW 1 SNV 1 PASS ATG . . 30936842 NBPF12 . GRCh38 chr1 146984970 146984970 + Missense_Mutation SNP G G C rs1156957297 7316-32 BS_C9A3X8GK G G c.2824G>C p.Ala942Pro p.A942P ENST00000617931 24/36 56 47 9 31 31 0 NBPF12,missense_variant,p.Ala942Pro,ENST00000617931,;NBPF12,missense_variant,p.Ala942Pro,ENST00000617844,NM_001278141.1;NBPF12,missense_variant,p.Ala942Pro,ENST00000611443,;NBPF12,missense_variant,p.Ala671Pro,ENST00000579935,;NBPF12,missense_variant,p.Ala671Pro,ENST00000617614,;NBPF12,3_prime_UTR_variant,,ENST00000617864,;NBPF12,intron_variant,,ENST00000439206,;NBPF12,intron_variant,,ENST00000613714,; C ENSG00000268043 ENST00000617931 Transcript missense_variant 3884/7061 2824/4374 942/1457 A/P Gct/Cct rs1156957297 1 1 NBPF12 HGNC HGNC:24297 protein_coding YES CCDS72881.1 ENSP00000478609 Q5TAG4 UPI00032968BC tolerated(0.07) probably_damaging(0.976) 24/36 Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF28,SMART_domains:SM01148 MODERATE 1 SNV 5 PASS GGC . . 146984970 TCHH . GRCh38 chr1 152110024 152110024 + Nonsense_Mutation SNP C C A 7316-32 BS_C9A3X8GK C C c.3193G>T p.Gly1065Ter p.G1065* ENST00000614923 3/3 47 35 6 41 36 0 TCHH,stop_gained,p.Gly1065Ter,ENST00000614923,NM_007113.3;TCHH,stop_gained,p.Gly1065Ter,ENST00000368804,; A ENSG00000159450 ENST00000614923 Transcript stop_gained 3288/6995 3193/5832 1065/1943 G/* Gga/Tga COSM2184241 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 1 HIGH 1 SNV 5 1 1 PASS CCC . . 152110024 TCHH . GRCh38 chr1 152110260 152110260 + Missense_Mutation SNP C C A novel 7316-32 BS_C9A3X8GK C C c.2957G>T p.Arg986Leu p.R986L ENST00000614923 3/3 48 38 6 35 32 0 TCHH,missense_variant,p.Arg986Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg986Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 3052/6995 2957/5832 986/1943 R/L cGg/cTg 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 deleterious_low_confidence(0) possibly_damaging(0.827) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS CCG . . 152110260 FLG2 . GRCh38 chr1 152351733 152351733 + Missense_Mutation SNP C C G rs528776790 7316-32 BS_C9A3X8GK C C c.6053G>C p.Arg2018Thr p.R2018T ENST00000388718 3/3 61 48 9 34 33 0 FLG2,missense_variant,p.Arg2018Thr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 6126/9124 6053/7176 2018/2391 R/T aGa/aCa rs528776790,COSM6664570 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.94) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0.0006 0.0015 0.001 0,1 MODERATE SNV 5 0,1 1 PASS TCT . . 152351733 IVL . GRCh38 chr1 152910533 152910533 + Missense_Mutation SNP T T A 7316-32 BS_C9A3X8GK T T c.736T>A p.Ser246Thr p.S246T ENST00000368764 2/2 87 59 11 35 32 0 IVL,missense_variant,p.Ser246Thr,ENST00000368764,NM_005547.2; A ENSG00000163207 ENST00000368764 Transcript missense_variant 800/2153 736/1758 246/585 S/T Tct/Act COSM5950713 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated(0.26) benign(0.001) 2/2 mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 2 1 PASS CTC . . 152910533 SLC30A1 . GRCh38 chr1 211578611 211578611 + Translation_Start_Site SNP A A C novel 7316-32 BS_C9A3X8GK A A c.2T>G p.Met1? p.M1? ENST00000367001 1/2 99 85 10 37 37 0 SLC30A1,start_lost,p.Met1?,ENST00000367001,NM_021194.2;AC105275.2,downstream_gene_variant,,ENST00000567907,;,regulatory_region_variant,,ENSR00000019571,; C ENSG00000170385 ENST00000367001 Transcript start_lost 132/5474 2/1524 1/507 M/R aTg/aGg 1 -1 SLC30A1 HGNC HGNC:11012 protein_coding YES CCDS1499.1 ENSP00000355968 Q9Y6M5 UPI000013EBA0 NM_021194.2 deleterious(0) benign(0.206) 1/2 hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562 HIGH 1 SNV 1 PASS CAT . . 211578611 HYAL3 . GRCh38 chr3 50295476 50295476 + Nonsense_Mutation SNP C C A 7316-32 BS_C9A3X8GK C C c.127G>T p.Glu43Ter p.E43* ENST00000336307 2/4 87 75 6 31 28 0 HYAL3,stop_gained,p.Glu43Ter,ENST00000336307,NM_003549.3;HYAL3,stop_gained,p.Glu43Ter,ENST00000621157,NM_001200029.1;HYAL3,stop_gained,p.Glu43Ter,ENST00000359051,;HYAL3,stop_gained,p.Glu43Ter,ENST00000450982,NM_001200030.1;HYAL3,stop_gained,p.Glu43Ter,ENST00000435141,;HYAL3,intron_variant,,ENST00000415204,NM_001200031.1;HYAL3,intron_variant,,ENST00000513170,NM_001200032.1;HYAL1,downstream_gene_variant,,ENST00000266031,;HYAL1,downstream_gene_variant,,ENST00000320295,NM_153281.1;NAA80,downstream_gene_variant,,ENST00000354862,NM_012191.3;HYAL1,downstream_gene_variant,,ENST00000395143,NM_153282.2;HYAL1,downstream_gene_variant,,ENST00000395144,NM_033159.3;NAA80,downstream_gene_variant,,ENST00000417393,NM_001200018.1;IFRD2,upstream_gene_variant,,ENST00000417626,NM_006764.4;IFRD2,upstream_gene_variant,,ENST00000436390,;NAA80,downstream_gene_variant,,ENST00000442620,;NAA80,downstream_gene_variant,,ENST00000443094,NM_001200016.1;NAA80,downstream_gene_variant,,ENST00000443842,;NAA80,downstream_gene_variant,,ENST00000450489,;NAA80,downstream_gene_variant,,ENST00000452674,;HYAL1,downstream_gene_variant,,ENST00000618175,;IFRD2,upstream_gene_variant,,ENST00000468737,;IFRD2,upstream_gene_variant,,ENST00000484043,;IFRD2,upstream_gene_variant,,ENST00000414734,;IFRD2,upstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000474556,;IFRD2,upstream_gene_variant,,ENST00000489569,; A ENSG00000186792 ENST00000336307 Transcript stop_gained 400/1942 127/1254 43/417 E/* Gag/Tag COSM6213567 1 -1 HYAL3 HGNC HGNC:5322 protein_coding YES CCDS2815.1 ENSP00000337425 O43820 A0A024R2Y7 UPI000006E0AC NM_003549.3 2/4 Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,PIRSF_domain:PIRSF500776,Prints_domain:PR00846,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF19,Superfamily_domains:SSF51445 1 HIGH 1 SNV 1 1 PASS TCA . . 50295476 MUC4 . GRCh38 chr3 195781207 195781207 + Missense_Mutation SNP G G A rs879759934 7316-32 BS_C9A3X8GK G G c.10373C>T p.Pro3458Leu p.P3458L ENST00000463781 2/25 64 53 6 55 49 0 MUC4,missense_variant,p.Pro3458Leu,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro3458Leu,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro3458Leu,ENST00000478156,;MUC4,missense_variant,p.Pro3458Leu,ENST00000466475,;MUC4,missense_variant,p.Pro3458Leu,ENST00000477756,;MUC4,missense_variant,p.Pro3458Leu,ENST00000477086,;MUC4,missense_variant,p.Pro3458Leu,ENST00000480843,;MUC4,missense_variant,p.Pro3458Leu,ENST00000462323,;MUC4,missense_variant,p.Pro3458Leu,ENST00000470451,;MUC4,missense_variant,p.Pro3458Leu,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 10833/17110 10373/16239 3458/5412 P/L cCt/cTt rs879759934,COSM226098 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.03) possibly_damaging(0.722) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS AGG . . 0.0005803 0.0001746 0.001032 0.0001001 0.0007368 0.0009326 0.001059 0.0001424 195781207 MUC4 . GRCh38 chr3 195784025 195784025 + Missense_Mutation SNP G G T 7316-32 BS_C9A3X8GK G G c.7555C>A p.Pro2519Thr p.P2519T ENST00000463781 2/25 82 58 8 44 41 0 MUC4,missense_variant,p.Pro2519Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2519Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2519Thr,ENST00000478156,;MUC4,missense_variant,p.Pro2519Thr,ENST00000466475,;MUC4,missense_variant,p.Pro2519Thr,ENST00000477756,;MUC4,missense_variant,p.Pro2519Thr,ENST00000477086,;MUC4,missense_variant,p.Pro2519Thr,ENST00000480843,;MUC4,missense_variant,p.Pro2519Thr,ENST00000462323,;MUC4,missense_variant,p.Pro2519Thr,ENST00000470451,;MUC4,missense_variant,p.Pro2519Thr,ENST00000479406,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 8015/17110 7555/16239 2519/5412 P/T Ccc/Acc COSM2945417 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.05) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS GGA . . 195784025 AC116565.1 . GRCh38 chr4 575814 575814 + Missense_Mutation SNP T T G novel 7316-32 BS_C9A3X8GK T T c.249A>C p.Glu83Asp p.E83D ENST00000610212 1/1 74 57 12 38 38 0 AC116565.1,missense_variant,p.Glu83Asp,ENST00000610212,;AC116565.2,upstream_gene_variant,,ENST00000637674,; G ENSG00000273238 ENST00000610212 Transcript missense_variant 487/2421 249/1158 83/385 E/D gaA/gaC 1 -1 AC116565.1 Clone_based_ensembl_gene protein_coding YES ENSP00000493161 A0A286YF58 UPI00024CAC03 benign(0) 1/1 mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS GTT . . 575814 AFAP1 . GRCh38 chr4 7793832 7793832 + Splice_Region SNP G G T novel 7316-32 BS_C9A3X8GK G G c.1267-6C>A ENST00000420658 68 59 8 36 35 0 AFAP1,splice_region_variant,,ENST00000358461,NM_198595.2;AFAP1,splice_region_variant,,ENST00000360265,;AFAP1,splice_region_variant,,ENST00000382543,;AFAP1,splice_region_variant,,ENST00000420658,NM_001134647.1;AFAP1,splice_region_variant,,ENST00000513842,;AFAP1,upstream_gene_variant,,ENST00000508415,; T ENSG00000196526 ENST00000420658 Transcript splice_region_variant,intron_variant 1 -1 AFAP1 HGNC HGNC:24017 protein_coding YES CCDS47010.1 ENSP00000410689 Q8N556 UPI000048041E NM_001134647.1 10/17 LOW 1 SNV 2 PASS TGA . . 7793832 DEK . GRCh38 chr6 18264383 18264383 + Splice_Site SNP A A C novel 7316-32 BS_C9A3X8GK A A c.-10+2T>G ENST00000397239 77 63 6 52 51 0 DEK,splice_donor_variant,,ENST00000244776,NM_001134709.1;DEK,splice_donor_variant,,ENST00000397239,NM_003472.3;DEK,splice_donor_variant,,ENST00000503715,;DEK,upstream_gene_variant,,ENST00000515742,;DEK,splice_donor_variant,,ENST00000505224,;,regulatory_region_variant,,ENSR00000194258,; C ENSG00000124795 ENST00000397239 Transcript splice_donor_variant 1 -1 DEK HGNC HGNC:2768 protein_coding YES CCDS34344.1 ENSP00000380414 P35659 UPI0000001C2C NM_003472.3 1/10 HIGH 1 SNV 1 1 PASS TAC . . 18264383 MUCL3 . GRCh38 chr6 30951280 30951280 + Missense_Mutation SNP G G C 7316-32 BS_C9A3X8GK G G c.2816G>C p.Arg939Pro p.R939P ENST00000462446 2/3 63 50 10 46 36 1 MUCL3,missense_variant,p.Arg1006Pro,ENST00000636043,;MUCL3,missense_variant,p.Arg939Pro,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320203,; C ENSG00000168631 ENST00000462446 Transcript missense_variant 2844/5314 2816/4182 939/1393 R/P cGa/cCa COSM6031256,COSM5764028 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.28) benign(0.009) 2/3 mobidb-lite,hmmpanther:PTHR22094 1,1 MODERATE SNV 5 1,1 1 PASS CGA . . 30951280 C6orf132 . GRCh38 chr6 42106576 42106576 + Missense_Mutation SNP T T G novel 7316-32 BS_C9A3X8GK T T c.1336A>C p.Asn446His p.N446H ENST00000341865 4/5 75 57 12 38 36 0 C6orf132,missense_variant,p.Asn446His,ENST00000341865,NM_001164446.2;,regulatory_region_variant,,ENSR00000196928,; G ENSG00000188112 ENST00000341865 Transcript missense_variant 1336/6210 1336/3567 446/1188 N/H Aac/Cac 1 -1 C6orf132 HGNC HGNC:21288 protein_coding YES CCDS47428.1 ENSP00000341368 Q5T0Z8 UPI0001A5E4A3 NM_001164446.2 deleterious_low_confidence(0.02) benign(0.19) 4/5 hmmpanther:PTHR35077,hmmpanther:PTHR35077:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TTG . . 42106576 SAMD5 . GRCh38 chr6 147509202 147509202 + Missense_Mutation SNP A A C rs535026861 7316-32 BS_C9A3X8GK A A c.274A>C p.Thr92Pro p.T92P ENST00000367474 1/2 77 61 13 27 27 0 SAMD5,missense_variant,p.Thr92Pro,ENST00000367474,NM_001030060.2;SAMD5,upstream_gene_variant,,ENST00000566741,;,regulatory_region_variant,,ENSR00000323616,; C ENSG00000203727 ENST00000367474 Transcript missense_variant 276/6089 274/522 92/173 T/P Acc/Ccc rs535026861 1 1 SAMD5 HGNC HGNC:21180 protein_coding YES CCDS34548.1 ENSP00000356444 Q5TGI4 UPI000022CCF8 NM_001030060.2 tolerated(0.31) benign(0) 1/2 mobidb-lite 0.0164 0.031 0.0101 0.002 0.0139 0.0184 MODERATE 1 SNV 2 PASS CAC . . 0.0003088 0.001881 147509202 LPAL2 . GRCh38 chr6 160467023 160467024 + Splice_Region INS - - A rs1193900964 7316-32 BS_C9A3X8GK - - n.1752-7dup ENST00000454031 53 39 7 29 28 0 LPAL2,splice_region_variant,,ENST00000435757,;LPAL2,splice_region_variant,,ENST00000606083,;LPAL2,downstream_gene_variant,,ENST00000335388,;LPAL2,splice_region_variant,,ENST00000454031,; A ENSG00000213071 ENST00000454031 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1193900964 1 -1 LPAL2 HGNC HGNC:21210 transcribed_unprocessed_pseudogene YES 11/16 LOW 1 insertion PASS AGA . . 160467023 MUC17 . GRCh38 chr7 101032432 101032432 + Missense_Mutation SNP C C T rs4729645 7316-32 BS_C9A3X8GK C C c.1016C>T p.Thr339Met p.T339M ENST00000306151 3/13 79 72 5 42 42 0 MUC17,missense_variant,p.Thr339Met,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr339Met,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 1080/14247 1016/13482 339/4493 T/M aCg/aTg rs4729645,COSM1637073 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.26) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 0.0755 0.0008 0.013 0.1875 0.003 0.18 0.002951 0.001163 0,1 26285705 MODERATE 1 SNV 1 0,1 PASS ACG . . 0.04026 0.001438 0.05118 0.1666 0.03049 0.001493 0.02323 0.1403 101032432 MUC17 . GRCh38 chr7 101041978 101041978 + Missense_Mutation SNP A A T rs760114087 7316-32 BS_C9A3X8GK A A c.10562A>T p.Asn3521Ile p.N3521I ENST00000306151 3/13 79 66 7 37 37 0 MUC17,missense_variant,p.Asn3521Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn3521Ile,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 10626/14247 10562/13482 3521/4493 N/I aAt/aTt rs760114087,COSM6449659 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.1) benign(0.246) 3/13 hmmpanther:PTHR37999,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS AAT . . 1.28e-05 2.76e-05 101041978 TIGD5 . GRCh38 chr8 143598586 143598586 + Missense_Mutation SNP A A C novel 7316-32 BS_C9A3X8GK A A c.683A>C p.Glu228Ala p.E228A ENST00000504548 1/1 60 41 8 43 43 0 TIGD5,missense_variant,p.Glu228Ala,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; C ENSG00000179886 ENST00000504548 Transcript missense_variant 752/5390 683/1929 228/642 E/A gAg/gCg 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 tolerated(0.2) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45428 MODERATE SNV PASS GAG . . 143598586 ZNF517 . GRCh38 chr8 144808165 144808165 + Missense_Mutation SNP A A T novel 7316-32 BS_C9A3X8GK A A c.1249A>T p.Ile417Phe p.I417F ENST00000359971 5/5 127 113 10 31 31 0 ZNF517,missense_variant,p.Ile417Phe,ENST00000359971,NM_213605.2,NM_001317936.1;ZNF517,missense_variant,p.Ile417Phe,ENST00000531720,;ZNF517,missense_variant,p.Ile384Phe,ENST00000529429,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,downstream_gene_variant,,ENST00000528012,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,missense_variant,p.Ile417Phe,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,; T ENSG00000197363 ENST00000359971 Transcript missense_variant 1356/2335 1249/1479 417/492 I/F Atc/Ttc 1 1 ZNF517 HGNC HGNC:27984 protein_coding YES CCDS6434.1 ENSP00000353058 Q6ZMY9 UPI000045770F NM_213605.2,NM_001317936.1 deleterious(0.01) possibly_damaging(0.761) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.28.30,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS GAT . . 144808165 TLN1 . GRCh38 chr9 35710995 35710995 + Missense_Mutation SNP T T G novel 7316-32 BS_C9A3X8GK T T c.4107A>C p.Glu1369Asp p.E1369D ENST00000314888 31/57 81 70 9 45 43 0 TLN1,missense_variant,p.Glu1369Asp,ENST00000314888,NM_006289.3;MIR6852,upstream_gene_variant,,ENST00000621699,;TLN1,upstream_gene_variant,,ENST00000464379,;TLN1,upstream_gene_variant,,ENST00000495712,;TLN1,upstream_gene_variant,,ENST00000486788,; G ENSG00000137076 ENST00000314888 Transcript missense_variant 4461/8823 4107/7626 1369/2541 E/D gaA/gaC 1 -1 TLN1 HGNC HGNC:11845 protein_coding YES CCDS35009.1 ENSP00000316029 Q9Y490 UPI0000211375 NM_006289.3 tolerated(0.13) benign(0.109) 31/57 Low_complexity_(Seg):seg,Gene3D:1.20.1420.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981 MODERATE 1 SNV 1 PASS ATT . . 35710995 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-32 BS_C9A3X8GK A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 70 57 9 45 44 1 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 LARGE2 . GRCh38 chr11 45922911 45922911 + Missense_Mutation SNP T T G novel 7316-32 BS_C9A3X8GK T T c.29T>G p.Leu10Arg p.L10R ENST00000531526 2/14 100 74 22 35 35 0 LARGE2,missense_variant,p.Leu10Arg,ENST00000531526,NM_152312.4;LARGE2,missense_variant,p.Leu10Arg,ENST00000325468,;LARGE2,missense_variant,p.Leu10Arg,ENST00000401752,NM_001300721.1;LARGE2,missense_variant,p.Leu10Arg,ENST00000529052,NM_001300722.1;PEX16,upstream_gene_variant,,ENST00000378750,NM_004813.2;PEX16,upstream_gene_variant,,ENST00000525192,;PEX16,upstream_gene_variant,,ENST00000532681,;LARGE2,upstream_gene_variant,,ENST00000534410,;LARGE2,upstream_gene_variant,,ENST00000414027,;LARGE2,upstream_gene_variant,,ENST00000525609,;LARGE2,upstream_gene_variant,,ENST00000528236,;PEX16,upstream_gene_variant,,ENST00000528674,;PEX16,upstream_gene_variant,,ENST00000529030,;LARGE2,upstream_gene_variant,,ENST00000530437,;,regulatory_region_variant,,ENSR00000039462,; G ENSG00000165905 ENST00000531526 Transcript missense_variant 140/2528 29/2166 10/721 L/R cTg/cGg 1 1 LARGE2 HGNC HGNC:16522 protein_coding YES CCDS31473.1 ENSP00000432869 Q8N3Y3 UPI000004B639 NM_152312.4 deleterious_low_confidence(0) benign(0.145) 2/14 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12270:SF23,hmmpanther:PTHR12270 MODERATE 1 SNV 2 PASS CTG . . 45922911 AHNAK . GRCh38 chr11 62522261 62522261 + Missense_Mutation SNP A A T rs1295588648 7316-32 BS_C9A3X8GK A A c.12156T>A p.His4052Gln p.H4052Q ENST00000378024 5/5 75 66 8 25 25 0 AHNAK,missense_variant,p.His4052Gln,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 12431/18787 12156/17673 4052/5890 H/Q caT/caA rs1295588648,COSM4411984,COSM4411983 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.35) benign(0.003) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CAT . . 62522261 AHNAK . GRCh38 chr11 62530459 62530459 + Missense_Mutation SNP C C T rs200652890 7316-32 BS_C9A3X8GK C C c.3958G>A p.Ala1320Thr p.A1320T ENST00000378024 5/5 70 56 9 39 39 0 AHNAK,missense_variant,p.Ala1320Thr,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000528508,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000531324,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 4233/18787 3958/17673 1320/5890 A/T Gcc/Acc rs200652890,COSM5956278,COSM5956277 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.25) benign(0.013) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GCC . . 2.03e-05 0.0001739 1.79e-05 62530459 ZNF705A . GRCh38 chr12 8175287 8175287 + Missense_Mutation SNP C C T rs201454011 7316-32 BS_C9A3X8GK C C c.199C>T p.Arg67Trp p.R67W ENST00000359286 3/5 74 63 10 46 45 0 ZNF705A,missense_variant,p.Arg67Trp,ENST00000359286,NM_001004328.2;ZNF705A,missense_variant,p.Arg67Trp,ENST00000610508,;ZNF705A,missense_variant,p.Arg67Trp,ENST00000396570,;ZNF705A,upstream_gene_variant,,ENST00000398526,;FAM66C,upstream_gene_variant,,ENST00000454799,;FAM66C,upstream_gene_variant,,ENST00000456135,;FAM66C,upstream_gene_variant,,ENST00000541558,;FAM66C,upstream_gene_variant,,ENST00000544214,;AC092111.3,3_prime_UTR_variant,,ENST00000402465,; T ENSG00000196946 ENST00000359286 Transcript missense_variant 288/3455 199/903 67/300 R/W Cgg/Tgg rs201454011,COSM3733520 1 1 ZNF705A HGNC HGNC:32281 protein_coding YES CCDS31737.1 ENSP00000352233 Q6ZN79 UPI000035E780 NM_001004328.2 deleterious(0) benign(0.061) 3/5 PROSITE_profiles:PS50805,hmmpanther:PTHR24381:SF239,hmmpanther:PTHR24381,SMART_domains:SM00349 0,1 MODERATE SNV 2 0,1 PASS GCG . . 0.006 0.001869 0.01587 0.00218 0.0129 0.002025 0.003352 0.007842 0.004214 8175287 PRB2 . GRCh38 chr12 11393922 11393924 + In_Frame_Del DEL AGA AGA - rs200312236 7316-32 BS_C9A3X8GK AGA AGA c.154_156del p.Ser52del p.S52del ENST00000389362 3/4 66 39 7 25 18 0 PRB2,inframe_deletion,p.Ser52del,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;,regulatory_region_variant,,ENSR00000267187,; - ENSG00000121335 ENST00000389362 Transcript inframe_deletion 190-192/1429 154-156/1251 52/416 S/- TCT/- rs200312236,COSM392584 1 -1 PRB2 HGNC HGNC:9338 protein_coding YES CCDS41757.2 ENSP00000374013 P02812 UPI0000EE5993 NM_006248.3 3/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,Pfam_domain:PF15240,SMART_domains:SM01412 0.003378 0.002705 0,1 MODERATE 1 deletion 5 0,1 PASS GGAGAT . . 2.068e-05 2.727e-05 6.609e-05 11393921 TRHDE . GRCh38 chr12 72621751 72621751 + Missense_Mutation SNP G G A novel 7316-32 BS_C9A3X8GK G G c.2540G>A p.Arg847Lys p.R847K ENST00000261180 15/19 100 94 5 39 39 0 TRHDE,missense_variant,p.Arg847Lys,ENST00000261180,NM_013381.2;TRHDE,downstream_gene_variant,,ENST00000549138,;TRHDE,downstream_gene_variant,,ENST00000549922,; A ENSG00000072657 ENST00000261180 Transcript missense_variant,splice_region_variant 2636/10733 2540/3075 847/1024 R/K aGa/aAa 1 1 TRHDE HGNC HGNC:30748 protein_coding YES CCDS9004.1 ENSP00000261180 Q9UKU6 UPI0000136D52 NM_013381.2 tolerated(0.98) benign(0.072) 15/19 Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40 MODERATE 1 SNV 1 PASS AGG . . 72621751 MYH6 . GRCh38 chr14 23405304 23405304 + Missense_Mutation SNP C C T rs776853139 7316-32 BS_C9A3X8GK C C c.421G>A p.Ala141Thr p.A141T ENST00000405093 5/39 91 85 6 35 34 1 MYH6,missense_variant,p.Ala141Thr,ENST00000405093,NM_002471.3;MYH6,missense_variant,p.Ala141Thr,ENST00000356287,;MYH6,non_coding_transcript_exon_variant,,ENST00000557461,; T ENSG00000197616 ENST00000405093 Transcript missense_variant 492/5941 421/5820 141/1939 A/T Gcc/Acc rs776853139 1 -1 MYH6 HGNC HGNC:7576 protein_coding YES CCDS9600.1 ENSP00000386041 P13533 UPI0000160969 NM_002471.3 deleterious(0.03) possibly_damaging(0.902) 5/39 Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF344,SMART_domains:SM00242,Superfamily_domains:SSF52540,cd01377 uncertain_significance 23861362 MODERATE 1 SNV 5 1 PASS GCG . . 8.121e-06 5.798e-05 8.951e-06 23405304 AL136295.3 . GRCh38 chr14 24131562 24131562 + Missense_Mutation SNP A A C novel 7316-32 BS_C9A3X8GK A A c.583A>C p.Asn195Thr p.N195T ENST00000558325 4/4 97 73 18 34 34 0 AL136295.3,missense_variant,p.Asn195Thr,ENST00000558325,;FITM1,5_prime_UTR_variant,,ENST00000267426,NM_203402.2;PSME1,upstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;PSME1,upstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,upstream_gene_variant,,ENST00000559123,;FITM1,upstream_gene_variant,,ENST00000559294,;PSME1,upstream_gene_variant,,ENST00000561435,NM_001281528.1;PSME1,upstream_gene_variant,,ENST00000470718,;PSME1,upstream_gene_variant,,ENST00000561059,;PSME1,upstream_gene_variant,,ENST00000561142,;,regulatory_region_variant,,ENSR00000066829,; C ENSG00000259371 ENST00000558325 Transcript missense_variant 583/850 584/851 195/283 N/T aAc/aCc 1 1 AL136295.3 Clone_based_ensembl_gene protein_coding YES ENSP00000453089 H0YL77 UPI0004620A05 deleterious_low_confidence(0.01) benign(0.024) 4/4 MODERATE SNV 5 PASS AAC . . 24131562 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-32 BS_C9A3X8GK A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 89 66 10 39 39 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 HMOX2 . GRCh38 chr16 4483743 4483743 + Splice_Region SNP G G C rs1359684911 7316-32 BS_C9A3X8GK G G c.-42+5G>C ENST00000572812 86 70 13 21 21 0 HMOX2,splice_region_variant,,ENST00000572812,;HMOX2,5_prime_UTR_variant,,ENST00000458134,NM_001127204.1;HMOX2,5_prime_UTR_variant,,ENST00000570445,;HMOX2,intron_variant,,ENST00000219700,;HMOX2,intron_variant,,ENST00000406590,NM_001127206.2;HMOX2,intron_variant,,ENST00000570646,;HMOX2,intron_variant,,ENST00000574466,;HMOX2,intron_variant,,ENST00000575051,;HMOX2,intron_variant,,ENST00000575120,NM_001286271.1;HMOX2,intron_variant,,ENST00000576827,;HMOX2,intron_variant,,ENST00000619528,NM_001286269.1;HMOX2,intron_variant,,ENST00000619913,NM_001286268.1,NM_002134.3;HMOX2,non_coding_transcript_exon_variant,,ENST00000574594,;NMRAL1,intron_variant,,ENST00000572559,; C ENSG00000103415 ENST00000572812 Transcript splice_region_variant,intron_variant rs1359684911 1 1 HMOX2 HGNC HGNC:5014 protein_coding ENSP00000459445 I3L276 UPI00025A2F7E 2/4 LOW SNV 4 PASS GGT . . 4483743 NPIPB2 . GRCh38 chr16 11927609 11927609 + Missense_Mutation SNP G G T rs774326444 7316-32 BS_C9A3X8GK G G c.958C>A p.Leu320Ile p.L320I ENST00000399147 8/8 73 58 13 36 35 0 NPIPB2,missense_variant,p.Leu320Ile,ENST00000399147,;NPIPB2,missense_variant,p.Leu303Ile,ENST00000547494,;NPIPB2,downstream_gene_variant,,ENST00000538896,;NPIPB2,downstream_gene_variant,,ENST00000620285,;NPIPB2,non_coding_transcript_exon_variant,,ENST00000540412,;NPIPB2,downstream_gene_variant,,ENST00000356023,;AC007216.5,downstream_gene_variant,,ENST00000612457,; T ENSG00000234719 ENST00000399147 Transcript missense_variant 958/1194 958/1194 320/397 L/I Ctc/Atc rs774326444 1 -1 NPIPB2 HGNC HGNC:37451 protein_coding YES ENSP00000382101 A6NJ64 A0A0A6YYH2 UPI000204A8FF deleterious_low_confidence(0.02) possibly_damaging(0.711) 8/8 hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF5,mobidb-lite MODERATE 1 SNV 5 PASS AGA . . 11927609 TBC1D10B . GRCh38 chr16 30370182 30370182 + Translation_Start_Site SNP A A C novel 7316-32 BS_C9A3X8GK A A c.2T>G p.Met1? p.M1? ENST00000409939 1/9 77 71 5 35 35 0 TBC1D10B,start_lost,p.Met1?,ENST00000409939,NM_015527.3;MYLPF,upstream_gene_variant,,ENST00000322861,NM_013292.4,NM_001324458.1,NM_001324459.1;TBC1D10B,upstream_gene_variant,,ENST00000490703,;MYLPF,upstream_gene_variant,,ENST00000563718,;MYLPF,upstream_gene_variant,,ENST00000568749,;TBC1D10B,upstream_gene_variant,,ENST00000464644,;TBC1D10B,upstream_gene_variant,,ENST00000478158,;,regulatory_region_variant,,ENSR00000085187,; C ENSG00000169221 ENST00000409939 Transcript start_lost 83/3350 2/2427 1/808 M/R aTg/aGg 1 -1 TBC1D10B HGNC HGNC:24510 protein_coding YES CCDS10676.2 ENSP00000386538 Q4KMP7 UPI000164FA1A NM_015527.3 deleterious_low_confidence(0) benign(0.158) 1/9 mobidb-lite HIGH 1 SNV 1 PASS CAT . . 30370182 ZNF676 . GRCh38 chr19 22180611 22180611 + Missense_Mutation SNP C C T rs75690456 7316-32 BS_C9A3X8GK C C c.1106G>A p.Gly369Glu p.G369E ENST00000397121 3/3 73 59 9 46 46 0 ZNF676,missense_variant,p.Gly369Glu,ENST00000397121,NM_001001411.2; T ENSG00000196109 ENST00000397121 Transcript missense_variant 1424/2944 1106/1767 369/588 G/E gGa/gAa rs75690456,COSM6482756,COSM3756559 1 -1 ZNF676 HGNC HGNC:20429 protein_coding YES CCDS42539.1 ENSP00000380310 Q8N7Q3 UPI00002376EC NM_001001411.2 tolerated(1) benign(0.007) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TCC . . 0.0005689 0.0006437 0.0009262 0.0007993 0.001968 4.821e-05 0.0003848 0.0007236 0.0006322 22180611 ZNF850 . GRCh38 chr19 36749942 36749942 + Missense_Mutation SNP G G C 7316-32 BS_C9A3X8GK G G c.1098C>G p.Asp366Glu p.D366E ENST00000591344 5/5 72 59 6 51 50 0 ZNF850,missense_variant,p.Asp366Glu,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Asp334Glu,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; C ENSG00000267041 ENST00000591344 Transcript missense_variant 1257/7714 1098/3273 366/1090 D/E gaC/gaG COSM6235945,COSM6235944 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 tolerated(1) benign(0.023) 5/5 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS AGT . . 36749942 KCNC3 . GRCh38 chr19 50323140 50323140 + Missense_Mutation SNP T T G novel 7316-32 BS_C9A3X8GK T T c.1813A>C p.Met605Leu p.M605L ENST00000477616 2/5 82 66 10 41 40 0 KCNC3,missense_variant,p.Met605Leu,ENST00000376959,;KCNC3,missense_variant,p.Met605Leu,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000474951,; G ENSG00000131398 ENST00000477616 Transcript missense_variant 2108/3176 1813/2274 605/757 M/L Atg/Ctg 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 tolerated_low_confidence(0.59) benign(0) 2/5 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF184,mobidb-lite MODERATE 1 SNV 1 1 PASS ATG . . 50323140 ZNF761 . GRCh38 chr19 53456655 53456655 + Missense_Mutation SNP A A T rs1249386279 7316-32 BS_C9A3X8GK A A c.2148A>T p.Lys716Asn p.K716N ENST00000432094 5/5 76 66 9 56 53 0 ZNF761,missense_variant,p.Lys716Asn,ENST00000432094,NM_001289952.1,NM_001008401.3,NM_001289951.1;ZNF761,missense_variant,p.Lys716Asn,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,; T ENSG00000160336 ENST00000432094 Transcript missense_variant 2455/4061 2148/2241 716/746 K/N aaA/aaT rs1249386279 1 1 ZNF761 HGNC HGNC:23179 protein_coding ENSP00000480218 Q86XN6 UPI0001825C19 NM_001289952.1,NM_001008401.3,NM_001289951.1 deleterious(0.02) possibly_damaging(0.592) 5/5 Gene3D:2.20.25.10,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAC . . 53456655 KRTAP10-4 . GRCh38 chr21 44574784 44574784 + Missense_Mutation SNP A A T novel 7316-32 BS_C9A3X8GK A A c.1026A>T p.Gln342His p.Q342H ENST00000400374 1/1 103 86 7 38 38 0 KRTAP10-4,missense_variant,p.Gln342His,ENST00000400374,NM_198687.2;KRTAP10-4,missense_variant,p.Gln139His,ENST00000616689,;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000622352,;KRTAP10-5,downstream_gene_variant,,ENST00000400372,NM_198694.3;TSPEAR,upstream_gene_variant,,ENST00000397916,;TSPEAR,intron_variant,,ENST00000642437,; T ENSG00000215454 ENST00000400374 Transcript missense_variant 1056/1643 1026/1206 342/401 Q/H caA/caT 1 1 KRTAP10-4 HGNC HGNC:20521 protein_coding YES CCDS42957.1 ENSP00000383225 P60372 UPI00003D4D6E NM_198687.2 tolerated(0.15) benign(0.353) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF142,Low_complexity_(Seg):seg MODERATE SNV PASS AAT . . 44574784 TEX13D . GRCh38 chrX 124334806 124334806 + Missense_Mutation SNP G G A rs1023730611 7316-32 BS_C9A3X8GK G G c.1889G>A p.Gly630Asp p.G630D ENST00000632372 1/1 59 51 7 22 21 0 TEX13D,missense_variant,p.Gly630Asp,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; A ENSG00000282419 ENST00000632372 Transcript missense_variant 2147/4203 1889/2145 630/714 G/D gGc/gAc rs1023730611,COSM5956512 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.52) benign(0.035) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite 0,1 MODERATE 1 SNV 0,1 PASS GGC . . 124334806 TENM1 . GRCh38 chrX 124520792 124520792 + Splice_Region DEL A A - rs112813437 7316-32 BS_C9A3X8GK A A c.3034-8del ENST00000422452 40 25 10 16 12 0 TENM1,splice_region_variant,,ENST00000371130,NM_014253.3;TENM1,splice_region_variant,,ENST00000422452,NM_001163278.1,NM_001163279.1; - ENSG00000009694 ENST00000422452 Transcript splice_region_variant,intron_variant rs112813437 1 -1 TENM1 HGNC HGNC:8117 protein_coding YES CCDS55488.1 ENSP00000403954 Q9UKZ4 UPI0000211B6A NM_001163278.1,NM_001163279.1 17/31 LOW 1 deletion 1 1 PASS ATAA . . 0.2019 0.1147 0.2357 0.1685 0.2617 0.1373 0.2208 0.2232 0.1658 124520791 MT-CYB . GRCh38 chrM 15639 15639 + Missense_Mutation SNP T T C novel 7316-32 BS_C9A3X8GK T T c.893T>C p.Ile298Thr p.I298T ENST00000361789 1/1 32970 29186 3352 3183 3079 36 MT-CYB,missense_variant,p.Ile298Thr,ENST00000361789,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND5,downstream_gene_variant,,ENST00000361567,;MT-ND6,upstream_gene_variant,,ENST00000361681,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,upstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339372,; C ENSG00000198727 ENST00000361789 Transcript missense_variant 893/1141 893/1141 298/380 I/T aTc/aCc 1 1 MT-CYB HGNC HGNC:7427 protein_coding YES ENSP00000354554 P00156 Q0ZFD6 UPI0000DA7DCA deleterious_low_confidence(0) probably_damaging(0.996) 1/1 PDB-ENSP_mappings:5xte.J,PDB-ENSP_mappings:5xte.V,PDB-ENSP_mappings:5xth.AJ,PDB-ENSP_mappings:5xth.AV,PDB-ENSP_mappings:5xti.AJ,PDB-ENSP_mappings:5xti.AV,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS51003,cd00290,hmmpanther:PTHR19271,Pfam_domain:PF00032,Gene3D:1.20.810.10,PIRSF_domain:PIRSF038885,Superfamily_domains:SSF81648 MODERATE 1 SNV 1 PASS ATC . . 15639 RETNLB . GRCh38 chr3 108755861 108755861 + Missense_Mutation SNP A A T novel 7316-77 BS_RKNNAG23 A A c.253T>A p.Trp85Arg p.W85R ENST00000295755 3/3 77 48 26 29 26 3 RETNLB,missense_variant,p.Trp85Arg,ENST00000295755,NM_032579.2;RETNLB,intron_variant,,ENST00000482939,; T ENSG00000163515 ENST00000295755 Transcript missense_variant 452/676 253/336 85/111 W/R Tgg/Agg 1 -1 RETNLB HGNC HGNC:20388 protein_coding YES CCDS2953.1 ENSP00000295755 Q9BQ08 UPI00000015BE NM_032579.2 deleterious(0) probably_damaging(0.999) 3/3 cd16333,hmmpanther:PTHR21101:SF13,hmmpanther:PTHR21101,Pfam_domain:PF06954,Superfamily_domains:SSF111423 MODERATE 1 SNV 1 PASS CAC . . 108755861 PIK3CA . GRCh38 chr3 179234297 179234297 + Missense_Mutation SNP A A G rs121913279 7316-77 BS_RKNNAG23 A A c.3140A>G p.His1047Arg p.H1047R ENST00000263967 21/21 80 53 25 42 42 0 PIK3CA,missense_variant,p.His1047Arg,ENST00000263967,NM_006218.3;PIK3CA,3_prime_UTR_variant,,ENST00000643187,;KCNMB3,downstream_gene_variant,,ENST00000485523,NM_171829.2; G ENSG00000121879 ENST00000263967 Transcript missense_variant 3297/9093 3140/3207 1047/1068 H/R cAt/cGt rs121913279,COSM94987,COSM94986,COSM776,COSM775,COSM249874 1 1 PIK3CA HGNC HGNC:8975 protein_coding YES CCDS43171.1 ENSP00000263967 P42336 UPI000013D494 NM_006218.3 tolerated(0.11) benign(0.085) 21/21 Gene3D:1.10.1070.11,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5dxt.A,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5ubr.A,PDB-ENSP_mappings:5uk8.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,PIRSF_domain:PIRSF000587,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF94,SMART_domains:SM00146,Superfamily_domains:SSF56112,cd05175 likely_pathogenic,pathogenic 0,1,1,1,1,1 15520168,15608678,17673550,23946963,15016963,22658544,22729222,26266975,26266985,28163917,25710561,28347348 MODERATE 1 SNV 2 1,1,1,1,1,1 1 PASS CAT . . 4.083e-06 9.04e-06 179234297 CLRN2 . GRCh38 chr4 17526882 17526882 + Nonsense_Mutation SNP C C T rs774584580 7316-77 BS_RKNNAG23 C C c.499C>T p.Arg167Ter p.R167* ENST00000511148 3/3 75 40 35 35 35 0 CLRN2,stop_gained,p.Arg167Ter,ENST00000511148,NM_001079827.2; T ENSG00000249581 ENST00000511148 Transcript stop_gained 601/823 499/699 167/232 R/* Cga/Tga rs774584580 1 1 CLRN2 HGNC HGNC:33939 protein_coding YES CCDS47032.1 ENSP00000424711 A0PK11 UPI0000D6154A NM_001079827.2 3/3 hmmpanther:PTHR31548:SF5,hmmpanther:PTHR31548,blastprodom:PD525711 HIGH 1 SNV 1 PASS ACG . . 4.061e-06 6.539e-05 17526882 BBS9 . GRCh38 chr7 33155705 33155705 + Splice_Region SNP A A C rs201427449 7316-77 BS_RKNNAG23 A A c.328+3A>C ENST00000242067 58 53 5 34 34 0 BBS9,splice_region_variant,,ENST00000242067,NM_198428.2,NM_001348043.2,NM_001348038.2;BBS9,splice_region_variant,,ENST00000350941,NM_014451.3,NM_001348040.2;BBS9,splice_region_variant,,ENST00000355070,NM_001033605.1;BBS9,splice_region_variant,,ENST00000396127,NM_001033604.1,NM_001348039.2;BBS9,splice_region_variant,,ENST00000425508,;BBS9,downstream_gene_variant,,ENST00000432983,;BBS9,upstream_gene_variant,,ENST00000442858,;BBS9,splice_region_variant,,ENST00000465037,;BBS9,downstream_gene_variant,,ENST00000482941,;BBS9,splice_region_variant,,ENST00000433714,; C ENSG00000122507 ENST00000242067 Transcript splice_region_variant,intron_variant rs201427449 1 1 BBS9 HGNC HGNC:30000 protein_coding YES CCDS43566.1 ENSP00000242067 Q3SYG4 A0A090N8P4 UPI000020ED57 NM_198428.2,NM_001348043.2,NM_001348038.2 4/22 LOW 1 SNV 1 1 PASS TAA . . 33155705 SRRT . GRCh38 chr7 100884419 100884421 + In_Frame_Del DEL AGG AGG - rs751707381 7316-77 BS_RKNNAG23 AGG AGG c.823_825del p.Glu275del p.E275del ENST00000611405 7/20 71 58 6 34 30 0 SRRT,inframe_deletion,p.Glu275del,ENST00000614484,NM_001128852.1;SRRT,inframe_deletion,p.Glu275del,ENST00000618262,NM_001128853.1;SRRT,inframe_deletion,p.Glu275del,ENST00000611405,NM_015908.5;SRRT,inframe_deletion,p.Glu275del,ENST00000618411,NM_001128854.1;UFSP1,downstream_gene_variant,,ENST00000388761,NM_001015072.3;SRRT,downstream_gene_variant,,ENST00000431645,;SRRT,upstream_gene_variant,,ENST00000448764,;SRRT,non_coding_transcript_exon_variant,,ENST00000474896,;SRRT,downstream_gene_variant,,ENST00000423692,;SRRT,upstream_gene_variant,,ENST00000445337,;SRRT,upstream_gene_variant,,ENST00000449389,;SRRT,upstream_gene_variant,,ENST00000460194,;SRRT,upstream_gene_variant,,ENST00000466432,;SRRT,upstream_gene_variant,,ENST00000469602,;SRRT,upstream_gene_variant,,ENST00000477529,;SRRT,upstream_gene_variant,,ENST00000478693,;SRRT,upstream_gene_variant,,ENST00000487311,;SRRT,downstream_gene_variant,,ENST00000614370,;SRRT,downstream_gene_variant,,ENST00000641476,; - ENSG00000087087 ENST00000611405 Transcript inframe_deletion 968-970/2905 809-811/2631 270-271/876 QE/Q cAGGag/cag rs751707381,COSM1083176 1 1 SRRT HGNC HGNC:24101 protein_coding YES CCDS34709.1 ENSP00000480421 Q9BXP5 UPI0000126098 NM_015908.5 7/20 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13165,hmmpanther:PTHR13165:SF0 0,1 MODERATE 1 deletion 1 14 0,1 PASS GCAGGA . . 0.0009927 0.0006585 0.00142 0.001029 0.00116 0.0004125 0.001217 0.0005092 0.0003355 100884418 KCP . GRCh38 chr7 128886914 128886914 + Missense_Mutation SNP T T G rs1201472562 7316-77 BS_RKNNAG23 T T c.2651A>C p.His884Pro p.H884P ENST00000610776 24/40 77 59 10 41 39 0 KCP,missense_variant,p.His884Pro,ENST00000610776,;KCP,missense_variant,p.His888Pro,ENST00000613019,;KCP,missense_variant,p.His824Pro,ENST00000620378,NM_001135914.1;KCP,downstream_gene_variant,,ENST00000612224,NM_199349.2;KCP,missense_variant,p.His888Pro,ENST00000611280,;KCP,downstream_gene_variant,,ENST00000616669,; G ENSG00000135253 ENST00000610776 Transcript missense_variant 2694/5108 2651/4887 884/1628 H/P cAc/cCc rs1201472562 1 -1 KCP HGNC HGNC:17585 protein_coding YES ENSP00000479679 A0A087WVT8 UPI0004620CE8 tolerated(0.05) possibly_damaging(0.533) 24/40 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF280,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 7.22e-05 0.000117 0.0001471 0.0002336 0.0001477 4.061e-05 128886914 CALD1 . GRCh38 chr7 134933254 134933254 + Missense_Mutation SNP T T G novel 7316-77 BS_RKNNAG23 T T c.485T>G p.Ile162Arg p.I162R ENST00000361675 5/15 65 46 11 35 33 1 CALD1,missense_variant,p.Ile156Arg,ENST00000393118,NM_033139.3;CALD1,missense_variant,p.Ile162Arg,ENST00000361901,NM_004342.6;CALD1,missense_variant,p.Ile162Arg,ENST00000361675,NM_033138.3;CALD1,missense_variant,p.Ile162Arg,ENST00000422748,NM_033157.3;CALD1,missense_variant,p.Ile156Arg,ENST00000495522,;CALD1,missense_variant,p.Ile156Arg,ENST00000424922,NM_033140.3;CALD1,missense_variant,p.Ile162Arg,ENST00000417172,;CALD1,missense_variant,p.Ile162Arg,ENST00000436461,;CALD1,downstream_gene_variant,,ENST00000435928,;CALD1,downstream_gene_variant,,ENST00000445569,;CALD1,downstream_gene_variant,,ENST00000454108,;CALD1,downstream_gene_variant,,ENST00000496024,;CALD1,stop_lost,p.Ter86GluextTer82,ENST00000430085,;CALD1,missense_variant,p.Ile156Arg,ENST00000443197,;CALD1,non_coding_transcript_exon_variant,,ENST00000482470,;,regulatory_region_variant,,ENSR00000218533,; G ENSG00000122786 ENST00000361675 Transcript missense_variant 714/3612 485/2382 162/793 I/R aTa/aGa 1 1 CALD1 HGNC HGNC:1441 protein_coding YES CCDS5835.1 ENSP00000354826 Q05682 UPI0000140A64 NM_033138.3 deleterious(0) benign(0.328) 5/15 mobidb-lite,hmmpanther:PTHR18949,hmmpanther:PTHR18949:SF0,Pfam_domain:PF02029 MODERATE 1 SNV 1 PASS ATA . . 134933254 FGFR1 . GRCh38 chr8 38417331 38417331 + Missense_Mutation SNP G G T rs779707422 7316-77 BS_RKNNAG23 G G c.1731C>A p.Asn577Lys p.N577K ENST00000425967 13/19 86 49 37 37 35 0 FGFR1,missense_variant,p.Asn546Lys,ENST00000447712,NM_023110.2;FGFR1,missense_variant,p.Asn544Lys,ENST00000397091,NM_015850.3;FGFR1,missense_variant,p.Asn544Lys,ENST00000532791,NM_001174063.1;FGFR1,missense_variant,p.Asn577Lys,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Asn536Lys,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Asn457Lys,ENST00000356207,NM_001174066.1,NM_023105.2;FGFR1,missense_variant,p.Asn455Lys,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Asn544Lys,ENST00000397113,NM_001174065.1;FGFR1,missense_variant,p.Asn457Lys,ENST00000397103,;FGFR1,missense_variant,p.Asn544Lys,ENST00000397108,;FGFR1,3_prime_UTR_variant,,ENST00000341462,;FGFR1,3_prime_UTR_variant,,ENST00000619564,;AC087623.2,upstream_gene_variant,,ENST00000528407,;FGFR1,upstream_gene_variant,,ENST00000526688,;FGFR1,downstream_gene_variant,,ENST00000530701,;FGFR1,3_prime_UTR_variant,,ENST00000487647,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527114,;FGFR1,non_coding_transcript_exon_variant,,ENST00000466021,;FGFR1,non_coding_transcript_exon_variant,,ENST00000533619,;FGFR1,downstream_gene_variant,,ENST00000475621,;FGFR1,downstream_gene_variant,,ENST00000524528,;FGFR1,downstream_gene_variant,,ENST00000527745,;FGFR1,upstream_gene_variant,,ENST00000531196,; T ENSG00000077782 ENST00000425967 Transcript missense_variant 2054/5375 1731/2562 577/853 N/K aaC/aaA rs779707422,COSM1284966,COSM1284967,COSM1284968,COSM1737759,COSM19176,COSM302229,COSM302230,COSM302231,COSM3670398,COSM4971832 1 -1 FGFR1 HGNC HGNC:3688 protein_coding YES CCDS55223.1 ENSP00000393312 P11362 UPI0001CE06A3 NM_001174067.1 deleterious(0) probably_damaging(0.989) 13/19 Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00219,Superfamily_domains:SSF56112,cd05098 likely_pathogenic,pathogenic 0,1,1,1,1,1,1,1,1,1,1 10766980,23819449,26942290 MODERATE 1 SNV 1 1,1,1,1,1,1,1,1,1,1,1 1 PASS GGT . . 38417331 FGFR1 . GRCh38 chr8 38421883 38421883 + Missense_Mutation SNP G G A 7316-77 BS_RKNNAG23 G G c.1088C>T p.Ser363Phe p.S363F ENST00000425967 9/19 85 48 35 45 45 0 FGFR1,missense_variant,p.Ser332Phe,ENST00000447712,NM_023110.2;FGFR1,missense_variant,p.Ser330Phe,ENST00000397091,NM_015850.3;FGFR1,missense_variant,p.Ser332Phe,ENST00000532791,NM_001174063.1;FGFR1,missense_variant,p.Ser363Phe,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Ser324Phe,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Ser243Phe,ENST00000356207,NM_001174066.1,NM_023105.2;FGFR1,missense_variant,p.Ser241Phe,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Ser330Phe,ENST00000397113,NM_001174065.1;FGFR1,missense_variant,p.Ser330Phe,ENST00000397108,;FGFR1,3_prime_UTR_variant,,ENST00000341462,;FGFR1,intron_variant,,ENST00000397103,;FGFR1,intron_variant,,ENST00000619564,;FGFR1,downstream_gene_variant,,ENST00000525001,;FGFR1,downstream_gene_variant,,ENST00000526742,;FGFR1,downstream_gene_variant,,ENST00000529552,;FGFR1,downstream_gene_variant,,ENST00000533668,;AC087623.2,upstream_gene_variant,,ENST00000528407,;FGFR1,non_coding_transcript_exon_variant,,ENST00000530701,;FGFR1,downstream_gene_variant,,ENST00000527203,;FGFR1,3_prime_UTR_variant,,ENST00000487647,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000466021,;FGFR1,non_coding_transcript_exon_variant,,ENST00000475621,;FGFR1,downstream_gene_variant,,ENST00000464163,;FGFR1,downstream_gene_variant,,ENST00000470826,;FGFR1,downstream_gene_variant,,ENST00000474970,;FGFR1,downstream_gene_variant,,ENST00000484370,;FGFR1,downstream_gene_variant,,ENST00000496296,;FGFR1,upstream_gene_variant,,ENST00000524528,;FGFR1,upstream_gene_variant,,ENST00000527114,;FGFR1,upstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000532386,;FGFR1,upstream_gene_variant,,ENST00000533619,; A ENSG00000077782 ENST00000425967 Transcript missense_variant 1411/5375 1088/2562 363/853 S/F tCc/tTc CM070126,COSM3779206,COSM3779207,COSM3779208,COSM3779209 1 -1 FGFR1 HGNC HGNC:3688 protein_coding YES CCDS55223.1 ENSP00000393312 P11362 UPI0001CE06A3 NM_001174067.1 deleterious(0) possibly_damaging(0.894) 9/19 Gene3D:2.60.40.10,Pfam_domain:PF07679,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05858 0,1,1,1,1 MODERATE 1 SNV 1 1,1,1,1,1 1 PASS GGA . . 38421883 NCOA2 . GRCh38 chr8 70124868 70124869 + Splice_Region INS - - A novel 7316-77 BS_RKNNAG23 - - c.3917-4dup ENST00000452400 78 54 12 31 28 0 NCOA2,splice_region_variant,,ENST00000452400,NM_001321712.1,NM_001321707.1,NM_006540.3,NM_001321713.1,NM_001321703.1,NM_001321711.1;NCOA2,splice_region_variant,,ENST00000518363,;NCOA2,splice_region_variant,,ENST00000518287,;NCOA2,downstream_gene_variant,,ENST00000521239,; A ENSG00000140396 ENST00000452400 Transcript splice_region_variant,intron_variant 1 -1 NCOA2 HGNC HGNC:7669 protein_coding YES CCDS47872.1 ENSP00000399968 Q15596 UPI000012FE42 NM_001321712.1,NM_001321707.1,NM_006540.3,NM_001321713.1,NM_001321703.1,NM_001321711.1 19/22 LOW 1 insertion 1 1 PASS TTA . . 70124868 DEAF1 . GRCh38 chr11 694956 694997 + In_Frame_Del DEL GCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACCGCC GCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACCGCC - rs758496577 7316-77 BS_RKNNAG23 GCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACCGCC GCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACCGCC c.51_92del p.Val19_Ala32del p.V19_A32del ENST00000382409 1/12 100 94 6 47 47 0 DEAF1,inframe_deletion,p.Val19_Ala32del,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; - ENSG00000177030 ENST00000382409 Transcript inframe_deletion 536-577/2500 51-92/1698 17-31/565 AAVAAAAAVAAAAAA/A gcGGCGGTGGCGGCCGCGGCCGCTGTGGCGGCGGCGGCCGCGGCc/gcc rs758496577,COSM4949458 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix 0,1 MODERATE 1 deletion 1 0,1 1 PASS CGGCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACCGCCG . . 0.002222 0.009371 0.0003589 0.119 0.0004156 0.001765 0.001206 694955 NPIPB3 . GRCh38 chr16 21404957 21404957 + Missense_Mutation SNP G G C rs385881 7316-77 BS_RKNNAG23 G G c.331C>G p.Leu111Val p.L111V ENST00000542817 1/2 64 51 11 26 24 0 NPIPB3,missense_variant,p.Leu111Val,ENST00000542817,;NPIPB3,missense_variant,p.Leu327Val,ENST00000504841,NM_130464.2;NPIPB3,downstream_gene_variant,,ENST00000419180,;NPIPB3,downstream_gene_variant,,ENST00000448012,;NPIPB3,downstream_gene_variant,,ENST00000542953,;AC008740.2,downstream_gene_variant,,ENST00000617918,; C ENSG00000169246 ENST00000542817 Transcript missense_variant 363/1342 331/1263 111/420 L/V Ctg/Gtg rs385881 1 -1 NPIPB3 HGNC HGNC:28989 protein_coding YES ENSP00000444096 Q92617 UPI0000213DAE tolerated(0.16) benign(0.013) 1/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15438:SF5,hmmpanther:PTHR15438:SF5,hmmpanther:PTHR15438,hmmpanther:PTHR15438 MODERATE 1 SNV 5 PASS AGA . . 0.001609 0.0004921 0.0002137 0.0001671 9.522e-05 0.0001613 0.003214 0.0009369 0.0003851 21404957 ANKRD12 . GRCh38 chr18 9255908 9255908 + Missense_Mutation SNP T T A novel 7316-77 BS_RKNNAG23 T T c.2641T>A p.Cys881Ser p.C881S ENST00000262126 9/13 87 77 8 46 45 0 ANKRD12,missense_variant,p.Cys881Ser,ENST00000262126,NM_015208.4;ANKRD12,missense_variant,p.Cys858Ser,ENST00000400020,NM_001204056.1,NM_001083625.2;ANKRD12,downstream_gene_variant,,ENST00000546007,;AP001033.2,upstream_gene_variant,,ENST00000609701,;AP005263.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,3_prime_UTR_variant,,ENST00000359158,; A ENSG00000101745 ENST00000262126 Transcript missense_variant 2881/11288 2641/6189 881/2062 C/S Tgc/Agc 1 1 ANKRD12 HGNC HGNC:29135 protein_coding YES CCDS11843.1 ENSP00000262126 Q6UB98 UPI0000073327 NM_015208.4 tolerated_low_confidence(0.2) benign(0.015) 9/13 hmmpanther:PTHR24149,hmmpanther:PTHR24149:SF7,mobidb-lite MODERATE 1 SNV 1 PASS ATG . . 9255908 ZNF90 . GRCh38 chr19 20118993 20118993 + Missense_Mutation SNP T T C rs782782063 7316-77 BS_RKNNAG23 T T c.1439T>C p.Leu480Pro p.L480P ENST00000418063 4/4 89 61 21 53 47 3 ZNF90,missense_variant,p.Leu480Pro,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; C ENSG00000213988 ENST00000418063 Transcript missense_variant 1551/2310 1439/1806 480/601 L/P cTc/cCc rs782782063 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CTC . . 4.336e-06 9.595e-06 20118993 IVL . GRCh38 chr1 152910411 152910411 + Missense_Mutation SNP T T A rs1297539794 7316-470 BS_AEJZG4A3 T T c.614T>A p.Leu205His p.L205H ENST00000368764 2/2 60 42 9 26 23 0 IVL,missense_variant,p.Leu205His,ENST00000368764,NM_005547.2; A ENSG00000163207 ENST00000368764 Transcript missense_variant 678/2153 614/1758 205/585 L/H cTc/cAc rs1297539794,COSM5438244 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated(0.6) benign(0) 2/2 Pfam_domain:PF00904,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 2 0,1 PASS CTC . . 0.01338 0.04343 0.03443 0.02222 0.01833 0.0003911 0.01658 0.02273 0.03799 152910411 RXFP4 . GRCh38 chr1 155941798 155941798 + Missense_Mutation SNP C C T rs142076460 7316-470 BS_AEJZG4A3 C C c.89C>T p.Pro30Leu p.P30L ENST00000368318 1/1 63 58 5 46 46 0 RXFP4,missense_variant,p.Pro30Leu,ENST00000368318,NM_181885.2;,regulatory_region_variant,,ENSR00000014123,; T ENSG00000173080 ENST00000368318 Transcript missense_variant 89/1240 89/1125 30/374 P/L cCg/cTg rs142076460 1 1 RXFP4 HGNC HGNC:14666 protein_coding YES CCDS1124.1 ENSP00000357301 Q8TDU9 UPI0000048F6E NM_181885.2 tolerated(0.14) benign(0) 1/1 hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF32,Superfamily_domains:SSF81321 0.0008 0.004 0.0004539 0.002442 MODERATE 1 SNV PASS CCG . . 0.00132 6.534e-05 0.001251 0.008528 5.798e-05 0.00137 0.004012 0.0007147 155941798 CFHR1 . GRCh38 chr1 196828114 196828114 + Missense_Mutation SNP C C G rs410232 7316-470 BS_AEJZG4A3 C C c.475C>G p.Leu159Val p.L159V ENST00000320493 4/6 56 41 15 37 34 2 CFHR1,missense_variant,p.Leu159Val,ENST00000320493,NM_002113.2;BX248415.1,intron_variant,,ENST00000367421,;CFHR1,intron_variant,,ENST00000367424,;CFHR1,non_coding_transcript_exon_variant,,ENST00000480960,;CFHR1,downstream_gene_variant,,ENST00000468079,;,regulatory_region_variant,,ENSR00000017621,;,regulatory_region_variant,,ENSR00000256022,; G ENSG00000244414 ENST00000320493 Transcript missense_variant 563/1271 475/993 159/330 L/V Ctg/Gtg rs410232,COSM3930563 1 1 CFHR1 HGNC HGNC:4888 protein_coding YES CCDS1386.1 ENSP00000314299 Q03591 UPI000013CCFE NM_002113.2 tolerated(0.8) benign(0) 4/6 Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF488,SMART_domains:SM00032,Superfamily_domains:SSF57535,cd00033 0.4201 0.2314 0,1 MODERATE 1 SNV 1 0,1 1 PASS ACT . . 0.2323 0.4142 0.3091 0.292 0.384 0.1519 0.1806 0.2534 0.2066 196828114 LMOD1 . GRCh38 chr1 201900431 201900431 + Missense_Mutation SNP A A C novel 7316-470 BS_AEJZG4A3 A A c.582T>G p.Ser194Arg p.S194R ENST00000367288 2/3 63 52 10 46 43 0 LMOD1,missense_variant,p.Ser194Arg,ENST00000367288,NM_012134.2;LMOD1,missense_variant,p.Ser166Arg,ENST00000616739,;AL513217.1,downstream_gene_variant,,ENST00000414927,;AL513217.1,downstream_gene_variant,,ENST00000458139,; C ENSG00000163431 ENST00000367288 Transcript missense_variant 829/3970 582/1803 194/600 S/R agT/agG 1 -1 LMOD1 HGNC HGNC:6647 protein_coding YES CCDS53457.1 ENSP00000356257 P29536 UPI00003665F4 NM_012134.2 tolerated(0.22) benign(0.001) 2/3 hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF5,mobidb-lite MODERATE 1 SNV 1 1 PASS CAC . . 201900431 MUC4 . GRCh38 chr3 195782206 195782206 + Missense_Mutation SNP T T C rs780347259 7316-470 BS_AEJZG4A3 T T c.9374A>G p.Asp3125Gly p.D3125G ENST00000463781 2/25 61 39 18 28 27 0 MUC4,missense_variant,p.Asp3125Gly,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Asp3125Gly,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Asp3125Gly,ENST00000478156,;MUC4,missense_variant,p.Asp3125Gly,ENST00000466475,;MUC4,missense_variant,p.Asp3125Gly,ENST00000477756,;MUC4,missense_variant,p.Asp3125Gly,ENST00000477086,;MUC4,missense_variant,p.Asp3125Gly,ENST00000480843,;MUC4,missense_variant,p.Asp3125Gly,ENST00000462323,;MUC4,missense_variant,p.Asp3125Gly,ENST00000470451,;MUC4,missense_variant,p.Asp3125Gly,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 9834/17110 9374/16239 3125/5412 D/G gAc/gGc rs780347259,COSM3927792 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.93) possibly_damaging(0.55) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GTC . . 1.375e-05 8.86e-05 195782206 MUC4 . GRCh38 chr3 195782207 195782207 + Missense_Mutation SNP C C T rs371017154 7316-470 BS_AEJZG4A3 C C c.9373G>A p.Asp3125Asn p.D3125N ENST00000463781 2/25 61 41 17 27 26 0 MUC4,missense_variant,p.Asp3125Asn,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Asp3125Asn,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Asp3125Asn,ENST00000478156,;MUC4,missense_variant,p.Asp3125Asn,ENST00000466475,;MUC4,missense_variant,p.Asp3125Asn,ENST00000477756,;MUC4,missense_variant,p.Asp3125Asn,ENST00000477086,;MUC4,missense_variant,p.Asp3125Asn,ENST00000480843,;MUC4,missense_variant,p.Asp3125Asn,ENST00000462323,;MUC4,missense_variant,p.Asp3125Asn,ENST00000470451,;MUC4,missense_variant,p.Asp3125Asn,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 9833/17110 9373/16239 3125/5412 D/N Gac/Aac rs371017154,COSM3927794 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(1) possibly_damaging(0.55) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TCG . . 3.505e-05 0.0002932 0.0001275 9.029e-05 195782207 CHD8 . GRCh38 chr14 21427862 21427862 + Splice_Region SNP T T C rs1275939341 7316-470 BS_AEJZG4A3 T T c.1601+7A>G ENST00000646647 110 94 12 39 38 0 CHD8,splice_region_variant,,ENST00000399982,NM_001170629.1;CHD8,splice_region_variant,,ENST00000430710,NM_020920.3;CHD8,splice_region_variant,,ENST00000557364,;CHD8,splice_region_variant,,ENST00000642518,;CHD8,splice_region_variant,,ENST00000643469,;CHD8,splice_region_variant,,ENST00000645140,;CHD8,splice_region_variant,,ENST00000645929,;CHD8,splice_region_variant,,ENST00000646063,;CHD8,splice_region_variant,,ENST00000646340,;CHD8,splice_region_variant,,ENST00000646647,;CHD8,downstream_gene_variant,,ENST00000553283,;CHD8,downstream_gene_variant,,ENST00000553622,;RN7SL650P,downstream_gene_variant,,ENST00000619902,;CHD8,downstream_gene_variant,,ENST00000556833,;CHD8,splice_region_variant,,ENST00000643048,;CHD8,splice_region_variant,,ENST00000645206,;CHD8,non_coding_transcript_exon_variant,,ENST00000553651,;CHD8,intron_variant,,ENST00000555962,; C ENSG00000100888 ENST00000646647 Transcript splice_region_variant,intron_variant rs1275939341 1 -1 CHD8 HGNC HGNC:20153 protein_coding YES CCDS53885.1 ENSP00000495240 UPI00002375B9 4/37 LOW 1 SNV 1 PASS GTA . . 21427862 DICER1 . GRCh38 chr14 95116699 95116699 + Splice_Region DEL A A - rs746837277 7316-470 BS_AEJZG4A3 A A c.1510-4del ENST00000526495 87 77 6 38 34 0 DICER1,splice_region_variant,,ENST00000343455,NM_177438.2;DICER1,splice_region_variant,,ENST00000393063,;DICER1,splice_region_variant,,ENST00000526495,NM_001291628.1,NM_030621.4;DICER1,splice_region_variant,,ENST00000527414,NM_001271282.2;DICER1,splice_region_variant,,ENST00000541352,NM_001195573.1;DICER1,intron_variant,,ENST00000532458,; - ENSG00000100697 ENST00000526495 Transcript splice_region_variant,intron_variant rs746837277,TMP_ESP_14_95583036_95583036,COSM1180812 1 -1 DICER1 HGNC HGNC:17098 protein_coding YES CCDS9931.1 ENSP00000437256 Q9UPY3 UPI0000168662 NM_001291628.1,NM_030621.4 11/28 0.01504 0.008244 benign,likely_benign 0,0,1 LOW 1 deletion 5 1,0,1 1 PASS TGAA . . 0.001679 0.0003657 0.001152 0.008548 0.0006199 0.0007537 0.001513 0.001779 0.002643 95116698 GOLGA8A . GRCh38 chr15 34386710 34386710 + Missense_Mutation SNP C C G rs147828722 7316-470 BS_AEJZG4A3 C C c.200G>C p.Arg67Pro p.R67P ENST00000359187 3/16 43 35 8 26 25 0 GOLGA8A,missense_variant,p.Arg95Pro,ENST00000432566,;GOLGA8A,missense_variant,p.Arg67Pro,ENST00000359187,NM_181077.3;MIR1233-1,upstream_gene_variant,,ENST00000408722,;GOLGA8A,non_coding_transcript_exon_variant,,ENST00000473125,; G ENSG00000175265 ENST00000359187 Transcript missense_variant 265/1877 200/1812 67/603 R/P cGt/cCt rs147828722,COSM4148674,COSM4148673 1 -1 GOLGA8A HGNC HGNC:31972 protein_coding YES CCDS10038.1 ENSP00000352111 A7E2F4 UPI000019C425 NM_181077.3 tolerated(0.17) benign(0.001) 3/16 Gene3D:1.20.5.50,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF7,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ACG . . 0.2332 0.2855 0.3897 0.353 0.2263 0.2425 0.1644 0.2783 0.2504 34386710 SPANXC . GRCh38 chrX 141241609 141241609 + Missense_Mutation SNP C C G rs3208371 7316-470 BS_AEJZG4A3 C C c.202G>C p.Val68Leu p.V68L ENST00000358993 2/2 41 34 6 24 24 0 SPANXC,missense_variant,p.Val68Leu,ENST00000358993,NM_022661.3; G ENSG00000198573 ENST00000358993 Transcript missense_variant 241/387 202/294 68/97 V/L Gtg/Ctg rs3208371 1 -1 SPANXC HGNC HGNC:14331 protein_coding YES CCDS14673.1 ENSP00000351884 Q9NY87 UPI0000071E21 NM_022661.3 tolerated_low_confidence(0.63) benign(0.001) 2/2 hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF16,Pfam_domain:PF07458 MODERATE 1 SNV 1 PASS ACC . . 141241609 SLC35E2A . GRCh38 chr1 1734736 1734736 + Missense_Mutation SNP C C T rs61777509 7316-932 BS_QMDRA3VT C C c.686G>A p.Arg229His p.R229H ENST00000643905 5/6 47 39 7 36 35 0 SLC35E2A,missense_variant,p.Arg229His,ENST00000643905,NM_182838.2;SLC35E2A,missense_variant,p.Arg229His,ENST00000355439,NM_001199787.1;AL031282.2,non_coding_transcript_exon_variant,,ENST00000598846,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000647043,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000246421,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000475229,;AL031282.1,intron_variant,,ENST00000424604,;AL031282.1,intron_variant,,ENST00000577672,;AL031282.1,downstream_gene_variant,,ENST00000417099,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000643943,;AL031282.1,upstream_gene_variant,,ENST00000418950,; T ENSG00000215790 ENST00000643905 Transcript missense_variant 1109/6293 686/801 229/266 R/H cGt/cAt rs61777509,COSM4142977 1 -1 SLC35E2A HGNC HGNC:20863 protein_coding YES CCDS33.1 ENSP00000495949 UPI000006FA83 NM_182838.2 tolerated_low_confidence(0.23) possibly_damaging(0.477) 5/6 mobidb-lite,hmmpanther:PTHR44413,hmmpanther:PTHR44413:SF1 0,1 MODERATE SNV 0,1 PASS ACG . . 0.3075 0.08801 0.2931 0.3425 0.1221 0.4248 0.3581 0.3075 0.2544 1734736 PRAMEF1 . GRCh38 chr1 12795841 12795841 + Missense_Mutation SNP C C G rs199886880 7316-932 BS_QMDRA3VT C C c.1270C>G p.Arg424Gly p.R424G ENST00000332296 4/4 80 62 16 28 27 0 PRAMEF1,missense_variant,p.Arg424Gly,ENST00000332296,NM_023013.4;PRAMEF1,non_coding_transcript_exon_variant,,ENST00000400814,NM_001294139.1; G ENSG00000116721 ENST00000332296 Transcript missense_variant 1373/2160 1270/1425 424/474 R/G Cgt/Ggt rs199886880,COSM6302950,COSM6302949,COSM6302948 1 1 PRAMEF1 HGNC HGNC:28840 protein_coding YES CCDS148.1 ENSP00000332134 O95521 UPI0004620BB8 NM_023013.4 tolerated(0.4) benign(0) 4/4 PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2,Superfamily_domains:SSF52047 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS TCG . . 4.933e-05 5.971e-05 5.82e-05 3.635e-05 0.0001635 12795841 PRAMEF1 . GRCh38 chr1 12795847 12795847 + Missense_Mutation SNP A A G rs138590692 7316-932 BS_QMDRA3VT A A c.1276A>G p.Asn426Asp p.N426D ENST00000332296 4/4 80 63 15 27 26 0 PRAMEF1,missense_variant,p.Asn426Asp,ENST00000332296,NM_023013.4;PRAMEF1,non_coding_transcript_exon_variant,,ENST00000400814,NM_001294139.1; G ENSG00000116721 ENST00000332296 Transcript missense_variant 1379/2160 1276/1425 426/474 N/D Aat/Gat rs138590692,COSM6302848,COSM6302847,COSM6302846 1 1 PRAMEF1 HGNC HGNC:28840 protein_coding YES CCDS148.1 ENSP00000332134 O95521 UPI0004620BB8 NM_023013.4 tolerated(0.24) benign(0) 4/4 PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2 0.0038 0.0008 0.0014 0.004 0.007 0.0061 0.0002271 0.001281 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS CAA . . 0.002313 0.0008183 0.002391 0.003523 5.817e-05 0.00106 0.003307 0.003515 0.000949 12795847 HORMAD1 . GRCh38 chr1 150714124 150714124 + Splice_Region DEL A A - rs199847530 7316-932 BS_QMDRA3VT A A c.243-3del ENST00000361824 61 52 5 43 43 0 HORMAD1,splice_region_variant,,ENST00000322343,NM_001199829.1;HORMAD1,splice_region_variant,,ENST00000361824,NM_032132.4;HORMAD1,splice_region_variant,,ENST00000368987,;HORMAD1,splice_region_variant,,ENST00000368995,;HORMAD1,splice_region_variant,,ENST00000442853,;HORMAD1,splice_region_variant,,ENST00000476530,; - ENSG00000143452 ENST00000361824 Transcript splice_region_variant,intron_variant rs199847530,COSM253006 1 -1 HORMAD1 HGNC HGNC:25245 protein_coding YES CCDS967.1 ENSP00000355167 Q86X24 A0A140VKG9 UPI000000DBE5 NM_032132.4 4/14 0.0142 0.0045 0.0565 0.0082 0.009948 0.007097 0,1 LOW 1 deletion 1 0,1 PASS CTAA . . 0.01012 0.006814 0.01324 0.00769 0.07505 0.001372 0.003502 0.0113 0.01061 150714123 OAZ3 . GRCh38 chr1 151767267 151767267 + Missense_Mutation SNP G G T novel 7316-932 BS_QMDRA3VT G G c.271G>T p.Gly91Cys p.G91C ENST00000400999 3/6 62 46 14 40 40 0 OAZ3,missense_variant,p.Gly91Cys,ENST00000479764,;OAZ3,missense_variant,p.Gly91Cys,ENST00000400999,NM_016178.2;OAZ3,missense_variant,p.Gly46Cys,ENST00000321531,NM_001134939.1;OAZ3,missense_variant,p.Gly46Cys,ENST00000627780,;OAZ3,missense_variant,p.Gly46Cys,ENST00000635322,;OAZ3,missense_variant,p.Gly59Cys,ENST00000453029,NM_001301371.1;OAZ3,missense_variant,p.Gly91Cys,ENST00000639906,;OAZ3,missense_variant,p.Gly25Cys,ENST00000635374,;OAZ3,missense_variant,p.Gly8Cys,ENST00000582415,;TDRKH,downstream_gene_variant,,ENST00000368827,NM_006862.3;MRPL9,upstream_gene_variant,,ENST00000368829,NM_001300733.1;MRPL9,upstream_gene_variant,,ENST00000368830,NM_031420.3;TDRKH,downstream_gene_variant,,ENST00000440583,;MRPL9,upstream_gene_variant,,ENST00000481777,;AL589765.4,intron_variant,,ENST00000512280,;AL589765.2,downstream_gene_variant,,ENST00000420382,;AL589765.5,upstream_gene_variant,,ENST00000596133,;OAZ3,non_coding_transcript_exon_variant,,ENST00000577465,;OAZ3,non_coding_transcript_exon_variant,,ENST00000635179,;MRPL9,upstream_gene_variant,,ENST00000461182,;MRPL9,upstream_gene_variant,,ENST00000462783,;MRPL9,upstream_gene_variant,,ENST00000467306,;MRPL9,upstream_gene_variant,,ENST00000478926,;MRPL9,upstream_gene_variant,,ENST00000486707,;MRPL9,upstream_gene_variant,,ENST00000492684,;TDRKH,downstream_gene_variant,,ENST00000525790,; T ENSG00000143450 ENST00000400999 Transcript missense_variant 338/890 271/708 91/235 G/C Ggt/Tgt 1 1 OAZ3 HGNC HGNC:8097 protein_coding YES CCDS81378.1 ENSP00000383784 A8MW57 UPI000719A14B NM_016178.2 deleterious(0.02) possibly_damaging(0.794) 3/6 hmmpanther:PTHR10279,hmmpanther:PTHR10279:SF9 MODERATE SNV 5 PASS GGG . . 151767267 AC092809.2 . GRCh38 chr1 224209015 224209016 + Splice_Region INS - - AAAT rs1378737951 7316-932 BS_QMDRA3VT - - n.526-8_526-5dup ENST00000436706 75 29 17 36 28 0 AC092809.2,splice_region_variant,,ENST00000436706,;AC092809.2,splice_region_variant,,ENST00000453760,; AAAT ENSG00000232628 ENST00000436706 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1378737951 1 -1 AC092809.2 Clone_based_ensembl_gene sense_intronic YES 1/1 LOW 1 insertion 1 PASS AAA . . 224209015 OR2T4 . GRCh38 chr1 248361833 248361833 + Missense_Mutation SNP G G A rs76721536 7316-932 BS_QMDRA3VT G G c.253G>A p.Ala85Thr p.A85T ENST00000366475 1/1 80 68 8 43 42 0 OR2T4,missense_variant,p.Ala85Thr,ENST00000366475,NM_001004696.1;OR2T4,missense_variant,p.Ala57Thr,ENST00000366473,; A ENSG00000196944 ENST00000366475 Transcript missense_variant 253/1047 253/1047 85/348 A/T Gcc/Acc rs76721536,COSM3746176 1 1 OR2T4 HGNC HGNC:15016 protein_coding YES CCDS31113.1 ENSP00000355431 Q8NH00 UPI000004B9CC NM_001004696.1 tolerated(0.49) benign(0.001) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF316,Superfamily_domains:SSF81321,cd15421 0.3083 0.3374 0.2392 0.3819 0.2207 0.3323 0,1 MODERATE 1 SNV 0,1 PASS CGC . . 0.1497 0.2123 0.1406 0.09894 0.2592 0.1989 0.1239 0.1059 0.1728 248361833 OR2T4 . GRCh38 chr1 248361836 248361836 + Missense_Mutation SNP C C T rs75096121 7316-932 BS_QMDRA3VT C C c.256C>T p.His86Tyr p.H86Y ENST00000366475 1/1 80 67 9 42 41 0 OR2T4,missense_variant,p.His86Tyr,ENST00000366475,NM_001004696.1;OR2T4,missense_variant,p.His58Tyr,ENST00000366473,; T ENSG00000196944 ENST00000366475 Transcript missense_variant 256/1047 256/1047 86/348 H/Y Cac/Tac rs75096121,COSM3746177 1 1 OR2T4 HGNC HGNC:15016 protein_coding YES CCDS31113.1 ENSP00000355431 Q8NH00 UPI000004B9CC NM_001004696.1 deleterious(0.03) benign(0.022) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF316,Superfamily_domains:SSF81321,cd15421 0.3075 0.3343 0.2392 0.3819 0.2207 0.3323 0,1 MODERATE 1 SNV 0,1 PASS CCA . . 0.1544 0.207 0.1462 0.105 0.2631 0.2036 0.1291 0.1109 0.1775 248361836 HS6ST1 . GRCh38 chr2 128268653 128268653 + Missense_Mutation SNP G G T rs3958533 7316-932 BS_QMDRA3VT G G c.745C>A p.Arg249Ser p.R249S ENST00000259241 2/2 60 49 10 48 48 0 HS6ST1,missense_variant,p.Arg249Ser,ENST00000259241,NM_004807.2;HS6ST1,intron_variant,,ENST00000469019,;HS6ST1,downstream_gene_variant,,ENST00000463963,; T ENSG00000136720 ENST00000259241 Transcript missense_variant 759/3932 745/1236 249/411 R/S Cgc/Agc rs3958533,COSM228870 1 -1 HS6ST1 HGNC HGNC:5201 protein_coding YES CCDS42748.1 ENSP00000259241 O60243 UPI0000D61231 NM_004807.2 deleterious(0) probably_damaging(0.995) 2/2 Gene3D:3.40.50.300,Pfam_domain:PF03567,hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF1,Superfamily_domains:SSF52540 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGG . . 0.1439 0.05174 0.07216 0.05941 0.1221 0.3278 0.1951 0.1123 0.03794 128268653 SPON2 . GRCh38 chr4 1170530 1170530 + Missense_Mutation SNP G G C 7316-932 BS_QMDRA3VT G G c.683C>G p.Pro228Arg p.P228R ENST00000617421 7/8 66 58 8 45 44 0 SPON2,missense_variant,p.Pro228Arg,ENST00000617421,NM_001199021.1;SPON2,missense_variant,p.Pro228Arg,ENST00000290902,NM_012445.3;SPON2,missense_variant,p.Pro228Arg,ENST00000431380,NM_001128325.2;SPON2,downstream_gene_variant,,ENST00000502483,;SPON2,downstream_gene_variant,,ENST00000503765,;SPON2,downstream_gene_variant,,ENST00000509233,;SPON2,downstream_gene_variant,,ENST00000511672,;SPON2,downstream_gene_variant,,ENST00000511679,;SPON2,downstream_gene_variant,,ENST00000514490,;SPON2,downstream_gene_variant,,ENST00000515004,;AC092535.4,downstream_gene_variant,,ENST00000609548,;SPON2,downstream_gene_variant,,ENST00000504871,;SPON2,downstream_gene_variant,,ENST00000506266,;SPON2,non_coding_transcript_exon_variant,,ENST00000509697,;SPON2,downstream_gene_variant,,ENST00000504909,;SPON2,downstream_gene_variant,,ENST00000507466,;SPON2,downstream_gene_variant,,ENST00000512150,;SPON2,downstream_gene_variant,,ENST00000512888,; C ENSG00000159674 ENST00000617421 Transcript missense_variant 1308/2156 683/996 228/331 P/R cCg/cGg COSM5736873 1 -1 SPON2 HGNC HGNC:11253 protein_coding YES CCDS3347.1 ENSP00000483599 Q9BUD6 UPI000004F20E NM_001199021.1 deleterious(0) probably_damaging(1) 7/8 Pfam_domain:PF06468,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF9 1 MODERATE 1 SNV 5 1 PASS CGG . . 1170530 MUC21 . GRCh38 chr6 30987266 30987266 + Missense_Mutation SNP G G A rs9262385 7316-932 BS_QMDRA3VT G G c.1091G>A p.Gly364Glu p.G364E ENST00000376296 2/3 43 25 10 25 23 0 MUC21,missense_variant,p.Gly364Glu,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,; A ENSG00000204544 ENST00000376296 Transcript missense_variant 1332/3651 1091/1701 364/566 G/E gGg/gAg rs9262385,COSM1286362 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 tolerated(0.77) benign(0.006) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR39408,Pfam_domain:PF05647 0.0212 0.0197 0.0576 0.0079 0.0179 0.0143 0.0057 0.005365 0,1 MODERATE 1 SNV 1 0,1 PASS GGG . . 0.004048 0.009245 0.006658 0.002492 0.008664 0.001144 0.003419 0.004569 0.002764 30987266 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-932 BS_QMDRA3VT A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 88 46 42 31 31 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 GSR . GRCh38 chr8 30703225 30703225 + Missense_Mutation SNP T T C novel 7316-932 BS_QMDRA3VT T T c.508A>G p.Ile170Val p.I170V ENST00000221130 5/13 55 43 10 45 45 0 GSR,missense_variant,p.Ile170Val,ENST00000221130,NM_000637.3;GSR,missense_variant,p.Ile170Val,ENST00000546342,NM_001195102.1;GSR,missense_variant,p.Ile170Val,ENST00000541648,NM_001195103.1;GSR,missense_variant,p.Ile170Val,ENST00000537535,NM_001195104.1;GSR,non_coding_transcript_exon_variant,,ENST00000643525,;GSR,non_coding_transcript_exon_variant,,ENST00000521479,;GSR,3_prime_UTR_variant,,ENST00000643653,;GSR,intron_variant,,ENST00000523295,; C ENSG00000104687 ENST00000221130 Transcript missense_variant 672/3192 508/1569 170/522 I/V Atc/Gtc 1 -1 GSR HGNC HGNC:4623 protein_coding YES CCDS34877.1 ENSP00000221130 P00390 V9HW90 UPI000012BBFF NM_000637.3 tolerated(0.15) possibly_damaging(0.546) 5/13 Gene3D:3.50.50.60,Pfam_domain:PF07992,PIRSF_domain:PIRSF000350,hmmpanther:PTHR42737,hmmpanther:PTHR42737:SF2,Superfamily_domains:SSF51905,TIGRFAM_domain:TIGR01421 MODERATE 1 SNV 1 1 PASS ATG . . 30703225 ANKRD18A . GRCh38 chr9 38596312 38596312 + Missense_Mutation SNP G G A 7316-932 BS_QMDRA3VT G G c.1028C>T p.Ala343Val p.A343V ENST00000399703 9/16 70 64 6 47 47 0 ANKRD18A,missense_variant,p.Ala343Val,ENST00000399703,NM_147195.2;ANKRD18A,upstream_gene_variant,,ENST00000602295,;ANKRD18A,downstream_gene_variant,,ENST00000475234,; A ENSG00000180071 ENST00000399703 Transcript missense_variant 1403/4041 1028/2979 343/992 A/V gCa/gTa COSM1109142 1 -1 ANKRD18A HGNC HGNC:23643 protein_coding YES CCDS55311.1 ENSP00000382610 Q8IVF6 UPI00001AF4AF NM_147195.2 tolerated(0.15) benign(0.036) 9/16 hmmpanther:PTHR24147:SF34,hmmpanther:PTHR24147,Pfam_domain:PF14915,Gene3D:1.10.287.620 1 MODERATE 1 SNV 1 1 PASS TGC . . 38596312 GOLGA6L2 . GRCh38 chr15 23440478 23440478 + Missense_Mutation SNP T T C rs372736971 7316-932 BS_QMDRA3VT T T c.1997A>G p.Glu666Gly p.E666G ENST00000567107 8/8 80 48 16 35 28 0 GOLGA6L2,missense_variant,p.Glu666Gly,ENST00000567107,NM_001304388.1;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,intron_variant,,ENST00000345070,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; C ENSG00000174450 ENST00000567107 Transcript missense_variant 2050/3030 1997/2730 666/909 E/G gAa/gGa rs372736971,COSM3815753,COSM3815752 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 deleterious_low_confidence(0) unknown(0) 8/8 Low_complexity_(Seg):seg,mobidb-lite 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TTC . . 23440478 GOLGA6L7 . GRCh38 chr15 28843167 28843167 + Missense_Mutation SNP T T C rs1443691590 7316-932 BS_QMDRA3VT T T c.937A>G p.Met313Val p.M313V ENST00000567390 9/9 74 56 11 49 42 0 GOLGA6L7,missense_variant,p.Met313Val,ENST00000567390,;PDCD6IPP2,intron_variant,,ENST00000564604,;PDCD6IPP2,intron_variant,,ENST00000566178,;PDCD6IPP2,downstream_gene_variant,,ENST00000563144,;GOLGA6L7,downstream_gene_variant,,ENST00000569815,; C ENSG00000261649 ENST00000567390 Transcript missense_variant 1063/2397 937/1869 313/622 M/V Atg/Gtg rs1443691590 1 -1 GOLGA6L7 HGNC HGNC:37442 protein_coding YES ENSP00000490318 A0A1B0GV03 UPI0007E52AB8 deleterious(0.04) unknown(0) 9/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATC . . 28843167 KRTAP4-16 . GRCh38 chr17 41101746 41101746 + Missense_Mutation SNP T T G rs1215386394 7316-932 BS_QMDRA3VT T T c.464A>C p.His155Pro p.H155P ENST00000440582 1/1 71 50 16 29 25 1 KRTAP4-16,missense_variant,p.His155Pro,ENST00000440582,;KRTAP4-8,upstream_gene_variant,,ENST00000318329,;KRTAP4-8,upstream_gene_variant,,ENST00000333822,NM_031960.2;KRTAP4-9,upstream_gene_variant,,ENST00000391415,NM_001146041.1;KRTAP4-9,upstream_gene_variant,,ENST00000617453,; G ENSG00000241241 ENST00000440582 Transcript missense_variant 464/708 464/708 155/235 H/P cAc/cCc rs1215386394 1 -1 KRTAP4-16 HGNC HGNC:18921 protein_coding YES ENSP00000411198 G5E9R7 UPI0000E59F68 deleterious(0) unknown(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF37 MODERATE 1 SNV PASS GTG . . 2.656e-05 9.984e-05 3.454e-05 4.383e-05 41101746 ZNF491 . GRCh38 chr19 11806075 11806075 + Missense_Mutation SNP C C A novel 7316-932 BS_QMDRA3VT C C c.122C>A p.Thr41Lys p.T41K ENST00000323169 3/3 67 59 7 40 40 0 ZNF491,missense_variant,p.Thr41Lys,ENST00000323169,NM_152356.3;ZNF491,missense_variant,p.Thr41Lys,ENST00000450087,;ZNF491,intron_variant,,ENST00000492230,; A ENSG00000177599 ENST00000323169 Transcript missense_variant 453/2471 122/1314 41/437 T/K aCa/aAa 1 1 ZNF491 HGNC HGNC:23706 protein_coding YES CCDS12267.1 ENSP00000313443 Q8N8L2 UPI000006D12C NM_152356.3 tolerated(0.22) benign(0.122) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF674,Gene3D:3.30.160.60 MODERATE 1 SNV 3 PASS ACA . . 11806075 ZNF737 . GRCh38 chr19 20545230 20545230 + Missense_Mutation SNP G G A novel 7316-932 BS_QMDRA3VT G G c.973C>T p.Pro325Ser p.P325S ENST00000427401 4/4 73 64 6 33 32 0 ZNF737,missense_variant,p.Pro325Ser,ENST00000427401,NM_001159293.1;ZNF737,downstream_gene_variant,,ENST00000594419,;ZNF737,upstream_gene_variant,,ENST00000596530,;ZNF737,downstream_gene_variant,,ENST00000597940,; A ENSG00000237440 ENST00000427401 Transcript missense_variant 1068/2867 973/1611 325/536 P/S Ccc/Tcc 1 -1 ZNF737 HGNC HGNC:32468 protein_coding YES CCDS54238.1 ENSP00000395733 O75373 UPI0000198506 NM_001159293.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GGG . . 20545230 SLC8A2 . GRCh38 chr19 47432424 47432426 + In_Frame_Del DEL TCC TCC - rs779703451 7316-932 BS_QMDRA3VT TCC TCC c.2130_2132del p.Glu710del p.E710del ENST00000236877 9/10 74 64 5 49 44 0 SLC8A2,inframe_deletion,p.Glu710del,ENST00000236877,NM_015063.2;SLC8A2,inframe_deletion,p.Glu466del,ENST00000542837,;SLC8A2,non_coding_transcript_exon_variant,,ENST00000539381,;SLC8A2,non_coding_transcript_exon_variant,,ENST00000601757,;SLC8A2,non_coding_transcript_exon_variant,,ENST00000600576,; - ENSG00000118160 ENST00000236877 Transcript inframe_deletion 2526-2528/5234 2130-2132/2766 710-711/921 ED/D gaGGAc/gac rs779703451,COSM1266060 1 -1 SLC8A2 HGNC HGNC:11069 protein_coding YES CCDS33065.1 ENSP00000236877 Q9UPR5 UPI000012FC49 NM_015063.2 9/10 hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF8,TIGRFAM_domain:TIGR00845,Low_complexity_(Seg):seg 0,1 MODERATE 1 deletion 1 0,1 PASS CGTCCT . . 0.008081 0.0059 0.01028 0.01429 0.01233 0.007875 0.00599 0.01194 0.01036 47432423 ATAD3B . GRCh38 chr1 1495785 1495785 + Missense_Mutation SNP C C T rs9792879 7316-207 BS_KZCXH6EX C C c.1915C>T p.Pro639Ser p.P639S ENST00000308647 16/16 95 82 13 25 24 0 ATAD3B,missense_variant,p.Pro639Ser,ENST00000308647,NM_001317238.1,NM_031921.5;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000485748,; T ENSG00000160072 ENST00000308647 Transcript missense_variant 2031/2448 1915/1947 639/648 P/S Ccg/Tcg rs9792879,COSM226436 1 1 ATAD3B HGNC HGNC:24007 protein_coding YES CCDS30.1 ENSP00000311766 Q5T9A4 UPI000013E044 NM_001317238.1,NM_031921.5 tolerated_low_confidence(0.34) benign(0.001) 16/16 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 0.1787 0.3339 0.1321 0.07124 0.4117 0.2373 0.1309 0.1347 0.2306 1495785 LMOD1 . GRCh38 chr1 201900372 201900372 + Missense_Mutation SNP A A T novel 7316-207 BS_KZCXH6EX A A c.641T>A p.Val214Glu p.V214E ENST00000367288 2/3 68 57 5 23 21 0 LMOD1,missense_variant,p.Val214Glu,ENST00000367288,NM_012134.2;LMOD1,missense_variant,p.Val186Glu,ENST00000616739,;AL513217.1,downstream_gene_variant,,ENST00000414927,;AL513217.1,downstream_gene_variant,,ENST00000458139,; T ENSG00000163431 ENST00000367288 Transcript missense_variant 888/3970 641/1803 214/600 V/E gTg/gAg 1 -1 LMOD1 HGNC HGNC:6647 protein_coding YES CCDS53457.1 ENSP00000356257 P29536 UPI00003665F4 NM_012134.2 tolerated(0.91) benign(0) 2/3 hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF5,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAC . . 201900372 RAPGEF4 . GRCh38 chr2 173048631 173048631 + Missense_Mutation SNP G G C novel 7316-207 BS_KZCXH6EX G G c.2885G>C p.Arg962Thr p.R962T ENST00000397081 30/31 56 49 6 24 23 0 RAPGEF4,missense_variant,p.Arg962Thr,ENST00000397081,NM_007023.3;RAPGEF4,missense_variant,p.Arg818Thr,ENST00000397087,NM_001100397.1;RAPGEF4,missense_variant,p.Arg894Thr,ENST00000409036,;RAPGEF4,missense_variant,p.Arg809Thr,ENST00000540783,NM_001282899.1;RAPGEF4,missense_variant,p.Arg791Thr,ENST00000538974,NM_001282900.1;RAPGEF4,missense_variant,p.Arg742Thr,ENST00000535187,NM_001282901.1;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000484645,;,regulatory_region_variant,,ENSR00000126399,; C ENSG00000091428 ENST00000397081 Transcript missense_variant 3028/4299 2885/3036 962/1011 R/T aGa/aCa 1 1 RAPGEF4 HGNC HGNC:16626 protein_coding YES CCDS42775.1 ENSP00000380271 Q8WZA2 UPI000006D4C7 NM_007023.3 deleterious(0) benign(0.1) 30/31 Gene3D:1.10.840.10,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,SMART_domains:SM00147,Superfamily_domains:SSF48366,cd00155 MODERATE 1 SNV 1 PASS AGA . . 173048631 COL3A1 . GRCh38 chr2 188994233 188994233 + Splice_Site SNP G G C novel 7316-207 BS_KZCXH6EX G G c.1195-1G>C p.X399_splice ENST00000304636 64 57 7 34 34 0 COL3A1,splice_acceptor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_acceptor_variant,,ENST00000317840,;COL3A1,splice_acceptor_variant,,ENST00000450867,;MIR3606,upstream_gene_variant,,ENST00000637672,; C ENSG00000168542 ENST00000304636 Transcript splice_acceptor_variant 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 17/50 HIGH 1 SNV 1 1 PASS AGG . . 188994233 COL3A1 . GRCh38 chr2 188995099 188995099 + Missense_Mutation SNP G G C novel 7316-207 BS_KZCXH6EX G G c.1509G>C p.Lys503Asn p.K503N ENST00000304636 21/51 73 65 8 34 32 0 COL3A1,missense_variant,p.Lys503Asn,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Lys503Asn,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;MIR3606,upstream_gene_variant,,ENST00000637672,; C ENSG00000168542 ENST00000304636 Transcript missense_variant,splice_region_variant 1679/5543 1509/4401 503/1466 K/N aaG/aaC 1 1 COL3A1 HGNC HGNC:2201 protein_coding YES CCDS2297.1 ENSP00000304408 P02461 UPI0000456EBA NM_000090.3 deleterious(0.04) probably_damaging(0.998) 21/51 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604,Pfam_domain:PF01391 MODERATE 1 SNV 1 1 PASS AGG . . 188995099 TLR9 . GRCh38 chr3 52222592 52222592 + Missense_Mutation SNP C C T rs192701551 7316-207 BS_KZCXH6EX C C c.1724G>A p.Arg575His p.R575H ENST00000360658 2/2 88 82 5 27 27 0 TLR9,missense_variant,p.Arg575His,ENST00000360658,NM_017442.3;AC097637.1,missense_variant,p.Arg729His,ENST00000494383,;AC097637.2,upstream_gene_variant,,ENST00000624096,;AC097637.1,downstream_gene_variant,,ENST00000478201,;,regulatory_region_variant,,ENSR00000152514,; T ENSG00000239732 ENST00000360658 Transcript missense_variant 2358/3870 1724/3099 575/1032 R/H cGc/cAc rs192701551,COSM2852643 1 -1 TLR9 HGNC HGNC:15633 protein_coding YES CCDS2848.1 ENSP00000353874 Q9NR96 UPI0000001625 NM_017442.3 tolerated(0.27) benign(0) 2/2 Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF37,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058 0.0004 0.002 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 0.0001262 6.551e-05 0.001566 4.505e-05 8.989e-06 3.249e-05 52222592 MUC21 . GRCh38 chr6 30987222 30987222 + Missense_Mutation SNP G G C rs141934200 7316-207 BS_KZCXH6EX G G c.1047G>C p.Glu349Asp p.E349D ENST00000376296 2/3 78 55 15 23 19 0 MUC21,missense_variant,p.Glu349Asp,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,; C ENSG00000204544 ENST00000376296 Transcript missense_variant 1288/3651 1047/1701 349/566 E/D gaG/gaC rs141934200,COSM1186997 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 tolerated(0.58) benign(0.006) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR39408,Pfam_domain:PF05647 0,1 MODERATE 1 SNV 1 0,1 PASS AGT . . 0.0002585 0.0001464 0.0005787 0.001554 6.835e-05 0.0002595 0.0001154 0.000218 0.0002619 30987222 MUC3A . GRCh38 chr7 100955666 100955666 + Missense_Mutation SNP C C A rs1453048058 7316-207 BS_KZCXH6EX C C c.3887C>A p.Ala1296Glu p.A1296E ENST00000379458 2/12 62 53 7 32 31 0 MUC3A,missense_variant,p.Ala1296Glu,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Ala1296Glu,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 3957/11226 3887/9972 1296/3323 A/E gCa/gAa rs1453048058 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 tolerated_low_confidence(0.14) unknown(0) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,hmmpanther:PTHR24041:SF22,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GCA . . 100955666 MUC3A . GRCh38 chr7 100955692 100955692 + Missense_Mutation SNP T T A rs1349892383 7316-207 BS_KZCXH6EX T T c.3913T>A p.Ser1305Thr p.S1305T ENST00000379458 2/12 60 51 5 29 28 0 MUC3A,missense_variant,p.Ser1305Thr,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Ser1305Thr,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 3983/11226 3913/9972 1305/3323 S/T Tcc/Acc rs1349892383 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 tolerated_low_confidence(0.28) unknown(0) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,hmmpanther:PTHR24041:SF22 MODERATE 1 SNV 5 PASS TTC . . 100955692 ATP6V0A4 . GRCh38 chr7 138749322 138749322 + Splice_Region DEL A A - rs1184612512 7316-207 BS_KZCXH6EX A A c.1030-5del ENST00000310018 65 44 12 14 12 0 ATP6V0A4,splice_region_variant,,ENST00000310018,NM_130840.2,NM_020632.2;ATP6V0A4,splice_region_variant,,ENST00000353492,;ATP6V0A4,splice_region_variant,,ENST00000393054,NM_130841.2;ATP6V0A4,splice_region_variant,,ENST00000478480,;ATP6V0A4,splice_region_variant,,ENST00000644341,;ATP6V0A4,splice_region_variant,,ENST00000645515,;ATP6V0A4,upstream_gene_variant,,ENST00000471085,;ATP6V0A4,upstream_gene_variant,,ENST00000647427,; - ENSG00000105929 ENST00000310018 Transcript splice_region_variant,intron_variant rs1184612512,COSM1622404 1 -1 ATP6V0A4 HGNC HGNC:866 protein_coding YES CCDS5849.1 ENSP00000308122 Q9HBG4 A0A024R791 UPI000013CDFD NM_130840.2,NM_020632.2 11/21 0,1 LOW 1 deletion 1 0,1 1 PASS GGAA . . 0.4746 0.4816 0.4812 0.4786 0.4751 0.4739 0.479 0.4723 0.4471 138749321 WASHC1 . GRCh38 chr9 14926 14926 + Missense_Mutation SNP C C T rs76748727 7316-207 BS_KZCXH6EX C C c.1279G>A p.Gly427Arg p.G427R ENST00000442898 11/11 42 32 9 24 24 0 WASHC1,missense_variant,p.Gly427Arg,ENST00000442898,NM_182905.4;DDX11L5,downstream_gene_variant,,ENST00000421620,; T ENSG00000181404 ENST00000442898 Transcript missense_variant 1422/1827 1279/1398 427/465 G/R Gga/Aga rs76748727 1 -1 WASHC1 HGNC HGNC:24361 protein_coding YES CCDS78375.1 ENSP00000485627 A8K0Z3 UPI0000251DC1 NM_182905.4 deleterious(0.01) benign(0.066) 11/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23331 MODERATE 1 SNV 2 PASS CCT . . 0.06521 0.2763 0.08448 0.03097 0.1724 0.006485 0.0469 0.066 0.05051 14926 C11orf95 . GRCh38 chr11 63765863 63765865 + In_Frame_Del DEL TCC TCC - rs750330160 7316-207 BS_KZCXH6EX TCC TCC c.579_581del p.Glu200del p.E200del ENST00000433688 2/5 90 70 6 26 22 0 C11orf95,inframe_deletion,p.Glu200del,ENST00000433688,NM_001144936.1;C11orf95,inframe_deletion,p.Glu37del,ENST00000445014,;C11orf95,inframe_deletion,p.Glu40del,ENST00000338498,;C11orf95,downstream_gene_variant,,ENST00000546282,; - ENSG00000188070 ENST00000433688 Transcript inframe_deletion 732-734/5716 579-581/2037 193-194/678 EE/E gaGGAa/gaa rs750330160 1 -1 C11orf95 HGNC HGNC:28449 protein_coding YES CCDS44636.1 ENSP00000482180 C9JLR9 UPI000192951F NM_001144936.1 2/5 hmmpanther:PTHR34589,hmmpanther:PTHR34589:SF2,mobidb-lite,Low_complexity_(Seg):seg 0.05702 0.06639 MODERATE 1 deletion 5 1 PASS CTTCCT . . 0.1449 0.1241 0.1748 0.1519 0.195 0.07223 0.1339 0.1628 0.1791 63765862 KRTAP5-9 . GRCh38 chr11 71548956 71548956 + Missense_Mutation SNP G G A novel 7316-207 BS_KZCXH6EX G G c.299G>A p.Ser100Asn p.S100N ENST00000528743 1/1 79 70 9 29 27 0 KRTAP5-9,missense_variant,p.Ser100Asn,ENST00000528743,NM_005553.3; A ENSG00000254997 ENST00000528743 Transcript missense_variant 539/1136 299/510 100/169 S/N aGc/aAc 1 1 KRTAP5-9 HGNC HGNC:23604 protein_coding YES CCDS53677.1 ENSP00000431443 P26371 UPI000012E079 NM_005553.3 tolerated_low_confidence(0.37) benign(0.395) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF131,Low_complexity_(Seg):seg MODERATE 1 SNV PASS AGC . . 71548956 AC091151.1 . GRCh38 chr18 45549990 45549990 + Splice_Region SNP A A T rs1160507539 7316-207 BS_KZCXH6EX A A n.537-4A>T ENST00000587369 70 64 5 35 31 0 SLC14A2,intron_variant,,ENST00000586448,NM_001242692.1;AC091151.1,splice_region_variant,,ENST00000587369,; T ENSG00000267354 ENST00000587369 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1160507539 1 1 AC091151.1 Clone_based_ensembl_gene sense_intronic YES 3/3 LOW 1 SNV 1 PASS TAA . . 45549990 AP000547.2 . GRCh38 chr22 16526121 16526121 + Splice_Region SNP A A T rs201977621 7316-207 BS_KZCXH6EX A A n.398+8A>T ENST00000609641 70 58 9 24 23 0 AP000547.2,splice_region_variant,,ENST00000609641,; T ENSG00000273362 ENST00000609641 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs201977621 1 1 AP000547.2 Clone_based_ensembl_gene lincRNA YES 2/2 LOW 1 SNV 5 PASS CAG . . 16526121 SUSD2 . GRCh38 chr22 24183081 24183081 + Missense_Mutation SNP G G A rs62231981 7316-207 BS_KZCXH6EX G G c.101G>A p.Arg34His p.R34H ENST00000358321 2/15 91 76 12 30 29 0 SUSD2,missense_variant,p.Arg34His,ENST00000358321,NM_019601.3;CABIN1,downstream_gene_variant,,ENST00000263119,NM_012295.3;CABIN1,downstream_gene_variant,,ENST00000337989,;CABIN1,downstream_gene_variant,,ENST00000398319,NM_001199281.1;CABIN1,downstream_gene_variant,,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000617531,NM_001201429.1;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,; A ENSG00000099994 ENST00000358321 Transcript missense_variant 362/3404 101/2469 34/822 R/H cGc/cAc rs62231981,COSM1178084 1 1 SUSD2 HGNC HGNC:30667 protein_coding YES CCDS13824.1 ENSP00000351075 Q9UGT4 A0A140VJW3 UPI000006CC92 NM_019601.3 tolerated(0.08) benign(0.133) 2/15 PROSITE_profiles:PS50958,hmmpanther:PTHR13802:SF43,hmmpanther:PTHR13802,Pfam_domain:PF01033,Superfamily_domains:SSF90188 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.4722 0.3229 0.4827 0.4869 0.4767 0.4939 0.4844 0.4738 0.4554 24183081 TTC28 . GRCh38 chr22 28679616 28679616 + Splice_Region SNP A A C rs557831193 7316-207 BS_KZCXH6EX A A c.102+6T>G ENST00000397906 112 94 16 26 26 0 TTC28,splice_region_variant,,ENST00000397906,NM_001145418.1;TTC28,splice_region_variant,,ENST00000468807,;,regulatory_region_variant,,ENSR00000144937,; C ENSG00000100154 ENST00000397906 Transcript splice_region_variant,intron_variant rs557831193,COSM6243364 1 -1 TTC28 HGNC HGNC:29179 protein_coding YES CCDS46678.1 ENSP00000381003 Q96AY4 UPI00003E58F8 NM_001145418.1 1/22 0,1 LOW 1 SNV 1 0,1 PASS CAC . . 0.01014 0.00122 0.01198 0.0122 0.007453 0.01163 0.01177 0.01261 0.005722 28679616 TTC28 . GRCh38 chr22 28679663 28679663 + Nonsense_Mutation SNP G G A rs180764192 7316-207 BS_KZCXH6EX G G c.61C>T p.Arg21Ter p.R21* ENST00000397906 1/23 105 83 20 20 20 0 TTC28,stop_gained,p.Arg21Ter,ENST00000397906,NM_001145418.1;TTC28,non_coding_transcript_exon_variant,,ENST00000468807,;,regulatory_region_variant,,ENSR00000144937,; A ENSG00000100154 ENST00000397906 Transcript stop_gained 203/11795 61/7446 21/2481 R/* Cga/Tga rs180764192,COSM4594211 1 -1 TTC28 HGNC HGNC:29179 protein_coding YES CCDS46678.1 ENSP00000381003 Q96AY4 UPI00003E58F8 NM_001145418.1 1/23 Low_complexity_(Seg):seg,mobidb-lite 0,1 HIGH 1 SNV 1 0,1 PASS CGG . . 0.002603 0.0037 0.002147 0.008403 0.001453 0.002031 0.005571 0.00296 28679663 TEX13C . GRCh38 chrX 125321238 125321238 + Missense_Mutation SNP C C A rs757289601 7316-207 BS_KZCXH6EX C C c.1119C>A p.Asp373Glu p.D373E ENST00000632600 1/1 86 65 17 27 26 1 TEX13C,missense_variant,p.Asp373Glu,ENST00000632600,NM_001195272.1; A ENSG00000282815 ENST00000632600 Transcript missense_variant 1119/5095 1119/2982 373/993 D/E gaC/gaA rs757289601 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.21) possibly_damaging(0.452) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite MODERATE 1 SNV PASS ACA . . 125321238 MTM1 . GRCh38 chrX 150649758 150649758 + Missense_Mutation SNP G G A rs782730135 7316-207 BS_KZCXH6EX G G c.910G>A p.Ala304Thr p.A304T ENST00000370396 10/15 87 74 12 30 29 0 MTM1,missense_variant,p.Ala304Thr,ENST00000370396,NM_000252.2;MTM1,non_coding_transcript_exon_variant,,ENST00000306167,;MTM1,downstream_gene_variant,,ENST00000490530,;,regulatory_region_variant,,ENSR00000249423,; A ENSG00000171100 ENST00000370396 Transcript missense_variant 964/3593 910/1812 304/603 A/T Gcc/Acc rs782730135 1 1 MTM1 HGNC HGNC:7448 protein_coding YES CCDS14694.1 ENSP00000359423 Q13496 A0A024RC06 UPI000012F7F5 NM_000252.2 tolerated(0.08) benign(0.071) 10/15 PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF69,hmmpanther:PTHR10807,Gene3D:3.90.190.10,Pfam_domain:PF06602,Superfamily_domains:SSF52799 MODERATE 1 SNV 1 1 PASS CGC . . 1.124e-05 0.0001555 150649758 SLC9B1P1 . GRCh38 chrY 11344963 11344963 + Splice_Region SNP C C T rs763588005 7316-207 BS_KZCXH6EX C C n.1121+5G>A ENST00000331172 35 28 7 18 17 0 SLC9B1P1,splice_region_variant,,ENST00000331172,; T ENSG00000183704 ENST00000331172 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs763588005,COSM1491343 1 -1 SLC9B1P1 HGNC HGNC:37492 unprocessed_pseudogene YES 8/8 0,1 LOW 1 SNV 0,1 PASS TCT . . 11344963 RBMXL1 . GRCh38 chr1 88983546 88983546 + Missense_Mutation SNP T T C rs764056362 7316-332 BS_KA6B8TG8 T T c.281A>G p.His94Arg p.H94R ENST00000399794 3/3 81 69 10 37 37 0 RBMXL1,missense_variant,p.His94Arg,ENST00000399794,NM_001162536.2;RBMXL1,missense_variant,p.His94Arg,ENST00000321792,NM_019610.5;RBMXL1,missense_variant,p.His94Arg,ENST00000413769,;KYAT3,intron_variant,,ENST00000260508,NM_001008661.2,NM_001349448.1;KYAT3,intron_variant,,ENST00000370486,;KYAT3,intron_variant,,ENST00000370491,NM_001008662.2,NM_001349447.1;KYAT3,intron_variant,,ENST00000446900,; C ENSG00000213516 ENST00000399794 Transcript missense_variant 997/5084 281/1173 94/390 H/R cAt/cGt rs764056362,COSM4144225 1 -1 RBMXL1 HGNC HGNC:25073 protein_coding YES CCDS716.1 ENSP00000446099 Q96E39 UPI000006DA18 NM_001162536.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44345:SF4,hmmpanther:PTHR44345,Gene3D:3.30.70.330,Superfamily_domains:SSF54928 0,1 MODERATE SNV 2 0,1 PASS ATG . . 4.098e-06 9.008e-06 88983546 RBMXL1 . GRCh38 chr1 88983595 88983595 + Missense_Mutation SNP C C T rs201168911 7316-332 BS_KA6B8TG8 C C c.232G>A p.Ala78Thr p.A78T ENST00000399794 3/3 99 84 15 39 39 0 RBMXL1,missense_variant,p.Ala78Thr,ENST00000399794,NM_001162536.2;RBMXL1,missense_variant,p.Ala78Thr,ENST00000321792,NM_019610.5;RBMXL1,missense_variant,p.Ala78Thr,ENST00000413769,;KYAT3,intron_variant,,ENST00000260508,NM_001008661.2,NM_001349448.1;KYAT3,intron_variant,,ENST00000370486,;KYAT3,intron_variant,,ENST00000370491,NM_001008662.2,NM_001349447.1;KYAT3,intron_variant,,ENST00000446900,; T ENSG00000213516 ENST00000399794 Transcript missense_variant 948/5084 232/1173 78/390 A/T Gcc/Acc rs201168911,COSM4144226,COSM3997696 1 -1 RBMXL1 HGNC HGNC:25073 protein_coding YES CCDS716.1 ENSP00000446099 Q96E39 UPI000006DA18 NM_001162536.2 tolerated(0.19) benign(0.013) 3/3 mobidb-lite,PROSITE_profiles:PS50102,cd12382,hmmpanther:PTHR44345:SF4,hmmpanther:PTHR44345,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928 0,1,1 MODERATE SNV 2 0,1,1 PASS GCT . . 0.09238 0.1573 0.1058 0.07377 0.04028 0.0447 0.1114 0.0784 0.06626 88983595 FLG . GRCh38 chr1 152303983 152303983 + Missense_Mutation SNP C C T rs75448155 7316-332 BS_KA6B8TG8 C C c.10903G>A p.Asp3635Asn p.D3635N ENST00000368799 3/3 72 56 15 38 35 1 FLG,missense_variant,p.Asp3635Asn,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,; T ENSG00000143631 ENST00000368799 Transcript missense_variant 10939/12747 10903/12186 3635/4061 D/N Gac/Aac rs75448155,COSM4142668 1 -1 FLG HGNC HGNC:3748 protein_coding YES CCDS30860.1 ENSP00000357789 P20930 UPI0000470CB3 NM_002016.1 deleterious(0) probably_damaging(0.969) 3/3 mobidb-lite,Pfam_domain:PF03516,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF45 0.02681 0.103 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCT . . 0.09441 0.00961 0.1597 0.08446 0.277 0.0718 0.06014 0.07568 0.1446 152303983 TGOLN2 . GRCh38 chr2 85327132 85327132 + Missense_Mutation SNP A A C rs868402769 7316-332 BS_KA6B8TG8 A A c.600T>G p.Asp200Glu p.D200E ENST00000409232 2/4 80 62 12 38 35 2 TGOLN2,missense_variant,p.Asp200Glu,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Asp200Glu,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Asp200Glu,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Asp200Glu,ENST00000409015,;TGOLN2,missense_variant,p.Asp200Glu,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Asp200Glu,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; C ENSG00000152291 ENST00000409232 Transcript missense_variant 662/2235 600/1362 200/453 D/E gaT/gaG rs868402769 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 tolerated(0.89) probably_damaging(0.971) 2/4 hmmpanther:PTHR23211,mobidb-lite MODERATE 1 SNV 1 PASS GAT . . 85327132 ANKRD36B . GRCh38 chr2 97547555 97547556 + Frame_Shift_Ins INS - - T rs1487248270 7316-332 BS_KA6B8TG8 - - c.1559dup p.Asp520GlufsTer6 p.D520Efs*6 ENST00000258459 22/44 68 52 8 33 33 0 ANKRD36B,frameshift_variant,p.Asp172GlufsTer6,ENST00000438709,;ANKRD36B,frameshift_variant,p.Asp520GlufsTer6,ENST00000258459,NM_025190.3;ANKRD36B,frameshift_variant,p.Asp520GlufsTer6,ENST00000359901,;ANKRD36B,downstream_gene_variant,,ENST00000419390,;ANKRD36B,downstream_gene_variant,,ENST00000443455,; T ENSG00000196912 ENST00000258459 Transcript frameshift_variant 1839-1840/5986 1559-1560/4062 520/1353 D/EX gat/gaAt rs1487248270,TMP_ESP_2_98164019_98164018 1 -1 ANKRD36B HGNC HGNC:29333 protein_coding YES CCDS74543.1 ENSP00000481149 Q8N2N9 UPI000155D57B NM_025190.3 22/44 mobidb-lite,hmmpanther:PTHR24176:SF18,hmmpanther:PTHR24176 0.2908 0.5307 HIGH 1 insertion 5 PASS CAT . . 5.414e-06 1.404e-05 97547555 ESRRA . GRCh38 chr11 64315824 64315826 + In_Frame_Del DEL GGG GGG - rs759464632 7316-332 BS_KA6B8TG8 GGG GGG c.1130_1132del p.Arg377_Ala378delinsPro p.R377_A378delinsP ENST00000405666 7/7 132 98 20 44 43 1 ESRRA,inframe_deletion,p.Arg377_Ala378delinsPro,ENST00000405666,NM_001282450.1;ESRRA,inframe_deletion,p.Arg376_Ala377delinsPro,ENST00000406310,NM_001282451.1;ESRRA,inframe_deletion,p.Arg377_Ala378delinsPro,ENST00000000442,NM_004451.4;ESRRA,inframe_deletion,p.Arg158_Ala159delinsPro,ENST00000545035,;PRDX5,upstream_gene_variant,,ENST00000265462,NM_012094.4;TRMT112,downstream_gene_variant,,ENST00000308774,NM_001286082.1;PRDX5,upstream_gene_variant,,ENST00000347941,NM_181652.2;PRDX5,upstream_gene_variant,,ENST00000352435,NM_181651.2;TRMT112,downstream_gene_variant,,ENST00000535126,;TRMT112,downstream_gene_variant,,ENST00000535750,;ESRRA,downstream_gene_variant,,ENST00000539594,;TRMT112,downstream_gene_variant,,ENST00000539854,NM_001286084.1;TRMT112,downstream_gene_variant,,ENST00000544844,NM_016404.2;ESRRA,non_coding_transcript_exon_variant,,ENST00000467987,;TRMT112,downstream_gene_variant,,ENST00000537918,; - ENSG00000173153 ENST00000405666 Transcript inframe_deletion 1364-1366/2283 1130-1132/1272 377-378/423 RA/P cGGGcg/ccg rs759464632,COSM310934 1 1 ESRRA HGNC HGNC:3471 protein_coding YES CCDS41667.1 ENSP00000384851 P11474 Q569H8 UPI0000167B87 NM_001282450.1 7/7 Gene3D:1.10.565.10,Pfam_domain:PF00104,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF27,SMART_domains:SM00430,Superfamily_domains:SSF48508,cd06946,Low_complexity_(Seg):seg 0.01396 0.03382 0,1 MODERATE 1 deletion 1 0,1 PASS GCGGGC . . 0.0003417 0.0003391 0.0001499 0.0001037 0.0005277 0.0001968 0.0005001 0.0001878 9.806e-05 64315823 CRACR2A . GRCh38 chr12 3656394 3656394 + Missense_Mutation SNP A A C rs777517982 7316-332 BS_KA6B8TG8 A A c.775T>G p.Phe259Val p.F259V ENST00000440314 9/20 71 60 5 25 24 1 CRACR2A,missense_variant,p.Phe259Val,ENST00000440314,NM_001144958.1;CRACR2A,missense_variant,p.Phe259Val,ENST00000252322,NM_032680.3;CRACR2A,upstream_gene_variant,,ENST00000535292,;CRACR2A,missense_variant,p.Phe62Val,ENST00000333750,; C ENSG00000130038 ENST00000440314 Transcript missense_variant 1249/2697 775/2196 259/731 F/V Ttt/Gtt rs777517982 1 -1 CRACR2A HGNC HGNC:28657 protein_coding YES CCDS44803.1 ENSP00000409382 Q9BSW2 UPI00017A8807 NM_001144958.1 deleterious(0.04) probably_damaging(0.996) 9/20 Gene3D:1.10.238.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22621,hmmpanther:PTHR22621:SF2 MODERATE 1 SNV 2 PASS AAC . . 6.512e-05 0.0001309 5.806e-05 0.000363 4.484e-05 3656394 TAS2R43 . GRCh38 chr12 11091871 11091871 + Missense_Mutation SNP T T C rs201460452 7316-332 BS_KA6B8TG8 T T c.359A>G p.His120Arg p.H120R ENST00000531678 1/1 88 76 9 35 35 0 TAS2R43,missense_variant,p.His120Arg,ENST00000531678,NM_176884.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000255374 ENST00000531678 Transcript missense_variant 443/1027 359/930 120/309 H/R cAc/cGc rs201460452,COSM215508,COSM1725102 1 -1 TAS2R43 HGNC HGNC:18875 protein_coding YES CCDS53749.1 ENSP00000431719 P59537 UPI000000D81F NM_176884.2 tolerated(0.18) benign(0.018) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF127,Superfamily_domains:SSF81321,cd15027 0,1,1 MODERATE SNV 0,1,1 PASS GTG . . 0.04913 0.02088 0.02584 0.01254 0.01619 0.1016 0.08153 0.04097 0.008421 11091871 PARP4 . GRCh38 chr13 24447125 24447125 + Missense_Mutation SNP T T C rs77269056 7316-332 BS_KA6B8TG8 T T c.3176A>G p.Gln1059Arg p.Q1059R ENST00000381989 26/34 98 80 18 57 56 1 PARP4,missense_variant,p.Gln1059Arg,ENST00000381989,NM_006437.3;PARP4,downstream_gene_variant,,ENST00000484989,;TPTE2P6,intron_variant,,ENST00000445572,; C ENSG00000102699 ENST00000381989 Transcript missense_variant 3282/5474 3176/5175 1059/1724 Q/R cAg/cGg rs77269056,COSM3813619 1 -1 PARP4 HGNC HGNC:271 protein_coding YES CCDS9307.1 ENSP00000371419 Q9UKK3 UPI000013C76E NM_006437.3 deleterious(0) possibly_damaging(0.879) 26/34 hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF127 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 0.2355 0.03304 0.2691 0.1844 0.2293 0.3458 0.2604 0.2205 0.1854 24447125 PARP4 . GRCh38 chr13 24447185 24447185 + Missense_Mutation SNP A A G rs73172125 7316-332 BS_KA6B8TG8 A A c.3116T>C p.Ile1039Thr p.I1039T ENST00000381989 26/34 95 74 20 50 49 1 PARP4,missense_variant,p.Ile1039Thr,ENST00000381989,NM_006437.3;PARP4,downstream_gene_variant,,ENST00000484989,;TPTE2P6,intron_variant,,ENST00000445572,; G ENSG00000102699 ENST00000381989 Transcript missense_variant,splice_region_variant 3222/5474 3116/5175 1039/1724 I/T aTa/aCa rs73172125,COSM147647 1 -1 PARP4 HGNC HGNC:271 protein_coding YES CCDS9307.1 ENSP00000371419 Q9UKK3 UPI000013C76E NM_006437.3 deleterious(0.02) possibly_damaging(0.657) 26/34 PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF127,Gene3D:3.40.50.410,Superfamily_domains:SSF53300 0,1 MODERATE 1 SNV 1 0,1 PASS TAT . . 0.2598 0.07651 0.2766 0.1687 0.2687 0.3709 0.2943 0.2361 0.1711 24447185 LILRA1 . GRCh38 chr19 54596455 54596455 + Missense_Mutation SNP T T A rs1431867687 7316-332 BS_KA6B8TG8 T T c.1225T>A p.Ser409Thr p.S409T ENST00000251372 7/10 101 88 11 36 35 0 LILRA1,missense_variant,p.Ser409Thr,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; A ENSG00000104974 ENST00000251372 Transcript missense_variant 1407/1910 1225/1470 409/489 S/T Tct/Act rs1431867687 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(0.1) benign(0.242) 7/10 Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS GTC . . 54596455 LILRA1 . GRCh38 chr19 54596482 54596482 + Missense_Mutation SNP A A G rs61739188 7316-332 BS_KA6B8TG8 A A c.1252A>G p.Met418Val p.M418V ENST00000251372 7/10 100 88 10 38 37 0 LILRA1,missense_variant,p.Met418Val,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; G ENSG00000104974 ENST00000251372 Transcript missense_variant 1434/1910 1252/1470 418/489 M/V Atg/Gtg rs61739188 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(1) benign(0) 7/10 Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CAT . . 4.061e-06 3.249e-05 54596482 KIF1B . GRCh38 chr1 10297167 10297167 + Splice_Region SNP C C A rs747451420 7316-3062 BS_PT1DC3ZF C C c.1905-7C>A ENST00000263934 86 74 8 15 15 0 KIF1B,splice_region_variant,,ENST00000263934,NM_015074.3;KIF1B,splice_region_variant,,ENST00000377081,;KIF1B,splice_region_variant,,ENST00000377083,;KIF1B,splice_region_variant,,ENST00000377086,;KIF1B,splice_region_variant,,ENST00000377093,NM_183416.3;KIF1B,splice_region_variant,,ENST00000620295,;KIF1B,splice_region_variant,,ENST00000622724,;RNU6-37P,upstream_gene_variant,,ENST00000362692,;KIF1B,downstream_gene_variant,,ENST00000497835,; A ENSG00000054523 ENST00000263934 Transcript splice_region_variant,intron_variant rs747451420 1 1 KIF1B HGNC HGNC:16636 protein_coding YES CCDS111.1 ENSP00000263934 O60333 UPI000013EE7E NM_015074.3 19/46 LOW 1 SNV 1 1 PASS ACT . . 10297167 FLG . GRCh38 chr1 152312029 152312029 + Missense_Mutation SNP C C G rs201137357 7316-3062 BS_PT1DC3ZF C C c.2857G>C p.Glu953Gln p.E953Q ENST00000368799 3/3 90 78 12 30 30 0 FLG,missense_variant,p.Glu953Gln,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,; G ENSG00000143631 ENST00000368799 Transcript missense_variant 2893/12747 2857/12186 953/4061 E/Q Gag/Cag rs201137357,COSM403232 1 -1 FLG HGNC HGNC:3748 protein_coding YES CCDS30860.1 ENSP00000357789 P20930 UPI0000470CB3 NM_002016.1 tolerated(0.1) possibly_damaging(0.885) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Pfam_domain:PF03516,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF45 0.1368 0.3707 0.0576 0.0694 0.0258 0.0603 0.1003 0.0005814 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCA . . 0.005366 0.1367 0.003069 0.0004342 9.064e-05 0.0004953 0.0009645 0.0003075 152312029 RHOU . GRCh38 chr1 228735770 228735770 + Missense_Mutation SNP T T G novel 7316-3062 BS_PT1DC3ZF T T c.28T>G p.Phe10Val p.F10V ENST00000366691 1/3 111 99 11 32 29 2 RHOU,missense_variant,p.Phe10Val,ENST00000366691,NM_021205.5;,regulatory_region_variant,,ENSR00000021350,; G ENSG00000116574 ENST00000366691 Transcript missense_variant 694/4372 28/777 10/258 F/V Ttc/Gtc 1 1 RHOU HGNC HGNC:17794 protein_coding YES CCDS1575.1 ENSP00000355652 Q7L0Q8 A0A024R3Q7 UPI0000073CDF NM_021205.5 tolerated_low_confidence(0.45) benign(0) 1/3 mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 228735770 MAP3K1 . GRCh38 chr5 56882157 56882159 + In_Frame_Del DEL CTT CTT - rs754402779 7316-3062 BS_PT1DC3ZF CTT CTT c.2965_2967del p.Ser989del p.S989del ENST00000399503 14/20 66 47 12 31 28 0 MAP3K1,inframe_deletion,p.Ser989del,ENST00000399503,NM_005921.1;MAP3K1,upstream_gene_variant,,ENST00000469188,; - ENSG00000095015 ENST00000399503 Transcript inframe_deletion 2957-2959/7011 2957-2959/4539 986-987/1512 PS/P cCTTct/cct rs754402779,COSM6233288 1 1 MAP3K1 HGNC HGNC:6848 protein_coding YES CCDS43318.1 ENSP00000382423 Q13233 UPI000015153B NM_005921.1 14/20 Low_complexity_(Seg):seg,hmmpanther:PTHR24361:SF414,hmmpanther:PTHR24361 0.0002744 0.0002536 0,1 MODERATE 1 deletion 1 8 0,1 1 PASS CCCTTC . . 2.043e-05 6.905e-05 3.596e-05 56882156 MUCL3 . GRCh38 chr6 30949614 30949614 + Nonsense_Mutation SNP G G T 7316-3062 BS_PT1DC3ZF G G c.1150G>T p.Gly384Ter p.G384* ENST00000462446 2/3 84 65 8 20 19 0 MUCL3,stop_gained,p.Gly451Ter,ENST00000636043,;MUCL3,stop_gained,p.Gly384Ter,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; T ENSG00000168631 ENST00000462446 Transcript stop_gained 1178/5314 1150/4182 384/1393 G/* Gga/Tga COSM4160591 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 2/3 mobidb-lite,hmmpanther:PTHR22094 1 HIGH SNV 5 1 1 PASS TGG . . 30949614 TRPM3 . GRCh38 chr9 70843130 70843130 + Splice_Region DEL A A - rs757999452 7316-3062 BS_PT1DC3ZF A A c.677-3del ENST00000377110 54 46 5 25 23 0 TRPM3,splice_region_variant,,ENST00000357533,;TRPM3,splice_region_variant,,ENST00000358082,;TRPM3,splice_region_variant,,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,splice_region_variant,,ENST00000361823,NM_206948.2;TRPM3,splice_region_variant,,ENST00000377097,;TRPM3,splice_region_variant,,ENST00000377101,;TRPM3,splice_region_variant,,ENST00000377105,NM_024971.5;TRPM3,splice_region_variant,,ENST00000377110,NM_001007471.2;TRPM3,splice_region_variant,,ENST00000377111,;TRPM3,splice_region_variant,,ENST00000396280,NM_206945.3;TRPM3,splice_region_variant,,ENST00000396283,NM_001007470.1;TRPM3,splice_region_variant,,ENST00000396285,NM_020952.4;TRPM3,splice_region_variant,,ENST00000396292,NM_206946.3;TRPM3,splice_region_variant,,ENST00000408909,;TRPM3,splice_region_variant,,ENST00000354500,; - ENSG00000083067 ENST00000377110 Transcript splice_region_variant,intron_variant rs757999452,COSM1735314,COSM1735315,COSM1735316,COSM1735317 1 -1 TRPM3 HGNC HGNC:17992 protein_coding YES CCDS43835.1 ENSP00000366314 Q9HCF6 UPI0001596895 NM_001007471.2 4/24 0,1,1,1,1 LOW 1 deletion 1 0,1,1,1,1 PASS CTAA . . 0.001316 0.0002618 0.003333 0.001856 0.005156 0.00048 0.0005977 0.0008371 0.001313 70843129 SVEP1 . GRCh38 chr9 110377270 110377270 + Splice_Site SNP C C T novel 7316-3062 BS_PT1DC3ZF C C c.10504+1G>A p.X3502_splice ENST00000374469 80 75 5 36 36 0 SVEP1,splice_donor_variant,,ENST00000374469,NM_153366.3;SVEP1,splice_donor_variant,,ENST00000401783,;SVEP1,non_coding_transcript_exon_variant,,ENST00000476205,; T ENSG00000165124 ENST00000374469 Transcript splice_donor_variant 1 -1 SVEP1 HGNC HGNC:15985 protein_coding YES CCDS48004.1 ENSP00000363593 Q4LDE5 UPI000153DA74 NM_153366.3 45/47 HIGH 1 SNV 5 PASS ACG . . 110377270 ANKRD30A . GRCh38 chr10 37142015 37142015 + Missense_Mutation SNP C C T rs374024060 7316-3062 BS_PT1DC3ZF C C c.950C>T p.Thr317Met p.T317M ENST00000361713 7/36 77 70 7 26 25 0 ANKRD30A,missense_variant,p.Thr317Met,ENST00000374660,;ANKRD30A,missense_variant,p.Thr373Met,ENST00000611781,;ANKRD30A,missense_variant,p.Thr317Met,ENST00000602533,;ANKRD30A,missense_variant,p.Thr317Met,ENST00000361713,NM_052997.2; T ENSG00000148513 ENST00000361713 Transcript missense_variant 1049/4405 950/4026 317/1341 T/M aCg/aTg rs374024060,COSM6488423,COSM6488422,COSM4137979,COSM4137978 1 1 ANKRD30A HGNC HGNC:17234 protein_coding YES CCDS7193.1 ENSP00000354432 R4GNA2 UPI0000458879 NM_052997.2 deleterious(0.01) benign(0.284) 7/36 Gene3D:1.25.40.20,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF10,mobidb-lite 0.0001222 0,1,1,1,1 27863482 MODERATE 1 SNV 5 0,1,1,1,1 PASS ACG . . 7.724e-05 6.544e-05 5.958e-05 0.0001345 0.0001828 37142015 ADAMTS8 . GRCh38 chr11 130406043 130406043 + Missense_Mutation SNP C C T 7316-3062 BS_PT1DC3ZF C C c.2185G>A p.Asp729Asn p.D729N ENST00000257359 9/9 97 91 6 33 33 0 ADAMTS8,missense_variant,p.Asp729Asn,ENST00000257359,NM_007037.5;AP002986.1,downstream_gene_variant,,ENST00000602376,;AP002986.1,downstream_gene_variant,,ENST00000616197,;ADAMTS8,non_coding_transcript_exon_variant,,ENST00000531752,; T ENSG00000134917 ENST00000257359 Transcript missense_variant 2892/4010 2185/2670 729/889 D/N Gat/Aat COSM3445345,COSM3445344,COSM3445343 1 -1 ADAMTS8 HGNC HGNC:224 protein_coding YES CCDS41732.1 ENSP00000257359 Q9UP79 UPI000013CF5D NM_007037.5 tolerated(0.11) probably_damaging(1) 9/9 Pfam_domain:PF05986,Prints_domain:PR01861,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41 1,1,1 MODERATE 1 SNV 1 1,1,1 PASS TCG . . 130406043 ANKRD40 . GRCh38 chr17 50697049 50697049 + Missense_Mutation SNP C C T rs1421079791 7316-3062 BS_PT1DC3ZF C C c.851G>A p.Arg284Gln p.R284Q ENST00000285243 4/5 84 63 21 28 28 0 ANKRD40,missense_variant,p.Arg284Gln,ENST00000285243,NM_052855.3;ABCC3,downstream_gene_variant,,ENST00000285238,NM_003786.3;ANKRD40,downstream_gene_variant,,ENST00000513072,;RF00019,downstream_gene_variant,,ENST00000364470,;AC005921.2,downstream_gene_variant,,ENST00000574246,;ANKRD40,downstream_gene_variant,,ENST00000507114,; T ENSG00000154945 ENST00000285243 Transcript missense_variant 1121/4184 851/1107 284/368 R/Q cGa/cAa rs1421079791 1 -1 ANKRD40 HGNC HGNC:28233 protein_coding YES CCDS11572.1 ENSP00000285243 Q6AI12 A8IK34 UPI000006F76F NM_052855.3 deleterious(0) possibly_damaging(0.797) 4/5 hmmpanther:PTHR24192,hmmpanther:PTHR24192:SF1 MODERATE 1 SNV 1 PASS TCG . . 1.219e-05 6.537e-05 1.791e-05 50697049 MUC16 . GRCh38 chr19 8899035 8899035 + Splice_Region SNP T T A rs201630664 7316-3062 BS_PT1DC3ZF T T c.39015A>T p.Thr13005= p.T13005= ENST00000397910 39/84 88 71 16 36 35 0 MUC16,splice_region_variant,p.Thr13005=,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,; A ENSG00000181143 ENST00000397910 Transcript splice_region_variant,synonymous_variant 39219/43816 39015/43524 13005/14507 T acA/acT rs201630664,COSM5764450,COSM5764449 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 39/84 Low_complexity_(Seg):seg,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672,Gene3D:3.30.70.960 0,1,1 LOW 1 SNV 5 0,1,1 1 PASS CTG . . 8899035 MUC16 . GRCh38 chr19 8910135 8910135 + Missense_Mutation SNP T T A rs200506767 7316-3062 BS_PT1DC3ZF T T c.37291A>T p.Thr12431Ser p.T12431S ENST00000397910 20/84 76 65 11 22 22 0 MUC16,missense_variant,p.Thr12431Ser,ENST00000397910,NM_024690.2; A ENSG00000181143 ENST00000397910 Transcript missense_variant 37495/43816 37291/43524 12431/14507 T/S Acc/Tcc rs200506767,COSM5013359 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0.003) 20/84 PROSITE_profiles:PS50024,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672,Pfam_domain:PF01390,Gene3D:3.30.70.960,SMART_domains:SM00200,Superfamily_domains:SSF82671 0,1 MODERATE 1 SNV 5 0,1 1 PASS GTG . . 8.75e-05 0.0001615 0.0003548 9.59e-05 6.742e-05 0.000399 3.623e-05 8910135 SIGLEC6 . GRCh38 chr19 51529862 51529862 + Missense_Mutation SNP C C T rs1420960508 7316-3062 BS_PT1DC3ZF C C c.874G>A p.Ala292Thr p.A292T ENST00000425629 5/8 94 83 10 21 21 0 SIGLEC6,missense_variant,p.Ala276Thr,ENST00000346477,NM_198845.4;SIGLEC6,missense_variant,p.Ala292Thr,ENST00000425629,NM_001245.5;SIGLEC6,missense_variant,p.Ala303Thr,ENST00000359982,NM_001177548.1;SIGLEC6,missense_variant,p.Ala292Thr,ENST00000343300,NM_198846.4;SIGLEC6,missense_variant,p.Ala240Thr,ENST00000436458,NM_001177547.1;SIGLEC6,missense_variant,p.Ala281Thr,ENST00000391797,NM_001177549.1;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,; T ENSG00000105492 ENST00000425629 Transcript missense_variant 1029/1852 874/1362 292/453 A/T Gcc/Acc rs1420960508,COSM287216,COSM287215 1 -1 SIGLEC6 HGNC HGNC:10875 protein_coding YES CCDS12834.3 ENSP00000401502 O43699 A0A024R4K4 UPI0000223FFD NM_001245.5 tolerated(1) benign(0.058) 5/8 Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF94,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GCG . . 2.437e-05 5.956e-05 1.79e-05 6.497e-05 51529862 LILRA6 . GRCh38 chr19 54242038 54242038 + Missense_Mutation SNP G G T rs551832340 7316-3062 BS_PT1DC3ZF G G c.343C>A p.Leu115Met p.L115M ENST00000396365 3/8 61 45 16 19 19 0 LILRA6,missense_variant,p.Leu115Met,ENST00000396365,NM_024318.3;LILRA6,missense_variant,p.Leu115Met,ENST00000245621,;LILRA6,missense_variant,p.Leu115Met,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000270464,;RPS9,intron_variant,,ENST00000448962,;,regulatory_region_variant,,ENSR00000111473,;AC245052.6,downstream_gene_variant,,ENST00000506567,; T ENSG00000244482 ENST00000396365 Transcript missense_variant 383/1890 343/1446 115/481 L/M Ctg/Atg rs551832340 1 -1 LILRA6 HGNC HGNC:15495 protein_coding YES CCDS42610.1 ENSP00000379651 Q6PI73 U5XH19 UPI000292EF7A NM_024318.3 deleterious(0) benign(0.42) 3/8 Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05751 0.0010 0.0038 MODERATE 1 SNV 1 PASS AGC . . 2.843e-05 0.0002626 5.957e-05 5.798e-05 54242038 OGFR . GRCh38 chr20 62813345 62813345 + Missense_Mutation SNP G G C rs6122315 7316-3062 BS_PT1DC3ZF G G c.1730G>C p.Ser577Thr p.S577T ENST00000290291 7/7 42 24 18 15 12 0 OGFR,missense_variant,p.Ser525Thr,ENST00000370461,;OGFR,missense_variant,p.Ser577Thr,ENST00000290291,NM_007346.2;OGFR,intron_variant,,ENST00000621591,;COL9A3,upstream_gene_variant,,ENST00000343916,NM_001853.3;OGFR,downstream_gene_variant,,ENST00000450048,;COL9A3,upstream_gene_variant,,ENST00000452372,;COL9A3,upstream_gene_variant,,ENST00000477612,;COL9A3,upstream_gene_variant,,ENST00000489045,; C ENSG00000060491 ENST00000290291 Transcript missense_variant 1755/2410 1730/2034 577/677 S/T aGc/aCc rs6122315,COSM3749734,COSM1412995 1 1 OGFR HGNC HGNC:15768 protein_coding YES CCDS13504.1 ENSP00000290291 Q9NZT2 UPI000013F107 NM_007346.2 tolerated_low_confidence(0.07) benign(0.003) 7/7 mobidb-lite,Pfam_domain:PF04680 0.3666 0.4523 0.3386 0.4425 0.2813 0.2802 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGC . . 0.04305 0.1496 0.03799 0.01546 0.03001 0.01721 0.05282 0.05278 0.01355 62813345 TEX11 . GRCh38 chrX 70725289 70725289 + Missense_Mutation SNP C C T rs575754903 7316-3062 BS_PT1DC3ZF C C c.943G>A p.Glu315Lys p.E315K ENST00000395889 13/31 75 44 31 25 25 0 TEX11,missense_variant,p.Glu315Lys,ENST00000395889,NM_001003811.1;TEX11,missense_variant,p.Glu300Lys,ENST00000374333,NM_031276.2;TEX11,missense_variant,p.Glu315Lys,ENST00000344304,;TEX11,upstream_gene_variant,,ENST00000374320,; T ENSG00000120498 ENST00000395889 Transcript missense_variant 1099/3133 943/2823 315/940 E/K Gaa/Aaa rs575754903,COSM5540256,COSM5540255 1 -1 TEX11 HGNC HGNC:11733 protein_coding YES CCDS35323.1 ENSP00000379226 Q8IYF3 UPI000013CA89 NM_001003811.1 tolerated(0.78) benign(0.036) 13/31 Gene3D:1.25.40.10,Pfam_domain:PF08631,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF386 0.0040 0,1,1 MODERATE 1 SNV 2 0,1,1 1 PASS TCG . . 0.0007883 3.848e-05 5.05e-05 0.007183 70725289 AGRN . GRCh38 chr1 1040813 1040813 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.660A>C p.Glu220Asp p.E220D ENST00000379370 4/36 99 78 13 35 33 0 AGRN,missense_variant,p.Glu82Asp,ENST00000620552,NM_001305275.1;AGRN,missense_variant,p.Glu220Asp,ENST00000379370,NM_198576.3;AGRN,downstream_gene_variant,,ENST00000477585,;AGRN,non_coding_transcript_exon_variant,,ENST00000469403,;AGRN,upstream_gene_variant,,ENST00000479707,;,regulatory_region_variant,,ENSR00000000127,; C ENSG00000188157 ENST00000379370 Transcript missense_variant 710/7323 660/6138 220/2045 E/D gaA/gaC 1 1 AGRN HGNC HGNC:329 protein_coding YES CCDS30551.1 ENSP00000368678 O00468 UPI00001D7C8B NM_198576.3 deleterious(0.01) probably_damaging(0.997) 4/36 Gene3D:3.30.60.30,Pfam_domain:PF07648,PROSITE_profiles:PS51465,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF288,SMART_domains:SM00057,SMART_domains:SM00280,Superfamily_domains:SSF100895,cd00104 MODERATE 1 SNV 1 1 PASS AAT . . 1040813 TP73 . GRCh38 chr1 3722181 3722181 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.590A>C p.His197Pro p.H197P ENST00000378295 5/14 103 84 14 35 35 0 TP73,missense_variant,p.His197Pro,ENST00000378295,NM_005427.3,NM_001204185.1;TP73,missense_variant,p.His148Pro,ENST00000378288,NM_001204190.1,NM_001126240.2,NM_001204191.1;TP73,missense_variant,p.His197Pro,ENST00000357733,NM_001204187.1;TP73,missense_variant,p.His197Pro,ENST00000346387,NM_001204188.1;TP73,missense_variant,p.His197Pro,ENST00000604074,NM_001204186.1;TP73,missense_variant,p.His197Pro,ENST00000354437,NM_001204184.1;TP73,missense_variant,p.His148Pro,ENST00000378285,NM_001126241.2;TP73,missense_variant,p.His148Pro,ENST00000378280,NM_001204189.1,NM_001126242.2;TP73,missense_variant,p.His126Pro,ENST00000378290,NM_001204192.1;TP73,missense_variant,p.His197Pro,ENST00000603362,;TP73,missense_variant,p.His197Pro,ENST00000604479,;TP73,non_coding_transcript_exon_variant,,ENST00000603364,; C ENSG00000078900 ENST00000378295 Transcript missense_variant 745/5188 590/1911 197/636 H/P cAc/cCc 1 1 TP73 HGNC HGNC:12003 protein_coding YES CCDS49.1 ENSP00000367545 O15350 A0A024R4C3 UPI000002E988 NM_005427.3,NM_001204185.1 deleterious(0) probably_damaging(0.932) 5/14 cd08367,hmmpanther:PTHR11447:SF21,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386 MODERATE 1 SNV 1 1 PASS CAC . . 3722181 PIK3CD . GRCh38 chr1 9724279 9724279 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.2722T>G p.Phe908Val p.F908V ENST00000377346 22/24 90 71 16 21 21 0 PIK3CD,missense_variant,p.Phe932Val,ENST00000536656,;PIK3CD,missense_variant,p.Phe932Val,ENST00000628140,;PIK3CD,missense_variant,p.Phe908Val,ENST00000377346,NM_005026.3,NM_001350234.1;PIK3CD,missense_variant,p.Phe932Val,ENST00000361110,;PIK3CD,missense_variant,p.Phe932Val,ENST00000543390,;CLSTN1,downstream_gene_variant,,ENST00000361311,NM_014944.4;CLSTN1,downstream_gene_variant,,ENST00000377298,NM_001009566.2,NM_001302883.1;CLSTN1,downstream_gene_variant,,ENST00000435891,;CLSTN1,downstream_gene_variant,,ENST00000477264,; G ENSG00000171608 ENST00000377346 Transcript missense_variant 2917/5203 2722/3135 908/1044 F/V Ttc/Gtc 1 1 PIK3CD HGNC HGNC:8977 protein_coding YES CCDS104.1 ENSP00000366563 O00329 A0A2K8FKV1 UPI000013E807 NM_005026.3,NM_001350234.1 deleterious(0) probably_damaging(0.995) 22/24 PROSITE_profiles:PS50290,cd05174,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,Pfam_domain:PF00454,PIRSF_domain:PIRSF000587,SMART_domains:SM00146,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 1 PASS GTT . . 9724279 RPS6KA1 . GRCh38 chr1 26558848 26558848 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1153T>G p.Phe385Val p.F385V ENST00000531382 13/21 109 83 22 40 40 0 RPS6KA1,missense_variant,p.Phe376Val,ENST00000374168,NM_002953.3;RPS6KA1,missense_variant,p.Phe365Val,ENST00000374166,;RPS6KA1,missense_variant,p.Phe360Val,ENST00000530003,NM_001330441.1;RPS6KA1,missense_variant,p.Phe284Val,ENST00000526792,;RPS6KA1,missense_variant,p.Phe385Val,ENST00000531382,NM_001006665.1;RPS6KA1,missense_variant,p.Phe34Val,ENST00000403732,;RPS6KA1,downstream_gene_variant,,ENST00000529454,;MIR1976,downstream_gene_variant,,ENST00000459548,;RPS6KA1,downstream_gene_variant,,ENST00000488985,;RPS6KA1,3_prime_UTR_variant,,ENST00000374163,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000531113,;RPS6KA1,downstream_gene_variant,,ENST00000474934,;RPS6KA1,downstream_gene_variant,,ENST00000527264,; G ENSG00000117676 ENST00000531382 Transcript missense_variant 1202/2359 1153/2235 385/744 F/V Ttc/Gtc 1 1 RPS6KA1 HGNC HGNC:10430 protein_coding YES CCDS30649.1 ENSP00000435412 Q15418 UPI000046D37A NM_001006665.1 deleterious(0) probably_damaging(0.969) 13/21 Pfam_domain:PF00433,PIRSF_domain:PIRSF000606,PROSITE_profiles:PS51285,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF43,SMART_domains:SM00133,Superfamily_domains:SSF56112,cd05582 MODERATE 1 SNV 2 PASS GTT . . 26558848 KIAA1522 . GRCh38 chr1 32742004 32742004 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.50A>C p.Asn17Thr p.N17T ENST00000401073 1/7 71 51 14 28 26 0 KIAA1522,missense_variant,p.Asn17Thr,ENST00000401073,NM_020888.2;,regulatory_region_variant,,ENSR00000004400,; C ENSG00000162522 ENST00000401073 Transcript missense_variant 120/5438 50/3285 17/1094 N/T aAc/aCc 1 1 KIAA1522 HGNC HGNC:29301 protein_coding YES CCDS41298.1 ENSP00000383851 Q9P206 UPI000022ACD0 NM_020888.2 tolerated_low_confidence(0.2) benign(0.01) 1/7 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 2 PASS AAC . . 32742004 TRIM62 . GRCh38 chr1 33147658 33147658 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.947T>G p.Ile316Ser p.I316S ENST00000291416 5/5 106 95 10 49 49 0 TRIM62,missense_variant,p.Ile316Ser,ENST00000291416,NM_018207.2;TRIM62,missense_variant,p.Ile195Ser,ENST00000543586,;AL662907.1,upstream_gene_variant,,ENST00000622988,; C ENSG00000116525 ENST00000291416 Transcript missense_variant 1181/3437 947/1428 316/475 I/S aTt/aGt 1 -1 TRIM62 HGNC HGNC:25574 protein_coding YES CCDS376.1 ENSP00000291416 Q9BVG3 UPI000004E050 NM_018207.2 tolerated(0.7) probably_damaging(0.998) 5/5 Pfam_domain:PF13765,PROSITE_profiles:PS50188,hmmpanther:PTHR44615,SMART_domains:SM00589,Superfamily_domains:SSF49899,cd13744 MODERATE 1 SNV 1 PASS AAT . . 33147658 SFPQ . GRCh38 chr1 35192283 35192283 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.767A>C p.His256Pro p.H256P ENST00000357214 1/10 113 97 8 36 36 0 SFPQ,missense_variant,p.His256Pro,ENST00000357214,NM_005066.2;RF00019,upstream_gene_variant,,ENST00000364998,;SFPQ,upstream_gene_variant,,ENST00000460428,;SFPQ,upstream_gene_variant,,ENST00000470472,;,regulatory_region_variant,,ENSR00000004649,; G ENSG00000116560 ENST00000357214 Transcript missense_variant 866/3747 767/2124 256/707 H/P cAc/cCc 1 -1 SFPQ HGNC HGNC:10774 protein_coding YES CCDS388.1 ENSP00000349748 P23246 UPI00001358B9 NM_005066.2 tolerated(0.09) benign(0) 1/10 Gene3D:3.30.70.330,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF51,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTG . . 35192283 ZMYM4 . GRCh38 chr1 35269047 35269047 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.1A>C p.Met1? p.M1? ENST00000314607 1/30 113 87 12 42 39 0 ZMYM4,start_lost,p.Met1?,ENST00000314607,NM_005095.2,NM_001350138.1;ZMYM4,5_prime_UTR_variant,,ENST00000441447,;,regulatory_region_variant,,ENSR00000004658,;,TF_binding_site_variant,,MA0095.2,; C ENSG00000146463 ENST00000314607 Transcript start_lost 81/6994 1/4647 1/1548 M/L Atg/Ctg 1 1 ZMYM4 HGNC HGNC:13055 protein_coding YES CCDS389.1 ENSP00000322915 Q5VZL5 UPI0000203EE6 NM_005095.2,NM_001350138.1 tolerated_low_confidence(0.57) benign(0.003) 1/30 HIGH 1 SNV 2 PASS CAT . . 35269047 KCNQ4 . GRCh38 chr1 40784143 40784143 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.50A>C p.Asp17Ala p.D17A ENST00000642618 1/14 49 40 7 51 49 1 KCNQ4,missense_variant,p.Asp17Ala,ENST00000642618,;KCNQ4,missense_variant,p.Asp17Ala,ENST00000347132,NM_004700.3;KCNQ4,missense_variant,p.Asp17Ala,ENST00000509682,NM_172163.2;,regulatory_region_variant,,ENSR00000005253,; C ENSG00000117013 ENST00000642618 Transcript missense_variant 330/4297 50/2088 17/695 D/A gAc/gCc 1 1 KCNQ4 HGNC HGNC:6298 protein_coding YES CCDS456.1 ENSP00000494128 UPI000013D35B tolerated_low_confidence(0.12) benign(0.011) 1/14 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAC . . 40784143 CITED4 . GRCh38 chr1 40861815 40861815 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.313A>C p.Asn105His p.N105H ENST00000372638 1/1 84 71 9 28 28 0 CITED4,missense_variant,p.Asn105His,ENST00000372638,NM_133467.2;AC119677.1,upstream_gene_variant,,ENST00000414199,;,regulatory_region_variant,,ENSR00000005267,; G ENSG00000179862 ENST00000372638 Transcript missense_variant 552/1316 313/555 105/184 N/H Aac/Cac 1 -1 CITED4 HGNC HGNC:18696 protein_coding YES CCDS458.1 ENSP00000361721 Q96RK1 UPI000004241F NM_133467.2 tolerated(0.13) benign(0.202) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR17045:SF5,hmmpanther:PTHR17045 MODERATE SNV PASS TTG . . 40861815 ARTN . GRCh38 chr1 43936233 43936233 + Splice_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.223+2T>G p.X75_splice ENST00000414809 95 80 9 45 44 0 ARTN,splice_donor_variant,,ENST00000372354,;ARTN,splice_donor_variant,,ENST00000372359,NM_057091.2;ARTN,splice_donor_variant,,ENST00000414809,NM_057090.2;ARTN,splice_donor_variant,,ENST00000438616,;ARTN,splice_donor_variant,,ENST00000474592,;ARTN,splice_donor_variant,,ENST00000491846,;ARTN,splice_donor_variant,,ENST00000498139,NM_001136215.1;ARTN,synonymous_variant,p.Gly75=,ENST00000479128,;ARTN,synonymous_variant,p.Gly75=,ENST00000472435,;ARTN,downstream_gene_variant,,ENST00000471394,;ARTN,downstream_gene_variant,,ENST00000477048,;,regulatory_region_variant,,ENSR00000251520,; G ENSG00000117407 ENST00000414809 Transcript splice_donor_variant 1 1 ARTN HGNC HGNC:727 protein_coding YES CCDS502.1 ENSP00000387435 Q5T4W7 UPI00001AFA84 NM_057090.2 4/4 HIGH 1 SNV 3 PASS GTA . . 43936233 SLC6A9 . GRCh38 chr1 44031307 44031307 + Splice_Region SNP A A C novel 7316-487 BS_3C702XH4 A A c.-87T>G ENST00000372310 1/14 74 46 12 21 21 0 SLC6A9,splice_region_variant,,ENST00000372310,NM_001024845.2,NM_001328629.1;SLC6A9,splice_region_variant,,ENST00000372306,;SLC6A9,splice_region_variant,,ENST00000475075,;SLC6A9,splice_region_variant,,ENST00000466926,;AL139220.2,intron_variant,,ENST00000623351,;AL139220.2,intron_variant,,ENST00000624869,;AL139220.2,upstream_gene_variant,,ENST00000607988,;SLC6A9,splice_region_variant,,ENST00000492434,;SLC6A9,splice_region_variant,,ENST00000489764,;,regulatory_region_variant,,ENSR00000005689,; C ENSG00000196517 ENST00000372310 Transcript splice_region_variant,5_prime_UTR_variant 80/3130 1 -1 SLC6A9 HGNC HGNC:11056 protein_coding CCDS30695.1 ENSP00000361384 P48067 UPI0000204F05 NM_001024845.2,NM_001328629.1 1/14 LOW SNV 5 1 PASS CAT . . 44031307 BEST4 . GRCh38 chr1 44784299 44784299 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.1333T>G p.Phe445Val p.F445V ENST00000372207 9/9 95 71 18 47 46 0 BEST4,missense_variant,p.Phe445Val,ENST00000372207,NM_153274.2;,regulatory_region_variant,,ENSR00000005793,;RPS15AP11,upstream_gene_variant,,ENST00000594193,;,TF_binding_site_variant,,MA0062.2,;,TF_binding_site_variant,,MA0062.1,; C ENSG00000142959 ENST00000372207 Transcript missense_variant 1333/2047 1333/1422 445/473 F/V Ttc/Gtc 1 -1 BEST4 HGNC HGNC:17106 protein_coding YES CCDS514.1 ENSP00000361281 Q8NFU0 UPI000006D85E NM_153274.2 tolerated_low_confidence(0.5) benign(0) 9/9 mobidb-lite,hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF3 MODERATE 1 SNV 1 PASS AAG . . 44784299 PLK3 . GRCh38 chr1 44800482 44800482 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.19T>G p.Phe7Val p.F7V ENST00000372201 1/15 103 86 13 41 40 0 PLK3,missense_variant,p.Phe7Val,ENST00000372201,NM_004073.3;PLK3,non_coding_transcript_exon_variant,,ENST00000465443,;PLK3,upstream_gene_variant,,ENST00000461358,;PLK3,upstream_gene_variant,,ENST00000461769,;PLK3,upstream_gene_variant,,ENST00000476731,;PLK3,upstream_gene_variant,,ENST00000492398,;PLK3,upstream_gene_variant,,ENST00000493100,;,regulatory_region_variant,,ENSR00000005798,; G ENSG00000173846 ENST00000372201 Transcript missense_variant 258/2492 19/1941 7/646 F/V Ttc/Gtc 1 1 PLK3 HGNC HGNC:2154 protein_coding YES CCDS515.1 ENSP00000361275 Q9H4B4 UPI000013ED1D NM_004073.3 tolerated_low_confidence(0.46) benign(0) 1/15 mobidb-lite,hmmpanther:PTHR24345,hmmpanther:PTHR24345:SF42 MODERATE 1 SNV 1 PASS TTT . . 44800482 DMBX1 . GRCh38 chr1 46512113 46512113 + Nonsense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.753T>G p.Tyr251Ter p.Y251* ENST00000360032 4/4 97 84 12 29 29 0 DMBX1,stop_gained,p.Tyr256Ter,ENST00000371956,NM_147192.2;DMBX1,stop_gained,p.Tyr251Ter,ENST00000360032,NM_172225.1; G ENSG00000197587 ENST00000360032 Transcript stop_gained 767/2880 753/1134 251/377 Y/* taT/taG 1 1 DMBX1 HGNC HGNC:19026 protein_coding YES CCDS536.1 ENSP00000353132 Q8NFW5 UPI0000070B63 NM_172225.1 4/4 Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF319,hmmpanther:PTHR24329 HIGH 1 SNV 1 PASS ATT . . 46512113 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 72 40 16 27 26 0 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 TAL1 . GRCh38 chr1 47225536 47225536 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.353T>G p.Met118Arg p.M118R ENST00000294339 2/4 123 106 12 34 32 0 TAL1,missense_variant,p.Met118Arg,ENST00000294339,NM_003189.5,NM_001290403.1,NM_001290405.1;TAL1,missense_variant,p.Met118Arg,ENST00000371884,NM_001287347.2,NM_001290404.1;AL135960.1,upstream_gene_variant,,ENST00000422216,;TAL1,intron_variant,,ENST00000464796,;TAL1,upstream_gene_variant,,ENST00000459729,;TAL1,downstream_gene_variant,,ENST00000465912,;TAL1,downstream_gene_variant,,ENST00000481091,;,regulatory_region_variant,,ENSR00000006030,; C ENSG00000162367 ENST00000294339 Transcript missense_variant 930/5001 353/996 118/331 M/R aTg/aGg 1 -1 TAL1 HGNC HGNC:11556 protein_coding YES CCDS547.1 ENSP00000294339 P17542 UPI00001368B2 NM_003189.5,NM_001290403.1,NM_001290405.1 tolerated(0.11) possibly_damaging(0.737) 2/4 hmmpanther:PTHR13864:SF16,hmmpanther:PTHR13864 MODERATE 1 SNV 1 1 PASS CAT . . 47225536 SNX27 . GRCh38 chr1 151612299 151612299 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.98A>C p.Asn33Thr p.N33T ENST00000458013 1/12 129 113 15 55 55 0 SNX27,missense_variant,p.Asn33Thr,ENST00000368843,NM_030918.5;SNX27,missense_variant,p.Asn33Thr,ENST00000458013,NM_001330723.1;SNX27,missense_variant,p.Asn33Thr,ENST00000642376,;AL391335.1,non_coding_transcript_exon_variant,,ENST00000504583,;SNX27,upstream_gene_variant,,ENST00000642582,;SNX27,upstream_gene_variant,,ENST00000644970,;SNX27,missense_variant,p.Asn33Thr,ENST00000368841,;SNX27,missense_variant,p.Asn33Thr,ENST00000642479,;SNX27,upstream_gene_variant,,ENST00000642349,;SNX27,upstream_gene_variant,,ENST00000643179,;SNX27,upstream_gene_variant,,ENST00000643814,;,regulatory_region_variant,,ENSR00000013644,; C ENSG00000143376 ENST00000458013 Transcript missense_variant 218/6403 98/1626 33/541 N/T aAc/aCc 1 1 SNX27 HGNC HGNC:20073 protein_coding YES CCDS81377.1 ENSP00000400333 Q96L92 UPI000004EDFB NM_001330723.1 tolerated_low_confidence(0.62) benign(0) 1/12 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:2.30.42.10 MODERATE SNV 5 PASS AAC . . 151612299 TCHH . GRCh38 chr1 152108243 152108243 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.4974A>C p.Glu1658Asp p.E1658D ENST00000614923 3/3 82 64 9 23 23 0 TCHH,missense_variant,p.Glu1658Asp,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Glu1658Asp,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 5069/6995 4974/5832 1658/1943 E/D gaA/gaC 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.09) benign(0.025) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34855,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS GTT . . 152108243 IVL . GRCh38 chr1 152910987 152910987 + Missense_Mutation SNP T T A rs200245608 7316-487 BS_3C702XH4 T T c.1190T>A p.Val397Glu p.V397E ENST00000368764 2/2 97 83 11 46 45 0 IVL,missense_variant,p.Val397Glu,ENST00000368764,NM_005547.2; A ENSG00000163207 ENST00000368764 Transcript missense_variant 1254/2153 1190/1758 397/585 V/E gTg/gAg rs200245608,COSM4142713 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated_low_confidence(1) benign(0) 2/2 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00904,mobidb-lite 0,1 MODERATE 1 SNV 2 0,1 PASS GTG . . 0.0001481 0.0002578 0.0002738 0.0008951 6.468e-05 0.0001676 152910987 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 110 90 16 50 50 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 METTL13 . GRCh38 chr1 171782043 171782043 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.76A>C p.Lys26Gln p.K26Q ENST00000361735 1/8 85 76 8 43 42 0 METTL13,missense_variant,p.Lys26Gln,ENST00000361735,NM_015935.4;METTL13,missense_variant,p.Lys26Gln,ENST00000367737,NM_001007239.1;METTL13,intron_variant,,ENST00000362019,NM_014955.2;METTL13,non_coding_transcript_exon_variant,,ENST00000485629,;,regulatory_region_variant,,ENSR00000015716,; C ENSG00000010165 ENST00000361735 Transcript missense_variant 342/3327 76/2100 26/699 K/Q Aag/Cag 1 1 METTL13 HGNC HGNC:24248 protein_coding YES CCDS1299.1 ENSP00000354920 Q8N6R0 C4B4C6 UPI000006DE3D NM_015935.4 tolerated(0.33) benign(0.001) 1/8 hmmpanther:PTHR12176,Gene3D:3.40.50.150,Superfamily_domains:SSF53335 MODERATE 1 SNV 1 PASS AAA . . 171782043 KIAA1614 . GRCh38 chr1 180935264 180935264 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1355T>G p.Phe452Cys p.F452C ENST00000367588 5/9 119 103 13 44 44 0 KIAA1614,missense_variant,p.Phe452Cys,ENST00000367588,NM_020950.1;KIAA1614,missense_variant,p.Phe73Cys,ENST00000367587,;KIAA1614,intron_variant,,ENST00000483705,; G ENSG00000135835 ENST00000367588 Transcript missense_variant 1410/9654 1355/3573 452/1190 F/C tTt/tGt 1 1 KIAA1614 HGNC HGNC:29327 protein_coding YES CCDS41442.1 ENSP00000356560 Q5VZ46 UPI00001C1D75 NM_020950.1 deleterious(0) probably_damaging(1) 5/9 mobidb-lite,hmmpanther:PTHR45150,Pfam_domain:PF15737 MODERATE 1 SNV 1 PASS TTT . . 180935264 MAPKAPK2 . GRCh38 chr1 206685419 206685419 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.190A>C p.Lys64Gln p.K64Q ENST00000367103 1/10 62 51 7 44 44 0 MAPKAPK2,missense_variant,p.Lys64Gln,ENST00000367103,NM_032960.3;MAPKAPK2,missense_variant,p.Lys64Gln,ENST00000294981,NM_004759.4;DYRK3,downstream_gene_variant,,ENST00000489878,;,regulatory_region_variant,,ENSR00000019020,; C ENSG00000162889 ENST00000367103 Transcript missense_variant 383/2961 190/1203 64/400 K/Q Aag/Cag 1 1 MAPKAPK2 HGNC HGNC:6887 protein_coding YES CCDS31001.1 ENSP00000356070 P49137 UPI0000112289 NM_032960.3 tolerated(0.27) benign(0.01) 1/10 Gene3D:3.30.200.20,PROSITE_profiles:PS50011,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF63,SMART_domains:SM00220,Superfamily_domains:SSF56112,cd14170 MODERATE 1 SNV 1 PASS CAA . . 206685419 BATF3 . GRCh38 chr1 212699701 212699701 + Missense_Mutation SNP T T G rs888365358 7316-487 BS_3C702XH4 T T c.62A>C p.Asn21Thr p.N21T ENST00000243440 1/3 79 58 11 24 24 0 BATF3,missense_variant,p.Asn21Thr,ENST00000243440,NM_018664.2;BATF3,upstream_gene_variant,,ENST00000478275,;,regulatory_region_variant,,ENSR00000019755,; G ENSG00000123685 ENST00000243440 Transcript missense_variant 285/980 62/384 21/127 N/T aAc/aCc rs888365358 1 -1 BATF3 HGNC HGNC:28915 protein_coding YES CCDS1508.1 ENSP00000243440 Q9NR55 UPI000006F080 NM_018664.2 tolerated_low_confidence(0.19) benign(0.054) 1/3 hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF13,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 212699701 SMYD2 . GRCh38 chr1 214281255 214281255 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.1A>C p.Met1? p.M1? ENST00000366957 1/12 81 69 9 46 45 1 SMYD2,start_lost,p.Met1?,ENST00000366957,NM_020197.2;SMYD2,non_coding_transcript_exon_variant,,ENST00000491455,;SMYD2,non_coding_transcript_exon_variant,,ENST00000460580,;SMYD2,non_coding_transcript_exon_variant,,ENST00000471645,;,regulatory_region_variant,,ENSR00000019865,; C ENSG00000143499 ENST00000366957 Transcript start_lost 23/1671 1/1302 1/433 M/L Atg/Ctg 1 1 SMYD2 HGNC HGNC:20982 protein_coding YES CCDS31022.1 ENSP00000355924 Q9NRG4 UPI0000205E5F NM_020197.2 deleterious_low_confidence(0) benign(0.047) 1/12 hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF193 HIGH 1 SNV 1 PASS CAT . . 214281255 ABCB10 . GRCh38 chr1 229558301 229558301 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.352T>G p.Phe118Val p.F118V ENST00000344517 1/13 106 91 13 44 44 0 ABCB10,missense_variant,p.Phe118Val,ENST00000344517,NM_012089.2;,regulatory_region_variant,,ENSR00000021492,; C ENSG00000135776 ENST00000344517 Transcript missense_variant 395/3857 352/2217 118/738 F/V Ttc/Gtc 1 -1 ABCB10 HGNC HGNC:41 protein_coding YES CCDS1580.1 ENSP00000355637 Q9NRK6 UPI000013CFBF NM_012089.2 tolerated_low_confidence(0.09) benign(0) 1/13 PDB-ENSP_mappings:4ayw.A,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 229558301 EGLN1 . GRCh38 chr1 231421667 231421667 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.222T>G p.His74Gln p.H74Q ENST00000366641 1/5 71 59 11 30 29 0 EGLN1,missense_variant,p.His74Gln,ENST00000366641,NM_022051.2;EGLN1,upstream_gene_variant,,ENST00000476717,;,regulatory_region_variant,,ENSR00000021720,; C ENSG00000135766 ENST00000366641 Transcript missense_variant 3378/7097 222/1281 74/426 H/Q caT/caG 1 -1 EGLN1 HGNC HGNC:1232 protein_coding YES CCDS1595.1 ENSP00000355601 Q9GZT9 R4SCQ0 UPI0000050C90 NM_022051.2 tolerated(0.71) benign(0) 1/5 mobidb-lite,hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF4,Gene3D:3.90.1410.10 MODERATE 1 SNV 1 1 PASS AAT . . 231421667 ALKAL2 . GRCh38 chr2 287789 287789 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.47T>G p.Leu16Arg p.L16R ENST00000403610 2/6 103 82 14 44 44 0 ALKAL2,missense_variant,p.Leu16Arg,ENST00000403610,NM_001002919.2;ALKAL2,missense_variant,p.Leu16Arg,ENST00000452023,;ALKAL2,missense_variant,p.Leu16Arg,ENST00000619265,;ALKAL2,upstream_gene_variant,,ENST00000344414,;ALKAL2,upstream_gene_variant,,ENST00000401489,;ALKAL2,upstream_gene_variant,,ENST00000401503,;ALKAL2,upstream_gene_variant,,ENST00000405290,;AC079779.2,intron_variant,,ENST00000427831,;AC079779.2,downstream_gene_variant,,ENST00000450709,;ALKAL2,upstream_gene_variant,,ENST00000463919,;,regulatory_region_variant,,ENSR00000289385,; C ENSG00000189292 ENST00000403610 Transcript missense_variant 388/1389 47/459 16/152 L/R cTg/cGg 1 -1 ALKAL2 HGNC HGNC:27683 protein_coding YES CCDS46218.1 ENSP00000384604 Q6UX46 UPI000003ED28 NM_001002919.2 deleterious(0) probably_damaging(0.943) 2/6 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR28676,hmmpanther:PTHR28676:SF2 MODERATE 1 SNV 1 PASS CAG . . 287789 KLF11 . GRCh38 chr2 10043760 10043760 + Splice_Site SNP T T G rs777171582 7316-487 BS_3C702XH4 T T c.42+2T>G p.X14_splice ENST00000305883 68 53 11 51 50 0 KLF11,splice_donor_variant,,ENST00000305883,NM_003597.4;KLF11,intron_variant,,ENST00000401510,;KLF11,upstream_gene_variant,,ENST00000440320,;KLF11,upstream_gene_variant,,ENST00000448523,;KLF11,upstream_gene_variant,,ENST00000535335,NM_001177718.1;KLF11,upstream_gene_variant,,ENST00000540845,NM_001177716.1;AC104794.2,upstream_gene_variant,,ENST00000567540,;,regulatory_region_variant,,ENSR00000112713,; G ENSG00000172059 ENST00000305883 Transcript splice_donor_variant rs777171582 1 1 KLF11 HGNC HGNC:11811 protein_coding YES CCDS1668.1 ENSP00000307023 O14901 Q53QU8 UPI000012DEDA NM_003597.4 1/3 HIGH 1 SNV 1 1 PASS GTG . . 1.061e-05 5.307e-05 10043760 CYS1 . GRCh38 chr2 10080135 10080135 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.89T>G p.Leu30Arg p.L30R ENST00000381813 1/3 114 90 15 40 39 0 CYS1,missense_variant,p.Leu30Arg,ENST00000381813,NM_001037160.2;AC104794.1,upstream_gene_variant,,ENST00000425235,;CYS1,intron_variant,,ENST00000477304,;,regulatory_region_variant,,ENSR00000112720,; C ENSG00000205795 ENST00000381813 Transcript missense_variant 277/2738 89/477 30/158 L/R cTg/cGg 1 -1 CYS1 HGNC HGNC:18525 protein_coding YES CCDS33145.1 ENSP00000371234 Q717R9 UPI00001D6281 NM_001037160.2 tolerated_low_confidence(0.09) benign(0.102) 1/3 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 10080135 UCN . GRCh38 chr2 27307759 27307759 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.137A>C p.Asn46Thr p.N46T ENST00000296099 2/2 102 88 13 49 49 0 UCN,missense_variant,p.Asn46Thr,ENST00000296099,NM_003353.3;MPV17,downstream_gene_variant,,ENST00000233545,;TRIM54,downstream_gene_variant,,ENST00000296098,NM_032546.3;MPV17,downstream_gene_variant,,ENST00000357186,;MPV17,downstream_gene_variant,,ENST00000380044,NM_002437.4;TRIM54,downstream_gene_variant,,ENST00000380075,NM_187841.2;MPV17,downstream_gene_variant,,ENST00000402310,;MPV17,downstream_gene_variant,,ENST00000402722,;MPV17,downstream_gene_variant,,ENST00000403262,;MPV17,downstream_gene_variant,,ENST00000405076,;MPV17,downstream_gene_variant,,ENST00000405983,;MPV17,downstream_gene_variant,,ENST00000428910,;MPV17,downstream_gene_variant,,ENST00000430991,;MPV17,downstream_gene_variant,,ENST00000620797,;MPV17,downstream_gene_variant,,ENST00000415514,;MPV17,downstream_gene_variant,,ENST00000426513,;MPV17,downstream_gene_variant,,ENST00000475085,;TRIM54,downstream_gene_variant,,ENST00000485306,;TRIM54,downstream_gene_variant,,ENST00000488321,;MPV17,downstream_gene_variant,,ENST00000616446,;MPV17,downstream_gene_variant,,ENST00000616707,;MPV17,downstream_gene_variant,,ENST00000617583,;MPV17,downstream_gene_variant,,ENST00000621183,;MPV17,downstream_gene_variant,,ENST00000621470,;MPV17,downstream_gene_variant,,ENST00000622003,; G ENSG00000163794 ENST00000296099 Transcript missense_variant 436/795 137/375 46/124 N/T aAc/aCc 1 -1 UCN HGNC HGNC:12516 protein_coding YES CCDS1747.1 ENSP00000296099 P55089 UPI000003284B NM_003353.3 tolerated_low_confidence(0.15) benign(0) 2/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15035:SF11,hmmpanther:PTHR15035 MODERATE 1 SNV 1 PASS GTT . . 27307759 ZFP36L2 . GRCh38 chr2 43224886 43224886 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.918T>G p.Cys306Trp p.C306W ENST00000282388 2/2 91 75 14 32 30 0 ZFP36L2,missense_variant,p.Cys306Trp,ENST00000282388,NM_006887.4;LINC01126,upstream_gene_variant,,ENST00000623515,;AC010883.1,upstream_gene_variant,,ENST00000423354,;,regulatory_region_variant,,ENSR00000116141,; C ENSG00000152518 ENST00000282388 Transcript missense_variant 1212/3696 918/1485 306/494 C/W tgT/tgG 1 -1 ZFP36L2 HGNC HGNC:1108 protein_coding YES CCDS1811.1 ENSP00000282388 P47974 UPI000013DCDA NM_006887.4 deleterious(0.02) possibly_damaging(0.712) 2/2 hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF100,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 43224886 SPTBN1 . GRCh38 chr2 54456524 54456524 + Splice_Region SNP T T G novel 7316-487 BS_3C702XH4 T T c.-48+6T>G ENST00000356805 95 67 12 43 43 0 SPTBN1,splice_region_variant,,ENST00000356805,NM_003128.2;SPTBN1,splice_region_variant,,ENST00000615901,;SPTBN1,upstream_gene_variant,,ENST00000389980,;,regulatory_region_variant,,ENSR00000290971,; G ENSG00000115306 ENST00000356805 Transcript splice_region_variant,intron_variant 1 1 SPTBN1 HGNC HGNC:11275 protein_coding YES CCDS33198.1 ENSP00000349259 Q01082 B2ZZ89 UPI0000DBEE4B NM_003128.2 1/35 LOW 1 SNV 1 PASS GTA . . 54456524 CNNM3 . GRCh38 chr2 96817095 96817095 + Missense_Mutation SNP T T G rs1256213841 7316-487 BS_3C702XH4 T T c.818T>G p.Val273Gly p.V273G ENST00000305510 1/8 85 68 8 34 33 0 CNNM3,missense_variant,p.Val273Gly,ENST00000305510,NM_017623.4;CNNM3,missense_variant,p.Val273Gly,ENST00000377060,NM_199078.2;CNNM3-DT,upstream_gene_variant,,ENST00000608609,;,regulatory_region_variant,,ENSR00000120327,; G ENSG00000168763 ENST00000305510 Transcript missense_variant 846/3447 818/2124 273/707 V/G gTg/gGg rs1256213841 1 1 CNNM3 HGNC HGNC:104 protein_coding YES CCDS2025.1 ENSP00000305449 Q8NE01 UPI000006CEA7 NM_017623.4 deleterious(0) probably_damaging(0.942) 1/8 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF27 MODERATE 1 SNV 1 PASS GTG . . 96817095 KIAA1211L . GRCh38 chr2 98822838 98822838 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1435A>C p.Ile479Leu p.I479L ENST00000397899 7/10 106 98 8 41 40 0 KIAA1211L,missense_variant,p.Ile479Leu,ENST00000397899,NM_207362.2;KIAA1211L,downstream_gene_variant,,ENST00000423771,;KIAA1211L,downstream_gene_variant,,ENST00000462314,;KIAA1211L,upstream_gene_variant,,ENST00000464413,;,regulatory_region_variant,,ENSR00000120511,; G ENSG00000196872 ENST00000397899 Transcript missense_variant 1767/3907 1435/2889 479/962 I/L Att/Ctt 1 -1 KIAA1211L HGNC HGNC:33454 protein_coding YES CCDS42720.1 ENSP00000380996 Q6NV74 UPI0000E59245 NM_207362.2 tolerated(0.36) benign(0.001) 7/10 hmmpanther:PTHR45017,mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 98822838 LIMS2 . GRCh38 chr2 127664348 127664348 + Missense_Mutation SNP T T G rs1310399496 7316-487 BS_3C702XH4 T T c.41A>C p.Tyr14Ser p.Y14S ENST00000324938 1/10 116 100 13 30 30 0 LIMS2,missense_variant,p.Tyr14Ser,ENST00000324938,NM_017980.4;LIMS2,intron_variant,,ENST00000355119,NM_001161403.1;LIMS2,intron_variant,,ENST00000409455,;LIMS2,intron_variant,,ENST00000409808,;LIMS2,intron_variant,,ENST00000410011,NM_001161404.1;LIMS2,intron_variant,,ENST00000545738,NM_001136037.2;LIMS2,non_coding_transcript_exon_variant,,ENST00000466410,;LIMS2,non_coding_transcript_exon_variant,,ENST00000476932,;,regulatory_region_variant,,ENSR00000122901,; G ENSG00000072163 ENST00000324938 Transcript missense_variant 199/2111 41/1098 14/365 Y/S tAc/tCc rs1310399496 1 -1 LIMS2 HGNC HGNC:16084 protein_coding YES CCDS2147.1 ENSP00000326888 Q7Z4I7 UPI00001B5BF3 NM_017980.4 tolerated_low_confidence(0.14) benign(0.037) 1/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTA . . 127664348 SP5 . GRCh38 chr2 170716918 170716918 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.711A>C p.Gln237His p.Q237H ENST00000375281 2/2 104 87 14 45 44 1 SP5,missense_variant,p.Gln237His,ENST00000375281,NM_001003845.2;LINC01124,upstream_gene_variant,,ENST00000409786,;SP5,downstream_gene_variant,,ENST00000487037,;,regulatory_region_variant,,ENSR00000126115,; C ENSG00000204335 ENST00000375281 Transcript missense_variant 873/2033 711/1197 237/398 Q/H caA/caC 1 1 SP5 HGNC HGNC:14529 protein_coding YES CCDS33322.1 ENSP00000364430 Q6BEB4 UPI000015C8D6 NM_001003845.2 tolerated(0.1) benign(0.047) 2/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF29 MODERATE 1 SNV 1 PASS AAA . . 170716918 HOXD9 . GRCh38 chr2 176123144 176123144 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.376T>G p.Phe126Val p.F126V ENST00000249499 1/2 115 97 16 49 48 0 HOXD9,missense_variant,p.Phe126Val,ENST00000249499,NM_014213.3;HOXD10,downstream_gene_variant,,ENST00000249501,NM_002148.3;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD10,downstream_gene_variant,,ENST00000490088,;HOXD10,downstream_gene_variant,,ENST00000549469,;,regulatory_region_variant,,ENSR00000126745,; G ENSG00000128709 ENST00000249499 Transcript missense_variant 425/1870 376/1059 126/352 F/V Ttc/Gtc 1 1 HOXD9 HGNC HGNC:5140 protein_coding YES CCDS2267.2 ENSP00000249499 P28356 UPI000004A10E NM_014213.3 deleterious(0.05) benign(0.103) 1/2 Low_complexity_(Seg):seg,mobidb-lite,Pfam_domain:PF04617,hmmpanther:PTHR24326:SF113,hmmpanther:PTHR24326 MODERATE 1 SNV 1 PASS CTT . . 176123144 NBEAL1 . GRCh38 chr2 203014981 203014981 + Splice_Region SNP A A C novel 7316-487 BS_3C702XH4 A A c.-231A>C ENST00000449802 1/55 93 73 15 37 37 0 NBEAL1,splice_region_variant,,ENST00000449802,NM_001114132.1;NBEAL1,splice_region_variant,,ENST00000478884,;WDR12,upstream_gene_variant,,ENST00000477723,;NBEAL1,upstream_gene_variant,,ENST00000492870,;NBEAL1,splice_region_variant,,ENST00000497505,;NBEAL1,upstream_gene_variant,,ENST00000460416,;,regulatory_region_variant,,ENSR00000128994,; C ENSG00000144426 ENST00000449802 Transcript splice_region_variant,5_prime_UTR_variant 103/10938 1 1 NBEAL1 HGNC HGNC:20681 protein_coding YES CCDS46495.1 ENSP00000399903 Q6ZS30 UPI000194EC27 NM_001114132.1 1/55 LOW 1 SNV 5 PASS AAT . . 203014981 CRYBA2 . GRCh38 chr2 218993140 218993140 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.37A>C p.Ser13Arg p.S13R ENST00000295728 1/4 88 77 9 50 50 0 CRYBA2,missense_variant,p.Ser13Arg,ENST00000295728,NM_057093.1;CRYBA2,missense_variant,p.Ser13Arg,ENST00000392096,NM_057094.1;CRYBA2,missense_variant,p.Ser13Arg,ENST00000453769,;LINC00608,downstream_gene_variant,,ENST00000627043,;CRYBA2,upstream_gene_variant,,ENST00000487181,;CRYBA2,non_coding_transcript_exon_variant,,ENST00000490678,;CRYBA2,upstream_gene_variant,,ENST00000496566,;,regulatory_region_variant,,ENSR00000130486,; G ENSG00000163499 ENST00000295728 Transcript missense_variant 274/893 37/594 13/197 S/R Agc/Cgc 1 -1 CRYBA2 HGNC HGNC:2395 protein_coding YES CCDS2429.1 ENSP00000295728 P53672 A0A024R429 UPI0000000C76 NM_057093.1 tolerated(0.21) benign(0.003) 1/4 Gene3D:2.60.20.10,PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF7,SMART_domains:SM00247,Superfamily_domains:SSF49695,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTG . . 218993140 OBSL1 . GRCh38 chr2 219551753 219551753 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.5459T>G p.Val1820Gly p.V1820G ENST00000404537 20/21 92 70 20 48 46 0 OBSL1,missense_variant,p.Val1820Gly,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Val1728Gly,ENST00000373876,;TMEM198,downstream_gene_variant,,ENST00000344458,NM_001303098.1;TMEM198,downstream_gene_variant,,ENST00000373883,NM_001005209.2;TMEM198,downstream_gene_variant,,ENST00000421791,;TMEM198,downstream_gene_variant,,ENST00000451952,;OBSL1,downstream_gene_variant,,ENST00000456147,;OBSL1,downstream_gene_variant,,ENST00000603926,NM_001173431.1;OBSL1,downstream_gene_variant,,ENST00000604031,;MIR3132,upstream_gene_variant,,ENST00000581997,;AC009955.3,upstream_gene_variant,,ENST00000596829,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,non_coding_transcript_exon_variant,,ENST00000489804,;OBSL1,non_coding_transcript_exon_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000472388,;OBSL1,downstream_gene_variant,,ENST00000596474,; C ENSG00000124006 ENST00000404537 Transcript missense_variant 5516/5841 5459/5691 1820/1896 V/G gTt/gGt 1 -1 OBSL1 HGNC HGNC:29092 protein_coding YES CCDS46520.1 ENSP00000385636 O75147 UPI0000E07EA0 NM_015311.2 tolerated(0.25) probably_damaging(0.928) 20/21 PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF30,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 1 PASS AAC . . 219551753 EDEM1 . GRCh38 chr3 5188101 5188101 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.296A>C p.Asn99Thr p.N99T ENST00000256497 1/12 110 98 9 38 38 0 EDEM1,missense_variant,p.Asn99Thr,ENST00000256497,NM_014674.2;EDEM1,upstream_gene_variant,,ENST00000445686,;AC026202.3,non_coding_transcript_exon_variant,,ENST00000600805,;AC026202.2,upstream_gene_variant,,ENST00000439325,;EDEM1,3_prime_UTR_variant,,ENST00000443790,;EDEM1,non_coding_transcript_exon_variant,,ENST00000465369,;EDEM1,non_coding_transcript_exon_variant,,ENST00000465187,;EDEM1,intron_variant,,ENST00000434243,;,regulatory_region_variant,,ENSR00000147999,; C ENSG00000134109 ENST00000256497 Transcript missense_variant 429/6146 296/1974 99/657 N/T aAc/aCc 1 1 EDEM1 HGNC HGNC:18967 protein_coding YES CCDS33686.1 ENSP00000256497 Q92611 A0A024R2D5 UPI0000040633 NM_014674.2 tolerated_low_confidence(0.32) benign(0) 1/12 MODERATE 1 SNV 1 PASS AAC . . 5188101 SRGAP3 . GRCh38 chr3 8985650 8985650 + Missense_Mutation SNP T T G rs1220945618 7316-487 BS_3C702XH4 T T c.3169A>C p.Met1057Leu p.M1057L ENST00000383836 22/22 88 65 11 38 35 1 SRGAP3,missense_variant,p.Met1057Leu,ENST00000383836,NM_014850.3;SRGAP3,missense_variant,p.Met1033Leu,ENST00000360413,NM_001033117.2; G ENSG00000196220 ENST00000383836 Transcript missense_variant 3597/8656 3169/3300 1057/1099 M/L Atg/Ctg rs1220945618 1 -1 SRGAP3 HGNC HGNC:19744 protein_coding YES CCDS2572.1 ENSP00000373347 O43295 UPI0000074099 NM_014850.3 tolerated_low_confidence(1) benign(0) 22/22 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15 MODERATE 1 SNV 1 1 PASS ATG . . 8985650 FANCD2 . GRCh38 chr3 10046582 10046582 + Splice_Region SNP G G T rs72492997 7316-487 BS_3C702XH4 G G c.1137G>T p.Val379= p.V379= ENST00000287647 15/43 94 78 16 46 45 0 FANCD2,splice_region_variant,p.Val379=,ENST00000287647,NM_033084.4;FANCD2,splice_region_variant,p.Val379=,ENST00000419585,NM_001319984.1;FANCD2,splice_region_variant,p.Val379=,ENST00000383807,NM_001018115.2;FANCD2,splice_region_variant,,ENST00000483276,;FANCD2,non_coding_transcript_exon_variant,,ENST00000464934,;FANCD2,upstream_gene_variant,,ENST00000421731,; T ENSG00000144554 ENST00000287647 Transcript splice_region_variant,synonymous_variant 1230/5219 1137/4416 379/1471 V gtG/gtT rs72492997,COSM4157095,COSM4157094 1 1 FANCD2 HGNC HGNC:3585 protein_coding YES CCDS2595.1 ENSP00000287647 Q9BXW9 UPI000006F678 NM_033084.4 15/43 cd11721,hmmpanther:PTHR32086,Pfam_domain:PF14631 0,1,1 LOW 1 SNV 1 1,1,1 1 PASS TGT . . 0.141 0.1827 0.04397 0.07289 0.06987 0.3016 0.1901 0.1017 0.05424 10046582 HDAC11 . GRCh38 chr3 13480349 13480349 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.2T>G p.Met1? p.M1? ENST00000295757 1/10 111 84 12 40 40 0 HDAC11,start_lost,p.Met1?,ENST00000295757,NM_024827.3;HDAC11,start_lost,p.Met1?,ENST00000402271,;HDAC11,start_lost,p.Met1?,ENST00000402259,;HDAC11,start_lost,p.Met1?,ENST00000404040,;HDAC11,start_lost,p.Met1?,ENST00000404548,;HDAC11,splice_region_variant,,ENST00000446613,;HDAC11,5_prime_UTR_variant,,ENST00000405478,;HDAC11,intron_variant,,ENST00000433119,;HDAC11,upstream_gene_variant,,ENST00000405025,;HDAC11,upstream_gene_variant,,ENST00000416248,;HDAC11,upstream_gene_variant,,ENST00000418189,;HDAC11,upstream_gene_variant,,ENST00000434848,;HDAC11,upstream_gene_variant,,ENST00000437379,;HDAC11,upstream_gene_variant,,ENST00000455904,;HDAC11,upstream_gene_variant,,ENST00000522202,NM_001136041.2;HDAC11-AS1,upstream_gene_variant,,ENST00000424112,;HDAC11,splice_region_variant,,ENST00000458642,;HDAC11,start_lost,p.Met1?,ENST00000425430,;HDAC11,upstream_gene_variant,,ENST00000475818,;HDAC11,upstream_gene_variant,,ENST00000487585,;,regulatory_region_variant,,ENSR00000148803,; G ENSG00000163517 ENST00000295757 Transcript start_lost,splice_region_variant 185/2960 2/1044 1/347 M/R aTg/aGg 1 1 HDAC11 HGNC HGNC:19086 protein_coding YES CCDS2615.1 ENSP00000295757 Q96DB2 A0A024R2I1 UPI000012C3A7 NM_024827.3 deleterious_low_confidence(0) benign(0.012) 1/10 HIGH 1 SNV 1 PASS ATG . . 13480349 TMEM158 . GRCh38 chr3 45225975 45225975 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.53T>G p.Val18Gly p.V18G ENST00000503771 1/1 67 52 10 36 35 1 TMEM158,missense_variant,p.Val18Gly,ENST00000503771,NM_015444.2;,regulatory_region_variant,,ENSR00000151685,; C ENSG00000249992 ENST00000503771 Transcript missense_variant 304/1813 53/903 18/300 V/G gTc/gGc 1 -1 TMEM158 HGNC HGNC:30293 protein_coding YES CCDS54573.1 ENSP00000422431 Q8WZ71 UPI0000E5DD5E NM_015444.2 tolerated_low_confidence(0.09) benign(0.006) 1/1 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR38324 MODERATE 1 SNV PASS GAC . . 45225975 COL7A1 . GRCh38 chr3 48569394 48569394 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.7667A>C p.Asn2556Thr p.N2556T ENST00000328333 102/118 90 72 12 56 54 0 COL7A1,missense_variant,p.Asn2556Thr,ENST00000328333,NM_000094.3;COL7A1,downstream_gene_variant,,ENST00000422991,;COL7A1,upstream_gene_variant,,ENST00000470076,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,non_coding_transcript_exon_variant,,ENST00000459756,;COL7A1,non_coding_transcript_exon_variant,,ENST00000467985,;COL7A1,downstream_gene_variant,,ENST00000462475,;COL7A1,upstream_gene_variant,,ENST00000465238,;COL7A1,upstream_gene_variant,,ENST00000466591,;COL7A1,upstream_gene_variant,,ENST00000474432,; G ENSG00000114270 ENST00000328333 Transcript missense_variant 7775/9276 7667/8835 2556/2944 N/T aAt/aCt 1 -1 COL7A1 HGNC HGNC:2214 protein_coding YES CCDS2773.1 ENSP00000332371 Q02388 UPI0000126D20 NM_000094.3 tolerated(0.41) benign(0) 102/118 Gene3D:2.160.20.50,Pfam_domain:PF01391,hmmpanther:PTHR24020,hmmpanther:PTHR24020:SF4,mobidb-lite MODERATE 1 SNV 1 1 PASS ATT . . 48569394 BSN . GRCh38 chr3 49652665 49652665 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.3109A>C p.Ile1037Leu p.I1037L ENST00000296452 5/12 101 77 17 50 49 0 BSN,missense_variant,p.Ile1037Leu,ENST00000296452,NM_003458.3;BSN,downstream_gene_variant,,ENST00000467456,; C ENSG00000164061 ENST00000296452 Transcript missense_variant 3223/15955 3109/11781 1037/3926 I/L Atc/Ctc 1 1 BSN HGNC HGNC:1117 protein_coding YES CCDS2800.1 ENSP00000296452 Q9UPA5 UPI000013E33C NM_003458.3 deleterious(0) possibly_damaging(0.77) 5/12 mobidb-lite,hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113,Gene3D:3.40.50.300 MODERATE 1 SNV 1 PASS CAT . . 49652665 RBM15B . GRCh38 chr3 51391629 51391629 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.230A>C p.Asn77Thr p.N77T ENST00000563281 1/1 103 86 12 46 46 0 RBM15B,missense_variant,p.Asn77Thr,ENST00000563281,NM_013286.4;DCAF1,downstream_gene_variant,,ENST00000423656,NM_014703.2;DCAF1,downstream_gene_variant,,ENST00000504652,NM_001171904.1;MANF,downstream_gene_variant,,ENST00000528157,NM_006010.5;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;,regulatory_region_variant,,ENSR00000152421,; C ENSG00000259956 ENST00000563281 Transcript missense_variant 362/6641 230/2673 77/890 N/T aAt/aCt 1 1 RBM15B HGNC HGNC:24303 protein_coding YES CCDS33764.1 ENSP00000454545 Q8NDT2 UPI0000160BDE NM_013286.4 tolerated(0.18) benign(0.001) 1/1 Gene3D:3.30.70.330,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF40,mobidb-lite MODERATE SNV PASS AAT . . 51391629 LRIG1 . GRCh38 chr3 66500407 66500407 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.1A>C p.Met1? p.M1? ENST00000273261 1/19 97 78 13 44 43 0 LRIG1,start_lost,p.Met1?,ENST00000383703,;LRIG1,start_lost,p.Met1?,ENST00000273261,NM_015541.2;LRIG1,intron_variant,,ENST00000498287,;LRIG1,upstream_gene_variant,,ENST00000475366,;,regulatory_region_variant,,ENSR00000153962,;,TF_binding_site_variant,,MA0095.2,; G ENSG00000144749 ENST00000273261 Transcript start_lost 526/5273 1/3282 1/1093 M/L Atg/Ctg 1 -1 LRIG1 HGNC HGNC:17360 protein_coding YES CCDS33783.1 ENSP00000273261 Q96JA1 UPI000004C5BE NM_015541.2 deleterious_low_confidence(0.05) benign(0) 1/19 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATC . . 66500407 FOXL2 . GRCh38 chr3 138945690 138945690 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.1033T>G p.Phe345Val p.F345V ENST00000330315 1/1 92 76 12 35 35 0 FOXL2,missense_variant,p.Phe345Val,ENST00000330315,NM_023067.3;FOXL2NB,upstream_gene_variant,,ENST00000383165,NM_001040061.2;LINC01391,upstream_gene_variant,,ENST00000477059,;LINC01391,upstream_gene_variant,,ENST00000483650,;LINC01391,upstream_gene_variant,,ENST00000495287,;FOXL2NB,upstream_gene_variant,,ENST00000470680,;FOXL2NB,upstream_gene_variant,,ENST00000498709,;,regulatory_region_variant,,ENSR00000159084,; C ENSG00000183770 ENST00000330315 Transcript missense_variant 1451/2917 1033/1131 345/376 F/V Ttc/Gtc 1 -1 FOXL2 HGNC HGNC:1092 protein_coding YES CCDS3105.1 ENSP00000333188 P58012 Q53ZD3 UPI0000050DB3 NM_023067.3 deleterious_low_confidence(0) possibly_damaging(0.61) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF319 MODERATE SNV 1 PASS AAC . . 138945690 PRR23A . GRCh38 chr3 139005550 139005550 + Missense_Mutation SNP A A C 7316-487 BS_3C702XH4 A A c.719T>G p.Val240Gly p.V240G ENST00000383163 1/1 76 61 11 38 37 0 PRR23A,missense_variant,p.Val240Gly,ENST00000383163,NM_001134659.1;MRPS22,upstream_gene_variant,,ENST00000495075,;,regulatory_region_variant,,ENSR00000306517,; C ENSG00000206260 ENST00000383163 Transcript missense_variant 719/801 719/801 240/266 V/G gTg/gGg COSM4591927 1 -1 PRR23A HGNC HGNC:37172 protein_coding YES CCDS46923.1 ENSP00000372649 A6NEV1 UPI00003671C1 NM_001134659.1 tolerated(0.05) benign(0.154) 1/1 Pfam_domain:PF10630,hmmpanther:PTHR31813,hmmpanther:PTHR31813:SF15,mobidb-lite 1 MODERATE SNV 1 PASS CAC . . 139005550 ATP11B . GRCh38 chr3 182793760 182793760 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.1A>C p.Met1? p.M1? ENST00000323116 1/30 108 85 16 55 54 0 ATP11B,start_lost,p.Met1?,ENST00000323116,NM_014616.2;ATP11B,start_lost,p.Met1?,ENST00000493826,;AC069431.1,upstream_gene_variant,,ENST00000488882,;,regulatory_region_variant,,ENSR00000162738,; C ENSG00000058063 ENST00000323116 Transcript start_lost 261/7325 1/3534 1/1177 M/L Atg/Ctg 1 1 ATP11B HGNC HGNC:13553 protein_coding YES CCDS33896.1 ENSP00000321195 Q9Y2G3 UPI000004124E NM_014616.2 tolerated_low_confidence(0.11) benign(0.267) 1/30 HIGH 1 SNV 2 PASS AAT . . 182793760 VWA5B2 . GRCh38 chr3 184230644 184230644 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.116A>C p.Asn39Thr p.N39T ENST00000426955 1/19 118 95 15 36 35 0 VWA5B2,missense_variant,p.Asn39Thr,ENST00000426955,NM_138345.2;VWA5B2,upstream_gene_variant,,ENST00000273794,NM_001320373.1;VWA5B2,upstream_gene_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000474580,;VWA5B2,upstream_gene_variant,,ENST00000497229,;,regulatory_region_variant,,ENSR00000162897,; C ENSG00000145198 ENST00000426955 Transcript missense_variant 216/4120 116/3729 39/1242 N/T aAc/aCc 1 1 VWA5B2 HGNC HGNC:25144 protein_coding YES CCDS54686.1 ENSP00000398688 Q8N398 UPI0000412DE9 NM_138345.2 deleterious(0) probably_damaging(0.998) 1/19 Pfam_domain:PF13757,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107 MODERATE 1 SNV 1 PASS AAC . . 184230644 MUC4 . GRCh38 chr3 195788396 195788396 + Missense_Mutation SNP T T A novel 7316-487 BS_3C702XH4 T T c.3184A>T p.Thr1062Ser p.T1062S ENST00000463781 2/25 67 53 6 38 35 0 MUC4,missense_variant,p.Thr1062Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr1062Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr1062Ser,ENST00000478156,;MUC4,missense_variant,p.Thr1062Ser,ENST00000466475,;MUC4,missense_variant,p.Thr1062Ser,ENST00000477756,;MUC4,missense_variant,p.Thr1062Ser,ENST00000477086,;MUC4,missense_variant,p.Thr1062Ser,ENST00000480843,;MUC4,missense_variant,p.Thr1062Ser,ENST00000462323,;MUC4,missense_variant,p.Thr1062Ser,ENST00000470451,;MUC4,missense_variant,p.Thr1062Ser,ENST00000479406,;,regulatory_region_variant,,ENSR00000308220,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 3644/17110 3184/16239 1062/5412 T/S Act/Tct 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.81) benign(0.096) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS GTG . . 195788396 RUBCN . GRCh38 chr3 197736698 197736698 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.22A>C p.Met8Leu p.M8L ENST00000296343 1/20 91 67 16 27 26 0 RUBCN,missense_variant,p.Met8Leu,ENST00000296343,NM_014687.2;RUBCN,missense_variant,p.Met8Leu,ENST00000449205,;RUBCN,5_prime_UTR_variant,,ENST00000474214,;RUBCN,intron_variant,,ENST00000273582,NM_001145642.3;FYTTD1,upstream_gene_variant,,ENST00000428738,;RUBCN,intron_variant,,ENST00000467303,;,regulatory_region_variant,,ENSR00000164602,; G ENSG00000145016 ENST00000296343 Transcript missense_variant 22/2919 22/2919 8/972 M/L Atg/Ctg 1 -1 RUBCN HGNC HGNC:28991 protein_coding YES CCDS43195.1 ENSP00000296343 Q92622 UPI00001C1DE4 NM_014687.2 tolerated_low_confidence(0.14) benign(0.003) 1/20 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS ATT . . 197736698 HTT . GRCh38 chr4 3075090 3075090 + Splice_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.263+2T>G p.X88_splice ENST00000355072 109 90 13 35 34 0 HTT,splice_donor_variant,,ENST00000355072,NM_002111.7;HTT-AS,upstream_gene_variant,,ENST00000503893,;RF02135,downstream_gene_variant,,ENST00000621529,;,regulatory_region_variant,,ENSR00000165041,; G ENSG00000197386 ENST00000355072 Transcript splice_donor_variant 1 1 HTT HGNC HGNC:4851 protein_coding YES CCDS43206.1 ENSP00000347184 P42858 UPI000013D567 NM_002111.7 1/66 HIGH 1 SNV 1 1 PASS GTG . . 3075090 AC093323.1 . GRCh38 chr4 6674301 6674301 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.89A>C p.Asn30Thr p.N30T ENST00000635031 1/1 97 82 15 37 37 0 AC093323.1,missense_variant,p.Asn30Thr,ENST00000635031,;LINC02482,upstream_gene_variant,,ENST00000513179,;LINC02482,upstream_gene_variant,,ENST00000515205,;LINC02482,upstream_gene_variant,,ENST00000647523,;AC093323.1,intron_variant,,ENST00000645429,;AC093323.1,missense_variant,p.Asn30Thr,ENST00000307533,;AC093323.1,missense_variant,p.Asn30Thr,ENST00000444232,;,regulatory_region_variant,,ENSR00000165445,; C ENSG00000170846 ENST00000635031 Transcript missense_variant 333/2045 89/360 30/119 N/T aAc/aCc 1 1 AC093323.1 Clone_based_ensembl_gene protein_coding YES ENSP00000493540 B2RBV5 UPI00000723AA deleterious(0) benign(0) 1/1 hmmpanther:PTHR31324,Pfam_domain:PF15155,mobidb-lite MODERATE 1 SNV PASS AAC . . 6674301 SLAIN2 . GRCh38 chr4 48341906 48341906 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.167T>G p.Ile56Ser p.I56S ENST00000264313 1/8 127 109 16 42 41 0 SLAIN2,missense_variant,p.Ile56Ser,ENST00000264313,NM_020846.1;,regulatory_region_variant,,ENSR00000168120,; G ENSG00000109171 ENST00000264313 Transcript missense_variant 585/6299 167/1746 56/581 I/S aTt/aGt 1 1 SLAIN2 HGNC HGNC:29282 protein_coding YES CCDS47051.1 ENSP00000264313 Q9P270 A0A024R9T6 UPI0000074559 NM_020846.1 tolerated(0.6) benign(0) 1/8 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22406,hmmpanther:PTHR22406:SF4 MODERATE 1 SNV 1 PASS ATT . . 48341906 SLC10A4 . GRCh38 chr4 48483814 48483814 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.253T>G p.Phe85Val p.F85V ENST00000273861 1/3 99 77 17 38 38 0 SLC10A4,missense_variant,p.Phe85Val,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168127,; G ENSG00000145248 ENST00000273861 Transcript missense_variant 472/1790 253/1314 85/437 F/V Ttc/Gtc 1 1 SLC10A4 HGNC HGNC:22980 protein_coding YES CCDS3482.1 ENSP00000273861 Q96EP9 UPI000006E8DB NM_152679.3 deleterious(0.02) benign(0) 1/3 hmmpanther:PTHR10361:SF41,hmmpanther:PTHR10361 MODERATE 1 SNV 1 PASS GTT . . 48483814 ZAR1 . GRCh38 chr4 48490862 48490862 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.571A>C p.Thr191Pro p.T191P ENST00000327939 1/4 126 97 12 48 48 0 ZAR1,missense_variant,p.Thr191Pro,ENST00000327939,NM_175619.2;SLC10A4,downstream_gene_variant,,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168128,; C ENSG00000182223 ENST00000327939 Transcript missense_variant 611/1460 571/1275 191/424 T/P Acc/Ccc 1 1 ZAR1 HGNC HGNC:20436 protein_coding YES CCDS3483.1 ENSP00000329803 Q86SH2 UPI000000D8B4 NM_175619.2 deleterious(0.01) benign(0.276) 1/4 hmmpanther:PTHR31054,hmmpanther:PTHR31054:SF6 MODERATE 1 SNV 1 PASS CAC . . 48490862 GRSF1 . GRCh38 chr4 70839616 70839616 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.212T>G p.Val71Gly p.V71G ENST00000254799 1/10 89 73 9 36 36 0 GRSF1,missense_variant,p.Val71Gly,ENST00000254799,NM_002092.3;GRSF1,intron_variant,,ENST00000545193,;GRSF1,upstream_gene_variant,,ENST00000499044,;GRSF1,upstream_gene_variant,,ENST00000502323,NM_001098477.1;GRSF1,upstream_gene_variant,,ENST00000514161,;GRSF1,upstream_gene_variant,,ENST00000508091,;GRSF1,non_coding_transcript_exon_variant,,ENST00000505068,;,regulatory_region_variant,,ENSR00000169026,; C ENSG00000132463 ENST00000254799 Transcript missense_variant 330/6666 212/1443 71/480 V/G gTg/gGg 1 -1 GRSF1 HGNC HGNC:4610 protein_coding YES CCDS47069.1 ENSP00000254799 Q12849 UPI0001838834 NM_002092.3 deleterious_low_confidence(0.05) benign(0.007) 1/10 hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF42 MODERATE 1 SNV 5 PASS CAC . . 70839616 ATOH1 . GRCh38 chr4 93829131 93829131 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.205T>G p.Leu69Val p.L69V ENST00000306011 1/1 109 93 13 42 42 0 ATOH1,missense_variant,p.Leu69Val,ENST00000306011,NM_005172.1;,regulatory_region_variant,,ENSR00000170774,; G ENSG00000172238 ENST00000306011 Transcript missense_variant 379/2212 205/1065 69/354 L/V Ttg/Gtg 1 1 ATOH1 HGNC HGNC:797 protein_coding YES CCDS3638.1 ENSP00000302216 Q92858 UPI0000126231 NM_005172.1 tolerated(0.14) possibly_damaging(0.482) 1/1 hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF82 MODERATE 1 SNV PASS TTT . . 93829131 BMPR1B . GRCh38 chr4 95104535 95104535 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.201T>G p.His67Gln p.H67Q ENST00000440890 2/11 96 82 7 44 43 0 BMPR1B,missense_variant,p.His37Gln,ENST00000515059,NM_001203.2;BMPR1B,missense_variant,p.His67Gln,ENST00000440890,NM_001256793.1;BMPR1B,missense_variant,p.His37Gln,ENST00000394931,;BMPR1B,missense_variant,p.His37Gln,ENST00000264568,NM_001256794.1;BMPR1B,missense_variant,p.His37Gln,ENST00000509540,;BMPR1B,missense_variant,p.His37Gln,ENST00000512312,NM_001256792.1;BMPR1B,missense_variant,p.His37Gln,ENST00000506363,;BMPR1B,missense_variant,p.His37Gln,ENST00000502683,; G ENSG00000138696 ENST00000440890 Transcript missense_variant 222/5388 201/1599 67/532 H/Q caT/caG 1 1 BMPR1B HGNC HGNC:1077 protein_coding YES CCDS58919.1 ENSP00000401907 O00238 UPI00017A7CB9 NM_001256793.1 tolerated(0.08) probably_damaging(0.932) 2/11 Gene3D:2.10.60.10,Pfam_domain:PF01064,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF62,Superfamily_domains:SSF57302 MODERATE 1 SNV 2 1 PASS ATT . . 95104535 SLC39A8 . GRCh38 chr4 102344629 102344629 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.34T>G p.Leu12Val p.L12V ENST00000394833 1/8 100 87 10 43 42 1 SLC39A8,missense_variant,p.Leu12Val,ENST00000424970,NM_001135147.1;SLC39A8,missense_variant,p.Leu12Val,ENST00000394833,NM_022154.5,NM_001135148.1;SLC39A8,missense_variant,p.Leu12Val,ENST00000356736,NM_001135146.1;RN7SL728P,downstream_gene_variant,,ENST00000464718,;SLC39A8,intron_variant,,ENST00000502903,;SLC39A8,intron_variant,,ENST00000510255,;SLC39A8,intron_variant,,ENST00000512657,;SLC39A8,intron_variant,,ENST00000514000,;,regulatory_region_variant,,ENSR00000171303,; C ENSG00000138821 ENST00000394833 Transcript missense_variant 511/3238 34/1383 12/460 L/V Ttg/Gtg 1 -1 SLC39A8 HGNC HGNC:20862 protein_coding YES CCDS3656.1 ENSP00000378310 Q9C0K1 A0A024RDG0 UPI0000046C4E NM_022154.5,NM_001135148.1 tolerated_low_confidence(0.53) benign(0.005) 1/8 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF2 MODERATE 1 SNV 1 1 PASS AAC . . 102344629 SEC24B . GRCh38 chr4 109433927 109433927 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.58T>G p.Phe20Val p.F20V ENST00000504968 1/25 104 81 12 43 43 0 SEC24B,missense_variant,p.Phe20Val,ENST00000265175,NM_006323.4,NM_001318085.1;SEC24B,missense_variant,p.Phe20Val,ENST00000504968,NM_001300813.2;SEC24B,missense_variant,p.Phe20Val,ENST00000399100,NM_001318086.1,NM_001042734.3;SEC24B-AS1,upstream_gene_variant,,ENST00000499359,;SEC24B-AS1,upstream_gene_variant,,ENST00000505895,;SEC24B-AS1,upstream_gene_variant,,ENST00000510971,;,regulatory_region_variant,,ENSR00000171830,; G ENSG00000138802 ENST00000504968 Transcript missense_variant 156/4066 58/3897 20/1298 F/V Ttc/Gtc 1 1 SEC24B HGNC HGNC:10704 protein_coding YES CCDS75179.1 ENSP00000428564 O95487 UPI000189A7A7 NM_001300813.2 tolerated_low_confidence(0.17) benign(0) 1/25 mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 109433927 MGAT4D . GRCh38 chr4 140459629 140459630 + Splice_Region INS - - A rs780471046 7316-487 BS_3C702XH4 - - c.763-4dup ENST00000511113 75 59 9 38 36 0 MGAT4D,splice_region_variant,,ENST00000503109,;MGAT4D,splice_region_variant,,ENST00000511113,NM_001277353.1;MGAT4D,intron_variant,,ENST00000515354,;MGAT4D,upstream_gene_variant,,ENST00000513018,;MGAT4D,intron_variant,,ENST00000511632,;MGAT4D,splice_region_variant,,ENST00000513106,;MGAT4D,splice_region_variant,,ENST00000515121,; A ENSG00000205301 ENST00000511113 Transcript splice_region_variant,intron_variant rs780471046 1 -1 MGAT4D HGNC HGNC:43619 protein_coding YES CCDS64066.1 ENSP00000421185 A6NG13 UPI0001BFFEBB NM_001277353.1 7/10 LOW 1 insertion 5 PASS TGA . . 0.04216 0.025 0.04468 0.05324 0.06075 0.05315 0.03609 0.02222 0.0553 140459629 CTSO . GRCh38 chr4 155953847 155953847 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.1A>C p.Met1? p.M1? ENST00000433477 1/8 89 75 14 42 41 1 CTSO,start_lost,p.Met1?,ENST00000433477,NM_001334.2;,regulatory_region_variant,,ENSR00000175211,; G ENSG00000256043 ENST00000433477 Transcript start_lost 71/2954 1/966 1/321 M/L Atg/Ctg 1 -1 CTSO HGNC HGNC:2542 protein_coding YES CCDS3794.1 ENSP00000414904 P43234 UPI000006232B NM_001334.2 deleterious_low_confidence(0) possibly_damaging(0.661) 1/8 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATT . . 155953847 SAP30 . GRCh38 chr4 173371283 173371283 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.101A>C p.Asn34Thr p.N34T ENST00000296504 1/4 68 57 10 34 34 0 SAP30,missense_variant,p.Asn34Thr,ENST00000296504,NM_003864.3;AC097534.2,upstream_gene_variant,,ENST00000608794,;AC097534.2,upstream_gene_variant,,ENST00000608892,;AC097534.2,upstream_gene_variant,,ENST00000609153,;AC097534.2,upstream_gene_variant,,ENST00000609900,;SAP30,downstream_gene_variant,,ENST00000504618,;,regulatory_region_variant,,ENSR00000176229,; C ENSG00000164105 ENST00000296504 Transcript missense_variant 341/1108 101/663 34/220 N/T aAc/aCc 1 1 SAP30 HGNC HGNC:10532 protein_coding YES CCDS3817.1 ENSP00000296504 O75446 UPI000006F36D NM_003864.3 tolerated_low_confidence(0.28) benign(0.003) 1/4 Low_complexity_(Seg):seg,hmmpanther:PTHR13286,hmmpanther:PTHR13286:SF7 MODERATE 1 SNV 1 PASS AAC . . 173371283 SLC9A3 . GRCh38 chr5 524267 524267 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.56T>G p.Leu19Arg p.L19R ENST00000264938 1/17 101 75 13 45 43 1 SLC9A3,missense_variant,p.Leu19Arg,ENST00000644203,;SLC9A3,missense_variant,p.Leu19Arg,ENST00000264938,NM_004174.3;SLC9A3,missense_variant,p.Leu19Arg,ENST00000514375,NM_001284351.2;AC106772.2,upstream_gene_variant,,ENST00000515085,;,regulatory_region_variant,,ENSR00000177436,; C ENSG00000066230 ENST00000264938 Transcript missense_variant 66/2584 56/2505 19/834 L/R cTg/cGg 1 -1 SLC9A3 HGNC HGNC:11073 protein_coding YES CCDS3855.1 ENSP00000264938 P48764 UPI000013D597 NM_004174.3 tolerated(0.14) benign(0) 1/17 hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,Cleavage_site_(Signalp):SignalP-TM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAG . . 524267 IRX1 . GRCh38 chr5 3596164 3596164 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.59A>C p.Tyr20Ser p.Y20S ENST00000302006 1/4 91 68 17 51 51 0 IRX1,missense_variant,p.Tyr20Ser,ENST00000302006,NM_024337.3;AC016595.1,downstream_gene_variant,,ENST00000559410,; C ENSG00000170549 ENST00000302006 Transcript missense_variant 111/1858 59/1443 20/480 Y/S tAc/tCc 1 1 IRX1 HGNC HGNC:14358 protein_coding YES CCDS34132.1 ENSP00000305244 P78414 UPI00001B6455 NM_024337.3 deleterious(0.01) probably_damaging(0.991) 1/4 hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211 MODERATE 1 SNV 1 PASS TAC . . 3596164 MARCH11 . GRCh38 chr5 16179434 16179434 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.142T>G p.Tyr48Asp p.Y48D ENST00000332432 1/4 79 63 11 40 39 0 MARCH11,missense_variant,p.Tyr48Asp,ENST00000332432,NM_001102562.1;MARCH11,upstream_gene_variant,,ENST00000507111,;AC092335.1,upstream_gene_variant,,ENST00000509037,;MARCH11,intron_variant,,ENST00000505509,; C ENSG00000183654 ENST00000332432 Transcript missense_variant 342/1741 142/1209 48/402 Y/D Tac/Gac 1 -1 MARCH11 HGNC HGNC:33609 protein_coding YES CCDS47192.1 ENSP00000333181 A6NNE9 UPI00015B3D4A NM_001102562.1 deleterious_low_confidence(0.03) benign(0.066) 1/4 hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF67,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS TAG . . 16179434 MAP3K1 . GRCh38 chr5 56815613 56815613 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.40T>G p.Phe14Val p.F14V ENST00000399503 1/20 93 67 19 41 40 0 MAP3K1,missense_variant,p.Phe14Val,ENST00000399503,NM_005921.1;,regulatory_region_variant,,ENSR00000180954,; G ENSG00000095015 ENST00000399503 Transcript missense_variant 40/7011 40/4539 14/1512 F/V Ttc/Gtc 1 1 MAP3K1 HGNC HGNC:6848 protein_coding YES CCDS43318.1 ENSP00000382423 Q13233 UPI000015153B NM_005921.1 tolerated_low_confidence(0.25) benign(0.018) 1/20 mobidb-lite MODERATE 1 SNV 1 1 PASS ATT . . 56815613 MAP3K1 . GRCh38 chr5 56815667 56815667 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.94A>C p.Lys32Gln p.K32Q ENST00000399503 1/20 91 74 11 39 39 0 MAP3K1,missense_variant,p.Lys32Gln,ENST00000399503,NM_005921.1;,regulatory_region_variant,,ENSR00000180954,; C ENSG00000095015 ENST00000399503 Transcript missense_variant 94/7011 94/4539 32/1512 K/Q Aag/Cag 1 1 MAP3K1 HGNC HGNC:6848 protein_coding YES CCDS43318.1 ENSP00000382423 Q13233 UPI000015153B NM_005921.1 tolerated_low_confidence(0.65) benign(0) 1/20 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS CAA . . 56815667 PRDM6 . GRCh38 chr5 123090417 123090417 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.403A>C p.Lys135Gln p.K135Q ENST00000407847 2/8 99 82 14 39 39 0 PRDM6,missense_variant,p.Lys135Gln,ENST00000407847,NM_001136239.1;AC106786.1,upstream_gene_variant,,ENST00000442777,;AC106786.1,upstream_gene_variant,,ENST00000458103,; C ENSG00000061455 ENST00000407847 Transcript missense_variant 817/9267 403/1788 135/595 K/Q Aag/Cag 1 1 PRDM6 HGNC HGNC:9350 protein_coding YES CCDS47259.1 ENSP00000384725 Q9NQX0 UPI0001610E83 NM_001136239.1 tolerated_low_confidence(0.36) possibly_damaging(0.788) 2/8 hmmpanther:PTHR44700 MODERATE SNV 5 1 PASS CAA . . 123090417 SHROOM1 . GRCh38 chr5 132822798 132822798 + Nonstop_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.2557T>G p.Ter853GluextTer2 p.*853Eext*2 ENST00000378679 10/10 95 81 9 40 40 0 SHROOM1,stop_lost,p.Ter853GluextTer2,ENST00000378679,NM_001172700.1;SHROOM1,stop_lost,p.Ter853GluextTer2,ENST00000617339,;SHROOM1,stop_lost,p.Ter848GluextTer2,ENST00000319854,NM_133456.2;SHROOM1,stop_lost,p.Ter784GluextTer?,ENST00000378676,;SHROOM1,downstream_gene_variant,,ENST00000440118,;AC004775.1,upstream_gene_variant,,ENST00000607389,;SHROOM1,downstream_gene_variant,,ENST00000488072,;SHROOM1,downstream_gene_variant,,ENST00000495680,;SHROOM1,downstream_gene_variant,,ENST00000606676,;,regulatory_region_variant,,ENSR00000186904,; C ENSG00000164403 ENST00000378679 Transcript stop_lost 3362/4019 2557/2559 853/852 */E Tag/Gag 1 -1 SHROOM1 HGNC HGNC:24084 protein_coding YES CCDS54902.1 ENSP00000367950 Q2M3G4 UPI000036FD4D NM_001172700.1 10/10 HIGH 1 SNV 1 PASS TAT . . 132822798 REEP2 . GRCh38 chr5 138439210 138439210 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.2T>G p.Met1? p.M1? ENST00000378339 1/8 74 55 9 41 41 0 REEP2,start_lost,p.Met1?,ENST00000378339,NM_001271803.1;REEP2,start_lost,p.Met1?,ENST00000254901,NM_016606.3;REEP2,5_prime_UTR_variant,,ENST00000506158,;KDM3B,downstream_gene_variant,,ENST00000314358,NM_016604.3;REEP2,upstream_gene_variant,,ENST00000512126,;KDM3B,downstream_gene_variant,,ENST00000542866,;REEP2,upstream_gene_variant,,ENST00000613650,;REEP2,non_coding_transcript_exon_variant,,ENST00000464751,;REEP2,start_lost,p.Met1?,ENST00000507511,;REEP2,non_coding_transcript_exon_variant,,ENST00000510467,;REEP2,non_coding_transcript_exon_variant,,ENST00000503379,;KDM3B,downstream_gene_variant,,ENST00000507996,;KDM3B,downstream_gene_variant,,ENST00000510866,;,regulatory_region_variant,,ENSR00000187485,; G ENSG00000132563 ENST00000378339 Transcript start_lost 194/2170 2/765 1/254 M/R aTg/aGg 1 1 REEP2 HGNC HGNC:17975 protein_coding YES CCDS64259.1 ENSP00000367590 Q9BRK0 A8K3D2 UPI0000039E47 NM_001271803.1 deleterious(0) probably_damaging(0.969) 1/8 HIGH 1 SNV 1 1 PASS ATG . . 138439210 ARL10 . GRCh38 chr5 176365655 176365655 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.92A>C p.Tyr31Ser p.Y31S ENST00000310389 1/4 90 78 7 54 52 0 ARL10,missense_variant,p.Tyr31Ser,ENST00000310389,NM_173664.5,NM_001317948.1;KIAA1191,upstream_gene_variant,,ENST00000298569,NM_020444.4;KIAA1191,upstream_gene_variant,,ENST00000393725,NM_001079684.2;KIAA1191,upstream_gene_variant,,ENST00000503082,;ARL10,upstream_gene_variant,,ENST00000503175,;KIAA1191,upstream_gene_variant,,ENST00000504688,;KIAA1191,upstream_gene_variant,,ENST00000506983,;KIAA1191,upstream_gene_variant,,ENST00000510164,NM_001079685.2;ARL10,upstream_gene_variant,,ENST00000514533,;KIAA1191,upstream_gene_variant,,ENST00000533553,;KIAA1191,upstream_gene_variant,,ENST00000614420,NM_001287336.1;KIAA1191,upstream_gene_variant,,ENST00000620366,NM_001287335.1;MIR1271,upstream_gene_variant,,ENST00000408537,;KIAA1191,upstream_gene_variant,,ENST00000393728,;KIAA1191,upstream_gene_variant,,ENST00000506613,;KIAA1191,upstream_gene_variant,,ENST00000506668,;ARL10,upstream_gene_variant,,ENST00000507151,;KIAA1191,upstream_gene_variant,,ENST00000508023,;,regulatory_region_variant,,ENSR00000191209,; C ENSG00000175414 ENST00000310389 Transcript missense_variant 188/10845 92/735 31/244 Y/S tAc/tCc 1 1 ARL10 HGNC HGNC:22042 protein_coding YES CCDS4400.1 ENSP00000308496 Q8N8L6 UPI000006FEF9 NM_173664.5,NM_001317948.1 deleterious(0.01) probably_damaging(0.99) 1/4 hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF126,Transmembrane_helices:TMhelix MODERATE SNV 2 PASS TAC . . 176365655 F12 . GRCh38 chr5 177403950 177403950 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1159A>C p.Ile387Leu p.I387L ENST00000253496 10/14 113 100 10 48 48 0 F12,missense_variant,p.Ile387Leu,ENST00000253496,NM_000505.3;GRK6,intron_variant,,ENST00000502598,;PFN3,upstream_gene_variant,,ENST00000358571,NM_001029886.2;GRK6,upstream_gene_variant,,ENST00000506296,;F12,upstream_gene_variant,,ENST00000514943,;F12,non_coding_transcript_exon_variant,,ENST00000510358,;F12,non_coding_transcript_exon_variant,,ENST00000502854,;F12,non_coding_transcript_exon_variant,,ENST00000503736,;F12,upstream_gene_variant,,ENST00000504406,;,regulatory_region_variant,,ENSR00000191333,; G ENSG00000131187 ENST00000253496 Transcript missense_variant 1208/2049 1159/1848 387/615 I/L Atc/Ctc 1 -1 F12 HGNC HGNC:3530 protein_coding YES CCDS34302.1 ENSP00000253496 P00748 UPI000048055F NM_000505.3 tolerated(0.74) benign(0.038) 10/14 PDB-ENSP_mappings:4xde.A,PDB-ENSP_mappings:4xe4.A,cd00190,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF001146,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR44246,hmmpanther:PTHR44246:SF3 MODERATE 1 SNV 1 1 PASS ATG . . 177403950 PRR7 . GRCh38 chr5 177446962 177446962 + Splice_Site SNP T T A novel 7316-487 BS_3C702XH4 T T c.-325+2T>A ENST00000323249 114 102 5 50 50 0 PRR7,splice_donor_variant,,ENST00000323249,NM_030567.4;PRR7,splice_donor_variant,,ENST00000502922,NM_001174101.1;PRR7,intron_variant,,ENST00000507881,;GRK6,downstream_gene_variant,,ENST00000355472,NM_001004106.2;GRK6,downstream_gene_variant,,ENST00000393576,;PRR7,upstream_gene_variant,,ENST00000510492,NM_001174102.1;GRK6,downstream_gene_variant,,ENST00000528793,NM_002082.3;PRR7-AS1,intron_variant,,ENST00000425316,;PRR7-AS1,intron_variant,,ENST00000506465,;PRR7-AS1,upstream_gene_variant,,ENST00000511565,;PRR7-AS1,upstream_gene_variant,,ENST00000514846,;GRK6,downstream_gene_variant,,ENST00000515666,;,regulatory_region_variant,,ENSR00000191340,; A ENSG00000131188 ENST00000323249 Transcript splice_donor_variant 1 1 PRR7 HGNC HGNC:28130 protein_coding YES CCDS4419.1 ENSP00000327168 Q8TB68 A0A024R7R8 UPI0000073D0A NM_030567.4 1/3 HIGH 1 SNV 1 PASS GTG . . 177446962 PRRT1 . GRCh38 chr6 32150669 32150669 + Missense_Mutation SNP T T G rs1045844529 7316-487 BS_3C702XH4 T T c.257A>C p.His86Pro p.H86P ENST00000211413 2/4 81 58 18 23 22 0 PRRT1,missense_variant,p.His86Pro,ENST00000211413,NM_030651.3;PRRT1,intron_variant,,ENST00000375150,;AL662884.4,intron_variant,,ENST00000428778,;PPT2,upstream_gene_variant,,ENST00000324816,NM_005155.6,NM_001204103.1;PPT2,upstream_gene_variant,,ENST00000361568,NM_138717.2;PPT2,upstream_gene_variant,,ENST00000375137,;PPT2,upstream_gene_variant,,ENST00000375143,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;AL662884.3,downstream_gene_variant,,ENST00000475826,;AL662884.3,downstream_gene_variant,,ENST00000485392,;AL662884.3,downstream_gene_variant,,ENST00000494332,;AL662884.3,downstream_gene_variant,,ENST00000497552,;AL662884.3,downstream_gene_variant,,ENST00000498575,;PRRT1,intron_variant,,ENST00000472641,;PPT2-EGFL8,upstream_gene_variant,,ENST00000453656,;PPT2,upstream_gene_variant,,ENST00000465047,;PRRT1,upstream_gene_variant,,ENST00000467780,;PPT2,upstream_gene_variant,,ENST00000478521,;AL662884.4,downstream_gene_variant,,ENST00000486917,;PPT2,upstream_gene_variant,,ENST00000493548,;PRRT1,non_coding_transcript_exon_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2,upstream_gene_variant,,ENST00000436118,;PPT2-EGFL8,upstream_gene_variant,,ENST00000583227,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,; G ENSG00000204314 ENST00000211413 Transcript missense_variant 382/1909 257/921 86/306 H/P cAc/cCc rs1045844529 1 -1 PRRT1 HGNC HGNC:13943 protein_coding YES CCDS4739.1 ENSP00000211413 Q99946 A0A1U9X8D6 UPI000012FFED NM_030651.3 tolerated_low_confidence(0.16) benign(0.007) 2/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14948:SF21,hmmpanther:PTHR14948 MODERATE 1 SNV 1 PASS GTG . . 32150669 HLA-DRB5 . GRCh38 chr6 32521931 32521931 + Missense_Mutation SNP C C A rs41556512 7316-487 BS_3C702XH4 C C c.344G>T p.Gly115Val p.G115V ENST00000374975 2/6 69 35 13 29 26 0 HLA-DRB5,missense_variant,p.Gly115Val,ENST00000374975,NM_002125.3;,regulatory_region_variant,,ENSR00000195684,; A ENSG00000198502 ENST00000374975 Transcript missense_variant 407/1260 344/801 115/266 G/V gGt/gTt rs41556512,COSM4593892 1 -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154 UPI000008AF56 NM_002125.3 tolerated(0.54) benign(0.001) 2/6 PDB-ENSP_mappings:1fv1.B,PDB-ENSP_mappings:1fv1.E,PDB-ENSP_mappings:1h15.B,PDB-ENSP_mappings:1h15.E,PDB-ENSP_mappings:1hqr.B,PDB-ENSP_mappings:1zgl.B,PDB-ENSP_mappings:1zgl.E,PDB-ENSP_mappings:1zgl.H,PDB-ENSP_mappings:1zgl.K,Gene3D:3.10.320.10,blastprodom:PD000328,Pfam_domain:PF00969,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF84,SMART_domains:SM00921,Superfamily_domains:SSF54452 0.2398 0.2247 0.2911 0.2242 0.2416 0.2382 0,1 MODERATE 1 SNV 0,1 PASS ACC . . 0.02205 0.01904 0.05771 0.02732 0.009461 0.01159 0.02126 0.01589 0.01085 32521931 HLA-DRB1 . GRCh38 chr6 32584193 32584193 + Missense_Mutation SNP T T A rs17886918 7316-487 BS_3C702XH4 T T c.286A>T p.Ile96Phe p.I96F ENST00000360004 2/6 51 34 13 25 25 0 HLA-DRB1,missense_variant,p.Ile96Phe,ENST00000360004,NM_002124.3;,regulatory_region_variant,,ENSR00000195690,; A ENSG00000196126 ENST00000360004 Transcript missense_variant 392/1229 286/801 96/266 I/F Atc/Ttc rs17886918,COSM4006428,COSM3830224 1 -1 HLA-DRB1 HGNC HGNC:4948 protein_coding YES CCDS47409.1 ENSP00000353099 Q29974,P01911,Q9GIY3,P04229 X5DNQ0,D7RIH8 UPI000008A1F7 NM_002124.3 tolerated(0.69) benign(0.001) 2/6 PDB-ENSP_mappings:1bx2.B,PDB-ENSP_mappings:1bx2.E,PDB-ENSP_mappings:1ymm.B,PDB-ENSP_mappings:2wbj.B,PDB-ENSP_mappings:2wbj.F,PDB-ENSP_mappings:5v4m.C,PDB-ENSP_mappings:5v4m.F,PDB-ENSP_mappings:5v4m.I,PDB-ENSP_mappings:5v4m.L,Gene3D:3.10.320.10,Pfam_domain:PF00969,SMART_domains:SM00921,Superfamily_domains:SSF54452,hmmpanther:PTHR19944:SF84,hmmpanther:PTHR19944,blastprodom:PD000328 0,1,1 MODERATE 1 SNV 0,1,1 1 PASS ATG . . 0.008884 0.0008365 0.005956 0.009732 0.000928 0.005123 0.01217 0.01396 0.008734 32584193 GNMT . GRCh38 chr6 42963198 42963198 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.578A>C p.Lys193Thr p.K193T ENST00000372808 4/6 39 25 7 24 23 0 GNMT,missense_variant,p.Lys193Thr,ENST00000372808,NM_001318865.1,NM_018960.5,NM_001318856.1;PEX6,downstream_gene_variant,,ENST00000244546,;PEX6,downstream_gene_variant,,ENST00000304611,NM_001316313.1,NM_000287.3; C ENSG00000124713 ENST00000372808 Transcript missense_variant 588/1072 578/888 193/295 K/T aAg/aCg 1 1 GNMT HGNC HGNC:4415 protein_coding YES CCDS4876.1 ENSP00000361894 Q14749 V9HW60 UPI000000161D NM_001318865.1,NM_018960.5,NM_001318856.1 deleterious(0) probably_damaging(0.93) 4/6 PDB-ENSP_mappings:1r74.A,PDB-ENSP_mappings:1r74.B,PDB-ENSP_mappings:2azt.A,PDB-ENSP_mappings:2azt.B,PROSITE_profiles:PS51600,hmmpanther:PTHR16458,Gene3D:3.30.46.10,PIRSF_domain:PIRSF000385,Superfamily_domains:SSF53335 MODERATE 1 SNV 1 1 PASS AAG . . 42963198 PRDM13 . GRCh38 chr6 99613570 99613570 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.935A>C p.Tyr312Ser p.Y312S ENST00000369215 4/4 115 98 13 31 31 0 PRDM13,missense_variant,p.Tyr312Ser,ENST00000369215,NM_021620.3;PRDM13,3_prime_UTR_variant,,ENST00000369214,;,regulatory_region_variant,,ENSR00000200237,;,TF_binding_site_variant,,MA0139.1,; C ENSG00000112238 ENST00000369215 Transcript missense_variant 1240/2429 935/2124 312/707 Y/S tAc/tCc 1 1 PRDM13 HGNC HGNC:13998 protein_coding YES CCDS43487.1 ENSP00000358217 Q9H4Q3 UPI000047099D NM_021620.3 tolerated_low_confidence(1) benign(0.206) 4/4 hmmpanther:PTHR44990 MODERATE 1 SNV 1 PASS TAC . . 99613570 OLIG3 . GRCh38 chr6 137494073 137494073 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.98A>C p.Gln33Pro p.Q33P ENST00000367734 1/1 112 86 13 37 37 0 OLIG3,missense_variant,p.Gln33Pro,ENST00000367734,NM_175747.2;,regulatory_region_variant,,ENSR00000203630,; G ENSG00000177468 ENST00000367734 Transcript missense_variant 178/2049 98/819 33/272 Q/P cAg/cCg 1 -1 OLIG3 HGNC HGNC:18003 protein_coding YES CCDS5186.1 ENSP00000356708 Q7RTU3 UPI000006F9D6 NM_175747.2 tolerated(0.26) possibly_damaging(0.506) 1/1 hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF96,mobidb-lite MODERATE 1 SNV PASS CTG . . 137494073 MTHFD1L . GRCh38 chr6 150865872 150865872 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.50A>C p.Gln17Pro p.Q17P ENST00000611279 1/28 99 75 13 39 39 0 MTHFD1L,missense_variant,p.Gln17Pro,ENST00000367321,NM_015440.4;MTHFD1L,missense_variant,p.Gln17Pro,ENST00000611279,NM_001242767.1;MTHFD1L,missense_variant,p.Gln17Pro,ENST00000367307,NM_001242769.1,NM_001350488.1;MTHFD1L,upstream_gene_variant,,ENST00000367308,;MTHFD1L,upstream_gene_variant,,ENST00000423867,;MTHFD1L,upstream_gene_variant,,ENST00000618312,NM_001242768.1,NM_001350493.1,NM_001350486.1;MTHFD1L,upstream_gene_variant,,ENST00000441122,;,regulatory_region_variant,,ENSR00000205219,; C ENSG00000120254 ENST00000611279 Transcript missense_variant 194/3475 50/2940 17/979 Q/P cAg/cCg 1 1 MTHFD1L HGNC HGNC:21055 protein_coding YES CCDS75535.1 ENSP00000478253 B7ZM99 UPI000166C73D NM_001242767.1 tolerated_low_confidence(0.15) benign(0) 1/28 hmmpanther:PTHR43274,hmmpanther:PTHR43274:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAG . . 150865872 IGF2R . GRCh38 chr6 159969379 159969379 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.133T>G p.Phe45Val p.F45V ENST00000356956 1/48 122 89 25 52 52 0 IGF2R,missense_variant,p.Phe45Val,ENST00000356956,NM_000876.3;,regulatory_region_variant,,ENSR00000206314,; G ENSG00000197081 ENST00000356956 Transcript missense_variant 281/14044 133/7476 45/2491 F/V Ttc/Gtc 1 1 IGF2R HGNC HGNC:5467 protein_coding YES CCDS5273.1 ENSP00000349437 P11717 UPI0000072478 NM_000876.3 tolerated(0.17) benign(0.003) 1/48 Gene3D:2.70.130.10,Superfamily_domains:SSF50911 MODERATE 1 SNV 1 1 PASS GTT . . 159969379 PRR18 . GRCh38 chr6 166307481 166307481 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.662T>G p.Val221Gly p.V221G ENST00000322583 1/1 89 71 16 37 37 0 PRR18,missense_variant,p.Val221Gly,ENST00000322583,NM_175922.3;PRR18,downstream_gene_variant,,ENST00000529616,; C ENSG00000176381 ENST00000322583 Transcript missense_variant 903/3084 662/888 221/295 V/G gTt/gGt 1 -1 PRR18 HGNC HGNC:28574 protein_coding YES CCDS5291.1 ENSP00000319590 Q8N4B5 UPI0000140E82 NM_175922.3 tolerated_low_confidence(0.36) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR10994:SF127,hmmpanther:PTHR10994,Pfam_domain:PF15671 MODERATE 1 SNV PASS AAC . . 166307481 FRMD1 . GRCh38 chr6 168078959 168078959 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.136A>C p.Met46Leu p.M46L ENST00000283309 1/11 96 83 11 41 41 0 FRMD1,missense_variant,p.Met88Leu,ENST00000646385,;FRMD1,missense_variant,p.Met19Leu,ENST00000644440,;FRMD1,missense_variant,p.Met46Leu,ENST00000283309,NM_024919.4;FRMD1,missense_variant,p.Met88Leu,ENST00000511714,;FRMD1,upstream_gene_variant,,ENST00000440994,NM_001122841.2;FRMD1,missense_variant,p.Met85Leu,ENST00000468647,;FRMD1,missense_variant,p.Met85Leu,ENST00000509157,;FRMD1,non_coding_transcript_exon_variant,,ENST00000358587,; G ENSG00000153303 ENST00000283309 Transcript missense_variant 201/3067 136/1650 46/549 M/L Atg/Ctg 1 -1 FRMD1 HGNC HGNC:21240 protein_coding YES CCDS5306.1 ENSP00000283309 Q8N878 UPI000013F36A NM_024919.4 tolerated(0.1) benign(0.006) 1/11 hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF22 MODERATE 1 SNV 1 PASS ATT . . 168078959 FAM120B . GRCh38 chr6 170318607 170318607 + Missense_Mutation SNP A A G rs113032155 7316-487 BS_3C702XH4 A A c.1286A>G p.Asp429Gly p.D429G ENST00000537664 2/11 79 62 8 52 50 1 FAM120B,missense_variant,p.Asp406Gly,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Asp418Gly,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Asp429Gly,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1; G ENSG00000112584 ENST00000537664 Transcript missense_variant 1371/3212 1286/2802 429/933 D/G gAc/gGc rs113032155,COSM4006211,COSM4006210 1 1 FAM120B HGNC HGNC:21109 protein_coding YES CCDS75555.1 ENSP00000440125 F5GY05 UPI00020654A4 NM_001286380.1 tolerated_low_confidence(0.1) benign(0) 2/11 mobidb-lite,hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17 0.0952 0.0424 0.1182 0.1627 0.0636 0.1135 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GAC . . 170318607 UNCX . GRCh38 chr7 1233220 1233220 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.203T>G p.Val68Gly p.V68G ENST00000316333 1/3 60 47 9 35 34 0 UNCX,missense_variant,p.Val68Gly,ENST00000316333,NM_001080461.1; G ENSG00000164853 ENST00000316333 Transcript missense_variant 314/2048 203/1596 68/531 V/G gTg/gGg 1 1 UNCX HGNC HGNC:33194 protein_coding YES CCDS34583.1 ENSP00000314480 A6NJT0 UPI0000D61BE6 NM_001080461.1 deleterious(0) benign(0.441) 1/3 hmmpanther:PTHR24329:SF500,hmmpanther:PTHR24329 MODERATE 1 SNV 1 PASS GTG . . 1233220 RADIL . GRCh38 chr7 4800295 4800295 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.2858T>G p.Leu953Arg p.L953R ENST00000399583 13/15 107 94 12 56 56 0 RADIL,missense_variant,p.Leu953Arg,ENST00000399583,NM_018059.4;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000472999,;RADIL,downstream_gene_variant,,ENST00000469399,; C ENSG00000157927 ENST00000399583 Transcript missense_variant 3046/3689 2858/3228 953/1075 L/R cTt/cGt 1 -1 RADIL HGNC HGNC:22226 protein_coding YES CCDS43544.1 ENSP00000382492 Q96JH8 UPI0000E0A787 NM_018059.4 tolerated(0.35) benign(0) 13/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3 MODERATE 1 SNV 5 PASS AAG . . 4800295 GLCCI1 . GRCh38 chr7 7969472 7969472 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.122A>C p.Asn41Thr p.N41T ENST00000223145 1/8 55 47 8 39 39 0 GLCCI1,missense_variant,p.Asn41Thr,ENST00000223145,NM_138426.3;GLCCI1,upstream_gene_variant,,ENST00000414914,;GLCCI1,upstream_gene_variant,,ENST00000430798,;UMAD1,downstream_gene_variant,,ENST00000482067,;AC006042.2,intron_variant,,ENST00000428660,;AC007161.3,intron_variant,,ENST00000469183,;GLCCI1,upstream_gene_variant,,ENST00000470583,;GLCCI1,upstream_gene_variant,,ENST00000474269,;GLCCI1,upstream_gene_variant,,ENST00000460897,;GLCCI1,upstream_gene_variant,,ENST00000492797,;,regulatory_region_variant,,ENSR00000324743,; C ENSG00000106415 ENST00000223145 Transcript missense_variant 679/4743 122/1644 41/547 N/T aAc/aCc 1 1 GLCCI1 HGNC HGNC:18713 protein_coding YES CCDS34601.1 ENSP00000223145 Q86VQ1 UPI00001907F7 NM_138426.3 deleterious_low_confidence(0.02) benign(0.005) 1/8 hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 7969472 HOXA13 . GRCh38 chr7 27199678 27199678 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.400T>G p.Ser134Ala p.S134A ENST00000222753 1/2 61 47 12 29 29 0 HOXA13,missense_variant,p.Ser134Ala,ENST00000222753,NM_000522.4;HOTTIP,intron_variant,,ENST00000421733,;HOTTIP,intron_variant,,ENST00000605136,;HOTTIP,upstream_gene_variant,,ENST00000472494,;HOTTIP,upstream_gene_variant,,ENST00000521028,;RF02041,upstream_gene_variant,,ENST00000616633,;RF02042,upstream_gene_variant,,ENST00000619957,;RF02040,upstream_gene_variant,,ENST00000620415,;HOXA13,upstream_gene_variant,,ENST00000518136,;,regulatory_region_variant,,ENSR00000209863,; C ENSG00000106031 ENST00000222753 Transcript missense_variant 429/5030 400/1167 134/388 S/A Tcg/Gcg 1 -1 HOXA13 HGNC HGNC:5102 protein_coding YES CCDS5412.1 ENSP00000222753 P31271 UPI000013C812 NM_000522.4 tolerated(0.82) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF213,hmmpanther:PTHR24326,Gene3D:1.10.10.60 MODERATE 1 SNV 1 1 PASS GAC . . 27199678 CDK13 . GRCh38 chr7 39951364 39951364 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.723A>C p.Glu241Asp p.E241D ENST00000181839 1/14 113 91 20 55 54 0 CDK13,missense_variant,p.Glu241Asp,ENST00000181839,NM_003718.4;CDK13,missense_variant,p.Glu241Asp,ENST00000340829,NM_031267.3;CDK13,missense_variant,p.Glu21Asp,ENST00000646039,;CDK13,missense_variant,p.Glu116Asp,ENST00000643868,;CDK13,5_prime_UTR_variant,,ENST00000613626,;CDK13,upstream_gene_variant,,ENST00000611390,;CDK13,upstream_gene_variant,,ENST00000643859,;AC072061.1,upstream_gene_variant,,ENST00000569710,;,regulatory_region_variant,,ENSR00000211251,; C ENSG00000065883 ENST00000181839 Transcript missense_variant 1719/10135 723/4539 241/1512 E/D gaA/gaC 1 1 CDK13 HGNC HGNC:1733 protein_coding YES CCDS5461.1 ENSP00000181839 Q14004 A0A024RA85 UPI000013C5E3 NM_003718.4 tolerated(0.46) benign(0) 1/14 hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 39951364 GLI3 . GRCh38 chr7 41966231 41966231 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.2842A>C p.Met948Leu p.M948L ENST00000395925 15/15 109 86 18 44 44 0 GLI3,missense_variant,p.Met948Leu,ENST00000395925,NM_000168.5;GLI3,missense_variant,p.Met889Leu,ENST00000479210,; G ENSG00000106571 ENST00000395925 Transcript missense_variant 2927/8208 2842/4743 948/1580 M/L Atg/Ctg 1 -1 GLI3 HGNC HGNC:4319 protein_coding YES CCDS5465.1 ENSP00000379258 P10071 UPI000020EE4C NM_000168.5 tolerated(0.25) benign(0.145) 15/15 hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF5 MODERATE 1 SNV 5 1 PASS ATG . . 41966231 AEBP1 . GRCh38 chr7 44104667 44104667 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.2T>G p.Met1? p.M1? ENST00000223357 1/21 87 67 16 25 25 0 AEBP1,start_lost,p.Met1?,ENST00000223357,NM_001129.4;AEBP1,upstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000453052,;,regulatory_region_variant,,ENSR00000211784,; G ENSG00000106624 ENST00000223357 Transcript start_lost 307/4081 2/3477 1/1158 M/R aTg/aGg 1 1 AEBP1 HGNC HGNC:303 protein_coding YES CCDS5476.1 ENSP00000223357 Q8IUX7 UPI00000746E2 NM_001129.4 deleterious_low_confidence(0) benign(0.284) 1/21 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 44104667 FZD9 . GRCh38 chr7 73434509 73434509 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.502A>C p.Lys168Gln p.K168Q ENST00000344575 1/1 107 88 15 44 44 0 FZD9,missense_variant,p.Lys168Gln,ENST00000344575,NM_003508.2;,regulatory_region_variant,,ENSR00000326727,; C ENSG00000188763 ENST00000344575 Transcript missense_variant 727/2338 502/1776 168/591 K/Q Aag/Cag 1 1 FZD9 HGNC HGNC:4047 protein_coding YES CCDS5548.1 ENSP00000345785 O00144 UPI000004EC98 NM_003508.2 tolerated(0.5) benign(0.015) 1/1 hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79 MODERATE 1 SNV PASS CAA . . 73434509 RCC1L . GRCh38 chr7 75073436 75073436 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.302A>C p.Tyr101Ser p.Y101S ENST00000610322 1/11 111 95 12 57 57 0 RCC1L,missense_variant,p.Tyr101Ser,ENST00000614461,NM_148842.2;RCC1L,missense_variant,p.Tyr101Ser,ENST00000610322,NM_030798.4;RCC1L,missense_variant,p.Tyr101Ser,ENST00000618035,NM_001281441.1;RCC1L,intron_variant,,ENST00000615250,;RCC1L,non_coding_transcript_exon_variant,,ENST00000616051,;,regulatory_region_variant,,ENSR00000213716,; G ENSG00000274523 ENST00000610322 Transcript missense_variant 358/2300 302/1395 101/464 Y/S tAt/tCt 1 -1 RCC1L HGNC HGNC:14948 protein_coding YES CCDS5577.1 ENSP00000480364 Q96I51 UPI0000138F99 NM_030798.4 deleterious(0.01) benign(0.198) 1/11 Gene3D:2.130.10.30,Pfam_domain:PF00415,hmmpanther:PTHR22870,Superfamily_domains:SSF50985 MODERATE 1 SNV 1 PASS ATA . . 75073436 SRRM3 . GRCh38 chr7 76235209 76235209 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.143A>C p.Lys48Thr p.K48T ENST00000611745 2/15 85 55 23 37 37 0 SRRM3,missense_variant,p.Lys48Thr,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,non_coding_transcript_exon_variant,,ENST00000479294,;,regulatory_region_variant,,ENSR00000213884,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 350/3612 143/1962 48/653 K/T aAg/aCg 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 deleterious(0.03) probably_damaging(1) 2/15 hmmpanther:PTHR45041,mobidb-lite MODERATE 1 SNV 5 PASS AAG . . 76235209 CUX1 . GRCh38 chr7 102201700 102201700 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.2436T>G p.Asp812Glu p.D812E ENST00000360264 18/24 75 62 8 43 42 1 CUX1,missense_variant,p.Asp812Glu,ENST00000360264,NM_001202543.1;CUX1,missense_variant,p.Asp801Glu,ENST00000292535,NM_181552.3;CUX1,missense_variant,p.Asp801Glu,ENST00000546411,;CUX1,missense_variant,p.Asp756Glu,ENST00000645010,;CUX1,missense_variant,p.Asp654Glu,ENST00000646649,;CUX1,missense_variant,p.Asp779Glu,ENST00000549414,;CUX1,missense_variant,p.Asp745Glu,ENST00000550008,;CUX1,missense_variant,p.Asp643Glu,ENST00000556210,;CUX1,intron_variant,,ENST00000292538,NM_001913.4;CUX1,intron_variant,,ENST00000393824,NM_001202546.2;CUX1,intron_variant,,ENST00000425244,NM_001202545.2;CUX1,intron_variant,,ENST00000437600,NM_181500.3;CUX1,intron_variant,,ENST00000547394,NM_001202544.2;CUX1,intron_variant,,ENST00000622516,;CUX1,intron_variant,,ENST00000558836,;CUX1,intron_variant,,ENST00000560541,; G ENSG00000257923 ENST00000360264 Transcript missense_variant 2456/13762 2436/4551 812/1516 D/E gaT/gaG 1 1 CUX1 HGNC HGNC:2557 protein_coding YES CCDS56498.1 ENSP00000353401 P39880 UPI00001AEB98 NM_001202543.1 tolerated(1) benign(0.007) 18/24 mobidb-lite,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF4 MODERATE 1 SNV 1 1 PASS ATT . . 102201700 DENND2A . GRCh38 chr7 140640501 140640501 + Splice_Region SNP T T G novel 7316-487 BS_3C702XH4 T T c.-146+3A>C ENST00000275884 123 91 20 43 40 0 DENND2A,splice_region_variant,,ENST00000275884,NM_001318052.1;DENND2A,splice_region_variant,,ENST00000475837,;DENND2A,splice_region_variant,,ENST00000496613,NM_015689.4;DENND2A,intron_variant,,ENST00000489552,;DENND2A,intron_variant,,ENST00000491728,;DENND2A,upstream_gene_variant,,ENST00000477488,;,regulatory_region_variant,,ENSR00000219123,; G ENSG00000146966 ENST00000275884 Transcript splice_region_variant,intron_variant 1 -1 DENND2A HGNC HGNC:22212 protein_coding YES CCDS43659.1 ENSP00000275884 Q9ULE3 UPI00001C1E63 NM_001318052.1 1/18 LOW 1 SNV 1 PASS CTA . . 140640501 REPIN1 . GRCh38 chr7 150368944 150368944 + Splice_Region SNP A A C novel 7316-487 BS_3C702XH4 A A c.-42+3A>C ENST00000489432 79 57 12 38 37 1 REPIN1,splice_region_variant,,ENST00000397281,NM_013400.3;REPIN1,splice_region_variant,,ENST00000444957,NM_001099696.2;REPIN1,splice_region_variant,,ENST00000466559,;REPIN1,splice_region_variant,,ENST00000475514,;AC073111.3,splice_region_variant,,ENST00000478789,;REPIN1,splice_region_variant,,ENST00000482680,;REPIN1,splice_region_variant,,ENST00000488943,;REPIN1,splice_region_variant,,ENST00000489432,NM_001099695.1;REPIN1,synonymous_variant,p.Val14=,ENST00000518514,;REPIN1,intron_variant,,ENST00000479668,;REPIN1,intron_variant,,ENST00000519397,;REPIN1,upstream_gene_variant,,ENST00000425389,NM_014374.3;AC005586.1,intron_variant,,ENST00000488310,;REPIN1,upstream_gene_variant,,ENST00000518462,;REPIN1,splice_region_variant,,ENST00000473391,;REPIN1,synonymous_variant,p.Val14=,ENST00000467980,;REPIN1,synonymous_variant,p.Val14=,ENST00000522266,;REPIN1,non_coding_transcript_exon_variant,,ENST00000469309,;REPIN1,non_coding_transcript_exon_variant,,ENST00000495535,;REPIN1,intron_variant,,ENST00000487455,;REPIN1,upstream_gene_variant,,ENST00000486714,;,regulatory_region_variant,,ENSR00000219696,; C ENSG00000214022 ENST00000489432 Transcript splice_region_variant,intron_variant 1 1 REPIN1 HGNC HGNC:17922 protein_coding YES CCDS47745.1 ENSP00000417291 Q9BWE0 UPI0001596898 NM_001099695.1 1/2 LOW 1 SNV 2 PASS TAC . . 150368944 ATG9B . GRCh38 chr7 151024059 151024059 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.365T>G p.Leu122Arg p.L122R ENST00000639579 1/17 83 52 16 35 32 0 ATG9B,missense_variant,p.Leu122Arg,ENST00000639579,;ATG9B,missense_variant,p.Leu122Arg,ENST00000469530,NM_001317056.1;ABCB8,upstream_gene_variant,,ENST00000297504,NM_001282291.1;ABCB8,upstream_gene_variant,,ENST00000358849,NM_007188.4;ABCB8,upstream_gene_variant,,ENST00000461373,;ABCB8,upstream_gene_variant,,ENST00000477092,;ABCB8,upstream_gene_variant,,ENST00000477719,;ABCB8,upstream_gene_variant,,ENST00000498578,NM_001282292.1;ABCB8,upstream_gene_variant,,ENST00000542328,NM_001282293.1;AC010973.1,downstream_gene_variant,,ENST00000479085,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473409,;ATG9B,intron_variant,,ENST00000466157,;ATG9B,intron_variant,,ENST00000617967,;ABCB8,upstream_gene_variant,,ENST00000466956,;ABCB8,upstream_gene_variant,,ENST00000469410,;ABCB8,upstream_gene_variant,,ENST00000471796,;ABCB8,upstream_gene_variant,,ENST00000472698,;ABCB8,upstream_gene_variant,,ENST00000488370,;ABCB8,upstream_gene_variant,,ENST00000488826,;ATG9B,missense_variant,p.Leu122Arg,ENST00000605952,;ABCB8,upstream_gene_variant,,ENST00000462605,;ABCB8,upstream_gene_variant,,ENST00000466514,;ABCB8,upstream_gene_variant,,ENST00000470645,;ATG9B,upstream_gene_variant,,ENST00000473134,;ABCB8,upstream_gene_variant,,ENST00000482309,;ABCB8,upstream_gene_variant,,ENST00000488551,;ABCB8,upstream_gene_variant,,ENST00000489192,; C ENSG00000181652 ENST00000639579 Transcript missense_variant 441/4539 365/2775 122/924 L/R cTg/cGg 1 -1 ATG9B HGNC HGNC:21899 protein_coding YES CCDS83242.1 ENSP00000491504 Q674R7 UPI00004286C0 deleterious_low_confidence(0) benign(0.282) 1/17 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 151024059 SMARCD3 . GRCh38 chr7 151245673 151245673 + Splice_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.79-2A>C p.X27_splice ENST00000262188 107 75 19 43 40 2 SMARCD3,splice_acceptor_variant,,ENST00000262188,NM_001003801.1;SMARCD3,splice_acceptor_variant,,ENST00000356800,NM_001003802.1;SMARCD3,splice_acceptor_variant,,ENST00000392811,NM_003078.3;SMARCD3,splice_acceptor_variant,,ENST00000491651,;AC005486.1,upstream_gene_variant,,ENST00000466775,;AC021097.1,downstream_gene_variant,,ENST00000607902,;SMARCD3,splice_acceptor_variant,,ENST00000460431,;SMARCD3,splice_acceptor_variant,,ENST00000477169,;SMARCD3,upstream_gene_variant,,ENST00000489503,;SMARCD3,splice_acceptor_variant,,ENST00000472988,;SMARCD3,splice_acceptor_variant,,ENST00000485610,;SMARCD3,intron_variant,,ENST00000469154,;SMARCD3,upstream_gene_variant,,ENST00000470588,;SMARCD3,upstream_gene_variant,,ENST00000472103,;SMARCD3,upstream_gene_variant,,ENST00000485592,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,PB0010.1,; G ENSG00000082014 ENST00000262188 Transcript splice_acceptor_variant 1 -1 SMARCD3 HGNC HGNC:11108 protein_coding YES CCDS34780.1 ENSP00000262188 Q6STE5 UPI000022D4B4 NM_001003801.1 1/12 HIGH 1 SNV 1 PASS CTG . . 151245673 XKR6 . GRCh38 chr8 11200993 11200993 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.347A>C p.Glu116Ala p.E116A ENST00000416569 1/3 84 64 14 34 34 0 XKR6,missense_variant,p.Glu116Ala,ENST00000416569,NM_173683.3;XKR6,missense_variant,p.Glu116Ala,ENST00000297303,;AF131215.7,upstream_gene_variant,,ENST00000602443,;XKR6,upstream_gene_variant,,ENST00000529336,;,regulatory_region_variant,,ENSR00000221033,; G ENSG00000171044 ENST00000416569 Transcript missense_variant 374/3382 347/1926 116/641 E/A gAg/gCg 1 -1 XKR6 HGNC HGNC:27806 protein_coding YES CCDS5978.2 ENSP00000416707 Q5GH73 UPI00004C7A9D NM_173683.3 tolerated(0.75) benign(0.003) 1/3 hmmpanther:PTHR16024,hmmpanther:PTHR16024:SF9,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTC . . 11200993 XKR6 . GRCh38 chr8 11201022 11201022 + Missense_Mutation SNP T T G rs933596769 7316-487 BS_3C702XH4 T T c.318A>C p.Gln106His p.Q106H ENST00000416569 1/3 83 63 11 38 36 2 XKR6,missense_variant,p.Gln106His,ENST00000416569,NM_173683.3;XKR6,missense_variant,p.Gln106His,ENST00000297303,;AF131215.7,upstream_gene_variant,,ENST00000602443,;XKR6,upstream_gene_variant,,ENST00000529336,;,regulatory_region_variant,,ENSR00000221033,; G ENSG00000171044 ENST00000416569 Transcript missense_variant 345/3382 318/1926 106/641 Q/H caA/caC rs933596769 1 -1 XKR6 HGNC HGNC:27806 protein_coding YES CCDS5978.2 ENSP00000416707 Q5GH73 UPI00004C7A9D NM_173683.3 tolerated(0.09) benign(0) 1/3 hmmpanther:PTHR16024,hmmpanther:PTHR16024:SF9,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 11201022 SORBS3 . GRCh38 chr8 22554583 22554583 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.77T>G p.Ile26Arg p.I26R ENST00000240123 2/21 113 93 15 37 35 0 SORBS3,missense_variant,p.Ile26Arg,ENST00000240123,NM_005775.4;SORBS3,upstream_gene_variant,,ENST00000520563,;SORBS3,non_coding_transcript_exon_variant,,ENST00000522037,;SORBS3,non_coding_transcript_exon_variant,,ENST00000523941,;SORBS3,missense_variant,p.Ile26Arg,ENST00000517500,;SORBS3,non_coding_transcript_exon_variant,,ENST00000517535,;SORBS3,non_coding_transcript_exon_variant,,ENST00000523402,;SORBS3,upstream_gene_variant,,ENST00000524057,; G ENSG00000120896 ENST00000240123 Transcript missense_variant 460/3459 77/2016 26/671 I/R aTa/aGa 1 1 SORBS3 HGNC HGNC:30907 protein_coding YES CCDS6031.1 ENSP00000240123 O60504 UPI00001AE6B5 NM_005775.4 tolerated_low_confidence(0.09) benign(0) 2/21 hmmpanther:PTHR44972 MODERATE 1 SNV 1 PASS ATA . . 22554583 CEBPD . GRCh38 chr8 47737514 47737514 + Missense_Mutation SNP T T G 7316-487 BS_3C702XH4 T T c.607A>C p.Ile203Leu p.I203L ENST00000408965 1/1 116 104 9 45 44 0 CEBPD,missense_variant,p.Ile203Leu,ENST00000408965,NM_005195.3;SPIDR,downstream_gene_variant,,ENST00000297423,NM_001080394.3;SPIDR,downstream_gene_variant,,ENST00000517619,;SPIDR,downstream_gene_variant,,ENST00000517693,NM_001352960.1;SPIDR,downstream_gene_variant,,ENST00000518060,;SPIDR,downstream_gene_variant,,ENST00000518074,NM_001282919.1;SPIDR,downstream_gene_variant,,ENST00000519401,;SPIDR,downstream_gene_variant,,ENST00000541342,NM_001282916.1;SPIDR,downstream_gene_variant,,ENST00000519141,;SPIDR,downstream_gene_variant,,ENST00000521214,;SPIDR,downstream_gene_variant,,ENST00000588781,;SPIDR,downstream_gene_variant,,ENST00000519362,;SPIDR,downstream_gene_variant,,ENST00000522117,;SPIDR,downstream_gene_variant,,ENST00000524126,;,regulatory_region_variant,,ENSR00000224260,; G ENSG00000221869 ENST00000408965 Transcript missense_variant 1573/2178 607/810 203/269 I/L Atc/Ctc COSM1755735 1 -1 CEBPD HGNC HGNC:1835 protein_coding YES CCDS6142.1 ENSP00000386165 P49716 UPI000013F79E NM_005195.3 deleterious(0.01) benign(0.134) 1/1 mobidb-lite,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50217,cd14714,hmmpanther:PTHR23334:SF3,hmmpanther:PTHR23334,PIRSF_domain:PIRSF005879,Pfam_domain:PF07716,SMART_domains:SM00338,Superfamily_domains:SSF57959 1 MODERATE SNV 1 PASS ATG . . 47737514 ZBTB10 . GRCh38 chr8 80487166 80487166 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.356A>C p.Asn119Thr p.N119T ENST00000430430 2/7 82 66 10 31 30 0 ZBTB10,missense_variant,p.Asn119Thr,ENST00000430430,;ZBTB10,missense_variant,p.Asn119Thr,ENST00000426744,NM_023929.4;ZBTB10,missense_variant,p.Asn119Thr,ENST00000455036,NM_001105539.2;ZBTB10,intron_variant,,ENST00000379091,NM_001277145.1;ZBTB10,intron_variant,,ENST00000610895,;AC034114.2,downstream_gene_variant,,ENST00000644465,;RF00019,upstream_gene_variant,,ENST00000516058,;AC009812.1,upstream_gene_variant,,ENST00000605948,;,regulatory_region_variant,,ENSR00000226302,; C ENSG00000205189 ENST00000430430 Transcript missense_variant 1135/10132 356/2616 119/871 N/T aAc/aCc 1 1 ZBTB10 HGNC HGNC:30953 protein_coding YES CCDS47880.1 ENSP00000387462 Q96DT7 UPI0000E5AEF3 deleterious_low_confidence(0) probably_damaging(0.977) 2/7 mobidb-lite MODERATE 1 SNV 5 PASS AAC . . 80487166 BAALC . GRCh38 chr8 103141049 103141049 + Missense_Mutation SNP T T A novel 7316-487 BS_3C702XH4 T T c.152T>A p.Leu51Gln p.L51Q ENST00000309982 1/3 98 83 7 43 43 0 BAALC,missense_variant,p.Leu51Gln,ENST00000309982,NM_024812.2;BAALC,missense_variant,p.Leu51Gln,ENST00000438105,NM_001024372.1;BAALC,missense_variant,p.Leu51Gln,ENST00000297574,;BAALC,missense_variant,p.Leu51Gln,ENST00000306391,;BAALC,missense_variant,p.Leu51Gln,ENST00000330955,;BAALC-AS2,intron_variant,,ENST00000436771,;BAALC-AS2,intron_variant,,ENST00000521246,;,regulatory_region_variant,,ENSR00000228312,; A ENSG00000164929 ENST00000309982 Transcript missense_variant 340/2831 152/438 51/145 L/Q cTg/cAg 1 1 BAALC HGNC HGNC:14333 protein_coding YES CCDS6297.1 ENSP00000312457 Q8WXS3 UPI0000062199 NM_024812.2 tolerated(0.09) probably_damaging(0.931) 1/3 mobidb-lite,hmmpanther:PTHR14731 MODERATE 1 SNV 1 PASS CTG . . 103141049 SNTB1 . GRCh38 chr8 120811650 120811650 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.194A>C p.Asn65Thr p.N65T ENST00000395601 2/8 104 91 9 33 33 0 SNTB1,missense_variant,p.Asn65Thr,ENST00000395601,NM_021021.3;SNTB1,missense_variant,p.Asn65Thr,ENST00000517992,;SNTB1,downstream_gene_variant,,ENST00000520717,;AC104958.2,upstream_gene_variant,,ENST00000605955,;SNTB1,upstream_gene_variant,,ENST00000519177,;,regulatory_region_variant,,ENSR00000229596,; G ENSG00000172164 ENST00000395601 Transcript missense_variant 609/5164 194/1617 65/538 N/T aAt/aCt 1 -1 SNTB1 HGNC HGNC:11168 protein_coding YES CCDS6334.1 ENSP00000378965 Q13884 UPI0000135B20 NM_021021.3 tolerated(0.12) benign(0.005) 2/8 PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF11,SMART_domains:SM00233 MODERATE 1 SNV 5 PASS ATT . . 120811650 COL22A1 . GRCh38 chr8 138594083 138594083 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.4549A>C p.Met1517Leu p.M1517L ENST00000303045 63/65 65 51 11 40 39 1 COL22A1,missense_variant,p.Met1517Leu,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Met1210Leu,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,; G ENSG00000169436 ENST00000303045 Transcript missense_variant 4996/6346 4549/4881 1517/1626 M/L Atg/Ctg 1 -1 COL22A1 HGNC HGNC:22989 protein_coding YES CCDS6376.1 ENSP00000303153 Q8NFW1 UPI00001C1EA1 NM_152888.2 tolerated(0.44) benign(0.006) 63/65 mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF845,Pfam_domain:PF01391,Gene3D:2.160.20.50 MODERATE 1 SNV 1 PASS ATG . . 138594083 ARC . GRCh38 chr8 142614232 142614232 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.40T>G p.Tyr14Asp p.Y14D ENST00000356613 1/3 120 108 9 35 35 0 ARC,missense_variant,p.Tyr14Asp,ENST00000356613,NM_015193.4;ARC,upstream_gene_variant,,ENST00000581404,; C ENSG00000198576 ENST00000356613 Transcript missense_variant 241/2948 40/1191 14/396 Y/D Tac/Gac 1 -1 ARC HGNC HGNC:648 protein_coding YES CCDS34950.1 ENSP00000349022 Q7LC44 UPI0000163B0F NM_015193.4 deleterious_low_confidence(0) benign(0.198) 1/3 hmmpanther:PTHR15962 MODERATE 1 SNV 1 PASS TAG . . 142614232 RHPN1 . GRCh38 chr8 143380124 143380124 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.1165A>C p.Lys389Gln p.K389Q ENST00000289013 10/15 95 79 13 52 52 0 RHPN1,missense_variant,p.Lys389Gln,ENST00000289013,NM_052924.2;RHPN1,non_coding_transcript_exon_variant,,ENST00000522335,;RHPN1,non_coding_transcript_exon_variant,,ENST00000522899,; C ENSG00000158106 ENST00000289013 Transcript missense_variant 1266/3683 1165/2013 389/670 K/Q Aag/Cag 1 1 RHPN1 HGNC HGNC:19973 protein_coding YES CCDS47927.1 ENSP00000289013 Q8TCX5 UPI0000071870 NM_052924.2 tolerated(0.52) benign(0.005) 10/15 Gene3D:1.25.40.280,Pfam_domain:PF03097,PROSITE_profiles:PS51180,hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF6,SMART_domains:SM01041,cd09248 MODERATE 1 SNV 1 PASS TAA . . 143380124 SCRIB . GRCh38 chr8 143804694 143804694 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.2883T>G p.His961Gln p.H961Q ENST00000356994 21/37 102 83 14 33 33 0 SCRIB,missense_variant,p.His961Gln,ENST00000356994,NM_182706.4;SCRIB,missense_variant,p.His961Gln,ENST00000320476,NM_015356.4;SCRIB,missense_variant,p.His880Gln,ENST00000377533,;SCRIB,upstream_gene_variant,,ENST00000526832,;SCRIB,downstream_gene_variant,,ENST00000531942,; C ENSG00000180900 ENST00000356994 Transcript missense_variant 2890/5218 2883/4968 961/1655 H/Q caT/caG 1 -1 SCRIB HGNC HGNC:30377 protein_coding YES CCDS6412.1 ENSP00000349486 Q14160 UPI000232E1C0 NM_182706.4 tolerated(0.55) benign(0.005) 21/37 hmmpanther:PTHR23119,hmmpanther:PTHR23119:SF41,Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS AAT . . 143804694 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 110 88 17 55 55 0 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 OPLAH . GRCh38 chr8 144052570 144052570 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.3182T>G p.Ile1061Ser p.I1061S ENST00000618853 23/27 112 96 13 38 37 0 OPLAH,missense_variant,p.Ile1061Ser,ENST00000618853,NM_017570.4;MIR6846,downstream_gene_variant,,ENST00000613469,;SMPD5,downstream_gene_variant,,ENST00000528912,;OPLAH,downstream_gene_variant,,ENST00000527993,;OPLAH,downstream_gene_variant,,ENST00000531027,;,regulatory_region_variant,,ENSR00000232199,;SMPD5,downstream_gene_variant,,ENST00000639008,; C ENSG00000178814 ENST00000618853 Transcript missense_variant 3286/4031 3182/3867 1061/1288 I/S aTt/aGt 1 -1 OPLAH HGNC HGNC:8149 protein_coding YES CCDS75802.1 ENSP00000480476 O14841 UPI000035154E NM_017570.4 deleterious(0) probably_damaging(0.979) 23/27 hmmpanther:PTHR11365:SF2,hmmpanther:PTHR11365,Pfam_domain:PF02538 MODERATE 1 SNV 1 1 PASS AAT . . 144052570 SCRT1 . GRCh38 chr8 144333795 144333795 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.437A>C p.Asp146Ala p.D146A ENST00000569446 2/2 75 49 13 33 33 0 SCRT1,missense_variant,p.Asp146Ala,ENST00000569446,NM_031309.5; G ENSG00000261678 ENST00000569446 Transcript missense_variant 549/3779 437/1047 146/348 D/A gAc/gCc 1 -1 SCRT1 HGNC HGNC:15950 protein_coding YES CCDS6421.1 ENSP00000455711 Q9BWW7 UPI0000457711 NM_031309.5 tolerated_low_confidence(0.75) benign(0) 2/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44270:SF1,hmmpanther:PTHR44270,Gene3D:3.30.160.60 MODERATE 1 SNV 1 PASS GTC . . 144333795 PRSS3 . GRCh38 chr9 33750632 33750632 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.116A>C p.Gln39Pro p.Q39P ENST00000361005 1/5 96 66 21 38 37 0 PRSS3,missense_variant,p.Gln39Pro,ENST00000361005,NM_007343.3;PRSS3,5_prime_UTR_variant,,ENST00000342836,NM_001197097.2;PRSS3,upstream_gene_variant,,ENST00000429677,NM_001197098.1;PRSS3,upstream_gene_variant,,ENST00000457896,;PRSS3,upstream_gene_variant,,ENST00000468152,; C ENSG00000010438 ENST00000361005 Transcript missense_variant 116/966 116/915 39/304 Q/P cAg/cCg 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 tolerated_low_confidence(0.14) benign(0.006) 1/5 MODERATE 1 SNV 1 PASS CAG . . 33750632 FAM219A . GRCh38 chr9 34400971 34400971 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.551T>G p.Ile184Ser p.I184S ENST00000445726 6/6 108 94 13 38 38 0 FAM219A,missense_variant,p.Ile184Ser,ENST00000445726,NM_001184940.1,NM_001184941.1;FAM219A,missense_variant,p.Ile182Ser,ENST00000379089,;FAM219A,missense_variant,p.Ile171Ser,ENST00000379080,NM_001184942.1;FAM219A,missense_variant,p.Ile167Ser,ENST00000297620,NM_147202.1,NM_001184943.1;FAM219A,missense_variant,p.Ile165Ser,ENST00000379087,;FAM219A,missense_variant,p.Ile155Ser,ENST00000379081,NM_001184945.1;FAM219A,intron_variant,,ENST00000379084,;C9orf24,upstream_gene_variant,,ENST00000297623,NM_032596.3;FAM219A,downstream_gene_variant,,ENST00000379078,;FAM219A,downstream_gene_variant,,ENST00000422409,;C9orf24,upstream_gene_variant,,ENST00000444429,; C ENSG00000164970 ENST00000445726 Transcript missense_variant 858/3644 551/558 184/185 I/S aTt/aGt 1 -1 FAM219A HGNC HGNC:19920 protein_coding YES CCDS55304.1 ENSP00000392452 Q8IW50 UPI00005A2439 NM_001184940.1,NM_001184941.1 deleterious(0) probably_damaging(0.964) 6/6 hmmpanther:PTHR31281,hmmpanther:PTHR31281:SF0,Pfam_domain:PF15260 MODERATE SNV 2 PASS AAT . . 34400971 ARID3C . GRCh38 chr9 34627875 34627875 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.140A>C p.Asn47Thr p.N47T ENST00000378909 1/7 96 75 16 51 51 0 ARID3C,missense_variant,p.Asn47Thr,ENST00000378909,NM_001017363.1; G ENSG00000205143 ENST00000378909 Transcript missense_variant 233/1411 140/1239 47/412 N/T aAt/aCt 1 -1 ARID3C HGNC HGNC:21209 protein_coding YES CCDS35006.1 ENSP00000368189 A6NKF2 UPI0000509F06 NM_001017363.1 tolerated_low_confidence(0.14) benign(0.001) 1/7 hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF2,mobidb-lite MODERATE 1 SNV 2 PASS ATT . . 34627875 GAS1 . GRCh38 chr9 86946778 86946778 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.2T>G p.Met1? p.M1? ENST00000298743 1/1 96 72 15 52 52 0 GAS1,start_lost,p.Met1?,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;,regulatory_region_variant,,ENSR00000237164,; C ENSG00000180447 ENST00000298743 Transcript start_lost 412/2827 2/1038 1/345 M/R aTg/aGg 1 -1 GAS1 HGNC HGNC:4165 protein_coding YES CCDS6674.1 ENSP00000298743 P54826 UPI0000140B67 NM_002048.2 tolerated_low_confidence(0.07) benign(0.127) 1/1 Cleavage_site_(Signalp):SignalP-noTM HIGH SNV 1 PASS CAT . . 86946778 SLC35D2 . GRCh38 chr9 96383480 96383480 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.155A>C p.Tyr52Ser p.Y52S ENST00000253270 1/12 84 67 8 31 31 0 SLC35D2,missense_variant,p.Tyr52Ser,ENST00000253270,NM_007001.2;SLC35D2,missense_variant,p.Tyr52Ser,ENST00000375259,NM_001286990.1;SLC35D2,missense_variant,p.Tyr52Ser,ENST00000375257,;ZNF367,downstream_gene_variant,,ENST00000375256,NM_153695.3;SLC35D2,non_coding_transcript_exon_variant,,ENST00000482643,;,regulatory_region_variant,,ENSR00000238400,; G ENSG00000130958 ENST00000253270 Transcript missense_variant 218/1613 155/1014 52/337 Y/S tAc/tCc 1 -1 SLC35D2 HGNC HGNC:20799 protein_coding YES CCDS6717.1 ENSP00000253270 Q76EJ3 A0A024R9N5 UPI000003778E NM_007001.2 deleterious(0) probably_damaging(0.969) 1/12 hmmpanther:PTHR44055,hmmpanther:PTHR44055:SF2,Pfam_domain:PF03151 MODERATE 1 SNV 1 PASS GTA . . 96383480 FOXE1 . GRCh38 chr9 97854504 97854504 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.590A>C p.Tyr197Ser p.Y197S ENST00000375123 1/1 109 75 13 34 32 1 FOXE1,missense_variant,p.Tyr197Ser,ENST00000375123,NM_004473.3;,regulatory_region_variant,,ENSR00000238557,; C ENSG00000178919 ENST00000375123 Transcript missense_variant 1251/3462 590/1122 197/373 Y/S tAt/tCt 1 1 FOXE1 HGNC HGNC:3806 protein_coding YES CCDS35078.1 ENSP00000364265 O00358 UPI0000167B2F NM_004473.3 tolerated(0.08) benign(0.012) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF156,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAT . . 97854504 C9orf16 . GRCh38 chr9 128160409 128160409 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.2T>G p.Met1? p.M1? ENST00000372994 1/2 100 80 13 44 43 1 C9orf16,start_lost,p.Met1?,ENST00000372994,NM_024112.3;C9orf16,non_coding_transcript_exon_variant,,ENST00000492588,;C9orf16,non_coding_transcript_exon_variant,,ENST00000489240,;C9orf16,upstream_gene_variant,,ENST00000486420,;,regulatory_region_variant,,ENSR00000241826,; G ENSG00000171159 ENST00000372994 Transcript start_lost 150/713 2/252 1/83 M/R aTg/aGg 1 1 C9orf16 HGNC HGNC:17823 protein_coding YES CCDS6893.1 ENSP00000362085 Q9BUW7 UPI0000127982 NM_024112.3 deleterious(0) possibly_damaging(0.728) 1/2 blastprodom:PD479232,Pfam_domain:PF03670,hmmpanther:PTHR34344,mobidb-lite HIGH 1 SNV 1 PASS ATG . . 128160409 SH3GLB2 . GRCh38 chr9 129012258 129012258 + Missense_Mutation SNP A A C 7316-487 BS_3C702XH4 A A c.614T>G p.Ile205Ser p.I205S ENST00000372554 7/13 91 73 11 33 33 0 SH3GLB2,missense_variant,p.Ile201Ser,ENST00000372564,NM_020145.3,NM_001287046.1;SH3GLB2,missense_variant,p.Ile205Ser,ENST00000372554,NM_001287045.1;SH3GLB2,missense_variant,p.Ile201Ser,ENST00000417224,;SH3GLB2,missense_variant,p.Ile201Ser,ENST00000372559,;SH3GLB2,intron_variant,,ENST00000416629,;SH3GLB2,3_prime_UTR_variant,,ENST00000455407,;SH3GLB2,3_prime_UTR_variant,,ENST00000425236,;SH3GLB2,non_coding_transcript_exon_variant,,ENST00000461811,;SH3GLB2,non_coding_transcript_exon_variant,,ENST00000483980,;SH3GLB2,non_coding_transcript_exon_variant,,ENST00000477165,;SH3GLB2,downstream_gene_variant,,ENST00000416230,;SH3GLB2,upstream_gene_variant,,ENST00000479237,; C ENSG00000148341 ENST00000372554 Transcript missense_variant 739/1985 614/1215 205/404 I/S aTt/aGt COSM1105802,COSM4874519 1 -1 SH3GLB2 HGNC HGNC:10834 protein_coding YES CCDS69680.1 ENSP00000361634 Q9NR46 UPI000004A0D5 NM_001287045.1 deleterious(0.04) possibly_damaging(0.65) 7/13 Gene3D:1.20.1270.60,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR44071,hmmpanther:PTHR44071:SF2,SMART_domains:SM00721,cd07617 1,1 MODERATE 1 SNV 1 1,1 PASS AAT . . 129012258 HMCN2 . GRCh38 chr9 130433692 130433692 + Nonstop_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.15179A>C p.Ter5060SerextTer131 p.*5060Sext*131 ENST00000624552 98/98 110 87 12 47 46 0 HMCN2,stop_lost,p.Ter5060SerextTer131,ENST00000624552,NM_001291815.1;HMCN2,downstream_gene_variant,,ENST00000428715,;HMCN2,non_coding_transcript_exon_variant,,ENST00000623487,;,regulatory_region_variant,,ENSR00000242203,; C ENSG00000148357 ENST00000624552 Transcript stop_lost 15179/15610 15179/15180 5060/5059 */S tAa/tCa 1 1 HMCN2 HGNC HGNC:21293 protein_coding YES ENSP00000485357 Q8NDA2 UPI0004F23675 NM_001291815.1 98/98 HIGH 1 SNV 5 PASS TAA . . 130433692 PRRT1B . GRCh38 chr9 131554719 131554719 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.188A>C p.Asp63Ala p.D63A ENST00000636672 2/4 92 78 8 39 37 0 PRRT1B,missense_variant,p.Asp63Ala,ENST00000636672,; C ENSG00000283526 ENST00000636672 Transcript missense_variant 290/1312 188/792 63/263 D/A gAc/gCc 1 1 PRRT1B HGNC HGNC:53642 protein_coding YES ENSP00000490857 A0A1B0GWB2 UPI0007E52AFB tolerated_low_confidence(0.12) benign(0) 2/4 hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF18,mobidb-lite MODERATE 1 SNV 5 PASS GAC . . 131554719 LHX3 . GRCh38 chr9 136198819 136198819 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.623T>G p.Val208Gly p.V208G ENST00000371746 5/6 101 83 8 50 49 0 LHX3,missense_variant,p.Val192Gly,ENST00000619587,;LHX3,missense_variant,p.Val208Gly,ENST00000371746,NM_014564.4;LHX3,missense_variant,p.Val203Gly,ENST00000371748,NM_178138.5;LHX3,splice_region_variant,,ENST00000645419,; C ENSG00000107187 ENST00000371746 Transcript missense_variant,splice_region_variant 757/2418 623/1209 208/402 V/G gTt/gGt 1 -1 LHX3 HGNC HGNC:6595 protein_coding YES CCDS6995.1 ENSP00000360811 Q9UBR4 F1T0D9 UPI000002AD3D NM_014564.4 deleterious(0) probably_damaging(0.973) 5/6 Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF91,SMART_domains:SM00389,Superfamily_domains:SSF46689,cd00086 MODERATE 1 SNV 1 1 PASS AAC . . 136198819 ENTPD2 . GRCh38 chr9 137053883 137053883 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.115A>C p.Lys39Gln p.K39Q ENST00000355097 1/9 95 74 8 38 38 0 ENTPD2,missense_variant,p.Lys39Gln,ENST00000355097,NM_203468.2;ENTPD2,missense_variant,p.Lys39Gln,ENST00000312665,NM_001246.3;AL807752.2,upstream_gene_variant,,ENST00000435463,;AL807752.4,downstream_gene_variant,,ENST00000439076,;ENTPD2,splice_region_variant,,ENST00000469106,;ENTPD2,upstream_gene_variant,,ENST00000460614,;,regulatory_region_variant,,ENSR00000243129,; G ENSG00000054179 ENST00000355097 Transcript missense_variant,splice_region_variant 163/2095 115/1488 39/495 K/Q Aag/Cag 1 -1 ENTPD2 HGNC HGNC:3364 protein_coding YES CCDS7026.1 ENSP00000347213 Q9Y5L3 UPI0000001C45 NM_203468.2 tolerated(0.53) benign(0.007) 1/9 Pfam_domain:PF01150,hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF33 MODERATE 1 SNV 1 PASS TTG . . 137053883 TPRN . GRCh38 chr9 137199584 137199584 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.1128T>G p.Asp376Glu p.D376E ENST00000409012 1/4 105 92 10 48 48 0 TPRN,missense_variant,p.Asp376Glu,ENST00000409012,NM_001128228.2;TPRN,missense_variant,p.Asp174Glu,ENST00000333046,;TMEM203,downstream_gene_variant,,ENST00000343666,NM_053045.1;TPRN,intron_variant,,ENST00000541945,;TPRN,upstream_gene_variant,,ENST00000477345,; C ENSG00000176058 ENST00000409012 Transcript missense_variant 1158/2661 1128/2136 376/711 D/E gaT/gaG 1 -1 TPRN HGNC HGNC:26894 protein_coding YES CCDS56594.1 ENSP00000387100 Q4KMQ1 UPI0001722188 NM_001128228.2 tolerated(0.15) benign(0.05) 1/4 hmmpanther:PTHR21685,hmmpanther:PTHR21685:SF1,mobidb-lite MODERATE 1 SNV 1 1 PASS CAT . . 137199584 NSMF . GRCh38 chr9 137454441 137454441 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.782A>C p.Asn261Thr p.N261T ENST00000371475 7/16 95 71 13 51 49 1 NSMF,missense_variant,p.Asn238Thr,ENST00000437259,NM_001130970.1;NSMF,missense_variant,p.Asn236Thr,ENST00000371474,NM_001130971.1;NSMF,missense_variant,p.Asn261Thr,ENST00000371473,NM_001178064.1;NSMF,missense_variant,p.Asn261Thr,ENST00000371475,NM_001130969.1;NSMF,missense_variant,p.Asn259Thr,ENST00000265663,NM_015537.4;NSMF,missense_variant,p.Asn259Thr,ENST00000371472,;NSMF,upstream_gene_variant,,ENST00000482448,;MIR7114,upstream_gene_variant,,ENST00000611474,;NSMF,splice_region_variant,,ENST00000371482,;NSMF,non_coding_transcript_exon_variant,,ENST00000371468,;NSMF,upstream_gene_variant,,ENST00000484316,; G ENSG00000165802 ENST00000371475 Transcript missense_variant,splice_region_variant 1014/2987 782/1593 261/530 N/T aAc/aCc 1 -1 NSMF HGNC HGNC:29843 protein_coding YES CCDS48069.1 ENSP00000360530 Q6X4W1 UPI000035198D NM_001130969.1 deleterious_low_confidence(0.04) benign(0.269) 7/16 Gene3D:4.10.270.10,hmmpanther:PTHR32061 MODERATE 1 SNV 1 1 PASS GTT . . 137454441 ECHDC3 . GRCh38 chr10 11742613 11742613 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.37A>C p.Ser13Arg p.S13R ENST00000379215 1/5 96 78 13 48 46 0 ECHDC3,missense_variant,p.Ser13Arg,ENST00000379215,NM_024693.4;ECHDC3,missense_variant,p.Ser13Arg,ENST00000420401,;ECHDC3,upstream_gene_variant,,ENST00000422887,;ECHDC3,non_coding_transcript_exon_variant,,ENST00000496136,;ECHDC3,upstream_gene_variant,,ENST00000495787,;,regulatory_region_variant,,ENSR00000024468,; C ENSG00000134463 ENST00000379215 Transcript missense_variant 248/1649 37/912 13/303 S/R Agt/Cgt 1 1 ECHDC3 HGNC HGNC:23489 protein_coding YES CCDS7084.1 ENSP00000368517 Q96DC8 UPI00001F8B44 NM_024693.4 tolerated_low_confidence(0.29) benign(0) 1/5 MODERATE 1 SNV 1 PASS AAG . . 11742613 PITX3 . GRCh38 chr10 102230831 102230831 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.592A>C p.Met198Leu p.M198L ENST00000370002 4/4 101 87 6 27 27 0 PITX3,missense_variant,p.Met198Leu,ENST00000370002,NM_005029.3;PITX3,missense_variant,p.Met198Leu,ENST00000539804,;ELOVL3,downstream_gene_variant,,ENST00000370005,NM_152310.2;,regulatory_region_variant,,ENSR00000032705,; G ENSG00000107859 ENST00000370002 Transcript missense_variant 746/1391 592/909 198/302 M/L Atg/Ctg 1 -1 PITX3 HGNC HGNC:9006 protein_coding YES CCDS7532.1 ENSP00000359019 O75364 UPI0000131B4F NM_005029.3 tolerated(0.68) possibly_damaging(0.456) 4/4 PIRSF_domain:PIRSF000563,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF305,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS ATG . . 102230831 SPRN . GRCh38 chr10 133423391 133423391 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.291A>C p.Glu97Asp p.E97D ENST00000414069 2/2 100 83 14 39 39 0 SPRN,missense_variant,p.Glu97Asp,ENST00000414069,NM_001012508.3;MTG1,downstream_gene_variant,,ENST00000317502,NM_138384.2;MTG1,downstream_gene_variant,,ENST00000432508,;AL360181.3,downstream_gene_variant,,ENST00000468317,;MTG1,downstream_gene_variant,,ENST00000477902,;MTG1,downstream_gene_variant,,ENST00000460848,;MTG1,downstream_gene_variant,,ENST00000473735,;,regulatory_region_variant,,ENSR00000035555,; G ENSG00000203772 ENST00000414069 Transcript missense_variant 403/3128 291/456 97/151 E/D gaA/gaC 1 -1 SPRN HGNC HGNC:16871 protein_coding YES CCDS53589.1 ENSP00000433712 Q5BIV9 UPI0000251EE8 NM_001012508.3 deleterious(0.05) benign(0.018) 2/2 mobidb-lite,hmmpanther:PTHR28552,Pfam_domain:PF14999 MODERATE 1 SNV 1 PASS GTT . . 133423391 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 71 46 12 39 39 0 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 MUC5B . GRCh38 chr11 1251431 1251431 + Missense_Mutation SNP C C T rs201218727 7316-487 BS_3C702XH4 C C c.14551C>T p.Pro4851Ser p.P4851S ENST00000529681 31/49 77 61 14 36 35 0 MUC5B,missense_variant,p.Pro4851Ser,ENST00000529681,NM_002458.2;AC061979.1,upstream_gene_variant,,ENST00000532061,; T ENSG00000117983 ENST00000529681 Transcript missense_variant 14609/17911 14551/17289 4851/5762 P/S Ccg/Tcg rs201218727 1 1 MUC5B HGNC HGNC:7516 protein_coding YES CCDS44515.2 ENSP00000436812 Q9HC84 UPI0001DD21C7 NM_002458.2 tolerated(0.83) benign(0.003) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310 MODERATE 1 SNV 5 1 PASS GCC . . 0.0003428 6.645e-05 0.003553 7.286e-05 1251431 MUC5B . GRCh38 chr11 1251441 1251441 + Missense_Mutation SNP T T C rs200249076 7316-487 BS_3C702XH4 T T c.14561T>C p.Ile4854Thr p.I4854T ENST00000529681 31/49 81 60 11 35 35 0 MUC5B,missense_variant,p.Ile4854Thr,ENST00000529681,NM_002458.2;AC061979.1,upstream_gene_variant,,ENST00000532061,; C ENSG00000117983 ENST00000529681 Transcript missense_variant 14619/17911 14561/17289 4854/5762 I/T aTa/aCa rs200249076,COSM3773584,COSM3773583 1 1 MUC5B HGNC HGNC:7516 protein_coding YES CCDS44515.2 ENSP00000436812 Q9HC84 UPI0001DD21C7 NM_002458.2 tolerated(0.52) benign(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS ATA . . 0.0006277 0.0003342 0.00012 0.0002319 0.005511 0.0002136 6.561e-05 1251441 SCUBE2 . GRCh38 chr11 9091527 9091527 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.2T>G p.Met1? p.M1? ENST00000309263 1/22 87 69 9 35 34 0 SCUBE2,start_lost,p.Met1?,ENST00000309263,;SCUBE2,start_lost,p.Met1?,ENST00000520467,NM_020974.2;SCUBE2,start_lost,p.Met1?,ENST00000450649,NM_001170690.1;MIR5691,upstream_gene_variant,,ENST00000579525,;SCUBE2,intron_variant,,ENST00000534295,;,regulatory_region_variant,,ENSR00000036555,;KRT8P41,upstream_gene_variant,,ENST00000533985,; C ENSG00000175356 ENST00000309263 Transcript start_lost 75/3727 2/3000 1/999 M/R aTg/aGg 1 -1 SCUBE2 HGNC HGNC:30425 protein_coding YES CCDS81553.1 ENSP00000310658 Q9NQ36 UPI000004C7DE deleterious_low_confidence(0) benign(0.107) 1/22 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 5 PASS CAT . . 9091527 LMO2 . GRCh38 chr11 33869526 33869526 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.68A>C p.Lys23Thr p.K23T ENST00000257818 4/6 110 88 16 38 38 0 LMO2,missense_variant,p.Lys23Thr,ENST00000257818,NM_005574.3;LMO2,5_prime_UTR_variant,,ENST00000395833,NM_001142316.1,NM_001142315.1;LMO2,downstream_gene_variant,,ENST00000493667,;LMO2,5_prime_UTR_variant,,ENST00000411482,;LMO2,non_coding_transcript_exon_variant,,ENST00000465614,;LMO2,upstream_gene_variant,,ENST00000464025,;,regulatory_region_variant,,ENSR00000038602,; G ENSG00000135363 ENST00000257818 Transcript missense_variant 898/2294 68/684 23/227 K/T aAg/aCg 1 -1 LMO2 HGNC HGNC:6642 protein_coding YES CCDS7888.2 ENSP00000257818 P25791 UPI00001F9F84 NM_005574.3 deleterious_low_confidence(0.04) benign(0.001) 4/6 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS CTT . . 33869526 CHST1 . GRCh38 chr11 45665175 45665175 + Splice_Region SNP T T G novel 7316-487 BS_3C702XH4 T T c.-227+3A>C ENST00000308064 106 85 14 36 36 0 CHST1,splice_region_variant,,ENST00000308064,NM_003654.5;CHST1,splice_region_variant,,ENST00000531322,;,regulatory_region_variant,,ENSR00000039437,; G ENSG00000175264 ENST00000308064 Transcript splice_region_variant,intron_variant 1 -1 CHST1 HGNC HGNC:1969 protein_coding YES CCDS7913.1 ENSP00000309270 O43916 UPI0000073EA0 NM_003654.5 1/3 LOW 1 SNV 1 PASS ATA . . 45665175 PTGDR2 . GRCh38 chr11 60852637 60852637 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1086A>C p.Glu362Asp p.E362D ENST00000332539 2/2 103 77 21 29 28 1 PTGDR2,missense_variant,p.Glu362Asp,ENST00000332539,NM_004778.2;CCDC86,downstream_gene_variant,,ENST00000227520,NM_024098.3;CCDC86,downstream_gene_variant,,ENST00000545580,;AP000777.3,upstream_gene_variant,,ENST00000538705,;CCDC86,downstream_gene_variant,,ENST00000535217,;,regulatory_region_variant,,ENSR00000040152,; G ENSG00000183134 ENST00000332539 Transcript missense_variant 1198/2895 1086/1188 362/395 E/D gaA/gaC 1 -1 PTGDR2 HGNC HGNC:4502 protein_coding YES CCDS7994.1 ENSP00000332812 Q9Y5Y4 UPI00001B011A NM_004778.2 tolerated_low_confidence(0.62) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR24229:SF8,hmmpanther:PTHR24229 MODERATE 1 SNV 1 PASS GTT . . 60852637 LRRC10B . GRCh38 chr11 61509677 61509677 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.679T>G p.Phe227Val p.F227V ENST00000378075 1/1 117 102 11 42 42 0 LRRC10B,missense_variant,p.Phe227Val,ENST00000378075,NM_001145077.1;MIR4488,downstream_gene_variant,,ENST00000577388,;,regulatory_region_variant,,ENSR00000040282,; G ENSG00000204950 ENST00000378075 Transcript missense_variant 878/2219 679/879 227/292 F/V Ttc/Gtc 1 1 LRRC10B HGNC HGNC:37215 protein_coding YES CCDS44621.1 ENSP00000367315 A6NIK2 UPI00006C114B NM_001145077.1 tolerated(0.5) benign(0) 1/1 Gene3D:3.80.10.10,hmmpanther:PTHR45163 MODERATE 1 SNV PASS GTT . . 61509677 SYT7 . GRCh38 chr11 61546232 61546232 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.239A>C p.Lys80Thr p.K80T ENST00000540677 4/10 77 49 14 41 40 0 SYT7,missense_variant,p.Lys124Thr,ENST00000539008,;SYT7,missense_variant,p.Lys80Thr,ENST00000540677,NM_001252065.1;SYT7,missense_variant,p.Lys124Thr,ENST00000535826,;SYT7,intron_variant,,ENST00000263846,NM_004200.3;SYT7,intron_variant,,ENST00000542670,;SYT7,intron_variant,,ENST00000542836,NM_001300773.1;SYT7,intron_variant,,ENST00000545053,;AP003559.1,upstream_gene_variant,,ENST00000540906,;SYT7,3_prime_UTR_variant,,ENST00000539468,;SYT7,intron_variant,,ENST00000539246,; G ENSG00000011347 ENST00000540677 Transcript missense_variant 245/2013 239/1437 80/478 K/T aAa/aCa 1 -1 SYT7 HGNC HGNC:11514 protein_coding YES CCDS58139.1 ENSP00000444201 O43581 UPI0001639ECE NM_001252065.1 tolerated_low_confidence(0.53) benign(0.094) 4/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTT . . 61546232 MYRF . GRCh38 chr11 61752745 61752745 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.1A>C p.Met1? p.M1? ENST00000278836 1/27 45 29 11 32 31 0 MYRF,start_lost,p.Met1?,ENST00000278836,NM_001127392.2;MYRF,upstream_gene_variant,,ENST00000265460,NM_013279.3;DKFZP434K028,intron_variant,,ENST00000536405,;DKFZP434K028,downstream_gene_variant,,ENST00000244906,;DKFZP434K028,upstream_gene_variant,,ENST00000541891,;MYRF,non_coding_transcript_exon_variant,,ENST00000537766,;,regulatory_region_variant,,ENSR00000040329,; C ENSG00000124920 ENST00000278836 Transcript start_lost 97/5927 1/3456 1/1151 M/L Atg/Ctg 1 1 MYRF HGNC HGNC:1181 protein_coding YES CCDS44622.1 ENSP00000278836 Q9Y2G1 UPI0000D45F7B NM_001127392.2 deleterious(0.03) benign(0.267) 1/27 hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16 HIGH 1 SNV 1 PASS CAT . . 61752745 SF1 . GRCh38 chr11 64778107 64778107 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.286T>G p.Tyr96Asp p.Y96D ENST00000377387 1/13 58 41 10 43 42 0 SF1,missense_variant,p.Tyr96Asp,ENST00000377387,NM_001178030.1;SF1,intron_variant,,ENST00000227503,NM_201998.2,NM_001346364.1;SF1,intron_variant,,ENST00000334944,NM_201995.2;SF1,intron_variant,,ENST00000377390,NM_004630.3,NM_001346363.1;SF1,intron_variant,,ENST00000377394,NM_201997.2;SF1,intron_variant,,ENST00000626028,;SF1,upstream_gene_variant,,ENST00000432725,;SF1,upstream_gene_variant,,ENST00000433274,NM_001178031.1;AP001462.1,upstream_gene_variant,,ENST00000594089,;SF1,intron_variant,,ENST00000633899,;SF1,missense_variant,p.Val24Gly,ENST00000413951,;SF1,intron_variant,,ENST00000448404,NM_001346410.1,NM_001346409.1;SF1,intron_variant,,ENST00000463343,;SF1,intron_variant,,ENST00000482693,;SF1,upstream_gene_variant,,ENST00000472725,;,regulatory_region_variant,,ENSR00000040728,; C ENSG00000168066 ENST00000377387 Transcript missense_variant 363/2947 286/2022 96/673 Y/D Tac/Gac 1 -1 SF1 HGNC HGNC:12950 protein_coding YES CCDS53661.1 ENSP00000366604 Q15637 UPI0000074300 NM_001178030.1 deleterious_low_confidence(0.01) benign(0.003) 1/13 Prints_domain:PR01217,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF45,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAC . . 64778107 SLC29A2 . GRCh38 chr11 66371591 66371591 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.1A>C p.Met1? p.M1? ENST00000357440 1/12 109 90 13 36 35 1 SLC29A2,start_lost,p.Met1?,ENST00000357440,NM_001532.2;SLC29A2,start_lost,p.Met1?,ENST00000546034,;SLC29A2,start_lost,p.Met1?,ENST00000544554,NM_001300868.1;SLC29A2,start_lost,p.Met1?,ENST00000619145,;SLC29A2,start_lost,p.Met1?,ENST00000311161,NM_001300869.1;RF00017,downstream_gene_variant,,ENST00000615369,;SLC29A2,start_lost,p.Met1?,ENST00000540386,;SLC29A2,start_lost,p.Met1?,ENST00000541567,;,regulatory_region_variant,,ENSR00000040963,; G ENSG00000174669 ENST00000357440 Transcript start_lost 230/2514 1/1371 1/456 M/L Atg/Ctg 1 -1 SLC29A2 HGNC HGNC:11004 protein_coding YES CCDS8137.1 ENSP00000350024 Q14542 UPI000013F0E7 NM_001532.2 deleterious(0) possibly_damaging(0.661) 1/12 hmmpanther:PTHR10332:SF8,hmmpanther:PTHR10332 HIGH 1 SNV 1 PASS ATG . . 66371591 ARHGEF17 . GRCh38 chr11 73308639 73308639 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.1A>C p.Met1? p.M1? ENST00000263674 1/21 105 90 13 46 45 0 ARHGEF17,start_lost,p.Met1?,ENST00000263674,NM_014786.3;ARHGEF17,upstream_gene_variant,,ENST00000544519,;AP002761.3,intron_variant,,ENST00000546324,;,regulatory_region_variant,,ENSR00000041856,; C ENSG00000110237 ENST00000263674 Transcript start_lost 351/7853 1/6192 1/2063 M/L Atg/Ctg 1 1 ARHGEF17 HGNC HGNC:21726 protein_coding YES CCDS8221.1 ENSP00000263674 Q96PE2 UPI000004980B NM_014786.3 deleterious_low_confidence(0.03) benign(0.007) 1/21 HIGH 1 SNV 1 PASS TAT . . 73308639 RNF169 . GRCh38 chr11 74749075 74749075 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.195A>C p.Glu65Asp p.E65D ENST00000299563 1/6 93 77 16 40 40 0 RNF169,missense_variant,p.Glu65Asp,ENST00000299563,NM_001098638.1;,regulatory_region_variant,,ENSR00000042037,;AP001324.1,upstream_gene_variant,,ENST00000428553,; C ENSG00000166439 ENST00000299563 Transcript missense_variant 208/7823 195/2127 65/708 E/D gaA/gaC 1 1 RNF169 HGNC HGNC:26961 protein_coding YES CCDS41691.1 ENSP00000299563 Q8NCN4 UPI00001C1F15 NM_001098638.1 deleterious(0.02) benign(0.007) 1/6 Gene3D:3.30.40.10,Pfam_domain:PF13920,hmmpanther:PTHR23328,hmmpanther:PTHR23328:SF2,Superfamily_domains:SSF57850,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 74749075 TPBGL . GRCh38 chr11 75241365 75241365 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.316A>C p.Ile106Leu p.I106L ENST00000562197 1/1 116 91 19 35 33 0 TPBGL,missense_variant,p.Ile106Leu,ENST00000562197,NM_001195528.1;AP001972.3,upstream_gene_variant,,ENST00000530792,;AP001972.3,upstream_gene_variant,,ENST00000603012,;,regulatory_region_variant,,ENSR00000042099,; C ENSG00000261594 ENST00000562197 Transcript missense_variant 461/2793 316/1149 106/382 I/L Atc/Ctc 1 1 TPBGL HGNC HGNC:44159 protein_coding YES CCDS60895.1 ENSP00000474988 P0DKB5 UPI000044B6CB NM_001195528.1 deleterious(0.02) possibly_damaging(0.898) 1/1 hmmpanther:PTHR24364,hmmpanther:PTHR24364:SF16,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV PASS CAT . . 75241365 ATM . GRCh38 chr11 108252857 108252857 + Missense_Mutation SNP C C A novel 7316-487 BS_3C702XH4 C C c.1843C>A p.Leu615Ile p.L615I ENST00000278616 12/63 67 57 7 36 36 0 ATM,missense_variant,p.Leu615Ile,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Leu615Ile,ENST00000452508,NM_001351834.1;ATM,missense_variant,p.Leu615Ile,ENST00000527805,;ATM,non_coding_transcript_exon_variant,,ENST00000525012,;ATM,non_coding_transcript_exon_variant,,ENST00000533526,; A ENSG00000149311 ENST00000278616 Transcript missense_variant 2228/13147 1843/9171 615/3056 L/I Ctc/Atc 1 1 ATM HGNC HGNC:795 protein_coding YES CCDS31669.1 ENSP00000278616 Q13315 A0A024R3C7 UPI000016B511 NM_000051.3 deleterious(0) probably_damaging(1) 12/63 PDB-ENSP_mappings:5np0.A,PDB-ENSP_mappings:5np0.B,PDB-ENSP_mappings:5np1.A,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF96 MODERATE 1 SNV 5 1 PASS TCT . . 108252857 FDX1 . GRCh38 chr11 110430239 110430239 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.119A>C p.Asn40Thr p.N40T ENST00000260270 1/4 112 94 15 41 40 0 FDX1,missense_variant,p.Asn40Thr,ENST00000260270,NM_004109.4;,regulatory_region_variant,,ENSR00000044710,; C ENSG00000137714 ENST00000260270 Transcript missense_variant 357/3206 119/555 40/184 N/T aAc/aCc 1 1 FDX1 HGNC HGNC:3638 protein_coding YES CCDS8344.1 ENSP00000260270 P10109 UPI0000125630 NM_004109.4 tolerated(0.65) benign(0) 1/4 hmmpanther:PTHR23426,hmmpanther:PTHR23426:SF26,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 110430239 KMT2A . GRCh38 chr11 118436631 118436631 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.119T>G p.Leu40Arg p.L40R ENST00000534358 1/36 83 58 16 45 45 0 KMT2A,missense_variant,p.Leu40Arg,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Leu40Arg,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Leu40Arg,ENST00000531904,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000529852,;KMT2A,upstream_gene_variant,,ENST00000532204,;KMT2A,upstream_gene_variant,,ENST00000533790,;AP001267.2,upstream_gene_variant,,ENST00000532619,;,regulatory_region_variant,,ENSR00000045630,; G ENSG00000118058 ENST00000534358 Transcript missense_variant 142/16602 119/11919 40/3972 L/R cTt/cGt 1 1 KMT2A HGNC HGNC:7132 protein_coding YES CCDS55791.1 ENSP00000436786 Q03164 UPI0001E5E732 NM_001197104.1 tolerated_low_confidence(0.28) benign(0.047) 1/36 PIRSF_domain:PIRSF010354,mobidb-lite MODERATE 1 SNV 1 1 PASS CTT . . 118436631 KMT2A . GRCh38 chr11 118436649 118436649 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.137T>G p.Val46Gly p.V46G ENST00000534358 1/36 81 60 13 38 37 0 KMT2A,missense_variant,p.Val46Gly,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Val46Gly,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Val46Gly,ENST00000531904,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000529852,;KMT2A,upstream_gene_variant,,ENST00000532204,;KMT2A,upstream_gene_variant,,ENST00000533790,;AP001267.2,upstream_gene_variant,,ENST00000532619,;,regulatory_region_variant,,ENSR00000045630,; G ENSG00000118058 ENST00000534358 Transcript missense_variant 160/16602 137/11919 46/3972 V/G gTc/gGc 1 1 KMT2A HGNC HGNC:7132 protein_coding YES CCDS55791.1 ENSP00000436786 Q03164 UPI0001E5E732 NM_001197104.1 deleterious_low_confidence(0.01) benign(0) 1/36 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTC . . 118436649 C2CD2L . GRCh38 chr11 119107897 119107897 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.156A>C p.Leu52Phe p.L52F ENST00000336702 1/14 72 54 8 37 36 1 C2CD2L,missense_variant,p.Leu52Phe,ENST00000336702,NM_001290474.1,NM_014807.4;DPAGT1,5_prime_UTR_variant,,ENST00000409993,;C2CD2L,upstream_gene_variant,,ENST00000528586,;C2CD2L,downstream_gene_variant,,ENST00000527854,;C2CD2L,downstream_gene_variant,,ENST00000528271,;C2CD2L,downstream_gene_variant,,ENST00000529600,;C2CD2L,downstream_gene_variant,,ENST00000529885,;C2CD2L,downstream_gene_variant,,ENST00000534024,;C2CD2L,upstream_gene_variant,,ENST00000525598,;C2CD2L,upstream_gene_variant,,ENST00000529874,;C2CD2L,upstream_gene_variant,,ENST00000533458,;,regulatory_region_variant,,ENSR00000045727,; C ENSG00000172375 ENST00000336702 Transcript missense_variant 515/4771 156/2124 52/707 L/F ttA/ttC 1 1 C2CD2L HGNC HGNC:29000 protein_coding YES CCDS8413.1 ENSP00000338885 O14523 UPI0000192105 NM_001290474.1,NM_014807.4 tolerated(0.71) benign(0.001) 1/14 hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF8,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAG . . 119107897 TECTA . GRCh38 chr11 121127958 121127958 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.1981A>C p.Met661Leu p.M661L ENST00000392793 9/24 84 73 10 55 55 0 TECTA,missense_variant,p.Met661Leu,ENST00000392793,;TECTA,missense_variant,p.Met661Leu,ENST00000642222,;TECTA,missense_variant,p.Met661Leu,ENST00000264037,NM_005422.2;TECTA,upstream_gene_variant,,ENST00000645008,; C ENSG00000109927 ENST00000392793 Transcript missense_variant 2252/7426 1981/6468 661/2155 M/L Atg/Ctg 1 1 TECTA HGNC HGNC:11720 protein_coding YES CCDS8434.1 ENSP00000376543 O75443 UPI000045659D tolerated(1) benign(0) 9/24 Gene3D:2.10.25.10,Pfam_domain:PF12714,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF235,SMART_domains:SM00215 MODERATE 1 SNV 5 1 PASS CAT . . 121127958 SCNN1A . GRCh38 chr12 6363534 6363534 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.770A>C p.His257Pro p.H257P ENST00000360168 2/12 104 92 6 37 37 0 SCNN1A,missense_variant,p.His257Pro,ENST00000360168,NM_001159576.1;SCNN1A,missense_variant,p.His198Pro,ENST00000228916,NM_001038.5;SCNN1A,missense_variant,p.His221Pro,ENST00000543768,NM_001159575.1;SCNN1A,missense_variant,p.His198Pro,ENST00000396966,;SCNN1A,5_prime_UTR_variant,,ENST00000540037,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000542966,;SCNN1A,intron_variant,,ENST00000538979,;SCNN1A,downstream_gene_variant,,ENST00000536176,;SCNN1A,upstream_gene_variant,,ENST00000541249,;SCNN1A,downstream_gene_variant,,ENST00000544882,;SCNN1A,missense_variant,p.His198Pro,ENST00000338748,;,regulatory_region_variant,,ENSR00000048291,; G ENSG00000111319 ENST00000360168 Transcript missense_variant 1034/3481 770/2187 257/728 H/P cAc/cCc 1 -1 SCNN1A HGNC HGNC:10599 protein_coding YES CCDS53738.1 ENSP00000353292 P37088 UPI00001B07D7 NM_001159576.1 tolerated(0.22) benign(0.134) 2/12 Gene3D:2.60.470.10,Pfam_domain:PF00858,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF124,TIGRFAM_domain:TIGR00859 MODERATE 1 SNV 1 1 PASS GTG . . 6363534 SLC48A1 . GRCh38 chr12 47773426 47773426 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.122T>G p.Met41Arg p.M41R ENST00000442218 1/3 118 94 12 39 38 0 SLC48A1,missense_variant,p.Met41Arg,ENST00000442218,NM_017842.2;SLC48A1,intron_variant,,ENST00000442892,;SLC48A1,intron_variant,,ENST00000547002,;SLC48A1,intron_variant,,ENST00000548498,;SLC48A1,intron_variant,,ENST00000549243,;RAPGEF3,upstream_gene_variant,,ENST00000548919,;RAPGEF3,upstream_gene_variant,,ENST00000549151,;AC004241.4,downstream_gene_variant,,ENST00000622792,;SLC48A1,upstream_gene_variant,,ENST00000461620,;SLC48A1,upstream_gene_variant,,ENST00000476104,;SLC48A1,missense_variant,p.Met41Arg,ENST00000551301,;,regulatory_region_variant,,ENSR00000051447,; G ENSG00000211584 ENST00000442218 Transcript missense_variant 219/3010 122/441 41/146 M/R aTg/aGg 1 1 SLC48A1 HGNC HGNC:26035 protein_coding YES CCDS8755.2 ENSP00000415998 Q6P1K1 UPI00001FC0AF NM_017842.2 tolerated(0.32) possibly_damaging(0.6) 1/3 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR31525:SF1,hmmpanther:PTHR31525,Pfam_domain:PF16954,Prints_domain:PR02095 MODERATE 1 SNV 1 PASS ATG . . 47773426 COL2A1 . GRCh38 chr12 47980667 47980667 + Splice_Region SNP A A C novel 7316-487 BS_3C702XH4 A A c.2518-6T>G ENST00000380518 85 71 10 52 51 1 COL2A1,splice_region_variant,,ENST00000337299,NM_033150.2;COL2A1,splice_region_variant,,ENST00000380518,NM_001844.4;COL2A1,splice_region_variant,,ENST00000493991,;COL2A1,downstream_gene_variant,,ENST00000483376,;COL2A1,upstream_gene_variant,,ENST00000546974,; C ENSG00000139219 ENST00000380518 Transcript splice_region_variant,intron_variant 1 -1 COL2A1 HGNC HGNC:2200 protein_coding YES CCDS41778.1 ENSP00000369889 P02458 UPI0000D79713 NM_001844.4 38/53 LOW 1 SNV 1 1 PASS AAT . . 47980667 KMT2D . GRCh38 chr12 49050436 49050436 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.3152T>G p.Val1051Gly p.V1051G ENST00000301067 11/54 78 65 11 34 34 0 KMT2D,missense_variant,p.Val1051Gly,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000547610,; C ENSG00000167548 ENST00000301067 Transcript missense_variant 3152/19419 3152/16614 1051/5537 V/G gTt/gGt 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 deleterious_low_confidence(0) benign(0.01) 11/54 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS AAC . . 49050436 SMARCD1 . GRCh38 chr12 50085466 50085466 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.97A>C p.Thr33Pro p.T33P ENST00000394963 1/13 95 80 14 31 28 1 SMARCD1,missense_variant,p.Thr33Pro,ENST00000394963,NM_003076.4;SMARCD1,missense_variant,p.Thr33Pro,ENST00000381513,NM_139071.2;SMARCD1,missense_variant,p.Thr33Pro,ENST00000550477,;SMARCD1,missense_variant,p.Thr33Pro,ENST00000551966,;ASIC1,downstream_gene_variant,,ENST00000228468,NM_020039.3;ASIC1,downstream_gene_variant,,ENST00000447966,NM_001095.3;ASIC1,downstream_gene_variant,,ENST00000453327,;SMARCD1,upstream_gene_variant,,ENST00000548573,;SMARCD1,upstream_gene_variant,,ENST00000551497,;ASIC1,downstream_gene_variant,,ENST00000552438,NM_001256830.1;ASIC1,downstream_gene_variant,,ENST00000552633,;SMARCD1,non_coding_transcript_exon_variant,,ENST00000547247,;SMARCD1,non_coding_transcript_exon_variant,,ENST00000547637,;ASIC1,downstream_gene_variant,,ENST00000550558,;ASIC1,downstream_gene_variant,,ENST00000551199,;,regulatory_region_variant,,ENSR00000051722,; C ENSG00000066117 ENST00000394963 Transcript missense_variant 495/3658 97/1548 33/515 T/P Act/Cct 1 1 SMARCD1 HGNC HGNC:11106 protein_coding YES CCDS8797.2 ENSP00000378414 Q96GM5 UPI00001A92EC NM_003076.4 tolerated_low_confidence(0.23) benign(0) 1/13 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF1 MODERATE 1 SNV 1 1 PASS AAC . . 50085466 COQ10A . GRCh38 chr12 56267248 56267248 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.130A>C p.Met44Leu p.M44L ENST00000308197 1/5 78 54 14 36 36 0 COQ10A,missense_variant,p.Met44Leu,ENST00000308197,NM_144576.3;CS,downstream_gene_variant,,ENST00000351328,NM_004077.2;COQ10A,upstream_gene_variant,,ENST00000433805,NM_001099337.1;COQ10A,upstream_gene_variant,,ENST00000546544,;CS,downstream_gene_variant,,ENST00000548567,;CS,downstream_gene_variant,,ENST00000548746,;COQ10A,upstream_gene_variant,,ENST00000551814,;COQ10A,upstream_gene_variant,,ENST00000553234,;AC073896.5,downstream_gene_variant,,ENST00000546464,;COQ10A,non_coding_transcript_exon_variant,,ENST00000551911,;COQ10A,non_coding_transcript_exon_variant,,ENST00000551566,;COQ10A,upstream_gene_variant,,ENST00000546614,;CS,downstream_gene_variant,,ENST00000549143,;COQ10A,upstream_gene_variant,,ENST00000549545,;COQ10A,upstream_gene_variant,,ENST00000550071,;,regulatory_region_variant,,ENSR00000052497,; C ENSG00000135469 ENST00000308197 Transcript missense_variant 391/1652 130/744 44/247 M/L Atg/Ctg 1 1 COQ10A HGNC HGNC:26515 protein_coding YES CCDS41796.1 ENSP00000312587 Q96MF6 UPI000013CF99 NM_144576.3 tolerated(0.34) benign(0) 1/5 hmmpanther:PTHR12901,hmmpanther:PTHR12901:SF8 MODERATE 1 SNV 1 PASS AAT . . 56267248 SOCS2 . GRCh38 chr12 93572929 93572929 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.32A>C p.Asn11Thr p.N11T ENST00000622746 2/3 91 73 17 32 32 0 SOCS2,missense_variant,p.Asn11Thr,ENST00000548537,;SOCS2,missense_variant,p.Asn11Thr,ENST00000622746,NM_001270469.1,NM_001270470.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000340600,NM_001270471.1,NM_003877.4;SOCS2,missense_variant,p.Asn11Thr,ENST00000549122,;SOCS2,missense_variant,p.Asn11Thr,ENST00000549206,NM_001270467.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000551556,;SOCS2,missense_variant,p.Asn11Thr,ENST00000536696,NM_001270468.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000549887,;SOCS2,missense_variant,p.Asn11Thr,ENST00000548091,;SOCS2,downstream_gene_variant,,ENST00000547229,;SOCS2,upstream_gene_variant,,ENST00000549510,;SOCS2,upstream_gene_variant,,ENST00000551883,;SOCS2-AS1,upstream_gene_variant,,ENST00000499137,;SOCS2-AS1,upstream_gene_variant,,ENST00000500986,;SOCS2-AS1,upstream_gene_variant,,ENST00000551626,;,regulatory_region_variant,,ENSR00000055617,; C ENSG00000120833 ENST00000622746 Transcript missense_variant 751/2881 32/597 11/198 N/T aAt/aCt 1 1 SOCS2 HGNC HGNC:19382 protein_coding YES CCDS9047.1 ENSP00000481249 O14508 A0A024RBD2 UPI0000135B63 NM_001270469.1,NM_001270470.1 tolerated_low_confidence(0.07) benign(0) 2/3 hmmpanther:PTHR44396,hmmpanther:PTHR44396:SF2,mobidb-lite MODERATE SNV 3 PASS AAT . . 93572929 CKAP4 . GRCh38 chr12 106247488 106247488 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.364T>G p.Phe122Val p.F122V ENST00000378026 1/2 124 102 13 45 45 0 CKAP4,missense_variant,p.Phe122Val,ENST00000378026,NM_006825.3;CKAP4,intron_variant,,ENST00000553039,;AC079174.1,upstream_gene_variant,,ENST00000552486,;AC079174.2,upstream_gene_variant,,ENST00000611145,;CKAP4,intron_variant,,ENST00000552828,;,regulatory_region_variant,,ENSR00000056842,; C ENSG00000136026 ENST00000378026 Transcript missense_variant 501/3093 364/1809 122/602 F/V Ttc/Gtc 1 -1 CKAP4 HGNC HGNC:16991 protein_coding YES CCDS9103.1 ENSP00000367265 Q07065 A0A024RBH2 UPI00000723B9 NM_006825.3 tolerated(0.13) benign(0.395) 1/2 hmmpanther:PTHR45161,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 106247488 CKAP4 . GRCh38 chr12 106247834 106247834 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.18A>C p.Gln6His p.Q6H ENST00000378026 1/2 77 55 11 34 34 0 CKAP4,missense_variant,p.Gln6His,ENST00000378026,NM_006825.3;CKAP4,intron_variant,,ENST00000553039,;AC079174.1,upstream_gene_variant,,ENST00000552486,;AC079174.2,upstream_gene_variant,,ENST00000611145,;CKAP4,intron_variant,,ENST00000552828,;,regulatory_region_variant,,ENSR00000056842,; G ENSG00000136026 ENST00000378026 Transcript missense_variant 155/3093 18/1809 6/602 Q/H caA/caC 1 -1 CKAP4 HGNC HGNC:16991 protein_coding YES CCDS9103.1 ENSP00000367265 Q07065 A0A024RBH2 UPI00000723B9 NM_006825.3 deleterious_low_confidence(0) benign(0.015) 1/2 mobidb-lite MODERATE 1 SNV 1 PASS TTT . . 106247834 CABP1 . GRCh38 chr12 120641295 120641295 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.610T>G p.Phe204Val p.F204V ENST00000316803 1/6 91 70 15 43 42 0 CABP1,missense_variant,p.Phe204Val,ENST00000316803,NM_001033677.1;AC125616.1,intron_variant,,ENST00000540369,;AC125616.1,upstream_gene_variant,,ENST00000544339,;,regulatory_region_variant,,ENSR00000058337,; G ENSG00000157782 ENST00000316803 Transcript missense_variant 744/1658 610/1113 204/370 F/V Ttc/Gtc 1 1 CABP1 HGNC HGNC:1384 protein_coding YES CCDS31913.1 ENSP00000317310 Q9NZU7 UPI00005B3D8A NM_001033677.1 tolerated_low_confidence(0.14) benign(0.076) 1/6 hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF304 MODERATE 1 SNV 1 PASS GTT . . 120641295 RFXAP . GRCh38 chr13 36819551 36819551 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.194T>G p.Val65Gly p.V65G ENST00000255476 1/3 96 76 10 45 43 1 RFXAP,missense_variant,p.Val65Gly,ENST00000255476,;,regulatory_region_variant,,ENSR00000061326,; G ENSG00000133111 ENST00000255476 Transcript missense_variant 328/2304 194/819 65/272 V/G gTt/gGt 1 1 RFXAP HGNC HGNC:9988 protein_coding YES CCDS9359.1 ENSP00000255476 O00287 UPI0000133812 tolerated_low_confidence(0.45) benign(0) 1/3 hmmpanther:PTHR15110 MODERATE 1 SNV 1 1 PASS GTT . . 36819551 FOXO1 . GRCh38 chr13 40666212 40666212 + Translation_Start_Site SNP T T G 7316-487 BS_3C702XH4 T T c.1A>C p.Met1? p.M1? ENST00000379561 1/3 88 72 10 26 26 0 FOXO1,start_lost,p.Met1?,ENST00000379561,NM_002015.3;,regulatory_region_variant,,ENSR00000061699,; G ENSG00000150907 ENST00000379561 Transcript start_lost 386/5735 1/1968 1/655 M/L Atg/Ctg COSM220987,COSM220986,COSM220646,COSM220645 1 -1 FOXO1 HGNC HGNC:3819 protein_coding YES CCDS9371.1 ENSP00000368880 Q12778 UPI000013DC20 NM_002015.3 tolerated(0.07) benign(0) 1/3 mobidb-lite 1,1,1,1 HIGH 1 SNV 1 1,1,1,1 1 PASS ATG . . 40666212 DLEU7 . GRCh38 chr13 50843627 50843627 + Nonsense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.20T>G p.Leu7Ter p.L7* ENST00000504404 1/2 89 72 14 32 31 0 DLEU7,stop_gained,p.Leu7Ter,ENST00000400393,NM_198989.3;DLEU7,stop_gained,p.Leu7Ter,ENST00000504404,NM_001306135.1;DLEU7-AS1,intron_variant,,ENST00000413510,;,regulatory_region_variant,,ENSR00000062939,; C ENSG00000186047 ENST00000504404 Transcript stop_gained 70/1122 20/666 7/221 L/* tTa/tGa 1 -1 DLEU7 HGNC HGNC:17567 protein_coding YES CCDS76635.1 ENSP00000427177 Q6UYE1 UPI0000225CA2 NM_001306135.1 1/2 hmmpanther:PTHR36961 HIGH 1 SNV 1 PASS TAA . . 50843627 FAM124A . GRCh38 chr13 51251650 51251650 + Missense_Mutation SNP A A C rs1376115207 7316-487 BS_3C702XH4 A A c.391A>C p.Lys131Gln p.K131Q ENST00000280057 4/5 109 98 11 35 35 0 FAM124A,missense_variant,p.Lys95Gln,ENST00000322475,NM_001242312.1;FAM124A,missense_variant,p.Lys95Gln,ENST00000615498,NM_001330522.1;FAM124A,missense_variant,p.Lys131Gln,ENST00000280057,NM_145019.3; C ENSG00000150510 ENST00000280057 Transcript missense_variant 522/2104 391/1749 131/582 K/Q Aag/Cag rs1376115207 1 1 FAM124A HGNC HGNC:26413 protein_coding YES CCDS9427.1 ENSP00000280057 Q86V42 UPI0000140E33 NM_145019.3 tolerated(0.13) benign(0.226) 4/5 hmmpanther:PTHR14715:SF4,hmmpanther:PTHR14715,Pfam_domain:PF15067 MODERATE 1 SNV 2 PASS CAA . . 1.541e-05 0.000181 1.196e-05 51251650 DACH1 . GRCh38 chr13 71866498 71866498 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.272A>C p.Asn91Thr p.N91T ENST00000613252 1/11 68 49 12 43 42 0 DACH1,missense_variant,p.Asn91Thr,ENST00000613252,NM_080759.5;DACH1,missense_variant,p.Asn91Thr,ENST00000611519,NM_080760.5;DACH1,missense_variant,p.Asn91Thr,ENST00000620444,NM_004392.6;DACH1,missense_variant,p.Asn91Thr,ENST00000619232,;,regulatory_region_variant,,ENSR00000063548,; G ENSG00000276644 ENST00000613252 Transcript missense_variant 695/5233 272/2121 91/706 N/T aAc/aCc 1 -1 DACH1 HGNC HGNC:2663 protein_coding YES CCDS41899.1 ENSP00000482245 Q9UI36 UPI000007308B NM_080759.5 deleterious_low_confidence(0.03) benign(0.007) 1/11 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 71866498 DACH1 . GRCh38 chr13 71866640 71866640 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.130A>C p.Ile44Leu p.I44L ENST00000613252 1/11 72 56 9 51 49 0 DACH1,missense_variant,p.Ile44Leu,ENST00000613252,NM_080759.5;DACH1,missense_variant,p.Ile44Leu,ENST00000611519,NM_080760.5;DACH1,missense_variant,p.Ile44Leu,ENST00000620444,NM_004392.6;DACH1,missense_variant,p.Ile44Leu,ENST00000619232,;,regulatory_region_variant,,ENSR00000063548,; G ENSG00000276644 ENST00000613252 Transcript missense_variant 553/5233 130/2121 44/706 I/L Atc/Ctc 1 -1 DACH1 HGNC HGNC:2663 protein_coding YES CCDS41899.1 ENSP00000482245 Q9UI36 UPI000007308B NM_080759.5 deleterious_low_confidence(0) benign(0) 1/11 hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF14,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATG . . 71866640 LMO7DN . GRCh38 chr13 75871247 75871248 + Splice_Region DEL TC TC - rs754980622 7316-487 BS_3C702XH4 TC TC c.117+19_117+20del ENST00000318245 72 53 8 44 36 0 LMO7DN,splice_region_variant,,ENST00000318245,NM_001257995.1; - ENSG00000178734 ENST00000318245 Transcript splice_region_variant,intron_variant rs754980622 1 1 LMO7DN HGNC HGNC:44370 protein_coding YES CCDS58298.1 ENSP00000317235 F2Z398 UPI0000140288 NM_001257995.1 1/3 LOW 1 deletion 2 15 PASS TATCT . . 0.02342 0.009556 0.02282 0.03345 0.01566 0.02029 0.02253 0.0214 0.03098 75871246 POU4F1 . GRCh38 chr13 78601490 78601490 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1185A>C p.Lys395Asn p.K395N ENST00000377208 2/2 91 76 5 38 37 0 POU4F1,missense_variant,p.Lys395Asn,ENST00000377208,NM_006237.3;RNF219-AS1,intron_variant,,ENST00000430549,;RNF219-AS1,intron_variant,,ENST00000444769,;RNF219-AS1,intron_variant,,ENST00000560209,;RNF219-AS1,intron_variant,,ENST00000560584,;RNF219-AS1,intron_variant,,ENST00000606124,;RNF219-AS1,intron_variant,,ENST00000606376,;RNF219-AS1,intron_variant,,ENST00000606429,;RNF219-AS1,intron_variant,,ENST00000607205,;RNF219-AS1,intron_variant,,ENST00000607220,;RNF219-AS1,intron_variant,,ENST00000607860,;AL445209.1,downstream_gene_variant,,ENST00000607269,;,regulatory_region_variant,,ENSR00000064096,; G ENSG00000152192 ENST00000377208 Transcript missense_variant 1419/4547 1185/1260 395/419 K/N aaA/aaC 1 -1 POU4F1 HGNC HGNC:9218 protein_coding YES CCDS31996.1 ENSP00000366413 Q01851 UPI000013DCAA NM_006237.3 deleterious(0) benign(0.362) 2/2 Gene3D:1.10.10.60,Pfam_domain:PF00046,Prints_domain:PR00028,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF42,SMART_domains:SM00389,Superfamily_domains:SSF46689,cd00086 MODERATE 1 SNV 1 PASS TTT . . 78601490 POTEG . GRCh38 chr14 19433854 19433854 + Missense_Mutation SNP C C T rs79870143 7316-487 BS_3C702XH4 C C c.436G>A p.Ala146Thr p.A146T ENST00000547848 1/11 55 42 13 19 19 0 POTEG,missense_variant,p.Ala146Thr,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Ala146Thr,ENST00000547722,;POTEG,missense_variant,p.Ala146Thr,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; T ENSG00000187537 ENST00000547848 Transcript missense_variant 488/2204 436/1527 146/508 A/T Gct/Act rs79870143,COSM3999184,COSM3999183 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 deleterious(0) probably_damaging(1) 1/11 Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56,Superfamily_domains:SSF48403 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GCT . . 0.06964 0.2469 0.04951 0.03751 0.01244 0.02064 0.09309 0.08519 0.06021 19433854 JPH4 . GRCh38 chr14 23571253 23571253 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1478A>C p.Lys493Thr p.K493T ENST00000397118 6/7 103 83 12 40 39 0 JPH4,missense_variant,p.Lys493Thr,ENST00000397118,NM_032452.2;JPH4,missense_variant,p.Lys493Thr,ENST00000356300,NM_001146028.1;JPH4,missense_variant,p.Lys494Thr,ENST00000622501,;JPH4,missense_variant,p.Lys158Thr,ENST00000544177,;AP1G2,upstream_gene_variant,,ENST00000308724,NM_001282475.1;AP1G2,upstream_gene_variant,,ENST00000397120,NM_001282474.1,NM_003917.4;AP1G2,upstream_gene_variant,,ENST00000556843,;AP1G2,upstream_gene_variant,,ENST00000557189,;AL135999.1,downstream_gene_variant,,ENST00000555968,;AP1G2,upstream_gene_variant,,ENST00000556277,;AP1G2,upstream_gene_variant,,ENST00000460049,;AP1G2,upstream_gene_variant,,ENST00000465445,;AP1G2,upstream_gene_variant,,ENST00000535852,;JPH4,downstream_gene_variant,,ENST00000553505,;AP1G2,upstream_gene_variant,,ENST00000553629,;AP1G2,upstream_gene_variant,,ENST00000553685,;AP1G2,upstream_gene_variant,,ENST00000553756,;AP1G2,upstream_gene_variant,,ENST00000554069,;AP1G2,upstream_gene_variant,,ENST00000554312,;AP1G2,upstream_gene_variant,,ENST00000554816,;AP1G2,upstream_gene_variant,,ENST00000555896,;AP1G2,upstream_gene_variant,,ENST00000556743,;AP1G2,upstream_gene_variant,,ENST00000556943,;AP1G2,upstream_gene_variant,,ENST00000557482,;AP1G2,upstream_gene_variant,,ENST00000557619,; G ENSG00000092051 ENST00000397118 Transcript missense_variant 2381/4386 1478/1887 493/628 K/T aAa/aCa 1 -1 JPH4 HGNC HGNC:20156 protein_coding YES CCDS9603.1 ENSP00000380307 Q96JJ6 UPI00001C1F68 NM_032452.2 tolerated(0.05) possibly_damaging(0.528) 6/7 PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF14,mobidb-lite MODERATE 1 SNV 1 PASS TTT . . 23571253 JPH4 . GRCh38 chr14 23576301 23576301 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.535T>G p.Leu179Val p.L179V ENST00000397118 4/7 110 95 14 38 38 0 JPH4,missense_variant,p.Leu179Val,ENST00000397118,NM_032452.2;JPH4,missense_variant,p.Leu179Val,ENST00000356300,NM_001146028.1;JPH4,missense_variant,p.Leu180Val,ENST00000622501,;JPH4,upstream_gene_variant,,ENST00000544177,;JPH4,non_coding_transcript_exon_variant,,ENST00000553505,; C ENSG00000092051 ENST00000397118 Transcript missense_variant 1438/4386 535/1887 179/628 L/V Ttg/Gtg 1 -1 JPH4 HGNC HGNC:20156 protein_coding YES CCDS9603.1 ENSP00000380307 Q96JJ6 UPI00001C1F68 NM_032452.2 tolerated(0.56) benign(0.258) 4/7 PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF14,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAG . . 23576301 PRKD1 . GRCh38 chr14 29927466 29927466 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.47T>G p.Val16Gly p.V16G ENST00000415220 1/19 77 58 12 26 26 0 PRKD1,missense_variant,p.Val16Gly,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Val16Gly,ENST00000616995,;PRKD1,missense_variant,p.Val16Gly,ENST00000415220,;PRKD1,intron_variant,,ENST00000549503,;,regulatory_region_variant,,ENSR00000067110,; C ENSG00000184304 ENST00000415220 Transcript missense_variant 177/3189 47/2763 16/920 V/G gTg/gGg 1 -1 PRKD1 HGNC HGNC:9407 protein_coding YES CCDS81796.1 ENSP00000390535 F8WBA3 UPI00020CDFDA tolerated_low_confidence(0.34) benign(0.003) 1/19 Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000552 MODERATE 1 SNV 5 1 PASS CAC . . 29927466 STRN3 . GRCh38 chr14 31026082 31026082 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.104A>C p.Asn35Thr p.N35T ENST00000357479 1/18 111 95 14 26 26 0 STRN3,missense_variant,p.Asn35Thr,ENST00000355683,NM_014574.3;STRN3,missense_variant,p.Asn35Thr,ENST00000357479,NM_001083893.1;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.2;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,missense_variant,p.Asn35Thr,ENST00000555358,;,regulatory_region_variant,,ENSR00000067178,; G ENSG00000196792 ENST00000357479 Transcript missense_variant 301/2799 104/2394 35/797 N/T aAc/aCc 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 tolerated_low_confidence(0.88) benign(0) 1/18 hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS GTT . . 31026082 NPAS3 . GRCh38 chr14 33800592 33800592 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.2285A>C p.Asn762Thr p.N762T ENST00000356141 12/12 67 50 14 39 37 1 NPAS3,missense_variant,p.Asn730Thr,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Asn732Thr,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Asn767Thr,ENST00000551492,;NPAS3,missense_variant,p.Asn762Thr,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Asn749Thr,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Asn736Thr,ENST00000551634,; C ENSG00000151322 ENST00000356141 Transcript missense_variant 2285/2802 2285/2802 762/933 N/T aAc/aCc 1 1 NPAS3 HGNC HGNC:19311 protein_coding YES CCDS53891.1 ENSP00000348460 Q8IXF0 X5D2Q4 UPI00000743C2 NM_001164749.1 tolerated_low_confidence(1) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF30 MODERATE 1 SNV 1 PASS AAC . . 33800592 GPR135 . GRCh38 chr14 59465066 59465066 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.161A>C p.Asn54Thr p.N54T ENST00000395116 1/1 106 79 18 54 53 0 GPR135,missense_variant,p.Asn54Thr,ENST00000395116,NM_022571.5;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,missense_variant,p.Asn54Thr,ENST00000481661,;,regulatory_region_variant,,ENSR00000069182,; G ENSG00000181619 ENST00000395116 Transcript missense_variant 277/4578 161/1485 54/494 N/T aAc/aCc 1 -1 GPR135 HGNC HGNC:19991 protein_coding YES CCDS9738.1 ENSP00000378548 Q8IZ08 UPI0000046D5B NM_022571.5 tolerated_low_confidence(0.07) benign(0.001) 1/1 hmmpanther:PTHR22752:SF3,hmmpanther:PTHR22752 MODERATE 1 SNV PASS GTT . . 59465066 SIX1 . GRCh38 chr14 60648945 60648945 + Missense_Mutation SNP T T G 7316-487 BS_3C702XH4 T T c.245A>C p.Lys82Thr p.K82T ENST00000247182 1/2 94 74 15 42 41 0 SIX1,missense_variant,p.Lys82Thr,ENST00000247182,;SIX1,missense_variant,p.Lys82Thr,ENST00000645694,NM_005982.3;SIX1,intron_variant,,ENST00000554986,;SIX1,intron_variant,,ENST00000553535,;SIX1,intron_variant,,ENST00000555955,;SIX1,downstream_gene_variant,,ENST00000555627,;,regulatory_region_variant,,ENSR00000069254,; G ENSG00000126778 ENST00000247182 Transcript missense_variant 518/3996 245/855 82/284 K/T aAa/aCa COSM956744 1 -1 SIX1 HGNC HGNC:10887 protein_coding YES CCDS9748.1 ENSP00000247182 Q15475 UPI00001359BA deleterious(0.03) possibly_damaging(0.627) 1/2 PDB-ENSP_mappings:4egc.A,Pfam_domain:PF16878,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF13 1 MODERATE 1 SNV 1 1 1 PASS TTT . . 60648945 AL137191.1 . GRCh38 chr14 63123766 63123767 + Splice_Region INS - - A rs1318066301 7316-487 BS_3C702XH4 - - n.87-7dup ENST00000554921 83 50 16 24 24 0 AL137191.1,splice_region_variant,,ENST00000554921,;PARP1P2,downstream_gene_variant,,ENST00000556806,; A ENSG00000259093 ENST00000554921 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1318066301 1 -1 AL137191.1 Clone_based_ensembl_gene lincRNA YES 1/1 LOW 1 insertion 2 PASS GGA . . 63123766 BEGAIN . GRCh38 chr14 100538607 100538607 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.1144T>G p.Phe382Val p.F382V ENST00000443071 6/6 106 89 15 49 47 0 BEGAIN,missense_variant,p.Phe601Val,ENST00000637716,;BEGAIN,missense_variant,p.Phe412Val,ENST00000637646,;BEGAIN,missense_variant,p.Phe382Val,ENST00000443071,NM_001159531.1;BEGAIN,missense_variant,p.Phe382Val,ENST00000355173,NM_020836.3;BEGAIN,downstream_gene_variant,,ENST00000553553,;BEGAIN,downstream_gene_variant,,ENST00000554140,;BEGAIN,downstream_gene_variant,,ENST00000554356,;BEGAIN,downstream_gene_variant,,ENST00000556188,;BEGAIN,downstream_gene_variant,,ENST00000557378,;AL845552.2,upstream_gene_variant,,ENST00000553301,;BEGAIN,non_coding_transcript_exon_variant,,ENST00000556751,;,regulatory_region_variant,,ENSR00000073148,; C ENSG00000183092 ENST00000443071 Transcript missense_variant 1290/2744 1144/1782 382/593 F/V Ttc/Gtc 1 -1 BEGAIN HGNC HGNC:24163 protein_coding YES CCDS9962.1 ENSP00000411124 Q9BUH8 UPI00000710B1 NM_001159531.1 tolerated(0.35) benign(0.322) 6/6 hmmpanther:PTHR28664:SF2,hmmpanther:PTHR28664 MODERATE 1 SNV 1 PASS AAG . . 100538607 TECPR2 . GRCh38 chr14 102497055 102497055 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.3866A>C p.Asn1289Thr p.N1289T ENST00000359520 18/20 76 68 7 43 43 0 TECPR2,missense_variant,p.Asn1289Thr,ENST00000359520,NM_014844.4;ANKRD9,downstream_gene_variant,,ENST00000286918,NM_152326.2;RNU6-244P,upstream_gene_variant,,ENST00000391028,;TECPR2,non_coding_transcript_exon_variant,,ENST00000561099,;TECPR2,upstream_gene_variant,,ENST00000559124,; C ENSG00000196663 ENST00000359520 Transcript missense_variant 4092/8686 3866/4236 1289/1411 N/T aAc/aCc 1 1 TECPR2 HGNC HGNC:19957 protein_coding YES CCDS32162.1 ENSP00000352510 O15040 UPI00001FDC38 NM_014844.4 tolerated(0.15) benign(0.029) 18/20 Pfam_domain:PF06462,hmmpanther:PTHR23287,hmmpanther:PTHR23287:SF16,SMART_domains:SM00706 MODERATE 1 SNV 1 1 PASS AAC . . 102497055 ANKRD9 . GRCh38 chr14 102507607 102507607 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.283T>G p.Phe95Val p.F95V ENST00000286918 4/4 94 77 15 40 40 0 ANKRD9,missense_variant,p.Phe95Val,ENST00000286918,NM_152326.2;ANKRD9,missense_variant,p.Phe95Val,ENST00000559404,;ANKRD9,missense_variant,p.Phe95Val,ENST00000559651,;ANKRD9,missense_variant,p.Phe95Val,ENST00000560748,;ANKRD9,missense_variant,p.Phe95Val,ENST00000557902,; C ENSG00000156381 ENST00000286918 Transcript missense_variant 880/6727 283/954 95/317 F/V Ttc/Gtc 1 -1 ANKRD9 HGNC HGNC:20096 protein_coding YES CCDS9973.1 ENSP00000286918 Q96BM1 UPI000000CC75 NM_152326.2 deleterious(0.01) benign(0.281) 4/4 hmmpanther:PTHR24133,hmmpanther:PTHR24133:SF16,Gene3D:1.25.40.20 MODERATE 1 SNV 1 PASS AAC . . 102507607 PLD4 . GRCh38 chr14 104932009 104932009 + Splice_Region SNP A A C novel 7316-487 BS_3C702XH4 A A c.1080-3A>C ENST00000540372 102 85 12 34 33 1 PLD4,splice_region_variant,,ENST00000392593,NM_138790.3;PLD4,splice_region_variant,,ENST00000540372,NM_001308174.1;PLD4,upstream_gene_variant,,ENST00000553861,;PLD4,downstream_gene_variant,,ENST00000557573,;PLD4,splice_region_variant,,ENST00000472702,;PLD4,downstream_gene_variant,,ENST00000472901,; C ENSG00000166428 ENST00000540372 Transcript splice_region_variant,intron_variant 1 1 PLD4 HGNC HGNC:23792 protein_coding YES CCDS76725.1 ENSP00000438677 F5H2B5 UPI0002065A05 NM_001308174.1 8/10 LOW 1 SNV 2 PASS CAA . . 104932009 NIPA1 . GRCh38 chr15 22786657 22786657 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.1A>C p.Met1? p.M1? ENST00000337435 1/5 84 58 14 34 33 1 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; C ENSG00000170113 ENST00000337435 Transcript start_lost 26/6567 1/990 1/329 M/L Atg/Ctg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS AAT . . 22786657 KLF13 . GRCh38 chr15 31327531 31327531 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.319T>G p.Ser107Ala p.S107A ENST00000307145 1/2 91 56 9 37 35 1 KLF13,missense_variant,p.Ser107Ala,ENST00000307145,NM_015995.3;KLF13,upstream_gene_variant,,ENST00000558921,;,regulatory_region_variant,,ENSR00000074488,; G ENSG00000169926 ENST00000307145 Transcript missense_variant 677/6825 319/867 107/288 S/A Tcc/Gcc 1 1 KLF13 HGNC HGNC:13672 protein_coding YES CCDS10025.1 ENSP00000302456 Q9Y2Y9 X5DNR2 UPI000012DEDC NM_015995.3 tolerated(0.83) benign(0) 1/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTC . . 31327531 KLF13 . GRCh38 chr15 31327544 31327544 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.332A>C p.Glu111Ala p.E111A ENST00000307145 1/2 89 59 12 36 36 0 KLF13,missense_variant,p.Glu111Ala,ENST00000307145,NM_015995.3;KLF13,upstream_gene_variant,,ENST00000558921,;,regulatory_region_variant,,ENSR00000074488,; C ENSG00000169926 ENST00000307145 Transcript missense_variant 690/6825 332/867 111/288 E/A gAa/gCa 1 1 KLF13 HGNC HGNC:13672 protein_coding YES CCDS10025.1 ENSP00000302456 Q9Y2Y9 X5DNR2 UPI000012DEDC NM_015995.3 tolerated(0.41) benign(0) 1/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GAA . . 31327544 ANKRD63 . GRCh38 chr15 40282108 40282108 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.479T>G p.Leu160Arg p.L160R ENST00000434396 1/1 126 110 12 42 42 0 ANKRD63,missense_variant,p.Leu160Arg,ENST00000434396,NM_001190479.2;PAK6,downstream_gene_variant,,ENST00000260404,NM_020168.5;PAK6,downstream_gene_variant,,ENST00000455577,NM_001276718.1;PAK6,downstream_gene_variant,,ENST00000542403,NM_001276717.1,NM_001128629.2;PLCB2,downstream_gene_variant,,ENST00000559671,;PAK6,downstream_gene_variant,,ENST00000560346,;AC020658.5,downstream_gene_variant,,ENST00000622487,;PLCB2,intron_variant,,ENST00000560009,;,regulatory_region_variant,,ENSR00000075488,; C ENSG00000230778 ENST00000434396 Transcript missense_variant 479/1143 479/1143 160/380 L/R cTg/cGg 1 -1 ANKRD63 HGNC HGNC:40027 protein_coding YES CCDS53929.1 ENSP00000399547 C9JTQ0 UPI00016626C9 NM_001190479.2 tolerated(0.06) unknown(0) 1/1 Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF30,Superfamily_domains:SSF48403,cd00204 MODERATE SNV PASS CAG . . 40282108 INAFM2 . GRCh38 chr15 40324384 40324384 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.329T>G p.Val110Gly p.V110G ENST00000638170 1/1 102 80 17 49 48 1 INAFM2,missense_variant,p.Val110Gly,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; G ENSG00000259330 ENST00000638170 Transcript missense_variant 721/3052 329/462 110/153 V/G gTt/gGt 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 tolerated_low_confidence(0.16) unknown(0) 1/1 mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GTT . . 40324384 DUT . GRCh38 chr15 48331765 48331765 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.250A>C p.Lys84Gln p.K84Q ENST00000331200 1/7 96 72 11 32 32 0 DUT,missense_variant,p.Lys84Gln,ENST00000331200,NM_001025248.1;DUT,intron_variant,,ENST00000558472,;DUT,intron_variant,,ENST00000558813,NM_001025249.1;DUT,intron_variant,,ENST00000559416,;DUT,intron_variant,,ENST00000559935,;DUT,upstream_gene_variant,,ENST00000455976,NM_001948.3;DUT,upstream_gene_variant,,ENST00000558367,;DUT,upstream_gene_variant,,ENST00000559540,;AC023355.1,non_coding_transcript_exon_variant,,ENST00000612262,;AC023355.1,non_coding_transcript_exon_variant,,ENST00000560323,;AC023355.1,non_coding_transcript_exon_variant,,ENST00000559134,;DUT,upstream_gene_variant,,ENST00000561350,;DUT,missense_variant,p.Lys84Gln,ENST00000558978,;,regulatory_region_variant,,ENSR00000076158,; C ENSG00000128951 ENST00000331200 Transcript missense_variant 343/2147 250/759 84/252 K/Q Aag/Cag 1 1 DUT HGNC HGNC:3078 protein_coding YES CCDS32231.1 ENSP00000370376 P33316 UPI000035ECE0 NM_001025248.1 tolerated_low_confidence(0.23) benign(0.027) 1/7 mobidb-lite,hmmpanther:PTHR11241,hmmpanther:PTHR11241:SF6 MODERATE 1 SNV 1 PASS TAA . . 48331765 C2CD4A . GRCh38 chr15 62068298 62068298 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.685A>C p.Thr229Pro p.T229P ENST00000355522 2/2 111 90 12 47 47 0 C2CD4A,missense_variant,p.Thr229Pro,ENST00000355522,NM_207322.2;,regulatory_region_variant,,ENSR00000077562,; C ENSG00000198535 ENST00000355522 Transcript missense_variant 826/3445 685/1110 229/369 T/P Acg/Ccg 1 1 C2CD4A HGNC HGNC:33627 protein_coding YES CCDS32258.1 ENSP00000347712 Q8NCU7 UPI0000140CF2 NM_207322.2 tolerated(0.32) benign(0) 2/2 hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF343,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 62068298 AP3B2 . GRCh38 chr15 82709597 82709597 + Missense_Mutation SNP T T G rs1025914031 7316-487 BS_3C702XH4 T T c.110A>C p.Lys37Thr p.K37T ENST00000535359 1/27 101 78 16 53 53 0 AP3B2,missense_variant,p.Lys37Thr,ENST00000542200,NM_001348440.1;AP3B2,missense_variant,p.Lys37Thr,ENST00000261722,;AP3B2,missense_variant,p.Lys37Thr,ENST00000620652,NM_004644.4;AP3B2,missense_variant,p.Lys37Thr,ENST00000535359,NM_001278512.1;AP3B2,missense_variant,p.Lys37Thr,ENST00000535348,NM_001278511.1;AP3B2,non_coding_transcript_exon_variant,,ENST00000560529,;AC105339.1,downstream_gene_variant,,ENST00000440089,;AC105339.1,downstream_gene_variant,,ENST00000440479,;AC105339.1,downstream_gene_variant,,ENST00000559535,;AP3B2,upstream_gene_variant,,ENST00000561455,;AP3B2,non_coding_transcript_exon_variant,,ENST00000535385,;AP3B2,non_coding_transcript_exon_variant,,ENST00000535513,;,regulatory_region_variant,,ENSR00000080236,;AC105339.1,downstream_gene_variant,,ENST00000636249,; G ENSG00000103723 ENST00000535359 Transcript missense_variant 183/3402 110/3306 37/1101 K/T aAg/aCg rs1025914031 1 -1 AP3B2 HGNC HGNC:567 protein_coding YES CCDS61737.1 ENSP00000440984 Q13367 UPI0001917049 NM_001278512.1 tolerated(0.21) benign(0.16) 1/27 hmmpanther:PTHR11134:SF11,hmmpanther:PTHR11134,Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037096 MODERATE 1 SNV 1 1 PASS CTT . . 82709597 PDE8A . GRCh38 chr15 84982189 84982189 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.27T>G p.Ile9Met p.I9M ENST00000310298 2/23 96 82 11 39 39 0 PDE8A,missense_variant,p.Ile9Met,ENST00000310298,;PDE8A,missense_variant,p.Ile9Met,ENST00000394553,NM_002605.2;PDE8A,missense_variant,p.Ile9Met,ENST00000339708,NM_173454.1;PDE8A,intron_variant,,ENST00000557957,NM_001243137.1;PDE8A,missense_variant,p.Ile9Met,ENST00000485596,;PDE8A,missense_variant,p.Ile9Met,ENST00000478717,;PDE8A,missense_variant,p.Ile9Met,ENST00000559742,;PDE8A,upstream_gene_variant,,ENST00000559086,;,regulatory_region_variant,,ENSR00000080483,; G ENSG00000073417 ENST00000310298 Transcript missense_variant 279/3984 27/2490 9/829 I/M atT/atG 1 1 PDE8A HGNC HGNC:8793 protein_coding YES CCDS10336.1 ENSP00000311453 O60658 UPI0000127C00 deleterious_low_confidence(0.01) benign(0.221) 2/23 MODERATE 1 SNV 1 PASS TTT . . 84982189 MESP1 . GRCh38 chr15 89751026 89751026 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.206T>G p.Val69Gly p.V69G ENST00000300057 1/2 117 103 10 48 48 0 MESP1,missense_variant,p.Val69Gly,ENST00000300057,NM_018670.3;MESP1,splice_region_variant,,ENST00000559894,;,regulatory_region_variant,,ENSR00000080949,;MRPL15P1,upstream_gene_variant,,ENST00000559543,; C ENSG00000166823 ENST00000300057 Transcript missense_variant 285/2369 206/807 69/268 V/G gTa/gGa 1 -1 MESP1 HGNC HGNC:29658 protein_coding YES CCDS10355.1 ENSP00000300057 Q9BRJ9 UPI0000070E08 NM_018670.3 tolerated(0.16) benign(0) 1/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR20937,hmmpanther:PTHR20937:SF6,Gene3D:4.10.280.10 MODERATE 1 SNV 1 PASS TAC . . 89751026 SOX8 . GRCh38 chr16 981993 981993 + Missense_Mutation SNP A A T novel 7316-487 BS_3C702XH4 A A c.71A>T p.His24Leu p.H24L ENST00000293894 1/3 97 82 6 47 47 0 SOX8,missense_variant,p.His24Leu,ENST00000293894,NM_014587.4;LMF1,upstream_gene_variant,,ENST00000570014,;AC009041.2,upstream_gene_variant,,ENST00000562570,;AC009041.2,upstream_gene_variant,,ENST00000563837,;AC009041.2,upstream_gene_variant,,ENST00000563863,;AC009041.2,upstream_gene_variant,,ENST00000565069,;AC009041.2,upstream_gene_variant,,ENST00000565467,;AC009041.2,upstream_gene_variant,,ENST00000568394,;LMF1,upstream_gene_variant,,ENST00000545827,NM_001352017.1;SOX8,upstream_gene_variant,,ENST00000566034,;,regulatory_region_variant,,ENSR00000082273,; T ENSG00000005513 ENST00000293894 Transcript missense_variant 186/3049 71/1341 24/446 H/L cAc/cTc 1 1 SOX8 HGNC HGNC:11203 protein_coding YES CCDS10428.1 ENSP00000293894 P57073 UPI00000015FB NM_014587.4 tolerated(0.12) benign(0.158) 1/3 Pfam_domain:PF12444,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF20,mobidb-lite MODERATE 1 SNV 1 PASS CAC . . 981993 SOX8 . GRCh38 chr16 982068 982068 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.146T>G p.Val49Gly p.V49G ENST00000293894 1/3 95 82 11 40 40 0 SOX8,missense_variant,p.Val49Gly,ENST00000293894,NM_014587.4;LMF1,upstream_gene_variant,,ENST00000570014,;AC009041.2,upstream_gene_variant,,ENST00000562570,;AC009041.2,upstream_gene_variant,,ENST00000563837,;AC009041.2,upstream_gene_variant,,ENST00000563863,;AC009041.2,upstream_gene_variant,,ENST00000565069,;AC009041.2,upstream_gene_variant,,ENST00000565467,;AC009041.2,upstream_gene_variant,,ENST00000568394,;LMF1,upstream_gene_variant,,ENST00000545827,NM_001352017.1;SOX8,upstream_gene_variant,,ENST00000566034,;,regulatory_region_variant,,ENSR00000082273,; G ENSG00000005513 ENST00000293894 Transcript missense_variant 261/3049 146/1341 49/446 V/G gTg/gGg 1 1 SOX8 HGNC HGNC:11203 protein_coding YES CCDS10428.1 ENSP00000293894 P57073 UPI00000015FB NM_014587.4 tolerated(0.39) benign(0) 1/3 Pfam_domain:PF12444,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF20,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 982068 GNPTG . GRCh38 chr16 1352099 1352099 + Splice_Region SNP T T G novel 7316-487 BS_3C702XH4 T T c.53-3T>G ENST00000204679 77 61 13 45 43 0 GNPTG,missense_variant,p.Val40Gly,ENST00000529110,;GNPTG,splice_region_variant,,ENST00000204679,NM_032520.4;GNPTG,splice_region_variant,,ENST00000527137,;TSR3,upstream_gene_variant,,ENST00000007390,NM_001001410.2;BAIAP3,downstream_gene_variant,,ENST00000324385,NM_003933.4;BAIAP3,downstream_gene_variant,,ENST00000397488,NM_001286464.1;BAIAP3,downstream_gene_variant,,ENST00000421665,NM_001199096.1;BAIAP3,downstream_gene_variant,,ENST00000426824,NM_001199097.1;BAIAP3,downstream_gene_variant,,ENST00000561793,;BAIAP3,downstream_gene_variant,,ENST00000562208,NM_001199098.1;BAIAP3,downstream_gene_variant,,ENST00000566162,;BAIAP3,downstream_gene_variant,,ENST00000568887,NM_001199099.1;BAIAP3,downstream_gene_variant,,ENST00000628027,;BAIAP3,downstream_gene_variant,,ENST00000564213,;GNPTG,splice_region_variant,,ENST00000526820,;GNPTG,splice_region_variant,,ENST00000527168,;GNPTG,splice_region_variant,,ENST00000527876,;GNPTG,splice_region_variant,,ENST00000529957,;GNPTG,splice_region_variant,,ENST00000534197,;TSR3,upstream_gene_variant,,ENST00000566296,;BAIAP3,downstream_gene_variant,,ENST00000566389,;,regulatory_region_variant,,ENSR00000082335,; G ENSG00000090581 ENST00000204679 Transcript splice_region_variant,intron_variant 1 1 GNPTG HGNC HGNC:23026 protein_coding YES CCDS10436.1 ENSP00000204679 Q9UJJ9 UPI0000073F3C NM_032520.4 1/10 LOW 1 SNV 1 1 PASS GTA . . 1352099 IFT140 . GRCh38 chr16 1526650 1526650 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.2546T>G p.Val849Gly p.V849G ENST00000426508 20/31 123 102 15 47 46 1 IFT140,missense_variant,p.Val849Gly,ENST00000426508,NM_014714.3;IFT140,missense_variant,p.Val43Gly,ENST00000361339,;TMEM204,upstream_gene_variant,,ENST00000253934,NM_001256541.1;AL031719.1,upstream_gene_variant,,ENST00000623365,;IFT140,non_coding_transcript_exon_variant,,ENST00000565298,;IFT140,intron_variant,,ENST00000397417,;IFT140,intron_variant,,ENST00000566818,; C ENSG00000187535 ENST00000426508 Transcript missense_variant 2910/5270 2546/4389 849/1462 V/G gTg/gGg 1 -1 IFT140 HGNC HGNC:29077 protein_coding YES CCDS10439.1 ENSP00000406012 Q96RY7 UPI0000073C64 NM_014714.3 deleterious(0.01) possibly_damaging(0.859) 20/31 Gene3D:1.25.40.10,hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF7 MODERATE 1 SNV 5 1 PASS CAC . . 1526650 HAGH . GRCh38 chr16 1826710 1826710 + Splice_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.76+2T>G p.X26_splice ENST00000397356 82 69 7 58 57 0 HAGH,splice_donor_variant,,ENST00000397353,NM_001040427.1;HAGH,splice_donor_variant,,ENST00000397356,NM_005326.4;HAGH,splice_donor_variant,,ENST00000455446,NM_001286249.1;HAGH,5_prime_UTR_variant,,ENST00000569339,;HAGH,intron_variant,,ENST00000566709,;FAHD1,upstream_gene_variant,,ENST00000382666,NM_001018104.2;FAHD1,upstream_gene_variant,,ENST00000382668,NM_001142398.1;FAHD1,upstream_gene_variant,,ENST00000427358,NM_031208.3;HAGH,upstream_gene_variant,,ENST00000564445,;FAHD1,upstream_gene_variant,,ENST00000615972,;HAGH,splice_donor_variant,,ENST00000564518,;HAGH,splice_donor_variant,,ENST00000565097,;HAGH,splice_donor_variant,,ENST00000569700,;HAGH,upstream_gene_variant,,ENST00000567190,;,regulatory_region_variant,,ENSR00000082394,; C ENSG00000063854 ENST00000397356 Transcript splice_donor_variant 1 -1 HAGH HGNC HGNC:4805 protein_coding YES CCDS10447.2 ENSP00000380514 Q16775 UPI00001FFAD0 NM_005326.4 1/8 HIGH 1 SNV 1 1 PASS CAC . . 1826710 NAGPA . GRCh38 chr16 5033537 5033537 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.278A>C p.His93Pro p.H93P ENST00000312251 2/10 90 73 12 32 30 1 NAGPA,missense_variant,p.His93Pro,ENST00000312251,NM_016256.3;NAGPA,missense_variant,p.His93Pro,ENST00000381955,;NAGPA,missense_variant,p.His33Pro,ENST00000563578,;NAGPA,missense_variant,p.His34Pro,ENST00000562346,;ALG1,upstream_gene_variant,,ENST00000588623,;NAGPA-AS1,intron_variant,,ENST00000588778,;NAGPA-AS1,upstream_gene_variant,,ENST00000632058,;NAGPA,non_coding_transcript_exon_variant,,ENST00000564922,;NAGPA,non_coding_transcript_exon_variant,,ENST00000591478,;NAGPA,upstream_gene_variant,,ENST00000568528,;NAGPA,upstream_gene_variant,,ENST00000569793,;NAGPA,missense_variant,p.His93Pro,ENST00000562746,;NAGPA,missense_variant,p.His36Pro,ENST00000562037,;NAGPA,non_coding_transcript_exon_variant,,ENST00000568202,;NAGPA,non_coding_transcript_exon_variant,,ENST00000561580,;NAGPA,upstream_gene_variant,,ENST00000564397,;NAGPA,upstream_gene_variant,,ENST00000565876,;NAGPA,upstream_gene_variant,,ENST00000567739,;NAGPA,upstream_gene_variant,,ENST00000569296,;,regulatory_region_variant,,ENSR00000082894,; G ENSG00000103174 ENST00000312251 Transcript missense_variant 298/2202 278/1548 93/515 H/P cAc/cCc 1 -1 NAGPA HGNC HGNC:17378 protein_coding YES CCDS10527.1 ENSP00000310998 Q9UK23 UPI000013F295 NM_016256.3 probably_damaging(0.999) 2/10 MODERATE 1 SNV 1 PASS GTG . . 5033537 GGA2 . GRCh38 chr16 23510375 23510375 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.37A>C p.Thr13Pro p.T13P ENST00000309859 1/17 105 93 12 29 29 0 GGA2,missense_variant,p.Thr13Pro,ENST00000309859,NM_015044.4;GGA2,missense_variant,p.Thr13Pro,ENST00000567468,;GGA2,missense_variant,p.Thr13Pro,ENST00000562944,;GGA2,missense_variant,p.Thr6Pro,ENST00000562117,;GGA2,intron_variant,,ENST00000569300,;GGA2,missense_variant,p.Thr13Pro,ENST00000569189,;GGA2,missense_variant,p.Thr13Pro,ENST00000570111,;GGA2,missense_variant,p.Thr13Pro,ENST00000563494,;GGA2,missense_variant,p.Thr13Pro,ENST00000563047,;GGA2,non_coding_transcript_exon_variant,,ENST00000568799,;GGA2,non_coding_transcript_exon_variant,,ENST00000566547,;,regulatory_region_variant,,ENSR00000084557,;,TF_binding_site_variant,,MA0470.1,; G ENSG00000103365 ENST00000309859 Transcript missense_variant 120/5973 37/1842 13/613 T/P Acc/Ccc 1 -1 GGA2 HGNC HGNC:16064 protein_coding YES CCDS10611.1 ENSP00000311962 Q9UJY4 UPI000013EF46 NM_015044.4 tolerated_low_confidence(0.06) benign(0.044) 1/17 MODERATE 1 SNV 1 PASS GTT . . 23510375 SPNS1 . GRCh38 chr16 28975230 28975230 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.79T>G p.Leu27Val p.L27V ENST00000311008 1/12 106 92 12 30 30 0 SPNS1,missense_variant,p.Leu27Val,ENST00000311008,NM_032038.2,NM_001142448.1;SPNS1,missense_variant,p.Leu27Val,ENST00000334536,NM_001142451.1;SPNS1,missense_variant,p.Leu72Val,ENST00000565975,;SPNS1,missense_variant,p.Leu27Val,ENST00000352260,NM_001142449.1;SPNS1,missense_variant,p.Leu16Val,ENST00000566059,;SPNS1,missense_variant,p.Leu12Val,ENST00000564476,;SPNS1,missense_variant,p.Leu27Val,ENST00000567771,;SPNS1,5_prime_UTR_variant,,ENST00000323081,NM_001142450.1;SPNS1,5_prime_UTR_variant,,ENST00000568388,;SPNS1,upstream_gene_variant,,ENST00000568829,;AC109460.1,intron_variant,,ENST00000567209,;SPNS1,upstream_gene_variant,,ENST00000561868,;AC109460.3,non_coding_transcript_exon_variant,,ENST00000569969,;SPNS1,non_coding_transcript_exon_variant,,ENST00000568900,;,regulatory_region_variant,,ENSR00000084951,; G ENSG00000169682 ENST00000311008 Transcript missense_variant 456/2208 79/1587 27/528 L/V Ttg/Gtg 1 1 SPNS1 HGNC HGNC:30621 protein_coding YES CCDS10646.1 ENSP00000309945 Q9H2V7 UPI000004DB99 NM_032038.2,NM_001142448.1 tolerated(0.47) benign(0.001) 1/12 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 28975230 FBRS . GRCh38 chr16 30659520 30659520 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.2T>G p.Met1? p.M1? ENST00000356166 1/18 105 86 12 38 37 1 FBRS,start_lost,p.Met1?,ENST00000356166,NM_001105079.2;FBRS,upstream_gene_variant,,ENST00000287468,;PRR14,downstream_gene_variant,,ENST00000300835,NM_024031.3;PRR14,downstream_gene_variant,,ENST00000542965,NM_001320464.1;PRR14,downstream_gene_variant,,ENST00000568754,;FBRS,upstream_gene_variant,,ENST00000482749,;PRR14,downstream_gene_variant,,ENST00000571654,;PRR14,downstream_gene_variant,,ENST00000287463,;FBRS,upstream_gene_variant,,ENST00000468966,;FBRS,upstream_gene_variant,,ENST00000484152,;FBRS,upstream_gene_variant,,ENST00000498588,;FBRS,upstream_gene_variant,,ENST00000543786,;PRR14,downstream_gene_variant,,ENST00000564946,;PRR14,downstream_gene_variant,,ENST00000565977,;PRR14,downstream_gene_variant,,ENST00000567322,;PRR14,downstream_gene_variant,,ENST00000567989,;,regulatory_region_variant,,ENSR00000085232,; G ENSG00000156860 ENST00000356166 Transcript start_lost 1090/5200 2/2943 1/980 M/R aTg/aGg 1 1 FBRS HGNC HGNC:20442 protein_coding YES CCDS45462.2 ENSP00000348489 J3KNZ9 UPI0000E59D83 NM_001105079.2 deleterious_low_confidence(0) unknown(0) 1/18 mobidb-lite HIGH SNV 5 PASS ATG . . 30659520 FBRS . GRCh38 chr16 30659828 30659828 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.310A>C p.Ser104Arg p.S104R ENST00000356166 1/18 101 75 18 40 39 0 FBRS,missense_variant,p.Ser104Arg,ENST00000356166,NM_001105079.2;FBRS,upstream_gene_variant,,ENST00000287468,;PRR14,downstream_gene_variant,,ENST00000300835,NM_024031.3;PRR14,downstream_gene_variant,,ENST00000542965,NM_001320464.1;FBRS,upstream_gene_variant,,ENST00000482749,;PRR14,downstream_gene_variant,,ENST00000571654,;PRR14,downstream_gene_variant,,ENST00000287463,;FBRS,upstream_gene_variant,,ENST00000468966,;FBRS,upstream_gene_variant,,ENST00000484152,;FBRS,upstream_gene_variant,,ENST00000498588,;FBRS,upstream_gene_variant,,ENST00000543786,;PRR14,downstream_gene_variant,,ENST00000564946,;PRR14,downstream_gene_variant,,ENST00000565977,;PRR14,downstream_gene_variant,,ENST00000567322,;PRR14,downstream_gene_variant,,ENST00000567989,;,regulatory_region_variant,,ENSR00000085232,; C ENSG00000156860 ENST00000356166 Transcript missense_variant 1398/5200 310/2943 104/980 S/R Agc/Cgc 1 1 FBRS HGNC HGNC:20442 protein_coding YES CCDS45462.2 ENSP00000348489 J3KNZ9 UPI0000E59D83 NM_001105079.2 deleterious_low_confidence(0) unknown(0) 1/18 mobidb-lite MODERATE SNV 5 PASS CAG . . 30659828 NOD2 . GRCh38 chr16 50699836 50699836 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.422T>G p.Ile141Ser p.I141S ENST00000300589 2/12 87 75 9 46 46 0 NOD2,missense_variant,p.Ile141Ser,ENST00000300589,NM_022162.2;NOD2,missense_variant,p.Ile114Ser,ENST00000647318,NM_001293557.1;NOD2,missense_variant,p.Ile114Ser,ENST00000531674,;NOD2,non_coding_transcript_exon_variant,,ENST00000526417,;NOD2,non_coding_transcript_exon_variant,,ENST00000532206,;NOD2,missense_variant,p.Ile114Ser,ENST00000646677,;NOD2,missense_variant,p.Ile114Ser,ENST00000641284,;NOD2,3_prime_UTR_variant,,ENST00000527070,;,regulatory_region_variant,,ENSR00000085823,; G ENSG00000167207 ENST00000300589 Transcript missense_variant 527/4486 422/3123 141/1040 I/S aTt/aGt 1 1 NOD2 HGNC HGNC:5331 protein_coding YES CCDS10746.1 ENSP00000300589 Q9HC29 UPI000005027A NM_022162.2 deleterious(0) possibly_damaging(0.697) 2/12 PROSITE_profiles:PS50209,cd08788,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64,Gene3D:1.10.533.10,Superfamily_domains:SSF47986 MODERATE 1 SNV 1 1 PASS ATT . . 50699836 DRC7 . GRCh38 chr16 57697950 57697950 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.1A>C p.Met1? p.M1? ENST00000360716 3/19 93 78 13 35 34 0 DRC7,start_lost,p.Met1?,ENST00000360716,NM_001289162.1;DRC7,start_lost,p.Met1?,ENST00000394337,NM_032269.5;DRC7,start_lost,p.Met1?,ENST00000336825,NM_001289163.1;DRC7,start_lost,p.Met1?,ENST00000563126,;DRC7,start_lost,p.Met1?,ENST00000569375,;DRC7,intron_variant,,ENST00000569167,;AC018552.2,non_coding_transcript_exon_variant,,ENST00000563062,;DRC7,start_lost,p.Met1?,ENST00000564297,; C ENSG00000159625 ENST00000360716 Transcript start_lost 222/3041 1/2625 1/874 M/L Atg/Ctg 1 1 DRC7 HGNC HGNC:25289 protein_coding YES CCDS10787.1 ENSP00000353942 Q8IY82 UPI00001AEB68 NM_001289162.1 deleterious_low_confidence(0) possibly_damaging(0.743) 3/19 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil HIGH 1 SNV 1 PASS AAT . . 57697950 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 75 53 17 52 51 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 ADAD2 . GRCh38 chr16 84195624 84195624 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1225T>G p.Phe409Val p.F409V ENST00000268624 7/11 102 89 12 45 44 0 ADAD2,missense_variant,p.Phe409Val,ENST00000268624,NM_139174.3;ADAD2,missense_variant,p.Phe327Val,ENST00000315906,NM_001145400.1;ADAD2,missense_variant,p.Phe236Val,ENST00000567685,;AC009123.1,intron_variant,,ENST00000536986,;AC009123.1,intron_variant,,ENST00000565643,;AC009123.1,intron_variant,,ENST00000569834,;AC009123.1,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,;ADAD2,upstream_gene_variant,,ENST00000563849,;ADAD2,downstream_gene_variant,,ENST00000564169,;ADAD2,downstream_gene_variant,,ENST00000569221,; G ENSG00000140955 ENST00000268624 Transcript missense_variant 1318/2283 1225/1998 409/665 F/V Ttc/Gtc 1 1 ADAD2 HGNC HGNC:30714 protein_coding YES CCDS10944.1 ENSP00000268624 Q8NCV1 UPI000013D7CA NM_139174.3 deleterious(0.01) possibly_damaging(0.596) 7/11 PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF106,Pfam_domain:PF02137,SMART_domains:SM00552 MODERATE 1 SNV 2 PASS ATT . . 84195624 FOXL1 . GRCh38 chr16 86579343 86579343 + Missense_Mutation SNP A A C rs550925255 7316-487 BS_3C702XH4 A A c.620A>C p.His207Pro p.H207P ENST00000320241 1/1 77 62 11 45 45 0 FOXL1,missense_variant,p.His207Pro,ENST00000320241,NM_005250.2;FOXL1,downstream_gene_variant,,ENST00000593625,; C ENSG00000176678 ENST00000320241 Transcript missense_variant 838/3655 620/1038 207/345 H/P cAc/cCc rs550925255 1 1 FOXL1 HGNC HGNC:3817 protein_coding YES CCDS10959.1 ENSP00000326272 Q12952 UPI000012ADE2 NM_005250.2 tolerated(0.24) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF204 0.0002 0.0008 MODERATE 1 SNV PASS CAC . . 86579343 DVL2 . GRCh38 chr17 7229232 7229232 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.860A>C p.Asn287Thr p.N287T ENST00000005340 8/15 73 61 9 31 31 0 DVL2,missense_variant,p.Asn287Thr,ENST00000005340,NM_004422.2;DVL2,missense_variant,p.Asn281Thr,ENST00000575458,;DVL2,missense_variant,p.Asn283Thr,ENST00000575756,;DVL2,missense_variant,p.Asn221Thr,ENST00000574143,;ACADVL,downstream_gene_variant,,ENST00000350303,NM_001033859.2,NM_001270448.1;ACADVL,downstream_gene_variant,,ENST00000356839,NM_000018.3;ACADVL,downstream_gene_variant,,ENST00000542255,;ACADVL,downstream_gene_variant,,ENST00000543245,NM_001270447.1;DVL2,upstream_gene_variant,,ENST00000575086,;ACADVL,downstream_gene_variant,,ENST00000579546,;DVL2,non_coding_transcript_exon_variant,,ENST00000574642,;ACADVL,downstream_gene_variant,,ENST00000583074,;DVL2,non_coding_transcript_exon_variant,,ENST00000574591,;DVL2,non_coding_transcript_exon_variant,,ENST00000577154,;DVL2,non_coding_transcript_exon_variant,,ENST00000573354,;ACADVL,downstream_gene_variant,,ENST00000322910,;DVL2,upstream_gene_variant,,ENST00000571745,;DVL2,downstream_gene_variant,,ENST00000572285,;DVL2,upstream_gene_variant,,ENST00000576285,;DVL2,downstream_gene_variant,,ENST00000576439,;DVL2,upstream_gene_variant,,ENST00000576840,;DVL2,downstream_gene_variant,,ENST00000576949,;ACADVL,downstream_gene_variant,,ENST00000578033,;ACADVL,downstream_gene_variant,,ENST00000578319,;ACADVL,downstream_gene_variant,,ENST00000578711,;ACADVL,downstream_gene_variant,,ENST00000578809,;ACADVL,downstream_gene_variant,,ENST00000579391,;ACADVL,downstream_gene_variant,,ENST00000579425,;ACADVL,downstream_gene_variant,,ENST00000579894,;ACADVL,downstream_gene_variant,,ENST00000582450,;ACADVL,downstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000583850,;ACADVL,downstream_gene_variant,,ENST00000583858,;ACADVL,downstream_gene_variant,,ENST00000585203,; G ENSG00000004975 ENST00000005340 Transcript missense_variant 1143/3018 860/2211 287/736 N/T aAt/aCt 1 -1 DVL2 HGNC HGNC:3086 protein_coding YES CCDS11091.1 ENSP00000005340 O14641 UPI0000000DE9 NM_004422.2 deleterious(0) possibly_damaging(0.809) 8/15 PDB-ENSP_mappings:2rey.A,PDB-ENSP_mappings:3cbx.A,PDB-ENSP_mappings:3cbx.B,PDB-ENSP_mappings:3cby.A,PDB-ENSP_mappings:3cby.B,PDB-ENSP_mappings:3cbz.A,PDB-ENSP_mappings:3cc0.A,PDB-ENSP_mappings:3cc0.B,PDB-ENSP_mappings:3cc0.C,PROSITE_profiles:PS50106,cd00992,hmmpanther:PTHR10878:SF8,hmmpanther:PTHR10878,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156 MODERATE 1 SNV 1 PASS ATT . . 7229232 BORCS6 . GRCh38 chr17 8189383 8189383 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.758T>G p.Ile253Ser p.I253S ENST00000389017 1/1 108 75 16 44 42 0 BORCS6,missense_variant,p.Ile253Ser,ENST00000389017,NM_017622.2;MIR4521,downstream_gene_variant,,ENST00000635897,;AC129492.7,non_coding_transcript_exon_variant,,ENST00000622992,;,regulatory_region_variant,,ENSR00000090970,; C ENSG00000196544 ENST00000389017 Transcript missense_variant 1525/2575 758/1074 253/357 I/S aTt/aGt 1 -1 BORCS6 HGNC HGNC:25939 protein_coding YES CCDS11133.2 ENSP00000373669 Q96GS4 UPI000022A2C3 NM_017622.2 deleterious(0.05) probably_damaging(0.994) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13440,Pfam_domain:PF10157 MODERATE 1 SNV PASS AAT . . 8189383 SHISA6 . GRCh38 chr17 11241598 11241598 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.176A>C p.Asn59Thr p.N59T ENST00000441885 1/6 82 64 13 40 39 1 SHISA6,missense_variant,p.Asn59Thr,ENST00000441885,NM_207386.3;SHISA6,missense_variant,p.Asn59Thr,ENST00000432116,NM_001173462.1;SHISA6,missense_variant,p.Asn59Thr,ENST00000409168,NM_001173461.1;SHISA6,upstream_gene_variant,,ENST00000343478,; C ENSG00000188803 ENST00000441885 Transcript missense_variant 336/7575 176/1656 59/551 N/T aAc/aCc 1 1 SHISA6 HGNC HGNC:34491 protein_coding YES CCDS45615.1 ENSP00000390084 Q6ZSJ9 UPI000183CBD8 NM_207386.3 deleterious_low_confidence(0.01) benign(0.001) 1/6 hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0,mobidb-lite MODERATE 1 SNV 5 PASS AAC . . 11241598 NT5M . GRCh38 chr17 17303600 17303600 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.50T>G p.Val17Gly p.V17G ENST00000389022 1/5 100 85 15 45 43 1 NT5M,missense_variant,p.Val17Gly,ENST00000616989,;NT5M,missense_variant,p.Val17Gly,ENST00000389022,NM_020201.3;NT5M,missense_variant,p.Val17Gly,ENST00000470418,;NT5M,missense_variant,p.Val17Gly,ENST00000478373,;NT5M,upstream_gene_variant,,ENST00000483704,;,regulatory_region_variant,,ENSR00000091883,; G ENSG00000205309 ENST00000389022 Transcript missense_variant 266/1617 50/687 17/228 V/G gTt/gGt 1 1 NT5M HGNC HGNC:15769 protein_coding YES CCDS32581.1 ENSP00000373674 Q9NPB1 UPI0000073CAE NM_020201.3 tolerated_low_confidence(0.43) benign(0) 1/5 Low_complexity_(Seg):seg,hmmpanther:PTHR16504:SF6,hmmpanther:PTHR16504 MODERATE 1 SNV 1 PASS GTT . . 17303600 USP22 . GRCh38 chr17 21042834 21042834 + Translation_Start_Site SNP A A C rs1390944507 7316-487 BS_3C702XH4 A A c.2T>G p.Met1? p.M1? ENST00000261497 1/13 102 84 11 49 49 0 USP22,start_lost,p.Met1?,ENST00000261497,NM_015276.1;USP22,intron_variant,,ENST00000537526,;USP22,intron_variant,,ENST00000584538,;USP22,upstream_gene_variant,,ENST00000476111,;USP22,intron_variant,,ENST00000455117,;USP22,intron_variant,,ENST00000579645,;,regulatory_region_variant,,ENSR00000092418,; C ENSG00000124422 ENST00000261497 Transcript start_lost 206/5220 2/1578 1/525 M/R aTg/aGg rs1390944507 1 -1 USP22 HGNC HGNC:12621 protein_coding YES CCDS42285.1 ENSP00000261497 Q9UPT9 UPI00001C1FC6 NM_015276.1 deleterious_low_confidence(0) benign(0) 1/13 hmmpanther:PTHR43961:SF1,hmmpanther:PTHR43961 HIGH 1 SNV 1 PASS CAT . . 2.217e-05 5.406e-05 21042834 ARHGAP23 . GRCh38 chr17 38428547 38428547 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.62A>C p.Gln21Pro p.Q21P ENST00000622683 1/24 105 80 21 36 35 1 ARHGAP23,missense_variant,p.Gln21Pro,ENST00000622683,NM_001199417.1;ARHGAP23,missense_variant,p.Gln21Pro,ENST00000620417,;ARHGAP23,intron_variant,,ENST00000633445,;,regulatory_region_variant,,ENSR00000093753,; C ENSG00000275832 ENST00000622683 Transcript missense_variant,splice_region_variant 130/5964 62/4476 21/1491 Q/P cAg/cCg 1 1 ARHGAP23 HGNC HGNC:29293 protein_coding YES CCDS56027.1 ENSP00000481862 Q9P227 UPI0000F3BE51 NM_001199417.1 deleterious_low_confidence(0.05) benign(0.159) 1/24 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23175,hmmpanther:PTHR23175:SF5,Superfamily_domains:SSF50156 MODERATE 1 SNV 5 PASS CAG . . 38428547 SRCIN1 . GRCh38 chr17 38561911 38561911 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.1252T>G p.Phe418Val p.F418V ENST00000617146 7/19 103 83 12 37 37 0 SRCIN1,missense_variant,p.Phe418Val,ENST00000617146,NM_025248.2;SRCIN1,missense_variant,p.Phe452Val,ENST00000621492,;SRCIN1,missense_variant,p.Phe206Val,ENST00000622190,;SRCIN1,downstream_gene_variant,,ENST00000612431,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000621763,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000622519,;SRCIN1,upstream_gene_variant,,ENST00000612208,; C ENSG00000277363 ENST00000617146 Transcript missense_variant 1477/7058 1252/3552 418/1183 F/V Ttc/Gtc 1 -1 SRCIN1 HGNC HGNC:29506 protein_coding YES CCDS45660.1 ENSP00000484715 Q9C0H9 UPI0000E27F82 NM_025248.2 tolerated(0.17) benign(0.033) 7/19 hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF5 MODERATE 1 SNV 1 PASS AAC . . 38561911 NEUROD2 . GRCh38 chr17 39605884 39605884 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.716A>C p.Tyr239Ser p.Y239S ENST00000302584 2/2 87 73 8 23 23 0 NEUROD2,missense_variant,p.Tyr239Ser,ENST00000302584,NM_006160.3;NEUROD2,non_coding_transcript_exon_variant,,ENST00000580874,;,regulatory_region_variant,,ENSR00000093949,; G ENSG00000171532 ENST00000302584 Transcript missense_variant 937/2041 716/1149 239/382 Y/S tAc/tCc 1 -1 NEUROD2 HGNC HGNC:7763 protein_coding YES CCDS11338.1 ENSP00000306754 Q15784 UPI000012FE76 NM_006160.3 deleterious(0) probably_damaging(0.992) 2/2 Pfam_domain:PF12533,PIRSF_domain:PIRSF015618,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF83 MODERATE 1 SNV 1 PASS GTA . . 39605884 NT5C3B . GRCh38 chr17 41835857 41835857 + Splice_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.111+2T>G p.X37_splice ENST00000435506 83 73 8 35 35 0 NT5C3B,splice_donor_variant,,ENST00000415460,;NT5C3B,splice_donor_variant,,ENST00000435506,NM_052935.4;KLHL10,splice_region_variant,,ENST00000448203,;NT5C3B,intron_variant,,ENST00000521789,;KLHL10,upstream_gene_variant,,ENST00000293303,NM_152467.3;KLHL10,upstream_gene_variant,,ENST00000438813,;NT5C3B,upstream_gene_variant,,ENST00000486304,;KLHL10,upstream_gene_variant,,ENST00000485613,;NT5C3B,splice_donor_variant,,ENST00000393910,;NT5C3B,splice_donor_variant,,ENST00000445655,;NT5C3B,splice_donor_variant,,ENST00000469698,;NT5C3B,splice_donor_variant,,ENST00000475053,;NT5C3B,splice_donor_variant,,ENST00000476921,;NT5C3B,splice_donor_variant,,ENST00000523903,;NT5C3B,non_coding_transcript_exon_variant,,ENST00000470690,;NT5C3B,non_coding_transcript_exon_variant,,ENST00000460893,;NT5C3B,non_coding_transcript_exon_variant,,ENST00000495317,;NT5C3B,upstream_gene_variant,,ENST00000481693,;NT5C3B,upstream_gene_variant,,ENST00000517701,;NT5C3B,upstream_gene_variant,,ENST00000520442,;,regulatory_region_variant,,ENSR00000094297,; C ENSG00000141698 ENST00000435506 Transcript splice_donor_variant 1 -1 NT5C3B HGNC HGNC:28300 protein_coding YES CCDS11410.2 ENSP00000389948 Q969T7 UPI0001D04369 NM_052935.4 2/8 HIGH SNV 5 PASS TAC . . 41835857 ADAM11 . GRCh38 chr17 44759807 44759807 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.147A>C p.Glu49Asp p.E49D ENST00000200557 2/27 99 84 9 39 39 0 ADAM11,missense_variant,p.Glu49Asp,ENST00000200557,NM_002390.5;ADAM11,5_prime_UTR_variant,,ENST00000535346,NM_001318933.1;ADAM11,missense_variant,p.Glu49Asp,ENST00000355638,; C ENSG00000073670 ENST00000200557 Transcript missense_variant 316/4571 147/2310 49/769 E/D gaA/gaC 1 1 ADAM11 HGNC HGNC:189 protein_coding YES CCDS11486.1 ENSP00000200557 O75078 UPI000013C629 NM_002390.5 tolerated(0.16) benign(0.158) 2/27 hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF114,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 44759807 GRIN2C . GRCh38 chr17 74852086 74852086 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.925A>C p.Thr309Pro p.T309P ENST00000293190 3/13 130 114 13 41 40 1 GRIN2C,missense_variant,p.Thr309Pro,ENST00000293190,NM_000835.4;GRIN2C,missense_variant,p.Thr309Pro,ENST00000347612,NM_001278553.1;GRIN2C,non_coding_transcript_exon_variant,,ENST00000578159,;GRIN2C,non_coding_transcript_exon_variant,,ENST00000584176,;GRIN2C,downstream_gene_variant,,ENST00000584496,;,regulatory_region_variant,,ENSR00000098271,; G ENSG00000161509 ENST00000293190 Transcript missense_variant 1072/4261 925/3702 309/1233 T/P Acc/Ccc 1 -1 GRIN2C HGNC HGNC:4587 protein_coding YES CCDS32724.1 ENSP00000293190 Q14957 UPI00001AEBA4 NM_000835.4 tolerated(0.23) benign(0) 3/13 Gene3D:3.40.50.2300,hmmpanther:PTHR43958,hmmpanther:PTHR43958:SF1,Superfamily_domains:SSF53822,cd06378 MODERATE 1 SNV 1 PASS GTT . . 74852086 FDXR . GRCh38 chr17 74863925 74863925 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1274A>C p.Asn425Thr p.N425T ENST00000442102 10/12 101 83 14 44 43 0 FDXR,missense_variant,p.Asn425Thr,ENST00000442102,NM_001258012.3;FDXR,missense_variant,p.Asn382Thr,ENST00000293195,NM_024417.4;FDXR,missense_variant,p.Asn330Thr,ENST00000544854,NM_001258016.3;FDXR,missense_variant,p.Asn388Thr,ENST00000581530,NM_004110.5;FDXR,missense_variant,p.Asn413Thr,ENST00000413947,NM_001258013.3;FDXR,missense_variant,p.Asn374Thr,ENST00000582944,NM_001258014.3;FDXR,missense_variant,p.Asn354Thr,ENST00000583917,;FDXR,missense_variant,p.Asn342Thr,ENST00000420580,NM_001258015.2;GRIN2C,upstream_gene_variant,,ENST00000293190,NM_000835.4;GRIN2C,upstream_gene_variant,,ENST00000347612,NM_001278553.1;FDXR,downstream_gene_variant,,ENST00000579893,;FDXR,downstream_gene_variant,,ENST00000581219,;GRIN2C,upstream_gene_variant,,ENST00000578159,;FDXR,downstream_gene_variant,,ENST00000581969,;FDXR,3_prime_UTR_variant,,ENST00000579482,;FDXR,3_prime_UTR_variant,,ENST00000577509,;FDXR,non_coding_transcript_exon_variant,,ENST00000578473,;FDXR,intron_variant,,ENST00000583881,;FDXR,downstream_gene_variant,,ENST00000577932,;FDXR,downstream_gene_variant,,ENST00000579543,;FDXR,downstream_gene_variant,,ENST00000580492,;FDXR,downstream_gene_variant,,ENST00000582710,;GRIN2C,upstream_gene_variant,,ENST00000584176,;GRIN2C,upstream_gene_variant,,ENST00000584496,; G ENSG00000161513 ENST00000442102 Transcript missense_variant 1361/1967 1274/1605 425/534 N/T aAt/aCt 1 -1 FDXR HGNC HGNC:3642 protein_coding YES CCDS58595.1 ENSP00000416515 A0A0A0MT64 UPI0004620E76 NM_001258012.3 deleterious(0.01) possibly_damaging(0.868) 10/12 PIRSF_domain:PIRSF000362,hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF91,Superfamily_domains:SSF51971 MODERATE SNV 2 1 PASS ATT . . 74863925 CDR2L . GRCh38 chr17 74988045 74988045 + Translation_Start_Site SNP T T A novel 7316-487 BS_3C702XH4 T T c.2T>A p.Met1? p.M1? ENST00000337231 1/5 99 85 6 46 46 0 CDR2L,start_lost,p.Met1?,ENST00000337231,NM_014603.2;,regulatory_region_variant,,ENSR00000098296,; A ENSG00000109089 ENST00000337231 Transcript start_lost 414/3536 2/1398 1/465 M/K aTg/aAg 1 1 CDR2L HGNC HGNC:29999 protein_coding YES CCDS11710.2 ENSP00000336587 Q86X02 A0A024R8R6 UPI00005AE46D NM_014603.2 deleterious_low_confidence(0) benign(0.043) 1/5 hmmpanther:PTHR19232,hmmpanther:PTHR19232:SF10 HIGH 1 SNV 1 PASS ATG . . 74988045 MYO15B . GRCh38 chr17 75588333 75588333 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.276A>C p.Gln92His p.Q92H ENST00000610510 1/63 151 124 16 50 49 0 MYO15B,missense_variant,p.Gln92His,ENST00000610510,NM_001309242.1;MYO15B,missense_variant,p.Gln92His,ENST00000645453,;MYO15B,upstream_gene_variant,,ENST00000578564,;MYO15B,upstream_gene_variant,,ENST00000582561,;MYO15B,missense_variant,p.Gln92His,ENST00000621743,;MYO15B,missense_variant,p.Gln92His,ENST00000619501,;MYO15B,missense_variant,p.Gln92His,ENST00000584516,;MYO15B,upstream_gene_variant,,ENST00000581612,;MYO15B,upstream_gene_variant,,ENST00000581866,;,regulatory_region_variant,,ENSR00000098410,; C ENSG00000266714 ENST00000610510 Transcript missense_variant 276/9195 276/9195 92/3064 Q/H caA/caC 1 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000488624 A0A0J9YY01 UPI00064546F0 NM_001309242.1 tolerated_low_confidence(0.08) unknown(0) 1/63 mobidb-lite MODERATE 1 SNV 5 PASS AAA . . 75588333 MYO15B . GRCh38 chr17 75589308 75589308 + Missense_Mutation SNP T T G rs534573357 7316-487 BS_3C702XH4 T T c.1251T>G p.His417Gln p.H417Q ENST00000610510 1/63 81 55 12 30 26 0 MYO15B,missense_variant,p.His417Gln,ENST00000610510,NM_001309242.1;MYO15B,missense_variant,p.His417Gln,ENST00000645453,;MYO15B,upstream_gene_variant,,ENST00000578564,;MYO15B,upstream_gene_variant,,ENST00000582561,;MYO15B,missense_variant,p.His417Gln,ENST00000621743,;MYO15B,missense_variant,p.His417Gln,ENST00000619501,;MYO15B,missense_variant,p.His417Gln,ENST00000584516,;MYO15B,upstream_gene_variant,,ENST00000581612,;MYO15B,upstream_gene_variant,,ENST00000581866,;,regulatory_region_variant,,ENSR00000098410,; G ENSG00000266714 ENST00000610510 Transcript missense_variant 1251/9195 1251/9195 417/3064 H/Q caT/caG rs534573357 1 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000488624 A0A0J9YY01 UPI00064546F0 NM_001309242.1 tolerated_low_confidence(0.43) unknown(0) 1/63 mobidb-lite,Low_complexity_(Seg):seg 0.0004 0.0008 0.001 MODERATE 1 SNV 5 PASS ATG . . 75589308 AATK . GRCh38 chr17 81120475 81120475 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.3461T>G p.Leu1154Trp p.L1154W ENST00000326724 11/14 77 62 11 37 37 0 AATK,missense_variant,p.Leu1154Trp,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Leu1051Trp,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;MIR657,downstream_gene_variant,,ENST00000385003,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,intron_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,; C ENSG00000181409 ENST00000326724 Transcript missense_variant 3486/5257 3461/4125 1154/1374 L/W tTg/tGg 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 tolerated(0.19) benign(0.318) 11/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS CAA . . 81120475 CCDC137 . GRCh38 chr17 81672583 81672583 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.749T>G p.Ile250Ser p.I250S ENST00000329214 6/6 111 96 12 44 43 1 CCDC137,missense_variant,p.Ile250Ser,ENST00000329214,NM_199287.2;CCDC137,missense_variant,p.Ile259Ser,ENST00000574107,;CCDC137,missense_variant,p.Ile250Ser,ENST00000575223,;CCDC137,3_prime_UTR_variant,,ENST00000571916,;CCDC137,downstream_gene_variant,,ENST00000572531,;CCDC137,downstream_gene_variant,,ENST00000574200,; G ENSG00000185298 ENST00000329214 Transcript missense_variant 1152/2468 749/870 250/289 I/S aTt/aGt 1 1 CCDC137 HGNC HGNC:33451 protein_coding YES CCDS42400.1 ENSP00000329360 Q6PK04 UPI00001983C7 NM_199287.2 deleterious(0) possibly_damaging(0.885) 6/6 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21838 MODERATE 1 SNV 1 PASS ATT . . 81672583 PYCR1 . GRCh38 chr17 81937213 81937213 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.1A>C p.Met1? p.M1? ENST00000402252 1/8 131 107 19 38 38 0 PYCR1,start_lost,p.Met1?,ENST00000402252,NM_001282281.1;PYCR1,5_prime_UTR_variant,,ENST00000337943,NM_153824.2;PYCR1,5_prime_UTR_variant,,ENST00000585244,;PYCR1,5_prime_UTR_variant,,ENST00000583564,;PYCR1,intron_variant,,ENST00000403172,NM_001282279.1;PYCR1,intron_variant,,ENST00000405481,;PYCR1,intron_variant,,ENST00000577624,;PYCR1,intron_variant,,ENST00000579366,;PYCR1,intron_variant,,ENST00000579698,;PYCR1,intron_variant,,ENST00000581271,;PYCR1,intron_variant,,ENST00000582198,;PYCR1,intron_variant,,ENST00000585215,;PYCR1,intron_variant,,ENST00000619204,NM_001282280.1;PYCR1,intron_variant,,ENST00000629768,NM_001330523.1;PYCR1,upstream_gene_variant,,ENST00000329875,NM_006907.3;MYADML2,downstream_gene_variant,,ENST00000409745,NM_001145113.2;PYCR1,upstream_gene_variant,,ENST00000577756,;PYCR1,upstream_gene_variant,,ENST00000584848,;AC145207.1,upstream_gene_variant,,ENST00000415556,;AC145207.4,downstream_gene_variant,,ENST00000583521,;,regulatory_region_variant,,ENSR00000284724,; G ENSG00000183010 ENST00000402252 Transcript start_lost 27/1346 1/1041 1/346 M/L Atg/Ctg 1 -1 PYCR1 HGNC HGNC:9721 protein_coding YES CCDS62366.1 ENSP00000384949 P32322 UPI00017A78A7 NM_001282281.1 benign(0) 1/8 mobidb-lite HIGH SNV 2 1 PASS ATT . . 81937213 RAC3 . GRCh38 chr17 82031798 82031798 + Splice_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.35+2T>G p.X12_splice ENST00000306897 62 48 11 33 31 0 RAC3,splice_donor_variant,,ENST00000306897,NM_001316307.1,NM_005052.2;LRRC45,downstream_gene_variant,,ENST00000306688,NM_144999.3;DCXR,downstream_gene_variant,,ENST00000306869,NM_001195218.1,NM_016286.3;DCXR,downstream_gene_variant,,ENST00000577532,;DCXR,downstream_gene_variant,,ENST00000577712,;DCXR,downstream_gene_variant,,ENST00000579004,;DCXR,downstream_gene_variant,,ENST00000579155,;RAC3,upstream_gene_variant,,ENST00000580965,;DCXR,downstream_gene_variant,,ENST00000581584,;DCXR,downstream_gene_variant,,ENST00000582900,;RAC3,upstream_gene_variant,,ENST00000584341,;DCXR,downstream_gene_variant,,ENST00000577996,;DCXR,downstream_gene_variant,,ENST00000584318,;AC137723.2,downstream_gene_variant,,ENST00000623540,;DCXR,downstream_gene_variant,,ENST00000577286,;DCXR,downstream_gene_variant,,ENST00000578273,;DCXR,downstream_gene_variant,,ENST00000578885,;DCXR,downstream_gene_variant,,ENST00000579334,;DCXR,downstream_gene_variant,,ENST00000579821,;DCXR,downstream_gene_variant,,ENST00000579842,;DCXR,downstream_gene_variant,,ENST00000580320,;DCXR,downstream_gene_variant,,ENST00000580750,;LRRC45,downstream_gene_variant,,ENST00000581227,;DCXR,downstream_gene_variant,,ENST00000582074,;LRRC45,downstream_gene_variant,,ENST00000582083,;DCXR,downstream_gene_variant,,ENST00000582613,;LRRC45,downstream_gene_variant,,ENST00000583302,;RAC3,upstream_gene_variant,,ENST00000585014,;DCXR,downstream_gene_variant,,ENST00000585085,;DCXR,downstream_gene_variant,,ENST00000585164,;,regulatory_region_variant,,ENSR00000099522,; G ENSG00000169750 ENST00000306897 Transcript splice_donor_variant 1 1 RAC3 HGNC HGNC:9803 protein_coding YES CCDS11798.1 ENSP00000304283 P60763 UPI00000041DA NM_001316307.1,NM_005052.2 1/5 HIGH 1 SNV 1 PASS GTG . . 82031798 CABLES1 . GRCh38 chr18 23135931 23135931 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.169A>C p.Met57Leu p.M57L ENST00000256925 1/10 45 33 5 39 39 0 CABLES1,missense_variant,p.Met57Leu,ENST00000256925,NM_001100619.2;CABLES1,intron_variant,,ENST00000400473,NM_001256438.1;CABLES1,intron_variant,,ENST00000580153,;CABLES1,upstream_gene_variant,,ENST00000582882,;CABLES1,upstream_gene_variant,,ENST00000580644,;CABLES1,upstream_gene_variant,,ENST00000583220,;CABLES1,intron_variant,,ENST00000579963,;CABLES1,upstream_gene_variant,,ENST00000578052,;,regulatory_region_variant,,ENSR00000101375,; C ENSG00000134508 ENST00000256925 Transcript missense_variant 169/5002 169/1902 57/633 M/L Atg/Ctg 1 1 CABLES1 HGNC HGNC:25097 protein_coding YES CCDS42417.1 ENSP00000256925 Q8TDN4 A7K6Y5 UPI00004C2CAA NM_001100619.2 deleterious_low_confidence(0.05) benign(0) 1/10 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22896:SF1,hmmpanther:PTHR22896,PIRSF_domain:PIRSF025798 MODERATE 1 SNV 1 PASS CAT . . 23135931 TAF4B . GRCh38 chr18 26226954 26226954 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.21A>C p.Glu7Asp p.E7D ENST00000578121 1/15 94 85 6 35 35 0 TAF4B,missense_variant,p.Glu7Asp,ENST00000269142,NM_005640.2;TAF4B,missense_variant,p.Glu7Asp,ENST00000578121,NM_001293725.1;TAF4B,missense_variant,p.Glu7Asp,ENST00000418698,;,regulatory_region_variant,,ENSR00000101746,; C ENSG00000141384 ENST00000578121 Transcript missense_variant 469/3204 21/2604 7/867 E/D gaA/gaC 1 1 TAF4B HGNC HGNC:11538 protein_coding YES CCDS77170.1 ENSP00000462980 J3KTH2 UPI0000EE54F8 NM_001293725.1 tolerated_low_confidence(0.06) benign(0.007) 1/15 Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS AAC . . 26226954 SBNO2 . GRCh38 chr19 1108495 1108495 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.3826T>G p.Phe1276Val p.F1276V ENST00000361757 32/32 81 62 13 30 29 0 SBNO2,missense_variant,p.Phe1276Val,ENST00000361757,NM_014963.2;SBNO2,missense_variant,p.Phe1266Val,ENST00000587024,;SBNO2,missense_variant,p.Phe1219Val,ENST00000438103,NM_001100122.1;GPX4,downstream_gene_variant,,ENST00000354171,NM_002085.4;GPX4,downstream_gene_variant,,ENST00000585362,;GPX4,downstream_gene_variant,,ENST00000587648,;GPX4,downstream_gene_variant,,ENST00000588919,;GPX4,downstream_gene_variant,,ENST00000589115,;GPX4,downstream_gene_variant,,ENST00000593032,;GPX4,downstream_gene_variant,,ENST00000611653,;GPX4,downstream_gene_variant,,ENST00000614791,;GPX4,downstream_gene_variant,,ENST00000616066,NM_001039847.2;GPX4,downstream_gene_variant,,ENST00000622390,NM_001039848.2;GPX4,downstream_gene_variant,,ENST00000585480,;SBNO2,downstream_gene_variant,,ENST00000586109,;SBNO2,downstream_gene_variant,,ENST00000587673,;GPX4,downstream_gene_variant,,ENST00000587932,;GPX4,downstream_gene_variant,,ENST00000592940,;,regulatory_region_variant,,ENSR00000105621,; C ENSG00000064932 ENST00000361757 Transcript missense_variant 4064/4923 3826/4101 1276/1366 F/V Ttc/Gtc 1 -1 SBNO2 HGNC HGNC:29158 protein_coding YES CCDS45894.1 ENSP00000354733 Q9Y2G9 UPI0000140680 NM_014963.2 tolerated_low_confidence(0.07) benign(0.063) 32/32 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 1108495 ONECUT3 . GRCh38 chr19 1775437 1775437 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.1477A>C p.Lys493Gln p.K493Q ENST00000382349 2/2 94 70 19 54 54 0 ONECUT3,missense_variant,p.Lys493Gln,ENST00000382349,NM_001080488.1;,regulatory_region_variant,,ENSR00000286999,; C ENSG00000205922 ENST00000382349 Transcript missense_variant 2767/8318 1477/1485 493/494 K/Q Aag/Cag 1 1 ONECUT3 HGNC HGNC:13399 protein_coding YES CCDS45900.1 ENSP00000371786 O60422 UPI000059D61D NM_001080488.1 deleterious_low_confidence(0) benign(0.425) 2/2 mobidb-lite,hmmpanther:PTHR14057,hmmpanther:PTHR14057:SF34 MODERATE 1 SNV 5 PASS CAA . . 1775437 MFSD12 . GRCh38 chr19 3547273 3547273 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1022A>C p.Asn341Thr p.N341T ENST00000355415 6/10 87 72 13 41 41 0 MFSD12,missense_variant,p.Asn341Thr,ENST00000355415,NM_174983.4;MFSD12,missense_variant,p.Asn332Thr,ENST00000389395,NM_001287529.1;MFSD12,missense_variant,p.Asn31Thr,ENST00000615073,;MFSD12,missense_variant,p.Asn192Thr,ENST00000589995,;MFSD12,missense_variant,p.Asn20Thr,ENST00000589063,;C19orf71,downstream_gene_variant,,ENST00000329493,NM_001135580.1;MFSD12,upstream_gene_variant,,ENST00000398558,;MFSD12,downstream_gene_variant,,ENST00000592652,;AC005786.3,intron_variant,,ENST00000589360,;MFSD12,downstream_gene_variant,,ENST00000591878,;MFSD12,missense_variant,p.Asn332Thr,ENST00000588918,;MFSD12,downstream_gene_variant,,ENST00000585814,;MFSD12,downstream_gene_variant,,ENST00000588626,;MFSD12,upstream_gene_variant,,ENST00000589157,;,regulatory_region_variant,,ENSR00000106069,; G ENSG00000161091 ENST00000355415 Transcript missense_variant,splice_region_variant 1192/2124 1022/1443 341/480 N/T aAc/aCc 1 -1 MFSD12 HGNC HGNC:28299 protein_coding YES CCDS42465.1 ENSP00000347583 Q6NUT3 UPI0000046FA8 NM_174983.4 tolerated(0.13) benign(0.166) 6/10 Gene3D:1.20.1250.20,Pfam_domain:PF13347,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF28,Superfamily_domains:SSF103473,cd06174 MODERATE 1 SNV 1 PASS GTT . . 3547273 CCDC159 . GRCh38 chr19 11354687 11354687 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.880T>G p.Phe294Val p.F294V ENST00000588790 12/13 74 64 7 28 28 0 CCDC159,missense_variant,p.Phe294Val,ENST00000588790,;CCDC159,missense_variant,p.Phe294Val,ENST00000458408,NM_001080503.2;CCDC159,missense_variant,p.Phe135Val,ENST00000591691,;PLPPR2,upstream_gene_variant,,ENST00000251473,NM_022737.2;PLPPR2,upstream_gene_variant,,ENST00000586380,;CCDC159,downstream_gene_variant,,ENST00000586451,;CCDC159,downstream_gene_variant,,ENST00000587531,;CCDC159,downstream_gene_variant,,ENST00000588592,;CCDC159,downstream_gene_variant,,ENST00000591260,;PLPPR2,upstream_gene_variant,,ENST00000591329,;PLPPR2,upstream_gene_variant,,ENST00000591608,NM_001170635.1;PLPPR2,upstream_gene_variant,,ENST00000586431,;CCDC159,downstream_gene_variant,,ENST00000586479,;CCDC159,non_coding_transcript_exon_variant,,ENST00000589022,;CCDC159,non_coding_transcript_exon_variant,,ENST00000587868,;PLPPR2,upstream_gene_variant,,ENST00000588196,;CCDC159,downstream_gene_variant,,ENST00000588464,;CCDC159,downstream_gene_variant,,ENST00000588821,;CCDC159,downstream_gene_variant,,ENST00000589016,;CCDC159,downstream_gene_variant,,ENST00000589477,;CCDC159,downstream_gene_variant,,ENST00000590054,;CCDC159,downstream_gene_variant,,ENST00000590636,;CCDC159,downstream_gene_variant,,ENST00000590919,;CCDC159,downstream_gene_variant,,ENST00000592723,; G ENSG00000183401 ENST00000588790 Transcript missense_variant 1327/1408 880/894 294/297 F/V Ttc/Gtc 1 1 CCDC159 HGNC HGNC:26996 protein_coding YES CCDS45976.1 ENSP00000468232 P0C7I6 UPI00001611D5 deleterious_low_confidence(0.01) benign(0.178) 12/13 mobidb-lite,hmmpanther:PTHR34533:SF1,hmmpanther:PTHR34533 MODERATE SNV 5 PASS CTT . . 11354687 SAMD1 . GRCh38 chr19 14090369 14090369 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.52A>C p.Thr18Pro p.T18P ENST00000533683 1/5 33 23 9 17 17 0 SAMD1,missense_variant,p.Thr18Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 340/2164 52/1299 18/432 T/P Acg/Ccg 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.063) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090369 SAMD1 . GRCh38 chr19 14090372 14090372 + Missense_Mutation SNP T T G rs987964190 7316-487 BS_3C702XH4 T T c.49A>C p.Thr17Pro p.T17P ENST00000533683 1/5 33 22 9 17 17 0 SAMD1,missense_variant,p.Thr17Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 337/2164 49/1299 17/432 T/P Acc/Ccc rs987964190 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.336) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090372 ZNF257 . GRCh38 chr19 22088783 22088783 + Missense_Mutation SNP C C A rs555293490 7316-487 BS_3C702XH4 C C c.1033C>A p.Gln345Lys p.Q345K ENST00000594947 4/4 79 64 11 39 38 1 ZNF257,missense_variant,p.Gln345Lys,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; A ENSG00000197134 ENST00000594947 Transcript missense_variant 1177/3874 1033/1692 345/563 Q/K Caa/Aaa rs555293490,COSM6291265,COSM6084828,COSM6084827 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1,1 MODERATE 1 SNV 4 0,1,1,1 PASS CCA . . 22088783 LRP3 . GRCh38 chr19 33194787 33194787 + Translation_Start_Site SNP T T G novel 7316-487 BS_3C702XH4 T T c.2T>G p.Met1? p.M1? ENST00000253193 1/7 68 54 12 34 34 0 LRP3,start_lost,p.Met1?,ENST00000253193,NM_002333.3;LRP3,intron_variant,,ENST00000592484,;LRP3,upstream_gene_variant,,ENST00000590275,;,regulatory_region_variant,,ENSR00000108781,; G ENSG00000130881 ENST00000253193 Transcript start_lost 204/3807 2/2313 1/770 M/R aTg/aGg 1 1 LRP3 HGNC HGNC:6695 protein_coding YES CCDS12430.1 ENSP00000253193 O75074 UPI0000047A9C NM_002333.3 deleterious_low_confidence(0) benign(0.093) 1/7 HIGH 1 SNV 1 PASS ATG . . 33194787 MAP3K10 . GRCh38 chr19 40192032 40192032 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.1A>C p.Met1? p.M1? ENST00000253055 1/10 85 63 16 38 37 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; C ENSG00000130758 ENST00000253055 Transcript start_lost 289/3436 1/2865 1/954 M/L Atg/Ctg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.456) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS CAT . . 40192032 PRX . GRCh38 chr19 40396258 40396258 + Missense_Mutation SNP T T A 7316-487 BS_3C702XH4 T T c.2094A>T p.Glu698Asp p.E698D ENST00000324001 7/7 75 56 6 38 35 0 PRX,missense_variant,p.Glu698Asp,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2; A ENSG00000105227 ENST00000324001 Transcript missense_variant 2365/4855 2094/4386 698/1461 E/D gaA/gaT COSM5956772 1 -1 PRX HGNC HGNC:13797 protein_coding YES CCDS33028.1 ENSP00000326018 Q9BXM0 UPI000044CC1A NM_181882.2 tolerated(0.13) benign(0.162) 7/7 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF42 1 MODERATE 1 SNV 1 1 1 PASS TTT . . 40396258 NUMBL . GRCh38 chr19 40690482 40690482 + Translation_Start_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.2T>G p.Met1? p.M1? ENST00000252891 1/10 86 68 10 51 49 0 NUMBL,start_lost,p.Met1?,ENST00000252891,NM_004756.4;NUMBL,5_prime_UTR_variant,,ENST00000598779,NM_001289979.1;NUMBL,intron_variant,,ENST00000595741,;COQ8B,downstream_gene_variant,,ENST00000243583,NM_001142555.2;COQ8B,downstream_gene_variant,,ENST00000324464,NM_024876.3;NUMBL,upstream_gene_variant,,ENST00000540131,NM_001289980.1;NUMBL,upstream_gene_variant,,ENST00000598773,;NUMBL,upstream_gene_variant,,ENST00000600636,;NUMBL,non_coding_transcript_exon_variant,,ENST00000599594,;COQ8B,downstream_gene_variant,,ENST00000593724,;NUMBL,upstream_gene_variant,,ENST00000598759,;,regulatory_region_variant,,ENSR00000109577,; C ENSG00000105245 ENST00000252891 Transcript start_lost 170/3561 2/1830 1/609 M/R aTg/aGg 1 -1 NUMBL HGNC HGNC:8061 protein_coding YES CCDS12561.1 ENSP00000252891 Q9Y6R0 UPI000003032B NM_004756.4 deleterious_low_confidence(0) benign(0.188) 1/10 mobidb-lite,PIRSF_domain:PIRSF017607 HIGH 1 SNV 1 PASS CAT . . 40690482 CIC . GRCh38 chr19 42274127 42274127 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.2344T>G p.Leu782Val p.L782V ENST00000572681 2/21 106 95 9 49 49 0 CIC,missense_variant,p.Leu782Val,ENST00000572681,NM_001304815.1;CIC,downstream_gene_variant,,ENST00000571942,; G ENSG00000079432 ENST00000572681 Transcript missense_variant 2412/8218 2344/7545 782/2514 L/V Ttg/Gtg 1 1 CIC HGNC HGNC:14214 protein_coding ENSP00000459719 I3L2J0 UPI00025A2C1A NM_001304815.1 deleterious_low_confidence(0.02) possibly_damaging(0.899) 2/21 hmmpanther:PTHR13059,hmmpanther:PTHR13059:SF13,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ATT . . 42274127 TOMM40 . GRCh38 chr19 44891521 44891521 + Missense_Mutation SNP A A T novel 7316-487 BS_3C702XH4 A A c.106A>T p.Thr36Ser p.T36S ENST00000426677 1/9 107 93 7 51 51 0 TOMM40,missense_variant,p.Thr36Ser,ENST00000592434,;TOMM40,missense_variant,p.Thr36Ser,ENST00000426677,NM_001128917.1;TOMM40,missense_variant,p.Thr36Ser,ENST00000405636,NM_001128916.1;TOMM40,missense_variant,p.Thr36Ser,ENST00000252487,NM_006114.2;TOMM40,missense_variant,p.Thr36Ser,ENST00000589649,;TOMM40,missense_variant,p.Thr36Ser,ENST00000589253,;NECTIN2,downstream_gene_variant,,ENST00000252483,NM_001042724.1;NECTIN2,downstream_gene_variant,,ENST00000592018,;AC011481.2,upstream_gene_variant,,ENST00000585408,;TOMM40,upstream_gene_variant,,ENST00000592041,;,regulatory_region_variant,,ENSR00000110115,; T ENSG00000130204 ENST00000426677 Transcript missense_variant 286/1725 106/1086 36/361 T/S Acg/Tcg 1 1 TOMM40 HGNC HGNC:18001 protein_coding YES CCDS12646.1 ENSP00000410339 O96008 UPI0000130CBB NM_001128917.1 tolerated_low_confidence(0.31) benign(0.074) 1/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10802,hmmpanther:PTHR10802:SF1 MODERATE 1 SNV 1 1 PASS CAC . . 44891521 RELB . GRCh38 chr19 45001683 45001683 + Nonsense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.104T>G p.Leu35Ter p.L35* ENST00000221452 1/12 69 45 12 46 45 1 RELB,stop_gained,p.Leu35Ter,ENST00000221452,NM_006509.3;RELB,stop_gained,p.Leu35Ter,ENST00000625761,;RELB,stop_gained,p.Leu35Ter,ENST00000505236,;RELB,stop_gained,p.Leu35Ter,ENST00000509480,;,regulatory_region_variant,,ENSR00000110128,; G ENSG00000104856 ENST00000221452 Transcript stop_gained,splice_region_variant 254/2294 104/1740 35/579 L/* tTa/tGa 1 1 RELB HGNC HGNC:9956 protein_coding YES CCDS46110.1 ENSP00000221452 Q01201 UPI00000012B7 NM_006509.3 1/12 Pfam_domain:PF16180,mobidb-lite HIGH 1 SNV 1 1 PASS TTA . . 45001683 PPP1R37 . GRCh38 chr19 45145253 45145253 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.1289A>C p.Lys430Thr p.K430T ENST00000221462 10/13 100 78 15 30 30 0 PPP1R37,missense_variant,p.Lys430Thr,ENST00000221462,NM_019121.1;MARK4,intron_variant,,ENST00000587566,;NKPD1,downstream_gene_variant,,ENST00000317951,NM_198478.3;PPP1R37,downstream_gene_variant,,ENST00000544069,;PPP1R37,downstream_gene_variant,,ENST00000544897,;PPP1R37,downstream_gene_variant,,ENST00000545910,;PPP1R37,non_coding_transcript_exon_variant,,ENST00000422370,;PPP1R37,non_coding_transcript_exon_variant,,ENST00000540059,; C ENSG00000104866 ENST00000221462 Transcript missense_variant 1653/3163 1289/2076 430/691 K/T aAa/aCa 1 1 PPP1R37 HGNC HGNC:27607 protein_coding YES CCDS56096.1 ENSP00000221462 O75864 UPI000041AA74 NM_019121.1 deleterious(0.02) possibly_damaging(0.64) 10/13 Gene3D:3.40.50.2000,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF42 MODERATE SNV 5 PASS AAA . . 45145253 PPP1R13L . GRCh38 chr19 45396816 45396816 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.441T>G p.Asp147Glu p.D147E ENST00000418234 4/13 106 84 17 43 43 0 PPP1R13L,missense_variant,p.Asp147Glu,ENST00000418234,NM_001142502.1;PPP1R13L,missense_variant,p.Asp147Glu,ENST00000360957,NM_006663.3;PPP1R13L,downstream_gene_variant,,ENST00000592134,;PPP1R13L,downstream_gene_variant,,ENST00000593226,;PPP1R13L,non_coding_transcript_exon_variant,,ENST00000585905,;PPP1R13L,upstream_gene_variant,,ENST00000587270,; C ENSG00000104881 ENST00000418234 Transcript missense_variant 520/3118 441/2487 147/828 D/E gaT/gaG 1 -1 PPP1R13L HGNC HGNC:18838 protein_coding YES CCDS33050.1 ENSP00000403902 Q8WUF5 A0A024R0Q5 UPI00001400F1 NM_001142502.1 tolerated_low_confidence(0.42) benign(0) 4/13 hmmpanther:PTHR24164,mobidb-lite MODERATE 1 SNV 1 PASS CAT . . 45396816 SHANK1 . GRCh38 chr19 50668253 50668253 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.3707T>G p.Leu1236Arg p.L1236R ENST00000293441 22/23 84 55 17 36 35 1 SHANK1,missense_variant,p.Leu1236Arg,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Leu1244Arg,ENST00000391814,;SHANK1,missense_variant,p.Leu1227Arg,ENST00000359082,;SHANK1,missense_variant,p.Leu623Arg,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,; C ENSG00000161681 ENST00000293441 Transcript missense_variant 3726/6643 3707/6486 1236/2161 L/R cTg/cGg 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 tolerated(0.1) benign(0.432) 22/23 hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3 MODERATE 1 SNV 1 1 PASS CAG . . 50668253 KLK3 . GRCh38 chr19 50856267 50856267 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.74T>G p.Ile25Ser p.I25S ENST00000326003 2/5 89 77 7 44 41 0 KLK3,missense_variant,p.Ile25Ser,ENST00000360617,NM_001030047.1;KLK3,missense_variant,p.Ile25Ser,ENST00000326003,NM_001648.2;KLK3,missense_variant,p.Ile25Ser,ENST00000617027,;KLK3,missense_variant,p.Ile25Ser,ENST00000593997,;KLK3,missense_variant,p.Ile25Ser,ENST00000595952,NM_001030048.1;KLK3,missense_variant,p.Ile20Ser,ENST00000598145,;KLK3,missense_variant,p.Ile25Ser,ENST00000597483,;KLK3,intron_variant,,ENST00000597286,;KLK3,intron_variant,,ENST00000601503,;KLK3,missense_variant,p.Ile25Ser,ENST00000422986,;KLK3,missense_variant,p.Ile25Ser,ENST00000595392,;KLK3,3_prime_UTR_variant,,ENST00000596185,;KLK3,non_coding_transcript_exon_variant,,ENST00000601349,;KLK3,non_coding_transcript_exon_variant,,ENST00000596333,;KLK3,non_coding_transcript_exon_variant,,ENST00000595151,;KLK3,upstream_gene_variant,,ENST00000601812,; G ENSG00000142515 ENST00000326003 Transcript missense_variant 115/1463 74/786 25/261 I/S aTt/aGt 1 1 KLK3 HGNC HGNC:6364 protein_coding YES CCDS12807.1 ENSP00000314151 P07288 Q546G3 UPI0000001C9E NM_001648.2 deleterious(0) probably_damaging(0.992) 2/5 cd00190,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR43890:SF13,hmmpanther:PTHR43890 MODERATE 1 SNV 1 PASS ATT . . 50856267 LILRA1 . GRCh38 chr19 54596404 54596404 + Missense_Mutation SNP T T G rs779834291 7316-487 BS_3C702XH4 T T c.1174T>G p.Ser392Ala p.S392A ENST00000251372 7/10 94 81 13 36 36 0 LILRA1,missense_variant,p.Ser392Ala,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; G ENSG00000104974 ENST00000251372 Transcript missense_variant 1356/1910 1174/1470 392/489 S/A Tcg/Gcg rs779834291,COSM713659 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(0.53) benign(0.001) 7/10 Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 0,1 MODERATE 1 SNV 1 0,1 PASS CTC . . 4.061e-06 3.249e-05 54596404 ZNF628 . GRCh38 chr19 55482558 55482558 + Missense_Mutation SNP A A C rs1175069061 7316-487 BS_3C702XH4 A A c.1365A>C p.Lys455Asn p.K455N ENST00000598519 3/3 108 87 15 39 38 0 ZNF628,missense_variant,p.Lys455Asn,ENST00000598519,NM_033113.2;ZNF628,missense_variant,p.Lys454Asn,ENST00000391718,;NAT14,upstream_gene_variant,,ENST00000205194,NM_020378.3;NAT14,upstream_gene_variant,,ENST00000587400,;NAT14,upstream_gene_variant,,ENST00000588985,;ZNF628,downstream_gene_variant,,ENST00000591164,;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000592719,; C ENSG00000197483 ENST00000598519 Transcript missense_variant 1918/3847 1365/3180 455/1059 K/N aaA/aaC rs1175069061 1 1 ZNF628 HGNC HGNC:28054 protein_coding YES CCDS33116.3 ENSP00000469591 Q5EBL2 UPI00026B9C6E NM_033113.2 deleterious(0.02) possibly_damaging(0.899) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,Gene3D:2.30.30.380,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAT . . 55482558 MRPS26 . GRCh38 chr20 3046486 3046486 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.326A>C p.Asn109Thr p.N109T ENST00000380325 2/4 116 103 9 45 45 0 MRPS26,missense_variant,p.Asn109Thr,ENST00000380325,NM_030811.3;GNRH2,downstream_gene_variant,,ENST00000245983,NM_001501.1,NM_001310220.1;GNRH2,downstream_gene_variant,,ENST00000359100,NM_178331.1;GNRH2,downstream_gene_variant,,ENST00000380346,NM_178332.1;GNRH2,downstream_gene_variant,,ENST00000380347,;,regulatory_region_variant,,ENSR00000133728,; C ENSG00000125901 ENST00000380325 Transcript missense_variant 450/1127 326/618 109/205 N/T aAc/aCc 1 1 MRPS26 HGNC HGNC:14045 protein_coding YES CCDS13043.1 ENSP00000369682 Q9BYN8 UPI00001352A1 NM_030811.3 deleterious(0) probably_damaging(0.989) 2/4 PDB-ENSP_mappings:3j9m.AU,Pfam_domain:PF14943,hmmpanther:PTHR21035 MODERATE 1 SNV 1 PASS AAC . . 3046486 AVP . GRCh38 chr20 3083103 3083103 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.196T>G p.Phe66Val p.F66V ENST00000380293 2/3 127 111 14 46 46 0 AVP,missense_variant,p.Phe66Val,ENST00000380293,NM_000490.4;,regulatory_region_variant,,ENSR00000133737,; C ENSG00000101200 ENST00000380293 Transcript missense_variant 246/619 196/495 66/164 F/V Ttc/Gtc 1 -1 AVP HGNC HGNC:894 protein_coding YES CCDS13045.1 ENSP00000369647 P01185 X5DQP6 UPI000012FF67 NM_000490.4 tolerated(0.06) benign(0.403) 2/3 hmmpanther:PTHR11681:SF9,hmmpanther:PTHR11681,Pfam_domain:PF00184,Gene3D:2.60.9.10,PIRSF_domain:PIRSF001815,SMART_domains:SM00003,Superfamily_domains:SSF49606,Prints_domain:PR00831,blastprodom:PD001676 MODERATE 1 SNV 1 1 PASS AAG . . 3083103 PCSK2 . GRCh38 chr20 17436871 17436871 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.873T>G p.Asp291Glu p.D291E ENST00000262545 8/12 101 88 9 48 48 0 PCSK2,missense_variant,p.Asp291Glu,ENST00000262545,NM_002594.4;PCSK2,missense_variant,p.Asp272Glu,ENST00000377899,NM_001201528.1;PCSK2,missense_variant,p.Asp256Glu,ENST00000536609,NM_001201529.2; G ENSG00000125851 ENST00000262545 Transcript missense_variant 1188/4740 873/1917 291/638 D/E gaT/gaG 1 1 PCSK2 HGNC HGNC:8744 protein_coding YES CCDS13125.1 ENSP00000262545 P16519 UPI0000000C6E NM_002594.4 tolerated(0.65) benign(0.133) 8/12 cd04059,hmmpanther:PTHR42884,hmmpanther:PTHR42884:SF13,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743 MODERATE 1 SNV 1 PASS ATG . . 17436871 INSM1 . GRCh38 chr20 20368574 20368574 + Missense_Mutation SNP A A T novel 7316-487 BS_3C702XH4 A A c.307A>T p.Thr103Ser p.T103S ENST00000310227 1/1 47 36 7 33 33 0 INSM1,missense_variant,p.Thr103Ser,ENST00000310227,NM_002196.2;AL161658.1,downstream_gene_variant,,ENST00000623641,;,regulatory_region_variant,,ENSR00000135415,; T ENSG00000173404 ENST00000310227 Transcript missense_variant 454/2829 307/1533 103/510 T/S Acg/Tcg 1 1 INSM1 HGNC HGNC:6090 protein_coding YES CCDS13143.1 ENSP00000312631 Q01101 UPI0000046C2F NM_002196.2 deleterious(0.01) benign(0.096) 1/1 PDB-ENSP_mappings:3zms.C,hmmpanther:PTHR15065,hmmpanther:PTHR15065:SF5,mobidb-lite MODERATE 1 SNV PASS CAC . . 20368574 PAX1 . GRCh38 chr20 21714596 21714596 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.1398A>C p.Glu466Asp p.E466D ENST00000398485 5/5 91 75 16 41 40 0 PAX1,missense_variant,p.Glu466Asp,ENST00000398485,NM_006192.4;PAX1,3_prime_UTR_variant,,ENST00000613128,NM_001257096.1;PAX1,3_prime_UTR_variant,,ENST00000444366,;,regulatory_region_variant,,ENSR00000135519,; C ENSG00000125813 ENST00000398485 Transcript missense_variant 1452/2838 1398/1605 466/534 E/D gaA/gaC 1 1 PAX1 HGNC HGNC:8615 protein_coding YES CCDS13146.2 ENSP00000381499 P15863 UPI000179A786 NM_006192.4 tolerated_low_confidence(0.23) benign(0) 5/5 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 1 PASS AAC . . 21714596 CCM2L . GRCh38 chr20 32019090 32019090 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.614T>G p.Met205Arg p.M205R ENST00000262659 5/9 97 74 17 43 42 1 CCM2L,missense_variant,p.Met205Arg,ENST00000262659,NM_080625.3;CCM2L,upstream_gene_variant,,ENST00000452892,;,regulatory_region_variant,,ENSR00000136079,; G ENSG00000101331 ENST00000262659 Transcript missense_variant 619/2523 614/1302 205/433 M/R aTg/aGg 1 1 CCM2L HGNC HGNC:16153 protein_coding YES CCDS13195.1 ENSP00000262659 Q9NUG4 UPI0000070921 NM_080625.3 tolerated_low_confidence(0.37) benign(0) 5/9 Gene3D:2.30.29.30,hmmpanther:PTHR21642,hmmpanther:PTHR21642:SF2,cd13166 MODERATE 1 SNV 1 PASS ATG . . 32019090 JPH2 . GRCh38 chr20 44115786 44115786 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.1889A>C p.Lys630Thr p.K630T ENST00000372980 4/6 90 71 9 33 33 0 JPH2,missense_variant,p.Lys630Thr,ENST00000372980,NM_020433.4; G ENSG00000149596 ENST00000372980 Transcript missense_variant 2762/4787 1889/2091 630/696 K/T aAa/aCa 1 -1 JPH2 HGNC HGNC:14202 protein_coding YES CCDS13325.1 ENSP00000362071 Q9BR39 UPI000012DAC2 NM_020433.4 tolerated(0.11) possibly_damaging(0.614) 4/6 PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF16,mobidb-lite MODERATE 1 SNV 5 1 PASS TTT . . 44115786 TP53RK . GRCh38 chr20 46689129 46689129 + Splice_Region SNP T T G novel 7316-487 BS_3C702XH4 T T c.283+3A>C ENST00000372114 102 83 13 47 47 0 TP53RK,missense_variant,p.Lys96Gln,ENST00000372102,;TP53RK,splice_region_variant,,ENST00000372114,NM_033550.3;SLC13A3,upstream_gene_variant,,ENST00000372121,;AL031055.1,upstream_gene_variant,,ENST00000606362,;,regulatory_region_variant,,ENSR00000137823,; G ENSG00000172315 ENST00000372114 Transcript splice_region_variant,intron_variant 1 -1 TP53RK HGNC HGNC:16197 protein_coding YES CCDS13401.1 ENSP00000361186 Q96S44 UPI0000035B7A NM_033550.3 1/1 LOW 1 SNV 1 1 PASS TTA . . 46689129 NEFH . GRCh38 chr22 29480507 29480507 + Missense_Mutation SNP A A C novel 7316-487 BS_3C702XH4 A A c.245A>C p.Asn82Thr p.N82T ENST00000310624 1/4 125 106 15 35 35 0 NEFH,missense_variant,p.Asn82Thr,ENST00000310624,NM_021076.3;AC000035.1,intron_variant,,ENST00000634116,;RFPL1S,upstream_gene_variant,,ENST00000419368,;RFPL1S,upstream_gene_variant,,ENST00000461286,;,regulatory_region_variant,,ENSR00000145067,; C ENSG00000100285 ENST00000310624 Transcript missense_variant 278/3783 245/3063 82/1020 N/T aAc/aCc 1 1 NEFH HGNC HGNC:7737 protein_coding YES CCDS13858.1 ENSP00000311997 P12036 UPI00001AEF71 NM_021076.3 deleterious(0.04) possibly_damaging(0.577) 1/4 mobidb-lite,hmmpanther:PTHR23214 MODERATE 1 SNV 1 1 PASS AAC . . 29480507 TRIOBP . GRCh38 chr22 37723794 37723794 + Missense_Mutation SNP A A G rs71317064 7316-487 BS_3C702XH4 A A c.1238A>G p.Lys413Arg p.K413R ENST00000406386 7/24 85 58 11 31 30 0 TRIOBP,missense_variant,p.Lys413Arg,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Lys413Arg,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; G ENSG00000100106 ENST00000406386 Transcript missense_variant 1509/10145 1238/7098 413/2365 K/R aAa/aGa rs71317064,COSM230417 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 tolerated_low_confidence(1) benign(0) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 1 PASS AAA . . 5.702e-05 5.809e-05 4.484e-05 8.061e-05 0.0001842 6.555e-05 37723794 BAIAP2L2 . GRCh38 chr22 38089094 38089094 + Splice_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.901+2T>G p.X301_splice ENST00000381669 95 81 10 31 31 0 BAIAP2L2,splice_donor_variant,,ENST00000332536,;BAIAP2L2,splice_donor_variant,,ENST00000381669,NM_025045.5;BAIAP2L2,upstream_gene_variant,,ENST00000428572,;AL022322.1,upstream_gene_variant,,ENST00000609162,;,regulatory_region_variant,,ENSR00000146116,; C ENSG00000128298 ENST00000381669 Transcript splice_donor_variant 1 -1 BAIAP2L2 HGNC HGNC:26203 protein_coding YES CCDS43018.1 ENSP00000371085 Q6UXY1 UPI00001AECDC NM_025045.5 9/13 HIGH 1 SNV 1 PASS CAC . . 38089094 CERK . GRCh38 chr22 46738005 46738005 + Splice_Site SNP A A C novel 7316-487 BS_3C702XH4 A A c.142+2T>G p.X48_splice ENST00000216264 109 89 15 51 50 0 CERK,splice_donor_variant,,ENST00000216264,NM_022766.5;CERK,splice_donor_variant,,ENST00000460254,;CERK,splice_donor_variant,,ENST00000443629,;,regulatory_region_variant,,ENSR00000147452,; C ENSG00000100422 ENST00000216264 Transcript splice_donor_variant 1 -1 CERK HGNC HGNC:19256 protein_coding YES CCDS14077.1 ENSP00000216264 Q8TCT0 A0A024R4U8 UPI000004BBBD NM_022766.5 1/12 HIGH 1 SNV 1 PASS CAC . . 46738005 TUBGCP6 . GRCh38 chr22 50220818 50220818 + Missense_Mutation SNP C C A 7316-487 BS_3C702XH4 C C c.3541G>T p.Ala1181Ser p.A1181S ENST00000248846 16/25 88 60 7 40 38 0 TUBGCP6,missense_variant,p.Ala1181Ser,ENST00000439308,;TUBGCP6,missense_variant,p.Ala1181Ser,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; A ENSG00000128159 ENST00000248846 Transcript missense_variant 3646/5612 3541/5460 1181/1819 A/S Gcc/Tcc COSM3065045 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 tolerated(1) benign(0.001) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 1 MODERATE 1 SNV 1 1 1 PASS GCG . . 50220818 GTPBP6 . GRCh38 chrX 318651 318651 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.137A>C p.Asn46Thr p.N46T ENST00000326153 1/10 87 67 16 39 39 0 GTPBP6,missense_variant,p.Asn46Thr,ENST00000326153,NM_012227.3;LINC00685,upstream_gene_variant,,ENST00000391707,;,regulatory_region_variant,,ENSR00000243689,; G ENSG00000178605 ENST00000326153 Transcript missense_variant 169/1907 137/1551 46/516 N/T aAt/aCt 1 -1 GTPBP6 HGNC HGNC:30189 protein_coding YES CCDS75943.1 ENSP00000316598 O43824 UPI00043B9035 NM_012227.3 tolerated(0.6) unknown(0) 1/10 mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 318651 PCSK1N . GRCh38 chrX 48831944 48831944 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.512A>C p.Tyr171Ser p.Y171S ENST00000218230 2/3 51 40 7 24 24 0 PCSK1N,missense_variant,p.Tyr171Ser,ENST00000218230,NM_013271.4;ERAS,downstream_gene_variant,,ENST00000338270,;ERAS,downstream_gene_variant,,ENST00000636362,NM_181532.3;PCSK1N,downstream_gene_variant,,ENST00000611033,;,regulatory_region_variant,,ENSR00000246518,; G ENSG00000102109 ENST00000218230 Transcript missense_variant 613/1050 512/783 171/260 Y/S tAc/tCc 1 -1 PCSK1N HGNC HGNC:17301 protein_coding YES CCDS14307.1 ENSP00000218230 Q9UHG2 UPI000003778D NM_013271.4 deleterious_low_confidence(0) probably_damaging(0.92) 2/3 mobidb-lite,hmmpanther:PTHR15531,Pfam_domain:PF07259 MODERATE 1 SNV 1 PASS GTA . . 48831944 MAGEE1 . GRCh38 chrX 76428913 76428913 + Missense_Mutation SNP T T C rs1285203573 7316-487 BS_3C702XH4 T T c.983T>C p.Leu328Pro p.L328P ENST00000361470 1/1 49 35 5 20 18 0 MAGEE1,missense_variant,p.Leu328Pro,ENST00000361470,NM_020932.2;,regulatory_region_variant,,ENSR00000247301,; C ENSG00000198934 ENST00000361470 Transcript missense_variant 1190/3630 983/2874 328/957 L/P cTg/cCg rs1285203573,COSM4656065,COSM4656064 1 1 MAGEE1 HGNC HGNC:24934 protein_coding YES CCDS14433.1 ENSP00000354912 Q9HCI5 UPI000006F138 NM_020932.2 tolerated_low_confidence(0.16) benign(0) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF9,mobidb-lite 0,1,1 MODERATE 1 SNV 0,1,1 PASS CTG . . 76428913 ARMCX4 . GRCh38 chrX 101494095 101494095 + Missense_Mutation SNP G G C rs781960872 7316-487 BS_3C702XH4 G G c.5506G>C p.Gly1836Arg p.G1836R ENST00000423738 2/2 46 21 7 25 20 0 ARMCX4,missense_variant,p.Gly1836Arg,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; C ENSG00000196440 ENST00000423738 Transcript missense_variant 5708/7424 5506/6873 1836/2290 G/R Ggg/Cgg rs781960872 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.43) benign(0.149) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TGG . . 0.004478 0.0009352 0.006269 0.007818 0.001543 0.01969 0.004478 0.00369 0.003535 101494095 ZFP92 . GRCh38 chrX 153421216 153421216 + Missense_Mutation SNP T T G novel 7316-487 BS_3C702XH4 T T c.839T>G p.Ile280Ser p.I280S ENST00000338647 4/4 59 47 9 16 16 0 ZFP92,missense_variant,p.Ile280Ser,ENST00000338647,NM_001136273.1; G ENSG00000189420 ENST00000338647 Transcript missense_variant 840/6105 839/1251 280/416 I/S aTc/aGc 1 1 ZFP92 HGNC HGNC:12865 protein_coding YES CCDS59177.1 ENSP00000462054 A6NM28 UPI000052B478 NM_001136273.1 deleterious(0.02) benign(0.082) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF634,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS ATC . . 153421216 CDY7P . GRCh38 chrY 17952062 17952062 + Splice_Region DEL A A - rs745711635 7316-487 BS_3C702XH4 A A n.183del ENST00000429883 2/2 45 23 9 13 10 0 CDY7P,splice_region_variant,,ENST00000429883,; - ENSG00000237558 ENST00000429883 Transcript splice_region_variant,non_coding_transcript_exon_variant 166/1604 rs745711635 1 1 CDY7P HGNC HGNC:23854 unprocessed_pseudogene YES 2/2 LOW 1 deletion 17 PASS CTAA . . 17952061 NCKAP1 . GRCh38 chr2 182942166 182942166 + Splice_Region DEL A A - rs140820523 7316-222 BS_XWBMBWC6 A A c.2620-3del ENST00000360982 59 50 5 52 50 0 NCKAP1,splice_region_variant,,ENST00000360982,NM_205842.2;NCKAP1,splice_region_variant,,ENST00000361354,NM_013436.4;NCKAP1,splice_region_variant,,ENST00000478449,;NCKAP1,upstream_gene_variant,,ENST00000471640,;,regulatory_region_variant,,ENSR00000127360,; - ENSG00000061676 ENST00000360982 Transcript splice_region_variant,intron_variant rs140820523,TMP_ESP_2_183806894_183806894,COSM5943705 1 -1 NCKAP1 HGNC HGNC:7666 protein_coding YES CCDS2288.1 ENSP00000354251 Q9Y2A7 UPI00001693F2 NM_205842.2 24/31 0.0597 0.0522 0.0908 0.1213 0.046 0.0579 0.1212 0,0,1 LOW 1 deletion 1 0,0,1 PASS CTAA . . 0.1244 0.06992 0.1146 0.2363 0.004506 0.0707 0.1575 0.1567 0.09081 182942165 TNRC18 . GRCh38 chr7 5374208 5374208 + Missense_Mutation SNP T T G rs1011600641 7316-222 BS_XWBMBWC6 T T c.3076A>C p.Thr1026Pro p.T1026P ENST00000430969 10/30 83 62 19 24 22 1 TNRC18,missense_variant,p.Thr1026Pro,ENST00000399537,;TNRC18,missense_variant,p.Thr1026Pro,ENST00000430969,NM_001080495.2;TNRC18,downstream_gene_variant,,ENST00000413081,; G ENSG00000182095 ENST00000430969 Transcript missense_variant 3425/10562 3076/8907 1026/2968 T/P Acc/Ccc rs1011600641,COSM6375038,COSM6375037,COSM6375036,COSM1229995,COSM1229994,COSM1229993 1 -1 TNRC18 HGNC HGNC:11962 protein_coding YES CCDS47534.1 ENSP00000395538 O15417 UPI00016632FD NM_001080495.2 tolerated(0.06) probably_damaging(0.96) 10/30 hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF21,mobidb-lite,Low_complexity_(Seg):seg 0,1,1,1,1,1,1 MODERATE 1 SNV 5 0,1,1,1,1,1,1 PASS GTG . . 0.001147 0.001025 0.003043 0.001587 0.0002923 0.001592 0.00222 5374208 HGF . GRCh38 chr7 81706359 81706359 + Missense_Mutation SNP T T C rs559990458 7316-222 BS_XWBMBWC6 T T c.1685A>G p.Lys562Arg p.K562R ENST00000222390 15/18 114 89 23 44 43 0 HGF,missense_variant,p.Lys562Arg,ENST00000222390,NM_000601.5;HGF,missense_variant,p.Lys562Arg,ENST00000644543,;HGF,missense_variant,p.Lys557Arg,ENST00000457544,NM_001010932.2; C ENSG00000019991 ENST00000222390 Transcript missense_variant 1912/5987 1685/2187 562/728 K/R aAa/aGa rs559990458 1 -1 HGF HGNC HGNC:4893 protein_coding YES CCDS5597.1 ENSP00000222390 P14210 UPI000000D92B NM_000601.5 tolerated(1) benign(0.003) 15/18 Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001152,PIRSF_domain:PIRSF500183,PROSITE_profiles:PS50240,hmmpanther:PTHR44106,hmmpanther:PTHR44106:SF3,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 MODERATE 1 SNV 1 1 PASS TTT . . 81706359 TRBV5-3 . GRCh38 chr7 142389370 142389370 + Splice_Region SNP C C T rs748337645 7316-222 BS_XWBMBWC6 C C c.50-5C>T ENST00000390362 116 97 16 36 36 0 TRBV5-3,splice_region_variant,,ENST00000390362,;TRBV7-3,downstream_gene_variant,,ENST00000390361,;TRBV9,upstream_gene_variant,,ENST00000390363,;TRBV8-2,downstream_gene_variant,,ENST00000475637,; T ENSG00000211715 ENST00000390362 Transcript splice_region_variant,intron_variant rs748337645 1 1 TRBV5-3 HGNC HGNC:12220 TR_V_gene YES ENSP00000374885 A0A0A0MS03 UPI000011DFCC 1/1 LOW 1 SNV PASS CCA . . 142389370 OSGIN2 . GRCh38 chr8 89909563 89909563 + Splice_Region SNP A A T rs773936861 7316-222 BS_XWBMBWC6 A A c.45-4A>T ENST00000451899 99 90 8 38 37 0 OSGIN2,splice_region_variant,,ENST00000297438,NM_004337.2;OSGIN2,splice_region_variant,,ENST00000451899,NM_001126111.2;OSGIN2,splice_region_variant,,ENST00000520659,; T ENSG00000164823 ENST00000451899 Transcript splice_region_variant,intron_variant rs773936861,COSM4769633 1 1 OSGIN2 HGNC HGNC:1355 protein_coding YES CCDS47888.1 ENSP00000396445 Q9Y236 UPI0000E5AF0B NM_001126111.2 1/5 0,1 LOW 1 SNV 1 0,1 PASS TAA . . 0.0006278 0.0005772 0.00139 0.0006601 0.001361 0.0008311 0.0003801 0.0007337 0.0004284 89909563 PRSS3 . GRCh38 chr9 33796705 33796705 + Missense_Mutation SNP C C G rs149026348 7316-222 BS_XWBMBWC6 C C c.274C>G p.Leu92Val p.L92V ENST00000361005 2/5 73 64 8 42 40 0 PRSS3,missense_variant,p.Leu49Val,ENST00000342836,NM_001197097.2;PRSS3,missense_variant,p.Leu92Val,ENST00000361005,NM_007343.3;PRSS3,missense_variant,p.Leu35Val,ENST00000379405,NM_002771.3;PRSS3,missense_variant,p.Leu28Val,ENST00000429677,NM_001197098.1;PRSS3,missense_variant,p.Leu47Val,ENST00000457896,;UBE2R2-AS1,intron_variant,,ENST00000454429,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;PRSS3,intron_variant,,ENST00000477653,;PRSS3,upstream_gene_variant,,ENST00000495682,;,regulatory_region_variant,,ENSR00000334924,; G ENSG00000010438 ENST00000361005 Transcript missense_variant 274/966 274/915 92/304 L/V Ctc/Gtc rs149026348,COSM4381953,COSM4381954,COSM4381955,COSM4381956 1 1 PRSS3 HGNC HGNC:9486 protein_coding YES CCDS47958.1 ENSP00000354280 P35030 UPI000013C519 NM_007343.3 tolerated(1) benign(0.02) 2/5 Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 PASS TCT . . 33796705 MUC5AC . GRCh38 chr11 1184702 1184702 + Missense_Mutation SNP G G A rs1254297234 7316-222 BS_XWBMBWC6 G G c.6557G>A p.Arg2186Gln p.R2186Q ENST00000621226 31/49 73 60 11 26 26 0 MUC5AC,missense_variant,p.Arg2186Gln,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; A ENSG00000215182 ENST00000621226 Transcript missense_variant 6604/17448 6557/16965 2186/5654 R/Q cGg/cAg rs1254297234 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.52) unknown(0) 31/49 Pfam_domain:PF13330,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310 MODERATE 1 SNV 5 PASS CGG . . 1184702 RBM25 . GRCh38 chr14 73105899 73105900 + Frame_Shift_Del DEL AG AG - rs150988201 7316-222 BS_XWBMBWC6 AG AG c.1210_1211del p.Glu404ThrfsTer33 p.E404Tfs*33 ENST00000261973 11/19 70 59 5 42 37 0 RBM25,frameshift_variant,p.Glu404ThrfsTer33,ENST00000261973,NM_021239.2;RBM25,frameshift_variant,p.Glu404ThrfsTer33,ENST00000527432,;RBM25,downstream_gene_variant,,ENST00000525321,;RBM25,downstream_gene_variant,,ENST00000526754,;RBM25,downstream_gene_variant,,ENST00000532192,;RBM25,upstream_gene_variant,,ENST00000532483,;RBM25,3_prime_UTR_variant,,ENST00000528081,;RBM25,non_coding_transcript_exon_variant,,ENST00000532683,;RBM25,upstream_gene_variant,,ENST00000527449,;RBM25,upstream_gene_variant,,ENST00000530978,; - ENSG00000119707 ENST00000261973 Transcript frameshift_variant 1480-1481/6910 1195-1196/2532 399/843 R/X AGa/a rs150988201,COSM1370919 1 1 RBM25 HGNC HGNC:23244 protein_coding YES CCDS32113.1 ENSP00000261973 P49756 UPI0000373D58 NM_021239.2 11/19 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18806,hmmpanther:PTHR18806:SF4 0,1 HIGH 1 deletion 1 15 0,1 PASS AAAGA . . 0.03846 0.03692 0.06986 0.04223 0.05479 0.007073 0.03394 0.04309 0.05103 73105898 LINC01535 . GRCh38 chr19 37263083 37263083 + Splice_Site SNP G G A rs149815285 7316-222 BS_XWBMBWC6 G G n.1170-1G>A ENST00000592712 42 34 6 22 22 0 LINC01535,splice_acceptor_variant,,ENST00000592712,;LINC01535,intron_variant,,ENST00000438770,;LINC01535,intron_variant,,ENST00000587477,;LINC01535,intron_variant,,ENST00000588904,;LINC01535,intron_variant,,ENST00000591116,;LINC01535,intron_variant,,ENST00000592100,;AC016590.1,downstream_gene_variant,,ENST00000586324,;AC016590.1,downstream_gene_variant,,ENST00000586442,;AC016590.1,downstream_gene_variant,,ENST00000588763,;AC016590.1,downstream_gene_variant,,ENST00000590889,;AC016590.1,downstream_gene_variant,,ENST00000612804,;,regulatory_region_variant,,ENSR00000288263,; A ENSG00000226686 ENST00000592712 Transcript splice_acceptor_variant,non_coding_transcript_variant rs149815285 1 1 LINC01535 HGNC HGNC:51282 lincRNA YES 7/7 HIGH 1 SNV 1 PASS AGC . . 37263083 LILRA2 . GRCh38 chr19 54574907 54574907 + Missense_Mutation SNP T T C rs748077295 7316-222 BS_XWBMBWC6 T T c.529T>C p.Trp177Arg p.W177R ENST00000251377 5/9 120 100 14 42 42 0 LILRA2,missense_variant,p.Trp177Arg,ENST00000251376,NM_001290271.1,NM_006866.3;LILRA2,missense_variant,p.Trp177Arg,ENST00000251377,;LILRA2,missense_variant,p.Trp177Arg,ENST00000391738,NM_001130917.2;LILRA2,missense_variant,p.Trp177Arg,ENST00000439534,;LILRA2,missense_variant,p.Trp165Arg,ENST00000391737,NM_001290270.1;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;,regulatory_region_variant,,ENSR00000111531,; C ENSG00000239998 ENST00000251377 Transcript missense_variant 662/1799 529/1452 177/483 W/R Tgg/Cgg rs748077295 1 1 LILRA2 HGNC HGNC:6603 protein_coding YES CCDS46179.1 ENSP00000251377 Q8N149 UPI00034F238E tolerated(0.18) benign(0.005) 5/9 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 5 PASS CTG . . 2.436e-05 3.58e-05 6.497e-05 54574907 AP000547.2 . GRCh38 chr22 16526121 16526121 + Splice_Region SNP A A T rs201977621 7316-222 BS_XWBMBWC6 A A n.398+8A>T ENST00000609641 69 57 8 38 37 0 AP000547.2,splice_region_variant,,ENST00000609641,; T ENSG00000273362 ENST00000609641 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs201977621 1 1 AP000547.2 Clone_based_ensembl_gene lincRNA YES 2/2 LOW 1 SNV 5 PASS CAG . . 16526121 ASB9 . GRCh38 chrX 15236603 15236604 + Splice_Region INS - - A rs758049492 7316-222 BS_XWBMBWC6 - - c.508-4dup ENST00000477346 34 18 8 22 16 0 ASB9,splice_region_variant,,ENST00000477346,; A ENSG00000102048 ENST00000477346 Transcript splice_region_variant,intron_variant rs758049492 1 -1 ASB9 HGNC HGNC:17184 protein_coding ENSP00000473542 R4GN94 UPI0002B832F8 4/5 0.0105 0.009 0.0115 0.0079 0.0131 0.0111 LOW 1 insertion 2 PASS TCA . . 15236603 ERRFI1 . GRCh38 chr1 8026154 8026154 + Splice_Region SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.-74+4A>C ENST00000377482 79 60 10 36 34 0 ERRFI1,splice_region_variant,,ENST00000377482,NM_018948.3;ERRFI1,splice_region_variant,,ENST00000469499,;ERRFI1,splice_region_variant,,ENST00000474874,;AL034417.2,upstream_gene_variant,,ENST00000445300,;ERRFI1,splice_region_variant,,ENST00000487559,;,regulatory_region_variant,,ENSR00000000861,; G ENSG00000116285 ENST00000377482 Transcript splice_region_variant,intron_variant 1 -1 ERRFI1 HGNC HGNC:18185 protein_coding YES CCDS94.1 ENSP00000366702 Q9UJM3 I6S2Y9 UPI000012F0FC NM_018948.3 1/3 LOW 1 SNV 1 PASS CTT . . 8026154 RERE . GRCh38 chr1 8358640 8358640 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.3895A>C p.Ile1299Leu p.I1299L ENST00000337907 21/24 73 59 12 32 32 0 RERE,missense_variant,p.Ile1299Leu,ENST00000337907,NM_012102.3;RERE,missense_variant,p.Ile1031Leu,ENST00000377464,;RERE,missense_variant,p.Ile1299Leu,ENST00000400908,NM_001042681.1;RERE,missense_variant,p.Ile745Leu,ENST00000476556,NM_001042682.1;RERE,intron_variant,,ENST00000400907,;RERE,intron_variant,,ENST00000505225,;RERE,upstream_gene_variant,,ENST00000467350,; G ENSG00000142599 ENST00000337907 Transcript missense_variant 4530/8026 3895/4701 1299/1566 I/L Atc/Ctc 1 -1 RERE HGNC HGNC:9965 protein_coding YES CCDS95.1 ENSP00000338629 Q9P2R6 A0A024R4E9 UPI00001419CC NM_012102.3 tolerated_low_confidence(0.37) benign(0.099) 21/24 Gene3D:3.30.70.330,Pfam_domain:PF03154,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF12,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS ATG . . 8358640 KIAA2013 . GRCh38 chr1 11926134 11926134 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.104T>G p.Phe35Cys p.F35C ENST00000376572 1/3 71 51 17 39 39 0 KIAA2013,missense_variant,p.Phe35Cys,ENST00000376572,NM_138346.2;KIAA2013,missense_variant,p.Phe35Cys,ENST00000376576,;KIAA2013,missense_variant,p.Phe35Cys,ENST00000616327,;,regulatory_region_variant,,ENSR00000001461,; C ENSG00000116685 ENST00000376572 Transcript missense_variant 290/2815 104/1905 35/634 F/C tTt/tGt 1 -1 KIAA2013 HGNC HGNC:28513 protein_coding YES CCDS141.1 ENSP00000365756 Q8IYS2 UPI00000741FB NM_138346.2 deleterious(0) possibly_damaging(0.526) 1/3 Transmembrane_helices:TMhelix,hmmpanther:PTHR31386,Pfam_domain:PF10222 MODERATE 1 SNV 1 PASS AAA . . 11926134 ARID1A . GRCh38 chr1 26696614 26696614 + Missense_Mutation SNP A A C 7316-393 BS_SCCY3YMQ A A c.211A>C p.Lys71Gln p.K71Q ENST00000324856 1/20 51 33 10 26 24 0 ARID1A,missense_variant,p.Lys71Gln,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Lys71Gln,ENST00000457599,NM_139135.2;ARID1A,intron_variant,,ENST00000430799,;ARID1A,intron_variant,,ENST00000637465,;AL512408.1,upstream_gene_variant,,ENST00000569378,;,regulatory_region_variant,,ENSR00000250867,; C ENSG00000117713 ENST00000324856 Transcript missense_variant 582/8583 211/6858 71/2285 K/Q Aag/Cag COSM6931161 1 1 ARID1A HGNC HGNC:11110 protein_coding YES CCDS285.1 ENSP00000320485 O14497 UPI0000167B91 NM_006015.4 deleterious_low_confidence(0) benign(0.134) 1/20 mobidb-lite 1 MODERATE 1 SNV 1 1 1 PASS AAA . . 26696614 FAM229A . GRCh38 chr1 32361543 32361543 + Splice_Region SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.282-8T>G ENST00000432622 94 80 13 36 35 0 FAM229A,missense_variant,p.Ile39Met,ENST00000428500,;FAM229A,splice_region_variant,,ENST00000432622,NM_001167676.1;TSSK3,intron_variant,,ENST00000574315,;BSDC1,downstream_gene_variant,,ENST00000341071,NM_001300958.1;TSSK3,upstream_gene_variant,,ENST00000373534,NM_052841.3;BSDC1,downstream_gene_variant,,ENST00000419121,NM_001143889.2;BSDC1,downstream_gene_variant,,ENST00000446293,NM_001143888.2;BSDC1,downstream_gene_variant,,ENST00000455895,NM_018045.7;BSDC1,downstream_gene_variant,,ENST00000526031,NM_001143890.2;FAM229A,downstream_gene_variant,,ENST00000415596,;FAM229A,splice_region_variant,,ENST00000416512,;BSDC1,downstream_gene_variant,,ENST00000444377,; C ENSG00000225828 ENST00000432622 Transcript splice_region_variant,intron_variant 1 -1 FAM229A HGNC HGNC:44652 protein_coding YES CCDS57985.1 ENSP00000455971 H3BQW9 UPI0000252147 NM_001167676.1 2/2 LOW SNV 2 PASS AAA . . 32361543 CITED4 . GRCh38 chr1 40861815 40861815 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.313A>C p.Asn105His p.N105H ENST00000372638 1/1 70 56 11 40 40 0 CITED4,missense_variant,p.Asn105His,ENST00000372638,NM_133467.2;AC119677.1,upstream_gene_variant,,ENST00000414199,;,regulatory_region_variant,,ENSR00000005267,; G ENSG00000179862 ENST00000372638 Transcript missense_variant 552/1316 313/555 105/184 N/H Aac/Cac 1 -1 CITED4 HGNC HGNC:18696 protein_coding YES CCDS458.1 ENSP00000361721 Q96RK1 UPI000004241F NM_133467.2 tolerated(0.13) benign(0.202) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR17045:SF5,hmmpanther:PTHR17045 MODERATE SNV PASS TTG . . 40861815 C1orf123 . GRCh38 chr1 53220574 53220574 + Translation_Start_Site SNP A A C rs969093308 7316-393 BS_SCCY3YMQ A A c.2T>G p.Met1? p.M1? ENST00000294360 1/8 90 75 13 38 37 0 C1orf123,start_lost,p.Met1?,ENST00000294360,NM_017887.2,NM_001304759.1,NM_001304760.1;AL606760.3,upstream_gene_variant,,ENST00000569869,;C1orf123,non_coding_transcript_exon_variant,,ENST00000470385,;C1orf123,non_coding_transcript_exon_variant,,ENST00000474227,;C1orf123,non_coding_transcript_exon_variant,,ENST00000602807,;C1orf123,upstream_gene_variant,,ENST00000478839,;C1orf123,upstream_gene_variant,,ENST00000483739,;C1orf123,upstream_gene_variant,,ENST00000489755,;,regulatory_region_variant,,ENSR00000006493,; C ENSG00000162384 ENST00000294360 Transcript start_lost 44/1085 2/483 1/160 M/R aTg/aGg rs969093308 1 -1 C1orf123 HGNC HGNC:26059 protein_coding YES CCDS576.1 ENSP00000294360 Q9NWV4 UPI000006D354 NM_017887.2,NM_001304759.1,NM_001304760.1 deleterious(0) possibly_damaging(0.9) 1/8 hmmpanther:PTHR12857,Superfamily_domains:SSF141678 HIGH 1 SNV 1 PASS CAT . . 8.791e-06 1.891e-05 53220574 AMY2A . GRCh38 chr1 103619653 103619653 + Missense_Mutation SNP G G A rs149883399 7316-393 BS_SCCY3YMQ G G c.613G>A p.Gly205Ser p.G205S ENST00000622339 5/11 91 68 22 48 47 1 AMY2A,missense_variant,p.Gly205Ser,ENST00000622339,;AMY2A,missense_variant,p.Gly205Ser,ENST00000414303,NM_000699.3;AMY2A,intron_variant,,ENST00000423678,;AMY2A,upstream_gene_variant,,ENST00000497748,; A ENSG00000243480 ENST00000622339 Transcript missense_variant 908/1862 613/1536 205/511 G/S Ggt/Agt rs149883399 1 1 AMY2A HGNC HGNC:477 protein_coding YES CCDS783.1 ENSP00000481450 P04746 UPI0000000C80 deleterious(0) probably_damaging(0.993) 5/11 Gene3D:3.20.20.80,Pfam_domain:PF00128,hmmpanther:PTHR43447,hmmpanther:PTHR43447:SF3,SMART_domains:SM00642,Superfamily_domains:SSF51445,cd11317 0.0264 0.0002601 MODERATE 1 SNV 5 PASS TGG . . 0.002005 0.0264 0.001516 0.0001048 0.001704 103619653 FLG2 . GRCh38 chr1 152351898 152351898 + Missense_Mutation SNP C C A rs149671990 7316-393 BS_SCCY3YMQ C C c.5888G>T p.Gly1963Val p.G1963V ENST00000388718 3/3 75 65 8 38 37 0 FLG2,missense_variant,p.Gly1963Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 5961/9124 5888/7176 1963/2391 G/V gGg/gTg rs149671990 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.31) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS CCC . . 0.0001181 0.0001495 0.000207 0.0001829 152351898 FLG2 . GRCh38 chr1 152355334 152355334 + Missense_Mutation SNP C C A rs201979853 7316-393 BS_SCCY3YMQ C C c.2452G>T p.Ala818Ser p.A818S ENST00000388718 3/3 66 50 13 31 29 1 FLG2,missense_variant,p.Ala818Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 2525/9124 2452/7176 818/2391 A/S Gct/Tct rs201979853,COSM5950887 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCG . . 2.404e-05 0.0001749 1.012e-05 0.0002303 3.854e-05 152355334 MUC1 . GRCh38 chr1 155192008 155192008 + Missense_Mutation SNP T T C rs1331247460 7316-393 BS_SCCY3YMQ T T c.361A>G p.Thr121Ala p.T121A ENST00000612778 2/8 80 61 9 40 36 1 MUC1,missense_variant,p.Thr112Ala,ENST00000611571,;MUC1,missense_variant,p.Thr121Ala,ENST00000612778,NM_001204286.1;MUC1,missense_variant,p.Thr112Ala,ENST00000620103,NM_001204285.1;MUC1,missense_variant,p.Thr109Ala,ENST00000611577,;MUC1,intron_variant,,ENST00000337604,NM_001204287.1,NM_002456.5;MUC1,intron_variant,,ENST00000338684,NM_001204291.1,NM_001204289.1;MUC1,intron_variant,,ENST00000342482,;MUC1,intron_variant,,ENST00000343256,NM_001204296.1,NM_001044390.2;MUC1,intron_variant,,ENST00000368389,NM_001204297.1;MUC1,intron_variant,,ENST00000368390,NM_001018017.2;MUC1,intron_variant,,ENST00000368392,NM_001204288.1,NM_001018016.2;MUC1,intron_variant,,ENST00000368393,NM_001204293.1;MUC1,intron_variant,,ENST00000368396,NM_001044391.2,NM_001044392.2;MUC1,intron_variant,,ENST00000368398,NM_001204294.1;MUC1,intron_variant,,ENST00000438413,NM_001204290.1;MUC1,intron_variant,,ENST00000457295,;MUC1,intron_variant,,ENST00000462215,;MUC1,intron_variant,,ENST00000471283,NM_001044393.2;MUC1,intron_variant,,ENST00000610359,NM_001204292.1;MUC1,intron_variant,,ENST00000614519,;MUC1,intron_variant,,ENST00000615517,NM_001204295.1;THBS3,downstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,downstream_gene_variant,,ENST00000457183,NM_001252608.1;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000485118,;THBS3,downstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,downstream_gene_variant,,ENST00000541990,;MIR92B,upstream_gene_variant,,ENST00000607575,;AC234582.1,upstream_gene_variant,,ENST00000447623,;MUC1,downstream_gene_variant,,ENST00000466913,;MUC1,non_coding_transcript_exon_variant,,ENST00000620770,;MUC1,intron_variant,,ENST00000467134,;MUC1,intron_variant,,ENST00000498431,;MUC1,intron_variant,,ENST00000610468,;MUC1,upstream_gene_variant,,ENST00000468978,;THBS3,downstream_gene_variant,,ENST00000469769,;AL713999.1,upstream_gene_variant,,ENST00000473363,;THBS3,downstream_gene_variant,,ENST00000498500,;,regulatory_region_variant,,ENSR00000014040,; C ENSG00000185499 ENST00000612778 Transcript missense_variant 433/1836 361/1455 121/484 T/A Acc/Gcc rs1331247460 1 -1 MUC1 HGNC HGNC:7508 protein_coding YES CCDS72933.1 ENSP00000484824 A0A087X2A4 UPI000059C524 NM_001204286.1 tolerated(0.39) benign(0.006) 2/8 hmmpanther:PTHR10006,mobidb-lite MODERATE SNV 5 1 PASS GTG . . 155192008 INSRR . GRCh38 chr1 156852155 156852155 + Missense_Mutation SNP C C T novel 7316-393 BS_SCCY3YMQ C C c.674G>A p.Arg225Lys p.R225K ENST00000368195 3/22 83 66 16 38 37 0 INSRR,missense_variant,p.Arg225Lys,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,; T ENSG00000027644 ENST00000368195 Transcript missense_variant 1071/5101 674/3894 225/1297 R/K aGg/aAg 1 -1 INSRR HGNC HGNC:6093 protein_coding YES CCDS1160.1 ENSP00000357178 P14616 UPI000012D8BD NM_014215.2 tolerated(0.65) benign(0) 3/22 Gene3D:3.80.20.20,PIRSF_domain:PIRSF000620,Pfam_domain:PF00757,SMART_domains:SM00261,Superfamily_domains:SSF57184,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS CCT . . 156852155 CACNA1E . GRCh38 chr1 181413575 181413575 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.429A>C p.Glu143Asp p.E143D ENST00000524607 2/12 67 52 13 41 41 0 CACNA1E,missense_variant,p.Glu143Asp,ENST00000524607,; C ENSG00000198216 ENST00000524607 Transcript missense_variant 877/2198 429/1750 143/583 E/D gaA/gaC 1 1 CACNA1E HGNC HGNC:1392 protein_coding ENSP00000432038 E9PIE8 UPI000D1980C4 deleterious_low_confidence(0.01) probably_damaging(0.99) 2/12 MODERATE 1 SNV 5 PASS AAT . . 181413575 MAPKAPK2 . GRCh38 chr1 206685269 206685269 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.40T>G p.Phe14Val p.F14V ENST00000367103 1/10 46 38 7 30 29 0 MAPKAPK2,missense_variant,p.Phe14Val,ENST00000367103,NM_032960.3;MAPKAPK2,missense_variant,p.Phe14Val,ENST00000294981,NM_004759.4;DYRK3,downstream_gene_variant,,ENST00000489878,;,regulatory_region_variant,,ENSR00000019020,; G ENSG00000162889 ENST00000367103 Transcript missense_variant 233/2961 40/1203 14/400 F/V Ttc/Gtc 1 1 MAPKAPK2 HGNC HGNC:6887 protein_coding YES CCDS31001.1 ENSP00000356070 P49137 UPI0000112289 NM_032960.3 tolerated_low_confidence(0.58) benign(0.011) 1/10 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 206685269 MTA3 . GRCh38 chr2 42568758 42568758 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.13A>C p.Met5Leu p.M5L ENST00000405094 1/17 64 52 9 33 32 0 MTA3,missense_variant,p.Met5Leu,ENST00000407270,NM_020744.3;MTA3,missense_variant,p.Met5Leu,ENST00000406911,;MTA3,missense_variant,p.Met5Leu,ENST00000405094,;MTA3,intron_variant,,ENST00000405592,NM_001282755.1;MTA3,intron_variant,,ENST00000406652,NM_001282756.1,NM_001330442.1,NM_001330443.1;MTA3,upstream_gene_variant,,ENST00000433553,;MTA3,intron_variant,,ENST00000461256,;MTA3,intron_variant,,ENST00000484780,;MTA3,upstream_gene_variant,,ENST00000493983,;MTA3,missense_variant,p.Met5Leu,ENST00000409019,;MTA3,missense_variant,p.Met5Leu,ENST00000454356,;MTA3,missense_variant,p.Met5Leu,ENST00000430763,;,regulatory_region_variant,,ENSR00000116006,; C ENSG00000057935 ENST00000405094 Transcript missense_variant 13/1785 13/1785 5/594 M/L Atg/Ctg 1 1 MTA3 HGNC HGNC:23784 protein_coding YES CCDS82441.1 ENSP00000385823 Q9BTC8 UPI000012F745 tolerated(0.13) benign(0.015) 1/17 PROSITE_profiles:PS51038,cd04709,hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF6,Pfam_domain:PF01426,SMART_domains:SM00439 MODERATE 1 SNV 5 PASS CAT . . 42568758 TGOLN2 . GRCh38 chr2 85327274 85327274 + Missense_Mutation SNP C C G rs201124506 7316-393 BS_SCCY3YMQ C C c.458G>C p.Arg153Thr p.R153T ENST00000409232 2/4 70 53 6 35 34 0 TGOLN2,missense_variant,p.Arg153Thr,ENST00000377386,NM_006464.3;TGOLN2,missense_variant,p.Arg153Thr,ENST00000282120,NM_001206840.1;TGOLN2,missense_variant,p.Arg153Thr,ENST00000398263,NM_001206844.1;TGOLN2,missense_variant,p.Arg153Thr,ENST00000409015,;TGOLN2,missense_variant,p.Arg153Thr,ENST00000409232,NM_001206841.1;TGOLN2,missense_variant,p.Arg153Thr,ENST00000444342,;,regulatory_region_variant,,ENSR00000119552,; G ENSG00000152291 ENST00000409232 Transcript missense_variant 520/2235 458/1362 153/453 R/T aGg/aCg rs201124506,COSM5950301,COSM5950300 1 -1 TGOLN2 HGNC HGNC:15450 protein_coding YES CCDS56126.1 ENSP00000386443 O43493 UPI000020880A NM_001206841.1 deleterious(0.02) benign(0.017) 2/4 hmmpanther:PTHR23211,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCT . . 4.082e-06 6.545e-05 85327274 SPEG . GRCh38 chr2 219448785 219448785 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.1627A>C p.Lys543Gln p.K543Q ENST00000312358 4/41 78 66 8 33 33 0 SPEG,missense_variant,p.Lys543Gln,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Lys439Gln,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000403148,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000452101,;,regulatory_region_variant,,ENSR00000130551,; C ENSG00000072195 ENST00000312358 Transcript missense_variant 1759/10782 1627/9804 543/3267 K/Q Aag/Cag 1 1 SPEG HGNC HGNC:16901 protein_coding YES CCDS42824.1 ENSP00000311684 Q15772 UPI000066D99E NM_005876.4 tolerated(0.07) benign(0.182) 4/41 hmmpanther:PTHR45065,mobidb-lite MODERATE 1 SNV 5 1 PASS CAA . . 219448785 SPEG . GRCh38 chr2 219449128 219449128 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.1970T>G p.Leu657Trp p.L657W ENST00000312358 4/41 84 68 10 27 27 0 SPEG,missense_variant,p.Leu657Trp,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Leu553Trp,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000403148,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000452101,;,regulatory_region_variant,,ENSR00000130551,; G ENSG00000072195 ENST00000312358 Transcript missense_variant 2102/10782 1970/9804 657/3267 L/W tTg/tGg 1 1 SPEG HGNC HGNC:16901 protein_coding YES CCDS42824.1 ENSP00000311684 Q15772 UPI000066D99E NM_005876.4 deleterious(0) possibly_damaging(0.887) 4/41 hmmpanther:PTHR45065,mobidb-lite MODERATE 1 SNV 5 1 PASS TTG . . 219449128 CHPF . GRCh38 chr2 219543369 219543369 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.170A>C p.Asn57Thr p.N57T ENST00000243776 1/4 88 79 9 27 26 0 CHPF,missense_variant,p.Asn57Thr,ENST00000243776,NM_024536.5;CHPF,missense_variant,p.Asn57Thr,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000344458,NM_001303098.1;ASIC4,downstream_gene_variant,,ENST00000347842,NM_182847.2;ASIC4,downstream_gene_variant,,ENST00000358078,NM_018674.5;TMEM198,upstream_gene_variant,,ENST00000373883,NM_001005209.2;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000451952,;CHPF,upstream_gene_variant,,ENST00000535926,NM_001195731.1;AC009955.3,downstream_gene_variant,,ENST00000596829,;ASIC4,downstream_gene_variant,,ENST00000474489,;,regulatory_region_variant,,ENSR00000130573,; G ENSG00000123989 ENST00000243776 Transcript missense_variant 419/3013 170/2328 57/775 N/T aAc/aCc 1 -1 CHPF HGNC HGNC:24291 protein_coding YES CCDS2443.1 ENSP00000243776 Q8IZ52 UPI00001AE6D6 NM_024536.5 tolerated(0.41) benign(0.019) 1/4 hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF22,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 219543369 VILL . GRCh38 chr3 37998356 37998356 + Missense_Mutation SNP C C T rs766884292 7316-393 BS_SCCY3YMQ C C c.934C>T p.Arg312Trp p.R312W ENST00000283713 9/20 79 59 18 32 32 0 VILL,missense_variant,p.Arg312Trp,ENST00000283713,;VILL,missense_variant,p.Arg312Trp,ENST00000383759,NM_015873.3;VILL,intron_variant,,ENST00000465644,;VILL,downstream_gene_variant,,ENST00000416303,;VILL,downstream_gene_variant,,ENST00000492491,;VILL,missense_variant,p.Arg14Trp,ENST00000412008,;VILL,non_coding_transcript_exon_variant,,ENST00000484717,;VILL,downstream_gene_variant,,ENST00000460040,;VILL,upstream_gene_variant,,ENST00000463080,;VILL,upstream_gene_variant,,ENST00000486616,; T ENSG00000136059 ENST00000283713 Transcript missense_variant 1200/2970 934/2571 312/856 R/W Cgg/Tgg rs766884292 1 1 VILL HGNC HGNC:30906 protein_coding YES CCDS2670.2 ENSP00000283713 O15195 UPI000022BFB0 deleterious(0.01) benign(0.418) 9/20 Gene3D:3.40.20.10,Pfam_domain:PF00626,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF30,SMART_domains:SM00262,Superfamily_domains:SSF82754,cd11292 MODERATE 1 SNV 1 PASS CCG . . 1.219e-05 6.537e-05 8.958e-06 3.249e-05 37998356 NKX3-2 . GRCh38 chr4 13544353 13544353 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.62A>C p.Lys21Thr p.K21T ENST00000382438 1/2 91 74 11 36 35 0 NKX3-2,missense_variant,p.Lys21Thr,ENST00000382438,NM_001189.3;LINC01096,downstream_gene_variant,,ENST00000501050,;LINC01096,downstream_gene_variant,,ENST00000503938,;,regulatory_region_variant,,ENSR00000166033,; G ENSG00000109705 ENST00000382438 Transcript missense_variant 698/2801 62/1002 21/333 K/T aAa/aCa 1 -1 NKX3-2 HGNC HGNC:951 protein_coding YES CCDS3410.1 ENSP00000371875 P78367 UPI00001301F5 NM_001189.3 deleterious(0) possibly_damaging(0.559) 1/2 hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF34 MODERATE 1 SNV 1 1 PASS TTT . . 13544353 PCDH7 . GRCh38 chr4 30722039 30722039 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.617A>C p.Tyr206Ser p.Y206S ENST00000543491 1/1 89 71 18 37 35 2 PCDH7,missense_variant,p.Tyr206Ser,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Tyr206Ser,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,upstream_gene_variant,,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000507864,;,regulatory_region_variant,,ENSR00000167180,; C ENSG00000169851 ENST00000543491 Transcript missense_variant 1187/4457 617/3219 206/1072 Y/S tAc/tCc 1 1 PCDH7 HGNC HGNC:8659 protein_coding YES CCDS75116.1 ENSP00000441802 O60245 UPI00001615DB NM_032456.2 tolerated(0.4) benign(0.025) 1/1 mobidb-lite,cd11304,Gene3D:2.60.40.60,SMART_domains:SM00112,PROSITE_profiles:PS50268,hmmpanther:PTHR43912,hmmpanther:PTHR43912:SF8 MODERATE 1 SNV PASS TAC . . 30722039 TRIO . GRCh38 chr5 14487680 14487680 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.7052T>G p.Val2351Gly p.V2351G ENST00000344204 48/57 45 33 8 23 22 0 TRIO,missense_variant,p.Val2351Gly,ENST00000344204,NM_007118.3;TRIO,missense_variant,p.Val2084Gly,ENST00000513206,;TRIO,intron_variant,,ENST00000620511,;TRIO,upstream_gene_variant,,ENST00000344135,;TRIO,missense_variant,p.Val2292Gly,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;TRIO,non_coding_transcript_exon_variant,,ENST00000510281,;TRIO,upstream_gene_variant,,ENST00000503399,;,regulatory_region_variant,,ENSR00000178354,; G ENSG00000038382 ENST00000344204 Transcript missense_variant 7076/11100 7052/9294 2351/3097 V/G gTg/gGg 1 1 TRIO HGNC HGNC:12303 protein_coding YES CCDS3883.1 ENSP00000339299 O75962 UPI000034ECE6 NM_007118.3 tolerated(0.27) benign(0) 48/57 hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF104,mobidb-lite MODERATE 1 SNV 1 1 PASS GTG . . 14487680 MARCH11 . GRCh38 chr5 16179229 16179229 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.347A>C p.Lys116Thr p.K116T ENST00000332432 1/4 79 65 10 31 31 0 MARCH11,missense_variant,p.Lys116Thr,ENST00000332432,NM_001102562.1;MARCH11,upstream_gene_variant,,ENST00000507111,;AC092335.1,upstream_gene_variant,,ENST00000509037,;MARCH11,intron_variant,,ENST00000505509,; G ENSG00000183654 ENST00000332432 Transcript missense_variant 547/1741 347/1209 116/402 K/T aAa/aCa 1 -1 MARCH11 HGNC HGNC:33609 protein_coding YES CCDS47192.1 ENSP00000333181 A6NNE9 UPI00015B3D4A NM_001102562.1 deleterious(0.04) benign(0.051) 1/4 hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF67,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS TTT . . 16179229 FOXD1 . GRCh38 chr5 73447788 73447788 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.575A>C p.Asn192Thr p.N192T ENST00000615637 1/1 61 52 8 39 38 0 FOXD1,missense_variant,p.Asn192Thr,ENST00000615637,NM_004472.2;LINC01385,upstream_gene_variant,,ENST00000512310,;FOXD1-AS1,downstream_gene_variant,,ENST00000514661,;FOXD1,upstream_gene_variant,,ENST00000513595,;,regulatory_region_variant,,ENSR00000182415,; G ENSG00000251493 ENST00000615637 Transcript missense_variant 740/2272 575/1398 192/465 N/T aAc/aCc 1 -1 FOXD1 HGNC HGNC:3802 protein_coding YES CCDS75259.1 ENSP00000481581 Q16676 UPI000012ADC8 NM_004472.2 deleterious(0) probably_damaging(0.952) 1/1 cd00059,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF329,hmmpanther:PTHR11829 MODERATE SNV PASS GTT . . 73447788 ZNF879 . GRCh38 chr5 179023907 179023907 + Splice_Region SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.-36+3A>C ENST00000444149 88 76 11 33 33 0 ZNF879,splice_region_variant,,ENST00000444149,NM_001136116.1;ZNF879,splice_region_variant,,ENST00000519896,;ZNF879,5_prime_UTR_variant,,ENST00000522442,;ZNF879,upstream_gene_variant,,ENST00000521285,;,regulatory_region_variant,,ENSR00000191499,; C ENSG00000234284 ENST00000444149 Transcript splice_region_variant,intron_variant 1 1 ZNF879 HGNC HGNC:37273 protein_coding YES CCDS47352.1 ENSP00000414887 B4DU55 UPI000022C878 NM_001136116.1 1/4 LOW 1 SNV 1 PASS TAC . . 179023907 FAM8A1 . GRCh38 chr6 17600607 17600607 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.198A>C p.Lys66Asn p.K66N ENST00000259963 1/5 60 46 12 31 30 0 FAM8A1,missense_variant,p.Lys66Asn,ENST00000259963,NM_016255.2;,regulatory_region_variant,,ENSR00000194167,; C ENSG00000137414 ENST00000259963 Transcript missense_variant 253/4677 198/1242 66/413 K/N aaA/aaC 1 1 FAM8A1 HGNC HGNC:16372 protein_coding YES CCDS4540.1 ENSP00000259963 Q9UBU6 A0A024R006 UPI0000062300 NM_016255.2 tolerated_low_confidence(0.16) benign(0) 1/5 hmmpanther:PTHR13659,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 17600607 MDC1 . GRCh38 chr6 30704586 30704586 + Missense_Mutation SNP C C A 7316-393 BS_SCCY3YMQ C C c.4597G>T p.Ala1533Ser p.A1533S ENST00000376406 10/15 65 42 12 49 42 0 MDC1,missense_variant,p.Ala1533Ser,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 5245/7576 4597/6270 1533/2089 A/S Gca/Tca COSM5950854,COSM5950853 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 deleterious(0) benign(0.035) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 1,1 MODERATE SNV 5 1,1 PASS GCG . . 30704586 MDC1 . GRCh38 chr6 30704981 30704981 + Missense_Mutation SNP C C A rs748601560 7316-393 BS_SCCY3YMQ C C c.4202G>T p.Gly1401Val p.G1401V ENST00000376406 10/15 63 45 13 45 43 1 MDC1,missense_variant,p.Gly1401Val,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4850/7576 4202/6270 1401/2089 G/V gGc/gTc rs748601560 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GCC . . 0.007351 0.01338 0.01103 0.003108 0.01969 0.0009711 0.005031 0.01102 0.009859 30704981 MDC1 . GRCh38 chr6 30705062 30705062 + Missense_Mutation SNP G G T rs1248499193 7316-393 BS_SCCY3YMQ G G c.4121C>A p.Pro1374Gln p.P1374Q ENST00000376406 10/15 56 44 9 43 41 0 MDC1,missense_variant,p.Pro1374Gln,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 4769/7576 4121/6270 1374/2089 P/Q cCa/cAa rs1248499193 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS TGG . . 30705062 HLA-C . GRCh38 chr6 31272050 31272050 + Missense_Mutation SNP C C T rs2308525 7316-393 BS_SCCY3YMQ C C c.22G>A p.Ala8Thr p.A8T ENST00000376228 1/8 44 32 10 30 27 2 HLA-C,missense_variant,p.Ala8Thr,ENST00000383329,;HLA-C,missense_variant,p.Ala8Thr,ENST00000376228,NM_002117.5;HLA-C,missense_variant,p.Ala8Thr,ENST00000415537,;HLA-C,5_prime_UTR_variant,,ENST00000640219,;HLA-B,intron_variant,,ENST00000640615,;HLA-C,missense_variant,p.Ala8Thr,ENST00000376237,;HLA-C,non_coding_transcript_exon_variant,,ENST00000487245,;HLA-C,non_coding_transcript_exon_variant,,ENST00000495835,;HLA-C,non_coding_transcript_exon_variant,,ENST00000484378,;HLA-C,upstream_gene_variant,,ENST00000466892,;HLA-C,upstream_gene_variant,,ENST00000470363,;,regulatory_region_variant,,ENSR00000195522,;USP8P1,upstream_gene_variant,,ENST00000494673,; T ENSG00000204525 ENST00000376228 Transcript missense_variant 37/1536 22/1101 8/366 A/T Gcc/Acc rs2308525,COSM4160779,COSM4160778,COSM4160777 1 -1 HLA-C HGNC HGNC:4933 protein_coding YES CCDS34393.1 ENSP00000365402 P10321 Q6R739 UPI000008AEBB NM_002117.5 tolerated_low_confidence(1) benign(0) 1/8 PDB-ENSP_mappings:3bzf.P,PDB-ENSP_mappings:3bzf.Q,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF186,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0.7532 0.7095 0.8026 0.8135 0.7157 0.7536 0.6914 0.6785 0,1,1,1 MODERATE 1 SNV 0,1,1,1 1 PASS GCT . . 0.7181 0.7087 0.7427 0.8416 0.8037 0.7104 0.6787 0.7326 0.7506 31272050 RAB44 . GRCh38 chr6 36721722 36721722 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.1588A>C p.Lys530Gln p.K530Q ENST00000612677 9/14 65 56 8 34 33 0 RAB44,missense_variant,p.Lys530Gln,ENST00000612677,NM_001257357.1; C ENSG00000255587 ENST00000612677 Transcript missense_variant 1706/4274 1588/3066 530/1021 K/Q Aag/Cag 1 1 RAB44 HGNC HGNC:21068 protein_coding YES CCDS75442.1 ENSP00000481054 A0A087WXI0 UPI0002656658 NM_001257357.1 tolerated(0.17) benign(0.109) 9/14 mobidb-lite,hmmpanther:PTHR24073:SF519,hmmpanther:PTHR24073 MODERATE 1 SNV 5 PASS CAA . . 36721722 SRF . GRCh38 chr6 43171796 43171796 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.140A>C p.Asn47Thr p.N47T ENST00000265354 1/7 73 62 8 41 41 0 SRF,missense_variant,p.Asn47Thr,ENST00000265354,NM_001292001.1,NM_003131.3;,regulatory_region_variant,,ENSR00000197100,; C ENSG00000112658 ENST00000265354 Transcript missense_variant 498/4202 140/1527 47/508 N/T aAt/aCt 1 1 SRF HGNC HGNC:11291 protein_coding YES CCDS4889.1 ENSP00000265354 P11831 A0A024RD16 UPI0000135F3B NM_001292001.1,NM_003131.3 deleterious_low_confidence(0) benign(0.007) 1/7 mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 43171796 GPR6 . GRCh38 chr6 109979209 109979209 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.142A>C p.Thr48Pro p.T48P ENST00000414000 3/3 77 58 13 36 35 1 GPR6,missense_variant,p.Thr48Pro,ENST00000414000,NM_001286099.1;GPR6,missense_variant,p.Thr33Pro,ENST00000275169,NM_005284.4;,regulatory_region_variant,,ENSR00000322481,; C ENSG00000146360 ENST00000414000 Transcript missense_variant 436/1945 142/1134 48/377 T/P Acg/Ccg 1 1 GPR6 HGNC HGNC:4515 protein_coding YES CCDS69172.1 ENSP00000406986 P46095 UPI0001AE72E0 NM_001286099.1 tolerated_low_confidence(0.21) benign(0) 3/3 hmmpanther:PTHR22750:SF19,hmmpanther:PTHR22750,Prints_domain:PR00649 MODERATE 1 SNV 2 PASS CAC . . 109979209 ZC3H12D . GRCh38 chr6 149451415 149451415 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.852A>C p.Gln284His p.Q284H ENST00000409806 6/6 94 82 8 34 34 0 ZC3H12D,missense_variant,p.Gln284His,ENST00000409806,NM_207360.2;ZC3H12D,downstream_gene_variant,,ENST00000458251,;ZC3H12D,upstream_gene_variant,,ENST00000498662,;,regulatory_region_variant,,ENSR00000205029,; G ENSG00000178199 ENST00000409806 Transcript missense_variant 1171/5791 852/1584 284/527 Q/H caA/caC 1 -1 ZC3H12D HGNC HGNC:21175 protein_coding YES CCDS47500.2 ENSP00000386616 A2A288 UPI00002377F7 NM_207360.2 deleterious(0.04) benign(0.039) 6/6 hmmpanther:PTHR12876:SF11,hmmpanther:PTHR12876 MODERATE 1 SNV 1 PASS GTT . . 149451415 TNS3 . GRCh38 chr7 47506949 47506950 + Splice_Region INS - - A rs761421522 7316-393 BS_SCCY3YMQ - - c.-152-6dup ENST00000311160 92 68 15 23 21 0 TNS3,splice_region_variant,,ENST00000311160,NM_022748.11;TNS3,splice_region_variant,,ENST00000434451,;TNS3,splice_region_variant,,ENST00000442536,;TNS3,splice_region_variant,,ENST00000450444,;TNS3,splice_region_variant,,ENST00000457718,;TNS3,splice_region_variant,,ENST00000458317,; A ENSG00000136205 ENST00000311160 Transcript splice_region_variant,intron_variant rs761421522 1 -1 TNS3 HGNC HGNC:21616 protein_coding YES CCDS5506.2 ENSP00000312143 Q68CZ2 UPI00001AE9DA NM_022748.11 2/30 LOW 1 insertion 1 PASS GGA . . 0.005201 0.01626 0.003753 0.006749 0.003801 0.002899 0.003771 0.00466 0.008866 47506949 AHCYL2 . GRCh38 chr7 129225275 129225275 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.199T>G p.Ser67Ala p.S67A ENST00000325006 1/17 65 53 9 44 42 0 AHCYL2,missense_variant,p.Ser67Ala,ENST00000325006,NM_015328.3;AHCYL2,missense_variant,p.Ser67Ala,ENST00000446544,NM_001130720.2;,regulatory_region_variant,,ENSR00000217839,; G ENSG00000158467 ENST00000325006 Transcript missense_variant 253/5056 199/1836 67/611 S/A Tcg/Gcg 1 1 AHCYL2 HGNC HGNC:22204 protein_coding YES CCDS5812.1 ENSP00000315931 Q96HN2 UPI00001354E4 NM_015328.3 tolerated_low_confidence(0.15) benign(0.001) 1/17 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CTC . . 129225275 TAS2R5 . GRCh38 chr7 141791070 141791070 + Missense_Mutation SNP G G A novel 7316-393 BS_SCCY3YMQ G G c.709G>A p.Ala237Thr p.A237T ENST00000247883 1/1 67 54 12 34 33 0 TAS2R5,missense_variant,p.Ala237Thr,ENST00000247883,NM_018980.2;SSBP1,downstream_gene_variant,,ENST00000465582,;TAS2R6P,downstream_gene_variant,,ENST00000605022,; A ENSG00000127366 ENST00000247883 Transcript missense_variant 854/1151 709/900 237/299 A/T Gcc/Acc 1 1 TAS2R5 HGNC HGNC:14912 protein_coding YES CCDS5869.1 ENSP00000247883 Q9NYW4 A4D1U0 UPI0000038B0D NM_018980.2 deleterious(0.05) probably_damaging(0.998) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF8,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd13950 MODERATE 1 SNV PASS GGC . . 141791070 JPH1 . GRCh38 chr8 74321287 74321287 + Translation_Start_Site SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.1A>C p.Met1? p.M1? ENST00000342232 1/6 75 66 8 31 30 1 JPH1,start_lost,p.Met1?,ENST00000342232,NM_020647.3,NM_001317830.1;GDAP1,intron_variant,,ENST00000521096,;GDAP1,upstream_gene_variant,,ENST00000520797,;JPH1,start_lost,p.Met1?,ENST00000519947,;,regulatory_region_variant,,ENSR00000225966,; G ENSG00000104369 ENST00000342232 Transcript start_lost 42/4378 1/1986 1/661 M/L Atg/Ctg 1 -1 JPH1 HGNC HGNC:14201 protein_coding YES CCDS6217.1 ENSP00000344488 Q9HDC5 UPI000012DAC0 NM_020647.3,NM_001317830.1 deleterious(0.01) possibly_damaging(0.746) 1/6 PIRSF_domain:PIRSF037387 HIGH 1 SNV 1 1 PASS ATT . . 74321287 ADGRB1 . GRCh38 chr8 142542526 142542526 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.4292A>C p.Asn1431Thr p.N1431T ENST00000517894 28/31 45 37 7 32 30 1 ADGRB1,missense_variant,p.Asn1431Thr,ENST00000517894,;ADGRB1,missense_variant,p.Asn1428Thr,ENST00000643448,;ADGRB1,missense_variant,p.Asn1431Thr,ENST00000323289,NM_001702.2;ADGRB1,3_prime_UTR_variant,,ENST00000521208,;ADGRB1,upstream_gene_variant,,ENST00000518812,;ADGRB1,downstream_gene_variant,,ENST00000518820,; C ENSG00000181790 ENST00000517894 Transcript missense_variant 5186/6241 4292/4755 1431/1584 N/T aAt/aCt 1 1 ADGRB1 HGNC HGNC:943 protein_coding YES CCDS64985.1 ENSP00000430945 O14514 UPI00002109E8 tolerated(0.91) benign(0) 28/31 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AAT . . 142542526 IQANK1 . GRCh38 chr8 143771804 143771804 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.310T>G p.Tyr104Asp p.Y104D ENST00000527139 5/14 77 66 11 39 37 0 IQANK1,missense_variant,p.Tyr104Asp,ENST00000527139,;AC105219.4,splice_region_variant,,ENST00000529743,;,regulatory_region_variant,,ENSR00000232142,; G ENSG00000203499 ENST00000527139 Transcript missense_variant 394/1803 310/1683 104/560 Y/D Tac/Gac 1 1 IQANK1 HGNC HGNC:49576 protein_coding YES ENSP00000489685 A0A1B0GTG1 UPI0007E52B2B deleterious(0.01) possibly_damaging(0.869) 5/14 MODERATE SNV 5 PASS CTA . . 143771804 SCRT1 . GRCh38 chr8 144333795 144333795 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.437A>C p.Asp146Ala p.D146A ENST00000569446 2/2 60 48 9 32 31 0 SCRT1,missense_variant,p.Asp146Ala,ENST00000569446,NM_031309.5; G ENSG00000261678 ENST00000569446 Transcript missense_variant 549/3779 437/1047 146/348 D/A gAc/gCc 1 -1 SCRT1 HGNC HGNC:15950 protein_coding YES CCDS6421.1 ENSP00000455711 Q9BWW7 UPI0000457711 NM_031309.5 tolerated_low_confidence(0.75) benign(0) 2/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44270:SF1,hmmpanther:PTHR44270,Gene3D:3.30.160.60 MODERATE 1 SNV 1 PASS GTC . . 144333795 FBXL6 . GRCh38 chr8 144358104 144358104 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.344T>G p.Ile115Ser p.I115S ENST00000331890 1/9 76 62 13 47 46 1 FBXL6,missense_variant,p.Ile115Ser,ENST00000331890,NM_012162.3;FBXL6,missense_variant,p.Ile115Ser,ENST00000455319,NM_024555.5;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,upstream_gene_variant,,ENST00000329994,NM_024531.4;SLC52A2,upstream_gene_variant,,ENST00000402965,NM_001253815.1;SLC52A2,upstream_gene_variant,,ENST00000526338,;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000527078,;SLC52A2,upstream_gene_variant,,ENST00000530047,NM_001253816.1;SLC52A2,upstream_gene_variant,,ENST00000532887,;SLC52A2,upstream_gene_variant,,ENST00000534725,;TMEM249,upstream_gene_variant,,ENST00000562477,NM_001252404.2;TMEM249,upstream_gene_variant,,ENST00000565365,NM_001252402.2,NM_001280561.1;SLC52A2,upstream_gene_variant,,ENST00000643944,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530687,;SLC52A2,intron_variant,,ENST00000532815,;FBXL6,upstream_gene_variant,,ENST00000524909,;FBXL6,upstream_gene_variant,,ENST00000526524,;SLC52A2,upstream_gene_variant,,ENST00000526891,;FBXL6,upstream_gene_variant,,ENST00000527000,;SLC52A2,downstream_gene_variant,,ENST00000644270,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530142,;FBXL6,upstream_gene_variant,,ENST00000524492,;SLC52A2,upstream_gene_variant,,ENST00000526779,;FBXL6,upstream_gene_variant,,ENST00000529279,;AC233992.2,upstream_gene_variant,,ENST00000531225,;SLC52A2,upstream_gene_variant,,ENST00000533662,;TMEM249,upstream_gene_variant,,ENST00000561638,;,regulatory_region_variant,,ENSR00000232236,; C ENSG00000182325 ENST00000331890 Transcript missense_variant 409/1785 344/1620 115/539 I/S aTt/aGt 1 -1 FBXL6 HGNC HGNC:13603 protein_coding YES CCDS6422.1 ENSP00000330098 Q8N531 UPI0002064E15 NM_012162.3 deleterious(0) possibly_damaging(0.791) 1/9 Gene3D:3.80.10.10,Pfam_domain:PF12937,hmmpanther:PTHR44721,Superfamily_domains:SSF81383 MODERATE 1 SNV 1 PASS AAT . . 144358104 FBXO10 . GRCh38 chr9 37541531 37541531 + Frame_Shift_Del DEL G G - novel 7316-393 BS_SCCY3YMQ G G c.238del p.Ala81HisfsTer30 p.A81Hfs*30 ENST00000432825 2/11 75 59 13 32 31 0 FBXO10,frameshift_variant,p.Ala81HisfsTer30,ENST00000432825,NM_012166.2;FBXO10,downstream_gene_variant,,ENST00000541607,;AL513165.2,non_coding_transcript_exon_variant,,ENST00000544475,;AL513165.2,intron_variant,,ENST00000541804,;FBXO10,frameshift_variant,p.Ala81HisfsTer30,ENST00000276960,;AL513165.2,3_prime_UTR_variant,,ENST00000537239,; - ENSG00000147912 ENST00000432825 Transcript frameshift_variant 287/4575 238/2871 80/956 L/X Ctt/tt 1 -1 FBXO10 HGNC HGNC:13589 protein_coding YES CCDS47966.1 ENSP00000403802 Q9UK96 UPI00001C1EC6 NM_012166.2 2/11 Gene3D:1.20.1280.50,hmmpanther:PTHR22990,Superfamily_domains:SSF81383 HIGH 1 deletion 1 PASS AAGG . . 37541530 FBXO10 . GRCh38 chr9 37541534 37541534 + Missense_Mutation SNP A A T novel 7316-393 BS_SCCY3YMQ A A c.235T>A p.Tyr79Asn p.Y79N ENST00000432825 2/11 76 62 13 31 30 0 FBXO10,missense_variant,p.Tyr79Asn,ENST00000432825,NM_012166.2;FBXO10,downstream_gene_variant,,ENST00000541607,;AL513165.2,non_coding_transcript_exon_variant,,ENST00000544475,;AL513165.2,intron_variant,,ENST00000541804,;FBXO10,missense_variant,p.Tyr79Asn,ENST00000276960,;AL513165.2,3_prime_UTR_variant,,ENST00000537239,; T ENSG00000147912 ENST00000432825 Transcript missense_variant 284/4575 235/2871 79/956 Y/N Tac/Aac 1 -1 FBXO10 HGNC HGNC:13589 protein_coding YES CCDS47966.1 ENSP00000403802 Q9UK96 UPI00001C1EC6 NM_012166.2 deleterious(0.04) benign(0.168) 2/11 Gene3D:1.20.1280.50,hmmpanther:PTHR22990,Superfamily_domains:SSF81383 MODERATE 1 SNV 1 PASS TAA . . 37541534 SHB . GRCh38 chr9 38068086 38068086 + Missense_Mutation SNP T T G rs1405092984 7316-393 BS_SCCY3YMQ T T c.560A>C p.Lys187Thr p.K187T ENST00000377707 1/6 93 76 11 36 36 0 SHB,missense_variant,p.Lys187Thr,ENST00000377707,NM_003028.2;AL138752.2,missense_variant,p.Lys187Thr,ENST00000540557,;,regulatory_region_variant,,ENSR00000234949,; G ENSG00000107338 ENST00000377707 Transcript missense_variant 1126/2783 560/1530 187/509 K/T aAa/aCa rs1405092984 1 -1 SHB HGNC HGNC:10838 protein_coding YES CCDS43806.1 ENSP00000366936 Q15464 UPI000021143B NM_003028.2 deleterious(0) probably_damaging(0.986) 1/6 hmmpanther:PTHR15127:SF31,hmmpanther:PTHR15127 MODERATE 1 SNV 1 PASS TTT . . 38068086 CNTNAP3B . GRCh38 chr9 41929326 41929326 + Missense_Mutation SNP G G A rs2935342 7316-393 BS_SCCY3YMQ G G c.2356C>T p.Arg786Cys p.R786C ENST00000377561 15/24 76 64 11 39 38 0 CNTNAP3B,missense_variant,p.Arg785Cys,ENST00000612828,;CNTNAP3B,missense_variant,p.Arg786Cys,ENST00000377561,NM_001201380.2;CNTNAP3B,missense_variant,p.Arg49Cys,ENST00000489789,;CNTNAP3B,missense_variant,p.Arg692Cys,ENST00000619138,;CNTNAP3B,3_prime_UTR_variant,,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,; A ENSG00000154529 ENST00000377561 Transcript missense_variant 2749/5379 2356/3867 786/1288 R/C Cgc/Tgc rs2935342 1 -1 CNTNAP3B HGNC HGNC:32035 protein_coding YES CCDS75836.1 ENSP00000478671 Q96NU0 UPI00043788D3 NM_001201380.2 tolerated(0.07) possibly_damaging(0.54) 15/24 hmmpanther:PTHR43925:SF6,hmmpanther:PTHR43925,Superfamily_domains:SSF49899 MODERATE 1 SNV 1 PASS CGG . . 41929326 MEGF9 . GRCh38 chr9 120714240 120714240 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.119A>C p.Asn40Thr p.N40T ENST00000373930 1/6 71 56 15 32 28 2 MEGF9,missense_variant,p.Asn40Thr,ENST00000373930,NM_001080497.2;,regulatory_region_variant,,ENSR00000240796,; G ENSG00000106780 ENST00000373930 Transcript missense_variant 231/6298 119/1809 40/602 N/T aAt/aCt 1 -1 MEGF9 HGNC HGNC:3234 protein_coding YES CCDS48010.2 ENSP00000363040 Q9H1U4 UPI000045779F NM_001080497.2 deleterious_low_confidence(0) benign(0.221) 1/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF298 MODERATE 1 SNV 2 PASS ATT . . 120714240 CEL . GRCh38 chr9 133071237 133071237 + Missense_Mutation SNP A A T rs35169970 7316-393 BS_SCCY3YMQ A A c.1744A>T p.Thr582Ser p.T582S ENST00000372080 11/11 63 47 5 34 31 0 CEL,missense_variant,p.Thr582Ser,ENST00000372080,NM_001807.4;,TF_binding_site_variant,,PB0010.1,; T ENSG00000170835 ENST00000372080 Transcript missense_variant 1760/2384 1744/2271 582/756 T/S Acc/Tcc rs35169970 1 1 CEL HGNC HGNC:1848 protein_coding YES CCDS43896.1 ENSP00000361151 X6R868 UPI000013E8C6 NM_001807.4 tolerated(0.08) benign(0) 11/11 Pfam_domain:PF16058,hmmpanther:PTHR43903,hmmpanther:PTHR43903:SF1,mobidb-lite MODERATE 1 SNV 5 1 PASS GAC . . 133071237 CAMK1D . GRCh38 chr10 12349819 12349819 + Translation_Start_Site SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.1A>C p.Met1? p.M1? ENST00000619168 1/11 93 75 10 27 27 0 CAMK1D,start_lost,p.Met1?,ENST00000619168,NM_153498.3;CAMK1D,start_lost,p.Met1?,ENST00000378845,NM_020397.3;CAMK1D,non_coding_transcript_exon_variant,,ENST00000487696,;,regulatory_region_variant,,ENSR00000024537,; C ENSG00000183049 ENST00000619168 Transcript start_lost 338/8153 1/1158 1/385 M/L Atg/Ctg 1 1 CAMK1D HGNC HGNC:19341 protein_coding YES CCDS7091.1 ENSP00000478874 Q8IU85 UPI000003CA33 NM_153498.3 deleterious_low_confidence(0.04) benign(0.267) 1/11 hmmpanther:PTHR24347:SF252,hmmpanther:PTHR24347,Gene3D:3.30.200.20 HIGH 1 SNV 1 PASS CAT . . 12349819 ZNF25 . GRCh38 chr10 37952242 37952242 + Missense_Mutation SNP T T G rs1288557586 7316-393 BS_SCCY3YMQ T T c.1256A>C p.Lys419Thr p.K419T ENST00000302609 6/6 67 59 6 41 41 0 ZNF25,missense_variant,p.Lys419Thr,ENST00000302609,NM_145011.2,NM_001329652.1,NM_001329657.1,NM_001329649.1,NM_001329654.1,NM_001329648.1,NM_001329655.1,NM_001329651.1,NM_001329659.1;ZNF25,non_coding_transcript_exon_variant,,ENST00000374633,;ZNF25,downstream_gene_variant,,ENST00000467975,; G ENSG00000175395 ENST00000302609 Transcript missense_variant 1469/4139 1256/1371 419/456 K/T aAa/aCa rs1288557586 1 -1 ZNF25 HGNC HGNC:13043 protein_coding YES CCDS7195.1 ENSP00000302222 P17030 UPI0000071FFD NM_145011.2,NM_001329652.1,NM_001329657.1,NM_001329649.1,NM_001329654.1,NM_001329648.1,NM_001329655.1,NM_001329651.1,NM_001329659.1 tolerated(0.26) benign(0.007) 6/6 PROSITE_profiles:PS50157,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTT . . 37952242 SLC18A3 . GRCh38 chr10 49610746 49610746 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.6A>C p.Glu2Asp p.E2D ENST00000374115 1/1 98 84 11 44 43 1 SLC18A3,missense_variant,p.Glu2Asp,ENST00000374115,NM_003055.2;CHAT,intron_variant,,ENST00000339797,NM_020984.3;CHAT,upstream_gene_variant,,ENST00000337653,NM_020549.4;CHAT,upstream_gene_variant,,ENST00000351556,NM_001142929.1,NM_001142934.1,NM_020985.3;CHAT,upstream_gene_variant,,ENST00000395559,NM_020986.3;CHAT,upstream_gene_variant,,ENST00000395562,NM_001142933.1;CHAT,upstream_gene_variant,,ENST00000460699,;CHAT,upstream_gene_variant,,ENST00000481336,;CHAT,upstream_gene_variant,,ENST00000466590,;,regulatory_region_variant,,ENSR00000027914,; C ENSG00000187714 ENST00000374115 Transcript missense_variant 446/2420 6/1599 2/532 E/D gaA/gaC 1 1 SLC18A3 HGNC HGNC:10936 protein_coding YES CCDS7231.1 ENSP00000363229 Q16572 UPI00001F98C1 NM_003055.2 tolerated_low_confidence(0.43) benign(0.074) 1/1 MODERATE SNV 1 PASS AAT . . 49610746 NANOS1 . GRCh38 chr10 119030066 119030066 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.265A>C p.Thr89Pro p.T89P ENST00000425699 1/1 45 29 10 37 36 0 NANOS1,missense_variant,p.Thr89Pro,ENST00000425699,NM_199461.3;NANOS1,upstream_gene_variant,,ENST00000340087,;EIF3A,downstream_gene_variant,,ENST00000369144,NM_003750.2;,regulatory_region_variant,,ENSR00000034198,; C ENSG00000188613 ENST00000425699 Transcript missense_variant 351/4017 265/879 89/292 T/P Acg/Ccg 1 1 NANOS1 HGNC HGNC:23044 protein_coding YES CCDS7607.1 ENSP00000393275 Q8WY41 UPI00001D68E9 NM_199461.3 tolerated(0.11) benign(0) 1/1 hmmpanther:PTHR12887,hmmpanther:PTHR12887:SF6,mobidb-lite MODERATE SNV 1 PASS CAC . . 119030066 INPP5A . GRCh38 chr10 132538107 132538107 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.11A>C p.Lys4Thr p.K4T ENST00000368594 1/16 30 19 8 19 19 0 INPP5A,missense_variant,p.Lys4Thr,ENST00000368594,NM_001321042.1,NM_005539.4;INPP5A,missense_variant,p.Lys4Thr,ENST00000368593,;INPP5A,upstream_gene_variant,,ENST00000423490,;,regulatory_region_variant,,ENSR00000035426,; C ENSG00000068383 ENST00000368594 Transcript missense_variant 288/2967 11/1239 4/412 K/T aAg/aCg 1 1 INPP5A HGNC HGNC:6076 protein_coding YES CCDS7669.2 ENSP00000357583 Q14642 UPI000012D085 NM_001321042.1,NM_005539.4 tolerated(0.07) benign(0.003) 1/16 MODERATE 1 SNV 1 PASS AAG . . 132538107 CDHR5 . GRCh38 chr11 618710 618710 + Missense_Mutation SNP T T A 7316-393 BS_SCCY3YMQ T T c.1849A>T p.Met617Leu p.M617L ENST00000358353 14/16 66 53 7 24 21 0 CDHR5,missense_variant,p.Met617Leu,ENST00000358353,;CDHR5,missense_variant,p.Met617Leu,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;IRF7,upstream_gene_variant,,ENST00000528413,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; A ENSG00000099834 ENST00000358353 Transcript missense_variant 2172/3635 1849/2538 617/845 M/L Atg/Ttg COSM3869725 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(0.7) benign(0) 14/16 mobidb-lite,hmmpanther:PTHR45160 1 MODERATE SNV 5 1 PASS ATA . . 618710 AHNAK . GRCh38 chr11 62522646 62522646 + Missense_Mutation SNP C C T rs142578457 7316-393 BS_SCCY3YMQ C C c.11771G>A p.Arg3924Gln p.R3924Q ENST00000378024 5/5 72 59 6 40 40 0 AHNAK,missense_variant,p.Arg3924Gln,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 12046/18787 11771/17673 3924/5890 R/Q cGa/cAa rs142578457,COSM6289522,COSM6289521 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.54) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS TCG . . 0.0003531 0.0001402 0.0004824 4.507e-05 0.0001199 0.001812 62522646 PELI3 . GRCh38 chr11 66475877 66475877 + Missense_Mutation SNP C C T rs756980318 7316-393 BS_SCCY3YMQ C C c.1120C>T p.Arg374Trp p.R374W ENST00000320740 8/8 92 80 11 46 46 0 PELI3,missense_variant,p.Arg350Trp,ENST00000349459,NM_001098510.1;PELI3,missense_variant,p.Arg374Trp,ENST00000320740,NM_145065.2;PELI3,missense_variant,p.Arg311Trp,ENST00000618547,NM_001243135.1;PELI3,3_prime_UTR_variant,,ENST00000528752,;PELI3,downstream_gene_variant,,ENST00000524466,;PELI3,downstream_gene_variant,,ENST00000526296,NM_001243136.1;DPP3,upstream_gene_variant,,ENST00000526515,;PELI3,downstream_gene_variant,,ENST00000527230,;DPP3,upstream_gene_variant,,ENST00000530165,NM_001256670.1;DPP3,upstream_gene_variant,,ENST00000531314,;DPP3,upstream_gene_variant,,ENST00000531863,;DPP3,upstream_gene_variant,,ENST00000532019,;DPP3,upstream_gene_variant,,ENST00000532677,;DPP3,upstream_gene_variant,,ENST00000533725,;DPP3,upstream_gene_variant,,ENST00000541961,NM_130443.3,NM_005700.4;AP002748.3,intron_variant,,ENST00000527092,;AP002748.3,intron_variant,,ENST00000533502,;AP002748.3,downstream_gene_variant,,ENST00000525142,;AP002748.3,downstream_gene_variant,,ENST00000527274,;AP002748.3,upstream_gene_variant,,ENST00000602951,;PELI3,non_coding_transcript_exon_variant,,ENST00000531856,;DPP3,upstream_gene_variant,,ENST00000531272,;DPP3,upstream_gene_variant,,ENST00000544603,;PELI3,3_prime_UTR_variant,,ENST00000532970,; T ENSG00000174516 ENST00000320740 Transcript missense_variant 1280/2740 1120/1410 374/469 R/W Cgg/Tgg rs756980318,COSM4427559 1 1 PELI3 HGNC HGNC:30010 protein_coding YES CCDS31615.1 ENSP00000322532 Q8N2H9 A0A024R5B1 UPI00000707EF NM_145065.2 deleterious(0) probably_damaging(0.992) 8/8 Gene3D:3.30.40.10,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886,hmmpanther:PTHR12098,hmmpanther:PTHR12098:SF9 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 4.488e-06 1.029e-05 66475877 MAP6 . GRCh38 chr11 75668089 75668089 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.281A>C p.Glu94Ala p.E94A ENST00000304771 1/4 69 50 9 24 24 0 MAP6,missense_variant,p.Glu94Ala,ENST00000434603,NM_207577.1;MAP6,missense_variant,p.Glu94Ala,ENST00000304771,NM_033063.1;MAP6,intron_variant,,ENST00000526740,;,regulatory_region_variant,,ENSR00000042185,; G ENSG00000171533 ENST00000304771 Transcript missense_variant 1032/3334 281/2442 94/813 E/A gAg/gCg 1 -1 MAP6 HGNC HGNC:6868 protein_coding YES CCDS31641.1 ENSP00000307093 Q96JE9 UPI0000251E6A NM_033063.1 tolerated_low_confidence(0.17) probably_damaging(0.977) 1/4 hmmpanther:PTHR14759,hmmpanther:PTHR14759:SF2,mobidb-lite MODERATE 1 SNV 1 PASS CTC . . 75668089 C2CD2L . GRCh38 chr11 119107906 119107906 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.165A>C p.Glu55Asp p.E55D ENST00000336702 1/14 86 67 14 35 35 0 C2CD2L,missense_variant,p.Glu55Asp,ENST00000336702,NM_001290474.1,NM_014807.4;DPAGT1,5_prime_UTR_variant,,ENST00000409993,;C2CD2L,upstream_gene_variant,,ENST00000528586,;C2CD2L,downstream_gene_variant,,ENST00000527854,;C2CD2L,downstream_gene_variant,,ENST00000528271,;C2CD2L,downstream_gene_variant,,ENST00000529600,;C2CD2L,downstream_gene_variant,,ENST00000529885,;C2CD2L,downstream_gene_variant,,ENST00000534024,;C2CD2L,upstream_gene_variant,,ENST00000525598,;C2CD2L,upstream_gene_variant,,ENST00000529874,;C2CD2L,upstream_gene_variant,,ENST00000533458,;,regulatory_region_variant,,ENSR00000045727,; C ENSG00000172375 ENST00000336702 Transcript missense_variant 524/4771 165/2124 55/707 E/D gaA/gaC 1 1 C2CD2L HGNC HGNC:29000 protein_coding YES CCDS8413.1 ENSP00000338885 O14523 UPI0000192105 NM_001290474.1,NM_014807.4 tolerated(0.33) benign(0.025) 1/14 hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF8,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 119107906 ADAMTS8 . GRCh38 chr11 130428219 130428219 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.68T>G p.Leu23Arg p.L23R ENST00000257359 1/9 100 84 12 40 38 1 ADAMTS8,missense_variant,p.Leu23Arg,ENST00000257359,NM_007037.5;,regulatory_region_variant,,ENSR00000047103,; C ENSG00000134917 ENST00000257359 Transcript missense_variant 775/4010 68/2670 23/889 L/R cTg/cGg 1 -1 ADAMTS8 HGNC HGNC:224 protein_coding YES CCDS41732.1 ENSP00000257359 Q9UP79 UPI000013CF5D NM_007037.5 tolerated(0.34) benign(0.103) 1/9 hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 130428219 CDCA3 . GRCh38 chr12 6850517 6850517 + Missense_Mutation SNP C C T rs200589400 7316-393 BS_SCCY3YMQ C C c.200G>A p.Arg67His p.R67H ENST00000538862 3/6 79 64 14 36 34 0 CDCA3,missense_variant,p.Arg67His,ENST00000422785,NM_001297603.1;CDCA3,missense_variant,p.Arg67His,ENST00000538862,NM_031299.5;CDCA3,missense_variant,p.Arg67His,ENST00000535406,;CDCA3,missense_variant,p.Arg67His,ENST00000229265,NM_001297602.1;CDCA3,missense_variant,p.Arg67His,ENST00000540683,NM_001297604.1;GNB3,downstream_gene_variant,,ENST00000229264,NM_002075.3;USP5,upstream_gene_variant,,ENST00000229268,NM_001098536.1;USP5,upstream_gene_variant,,ENST00000389231,NM_003481.2;GNB3,downstream_gene_variant,,ENST00000435982,NM_001297571.1;GNB3,downstream_gene_variant,,ENST00000537035,;USP5,upstream_gene_variant,,ENST00000542087,;CDCA3,non_coding_transcript_exon_variant,,ENST00000545368,;CDCA3,upstream_gene_variant,,ENST00000535871,;CDCA3,upstream_gene_variant,,ENST00000544610,;CDCA3,upstream_gene_variant,,ENST00000603043,;CDCA3,upstream_gene_variant,,ENST00000604599,;CDCA3,non_coding_transcript_exon_variant,,ENST00000536241,;CDCA3,non_coding_transcript_exon_variant,,ENST00000446553,;GNB3,downstream_gene_variant,,ENST00000540458,;GNB3,downstream_gene_variant,,ENST00000542751,; T ENSG00000111665 ENST00000538862 Transcript missense_variant 1102/1943 200/807 67/268 R/H cGc/cAc rs200589400 1 -1 CDCA3 HGNC HGNC:14624 protein_coding YES CCDS8565.1 ENSP00000442068 Q99618 UPI000006F098 NM_031299.5 tolerated(0.09) benign(0.062) 3/6 hmmpanther:PTHR34756,mobidb-lite MODERATE 1 SNV 1 PASS GCG . . 6850517 APOLD1 . GRCh38 chr12 12786912 12786912 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.100A>C p.Met34Leu p.M34L ENST00000326765 2/2 86 70 15 30 30 0 APOLD1,missense_variant,p.Met34Leu,ENST00000326765,NM_001130415.1;APOLD1,missense_variant,p.Met3Leu,ENST00000356591,NM_030817.2;APOLD1,intron_variant,,ENST00000534843,;APOLD1,intron_variant,,ENST00000540583,;APOLD1,intron_variant,,ENST00000588943,;,regulatory_region_variant,,ENSR00000048986,; C ENSG00000178878 ENST00000326765 Transcript missense_variant 170/4724 100/840 34/279 M/L Atg/Ctg 1 1 APOLD1 HGNC HGNC:25268 protein_coding YES CCDS44833.1 ENSP00000324277 Q96LR9 UPI0000D4A841 NM_001130415.1 deleterious(0.03) benign(0.011) 2/2 hmmpanther:PTHR14096:SF1,hmmpanther:PTHR14096 MODERATE 1 SNV 1 PASS AAT . . 12786912 DTX1 . GRCh38 chr12 113077816 113077816 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.652A>C p.Ile218Leu p.I218L ENST00000257600 2/9 54 46 7 32 30 0 DTX1,missense_variant,p.Ile218Leu,ENST00000257600,NM_004416.2;,regulatory_region_variant,,ENSR00000057574,; C ENSG00000135144 ENST00000257600 Transcript missense_variant 1155/3455 652/1863 218/620 I/L Atc/Ctc 1 1 DTX1 HGNC HGNC:3060 protein_coding YES CCDS9164.1 ENSP00000257600 Q86Y01 UPI000013CF71 NM_004416.2 tolerated(0.27) benign(0.233) 2/9 hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF7 MODERATE 1 SNV 1 PASS CAT . . 113077816 CARS2 . GRCh38 chr13 110705898 110705898 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.196A>C p.Ile66Leu p.I66L ENST00000257347 1/15 73 63 7 26 25 1 CARS2,missense_variant,p.Ile66Leu,ENST00000257347,NM_024537.3;CARS2,upstream_gene_variant,,ENST00000542709,;CARS2,intron_variant,,ENST00000465145,;CARS2,intron_variant,,ENST00000485188,;CARS2,intron_variant,,ENST00000535398,;CARS2,intron_variant,,ENST00000537412,;CARS2,intron_variant,,ENST00000540629,;CARS2,intron_variant,,ENST00000541443,;CARS2,intron_variant,,ENST00000542126,;CARS2,intron_variant,,ENST00000544488,;CARS2,missense_variant,p.Ile53Leu,ENST00000539269,;CARS2,missense_variant,p.Ile66Leu,ENST00000537394,;CARS2,upstream_gene_variant,,ENST00000540785,;,regulatory_region_variant,,ENSR00000065888,; G ENSG00000134905 ENST00000257347 Transcript missense_variant 260/1879 196/1695 66/564 I/L Atc/Ctc 1 -1 CARS2 HGNC HGNC:25695 protein_coding YES CCDS9514.1 ENSP00000257347 Q9HA77 UPI0000046055 NM_024537.3 deleterious(0.05) benign(0.124) 1/15 Gene3D:3.40.50.620,HAMAP:MF_00041,hmmpanther:PTHR10890,hmmpanther:PTHR10890:SF9,Superfamily_domains:SSF52374,TIGRFAM_domain:TIGR00435,cd00672 MODERATE 1 SNV 1 1 PASS ATT . . 110705898 ANKRD10 . GRCh38 chr13 110914765 110914765 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.170A>C p.Tyr57Ser p.Y57S ENST00000267339 1/6 83 72 10 41 41 0 ANKRD10,missense_variant,p.Tyr57Ser,ENST00000267339,NM_017664.3;ANKRD10,missense_variant,p.Tyr57Ser,ENST00000310847,NM_001286721.1;AL442128.2,upstream_gene_variant,,ENST00000620246,;ANKRD10,non_coding_transcript_exon_variant,,ENST00000460846,;ANKRD10,upstream_gene_variant,,ENST00000489973,;ANKRD10,upstream_gene_variant,,ENST00000494859,;ANKRD10,missense_variant,p.Tyr57Ser,ENST00000465753,;,regulatory_region_variant,,ENSR00000065909,; G ENSG00000088448 ENST00000267339 Transcript missense_variant 305/2495 170/1263 57/420 Y/S tAt/tCt 1 -1 ANKRD10 HGNC HGNC:20265 protein_coding YES CCDS9520.1 ENSP00000267339 Q9NXR5 A0A024RE01 UPI000013D744 NM_017664.3 deleterious(0) possibly_damaging(0.883) 1/6 Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24203,hmmpanther:PTHR24203:SF14,SMART_domains:SM00248,Superfamily_domains:SSF48403,cd00204 MODERATE 1 SNV 2 PASS ATA . . 110914765 NPAS3 . GRCh38 chr14 33800592 33800592 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.2285A>C p.Asn762Thr p.N762T ENST00000356141 12/12 59 44 13 28 28 0 NPAS3,missense_variant,p.Asn730Thr,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Asn732Thr,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Asn767Thr,ENST00000551492,;NPAS3,missense_variant,p.Asn762Thr,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Asn749Thr,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Asn736Thr,ENST00000551634,; C ENSG00000151322 ENST00000356141 Transcript missense_variant 2285/2802 2285/2802 762/933 N/T aAc/aCc 1 1 NPAS3 HGNC HGNC:19311 protein_coding YES CCDS53891.1 ENSP00000348460 Q8IXF0 X5D2Q4 UPI00000743C2 NM_001164749.1 tolerated_low_confidence(1) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF30 MODERATE 1 SNV 1 PASS AAC . . 33800592 FAM177A1 . GRCh38 chr14 35046616 35046616 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.153A>C p.Glu51Asp p.E51D ENST00000280987 1/5 87 76 8 43 42 0 FAM177A1,missense_variant,p.Glu28Asp,ENST00000396472,NM_001079519.1;FAM177A1,missense_variant,p.Glu51Asp,ENST00000280987,NM_173607.3;FAM177A1,missense_variant,p.Glu28Asp,ENST00000382406,NM_001289022.1;FAM177A1,missense_variant,p.Glu51Asp,ENST00000554052,;FAM177A1,missense_variant,p.Glu28Asp,ENST00000555211,;FAM177A1,missense_variant,p.Glu5Asp,ENST00000556858,;FAM177A1,missense_variant,p.Glu8Asp,ENST00000553852,;FAM177A1,upstream_gene_variant,,ENST00000553955,;,regulatory_region_variant,,ENSR00000067618,; C ENSG00000151327 ENST00000280987 Transcript missense_variant 214/2927 153/711 51/236 E/D gaA/gaC 1 1 FAM177A1 HGNC HGNC:19829 protein_coding YES CCDS9653.2 ENSP00000280987 Q8N128 UPI00005A8F3C NM_173607.3 tolerated_low_confidence(0.38) benign(0.003) 1/5 Low_complexity_(Seg):seg,hmmpanther:PTHR31206:SF5,hmmpanther:PTHR31206 MODERATE 1 SNV 1 PASS AAT . . 35046616 GPR135 . GRCh38 chr14 59465066 59465066 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.161A>C p.Asn54Thr p.N54T ENST00000395116 1/1 85 70 13 49 48 0 GPR135,missense_variant,p.Asn54Thr,ENST00000395116,NM_022571.5;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,missense_variant,p.Asn54Thr,ENST00000481661,;,regulatory_region_variant,,ENSR00000069182,; G ENSG00000181619 ENST00000395116 Transcript missense_variant 277/4578 161/1485 54/494 N/T aAc/aCc 1 -1 GPR135 HGNC HGNC:19991 protein_coding YES CCDS9738.1 ENSP00000378548 Q8IZ08 UPI0000046D5B NM_022571.5 tolerated_low_confidence(0.07) benign(0.001) 1/1 hmmpanther:PTHR22752:SF3,hmmpanther:PTHR22752 MODERATE 1 SNV PASS GTT . . 59465066 ELMSAN1 . GRCh38 chr14 73739078 73739078 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.931T>G p.Phe311Val p.F311V ENST00000286523 2/12 66 43 17 35 35 0 ELMSAN1,missense_variant,p.Phe311Val,ENST00000286523,NM_194278.3;ELMSAN1,missense_variant,p.Phe311Val,ENST00000394071,NM_001043318.2;ELMSAN1,missense_variant,p.Phe311Val,ENST00000435371,;ELMSAN1,missense_variant,p.Phe311Val,ENST00000423556,;ELMSAN1,downstream_gene_variant,,ENST00000421708,;ELMSAN1,downstream_gene_variant,,ENST00000486739,;ELMSAN1,missense_variant,p.Phe133Val,ENST00000451078,; C ENSG00000156030 ENST00000286523 Transcript missense_variant 1714/8091 931/3138 311/1045 F/V Ttc/Gtc 1 -1 ELMSAN1 HGNC HGNC:19853 protein_coding YES CCDS9819.1 ENSP00000286523 Q6PJG2 A0A024R689 UPI00001FD815 NM_194278.3 deleterious(0.04) benign(0.23) 2/12 Low_complexity_(Seg):seg,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF24,Gene3D:1.10.565.10 MODERATE 1 SNV 1 PASS AAG . . 73739078 SLC25A29 . GRCh38 chr14 100306196 100306196 + Splice_Region SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.34+3A>C ENST00000359232 56 45 9 52 51 0 SLC25A29,splice_region_variant,,ENST00000359232,NM_001039355.2;SLC25A29,splice_region_variant,,ENST00000392908,;SLC25A29,splice_region_variant,,ENST00000554060,;MIR345,upstream_gene_variant,,ENST00000362114,;SLC25A29,splice_region_variant,,ENST00000553359,;SLC25A29,splice_region_variant,,ENST00000555949,;SLC25A29,splice_region_variant,,ENST00000556844,;SLC25A29,upstream_gene_variant,,ENST00000556201,;SLC25A29,splice_region_variant,,ENST00000554224,;SLC25A29,splice_region_variant,,ENST00000556715,;SLC25A29,splice_region_variant,,ENST00000556868,;SLC25A29,splice_region_variant,,ENST00000557438,;,regulatory_region_variant,,ENSR00000073112,; G ENSG00000197119 ENST00000359232 Transcript splice_region_variant,intron_variant 1 -1 SLC25A29 HGNC HGNC:20116 protein_coding YES CCDS32156.1 ENSP00000352167 Q8N8R3 UPI0000141339 NM_001039355.2 1/3 LOW 1 SNV 1 PASS TTA . . 100306196 AHNAK2 . GRCh38 chr14 104948834 104948834 + Missense_Mutation SNP A A G rs201552064 7316-393 BS_SCCY3YMQ A A c.6617T>C p.Leu2206Pro p.L2206P ENST00000333244 7/7 70 57 5 35 34 0 AHNAK2,missense_variant,p.Leu2206Pro,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 6737/18254 6617/17388 2206/5795 L/P cTt/cCt rs201552064,COSM2027118 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0.001) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0,1 MODERATE 1 SNV 5 0,1 PASS AAG . . 0.0005666 0.005489 0.000801 0.0004101 0.0003736 0.0001175 0.0009346 0.0002342 104948834 AHNAK2 . GRCh38 chr14 104952461 104952461 + Missense_Mutation SNP T T C rs200638785 7316-393 BS_SCCY3YMQ T T c.2990A>G p.Lys997Arg p.K997R ENST00000333244 7/7 55 47 6 39 38 0 AHNAK2,missense_variant,p.Lys997Arg,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; C ENSG00000185567 ENST00000333244 Transcript missense_variant 3110/18254 2990/17388 997/5795 K/R aAg/aGg rs200638785,COSM1726495 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.09) benign(0.027) 7/7 Low_complexity_(Seg):seg,hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0,1 MODERATE 1 SNV 5 0,1 PASS CTT . . 0.0004014 0.001682 0.0003944 0.0005154 0.0003347 3.622e-05 0.0003755 0.001474 104952461 BTBD6 . GRCh38 chr14 105248967 105248967 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.97A>C p.Ser33Arg p.S33R ENST00000392554 1/4 70 55 9 35 35 0 BTBD6,missense_variant,p.Ser33Arg,ENST00000392554,NM_033271.2;BTBD6,missense_variant,p.Ser33Arg,ENST00000536364,;BTBD6,missense_variant,p.Ser33Arg,ENST00000537513,;BTBD6,5_prime_UTR_variant,,ENST00000463376,;BRF1,intron_variant,,ENST00000327359,NM_001242787.1;BTBD6,intron_variant,,ENST00000327471,;BRF1,intron_variant,,ENST00000379937,NM_001242788.1;BRF1,intron_variant,,ENST00000440513,NM_001242786.1;BRF1,intron_variant,,ENST00000446501,NM_001242789.1;BRF1,intron_variant,,ENST00000546417,;BRF1,intron_variant,,ENST00000547530,NM_001519.3;BRF1,intron_variant,,ENST00000552127,;BRF1,intron_variant,,ENST00000619151,;BRF1,upstream_gene_variant,,ENST00000379932,;BRF1,upstream_gene_variant,,ENST00000392557,NM_145685.2;BRF1,upstream_gene_variant,,ENST00000550208,;BRF1,upstream_gene_variant,,ENST00000550375,;BRF1,downstream_gene_variant,,ENST00000550692,;BRF1,upstream_gene_variant,,ENST00000551787,;BTBD6,upstream_gene_variant,,ENST00000392553,;,regulatory_region_variant,,ENSR00000073786,; C ENSG00000184887 ENST00000392554 Transcript missense_variant 394/2176 97/1458 33/485 S/R Agc/Cgc 1 1 BTBD6 HGNC HGNC:19897 protein_coding YES CCDS10002.2 ENSP00000376337 Q96KE9 UPI00001FDD27 NM_033271.2 tolerated(0.52) benign(0) 1/4 hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 105248967 KLF13 . GRCh38 chr15 31327544 31327544 + Missense_Mutation SNP A A G novel 7316-393 BS_SCCY3YMQ A A c.332A>G p.Glu111Gly p.E111G ENST00000307145 1/2 69 44 9 37 36 0 KLF13,missense_variant,p.Glu111Gly,ENST00000307145,NM_015995.3;KLF13,upstream_gene_variant,,ENST00000558921,;,regulatory_region_variant,,ENSR00000074488,; G ENSG00000169926 ENST00000307145 Transcript missense_variant 690/6825 332/867 111/288 E/G gAa/gGa 1 1 KLF13 HGNC HGNC:13672 protein_coding YES CCDS10025.1 ENSP00000302456 Q9Y2Y9 X5DNR2 UPI000012DEDC NM_015995.3 tolerated(0.22) benign(0) 1/2 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GAA . . 31327544 CHST14 . GRCh38 chr15 40471217 40471217 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.4T>G p.Phe2Val p.F2V ENST00000306243 1/1 62 42 14 32 31 0 CHST14,missense_variant,p.Phe2Val,ENST00000306243,NM_130468.3;CHST14,missense_variant,p.Phe2Val,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000416165,NM_014952.4;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000561234,NM_001301132.1;AC013356.2,upstream_gene_variant,,ENST00000559730,;,regulatory_region_variant,,ENSR00000075526,; G ENSG00000169105 ENST00000306243 Transcript missense_variant 220/3574 4/1131 2/376 F/V Ttc/Gtc 1 1 CHST14 HGNC HGNC:24464 protein_coding YES CCDS10059.1 ENSP00000307297 Q8NCH0 UPI000004616D NM_130468.3 deleterious_low_confidence(0.02) benign(0) 1/1 MODERATE SNV 1 PASS GTT . . 40471217 NPTN . GRCh38 chr15 73633127 73633127 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.89A>C p.Asn30Thr p.N30T ENST00000345330 1/9 92 74 8 37 37 0 NPTN,missense_variant,p.Asn30Thr,ENST00000351217,NM_017455.3;NPTN,missense_variant,p.Asn30Thr,ENST00000345330,NM_012428.3;NPTN,missense_variant,p.Asn30Thr,ENST00000563691,NM_001161363.1;NPTN,missense_variant,p.Asn30Thr,ENST00000562924,NM_001161364.1;NPTN,missense_variant,p.Asn30Thr,ENST00000565325,;NPTN,upstream_gene_variant,,ENST00000565282,;NPTN,upstream_gene_variant,,ENST00000567198,;NPTN,splice_region_variant,,ENST00000564551,;NPTN,splice_region_variant,,ENST00000563753,;,regulatory_region_variant,,ENSR00000079121,; G ENSG00000156642 ENST00000345330 Transcript missense_variant,splice_region_variant 287/2444 89/1197 30/398 N/T aAc/aCc 1 -1 NPTN HGNC HGNC:17867 protein_coding YES CCDS10249.1 ENSP00000290401 Q9Y639 UPI0000072D5C NM_012428.3 tolerated(1) benign(0.025) 1/9 PROSITE_profiles:PS50835,hmmpanther:PTHR10075:SF5,hmmpanther:PTHR10075,PIRSF_domain:PIRSF000615,Gene3D:2.60.40.10 MODERATE 1 SNV 1 PASS GTT . . 73633127 ANKRD34C . GRCh38 chr15 79294012 79294012 + Missense_Mutation SNP G G A rs547448670 7316-393 BS_SCCY3YMQ G G c.728G>A p.Arg243His p.R243H ENST00000421388 1/1 71 50 19 33 32 0 ANKRD34C,missense_variant,p.Arg243His,ENST00000421388,NM_001146341.1; A ENSG00000235711 ENST00000421388 Transcript missense_variant 728/4951 728/1608 243/535 R/H cGt/cAt rs547448670 1 1 ANKRD34C HGNC HGNC:33888 protein_coding YES CCDS53965.1 ENSP00000401089 P0C6C1 UPI0000160A7F NM_001146341.1 tolerated(0.11) benign(0.027) 1/1 hmmpanther:PTHR24156,hmmpanther:PTHR24156:SF5 MODERATE 1 SNV PASS CGT . . 7.446e-05 0.0001347 0.0001329 0.0001244 4.383e-05 79294012 WHAMM . GRCh38 chr15 82809907 82809907 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.181T>G p.Leu61Val p.L61V ENST00000286760 1/10 94 82 10 32 30 1 WHAMM,missense_variant,p.Leu61Val,ENST00000286760,NM_001080435.2;FSD2,upstream_gene_variant,,ENST00000334574,NM_001007122.3;FSD2,upstream_gene_variant,,ENST00000541889,NM_001281805.1,NM_001281806.1;FSD2,upstream_gene_variant,,ENST00000561368,;,regulatory_region_variant,,ENSR00000080243,; G ENSG00000156232 ENST00000286760 Transcript missense_variant 280/5101 181/2430 61/809 L/V Ttg/Gtg 1 1 WHAMM HGNC HGNC:30493 protein_coding YES CCDS45333.1 ENSP00000286760 Q8TF30 UPI00001C1F94 NM_001080435.2 tolerated(0.37) benign(0.001) 1/10 hmmpanther:PTHR23330,hmmpanther:PTHR23330:SF6 MODERATE 1 SNV 1 PASS GTT . . 82809907 ACAN . GRCh38 chr15 88855507 88855507 + Missense_Mutation SNP T T A novel 7316-393 BS_SCCY3YMQ T T c.2922T>A p.Ser974Arg p.S974R ENST00000439576 12/18 95 78 8 55 52 0 ACAN,missense_variant,p.Ser974Arg,ENST00000560601,;ACAN,missense_variant,p.Ser974Arg,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Ser974Arg,ENST00000617301,;ACAN,missense_variant,p.Ser974Arg,ENST00000559004,;ACAN,missense_variant,p.Ser974Arg,ENST00000561243,;ACAN,missense_variant,p.Ser974Arg,ENST00000352105,NM_001135.3;ACAN,downstream_gene_variant,,ENST00000558207,;,regulatory_region_variant,,ENSR00000278890,; A ENSG00000157766 ENST00000439576 Transcript missense_variant 3296/8840 2922/7593 974/2530 S/R agT/agA 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 deleterious(0) probably_damaging(0.953) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42,mobidb-lite MODERATE 1 SNV 5 1 PASS GTG . . 88855507 CACNA1H . GRCh38 chr16 1209305 1209305 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.3637A>C p.Lys1213Gln p.K1213Q ENST00000348261 17/35 75 60 13 32 30 1 CACNA1H,missense_variant,p.Lys1213Gln,ENST00000348261,NM_021098.2;CACNA1H,missense_variant,p.Lys1213Gln,ENST00000358590,NM_001005407.1;CACNA1H,missense_variant,p.Lys1200Gln,ENST00000638323,;CACNA1H,missense_variant,p.Lys1213Gln,ENST00000565831,;CACNA1H,upstream_gene_variant,,ENST00000562079,;CACNA1H,upstream_gene_variant,,ENST00000564231,;CACNA1H,upstream_gene_variant,,ENST00000569107,;AC120498.6,upstream_gene_variant,,ENST00000564700,;CACNA1H,missense_variant,p.Lys1213Gln,ENST00000639478,;CACNA1H,3_prime_UTR_variant,,ENST00000640028,;CACNA1H,upstream_gene_variant,,ENST00000569953,;CACNA1H,upstream_gene_variant,,ENST00000637236,; C ENSG00000196557 ENST00000348261 Transcript missense_variant 4005/8208 3637/7062 1213/2353 K/Q Aag/Cag 1 1 CACNA1H HGNC HGNC:1395 protein_coding YES CCDS45375.1 ENSP00000334198 O95180 UPI000012727B NM_021098.2 tolerated(0.28) possibly_damaging(0.543) 17/35 mobidb-lite,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192 MODERATE 1 SNV 1 1 PASS CAA . . 1209305 ST8SIA5 . GRCh38 chr18 46756475 46756475 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.34T>G p.Leu12Val p.L12V ENST00000538168 1/8 79 69 9 42 42 0 ST8SIA5,missense_variant,p.Leu12Val,ENST00000538168,NM_001307986.1;ST8SIA5,missense_variant,p.Leu12Val,ENST00000315087,NM_013305.5;ST8SIA5,missense_variant,p.Leu12Val,ENST00000536490,NM_001307987.1;AC090241.2,upstream_gene_variant,,ENST00000602329,;AC090241.2,upstream_gene_variant,,ENST00000602333,;AC090241.2,upstream_gene_variant,,ENST00000624895,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000588155,;ST8SIA5,intron_variant,,ENST00000590488,;ST8SIA5,intron_variant,,ENST00000591375,;,regulatory_region_variant,,ENSR00000102929,; C ENSG00000101638 ENST00000538168 Transcript missense_variant 335/13761 34/1239 12/412 L/V Ttg/Gtg 1 -1 ST8SIA5 HGNC HGNC:17827 protein_coding YES CCDS77184.1 ENSP00000445492 O15466 UPI0000E03E3B NM_001307986.1 benign(0.327) 1/8 Transmembrane_helices:TMhelix,hmmpanther:PTHR11987:SF4,hmmpanther:PTHR11987,PIRSF_domain:PIRSF005557 MODERATE 1 SNV 2 PASS AAA . . 46756475 PIK3R2 . GRCh38 chr19 18161429 18161429 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.749T>G p.Phe250Cys p.F250C ENST00000222254 6/16 63 52 11 31 31 0 PIK3R2,missense_variant,p.Phe250Cys,ENST00000222254,NM_005027.3;PIK3R2,missense_variant,p.Phe250Cys,ENST00000617130,;PIK3R2,missense_variant,p.Phe250Cys,ENST00000617642,;AC007192.1,missense_variant,p.Phe250Cys,ENST00000593731,;PIK3R2,missense_variant,p.Phe250Cys,ENST00000426902,;PIK3R2,non_coding_transcript_exon_variant,,ENST00000474310,;PIK3R2,upstream_gene_variant,,ENST00000464016,;PIK3R2,upstream_gene_variant,,ENST00000600533,;,regulatory_region_variant,,ENSR00000108023,;,TF_binding_site_variant,,MA0139.1,;,TF_binding_site_variant,,MA0531.1,; G ENSG00000105647 ENST00000222254 Transcript missense_variant 1349/4033 749/2187 250/728 F/C tTt/tGt 1 1 PIK3R2 HGNC HGNC:8980 protein_coding YES CCDS12371.1 ENSP00000222254 O00459 UPI000006EF95 NM_005027.3 deleterious(0) possibly_damaging(0.87) 6/16 PDB-ENSP_mappings:2xs6.A,PROSITE_profiles:PS50238,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF1,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350 MODERATE 1 SNV 1 1 PASS TTT . . 18161429 ZNF257 . GRCh38 chr19 22088964 22088964 + Missense_Mutation SNP A A T novel 7316-393 BS_SCCY3YMQ A A c.1214A>T p.Tyr405Phe p.Y405F ENST00000594947 4/4 53 41 6 48 47 0 ZNF257,missense_variant,p.Tyr405Phe,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; T ENSG00000197134 ENST00000594947 Transcript missense_variant 1358/3874 1214/1692 405/563 Y/F tAt/tTt 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 deleterious(0) benign(0.105) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS TAT . . 22088964 MAP3K10 . GRCh38 chr19 40192033 40192033 + Translation_Start_Site SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.2T>G p.Met1? p.M1? ENST00000253055 1/10 64 46 15 28 27 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; G ENSG00000130758 ENST00000253055 Transcript start_lost 290/3436 2/2865 1/954 M/R aTg/aGg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS ATG . . 40192033 PARD6B . GRCh38 chr20 50731835 50731835 + Missense_Mutation SNP A A C novel 7316-393 BS_SCCY3YMQ A A c.49A>C p.Met17Leu p.M17L ENST00000371610 1/3 113 88 19 42 42 0 PARD6B,missense_variant,p.Met17Leu,ENST00000371610,NM_032521.2;PARD6B,missense_variant,p.Met17Leu,ENST00000396039,;,regulatory_region_variant,,ENSR00000138556,; C ENSG00000124171 ENST00000371610 Transcript missense_variant 292/4615 49/1119 17/372 M/L Atg/Ctg 1 1 PARD6B HGNC HGNC:16245 protein_coding YES CCDS33485.1 ENSP00000360672 Q9BYG5 UPI000006FA7C NM_032521.2 tolerated(0.23) benign(0.001) 1/3 Gene3D:3.10.20.90,Pfam_domain:PF00564,PROSITE_profiles:PS51745,hmmpanther:PTHR14102,hmmpanther:PTHR14102:SF4,SMART_domains:SM00666,Superfamily_domains:SSF54277,cd06403 MODERATE 1 SNV 1 PASS TAT . . 50731835 RUNX1 . GRCh38 chr21 34792325 34792325 + Missense_Mutation SNP A A C rs202068364 7316-393 BS_SCCY3YMQ A A c.1253T>G p.Met418Arg p.M418R ENST00000300305 8/8 60 37 12 25 24 0 RUNX1,missense_variant,p.Met391Arg,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Met418Arg,ENST00000300305,;RUNX1,missense_variant,p.Met418Arg,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Met327Arg,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1698/6222 1253/1443 418/480 M/R aTg/aGg rs202068364 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0.03) benign(0.028) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 0.0002 0.001 uncertain_significance MODERATE 1 SNV 1 1 1 PASS CAT . . 5.286e-05 7.534e-05 0.0001014 0.0002569 34792325 IGLV5-45 . GRCh38 chr22 22376041 22376041 + Missense_Mutation SNP T T C rs368274086 7316-393 BS_SCCY3YMQ T T c.28T>C p.Phe10Leu p.F10L ENST00000390296 1/2 84 73 7 48 48 0 IGLV5-45,missense_variant,p.Phe10Leu,ENST00000390296,;IGLV1-44,upstream_gene_variant,,ENST00000390297,;AC245291.3,downstream_gene_variant,,ENST00000443400,; C ENSG00000211650 ENST00000390296 Transcript missense_variant 56/397 28/369 10/123 F/L Ttc/Ctc rs368274086 1 1 IGLV5-45 HGNC HGNC:5924 IG_V_gene YES ENSP00000374831 A0A087WSX0 UPI0004620A24 tolerated(1) benign(0) 1/2 MODERATE 1 SNV PASS GTT . . 0.0003195 0.000703 8.282e-05 0.0001932 0.0001291 0.0006034 0.0002587 8.58e-05 22376041 PES1 . GRCh38 chr22 30577096 30577096 + Missense_Mutation SNP C C T rs750124332 7316-393 BS_SCCY3YMQ C C c.1717G>A p.Asp573Asn p.D573N ENST00000354694 15/15 63 45 15 25 25 0 PES1,missense_variant,p.Asp434Asn,ENST00000402281,NM_001282327.1;PES1,missense_variant,p.Asp434Asn,ENST00000405677,NM_001282328.1;PES1,missense_variant,p.Asp573Asn,ENST00000354694,NM_014303.3;PES1,missense_variant,p.Asp556Asn,ENST00000402284,;PES1,missense_variant,p.Asp568Asn,ENST00000335214,NM_001243225.1;PES1,missense_variant,p.Asp179Asn,ENST00000441668,;GAL3ST1,upstream_gene_variant,,ENST00000402369,NM_001318103.1;PES1,downstream_gene_variant,,ENST00000406208,;GAL3ST1,upstream_gene_variant,,ENST00000406361,NM_001318104.1,NM_001318108.1,NM_001318107.1;GAL3ST1,upstream_gene_variant,,ENST00000411821,;GAL3ST1,upstream_gene_variant,,ENST00000416358,;GAL3ST1,upstream_gene_variant,,ENST00000423371,;GAL3ST1,upstream_gene_variant,,ENST00000426220,;GAL3ST1,upstream_gene_variant,,ENST00000431313,;GAL3ST1,upstream_gene_variant,,ENST00000443136,;GAL3ST1,upstream_gene_variant,,ENST00000445645,;GAL3ST1,upstream_gene_variant,,ENST00000448604,;PES1,non_coding_transcript_exon_variant,,ENST00000488719,; T ENSG00000100029 ENST00000354694 Transcript missense_variant 1824/2295 1717/1767 573/588 D/N Gat/Aat rs750124332,COSM1033305 1 -1 PES1 HGNC HGNC:8848 protein_coding YES CCDS13880.1 ENSP00000346725 O00541 B2RDF2 UPI0000001618 NM_014303.3 deleterious(0) probably_damaging(0.986) 15/15 HAMAP:MF_03028,hmmpanther:PTHR12221,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS TCG . . 6.505e-05 0.0001166 0.0001823 6.498e-05 30577096 CCDC120 . GRCh38 chrX 49067992 49067992 + Missense_Mutation SNP T T G novel 7316-393 BS_SCCY3YMQ T T c.1878T>G p.His626Gln p.H626Q ENST00000603986 10/11 56 36 6 64 62 0 CCDC120,missense_variant,p.His591Gln,ENST00000606812,NM_033626.3,NM_001271835.1;CCDC120,missense_variant,p.His591Gln,ENST00000597275,NM_001271836.1;CCDC120,missense_variant,p.His591Gln,ENST00000496529,;CCDC120,missense_variant,p.His579Gln,ENST00000536628,NM_001163322.2,NM_001163323.2;CCDC120,missense_variant,p.His626Gln,ENST00000603986,NM_001163321.2;WDR45,downstream_gene_variant,,ENST00000376358,;PRAF2,downstream_gene_variant,,ENST00000376386,;PRAF2,downstream_gene_variant,,ENST00000553851,NM_007213.2;PRAF2,downstream_gene_variant,,ENST00000618882,;CCDC120,3_prime_UTR_variant,,ENST00000603906,;CCDC120,non_coding_transcript_exon_variant,,ENST00000620388,; G ENSG00000147144 ENST00000603986 Transcript missense_variant 2055/2379 1878/2091 626/696 H/Q caT/caG 1 1 CCDC120 HGNC HGNC:28910 protein_coding YES CCDS55414.2 ENSP00000474071 Q96HB5 UPI00017A6E2D NM_001163321.2 tolerated(0.29) benign(0.007) 10/11 Low_complexity_(Seg):seg,hmmpanther:PTHR16093:SF5,hmmpanther:PTHR16093 MODERATE SNV 2 PASS ATG . . 49067992 TEX13D . GRCh38 chrX 124334213 124334213 + Missense_Mutation SNP G G C rs1199315517 7316-393 BS_SCCY3YMQ G G c.1296G>C p.Arg432Ser p.R432S ENST00000632372 1/1 54 45 8 33 31 0 TEX13D,missense_variant,p.Arg432Ser,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; C ENSG00000282419 ENST00000632372 Transcript missense_variant 1554/4203 1296/2145 432/714 R/S agG/agC rs1199315517 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.54) benign(0.011) 1/1 mobidb-lite MODERATE 1 SNV PASS GGT . . 124334213 MAGEC1 . GRCh38 chrX 141907796 141907796 + Missense_Mutation SNP C C T 7316-393 BS_SCCY3YMQ C C c.2392C>T p.Pro798Ser p.P798S ENST00000285879 4/4 54 45 8 38 37 0 MAGEC1,missense_variant,p.Pro798Ser,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; T ENSG00000155495 ENST00000285879 Transcript missense_variant 2678/4270 2392/3429 798/1142 P/S Cct/Tct COSM365467 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 deleterious_low_confidence(0.04) benign(0.235) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS TCC . . 141907796 MT-CYB . GRCh38 chrM 15173 15173 + Missense_Mutation SNP G G A rs878866549 7316-393 BS_SCCY3YMQ G G c.427G>A p.Ala143Thr p.A143T ENST00000361789 1/1 28562 27369 1047 5262 5158 2 MT-CYB,missense_variant,p.Ala143Thr,ENST00000361789,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND5,downstream_gene_variant,,ENST00000361567,;MT-ND6,upstream_gene_variant,,ENST00000361681,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,upstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,TF_binding_site_variant,,MA0366.1,;,TF_binding_site_variant,,MA0341.1,; A ENSG00000198727 ENST00000361789 Transcript missense_variant 427/1141 427/1141 143/380 A/T Gcc/Acc rs878866549 1 1 MT-CYB HGNC HGNC:7427 protein_coding YES ENSP00000354554 P00156 Q0ZFD6 UPI0000DA7DCA deleterious_low_confidence(0) probably_damaging(0.999) 1/1 PDB-ENSP_mappings:5xte.J,PDB-ENSP_mappings:5xte.V,PDB-ENSP_mappings:5xth.AJ,PDB-ENSP_mappings:5xth.AV,PDB-ENSP_mappings:5xti.AJ,PDB-ENSP_mappings:5xti.AV,Transmembrane_helices:TMhelix,PROSITE_profiles:PS51002,cd00284,hmmpanther:PTHR19271,Pfam_domain:PF00033,Gene3D:1.20.810.10,PIRSF_domain:PIRSF038885,Superfamily_domains:SSF81342 MODERATE 1 SNV 1 PASS GGC . . 15173 ZNHIT6 . GRCh38 chr1 85708256 85708256 + Missense_Mutation SNP T T G novel 7316-350 BS_9704T3DW T T c.29A>C p.Lys10Thr p.K10T ENST00000370574 1/10 73 63 10 39 37 1 ZNHIT6,missense_variant,p.Lys10Thr,ENST00000431532,NM_001170670.1;ZNHIT6,missense_variant,p.Lys10Thr,ENST00000370574,NM_017953.3;,regulatory_region_variant,,ENSR00000009274,; G ENSG00000117174 ENST00000370574 Transcript missense_variant 163/2797 29/1413 10/470 K/T aAg/aCg 1 -1 ZNHIT6 HGNC HGNC:26089 protein_coding YES CCDS707.1 ENSP00000359606 Q9NWK9 UPI000006D8D2 NM_017953.3 tolerated_low_confidence(1) benign(0) 1/10 mobidb-lite MODERATE 1 SNV 1 PASS CTT . . 85708256 NENF . GRCh38 chr1 212432944 212432944 + Translation_Start_Site SNP A A C novel 7316-350 BS_9704T3DW A A c.1A>C p.Met1? p.M1? ENST00000366988 1/4 69 54 11 28 27 1 NENF,start_lost,p.Met1?,ENST00000366988,NM_013349.4;NENF,non_coding_transcript_exon_variant,,ENST00000479589,;NENF,upstream_gene_variant,,ENST00000472389,;NENF,upstream_gene_variant,,ENST00000473900,;,regulatory_region_variant,,ENSR00000019704,; C ENSG00000117691 ENST00000366988 Transcript start_lost 58/949 1/519 1/172 M/L Atg/Ctg 1 1 NENF HGNC HGNC:30384 protein_coding YES CCDS1505.1 ENSP00000355955 Q9UMX5 UPI000006E19B NM_013349.4 deleterious_low_confidence(0.05) benign(0.001) 1/4 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF39 HIGH 1 SNV 1 PASS CAT . . 212432944 LINC01341 . GRCh38 chr1 246791200 246791200 + Splice_Region SNP G A A rs12117291 7316-350 BS_9704T3DW G G n.2271+5G>A ENST00000421003 63 18 45 32 27 4 LINC01341,splice_region_variant,,ENST00000421003,;LINC01341,intron_variant,,ENST00000419361,;LINC01341,downstream_gene_variant,,ENST00000505748,;KIF28P,upstream_gene_variant,,ENST00000451123,;LINC01341,non_coding_transcript_exon_variant,,ENST00000426089,;KIF28P,intron_variant,,ENST00000504864,; A ENSG00000227953 ENST00000421003 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs12117291 1 1 LINC01341 HGNC HGNC:49457 lincRNA YES 5/5 0.2492 0.0204 0.2939 0.253 0.3678 0.4008 LOW 1 SNV 2 PASS CGT . . 246791200 RTN4 . GRCh38 chr2 55050002 55050002 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.299T>G p.Val100Gly p.V100G ENST00000337526 1/9 69 57 9 27 26 1 RTN4,missense_variant,p.Val100Gly,ENST00000337526,NM_020532.4;RTN4,missense_variant,p.Val100Gly,ENST00000357732,NM_207520.1;RTN4,missense_variant,p.Val100Gly,ENST00000317610,NM_153828.2;RTN4,missense_variant,p.Val72Gly,ENST00000402434,;RTN4,intron_variant,,ENST00000394611,NM_001321860.1;RTN4,intron_variant,,ENST00000404909,NM_001321859.1;RTN4,intron_variant,,ENST00000427710,;RTN4,upstream_gene_variant,,ENST00000357376,NM_207521.1;RTN4,upstream_gene_variant,,ENST00000405240,NM_001321904.1,NM_001321862.1,NM_001321861.1,NM_001321863.1;RTN4,upstream_gene_variant,,ENST00000438462,;,regulatory_region_variant,,ENSR00000117303,; C ENSG00000115310 ENST00000337526 Transcript missense_variant 543/4790 299/3579 100/1192 V/G gTc/gGc 1 -1 RTN4 HGNC HGNC:14085 protein_coding YES CCDS42684.1 ENSP00000337838 Q9NQC3 UPI000000D81D NM_020532.4 deleterious_low_confidence(0) benign(0.003) 1/9 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAC . . 55050002 DUSP2 . GRCh38 chr2 96145158 96145158 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.197T>G p.Val66Gly p.V66G ENST00000288943 1/4 72 59 11 30 28 1 DUSP2,missense_variant,p.Val66Gly,ENST00000288943,NM_004418.3;AC012307.1,downstream_gene_variant,,ENST00000449242,;DUSP2,upstream_gene_variant,,ENST00000488952,;,regulatory_region_variant,,ENSR00000120234,; C ENSG00000158050 ENST00000288943 Transcript missense_variant 283/1688 197/945 66/314 V/G gTt/gGt 1 -1 DUSP2 HGNC HGNC:3068 protein_coding YES CCDS2016.1 ENSP00000288943 Q05923 UPI000012995D NM_004418.3 tolerated(0.59) benign(0) 1/4 Low_complexity_(Seg):seg,cd01446,Pfam_domain:PF00581,PIRSF_domain:PIRSF000939,Gene3D:3.40.250.10,SMART_domains:SM00450,Superfamily_domains:SSF52821,PROSITE_profiles:PS50206,hmmpanther:PTHR10159:SF109,hmmpanther:PTHR10159 MODERATE 1 SNV 1 PASS AAC . . 96145158 FAM117B . GRCh38 chr2 202635636 202635636 + Missense_Mutation SNP T T G novel 7316-350 BS_9704T3DW T T c.449T>G p.Val150Gly p.V150G ENST00000392238 1/8 83 66 10 29 28 0 FAM117B,missense_variant,p.Val150Gly,ENST00000392238,NM_173511.3;FAM117B,non_coding_transcript_exon_variant,,ENST00000481658,;,regulatory_region_variant,,ENSR00000128968,; G ENSG00000138439 ENST00000392238 Transcript missense_variant 449/5763 449/1770 150/589 V/G gTg/gGg 1 1 FAM117B HGNC HGNC:14440 protein_coding YES CCDS33362.2 ENSP00000376071 Q6P1L5 UPI00015B3B88 NM_173511.3 tolerated_low_confidence(0.14) benign(0) 1/8 hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF6,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 202635636 ERFE . GRCh38 chr2 238159150 238159150 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.143A>C p.Asn48Thr p.N48T ENST00000546354 1/8 49 34 14 28 25 2 ERFE,missense_variant,p.Asn48Thr,ENST00000546354,NM_001291832.1;KLHL30-AS1,upstream_gene_variant,,ENST00000623136,;ERFE,non_coding_transcript_exon_variant,,ENST00000486834,;ERFE,upstream_gene_variant,,ENST00000473274,;ERFE,upstream_gene_variant,,ENST00000479091,;ERFE,upstream_gene_variant,,ENST00000481917,;,regulatory_region_variant,,ENSR00000132791,; C ENSG00000178752 ENST00000546354 Transcript missense_variant 143/1065 143/1065 48/354 N/T aAc/aCc 1 1 ERFE HGNC HGNC:26727 protein_coding YES CCDS77548.1 ENSP00000442304 Q4G0M1 UPI0000F07B77 NM_001291832.1 tolerated(0.36) unknown(0) 1/8 hmmpanther:PTHR24019,hmmpanther:PTHR24019:SF11,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 238159150 SLC10A4 . GRCh38 chr4 48483814 48483814 + Missense_Mutation SNP T T G novel 7316-350 BS_9704T3DW T T c.253T>G p.Phe85Val p.F85V ENST00000273861 1/3 74 55 16 23 22 1 SLC10A4,missense_variant,p.Phe85Val,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168127,; G ENSG00000145248 ENST00000273861 Transcript missense_variant 472/1790 253/1314 85/437 F/V Ttc/Gtc 1 1 SLC10A4 HGNC HGNC:22980 protein_coding YES CCDS3482.1 ENSP00000273861 Q96EP9 UPI000006E8DB NM_152679.3 deleterious(0.02) benign(0) 1/3 hmmpanther:PTHR10361:SF41,hmmpanther:PTHR10361 MODERATE 1 SNV 1 PASS GTT . . 48483814 SLC9A3 . GRCh38 chr5 524322 524322 + Translation_Start_Site SNP T T G novel 7316-350 BS_9704T3DW T T c.1A>C p.Met1? p.M1? ENST00000264938 1/17 76 56 15 31 26 1 SLC9A3,start_lost,p.Met1?,ENST00000644203,;SLC9A3,start_lost,p.Met1?,ENST00000264938,NM_004174.3;SLC9A3,start_lost,p.Met1?,ENST00000514375,NM_001284351.2;AC106772.2,upstream_gene_variant,,ENST00000515085,;,regulatory_region_variant,,ENSR00000177436,; G ENSG00000066230 ENST00000264938 Transcript start_lost 11/2584 1/2505 1/834 M/L Atg/Ctg 1 -1 SLC9A3 HGNC HGNC:11073 protein_coding YES CCDS3855.1 ENSP00000264938 P48764 UPI000013D597 NM_004174.3 deleterious_low_confidence(0) benign(0.001) 1/17 Cleavage_site_(Signalp):SignalP-TM HIGH 1 SNV 1 1 PASS ATT . . 524322 NOD1 . GRCh38 chr7 30451276 30451276 + Missense_Mutation SNP T T G novel 7316-350 BS_9704T3DW T T c.2141A>C p.Asn714Thr p.N714T ENST00000222823 6/14 82 71 11 39 37 0 NOD1,missense_variant,p.Asn714Thr,ENST00000222823,NM_006092.2;NOD1,missense_variant,p.Asn714Thr,ENST00000434755,;NOD1,upstream_gene_variant,,ENST00000489614,; G ENSG00000106100 ENST00000222823 Transcript missense_variant 2667/4499 2141/2862 714/953 N/T aAt/aCt 1 -1 NOD1 HGNC HGNC:16390 protein_coding YES CCDS5427.1 ENSP00000222823 Q9Y239 A0A024RA73 UPI00000375EE NM_006092.2 deleterious(0) probably_damaging(0.996) 6/14 Low_complexity_(Seg):seg,hmmpanther:PTHR24106:SF18,hmmpanther:PTHR24106,Gene3D:3.40.50.10480,Superfamily_domains:SSF52047 MODERATE 1 SNV 1 PASS ATT . . 30451276 FZD9 . GRCh38 chr7 73434330 73434330 + Missense_Mutation SNP T T G novel 7316-350 BS_9704T3DW T T c.323T>G p.Ile108Ser p.I108S ENST00000344575 1/1 79 65 12 50 48 2 FZD9,missense_variant,p.Ile108Ser,ENST00000344575,NM_003508.2; G ENSG00000188763 ENST00000344575 Transcript missense_variant 548/2338 323/1776 108/591 I/S aTt/aGt 1 1 FZD9 HGNC HGNC:4047 protein_coding YES CCDS5548.1 ENSP00000345785 O00144 UPI000004EC98 NM_003508.2 deleterious(0) probably_damaging(0.934) 1/1 PROSITE_profiles:PS50038,cd07463,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,Pfam_domain:PF01392,Gene3D:1.10.2000.10,SMART_domains:SM00063,Superfamily_domains:SSF63501 MODERATE 1 SNV PASS ATT . . 73434330 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-350 BS_9704T3DW A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 69 55 14 31 30 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 MFHAS1 . GRCh38 chr8 8892733 8892733 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.326T>G p.Leu109Arg p.L109R ENST00000276282 1/3 49 25 9 21 17 0 MFHAS1,missense_variant,p.Leu109Arg,ENST00000276282,NM_004225.2;RNU6-682P,upstream_gene_variant,,ENST00000363843,;,regulatory_region_variant,,ENSR00000220826,; C ENSG00000147324 ENST00000276282 Transcript missense_variant 913/6414 326/3159 109/1052 L/R cTc/cGc 1 -1 MFHAS1 HGNC HGNC:16982 protein_coding YES CCDS34844.1 ENSP00000276282 Q9Y4C4 UPI000013DAB6 NM_004225.2 deleterious(0) probably_damaging(0.999) 1/3 Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR44393,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS GAG . . 8892733 ADGRD2 . GRCh38 chr9 124453326 124453326 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.573A>C p.His192Pro p.H192P ENST00000334810 3/22 79 64 12 35 33 1 ADGRD2,missense_variant,p.His192Pro,ENST00000334810,;ADGRD2,non_coding_transcript_exon_variant,,ENST00000638707,;ADGRD2,downstream_gene_variant,,ENST00000618308,;ADGRD2,upstream_gene_variant,,ENST00000639026,;,regulatory_region_variant,,ENSR00000241289,; C ENSG00000180264 ENST00000334810 Transcript missense_variant 573/3244 575/2919 192/972 H/P cAt/cCt 1 1 ADGRD2 HGNC HGNC:18651 protein_coding YES ENSP00000335156 Q7Z7M1 UPI0004620CFA deleterious(0) probably_damaging(0.929) 3/22 PROSITE_profiles:PS51828,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF58,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899,Prints_domain:PR00895 MODERATE 1 SNV 5 PASS CAT . . 124453326 FAM186A . GRCh38 chr12 50352988 50352988 + Missense_Mutation SNP T T G rs1269471437 7316-350 BS_9704T3DW T T c.3844A>C p.Lys1282Gln p.K1282Q ENST00000327337 4/8 44 32 7 22 20 0 FAM186A,missense_variant,p.Lys1282Gln,ENST00000543111,;FAM186A,missense_variant,p.Lys1282Gln,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 3844/7127 3844/7056 1282/2351 K/Q Aag/Cag rs1269471437,COSM6299926 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS TTA . . 50352988 PSPC1 . GRCh38 chr13 19782576 19782576 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.182T>G p.Met61Arg p.M61R ENST00000338910 1/9 77 64 9 30 30 0 PSPC1,missense_variant,p.Met61Arg,ENST00000338910,NM_001354909.1;PSPC1,missense_variant,p.Met61Arg,ENST00000619300,NM_001042414.2;PSPC1,missense_variant,p.Met61Arg,ENST00000427943,;PSPC1,missense_variant,p.Met61Arg,ENST00000492741,;PSPC1,missense_variant,p.Met61Arg,ENST00000471658,;,regulatory_region_variant,,ENSR00000059614,; C ENSG00000121390 ENST00000338910 Transcript missense_variant 342/2407 182/1572 61/523 M/R aTg/aGg 1 -1 PSPC1 HGNC HGNC:20320 protein_coding YES CCDS41870.1 ENSP00000343966 Q8WXF1 UPI000006F2BE NM_001354909.1 tolerated(0.52) benign(0) 1/9 Low_complexity_(Seg):seg,hmmpanther:PTHR23189:SF14,hmmpanther:PTHR23189,Gene3D:3.30.70.330 MODERATE 1 SNV 1 PASS CAT . . 19782576 PABPC3 . GRCh38 chr13 25097997 25097997 + Missense_Mutation SNP C C A rs796078185 7316-350 BS_9704T3DW C C c.1799C>A p.Ser600Tyr p.S600Y ENST00000281589 1/1 88 74 10 43 43 0 PABPC3,missense_variant,p.Ser600Tyr,ENST00000281589,NM_030979.2; A ENSG00000151846 ENST00000281589 Transcript missense_variant 2130/3387 1799/1896 600/631 S/Y tCt/tAt rs796078185 1 1 PABPC3 HGNC HGNC:8556 protein_coding YES CCDS9311.1 ENSP00000281589 Q9H361 Q5VX58 UPI00001311AB NM_030979.2 deleterious(0.03) benign(0.185) 1/1 Gene3D:1.10.1900.10,PDB-ENSP_mappings:4ive.A,PDB-ENSP_mappings:4ive.B,PDB-ENSP_mappings:4ive.C,PDB-ENSP_mappings:4ive.D,Pfam_domain:PF00658,PROSITE_profiles:PS51309,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF680,SMART_domains:SM00517,Superfamily_domains:SSF63570,TIGRFAM_domain:TIGR01628 MODERATE 1 SNV PASS TCT . . 25097997 PCDH8 . GRCh38 chr13 52846089 52846089 + Missense_Mutation SNP T T G novel 7316-350 BS_9704T3DW T T c.2348A>C p.Lys783Thr p.K783T ENST00000377942 1/3 79 63 13 34 32 0 PCDH8,missense_variant,p.Lys783Thr,ENST00000377942,NM_002590.3;PCDH8,splice_region_variant,,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;,regulatory_region_variant,,ENSR00000063158,; G ENSG00000136099 ENST00000377942 Transcript missense_variant 2552/5088 2348/3213 783/1070 K/T aAa/aCa 1 -1 PCDH8 HGNC HGNC:8660 protein_coding YES CCDS9438.1 ENSP00000367177 O95206 UPI0000072D47 NM_002590.3 tolerated(0.31) benign(0.119) 1/3 hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46,mobidb-lite MODERATE 1 SNV 1 PASS TTT . . 52846089 PPP1R3E . GRCh38 chr14 23301587 23301587 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.689T>G p.Ile230Ser p.I230S ENST00000452015 2/5 100 87 12 41 37 3 PPP1R3E,missense_variant,p.Ile230Ser,ENST00000452015,NM_001276318.1;BCL2L2,intron_variant,,ENST00000553824,;PPP1R3E,upstream_gene_variant,,ENST00000558058,;PPP1R3E,upstream_gene_variant,,ENST00000559314,;PPP1R3E,upstream_gene_variant,,ENST00000559942,;PPP1R3E,upstream_gene_variant,,ENST00000560913,;HOMEZ,upstream_gene_variant,,ENST00000561013,;PPP1R3E,upstream_gene_variant,,ENST00000561437,;PPP1R3E,upstream_gene_variant,,ENST00000560073,;PPP1R3E,upstream_gene_variant,,ENST00000561426,;PPP1R3E,upstream_gene_variant,,ENST00000561178,;,regulatory_region_variant,,ENSR00000066724,;,TF_binding_site_variant,,MA0531.1,; C ENSG00000235194 ENST00000452015 Transcript missense_variant 961/4773 689/840 230/279 I/S aTt/aGt 1 -1 PPP1R3E HGNC HGNC:14943 protein_coding YES CCDS61403.1 ENSP00000408288 Q9H7J1 UPI00001C1F69 NM_001276318.1 tolerated(0.38) benign(0) 2/5 PROSITE_profiles:PS51159,hmmpanther:PTHR12307:SF20,hmmpanther:PTHR12307,Pfam_domain:PF03370,Gene3D:2.60.40.10 MODERATE 1 SNV 2 PASS AAT . . 23301587 STRN3 . GRCh38 chr14 31026082 31026082 + Missense_Mutation SNP T T G novel 7316-350 BS_9704T3DW T T c.104A>C p.Asn35Thr p.N35T ENST00000357479 1/18 75 59 14 36 33 1 STRN3,missense_variant,p.Asn35Thr,ENST00000355683,NM_014574.3;STRN3,missense_variant,p.Asn35Thr,ENST00000357479,NM_001083893.1;AP4S1,intron_variant,,ENST00000216366,NM_007077.4;AP4S1,intron_variant,,ENST00000313566,;AP4S1,intron_variant,,ENST00000334725,NM_001254727.1;AP4S1,intron_variant,,ENST00000542754,NM_001128126.2;AP4S1,intron_variant,,ENST00000554345,NM_001254726.1;AP4S1,intron_variant,,ENST00000554609,;AP4S1,intron_variant,,ENST00000556232,;AP4S1,intron_variant,,ENST00000557346,;AP4S1,intron_variant,,ENST00000622409,NM_001254729.1;AP4S1,upstream_gene_variant,,ENST00000555417,;AP4S1,upstream_gene_variant,,ENST00000616371,NM_001254728.1;STRN3,missense_variant,p.Asn35Thr,ENST00000555358,;,regulatory_region_variant,,ENSR00000067178,; G ENSG00000196792 ENST00000357479 Transcript missense_variant 301/2799 104/2394 35/797 N/T aAc/aCc 1 -1 STRN3 HGNC HGNC:15720 protein_coding YES CCDS41938.1 ENSP00000350071 Q13033 UPI0000F734B1 NM_001083893.1 tolerated_low_confidence(0.88) benign(0) 1/18 hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS GTT . . 31026082 AHNAK2 . GRCh38 chr14 104946437 104946437 + Missense_Mutation SNP G G T rs570457179 7316-350 BS_9704T3DW G G c.9014C>A p.Ala3005Glu p.A3005E ENST00000333244 7/7 35 25 7 27 27 0 AHNAK2,missense_variant,p.Ala3005Glu,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; T ENSG00000185567 ENST00000333244 Transcript missense_variant 9134/18254 9014/17388 3005/5795 A/E gCg/gAg rs570457179 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.08) benign(0.094) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.0012 0.0045 MODERATE 1 SNV 5 PASS CGC . . 4.067e-05 0.0005904 8.97e-06 104946437 AC104574.2 . GRCh38 chr15 61300542 61300542 + Splice_Region DEL A A - rs1178768878 7316-350 BS_9704T3DW A A n.237-3del ENST00000559783 50 32 10 35 30 0 AC104574.2,splice_region_variant,,ENST00000559783,; - ENSG00000259616 ENST00000559783 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1178768878 1 -1 AC104574.2 Clone_based_ensembl_gene lincRNA YES 4/4 LOW 1 deletion 3 PASS CTAA . . 61300541 PDCD7 . GRCh38 chr15 65133541 65133541 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.241T>G p.Tyr81Asp p.Y81D ENST00000204549 1/5 89 78 8 37 36 0 PDCD7,missense_variant,p.Tyr81Asp,ENST00000204549,NM_005707.1;PDCD7,upstream_gene_variant,,ENST00000560313,;,regulatory_region_variant,,ENSR00000078048,; C ENSG00000090470 ENST00000204549 Transcript missense_variant 296/2851 241/1458 81/485 Y/D Tac/Gac 1 -1 PDCD7 HGNC HGNC:8767 protein_coding YES CCDS10201.1 ENSP00000204549 Q8N8D1 Q6IEG3 UPI00000731D7 NM_005707.1 tolerated(0.27) benign(0.092) 1/5 hmmpanther:PTHR44604,mobidb-lite MODERATE 1 SNV 1 PASS TAG . . 65133541 EME2 . GRCh38 chr16 1773843 1773843 + Splice_Site SNP T T G novel 7316-350 BS_9704T3DW T T c.384+2T>G p.X128_splice ENST00000568449 70 58 10 38 36 2 EME2,splice_donor_variant,,ENST00000568449,NM_001257370.1;MRPS34,upstream_gene_variant,,ENST00000177742,NM_001300900.1;NME3,upstream_gene_variant,,ENST00000219302,NM_002513.2;MAPK8IP3,downstream_gene_variant,,ENST00000250894,NM_015133.4;SPSB3,downstream_gene_variant,,ENST00000301717,NM_001324081.1;MAPK8IP3,downstream_gene_variant,,ENST00000356010,NM_001040439.1;MRPS34,upstream_gene_variant,,ENST00000397375,NM_023936.1;NME3,upstream_gene_variant,,ENST00000563498,;NME3,upstream_gene_variant,,ENST00000564628,;SPSB3,downstream_gene_variant,,ENST00000566339,NM_080861.3;SPSB3,downstream_gene_variant,,ENST00000569769,;MAPK8IP3,downstream_gene_variant,,ENST00000610761,NM_001318852.1;EME2,splice_donor_variant,,ENST00000570069,;EME2,upstream_gene_variant,,ENST00000561564,;NME3,upstream_gene_variant,,ENST00000561637,;EME2,upstream_gene_variant,,ENST00000561903,;NME3,upstream_gene_variant,,ENST00000563367,;SPSB3,downstream_gene_variant,,ENST00000563668,;SPSB3,downstream_gene_variant,,ENST00000563705,;SPSB3,downstream_gene_variant,,ENST00000563741,;NME3,upstream_gene_variant,,ENST00000563854,;MAPK8IP3,downstream_gene_variant,,ENST00000563868,;SPSB3,downstream_gene_variant,,ENST00000564070,;EME2,upstream_gene_variant,,ENST00000564182,;NME3,upstream_gene_variant,,ENST00000564252,;SPSB3,downstream_gene_variant,,ENST00000564709,;EME2,upstream_gene_variant,,ENST00000565326,;NME3,upstream_gene_variant,,ENST00000565379,;SPSB3,downstream_gene_variant,,ENST00000565550,;NME3,upstream_gene_variant,,ENST00000566600,;NME3,upstream_gene_variant,,ENST00000567271,;SPSB3,downstream_gene_variant,,ENST00000567868,;NME3,upstream_gene_variant,,ENST00000568561,;SPSB3,downstream_gene_variant,,ENST00000569380,;MRPS34,upstream_gene_variant,,ENST00000569585,;,regulatory_region_variant,,ENSR00000082385,; G ENSG00000197774 ENST00000568449 Transcript splice_donor_variant 1 1 EME2 HGNC HGNC:27289 protein_coding YES CCDS58404.1 ENSP00000457353 A4GXA9 UPI0000F57C10 NM_001257370.1 2/7 HIGH 1 SNV 1 PASS GTG . . 1773843 FAM83G . GRCh38 chr17 18977945 18977945 + Missense_Mutation SNP T T G novel 7316-350 BS_9704T3DW T T c.1721A>C p.Asn574Thr p.N574T ENST00000388995 5/6 70 54 15 44 43 1 FAM83G,missense_variant,p.Asn574Thr,ENST00000388995,NM_001039999.2;FAM83G,missense_variant,p.Asn574Thr,ENST00000345041,;SLC5A10,intron_variant,,ENST00000317977,NM_001282417.1;SLC5A10,intron_variant,,ENST00000395643,NM_001270648.1;SLC5A10,intron_variant,,ENST00000395645,NM_001042450.2;SLC5A10,intron_variant,,ENST00000395647,NM_152351.4;SLC5A10,intron_variant,,ENST00000417251,NM_001270649.1;FAM83G,upstream_gene_variant,,ENST00000580115,;FAM83G,non_coding_transcript_exon_variant,,ENST00000399096,; G ENSG00000188522 ENST00000388995 Transcript missense_variant 1945/5266 1721/2472 574/823 N/T aAt/aCt 1 -1 FAM83G HGNC HGNC:32554 protein_coding YES CCDS42276.1 ENSP00000373647 A6ND36 UPI0000E03260 NM_001039999.2 deleterious(0) probably_damaging(0.922) 5/6 hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF5,mobidb-lite MODERATE SNV 5 PASS ATT . . 18977945 SMARCD2 . GRCh38 chr17 63842490 63842490 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.185T>G p.Met62Arg p.M62R ENST00000448276 1/13 74 57 11 44 40 3 SMARCD2,missense_variant,p.Met62Arg,ENST00000448276,NM_001098426.1;SMARCD2,missense_variant,p.Met25Arg,ENST00000613943,NM_001330439.1,NM_001330440.1;SMARCD2,missense_variant,p.Met62Arg,ENST00000577990,;SMARCD2,upstream_gene_variant,,ENST00000225742,;SMARCD2,upstream_gene_variant,,ENST00000323347,;SMARCD2,missense_variant,p.Met62Arg,ENST00000584400,;SMARCD2,non_coding_transcript_exon_variant,,ENST00000577686,;SMARCD2,upstream_gene_variant,,ENST00000580054,;,regulatory_region_variant,,ENSR00000096846,;,TF_binding_site_variant,,PB0124.1,; C ENSG00000108604 ENST00000448276 Transcript missense_variant 451/2716 185/1596 62/531 M/R aTg/aGg 1 -1 SMARCD2 HGNC HGNC:11107 protein_coding YES CCDS45756.1 ENSP00000392617 Q92925 UPI0000D695F8 NM_001098426.1 tolerated_low_confidence(0.15) benign(0.001) 1/13 hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF2 MODERATE 1 SNV 1 1 PASS CAT . . 63842490 SEMA6B . GRCh38 chr19 4543638 4543638 + Missense_Mutation SNP T T G novel 7316-350 BS_9704T3DW T T c.2630A>C p.Tyr877Ser p.Y877S ENST00000586582 17/17 58 43 12 37 35 2 SEMA6B,missense_variant,p.Tyr877Ser,ENST00000586582,NM_032108.3;SEMA6B,intron_variant,,ENST00000586965,;LRG1,upstream_gene_variant,,ENST00000306390,NM_052972.2;LRG1,upstream_gene_variant,,ENST00000586883,;AC011498.4,upstream_gene_variant,,ENST00000586020,;SEMA6B,downstream_gene_variant,,ENST00000589889,;,regulatory_region_variant,,ENSR00000106224,; G ENSG00000167680 ENST00000586582 Transcript missense_variant 2941/3986 2630/2667 877/888 Y/S tAt/tCt 1 -1 SEMA6B HGNC HGNC:10739 protein_coding YES CCDS12131.1 ENSP00000467290 Q9H3T3 UPI000004BA6B NM_032108.3 tolerated_low_confidence(0.18) benign(0.01) 17/17 mobidb-lite,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10 MODERATE 1 SNV 1 PASS ATA . . 4543638 TPRX1 . GRCh38 chr19 47802355 47802355 + Missense_Mutation SNP T T A rs747945952 7316-350 BS_9704T3DW T T c.656A>T p.Asn219Ile p.N219I ENST00000322175 2/2 68 48 14 26 22 1 TPRX1,missense_variant,p.Asn316Ile,ENST00000535759,;TPRX1,missense_variant,p.Asn219Ile,ENST00000322175,NM_198479.2;TPRX1,missense_variant,p.Asn209Ile,ENST00000543508,; A ENSG00000178928 ENST00000322175 Transcript missense_variant 812/1924 656/1236 219/411 N/I aAc/aTc rs747945952,COSM998809,COSM6424891 1 -1 TPRX1 HGNC HGNC:32174 protein_coding YES CCDS33066.1 ENSP00000323455 Q8N7U7 UPI0000198666 NM_198479.2 tolerated(0.19) benign(0) 2/2 hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF25,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GTT . . 0.0001355 0.0004545 0.0005122 9.724e-05 5.978e-05 47802355 SHANK1 . GRCh38 chr19 50668365 50668365 + Missense_Mutation SNP T T G novel 7316-350 BS_9704T3DW T T c.3595A>C p.Ser1199Arg p.S1199R ENST00000293441 22/23 65 50 11 29 29 0 SHANK1,missense_variant,p.Ser1199Arg,ENST00000293441,NM_016148.3;SHANK1,missense_variant,p.Ser1207Arg,ENST00000391814,;SHANK1,missense_variant,p.Ser1190Arg,ENST00000359082,;SHANK1,missense_variant,p.Ser586Arg,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,; G ENSG00000161681 ENST00000293441 Transcript missense_variant 3614/6643 3595/6486 1199/2161 S/R Agc/Cgc 1 -1 SHANK1 HGNC HGNC:15474 protein_coding YES CCDS12799.1 ENSP00000293441 Q9Y566 UPI000013E109 NM_016148.3 tolerated(0.5) benign(0.044) 22/23 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3 MODERATE 1 SNV 1 1 PASS CTG . . 50668365 RUNX1 . GRCh38 chr21 34792308 34792308 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.1270T>G p.Ser424Ala p.S424A ENST00000300305 8/8 42 25 10 29 23 1 RUNX1,missense_variant,p.Ser397Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Ser424Ala,ENST00000300305,;RUNX1,missense_variant,p.Ser424Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser333Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1715/6222 1270/1443 424/480 S/A Tcg/Gcg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) possibly_damaging(0.453) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS GAG . . 34792308 MAPK1 . GRCh38 chr22 21867439 21867439 + Translation_Start_Site SNP A A C novel 7316-350 BS_9704T3DW A A c.2T>G p.Met1? p.M1? ENST00000215832 1/9 62 50 12 30 28 2 MAPK1,start_lost,p.Met1?,ENST00000215832,NM_002745.4;MAPK1,start_lost,p.Met1?,ENST00000398822,NM_138957.3;MAPK1,start_lost,p.Met1?,ENST00000544786,;,regulatory_region_variant,,ENSR00000144070,;,TF_binding_site_variant,,MA0095.2,; C ENSG00000100030 ENST00000215832 Transcript start_lost 191/11022 2/1083 1/360 M/R aTg/aGg 1 -1 MAPK1 HGNC HGNC:6871 protein_coding YES CCDS13795.1 ENSP00000215832 P28482 Q1HBJ4 UPI000000104F NM_002745.4 deleterious_low_confidence(0) benign(0.003) 1/9 HIGH 1 SNV 1 1 PASS CAT . . 21867439 AKAP17A . GRCh38 chrX 1601036 1601036 + Missense_Mutation SNP A A C novel 7316-350 BS_9704T3DW A A c.1530A>C p.Lys510Asn p.K510N ENST00000313871 5/5 86 72 8 34 32 1 AKAP17A,missense_variant,p.Lys510Asn,ENST00000313871,NM_005088.2;AKAP17A,downstream_gene_variant,,ENST00000381261,;AKAP17A,3_prime_UTR_variant,,ENST00000474361,; C ENSG00000197976 ENST00000313871 Transcript missense_variant 1726/3204 1530/2088 510/695 K/N aaA/aaC 1 1 AKAP17A HGNC HGNC:18783 protein_coding YES CCDS14116.1 ENSP00000324827 Q02040 UPI00001AF072 NM_005088.2 deleterious_low_confidence(0) possibly_damaging(0.451) 5/5 hmmpanther:PTHR12484,hmmpanther:PTHR12484:SF2,mobidb-lite MODERATE 1 SNV 1 PASS AAA . . 1601036 RAP1A . GRCh38 chr1 111619940 111619940 + Splice_Region SNP T T G rs1184050163 7316-186 BS_WCAMS5WN T T c.-28+6T>G ENST00000369709 60 41 11 50 43 2 RAP1A,splice_region_variant,,ENST00000369709,NM_001291896.1,NM_001010935.2,NM_002884.3;RAP1A,splice_region_variant,,ENST00000433097,;RAP1A,intron_variant,,ENST00000356415,;,regulatory_region_variant,,ENSR00000011398,; G ENSG00000116473 ENST00000369709 Transcript splice_region_variant,intron_variant rs1184050163 1 1 RAP1A HGNC HGNC:9855 protein_coding YES CCDS840.1 ENSP00000358723 P62834 A8KAH9 UPI0000001250 NM_001291896.1,NM_001010935.2,NM_002884.3 1/7 LOW 1 SNV 1 1 PASS GTA . . 111619940 FAM136A . GRCh38 chr2 70297444 70297444 + Missense_Mutation SNP C C G rs75086964 7316-186 BS_WCAMS5WN C C c.262G>C p.Asp88His p.D88H ENST00000037869 3/3 65 55 10 50 49 1 FAM136A,missense_variant,p.Asp88His,ENST00000037869,NM_032822.2;FAM136A,missense_variant,p.Asp195His,ENST00000430566,;FAM136A,missense_variant,p.Asp158His,ENST00000438759,;SNRPG,upstream_gene_variant,,ENST00000272348,NM_003096.3,NM_001317166.1,NM_001317171.1;SNRPG,upstream_gene_variant,,ENST00000413456,NM_001317167.1;SNRPG,upstream_gene_variant,,ENST00000438261,NM_001317169.1;SNRPG,upstream_gene_variant,,ENST00000449935,;SNRPG,upstream_gene_variant,,ENST00000454893,NM_001317165.1;SNRPG,upstream_gene_variant,,ENST00000482975,NM_001317168.1;AC022201.2,upstream_gene_variant,,ENST00000445084,;SNRPG,upstream_gene_variant,,ENST00000429728,;FAM136A,3_prime_UTR_variant,,ENST00000450256,;FAM136A,non_coding_transcript_exon_variant,,ENST00000460307,;SNRPG,upstream_gene_variant,,ENST00000480370,;SNRPG,upstream_gene_variant,,ENST00000488400,;FAM136A,downstream_gene_variant,,ENST00000498665,; G ENSG00000035141 ENST00000037869 Transcript missense_variant 341/1810 262/417 88/138 D/H Gac/Cac rs75086964,COSM4592673 1 -1 FAM136A HGNC HGNC:25911 protein_coding YES CCDS1904.1 ENSP00000037869 Q96C01 UPI000006D92A NM_032822.2 deleterious(0) probably_damaging(0.993) 3/3 Gene3D:1.10.287.810,Pfam_domain:PF05811,hmmpanther:PTHR21096 0,1 MODERATE 1 SNV 1 0,1 PASS TCG . . 0.002771 0.0006301 0.007463 0.004166 0.001574 0.0008786 0.002473 0.002954 0.001916 70297444 HS6ST1 . GRCh38 chr2 128268653 128268653 + Missense_Mutation SNP G G T rs3958533 7316-186 BS_WCAMS5WN G G c.745C>A p.Arg249Ser p.R249S ENST00000259241 2/2 69 49 16 52 51 1 HS6ST1,missense_variant,p.Arg249Ser,ENST00000259241,NM_004807.2;HS6ST1,intron_variant,,ENST00000469019,;HS6ST1,downstream_gene_variant,,ENST00000463963,; T ENSG00000136720 ENST00000259241 Transcript missense_variant 759/3932 745/1236 249/411 R/S Cgc/Agc rs3958533,COSM228870 1 -1 HS6ST1 HGNC HGNC:5201 protein_coding YES CCDS42748.1 ENSP00000259241 O60243 UPI0000D61231 NM_004807.2 deleterious(0) probably_damaging(0.995) 2/2 Gene3D:3.40.50.300,Pfam_domain:PF03567,hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF1,Superfamily_domains:SSF52540 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGG . . 0.1439 0.05174 0.07216 0.05941 0.1221 0.3278 0.1951 0.1123 0.03794 128268653 DIS3L2 . GRCh38 chr2 232087485 232087485 + Splice_Site SNP A A T novel 7316-186 BS_WCAMS5WN A A c.367-2A>T p.X123_splice ENST00000325385 75 66 6 40 39 0 DIS3L2,splice_acceptor_variant,,ENST00000273009,NM_001257281.1;DIS3L2,splice_acceptor_variant,,ENST00000325385,NM_152383.4;DIS3L2,splice_acceptor_variant,,ENST00000409307,;DIS3L2,splice_acceptor_variant,,ENST00000409401,NM_001257282.1;DIS3L2,splice_acceptor_variant,,ENST00000441279,;DIS3L2,splice_acceptor_variant,,ENST00000470087,;DIS3L2,splice_acceptor_variant,,ENST00000390005,;DIS3L2,splice_acceptor_variant,,ENST00000433430,;DIS3L2,splice_acceptor_variant,,ENST00000445090,;DIS3L2,splice_acceptor_variant,,ENST00000464554,; T ENSG00000144535 ENST00000325385 Transcript splice_acceptor_variant 1 1 DIS3L2 HGNC HGNC:28648 protein_coding YES CCDS42834.1 ENSP00000315569 Q8IYB7 UPI000004BF03 NM_152383.4 5/20 HIGH 1 SNV 5 1 PASS TAG . . 232087485 ZNF717 . GRCh38 chr3 75736922 75736922 + Missense_Mutation SNP C C G rs78323638 7316-186 BS_WCAMS5WN C C c.2551G>C p.Glu851Gln p.E851Q ENST00000478296 4/4 127 71 51 53 45 5 ZNF717,missense_variant,p.Glu851Gln,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; G ENSG00000227124 ENST00000478296 Transcript missense_variant 2828/3875 2551/2595 851/864 E/Q Gag/Cag rs78323638,COSM4158360,COSM4158359 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(0.07) benign(0.04) 4/4 hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS TCA . . 0.04266 0.004128 0.08609 0.01228 0.04086 0.02645 0.02114 0.0686 0.1063 75736922 MUC4 . GRCh38 chr3 195780322 195780322 + Missense_Mutation SNP G G A rs201474621 7316-186 BS_WCAMS5WN G G c.11258C>T p.Ala3753Val p.A3753V ENST00000463781 2/25 96 63 25 28 24 1 MUC4,missense_variant,p.Ala3753Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3753Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3753Val,ENST00000478156,;MUC4,missense_variant,p.Ala3753Val,ENST00000466475,;MUC4,missense_variant,p.Ala3753Val,ENST00000477756,;MUC4,missense_variant,p.Ala3753Val,ENST00000477086,;MUC4,missense_variant,p.Ala3753Val,ENST00000480843,;MUC4,missense_variant,p.Ala3753Val,ENST00000462323,;MUC4,missense_variant,p.Ala3753Val,ENST00000470451,;MUC4,missense_variant,p.Ala3753Val,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 11718/17110 11258/16239 3753/5412 A/V gCa/gTa rs201474621,COSM1617358 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(1) benign(0.01) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TGC . . 195780322 UTP3 . GRCh38 chr4 70688903 70688905 + In_Frame_Del DEL GAG GAG - rs755337670 7316-186 BS_WCAMS5WN GAG GAG c.242_244del p.Glu81del p.E81del ENST00000254803 1/1 73 60 5 34 27 0 UTP3,inframe_deletion,p.Glu81del,ENST00000254803,NM_020368.2;ENAM,downstream_gene_variant,,ENST00000472903,;,regulatory_region_variant,,ENSR00000169007,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0528.1,; - ENSG00000132467 ENST00000254803 Transcript inframe_deletion 425-427/2073 226-228/1440 76/479 E/- GAG/- rs755337670,TMP_ESP_4_71554620_71554625,COSM1486074 1 1 UTP3 HGNC HGNC:24477 protein_coding YES CCDS3546.1 ENSP00000254803 Q9NQZ2 UPI0000073D63 NM_020368.2 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13237:SF8,hmmpanther:PTHR13237 0.0429 0.04362 0,0,1 MODERATE 1 deletion 16 0,0,1 PASS GCGAGG . . 0.002575 0.001419 0.003883 0.004967 0.0007508 0.001511 0.002411 0.001312 0.003824 70688902 KMT2C . GRCh38 chr7 152265083 152265083 + Missense_Mutation SNP C C A rs138908625 7316-186 BS_WCAMS5WN C C c.1139G>T p.Arg380Leu p.R380L ENST00000262189 8/59 142 127 14 54 53 0 KMT2C,missense_variant,p.Arg380Leu,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Arg380Leu,ENST00000355193,;KMT2C,missense_variant,p.Arg380Leu,ENST00000558084,; A ENSG00000055609 ENST00000262189 Transcript missense_variant 1358/16862 1139/14736 380/4911 R/L cGt/cTt rs138908625,COSM5710466,COSM5710465,COSM225886,COSM225885 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 tolerated(0.11) probably_damaging(0.987) 8/59 Gene3D:3.30.40.10,PROSITE_profiles:PS50016,PROSITE_profiles:PS50089,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903,cd15509 0.006582 0.001744 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 1 PASS ACG . . 0.001508 0.003917 0.0006909 0.0002147 0.0001203 0.001381 0.001299 0.001195 0.003648 152265083 SLC35G5 . GRCh38 chr8 11332082 11332082 + Missense_Mutation SNP C C T rs62488717 7316-186 BS_WCAMS5WN C C c.976C>T p.Arg326Trp p.R326W ENST00000382435 1/1 77 61 11 39 38 0 SLC35G5,missense_variant,p.Arg326Trp,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; T ENSG00000177710 ENST00000382435 Transcript missense_variant 1195/1321 976/1017 326/338 R/W Cgg/Tgg rs62488717,COSM3718698 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.17) benign(0) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481,Transmembrane_helices:TMhelix 0,1 MODERATE SNV 0,1 PASS CCG . . 0.2934 0.1711 0.2975 0.3221 0.2793 0.3895 0.2956 0.2607 0.2856 11332082 CRISPLD2 . GRCh38 chr16 84873914 84873914 + Splice_Region SNP A A T rs1337389312 7316-186 BS_WCAMS5WN A A c.1113-6A>T ENST00000262424 66 49 6 42 38 0 CRISPLD2,splice_region_variant,,ENST00000262424,NM_031476.3;CRISPLD2,splice_region_variant,,ENST00000564567,;CRISPLD2,splice_region_variant,,ENST00000567845,;CRISPLD2,downstream_gene_variant,,ENST00000563066,;CRISPLD2,downstream_gene_variant,,ENST00000569262,; T ENSG00000103196 ENST00000262424 Transcript splice_region_variant,intron_variant rs1337389312 1 1 CRISPLD2 HGNC HGNC:25248 protein_coding YES CCDS10949.1 ENSP00000262424 Q9H0B8 A0A140VK80 UPI00000411B0 NM_031476.3 10/14 LOW 1 SNV 1 PASS TAA . . 0.0001374 0.0001752 0.0003223 0.0003094 0.0001282 84873914 SPEM3 . GRCh38 chr17 7429217 7429217 + Missense_Mutation SNP C C T rs375018329 7316-186 BS_WCAMS5WN C C c.166C>T p.Arg56Trp p.R56W ENST00000636696 2/3 50 45 5 32 32 0 SPEM3,missense_variant,p.Arg56Trp,ENST00000636696,;SPEM2,downstream_gene_variant,,ENST00000333870,NM_175734.4;SPEM2,downstream_gene_variant,,ENST00000574034,;AC113189.2,intron_variant,,ENST00000575310,; T ENSG00000283439 ENST00000636696 Transcript missense_variant 206/3631 166/3591 56/1196 R/W Cgg/Tgg rs375018329 1 1 SPEM3 HGNC HGNC:53651 protein_coding YES ENSP00000490274 A0A1B0GUW6 UPI0005D03922 deleterious_low_confidence(0) probably_damaging(0.994) 2/3 Pfam_domain:PF15670,hmmpanther:PTHR34834 MODERATE SNV 5 PASS GCG . . 7429217 RLIM . GRCh38 chrX 74591904 74591904 + Missense_Mutation SNP A A G rs201164156 7316-186 BS_WCAMS5WN A A c.1411T>C p.Ser471Pro p.S471P ENST00000332687 4/4 80 71 7 45 44 0 RLIM,missense_variant,p.Ser471Pro,ENST00000332687,NM_016120.3;RLIM,missense_variant,p.Ser471Pro,ENST00000349225,NM_183353.2; G ENSG00000131263 ENST00000332687 Transcript missense_variant 1630/8317 1411/1875 471/624 S/P Tca/Cca rs201164156,COSM2155575 1 -1 RLIM HGNC HGNC:13429 protein_coding YES CCDS14427.1 ENSP00000328059 Q9NVW2 UPI000006FD6A NM_016120.3 tolerated(0.26) benign(0.1) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14155:SF3,hmmpanther:PTHR14155 0,1 MODERATE 1 SNV 1 0,1 1 PASS GAA . . 0.02121 0.00867 0.0242 0.05187 0.006192 0.02555 0.02201 0.03095 0.01626 74591904 VMA21 . GRCh38 chrX 151404952 151404952 + Missense_Mutation SNP A A T novel 7316-186 BS_WCAMS5WN A A c.200A>T p.Tyr67Phe p.Y67F ENST00000330374 3/3 84 72 6 39 38 0 VMA21,missense_variant,p.Tyr67Phe,ENST00000330374,NM_001017980.3;VMA21,missense_variant,p.Tyr122Phe,ENST00000370361,;VMA21,non_coding_transcript_exon_variant,,ENST00000477649,; T ENSG00000160131 ENST00000330374 Transcript missense_variant 305/4717 200/306 67/101 Y/F tAc/tTc 1 1 VMA21 HGNC HGNC:22082 protein_coding YES CCDS35430.1 ENSP00000333255 Q3ZAQ7 UPI00000467E2 NM_001017980.3 deleterious(0.01) probably_damaging(0.983) 3/3 HAMAP:MF_03058,Pfam_domain:PF09446,hmmpanther:PTHR31792,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS TAC . . 151404952 ATAD3B . GRCh38 chr1 1495785 1495785 + Missense_Mutation SNP C C T rs9792879 7316-206 BS_P52FTQNA C C c.1915C>T p.Pro639Ser p.P639S ENST00000308647 16/16 52 41 9 28 28 0 ATAD3B,missense_variant,p.Pro639Ser,ENST00000308647,NM_001317238.1,NM_031921.5;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000485748,; T ENSG00000160072 ENST00000308647 Transcript missense_variant 2031/2448 1915/1947 639/648 P/S Ccg/Tcg rs9792879,COSM226436 1 1 ATAD3B HGNC HGNC:24007 protein_coding YES CCDS30.1 ENSP00000311766 Q5T9A4 UPI000013E044 NM_001317238.1,NM_031921.5 tolerated_low_confidence(0.34) benign(0.001) 16/16 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 0.1787 0.3339 0.1321 0.07124 0.4117 0.2373 0.1309 0.1347 0.2306 1495785 PRAMEF19 . GRCh38 chr1 13371223 13371223 + Missense_Mutation SNP A A G rs879250200 7316-206 BS_P52FTQNA A A c.85T>C p.Trp29Arg p.W29R ENST00000376101 2/3 57 41 16 44 42 1 PRAMEF19,missense_variant,p.Trp29Arg,ENST00000376101,NM_001099790.2; G ENSG00000204480 ENST00000376101 Transcript missense_variant 85/1233 85/1233 29/410 W/R Tgg/Cgg rs879250200 1 -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8 UPI0001661E5E NM_001099790.2 deleterious(0.04) benign(0.007) 2/3 PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF76 MODERATE 1 SNV 5 PASS CAC . . 13371223 CLCNKB . GRCh38 chr1 16050868 16050868 + Splice_Region SNP G G A rs185451420 7316-206 BS_P52FTQNA G G c.1054-7G>A ENST00000375679 41 33 6 31 30 0 CLCNKB,splice_region_variant,,ENST00000375667,NM_001165945.2;CLCNKB,splice_region_variant,,ENST00000375679,NM_000085.4;CLCNKB,splice_region_variant,,ENST00000619181,;CLCNKB,upstream_gene_variant,,ENST00000431772,; A ENSG00000184908 ENST00000375679 Transcript splice_region_variant,intron_variant rs185451420,COSM4994375,COSM4994374 1 1 CLCNKB HGNC HGNC:2027 protein_coding YES CCDS168.1 ENSP00000364831 P51801 UPI000040E261 NM_000085.4 11/19 0,1,1 LOW 1 SNV 1 0,1,1 1 PASS CGC . . 0.04279 0.04124 0.01364 0.02118 0.0008138 0.08128 0.05923 0.03897 0.02298 16050868 NBPF11 . GRCh38 chr1 148125000 148125000 + Missense_Mutation SNP C C G rs78214734 7316-206 BS_P52FTQNA C C c.177G>C p.Lys59Asn p.K59N ENST00000615281 6/24 36 28 8 34 34 0 NBPF11,missense_variant,p.Lys59Asn,ENST00000615281,NM_183372.5;NBPF11,missense_variant,p.Lys59Asn,ENST00000614015,NM_001101663.4;NBPF11,intron_variant,,ENST00000613531,;NBPF11,intron_variant,,ENST00000614785,;NBPF11,intron_variant,,ENST00000614506,;PFN1P4,upstream_gene_variant,,ENST00000450970,; G ENSG00000263956 ENST00000615281 Transcript missense_variant,splice_region_variant 1328/5494 177/2598 59/865 K/N aaG/aaC rs78214734 1 -1 NBPF11 HGNC HGNC:31993 protein_coding YES CCDS41381.2 ENSP00000477509 Q86T75 UPI0000198783 NM_183372.5 tolerated(0.09) benign(0.005) 6/24 hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF28,Gene3D:3.20.20.140 MODERATE 1 SNV 1 PASS ACT . . 148125000 FLG . GRCh38 chr1 152311948 152311948 + Missense_Mutation SNP G G C rs12756586 7316-206 BS_P52FTQNA G G c.2938C>G p.His980Asp p.H980D ENST00000368799 3/3 41 35 6 33 33 0 FLG,missense_variant,p.His980Asp,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,; C ENSG00000143631 ENST00000368799 Transcript missense_variant 2974/12747 2938/12186 980/4061 H/D Cat/Gat rs12756586,COSM4595641 1 -1 FLG HGNC HGNC:3748 protein_coding YES CCDS30860.1 ENSP00000357789 P20930 UPI0000470CB3 NM_002016.1 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF45 0.0339 0.0325 0.0216 0.0238 0.0278 0.0613 benign 0,1 29281699 MODERATE 1 SNV 1 0,1 1 PASS TGT . . 0.02356 0.0153 0.01401 0.02326 0.01944 0.007803 0.02244 0.02264 0.05606 152311948 AQP10 . GRCh38 chr1 154321988 154321988 + Missense_Mutation SNP A A G rs201824170 7316-206 BS_P52FTQNA A A c.161A>G p.Asn54Ser p.N54S ENST00000324978 2/6 32 21 10 31 31 0 AQP10,missense_variant,p.Asn54Ser,ENST00000484864,;AQP10,missense_variant,p.Asn54Ser,ENST00000324978,NM_080429.2;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;AQP10,intron_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,; G ENSG00000143595 ENST00000324978 Transcript missense_variant 201/1791 161/906 54/301 N/S aAc/aGc rs201824170,COSM4221976,COSM1736667 1 1 AQP10 HGNC HGNC:16029 protein_coding YES CCDS1065.1 ENSP00000318355 Q96PS8 UPI000007028A NM_080429.2 tolerated(0.5) possibly_damaging(0.6) 2/6 Gene3D:1.20.1080.10,Pfam_domain:PF00230,hmmpanther:PTHR43829,hmmpanther:PTHR43829:SF13,Superfamily_domains:SSF81338,TIGRFAM_domain:TIGR00861,cd00333 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAC . . 0.01164 0.01481 0.007159 0.01139 0.002891 0.01945 0.01427 0.009133 0.007581 154321988 IGFN1 . GRCh38 chr1 201209940 201209940 + Missense_Mutation SNP G G A rs199816935 7316-206 BS_P52FTQNA G G c.5047G>A p.Gly1683Arg p.G1683R ENST00000335211 12/24 30 22 7 26 23 0 IGFN1,missense_variant,p.Gly1683Arg,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; A ENSG00000163395 ENST00000335211 Transcript missense_variant 5177/11810 5047/11127 1683/3708 G/R Gga/Aga rs199816935,COSM4595087 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated_low_confidence(0.12) unknown(0) 12/24 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 0.000975 0.007515 0.001579 0.0001391 0.0003258 0.000876 0.0003519 0.000106 201209940 KDM5B . GRCh38 chr1 202766507 202766507 + Splice_Region DEL A A - rs764735197 7316-206 BS_P52FTQNA A A c.712-3del ENST00000367264 37 22 7 32 28 0 KDM5B,splice_region_variant,,ENST00000367264,NM_001314042.1;KDM5B,intron_variant,,ENST00000235790,;KDM5B,intron_variant,,ENST00000367265,NM_006618.4;KDM5B,downstream_gene_variant,,ENST00000602511,;AC098934.3,downstream_gene_variant,,ENST00000430450,; - ENSG00000117139 ENST00000367264 Transcript splice_region_variant,intron_variant rs764735197 1 -1 KDM5B HGNC HGNC:18039 protein_coding YES CCDS81417.1 ENSP00000356233 Q9UGL1 UPI00001AE68F NM_001314042.1 5/27 LOW 1 deletion 1 1 PASS CTAA . . 0.3558 0.3041 0.3487 0.3662 0.3371 0.3805 0.3628 0.3642 0.3588 202766506 CCDC150 . GRCh38 chr2 196666795 196666795 + Frame_Shift_Del DEL A A - rs376590781 7316-206 BS_P52FTQNA A A c.849del p.Glu284LysfsTer14 p.E284Kfs*14 ENST00000389175 7/28 56 46 7 40 36 0 CCDC150,frameshift_variant,p.Glu284LysfsTer14,ENST00000389175,NM_001080539.1;CCDC150,intron_variant,,ENST00000495513,;CCDC150,intron_variant,,ENST00000498512,;CCDC150,non_coding_transcript_exon_variant,,ENST00000471546,;CCDC150,intron_variant,,ENST00000431807,NM_001353339.1; - ENSG00000144395 ENST00000389175 Transcript frameshift_variant 974/3685 839/3306 280/1101 Q/X cAa/ca rs376590781,TMP_ESP_2_197531519_197531519,COSM1404233 1 1 CCDC150 HGNC HGNC:26834 protein_coding YES CCDS46478.1 ENSP00000373827 Q8NCX0 UPI0000DD7A7C NM_001080539.1 7/28 Gene3D:1.20.1170.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR35352,Low_complexity_(Seg):seg 0.05871 0.04626 0,0,1 HIGH 1 deletion 5 10 0,0,1 PASS ACAA . . 0.1034 0.1089 0.1548 0.1386 0.1041 0.04117 0.09364 0.133 0.1362 196666794 PRRT3 . GRCh38 chr3 9950174 9950175 + Splice_Region INS - - A rs1443086351 7316-206 BS_P52FTQNA - - c.-57-3dup ENST00000412055 57 46 8 29 25 0 PRRT3,splice_region_variant,,ENST00000411976,NM_001318871.1;PRRT3,splice_region_variant,,ENST00000412055,NM_207351.4;CRELD1,downstream_gene_variant,,ENST00000383811,NM_015513.4;PRRT3-AS1,intron_variant,,ENST00000431558,;PRRT3,splice_region_variant,,ENST00000295984,; A ENSG00000163704 ENST00000412055 Transcript splice_region_variant,intron_variant rs1443086351 1 -1 PRRT3 HGNC HGNC:26591 protein_coding YES CCDS43049.1 ENSP00000392511 Q5FWE3 UPI000019962A NM_207351.4 1/3 LOW 1 insertion 1 PASS CTA . . 9950174 OTOP1 . GRCh38 chr4 4226555 4226555 + Missense_Mutation SNP G G T rs200554408 7316-206 BS_P52FTQNA G G c.310C>A p.Leu104Met p.L104M ENST00000296358 1/6 47 34 13 41 40 1 OTOP1,missense_variant,p.Leu104Met,ENST00000296358,NM_177998.1;,regulatory_region_variant,,ENSR00000165188,; T ENSG00000163982 ENST00000296358 Transcript missense_variant 335/1864 310/1839 104/612 L/M Ctg/Atg rs200554408 1 -1 OTOP1 HGNC HGNC:19656 protein_coding YES CCDS3372.1 ENSP00000296358 Q7RTM1 UPI0000186945 NM_177998.1 deleterious(0.04) benign(0.142) 1/6 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19 MODERATE 1 SNV 1 PASS AGC . . 2.288e-05 5.398e-05 4226555 AC021192.1 . GRCh38 chr4 83674825 83674825 + Splice_Region DEL A A - rs1400489425 7316-206 BS_P52FTQNA A A n.219-8del ENST00000510169 38 24 7 45 40 0 AC021192.1,splice_region_variant,,ENST00000510169,; - ENSG00000249171 ENST00000510169 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1400489425 1 -1 AC021192.1 Clone_based_ensembl_gene lincRNA YES 1/3 LOW 1 deletion 3 PASS TCAA . . 83674824 SLC9B1 . GRCh38 chr4 102905600 102905600 + Missense_Mutation SNP T T C rs879081874 7316-206 BS_P52FTQNA T T c.1246A>G p.Thr416Ala p.T416A ENST00000296422 11/12 44 31 12 40 38 0 SLC9B1,missense_variant,p.Thr416Ala,ENST00000296422,NM_139173.3;SLC9B1,missense_variant,p.Thr416Ala,ENST00000394789,NM_001100874.2;SLC9B1,downstream_gene_variant,,ENST00000511253,;SLC9B1,intron_variant,,ENST00000509614,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,downstream_gene_variant,,ENST00000510243,; C ENSG00000164037 ENST00000296422 Transcript missense_variant 1388/1879 1246/1548 416/515 T/A Aca/Gca rs879081874,COSM3733506 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 deleterious(0.05) benign(0.246) 11/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.0001455 0.0006806 0.0001849 0.0001027 0.0003015 9.131e-05 9.977e-05 102905600 SLC9B1 . GRCh38 chr4 102905612 102905612 + Nonsense_Mutation SNP G G A rs200075071 7316-206 BS_P52FTQNA G G c.1234C>T p.Arg412Ter p.R412* ENST00000296422 11/12 40 28 11 39 37 0 SLC9B1,stop_gained,p.Arg412Ter,ENST00000296422,NM_139173.3;SLC9B1,stop_gained,p.Arg412Ter,ENST00000394789,NM_001100874.2;SLC9B1,downstream_gene_variant,,ENST00000511253,;SLC9B1,intron_variant,,ENST00000509614,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,downstream_gene_variant,,ENST00000510243,; A ENSG00000164037 ENST00000296422 Transcript stop_gained 1376/1879 1234/1548 412/515 R/* Cga/Tga rs200075071,COSM3733507 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 11/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 HIGH 1 SNV 1 0,1 PASS CGA . . 0.0001579 0.0005428 0.0001234 0.0001026 0.0004213 4.504e-05 0.0001369 6.662e-05 102905612 SLC9B1 . GRCh38 chr4 102905656 102905656 + Splice_Region SNP A A G rs879245359 7316-206 BS_P52FTQNA A A c.1196-6T>C ENST00000296422 31 23 8 43 41 0 SLC9B1,splice_region_variant,,ENST00000296422,NM_139173.3;SLC9B1,splice_region_variant,,ENST00000394789,NM_001100874.2;SLC9B1,downstream_gene_variant,,ENST00000511253,;SLC9B1,intron_variant,,ENST00000509614,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,splice_region_variant,,ENST00000503584,;SLC9B1,splice_region_variant,,ENST00000504216,;SLC9B1,splice_region_variant,,ENST00000514972,;SLC9B1,downstream_gene_variant,,ENST00000510243,; G ENSG00000164037 ENST00000296422 Transcript splice_region_variant,intron_variant rs879245359,COSM5907327 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 10/11 0,1 LOW 1 SNV 1 0,1 PASS AAC . . 6.063e-05 0.0002748 0.0001379 6.136e-05 9.33e-06 0.0001945 0.0001103 102905656 SLC9B1 . GRCh38 chr4 102911454 102911454 + Nonsense_Mutation SNP G G A rs75599926 7316-206 BS_P52FTQNA G G c.913C>T p.Arg305Ter p.R305* ENST00000296422 8/12 43 35 7 42 42 0 SLC9B1,stop_gained,p.Arg305Ter,ENST00000296422,NM_139173.3;SLC9B1,stop_gained,p.Arg305Ter,ENST00000394789,NM_001100874.2;SLC9B1,stop_gained,p.Arg248Ter,ENST00000514340,;SLC9B1,stop_gained,p.Arg30Ter,ENST00000511253,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,upstream_gene_variant,,ENST00000509614,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,3_prime_UTR_variant,,ENST00000510243,; A ENSG00000164037 ENST00000296422 Transcript stop_gained 1055/1879 913/1548 305/515 R/* Cga/Tga rs75599926,COSM4158717 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 8/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 HIGH 1 SNV 1 0,1 PASS CGA . . 0.02514 0.01757 0.02884 0.01827 0.02377 0.01651 0.02874 0.01667 0.02071 102911454 SLC9B1 . GRCh38 chr4 102911508 102911508 + Missense_Mutation SNP T T C rs201645894 7316-206 BS_P52FTQNA T T c.859A>G p.Ile287Val p.I287V ENST00000296422 8/12 53 45 8 37 36 0 SLC9B1,missense_variant,p.Ile287Val,ENST00000296422,NM_139173.3;SLC9B1,missense_variant,p.Ile287Val,ENST00000394789,NM_001100874.2;SLC9B1,missense_variant,p.Ile230Val,ENST00000514340,;SLC9B1,missense_variant,p.Ile12Val,ENST00000511253,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,upstream_gene_variant,,ENST00000509614,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,3_prime_UTR_variant,,ENST00000510243,; C ENSG00000164037 ENST00000296422 Transcript missense_variant 1001/1879 859/1548 287/515 I/V Ata/Gta rs201645894,COSM1315921 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 tolerated(1) benign(0.01) 8/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5 0,1 MODERATE 1 SNV 1 0,1 PASS ATA . . 0.002001 0.0007524 0.003332 0.001846 0.001948 0.0007193 0.002119 0.0006372 0.001677 102911508 NIPBL . GRCh38 chr5 36985425 36985426 + Frame_Shift_Ins INS - - A novel 7316-206 BS_P52FTQNA - - c.2252dup p.Asn751LysfsTer2 p.N751Kfs*2 ENST00000282516 10/47 36 21 12 42 41 0 NIPBL,frameshift_variant,p.Asn751LysfsTer2,ENST00000282516,NM_133433.3;NIPBL,frameshift_variant,p.Asn751LysfsTer2,ENST00000448238,NM_015384.4;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,; A ENSG00000164190 ENST00000282516 Transcript frameshift_variant 2744-2745/10435 2245-2246/8415 749/2804 Q/QX caa/cAaa 1 1 NIPBL HGNC HGNC:28862 protein_coding YES CCDS3920.1 ENSP00000282516 Q6KC79 UPI00003761B5 NM_133433.3 10/47 mobidb-lite,hmmpanther:PTHR21704:SF18,hmmpanther:PTHR21704 HIGH 1 insertion 1 7 1 PASS GCA . . 36985425 VCAN . GRCh38 chr5 83538480 83538480 + Missense_Mutation SNP G G A rs188703 7316-206 BS_P52FTQNA G G c.5477G>A p.Arg1826His p.R1826H ENST00000265077 8/15 38 14 24 29 27 2 VCAN,missense_variant,p.Arg1826His,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Arg839His,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Arg839His,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,intron_variant,,ENST00000512590,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,; A ENSG00000038427 ENST00000265077 Transcript missense_variant 6042/12625 5477/10191 1826/3396 R/H cGt/cAt rs188703,CM100488,COSM4407162 1 1 VCAN HGNC HGNC:2464 protein_coding YES CCDS4060.1 ENSP00000265077 P13611 A0A024RAQ9 UPI000013178B NM_004385.4 tolerated(0.16) benign(0.035) 8/15 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6 0.3584 0.3449 0.4611 0.3234 0.4254 0.271 0.3516 0.4001 benign 0,0,1 25741868,21146954,19655167,25606449 MODERATE 1 SNV 1 1,1,1 1 PASS CGT . . 0.3836 0.3487 0.457 0.483 0.3447 0.3898 0.3921 0.3988 0.2732 83538480 PCDHB11 . GRCh38 chr5 141201368 141201368 + Missense_Mutation SNP G G A rs138686663 7316-206 BS_P52FTQNA G G c.1594G>A p.Gly532Ser p.G532S ENST00000354757 1/1 54 38 13 28 27 0 PCDHB11,missense_variant,p.Gly532Ser,ENST00000354757,NM_018931.2;PCDHB11,missense_variant,p.Gly167Ser,ENST00000624887,;AC244517.4,non_coding_transcript_exon_variant,,ENST00000624549,;AC244517.11,intron_variant,,ENST00000624192,;,regulatory_region_variant,,ENSR00000317583,; A ENSG00000197479 ENST00000354757 Transcript missense_variant 1787/4198 1594/2394 532/797 G/S Ggc/Agc rs138686663,COSM222473 1 1 PCDHB11 HGNC HGNC:8682 protein_coding YES CCDS4253.1 ENSP00000346802 Q9Y5F2 UPI00001273E6 NM_018931.2 deleterious_low_confidence(0.03) benign(0.327) 1/1 Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313,cd11304 0,1 MODERATE SNV 0,1 PASS GGG . . 0.001896 0.00378 0.001309 0.001033 0.0001749 0.008249 0.001476 0.001316 3.278e-05 141201368 ZNF655 . GRCh38 chr7 99572937 99572938 + Frame_Shift_Del DEL TG TG - rs758185025 7316-206 BS_P52FTQNA TG TG c.936_937del p.Cys312Ter p.C312* ENST00000424881 4/4 51 44 6 27 27 0 ZNF655,frameshift_variant,p.Cys312Ter,ENST00000424881,NM_001085368.1;ZNF655,frameshift_variant,p.Cys277Ter,ENST00000394163,NM_001009960.1;ZNF655,frameshift_variant,p.Cys277Ter,ENST00000252713,NM_138494.2;ZNF655,frameshift_variant,p.Cys312Ter,ENST00000493277,NM_001083956.1;ZNF655,3_prime_UTR_variant,,ENST00000425063,;ZNF655,downstream_gene_variant,,ENST00000422164,;ZNF655,downstream_gene_variant,,ENST00000422647,;ZNF655,downstream_gene_variant,,ENST00000427931,;ZNF655,downstream_gene_variant,,ENST00000449244,;ZNF655,downstream_gene_variant,,ENST00000454654,;ZNF655,downstream_gene_variant,,ENST00000626122,;ZNF655,non_coding_transcript_exon_variant,,ENST00000419215,;ZNF655,non_coding_transcript_exon_variant,,ENST00000494357,;AC005020.2,intron_variant,,ENST00000455905,;ZNF655,downstream_gene_variant,,ENST00000412636,;ZNF655,downstream_gene_variant,,ENST00000493947,; - ENSG00000197343 ENST00000424881 Transcript frameshift_variant 1154-1155/4666 934-935/1581 312/526 C/X TGt/t rs758185025 1 1 ZNF655 HGNC HGNC:30899 protein_coding YES CCDS47655.1 ENSP00000393876 Q8N720 UPI000020F66D NM_001085368.1 4/4 Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF284 HIGH 1 deletion 2 2 PASS CCTGT . . 99572936 MUC3A . GRCh38 chr7 100956487 100956487 + Missense_Mutation SNP G G A rs1483772112 7316-206 BS_P52FTQNA G G c.4708G>A p.Gly1570Ser p.G1570S ENST00000379458 2/12 77 30 9 73 34 0 MUC3A,missense_variant,p.Gly1570Ser,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Gly1570Ser,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,; A ENSG00000169894 ENST00000379458 Transcript missense_variant 4778/11226 4708/9972 1570/3323 G/S Ggt/Agt rs1483772112 1 1 MUC3A HGNC HGNC:7513 protein_coding YES CCDS78262.1 ENSP00000368771 Q02505 UPI000455B941 NM_005960.1 tolerated_low_confidence(0.12) unknown(0) 2/12 hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AGG . . 100956487 LYZL2 . GRCh38 chr10 30629668 30629668 + Missense_Mutation SNP T T C rs74551644 7316-206 BS_P52FTQNA T T c.38A>G p.Lys13Arg p.K13R ENST00000375318 1/5 33 28 5 27 27 0 LYZL2,missense_variant,p.Lys13Arg,ENST00000375318,NM_183058.2; C ENSG00000151033 ENST00000375318 Transcript missense_variant 95/818 38/585 13/194 K/R aAg/aGg rs74551644,COSM1128069 1 -1 LYZL2 HGNC HGNC:29613 protein_coding YES CCDS7167.2 ENSP00000364467 Q7Z4W2 A0A080YUZ9 UPI0000160E06 NM_183058.2 deleterious_low_confidence(0.05) probably_damaging(0.981) 1/5 0,1 MODERATE 1 SNV 1 0,1 PASS CTT . . 0.1665 0.1034 0.3008 0.1632 0.2044 0.139 0.1205 0.1709 0.2195 30629668 ABCC9 . GRCh38 chr12 21806065 21806065 + Splice_Region DEL A A - rs4148680 7316-206 BS_P52FTQNA A A c.4450-5del ENST00000261200 35 26 6 33 30 0 ABCC9,splice_region_variant,,ENST00000261200,NM_020297.3;ABCC9,splice_region_variant,,ENST00000261201,NM_005691.3;ABCC9,splice_region_variant,,ENST00000544039,; - ENSG00000069431 ENST00000261200 Transcript splice_region_variant,intron_variant rs4148680,COSM5943247,COSM5943246 1 -1 ABCC9 HGNC HGNC:60 protein_coding YES CCDS8693.1 ENSP00000261200 O60706 UPI000013D13F NM_020297.3 36/37 uncertain_significance,likely_benign 0,1,1 12166651 LOW 1 deletion 5 1,1,1 1 PASS GCAA . . 0.2916 0.3431 0.3069 0.2974 0.2929 0.2122 0.2895 0.277 0.3082 21806064 WDR89 . GRCh38 chr14 63599608 63599608 + Missense_Mutation SNP C C T rs201238690 7316-206 BS_P52FTQNA C C c.335G>A p.Gly112Asp p.G112D ENST00000394942 2/2 59 45 10 37 37 0 WDR89,missense_variant,p.Gly112Asp,ENST00000394942,NM_080666.3;WDR89,missense_variant,p.Gly112Asp,ENST00000620954,;WDR89,missense_variant,p.Gly112Asp,ENST00000267522,NM_001008726.2,NM_001258272.1;WDR89,missense_variant,p.Gly112Asp,ENST00000554717,;AL136038.2,downstream_gene_variant,,ENST00000553983,;HSPE1P2,upstream_gene_variant,,ENST00000554777,;AL136038.4,upstream_gene_variant,,ENST00000603606,; T ENSG00000140006 ENST00000394942 Transcript missense_variant 424/2993 335/1164 112/387 G/D gGt/gAt rs201238690 1 -1 WDR89 HGNC HGNC:20489 protein_coding YES CCDS9759.1 ENSP00000378399 Q96FK6 A0A024R667 UPI000000CBD9 NM_080666.3 deleterious(0) probably_damaging(0.96) 2/2 Gene3D:2.130.10.10,hmmpanther:PTHR22889,Superfamily_domains:SSF50978 MODERATE SNV 5 PASS ACC . . 4.066e-06 8.967e-06 63599608 TTLL5 . GRCh38 chr14 75779643 75779643 + Missense_Mutation SNP G G T novel 7316-206 BS_P52FTQNA G G c.2456G>T p.Gly819Val p.G819V ENST00000298832 24/32 48 34 14 33 31 0 TTLL5,missense_variant,p.Gly819Val,ENST00000298832,NM_015072.4;TTLL5,missense_variant,p.Gly833Val,ENST00000557636,;TTLL5,missense_variant,p.Gly370Val,ENST00000556893,;TTLL5,missense_variant,p.Gly328Val,ENST00000554510,;TTLL5,non_coding_transcript_exon_variant,,ENST00000555422,; T ENSG00000119685 ENST00000298832 Transcript missense_variant 2661/4683 2456/3846 819/1281 G/V gGg/gTg 1 1 TTLL5 HGNC HGNC:19963 protein_coding YES CCDS32124.1 ENSP00000298832 Q6EMB2 UPI00003FF22B NM_015072.4 deleterious(0) probably_damaging(0.999) 24/32 MODERATE 1 SNV 1 1 PASS GGG . . 75779643 IGHV2-5 . GRCh38 chr14 106038175 106038175 + Missense_Mutation SNP T T C rs541613869 7316-206 BS_P52FTQNA T T c.85A>G p.Thr29Ala p.T29A ENST00000390597 2/2 56 29 21 41 38 2 IGHV2-5,missense_variant,p.Thr29Ala,ENST00000390597,;IGHVIII-5-1,downstream_gene_variant,,ENST00000523059,; C ENSG00000211937 ENST00000390597 Transcript missense_variant 105/378 85/358 29/119 T/A Acg/Gcg rs541613869 1 -1 IGHV2-5 HGNC HGNC:5576 IG_V_gene YES ENSP00000375006 P01817 UPI00034F23B3 tolerated(0.13) benign(0) 2/2 MODERATE 1 SNV PASS GTA . . 2.06e-05 0.0001991 1.839e-05 106038175 GOLGA8R . GRCh38 chr15 30407965 30407966 + In_Frame_Ins INS - - TTG rs372647671 7316-206 BS_P52FTQNA - - c.813_814insCAA p.Gln271dup p.Q271dup ENST00000327271 11/19 90 67 15 37 34 0 GOLGA8R,inframe_insertion,p.Gln271dup,ENST00000327271,NM_001282484.1;RN7SL196P,upstream_gene_variant,,ENST00000614361,;GOLGA8R,downstream_gene_variant,,ENST00000624918,; TTG ENSG00000186399 ENST00000327271 Transcript inframe_insertion 813-814/1896 813-814/1896 271-272/631 -/Q -/CAA rs372647671 1 -1 GOLGA8R HGNC HGNC:44407 protein_coding YES CCDS61575.1 ENSP00000323217 I6L899 UPI0000DD828F NM_001282484.1 11/19 hmmpanther:PTHR10881:SF59,hmmpanther:PTHR10881,Pfam_domain:PF15070 MODERATE 1 insertion 5 PASS TCC . . 0.3085 0.1943 0.3609 0.2962 0.4794 0.1255 0.2875 0.2874 0.4324 30407965 SMARCE1 . GRCh38 chr17 40645855 40645855 + Splice_Region DEL A A - rs756987870 7316-206 BS_P52FTQNA A A c.-45-8del ENST00000348513 30 21 5 29 22 0 SMARCE1,splice_region_variant,,ENST00000264640,;SMARCE1,splice_region_variant,,ENST00000348513,NM_003079.4;SMARCE1,splice_region_variant,,ENST00000377808,;SMARCE1,splice_region_variant,,ENST00000400122,;SMARCE1,splice_region_variant,,ENST00000447024,;SMARCE1,splice_region_variant,,ENST00000474246,;SMARCE1,splice_region_variant,,ENST00000478349,;SMARCE1,splice_region_variant,,ENST00000580419,;SMARCE1,splice_region_variant,,ENST00000582955,;SMARCE1,splice_region_variant,,ENST00000642459,;SMARCE1,splice_region_variant,,ENST00000643318,;SMARCE1,splice_region_variant,,ENST00000643683,;SMARCE1,splice_region_variant,,ENST00000643806,;SMARCE1,splice_region_variant,,ENST00000644527,;SMARCE1,splice_region_variant,,ENST00000644701,;SMARCE1,splice_region_variant,,ENST00000645104,;SMARCE1,splice_region_variant,,ENST00000646283,;SMARCE1,splice_region_variant,,ENST00000647508,;SMARCE1,splice_region_variant,,ENST00000647515,;SMARCE1,intron_variant,,ENST00000431889,;SMARCE1,intron_variant,,ENST00000577721,;SMARCE1,intron_variant,,ENST00000578044,;SMARCE1,intron_variant,,ENST00000580654,;SMARCE1,upstream_gene_variant,,ENST00000646482,;AC073508.3,upstream_gene_variant,,ENST00000619697,;SMARCE1,upstream_gene_variant,,ENST00000644523,;SMARCE1,splice_region_variant,,ENST00000469334,;SMARCE1,splice_region_variant,,ENST00000481231,;SMARCE1,splice_region_variant,,ENST00000493660,;SMARCE1,splice_region_variant,,ENST00000578112,;SMARCE1,splice_region_variant,,ENST00000642576,;SMARCE1,splice_region_variant,,ENST00000643030,;AC073508.2,splice_region_variant,,ENST00000643255,;SMARCE1,splice_region_variant,,ENST00000644257,;SMARCE1,splice_region_variant,,ENST00000644909,;SMARCE1,splice_region_variant,,ENST00000645152,;SMARCE1,splice_region_variant,,ENST00000645155,;SMARCE1,splice_region_variant,,ENST00000645227,;SMARCE1,splice_region_variant,,ENST00000645663,;SMARCE1,splice_region_variant,,ENST00000646242,;SMARCE1,splice_region_variant,,ENST00000646401,;SMARCE1,splice_region_variant,,ENST00000646448,;SMARCE1,splice_region_variant,,ENST00000646856,;SMARCE1,splice_region_variant,,ENST00000647221,;SMARCE1,splice_region_variant,,ENST00000647294,;SMARCE1,splice_region_variant,,ENST00000647347,;AC073508.2,intron_variant,,ENST00000476049,;SMARCE1,upstream_gene_variant,,ENST00000645478,; - ENSG00000073584 ENST00000348513 Transcript splice_region_variant,intron_variant rs756987870,TMP_ESP_17_38802107_38802107 1 -1 SMARCE1 HGNC HGNC:11109 protein_coding YES CCDS11370.1 ENSP00000323967 Q969G3 A0A024R1S7 UPI000006FB55 NM_003079.4 1/10 0.03542 0.04441 LOW 1 deletion 1 1 PASS ATAA . . 0.008684 0.011 0.01422 0.02417 0.01099 0.001201 0.01121 0.01196 0.0157 40645854 MYO5B . GRCh38 chr18 49837547 49837547 + Missense_Mutation SNP A A G rs138128932 7316-206 BS_P52FTQNA A A c.5108T>C p.Val1703Ala p.V1703A ENST00000285039 37/40 46 37 6 42 40 0 MYO5B,missense_variant,p.Val1703Ala,ENST00000285039,NM_001080467.2;MYO5B,missense_variant,p.Val820Ala,ENST00000324581,;MYO5B,missense_variant,p.Val273Ala,ENST00000592688,;SNHG22,intron_variant,,ENST00000589499,;SNHG22,upstream_gene_variant,,ENST00000617833,;AC090227.1,missense_variant,p.Val26Ala,ENST00000590532,; G ENSG00000167306 ENST00000285039 Transcript missense_variant 5408/9505 5108/5547 1703/1848 V/A gTc/gCc rs138128932,COSM473883 1 -1 MYO5B HGNC HGNC:7603 protein_coding YES CCDS42436.1 ENSP00000285039 Q9ULV0 UPI00001D7B21 NM_001080467.2 deleterious(0.05) benign(0.012) 37/40 PROSITE_profiles:PS51126,cd15477,hmmpanther:PTHR13140:SF356,hmmpanther:PTHR13140,Pfam_domain:PF01843,SMART_domains:SM01132 0,1 27826991 MODERATE 1 SNV 1 0,1 1 PASS GAC . . 0.0003352 0.000947 6.069e-05 0.0004312 0.00048 0.0002019 0.0001447 49837547 KIR3DL2 . GRCh38 chr19 54865885 54865885 + Missense_Mutation SNP T T C rs2915987 7316-206 BS_P52FTQNA T T c.1081T>C p.Tyr361His p.Y361H ENST00000326321 7/9 32 23 8 35 35 0 KIR3DL2,missense_variant,p.Tyr361His,ENST00000326321,NM_006737.3;KIR3DL2,missense_variant,p.Tyr344His,ENST00000270442,NM_001242867.1;RNU6-222P,downstream_gene_variant,,ENST00000362438,; C ENSG00000240403 ENST00000326321 Transcript missense_variant 1114/1877 1081/1368 361/455 Y/H Tat/Cat rs2915987 1 1 KIR3DL2 HGNC HGNC:6339 protein_coding YES CCDS12906.1 ENSP00000325525 P43630 A0A0U1WNF3 UPI000012DB25 NM_006737.3 tolerated(0.94) benign(0.003) 7/9 Transmembrane_helices:TMhelix,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF124 MODERATE 1 SNV 1 PASS TTA . . 8.129e-06 5.958e-05 54865885 KIR3DL2 . GRCh38 chr19 54865908 54865908 + Splice_Region SNP G G A rs2915988 7316-206 BS_P52FTQNA G G c.1104G>A p.Lys368= p.K368= ENST00000326321 7/9 33 22 10 32 32 0 KIR3DL2,splice_region_variant,p.Lys368=,ENST00000326321,NM_006737.3;KIR3DL2,splice_region_variant,p.Lys351=,ENST00000270442,NM_001242867.1;RNU6-222P,downstream_gene_variant,,ENST00000362438,; A ENSG00000240403 ENST00000326321 Transcript splice_region_variant,synonymous_variant 1137/1877 1104/1368 368/455 K aaG/aaA rs2915988 1 1 KIR3DL2 HGNC HGNC:6339 protein_coding YES CCDS12906.1 ENSP00000325525 P43630 A0A0U1WNF3 UPI000012DB25 NM_006737.3 7/9 hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF124 0.0018 0.0068 0.007036 LOW 1 SNV 1 PASS AGA . . 0.0003954 0.005694 0.0001789 8.987e-06 0.000549 54865908 MT-ND3 . GRCh38 chrM 10197 10197 + Missense_Mutation SNP G G A rs267606891 7316-206 BS_P52FTQNA G G c.139G>A p.Ala47Thr p.A47T ENST00000361227 1/1 11244 10631 465 1573 1522 2 MT-ND3,missense_variant,p.Ala47Thr,ENST00000361227,;MT-ND4L,upstream_gene_variant,,ENST00000361335,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,upstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;,TF_binding_site_variant,,MA0337.1,; A ENSG00000198840 ENST00000361227 Transcript missense_variant 139/346 139/346 47/115 A/T Gcc/Acc rs267606891 1 1 MT-ND3 HGNC HGNC:7458 protein_coding YES ENSP00000355206 P03897 Q7GXZ5 UPI0000000AA6 deleterious_low_confidence(0.02) probably_damaging(0.999) 1/1 PDB-ENSP_mappings:5xtc.j,PDB-ENSP_mappings:5xtd.j,Pfam_domain:PF00507,hmmpanther:PTHR11058,hmmpanther:PTHR11058:SF9 pathogenic 17152068,17413873,19458970 MODERATE 1 SNV 1 1 PASS CGC . . 10197 CHD5 . GRCh38 chr1 6124668 6124668 + Splice_Region SNP T T G rs764316336 7316-944 BS_9704T3DW T T c.4395-7A>C ENST00000262450 46 33 11 24 23 1 CHD5,splice_region_variant,,ENST00000262450,NM_015557.2;CHD5,splice_region_variant,,ENST00000377999,;CHD5,splice_region_variant,,ENST00000462991,;CHD5,intron_variant,,ENST00000496404,;CHD5,downstream_gene_variant,,ENST00000491020,; G ENSG00000116254 ENST00000262450 Transcript splice_region_variant,intron_variant rs764316336,COSM5352600,COSM5352599,COSM1602595 1 -1 CHD5 HGNC HGNC:16816 protein_coding YES CCDS57.1 ENSP00000262450 Q8TDI0 UPI000006CD03 NM_015557.2 29/41 0,1,1,1 LOW 1 SNV 1 0,1,1,1 PASS GTG . . 0.3907 0.3491 0.3838 0.3994 0.3817 0.4465 0.3856 0.3972 0.3909 6124668 SPEN . GRCh38 chr1 15935976 15935976 + Missense_Mutation SNP A A C rs769360962 7316-944 BS_9704T3DW A A c.9736A>C p.Thr3246Pro p.T3246P ENST00000375759 11/15 47 36 7 24 22 0 SPEN,missense_variant,p.Thr3246Pro,ENST00000375759,NM_015001.2;SPEN,upstream_gene_variant,,ENST00000487496,; C ENSG00000065526 ENST00000375759 Transcript missense_variant 9940/12232 9736/10995 3246/3664 T/P Acc/Ccc rs769360962,COSM4142939 1 1 SPEN HGNC HGNC:17575 protein_coding YES CCDS164.1 ENSP00000364912 Q96T58 UPI000006FF0C NM_015001.2 tolerated(0.25) benign(0) 11/15 hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF48,mobidb-lite,Low_complexity_(Seg):seg benign 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAC . . 0.05216 0.04359 0.01727 0.01483 0.02934 0.1426 0.07687 0.02243 0.01768 15935976 COL24A1 . GRCh38 chr1 85775717 85775717 + Splice_Region DEL A A - rs550729519 7316-944 BS_9704T3DW A A c.4339-8del ENST00000370571 80 61 10 22 19 0 COL24A1,splice_region_variant,,ENST00000370571,NM_152890.5,NM_001349955.1;COL24A1,splice_region_variant,,ENST00000426639,; - ENSG00000171502 ENST00000370571 Transcript splice_region_variant,intron_variant rs550729519,TMP_ESP_1_86241400_86241400 1 -1 COL24A1 HGNC HGNC:20821 protein_coding YES CCDS41353.1 ENSP00000359603 Q17RW2 UPI000013E81F NM_152890.5,NM_001349955.1 52/59 0.0055 0.0053 0.0058 0.0079 0.0072 0.01711 0.02463 LOW 1 deletion 1 PASS AGAA . . 0.00338 0.001722 0.008365 0.008429 0.002959 0.001366 0.002426 0.006102 0.004011 85775716 C2orf16 . GRCh38 chr2 27581843 27581843 + Missense_Mutation SNP C C A rs200432284 7316-944 BS_9704T3DW C C c.5271C>A p.Ser1757Arg p.S1757R ENST00000408964 1/1 102 77 20 17 13 0 C2orf16,missense_variant,p.Ser5161Arg,ENST00000447166,;C2orf16,missense_variant,p.Ser1757Arg,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; A ENSG00000221843 ENST00000408964 Transcript missense_variant 5322/6200 5271/5955 1757/1984 S/R agC/agA rs200432284,COSM2940507,COSM2940506 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(0.3) benign(0.001) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg 0.0038 0.0121 0.0029 0.001 0,1,1 MODERATE SNV 0,1,1 PASS GCC . . 0.0001464 2.686e-05 0.001075 27581843 SLC4A7 . GRCh38 chr3 27404882 27404882 + Missense_Mutation SNP C C T novel 7316-944 BS_9704T3DW C C c.2023G>A p.Gly675Arg p.G675R ENST00000454389 14/26 87 79 5 36 36 0 SLC4A7,missense_variant,p.Gly651Arg,ENST00000425128,;SLC4A7,missense_variant,p.Gly666Arg,ENST00000295736,NM_003615.4;SLC4A7,missense_variant,p.Gly542Arg,ENST00000428386,NM_001258380.1;SLC4A7,missense_variant,p.Gly217Arg,ENST00000419036,;SLC4A7,missense_variant,p.Gly675Arg,ENST00000454389,NM_001321103.1;SLC4A7,missense_variant,p.Gly662Arg,ENST00000440156,NM_001321104.1;SLC4A7,missense_variant,p.Gly662Arg,ENST00000445684,NM_001321105.1;SLC4A7,missense_variant,p.Gly658Arg,ENST00000446700,NM_001321106.1;SLC4A7,missense_variant,p.Gly547Arg,ENST00000455077,NM_001321108.1,NM_001258379.1;SLC4A7,missense_variant,p.Gly547Arg,ENST00000437179,NM_001321107.1;SLC4A7,missense_variant,p.Gly562Arg,ENST00000428179,;SLC4A7,3_prime_UTR_variant,,ENST00000438530,;SLC4A7,3_prime_UTR_variant,,ENST00000457377,;SLC4A7,3_prime_UTR_variant,,ENST00000437266,;SLC4A7,upstream_gene_variant,,ENST00000475120,; T ENSG00000033867 ENST00000454389 Transcript missense_variant 2244/4159 2023/3780 675/1259 G/R Ggg/Agg 1 -1 SLC4A7 HGNC HGNC:11033 protein_coding YES CCDS82747.1 ENSP00000390394 Q9Y6M7 UPI000198C958 NM_001321103.1 deleterious(0) probably_damaging(1) 14/26 Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS CCC . . 27404882 GNAI2 . GRCh38 chr3 50257564 50257570 + Frame_Shift_Del DEL CAAAGAC CAAAGAC - rs1332272879 7316-944 BS_9704T3DW CAAAGAC CAAAGAC c.942_948del p.Lys315ProfsTer33 p.K315Pfs*33 ENST00000313601 8/9 73 64 5 43 42 0 GNAI2,frameshift_variant,p.Lys315ProfsTer33,ENST00000313601,NM_002070.3;GNAI2,frameshift_variant,p.Lys299ProfsTer33,ENST00000422163,NM_001282619.1,NM_001282620.1;GNAI2,frameshift_variant,p.Lys263ProfsTer33,ENST00000266027,NM_001282618.1,NM_001282617.1;GNAI2,frameshift_variant,p.Lys263ProfsTer33,ENST00000440628,;GNAI2,frameshift_variant,p.Lys278ProfsTer33,ENST00000451956,NM_001166425.1;U73166.1,upstream_gene_variant,,ENST00000426302,;U73166.1,upstream_gene_variant,,ENST00000439898,;U73166.1,upstream_gene_variant,,ENST00000453717,;GNAI2,non_coding_transcript_exon_variant,,ENST00000491100,;GNAI2,3_prime_UTR_variant,,ENST00000441156,;GNAI2,3_prime_UTR_variant,,ENST00000446079,;GNAI2,non_coding_transcript_exon_variant,,ENST00000490122,;GNAI2,non_coding_transcript_exon_variant,,ENST00000492383,;GNAI2,downstream_gene_variant,,ENST00000468422,; - ENSG00000114353 ENST00000313601 Transcript frameshift_variant 1326-1332/2464 942-948/1068 314-316/355 RKD/X cgCAAAGAC/cg rs1332272879 1 1 GNAI2 HGNC HGNC:4385 protein_coding YES CCDS2813.1 ENSP00000312999 P04899 UPI000000124B NM_002070.3 8/9 cd00066,hmmpanther:PTHR10218:SF73,hmmpanther:PTHR10218,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540 HIGH 1 deletion 1 1 PASS CGCAAAGACA . . 8.935e-06 3.421e-05 7.089e-05 50257563 IFT122 . GRCh38 chr3 129463622 129463622 + Missense_Mutation SNP T T A novel 7316-944 BS_9704T3DW T T c.565T>A p.Cys189Ser p.C189S ENST00000296266 7/31 83 76 5 38 38 0 IFT122,missense_variant,p.Cys189Ser,ENST00000296266,NM_052985.3;IFT122,missense_variant,p.Cys138Ser,ENST00000348417,NM_052989.2;IFT122,missense_variant,p.Cys138Ser,ENST00000347300,NM_018262.3;IFT122,missense_variant,p.Cys189Ser,ENST00000507564,NM_001280541.1;IFT122,missense_variant,p.Cys86Ser,ENST00000349441,NM_052990.2;IFT122,missense_variant,p.Cys91Ser,ENST00000504021,;IFT122,missense_variant,p.Cys73Ser,ENST00000515783,;IFT122,missense_variant,p.Cys125Ser,ENST00000512157,;IFT122,missense_variant,p.Cys90Ser,ENST00000508826,;IFT122,synonymous_variant,p.Ala98=,ENST00000514275,;IFT122,5_prime_UTR_variant,,ENST00000431818,NM_001280545.1;IFT122,5_prime_UTR_variant,,ENST00000440957,NM_001280546.1;IFT122,5_prime_UTR_variant,,ENST00000511498,;IFT122,intron_variant,,ENST00000509815,;IFT122,3_prime_UTR_variant,,ENST00000512220,;IFT122,3_prime_UTR_variant,,ENST00000502304,;IFT122,3_prime_UTR_variant,,ENST00000502456,;IFT122,3_prime_UTR_variant,,ENST00000509195,;IFT122,non_coding_transcript_exon_variant,,ENST00000506507,;IFT122,non_coding_transcript_exon_variant,,ENST00000514081,;IFT122,downstream_gene_variant,,ENST00000510524,; A ENSG00000163913 ENST00000296266 Transcript missense_variant 757/4151 565/3879 189/1292 C/S Tgc/Agc 1 1 IFT122 HGNC HGNC:13556 protein_coding YES CCDS3060.1 ENSP00000296266 Q9HBG6 UPI0000141042 NM_052985.3 deleterious(0) benign(0.12) 7/31 Gene3D:2.130.10.10,hmmpanther:PTHR12764,SMART_domains:SM00320,Superfamily_domains:SSF50978,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTG . . 129463622 GPR87 . GRCh38 chr3 151294678 151294678 + Missense_Mutation SNP G G T 7316-944 BS_9704T3DW G G c.568C>A p.His190Asn p.H190N ENST00000260843 3/3 84 79 5 28 28 0 GPR87,missense_variant,p.His190Asn,ENST00000260843,NM_023915.3;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000474524,NM_053002.5;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;GPR87,non_coding_transcript_exon_variant,,ENST00000629077,; T ENSG00000138271 ENST00000260843 Transcript missense_variant 1033/1608 568/1077 190/358 H/N Cat/Aat COSM5398395 1 -1 GPR87 HGNC HGNC:4538 protein_coding YES CCDS3157.1 ENSP00000260843 Q9BY21 UPI000003C9FF NM_023915.3 tolerated(0.38) benign(0) 3/3 Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01735,PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF8,Superfamily_domains:SSF81321,cd15969 1 MODERATE 1 SNV 1 1 PASS TGG . . 151294678 SEC62 . GRCh38 chr3 169982821 169982821 + Missense_Mutation SNP T T A rs1268980861 7316-944 BS_9704T3DW T T c.366T>A p.Asp122Glu p.D122E ENST00000337002 4/8 107 95 9 38 38 0 SEC62,missense_variant,p.Asp122Glu,ENST00000337002,NM_003262.3;SEC62,missense_variant,p.Asp122Glu,ENST00000480708,;SEC62-AS1,intron_variant,,ENST00000479626,;SEC62,upstream_gene_variant,,ENST00000470355,;SEC62,3_prime_UTR_variant,,ENST00000469515,;SEC62,3_prime_UTR_variant,,ENST00000460513,;SEC62,3_prime_UTR_variant,,ENST00000487736,;SEC62,non_coding_transcript_exon_variant,,ENST00000481435,;SEC62,non_coding_transcript_exon_variant,,ENST00000497277,;SEC62,upstream_gene_variant,,ENST00000469890,; A ENSG00000008952 ENST00000337002 Transcript missense_variant 424/6568 366/1200 122/399 D/E gaT/gaA rs1268980861 1 1 SEC62 HGNC HGNC:11846 protein_coding YES CCDS3210.1 ENSP00000337688 Q99442 UPI000007186C NM_003262.3 tolerated(0.98) benign(0) 4/8 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12443,Pfam_domain:PF03839,Gene3D:1.10.10.10 MODERATE 1 SNV 1 PASS ATA . . 1.461e-05 8.69e-05 2.151e-05 169982821 C4orf54 . GRCh38 chr4 99650337 99650337 + Missense_Mutation SNP G G T novel 7316-944 BS_9704T3DW G G c.4312C>A p.Leu1438Ile p.L1438I ENST00000511828 1/2 79 67 9 50 49 0 C4orf54,missense_variant,p.Leu1438Ile,ENST00000511828,NM_001354435.1; T ENSG00000248713 ENST00000511828 Transcript missense_variant 4312/10086 4312/5382 1438/1793 L/I Ctc/Atc 1 -1 C4orf54 HGNC HGNC:27741 protein_coding YES ENSP00000427555 D6RIA3 UPI0001D3B6FE NM_001354435.1 tolerated(0.2) probably_damaging(0.955) 1/2 hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF147,mobidb-lite MODERATE 1 SNV 1 PASS AGG . . 99650337 UCP1 . GRCh38 chr4 140563218 140563218 + Splice_Region DEL A A - rs111460010 7316-944 BS_9704T3DW A A c.527-7del ENST00000262999 67 55 8 36 32 0 UCP1,splice_region_variant,,ENST00000262999,NM_021833.4; - ENSG00000109424 ENST00000262999 Transcript splice_region_variant,intron_variant rs111460010,TMP_ESP_4_141484372_141484372,COSM5943617,COSM3125772 1 -1 UCP1 HGNC HGNC:12517 protein_coding YES CCDS3753.1 ENSP00000262999 P25874 UPI000003627B NM_021833.4 3/5 0.03633 0.04289 0,0,1,1 LOW 1 deletion 1 0,0,1,1 1 PASS GGAA . . 0.03445 0.009483 0.02009 0.07075 0.01135 0.03541 0.04376 0.03923 0.02533 140563217 ZAN . GRCh38 chr7 100793911 100793911 + Frame_Shift_Del DEL G G - novel 7316-944 BS_9704T3DW G G c.7881del p.Leu2629CysfsTer40 p.L2629Cfs*40 ENST00000613979 43/48 82 70 7 34 34 0 ZAN,frameshift_variant,p.Leu2629CysfsTer40,ENST00000613979,NM_003386.2;ZAN,frameshift_variant,p.Leu2629CysfsTer40,ENST00000618565,;ZAN,intron_variant,,ENST00000546292,;ZAN,intron_variant,,ENST00000620596,NM_173059.2;ZAN,frameshift_variant,p.Gly2649AlafsTer24,ENST00000542585,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;ZAN,intron_variant,,ENST00000538115,;ZAN,intron_variant,,ENST00000546213,; - ENSG00000146839 ENST00000613979 Transcript frameshift_variant 8044/8669 7879/8439 2627/2812 G/X Ggg/gg 1 1 ZAN HGNC HGNC:12857 protein_coding YES CCDS47664.2 ENSP00000480750 A0A087WU49 UPI000441C79E NM_003386.2 43/48 Low_complexity_(Seg):seg,hmmpanther:PTHR11339:SF367,hmmpanther:PTHR11339 HIGH 1 deletion 1 2 PASS GAGG . . 100793910 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-944 BS_9704T3DW A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 101 63 36 31 30 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 TAS2R41 . GRCh38 chr7 143478475 143478475 + Missense_Mutation SNP G G A novel 7316-944 BS_9704T3DW G G c.603G>A p.Met201Ile p.M201I ENST00000408916 1/1 56 47 5 37 37 0 TAS2R41,missense_variant,p.Met201Ile,ENST00000408916,NM_176883.2;EPHA1-AS1,intron_variant,,ENST00000429289,; A ENSG00000221855 ENST00000408916 Transcript missense_variant 603/924 603/924 201/307 M/I atG/atA 1 1 TAS2R41 HGNC HGNC:18883 protein_coding YES CCDS43663.1 ENSP00000386201 P59536 UPI000000D823 NM_176883.2 tolerated(0.98) benign(0) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF73,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15018 MODERATE SNV PASS TGC . . 143478475 PLCE1 . GRCh38 chr10 94031319 94031319 + Nonsense_Mutation SNP G G A novel 7316-944 BS_9704T3DW G G c.273G>A p.Trp91Ter p.W91* ENST00000371380 1/32 59 53 5 29 29 0 PLCE1,stop_gained,p.Trp91Ter,ENST00000371380,NM_016341.3,NM_001288989.1; A ENSG00000138193 ENST00000371380 Transcript stop_gained 508/12024 273/6909 91/2302 W/* tgG/tgA 1 1 PLCE1 HGNC HGNC:17175 protein_coding YES CCDS41552.1 ENSP00000360431 Q9P212 UPI00001F93EE NM_016341.3,NM_001288989.1 1/32 HIGH 1 SNV 1 1 PASS GGG . . 94031319 OR4C1P . GRCh38 chr11 55506726 55506726 + Splice_Region SNP A A T novel 7316-944 BS_9704T3DW A A n.88+4A>T ENST00000641065 86 72 12 39 39 0 OR4C1P,splice_region_variant,,ENST00000641065,;OR4C1P,upstream_gene_variant,,ENST00000530880,; T ENSG00000254576 ENST00000641065 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 OR4C1P HGNC HGNC:8292 processed_transcript YES 1/1 LOW 1 SNV PASS GAG . . 55506726 ACY3 . GRCh38 chr11 67642807 67642807 + Missense_Mutation SNP C C T rs771927993 7316-944 BS_9704T3DW C C c.877G>A p.Val293Ile p.V293I ENST00000255082 8/8 77 62 12 36 36 0 ACY3,missense_variant,p.Val293Ile,ENST00000255082,NM_080658.1;ACY3,missense_variant,p.Val172Ile,ENST00000529256,;TBX10,upstream_gene_variant,,ENST00000335385,NM_005995.4; T ENSG00000132744 ENST00000255082 Transcript missense_variant 1048/1300 877/960 293/319 V/I Gtt/Att rs771927993,COSM690331 1 -1 ACY3 HGNC HGNC:24104 protein_coding YES CCDS8175.1 ENSP00000255082 Q96HD9 A0A024R5L2 UPI0000073C5C NM_080658.1 tolerated(0.55) benign(0) 8/8 Gene3D:3.40.630.10,HAMAP:MF_00704,Pfam_domain:PF04952,PIRSF_domain:PIRSF018001,hmmpanther:PTHR15162,hmmpanther:PTHR15162:SF5,Superfamily_domains:SSF53187,cd06909 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 4.062e-06 8.955e-06 67642807 USP35 . GRCh38 chr11 78209990 78209990 + Missense_Mutation SNP T T G novel 7316-944 BS_9704T3DW T T c.2135T>G p.Val712Gly p.V712G ENST00000529308 10/11 82 65 11 35 31 0 USP35,missense_variant,p.Val712Gly,ENST00000529308,NM_020798.2;USP35,missense_variant,p.Val443Gly,ENST00000526425,;USP35,missense_variant,p.Val280Gly,ENST00000530267,;USP35,downstream_gene_variant,,ENST00000528910,;USP35,non_coding_transcript_exon_variant,,ENST00000530535,;USP35,3_prime_UTR_variant,,ENST00000530546,;USP35,downstream_gene_variant,,ENST00000530521,; G ENSG00000118369 ENST00000529308 Transcript missense_variant 2396/4216 2135/3057 712/1018 V/G gTg/gGg 1 1 USP35 HGNC HGNC:20061 protein_coding YES CCDS41693.1 ENSP00000431876 Q9P2H5 UPI0000456553 NM_020798.2 tolerated_low_confidence(0.38) benign(0) 10/11 Gene3D:3.90.70.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR44141,hmmpanther:PTHR44141:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 78209990 AEBP2 . GRCh38 chr12 19439920 19439920 + Missense_Mutation SNP T T G rs1057382444 7316-944 BS_9704T3DW T T c.221T>G p.Val74Gly p.V74G ENST00000398864 1/9 68 47 15 29 25 1 AEBP2,missense_variant,p.Val74Gly,ENST00000398864,NM_001114176.1;AEBP2,missense_variant,p.Val74Gly,ENST00000266508,NM_153207.4;AEBP2,intron_variant,,ENST00000538425,;AEBP2,intron_variant,,ENST00000541908,;AEBP2,upstream_gene_variant,,ENST00000360995,NM_001267043.1;,regulatory_region_variant,,ENSR00000049482,;,TF_binding_site_variant,,MA0162.2,; G ENSG00000139154 ENST00000398864 Transcript missense_variant 247/5099 221/1554 74/517 V/G gTg/gGg rs1057382444 1 1 AEBP2 HGNC HGNC:24051 protein_coding YES CCDS44841.1 ENSP00000381840 Q6ZN18 UPI00002290BB NM_001114176.1 deleterious_low_confidence(0.03) benign(0) 1/9 hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF80,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 0.0004678 0.001211 0.0006655 0.000171 0.0007225 0.0005765 0.0004367 0.0001757 19439920 FARP1 . GRCh38 chr13 98409395 98409395 + Missense_Mutation SNP T T G novel 7316-944 BS_9704T3DW T T c.1472T>G p.Val491Gly p.V491G ENST00000627049 14/28 77 61 5 33 32 0 FARP1,missense_variant,p.Val491Gly,ENST00000319562,NM_005766.3;FARP1,missense_variant,p.Val491Gly,ENST00000627049,;FARP1,missense_variant,p.Val491Gly,ENST00000595437,NM_001286839.1;FARP1,downstream_gene_variant,,ENST00000596580,;FARP1,non_coding_transcript_exon_variant,,ENST00000457029,; G ENSG00000152767 ENST00000627049 Transcript missense_variant 1890/5103 1472/3231 491/1076 V/G gTg/gGg 1 1 FARP1 HGNC HGNC:3591 protein_coding YES CCDS66572.1 ENSP00000486285 C9JME2 UPI000041C6E3 tolerated(0.44) benign(0.013) 14/28 mobidb-lite,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105 MODERATE 1 SNV 5 PASS GTG . . 98409395 TMEM63C . GRCh38 chr14 77218920 77218920 + Missense_Mutation SNP G G A novel 7316-944 BS_9704T3DW G G c.107G>A p.Gly36Glu p.G36E ENST00000298351 3/24 80 74 5 29 29 0 TMEM63C,missense_variant,p.Gly36Glu,ENST00000298351,NM_020431.3;TMEM63C,missense_variant,p.Gly36Glu,ENST00000554766,;TMEM63C,missense_variant,p.Gly36Glu,ENST00000556514,;TMEM63C,missense_variant,p.Gly36Glu,ENST00000555338,;TMEM63C,missense_variant,p.Gly36Glu,ENST00000554346,;TMEM63C,downstream_gene_variant,,ENST00000557408,;AC007375.2,3_prime_UTR_variant,,ENST00000557752,; A ENSG00000165548 ENST00000298351 Transcript missense_variant 251/5334 107/2421 36/806 G/E gGg/gAg 1 1 TMEM63C HGNC HGNC:23787 protein_coding YES CCDS45141.1 ENSP00000298351 Q9P1W3 A0A024R6B3 UPI0000049C5C NM_020431.3 deleterious(0) possibly_damaging(0.816) 3/24 hmmpanther:PTHR13018,hmmpanther:PTHR13018:SF21 MODERATE 1 SNV 1 PASS GGG . . 77218920 MAGEL2 . GRCh38 chr15 23646356 23646356 + Missense_Mutation SNP C C G rs2233063 7316-944 BS_9704T3DW C C c.1387G>C p.Ala463Pro p.A463P ENST00000532292 1/1 83 64 14 36 32 0 MAGEL2,missense_variant,p.Ala463Pro,ENST00000532292,NM_019066.4; G ENSG00000254585 ENST00000532292 Transcript missense_variant 1486/4298 1387/3750 463/1249 A/P Gct/Cct rs2233063 1 -1 MAGEL2 HGNC HGNC:6814 protein_coding YES CCDS73700.1 ENSP00000433433 Q9UJ55 UPI0001B3CB28 NM_019066.4 tolerated_low_confidence(1) unknown(0) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66 0.0739 0.1256 0.0274 0.0675 0.0567 0.0613 benign MODERATE 1 SNV 1 PASS GCG . . 0.04777 0.09459 0.02985 0.02273 0.06122 0.1322 0.04228 0.04545 0.06087 23646356 DUOX1 . GRCh38 chr15 45144889 45144889 + Splice_Region SNP C C T rs539813312 7316-944 BS_9704T3DW C C c.2137-6C>T ENST00000321429 80 74 5 39 38 0 DUOX1,splice_region_variant,,ENST00000321429,NM_017434.4;DUOX1,splice_region_variant,,ENST00000389037,NM_175940.2;DUOX1,splice_region_variant,,ENST00000561166,;DUOX1,splice_region_variant,,ENST00000561220,;DUOX1,upstream_gene_variant,,ENST00000557893,;DUOX1,downstream_gene_variant,,ENST00000558991,;DUOX1,upstream_gene_variant,,ENST00000559219,; T ENSG00000137857 ENST00000321429 Transcript splice_region_variant,intron_variant rs539813312 1 1 DUOX1 HGNC HGNC:3062 protein_coding YES CCDS32221.1 ENSP00000317997 Q9NRD9 UPI000006E50E NM_017434.4 18/34 LOW 1 SNV 1 PASS CCC . . 5.035e-05 0.0001109 45144889 LMAN1L . GRCh38 chr15 74824373 74824373 + Missense_Mutation SNP G G A rs201131489 7316-944 BS_9704T3DW G G c.1346G>A p.Arg449His p.R449H ENST00000309664 13/14 94 57 35 37 37 0 LMAN1L,missense_variant,p.Arg449His,ENST00000309664,NM_021819.2;LMAN1L,missense_variant,p.Arg437His,ENST00000379709,;LMAN1L,intron_variant,,ENST00000567848,;CPLX3,upstream_gene_variant,,ENST00000395018,NM_001030005.2;AC091230.1,non_coding_transcript_exon_variant,,ENST00000564823,;AC091230.1,non_coding_transcript_exon_variant,,ENST00000488000,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000565585,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000566046,;LMAN1L,downstream_gene_variant,,ENST00000456603,;LMAN1L,downstream_gene_variant,,ENST00000470711,; A ENSG00000140506 ENST00000309664 Transcript missense_variant 1485/1873 1346/1581 449/526 R/H cGc/cAc rs201131489 1 1 LMAN1L HGNC HGNC:6632 protein_coding YES CCDS10270.1 ENSP00000310431 Q9HAT1 UPI00001AEF1F NM_021819.2 tolerated(0.22) benign(0.003) 13/14 hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF31,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CGC . . 3.252e-05 6.534e-05 1.792e-05 0.0001625 74824373 RBBP6 . GRCh38 chr16 24572169 24572169 + Missense_Mutation SNP C C G novel 7316-944 BS_9704T3DW C C c.5103C>G p.Ser1701Arg p.S1701R ENST00000319715 18/18 104 92 12 37 37 0 RBBP6,missense_variant,p.Ser1701Arg,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Ser1667Arg,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Ser1739Arg,ENST00000646282,;RBBP6,missense_variant,p.Ser861Arg,ENST00000381039,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,; G ENSG00000122257 ENST00000319715 Transcript missense_variant 6146/6840 5103/5379 1701/1792 S/R agC/agG 1 1 RBBP6 HGNC HGNC:9889 protein_coding YES CCDS10621.1 ENSP00000317872 Q7Z6E9 UPI00001A96B8 NM_006910.4 deleterious_low_confidence(0.01) possibly_damaging(0.897) 18/18 hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCA . . 24572169 GSE1 . GRCh38 chr16 85655781 85655781 + Missense_Mutation SNP A A C rs764482625 7316-944 BS_9704T3DW A A c.853A>C p.Thr285Pro p.T285P ENST00000253458 6/16 79 62 12 31 28 1 GSE1,missense_variant,p.Thr285Pro,ENST00000253458,NM_014615.3;GSE1,missense_variant,p.Thr212Pro,ENST00000393243,NM_001278184.1;GSE1,missense_variant,p.Thr92Pro,ENST00000412692,;GSE1,missense_variant,p.Thr181Pro,ENST00000405402,NM_001134473.2;GSE1,missense_variant,p.Thr181Pro,ENST00000411612,;GSE1,downstream_gene_variant,,ENST00000635906,;RN7SL381P,upstream_gene_variant,,ENST00000577658,; C ENSG00000131149 ENST00000253458 Transcript missense_variant 1029/7495 853/3654 285/1217 T/P Acc/Ccc rs764482625 1 1 GSE1 HGNC HGNC:28979 protein_coding YES CCDS10952.1 ENSP00000253458 Q14687 UPI0000185F04 NM_014615.3 tolerated(0.28) benign(0.046) 6/16 Gene3D:1.20.1000.10,hmmpanther:PTHR17608 MODERATE 1 SNV 5 PASS CAC . . 0.0009101 0.0004056 0.003091 0.001384 0.0005622 0.0009024 0.0004623 0.001431 0.0006213 85655781 ABCA6 . GRCh38 chr17 69113668 69113668 + Nonsense_Mutation SNP C C A novel 7316-944 BS_9704T3DW C C c.1852G>T p.Gly618Ter p.G618* ENST00000284425 14/39 96 86 7 27 27 0 ABCA6,stop_gained,p.Gly618Ter,ENST00000284425,NM_080284.2;ABCA6,downstream_gene_variant,,ENST00000592493,;ABCA6,non_coding_transcript_exon_variant,,ENST00000590311,;ABCA6,non_coding_transcript_exon_variant,,ENST00000589803,; A ENSG00000154262 ENST00000284425 Transcript stop_gained 2027/5300 1852/4854 618/1617 G/* Gga/Tga 1 -1 ABCA6 HGNC HGNC:36 protein_coding YES CCDS11683.1 ENSP00000284425 Q8N139 UPI000013DD9D NM_080284.2 14/39 Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF13,SMART_domains:SM00382,Superfamily_domains:SSF52540,cd03263 HIGH 1 SNV 1 PASS CCT . . 69113668 MUC16 . GRCh38 chr19 8883507 8883507 + Missense_Mutation SNP A A C novel 7316-944 BS_9704T3DW A A c.41502T>G p.Ser13834Arg p.S13834R ENST00000397910 65/84 67 60 7 40 40 0 MUC16,missense_variant,p.Ser13834Arg,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Ser674Arg,ENST00000599436,;MUC16,missense_variant,p.Ser652Arg,ENST00000601404,;MUC16,missense_variant,p.Ser454Arg,ENST00000596768,; C ENSG00000181143 ENST00000397910 Transcript missense_variant 41706/43816 41502/43524 13834/14507 S/R agT/agG 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 probably_damaging(0.92) 65/84 PROSITE_profiles:PS50024,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672,Pfam_domain:PF01390,Gene3D:3.30.70.960,Superfamily_domains:SSF82671 MODERATE 1 SNV 5 1 PASS CAC . . 8883507 AC008991.1 . GRCh38 chr19 28953199 28953199 + Splice_Site SNP G G A novel 7316-944 BS_9704T3DW G G n.492-1G>A ENST00000591285 88 78 7 32 32 0 AC008991.1,splice_acceptor_variant,,ENST00000591285,;AC011524.1,upstream_gene_variant,,ENST00000590167,; A ENSG00000267528 ENST00000591285 Transcript splice_acceptor_variant,non_coding_transcript_variant 1 1 AC008991.1 Clone_based_ensembl_gene lincRNA YES 2/2 HIGH SNV 4 PASS AGG . . 28953199 TPRX1 . GRCh38 chr19 47802413 47802413 + Missense_Mutation SNP A A G rs201483839 7316-944 BS_9704T3DW A A c.598T>C p.Ser200Pro p.S200P ENST00000322175 2/2 62 42 11 21 16 0 TPRX1,missense_variant,p.Ser297Pro,ENST00000535759,;TPRX1,missense_variant,p.Ser200Pro,ENST00000322175,NM_198479.2;TPRX1,missense_variant,p.Ser190Pro,ENST00000543508,; G ENSG00000178928 ENST00000322175 Transcript missense_variant 754/1924 598/1236 200/411 S/P Tca/Cca rs201483839,COSM1481282 1 -1 TPRX1 HGNC HGNC:32174 protein_coding YES CCDS33066.1 ENSP00000323455 Q8N7U7 UPI0000198666 NM_198479.2 tolerated(0.3) benign(0) 2/2 hmmpanther:PTHR22979,hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF25,hmmpanther:PTHR22979:SF25,mobidb-lite,Low_complexity_(Seg):seg 0.0339 0.0151 0.0447 0.0456 0.0447 0.0286 0.0004614 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.002555 0.003497 0.001974 0.0001533 0.004232 0.003791 0.001486 0.0004191 0.004972 47802413 ZNF71 . GRCh38 chr19 56621353 56621353 + Frame_Shift_Del DEL G G - 7316-944 BS_9704T3DW G G c.71del p.Gly24AspfsTer45 p.G24Dfs*45 ENST00000328070 3/3 90 52 30 35 32 0 ZNF71,frameshift_variant,p.Gly24AspfsTer45,ENST00000328070,NM_021216.4;ZNF71,frameshift_variant,p.Gly24AspfsTer45,ENST00000599599,; - ENSG00000197951 ENST00000328070 Transcript frameshift_variant 300/5428 66/1470 22/489 T/X acG/ac COSM6832614 1 1 ZNF71 HGNC HGNC:13141 protein_coding YES CCDS12947.1 ENSP00000328245 Q9NQZ8 UPI00000437FA NM_021216.4 3/3 hmmpanther:PTHR44237,hmmpanther:PTHR44237:SF4,mobidb-lite 1 HIGH 1 deletion 1 5 1 PASS ACGG . . 56621352 MAGEC1 . GRCh38 chrX 141905936 141905936 + Missense_Mutation SNP A A C rs80314937 7316-944 BS_9704T3DW A A c.532A>C p.Ile178Leu p.I178L ENST00000285879 4/4 34 24 6 23 21 0 MAGEC1,missense_variant,p.Ile178Leu,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; C ENSG00000155495 ENST00000285879 Transcript missense_variant 818/4270 532/3429 178/1142 I/L Att/Ctt rs80314937,COSM5655182,COSM4156627 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(1) benign(0) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TAT . . 0.001039 0.002972 0.0005556 0.0002075 0.0008894 0.0007944 0.001027 0.000943 0.001411 141905936 MAGEC1 . GRCh38 chrX 141905959 141905959 + Missense_Mutation SNP T T A rs74333625 7316-944 BS_9704T3DW T T c.555T>A p.Ser185Arg p.S185R ENST00000285879 4/4 40 29 7 25 24 0 MAGEC1,missense_variant,p.Ser185Arg,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; A ENSG00000155495 ENST00000285879 Transcript missense_variant 841/4270 555/3429 185/1142 S/R agT/agA rs74333625,COSM4156628 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(0.27) benign(0.043) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 0,1 MODERATE 1 SNV 1 0,1 PASS GTA . . 0.008783 0.008216 0.003448 0.001645 0.007689 0.02564 0.007764 0.01354 0.0103 141905959 ATAD3B . GRCh38 chr1 1486536 1486536 + Splice_Region SNP T T C rs201951488 7316-2172 BS_XRF8D151 T T c.1090-8T>C ENST00000308647 75 60 13 27 27 0 ATAD3B,splice_region_variant,,ENST00000308647,NM_001317238.1,NM_031921.5;ATAD3B,downstream_gene_variant,,ENST00000378736,;ATAD3B,splice_region_variant,,ENST00000472194,;ATAD3B,splice_region_variant,,ENST00000474481,;ATAD3B,splice_region_variant,,ENST00000485748,; C ENSG00000160072 ENST00000308647 Transcript splice_region_variant,intron_variant rs201951488,COSM5419734 1 1 ATAD3B HGNC HGNC:24007 protein_coding YES CCDS30.1 ENSP00000311766 Q5T9A4 UPI000013E044 NM_001317238.1,NM_031921.5 10/15 0,1 LOW 1 SNV 1 0,1 PASS CTT . . 0.1902 0.3329 0.3088 0.1345 0.2702 0.1751 0.1184 0.1702 0.2713 1486536 HRNR . GRCh38 chr1 152214223 152214223 + Missense_Mutation SNP T T A rs773518265 7316-2172 BS_XRF8D151 T T c.7406A>T p.Gln2469Leu p.Q2469L ENST00000368801 3/3 60 45 11 27 26 0 HRNR,missense_variant,p.Gln2469Leu,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;,regulatory_region_variant,,ENSR00000254438,; A ENSG00000197915 ENST00000368801 Transcript missense_variant 7482/9623 7406/8553 2469/2850 Q/L cAg/cTg rs773518265,COSM3801865 1 -1 HRNR HGNC HGNC:20846 protein_coding YES CCDS30859.1 ENSP00000357791 Q86YZ3 UPI00001D7CAD NM_001009931.2 deleterious(0.01) benign(0.433) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 0.3203 0.274 0.2702 0.3114 0.1816 0.4552 0.4102 0.3238 0.2421 152214223 SGO2 . GRCh38 chr2 200573813 200573813 + Missense_Mutation SNP G G A rs371539494 7316-2172 BS_XRF8D151 G G c.3467G>A p.Arg1156His p.R1156H ENST00000357799 7/9 84 74 9 31 31 0 SGO2,missense_variant,p.Arg1156His,ENST00000357799,NM_001160046.1,NM_001160033.1,NM_152524.5;SGO2,downstream_gene_variant,,ENST00000409203,; A ENSG00000163535 ENST00000357799 Transcript missense_variant 3565/4214 3467/3798 1156/1265 R/H cGt/cAt rs371539494,COSM1241728 1 1 SGO2 HGNC HGNC:30812 protein_coding YES CCDS42796.1 ENSP00000350447 Q562F6 UPI00001AEBF5 NM_001160046.1,NM_001160033.1,NM_152524.5 tolerated(0.65) benign(0) 7/9 hmmpanther:PTHR21577,hmmpanther:PTHR21577:SF5 0.0001225 0,1 MODERATE 1 SNV 1 0,1 PASS CGT . . 2.854e-05 0.0001161 0.0001634 200573813 MKI67 . GRCh38 chr10 128106848 128106849 + Frame_Shift_Del DEL TG TG - rs145960091 7316-2172 BS_XRF8D151 TG TG c.4991_4992del p.Thr1664ArgfsTer7 p.T1664Rfs*7 ENST00000368654 13/15 91 72 8 34 33 0 MKI67,frameshift_variant,p.Thr1664ArgfsTer7,ENST00000368654,NM_002417.4;MKI67,frameshift_variant,p.Thr1304ArgfsTer7,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;MKI67,downstream_gene_variant,,ENST00000484853,; - ENSG00000148773 ENST00000368654 Transcript frameshift_variant 5367-5368/12678 4991-4992/9771 1664/3256 T/X aCA/a rs145960091,COSM916119,COSM1579635 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 13/15 Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 HIGH 1 deletion 2 0,1,1 PASS TCTGT . . 0.0001637 0.0002609 0.000287 0.0002111 3.866e-05 128106847 ZNF705A . GRCh38 chr12 8175287 8175287 + Missense_Mutation SNP C C T rs201454011 7316-2172 BS_XRF8D151 C C c.199C>T p.Arg67Trp p.R67W ENST00000359286 3/5 101 80 20 46 45 0 ZNF705A,missense_variant,p.Arg67Trp,ENST00000359286,NM_001004328.2;ZNF705A,missense_variant,p.Arg67Trp,ENST00000610508,;ZNF705A,missense_variant,p.Arg67Trp,ENST00000396570,;ZNF705A,upstream_gene_variant,,ENST00000398526,;FAM66C,upstream_gene_variant,,ENST00000454799,;FAM66C,upstream_gene_variant,,ENST00000456135,;FAM66C,upstream_gene_variant,,ENST00000541558,;FAM66C,upstream_gene_variant,,ENST00000544214,;AC092111.3,3_prime_UTR_variant,,ENST00000402465,; T ENSG00000196946 ENST00000359286 Transcript missense_variant 288/3455 199/903 67/300 R/W Cgg/Tgg rs201454011,COSM3733520 1 1 ZNF705A HGNC HGNC:32281 protein_coding YES CCDS31737.1 ENSP00000352233 Q6ZN79 UPI000035E780 NM_001004328.2 deleterious(0) benign(0.061) 3/5 PROSITE_profiles:PS50805,hmmpanther:PTHR24381:SF239,hmmpanther:PTHR24381,SMART_domains:SM00349 0,1 MODERATE SNV 2 0,1 PASS GCG . . 0.006 0.001869 0.01587 0.00218 0.0129 0.002025 0.003352 0.007842 0.004214 8175287 SKA3 . GRCh38 chr13 21157978 21157978 + Missense_Mutation SNP G G T novel 7316-2172 BS_XRF8D151 G G c.1063C>A p.Leu355Met p.L355M ENST00000314759 7/9 85 49 32 29 28 0 SKA3,missense_variant,p.Leu355Met,ENST00000314759,NM_145061.5;SKA3,missense_variant,p.Leu355Met,ENST00000400018,NM_001166017.1;SKA3,3_prime_UTR_variant,,ENST00000298260,;SKA3,intron_variant,,ENST00000462482,;SKA3,downstream_gene_variant,,ENST00000465471,; T ENSG00000165480 ENST00000314759 Transcript missense_variant 1188/2919 1063/1239 355/412 L/M Ctg/Atg 1 -1 SKA3 HGNC HGNC:20262 protein_coding YES CCDS31946.1 ENSP00000319417 Q8IX90 UPI00001AEC75 NM_145061.5 deleterious(0) probably_damaging(0.986) 7/9 hmmpanther:PTHR28543 MODERATE 1 SNV 1 PASS AGA . . 21157978 NOS2 . GRCh38 chr17 27760742 27760742 + Missense_Mutation SNP G G A rs1258316978 7316-2172 BS_XRF8D151 G G c.2891C>T p.Ala964Val p.A964V ENST00000313735 24/27 77 70 7 41 40 0 NOS2,missense_variant,p.Ala964Val,ENST00000313735,NM_000625.4;NOS2,missense_variant,p.Ala963Val,ENST00000646938,;NOS2,missense_variant,p.Ala925Val,ENST00000621962,;,regulatory_region_variant,,ENSR00000282953,; A ENSG00000007171 ENST00000313735 Transcript missense_variant,splice_region_variant 3125/4176 2891/3462 964/1153 A/V gCc/gTc rs1258316978,COSM5017241 1 -1 NOS2 HGNC HGNC:7873 protein_coding YES CCDS11223.1 ENSP00000327251 P35228 UPI000011D645 NM_000625.4 tolerated(0.05) benign(0.006) 24/27 Gene3D:3.40.50.80,PIRSF_domain:PIRSF000333,PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF56,Superfamily_domains:SSF63380 0,1 MODERATE 1 SNV 1 0,1 1 PASS GGC . . 27760742 NOS2 . GRCh38 chr17 27760746 27760746 + Splice_Site SNP T T G rs1337800290 7316-2172 BS_XRF8D151 T T c.2889-2A>C p.X963_splice ENST00000313735 79 72 7 40 40 0 NOS2,splice_acceptor_variant,,ENST00000313735,NM_000625.4;NOS2,splice_acceptor_variant,,ENST00000621962,;NOS2,splice_acceptor_variant,,ENST00000646938,;,regulatory_region_variant,,ENSR00000282953,; G ENSG00000007171 ENST00000313735 Transcript splice_acceptor_variant rs1337800290,COSM5017261 1 -1 NOS2 HGNC HGNC:7873 protein_coding YES CCDS11223.1 ENSP00000327251 P35228 UPI000011D645 NM_000625.4 23/26 0,1 HIGH 1 SNV 1 0,1 1 PASS CTG . . 27760746 BTBD2 . GRCh38 chr19 2015542 2015547 + In_Frame_Del DEL GGCGGC GGCGGC - rs1163574007 7316-2172 BS_XRF8D151 GGCGGC GGCGGC c.157_162del p.Ala53_Ala54del p.A53_A54del ENST00000255608 1/9 52 6 35 2 0 0 BTBD2,inframe_deletion,p.Ala53_Ala54del,ENST00000255608,NM_017797.3;BTBD2,intron_variant,,ENST00000587742,;BTBD2,intron_variant,,ENST00000588395,;BTBD2,intron_variant,,ENST00000590646,;BTBD2,coding_sequence_variant,,ENST00000589200,;,regulatory_region_variant,,ENSR00000105787,;AC004678.1,upstream_gene_variant,,ENST00000615016,;,TF_binding_site_variant,,MA0341.1,;,TF_binding_site_variant,,MA0366.1,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0162.2,; - ENSG00000133243 ENST00000255608 Transcript inframe_deletion 178-183/2649 157-162/1578 53-54/525 AA/- GCCGCC/- rs1163574007 1 -1 BTBD2 HGNC HGNC:15504 protein_coding YES CCDS12078.1 ENSP00000255608 Q9BX70 UPI0000126B02 NM_017797.3 1/9 hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF16,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 deletion 1 PASS GGGGCGGCG . . 2015541 COL5A3 . GRCh38 chr19 9980865 9980866 + Splice_Region INS - - A rs776286014 7316-2172 BS_XRF8D151 - - c.2506-7dup ENST00000264828 63 47 7 35 29 0 COL5A3,splice_region_variant,,ENST00000264828,NM_015719.3; A ENSG00000080573 ENST00000264828 Transcript splice_region_variant,intron_variant rs776286014 1 -1 COL5A3 HGNC HGNC:14864 protein_coding YES CCDS12222.1 ENSP00000264828 P25940 UPI00002032A3 NM_015719.3 33/66 LOW 1 insertion 1 PASS ACA . . 0.01583 0.01171 0.01743 0.0153 0.01341 0.01249 0.01566 0.01751 0.02037 9980865 RAD21L1 . GRCh38 chr20 1242850 1242850 + Splice_Region SNP C C A novel 7316-2172 BS_XRF8D151 C C c.1083+5C>A ENST00000409241 61 55 6 42 42 0 RAD21L1,splice_region_variant,,ENST00000402452,;RAD21L1,splice_region_variant,,ENST00000409241,NM_001136566.2;,regulatory_region_variant,,ENSR00000133512,; A ENSG00000244588 ENST00000409241 Transcript splice_region_variant,intron_variant 1 1 RAD21L1 HGNC HGNC:16271 protein_coding YES CCDS46568.1 ENSP00000386414 Q9H4I0 UPI000188152B NM_001136566.2 9/13 LOW 1 SNV 1 PASS ACG . . 1242850 RTEL1 . GRCh38 chr20 63674075 63674075 + Missense_Mutation SNP G G A rs201365106 7316-2172 BS_XRF8D151 G G c.901G>A p.Ala301Thr p.A301T ENST00000360203 10/35 97 86 11 53 49 0 RTEL1,missense_variant,p.Ala301Thr,ENST00000370018,NM_016434.3;RTEL1,missense_variant,p.Ala301Thr,ENST00000360203,NM_001283009.1;RTEL1,missense_variant,p.Ala325Thr,ENST00000508582,NM_032957.4;RTEL1,missense_variant,p.Ala78Thr,ENST00000318100,NM_001283010.1;RTEL1,missense_variant,p.Ala351Thr,ENST00000356810,;RTEL1,downstream_gene_variant,,ENST00000463361,;RTEL1-TNFRSF6B,missense_variant,p.Ala301Thr,ENST00000492259,;RTEL1,missense_variant,p.Ala301Thr,ENST00000482936,; A ENSG00000258366 ENST00000360203 Transcript missense_variant 1244/4630 901/3903 301/1300 A/T Gcg/Acg rs201365106,COSM5133507,COSM5133506,COSM1495123 1 1 RTEL1 HGNC HGNC:15888 protein_coding YES CCDS63331.1 ENSP00000353332 Q9NZ71 UPI00002063E3 NM_001283009.1 tolerated(0.6) benign(0.001) 10/35 Gene3D:3.40.50.300,HAMAP:MF_03065,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF34,mobidb-lite 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 1 PASS CGC . . 8.243e-06 4.532e-05 3.277e-05 63674075 RTEL1 . GRCh38 chr20 63674097 63674097 + Splice_Region SNP C C T rs201077722 7316-2172 BS_XRF8D151 C C c.919+4C>T ENST00000360203 101 79 14 54 48 1 RTEL1,splice_region_variant,,ENST00000318100,NM_001283010.1;RTEL1,splice_region_variant,,ENST00000360203,NM_001283009.1;RTEL1,splice_region_variant,,ENST00000370018,NM_016434.3;RTEL1,splice_region_variant,,ENST00000508582,NM_032957.4;RTEL1,downstream_gene_variant,,ENST00000356810,;RTEL1,downstream_gene_variant,,ENST00000463361,;RTEL1,splice_region_variant,,ENST00000482936,;RTEL1-TNFRSF6B,splice_region_variant,,ENST00000492259,; T ENSG00000258366 ENST00000360203 Transcript splice_region_variant,intron_variant rs201077722,COSM6026642,COSM6026641,COSM6026640 1 1 RTEL1 HGNC HGNC:15888 protein_coding YES CCDS63331.1 ENSP00000353332 Q9NZ71 UPI00002063E3 NM_001283009.1 10/34 0,1,1,1 LOW 1 SNV 5 0,1,1,1 1 PASS GCG . . 4.227e-06 9.322e-06 63674097 PRAMEF1 . GRCh38 chr1 12794301 12794301 + Missense_Mutation SNP G G A rs1063773 7316-370 BS_HS2BZ6T2 G G c.674G>A p.Arg225His p.R225H ENST00000332296 3/4 59 52 7 27 27 0 PRAMEF1,missense_variant,p.Arg225His,ENST00000332296,NM_023013.4;PRAMEF1,upstream_gene_variant,,ENST00000400814,NM_001294139.1; A ENSG00000116721 ENST00000332296 Transcript missense_variant 777/2160 674/1425 225/474 R/H cGt/cAt rs1063773,COSM5459738,COSM5459737 1 1 PRAMEF1 HGNC HGNC:28840 protein_coding YES CCDS148.1 ENSP00000332134 O95521 UPI0004620BB8 NM_023013.4 tolerated(0.07) benign(0) 3/4 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2,Superfamily_domains:SSF52047 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGT . . 9.784e-05 6.599e-05 0.000179 0.0001018 0.0001742 8.101e-05 0.0001302 12794301 FOXO6 . GRCh38 chr1 41382083 41382083 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.882T>G p.Cys294Trp p.C294W ENST00000641094 2/3 83 74 6 22 22 0 FOXO6,missense_variant,p.Cys294Trp,ENST00000641094,NM_001291281.2;FOXO6,non_coding_transcript_exon_variant,,ENST00000372591,;,regulatory_region_variant,,ENSR00000005332,; G ENSG00000204060 ENST00000641094 Transcript missense_variant 882/1476 882/1476 294/492 C/W tgT/tgG 1 1 FOXO6 HGNC HGNC:24814 protein_coding YES ENSP00000493184 A8MYZ6 UPI00015E0BB0 NM_001291281.2 deleterious(0) unknown(0) 2/3 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF205 MODERATE 1 SNV PASS GTC . . 41382083 FOXE3 . GRCh38 chr1 47416352 47416352 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.37T>G p.Phe13Val p.F13V ENST00000335071 1/1 104 90 10 31 31 0 FOXE3,missense_variant,p.Phe13Val,ENST00000335071,NM_012186.2; G ENSG00000186790 ENST00000335071 Transcript missense_variant 281/1981 37/960 13/319 F/V Ttc/Gtc 1 1 FOXE3 HGNC HGNC:3808 protein_coding YES CCDS550.1 ENSP00000334472 Q13461 A0A0A1EII5 UPI000012ADD3 NM_012186.2 deleterious_low_confidence(0.03) benign(0.007) 1/1 mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 47416352 DMRTB1 . GRCh38 chr1 53459863 53459863 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.410T>G p.Val137Gly p.V137G ENST00000371445 1/4 84 73 10 30 28 0 DMRTB1,missense_variant,p.Val137Gly,ENST00000371445,NM_033067.2;DMRTB1,upstream_gene_variant,,ENST00000463126,; G ENSG00000143006 ENST00000371445 Transcript missense_variant 465/1910 410/1029 137/342 V/G gTt/gGt 1 1 DMRTB1 HGNC HGNC:13913 protein_coding YES CCDS581.1 ENSP00000360500 Q96MA1 UPI000006FF4C NM_033067.2 tolerated(0.31) benign(0.007) 1/4 hmmpanther:PTHR12322:SF66,hmmpanther:PTHR12322 MODERATE 1 SNV 1 PASS GTT . . 53459863 DMRTB1 . GRCh38 chr1 53459937 53459937 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.484T>G p.Phe162Val p.F162V ENST00000371445 1/4 96 83 11 32 32 0 DMRTB1,missense_variant,p.Phe162Val,ENST00000371445,NM_033067.2;DMRTB1,upstream_gene_variant,,ENST00000463126,; G ENSG00000143006 ENST00000371445 Transcript missense_variant 539/1910 484/1029 162/342 F/V Ttt/Gtt 1 1 DMRTB1 HGNC HGNC:13913 protein_coding YES CCDS581.1 ENSP00000360500 Q96MA1 UPI000006FF4C NM_033067.2 deleterious(0.04) benign(0.026) 1/4 hmmpanther:PTHR12322:SF66,hmmpanther:PTHR12322 MODERATE 1 SNV 1 PASS TTT . . 53459937 FLG2 . GRCh38 chr1 152353047 152353047 + Missense_Mutation SNP G G C rs1255250864 7316-370 BS_HS2BZ6T2 G G c.4739C>G p.Thr1580Ser p.T1580S ENST00000388718 3/3 66 52 10 38 37 1 FLG2,missense_variant,p.Thr1580Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 4812/9124 4739/7176 1580/2391 T/S aCt/aGt rs1255250864,COSM1295098 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS AGT . . 152353047 FAM163A . GRCh38 chr1 179743427 179743427 + Splice_Region SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.-136+4A>C ENST00000341785 98 81 12 37 37 0 FAM163A,splice_region_variant,,ENST00000341785,NM_173509.2;AL359853.3,downstream_gene_variant,,ENST00000423879,;AL359853.3,downstream_gene_variant,,ENST00000451471,;,regulatory_region_variant,,ENSR00000016477,; C ENSG00000143340 ENST00000341785 Transcript splice_region_variant,intron_variant 1 1 FAM163A HGNC HGNC:28274 protein_coding YES CCDS1333.1 ENSP00000354891 Q96GL9 UPI000006ED82 NM_173509.2 1/4 LOW 1 SNV 1 PASS AAC . . 179743427 ZNF678 . GRCh38 chr1 227655521 227655521 + Missense_Mutation SNP A A G novel 7316-370 BS_HS2BZ6T2 A A c.1271A>G p.Lys424Arg p.K424R ENST00000343776 4/4 68 60 5 39 39 0 ZNF678,missense_variant,p.Lys424Arg,ENST00000343776,;ZNF678,missense_variant,p.Lys424Arg,ENST00000397097,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,NM_178549.3;ZNF678,downstream_gene_variant,,ENST00000465266,; G ENSG00000181450 ENST00000343776 Transcript missense_variant 1616/8556 1271/1578 424/525 K/R aAg/aGg 1 1 ZNF678 HGNC HGNC:28652 protein_coding YES ENSP00000344828 Q5SXM1 UPI000019862A tolerated(0.12) probably_damaging(0.983) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF714,hmmpanther:PTHR24377:SF714,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAG . . 227655521 GNG4 . GRCh38 chr1 235649660 235649660 + Splice_Site SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.-123+2T>G ENST00000391854 84 72 8 37 36 1 GNG4,splice_donor_variant,,ENST00000391854,NM_001098722.1;GNG4,intron_variant,,ENST00000366598,NM_004485.3;GNG4,intron_variant,,ENST00000450593,NM_001098721.1;,regulatory_region_variant,,ENSR00000022278,; C ENSG00000168243 ENST00000391854 Transcript splice_donor_variant 1 -1 GNG4 HGNC HGNC:4407 protein_coding YES CCDS1607.1 ENSP00000375727 P50150 B1APZ0 UPI000012B22C NM_001098722.1 1/3 HIGH 1 SNV 1 PASS TAC . . 235649660 FMN2 . GRCh38 chr1 240093082 240093082 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.973T>G p.Phe325Val p.F325V ENST00000319653 1/18 103 76 15 38 37 0 FMN2,missense_variant,p.Phe325Val,ENST00000319653,NM_020066.4,NM_001305424.1;FMN2,intron_variant,,ENST00000447095,;,regulatory_region_variant,,ENSR00000022504,; G ENSG00000155816 ENST00000319653 Transcript missense_variant 1203/6434 973/5169 325/1722 F/V Ttt/Gtt 1 1 FMN2 HGNC HGNC:14074 protein_coding YES CCDS31069.2 ENSP00000318884 Q9NZ56 UPI00015FA087 NM_020066.4,NM_001305424.1 deleterious_low_confidence(0) benign(0.154) 1/18 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF16,Gene3D:2.130.10.10 MODERATE 1 SNV 5 1 PASS ATT . . 240093082 CYS1 . GRCh38 chr2 10080223 10080223 + Translation_Start_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.1A>C p.Met1? p.M1? ENST00000381813 1/3 73 59 10 31 30 1 CYS1,start_lost,p.Met1?,ENST00000381813,NM_001037160.2;AC104794.1,upstream_gene_variant,,ENST00000425235,;CYS1,intron_variant,,ENST00000477304,;,regulatory_region_variant,,ENSR00000112720,; G ENSG00000205795 ENST00000381813 Transcript start_lost 189/2738 1/477 1/158 M/L Atg/Ctg 1 -1 CYS1 HGNC HGNC:18525 protein_coding YES CCDS33145.1 ENSP00000371234 Q717R9 UPI00001D6281 NM_001037160.2 deleterious(0) benign(0.274) 1/3 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 10080223 CTDSP1 . GRCh38 chr2 218400155 218400155 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.65A>C p.Lys22Thr p.K22T ENST00000273062 1/7 82 72 9 39 39 0 CTDSP1,missense_variant,p.Lys22Thr,ENST00000273062,NM_021198.2,NM_182642.2;CTDSP1,missense_variant,p.Lys8Thr,ENST00000452977,;CTDSP1,intron_variant,,ENST00000443891,NM_001206878.1;SLC11A1,downstream_gene_variant,,ENST00000233202,NM_000578.3;CTDSP1,upstream_gene_variant,,ENST00000428361,;CTDSP1,upstream_gene_variant,,ENST00000431127,;MIR26B,upstream_gene_variant,,ENST00000362251,;AC021016.3,upstream_gene_variant,,ENST00000608367,;CTDSP1,intron_variant,,ENST00000473420,;CTDSP1,intron_variant,,ENST00000491064,;CTDSP1,intron_variant,,ENST00000498160,;CTDSP1,upstream_gene_variant,,ENST00000464255,;CTDSP1,upstream_gene_variant,,ENST00000488627,;CTDSP1,downstream_gene_variant,,ENST00000492545,;CTDSP1,upstream_gene_variant,,ENST00000496785,;CTDSP1,splice_region_variant,,ENST00000497677,;CTDSP1,splice_region_variant,,ENST00000494067,;SLC11A1,downstream_gene_variant,,ENST00000354352,;SLC11A1,downstream_gene_variant,,ENST00000465984,;SLC11A1,downstream_gene_variant,,ENST00000468221,;CTDSP1,upstream_gene_variant,,ENST00000482272,;,regulatory_region_variant,,ENSR00000130413,; C ENSG00000144579 ENST00000273062 Transcript missense_variant,splice_region_variant 401/2638 65/786 22/261 K/T aAa/aCa 1 1 CTDSP1 HGNC HGNC:21614 protein_coding YES CCDS2416.1 ENSP00000273062 Q9GZU7 A0A024R461 UPI000013007C NM_021198.2,NM_182642.2 tolerated(0.25) benign(0.04) 1/7 hmmpanther:PTHR12210,hmmpanther:PTHR12210:SF41,mobidb-lite MODERATE 1 SNV 1 PASS AAA . . 218400155 DES . GRCh38 chr2 219418565 219418565 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.103T>G p.Phe35Val p.F35V ENST00000373960 1/9 100 87 11 37 37 0 DES,missense_variant,p.Phe35Val,ENST00000373960,NM_001927.3;DES,upstream_gene_variant,,ENST00000477226,;DES,upstream_gene_variant,,ENST00000492726,;,regulatory_region_variant,,ENSR00000130544,; G ENSG00000175084 ENST00000373960 Transcript missense_variant 189/2248 103/1413 35/470 F/V Ttc/Gtc 1 1 DES HGNC HGNC:2770 protein_coding YES CCDS33383.1 ENSP00000363071 P17661 Q53SB5 UPI0000001603 NM_001927.3 tolerated(0.5) benign(0.096) 1/9 Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF28,Pfam_domain:PF04732 MODERATE 1 SNV 1 1 PASS GTT . . 219418565 SPEG . GRCh38 chr2 219448785 219448785 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.1627A>C p.Lys543Gln p.K543Q ENST00000312358 4/41 90 74 10 34 33 0 SPEG,missense_variant,p.Lys543Gln,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Lys439Gln,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000403148,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000452101,;,regulatory_region_variant,,ENSR00000130551,; C ENSG00000072195 ENST00000312358 Transcript missense_variant 1759/10782 1627/9804 543/3267 K/Q Aag/Cag 1 1 SPEG HGNC HGNC:16901 protein_coding YES CCDS42824.1 ENSP00000311684 Q15772 UPI000066D99E NM_005876.4 tolerated(0.07) benign(0.182) 4/41 hmmpanther:PTHR45065,mobidb-lite MODERATE 1 SNV 5 1 PASS CAA . . 219448785 ALPG . GRCh38 chr2 232408397 232408397 + Missense_Mutation SNP A A G rs1130346 7316-370 BS_HS2BZ6T2 A A c.779A>G p.His260Arg p.H260R ENST00000295453 6/11 60 45 11 22 21 0 ALPG,missense_variant,p.His260Arg,ENST00000295453,NM_031313.2; G ENSG00000163286 ENST00000295453 Transcript missense_variant 831/2493 779/1599 260/532 H/R cAc/cGc rs1130346,COSM4597479 1 1 ALPG HGNC HGNC:441 protein_coding YES CCDS2491.1 ENSP00000295453 P10696 UPI000013E259 NM_031313.2 tolerated(0.49) benign(0.003) 6/11 Gene3D:3.40.720.10,Pfam_domain:PF00245,hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF69,SMART_domains:SM00098,Superfamily_domains:SSF53649,cd16012 0,1 MODERATE 1 SNV 1 0,1 PASS CAC . . 0.07213 0.08225 0.03026 0.1121 0.0131 0.09193 0.098 0.0637 0.04688 232408397 ERFE . GRCh38 chr2 238159150 238159150 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.143A>C p.Asn48Thr p.N48T ENST00000546354 1/8 57 44 12 26 25 0 ERFE,missense_variant,p.Asn48Thr,ENST00000546354,NM_001291832.1;KLHL30-AS1,upstream_gene_variant,,ENST00000623136,;ERFE,non_coding_transcript_exon_variant,,ENST00000486834,;ERFE,upstream_gene_variant,,ENST00000473274,;ERFE,upstream_gene_variant,,ENST00000479091,;ERFE,upstream_gene_variant,,ENST00000481917,;,regulatory_region_variant,,ENSR00000132791,; C ENSG00000178752 ENST00000546354 Transcript missense_variant 143/1065 143/1065 48/354 N/T aAc/aCc 1 1 ERFE HGNC HGNC:26727 protein_coding YES CCDS77548.1 ENSP00000442304 Q4G0M1 UPI0000F07B77 NM_001291832.1 tolerated(0.36) unknown(0) 1/8 hmmpanther:PTHR24019,hmmpanther:PTHR24019:SF11,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 238159150 GAL3ST2 . GRCh38 chr2 241803771 241803771 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.802A>C p.Thr268Pro p.T268P ENST00000192314 4/4 89 77 9 35 35 0 GAL3ST2,missense_variant,p.Thr268Pro,ENST00000192314,NM_022134.2;AC131097.3,downstream_gene_variant,,ENST00000413820,;AC131097.1,upstream_gene_variant,,ENST00000437438,;,regulatory_region_variant,,ENSR00000133335,; C ENSG00000154252 ENST00000192314 Transcript missense_variant 933/1370 802/1197 268/398 T/P Acc/Ccc 1 1 GAL3ST2 HGNC HGNC:24869 protein_coding YES CCDS33427.1 ENSP00000192314 Q9H3Q3 UPI000049DF44 NM_022134.2 tolerated(0.09) possibly_damaging(0.828) 4/4 hmmpanther:PTHR14647:SF55,hmmpanther:PTHR14647,Gene3D:3.40.50.300,Pfam_domain:PF06990 MODERATE 1 SNV 1 PASS GAC . . 241803771 RFTN1 . GRCh38 chr3 16513444 16513444 + Splice_Region SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.-11A>C ENST00000334133 1/10 102 89 9 31 30 0 RFTN1,splice_region_variant,,ENST00000334133,NM_015150.1;RFTN1,intron_variant,,ENST00000431547,;RFTN1,upstream_gene_variant,,ENST00000441460,;RFTN1,upstream_gene_variant,,ENST00000449415,;RFTN1,upstream_gene_variant,,ENST00000451036,;RFTN1,splice_region_variant,,ENST00000453536,;,regulatory_region_variant,,ENSR00000149264,; G ENSG00000131378 ENST00000334133 Transcript splice_region_variant,5_prime_UTR_variant 263/2982 1 -1 RFTN1 HGNC HGNC:30278 protein_coding YES CCDS33712.1 ENSP00000334153 Q14699 UPI00001C1DE7 NM_015150.1 1/10 LOW 1 SNV 1 PASS GTA . . 16513444 P4HTM . GRCh38 chr3 48990258 48990258 + Translation_Start_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.2T>G p.Met1? p.M1? ENST00000343546 1/9 58 43 15 32 30 0 P4HTM,start_lost,p.Met1?,ENST00000343546,NM_177938.2;P4HTM,start_lost,p.Met1?,ENST00000383729,NM_177939.2;ARIH2,downstream_gene_variant,,ENST00000356401,NM_006321.3,NM_001317334.1;P4HTM,upstream_gene_variant,,ENST00000444213,;P4HTM,upstream_gene_variant,,ENST00000475629,;AC137630.4,upstream_gene_variant,,ENST00000609473,;AC137630.1,upstream_gene_variant,,ENST00000452042,;P4HTM,upstream_gene_variant,,ENST00000468374,;P4HTM,upstream_gene_variant,,ENST00000609406,;P4HTM,non_coding_transcript_exon_variant,,ENST00000484115,;P4HTM,non_coding_transcript_exon_variant,,ENST00000472301,;,regulatory_region_variant,,ENSR00000152172,; G ENSG00000178467 ENST00000343546 Transcript start_lost 370/2268 2/1692 1/563 M/R aTg/aGg 1 1 P4HTM HGNC HGNC:28858 protein_coding YES CCDS2781.2 ENSP00000341422 Q9NXG6 UPI0000209C68 NM_177938.2 deleterious_low_confidence(0) benign(0) 1/9 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 48990258 TPRA1 . GRCh38 chr3 127577075 127577075 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.260T>G p.Val87Gly p.V87G ENST00000355552 4/11 98 88 9 31 31 0 TPRA1,missense_variant,p.Val87Gly,ENST00000355552,NM_001136053.2;TPRA1,missense_variant,p.Val87Gly,ENST00000489960,;TPRA1,missense_variant,p.Val87Gly,ENST00000450633,;TPRA1,missense_variant,p.Val87Gly,ENST00000296210,NM_001142646.2;TPRA1,missense_variant,p.Val87Gly,ENST00000469111,;TPRA1,missense_variant,p.Val87Gly,ENST00000490290,;TPRA1,missense_variant,p.Val87Gly,ENST00000490643,;TPRA1,downstream_gene_variant,,ENST00000462228,;MIR6825,upstream_gene_variant,,ENST00000618505,;TPRA1,upstream_gene_variant,,ENST00000465915,;TPRA1,missense_variant,p.Val87Gly,ENST00000393400,;TPRA1,missense_variant,p.Val87Gly,ENST00000483868,; C ENSG00000163870 ENST00000355552 Transcript missense_variant,splice_region_variant 637/1933 260/1122 87/373 V/G gTg/gGg 1 -1 TPRA1 HGNC HGNC:30413 protein_coding YES CCDS3042.1 ENSP00000347748 Q86W33 UPI00000373F2 NM_001136053.2 deleterious(0) probably_damaging(0.927) 4/11 Transmembrane_helices:TMhelix,hmmpanther:PTHR15876,Pfam_domain:PF10160 MODERATE 1 SNV 1 PASS CAC . . 127577075 RUVBL1 . GRCh38 chr3 128123594 128123594 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.131A>C p.Asn44Thr p.N44T ENST00000322623 1/11 95 78 16 26 25 0 RUVBL1,missense_variant,p.Asn44Thr,ENST00000322623,NM_003707.2,NM_001319084.1;RUVBL1,intron_variant,,ENST00000464873,NM_001319086.1;,regulatory_region_variant,,ENSR00000158057,; G ENSG00000175792 ENST00000322623 Transcript missense_variant 231/1761 131/1371 44/456 N/T aAc/aCc 1 -1 RUVBL1 HGNC HGNC:10474 protein_coding YES CCDS3047.1 ENSP00000318297 Q9Y265 UPI0000044739 NM_003707.2,NM_001319084.1 tolerated(0.35) benign(0) 1/11 cd00009,hmmpanther:PTHR11093:SF6,hmmpanther:PTHR11093,Pfam_domain:PF06068,Gene3D:3.40.50.300,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS GTT . . 128123594 ATP11B . GRCh38 chr3 182793760 182793760 + Translation_Start_Site SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.1A>C p.Met1? p.M1? ENST00000323116 1/30 89 65 20 33 33 0 ATP11B,start_lost,p.Met1?,ENST00000323116,NM_014616.2;ATP11B,start_lost,p.Met1?,ENST00000493826,;AC069431.1,upstream_gene_variant,,ENST00000488882,;,regulatory_region_variant,,ENSR00000162738,; C ENSG00000058063 ENST00000323116 Transcript start_lost 261/7325 1/3534 1/1177 M/L Atg/Ctg 1 1 ATP11B HGNC HGNC:13553 protein_coding YES CCDS33896.1 ENSP00000321195 Q9Y2G3 UPI000004124E NM_014616.2 tolerated_low_confidence(0.11) benign(0.267) 1/30 HIGH 1 SNV 2 PASS AAT . . 182793760 MFSD10 . GRCh38 chr4 2931432 2931432 + Missense_Mutation SNP T T G rs1168813629 7316-370 BS_HS2BZ6T2 T T c.1057A>C p.Ile353Leu p.I353L ENST00000329687 9/12 97 83 12 32 31 0 MFSD10,missense_variant,p.Ile353Leu,ENST00000329687,NM_001120.4;MFSD10,missense_variant,p.Ile353Leu,ENST00000514800,;MFSD10,missense_variant,p.Ile353Leu,ENST00000355443,NM_001146069.1;MFSD10,synonymous_variant,p.Ser316=,ENST00000507555,;MFSD10,intron_variant,,ENST00000508221,;ADD1,downstream_gene_variant,,ENST00000264758,NM_014189.3;ADD1,downstream_gene_variant,,ENST00000355842,NM_001286645.1;ADD1,downstream_gene_variant,,ENST00000398123,;ADD1,downstream_gene_variant,,ENST00000398125,NM_176801.2;ADD1,downstream_gene_variant,,ENST00000398129,NM_001119.4,NM_001354755.1,NM_001354754.1;ADD1,downstream_gene_variant,,ENST00000446856,;ADD1,downstream_gene_variant,,ENST00000503455,;ADD1,downstream_gene_variant,,ENST00000513328,NM_014190.3;ADD1,downstream_gene_variant,,ENST00000514940,;ADD1,downstream_gene_variant,,ENST00000536424,;ADD1,downstream_gene_variant,,ENST00000541843,;NOP14-AS1,upstream_gene_variant,,ENST00000505731,;NOP14-AS1,upstream_gene_variant,,ENST00000507999,;NOP14-AS1,upstream_gene_variant,,ENST00000512712,;NOP14-AS1,upstream_gene_variant,,ENST00000515194,;ADD1,downstream_gene_variant,,ENST00000538860,;MFSD10,3_prime_UTR_variant,,ENST00000503596,;MFSD10,3_prime_UTR_variant,,ENST00000507272,;MFSD10,non_coding_transcript_exon_variant,,ENST00000514031,;MFSD10,non_coding_transcript_exon_variant,,ENST00000512781,;MFSD10,non_coding_transcript_exon_variant,,ENST00000508276,;ADD1,downstream_gene_variant,,ENST00000503062,;MFSD10,downstream_gene_variant,,ENST00000509676,;ADD1,downstream_gene_variant,,ENST00000513762,; G ENSG00000109736 ENST00000329687 Transcript missense_variant 1592/2173 1057/1368 353/455 I/L Atc/Ctc rs1168813629 1 -1 MFSD10 HGNC HGNC:16894 protein_coding YES CCDS3365.1 ENSP00000332646 Q14728 UPI0000073302 NM_001120.4 deleterious(0.04) possibly_damaging(0.517) 9/12 Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23504,hmmpanther:PTHR23504:SF31,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix,cd06174 MODERATE 1 SNV 1 PASS ATG . . 2931432 IGFBP7 . GRCh38 chr4 57110168 57110168 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.184A>C p.Met62Leu p.M62L ENST00000295666 1/5 77 61 13 40 40 0 IGFBP7,missense_variant,p.Met62Leu,ENST00000295666,NM_001553.2;IGFBP7,missense_variant,p.Met62Leu,ENST00000514062,NM_001253835.1;IGFBP7-AS1,intron_variant,,ENST00000499667,;IGFBP7-AS1,intron_variant,,ENST00000508328,;,regulatory_region_variant,,ENSR00000168735,; G ENSG00000163453 ENST00000295666 Transcript missense_variant 218/1427 184/849 62/282 M/L Atg/Ctg 1 -1 IGFBP7 HGNC HGNC:5476 protein_coding YES CCDS3512.1 ENSP00000295666 Q16270 UPI00000422D2 NM_001553.2 tolerated(0.63) benign(0) 1/5 PROSITE_profiles:PS51323,hmmpanther:PTHR14186:SF15,hmmpanther:PTHR14186,Pfam_domain:PF00219,PIRSF_domain:PIRSF018239,SMART_domains:SM00121,Superfamily_domains:SSF57184 MODERATE 1 SNV 1 1 PASS ATA . . 57110168 CXXC4 . GRCh38 chr4 104491484 104491484 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.319A>C p.Ser107Arg p.S107R ENST00000394767 2/3 45 23 14 21 20 0 CXXC4,missense_variant,p.Ser107Arg,ENST00000394767,NM_025212.3;CXXC4-AS1,intron_variant,,ENST00000500179,;CXXC4,intron_variant,,ENST00000466963,;,regulatory_region_variant,,ENSR00000171402,; G ENSG00000168772 ENST00000394767 Transcript missense_variant 770/5565 319/1104 107/367 S/R Agc/Cgc 1 -1 CXXC4 HGNC HGNC:24593 protein_coding YES CCDS3665.2 ENSP00000378248 J9JIF5 UPI0000E5AC2D NM_025212.3 deleterious_low_confidence(0) unknown(0) 2/3 Low_complexity_(Seg):seg MODERATE SNV 5 PASS CTG . . 104491484 ADAM29 . GRCh38 chr4 174977829 174977829 + Missense_Mutation SNP T T G rs200904503 7316-370 BS_HS2BZ6T2 T T c.2304T>G p.Ser768Arg p.S768R ENST00000615367 6/6 85 71 9 38 36 0 ADAM29,missense_variant,p.Ser768Arg,ENST00000615367,NM_001278125.1;ADAM29,missense_variant,p.Ser768Arg,ENST00000359240,NM_014269.4,NM_001278126.1;ADAM29,missense_variant,p.Ser768Arg,ENST00000445694,NM_001130703.1;ADAM29,missense_variant,p.Ser768Arg,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Ser768Arg,ENST00000514159,NM_001130705.1;ADAM29,missense_variant,p.Ser768Arg,ENST00000618444,NM_001278127.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000502940,;ADAM29,downstream_gene_variant,,ENST00000505141,;AC105914.2,intron_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,; G ENSG00000168594 ENST00000615367 Transcript missense_variant 3035/3386 2304/2463 768/820 S/R agT/agG rs200904503,COSM6334586 1 1 ADAM29 HGNC HGNC:207 protein_coding YES CCDS3823.1 ENSP00000484862 Q9UKF5 A0A140VJD8 UPI000013E9DE NM_001278125.1 tolerated(0.26) benign(0.164) 6/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11905:SF34,hmmpanther:PTHR11905 0,1 MODERATE SNV 5 0,1 PASS GTC . . 174977829 TRIO . GRCh38 chr5 14487859 14487859 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.7231A>C p.Lys2411Gln p.K2411Q ENST00000344204 48/57 80 71 8 38 37 0 TRIO,missense_variant,p.Lys2411Gln,ENST00000344204,NM_007118.3;TRIO,missense_variant,p.Lys2144Gln,ENST00000513206,;TRIO,intron_variant,,ENST00000620511,;TRIO,upstream_gene_variant,,ENST00000344135,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;TRIO,intron_variant,,ENST00000512070,;TRIO,upstream_gene_variant,,ENST00000503399,;TRIO,downstream_gene_variant,,ENST00000510281,;,regulatory_region_variant,,ENSR00000178354,; C ENSG00000038382 ENST00000344204 Transcript missense_variant 7255/11100 7231/9294 2411/3097 K/Q Aag/Cag 1 1 TRIO HGNC HGNC:12303 protein_coding YES CCDS3883.1 ENSP00000339299 O75962 UPI000034ECE6 NM_007118.3 deleterious_low_confidence(0.02) possibly_damaging(0.895) 48/57 hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF104,mobidb-lite MODERATE 1 SNV 1 1 PASS CAA . . 14487859 MARCH11 . GRCh38 chr5 16179229 16179229 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.347A>C p.Lys116Thr p.K116T ENST00000332432 1/4 87 73 12 25 25 0 MARCH11,missense_variant,p.Lys116Thr,ENST00000332432,NM_001102562.1;MARCH11,upstream_gene_variant,,ENST00000507111,;AC092335.1,upstream_gene_variant,,ENST00000509037,;MARCH11,intron_variant,,ENST00000505509,; G ENSG00000183654 ENST00000332432 Transcript missense_variant 547/1741 347/1209 116/402 K/T aAa/aCa 1 -1 MARCH11 HGNC HGNC:33609 protein_coding YES CCDS47192.1 ENSP00000333181 A6NNE9 UPI00015B3D4A NM_001102562.1 deleterious(0.04) benign(0.051) 1/4 hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF67,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS TTT . . 16179229 CAST . GRCh38 chr5 96662494 96662494 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.72T>G p.His24Gln p.H24Q ENST00000395812 1/30 97 81 12 27 27 0 CAST,missense_variant,p.His24Gln,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Gln,ENST00000508830,;CAST,missense_variant,p.His24Gln,ENST00000510756,;CAST,missense_variant,p.His24Gln,ENST00000511097,;CAST,missense_variant,p.His24Gln,ENST00000421689,;CAST,missense_variant,p.His7Gln,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; G ENSG00000153113 ENST00000395812 Transcript missense_variant 258/4506 72/2253 24/750 H/Q caT/caG 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 tolerated_low_confidence(1) benign(0) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS ATG . . 96662494 WRNIP1 . GRCh38 chr6 2766032 2766032 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.410A>C p.Lys137Thr p.K137T ENST00000380773 1/7 59 46 10 27 26 0 WRNIP1,missense_variant,p.Lys137Thr,ENST00000380773,;WRNIP1,missense_variant,p.Lys137Thr,ENST00000618555,NM_020135.2;WRNIP1,missense_variant,p.Lys137Thr,ENST00000380771,NM_130395.2;WRNIP1,upstream_gene_variant,,ENST00000380764,;WRNIP1,upstream_gene_variant,,ENST00000380769,;,regulatory_region_variant,,ENSR00000192107,; C ENSG00000124535 ENST00000380773 Transcript missense_variant 619/2670 410/1998 137/665 K/T aAg/aCg 1 1 WRNIP1 HGNC HGNC:20876 protein_coding YES CCDS4475.1 ENSP00000370150 Q96S55 UPI000004A506 deleterious_low_confidence(0.03) benign(0.227) 1/7 hmmpanther:PTHR13779,hmmpanther:PTHR13779:SF7,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAG . . 2766032 MDC1 . GRCh38 chr6 30704981 30704981 + Missense_Mutation SNP C C A rs748601560 7316-370 BS_HS2BZ6T2 C C c.4202G>T p.Gly1401Val p.G1401V ENST00000376406 10/15 59 45 12 36 30 1 MDC1,missense_variant,p.Gly1401Val,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 4850/7576 4202/6270 1401/2089 G/V gGc/gTc rs748601560 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(1) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GCC . . 0.007351 0.01338 0.01103 0.003108 0.01969 0.0009711 0.005031 0.01102 0.009859 30704981 HLA-B . GRCh38 chr6 31356751 31356751 + Missense_Mutation SNP G G T rs1071817 7316-370 BS_HS2BZ6T2 G G c.280C>A p.Gln94Lys p.Q94K ENST00000412585 2/8 36 28 5 20 20 0 HLA-B,missense_variant,p.Gln94Lys,ENST00000412585,NM_005514.7;HLA-B,missense_variant,p.Gln94Lys,ENST00000639848,;HLA-B,missense_variant,p.Gln105Lys,ENST00000434333,;HLA-B,upstream_gene_variant,,ENST00000640094,;HLA-B,upstream_gene_variant,,ENST00000640615,;MIR6891,upstream_gene_variant,,ENST00000618788,;HLA-B,non_coding_transcript_exon_variant,,ENST00000474381,;HLA-B,non_coding_transcript_exon_variant,,ENST00000498007,;HLA-B,upstream_gene_variant,,ENST00000463574,;HLA-B,upstream_gene_variant,,ENST00000481849,;HLA-B,upstream_gene_variant,,ENST00000497377,;,regulatory_region_variant,,ENSR00000195527,;AL671883.2,non_coding_transcript_exon_variant,,ENST00000603274,; T ENSG00000234745 ENST00000412585 Transcript missense_variant 309/1547 280/1089 94/362 Q/K Cag/Aag rs1071817,COSM4160816 1 -1 HLA-B HGNC HGNC:4932 protein_coding YES CCDS34394.1 ENSP00000399168 Q31610,Q31612,Q29836,P30486,P30480,P01889 E5FQ95 UPI0000000B17 NM_005514.7 tolerated_low_confidence(0.19) benign(0) 2/8 PDB-ENSP_mappings:3vcl.A,PDB-ENSP_mappings:4u1h.A,PDB-ENSP_mappings:4u1k.A,PDB-ENSP_mappings:4u1k.D,PDB-ENSP_mappings:5eo0.A,PDB-ENSP_mappings:5eo1.A,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF186,Prints_domain:PR01638 0.7035 0.853 0.6538 0.7664 0.7802 0.09302 0.1455 0,1 MODERATE 1 SNV 0,1 1 PASS TGG . . 0.03735 0.009971 0.01639 0.0162 0.03622 0.08055 0.04599 0.04743 0.02015 31356751 HLA-DRB1 . GRCh38 chr6 32584184 32584185 + Frame_Shift_Ins INS - - TC rs28986201 7316-370 BS_HS2BZ6T2 - - c.294_295insGA p.Gln99AspfsTer31 p.Q99Dfs*31 ENST00000360004 2/6 34 22 6 21 20 0 HLA-DRB1,frameshift_variant,p.Gln99AspfsTer31,ENST00000360004,NM_002124.3;,regulatory_region_variant,,ENSR00000195690,; TC ENSG00000196126 ENST00000360004 Transcript frameshift_variant 400-401/1229 294-295/801 98-99/266 -/X -/GA rs28986201 1 -1 HLA-DRB1 HGNC HGNC:4948 protein_coding YES CCDS47409.1 ENSP00000353099 Q29974,P01911,Q9GIY3,P04229 X5DNQ0,D7RIH8 UPI000008A1F7 NM_002124.3 2/6 PDB-ENSP_mappings:1bx2.B,PDB-ENSP_mappings:1bx2.E,PDB-ENSP_mappings:1ymm.B,PDB-ENSP_mappings:2wbj.B,PDB-ENSP_mappings:2wbj.F,PDB-ENSP_mappings:5v4m.C,PDB-ENSP_mappings:5v4m.F,PDB-ENSP_mappings:5v4m.I,PDB-ENSP_mappings:5v4m.L,Gene3D:3.10.320.10,Pfam_domain:PF00969,SMART_domains:SM00921,Superfamily_domains:SSF54452,hmmpanther:PTHR19944:SF84,hmmpanther:PTHR19944,blastprodom:PD000328 HIGH 1 insertion 1 PASS TGC . . 32584184 HLA-DRB1 . GRCh38 chr6 32584213 32584213 + Missense_Mutation SNP T T G rs1059586 7316-370 BS_HS2BZ6T2 T T c.266A>C p.Tyr89Ser p.Y89S ENST00000360004 2/6 46 34 8 21 16 0 HLA-DRB1,missense_variant,p.Tyr89Ser,ENST00000360004,NM_002124.3;,regulatory_region_variant,,ENSR00000195690,; G ENSG00000196126 ENST00000360004 Transcript missense_variant 372/1229 266/801 89/266 Y/S tAc/tCc rs1059586,COSM4006429 1 -1 HLA-DRB1 HGNC HGNC:4948 protein_coding YES CCDS47409.1 ENSP00000353099 Q29974,P01911,Q9GIY3,P04229 X5DNQ0,D7RIH8 UPI000008A1F7 NM_002124.3 tolerated(0.15) benign(0.003) 2/6 PDB-ENSP_mappings:1bx2.B,PDB-ENSP_mappings:1bx2.E,PDB-ENSP_mappings:1ymm.B,PDB-ENSP_mappings:2wbj.B,PDB-ENSP_mappings:2wbj.F,PDB-ENSP_mappings:5v4m.C,PDB-ENSP_mappings:5v4m.F,PDB-ENSP_mappings:5v4m.I,PDB-ENSP_mappings:5v4m.L,Gene3D:3.10.320.10,Pfam_domain:PF00969,SMART_domains:SM00921,Superfamily_domains:SSF54452,hmmpanther:PTHR19944:SF84,hmmpanther:PTHR19944,blastprodom:PD000328 0,1 MODERATE 1 SNV 0,1 1 PASS GTA . . 0.005592 0.01228 0.003068 0.005991 0.02188 0.001548 0.004304 0.007061 0.005678 32584213 C6orf132 . GRCh38 chr6 42106576 42106576 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.1336A>C p.Asn446His p.N446H ENST00000341865 4/5 79 59 13 32 31 0 C6orf132,missense_variant,p.Asn446His,ENST00000341865,NM_001164446.2;,regulatory_region_variant,,ENSR00000196928,; G ENSG00000188112 ENST00000341865 Transcript missense_variant 1336/6210 1336/3567 446/1188 N/H Aac/Cac 1 -1 C6orf132 HGNC HGNC:21288 protein_coding YES CCDS47428.1 ENSP00000341368 Q5T0Z8 UPI0001A5E4A3 NM_001164446.2 deleterious_low_confidence(0.02) benign(0.19) 4/5 hmmpanther:PTHR35077,hmmpanther:PTHR35077:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TTG . . 42106576 TTBK1 . GRCh38 chr6 43285237 43285237 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.3827T>G p.Val1276Gly p.V1276G ENST00000259750 15/15 82 64 15 31 29 1 TTBK1,missense_variant,p.Val1276Gly,ENST00000259750,NM_032538.1;,regulatory_region_variant,,ENSR00000197114,; G ENSG00000146216 ENST00000259750 Transcript missense_variant 3910/6932 3827/3966 1276/1321 V/G gTc/gGc 1 1 TTBK1 HGNC HGNC:19140 protein_coding YES CCDS34455.1 ENSP00000259750 Q5TCY1 UPI000041512B NM_032538.1 deleterious_low_confidence(0.02) benign(0) 15/15 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTC . . 43285237 NFKBIE . GRCh38 chr6 44265415 44265415 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.349A>C p.Lys117Gln p.K117Q ENST00000275015 1/6 119 105 12 38 38 0 NFKBIE,missense_variant,p.Lys117Gln,ENST00000275015,NM_004556.2;NFKBIE,5_prime_UTR_variant,,ENST00000619360,;NFKBIE,5_prime_UTR_variant,,ENST00000477930,;,regulatory_region_variant,,ENSR00000197296,; G ENSG00000146232 ENST00000275015 Transcript missense_variant 374/2581 349/1503 117/500 K/Q Aag/Cag 1 -1 NFKBIE HGNC HGNC:7799 protein_coding YES CCDS34463.1 ENSP00000275015 O00221 A0A024RD24 UPI000013DA3C NM_004556.2 deleterious_low_confidence(0) benign(0.175) 1/6 mobidb-lite MODERATE 1 SNV 1 1 PASS TTT . . 44265415 REV3L . GRCh38 chr6 111363982 111363983 + Splice_Region INS - - A rs55888664 7316-370 BS_HS2BZ6T2 - - c.6754-5dup ENST00000358835 85 71 6 29 29 0 REV3L,splice_region_variant,,ENST00000358835,NM_002912.4;REV3L,splice_region_variant,,ENST00000368802,;REV3L,splice_region_variant,,ENST00000368805,;REV3L,splice_region_variant,,ENST00000435970,NM_001286431.1,NM_001286432.1;REV3L-IT1,upstream_gene_variant,,ENST00000411895,;REV3L,splice_region_variant,,ENST00000413831,;REV3L,splice_region_variant,,ENST00000422377,;REV3L,splice_region_variant,,ENST00000434009,; A ENSG00000009413 ENST00000358835 Transcript splice_region_variant,intron_variant rs55888664 1 -1 REV3L HGNC HGNC:9968 protein_coding YES CCDS5091.2 ENSP00000351697 O60673 UPI0000140023 NM_002912.4 16/32 0.0040 0.0129 0.002 0.001 0.009615 0.002181 LOW 1 insertion 5 1 PASS ATA . . 0.004742 0.01258 0.009839 0.006159 0.005393 0.002023 0.002584 0.006886 0.005282 111363982 PHACTR2 . GRCh38 chr6 143536992 143536992 + Translation_Start_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.2T>G p.Met1? p.M1? ENST00000367584 1/12 87 79 7 33 33 0 PHACTR2,start_lost,p.Met1?,ENST00000367584,;,regulatory_region_variant,,ENSR00000204329,; G ENSG00000112419 ENST00000367584 Transcript start_lost 148/2490 2/1869 1/622 M/R aTg/aGg 1 1 PHACTR2 HGNC HGNC:20956 protein_coding ENSP00000356556 J3KP75 UPI000204A7BE deleterious_low_confidence(0) benign(0.007) 1/12 mobidb-lite HIGH 1 SNV 5 PASS ATG . . 143536992 ARID1B . GRCh38 chr6 156779292 156779292 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.1363T>G p.Ser455Ala p.S455A ENST00000346085 1/20 53 42 6 27 26 0 ARID1B,missense_variant,p.Ser455Ala,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Ser455Ala,ENST00000636930,;ARID1B,missense_variant,p.Ser455Ala,ENST00000350026,NM_017519.2;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000604082,;MIR4466,downstream_gene_variant,,ENST00000606121,;AL355297.4,upstream_gene_variant,,ENST00000603191,;AL355297.2,downstream_gene_variant,,ENST00000604792,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; G ENSG00000049618 ENST00000346085 Transcript missense_variant 1919/10194 1363/6750 455/2249 S/A Tcc/Gcc 1 1 ARID1B HGNC HGNC:18040 protein_coding YES CCDS55072.1 ENSP00000344546 Q8NFD5 UPI000058E4B2 NM_020732.3 tolerated_low_confidence(0.34) benign(0) 1/20 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:3.40.50.1980 MODERATE 1 SNV 1 1 PASS GTC . . 156779292 FZD1 . GRCh38 chr7 91264940 91264940 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.60A>C p.Glu20Asp p.E20D ENST00000287934 1/1 103 84 14 36 36 0 FZD1,missense_variant,p.Glu20Asp,ENST00000287934,NM_003505.1;,regulatory_region_variant,,ENSR00000215007,; C ENSG00000157240 ENST00000287934 Transcript missense_variant 577/6963 60/1944 20/647 E/D gaA/gaC 1 1 FZD1 HGNC HGNC:4038 protein_coding YES CCDS5620.1 ENSP00000287934 Q9UP38 UPI000005104D NM_003505.1 deleterious_low_confidence(0) benign(0.005) 1/1 hmmpanther:PTHR11309:SF81,hmmpanther:PTHR11309 MODERATE 1 SNV PASS AAC . . 91264940 PPP1R35 . GRCh38 chr7 100435903 100435903 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.396A>C p.Glu132Asp p.E132D ENST00000292330 2/4 119 97 17 34 34 0 PPP1R35,missense_variant,p.Glu132Asp,ENST00000292330,NM_145030.2;MEPCE,downstream_gene_variant,,ENST00000310512,NM_019606.5;MEPCE,downstream_gene_variant,,ENST00000414441,NM_001194991.1,NM_001194990.1,NM_001194992.1;AC092849.2,intron_variant,,ENST00000492523,;AC092849.1,upstream_gene_variant,,ENST00000475250,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000476185,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000487452,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000491407,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000470295,;MEPCE,downstream_gene_variant,,ENST00000479201,;MEPCE,downstream_gene_variant,,ENST00000497759,;,regulatory_region_variant,,ENSR00000215791,; G ENSG00000160813 ENST00000292330 Transcript missense_variant 587/1031 396/762 132/253 E/D gaA/gaC 1 -1 PPP1R35 HGNC HGNC:28320 protein_coding YES CCDS5694.1 ENSP00000292330 Q8TAP8 UPI000006D9DB NM_145030.2 tolerated(0.1) probably_damaging(0.986) 2/4 hmmpanther:PTHR28625,Pfam_domain:PF15503 MODERATE 1 SNV 1 PASS GTT . . 100435903 MUC17 . GRCh38 chr7 101038666 101038666 + Missense_Mutation SNP A A T rs139220229 7316-370 BS_HS2BZ6T2 A A c.7250A>T p.His2417Leu p.H2417L ENST00000306151 3/13 88 77 8 32 31 0 MUC17,missense_variant,p.His2417Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.His2417Leu,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 7314/14247 7250/13482 2417/4493 H/L cAt/cTt rs139220229,COSM4161663 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 1.736e-05 0.0001985 9.3e-06 101038666 MUC17 . GRCh38 chr7 101039952 101039952 + Missense_Mutation SNP A A G rs151242026 7316-370 BS_HS2BZ6T2 A A c.8536A>G p.Lys2846Glu p.K2846E ENST00000306151 3/13 73 60 9 38 38 0 MUC17,missense_variant,p.Lys2846Glu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Lys2846Glu,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 8600/14247 8536/13482 2846/4493 K/E Aaa/Gaa rs151242026 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.57) benign(0.003) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAA . . 3.694e-05 0.0005245 5.829e-05 101039952 ARF5 . GRCh38 chr7 127588512 127588512 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.14T>G p.Val5Gly p.V5G ENST00000000233 1/6 110 95 12 33 32 0 ARF5,missense_variant,p.Val5Gly,ENST00000000233,NM_001662.3;ARF5,missense_variant,p.Val5Gly,ENST00000415666,;GCC1,upstream_gene_variant,,ENST00000321407,NM_024523.5;ARF5,non_coding_transcript_exon_variant,,ENST00000467281,;GCC1,intron_variant,,ENST00000497650,;GCC1,downstream_gene_variant,,ENST00000473728,;FSCN3,upstream_gene_variant,,ENST00000478328,;ARF5,non_coding_transcript_exon_variant,,ENST00000463733,;ARF5,non_coding_transcript_exon_variant,,ENST00000489673,;ARF5,upstream_gene_variant,,ENST00000459680,;,regulatory_region_variant,,ENSR00000217610,; G ENSG00000004059 ENST00000000233 Transcript missense_variant 168/1103 14/543 5/180 V/G gTg/gGg 1 1 ARF5 HGNC HGNC:658 protein_coding YES CCDS34745.1 ENSP00000000233 P84085 A4D0Z3 UPI0000044DA0 NM_001662.3 deleterious_low_confidence(0.03) benign(0.171) 1/6 hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF307,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00178 MODERATE 1 SNV 1 PASS GTG . . 127588512 FLNC . GRCh38 chr7 128830953 128830953 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.316T>G p.Phe106Val p.F106V ENST00000325888 1/48 89 73 12 41 40 1 FLNC,missense_variant,p.Phe106Val,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Phe106Val,ENST00000346177,NM_001127487.1;,regulatory_region_variant,,ENSR00000217783,; G ENSG00000128591 ENST00000325888 Transcript missense_variant 577/9188 316/8178 106/2725 F/V Ttc/Gtc 1 1 FLNC HGNC HGNC:3756 protein_coding YES CCDS43644.1 ENSP00000327145 Q14315 UPI000006DE6D NM_001458.4 deleterious(0) probably_damaging(0.989) 1/48 Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR43998,hmmpanther:PTHR43998:SF4,SMART_domains:SM00033,Superfamily_domains:SSF47576,cd00014 MODERATE 1 SNV 1 1 PASS GTT . . 128830953 CREB3L2 . GRCh38 chr7 138001704 138001704 + Translation_Start_Site SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.2T>G p.Met1? p.M1? ENST00000330387 1/12 102 88 12 48 48 0 CREB3L2,start_lost,p.Met1?,ENST00000330387,NM_194071.3,NM_001318246.1;CREB3L2,start_lost,p.Met1?,ENST00000616381,;CREB3L2,start_lost,p.Met1?,ENST00000456390,;CREB3L2,start_lost,p.Met1?,ENST00000452463,NM_001253775.1;CREB3L2,start_lost,p.Met1?,ENST00000620715,;CREB3L2,non_coding_transcript_exon_variant,,ENST00000468127,;AKR1D1,upstream_gene_variant,,ENST00000468877,;,regulatory_region_variant,,ENSR00000218824,; C ENSG00000182158 ENST00000330387 Transcript start_lost 354/7412 2/1563 1/520 M/R aTg/aGg 1 -1 CREB3L2 HGNC HGNC:23720 protein_coding YES CCDS34760.1 ENSP00000329140 Q70SY1 UPI0000457614 NM_194071.3,NM_001318246.1 deleterious_low_confidence(0) benign(0.205) 1/12 HIGH 1 SNV 1 1 PASS CAT . . 138001704 TRIM24 . GRCh38 chr7 138460910 138460910 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.362A>C p.Gln121Pro p.Q121P ENST00000343526 1/19 95 76 14 26 26 0 TRIM24,missense_variant,p.Gln121Pro,ENST00000343526,NM_015905.2;TRIM24,missense_variant,p.Gln121Pro,ENST00000415680,NM_003852.3;TRIM24,upstream_gene_variant,,ENST00000497516,;,regulatory_region_variant,,ENSR00000218861,; C ENSG00000122779 ENST00000343526 Transcript missense_variant,splice_region_variant 577/8410 362/3153 121/1050 Q/P cAa/cCa 1 1 TRIM24 HGNC HGNC:11812 protein_coding YES CCDS5847.1 ENSP00000340507 O15164 UPI00000012CB NM_015905.2 tolerated(0.49) benign(0) 1/19 cd16764,Gene3D:3.30.40.10,SMART_domains:SM00184,PROSITE_profiles:PS50089 MODERATE 1 SNV 1 1 PASS CAA . . 138460910 ESYT2 . GRCh38 chr7 158829459 158829459 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.104A>C p.Gln35Pro p.Q35P ENST00000251527 1/22 83 64 16 40 40 0 ESYT2,missense_variant,p.Gln35Pro,ENST00000251527,NM_020728.2;ESYT2,missense_variant,p.Gln5Pro,ENST00000275418,;ESYT2,missense_variant,p.Ser91Arg,ENST00000613624,;ESYT2,intron_variant,,ENST00000497111,;ESYT2,upstream_gene_variant,,ENST00000483958,;,regulatory_region_variant,,ENSR00000220327,; G ENSG00000117868 ENST00000251527 Transcript missense_variant 170/5960 104/2682 35/893 Q/P cAg/cCg 1 -1 ESYT2 HGNC HGNC:22211 protein_coding YES CCDS34791.1 ENSP00000251527 A0FGR8 UPI00002339BD NM_020728.2 tolerated_low_confidence(0.17) benign(0) 1/22 mobidb-lite MODERATE 1 SNV 1 PASS CTG . . 158829459 FBXL6 . GRCh38 chr8 144358104 144358104 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.344T>G p.Ile115Ser p.I115S ENST00000331890 1/9 117 106 11 30 29 0 FBXL6,missense_variant,p.Ile115Ser,ENST00000331890,NM_012162.3;FBXL6,missense_variant,p.Ile115Ser,ENST00000455319,NM_024555.5;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,upstream_gene_variant,,ENST00000329994,NM_024531.4;SLC52A2,upstream_gene_variant,,ENST00000402965,NM_001253815.1;SLC52A2,upstream_gene_variant,,ENST00000526338,;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000527078,;SLC52A2,upstream_gene_variant,,ENST00000530047,NM_001253816.1;SLC52A2,upstream_gene_variant,,ENST00000532887,;SLC52A2,upstream_gene_variant,,ENST00000534725,;TMEM249,upstream_gene_variant,,ENST00000562477,NM_001252404.2;TMEM249,upstream_gene_variant,,ENST00000565365,NM_001252402.2,NM_001280561.1;SLC52A2,upstream_gene_variant,,ENST00000643944,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530687,;SLC52A2,intron_variant,,ENST00000532815,;FBXL6,upstream_gene_variant,,ENST00000524909,;FBXL6,upstream_gene_variant,,ENST00000526524,;SLC52A2,upstream_gene_variant,,ENST00000526891,;FBXL6,upstream_gene_variant,,ENST00000527000,;SLC52A2,downstream_gene_variant,,ENST00000644270,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530142,;FBXL6,upstream_gene_variant,,ENST00000524492,;SLC52A2,upstream_gene_variant,,ENST00000526779,;FBXL6,upstream_gene_variant,,ENST00000529279,;AC233992.2,upstream_gene_variant,,ENST00000531225,;SLC52A2,upstream_gene_variant,,ENST00000533662,;TMEM249,upstream_gene_variant,,ENST00000561638,;,regulatory_region_variant,,ENSR00000232236,; C ENSG00000182325 ENST00000331890 Transcript missense_variant 409/1785 344/1620 115/539 I/S aTt/aGt 1 -1 FBXL6 HGNC HGNC:13603 protein_coding YES CCDS6422.1 ENSP00000330098 Q8N531 UPI0002064E15 NM_012162.3 deleterious(0) possibly_damaging(0.791) 1/9 Gene3D:3.80.10.10,Pfam_domain:PF12937,hmmpanther:PTHR44721,Superfamily_domains:SSF81383 MODERATE 1 SNV 1 PASS AAT . . 144358104 C9orf66 . GRCh38 chr9 215126 215126 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.271A>C p.Met91Leu p.M91L ENST00000382387 1/1 127 115 11 35 35 0 C9orf66,missense_variant,p.Met91Leu,ENST00000382387,NM_152569.2;DOCK8,intron_variant,,ENST00000432829,NM_203447.3;DOCK8,upstream_gene_variant,,ENST00000479404,;DOCK8,intron_variant,,ENST00000454469,;DOCK8,intron_variant,,ENST00000469197,;DOCK8,intron_variant,,ENST00000524396,;,regulatory_region_variant,,ENSR00000232352,; G ENSG00000183784 ENST00000382387 Transcript missense_variant 616/2918 271/888 91/295 M/L Atg/Ctg 1 -1 C9orf66 HGNC HGNC:26436 protein_coding YES CCDS6439.1 ENSP00000371824 Q5T8R8 UPI00001AFE3A NM_152569.2 tolerated_low_confidence(0.52) benign(0) 1/1 mobidb-lite MODERATE SNV PASS ATT . . 215126 CA9 . GRCh38 chr9 35675920 35675920 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.593A>C p.Asn198Thr p.N198T ENST00000378357 3/11 107 88 11 31 31 0 CA9,missense_variant,p.Asn198Thr,ENST00000378357,NM_001216.2;CA9,missense_variant,p.Asn198Thr,ENST00000617161,;RN7SL22P,downstream_gene_variant,,ENST00000471800,;CA9,upstream_gene_variant,,ENST00000485665,;CA9,upstream_gene_variant,,ENST00000493245,;ARHGEF39,upstream_gene_variant,,ENST00000490638,;,regulatory_region_variant,,ENSR00000234668,; C ENSG00000107159 ENST00000378357 Transcript missense_variant 697/1618 593/1380 198/459 N/T aAt/aCt 1 1 CA9 HGNC HGNC:1383 protein_coding YES CCDS6585.1 ENSP00000367608 Q16790 A0A0S2Z3D0 UPI000013E02C NM_001216.2 deleterious(0) possibly_damaging(0.757) 3/11 Gene3D:3.10.200.10,PDB-ENSP_mappings:3iai.A,PDB-ENSP_mappings:3iai.B,PDB-ENSP_mappings:3iai.C,PDB-ENSP_mappings:3iai.D,PDB-ENSP_mappings:5dvx.A,PDB-ENSP_mappings:5dvx.B,PDB-ENSP_mappings:5fl4.A,PDB-ENSP_mappings:5fl4.B,PDB-ENSP_mappings:5fl4.C,PDB-ENSP_mappings:5fl4.D,PDB-ENSP_mappings:5fl5.A,PDB-ENSP_mappings:5fl5.B,PDB-ENSP_mappings:5fl5.C,PDB-ENSP_mappings:5fl5.D,PDB-ENSP_mappings:5fl6.A,PDB-ENSP_mappings:5fl6.B,PDB-ENSP_mappings:5fl6.C,PDB-ENSP_mappings:5fl6.D,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18,SMART_domains:SM01057,Superfamily_domains:SSF51069,cd03150 MODERATE 1 SNV 1 PASS AAT . . 35675920 CNTNAP3 . GRCh38 chr9 39078765 39078765 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.3598A>C p.Met1200Leu p.M1200L ENST00000297668 22/24 112 89 14 42 42 0 CNTNAP3,missense_variant,p.Met1200Leu,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Met1119Leu,ENST00000377656,;CNTNAP3,intron_variant,,ENST00000493965,;CNTNAP3,downstream_gene_variant,,ENST00000477002,;,regulatory_region_variant,,ENSR00000235026,; G ENSG00000106714 ENST00000297668 Transcript missense_variant 3672/5064 3598/3867 1200/1288 M/L Atg/Ctg 1 -1 CNTNAP3 HGNC HGNC:13834 protein_coding YES CCDS6616.1 ENSP00000297668 Q9BZ76 UPI000013E43B NM_033655.3 tolerated(1) benign(0) 22/24 PROSITE_profiles:PS50025,hmmpanther:PTHR43925,hmmpanther:PTHR43925:SF6 MODERATE 1 SNV 1 PASS ATA . . 39078765 GPSM1 . GRCh38 chr9 136327765 136327765 + Splice_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.68+2T>G p.X23_splice ENST00000440944 82 66 11 33 33 0 GPSM1,splice_donor_variant,,ENST00000440944,NM_001145638.2;GPSM1,splice_donor_variant,,ENST00000616132,NM_015597.5;GPSM1,upstream_gene_variant,,ENST00000354753,;AC174065.1,upstream_gene_variant,,ENST00000573103,;AC174065.1,upstream_gene_variant,,ENST00000601276,;,regulatory_region_variant,,ENSR00000243001,; G ENSG00000160360 ENST00000440944 Transcript splice_donor_variant 1 1 GPSM1 HGNC HGNC:17858 protein_coding YES CCDS48055.1 ENSP00000392828 A0A0A0MSK4 UPI00035A8582 NM_001145638.2 1/13 HIGH 1 SNV 5 PASS GTA . . 136327765 NET1 . GRCh38 chr10 5412786 5412786 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.94T>G p.Ser32Ala p.S32A ENST00000355029 1/12 84 66 7 21 21 0 NET1,missense_variant,p.Ser32Ala,ENST00000355029,NM_001047160.2;,regulatory_region_variant,,ENSR00000023827,; G ENSG00000173848 ENST00000355029 Transcript missense_variant 236/3402 94/1791 32/596 S/A Tcg/Gcg 1 1 NET1 HGNC HGNC:14592 protein_coding YES CCDS41483.1 ENSP00000347134 Q7Z628 Q5SQI5 UPI00001A9465 NM_001047160.2 tolerated_low_confidence(0.86) benign(0) 1/12 mobidb-lite,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF134 MODERATE 1 SNV 1 PASS TTC . . 5412786 OTUD1 . GRCh38 chr10 23439852 23439852 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.395T>G p.Val132Gly p.V132G ENST00000376495 1/1 81 64 14 45 44 1 OTUD1,missense_variant,p.Val132Gly,ENST00000376495,NM_001145373.2;,regulatory_region_variant,,ENSR00000025586,; G ENSG00000165312 ENST00000376495 Transcript missense_variant 395/2933 395/1446 132/481 V/G gTt/gGt 1 1 OTUD1 HGNC HGNC:27346 protein_coding YES CCDS44366.1 ENSP00000365678 Q5VV17 UPI0000458A32 NM_001145373.2 tolerated(0.22) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF15 MODERATE 1 SNV PASS GTT . . 23439852 SCT . GRCh38 chr11 627143 627143 + Translation_Start_Site SNP T T G 7316-370 BS_HS2BZ6T2 T T c.1A>C p.Met1? p.M1? ENST00000176195 1/4 96 79 10 35 34 1 SCT,start_lost,p.Met1?,ENST00000176195,NM_021920.3;CDHR5,upstream_gene_variant,,ENST00000349570,NM_031264.3;CDHR5,upstream_gene_variant,,ENST00000358353,;CDHR5,upstream_gene_variant,,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,upstream_gene_variant,,ENST00000526077,;CDHR5,upstream_gene_variant,,ENST00000531088,;CDHR5,upstream_gene_variant,,ENST00000534311,;CDHR5,upstream_gene_variant,,ENST00000529337,;CDHR5,upstream_gene_variant,,ENST00000531177,;CDHR5,upstream_gene_variant,,ENST00000531899,; G ENSG00000070031 ENST00000176195 Transcript start_lost 1/366 1/366 1/121 M/L Atg/Ctg COSM6213971 1 -1 SCT HGNC HGNC:10607 protein_coding YES CCDS7709.1 ENSP00000176195 P09683 UPI00001357C7 NM_021920.3 deleterious_low_confidence(0) benign(0.035) 1/4 Cleavage_site_(Signalp):SignalP-noTM 1 HIGH 1 SNV 1 1 PASS ATG . . 627143 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 86 65 13 28 28 0 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 MUC5AC . GRCh38 chr11 1191424 1191424 + Missense_Mutation SNP C C A novel 7316-370 BS_HS2BZ6T2 C C c.13279C>A p.Pro4427Thr p.P4427T ENST00000621226 31/49 55 40 5 23 22 0 MUC5AC,missense_variant,p.Pro4427Thr,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; A ENSG00000215182 ENST00000621226 Transcript missense_variant 13326/17448 13279/16965 4427/5654 P/T Cct/Act 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.27) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CCC . . 1191424 CD81 . GRCh38 chr11 2377551 2377551 + Translation_Start_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.2T>G p.Met1? p.M1? ENST00000263645 1/8 35 24 7 23 23 0 CD81,start_lost,p.Met1?,ENST00000263645,NM_004356.3;CD81,intron_variant,,ENST00000475945,;CD81,intron_variant,,ENST00000530648,;CD81,upstream_gene_variant,,ENST00000492627,;CD81,upstream_gene_variant,,ENST00000533417,;CD81-AS1,intron_variant,,ENST00000413483,;CD81-AS1,intron_variant,,ENST00000427151,;RF00019,downstream_gene_variant,,ENST00000362680,;,regulatory_region_variant,,ENSR00000035933,; G ENSG00000110651 ENST00000263645 Transcript start_lost 258/1520 2/711 1/236 M/R aTg/aGg 1 1 CD81 HGNC HGNC:1701 protein_coding YES CCDS7734.1 ENSP00000263645 P60033 A0A024RCB7 UPI0000047033 NM_004356.3 deleterious(0) possibly_damaging(0.897) 1/8 PIRSF_domain:PIRSF002419 HIGH 1 SNV 1 1 PASS ATG . . 2377551 C11orf96 . GRCh38 chr11 43943236 43943236 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.332A>C p.Asn111Thr p.N111T ENST00000617612 1/1 85 69 10 29 29 0 C11orf96,missense_variant,p.Glu227Asp,ENST00000528572,;C11orf96,missense_variant,p.Asn111Thr,ENST00000617612,NM_001145033.1;AC087521.1,downstream_gene_variant,,ENST00000501541,;AC087521.3,non_coding_transcript_exon_variant,,ENST00000339446,;AC087521.3,intron_variant,,ENST00000526408,;,regulatory_region_variant,,ENSR00000039220,; C ENSG00000187479 ENST00000617612 Transcript missense_variant 647/1294 332/369 111/122 N/T aAc/aCc 1 1 C11orf96 HGNC HGNC:38675 protein_coding YES CCDS73275.1 ENSP00000479976 A0A087WW59 UPI00001FA033 NM_001145033.1 tolerated_low_confidence(0.08) benign(0.281) 1/1 Pfam_domain:PF15766,hmmpanther:PTHR40250 MODERATE SNV PASS AAC . . 43943236 LARGE2 . GRCh38 chr11 45922911 45922911 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.29T>G p.Leu10Arg p.L10R ENST00000531526 2/14 80 61 15 28 28 0 LARGE2,missense_variant,p.Leu10Arg,ENST00000531526,NM_152312.4;LARGE2,missense_variant,p.Leu10Arg,ENST00000325468,;LARGE2,missense_variant,p.Leu10Arg,ENST00000401752,NM_001300721.1;LARGE2,missense_variant,p.Leu10Arg,ENST00000529052,NM_001300722.1;PEX16,upstream_gene_variant,,ENST00000378750,NM_004813.2;PEX16,upstream_gene_variant,,ENST00000525192,;PEX16,upstream_gene_variant,,ENST00000532681,;LARGE2,upstream_gene_variant,,ENST00000534410,;LARGE2,upstream_gene_variant,,ENST00000414027,;LARGE2,upstream_gene_variant,,ENST00000525609,;LARGE2,upstream_gene_variant,,ENST00000528236,;PEX16,upstream_gene_variant,,ENST00000528674,;PEX16,upstream_gene_variant,,ENST00000529030,;LARGE2,upstream_gene_variant,,ENST00000530437,;,regulatory_region_variant,,ENSR00000039462,; G ENSG00000165905 ENST00000531526 Transcript missense_variant 140/2528 29/2166 10/721 L/R cTg/cGg 1 1 LARGE2 HGNC HGNC:16522 protein_coding YES CCDS31473.1 ENSP00000432869 Q8N3Y3 UPI000004B639 NM_152312.4 deleterious_low_confidence(0) benign(0.145) 2/14 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12270:SF23,hmmpanther:PTHR12270 MODERATE 1 SNV 2 PASS CTG . . 45922911 SYT7 . GRCh38 chr11 61546229 61546229 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.242T>G p.Val81Gly p.V81G ENST00000540677 4/10 80 63 10 21 21 0 SYT7,missense_variant,p.Val125Gly,ENST00000539008,;SYT7,missense_variant,p.Val81Gly,ENST00000540677,NM_001252065.1;SYT7,missense_variant,p.Val125Gly,ENST00000535826,;SYT7,intron_variant,,ENST00000263846,NM_004200.3;SYT7,intron_variant,,ENST00000542670,;SYT7,intron_variant,,ENST00000542836,NM_001300773.1;SYT7,intron_variant,,ENST00000545053,;AP003559.1,upstream_gene_variant,,ENST00000540906,;SYT7,3_prime_UTR_variant,,ENST00000539468,;SYT7,intron_variant,,ENST00000539246,; C ENSG00000011347 ENST00000540677 Transcript missense_variant 248/2013 242/1437 81/478 V/G gTg/gGg 1 -1 SYT7 HGNC HGNC:11514 protein_coding YES CCDS58139.1 ENSP00000444201 O43581 UPI0001639ECE NM_001252065.1 tolerated_low_confidence(0.33) benign(0.003) 4/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 61546229 SLC29A2 . GRCh38 chr11 66371591 66371591 + Translation_Start_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.1A>C p.Met1? p.M1? ENST00000357440 1/12 103 84 15 37 37 0 SLC29A2,start_lost,p.Met1?,ENST00000357440,NM_001532.2;SLC29A2,start_lost,p.Met1?,ENST00000546034,;SLC29A2,start_lost,p.Met1?,ENST00000544554,NM_001300868.1;SLC29A2,start_lost,p.Met1?,ENST00000619145,;SLC29A2,start_lost,p.Met1?,ENST00000311161,NM_001300869.1;RF00017,downstream_gene_variant,,ENST00000615369,;SLC29A2,start_lost,p.Met1?,ENST00000540386,;SLC29A2,start_lost,p.Met1?,ENST00000541567,;,regulatory_region_variant,,ENSR00000040963,; G ENSG00000174669 ENST00000357440 Transcript start_lost 230/2514 1/1371 1/456 M/L Atg/Ctg 1 -1 SLC29A2 HGNC HGNC:11004 protein_coding YES CCDS8137.1 ENSP00000350024 Q14542 UPI000013F0E7 NM_001532.2 deleterious(0) possibly_damaging(0.661) 1/12 hmmpanther:PTHR10332:SF8,hmmpanther:PTHR10332 HIGH 1 SNV 1 PASS ATG . . 66371591 FDX1 . GRCh38 chr11 110430239 110430239 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.119A>C p.Asn40Thr p.N40T ENST00000260270 1/4 98 84 12 35 34 1 FDX1,missense_variant,p.Asn40Thr,ENST00000260270,NM_004109.4;,regulatory_region_variant,,ENSR00000044710,; C ENSG00000137714 ENST00000260270 Transcript missense_variant 357/3206 119/555 40/184 N/T aAc/aCc 1 1 FDX1 HGNC HGNC:3638 protein_coding YES CCDS8344.1 ENSP00000260270 P10109 UPI0000125630 NM_004109.4 tolerated(0.65) benign(0) 1/4 hmmpanther:PTHR23426,hmmpanther:PTHR23426:SF26,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 110430239 C1QTNF5 . GRCh38 chr11 119340204 119340204 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.194A>C p.Lys65Thr p.K65T ENST00000528368 2/3 111 93 16 36 36 0 C1QTNF5,missense_variant,p.Lys65Thr,ENST00000528368,NM_001278431.1,NM_015645.4;C1QTNF5,missense_variant,p.Lys65Thr,ENST00000530681,;MFRP,3_prime_UTR_variant,,ENST00000619721,NM_031433.3;C1QTNF5,intron_variant,,ENST00000634633,;RNF26,downstream_gene_variant,,ENST00000311413,NM_032015.4;MFRP,downstream_gene_variant,,ENST00000360167,;MFRP,downstream_gene_variant,,ENST00000449574,;AP003396.1,upstream_gene_variant,,ENST00000501918,;C1QTNF5,intron_variant,,ENST00000525657,;MFRP,downstream_gene_variant,,ENST00000529147,;MFRP,downstream_gene_variant,,ENST00000634542,;,regulatory_region_variant,,ENSR00000045756,; G ENSG00000223953 ENST00000528368 Transcript missense_variant 426/1356 194/732 65/243 K/T aAa/aCa 1 -1 C1QTNF5 HGNC HGNC:14344 protein_coding YES CCDS8420.1 ENSP00000431140 Q9BXJ0 A0A024R3F8 UPI000003553A NM_001278431.1,NM_015645.4 deleterious(0.02) possibly_damaging(0.736) 2/3 Pfam_domain:PF01391,hmmpanther:PTHR44954,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS TTT . . 119340204 PTMS . GRCh38 chr12 6766707 6766707 + Translation_Start_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.2T>G p.Met1? p.M1? ENST00000389462 1/5 91 65 10 37 36 0 PTMS,start_lost,p.Met1?,ENST00000619580,NM_002824.4;PTMS,start_lost,p.Met1?,ENST00000309083,;PTMS,start_lost,p.Met1?,ENST00000389462,;PTMS,start_lost,p.Met1?,ENST00000540874,;MLF2,intron_variant,,ENST00000539187,;PTMS,intron_variant,,ENST00000540667,;PTMS,upstream_gene_variant,,ENST00000538057,;PTMS,upstream_gene_variant,,ENST00000540828,;,regulatory_region_variant,,ENSR00000266977,; G ENSG00000159335 ENST00000389462 Transcript start_lost 333/773 2/315 1/104 M/R aTg/aGg 1 1 PTMS HGNC HGNC:9629 protein_coding YES CCDS81656.1 ENSP00000374113 F5GXR3 UPI000204A9F7 deleterious_low_confidence(0) benign(0.402) 1/5 mobidb-lite HIGH 1 SNV 2 PASS ATG . . 6766707 LAG3 . GRCh38 chr12 6773788 6773788 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.298A>C p.Thr100Pro p.T100P ENST00000203629 3/8 111 92 13 37 37 0 LAG3,missense_variant,p.Thr100Pro,ENST00000203629,NM_002286.5;LAG3,missense_variant,p.Thr100Pro,ENST00000441671,;PTMS,downstream_gene_variant,,ENST00000309083,;PTMS,downstream_gene_variant,,ENST00000389462,;PTMS,downstream_gene_variant,,ENST00000540874,;PTMS,downstream_gene_variant,,ENST00000619580,NM_002824.4;PTMS,downstream_gene_variant,,ENST00000538057,;PTMS,downstream_gene_variant,,ENST00000540667,;PTMS,downstream_gene_variant,,ENST00000540828,;LAG3,non_coding_transcript_exon_variant,,ENST00000538079,;LAG3,upstream_gene_variant,,ENST00000541049,;,regulatory_region_variant,,ENSR00000048346,; C ENSG00000089692 ENST00000203629 Transcript missense_variant 631/1974 298/1578 100/525 T/P Acg/Ccg 1 1 LAG3 HGNC HGNC:6476 protein_coding YES CCDS8561.1 ENSP00000203629 P18627 UPI000013C645 NM_002286.5 deleterious(0.05) probably_damaging(0.916) 3/8 hmmpanther:PTHR11890:SF18,hmmpanther:PTHR11890,Gene3D:2.60.40.10,SMART_domains:SM00409 MODERATE 1 SNV 1 PASS CAC . . 6773788 APOLD1 . GRCh38 chr12 12786912 12786912 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.100A>C p.Met34Leu p.M34L ENST00000326765 2/2 89 74 14 48 48 0 APOLD1,missense_variant,p.Met34Leu,ENST00000326765,NM_001130415.1;APOLD1,missense_variant,p.Met3Leu,ENST00000356591,NM_030817.2;APOLD1,intron_variant,,ENST00000534843,;APOLD1,intron_variant,,ENST00000540583,;APOLD1,intron_variant,,ENST00000588943,;,regulatory_region_variant,,ENSR00000048986,; C ENSG00000178878 ENST00000326765 Transcript missense_variant 170/4724 100/840 34/279 M/L Atg/Ctg 1 1 APOLD1 HGNC HGNC:25268 protein_coding YES CCDS44833.1 ENSP00000324277 Q96LR9 UPI0000D4A841 NM_001130415.1 deleterious(0.03) benign(0.011) 2/2 hmmpanther:PTHR14096:SF1,hmmpanther:PTHR14096 MODERATE 1 SNV 1 PASS AAT . . 12786912 BHLHE41 . GRCh38 chr12 26122281 26122281 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.1234T>G p.Phe412Val p.F412V ENST00000242728 5/5 62 48 11 35 35 0 BHLHE41,missense_variant,p.Phe412Val,ENST00000242728,NM_030762.2;SSPN,intron_variant,,ENST00000538142,;AC022509.3,downstream_gene_variant,,ENST00000535914,;AC022509.3,downstream_gene_variant,,ENST00000545819,;SSPN,intron_variant,,ENST00000534829,;BHLHE41,downstream_gene_variant,,ENST00000394326,;BHLHE41,downstream_gene_variant,,ENST00000541271,;,regulatory_region_variant,,ENSR00000049963,; C ENSG00000123095 ENST00000242728 Transcript missense_variant 1582/3837 1234/1449 412/482 F/V Ttc/Gtc 1 -1 BHLHE41 HGNC HGNC:16617 protein_coding YES CCDS8706.1 ENSP00000242728 Q9C0J9 A0A024RAV8 UPI0000052B52 NM_030762.2 tolerated(0.11) probably_damaging(0.981) 5/5 hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF76 MODERATE 1 SNV 1 1 PASS AAC . . 26122281 WNT1 . GRCh38 chr12 48980673 48980673 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.608A>C p.Asn203Thr p.N203T ENST00000293549 3/4 89 73 10 37 36 1 WNT1,missense_variant,p.Asn203Thr,ENST00000613114,;WNT1,missense_variant,p.Asn203Thr,ENST00000293549,NM_005430.3;,regulatory_region_variant,,ENSR00000051557,; C ENSG00000125084 ENST00000293549 Transcript missense_variant 644/1185 608/1113 203/370 N/T aAc/aCc 1 1 WNT1 HGNC HGNC:12774 protein_coding YES CCDS8776.1 ENSP00000293549 P04628 UPI0000051043 NM_005430.3 deleterious(0) probably_damaging(0.937) 3/4 Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF91,SMART_domains:SM00097 MODERATE 1 SNV 1 1 PASS AAC . . 48980673 MFSD5 . GRCh38 chr12 53252037 53252037 + Splice_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.303+2T>G p.X101_splice ENST00000534842 68 55 9 22 22 0 MFSD5,splice_donor_variant,,ENST00000534842,NM_001170790.1;MFSD5,splice_donor_variant,,ENST00000551660,;MFSD5,upstream_gene_variant,,ENST00000329548,NM_032889.4;MFSD5,downstream_gene_variant,,ENST00000546655,;MFSD5,upstream_gene_variant,,ENST00000552097,;,regulatory_region_variant,,ENSR00000052167,; G ENSG00000182544 ENST00000534842 Transcript splice_donor_variant 1 1 MFSD5 HGNC HGNC:28156 protein_coding YES CCDS53796.1 ENSP00000442688 Q6N075 UPI0000EE2648 NM_001170790.1 1/1 HIGH 1 SNV 2 PASS GTA . . 53252037 CIT . GRCh38 chr12 119752255 119752256 + Splice_Region DEL AG AG - rs147146275 7316-370 BS_HS2BZ6T2 AG AG c.2707-9_2707-8del ENST00000392521 81 68 5 30 28 0 CIT,splice_region_variant,,ENST00000261833,NM_007174.2;CIT,splice_region_variant,,ENST00000392520,;CIT,splice_region_variant,,ENST00000392521,NM_001206999.1;CIT,intron_variant,,ENST00000536325,;CIT,intron_variant,,ENST00000612548,;CIT,upstream_gene_variant,,ENST00000546026,;CIT,splice_region_variant,,ENST00000537607,;CIT,splice_region_variant,,ENST00000545913,; - ENSG00000122966 ENST00000392521 Transcript splice_region_variant,intron_variant rs147146275,TMP_ESP_12_120190060_120190061,COSM4774174,COSM4774173 1 -1 CIT HGNC HGNC:1985 protein_coding YES CCDS55891.1 ENSP00000376306 O14578 UPI0000683C41 NM_001206999.1 22/47 0.06867 0.1061 0,0,1,1 LOW 1 deletion 1 0,0,1,1 1 PASS ACAGA . . 0.1196 0.05224 0.1485 0.1485 0.1422 0.0757 0.1077 0.1391 0.188 119752254 DDX51 . GRCh38 chr12 132144067 132144067 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.230A>C p.Asn77Thr p.N77T ENST00000397333 1/15 87 74 11 30 30 0 DDX51,missense_variant,p.Asn77Thr,ENST00000397333,NM_175066.3;NOC4L,upstream_gene_variant,,ENST00000330579,NM_024078.2;NOC4L,upstream_gene_variant,,ENST00000541954,;NOC4L,upstream_gene_variant,,ENST00000535343,;DDX51,upstream_gene_variant,,ENST00000329073,;DDX51,upstream_gene_variant,,ENST00000462829,;DDX51,upstream_gene_variant,,ENST00000541489,;DDX51,upstream_gene_variant,,ENST00000545991,;DDX51,upstream_gene_variant,,ENST00000546058,;,regulatory_region_variant,,ENSR00000059463,; G ENSG00000185163 ENST00000397333 Transcript missense_variant 269/4718 230/2001 77/666 N/T aAc/aCc 1 -1 DDX51 HGNC HGNC:20082 protein_coding YES CCDS41865.1 ENSP00000380495 Q8N8A6 UPI000049DD95 NM_175066.3 tolerated(0.61) benign(0.017) 1/15 Gene3D:3.40.50.300,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF68,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 132144067 CRYL1 . GRCh38 chr13 20525794 20525794 + Translation_Start_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.1A>C p.Met1? p.M1? ENST00000298248 1/8 99 88 8 17 17 0 CRYL1,start_lost,p.Met1?,ENST00000298248,NM_015974.2;CRYL1,start_lost,p.Met1?,ENST00000644593,;CRYL1,5_prime_UTR_variant,,ENST00000643750,;CRYL1,5_prime_UTR_variant,,ENST00000382812,;CRYL1,start_lost,p.Met1?,ENST00000644153,;CRYL1,start_lost,p.Met1?,ENST00000643887,;CRYL1,start_lost,p.Met1?,ENST00000643035,;CRYL1,start_lost,p.Met1?,ENST00000644167,;CRYL1,start_lost,p.Met1?,ENST00000646414,;,regulatory_region_variant,,ENSR00000059678,; G ENSG00000165475 ENST00000298248 Transcript start_lost 64/1485 1/960 1/319 M/L Atg/Ctg 1 -1 CRYL1 HGNC HGNC:18246 protein_coding YES CCDS41871.1 ENSP00000298248 Q9Y2S2 V9HWG2 UPI000013E4B3 NM_015974.2 deleterious_low_confidence(0) possibly_damaging(0.456) 1/8 PIRSF_domain:PIRSF000105,hmmpanther:PTHR43492,hmmpanther:PTHR43492:SF2 HIGH 1 SNV 1 PASS ATG . . 20525794 ZAR1L . GRCh38 chr13 32311661 32311661 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.265A>C p.Lys89Gln p.K89Q ENST00000533490 3/6 88 73 9 37 37 0 ZAR1L,missense_variant,p.Lys89Gln,ENST00000533490,;ZAR1L,missense_variant,p.Lys89Gln,ENST00000345108,NM_001136571.1;BRCA2,upstream_gene_variant,,ENST00000380152,;BRCA2,upstream_gene_variant,,ENST00000544455,NM_000059.3;BRCA2,upstream_gene_variant,,ENST00000530893,;BRCA2,upstream_gene_variant,,ENST00000614259,; G ENSG00000189167 ENST00000533490 Transcript missense_variant 684/1564 265/966 89/321 K/Q Aag/Cag 1 -1 ZAR1L HGNC HGNC:37116 protein_coding YES CCDS45023.1 ENSP00000437289 A6NP61 UPI00006C1387 deleterious(0.01) possibly_damaging(0.64) 3/6 hmmpanther:PTHR31054,hmmpanther:PTHR31054:SF5 MODERATE 1 SNV 5 PASS TTG . . 32311661 LRCH1 . GRCh38 chr13 46553511 46553511 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.115A>C p.Thr39Pro p.T39P ENST00000389797 1/20 73 60 9 39 38 0 LRCH1,missense_variant,p.Thr39Pro,ENST00000311191,NM_001164213.1;LRCH1,missense_variant,p.Thr39Pro,ENST00000389798,NM_015116.2;LRCH1,missense_variant,p.Thr39Pro,ENST00000389797,NM_001164211.1;LRCH1,non_coding_transcript_exon_variant,,ENST00000443945,;,regulatory_region_variant,,ENSR00000062417,; C ENSG00000136141 ENST00000389797 Transcript missense_variant 252/3314 115/2292 39/763 T/P Acc/Ccc 1 1 LRCH1 HGNC HGNC:20309 protein_coding YES CCDS53865.1 ENSP00000374447 Q9Y2L9 UPI00015DFE06 NM_001164211.1 tolerated_low_confidence(0.33) benign(0.095) 1/20 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR44283,hmmpanther:PTHR44283:SF2 MODERATE 1 SNV 1 PASS AAC . . 46553511 DACH1 . GRCh38 chr13 71866553 71866553 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.217A>C p.Thr73Pro p.T73P ENST00000613252 1/11 86 67 15 34 32 1 DACH1,missense_variant,p.Thr73Pro,ENST00000613252,NM_080759.5;DACH1,missense_variant,p.Thr73Pro,ENST00000611519,NM_080760.5;DACH1,missense_variant,p.Thr73Pro,ENST00000620444,NM_004392.6;DACH1,missense_variant,p.Thr73Pro,ENST00000619232,;,regulatory_region_variant,,ENSR00000063548,; G ENSG00000276644 ENST00000613252 Transcript missense_variant 640/5233 217/2121 73/706 T/P Acc/Ccc 1 -1 DACH1 HGNC HGNC:2663 protein_coding YES CCDS41899.1 ENSP00000482245 Q9UI36 UPI000007308B NM_080759.5 deleterious_low_confidence(0.02) benign(0) 1/11 mobidb-lite MODERATE 1 SNV 1 PASS GTA . . 71866553 NDFIP2 . GRCh38 chr13 79481376 79481376 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.173A>C p.Asn58Thr p.N58T ENST00000612570 1/8 112 93 14 39 38 1 NDFIP2,missense_variant,p.Asn58Thr,ENST00000612570,NM_001161407.1,NM_019080.2;NDFIP2,missense_variant,p.Asn58Thr,ENST00000218652,;NDFIP2,upstream_gene_variant,,ENST00000487865,;NDFIP2,upstream_gene_variant,,ENST00000620924,;NDFIP2-AS1,upstream_gene_variant,,ENST00000457171,;NDFIP2,upstream_gene_variant,,ENST00000465762,;,regulatory_region_variant,,ENSR00000064127,; C ENSG00000102471 ENST00000612570 Transcript missense_variant 253/4648 173/1011 58/336 N/T aAc/aCc 1 1 NDFIP2 HGNC HGNC:18537 protein_coding YES CCDS31998.1 ENSP00000480798 Q9NV92 UPI000015F962 NM_001161407.1,NM_019080.2 tolerated_low_confidence(0.08) benign(0) 1/8 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 79481376 SOX1 . GRCh38 chr13 112067716 112067716 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.58A>C p.Thr20Pro p.T20P ENST00000330949 1/1 83 74 6 20 20 0 SOX1,missense_variant,p.Thr20Pro,ENST00000330949,NM_005986.2; C ENSG00000182968 ENST00000330949 Transcript missense_variant 70/2842 58/1176 20/391 T/P Acg/Ccg 1 1 SOX1 HGNC HGNC:11189 protein_coding YES CCDS9523.1 ENSP00000330218 O00570 UPI0000190FB0 NM_005986.2 tolerated(0.12) benign(0.005) 1/1 mobidb-lite,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF40 MODERATE 1 SNV PASS CAC . . 112067716 ACTN1 . GRCh38 chr14 68880815 68880815 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.2128A>C p.Met710Leu p.M710L ENST00000394419 17/22 90 79 10 20 20 0 ACTN1,missense_variant,p.Met710Leu,ENST00000193403,NM_001102.3;ACTN1,missense_variant,p.Met710Leu,ENST00000394419,NM_001130004.1;ACTN1,missense_variant,p.Met710Leu,ENST00000438964,NM_001130005.1;ACTN1,missense_variant,p.Met645Leu,ENST00000376839,;ACTN1,missense_variant,p.Met710Leu,ENST00000538545,;ACTN1,missense_variant,p.Met239Leu,ENST00000544964,;ACTN1,missense_variant,p.Met96Leu,ENST00000555075,;ACTN1,missense_variant,p.Met150Leu,ENST00000553290,;ACTN1,downstream_gene_variant,,ENST00000556343,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556083,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556432,;ACTN1,upstream_gene_variant,,ENST00000553882,; G ENSG00000072110 ENST00000394419 Transcript missense_variant 2311/3464 2128/2745 710/914 M/L Atg/Ctg 1 -1 ACTN1 HGNC HGNC:163 protein_coding YES CCDS45130.1 ENSP00000377941 P12814 UPI0000D79B2C NM_001130004.1 tolerated(0.07) possibly_damaging(0.848) 17/22 Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR43947,hmmpanther:PTHR43947:SF3,SMART_domains:SM00150,Superfamily_domains:SSF46966 MODERATE 1 SNV 1 1 PASS ATG . . 68880815 KIF26A . GRCh38 chr14 104176884 104176884 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.4096A>C p.Thr1366Pro p.T1366P ENST00000423312 12/15 107 83 12 41 41 0 KIF26A,missense_variant,p.Thr1227Pro,ENST00000315264,;KIF26A,missense_variant,p.Thr1366Pro,ENST00000423312,NM_015656.1; C ENSG00000066735 ENST00000423312 Transcript missense_variant 4096/5649 4096/5649 1366/1882 T/P Acg/Ccg 1 1 KIF26A HGNC HGNC:20226 protein_coding YES CCDS45171.1 ENSP00000388241 Q9ULI4 UPI00006C145D NM_015656.1 deleterious(0) benign(0.035) 12/15 mobidb-lite,hmmpanther:PTHR24115:SF407,hmmpanther:PTHR24115 MODERATE 1 SNV 5 PASS CAC . . 104176884 ZBTB42 . GRCh38 chr14 104801682 104801682 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.485T>G p.Phe162Cys p.F162C ENST00000342537 1/1 115 97 16 31 30 0 ZBTB42,missense_variant,p.Phe162Cys,ENST00000342537,NM_001137601.2;ZBTB42,missense_variant,p.Phe162Cys,ENST00000555360,; G ENSG00000179627 ENST00000342537 Transcript missense_variant 770/3800 485/1269 162/422 F/C tTt/tGt 1 1 ZBTB42 HGNC HGNC:32550 protein_coding YES CCDS45174.1 ENSP00000409107 B2RXF5 UPI0001849D48 NM_001137601.2 tolerated(0.19) benign(0) 1/1 hmmpanther:PTHR44315:SF1,hmmpanther:PTHR44315 MODERATE 1 SNV 1 PASS TTT . . 104801682 AHNAK2 . GRCh38 chr14 104947695 104947695 + Missense_Mutation SNP G G T rs199905726 7316-370 BS_HS2BZ6T2 G G c.7756C>A p.Leu2586Ile p.L2586I ENST00000333244 7/7 95 88 6 30 29 0 AHNAK2,missense_variant,p.Leu2586Ile,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; T ENSG00000185567 ENST00000333244 Transcript missense_variant 7876/18254 7756/17388 2586/5795 L/I Cta/Ata rs199905726,COSM4987569 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.09) benign(0.001) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.001628 0.001347 0,1 MODERATE 1 SNV 5 0,1 PASS AGC . . 0.001756 0.002954 0.000732 0.02904 0.000184 9.001e-05 0.0004402 0.002128 0.0001719 104947695 AHNAK2 . GRCh38 chr14 104948114 104948114 + Missense_Mutation SNP T T A rs780007283 7316-370 BS_HS2BZ6T2 T T c.7337A>T p.Gln2446Leu p.Q2446L ENST00000333244 7/7 79 69 8 33 31 0 AHNAK2,missense_variant,p.Gln2446Leu,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; A ENSG00000185567 ENST00000333244 Transcript missense_variant 7457/18254 7337/17388 2446/5795 Q/L cAg/cTg rs780007283 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS CTG . . 1.224e-05 0.0001328 3.262e-05 104948114 AC135068.1 . GRCh38 chr15 21638286 21638286 + Missense_Mutation SNP T T C rs1419469507 7316-370 BS_HS2BZ6T2 T T c.280T>C p.Phe94Leu p.F94L ENST00000332663 1/1 73 60 13 30 30 0 AC135068.1,missense_variant,p.Phe94Leu,ENST00000332663,;LINC02203,intron_variant,,ENST00000628444,;LINC02203,non_coding_transcript_exon_variant,,ENST00000625989,; C ENSG00000182974 ENST00000332663 Transcript missense_variant 378/1084 280/942 94/313 F/L Ttt/Ctt rs1419469507 1 1 AC135068.1 Clone_based_ensembl_gene protein_coding YES ENSP00000329467 A0A0X1KG70 UPI0004E4CC2D tolerated(0.09) probably_damaging(0.995) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Superfamily_domains:SSF81321 MODERATE SNV PASS TTT . . 21638286 GOLGA6L2 . GRCh38 chr15 23440966 23440966 + Missense_Mutation SNP C C G rs68177477 7316-370 BS_HS2BZ6T2 C C c.1509G>C p.Gln503His p.Q503H ENST00000567107 8/8 88 59 14 32 26 0 GOLGA6L2,missense_variant,p.Gln503His,ENST00000567107,NM_001304388.1;GOLGA6L2,missense_variant,p.Gln230His,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; G ENSG00000174450 ENST00000567107 Transcript missense_variant 1562/3030 1509/2730 503/909 Q/H caG/caC rs68177477,COSM4591146,COSM4591145,COSM4591144 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 tolerated_low_confidence(0.39) benign(0) 8/8 Low_complexity_(Seg):seg,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21 0.0006 0.0014 0.002 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS CCT . . 0.0001954 0.0002704 0.001154 23440966 GABRB3 . GRCh38 chr15 26772961 26772961 + Translation_Start_Site SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.2T>G p.Met1? p.M1? ENST00000311550 1/9 84 66 11 34 34 0 GABRB3,start_lost,p.Met1?,ENST00000311550,NM_000814.5;GABRB3,5_prime_UTR_variant,,ENST00000622697,NM_001278631.1;GABRB3,intron_variant,,ENST00000299267,NM_021912.4;GABRB3,intron_variant,,ENST00000541819,;GABRB3,intron_variant,,ENST00000638099,;GABRB3,upstream_gene_variant,,ENST00000636466,;GABRB3,intron_variant,,ENST00000554722,;GABRB3,intron_variant,,ENST00000557641,;GABRB3,start_lost,p.Met1?,ENST00000555632,;GABRB3,start_lost,p.Met1?,ENST00000554556,; C ENSG00000166206 ENST00000311550 Transcript start_lost 114/5781 2/1422 1/473 M/R aTg/aGg 1 -1 GABRB3 HGNC HGNC:4083 protein_coding YES CCDS10019.1 ENSP00000308725 P28472 UPI000012AFB0 NM_000814.5 deleterious_low_confidence(0) benign(0.031) 1/9 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 1 PASS CAT . . 26772961 OTUD7A . GRCh38 chr15 31483712 31483712 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.2363T>G p.Val788Gly p.V788G ENST00000307050 11/11 62 52 10 19 19 0 OTUD7A,missense_variant,p.Val788Gly,ENST00000307050,NM_130901.1;,regulatory_region_variant,,ENSR00000074522,; C ENSG00000169918 ENST00000307050 Transcript missense_variant 2456/10770 2363/2781 788/926 V/G gTg/gGg 1 -1 OTUD7A HGNC HGNC:20718 protein_coding YES CCDS10026.1 ENSP00000305926 Q8TE49 UPI0000073AA5 NM_130901.1 tolerated_low_confidence(0.4) benign(0.348) 11/11 hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367 MODERATE 1 SNV 1 PASS CAC . . 31483712 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 91 58 12 33 33 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 C2CD4B . GRCh38 chr15 62164368 62164368 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.617A>C p.Asn206Thr p.N206T ENST00000380392 2/2 90 67 14 23 22 0 C2CD4B,missense_variant,p.Asn206Thr,ENST00000380392,NM_001007595.2;,regulatory_region_variant,,ENSR00000077574,; G ENSG00000205502 ENST00000380392 Transcript missense_variant 746/1579 617/1095 206/364 N/T aAc/aCc 1 -1 C2CD4B HGNC HGNC:33628 protein_coding YES CCDS32259.1 ENSP00000369755 A6NLJ0 UPI0000161A38 NM_001007595.2 tolerated(0.16) benign(0.047) 2/2 hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF343,mobidb-lite MODERATE 1 SNV 2 PASS GTT . . 62164368 ISLR2 . GRCh38 chr15 74134346 74134346 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.1592A>C p.Tyr531Ser p.Y531S ENST00000361742 4/4 113 101 10 32 31 1 ISLR2,missense_variant,p.Tyr531Ser,ENST00000361742,NM_001130136.1;ISLR2,missense_variant,p.Tyr531Ser,ENST00000435464,NM_001130138.1;ISLR2,missense_variant,p.Tyr531Ser,ENST00000565159,NM_001130137.1;ISLR2,missense_variant,p.Tyr531Ser,ENST00000453268,NM_020851.2;ISLR2,missense_variant,p.Tyr531Ser,ENST00000565540,;ISLR2,intron_variant,,ENST00000419208,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000565332,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;,regulatory_region_variant,,ENSR00000079191,; C ENSG00000167178 ENST00000361742 Transcript missense_variant 2361/4817 1592/2238 531/745 Y/S tAt/tCt 1 1 ISLR2 HGNC HGNC:29286 protein_coding YES CCDS10259.1 ENSP00000355402 Q6UXK2 UPI000004C60F NM_001130136.1 deleterious(0) probably_damaging(0.997) 4/4 hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF15,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAT . . 74134346 CASKIN1 . GRCh38 chr16 2180100 2180100 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.3268T>G p.Phe1090Val p.F1090V ENST00000343516 18/20 99 78 12 21 21 0 CASKIN1,missense_variant,p.Phe1090Val,ENST00000343516,NM_020764.3;TRAF7,downstream_gene_variant,,ENST00000326181,NM_032271.2;CASKIN1,downstream_gene_variant,,ENST00000564289,;TRAF7,downstream_gene_variant,,ENST00000570169,; C ENSG00000167971 ENST00000343516 Transcript missense_variant 3361/5759 3268/4296 1090/1431 F/V Ttt/Gtt 1 -1 CASKIN1 HGNC HGNC:20879 protein_coding YES CCDS42103.1 ENSP00000345436 Q8WXD9 UPI0000073A3B NM_020764.3 deleterious(0.03) benign(0.003) 18/20 hmmpanther:PTHR24177,hmmpanther:PTHR24177:SF12,mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 2180100 MAZ . GRCh38 chr16 29807204 29807204 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.419T>G p.Val140Gly p.V140G ENST00000219782 2/6 76 49 15 37 35 0 MAZ,missense_variant,p.Val140Gly,ENST00000219782,NM_001042539.2;MAZ,missense_variant,p.Val140Gly,ENST00000322945,NM_002383.3;MAZ,missense_variant,p.Val117Gly,ENST00000545521,NM_001276275.1;MAZ,intron_variant,,ENST00000562337,NM_001276276.1;MAZ,intron_variant,,ENST00000563402,;MAZ,intron_variant,,ENST00000566906,;KIF22,downstream_gene_variant,,ENST00000160827,NM_007317.2;PRRT2,upstream_gene_variant,,ENST00000358758,NM_145239.2;KIF22,downstream_gene_variant,,ENST00000400751,;KIF22,downstream_gene_variant,,ENST00000561482,NM_001256270.1,NM_001256269.1;PRRT2,upstream_gene_variant,,ENST00000562148,;MAZ,upstream_gene_variant,,ENST00000562557,;MAZ,upstream_gene_variant,,ENST00000563012,;MAZ,upstream_gene_variant,,ENST00000567444,;PRRT2,upstream_gene_variant,,ENST00000567551,;PRRT2,upstream_gene_variant,,ENST00000567659,NM_001256442.1;MAZ,upstream_gene_variant,,ENST00000568282,;MAZ,upstream_gene_variant,,ENST00000568411,;MAZ,upstream_gene_variant,,ENST00000568544,;KIF22,downstream_gene_variant,,ENST00000569382,;MAZ,upstream_gene_variant,,ENST00000569978,;MAZ,upstream_gene_variant,,ENST00000616501,;PRRT2,upstream_gene_variant,,ENST00000636619,;PRRT2,upstream_gene_variant,,ENST00000637565,;PRRT2,upstream_gene_variant,,ENST00000637596,;AC009133.2,intron_variant,,ENST00000566537,;AC009133.1,downstream_gene_variant,,ENST00000563806,;AC009133.1,downstream_gene_variant,,ENST00000569039,;AC009133.1,downstream_gene_variant,,ENST00000569981,;AC009133.4,upstream_gene_variant,,ENST00000619159,;AC009133.5,upstream_gene_variant,,ENST00000562594,;PRRT2,upstream_gene_variant,,ENST00000568516,;PRRT2,upstream_gene_variant,,ENST00000636001,;PRRT2,upstream_gene_variant,,ENST00000637542,;MAZ,intron_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000565777,;KIF22,downstream_gene_variant,,ENST00000568312,;PRRT2,upstream_gene_variant,,ENST00000636131,;PRRT2,upstream_gene_variant,,ENST00000637290,;,regulatory_region_variant,,ENSR00000280275,; G ENSG00000103495 ENST00000219782 Transcript missense_variant 525/2698 419/1482 140/493 V/G gTg/gGg 1 1 MAZ HGNC HGNC:6914 protein_coding YES CCDS42144.1 ENSP00000219782 P56270 UPI00001AE621 NM_001042539.2 deleterious_low_confidence(0.01) benign(0.007) 2/6 Gene3D:3.30.60.60,hmmpanther:PTHR45257,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 29807204 CES1 . GRCh38 chr16 55833022 55833022 + Missense_Mutation SNP A A C rs12149366 7316-370 BS_HS2BZ6T2 A A c.34T>G p.Ser12Ala p.S12A ENST00000360526 1/14 58 47 8 22 22 0 CES1,missense_variant,p.Ser12Ala,ENST00000422046,NM_001266.4;CES1,missense_variant,p.Ser12Ala,ENST00000360526,NM_001025195.1;CES1,missense_variant,p.Ser12Ala,ENST00000361503,NM_001025194.1;CES1,upstream_gene_variant,,ENST00000566555,;CES1,non_coding_transcript_exon_variant,,ENST00000563005,;CES1,non_coding_transcript_exon_variant,,ENST00000565403,;,regulatory_region_variant,,ENSR00000086237,; C ENSG00000198848 ENST00000360526 Transcript missense_variant 137/2006 34/1707 12/568 S/A Tct/Gct rs12149366,COSM4777317 1 -1 CES1 HGNC HGNC:1863 protein_coding YES CCDS32450.1 ENSP00000353720 P23141 UPI000054B390 NM_001025195.1 tolerated(1) benign(0) 1/14 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF361 0.0641 0.0507 0.0504 0.0804 0.0666 0.0726 0.008087 0.001906 0,1 27662362,20653675 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.006151 0.01384 0.003931 0.001982 0.01658 0.0005087 0.002965 0.007567 0.01596 55833022 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 103 85 16 34 34 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 CASC3 . GRCh38 chr17 40140599 40140599 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.51A>C p.Glu17Asp p.E17D ENST00000264645 1/14 88 72 12 32 31 0 CASC3,missense_variant,p.Glu17Asp,ENST00000264645,NM_007359.4;MSL1,downstream_gene_variant,,ENST00000398532,;CASC3,upstream_gene_variant,,ENST00000584997,;CASC3,non_coding_transcript_exon_variant,,ENST00000418132,;CASC3,non_coding_transcript_exon_variant,,ENST00000581849,;CASC3,non_coding_transcript_exon_variant,,ENST00000583649,;MSL1,downstream_gene_variant,,ENST00000339569,;MSL1,downstream_gene_variant,,ENST00000580086,;,regulatory_region_variant,,ENSR00000094037,; C ENSG00000108349 ENST00000264645 Transcript missense_variant 277/4116 51/2112 17/703 E/D gaA/gaC 1 1 CASC3 HGNC HGNC:17040 protein_coding YES CCDS11362.1 ENSP00000264645 O15234 UPI000000DAAA NM_007359.4 tolerated_low_confidence(0.73) benign(0.012) 1/14 PDB-ENSP_mappings:5xjc.x,hmmpanther:PTHR13434,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAT . . 40140599 PPM1E . GRCh38 chr17 58756192 58756192 + Missense_Mutation SNP A A C rs745942068 7316-370 BS_HS2BZ6T2 A A c.195A>C p.Glu65Asp p.E65D ENST00000308249 1/7 87 66 18 31 31 0 PPM1E,missense_variant,p.Glu65Asp,ENST00000308249,NM_014906.4;,regulatory_region_variant,,ENSR00000096303,; C ENSG00000175175 ENST00000308249 Transcript missense_variant 324/6542 195/2268 65/755 E/D gaA/gaC rs745942068 1 1 PPM1E HGNC HGNC:19322 protein_coding YES CCDS11613.1 ENSP00000312411 Q8WY54 UPI000013ECF6 NM_014906.4 tolerated_low_confidence(0.2) benign(0) 1/7 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 6.396e-06 4.176e-05 58756192 AATK . GRCh38 chr17 81120036 81120036 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.3783A>C p.Glu1261Asp p.E1261D ENST00000326724 12/14 82 67 13 34 33 1 AATK,missense_variant,p.Glu1261Asp,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Glu1158Asp,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,3_prime_UTR_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,; G ENSG00000181409 ENST00000326724 Transcript missense_variant 3808/5257 3783/4125 1261/1374 E/D gaA/gaC 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 tolerated(0.16) possibly_damaging(0.563) 12/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,mobidb-lite MODERATE SNV 5 PASS ATT . . 81120036 PTPN2 . GRCh38 chr18 12884129 12884129 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.13A>C p.Ile5Leu p.I5L ENST00000309660 1/9 92 80 9 17 17 0 PTPN2,missense_variant,p.Ile5Leu,ENST00000309660,NM_002828.3;PTPN2,missense_variant,p.Ile5Leu,ENST00000327283,NM_080422.2;PTPN2,missense_variant,p.Ile5Leu,ENST00000591115,NM_001207013.1;PTPN2,missense_variant,p.Ile5Leu,ENST00000353319,NM_080423.2;PTPN2,intron_variant,,ENST00000592059,;PTPN2,upstream_gene_variant,,ENST00000645191,;PTPN2,upstream_gene_variant,,ENST00000646492,;PTPN2,upstream_gene_variant,,ENST00000643397,;PTPN2,missense_variant,p.Ile5Leu,ENST00000645816,;PTPN2,missense_variant,p.Ile5Leu,ENST00000591305,;PTPN2,missense_variant,p.Ile5Leu,ENST00000592776,;PTPN2,missense_variant,p.Ile5Leu,ENST00000589216,;,regulatory_region_variant,,ENSR00000101024,; G ENSG00000175354 ENST00000309660 Transcript missense_variant 107/3467 13/1248 5/415 I/L Atc/Ctc 1 -1 PTPN2 HGNC HGNC:9650 protein_coding YES CCDS11865.1 ENSP00000311857 P17706 UPI000017284E NM_002828.3 deleterious(0.03) benign(0) 1/9 Gene3D:3.90.190.10,PIRSF_domain:PIRSF000926,PROSITE_profiles:PS50055,SMART_domains:SM00194 MODERATE 1 SNV 1 1 PASS ATG . . 12884129 APC2 . GRCh38 chr19 1468302 1468302 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.5001A>C p.Glu1667Asp p.E1667D ENST00000535453 14/14 95 79 14 35 35 0 APC2,missense_variant,p.Glu1667Asp,ENST00000535453,;APC2,missense_variant,p.Glu1667Asp,ENST00000233607,NM_005883.2,NM_001351273.1;C19orf25,intron_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000238483,;C19orf25,downstream_gene_variant,,ENST00000436106,;C19orf25,downstream_gene_variant,,ENST00000588871,;APC2,downstream_gene_variant,,ENST00000590469,;APC2,downstream_gene_variant,,ENST00000593146,;,regulatory_region_variant,,ENSR00000105698,; C ENSG00000115266 ENST00000535453 Transcript missense_variant 6714/11656 5001/6912 1667/2303 E/D gaA/gaC 1 1 APC2 HGNC HGNC:24036 protein_coding YES CCDS12068.1 ENSP00000442954 O95996 UPI0000073D85 tolerated(0.37) benign(0) 14/14 hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 1468302 SEMA6B . GRCh38 chr19 4543638 4543638 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.2630A>C p.Tyr877Ser p.Y877S ENST00000586582 17/17 99 85 12 29 28 0 SEMA6B,missense_variant,p.Tyr877Ser,ENST00000586582,NM_032108.3;SEMA6B,intron_variant,,ENST00000586965,;LRG1,upstream_gene_variant,,ENST00000306390,NM_052972.2;LRG1,upstream_gene_variant,,ENST00000586883,;AC011498.4,upstream_gene_variant,,ENST00000586020,;SEMA6B,downstream_gene_variant,,ENST00000589889,;,regulatory_region_variant,,ENSR00000106224,; G ENSG00000167680 ENST00000586582 Transcript missense_variant 2941/3986 2630/2667 877/888 Y/S tAt/tCt 1 -1 SEMA6B HGNC HGNC:10739 protein_coding YES CCDS12131.1 ENSP00000467290 Q9H3T3 UPI000004BA6B NM_032108.3 tolerated_low_confidence(0.18) benign(0.01) 17/17 mobidb-lite,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10 MODERATE 1 SNV 1 PASS ATA . . 4543638 ZNF700 . GRCh38 chr19 11949190 11949190 + Missense_Mutation SNP G G C rs139554356 7316-370 BS_HS2BZ6T2 G G c.1175G>C p.Arg392Pro p.R392P ENST00000622593 4/4 69 62 5 36 35 0 ZNF700,missense_variant,p.Arg371Pro,ENST00000482090,;ZNF700,missense_variant,p.Arg392Pro,ENST00000622593,NM_001271848.1;ZNF700,missense_variant,p.Arg389Pro,ENST00000254321,NM_144566.2;AC008770.2,intron_variant,,ENST00000590798,;AC008770.2,intron_variant,,ENST00000591944,;AC008770.3,intron_variant,,ENST00000586394,;AC008770.2,intron_variant,,ENST00000591441,;AC008770.2,upstream_gene_variant,,ENST00000586354,; C ENSG00000196757 ENST00000622593 Transcript missense_variant 1318/2901 1175/2238 392/745 R/P cGc/cCc rs139554356,COSM1581976 1 1 ZNF700 HGNC HGNC:25292 protein_coding YES CCDS74289.1 ENSP00000479449 A0A087WVH9 UPI0002A097BD NM_001271848.1 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF24,hmmpanther:PTHR24379,Gene3D:3.30.160.60,Superfamily_domains:SSF57667 0.0036 0.0136 0.01089 0,1 MODERATE SNV 4 0,1 PASS CGC . . 0.0006351 0.009585 0.0001822 1.801e-05 0.0001842 11949190 ZNF429 . GRCh38 chr19 21537351 21537351 + Missense_Mutation SNP T T A 7316-370 BS_HS2BZ6T2 T T c.1298T>A p.Val433Asp p.V433D ENST00000358491 4/4 70 52 8 30 29 0 ZNF429,missense_variant,p.Val433Asp,ENST00000358491,NM_001001415.2;ZNF429,missense_variant,p.Val402Asp,ENST00000618549,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,; A ENSG00000197013 ENST00000358491 Transcript missense_variant 1506/2233 1298/2025 433/674 V/D gTt/gAt COSM1559522 1 1 ZNF429 HGNC HGNC:20817 protein_coding YES CCDS42537.1 ENSP00000351280 Q86V71 UPI000022ABC2 NM_001001415.2 deleterious(0.01) benign(0.314) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384:SF112,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 3 1 1 PASS GTT . . 21537351 LRP3 . GRCh38 chr19 33194787 33194787 + Translation_Start_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.2T>G p.Met1? p.M1? ENST00000253193 1/7 50 39 9 34 33 1 LRP3,start_lost,p.Met1?,ENST00000253193,NM_002333.3;LRP3,intron_variant,,ENST00000592484,;LRP3,upstream_gene_variant,,ENST00000590275,;,regulatory_region_variant,,ENSR00000108781,; G ENSG00000130881 ENST00000253193 Transcript start_lost 204/3807 2/2313 1/770 M/R aTg/aGg 1 1 LRP3 HGNC HGNC:6695 protein_coding YES CCDS12430.1 ENSP00000253193 O75074 UPI0000047A9C NM_002333.3 deleterious_low_confidence(0) benign(0.093) 1/7 HIGH 1 SNV 1 PASS ATG . . 33194787 SCN1B . GRCh38 chr19 35030822 35030822 + Translation_Start_Site SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.2T>G p.Met1? p.M1? ENST00000415950 1/3 74 60 10 33 33 0 SCN1B,start_lost,p.Met1?,ENST00000415950,NM_199037.4;SCN1B,start_lost,p.Met1?,ENST00000262631,;SCN1B,start_lost,p.Met1?,ENST00000638536,NM_001037.4;SCN1B,start_lost,p.Met1?,ENST00000595652,;GRAMD1A,downstream_gene_variant,,ENST00000317991,NM_001320034.1,NM_020895.4;GRAMD1A,downstream_gene_variant,,ENST00000411896,NM_001136199.2,NM_001320035.1;SCN1B,upstream_gene_variant,,ENST00000596348,NM_001321605.1;GRAMD1A,downstream_gene_variant,,ENST00000599564,NM_001320036.1;SCN1B,upstream_gene_variant,,ENST00000640135,;GRAMD1A,downstream_gene_variant,,ENST00000598118,;GRAMD1A,downstream_gene_variant,,ENST00000600231,;,regulatory_region_variant,,ENSR00000108936,; G ENSG00000105711 ENST00000415950 Transcript start_lost 110/4537 2/807 1/268 M/R aTg/aGg 1 1 SCN1B HGNC HGNC:10586 protein_coding YES CCDS46047.1 ENSP00000396915 Q07699 UPI00000473F0 NM_199037.4 deleterious_low_confidence(0) benign(0.151) 1/3 PROSITE_profiles:PS51257,hmmpanther:PTHR10546,hmmpanther:PTHR10546:SF2,Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 1 PASS ATG . . 35030822 SBSN . GRCh38 chr19 35527545 35527545 + Missense_Mutation SNP G G T novel 7316-370 BS_HS2BZ6T2 G G c.737C>A p.Ala246Asp p.A246D ENST00000452271 1/4 88 69 9 31 28 0 SBSN,missense_variant,p.Ala246Asp,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; T ENSG00000189001 ENST00000452271 Transcript missense_variant 766/1945 737/1773 246/590 A/D gCc/gAc 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 deleterious(0.04) benign(0.367) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GGC . . 35527545 ZNF382 . GRCh38 chr19 36626994 36626994 + Missense_Mutation SNP C C A novel 7316-370 BS_HS2BZ6T2 C C c.1097C>A p.Thr366Asn p.T366N ENST00000292928 5/5 86 74 5 35 35 0 ZNF382,missense_variant,p.Thr366Asn,ENST00000292928,NM_032825.4;ZNF382,missense_variant,p.Thr365Asn,ENST00000435416,;ZNF382,missense_variant,p.Thr365Asn,ENST00000439428,NM_001256838.1;ZNF382,missense_variant,p.Thr317Asn,ENST00000423582,;ZNF382,missense_variant,p.Thr74Asn,ENST00000639288,;ZNF382,downstream_gene_variant,,ENST00000590785,;ZNF382,upstream_gene_variant,,ENST00000585467,; A ENSG00000161298 ENST00000292928 Transcript missense_variant 1210/8329 1097/1653 366/550 T/N aCc/aAc 1 1 ZNF382 HGNC HGNC:17409 protein_coding YES CCDS33004.1 ENSP00000292928 Q96SR6 UPI000013E0E2 NM_032825.4 tolerated(0.66) benign(0.048) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24404:SF22,hmmpanther:PTHR24404,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.28.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ACC . . 36626994 ZNF283 . GRCh38 chr19 43847843 43847843 + Nonsense_Mutation SNP C C A rs115541142 7316-370 BS_HS2BZ6T2 C C c.1242C>A p.Cys414Ter p.C414* ENST00000618787 7/7 78 62 5 35 34 0 ZNF283,stop_gained,p.Cys414Ter,ENST00000618787,NM_181845.1;ZNF283,stop_gained,p.Cys275Ter,ENST00000588797,NM_001297752.1;ZNF283,stop_gained,p.Cys414Ter,ENST00000324461,; A ENSG00000167637 ENST00000618787 Transcript stop_gained 1539/5713 1242/2040 414/679 C/* tgC/tgA rs115541142 1 1 ZNF283 HGNC HGNC:13077 protein_coding YES CCDS46097.1 ENSP00000484852 Q8N7M2 UPI000155B91C NM_181845.1 7/7 Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377:SF142,SMART_domains:SM00355,Superfamily_domains:SSF57667 HIGH 1 SNV 2 PASS GCG . . 43847843 ZNF283 . GRCh38 chr19 43847852 43847852 + Missense_Mutation SNP T T A novel 7316-370 BS_HS2BZ6T2 T T c.1251T>A p.Ser417Arg p.S417R ENST00000618787 7/7 79 63 6 37 35 0 ZNF283,missense_variant,p.Ser417Arg,ENST00000618787,NM_181845.1;ZNF283,missense_variant,p.Ser278Arg,ENST00000588797,NM_001297752.1;ZNF283,missense_variant,p.Ser417Arg,ENST00000324461,; A ENSG00000167637 ENST00000618787 Transcript missense_variant 1548/5713 1251/2040 417/679 S/R agT/agA 1 1 ZNF283 HGNC HGNC:13077 protein_coding YES CCDS46097.1 ENSP00000484852 Q8N7M2 UPI000155B91C NM_181845.1 tolerated(0.19) possibly_damaging(0.684) 7/7 Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377:SF142,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GTC . . 43847852 LMTK3 . GRCh38 chr19 48497827 48497827 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.3329A>C p.Asn1110Thr p.N1110T ENST00000270238 12/16 79 61 12 34 33 0 LMTK3,missense_variant,p.Asn1081Thr,ENST00000600059,;LMTK3,missense_variant,p.Asn1110Thr,ENST00000270238,NM_001080434.1; G ENSG00000142235 ENST00000270238 Transcript missense_variant 3329/4972 3329/4470 1110/1489 N/T aAc/aCc 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0.01) benign(0.017) 12/16 mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 48497827 KCNC3 . GRCh38 chr19 50323140 50323140 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.1813A>C p.Met605Leu p.M605L ENST00000477616 2/5 100 73 14 29 27 1 KCNC3,missense_variant,p.Met605Leu,ENST00000376959,;KCNC3,missense_variant,p.Met605Leu,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000474951,; G ENSG00000131398 ENST00000477616 Transcript missense_variant 2108/3176 1813/2274 605/757 M/L Atg/Ctg 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 tolerated_low_confidence(0.59) benign(0) 2/5 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF184,mobidb-lite MODERATE 1 SNV 1 1 PASS ATG . . 50323140 VSIG10L . GRCh38 chr19 51340065 51340065 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.1424A>C p.Asn475Thr p.N475T ENST00000335624 4/10 108 89 12 29 29 0 VSIG10L,missense_variant,p.Asn475Thr,ENST00000335624,NM_001163922.1;AC008750.3,upstream_gene_variant,,ENST00000594311,;AC008750.3,upstream_gene_variant,,ENST00000601148,;VSIG10L,upstream_gene_variant,,ENST00000600663,;,regulatory_region_variant,,ENSR00000111162,; G ENSG00000186806 ENST00000335624 Transcript missense_variant 1424/3397 1424/2604 475/867 N/T aAc/aCc 1 -1 VSIG10L HGNC HGNC:27111 protein_coding YES CCDS54300.1 ENSP00000335623 Q86VR7 UPI00001D8188 NM_001163922.1 deleterious(0.02) benign(0.324) 4/10 Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR45259,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd00096 MODERATE 1 SNV 5 PASS GTT . . 51340065 LILRB4 . GRCh38 chr19 54664454 54664454 + Missense_Mutation SNP C C G rs768951096 7316-370 BS_HS2BZ6T2 C C c.624C>G p.His208Gln p.H208Q ENST00000391736 6/14 84 77 7 31 31 0 LILRB4,missense_variant,p.His208Gln,ENST00000391736,NM_001278426.3;LILRB4,missense_variant,p.His208Gln,ENST00000430952,NM_001278427.3;LILRB4,missense_variant,p.His208Gln,ENST00000391733,NM_001278429.3,NM_001278428.3;LILRB4,missense_variant,p.His208Gln,ENST00000391734,;LILRB4,missense_variant,p.His208Gln,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000270452,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,3_prime_UTR_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000470943,; G ENSG00000186818 ENST00000391736 Transcript missense_variant 939/4002 624/1347 208/448 H/Q caC/caG rs768951096,COSM5507343 1 1 LILRB4 HGNC HGNC:6608 protein_coding YES CCDS12902.1 ENSP00000375616 Q8NHJ6 UPI0000034C02 NM_001278426.3 tolerated(0.47) benign(0.007) 6/14 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF30,Superfamily_domains:SSF48726 0,1 MODERATE 1 SNV 5 0,1 PASS ACC . . 54664454 ZNF544 . GRCh38 chr19 58261858 58261858 + Missense_Mutation SNP A A T rs1318311059 7316-370 BS_HS2BZ6T2 A A c.1252A>T p.Thr418Ser p.T418S ENST00000269829 4/4 80 71 8 30 30 0 ZNF544,missense_variant,p.Thr418Ser,ENST00000269829,;ZNF544,missense_variant,p.Thr390Ser,ENST00000600220,NM_001320773.1,NM_001320771.1;ZNF544,missense_variant,p.Thr418Ser,ENST00000596652,NM_001320769.1,NM_001320787.1,NM_001320774.1,NM_014480.3,NM_001320767.1,NM_001320777.1,NM_001320786.1,NM_001320785.1;ZNF544,missense_variant,p.Thr390Ser,ENST00000600044,NM_001320770.1;ZNF544,missense_variant,p.Thr276Ser,ENST00000599953,;ZNF544,3_prime_UTR_variant,,ENST00000599227,NM_001320791.1,NM_001320792.1,NM_001320788.1;ZNF544,3_prime_UTR_variant,,ENST00000596825,NM_001320789.1,NM_001320781.1;ZNF544,intron_variant,,ENST00000595981,;ZNF544,intron_variant,,ENST00000596929,NM_001320782.1;ZNF544,downstream_gene_variant,,ENST00000594384,;AC020915.3,intron_variant,,ENST00000597230,;AC020915.2,upstream_gene_variant,,ENST00000595301,;ZNF544,downstream_gene_variant,,ENST00000598880,;ZNF544,3_prime_UTR_variant,,ENST00000596677,;AC020915.5,intron_variant,,ENST00000637233,;AC020915.5,intron_variant,,ENST00000637310,; T ENSG00000198131 ENST00000269829 Transcript missense_variant 1313/3547 1252/2148 418/715 T/S Acc/Tcc rs1318311059 1 1 ZNF544 HGNC HGNC:16759 protein_coding YES CCDS12973.1 ENSP00000269829 Q6NX49 UPI000013D856 tolerated(1) benign(0.021) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CAC . . 58261858 SCRT2 . GRCh38 chr20 675471 675471 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.131A>C p.Asn44Thr p.N44T ENST00000246104 1/2 82 64 13 32 32 0 SCRT2,missense_variant,p.Asn44Thr,ENST00000246104,NM_033129.3;AL121758.1,missense_variant,p.Asn44Thr,ENST00000488788,;,regulatory_region_variant,,ENSR00000133465,; G ENSG00000215397 ENST00000246104 Transcript missense_variant,splice_region_variant 709/3577 131/924 44/307 N/T aAc/aCc 1 -1 SCRT2 HGNC HGNC:15952 protein_coding YES CCDS13006.1 ENSP00000246104 Q9NQ03 UPI00002318AA NM_033129.3 tolerated(0.14) benign(0.018) 1/2 mobidb-lite,hmmpanther:PTHR44270,hmmpanther:PTHR44270:SF3 MODERATE 1 SNV 1 PASS GTT . . 675471 ZNF343 . GRCh38 chr20 2483738 2483738 + Missense_Mutation SNP G G T rs778567181 7316-370 BS_HS2BZ6T2 G G c.1346C>A p.Pro449His p.P449H ENST00000612935 8/8 90 70 12 28 28 0 ZNF343,missense_variant,p.Pro449His,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Pro408His,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Pro318His,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; T ENSG00000088876 ENST00000612935 Transcript missense_variant 1760/3675 1346/1923 449/640 P/H cCt/cAt rs778567181 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 deleterious(0) probably_damaging(0.926) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,Gene3D:2.40.155.10,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS AGG . . 2483738 CCM2L . GRCh38 chr20 32019033 32019033 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.557A>C p.Lys186Thr p.K186T ENST00000262659 5/9 105 83 14 35 35 0 CCM2L,missense_variant,p.Lys186Thr,ENST00000262659,NM_080625.3;CCM2L,upstream_gene_variant,,ENST00000452892,;,regulatory_region_variant,,ENSR00000136079,; C ENSG00000101331 ENST00000262659 Transcript missense_variant 562/2523 557/1302 186/433 K/T aAg/aCg 1 1 CCM2L HGNC HGNC:16153 protein_coding YES CCDS13195.1 ENSP00000262659 Q9NUG4 UPI0000070921 NM_080625.3 deleterious_low_confidence(0.05) benign(0.031) 5/9 Gene3D:2.30.29.30,hmmpanther:PTHR21642,hmmpanther:PTHR21642:SF2,cd13166,mobidb-lite MODERATE 1 SNV 1 PASS AAG . . 32019033 SOX18 . GRCh38 chr20 64048762 64048762 + Missense_Mutation SNP A A C novel 7316-370 BS_HS2BZ6T2 A A c.559T>G p.Phe187Val p.F187V ENST00000340356 2/2 117 105 11 25 25 0 SOX18,missense_variant,p.Phe187Val,ENST00000340356,NM_018419.2;TCEA2,upstream_gene_variant,,ENST00000475792,; C ENSG00000203883 ENST00000340356 Transcript missense_variant 684/1864 559/1155 187/384 F/V Ttc/Gtc 1 -1 SOX18 HGNC HGNC:11194 protein_coding YES CCDS13552.1 ENSP00000341815 P35713 UPI0000001C70 NM_018419.2 tolerated(0.46) benign(0.001) 2/2 hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF204,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAA . . 64048762 RUNX1 . GRCh38 chr21 34792313 34792313 + Missense_Mutation SNP T T C novel 7316-370 BS_HS2BZ6T2 T T c.1265A>G p.Glu422Gly p.E422G ENST00000300305 8/8 68 48 6 27 27 0 RUNX1,missense_variant,p.Glu395Gly,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Glu422Gly,ENST00000300305,;RUNX1,missense_variant,p.Glu422Gly,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Glu331Gly,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1710/6222 1265/1443 422/480 E/G gAg/gGg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0.02) benign(0.079) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS CTC . . 34792313 KRTAP10-1 . GRCh38 chr21 44539641 44539641 + Missense_Mutation SNP A A C rs782562472 7316-370 BS_HS2BZ6T2 A A c.510T>G p.His170Gln p.H170Q ENST00000400375 1/1 94 85 8 23 23 0 KRTAP10-1,missense_variant,p.His170Gln,ENST00000400375,NM_198691.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000397916,;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000215455 ENST00000400375 Transcript missense_variant 555/1215 510/849 170/282 H/Q caT/caG rs782562472,COSM4391828 1 -1 KRTAP10-1 HGNC HGNC:22966 protein_coding YES CCDS42954.1 ENSP00000383226 P60331 UPI00003D4D6C NM_198691.2 tolerated(1) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF125,hmmpanther:PTHR23262 0,1 MODERATE SNV 0,1 PASS GAT . . 1.225e-05 1.793e-05 3.26e-05 44539641 TRIOBP . GRCh38 chr22 37723794 37723794 + Missense_Mutation SNP A A G rs71317064 7316-370 BS_HS2BZ6T2 A A c.1238A>G p.Lys413Arg p.K413R ENST00000406386 7/24 79 59 11 24 23 0 TRIOBP,missense_variant,p.Lys413Arg,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Lys413Arg,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; G ENSG00000100106 ENST00000406386 Transcript missense_variant 1509/10145 1238/7098 413/2365 K/R aAa/aGa rs71317064,COSM230417 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 tolerated_low_confidence(1) benign(0) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 1 PASS AAA . . 5.702e-05 5.809e-05 4.484e-05 8.061e-05 0.0001842 6.555e-05 37723794 GTPBP6 . GRCh38 chrX 318651 318651 + Missense_Mutation SNP T T G novel 7316-370 BS_HS2BZ6T2 T T c.137A>C p.Asn46Thr p.N46T ENST00000326153 1/10 104 82 19 35 34 0 GTPBP6,missense_variant,p.Asn46Thr,ENST00000326153,NM_012227.3;LINC00685,upstream_gene_variant,,ENST00000391707,;,regulatory_region_variant,,ENSR00000243689,; G ENSG00000178605 ENST00000326153 Transcript missense_variant 169/1907 137/1551 46/516 N/T aAt/aCt 1 -1 GTPBP6 HGNC HGNC:30189 protein_coding YES CCDS75943.1 ENSP00000316598 O43824 UPI00043B9035 NM_012227.3 tolerated(0.6) unknown(0) 1/10 mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 318651 FAM47C . GRCh38 chrX 37009783 37009783 + Missense_Mutation SNP G G T rs200849623 7316-370 BS_HS2BZ6T2 G G c.1373G>T p.Arg458Leu p.R458L ENST00000358047 1/1 45 37 6 19 18 0 FAM47C,missense_variant,p.Arg458Leu,ENST00000358047,NM_001013736.2;,regulatory_region_variant,,ENSR00000340352,; T ENSG00000198173 ENST00000358047 Transcript missense_variant 1387/3270 1373/3108 458/1035 R/L cGg/cTg rs200849623 1 1 FAM47C HGNC HGNC:25301 protein_coding YES CCDS35227.1 ENSP00000367913 Q5HY64 UPI000041ABF8 NM_001013736.2 tolerated(0.12) possibly_damaging(0.761) 1/1 mobidb-lite,hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642 0.0003 0.0013 MODERATE 1 SNV 1 PASS CGG . . 0.0001467 3.864e-05 6.081e-05 0.0003003 37009783 GCNA . GRCh38 chrX 71604160 71604160 + Missense_Mutation SNP T T C rs761086272 7316-370 BS_HS2BZ6T2 T T c.883T>C p.Ser295Pro p.S295P ENST00000373695 7/12 32 21 6 11 11 0 GCNA,missense_variant,p.Ser295Pro,ENST00000373695,;GCNA,missense_variant,p.Ser295Pro,ENST00000373696,NM_052957.4;GCNA,upstream_gene_variant,,ENST00000471950,; C ENSG00000147174 ENST00000373695 Transcript missense_variant 1420/3213 883/2076 295/691 S/P Tcc/Ccc rs761086272,COSM1570044 1 1 GCNA HGNC HGNC:15805 protein_coding YES CCDS35326.1 ENSP00000362799 Q96QF7 UPI0000072023 tolerated_low_confidence(0.42) benign(0) 7/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23099 0,1 MODERATE 1 SNV 1 0,1 PASS TTC . . 0.0002763 0.0008498 0.0002931 0.0002852 8.598e-05 0.0003071 0.0005237 5.704e-05 71604160 ARMCX4 . GRCh38 chrX 101491003 101491003 + Missense_Mutation SNP A A G rs944358836 7316-370 BS_HS2BZ6T2 A A c.2414A>G p.Lys805Arg p.K805R ENST00000423738 2/2 42 34 8 16 16 0 ARMCX4,missense_variant,p.Lys805Arg,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; G ENSG00000196440 ENST00000423738 Transcript missense_variant 2616/7424 2414/6873 805/2290 K/R aAg/aGg rs944358836 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.29) probably_damaging(0.981) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS AAG . . 101491003 CDK11B . GRCh38 chr1 1641724 1641732 + In_Frame_Del DEL TCCTCCTCC TCCTCCTCC - rs200429680 7316-475 BS_JGTBRH16 TCCTCCTCC TCCTCCTCC c.978_986del p.Glu334_Glu336del p.E334_E336del ENST00000407249 9/20 46 34 10 29 26 0 CDK11B,inframe_deletion,p.Glu321_Glu323del,ENST00000341832,NM_033487.2,NM_001291345.1,NM_033486.2,NM_033490.2;CDK11B,inframe_deletion,p.Glu334_Glu336del,ENST00000407249,NM_001787.2;CDK11B,inframe_deletion,p.Glu287_Glu289del,ENST00000340677,NM_033489.2;CDK11B,inframe_deletion,p.Glu324_Glu326del,ENST00000629312,;CDK11B,inframe_deletion,p.Glu322_Glu324del,ENST00000629289,;CDK11B,inframe_deletion,p.Glu311_Glu313del,ENST00000626918,;CDK11B,downstream_gene_variant,,ENST00000341028,;CDK11B,3_prime_UTR_variant,,ENST00000611150,;CDK11B,3_prime_UTR_variant,,ENST00000615951,; - ENSG00000248333 ENST00000407249 Transcript inframe_deletion 1090-1098/2677 978-986/2388 326-329/795 EEEE/E gaGGAGGAGGAa/gaa rs200429680,COSM4591988,COSM4591987 1 -1 CDK11B HGNC HGNC:1729 protein_coding YES CCDS72683.1 ENSP00000464036 P21127 UPI0003EAF5FB NM_001787.2 9/20 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF332,Gene3D:3.30.200.20 0,1,1 MODERATE 1 deletion 1 0,1,1 PASS CTTCCTCCTCCT . . 0.1702 0.03298 0.1967 0.3275 0.0645 0.227 0.2659 0.207 0.1266 1641723 RERE . GRCh38 chr1 8358414 8358414 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.4121T>G p.Leu1374Trp p.L1374W ENST00000337907 21/24 81 67 11 54 54 0 RERE,missense_variant,p.Leu1374Trp,ENST00000337907,NM_012102.3;RERE,missense_variant,p.Leu1106Trp,ENST00000377464,;RERE,missense_variant,p.Leu1374Trp,ENST00000400908,NM_001042681.1;RERE,missense_variant,p.Leu820Trp,ENST00000476556,NM_001042682.1;RERE,intron_variant,,ENST00000400907,;RERE,intron_variant,,ENST00000505225,;RERE,upstream_gene_variant,,ENST00000467350,; C ENSG00000142599 ENST00000337907 Transcript missense_variant 4756/8026 4121/4701 1374/1566 L/W tTg/tGg 1 -1 RERE HGNC HGNC:9965 protein_coding YES CCDS95.1 ENSP00000338629 Q9P2R6 A0A024R4E9 UPI00001419CC NM_012102.3 deleterious_low_confidence(0) probably_damaging(0.996) 21/24 Pfam_domain:PF03154,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF12 MODERATE 1 SNV 1 1 PASS CAA . . 8358414 FAM43B . GRCh38 chr1 20553695 20553695 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.722A>C p.Asn241Thr p.N241T ENST00000332947 1/1 99 79 13 63 63 0 FAM43B,missense_variant,p.Asn241Thr,ENST00000332947,NM_207334.2;,regulatory_region_variant,,ENSR00000002627,; C ENSG00000183114 ENST00000332947 Transcript missense_variant 1257/2572 722/990 241/329 N/T aAt/aCt 1 1 FAM43B HGNC HGNC:31791 protein_coding YES CCDS209.1 ENSP00000331397 Q6ZT52 UPI00001C0D42 NM_207334.2 tolerated(0.46) probably_damaging(0.934) 1/1 hmmpanther:PTHR11232:SF34,hmmpanther:PTHR11232,Pfam_domain:PF14719 MODERATE 1 SNV PASS AAT . . 20553695 KIAA1522 . GRCh38 chr1 32742004 32742004 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.50A>C p.Asn17Thr p.N17T ENST00000401073 1/7 51 38 10 56 54 1 KIAA1522,missense_variant,p.Asn17Thr,ENST00000401073,NM_020888.2;,regulatory_region_variant,,ENSR00000004400,; C ENSG00000162522 ENST00000401073 Transcript missense_variant 120/5438 50/3285 17/1094 N/T aAc/aCc 1 1 KIAA1522 HGNC HGNC:29301 protein_coding YES CCDS41298.1 ENSP00000383851 Q9P206 UPI000022ACD0 NM_020888.2 tolerated_low_confidence(0.2) benign(0.01) 1/7 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 2 PASS AAC . . 32742004 KIAA1522 . GRCh38 chr1 32769889 32769889 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.710A>C p.Asn237Thr p.N237T ENST00000401073 6/7 68 60 7 42 42 0 KIAA1522,missense_variant,p.Asn237Thr,ENST00000401073,NM_020888.2;KIAA1522,missense_variant,p.Asn178Thr,ENST00000373480,NM_001198972.1;KIAA1522,missense_variant,p.Asn189Thr,ENST00000373481,;KIAA1522,intron_variant,,ENST00000294521,NM_001198973.1;KIAA1522,downstream_gene_variant,,ENST00000468130,;,regulatory_region_variant,,ENSR00000004408,; C ENSG00000162522 ENST00000401073 Transcript missense_variant 780/5438 710/3285 237/1094 N/T aAt/aCt 1 1 KIAA1522 HGNC HGNC:29301 protein_coding YES CCDS41298.1 ENSP00000383851 Q9P206 UPI000022ACD0 NM_020888.2 tolerated(0.12) benign(0.157) 6/7 hmmpanther:PTHR23039:SF6,hmmpanther:PTHR23039 MODERATE 1 SNV 2 PASS AAT . . 32769889 TCHH . GRCh38 chr1 152108526 152108526 + Missense_Mutation SNP C C A rs879174342 7316-475 BS_JGTBRH16 C C c.4691G>T p.Arg1564Leu p.R1564L ENST00000614923 3/3 64 51 8 38 36 0 TCHH,missense_variant,p.Arg1564Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg1564Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,;,TF_binding_site_variant,,MA0139.1,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 4786/6995 4691/5832 1564/1943 R/L cGc/cTc rs879174342,COSM6507740,COSM3740655 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.78) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GCG . . 152108526 FLG2 . GRCh38 chr1 152351932 152351932 + Nonsense_Mutation SNP C C A rs1403594309 7316-475 BS_JGTBRH16 C C c.5854G>T p.Gly1952Ter p.G1952* ENST00000388718 3/3 67 55 5 52 51 0 FLG2,stop_gained,p.Gly1952Ter,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript stop_gained 5927/9124 5854/7176 1952/2391 G/* Gga/Tga rs1403594309,COSM6285886 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 HIGH SNV 5 0,1 1 PASS CCC . . 152351932 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 92 72 16 54 54 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 IRF2BP2 . GRCh38 chr1 234608840 234608840 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.655A>C p.Thr219Pro p.T219P ENST00000366609 1/2 82 52 16 58 58 0 IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366609,NM_182972.2;IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366610,NM_001077397.1;AL160408.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;,regulatory_region_variant,,ENSR00000257385,; G ENSG00000168264 ENST00000366609 Transcript missense_variant 686/4663 655/1764 219/587 T/P Acc/Ccc 1 -1 IRF2BP2 HGNC HGNC:21729 protein_coding YES CCDS1602.1 ENSP00000355568 Q7Z5L9 UPI000004FA32 NM_182972.2 tolerated(0.33) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18 MODERATE 1 SNV 1 1 PASS GTT . . 234608840 HNRNPU . GRCh38 chr1 244863728 244863728 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.580T>G p.Phe194Val p.F194V ENST00000640218 1/14 72 59 9 41 41 0 HNRNPU,missense_variant,p.Phe194Val,ENST00000640218,NM_031844.2;HNRNPU,missense_variant,p.Phe194Val,ENST00000444376,NM_004501.3;HNRNPU,missense_variant,p.Phe194Val,ENST00000283179,;HNRNPU,missense_variant,p.Phe122Val,ENST00000638475,;HNRNPU,upstream_gene_variant,,ENST00000440865,;HNRNPU,upstream_gene_variant,,ENST00000483966,;HNRNPU,upstream_gene_variant,,ENST00000638716,;HNRNPU,upstream_gene_variant,,ENST00000639628,;HNRNPU,upstream_gene_variant,,ENST00000640001,;BX323046.1,upstream_gene_variant,,ENST00000610145,;HNRNPU,upstream_gene_variant,,ENST00000465881,;HNRNPU,missense_variant,p.Phe194Val,ENST00000640306,;HNRNPU,missense_variant,p.Phe94Val,ENST00000640440,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000638952,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000476241,;HNRNPU,upstream_gene_variant,,ENST00000366525,;HNRNPU,upstream_gene_variant,,ENST00000468690,;HNRNPU,upstream_gene_variant,,ENST00000638230,;HNRNPU,upstream_gene_variant,,ENST00000638301,;HNRNPU,upstream_gene_variant,,ENST00000638589,;HNRNPU,upstream_gene_variant,,ENST00000639667,;HNRNPU,upstream_gene_variant,,ENST00000639880,;HNRNPU,upstream_gene_variant,,ENST00000640056,;,regulatory_region_variant,,ENSR00000022956,; C ENSG00000153187 ENST00000640218 Transcript missense_variant 810/6858 580/2478 194/825 F/V Ttc/Gtc 1 -1 HNRNPU HGNC HGNC:5048 protein_coding YES CCDS41479.1 ENSP00000491215 Q00839 UPI000040E1C8 NM_031844.2 tolerated(0.51) benign(0.003) 1/14 hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF11,mobidb-lite MODERATE 1 SNV 1 1 PASS AAC . . 244863728 KLF11 . GRCh38 chr2 10043760 10043760 + Splice_Site SNP T T G rs777171582 7316-475 BS_JGTBRH16 T T c.42+2T>G p.X14_splice ENST00000305883 53 42 8 50 48 1 KLF11,splice_donor_variant,,ENST00000305883,NM_003597.4;KLF11,intron_variant,,ENST00000401510,;KLF11,upstream_gene_variant,,ENST00000440320,;KLF11,upstream_gene_variant,,ENST00000448523,;KLF11,upstream_gene_variant,,ENST00000535335,NM_001177718.1;KLF11,upstream_gene_variant,,ENST00000540845,NM_001177716.1;AC104794.2,upstream_gene_variant,,ENST00000567540,;,regulatory_region_variant,,ENSR00000112713,; G ENSG00000172059 ENST00000305883 Transcript splice_donor_variant rs777171582 1 1 KLF11 HGNC HGNC:11811 protein_coding YES CCDS1668.1 ENSP00000307023 O14901 Q53QU8 UPI000012DEDA NM_003597.4 1/3 HIGH 1 SNV 1 1 PASS GTG . . 1.061e-05 5.307e-05 10043760 C2orf16 . GRCh38 chr2 27581715 27581715 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.5143A>C p.Lys1715Gln p.K1715Q ENST00000408964 1/1 63 44 7 37 34 0 C2orf16,missense_variant,p.Lys5119Gln,ENST00000447166,;C2orf16,missense_variant,p.Lys1715Gln,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; C ENSG00000221843 ENST00000408964 Transcript missense_variant 5194/6200 5143/5955 1715/1984 K/Q Aag/Cag 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(0.2) benign(0.006) 1/1 hmmpanther:PTHR33888,hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS TAA . . 27581715 C2orf16 . GRCh38 chr2 27581736 27581736 + Missense_Mutation SNP G G T rs754248312 7316-475 BS_JGTBRH16 G G c.5164G>T p.Ala1722Ser p.A1722S ENST00000408964 1/1 62 50 6 36 35 0 C2orf16,missense_variant,p.Ala5126Ser,ENST00000447166,;C2orf16,missense_variant,p.Ala1722Ser,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; T ENSG00000221843 ENST00000408964 Transcript missense_variant 5215/6200 5164/5955 1722/1984 A/S Gct/Tct rs754248312 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(1) benign(0.006) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS CGC . . 4.593e-06 3.898e-05 27581736 LTBP1 . GRCh38 chr2 32947686 32947686 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.362A>C p.Asn121Thr p.N121T ENST00000404816 1/34 73 61 9 72 71 0 LTBP1,missense_variant,p.Asn121Thr,ENST00000404816,NM_206943.2;RF00019,upstream_gene_variant,,ENST00000384224,;,regulatory_region_variant,,ENSR00000115043,; C ENSG00000049323 ENST00000404816 Transcript missense_variant 715/6333 362/5166 121/1721 N/T aAt/aCt 1 1 LTBP1 HGNC HGNC:6714 protein_coding YES CCDS33177.2 ENSP00000386043 Q14766 UPI000173A4A4 NM_206943.2 tolerated_low_confidence(0.18) benign(0.003) 1/34 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS AAT . . 32947686 ARID5A . GRCh38 chr2 96550279 96550279 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.404A>C p.Tyr135Ser p.Y135S ENST00000357485 5/7 85 72 13 52 51 0 ARID5A,missense_variant,p.Tyr67Ser,ENST00000454558,NM_001319092.1,NM_001319096.1,NM_001319094.1,NM_001319093.1;ARID5A,missense_variant,p.Tyr135Ser,ENST00000357485,NM_001319087.1,NM_212481.2,NM_001319085.1;ARID5A,3_prime_UTR_variant,,ENST00000412735,;ARID5A,non_coding_transcript_exon_variant,,ENST00000497920,;ARID5A,non_coding_transcript_exon_variant,,ENST00000467498,;ARID5A,non_coding_transcript_exon_variant,,ENST00000470579,;,regulatory_region_variant,,ENSR00000120294,; C ENSG00000196843 ENST00000357485 Transcript missense_variant 482/2188 404/1785 135/594 Y/S tAc/tCc 1 1 ARID5A HGNC HGNC:17361 protein_coding YES CCDS33251.1 ENSP00000350078 Q03989 UPI00001C1DBB NM_001319087.1,NM_212481.2,NM_001319085.1 deleterious(0) probably_damaging(0.99) 5/7 Gene3D:1.10.150.60,Pfam_domain:PF01388,PROSITE_profiles:PS51011,hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF25,SMART_domains:SM00501,SMART_domains:SM01014,Superfamily_domains:SSF46774 MODERATE 1 SNV 1 PASS TAC . . 96550279 NPAS2 . GRCh38 chr2 100820417 100820417 + Splice_Region SNP A A C novel 7316-475 BS_JGTBRH16 A A c.-23+3A>C ENST00000335681 51 32 9 42 40 2 NPAS2,splice_region_variant,,ENST00000335681,NM_002518.3;NPAS2,upstream_gene_variant,,ENST00000427413,;AC092168.2,upstream_gene_variant,,ENST00000430586,;,regulatory_region_variant,,ENSR00000120718,; C ENSG00000170485 ENST00000335681 Transcript splice_region_variant,intron_variant 1 1 NPAS2 HGNC HGNC:7895 protein_coding YES CCDS2048.1 ENSP00000338283 Q99743 A2I2P5 UPI0000163B27 NM_002518.3 1/20 LOW 1 SNV 1 PASS TAA . . 100820417 ITGA6 . GRCh38 chr2 172427790 172427790 + Translation_Start_Site SNP T T G novel 7316-475 BS_JGTBRH16 T T c.2T>G p.Met1? p.M1? ENST00000409080 1/25 74 62 9 47 46 0 ITGA6,start_lost,p.Met1?,ENST00000264107,NM_000210.3;ITGA6,start_lost,p.Met1?,ENST00000409080,NM_001079818.2;ITGA6,start_lost,p.Met1?,ENST00000442250,;ITGA6,start_lost,p.Met1?,ENST00000458358,;ITGA6,intron_variant,,ENST00000409532,NM_001316306.1;ITGA6,intron_variant,,ENST00000412899,;AC078883.2,non_coding_transcript_exon_variant,,ENST00000441212,;AC078883.4,upstream_gene_variant,,ENST00000623218,;,regulatory_region_variant,,ENSR00000126322,; G ENSG00000091409 ENST00000409080 Transcript start_lost 2/5306 2/3276 1/1091 M/R aTg/aGg 1 1 ITGA6 HGNC HGNC:6142 protein_coding YES CCDS46451.1 ENSP00000386896 P23229 UPI0000EA87E5 NM_001079818.2 deleterious_low_confidence(0) possibly_damaging(0.6) 1/25 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 2 1 PASS ATG . . 172427790 HOXD9 . GRCh38 chr2 176123144 176123144 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.376T>G p.Phe126Val p.F126V ENST00000249499 1/2 83 58 20 62 62 0 HOXD9,missense_variant,p.Phe126Val,ENST00000249499,NM_014213.3;HOXD10,downstream_gene_variant,,ENST00000249501,NM_002148.3;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD10,downstream_gene_variant,,ENST00000490088,;HOXD10,downstream_gene_variant,,ENST00000549469,;,regulatory_region_variant,,ENSR00000126745,; G ENSG00000128709 ENST00000249499 Transcript missense_variant 425/1870 376/1059 126/352 F/V Ttc/Gtc 1 1 HOXD9 HGNC HGNC:5140 protein_coding YES CCDS2267.2 ENSP00000249499 P28356 UPI000004A10E NM_014213.3 deleterious(0.05) benign(0.103) 1/2 Low_complexity_(Seg):seg,mobidb-lite,Pfam_domain:PF04617,hmmpanther:PTHR24326:SF113,hmmpanther:PTHR24326 MODERATE 1 SNV 1 PASS CTT . . 176123144 SPEG . GRCh38 chr2 219448785 219448785 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1627A>C p.Lys543Gln p.K543Q ENST00000312358 4/41 77 58 15 69 66 0 SPEG,missense_variant,p.Lys543Gln,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Lys439Gln,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000403148,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000452101,;,regulatory_region_variant,,ENSR00000130551,; C ENSG00000072195 ENST00000312358 Transcript missense_variant 1759/10782 1627/9804 543/3267 K/Q Aag/Cag 1 1 SPEG HGNC HGNC:16901 protein_coding YES CCDS42824.1 ENSP00000311684 Q15772 UPI000066D99E NM_005876.4 tolerated(0.07) benign(0.182) 4/41 hmmpanther:PTHR45065,mobidb-lite MODERATE 1 SNV 5 1 PASS CAA . . 219448785 OBSL1 . GRCh38 chr2 219551753 219551753 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.5459T>G p.Val1820Gly p.V1820G ENST00000404537 20/21 81 69 12 46 46 0 OBSL1,missense_variant,p.Val1820Gly,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Val1728Gly,ENST00000373876,;TMEM198,downstream_gene_variant,,ENST00000344458,NM_001303098.1;TMEM198,downstream_gene_variant,,ENST00000373883,NM_001005209.2;TMEM198,downstream_gene_variant,,ENST00000421791,;TMEM198,downstream_gene_variant,,ENST00000451952,;OBSL1,downstream_gene_variant,,ENST00000456147,;OBSL1,downstream_gene_variant,,ENST00000603926,NM_001173431.1;OBSL1,downstream_gene_variant,,ENST00000604031,;MIR3132,upstream_gene_variant,,ENST00000581997,;AC009955.3,upstream_gene_variant,,ENST00000596829,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,non_coding_transcript_exon_variant,,ENST00000489804,;OBSL1,non_coding_transcript_exon_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000472388,;OBSL1,downstream_gene_variant,,ENST00000596474,; C ENSG00000124006 ENST00000404537 Transcript missense_variant 5516/5841 5459/5691 1820/1896 V/G gTt/gGt 1 -1 OBSL1 HGNC HGNC:29092 protein_coding YES CCDS46520.1 ENSP00000385636 O75147 UPI0000E07EA0 NM_015311.2 tolerated(0.25) probably_damaging(0.928) 20/21 PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF30,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 1 PASS AAC . . 219551753 ECEL1 . GRCh38 chr2 232486524 232486524 + Missense_Mutation SNP T T G 7316-475 BS_JGTBRH16 T T c.130A>C p.Ser44Arg p.S44R ENST00000304546 2/18 85 58 15 56 56 0 ECEL1,missense_variant,p.Ser44Arg,ENST00000304546,NM_004826.3;ECEL1,missense_variant,p.Ser44Arg,ENST00000409941,NM_001290787.1;ECEL1,upstream_gene_variant,,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;,regulatory_region_variant,,ENSR00000131948,; G ENSG00000171551 ENST00000304546 Transcript missense_variant 341/2865 130/2328 44/775 S/R Agc/Cgc COSM5658831 1 -1 ECEL1 HGNC HGNC:3147 protein_coding YES CCDS2493.1 ENSP00000302051 O95672 UPI000013E997 NM_004826.3 tolerated(0.33) benign(0.001) 2/18 Low_complexity_(Seg):seg,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF195 1 MODERATE 1 SNV 1 1 1 PASS CTG . . 232486524 ECEL1 . GRCh38 chr2 232486538 232486538 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.116T>G p.Leu39Trp p.L39W ENST00000304546 2/18 86 60 10 56 56 0 ECEL1,missense_variant,p.Leu39Trp,ENST00000304546,NM_004826.3;ECEL1,missense_variant,p.Leu39Trp,ENST00000409941,NM_001290787.1;ECEL1,upstream_gene_variant,,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;,regulatory_region_variant,,ENSR00000131948,; C ENSG00000171551 ENST00000304546 Transcript missense_variant 327/2865 116/2328 39/775 L/W tTg/tGg 1 -1 ECEL1 HGNC HGNC:3147 protein_coding YES CCDS2493.1 ENSP00000302051 O95672 UPI000013E997 NM_004826.3 deleterious(0.01) benign(0.221) 2/18 hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF195 MODERATE 1 SNV 1 1 PASS CAA . . 232486538 ITPR1 . GRCh38 chr3 4493603 4493603 + Splice_Region SNP A A C novel 7316-475 BS_JGTBRH16 A A c.-95A>C ENST00000302640 1/61 84 75 7 66 65 0 ITPR1,splice_region_variant,,ENST00000354582,;ITPR1,splice_region_variant,,ENST00000302640,NM_001168272.1;ITPR1,splice_region_variant,,ENST00000357086,NM_001099952.2;ITPR1,splice_region_variant,,ENST00000456211,NM_002222.5;ITPR1,splice_region_variant,,ENST00000544951,;ITPR1-DT,upstream_gene_variant,,ENST00000412804,;ITPR1,splice_region_variant,,ENST00000467056,;,regulatory_region_variant,,ENSR00000147880,; C ENSG00000150995 ENST00000302640 Transcript splice_region_variant,5_prime_UTR_variant 256/10197 1 1 ITPR1 HGNC HGNC:6180 protein_coding YES CCDS54551.1 ENSP00000306253 Q14643 UPI0000E5A461 NM_001168272.1 1/61 LOW SNV 5 1 PASS CAA . . 4493603 CRELD1 . GRCh38 chr3 9934579 9934579 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.141T>G p.His47Gln p.H47Q ENST00000326434 2/12 67 59 5 35 35 0 CRELD1,missense_variant,p.His47Gln,ENST00000383811,NM_015513.4;CRELD1,missense_variant,p.His47Gln,ENST00000326434,NM_001031717.3;CRELD1,missense_variant,p.His47Gln,ENST00000452070,NM_001077415.2;CRELD1,missense_variant,p.His47Gln,ENST00000397170,;IL17RC,downstream_gene_variant,,ENST00000295981,NM_153461.3;IL17RC,downstream_gene_variant,,ENST00000383812,NM_032732.5;IL17RC,downstream_gene_variant,,ENST00000403601,NM_153460.3;IL17RC,downstream_gene_variant,,ENST00000413608,NM_001203263.1;IL17RC,downstream_gene_variant,,ENST00000416074,NM_001203264.1;IL17RC,downstream_gene_variant,,ENST00000436503,;IL17RC,downstream_gene_variant,,ENST00000455057,NM_001203265.1;AC018809.1,upstream_gene_variant,,ENST00000602411,;IL17RC,downstream_gene_variant,,ENST00000498214,;CRELD1,missense_variant,p.His47Gln,ENST00000414117,;CRELD1,non_coding_transcript_exon_variant,,ENST00000465716,;CRELD1,non_coding_transcript_exon_variant,,ENST00000491527,;IL17RC,downstream_gene_variant,,ENST00000412901,;IL17RC,downstream_gene_variant,,ENST00000451231,;IL17RC,downstream_gene_variant,,ENST00000451271,;IL17RC,downstream_gene_variant,,ENST00000461995,;IL17RC,downstream_gene_variant,,ENST00000464406,;IL17RC,downstream_gene_variant,,ENST00000465794,;IL17RC,downstream_gene_variant,,ENST00000466046,;IL17RC,downstream_gene_variant,,ENST00000466712,;IL17RC,downstream_gene_variant,,ENST00000483582,;IL17RC,downstream_gene_variant,,ENST00000494365,;IL17RC,downstream_gene_variant,,ENST00000497387,; G ENSG00000163703 ENST00000326434 Transcript missense_variant 225/1994 141/1269 47/422 H/Q caT/caG 1 1 CRELD1 HGNC HGNC:14630 protein_coding YES CCDS33693.1 ENSP00000321856 Q96HD1 UPI000049DF8B NM_001031717.3 tolerated(0.94) benign(0.033) 2/12 hmmpanther:PTHR44098,hmmpanther:PTHR44098:SF2,Gene3D:2.170.300.10,Pfam_domain:PF11938 MODERATE 1 SNV 1 1 PASS ATA . . 9934579 ZBTB47 . GRCh38 chr3 42659531 42659531 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1176A>C p.Glu392Asp p.E392D ENST00000232974 2/6 97 75 12 43 43 0 ZBTB47,missense_variant,p.Glu392Asp,ENST00000232974,NM_145166.3;ZBTB47,intron_variant,,ENST00000505904,; C ENSG00000114853 ENST00000232974 Transcript missense_variant 1457/3781 1176/2244 392/747 E/D gaA/gaC 1 1 ZBTB47 HGNC HGNC:26955 protein_coding YES CCDS46805.2 ENSP00000232974 Q9UFB7 UPI0001BB2D41 NM_145166.3 tolerated(0.08) benign(0.201) 2/6 Gene3D:3.30.160.60,hmmpanther:PTHR44211,hmmpanther:PTHR44211:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AAC . . 42659531 CSPG5 . GRCh38 chr3 47578638 47578638 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.56T>G p.Phe19Cys p.F19C ENST00000383738 1/5 53 36 10 33 33 0 CSPG5,missense_variant,p.Phe19Cys,ENST00000383738,NM_001206943.1;CSPG5,missense_variant,p.Phe19Cys,ENST00000264723,NM_006574.3;CSPG5,missense_variant,p.Phe19Cys,ENST00000610462,NM_001206944.1;CSPG5,upstream_gene_variant,,ENST00000456150,NM_001206942.1,NM_001206945.1;CSPG5,intron_variant,,ENST00000465441,;,regulatory_region_variant,,ENSR00000152025,; C ENSG00000114646 ENST00000383738 Transcript missense_variant 2155/4161 56/1701 19/566 F/C tTt/tGt 1 -1 CSPG5 HGNC HGNC:2467 protein_coding YES CCDS56253.1 ENSP00000373244 O95196 UPI0000D61AFE NM_001206943.1 tolerated_low_confidence(0.08) benign(0.029) 1/5 hmmpanther:PTHR15381,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 47578638 DUSP7 . GRCh38 chr3 52056365 52056365 + Translation_Start_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.2T>G p.Met1? p.M1? ENST00000495880 1/3 46 34 10 34 33 0 DUSP7,start_lost,p.Met1?,ENST00000495880,NM_001947.3;DUSP7,upstream_gene_variant,,ENST00000469623,;,regulatory_region_variant,,ENSR00000152478,; C ENSG00000164086 ENST00000495880 Transcript start_lost 186/3340 2/1260 1/419 M/R aTg/aGg 1 -1 DUSP7 HGNC HGNC:3073 protein_coding YES CCDS33766.2 ENSP00000417183 Q16829 UPI0000185FA8 NM_001947.3 benign(0.001) 1/3 mobidb-lite HIGH 1 SNV 1 PASS CAT . . 52056365 ABTB1 . GRCh38 chr3 127677262 127677262 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.738T>G p.Asp246Glu p.D246E ENST00000232744 8/12 75 69 6 54 54 0 ABTB1,missense_variant,p.Asp104Glu,ENST00000468137,;ABTB1,missense_variant,p.Asp246Glu,ENST00000232744,NM_172027.2;ABTB1,missense_variant,p.Asp104Glu,ENST00000453791,NM_032548.3;PODXL2,downstream_gene_variant,,ENST00000342480,NM_015720.3;ABTB1,intron_variant,,ENST00000491633,;ABTB1,downstream_gene_variant,,ENST00000466612,;ABTB1,downstream_gene_variant,,ENST00000467179,;ABTB1,missense_variant,p.Asp29Glu,ENST00000497162,;ABTB1,3_prime_UTR_variant,,ENST00000475042,;ABTB1,non_coding_transcript_exon_variant,,ENST00000464431,;ABTB1,non_coding_transcript_exon_variant,,ENST00000478298,;ABTB1,non_coding_transcript_exon_variant,,ENST00000474129,;ABTB1,downstream_gene_variant,,ENST00000475265,;ABTB1,downstream_gene_variant,,ENST00000479280,;ABTB1,downstream_gene_variant,,ENST00000483857,;ABTB1,downstream_gene_variant,,ENST00000493365,; G ENSG00000114626 ENST00000232744 Transcript missense_variant 824/1965 738/1437 246/478 D/E gaT/gaG 1 1 ABTB1 HGNC HGNC:18275 protein_coding YES CCDS3045.1 ENSP00000232744 Q969K4 UPI0000035DA3 NM_172027.2 tolerated(0.33) benign(0.007) 8/12 hmmpanther:PTHR24413:SF83,hmmpanther:PTHR24413 MODERATE 1 SNV 1 PASS ATT . . 127677262 FOXL2 . GRCh38 chr3 138945788 138945788 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.935A>C p.His312Pro p.H312P ENST00000330315 1/1 81 60 12 58 56 2 FOXL2,missense_variant,p.His312Pro,ENST00000330315,NM_023067.3;FOXL2NB,upstream_gene_variant,,ENST00000383165,NM_001040061.2;LINC01391,upstream_gene_variant,,ENST00000477059,;LINC01391,upstream_gene_variant,,ENST00000483650,;LINC01391,upstream_gene_variant,,ENST00000495287,;FOXL2NB,upstream_gene_variant,,ENST00000470680,;FOXL2NB,upstream_gene_variant,,ENST00000498709,;,regulatory_region_variant,,ENSR00000159084,; G ENSG00000183770 ENST00000330315 Transcript missense_variant 1353/2917 935/1131 312/376 H/P cAc/cCc 1 -1 FOXL2 HGNC HGNC:1092 protein_coding YES CCDS3105.1 ENSP00000333188 P58012 Q53ZD3 UPI0000050DB3 NM_023067.3 deleterious_low_confidence(0.01) benign(0) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF319,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 1 PASS GTG . . 138945788 LINC01995 . GRCh38 chr3 182504075 182504075 + Splice_Region SNP G G A rs776382714 7316-475 BS_JGTBRH16 G G n.461+4C>T ENST00000489016 76 41 33 54 53 0 LINC01995,splice_region_variant,,ENST00000489016,; A ENSG00000244247 ENST00000489016 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs776382714 1 -1 LINC01995 HGNC HGNC:52828 lincRNA YES 3/3 LOW 1 SNV 3 PASS CGC . . 182504075 CHRD . GRCh38 chr3 184380416 184380416 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.98T>G p.Val33Gly p.V33G ENST00000204604 1/23 63 48 8 42 42 0 CHRD,missense_variant,p.Val33Gly,ENST00000204604,NM_003741.3,NM_001304474.1,NM_001304473.1;CHRD,missense_variant,p.Val33Gly,ENST00000450923,NM_001304472.1;CHRD,missense_variant,p.Val33Gly,ENST00000348986,;THPO,intron_variant,,ENST00000645603,;THPO,upstream_gene_variant,,ENST00000204615,;THPO,upstream_gene_variant,,ENST00000421442,NM_001289997.1,NM_001290027.1;THPO,upstream_gene_variant,,ENST00000445696,NM_001177598.2,NM_001290026.1,NM_001177597.2,NM_001290022.1;THPO,upstream_gene_variant,,ENST00000647395,NM_001289998.1,NM_000460.3,NM_001290003.1,NM_001290028.1;CHRD,upstream_gene_variant,,ENST00000482805,;CHRD,missense_variant,p.Val33Gly,ENST00000448472,;CHRD,missense_variant,p.Val33Gly,ENST00000420973,;CHRD,missense_variant,p.Val33Gly,ENST00000356534,;CHRD,non_coding_transcript_exon_variant,,ENST00000460627,;CHRD,non_coding_transcript_exon_variant,,ENST00000470150,;CHRD,non_coding_transcript_exon_variant,,ENST00000496527,;CHRD,upstream_gene_variant,,ENST00000459711,;CHRD,upstream_gene_variant,,ENST00000461120,;CHRD,upstream_gene_variant,,ENST00000461684,;CHRD,upstream_gene_variant,,ENST00000464833,;CHRD,upstream_gene_variant,,ENST00000482014,;CHRD,upstream_gene_variant,,ENST00000485883,;CHRD,upstream_gene_variant,,ENST00000486066,;,regulatory_region_variant,,ENSR00000162921,; G ENSG00000090539 ENST00000204604 Transcript missense_variant 344/3521 98/2868 33/955 V/G gTg/gGg 1 1 CHRD HGNC HGNC:1949 protein_coding YES CCDS3266.1 ENSP00000204604 Q9H2X0 UPI000013C64D NM_003741.3,NM_001304474.1,NM_001304473.1 tolerated(0.14) benign(0) 1/23 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF285,PIRSF_domain:PIRSF002496 MODERATE 1 SNV 1 PASS GTG . . 184380416 MUC4 . GRCh38 chr3 195779383 195779383 + Missense_Mutation SNP T T G rs545076894 7316-475 BS_JGTBRH16 T T c.12197A>C p.His4066Pro p.H4066P ENST00000463781 2/25 45 34 8 36 35 0 MUC4,missense_variant,p.His4066Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His4066Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His4066Pro,ENST00000478156,;MUC4,missense_variant,p.His4066Pro,ENST00000466475,;MUC4,missense_variant,p.His4066Pro,ENST00000477756,;MUC4,missense_variant,p.His4066Pro,ENST00000477086,;MUC4,missense_variant,p.His4066Pro,ENST00000480843,;MUC4,missense_variant,p.His4066Pro,ENST00000462323,;MUC4,missense_variant,p.His4066Pro,ENST00000470451,;MUC4,missense_variant,p.His4066Pro,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 12657/17110 12197/16239 4066/5412 H/P cAt/cCt rs545076894,COSM2944140 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.15) benign(0) 2/25 mobidb-lite,hmmpanther:PTHR42668 0.0052 0.0113 0.0029 0.002 0.005 0.002 0,1 MODERATE 1 SNV 5 0,1 1 PASS ATG . . 0.006531 0.02193 0.00548 0.003939 0.02784 0.0005066 0.007672 0.007921 0.003928 195779383 MUC4 . GRCh38 chr3 195785696 195785696 + Missense_Mutation SNP G G A rs150659095 7316-475 BS_JGTBRH16 G G c.5884C>T p.Pro1962Ser p.P1962S ENST00000463781 2/25 64 44 5 50 45 0 MUC4,missense_variant,p.Pro1962Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro1962Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro1962Ser,ENST00000478156,;MUC4,missense_variant,p.Pro1962Ser,ENST00000466475,;MUC4,missense_variant,p.Pro1962Ser,ENST00000477756,;MUC4,missense_variant,p.Pro1962Ser,ENST00000477086,;MUC4,missense_variant,p.Pro1962Ser,ENST00000480843,;MUC4,missense_variant,p.Pro1962Ser,ENST00000462323,;MUC4,missense_variant,p.Pro1962Ser,ENST00000470451,;MUC4,missense_variant,p.Pro1962Ser,ENST00000479406,;,regulatory_region_variant,,ENSR00000308218,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 6344/17110 5884/16239 1962/5412 P/S Ccc/Tcc rs150659095,COSM1042913 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.98) benign(0.05) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGT . . 0.01176 0.03785 0.01709 0.003627 0.03787 0.01088 0.00756 0.01447 0.01159 195785696 PIGX . GRCh38 chr3 196712555 196712555 + Missense_Mutation SNP T T G rs945342391 7316-475 BS_JGTBRH16 T T c.23T>G p.Val8Gly p.V8G ENST00000296333 1/7 100 89 9 52 52 0 PIGX,missense_variant,p.Val8Gly,ENST00000392391,NM_017861.3;PIGX,missense_variant,p.Val8Gly,ENST00000296333,NM_001166304.1;PIGX,missense_variant,p.Val8Gly,ENST00000639143,;PIGX,missense_variant,p.Val8Gly,ENST00000639474,;PIGX,intron_variant,,ENST00000426755,;CEP19,upstream_gene_variant,,ENST00000399942,;CEP19,upstream_gene_variant,,ENST00000409690,NM_032898.4;PIGX,upstream_gene_variant,,ENST00000421265,;PIGX,upstream_gene_variant,,ENST00000451319,;RNU6-646P,upstream_gene_variant,,ENST00000364571,;PIGX,upstream_gene_variant,,ENST00000495440,;PIGX,upstream_gene_variant,,ENST00000415832,;PIGX,upstream_gene_variant,,ENST00000453218,;PIGX,upstream_gene_variant,,ENST00000457284,;,regulatory_region_variant,,ENSR00000164453,; G ENSG00000163964 ENST00000296333 Transcript missense_variant 145/953 23/831 8/276 V/G gTt/gGt rs945342391 1 1 PIGX HGNC HGNC:26046 protein_coding YES CCDS54701.1 ENSP00000296333 H0Y2P9 UPI00015E0960 NM_001166304.1 tolerated_low_confidence(0.44) unknown(0) 1/7 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR28650 MODERATE SNV 2 PASS GTT . . 196712555 EVC . GRCh38 chr4 5711511 5711511 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.131T>G p.Leu44Arg p.L44R ENST00000264956 1/21 85 54 24 51 51 0 EVC,missense_variant,p.Leu44Arg,ENST00000264956,NM_153717.2,NM_001306090.1;EVC,missense_variant,p.Leu44Arg,ENST00000509451,NM_001306092.1;EVC2,upstream_gene_variant,,ENST00000310917,NM_001166136.1;EVC2,upstream_gene_variant,,ENST00000344408,NM_147127.4;EVC2,upstream_gene_variant,,ENST00000475313,;EVC2,upstream_gene_variant,,ENST00000509670,;,regulatory_region_variant,,ENSR00000165354,; G ENSG00000072840 ENST00000264956 Transcript missense_variant 315/6431 131/2979 44/992 L/R cTt/cGt 1 1 EVC HGNC HGNC:3497 protein_coding YES CCDS3383.1 ENSP00000264956 P57679 UPI000012A2A5 NM_153717.2,NM_001306090.1 tolerated(0.08) possibly_damaging(0.714) 1/21 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF13 MODERATE 1 SNV 1 1 PASS CTT . . 5711511 IGFBP7 . GRCh38 chr4 57110141 57110141 + Missense_Mutation SNP A A T novel 7316-475 BS_JGTBRH16 A A c.211T>A p.Cys71Ser p.C71S ENST00000295666 1/5 91 79 6 50 50 0 IGFBP7,missense_variant,p.Cys71Ser,ENST00000295666,NM_001553.2;IGFBP7,missense_variant,p.Cys71Ser,ENST00000514062,NM_001253835.1;IGFBP7-AS1,intron_variant,,ENST00000499667,;IGFBP7-AS1,intron_variant,,ENST00000508328,;,regulatory_region_variant,,ENSR00000168735,; T ENSG00000163453 ENST00000295666 Transcript missense_variant 245/1427 211/849 71/282 C/S Tgc/Agc 1 -1 IGFBP7 HGNC HGNC:5476 protein_coding YES CCDS3512.1 ENSP00000295666 Q16270 UPI00000422D2 NM_001553.2 deleterious(0.01) benign(0.324) 1/5 Low_complexity_(Seg):seg,PROSITE_profiles:PS51323,hmmpanther:PTHR14186:SF15,hmmpanther:PTHR14186,Pfam_domain:PF00219,PIRSF_domain:PIRSF018239,SMART_domains:SM00121,Superfamily_domains:SSF57184 MODERATE 1 SNV 1 1 PASS CAC . . 57110141 MAP3K1 . GRCh38 chr5 56815613 56815613 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.40T>G p.Phe14Val p.F14V ENST00000399503 1/20 65 53 10 69 68 1 MAP3K1,missense_variant,p.Phe14Val,ENST00000399503,NM_005921.1;,regulatory_region_variant,,ENSR00000180954,; G ENSG00000095015 ENST00000399503 Transcript missense_variant 40/7011 40/4539 14/1512 F/V Ttc/Gtc 1 1 MAP3K1 HGNC HGNC:6848 protein_coding YES CCDS43318.1 ENSP00000382423 Q13233 UPI000015153B NM_005921.1 tolerated_low_confidence(0.25) benign(0.018) 1/20 mobidb-lite MODERATE 1 SNV 1 1 PASS ATT . . 56815613 CHD1 . GRCh38 chr5 98928532 98928532 + Splice_Region SNP T T G novel 7316-475 BS_JGTBRH16 T T c.-149+7A>C ENST00000614616 73 54 7 58 58 0 CHD1,splice_region_variant,,ENST00000614616,;CHD1,upstream_gene_variant,,ENST00000284049,NM_001270.2;LINC02062,upstream_gene_variant,,ENST00000513175,;,regulatory_region_variant,,ENSR00000184549,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,PB0010.1,; G ENSG00000153922 ENST00000614616 Transcript splice_region_variant,intron_variant 1 -1 CHD1 HGNC HGNC:1915 protein_coding YES CCDS34204.1 ENSP00000483667 O14646 UPI000013DD75 1/35 LOW SNV 5 1 PASS TTT . . 98928532 AC008695.1 . GRCh38 chr5 131796841 131796841 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.81T>G p.Asp27Glu p.D27E ENST00000514667 1/29 65 54 9 37 37 0 AC008695.1,missense_variant,p.Asp27Glu,ENST00000514667,;FNIP1,missense_variant,p.Asp27Glu,ENST00000307968,NM_001008738.2;FNIP1,missense_variant,p.Asp27Glu,ENST00000307954,NM_001346114.1;FNIP1,missense_variant,p.Asp27Glu,ENST00000510461,NM_133372.2;FNIP1,missense_variant,p.Asp27Glu,ENST00000511848,NM_001346113.1;FNIP1,5_prime_UTR_variant,,ENST00000615660,;FNIP1,non_coding_transcript_exon_variant,,ENST00000623690,;AC005593.1,upstream_gene_variant,,ENST00000624894,;,regulatory_region_variant,,ENSR00000186768,; C ENSG00000273217 ENST00000514667 Transcript missense_variant 143/6393 81/4956 27/1651 D/E gaT/gaG 1 -1 AC008695.1 Clone_based_ensembl_gene protein_coding YES ENSP00000426948 E9PCH4 UPI0001D3B6D1 benign(0.005) 1/29 MODERATE SNV 2 PASS AAT . . 131796841 ADRA1B . GRCh38 chr5 159972268 159972268 + Missense_Mutation SNP T T G rs1336142226 7316-475 BS_JGTBRH16 T T c.1339T>G p.Trp447Gly p.W447G ENST00000306675 2/2 56 37 9 54 53 0 ADRA1B,missense_variant,p.Trp447Gly,ENST00000306675,NM_000679.3;,regulatory_region_variant,,ENSR00000189926,; G ENSG00000170214 ENST00000306675 Transcript missense_variant 1771/2047 1339/1563 447/520 W/G Tgg/Ggg rs1336142226 1 1 ADRA1B HGNC HGNC:278 protein_coding YES CCDS4347.1 ENSP00000306662 P35368 UPI000003B079 NM_000679.3 deleterious_low_confidence(0.02) benign(0) 2/2 Prints_domain:PR00556,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF17 MODERATE 1 SNV 1 PASS GTG . . 159972268 SLIT3 . GRCh38 chr5 169300709 169300709 + Translation_Start_Site SNP T T G novel 7316-475 BS_JGTBRH16 T T c.1A>C p.Met1? p.M1? ENST00000332966 1/36 84 73 9 60 59 0 SLIT3,start_lost,p.Met1?,ENST00000519560,NM_003062.3;SLIT3,start_lost,p.Met1?,ENST00000332966,NM_001271946.1;SLIT3,non_coding_transcript_exon_variant,,ENST00000521130,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,;,regulatory_region_variant,,ENSR00000190427,; G ENSG00000184347 ENST00000332966 Transcript start_lost 74/4895 1/4593 1/1530 M/L Atg/Ctg 1 -1 SLIT3 HGNC HGNC:11087 protein_coding YES CCDS64311.1 ENSP00000332164 O75094 UPI0001E8F75D NM_001271946.1 tolerated_low_confidence(0.58) benign(0.003) 1/36 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 169300709 ADAMTS2 . GRCh38 chr5 179345188 179345188 + Splice_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.139+2T>G p.X47_splice ENST00000251582 88 73 12 49 49 0 ADAMTS2,splice_donor_variant,,ENST00000251582,NM_014244.4;ADAMTS2,splice_donor_variant,,ENST00000274609,NM_021599.3;,regulatory_region_variant,,ENSR00000191542,; C ENSG00000087116 ENST00000251582 Transcript splice_donor_variant 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 1/21 HIGH 1 SNV 1 1 PASS TAC . . 179345188 BTNL9 . GRCh38 chr5 181053319 181053319 + Splice_Region SNP A A C novel 7316-475 BS_JGTBRH16 A A c.853+3A>C ENST00000327705 90 76 11 67 66 0 BTNL9,splice_region_variant,,ENST00000327705,NM_152547.4;BTNL9,splice_region_variant,,ENST00000376841,NM_001308245.1;BTNL9,splice_region_variant,,ENST00000515271,;BTNL9,splice_region_variant,,ENST00000511589,;BTNL9,splice_region_variant,,ENST00000491209,;BTNL9,splice_region_variant,,ENST00000509395,;BTNL9,splice_region_variant,,ENST00000511056,;BTNL9,upstream_gene_variant,,ENST00000506782,;BTNL9,upstream_gene_variant,,ENST00000512570,; C ENSG00000165810 ENST00000327705 Transcript splice_region_variant,intron_variant 1 1 BTNL9 HGNC HGNC:24176 protein_coding YES CCDS4460.2 ENSP00000330200 Q6UXG8 UPI000004C620 NM_152547.4 5/10 LOW 1 SNV 1 PASS TAC . . 181053319 SOX4 . GRCh38 chr6 21595031 21595031 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.497A>C p.His166Pro p.H166P ENST00000244745 1/1 72 53 12 51 51 0 SOX4,missense_variant,p.His166Pro,ENST00000244745,NM_003107.2;AL512380.2,intron_variant,,ENST00000637901,;,regulatory_region_variant,,ENSR00000194547,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0162.2,; C ENSG00000124766 ENST00000244745 Transcript missense_variant 2264/5852 497/1425 166/474 H/P cAt/cCt 1 1 SOX4 HGNC HGNC:11200 protein_coding YES CCDS4547.1 ENSP00000244745 Q06945 UPI0000047FA0 NM_003107.2 tolerated_low_confidence(0.27) benign(0) 1/1 Gene3D:1.10.30.10,PIRSF_domain:PIRSF038098,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF27,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS CAT . . 21595031 SRF . GRCh38 chr6 43171796 43171796 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.140A>C p.Asn47Thr p.N47T ENST00000265354 1/7 76 58 17 62 62 0 SRF,missense_variant,p.Asn47Thr,ENST00000265354,NM_001292001.1,NM_003131.3;,regulatory_region_variant,,ENSR00000197100,; C ENSG00000112658 ENST00000265354 Transcript missense_variant 498/4202 140/1527 47/508 N/T aAt/aCt 1 1 SRF HGNC HGNC:11291 protein_coding YES CCDS4889.1 ENSP00000265354 P11831 A0A024RD16 UPI0000135F3B NM_001292001.1,NM_003131.3 deleterious_low_confidence(0) benign(0.007) 1/7 mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 43171796 SLC16A10 . GRCh38 chr6 111087994 111087994 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.242A>C p.Asn81Thr p.N81T ENST00000368851 1/6 82 73 9 37 37 0 SLC16A10,missense_variant,p.Asn81Thr,ENST00000368851,NM_018593.4;SLC16A10,missense_variant,p.Asn81Thr,ENST00000612036,;RNU6-960P,downstream_gene_variant,,ENST00000364056,;,regulatory_region_variant,,ENSR00000201111,; C ENSG00000112394 ENST00000368851 Transcript missense_variant 417/2508 242/1548 81/515 N/T aAc/aCc 1 1 SLC16A10 HGNC HGNC:17027 protein_coding YES CCDS5089.1 ENSP00000357844 Q8TF71 UPI00000497DB NM_018593.4 deleterious(0.02) probably_damaging(0.979) 1/6 Gene3D:1.20.1250.20,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF119,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix,cd06174 MODERATE 1 SNV 1 PASS AAC . . 111087994 VGLL2 . GRCh38 chr6 117270774 117270774 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.623A>C p.Tyr208Ser p.Y208S ENST00000326274 3/4 73 56 14 61 59 1 VGLL2,missense_variant,p.Tyr208Ser,ENST00000326274,NM_182645.3;VGLL2,intron_variant,,ENST00000352536,NM_153453.1;,regulatory_region_variant,,ENSR00000201716,; C ENSG00000170162 ENST00000326274 Transcript missense_variant 813/2212 623/954 208/317 Y/S tAc/tCc 1 1 VGLL2 HGNC HGNC:20232 protein_coding YES CCDS5115.1 ENSP00000320957 Q8N8G2 UPI000006FF57 NM_182645.3 deleterious(0) probably_damaging(0.987) 3/4 hmmpanther:PTHR15950,hmmpanther:PTHR15950:SF17,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAC . . 117270774 VGLL2 . GRCh38 chr6 117270966 117270966 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.815A>C p.Lys272Thr p.K272T ENST00000326274 3/4 64 57 6 57 57 0 VGLL2,missense_variant,p.Lys272Thr,ENST00000326274,NM_182645.3;VGLL2,intron_variant,,ENST00000352536,NM_153453.1;,regulatory_region_variant,,ENSR00000201716,; C ENSG00000170162 ENST00000326274 Transcript missense_variant 1005/2212 815/954 272/317 K/T aAa/aCa 1 1 VGLL2 HGNC HGNC:20232 protein_coding YES CCDS5115.1 ENSP00000320957 Q8N8G2 UPI000006FF57 NM_182645.3 tolerated(0.19) possibly_damaging(0.81) 3/4 hmmpanther:PTHR15950,hmmpanther:PTHR15950:SF17,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 117270966 SOGA3 . GRCh38 chr6 127515684 127515684 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.931A>C p.Met311Leu p.M311L ENST00000525778 2/7 73 61 8 54 54 0 SOGA3,missense_variant,p.Met311Leu,ENST00000525778,NM_001012279.2;SOGA3,missense_variant,p.Met311Leu,ENST00000465909,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;AL096711.2,missense_variant,p.Met311Leu,ENST00000481848,;,regulatory_region_variant,,ENSR00000202443,; G ENSG00000214338 ENST00000525778 Transcript missense_variant 1677/4077 931/2844 311/947 M/L Atg/Ctg 1 -1 SOGA3 HGNC HGNC:21494 protein_coding YES CCDS43505.1 ENSP00000434570 Q5TF21 UPI0000419273 NM_001012279.2 tolerated_low_confidence(0.44) benign(0.01) 2/7 Gene3D:1.20.5.170,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATT . . 127515684 MYB . GRCh38 chr6 135181540 135181540 + Splice_Region SNP A A C novel 7316-475 BS_JGTBRH16 A A c.23+4A>C ENST00000341911 69 55 9 55 53 0 MYB,splice_region_variant,,ENST00000316528,;MYB,splice_region_variant,,ENST00000341911,NM_001130173.1;MYB,splice_region_variant,,ENST00000367814,NM_005375.3;MYB,splice_region_variant,,ENST00000420123,;MYB,splice_region_variant,,ENST00000442647,NM_001130172.1;MYB,splice_region_variant,,ENST00000525369,NM_001161657.1;MYB,splice_region_variant,,ENST00000527615,;MYB,splice_region_variant,,ENST00000528774,NM_001161656.1;MYB,splice_region_variant,,ENST00000533624,NM_001161660.1;MYB,splice_region_variant,,ENST00000534044,NM_001161659.1;MYB,splice_region_variant,,ENST00000534121,NM_001161658.1;MYB,splice_region_variant,,ENST00000616088,;MYB,splice_region_variant,,ENST00000618728,;MYB,upstream_gene_variant,,ENST00000430686,;MYB,upstream_gene_variant,,ENST00000531845,;MYB,splice_region_variant,,ENST00000339290,;MYB,splice_region_variant,,ENST00000367812,;MYB,splice_region_variant,,ENST00000438901,;MYB,splice_region_variant,,ENST00000463282,;MYB,splice_region_variant,,ENST00000524588,;MYB,splice_region_variant,,ENST00000525002,;MYB,splice_region_variant,,ENST00000525477,;MYB,splice_region_variant,,ENST00000525514,;MYB,splice_region_variant,,ENST00000525940,;MYB,splice_region_variant,,ENST00000526187,;MYB,splice_region_variant,,ENST00000526320,;MYB,splice_region_variant,,ENST00000526565,;MYB,splice_region_variant,,ENST00000526889,;MYB,splice_region_variant,,ENST00000528015,;MYB,splice_region_variant,,ENST00000528140,;MYB,splice_region_variant,,ENST00000528343,;MYB,splice_region_variant,,ENST00000528345,;MYB,splice_region_variant,,ENST00000529262,;MYB,splice_region_variant,,ENST00000529586,;MYB,splice_region_variant,,ENST00000531519,;MYB,splice_region_variant,,ENST00000531634,;MYB,splice_region_variant,,ENST00000531737,;MYB,splice_region_variant,,ENST00000533384,;MYB,splice_region_variant,,ENST00000533808,;MYB,splice_region_variant,,ENST00000533837,;,regulatory_region_variant,,ENSR00000203343,; C ENSG00000118513 ENST00000341911 Transcript splice_region_variant,intron_variant 1 1 MYB HGNC HGNC:7545 protein_coding YES CCDS47481.1 ENSP00000339992 P10242 UPI000002AE9A NM_001130173.1 1/15 LOW 1 SNV 1 1 PASS AAC . . 135181540 NHSL1 . GRCh38 chr6 138431527 138431527 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.2830T>G p.Phe944Val p.F944V ENST00000427025 5/7 67 52 12 63 62 0 NHSL1,missense_variant,p.Phe944Val,ENST00000427025,NM_020464.1;NHSL1,missense_variant,p.Phe940Val,ENST00000343505,NM_001144060.1;NHSL1,downstream_gene_variant,,ENST00000342260,;MIR3145,downstream_gene_variant,,ENST00000580727,;,regulatory_region_variant,,ENSR00000203755,; C ENSG00000135540 ENST00000427025 Transcript missense_variant 3459/7500 2830/4833 944/1610 F/V Ttc/Gtc 1 -1 NHSL1 HGNC HGNC:21021 protein_coding YES CCDS55063.1 ENSP00000394546 Q5SYE7 UPI0001750345 NM_020464.1 tolerated_low_confidence(0.55) benign(0.001) 5/7 hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AAT . . 138431527 MTHFD1L . GRCh38 chr6 150865872 150865872 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.50A>C p.Gln17Pro p.Q17P ENST00000611279 1/28 83 63 8 47 46 0 MTHFD1L,missense_variant,p.Gln17Pro,ENST00000367321,NM_015440.4;MTHFD1L,missense_variant,p.Gln17Pro,ENST00000611279,NM_001242767.1;MTHFD1L,missense_variant,p.Gln17Pro,ENST00000367307,NM_001242769.1,NM_001350488.1;MTHFD1L,upstream_gene_variant,,ENST00000367308,;MTHFD1L,upstream_gene_variant,,ENST00000423867,;MTHFD1L,upstream_gene_variant,,ENST00000618312,NM_001242768.1,NM_001350493.1,NM_001350486.1;MTHFD1L,upstream_gene_variant,,ENST00000441122,;,regulatory_region_variant,,ENSR00000205219,; C ENSG00000120254 ENST00000611279 Transcript missense_variant 194/3475 50/2940 17/979 Q/P cAg/cCg 1 1 MTHFD1L HGNC HGNC:21055 protein_coding YES CCDS75535.1 ENSP00000478253 B7ZM99 UPI000166C73D NM_001242767.1 tolerated_low_confidence(0.15) benign(0) 1/28 hmmpanther:PTHR43274,hmmpanther:PTHR43274:SF3,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CAG . . 150865872 PRR18 . GRCh38 chr6 166307545 166307545 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.598A>C p.Thr200Pro p.T200P ENST00000322583 1/1 79 62 10 57 55 1 PRR18,missense_variant,p.Thr200Pro,ENST00000322583,NM_175922.3;PRR18,downstream_gene_variant,,ENST00000529616,; G ENSG00000176381 ENST00000322583 Transcript missense_variant 839/3084 598/888 200/295 T/P Acc/Ccc 1 -1 PRR18 HGNC HGNC:28574 protein_coding YES CCDS5291.1 ENSP00000319590 Q8N4B5 UPI0000140E82 NM_175922.3 tolerated(0.16) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR10994:SF127,hmmpanther:PTHR10994,Pfam_domain:PF15671 MODERATE 1 SNV PASS GTG . . 166307545 IQCE . GRCh38 chr7 2559224 2559224 + Splice_Region SNP A A C novel 7316-475 BS_JGTBRH16 A A c.36+7A>C ENST00000476665 89 67 14 66 66 0 IQCE,splice_region_variant,,ENST00000402050,NM_152558.4;IQCE,splice_region_variant,,ENST00000404984,;IQCE,splice_region_variant,,ENST00000415271,;IQCE,splice_region_variant,,ENST00000438376,;IQCE,splice_region_variant,,ENST00000476665,NM_001287499.1;IQCE,splice_region_variant,,ENST00000611775,NM_001287500.1;IQCE,splice_region_variant,,ENST00000623361,NM_001287501.1,NM_001287502.1;IQCE,upstream_gene_variant,,ENST00000325979,;BRAT1,upstream_gene_variant,,ENST00000340611,NM_152743.3;IQCE,upstream_gene_variant,,ENST00000423395,;IQCE,splice_region_variant,,ENST00000325997,;IQCE,splice_region_variant,,ENST00000470731,;BRAT1,upstream_gene_variant,,ENST00000421712,;BRAT1,upstream_gene_variant,,ENST00000467558,;BRAT1,upstream_gene_variant,,ENST00000469750,;,regulatory_region_variant,,ENSR00000207793,; C ENSG00000106012 ENST00000476665 Transcript splice_region_variant,intron_variant 1 1 IQCE HGNC HGNC:29171 protein_coding YES CCDS75559.1 ENSP00000480715 A0A087WX45 UPI0000EE76A1 NM_001287499.1 1/20 LOW SNV 2 1 PASS AAC . . 2559224 CDK13 . GRCh38 chr7 39951161 39951161 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.520A>C p.Thr174Pro p.T174P ENST00000181839 1/14 91 74 14 60 58 2 CDK13,missense_variant,p.Thr174Pro,ENST00000181839,NM_003718.4;CDK13,missense_variant,p.Thr174Pro,ENST00000340829,NM_031267.3;CDK13,missense_variant,p.Thr49Pro,ENST00000643868,;CDK13,5_prime_UTR_variant,,ENST00000613626,;CDK13,upstream_gene_variant,,ENST00000611390,;CDK13,upstream_gene_variant,,ENST00000643859,;CDK13,upstream_gene_variant,,ENST00000646039,;AC072061.1,upstream_gene_variant,,ENST00000569710,;,regulatory_region_variant,,ENSR00000211251,; C ENSG00000065883 ENST00000181839 Transcript missense_variant 1516/10135 520/4539 174/1512 T/P Acg/Ccg 1 1 CDK13 HGNC HGNC:1733 protein_coding YES CCDS5461.1 ENSP00000181839 Q14004 A0A024RA85 UPI000013C5E3 NM_003718.4 tolerated_low_confidence(0.18) benign(0.021) 1/14 hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 39951161 COBL . GRCh38 chr7 51316590 51316590 + Splice_Region SNP T T G novel 7316-475 BS_JGTBRH16 T T c.41+3A>C ENST00000395542 78 62 13 57 56 0 COBL,splice_region_variant,,ENST00000265136,NM_015198.3;COBL,splice_region_variant,,ENST00000395540,NM_001346444.1;COBL,splice_region_variant,,ENST00000395542,NM_001287436.1;COBL,splice_region_variant,,ENST00000441453,NM_001287438.1;COBL,splice_region_variant,,ENST00000632460,;COBL,upstream_gene_variant,,ENST00000449281,;,regulatory_region_variant,,ENSR00000212522,; G ENSG00000106078 ENST00000395542 Transcript splice_region_variant,intron_variant 1 -1 COBL HGNC HGNC:22199 protein_coding YES CCDS75602.1 ENSP00000378912 O75128 UPI0001F992C3 NM_001287436.1 1/13 LOW 1 SNV 1 PASS TTA . . 51316590 PPP1R35 . GRCh38 chr7 100435903 100435903 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.396A>C p.Glu132Asp p.E132D ENST00000292330 2/4 96 67 22 49 49 0 PPP1R35,missense_variant,p.Glu132Asp,ENST00000292330,NM_145030.2;MEPCE,downstream_gene_variant,,ENST00000310512,NM_019606.5;MEPCE,downstream_gene_variant,,ENST00000414441,NM_001194991.1,NM_001194990.1,NM_001194992.1;AC092849.2,intron_variant,,ENST00000492523,;AC092849.1,upstream_gene_variant,,ENST00000475250,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000476185,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000487452,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000491407,;PPP1R35,non_coding_transcript_exon_variant,,ENST00000470295,;MEPCE,downstream_gene_variant,,ENST00000479201,;MEPCE,downstream_gene_variant,,ENST00000497759,;,regulatory_region_variant,,ENSR00000215791,; G ENSG00000160813 ENST00000292330 Transcript missense_variant 587/1031 396/762 132/253 E/D gaA/gaC 1 -1 PPP1R35 HGNC HGNC:28320 protein_coding YES CCDS5694.1 ENSP00000292330 Q8TAP8 UPI000006D9DB NM_145030.2 tolerated(0.1) probably_damaging(0.986) 2/4 hmmpanther:PTHR28625,Pfam_domain:PF15503 MODERATE 1 SNV 1 PASS GTT . . 100435903 VGF . GRCh38 chr7 101164018 101164018 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.826T>G p.Phe276Val p.F276V ENST00000249330 2/2 83 64 16 63 63 0 VGF,missense_variant,p.Phe276Val,ENST00000249330,NM_003378.3;VGF,missense_variant,p.Phe276Val,ENST00000445482,;VGF,missense_variant,p.Phe276Val,ENST00000611537,;AP1S1,downstream_gene_variant,,ENST00000337619,NM_001283.3;AP1S1,downstream_gene_variant,,ENST00000429457,;AP1S1,downstream_gene_variant,,ENST00000646560,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000643104,;AP1S1,downstream_gene_variant,,ENST00000443943,;AP1S1,downstream_gene_variant,,ENST00000646950,;,regulatory_region_variant,,ENSR00000215902,; C ENSG00000128564 ENST00000249330 Transcript missense_variant 1066/2575 826/1848 276/615 F/V Ttc/Gtc 1 -1 VGF HGNC HGNC:12684 protein_coding YES CCDS5712.1 ENSP00000249330 O15240 UPI000006FC7B NM_003378.3 deleterious_low_confidence(0) benign(0.085) 2/2 hmmpanther:PTHR15159 MODERATE 1 SNV 1 PASS AAC . . 101164018 CCDC71L . GRCh38 chr7 106660317 106660317 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.580A>C p.Ile194Leu p.I194L ENST00000523505 1/1 68 57 7 45 45 0 CCDC71L,missense_variant,p.Ile194Leu,ENST00000523505,NM_175884.4;CCDC71L,missense_variant,p.His178Pro,ENST00000315965,;AC004917.1,intron_variant,,ENST00000490856,;AC004917.1,intron_variant,,ENST00000592441,;,regulatory_region_variant,,ENSR00000216494,; G ENSG00000253276 ENST00000523505 Transcript missense_variant 680/4232 580/708 194/235 I/L Atc/Ctc 1 -1 CCDC71L HGNC HGNC:26685 protein_coding YES CCDS55151.1 ENSP00000430897 Q8N9Z2 UPI00003CF1DF NM_175884.4 deleterious_low_confidence(0.01) benign(0.091) 1/1 hmmpanther:PTHR14484,hmmpanther:PTHR14484:SF1 MODERATE 1 SNV PASS ATG . . 106660317 KLHDC10 . GRCh38 chr7 130070716 130070716 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.73A>C p.Ser25Arg p.S25R ENST00000335420 1/10 72 57 14 49 48 0 KLHDC10,missense_variant,p.Ser25Arg,ENST00000335420,NM_014997.3;KLHDC10,missense_variant,p.Ser25Arg,ENST00000463413,;KLHDC10,upstream_gene_variant,,ENST00000468226,;,regulatory_region_variant,,ENSR00000217941,; C ENSG00000128607 ENST00000335420 Transcript missense_variant 207/6437 73/1329 25/442 S/R Agc/Cgc 1 1 KLHDC10 HGNC HGNC:22194 protein_coding YES CCDS5815.1 ENSP00000334140 Q6PID8 UPI0000160705 NM_014997.3 deleterious_low_confidence(0.03) benign(0.072) 1/10 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF306,Gene3D:2.120.10.80 MODERATE 1 SNV 1 PASS TAG . . 130070716 KLF14 . GRCh38 chr7 130733960 130733960 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.74T>G p.Val25Gly p.V25G ENST00000583337 1/1 71 60 9 66 65 1 KLF14,missense_variant,p.Val25Gly,ENST00000583337,NM_138693.3;,regulatory_region_variant,,ENSR00000218022,; C ENSG00000266265 ENST00000583337 Transcript missense_variant 102/2827 74/972 25/323 V/G gTt/gGt 1 -1 KLF14 HGNC HGNC:23025 protein_coding YES CCDS5825.1 ENSP00000463287 Q8TD94 UPI000274712B NM_138693.3 deleterious(0) possibly_damaging(0.55) 1/1 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF21 MODERATE 1 SNV PASS AAC . . 130733960 ZNF703 . GRCh38 chr8 37696218 37696218 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.239T>G p.Ile80Ser p.I80S ENST00000331569 1/2 68 58 9 56 55 0 ZNF703,missense_variant,p.Ile80Ser,ENST00000331569,NM_025069.2;,regulatory_region_variant,,ENSR00000223555,; G ENSG00000183779 ENST00000331569 Transcript missense_variant 468/3349 239/1773 80/590 I/S aTt/aGt 1 1 ZNF703 HGNC HGNC:25883 protein_coding YES CCDS6094.1 ENSP00000332325 Q9H7S9 UPI0000073D30 NM_025069.2 deleterious(0) possibly_damaging(0.867) 1/2 hmmpanther:PTHR12522,hmmpanther:PTHR12522:SF2 MODERATE 1 SNV 1 PASS ATT . . 37696218 HEY1 . GRCh38 chr8 79765570 79765570 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.545T>G p.Ile182Ser p.I182S ENST00000337919 5/5 73 60 11 35 35 0 HEY1,missense_variant,p.Ile182Ser,ENST00000337919,NM_001040708.1;HEY1,missense_variant,p.Ile178Ser,ENST00000354724,NM_012258.3;HEY1,missense_variant,p.Ile88Ser,ENST00000523976,NM_001282851.1;HEY1,missense_variant,p.Ile140Ser,ENST00000518733,;AC036214.1,downstream_gene_variant,,ENST00000502766,;LINC01607,upstream_gene_variant,,ENST00000607172,;HEY1,non_coding_transcript_exon_variant,,ENST00000435063,;HEY1,downstream_gene_variant,,ENST00000519075,;HEY1,downstream_gene_variant,,ENST00000521111,;HEY1,downstream_gene_variant,,ENST00000523531,;,regulatory_region_variant,,ENSR00000226214,; C ENSG00000164683 ENST00000337919 Transcript missense_variant 739/2296 545/927 182/308 I/S aTt/aGt 1 -1 HEY1 HGNC HGNC:4880 protein_coding YES CCDS43749.1 ENSP00000338272 Q9Y5J3 UPI000014195F NM_001040708.1 tolerated(0.4) benign(0.015) 5/5 hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF78 MODERATE 1 SNV 1 1 PASS AAT . . 79765570 LAPTM4B . GRCh38 chr8 97775885 97775885 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.149A>C p.His50Pro p.H50P ENST00000445593 1/7 68 57 9 53 53 0 LAPTM4B,missense_variant,p.His50Pro,ENST00000445593,;LAPTM4B,missense_variant,p.His50Pro,ENST00000619747,NM_018407.4;LAPTM4B,5_prime_UTR_variant,,ENST00000521545,;LAPTM4B,5_prime_UTR_variant,,ENST00000517924,;RF00019,downstream_gene_variant,,ENST00000365529,;,regulatory_region_variant,,ENSR00000227577,; C ENSG00000104341 ENST00000445593 Transcript missense_variant 829/3173 149/954 50/317 H/P cAc/cCc 1 1 LAPTM4B HGNC HGNC:13646 protein_coding YES CCDS6275.1 ENSP00000402301 Q86VI4 UPI000018F5E2 tolerated_low_confidence(0.2) benign(0) 1/7 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS CAC . . 97775885 FAM205A . GRCh38 chr9 34726185 34726185 + Missense_Mutation SNP A A G rs521630 7316-475 BS_JGTBRH16 A A c.1055T>C p.Phe352Ser p.F352S ENST00000378788 4/4 50 38 11 33 33 0 FAM205A,missense_variant,p.Phe352Ser,ENST00000378788,NM_001141917.1; G ENSG00000205108 ENST00000378788 Transcript missense_variant 1095/4225 1055/4008 352/1335 F/S tTt/tCt rs521630,COSM4592890,COSM4592891 1 -1 FAM205A HGNC HGNC:41911 protein_coding YES CCDS55305.1 ENSP00000417711 Q6ZU69 UPI00017EE92B NM_001141917.1 tolerated(0.08) benign(0.098) 4/4 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF15 0.4760 0.3873 0.4035 0.5188 0.4612 0.6186 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS AAA . . 0.3664 0.3619 0.3508 0.4203 0.2643 0.3443 0.33 0.3537 0.5282 34726185 FAM205A . GRCh38 chr9 34726207 34726207 + Missense_Mutation SNP G G A rs521574 7316-475 BS_JGTBRH16 G G c.1033C>T p.Pro345Ser p.P345S ENST00000378788 4/4 47 35 11 35 34 1 FAM205A,missense_variant,p.Pro345Ser,ENST00000378788,NM_001141917.1; A ENSG00000205108 ENST00000378788 Transcript missense_variant 1073/4225 1033/4008 345/1335 P/S Cct/Tct rs521574,COSM3952674,COSM3952675 1 -1 FAM205A HGNC HGNC:41911 protein_coding YES CCDS55305.1 ENSP00000417711 Q6ZU69 UPI00017EE92B NM_001141917.1 tolerated(1) benign(0) 4/4 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF15 0.2388 0.0242 0.2032 0.4306 0.2525 0.3425 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GGA . . 0.1124 0.0167 0.1375 0.02625 0.3412 0.02257 0.1142 0.09207 0.1229 34726207 TLN1 . GRCh38 chr9 35710995 35710995 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.4107A>C p.Glu1369Asp p.E1369D ENST00000314888 31/57 71 58 11 45 44 0 TLN1,missense_variant,p.Glu1369Asp,ENST00000314888,NM_006289.3;MIR6852,upstream_gene_variant,,ENST00000621699,;TLN1,upstream_gene_variant,,ENST00000464379,;TLN1,upstream_gene_variant,,ENST00000495712,;TLN1,upstream_gene_variant,,ENST00000486788,; G ENSG00000137076 ENST00000314888 Transcript missense_variant 4461/8823 4107/7626 1369/2541 E/D gaA/gaC 1 -1 TLN1 HGNC HGNC:11845 protein_coding YES CCDS35009.1 ENSP00000316029 Q9Y490 UPI0000211375 NM_006289.3 tolerated(0.13) benign(0.109) 31/57 Low_complexity_(Seg):seg,Gene3D:1.20.1420.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981 MODERATE 1 SNV 1 PASS ATT . . 35710995 FOXD4L4 . GRCh38 chr9 65737474 65737474 + Missense_Mutation SNP C C G rs1353046191 7316-475 BS_JGTBRH16 C C c.329C>G p.Pro110Arg p.P110R ENST00000377413 1/1 83 68 14 41 40 0 FOXD4L4,missense_variant,p.Pro110Arg,ENST00000377413,NM_199244.3;CBWD5,downstream_gene_variant,,ENST00000377392,NM_001286835.1;CBWD5,downstream_gene_variant,,ENST00000377395,NM_001024916.3;CBWD5,downstream_gene_variant,,ENST00000382405,NM_001330668.1;CBWD5,downstream_gene_variant,,ENST00000429800,;CBWD5,downstream_gene_variant,,ENST00000430059,;CBWD5,downstream_gene_variant,,ENST00000489273,;CBWD5,downstream_gene_variant,,ENST00000468066,;CBWD5,downstream_gene_variant,,ENST00000476797,;CBWD5,downstream_gene_variant,,ENST00000486191,;CBWD5,downstream_gene_variant,,ENST00000377389,;CBWD5,downstream_gene_variant,,ENST00000461932,;CBWD5,downstream_gene_variant,,ENST00000463075,;CBWD5,downstream_gene_variant,,ENST00000480229,;CBWD5,downstream_gene_variant,,ENST00000480819,;CBWD5,downstream_gene_variant,,ENST00000485088,;CBWD5,downstream_gene_variant,,ENST00000486221,;CBWD5,downstream_gene_variant,,ENST00000491485,;CBWD5,downstream_gene_variant,,ENST00000497250,;,regulatory_region_variant,,ENSR00000235378,; G ENSG00000184659 ENST00000377413 Transcript missense_variant 920/2230 329/1251 110/416 P/R cCc/cGc rs1353046191 1 1 FOXD4L4 HGNC HGNC:23762 protein_coding YES CCDS75845.1 ENSP00000366630 Q8WXT5 UPI0000246F14 NM_199244.3 deleterious(0) probably_damaging(0.999) 1/1 cd00059,Gene3D:1.10.10.10,Pfam_domain:PF00250,SMART_domains:SM00339,Superfamily_domains:SSF46785,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF324,PROSITE_patterns:PS00657,Prints_domain:PR00053 MODERATE SNV PASS CCC . . 65737474 MEGF9 . GRCh38 chr9 120714240 120714240 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.119A>C p.Asn40Thr p.N40T ENST00000373930 1/6 76 62 12 56 56 0 MEGF9,missense_variant,p.Asn40Thr,ENST00000373930,NM_001080497.2;,regulatory_region_variant,,ENSR00000240796,; G ENSG00000106780 ENST00000373930 Transcript missense_variant 231/6298 119/1809 40/602 N/T aAt/aCt 1 -1 MEGF9 HGNC HGNC:3234 protein_coding YES CCDS48010.2 ENSP00000363040 Q9H1U4 UPI000045779F NM_001080497.2 deleterious_low_confidence(0) benign(0.221) 1/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF298 MODERATE 1 SNV 2 PASS ATT . . 120714240 UCK1 . GRCh38 chr9 131531098 131531098 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.77T>G p.Ile26Arg p.I26R ENST00000372211 1/7 94 70 16 56 56 0 UCK1,missense_variant,p.Ile26Arg,ENST00000372215,NM_001318519.1,NM_031432.3;UCK1,missense_variant,p.Ile26Arg,ENST00000372211,NM_001261451.2;UCK1,missense_variant,p.Ile26Arg,ENST00000372208,NM_001135954.2;UCK1,missense_variant,p.Ile26Arg,ENST00000372210,NM_001261450.2;UCK1,non_coding_transcript_exon_variant,,ENST00000459858,;UCK1,non_coding_transcript_exon_variant,,ENST00000494584,;UCK1,upstream_gene_variant,,ENST00000482398,;UCK1,upstream_gene_variant,,ENST00000484876,;UCK1,missense_variant,p.Ile26Arg,ENST00000491309,;,regulatory_region_variant,,ENSR00000242350,; C ENSG00000130717 ENST00000372211 Transcript missense_variant 103/2114 77/849 26/282 I/R aTa/aGa 1 -1 UCK1 HGNC HGNC:14859 protein_coding YES CCDS59152.1 ENSP00000361285 Q9HA47 UPI00004A2DB7 NM_001261451.2 deleterious(0) benign(0.33) 1/7 hmmpanther:PTHR10285:SF66,hmmpanther:PTHR10285 MODERATE 1 SNV 3 PASS TAT . . 131531098 PRRT1B . GRCh38 chr9 131554895 131554895 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.364T>G p.Phe122Val p.F122V ENST00000636672 2/4 94 71 12 45 44 0 PRRT1B,missense_variant,p.Phe122Val,ENST00000636672,;,regulatory_region_variant,,ENSR00000337992,; G ENSG00000283526 ENST00000636672 Transcript missense_variant 466/1312 364/792 122/263 F/V Ttc/Gtc 1 1 PRRT1B HGNC HGNC:53642 protein_coding YES ENSP00000490857 A0A1B0GWB2 UPI0007E52AFB deleterious(0.02) possibly_damaging(0.773) 2/4 hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF18,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTT . . 131554895 OTUD1 . GRCh38 chr10 23439852 23439852 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.395T>G p.Val132Gly p.V132G ENST00000376495 1/1 67 53 11 49 48 0 OTUD1,missense_variant,p.Val132Gly,ENST00000376495,NM_001145373.2;,regulatory_region_variant,,ENSR00000025586,; G ENSG00000165312 ENST00000376495 Transcript missense_variant 395/2933 395/1446 132/481 V/G gTt/gGt 1 1 OTUD1 HGNC HGNC:27346 protein_coding YES CCDS44366.1 ENSP00000365678 Q5VV17 UPI0000458A32 NM_001145373.2 tolerated(0.22) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF15 MODERATE 1 SNV PASS GTT . . 23439852 GPR158 . GRCh38 chr10 25176139 25176139 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.719A>C p.Asn240Thr p.N240T ENST00000376351 1/11 94 78 15 52 52 0 GPR158,missense_variant,p.Asn240Thr,ENST00000376351,NM_020752.2;GPR158-AS1,non_coding_transcript_exon_variant,,ENST00000449643,;,regulatory_region_variant,,ENSR00000258603,; C ENSG00000151025 ENST00000376351 Transcript missense_variant 1078/6959 719/3648 240/1215 N/T aAt/aCt 1 1 GPR158 HGNC HGNC:23689 protein_coding YES CCDS31166.1 ENSP00000365529 Q5T848 UPI0000199875 NM_020752.2 tolerated(0.48) benign(0.005) 1/11 hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Gene3D:3.30.450.20 MODERATE 1 SNV 1 PASS AAT . . 25176139 NEUROG3 . GRCh38 chr10 69572910 69572910 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.134A>C p.Asn45Thr p.N45T ENST00000242462 2/2 70 51 12 38 38 0 NEUROG3,missense_variant,p.Asn45Thr,ENST00000242462,NM_020999.3;AL450311.2,upstream_gene_variant,,ENST00000428753,; G ENSG00000122859 ENST00000242462 Transcript missense_variant 164/1376 134/645 45/214 N/T aAc/aCc 1 -1 NEUROG3 HGNC HGNC:13806 protein_coding YES CCDS31212.1 ENSP00000242462 Q9Y4Z2 UPI000013CB00 NM_020999.3 tolerated(0.16) benign(0.006) 2/2 mobidb-lite,hmmpanther:PTHR19290:SF94,hmmpanther:PTHR19290 MODERATE 1 SNV 1 1 PASS GTT . . 69572910 ADAMTS14 . GRCh38 chr10 70672803 70672803 + Translation_Start_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1A>C p.Met1? p.M1? ENST00000373208 1/22 81 70 7 74 74 0 ADAMTS14,start_lost,p.Met1?,ENST00000373208,NM_139155.2;ADAMTS14,start_lost,p.Met1?,ENST00000373207,NM_080722.3;,regulatory_region_variant,,ENSR00000029453,;,TF_binding_site_variant,,MA0147.2,; C ENSG00000138316 ENST00000373208 Transcript start_lost 1/5269 1/3681 1/1226 M/L Atg/Ctg 1 1 ADAMTS14 HGNC HGNC:14899 protein_coding YES CCDS7307.1 ENSP00000362304 Q8WXS8 UPI000013E57B NM_139155.2 tolerated_low_confidence(0.1) possibly_damaging(0.456) 1/22 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 2 PASS CAT . . 70672803 FAM53B . GRCh38 chr10 124744010 124744010 + Splice_Region SNP T T G novel 7316-475 BS_JGTBRH16 T T c.-175+3A>C ENST00000337318 82 59 13 49 49 0 FAM53B,splice_region_variant,,ENST00000280780,;FAM53B,splice_region_variant,,ENST00000337318,NM_014661.3;FAM53B,upstream_gene_variant,,ENST00000392754,;AC068896.1,intron_variant,,ENST00000494792,;EEF1AKMT2,downstream_gene_variant,,ENST00000495711,;,regulatory_region_variant,,ENSR00000034848,; G ENSG00000189319 ENST00000337318 Transcript splice_region_variant,intron_variant 1 -1 FAM53B HGNC HGNC:28968 protein_coding YES CCDS7641.1 ENSP00000338532 Q14153 UPI000013DC3C NM_014661.3 1/4 LOW 1 SNV 1 PASS TTA . . 124744010 SPRN . GRCh38 chr10 133423391 133423391 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.291A>C p.Glu97Asp p.E97D ENST00000414069 2/2 65 51 11 37 36 0 SPRN,missense_variant,p.Glu97Asp,ENST00000414069,NM_001012508.3;MTG1,downstream_gene_variant,,ENST00000317502,NM_138384.2;MTG1,downstream_gene_variant,,ENST00000432508,;AL360181.3,downstream_gene_variant,,ENST00000468317,;MTG1,downstream_gene_variant,,ENST00000477902,;MTG1,downstream_gene_variant,,ENST00000460848,;MTG1,downstream_gene_variant,,ENST00000473735,;,regulatory_region_variant,,ENSR00000035555,; G ENSG00000203772 ENST00000414069 Transcript missense_variant 403/3128 291/456 97/151 E/D gaA/gaC 1 -1 SPRN HGNC HGNC:16871 protein_coding YES CCDS53589.1 ENSP00000433712 Q5BIV9 UPI0000251EE8 NM_001012508.3 deleterious(0.05) benign(0.018) 2/2 mobidb-lite,hmmpanther:PTHR28552,Pfam_domain:PF14999 MODERATE 1 SNV 1 PASS GTT . . 133423391 CDHR5 . GRCh38 chr11 618929 618929 + Missense_Mutation SNP T T C rs147960355 7316-475 BS_JGTBRH16 T T c.1630A>G p.Lys544Glu p.K544E ENST00000358353 14/16 85 64 10 39 37 0 CDHR5,missense_variant,p.Lys544Glu,ENST00000358353,;CDHR5,missense_variant,p.Lys544Glu,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; C ENSG00000099834 ENST00000358353 Transcript missense_variant 1953/3635 1630/2538 544/845 K/E Aag/Gag rs147960355 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(0.71) benign(0.003) 14/16 mobidb-lite,hmmpanther:PTHR45160 0.0002 0.001 MODERATE SNV 5 PASS TTT . . 4.075e-06 5.817e-05 618929 EPS8L2 . GRCh38 chr11 721171 721171 + Missense_Mutation SNP A A C rs747662675 7316-475 BS_JGTBRH16 A A c.665A>C p.Asn222Thr p.N222T ENST00000533256 9/22 73 61 11 69 68 0 EPS8L2,missense_variant,p.Asn222Thr,ENST00000533256,;EPS8L2,missense_variant,p.Asn238Thr,ENST00000614442,;EPS8L2,missense_variant,p.Asn222Thr,ENST00000318562,NM_022772.3;EPS8L2,missense_variant,p.Asn222Thr,ENST00000530636,;EPS8L2,missense_variant,p.Asn238Thr,ENST00000526198,;EPS8L2,downstream_gene_variant,,ENST00000524763,;EPS8L2,downstream_gene_variant,,ENST00000531348,;EPS8L2,downstream_gene_variant,,ENST00000533500,;EPS8L2,downstream_gene_variant,,ENST00000534755,;EPS8L2,upstream_gene_variant,,ENST00000610855,;AP006621.4,intron_variant,,ENST00000527021,;EPS8L2,missense_variant,p.Asn33Thr,ENST00000528770,;EPS8L2,missense_variant,p.Asn30Thr,ENST00000530452,;EPS8L2,3_prime_UTR_variant,,ENST00000526909,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000529346,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000524474,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000526651,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000531471,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000532545,;EPS8L2,downstream_gene_variant,,ENST00000527807,;EPS8L2,upstream_gene_variant,,ENST00000527832,;EPS8L2,downstream_gene_variant,,ENST00000530118,;EPS8L2,upstream_gene_variant,,ENST00000531393,;EPS8L2,upstream_gene_variant,,ENST00000533816,;EPS8L2,upstream_gene_variant,,ENST00000534679,;,regulatory_region_variant,,ENSR00000035679,; C ENSG00000177106 ENST00000533256 Transcript missense_variant 1040/3266 665/2148 222/715 N/T aAt/aCt rs747662675 1 1 EPS8L2 HGNC HGNC:21296 protein_coding YES CCDS31328.1 ENSP00000435585 Q9H6S3 UPI000006226C tolerated(0.07) benign(0.272) 9/22 hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF20,mobidb-lite MODERATE 1 SNV 5 1 PASS AAT . . 721171 OR8U1 . GRCh38 chr11 56375632 56375632 + Missense_Mutation SNP C C G rs74639624 7316-475 BS_JGTBRH16 C C c.9C>G p.His3Gln p.H3Q ENST00000302270 1/1 70 62 6 42 40 0 OR8U1,missense_variant,p.His3Gln,ENST00000302270,NM_001005204.1; G ENSG00000172199 ENST00000302270 Transcript missense_variant 9/930 9/930 3/309 H/Q caC/caG rs74639624,COSM4145828 1 1 OR8U1 HGNC HGNC:19611 protein_coding YES CCDS41647.1 ENSP00000304188 Q8NH10 UPI0000061EEF NM_001005204.1 tolerated(0.66) benign(0) 1/1 hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF360,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE 1 SNV 0,1 PASS ACA . . 6.737e-05 8.625e-05 0.0002921 5.25e-05 1.182e-05 0.0002293 4.157e-05 56375632 PTGDR2 . GRCh38 chr11 60852637 60852637 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.1086A>C p.Glu362Asp p.E362D ENST00000332539 2/2 58 45 11 54 54 0 PTGDR2,missense_variant,p.Glu362Asp,ENST00000332539,NM_004778.2;CCDC86,downstream_gene_variant,,ENST00000227520,NM_024098.3;CCDC86,downstream_gene_variant,,ENST00000545580,;AP000777.3,upstream_gene_variant,,ENST00000538705,;CCDC86,downstream_gene_variant,,ENST00000535217,;,regulatory_region_variant,,ENSR00000040152,; G ENSG00000183134 ENST00000332539 Transcript missense_variant 1198/2895 1086/1188 362/395 E/D gaA/gaC 1 -1 PTGDR2 HGNC HGNC:4502 protein_coding YES CCDS7994.1 ENSP00000332812 Q9Y5Y4 UPI00001B011A NM_004778.2 tolerated_low_confidence(0.62) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR24229:SF8,hmmpanther:PTHR24229 MODERATE 1 SNV 1 PASS GTT . . 60852637 AHNAK . GRCh38 chr11 62526332 62526332 + Missense_Mutation SNP G G T rs1184905338 7316-475 BS_JGTBRH16 G G c.8085C>A p.Phe2695Leu p.F2695L ENST00000378024 5/5 69 61 7 47 46 0 AHNAK,missense_variant,p.Phe2695Leu,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 8360/18787 8085/17673 2695/5890 F/L ttC/ttA rs1184905338 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.11) probably_damaging(0.981) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,mobidb-lite MODERATE 1 SNV 2 PASS TGA . . 62526332 AHNAK . GRCh38 chr11 62528077 62528077 + Missense_Mutation SNP C C T rs1298288 7316-475 BS_JGTBRH16 C C c.6340G>A p.Ala2114Thr p.A2114T ENST00000378024 5/5 63 52 6 41 41 0 AHNAK,missense_variant,p.Ala2114Thr,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 6615/18787 6340/17673 2114/5890 A/T Gcc/Acc rs1298288,COSM5018040,COSM1721142 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.35) benign(0.023) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GCC . . 4.078e-06 3.277e-05 62528077 SIPA1 . GRCh38 chr11 65646713 65646713 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.1679T>G p.Leu560Arg p.L560R ENST00000394224 8/16 93 72 15 30 30 0 SIPA1,missense_variant,p.Leu560Arg,ENST00000394224,NM_153253.29;SIPA1,missense_variant,p.Leu560Arg,ENST00000534313,NM_006747.3;SIPA1,intron_variant,,ENST00000527525,;MIR4489,upstream_gene_variant,,ENST00000578869,;SIPA1,upstream_gene_variant,,ENST00000528699,;SIPA1,upstream_gene_variant,,ENST00000529725,;SIPA1,downstream_gene_variant,,ENST00000530226,;SIPA1,upstream_gene_variant,,ENST00000531339,;SIPA1,downstream_gene_variant,,ENST00000534406,; G ENSG00000213445 ENST00000394224 Transcript missense_variant 1975/3628 1679/3129 560/1042 L/R cTg/cGg 1 1 SIPA1 HGNC HGNC:10885 protein_coding YES CCDS8108.1 ENSP00000377771 Q96FS4 UPI0000135D8A NM_153253.29 deleterious(0) probably_damaging(0.994) 8/16 hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF14 MODERATE 1 SNV 1 PASS CTG . . 65646713 FUT4 . GRCh38 chr11 94544388 94544388 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.255T>G p.His85Gln p.H85Q ENST00000358752 1/1 89 77 11 60 60 0 FUT4,missense_variant,p.His85Gln,ENST00000358752,NM_002033.3;AP000943.3,downstream_gene_variant,,ENST00000536540,;AP000943.3,downstream_gene_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,upstream_gene_variant,,ENST00000446230,;,regulatory_region_variant,,ENSR00000043469,; G ENSG00000196371 ENST00000358752 Transcript missense_variant 549/6059 255/1593 85/530 H/Q caT/caG 1 1 FUT4 HGNC HGNC:4015 protein_coding YES CCDS8301.1 ENSP00000351602 P22083 UPI000002CC7E NM_002033.3 tolerated_low_confidence(0.41) benign(0) 1/1 mobidb-lite MODERATE SNV PASS ATT . . 94544388 KMT2A . GRCh38 chr11 118436631 118436631 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.119T>G p.Leu40Arg p.L40R ENST00000534358 1/36 75 58 12 43 43 0 KMT2A,missense_variant,p.Leu40Arg,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Leu40Arg,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Leu40Arg,ENST00000531904,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000529852,;KMT2A,upstream_gene_variant,,ENST00000532204,;KMT2A,upstream_gene_variant,,ENST00000533790,;AP001267.2,upstream_gene_variant,,ENST00000532619,;,regulatory_region_variant,,ENSR00000045630,; G ENSG00000118058 ENST00000534358 Transcript missense_variant 142/16602 119/11919 40/3972 L/R cTt/cGt 1 1 KMT2A HGNC HGNC:7132 protein_coding YES CCDS55791.1 ENSP00000436786 Q03164 UPI0001E5E732 NM_001197104.1 tolerated_low_confidence(0.28) benign(0.047) 1/36 PIRSF_domain:PIRSF010354,mobidb-lite MODERATE 1 SNV 1 1 PASS CTT . . 118436631 TAS2R30 . GRCh38 chr12 11133310 11133310 + Missense_Mutation SNP G G C rs78329184 7316-475 BS_JGTBRH16 G G c.935C>G p.Thr312Arg p.T312R ENST00000539585 1/1 80 69 11 40 39 0 TAS2R30,missense_variant,p.Thr312Arg,ENST00000539585,NM_001097643.1;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541175,;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000256188 ENST00000539585 Transcript missense_variant 1335/1687 935/960 312/319 T/R aCa/aGa rs78329184,COSM4146644 1 -1 TAS2R30 HGNC HGNC:19112 protein_coding YES CCDS53750.1 ENSP00000444736 P59541 UPI000006202F NM_001097643.1 tolerated_low_confidence(0.37) benign(0.074) 1/1 0,1 MODERATE SNV 0,1 PASS TGT . . 8.362e-05 0.0003905 0.0001011 4.594e-05 11133310 PRB4 . GRCh38 chr12 11308844 11308844 + Missense_Mutation SNP G G C rs79595466 7316-475 BS_JGTBRH16 G G c.139C>G p.Pro47Ala p.P47A ENST00000279575 3/4 74 58 6 48 45 0 PRB4,missense_variant,p.Pro47Ala,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Pro47Ala,ENST00000535904,;PRB4,missense_variant,p.Pro47Ala,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Pro47Ala,ENST00000445719,; C ENSG00000230657 ENST00000279575 Transcript missense_variant 176/916 139/744 47/247 P/A Ccc/Gcc rs79595466 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.59) benign(0.007) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GGC . . 2.514e-05 0.0001385 0.0001344 11308844 APOLD1 . GRCh38 chr12 12786912 12786912 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.100A>C p.Met34Leu p.M34L ENST00000326765 2/2 92 76 15 41 41 0 APOLD1,missense_variant,p.Met34Leu,ENST00000326765,NM_001130415.1;APOLD1,missense_variant,p.Met3Leu,ENST00000356591,NM_030817.2;APOLD1,intron_variant,,ENST00000534843,;APOLD1,intron_variant,,ENST00000540583,;APOLD1,intron_variant,,ENST00000588943,;,regulatory_region_variant,,ENSR00000048986,; C ENSG00000178878 ENST00000326765 Transcript missense_variant 170/4724 100/840 34/279 M/L Atg/Ctg 1 1 APOLD1 HGNC HGNC:25268 protein_coding YES CCDS44833.1 ENSP00000324277 Q96LR9 UPI0000D4A841 NM_001130415.1 deleterious(0.03) benign(0.011) 2/2 hmmpanther:PTHR14096:SF1,hmmpanther:PTHR14096 MODERATE 1 SNV 1 PASS AAT . . 12786912 SLC2A13 . GRCh38 chr12 40105671 40105671 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.138A>C p.Glu46Asp p.E46D ENST00000280871 1/10 82 68 9 53 51 0 SLC2A13,missense_variant,p.Glu46Asp,ENST00000280871,NM_052885.3;SLC2A13,missense_variant,p.Glu46Asp,ENST00000380858,;,regulatory_region_variant,,ENSR00000050827,; G ENSG00000151229 ENST00000280871 Transcript missense_variant 189/7003 138/1947 46/648 E/D gaA/gaC 1 -1 SLC2A13 HGNC HGNC:15956 protein_coding YES CCDS8736.2 ENSP00000280871 Q96QE2 UPI000066D913 NM_052885.3 tolerated_low_confidence(0.8) benign(0.05) 1/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATT . . 40105671 KMT2D . GRCh38 chr12 49041040 49041040 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.6730T>G p.Phe2244Val p.F2244V ENST00000301067 31/54 81 66 11 40 38 0 KMT2D,missense_variant,p.Phe2244Val,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,; C ENSG00000167548 ENST00000301067 Transcript missense_variant 6730/19419 6730/16614 2244/5537 F/V Ttc/Gtc 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 deleterious(0) possibly_damaging(0.815) 31/54 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,mobidb-lite MODERATE 1 SNV 5 1 PASS AAT . . 49041040 BCDIN3D . GRCh38 chr12 49842885 49842885 + Missense_Mutation SNP A A C rs191135776 7316-475 BS_JGTBRH16 A A c.203T>G p.Ile68Ser p.I68S ENST00000333924 1/2 82 73 9 56 56 0 BCDIN3D,missense_variant,p.Ile68Ser,ENST00000333924,NM_181708.2;BCDIN3D-AS1,downstream_gene_variant,,ENST00000548872,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000549124,;BCDIN3D,non_coding_transcript_exon_variant,,ENST00000550861,;,regulatory_region_variant,,ENSR00000051682,; C ENSG00000186666 ENST00000333924 Transcript missense_variant 245/3253 203/879 68/292 I/S aTt/aGt rs191135776 1 -1 BCDIN3D HGNC HGNC:27050 protein_coding YES CCDS8790.1 ENSP00000335201 Q7Z5W3 UPI0000160802 NM_181708.2 tolerated(0.06) benign(0.058) 1/2 Gene3D:3.40.50.150,PROSITE_profiles:PS51515,hmmpanther:PTHR12315,hmmpanther:PTHR12315:SF1,Superfamily_domains:SSF53335 0.0002 0.0008 MODERATE 1 SNV 1 PASS AAT . . 8.197e-06 0.000131 49842885 FAM186A . GRCh38 chr12 50352793 50352793 + Missense_Mutation SNP A A C 7316-475 BS_JGTBRH16 A A c.4039T>G p.Leu1347Val p.L1347V ENST00000327337 4/8 63 33 5 45 40 0 FAM186A,missense_variant,p.Leu1347Val,ENST00000543111,;FAM186A,missense_variant,p.Leu1347Val,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; C ENSG00000185958 ENST00000327337 Transcript missense_variant 4039/7127 4039/7056 1347/2351 L/V Ttg/Gtg COSM6305173 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.19) benign(0.399) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 1 MODERATE 1 SNV 5 1 PASS AAG . . 50352793 LRIG3 . GRCh38 chr12 58920199 58920199 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.37T>G p.Leu13Val p.L13V ENST00000320743 1/19 79 68 8 45 45 0 LRIG3,missense_variant,p.Leu13Val,ENST00000320743,NM_153377.4;LRIG3,upstream_gene_variant,,ENST00000379141,NM_001136051.2;AC068305.2,upstream_gene_variant,,ENST00000547590,;LRIG3,missense_variant,p.Leu13Val,ENST00000433272,;LRIG3,upstream_gene_variant,,ENST00000548968,;,regulatory_region_variant,,ENSR00000052826,; C ENSG00000139263 ENST00000320743 Transcript missense_variant 324/4070 37/3360 13/1119 L/V Ttg/Gtg 1 -1 LRIG3 HGNC HGNC:30991 protein_coding YES CCDS8960.1 ENSP00000326759 Q6UXM1 UPI0000035BB5 NM_153377.4 deleterious_low_confidence(0.04) benign(0.36) 1/19 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR44009,hmmpanther:PTHR44009:SF3 MODERATE 1 SNV 1 1 PASS AAC . . 58920199 SLC16A7 . GRCh38 chr12 59596243 59596243 + Splice_Region SNP A A C novel 7316-475 BS_JGTBRH16 A A c.-130+7A>C ENST00000547379 78 67 9 38 38 0 SLC16A7,splice_region_variant,,ENST00000547379,;SLC16A7,splice_region_variant,,ENST00000549465,;SLC16A7,splice_region_variant,,ENST00000552432,NM_001270623.1,NM_001270622.1;SLC16A7,upstream_gene_variant,,ENST00000552024,;,regulatory_region_variant,,ENSR00000052877,; C ENSG00000118596 ENST00000547379 Transcript splice_region_variant,intron_variant 1 1 SLC16A7 HGNC HGNC:10928 protein_coding CCDS8961.1 ENSP00000448071 O60669 A0A024RBB2 UPI00000722FD 1/5 LOW 1 SNV 1 PASS TAC . . 59596243 DLEU7 . GRCh38 chr13 50843627 50843627 + Nonsense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.20T>G p.Leu7Ter p.L7* ENST00000504404 1/2 93 76 16 65 65 0 DLEU7,stop_gained,p.Leu7Ter,ENST00000400393,NM_198989.3;DLEU7,stop_gained,p.Leu7Ter,ENST00000504404,NM_001306135.1;DLEU7-AS1,intron_variant,,ENST00000413510,;,regulatory_region_variant,,ENSR00000062939,; C ENSG00000186047 ENST00000504404 Transcript stop_gained 70/1122 20/666 7/221 L/* tTa/tGa 1 -1 DLEU7 HGNC HGNC:17567 protein_coding YES CCDS76635.1 ENSP00000427177 Q6UYE1 UPI0000225CA2 NM_001306135.1 1/2 hmmpanther:PTHR36961 HIGH 1 SNV 1 PASS TAA . . 50843627 FAM124A . GRCh38 chr13 51251602 51251602 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.343T>G p.Phe115Val p.F115V ENST00000280057 4/5 70 57 13 45 44 0 FAM124A,missense_variant,p.Phe79Val,ENST00000322475,NM_001242312.1;FAM124A,missense_variant,p.Phe79Val,ENST00000615498,NM_001330522.1;FAM124A,missense_variant,p.Phe115Val,ENST00000280057,NM_145019.3; G ENSG00000150510 ENST00000280057 Transcript missense_variant 474/2104 343/1749 115/582 F/V Ttc/Gtc 1 1 FAM124A HGNC HGNC:26413 protein_coding YES CCDS9427.1 ENSP00000280057 Q86V42 UPI0000140E33 NM_145019.3 deleterious(0) probably_damaging(0.982) 4/5 hmmpanther:PTHR14715:SF4,hmmpanther:PTHR14715,Pfam_domain:PF15067 MODERATE 1 SNV 2 PASS GTT . . 51251602 PCDH8 . GRCh38 chr13 52846089 52846089 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.2348A>C p.Lys783Thr p.K783T ENST00000377942 1/3 84 72 9 53 51 1 PCDH8,missense_variant,p.Lys783Thr,ENST00000377942,NM_002590.3;PCDH8,splice_region_variant,,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;,regulatory_region_variant,,ENSR00000063158,; G ENSG00000136099 ENST00000377942 Transcript missense_variant 2552/5088 2348/3213 783/1070 K/T aAa/aCa 1 -1 PCDH8 HGNC HGNC:8660 protein_coding YES CCDS9438.1 ENSP00000367177 O95206 UPI0000072D47 NM_002590.3 tolerated(0.31) benign(0.119) 1/3 hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46,mobidb-lite MODERATE 1 SNV 1 PASS TTT . . 52846089 DACH1 . GRCh38 chr13 71866498 71866498 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.272A>C p.Asn91Thr p.N91T ENST00000613252 1/11 66 51 11 47 47 0 DACH1,missense_variant,p.Asn91Thr,ENST00000613252,NM_080759.5;DACH1,missense_variant,p.Asn91Thr,ENST00000611519,NM_080760.5;DACH1,missense_variant,p.Asn91Thr,ENST00000620444,NM_004392.6;DACH1,missense_variant,p.Asn91Thr,ENST00000619232,;,regulatory_region_variant,,ENSR00000063548,; G ENSG00000276644 ENST00000613252 Transcript missense_variant 695/5233 272/2121 91/706 N/T aAc/aCc 1 -1 DACH1 HGNC HGNC:2663 protein_coding YES CCDS41899.1 ENSP00000482245 Q9UI36 UPI000007308B NM_080759.5 deleterious_low_confidence(0.03) benign(0.007) 1/11 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 71866498 SOX21 . GRCh38 chr13 94711652 94711652 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.398A>C p.Asn133Thr p.N133T ENST00000376945 1/1 61 45 7 52 52 0 SOX21,missense_variant,p.Asn133Thr,ENST00000376945,NM_007084.3;SOX21-AS1,upstream_gene_variant,,ENST00000438290,; G ENSG00000125285 ENST00000376945 Transcript missense_variant 748/2778 398/831 133/276 N/T aAt/aCt 1 -1 SOX21 HGNC HGNC:11197 protein_coding YES CCDS9473.1 ENSP00000366144 Q9Y651 UPI000003F547 NM_007084.3 tolerated(0.58) benign(0.021) 1/1 hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF285,Gene3D:1.10.30.10 MODERATE SNV 1 PASS ATT . . 94711652 ZIC5 . GRCh38 chr13 99971138 99971138 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.538A>C p.Thr180Pro p.T180P ENST00000267294 1/2 40 30 7 31 31 0 ZIC5,missense_variant,p.Thr180Pro,ENST00000267294,NM_033132.3;,regulatory_region_variant,,ENSR00000065144,; G ENSG00000139800 ENST00000267294 Transcript missense_variant 772/4639 538/1992 180/663 T/P Acc/Ccc 1 -1 ZIC5 HGNC HGNC:20322 protein_coding YES CCDS9494.2 ENSP00000267294 Q96T25 UPI0000458928 NM_033132.3 tolerated(0.09) benign(0.003) 1/2 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS GTG . . 99971138 ARGLU1 . GRCh38 chr13 106567726 106567726 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.194T>G p.Val65Gly p.V65G ENST00000400198 1/4 61 42 13 51 51 0 ARGLU1,missense_variant,p.Val65Gly,ENST00000400198,NM_018011.3;ARGLU1,upstream_gene_variant,,ENST00000360629,;,regulatory_region_variant,,ENSR00000065521,; C ENSG00000134884 ENST00000400198 Transcript missense_variant 439/3390 194/822 65/273 V/G gTg/gGg 1 -1 ARGLU1 HGNC HGNC:25482 protein_coding YES CCDS41906.1 ENSP00000383059 Q9NWB6 A0A024RDW4 UPI00000373ED NM_018011.3 tolerated(0.25) benign(0) 1/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR31711:SF1,hmmpanther:PTHR31711 MODERATE 1 SNV 1 PASS CAC . . 106567726 PPP1R3E . GRCh38 chr14 23301587 23301587 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.689T>G p.Ile230Ser p.I230S ENST00000452015 2/5 84 68 13 42 42 0 PPP1R3E,missense_variant,p.Ile230Ser,ENST00000452015,NM_001276318.1;BCL2L2,intron_variant,,ENST00000553824,;PPP1R3E,upstream_gene_variant,,ENST00000558058,;PPP1R3E,upstream_gene_variant,,ENST00000559314,;PPP1R3E,upstream_gene_variant,,ENST00000559942,;PPP1R3E,upstream_gene_variant,,ENST00000560913,;HOMEZ,upstream_gene_variant,,ENST00000561013,;PPP1R3E,upstream_gene_variant,,ENST00000561437,;PPP1R3E,upstream_gene_variant,,ENST00000560073,;PPP1R3E,upstream_gene_variant,,ENST00000561426,;PPP1R3E,upstream_gene_variant,,ENST00000561178,;,regulatory_region_variant,,ENSR00000066724,;,TF_binding_site_variant,,MA0531.1,; C ENSG00000235194 ENST00000452015 Transcript missense_variant 961/4773 689/840 230/279 I/S aTt/aGt 1 -1 PPP1R3E HGNC HGNC:14943 protein_coding YES CCDS61403.1 ENSP00000408288 Q9H7J1 UPI00001C1F69 NM_001276318.1 tolerated(0.38) benign(0) 2/5 PROSITE_profiles:PS51159,hmmpanther:PTHR12307:SF20,hmmpanther:PTHR12307,Pfam_domain:PF03370,Gene3D:2.60.40.10 MODERATE 1 SNV 2 PASS AAT . . 23301587 JPH4 . GRCh38 chr14 23576344 23576344 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.492T>G p.Asp164Glu p.D164E ENST00000397118 4/7 83 68 15 48 45 1 JPH4,missense_variant,p.Asp164Glu,ENST00000397118,NM_032452.2;JPH4,missense_variant,p.Asp164Glu,ENST00000356300,NM_001146028.1;JPH4,missense_variant,p.Asp165Glu,ENST00000622501,;JPH4,upstream_gene_variant,,ENST00000544177,;JPH4,non_coding_transcript_exon_variant,,ENST00000553505,; C ENSG00000092051 ENST00000397118 Transcript missense_variant 1395/4386 492/1887 164/628 D/E gaT/gaG 1 -1 JPH4 HGNC HGNC:20156 protein_coding YES CCDS9603.1 ENSP00000380307 Q96JJ6 UPI00001C1F68 NM_032452.2 tolerated(1) benign(0.135) 4/7 PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF14,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 23576344 AL136295.3 . GRCh38 chr14 24131562 24131562 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.583A>C p.Asn195Thr p.N195T ENST00000558325 4/4 69 54 9 56 52 1 AL136295.3,missense_variant,p.Asn195Thr,ENST00000558325,;FITM1,5_prime_UTR_variant,,ENST00000267426,NM_203402.2;PSME1,upstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;PSME1,upstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,upstream_gene_variant,,ENST00000559123,;FITM1,upstream_gene_variant,,ENST00000559294,;PSME1,upstream_gene_variant,,ENST00000561435,NM_001281528.1;PSME1,upstream_gene_variant,,ENST00000470718,;PSME1,upstream_gene_variant,,ENST00000561059,;PSME1,upstream_gene_variant,,ENST00000561142,;,regulatory_region_variant,,ENSR00000066829,; C ENSG00000259371 ENST00000558325 Transcript missense_variant 583/850 584/851 195/283 N/T aAc/aCc 1 1 AL136295.3 Clone_based_ensembl_gene protein_coding YES ENSP00000453089 H0YL77 UPI0004620A05 deleterious_low_confidence(0.01) benign(0.024) 4/4 MODERATE SNV 5 PASS AAC . . 24131562 RTN1 . GRCh38 chr14 59870605 59870605 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.26A>C p.Asp9Ala p.D9A ENST00000267484 1/9 71 58 8 75 75 0 RTN1,missense_variant,p.Asp9Ala,ENST00000267484,NM_021136.2;RTN1,intron_variant,,ENST00000611068,;,regulatory_region_variant,,ENSR00000069205,; G ENSG00000139970 ENST00000267484 Transcript missense_variant 362/3435 26/2331 9/776 D/A gAc/gCc 1 -1 RTN1 HGNC HGNC:10467 protein_coding YES CCDS9740.1 ENSP00000267484 Q16799 UPI00001352DA NM_021136.2 deleterious_low_confidence(0) benign(0) 1/9 mobidb-lite MODERATE 1 SNV 1 PASS GTC . . 59870605 CIPC . GRCh38 chr14 77098368 77098368 + Splice_Region SNP A A C novel 7316-475 BS_JGTBRH16 A A c.-53+7A>C ENST00000361786 76 62 10 65 65 0 CIPC,splice_region_variant,,ENST00000361786,NM_033426.2;CIPC,splice_region_variant,,ENST00000554658,;CIPC,splice_region_variant,,ENST00000555437,;CIPC,splice_region_variant,,ENST00000555611,;CIPC,5_prime_UTR_variant,,ENST00000557115,;CIPC,upstream_gene_variant,,ENST00000554447,;CIPC,upstream_gene_variant,,ENST00000555200,;CIPC,splice_region_variant,,ENST00000556863,;AC007375.2,splice_region_variant,,ENST00000557752,;,regulatory_region_variant,,ENSR00000071117,; C ENSG00000198894 ENST00000361786 Transcript splice_region_variant,intron_variant 1 1 CIPC HGNC HGNC:20365 protein_coding YES CCDS9855.1 ENSP00000355319 Q9C0C6 UPI0000073FD0 NM_033426.2 1/3 LOW 1 SNV 1 PASS AAA . . 77098368 ITPK1 . GRCh38 chr14 93115147 93115147 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.17A>C p.Lys6Thr p.K6T ENST00000267615 2/11 79 63 7 61 61 0 ITPK1,missense_variant,p.Lys6Thr,ENST00000267615,;ITPK1,missense_variant,p.Lys6Thr,ENST00000556603,NM_001142593.1,NM_014216.4;ITPK1,missense_variant,p.Lys6Thr,ENST00000354313,NM_001142594.1;ITPK1,missense_variant,p.Lys6Thr,ENST00000557309,;ITPK1,missense_variant,p.Lys6Thr,ENST00000555553,;ITPK1,missense_variant,p.Lys6Thr,ENST00000554999,;ITPK1,missense_variant,p.Lys6Thr,ENST00000553452,;ITPK1,5_prime_UTR_variant,,ENST00000555495,;,regulatory_region_variant,,ENSR00000275826,; G ENSG00000100605 ENST00000267615 Transcript missense_variant 191/6066 17/1245 6/414 K/T aAa/aCa 1 -1 ITPK1 HGNC HGNC:6177 protein_coding YES CCDS9907.1 ENSP00000267615 Q13572 A0A024R6H3 UPI000006F88A tolerated(0.09) possibly_damaging(0.585) 2/11 Pfam_domain:PF05770,hmmpanther:PTHR14217,hmmpanther:PTHR14217:SF1 MODERATE 1 SNV 1 PASS TTT . . 93115147 DEGS2 . GRCh38 chr14 100149056 100149056 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.737A>C p.Tyr246Ser p.Y246S ENST00000305631 2/3 118 107 10 47 47 0 DEGS2,missense_variant,p.Tyr246Ser,ENST00000305631,NM_206918.2;DEGS2,intron_variant,,ENST00000553834,;EVL,downstream_gene_variant,,ENST00000392920,NM_016337.2;EVL,downstream_gene_variant,,ENST00000402714,NM_001330221.1;EVL,downstream_gene_variant,,ENST00000554695,;DEGS2,non_coding_transcript_exon_variant,,ENST00000557117,;EVL,downstream_gene_variant,,ENST00000555606,;EVL,downstream_gene_variant,,ENST00000554045,;EVL,downstream_gene_variant,,ENST00000555848,; G ENSG00000168350 ENST00000305631 Transcript missense_variant 1313/4352 737/972 246/323 Y/S tAt/tCt 1 -1 DEGS2 HGNC HGNC:20113 protein_coding YES CCDS9956.1 ENSP00000307126 Q6QHC5 UPI000013EA78 NM_206918.2 deleterious(0) probably_damaging(0.999) 2/3 Pfam_domain:PF00487,PIRSF_domain:PIRSF017228,hmmpanther:PTHR12879,hmmpanther:PTHR12879:SF14,cd03508 MODERATE 1 SNV 1 PASS ATA . . 100149056 INAFM2 . GRCh38 chr15 40324384 40324384 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.329T>G p.Val110Gly p.V110G ENST00000638170 1/1 86 74 7 72 70 1 INAFM2,missense_variant,p.Val110Gly,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; G ENSG00000259330 ENST00000638170 Transcript missense_variant 721/3052 329/462 110/153 V/G gTt/gGt 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 tolerated_low_confidence(0.16) unknown(0) 1/1 mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GTT . . 40324384 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 90 52 19 61 58 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 CHST14 . GRCh38 chr15 40471251 40471251 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.38A>C p.Asn13Thr p.N13T ENST00000306243 1/1 68 48 11 38 35 0 CHST14,missense_variant,p.Asn13Thr,ENST00000306243,NM_130468.3;CHST14,missense_variant,p.Asn13Thr,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000416165,NM_014952.4;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000561234,NM_001301132.1;AC013356.2,upstream_gene_variant,,ENST00000559730,;,regulatory_region_variant,,ENSR00000075526,; C ENSG00000169105 ENST00000306243 Transcript missense_variant 254/3574 38/1131 13/376 N/T aAt/aCt 1 1 CHST14 HGNC HGNC:24464 protein_coding YES CCDS10059.1 ENSP00000307297 Q8NCH0 UPI000004616D NM_130468.3 tolerated_low_confidence(0.6) benign(0.006) 1/1 MODERATE SNV 1 PASS AAT . . 40471251 CAPN3 . GRCh38 chr15 42394299 42394299 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1073A>C p.Asn358Thr p.N358T ENST00000397163 8/24 62 52 8 44 42 1 CAPN3,missense_variant,p.Asn358Thr,ENST00000397163,NM_000070.2;CAPN3,missense_variant,p.Asn310Thr,ENST00000318023,;CAPN3,missense_variant,p.Asn310Thr,ENST00000349748,NM_173087.1;CAPN3,missense_variant,p.Asn358Thr,ENST00000357568,NM_024344.1;CAPN3,non_coding_transcript_exon_variant,,ENST00000638141,;AC012651.1,3_prime_UTR_variant,,ENST00000495723,;AC012651.1,3_prime_UTR_variant,,ENST00000466369,;AC012651.1,3_prime_UTR_variant,,ENST00000549793,;AC012651.1,3_prime_UTR_variant,,ENST00000483208,; C ENSG00000092529 ENST00000397163 Transcript missense_variant 1292/3228 1073/2466 358/821 N/T aAt/aCt 1 1 CAPN3 HGNC HGNC:1480 protein_coding YES CCDS45245.1 ENSP00000380349 P20807 UPI000000103F NM_000070.2 deleterious(0) probably_damaging(0.992) 8/24 cd00044,Gene3D:3.90.70.10,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF329,hmmpanther:PTHR10183 MODERATE 1 SNV 1 1 PASS AAT . . 42394299 ISL2 . GRCh38 chr15 76338517 76338517 + Splice_Region SNP A A C novel 7316-475 BS_JGTBRH16 A A c.511+3A>C ENST00000290759 100 85 9 56 56 0 ISL2,splice_region_variant,,ENST00000290759,NM_145805.2;AC027243.1,downstream_gene_variant,,ENST00000559539,;ISL2,intron_variant,,ENST00000558656,;ISL2,downstream_gene_variant,,ENST00000558437,; C ENSG00000159556 ENST00000290759 Transcript splice_region_variant,intron_variant 1 1 ISL2 HGNC HGNC:18524 protein_coding YES CCDS10290.1 ENSP00000290759 Q96A47 UPI000012D8FC NM_145805.2 3/5 LOW 1 SNV 1 PASS TAA . . 76338517 STARD5 . GRCh38 chr15 81324099 81324099 + Translation_Start_Site SNP T T G novel 7316-475 BS_JGTBRH16 T T c.1A>C p.Met1? p.M1? ENST00000302824 1/6 90 78 10 53 53 0 STARD5,start_lost,p.Met1?,ENST00000302824,NM_181900.2;TMC3-AS1,upstream_gene_variant,,ENST00000559781,;TMC3-AS1,upstream_gene_variant,,ENST00000560973,;STARD5,non_coding_transcript_exon_variant,,ENST00000559913,;STARD5,start_lost,p.Met1?,ENST00000325346,;STARD5,start_lost,p.Met1?,ENST00000560156,;STARD5,non_coding_transcript_exon_variant,,ENST00000560723,;,regulatory_region_variant,,ENSR00000080104,; G ENSG00000172345 ENST00000302824 Transcript start_lost 27/4871 1/642 1/213 M/L Atg/Ctg 1 -1 STARD5 HGNC HGNC:18065 protein_coding YES CCDS10318.1 ENSP00000304032 Q9NSY2 UPI0000136136 NM_181900.2 deleterious(0) possibly_damaging(0.746) 1/6 hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF44 HIGH 1 SNV 1 PASS ATT . . 81324099 RHBDL1 . GRCh38 chr16 677498 677498 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.728T>G p.Val243Gly p.V243G ENST00000352681 6/8 79 68 8 60 60 0 RHBDL1,missense_variant,p.Val308Gly,ENST00000219551,NM_001318733.1;RHBDL1,missense_variant,p.Val243Gly,ENST00000352681,NM_001278720.1;RHBDL1,missense_variant,p.Val168Gly,ENST00000561556,NM_001278721.1;STUB1,upstream_gene_variant,,ENST00000219548,NM_005861.3;RHOT2,downstream_gene_variant,,ENST00000315082,NM_138769.2,NM_001352281.1,NM_001352280.1,NM_001352275.1,NM_001352283.1;JMJD8,downstream_gene_variant,,ENST00000412368,NM_001005920.2,NM_001323918.1;STUB1,upstream_gene_variant,,ENST00000564316,;STUB1,upstream_gene_variant,,ENST00000564370,;STUB1,upstream_gene_variant,,ENST00000565677,NM_001293197.1;STUB1,upstream_gene_variant,,ENST00000566408,;STUB1,upstream_gene_variant,,ENST00000567173,;RHOT2,downstream_gene_variant,,ENST00000569197,;JMJD8,downstream_gene_variant,,ENST00000609261,;Z92544.1,downstream_gene_variant,,ENST00000567091,;Z92544.1,downstream_gene_variant,,ENST00000571933,;STUB1,upstream_gene_variant,,ENST00000566181,;Z92544.3,upstream_gene_variant,,ENST00000624747,;RHBDL1,non_coding_transcript_exon_variant,,ENST00000450775,;RHOT2,downstream_gene_variant,,ENST00000561711,;RHOT2,downstream_gene_variant,,ENST00000562957,;STUB1,upstream_gene_variant,,ENST00000563505,;RHOT2,downstream_gene_variant,,ENST00000564659,;RHOT2,downstream_gene_variant,,ENST00000565004,;JMJD8,downstream_gene_variant,,ENST00000565302,;STUB1,upstream_gene_variant,,ENST00000565813,;JMJD8,downstream_gene_variant,,ENST00000567120,;STUB1,upstream_gene_variant,,ENST00000567790,;JMJD8,downstream_gene_variant,,ENST00000568313,;RHOT2,downstream_gene_variant,,ENST00000568636,;JMJD8,downstream_gene_variant,,ENST00000568689,;STUB1,upstream_gene_variant,,ENST00000569248,;RHOT2,downstream_gene_variant,,ENST00000569358,;JMJD8,downstream_gene_variant,,ENST00000569441,;RHOT2,downstream_gene_variant,,ENST00000569675,;RHOT2,downstream_gene_variant,,ENST00000602564,; G ENSG00000103269 ENST00000352681 Transcript missense_variant 853/1463 728/1122 243/373 V/G gTg/gGg 1 1 RHBDL1 HGNC HGNC:10007 protein_coding YES CCDS61779.1 ENSP00000344206 O75783 UPI000002B26E NM_001278720.1 deleterious(0) possibly_damaging(0.833) 6/8 Gene3D:1.20.1540.10,Pfam_domain:PF01694,PIRSF_domain:PIRSF037470,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF7,Superfamily_domains:SSF144091,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS GTG . . 677498 CCDC154 . GRCh38 chr16 1438940 1438940 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.781A>C p.Met261Leu p.M261L ENST00000389176 8/17 84 70 11 39 39 0 CCDC154,missense_variant,p.Met116Leu,ENST00000409671,;CCDC154,missense_variant,p.Met261Leu,ENST00000389176,NM_001143980.1;AL032819.2,non_coding_transcript_exon_variant,,ENST00000624543,;CCDC154,upstream_gene_variant,,ENST00000463299,;CCDC154,upstream_gene_variant,,ENST00000483702,; G ENSG00000197599 ENST00000389176 Transcript missense_variant 948/2212 781/2025 261/674 M/L Atg/Ctg 1 -1 CCDC154 HGNC HGNC:34454 protein_coding YES ENSP00000373828 A6NI56 UPI000178DF39 NM_001143980.1 tolerated(0.27) benign(0.289) 8/17 hmmpanther:PTHR35153,Pfam_domain:PF15450 MODERATE 1 SNV 5 PASS ATT . . 1438940 KREMEN2 . GRCh38 chr16 2967440 2967440 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.1094T>G p.Ile365Ser p.I365S ENST00000303746 7/9 73 56 14 70 68 0 KREMEN2,missense_variant,p.Ile365Ser,ENST00000572045,;KREMEN2,missense_variant,p.Ile365Ser,ENST00000303746,NM_172229.2;KREMEN2,missense_variant,p.Ile365Ser,ENST00000575769,;KREMEN2,missense_variant,p.Ile365Ser,ENST00000319500,NM_024507.3;KREMEN2,missense_variant,p.Ile326Ser,ENST00000571007,NM_001253726.1;KREMEN2,missense_variant,p.Ile326Ser,ENST00000575885,NM_001253725.1;PAQR4,upstream_gene_variant,,ENST00000293978,NM_001284511.1;PAQR4,upstream_gene_variant,,ENST00000318782,NM_152341.4,NM_001324118.1;PKMYT1,downstream_gene_variant,,ENST00000431515,;PAQR4,upstream_gene_variant,,ENST00000572687,NM_001284512.1;PAQR4,upstream_gene_variant,,ENST00000574988,;PAQR4,upstream_gene_variant,,ENST00000576565,NM_001284513.1;PKMYT1,downstream_gene_variant,,ENST00000571102,;PKMYT1,downstream_gene_variant,,ENST00000572832,;PKMYT1,downstream_gene_variant,,ENST00000574333,; G ENSG00000131650 ENST00000303746 Transcript missense_variant 1671/2326 1094/1389 365/462 I/S aTt/aGt 1 1 KREMEN2 HGNC HGNC:18797 protein_coding YES CCDS10483.1 ENSP00000304422 Q8NCW0 UPI000006F428 NM_172229.2 tolerated(0.08) benign(0.021) 7/9 PIRSF_domain:PIRSF036961,hmmpanther:PTHR24269,hmmpanther:PTHR24269:SF15,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATT . . 2967440 FBRS . GRCh38 chr16 30659842 30659842 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.324A>C p.Glu108Asp p.E108D ENST00000356166 1/18 81 65 15 59 58 0 FBRS,missense_variant,p.Glu108Asp,ENST00000356166,NM_001105079.2;FBRS,upstream_gene_variant,,ENST00000287468,;PRR14,downstream_gene_variant,,ENST00000300835,NM_024031.3;PRR14,downstream_gene_variant,,ENST00000542965,NM_001320464.1;FBRS,upstream_gene_variant,,ENST00000482749,;PRR14,downstream_gene_variant,,ENST00000571654,;PRR14,downstream_gene_variant,,ENST00000287463,;FBRS,upstream_gene_variant,,ENST00000468966,;FBRS,upstream_gene_variant,,ENST00000484152,;FBRS,upstream_gene_variant,,ENST00000498588,;FBRS,upstream_gene_variant,,ENST00000543786,;PRR14,downstream_gene_variant,,ENST00000564946,;PRR14,downstream_gene_variant,,ENST00000565977,;PRR14,downstream_gene_variant,,ENST00000567322,;PRR14,downstream_gene_variant,,ENST00000567989,;,regulatory_region_variant,,ENSR00000085232,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; C ENSG00000156860 ENST00000356166 Transcript missense_variant 1412/5200 324/2943 108/980 E/D gaA/gaC 1 1 FBRS HGNC HGNC:20442 protein_coding YES CCDS45462.2 ENSP00000348489 J3KNZ9 UPI0000E59D83 NM_001105079.2 tolerated_low_confidence(0.17) unknown(0) 1/18 Low_complexity_(Seg):seg,mobidb-lite MODERATE SNV 5 PASS AAG . . 30659842 ZZEF1 . GRCh38 chr17 4142691 4142691 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.205T>G p.Cys69Gly p.C69G ENST00000381638 1/55 85 71 6 58 57 0 ZZEF1,missense_variant,p.Cys69Gly,ENST00000381638,NM_015113.3;CYB5D2,upstream_gene_variant,,ENST00000301391,NM_144611.3;CYB5D2,upstream_gene_variant,,ENST00000573984,;CYB5D2,upstream_gene_variant,,ENST00000575251,NM_001254755.1;CYB5D2,upstream_gene_variant,,ENST00000577075,NM_001254756.1;ZZEF1,non_coding_transcript_exon_variant,,ENST00000574474,;,regulatory_region_variant,,ENSR00000090423,; C ENSG00000074755 ENST00000381638 Transcript missense_variant 330/11456 205/8886 69/2961 C/G Tgc/Ggc 1 -1 ZZEF1 HGNC HGNC:29027 protein_coding YES CCDS11043.1 ENSP00000371051 O43149 UPI00004569F7 NM_015113.3 tolerated(0.21) benign(0.007) 1/55 hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF4 MODERATE 1 SNV 1 PASS CAG . . 4142691 ZZEF1 . GRCh38 chr17 4142747 4142747 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.149T>G p.Leu50Arg p.L50R ENST00000381638 1/55 84 73 9 56 55 1 ZZEF1,missense_variant,p.Leu50Arg,ENST00000381638,NM_015113.3;CYB5D2,upstream_gene_variant,,ENST00000301391,NM_144611.3;CYB5D2,upstream_gene_variant,,ENST00000573984,;CYB5D2,upstream_gene_variant,,ENST00000575251,NM_001254755.1;CYB5D2,upstream_gene_variant,,ENST00000577075,NM_001254756.1;ZZEF1,non_coding_transcript_exon_variant,,ENST00000574474,;,regulatory_region_variant,,ENSR00000090423,; C ENSG00000074755 ENST00000381638 Transcript missense_variant 274/11456 149/8886 50/2961 L/R cTg/cGg 1 -1 ZZEF1 HGNC HGNC:29027 protein_coding YES CCDS11043.1 ENSP00000371051 O43149 UPI00004569F7 NM_015113.3 deleterious(0) possibly_damaging(0.905) 1/55 hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF4,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 4142747 NLGN2 . GRCh38 chr17 7417725 7417725 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.2434T>G p.Phe812Val p.F812V ENST00000302926 7/7 42 30 10 22 22 0 NLGN2,missense_variant,p.Phe812Val,ENST00000302926,NM_020795.3;NLGN2,missense_variant,p.Phe812Val,ENST00000575301,;SPEM1,upstream_gene_variant,,ENST00000323675,NM_199339.2;NLGN2,downstream_gene_variant,,ENST00000570940,;AC113189.2,upstream_gene_variant,,ENST00000575310,; G ENSG00000169992 ENST00000302926 Transcript missense_variant 2507/4642 2434/2508 812/835 F/V Ttc/Gtc 1 1 NLGN2 HGNC HGNC:14290 protein_coding YES CCDS11103.1 ENSP00000305288 Q8NFZ4 UPI0000049FD2 NM_020795.3 deleterious_low_confidence(0) benign(0) 7/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR43903:SF3,hmmpanther:PTHR43903 MODERATE 1 SNV 1 PASS CTT . . 7417725 SPDYE4 . GRCh38 chr17 8758355 8758355 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.28T>G p.Phe10Val p.F10V ENST00000328794 1/6 43 30 8 40 38 0 SPDYE4,missense_variant,p.Phe10Val,ENST00000328794,NM_001128076.1;SPDYE4,upstream_gene_variant,,ENST00000580999,;SPDYE4,missense_variant,p.Phe10Val,ENST00000582989,; C ENSG00000183318 ENST00000328794 Transcript missense_variant 205/923 28/714 10/237 F/V Ttt/Gtt 1 -1 SPDYE4 HGNC HGNC:35463 protein_coding YES CCDS45609.1 ENSP00000329522 A6NLX3 UPI0000DD83CC NM_001128076.1 tolerated(0.53) benign(0.001) 1/6 mobidb-lite,hmmpanther:PTHR31156:SF20,hmmpanther:PTHR31156 MODERATE 1 SNV 1 PASS AAC . . 8758355 ULK2 . GRCh38 chr17 19867416 19867416 + Translation_Start_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.2T>G p.Met1? p.M1? ENST00000395544 1/27 77 62 11 48 47 0 ULK2,start_lost,p.Met1?,ENST00000395544,NM_014683.3;ULK2,start_lost,p.Met1?,ENST00000361658,NM_001142610.1;AC015726.2,upstream_gene_variant,,ENST00000620112,;ULK2,upstream_gene_variant,,ENST00000580118,;,regulatory_region_variant,,ENSR00000092291,; C ENSG00000083290 ENST00000395544 Transcript start_lost 502/6010 2/3111 1/1036 M/R aTg/aGg 1 -1 ULK2 HGNC HGNC:13480 protein_coding YES CCDS11213.1 ENSP00000378914 Q8IYT8 UPI000013D19B NM_014683.3 deleterious(0) probably_damaging(0.942) 1/27 hmmpanther:PTHR24348,hmmpanther:PTHR24348:SF18,PIRSF_domain:PIRSF000580 HIGH 1 SNV 1 PASS CAT . . 19867416 TLCD1 . GRCh38 chr17 28725931 28725931 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.167T>G p.Ile56Ser p.I56S ENST00000292090 1/4 70 56 14 61 59 1 TLCD1,missense_variant,p.Ile56Ser,ENST00000292090,NM_138463.3;NEK8,5_prime_UTR_variant,,ENST00000579060,;NEK8,5_prime_UTR_variant,,ENST00000579671,;TLCD1,intron_variant,,ENST00000394933,NM_001160407.1;TLCD1,intron_variant,,ENST00000580518,;NEK8,upstream_gene_variant,,ENST00000268766,NM_178170.2;RPL23A,downstream_gene_variant,,ENST00000355731,;RPL23A,downstream_gene_variant,,ENST00000394935,;RPL23A,downstream_gene_variant,,ENST00000394938,;RPL23A,downstream_gene_variant,,ENST00000422514,NM_000984.5;RPL23A,downstream_gene_variant,,ENST00000472628,;RPL23A,downstream_gene_variant,,ENST00000496182,;RPL23A,downstream_gene_variant,,ENST00000578181,;TLCD1,upstream_gene_variant,,ENST00000581236,;SNORD4B,downstream_gene_variant,,ENST00000459083,;SNORD4A,downstream_gene_variant,,ENST00000459174,;SNORD42A,downstream_gene_variant,,ENST00000459584,;AC010761.1,upstream_gene_variant,,ENST00000582718,;AC010761.6,upstream_gene_variant,,ENST00000587898,;NEK8,upstream_gene_variant,,ENST00000593261,;NEK8,non_coding_transcript_exon_variant,,ENST00000584342,;NEK8,upstream_gene_variant,,ENST00000543014,;RPL23A,downstream_gene_variant,,ENST00000580755,;NEK8,upstream_gene_variant,,ENST00000581000,;RPL23A,downstream_gene_variant,,ENST00000582736,;,regulatory_region_variant,,ENSR00000092758,; C ENSG00000160606 ENST00000292090 Transcript missense_variant 278/1017 167/744 56/247 I/S aTt/aGt 1 -1 TLCD1 HGNC HGNC:25177 protein_coding YES CCDS11242.1 ENSP00000292090 Q96CP7 UPI000006DF3D NM_138463.3 tolerated(0.05) possibly_damaging(0.76) 1/4 Pfam_domain:PF03798,PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF5,SMART_domains:SM00724,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 PASS AAT . . 28725931 LRRC37B . GRCh38 chr17 32030695 32030695 + Missense_Mutation SNP A A T rs471887 7316-475 BS_JGTBRH16 A A c.1863A>T p.Gln621His p.Q621H ENST00000341671 4/12 60 51 9 50 50 0 LRRC37B,missense_variant,p.Gln648His,ENST00000327564,;LRRC37B,missense_variant,p.Gln539His,ENST00000543378,NM_001321350.1;LRRC37B,missense_variant,p.Gln621His,ENST00000341671,;LRRC37B,missense_variant,p.Gln621His,ENST00000394713,NM_052888.2;LRRC37B,intron_variant,,ENST00000584368,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000580871,;LRRC37B,downstream_gene_variant,,ENST00000581786,;LRRC37B,missense_variant,p.Gln633His,ENST00000578674,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000583204,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000583758,;LRRC37B,intron_variant,,ENST00000582815,;LRRC37B,upstream_gene_variant,,ENST00000580303,; T ENSG00000185158 ENST00000341671 Transcript missense_variant 1868/3025 1863/2844 621/947 Q/H caA/caT rs471887 1 1 LRRC37B HGNC HGNC:29070 protein_coding YES CCDS32609.1 ENSP00000340519 Q96QE4 UPI000044D37B tolerated(0.16) benign(0) 4/12 Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR23045,hmmpanther:PTHR23045:SF8,SMART_domains:SM00369,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS AAA . . 0.00196 0.0004147 0.002757 0.001186 0.0005684 0.001914 0.002799 0.004757 32030695 ASIC2 . GRCh38 chr17 33292058 33292058 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.58T>G p.Phe20Val p.F20V ENST00000225823 1/10 71 53 12 57 56 0 ASIC2,missense_variant,p.Phe20Val,ENST00000225823,NM_183377.1;ASIC2,intron_variant,,ENST00000359872,NM_001094.4;ASIC2,upstream_gene_variant,,ENST00000448983,;ASIC2,upstream_gene_variant,,ENST00000579816,;,regulatory_region_variant,,ENSR00000093330,; C ENSG00000108684 ENST00000225823 Transcript missense_variant 931/3443 58/1692 20/563 F/V Ttc/Gtc 1 -1 ASIC2 HGNC HGNC:99 protein_coding YES CCDS11276.1 ENSP00000225823 Q16515 UPI000013C881 NM_183377.1 deleterious_low_confidence(0.01) benign(0) 1/10 MODERATE 1 SNV 1 PASS AAG . . 33292058 RFFL . GRCh38 chr17 35089103 35089103 + Splice_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.-9+2T>G ENST00000315249 62 46 9 60 59 1 RFFL,splice_donor_variant,,ENST00000315249,;RFFL,splice_donor_variant,,ENST00000447669,;RFFL,splice_donor_variant,,ENST00000584655,;AC004223.3,intron_variant,,ENST00000591723,;AC004223.3,intron_variant,,ENST00000592181,;AC004223.3,intron_variant,,ENST00000593039,;RAD51D,downstream_gene_variant,,ENST00000345365,NM_002878.3;RFFL,upstream_gene_variant,,ENST00000414419,;RNU6-840P,upstream_gene_variant,,ENST00000517275,;RFFL,splice_donor_variant,,ENST00000584541,;RFFL,splice_donor_variant,,ENST00000581265,;,regulatory_region_variant,,ENSR00000093443,;,TF_binding_site_variant,,PB0010.1,;,TF_binding_site_variant,,MA0162.2,; C ENSG00000092871 ENST00000315249 Transcript splice_donor_variant 1 -1 RFFL HGNC HGNC:24821 protein_coding YES CCDS11286.1 ENSP00000326170 Q8WZ73 UPI000006D6B9 1/6 HIGH 1 SNV 2 PASS CAC . . 35089103 SRCIN1 . GRCh38 chr17 38551205 38551205 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.2912A>C p.His971Pro p.H971P ENST00000617146 15/19 79 60 9 44 41 1 SRCIN1,missense_variant,p.His971Pro,ENST00000617146,NM_025248.2;SRCIN1,missense_variant,p.His1005Pro,ENST00000621492,;SRCIN1,missense_variant,p.His759Pro,ENST00000622190,;SRCIN1,upstream_gene_variant,,ENST00000613927,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000621763,;SRCIN1,upstream_gene_variant,,ENST00000621275,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000622519,;SRCIN1,downstream_gene_variant,,ENST00000612208,; G ENSG00000277363 ENST00000617146 Transcript missense_variant 3137/7058 2912/3552 971/1183 H/P cAc/cCc 1 -1 SRCIN1 HGNC HGNC:29506 protein_coding YES CCDS45660.1 ENSP00000484715 Q9C0H9 UPI0000E27F82 NM_025248.2 tolerated(0.28) benign(0.006) 15/19 hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF5,mobidb-lite MODERATE 1 SNV 1 PASS GTG . . 38551205 KCNH4 . GRCh38 chr17 42180873 42180873 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.73A>C p.Thr25Pro p.T25P ENST00000264661 1/17 64 55 8 61 59 1 KCNH4,missense_variant,p.Thr25Pro,ENST00000264661,NM_012285.2;KCNH4,missense_variant,p.Thr25Pro,ENST00000607371,;HCRT,downstream_gene_variant,,ENST00000293330,NM_001524.1;,regulatory_region_variant,,ENSR00000094347,; G ENSG00000089558 ENST00000264661 Transcript missense_variant 406/3920 73/3054 25/1017 T/P Acg/Ccg 1 -1 KCNH4 HGNC HGNC:6253 protein_coding YES CCDS11420.1 ENSP00000264661 Q9UQ05 UPI000012DCA8 NM_012285.2 deleterious(0.01) possibly_damaging(0.739) 1/17 Gene3D:3.30.450.20,PROSITE_profiles:PS50112,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF378 MODERATE 1 SNV 1 PASS GTT . . 42180873 BPTF . GRCh38 chr17 67826028 67826028 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.304A>C p.Thr102Pro p.T102P ENST00000306378 1/28 53 42 9 61 58 0 BPTF,missense_variant,p.Thr102Pro,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Thr102Pro,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Thr102Pro,ENST00000544778,;BPTF,upstream_gene_variant,,ENST00000335221,;BPTF,upstream_gene_variant,,ENST00000342579,;BPTF,upstream_gene_variant,,ENST00000424123,;BPTF,upstream_gene_variant,,ENST00000644067,;,regulatory_region_variant,,ENSR00000097434,;,TF_binding_site_variant,,PB0010.1,; C ENSG00000171634 ENST00000306378 Transcript missense_variant 364/9688 304/8763 102/2920 T/P Acg/Ccg 1 1 BPTF HGNC HGNC:3581 protein_coding YES CCDS11673.1 ENSP00000307208 Q12830 UPI00002263BF NM_182641.3 tolerated_low_confidence(0.21) probably_damaging(0.934) 1/28 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS GAC . . 67826028 AATK . GRCh38 chr17 81120475 81120475 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.3461T>G p.Leu1154Trp p.L1154W ENST00000326724 11/14 93 83 7 48 48 0 AATK,missense_variant,p.Leu1154Trp,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Leu1051Trp,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000575245,;MIR657,downstream_gene_variant,,ENST00000385003,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,intron_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,; C ENSG00000181409 ENST00000326724 Transcript missense_variant 3486/5257 3461/4125 1154/1374 L/W tTg/tGg 1 -1 AATK HGNC HGNC:21 protein_coding YES CCDS45807.1 ENSP00000324196 Q6ZMQ8 UPI000041EA63 NM_001080395.2 tolerated(0.19) benign(0.318) 11/14 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 PASS CAA . . 81120475 SMCHD1 . GRCh38 chr18 2656076 2656076 + Translation_Start_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1A>C p.Met1? p.M1? ENST00000320876 1/48 96 75 11 54 53 0 SMCHD1,start_lost,p.Met1?,ENST00000320876,NM_015295.2;AP005061.1,upstream_gene_variant,,ENST00000579647,;,regulatory_region_variant,,ENSR00000099936,;AP005061.1,upstream_gene_variant,,ENST00000583365,;,TF_binding_site_variant,,MA0095.2,; C ENSG00000101596 ENST00000320876 Transcript start_lost 339/8821 1/6018 1/2005 M/L Atg/Ctg 1 1 SMCHD1 HGNC HGNC:29090 protein_coding YES CCDS45822.1 ENSP00000326603 A6NHR9 UPI00001D7AAD NM_015295.2 deleterious_low_confidence(0) benign(0) 1/48 mobidb-lite HIGH SNV 5 1 PASS TAT . . 2656076 CDH2 . GRCh38 chr18 28177021 28177021 + Translation_Start_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.2T>G p.Met1? p.M1? ENST00000269141 1/16 88 65 12 59 57 0 CDH2,start_lost,p.Met1?,ENST00000269141,NM_001792.4;,regulatory_region_variant,,ENSR00000101862,; C ENSG00000170558 ENST00000269141 Transcript start_lost 426/4332 2/2721 1/906 M/R aTg/aGg 1 -1 CDH2 HGNC HGNC:1759 protein_coding YES CCDS11891.1 ENSP00000269141 P19022 A0A024RC42 UPI000013D7FD NM_001792.4 deleterious_low_confidence(0) benign(0.001) 1/16 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS CAT . . 28177021 ONECUT3 . GRCh38 chr19 1775437 1775437 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1477A>C p.Lys493Gln p.K493Q ENST00000382349 2/2 65 47 10 48 48 0 ONECUT3,missense_variant,p.Lys493Gln,ENST00000382349,NM_001080488.1;,regulatory_region_variant,,ENSR00000286999,; C ENSG00000205922 ENST00000382349 Transcript missense_variant 2767/8318 1477/1485 493/494 K/Q Aag/Cag 1 1 ONECUT3 HGNC HGNC:13399 protein_coding YES CCDS45900.1 ENSP00000371786 O60422 UPI000059D61D NM_001080488.1 deleterious_low_confidence(0) benign(0.425) 2/2 mobidb-lite,hmmpanther:PTHR14057,hmmpanther:PTHR14057:SF34 MODERATE 1 SNV 5 PASS CAA . . 1775437 EBI3 . GRCh38 chr19 4229607 4229607 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.57T>G p.Ser19Arg p.S19R ENST00000221847 1/5 76 66 8 50 48 1 EBI3,missense_variant,p.Ser19Arg,ENST00000221847,NM_005755.2;ANKRD24,downstream_gene_variant,,ENST00000318934,;ANKRD24,downstream_gene_variant,,ENST00000600132,NM_133475.1;EBI3,upstream_gene_variant,,ENST00000599339,;,regulatory_region_variant,,ENSR00000106176,; G ENSG00000105246 ENST00000221847 Transcript missense_variant 110/1186 57/690 19/229 S/R agT/agG 1 1 EBI3 HGNC HGNC:3129 protein_coding YES CCDS12123.1 ENSP00000221847 Q14213 UPI000000DB32 NM_005755.2 tolerated(0.46) benign(0) 1/5 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23036:SF113,hmmpanther:PTHR23036 MODERATE 1 SNV 1 PASS GTG . . 4229607 NRTN . GRCh38 chr19 5827872 5827872 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.293T>G p.Leu98Trp p.L98W ENST00000303212 2/2 76 64 11 43 43 0 NRTN,missense_variant,p.Leu98Trp,ENST00000303212,NM_004558.3;FUT6,downstream_gene_variant,,ENST00000286955,NM_001040701.1;FUT6,downstream_gene_variant,,ENST00000318336,NM_000150.2;FUT6,downstream_gene_variant,,ENST00000524754,;FUT6,downstream_gene_variant,,ENST00000527106,;FUT6,downstream_gene_variant,,ENST00000528505,;FUT6,downstream_gene_variant,,ENST00000529165,;FUT6,downstream_gene_variant,,ENST00000531085,;FUT6,downstream_gene_variant,,ENST00000531199,;FUT6,downstream_gene_variant,,ENST00000532464,;FUT6,downstream_gene_variant,,ENST00000592563,;,regulatory_region_variant,,ENSR00000106423,; G ENSG00000171119 ENST00000303212 Transcript missense_variant 657/1109 293/594 98/197 L/W tTg/tGg 1 1 NRTN HGNC HGNC:8007 protein_coding YES CCDS12151.1 ENSP00000302648 Q99748 UPI0000050F8C NM_004558.3 deleterious(0.02) benign(0.086) 2/2 PDB-ENSP_mappings:5mr4.A,PDB-ENSP_mappings:5mr4.B,PDB-ENSP_mappings:5mr5.A,PDB-ENSP_mappings:5mr5.B,PDB-ENSP_mappings:5mr9.A,PDB-ENSP_mappings:5mr9.B,Low_complexity_(Seg):seg,PROSITE_profiles:PS51362,hmmpanther:PTHR12173:SF3,hmmpanther:PTHR12173,Gene3D:2.10.90.10 MODERATE 1 SNV 1 1 PASS TTG . . 5827872 SLC25A23 . GRCh38 chr19 6459627 6459627 + Translation_Start_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.2T>G p.Met1? p.M1? ENST00000301454 1/10 77 64 7 47 46 0 SLC25A23,start_lost,p.Met1?,ENST00000301454,NM_024103.2;SLC25A23,start_lost,p.Met1?,ENST00000334510,;SLC25A23,intron_variant,,ENST00000597307,;CRB3,upstream_gene_variant,,ENST00000308243,;CRB3,upstream_gene_variant,,ENST00000356762,NM_174881.3;CRB3,upstream_gene_variant,,ENST00000598494,NM_174882.2;SLC25A23,upstream_gene_variant,,ENST00000598908,;CRB3,upstream_gene_variant,,ENST00000600229,NM_139161.4;SLC25A23,upstream_gene_variant,,ENST00000600682,;SLC25A23,start_lost,p.Met1?,ENST00000264088,;SLC25A23,non_coding_transcript_exon_variant,,ENST00000595267,;,regulatory_region_variant,,ENSR00000106519,;,TF_binding_site_variant,,PB0010.1,; C ENSG00000125648 ENST00000301454 Transcript start_lost 109/3425 2/1407 1/468 M/R aTg/aGg 1 -1 SLC25A23 HGNC HGNC:19375 protein_coding YES CCDS32882.1 ENSP00000301454 Q9BV35 UPI0000049FAD NM_024103.2 deleterious_low_confidence(0) benign(0.009) 1/10 HIGH 1 SNV 1 PASS CAT . . 6459627 PRR36 . GRCh38 chr19 7870999 7870999 + Missense_Mutation SNP A A G rs12974877 7316-475 BS_JGTBRH16 A A c.2245T>C p.Ser749Pro p.S749P ENST00000618550 5/6 36 25 6 36 33 0 PRR36,missense_variant,p.Ser749Pro,ENST00000618550,NM_001190467.1;PRR36,intron_variant,,ENST00000615988,;AC010336.3,intron_variant,,ENST00000597156,; G ENSG00000183248 ENST00000618550 Transcript missense_variant 2346/4456 2245/4041 749/1346 S/P Tct/Cct rs12974877,COSM6280753 1 -1 PRR36 HGNC HGNC:26172 protein_coding YES CCDS74276.1 ENSP00000482374 Q9H6K5 UPI0001DA930F NM_001190467.1 tolerated(0.26) unknown(0) 5/6 hmmpanther:PTHR22427,hmmpanther:PTHR22427,hmmpanther:PTHR22427:SF6,hmmpanther:PTHR22427:SF6,mobidb-lite 0,1 MODERATE SNV 5 0,1 PASS GAA . . 0.002412 0.0004452 0.007948 0.003567 0.0009007 0.01155 7870999 DNASE2 . GRCh38 chr19 12878540 12878540 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.551A>C p.Tyr184Ser p.Y184S ENST00000222219 5/6 62 55 6 41 41 0 DNASE2,missense_variant,p.Tyr184Ser,ENST00000222219,NM_001375.2;DNASE2,missense_variant,p.Tyr129Ser,ENST00000592506,;MAST1,downstream_gene_variant,,ENST00000251472,NM_014975.2;AC020934.2,upstream_gene_variant,,ENST00000592400,;DNASE2,non_coding_transcript_exon_variant,,ENST00000588777,;DNASE2,non_coding_transcript_exon_variant,,ENST00000586547,;MAST1,downstream_gene_variant,,ENST00000585791,;MAST1,downstream_gene_variant,,ENST00000590553,; G ENSG00000105612 ENST00000222219 Transcript missense_variant 644/1955 551/1083 184/360 Y/S tAc/tCc 1 -1 DNASE2 HGNC HGNC:2960 protein_coding YES CCDS12284.1 ENSP00000222219 O00115 A0A024R7F4 UPI000012988A NM_001375.2 tolerated(0.38) benign(0.017) 5/6 Pfam_domain:PF03265,hmmpanther:PTHR10858,hmmpanther:PTHR10858:SF9 MODERATE 1 SNV 1 PASS GTA . . 12878540 SAMD1 . GRCh38 chr19 14090372 14090372 + Missense_Mutation SNP T T G rs987964190 7316-475 BS_JGTBRH16 T T c.49A>C p.Thr17Pro p.T17P ENST00000533683 1/5 31 20 7 40 38 0 SAMD1,missense_variant,p.Thr17Pro,ENST00000533683,NM_138352.1;SAMD1,intron_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3,NM_001304349.1;C19orf67,upstream_gene_variant,,ENST00000343945,;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000587372,;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000350356,;SAMD1,downstream_gene_variant,,ENST00000541938,;C19orf67,upstream_gene_variant,,ENST00000547589,;PRKACA,downstream_gene_variant,,ENST00000588209,;,regulatory_region_variant,,ENSR00000107489,; G ENSG00000141858 ENST00000533683 Transcript missense_variant 337/2164 49/1299 17/432 T/P Acc/Ccc rs987964190 1 -1 SAMD1 HGNC HGNC:17958 protein_coding YES ENSP00000431971 E9PIW9 UPI0000366D4A NM_138352.1 benign(0.336) 1/5 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 14090372 ZNF676 . GRCh38 chr19 22180611 22180611 + Missense_Mutation SNP C C A 7316-475 BS_JGTBRH16 C C c.1106G>T p.Gly369Val p.G369V ENST00000397121 3/3 63 49 6 46 44 0 ZNF676,missense_variant,p.Gly369Val,ENST00000397121,NM_001001411.2; A ENSG00000196109 ENST00000397121 Transcript missense_variant 1424/2944 1106/1767 369/588 G/V gGa/gTa COSM6482756,COSM3756559 1 -1 ZNF676 HGNC HGNC:20429 protein_coding YES CCDS42539.1 ENSP00000380310 Q8N7Q3 UPI00002376EC NM_001001411.2 deleterious(0.03) possibly_damaging(0.505) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 2 1,1 PASS TCC . . 22180611 KMT2B . GRCh38 chr19 35733433 35733433 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.6884A>C p.Tyr2295Ser p.Y2295S ENST00000420124 28/37 59 41 10 37 34 0 KMT2B,missense_variant,p.Tyr2295Ser,ENST00000420124,NM_014727.2;KMT2B,non_coding_transcript_exon_variant,,ENST00000592092,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000586308,; C ENSG00000272333 ENST00000420124 Transcript missense_variant 6884/8469 6884/8148 2295/2715 Y/S tAc/tCc 1 1 KMT2B HGNC HGNC:15840 protein_coding YES CCDS46055.1 ENSP00000398837 Q9UMN6 UPI00001376B5 NM_014727.2 tolerated(0.41) benign(0) 28/37 PIRSF_domain:PIRSF010354,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF341,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS TAC . . 35733433 MAP4K1 . GRCh38 chr19 38606175 38606175 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.1198A>C p.Lys400Gln p.K400Q ENST00000591517 17/32 67 50 13 45 44 0 MAP4K1,missense_variant,p.Lys400Gln,ENST00000591517,NM_007181.5;MAP4K1,missense_variant,p.Lys396Gln,ENST00000589130,;MAP4K1,missense_variant,p.Lys400Gln,ENST00000396857,NM_001042600.2;MAP4K1,missense_variant,p.Lys104Gln,ENST00000591921,;MAP4K1,intron_variant,,ENST00000586296,;AC008649.1,downstream_gene_variant,,ENST00000589557,;MAP4K1,downstream_gene_variant,,ENST00000589002,;MAP4K1,splice_region_variant,,ENST00000585583,;MAP4K1,downstream_gene_variant,,ENST00000591707,;MAP4K1,downstream_gene_variant,,ENST00000592888,; G ENSG00000104814 ENST00000591517 Transcript missense_variant,splice_region_variant 1227/2700 1198/2502 400/833 K/Q Aag/Cag 1 -1 MAP4K1 HGNC HGNC:6863 protein_coding YES CCDS59385.1 ENSP00000465039 Q92918 UPI00000747ED NM_007181.5 tolerated(0.15) probably_damaging(0.987) 17/32 PIRSF_domain:PIRSF038172,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF88,Superfamily_domains:SSF56112,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TTG . . 38606175 DYRK1B . GRCh38 chr19 39833265 39833265 + Splice_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.-102+2T>G ENST00000593685 72 53 14 67 63 1 DYRK1B,splice_donor_variant,,ENST00000593685,;DYRK1B,intron_variant,,ENST00000323039,NM_004714.2;DYRK1B,intron_variant,,ENST00000348817,NM_006484.2;DYRK1B,intron_variant,,ENST00000430012,NM_006483.2;DYRK1B,intron_variant,,ENST00000600611,;DYRK1B,intron_variant,,ENST00000601972,;FBL,downstream_gene_variant,,ENST00000221801,NM_001436.3;FBL,downstream_gene_variant,,ENST00000595545,;FBL,downstream_gene_variant,,ENST00000597224,;FBL,downstream_gene_variant,,ENST00000597634,;DYRK1B,upstream_gene_variant,,ENST00000597639,;FBL,downstream_gene_variant,,ENST00000598417,;FBL,downstream_gene_variant,,ENST00000601274,;MIR6719,upstream_gene_variant,,ENST00000622428,;FBL,downstream_gene_variant,,ENST00000593503,;FBL,downstream_gene_variant,,ENST00000594443,;FBL,downstream_gene_variant,,ENST00000599159,;DYRK1B,upstream_gene_variant,,ENST00000601696,;,regulatory_region_variant,,ENSR00000109449,; C ENSG00000105204 ENST00000593685 Transcript splice_donor_variant 1 -1 DYRK1B HGNC HGNC:3092 protein_coding YES CCDS12543.1 ENSP00000469863 Q9Y463 A0A024R0I0 UPI0000001059 1/10 HIGH SNV 5 1 PASS TAC . . 39833265 MAP3K10 . GRCh38 chr19 40192032 40192032 + Translation_Start_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1A>C p.Met1? p.M1? ENST00000253055 1/10 71 53 13 66 66 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; C ENSG00000130758 ENST00000253055 Transcript start_lost 289/3436 1/2865 1/954 M/L Atg/Ctg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.456) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS CAT . . 40192032 MEGF8 . GRCh38 chr19 42375857 42375857 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.7620T>G p.Asp2540Glu p.D2540E ENST00000251268 42/42 100 76 18 58 58 0 MEGF8,missense_variant,p.Asp134Glu,ENST00000378073,;MEGF8,missense_variant,p.Asp2473Glu,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Asp2540Glu,ENST00000251268,NM_001271938.1;MEGF8,3_prime_UTR_variant,,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,non_coding_transcript_exon_variant,,ENST00000599787,; G ENSG00000105429 ENST00000251268 Transcript missense_variant 7620/9549 7620/8538 2540/2845 D/E gaT/gaG 1 1 MEGF8 HGNC HGNC:3233 protein_coding YES CCDS62693.1 ENSP00000251268 Q7Z7M0 UPI00005788D1 NM_001271938.1 tolerated(0.75) benign(0.281) 42/42 hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ATG . . 42375857 GRIN2D . GRCh38 chr19 48442720 48442720 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.2794T>G p.Phe932Val p.F932V ENST00000263269 13/13 74 55 9 59 59 0 GRIN2D,missense_variant,p.Phe932Val,ENST00000263269,NM_000836.2;GRWD1,upstream_gene_variant,,ENST00000253237,NM_031485.3;GRWD1,upstream_gene_variant,,ENST00000598711,;GRWD1,upstream_gene_variant,,ENST00000599949,; G ENSG00000105464 ENST00000263269 Transcript missense_variant 2882/5093 2794/4011 932/1336 F/V Ttc/Gtc 1 1 GRIN2D HGNC HGNC:4588 protein_coding YES CCDS12719.1 ENSP00000263269 O15399 UPI000013D3DA NM_000836.2 deleterious_low_confidence(0.03) benign(0.042) 13/13 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR43958,hmmpanther:PTHR43958:SF3 MODERATE 1 SNV 1 1 PASS TTT . . 48442720 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 74 50 20 57 57 0 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 PRR12 . GRCh38 chr19 49595302 49595302 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.967A>C p.Met323Leu p.M323L ENST00000418929 4/14 68 55 9 49 48 0 PRR12,missense_variant,p.Met323Leu,ENST00000418929,NM_020719.1;PRRG2,downstream_gene_variant,,ENST00000246794,NM_000951.2,NM_001316335.1;PRR12,upstream_gene_variant,,ENST00000615927,;PRRG2,downstream_gene_variant,,ENST00000596700,;PRRG2,downstream_gene_variant,,ENST00000543867,;PRRG2,downstream_gene_variant,,ENST00000597121,; C ENSG00000126464 ENST00000418929 Transcript missense_variant 979/6955 967/6111 323/2036 M/L Atg/Ctg 1 1 PRR12 HGNC HGNC:29217 protein_coding YES CCDS46143.1 ENSP00000394510 Q9ULL5 UPI0001596889 NM_020719.1 tolerated(0.38) benign(0.096) 4/14 hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1 MODERATE SNV 5 PASS CAT . . 49595302 PPP1R12C . GRCh38 chr19 55117381 55117381 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.163T>G p.Phe55Val p.F55V ENST00000263433 1/22 43 27 10 39 38 0 PPP1R12C,missense_variant,p.Phe55Val,ENST00000263433,NM_017607.3,NM_001271618.1;PPP1R12C,missense_variant,p.Phe12Val,ENST00000592993,;PPP1R12C,upstream_gene_variant,,ENST00000435544,;PPP1R12C,upstream_gene_variant,,ENST00000586992,;,regulatory_region_variant,,ENSR00000111596,;AC010327.2,downstream_gene_variant,,ENST00000587647,; C ENSG00000125503 ENST00000263433 Transcript missense_variant 179/2924 163/2349 55/782 F/V Ttc/Gtc 1 -1 PPP1R12C HGNC HGNC:14947 protein_coding YES CCDS12916.1 ENSP00000263433 Q9BZL4 UPI000006FEE1 NM_017607.3,NM_001271618.1 deleterious(0) possibly_damaging(0.68) 1/22 hmmpanther:PTHR24179:SF27,hmmpanther:PTHR24179,Gene3D:1.25.40.20,PIRSF_domain:PIRSF038141 MODERATE 1 SNV 1 PASS AAC . . 55117381 ZNF837 . GRCh38 chr19 58369195 58369195 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.138A>C p.Gln46His p.Q46H ENST00000427624 3/3 77 60 15 39 39 0 ZNF837,missense_variant,p.Gln46His,ENST00000427624,;ZNF837,missense_variant,p.Gln46His,ENST00000597582,NM_138466.1;AC012313.6,downstream_gene_variant,,ENST00000599889,;,regulatory_region_variant,,ENSR00000111870,; G ENSG00000152475 ENST00000427624 Transcript missense_variant 461/2038 138/1596 46/531 Q/H caA/caC 1 -1 ZNF837 HGNC HGNC:25164 protein_coding YES CCDS46216.1 ENSP00000405699 Q96EG3 UPI00001C2012 deleterious(0.01) possibly_damaging(0.549) 3/3 hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF624,mobidb-lite MODERATE 1 SNV 1 PASS TTT . . 58369195 PANK2 . GRCh38 chr20 3889306 3889306 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.206T>G p.Phe69Cys p.F69C ENST00000316562 1/7 78 66 8 67 67 0 PANK2,missense_variant,p.Phe69Cys,ENST00000316562,NM_153638.3;PANK2,intron_variant,,ENST00000495692,NM_001324193.1;PANK2,intron_variant,,ENST00000497424,NM_001324191.1,NM_024960.5;PANK2,upstream_gene_variant,,ENST00000610179,;PANK2,upstream_gene_variant,,ENST00000621507,NM_153640.3;PANK2,upstream_gene_variant,,ENST00000646394,;AL353194.1,upstream_gene_variant,,ENST00000451507,;PANK2,upstream_gene_variant,,ENST00000471830,;PANK2,upstream_gene_variant,,ENST00000336066,;PANK2,upstream_gene_variant,,ENST00000643504,;,regulatory_region_variant,,ENSR00000133825,; G ENSG00000125779 ENST00000316562 Transcript missense_variant 212/2280 206/1713 69/570 F/C tTt/tGt 1 1 PANK2 HGNC HGNC:15894 protein_coding YES CCDS13071.2 ENSP00000313377 Q9BZ23 UPI000036701A NM_153638.3 deleterious_low_confidence(0) benign(0) 1/7 mobidb-lite MODERATE 1 SNV 1 1 PASS TTT . . 3889306 ABHD12 . GRCh38 chr20 25390532 25390532 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.172A>C p.Met58Leu p.M58L ENST00000376542 1/13 84 57 10 56 53 0 ABHD12,missense_variant,p.Met58Leu,ENST00000339157,NM_001042472.2;ABHD12,missense_variant,p.Met58Leu,ENST00000376542,NM_015600.4;ABHD12,upstream_gene_variant,,ENST00000471287,;ABHD12,missense_variant,p.Met58Leu,ENST00000461204,;,regulatory_region_variant,,ENSR00000135842,;,TF_binding_site_variant,,MA0470.1,; G ENSG00000100997 ENST00000376542 Transcript missense_variant 452/1725 172/1215 58/404 M/L Atg/Ctg 1 -1 ABHD12 HGNC HGNC:15868 protein_coding YES CCDS13172.1 ENSP00000365725 Q8N2K0 UPI000006F03A NM_015600.4 tolerated(0.4) possibly_damaging(0.658) 1/13 hmmpanther:PTHR12277:SF61,hmmpanther:PTHR12277 MODERATE 1 SNV 1 1 PASS ATT . . 25390532 FAM182B . GRCh38 chr20 25775134 25775134 + Missense_Mutation SNP C C G rs371022792 7316-475 BS_JGTBRH16 C C c.186G>C p.Gln62His p.Q62H ENST00000376403 3/3 137 103 30 78 74 3 FAM182B,missense_variant,p.Gln62His,ENST00000376403,;FAM182B,missense_variant,p.Gln70His,ENST00000584071,;FAM182B,missense_variant,p.Gln61His,ENST00000376404,;FAM182B,non_coding_transcript_exon_variant,,ENST00000478164,;FAM182B,non_coding_transcript_exon_variant,,ENST00000485279,;FAM182B,non_coding_transcript_exon_variant,,ENST00000453481,;FAM182B,downstream_gene_variant,,ENST00000582267,;FAM182B,downstream_gene_variant,,ENST00000584356,; G ENSG00000175170 ENST00000376403 Transcript missense_variant 565/1681 186/459 62/152 Q/H caG/caC rs371022792,COSM4134359,COSM4134358 1 -1 FAM182B HGNC HGNC:34503 protein_coding YES ENSP00000365585 Q5T319 UPI000047001E tolerated_low_confidence(0.21) benign(0.398) 3/3 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TCT . . 4.711e-05 0.0002856 8.913e-05 25775134 TP53RK . GRCh38 chr20 46689133 46689133 + Splice_Region SNP A A C novel 7316-475 BS_JGTBRH16 A A c.282T>G p.Ala94= p.A94= ENST00000372114 1/2 84 62 17 63 63 0 TP53RK,splice_region_variant,p.Ala94=,ENST00000372114,NM_033550.3;TP53RK,synonymous_variant,p.Ala94=,ENST00000372102,;SLC13A3,upstream_gene_variant,,ENST00000372121,;AL031055.1,upstream_gene_variant,,ENST00000606362,;,regulatory_region_variant,,ENSR00000137823,; C ENSG00000172315 ENST00000372114 Transcript splice_region_variant,synonymous_variant 647/3515 282/762 94/253 A gcT/gcG 1 -1 TP53RK HGNC HGNC:16197 protein_coding YES CCDS13401.1 ENSP00000361186 Q96S44 UPI0000035B7A NM_033550.3 1/2 PROSITE_profiles:PS50011,cd00180,hmmpanther:PTHR12209,Pfam_domain:PF06293,Gene3D:3.90.1200.10,TIGRFAM_domain:TIGR03724,SMART_domains:SM00220,Superfamily_domains:SSF56112 LOW 1 SNV 1 1 PASS CAG . . 46689133 PREX1 . GRCh38 chr20 48632498 48632498 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.4409A>C p.Lys1470Thr p.K1470T ENST00000371941 34/40 81 70 11 53 53 0 PREX1,missense_variant,p.Lys1470Thr,ENST00000371941,NM_020820.3;PREX1,missense_variant,p.Lys792Thr,ENST00000482556,; G ENSG00000124126 ENST00000371941 Transcript missense_variant,splice_region_variant 4432/6636 4409/4980 1470/1659 K/T aAa/aCa 1 -1 PREX1 HGNC HGNC:32594 protein_coding YES CCDS13410.1 ENSP00000361009 Q8TCU6 UPI000013D375 NM_020820.3 deleterious(0.02) benign(0.199) 34/40 hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6 MODERATE 1 SNV 1 PASS TTT . . 48632498 COL20A1 . GRCh38 chr20 63310466 63310466 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1349A>C p.Tyr450Ser p.Y450S ENST00000358894 11/36 78 64 10 52 52 0 COL20A1,missense_variant,p.Tyr457Ser,ENST00000422202,;COL20A1,missense_variant,p.Tyr450Ser,ENST00000358894,NM_020882.2;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,; C ENSG00000101203 ENST00000358894 Transcript missense_variant 1449/4172 1349/3855 450/1284 Y/S tAt/tCt 1 1 COL20A1 HGNC HGNC:14670 protein_coding YES CCDS46628.1 ENSP00000351767 Q9P218 UPI000051910D NM_020882.2 deleterious(0.01) possibly_damaging(0.821) 11/36 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR44557,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 MODERATE 1 SNV 1 PASS TAT . . 63310466 PAXBP1 . GRCh38 chr21 32771603 32771603 + Missense_Mutation SNP T T G novel 7316-475 BS_JGTBRH16 T T c.66A>C p.Glu22Asp p.E22D ENST00000331923 1/18 70 56 10 53 50 0 PAXBP1,missense_variant,p.Glu22Asp,ENST00000331923,NM_016631.3;PAXBP1,missense_variant,p.Glu22Asp,ENST00000290178,NM_013329.3;C21orf62-AS1,upstream_gene_variant,,ENST00000382375,;C21orf62-AS1,upstream_gene_variant,,ENST00000382377,;C21orf62-AS1,upstream_gene_variant,,ENST00000382378,;C21orf62-AS1,upstream_gene_variant,,ENST00000454365,;C21orf62-AS1,upstream_gene_variant,,ENST00000477513,;C21orf62-AS1,upstream_gene_variant,,ENST00000491756,;C21orf62-AS1,upstream_gene_variant,,ENST00000612326,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000472588,;PAXBP1,missense_variant,p.Glu22Asp,ENST00000443785,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000464256,;,regulatory_region_variant,,ENSR00000141464,; G ENSG00000159086 ENST00000331923 Transcript missense_variant 256/3995 66/2754 22/917 E/D gaA/gaC 1 -1 PAXBP1 HGNC HGNC:13579 protein_coding YES CCDS13619.1 ENSP00000328992 Q9Y5B6 UPI000012B294 NM_016631.3 tolerated_low_confidence(0.31) benign(0.123) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12214,hmmpanther:PTHR12214:SF2 MODERATE 1 SNV 1 PASS GTT . . 32771603 OLIG1 . GRCh38 chr21 33070445 33070445 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.199A>C p.Lys67Gln p.K67Q ENST00000382348 1/1 68 51 11 49 48 0 OLIG1,missense_variant,p.Lys67Gln,ENST00000382348,NM_138983.2;OLIG1,upstream_gene_variant,,ENST00000426947,;AP000282.1,intron_variant,,ENST00000454622,;OLIG1,upstream_gene_variant,,ENST00000498799,;,regulatory_region_variant,,ENSR00000141504,; C ENSG00000184221 ENST00000382348 Transcript missense_variant 302/2277 199/816 67/271 K/Q Aag/Cag 1 1 OLIG1 HGNC HGNC:16983 protein_coding YES CCDS42920.2 ENSP00000371785 Q8TAK6 UPI0000130C80 NM_138983.2 deleterious_low_confidence(0) benign(0.067) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR19290:SF7,hmmpanther:PTHR19290 MODERATE SNV PASS CAA . . 33070445 CLIC6 . GRCh38 chr21 34670282 34670282 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.894A>C p.Gln298His p.Q298H ENST00000360731 1/7 83 64 14 67 66 0 CLIC6,missense_variant,p.Gln298His,ENST00000360731,NM_001317009.1;CLIC6,missense_variant,p.Gln298His,ENST00000349499,NM_053277.2; C ENSG00000159212 ENST00000360731 Transcript missense_variant 894/3860 894/2115 298/704 Q/H caA/caC 1 1 CLIC6 HGNC HGNC:2065 protein_coding YES CCDS82669.1 ENSP00000353959 Q96NY7 UPI0000074422 NM_001317009.1 tolerated(0.07) benign(0) 1/7 mobidb-lite,hmmpanther:PTHR45476 MODERATE 1 SNV 1 PASS AAT . . 34670282 RUNX1 . GRCh38 chr21 34792308 34792308 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1270T>G p.Ser424Ala p.S424A ENST00000300305 8/8 41 20 7 47 46 1 RUNX1,missense_variant,p.Ser397Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Ser424Ala,ENST00000300305,;RUNX1,missense_variant,p.Ser424Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser333Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1715/6222 1270/1443 424/480 S/A Tcg/Gcg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) possibly_damaging(0.453) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS GAG . . 34792308 LRP5L . GRCh38 chr22 25405200 25405200 + Splice_Site SNP A A C novel 7316-475 BS_JGTBRH16 A A c.-526+2T>G ENST00000444995 80 67 9 58 58 0 LRP5L,splice_donor_variant,,ENST00000444995,;,regulatory_region_variant,,ENSR00000144522,; C ENSG00000100068 ENST00000444995 Transcript splice_donor_variant 1 -1 LRP5L HGNC HGNC:25323 protein_coding ENSP00000407283 A4QPB2 UPI0000F705B5 1/6 HIGH 1 SNV 5 PASS TAC . . 25405200 HDAC10 . GRCh38 chr22 50248373 50248373 + Missense_Mutation SNP A A C rs148078988 7316-475 BS_JGTBRH16 A A c.1006T>G p.Cys336Gly p.C336G ENST00000216271 11/20 71 58 9 51 50 1 HDAC10,missense_variant,p.Cys336Gly,ENST00000216271,NM_032019.5;HDAC10,missense_variant,p.Cys286Gly,ENST00000448072,;HDAC10,missense_variant,p.Cys316Gly,ENST00000349505,NM_001159286.1;HDAC10,3_prime_UTR_variant,,ENST00000626012,;MAPK12,downstream_gene_variant,,ENST00000215659,NM_002969.4;TUBGCP6,upstream_gene_variant,,ENST00000248846,NM_020461.3;MAPK12,downstream_gene_variant,,ENST00000395780,;TUBGCP6,upstream_gene_variant,,ENST00000439308,;MAPK12,downstream_gene_variant,,ENST00000622558,NM_001303252.1;MAPK12,non_coding_transcript_exon_variant,,ENST00000497036,;HDAC10,non_coding_transcript_exon_variant,,ENST00000498366,;HDAC10,non_coding_transcript_exon_variant,,ENST00000483222,;HDAC10,downstream_gene_variant,,ENST00000470965,;HDAC10,downstream_gene_variant,,ENST00000489424,;HDAC10,downstream_gene_variant,,ENST00000496909,;HDAC10,downstream_gene_variant,,ENST00000497483,;HDAC10,missense_variant,p.Cys286Gly,ENST00000454936,;HDAC10,3_prime_UTR_variant,,ENST00000429374,;HDAC10,non_coding_transcript_exon_variant,,ENST00000477814,;HDAC10,non_coding_transcript_exon_variant,,ENST00000475965,;HDAC10,non_coding_transcript_exon_variant,,ENST00000470378,;HDAC10,non_coding_transcript_exon_variant,,ENST00000471375,;HDAC10,non_coding_transcript_exon_variant,,ENST00000476310,;HDAC10,intron_variant,,ENST00000415993,;MAPK12,downstream_gene_variant,,ENST00000467891,;HDAC10,downstream_gene_variant,,ENST00000482213,;HDAC10,downstream_gene_variant,,ENST00000488270,;MAPK12,downstream_gene_variant,,ENST00000488504,;HDAC10,upstream_gene_variant,,ENST00000496235,;HDAC10,upstream_gene_variant,,ENST00000497952,;TUBGCP6,upstream_gene_variant,,ENST00000498611,;,regulatory_region_variant,,ENSR00000147699,; C ENSG00000100429 ENST00000216271 Transcript missense_variant 1359/2687 1006/2010 336/669 C/G Tgt/Ggt rs148078988 1 -1 HDAC10 HGNC HGNC:18128 protein_coding YES CCDS14088.1 ENSP00000216271 Q969S8 UPI000012C3A6 NM_032019.5 deleterious(0.01) benign(0.027) 11/20 Gene3D:3.40.800.20,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF148,Superfamily_domains:SSF52768,cd11683 MODERATE 1 SNV 1 PASS CAT . . 4.123e-06 3.251e-05 50248373 WAS . GRCh38 chrX 48689052 48689052 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1324A>C p.Ile442Leu p.I442L ENST00000376701 10/12 36 27 6 19 19 0 WAS,missense_variant,p.Ile442Leu,ENST00000376701,NM_000377.2;WAS,downstream_gene_variant,,ENST00000450772,;WAS,non_coding_transcript_exon_variant,,ENST00000470107,;WAS,downstream_gene_variant,,ENST00000465982,;WAS,downstream_gene_variant,,ENST00000474174,;WAS,downstream_gene_variant,,ENST00000483750,;WAS,downstream_gene_variant,,ENST00000490627,; C ENSG00000015285 ENST00000376701 Transcript missense_variant 1399/1849 1324/1509 442/502 I/L Att/Ctt 1 1 WAS HGNC HGNC:12731 protein_coding YES CCDS14303.1 ENSP00000365891 P42768 A0A024QYX8 UPI000003CA0A NM_000377.2 tolerated(0.05) possibly_damaging(0.503) 10/12 PDB-ENSP_mappings:2a3z.C,Gene3D:3.90.810.10,Pfam_domain:PF02205,PROSITE_profiles:PS51082,hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF35,SMART_domains:SM00246,Superfamily_domains:SSF47912,mobidb-lite MODERATE 1 SNV 1 1 PASS AAT . . 48689052 RBMXL3 . GRCh38 chrX 115191188 115191188 + Missense_Mutation SNP A A C rs1460842113 7316-475 BS_JGTBRH16 A A c.1747A>C p.Asn583His p.N583H ENST00000424776 1/1 38 25 5 28 27 0 RBMXL3,missense_variant,p.Asn583His,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;,regulatory_region_variant,,ENSR00000343012,; C ENSG00000175718 ENST00000424776 Transcript missense_variant 1762/3442 1747/3204 583/1067 N/H Aac/Cac rs1460842113 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.24) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345,hmmpanther:PTHR44345 MODERATE SNV PASS CAA . . 115191188 TEX13C . GRCh38 chrX 125321584 125321584 + Missense_Mutation SNP A A C novel 7316-475 BS_JGTBRH16 A A c.1465A>C p.Met489Leu p.M489L ENST00000632600 1/1 34 19 5 23 23 0 TEX13C,missense_variant,p.Met489Leu,ENST00000632600,NM_001195272.1; C ENSG00000282815 ENST00000632600 Transcript missense_variant 1465/5095 1465/2982 489/993 M/L Atg/Ctg 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.31) benign(0.003) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28 MODERATE 1 SNV PASS AAT . . 125321584 RBM15 . GRCh38 chr1 110341774 110341774 + Missense_Mutation SNP G G A 7316-880 BS_RZHVM2QD G G c.2369G>A p.Gly790Asp p.G790D ENST00000369784 1/3 73 67 5 23 22 0 RBM15,missense_variant,p.Gly790Asp,ENST00000369784,;RBM15,missense_variant,p.Gly790Asp,ENST00000618772,NM_022768.4;RBM15,missense_variant,p.Gly790Asp,ENST00000602849,;RBM15,missense_variant,p.Gly790Asp,ENST00000487146,NM_001201545.1;RBM15,missense_variant,p.Gly746Asp,ENST00000617047,;RBM15-AS1,upstream_gene_variant,,ENST00000449169,; A ENSG00000162775 ENST00000369784 Transcript missense_variant 3269/4244 2369/2934 790/977 G/D gGc/gAc COSM403486 1 1 RBM15 HGNC HGNC:14959 protein_coding YES CCDS822.1 ENSP00000358799 Q96T37 UPI000013E1C5 deleterious(0) probably_damaging(1) 1/3 PROSITE_profiles:PS50917,hmmpanther:PTHR23189:SF43,hmmpanther:PTHR23189,Pfam_domain:PF07744,Gene3D:2.40.290.10,Superfamily_domains:SSF100939 1 MODERATE 1 SNV 1 1 1 PASS GGC . . 110341774 CRNN . GRCh38 chr1 152410124 152410124 + Missense_Mutation SNP A A C 7316-880 BS_RZHVM2QD A A c.958T>G p.Ser320Ala p.S320A ENST00000271835 3/3 76 56 12 39 37 1 CRNN,missense_variant,p.Ser320Ala,ENST00000271835,NM_016190.2;FLG-AS1,intron_variant,,ENST00000411804,;FLG-AS1,downstream_gene_variant,,ENST00000628475,; C ENSG00000143536 ENST00000271835 Transcript missense_variant 1021/1902 958/1488 320/495 S/A Tcc/Gcc COSM6198729 1 -1 CRNN HGNC HGNC:1230 protein_coding YES CCDS1010.1 ENSP00000271835 Q9UBG3 UPI000006E106 NM_016190.2 deleterious(0.05) benign(0.011) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11639:SF26,hmmpanther:PTHR11639 1 MODERATE 1 SNV 1 1 PASS GAC . . 152410124 AQP10 . GRCh38 chr1 154321988 154321988 + Missense_Mutation SNP A A G rs201824170 7316-880 BS_RZHVM2QD A A c.161A>G p.Asn54Ser p.N54S ENST00000324978 2/6 72 59 11 47 45 0 AQP10,missense_variant,p.Asn54Ser,ENST00000484864,;AQP10,missense_variant,p.Asn54Ser,ENST00000324978,NM_080429.2;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;AQP10,intron_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,; G ENSG00000143595 ENST00000324978 Transcript missense_variant 201/1791 161/906 54/301 N/S aAc/aGc rs201824170,COSM4221976,COSM1736667 1 1 AQP10 HGNC HGNC:16029 protein_coding YES CCDS1065.1 ENSP00000318355 Q96PS8 UPI000007028A NM_080429.2 tolerated(0.5) possibly_damaging(0.6) 2/6 Gene3D:1.20.1080.10,Pfam_domain:PF00230,hmmpanther:PTHR43829,hmmpanther:PTHR43829:SF13,Superfamily_domains:SSF81338,TIGRFAM_domain:TIGR00861,cd00333 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAC . . 0.01164 0.01481 0.007159 0.01139 0.002891 0.01945 0.01427 0.009133 0.007581 154321988 AL355388.1 . GRCh38 chr1 155991515 155991516 + Splice_Region DEL GT GT - rs796904230 7316-880 BS_RZHVM2QD GT GT n.121+22_121+23del ENST00000415726 71 61 5 44 40 0 ARHGEF2,intron_variant,,ENST00000423422,;ARHGEF2,upstream_gene_variant,,ENST00000462460,;ARHGEF2,upstream_gene_variant,,ENST00000495070,;AL355388.1,splice_region_variant,,ENST00000415726,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,upstream_gene_variant,,ENST00000609126,;,regulatory_region_variant,,ENSR00000014127,; - ENSG00000224276 ENST00000415726 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs796904230 1 1 AL355388.1 Clone_based_ensembl_gene antisense YES 1/1 LOW 1 deletion 2 17 PASS GAGTG . . 155991514 COP1 . GRCh38 chr1 176027678 176027678 + Missense_Mutation SNP C C A novel 7316-880 BS_RZHVM2QD C C c.1623G>T p.Trp541Cys p.W541C ENST00000367669 15/20 67 40 25 43 43 0 COP1,missense_variant,p.Trp541Cys,ENST00000367669,NM_001286644.1,NM_022457.6;COP1,missense_variant,p.Trp517Cys,ENST00000308769,NM_001001740.3;COP1,missense_variant,p.Trp376Cys,ENST00000367666,;COP1,3_prime_UTR_variant,,ENST00000367667,;COP1,non_coding_transcript_exon_variant,,ENST00000461830,; A ENSG00000143207 ENST00000367669 Transcript missense_variant 2138/3033 1623/2196 541/731 W/C tgG/tgT 1 -1 COP1 HGNC HGNC:17440 protein_coding YES CCDS30944.1 ENSP00000356641 Q8NHY2 UPI0000061E51 NM_001286644.1,NM_022457.6 deleterious(0) probably_damaging(0.996) 15/20 PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,cd00200,hmmpanther:PTHR44080,hmmpanther:PTHR44080:SF1,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978 MODERATE 1 SNV 1 PASS ACC . . 176027678 COP1 . GRCh38 chr1 176043776 176043776 + Missense_Mutation SNP G G T novel 7316-880 BS_RZHVM2QD G G c.1464C>A p.Ser488Arg p.S488R ENST00000367669 13/20 86 51 33 63 62 0 COP1,missense_variant,p.Ser488Arg,ENST00000367669,NM_001286644.1,NM_022457.6;COP1,missense_variant,p.Ser464Arg,ENST00000308769,NM_001001740.3;COP1,missense_variant,p.Ser323Arg,ENST00000367666,;COP1,missense_variant,p.Ser208Arg,ENST00000459744,;COP1,3_prime_UTR_variant,,ENST00000367667,;COP1,intron_variant,,ENST00000461830,; T ENSG00000143207 ENST00000367669 Transcript missense_variant 1979/3033 1464/2196 488/731 S/R agC/agA 1 -1 COP1 HGNC HGNC:17440 protein_coding YES CCDS30944.1 ENSP00000356641 Q8NHY2 UPI0000061E51 NM_001286644.1,NM_022457.6 deleterious(0) probably_damaging(0.99) 13/20 PROSITE_profiles:PS50294,cd00200,hmmpanther:PTHR44080,hmmpanther:PTHR44080:SF1,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978 MODERATE 1 SNV 1 PASS TGC . . 176043776 DYNC1I2 . GRCh38 chr2 171692871 171692871 + Missense_Mutation SNP G G A novel 7316-880 BS_RZHVM2QD G G c.203G>A p.Gly68Glu p.G68E ENST00000397119 3/18 82 41 38 35 35 0 DYNC1I2,missense_variant,p.Gly68Glu,ENST00000397119,NM_001378.2;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000340296,NM_001271788.1;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000409773,NM_001271785.1;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000409197,NM_001271789.1;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000409453,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000508530,NM_001320884.1,NM_001271790.1;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000409317,NM_001320883.1,NM_001320882.1;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000410079,NM_001271787.1,NM_001271786.1;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000435234,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000452242,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000438879,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000456808,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000425485,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000443458,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000423910,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000411953,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000412370,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000430778,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000422646,;DYNC1I2,missense_variant,p.Gly68Glu,ENST00000445378,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000471482,; A ENSG00000077380 ENST00000397119 Transcript missense_variant 370/2604 203/1917 68/638 G/E gGg/gAg 1 1 DYNC1I2 HGNC HGNC:2964 protein_coding YES CCDS46450.1 ENSP00000380308 Q13409 A0A140VKE9 UPI0000129A05 NM_001378.2 deleterious(0) probably_damaging(1) 3/18 mobidb-lite,hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF34,Gene3D:2.130.10.10 MODERATE 1 SNV 1 PASS GGG . . 171692871 XPC . GRCh38 chr3 14178466 14178468 + In_Frame_Del DEL CCT CCT - rs750450365 7316-880 BS_RZHVM2QD CCT CCT c.101_103del p.Glu34del p.E34del ENST00000285021 1/16 73 61 5 42 42 0 XPC,inframe_deletion,p.Glu34del,ENST00000285021,NM_004628.4,NM_001354729.1;LSM3,5_prime_UTR_variant,,ENST00000306024,NM_014463.2;XPC,intron_variant,,ENST00000511155,;XPC,inframe_deletion,p.Glu34del,ENST00000476581,;,regulatory_region_variant,,ENSR00000148882,; - ENSG00000154767 ENST00000285021 Transcript inframe_deletion,splice_region_variant 316-318/3832 101-103/2823 34-35/940 ED/D gAGGat/gat rs750450365,TMP_ESP_3_14219966_14219968,COSM128738 1 -1 XPC HGNC HGNC:12816 protein_coding YES CCDS46763.1 ENSP00000285021 Q01831 X5DRB1 UPI000196375E NM_004628.4,NM_001354729.1 1/16 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12135:SF0,hmmpanther:PTHR12135 0.08597 0.09028 0,0,1 MODERATE 1 deletion 1 0,0,1 1 PASS ACCCTC . . 0.001475 0.0007729 0.0009105 0.002503 0.0008807 0.003219 0.001388 0.001698 0.001571 14178465 MYLK . GRCh38 chr3 123664192 123664192 + Missense_Mutation SNP C C T rs149530842 7316-880 BS_RZHVM2QD C C c.3898G>A p.Ala1300Thr p.A1300T ENST00000360304 22/33 53 35 18 39 39 0 MYLK,missense_variant,p.Ala1300Thr,ENST00000360772,;MYLK,missense_variant,p.Ala1300Thr,ENST00000360304,NM_001321309.1,NM_053025.3;MYLK,missense_variant,p.Ala1300Thr,ENST00000359169,NM_053027.3;MYLK,missense_variant,p.Ala1231Thr,ENST00000354792,;MYLK,missense_variant,p.Ala1231Thr,ENST00000346322,NM_053026.3,NM_053028.3;MYLK,missense_variant,p.Ala1300Thr,ENST00000475616,;MYLK,missense_variant,p.Ala100Thr,ENST00000508240,;MYLK,downstream_gene_variant,,ENST00000510775,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,downstream_gene_variant,,ENST00000511058,; T ENSG00000065534 ENST00000360304 Transcript missense_variant 4084/7738 3898/5745 1300/1914 A/T Gcg/Acg rs149530842,COSM5736732,COSM1216275 1 -1 MYLK HGNC HGNC:7590 protein_coding YES CCDS46896.1 ENSP00000353452 Q15746 UPI000020A0AE NM_001321309.1,NM_053025.3 tolerated(0.49) benign(0.003) 22/33 PROSITE_profiles:PS50835,cd05762,hmmpanther:PTHR45480,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726 0.0014 0.0038 0.0014 0.001 0.0006809 0.0003488 uncertain_significance,likely_benign 0,1,1 MODERATE 1 SNV 5 1,1,1 1 PASS GCG . . 0.0005038 0.001373 0.001698 0.0007111 5.798e-05 0.0002688 0.0007291 0.0001299 123664192 PIK3CA . GRCh38 chr3 179234297 179234297 + Missense_Mutation SNP A A G rs121913279 7316-880 BS_RZHVM2QD A A c.3140A>G p.His1047Arg p.H1047R ENST00000263967 21/21 73 51 20 39 39 0 PIK3CA,missense_variant,p.His1047Arg,ENST00000263967,NM_006218.3;PIK3CA,3_prime_UTR_variant,,ENST00000643187,;KCNMB3,downstream_gene_variant,,ENST00000485523,NM_171829.2; G ENSG00000121879 ENST00000263967 Transcript missense_variant 3297/9093 3140/3207 1047/1068 H/R cAt/cGt rs121913279,COSM94987,COSM94986,COSM776,COSM775,COSM249874 1 1 PIK3CA HGNC HGNC:8975 protein_coding YES CCDS43171.1 ENSP00000263967 P42336 UPI000013D494 NM_006218.3 tolerated(0.11) benign(0.085) 21/21 Gene3D:1.10.1070.11,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5dxt.A,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5ubr.A,PDB-ENSP_mappings:5uk8.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,PIRSF_domain:PIRSF000587,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF94,SMART_domains:SM00146,Superfamily_domains:SSF56112,cd05175 likely_pathogenic,pathogenic 0,1,1,1,1,1 15520168,15608678,17673550,23946963,15016963,22658544,22729222,26266975,26266985,28163917,25710561,28347348 MODERATE 1 SNV 2 1,1,1,1,1,1 1 PASS CAT . . 4.083e-06 9.04e-06 179234297 BRD9 . GRCh38 chr5 878410 878410 + Missense_Mutation SNP T T A rs508016 7316-880 BS_RZHVM2QD T T c.1216A>T p.Met406Leu p.M406L ENST00000467963 11/16 84 62 15 46 45 1 BRD9,missense_variant,p.Met406Leu,ENST00000467963,NM_023924.4;BRD9,missense_variant,p.Met353Leu,ENST00000483173,NM_001317951.1,NM_001009877.2;BRD9,non_coding_transcript_exon_variant,,ENST00000494422,;BRD9,non_coding_transcript_exon_variant,,ENST00000519838,;BRD9,missense_variant,p.Met27Leu,ENST00000519112,;BRD9,missense_variant,p.Met11Leu,ENST00000518251,;BRD9,3_prime_UTR_variant,,ENST00000490814,;BRD9,3_prime_UTR_variant,,ENST00000489816,;BRD9,3_prime_UTR_variant,,ENST00000495265,;BRD9,3_prime_UTR_variant,,ENST00000466684,;BRD9,non_coding_transcript_exon_variant,,ENST00000495794,;BRD9,non_coding_transcript_exon_variant,,ENST00000483234,;BRD9,non_coding_transcript_exon_variant,,ENST00000493082,;BRD9,non_coding_transcript_exon_variant,,ENST00000475706,;BRD9,upstream_gene_variant,,ENST00000523139,; A ENSG00000028310 ENST00000467963 Transcript missense_variant 1383/2156 1216/1794 406/597 M/L Atg/Ttg rs508016,COSM1162748,COSM1162747 1 -1 BRD9 HGNC HGNC:25818 protein_coding YES CCDS34127.2 ENSP00000419765 Q9H8M2 UPI000020BEBE NM_023924.4 tolerated(0.14) benign(0.012) 11/16 Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF4 0,1,1 16826518 MODERATE 1 SNV 2 0,1,1 PASS ATC . . 0.3184 0.3772 0.3309 0.2823 0.3903 0.3692 0.2968 0.3264 0.2729 878410 SLC30A5 . GRCh38 chr5 69094294 69094296 + In_Frame_Del DEL CGG CGG - rs770225872 7316-880 BS_RZHVM2QD CGG CGG c.52_54del p.Gly18del p.G18del ENST00000396591 1/16 67 59 5 49 44 0 SLC30A5,inframe_deletion,p.Gly18del,ENST00000396591,NM_022902.4;SLC30A5,inframe_deletion,p.Gly18del,ENST00000380860,NM_024055.4;SLC30A5,inframe_deletion,p.Gly18del,ENST00000502979,NM_001251969.1;SLC30A5,inframe_deletion,p.Gly18del,ENST00000504103,;SLC30A5,5_prime_UTR_variant,,ENST00000621204,;,regulatory_region_variant,,ENSR00000181991,; - ENSG00000145740 ENST00000396591 Transcript inframe_deletion 649-651/4360 39-41/2298 13-14/765 PG/P ccCGGc/ccc rs770225872 1 1 SLC30A5 HGNC HGNC:19089 protein_coding YES CCDS3996.1 ENSP00000379836 Q8TAD4 UPI0000073958 NM_022902.4 1/16 Low_complexity_(Seg):seg 0.006228 0.003645 MODERATE 1 deletion 1 13 PASS CCCGGC . . 0.0005957 0.009615 0.0005955 69094293 ARHGEF28 . GRCh38 chr5 73883794 73883794 + Missense_Mutation SNP C T T rs747665438 7316-880 BS_RZHVM2QD C C c.2965C>T p.Arg989Cys p.R989C ENST00000545377 24/37 62 14 46 45 43 0 ARHGEF28,missense_variant,p.Arg989Cys,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Arg989Cys,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Arg989Cys,ENST00000426542,;ARHGEF28,missense_variant,p.Arg989Cys,ENST00000437974,;ARHGEF28,missense_variant,p.Arg989Cys,ENST00000296794,;ARHGEF28,missense_variant,p.Arg676Cys,ENST00000296799,NM_001244364.1;ARHGEF28,upstream_gene_variant,,ENST00000512883,;ARHGEF28,non_coding_transcript_exon_variant,,ENST00000510312,;ARHGEF28,upstream_gene_variant,,ENST00000504003,; T ENSG00000214944 ENST00000545377 Transcript missense_variant 3141/6351 2965/5196 989/1731 R/C Cgc/Tgc rs747665438,COSM293333 1 1 ARHGEF28 HGNC HGNC:30322 protein_coding YES CCDS47231.2 ENSP00000441913 Q8N1W1 UPI00004DF58E NM_001080479.2 deleterious(0) probably_damaging(0.977) 24/37 Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133,SMART_domains:SM00325,Superfamily_domains:SSF48065,cd00160 0,1 MODERATE 1 SNV 5 0,1 PASS ACG . . 3.895e-05 1.285e-05 0.0002649 73883794 FBXW11 . GRCh38 chr5 171868784 171868784 + Missense_Mutation SNP G A A rs1265464557 7316-880 BS_RZHVM2QD G G c.1480C>T p.Arg494Cys p.R494C ENST00000265094 12/13 83 21 61 40 40 0 FBXW11,missense_variant,p.Arg481Cys,ENST00000296933,NM_033644.2;FBXW11,missense_variant,p.Arg494Cys,ENST00000265094,NM_012300.2;FBXW11,missense_variant,p.Arg460Cys,ENST00000393802,NM_033645.2;FBXW11,non_coding_transcript_exon_variant,,ENST00000522376,;FBXW11,upstream_gene_variant,,ENST00000518106,;FBXW11,3_prime_UTR_variant,,ENST00000523843,; A ENSG00000072803 ENST00000265094 Transcript missense_variant 1618/4342 1480/1629 494/542 R/C Cgt/Tgt rs1265464557,COSM1436014,COSM1436013 1 -1 FBXW11 HGNC HGNC:13607 protein_coding YES CCDS34289.1 ENSP00000265094 Q9UKB1 UPI000012ADB8 NM_012300.2 deleterious(0.02) possibly_damaging(0.627) 12/13 Gene3D:1.10.10.670,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR44038,hmmpanther:PTHR44038:SF1,SMART_domains:SM00320,Superfamily_domains:SSF50978,cd00200 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGT . . 4.086e-06 9.015e-06 171868784 OR2J3 . GRCh38 chr6 29112350 29112350 + Missense_Mutation SNP A A C novel 7316-880 BS_RZHVM2QD A A c.460A>C p.Ser154Arg p.S154R ENST00000641960 5/5 75 41 28 50 49 1 OR2J3,missense_variant,p.Ser154Arg,ENST00000641960,;OR2J3,missense_variant,p.Ser154Arg,ENST00000641151,;OR2J3,missense_variant,p.Ser154Arg,ENST00000377169,NM_001005216.3;,regulatory_region_variant,,ENSR00000320106,; C ENSG00000204701 ENST00000641960 Transcript missense_variant 922/3342 460/936 154/311 S/R Agt/Cgt 1 1 OR2J3 HGNC HGNC:8261 protein_coding YES CCDS43433.1 ENSP00000493439 A0A126GWT2 UPI000014073A deleterious(0.04) possibly_damaging(0.642) 5/5 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15947,hmmpanther:PTHR26453:SF184,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 MODERATE 1 SNV 1 PASS AAG . . 29112350 HLA-DRB5 . GRCh38 chr6 32522018 32522018 + Missense_Mutation SNP T T C rs144532965 7316-880 BS_RZHVM2QD T T c.257A>G p.Asp86Gly p.D86G ENST00000374975 2/6 50 34 12 27 26 0 HLA-DRB5,missense_variant,p.Asp86Gly,ENST00000374975,NM_002125.3; C ENSG00000198502 ENST00000374975 Transcript missense_variant 320/1260 257/801 86/266 D/G gAc/gGc rs144532965,COSM4594088,COSM3684271 1 -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154 UPI000008AF56 NM_002125.3 tolerated(0.05) benign(0.313) 2/6 PDB-ENSP_mappings:1fv1.B,PDB-ENSP_mappings:1fv1.E,PDB-ENSP_mappings:1h15.B,PDB-ENSP_mappings:1h15.E,PDB-ENSP_mappings:1hqr.B,PDB-ENSP_mappings:1zgl.B,PDB-ENSP_mappings:1zgl.E,PDB-ENSP_mappings:1zgl.H,PDB-ENSP_mappings:1zgl.K,Gene3D:3.10.320.10,blastprodom:PD000328,Pfam_domain:PF00969,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF84,SMART_domains:SM00921,Superfamily_domains:SSF54452 0,1,1 MODERATE 1 SNV 1,1,1 PASS GTC . . 0.03988 0.02962 0.016 0.01943 0.04968 0.114 0.04707 0.0452 0.01179 32522018 HLA-DRB5 . GRCh38 chr6 32522019 32522019 + Missense_Mutation SNP C C T rs145586726 7316-880 BS_RZHVM2QD C C c.256G>A p.Asp86Asn p.D86N ENST00000374975 2/6 51 35 12 27 26 0 HLA-DRB5,missense_variant,p.Asp86Asn,ENST00000374975,NM_002125.3; T ENSG00000198502 ENST00000374975 Transcript missense_variant 319/1260 256/801 86/266 D/N Gac/Aac rs145586726,COSM4006420 1 -1 HLA-DRB5 HGNC HGNC:4953 protein_coding YES CCDS4751.1 ENSP00000364114 Q30154 UPI000008AF56 NM_002125.3 tolerated(0.09) benign(0.222) 2/6 PDB-ENSP_mappings:1fv1.B,PDB-ENSP_mappings:1fv1.E,PDB-ENSP_mappings:1h15.B,PDB-ENSP_mappings:1h15.E,PDB-ENSP_mappings:1hqr.B,PDB-ENSP_mappings:1zgl.B,PDB-ENSP_mappings:1zgl.E,PDB-ENSP_mappings:1zgl.H,PDB-ENSP_mappings:1zgl.K,Gene3D:3.10.320.10,blastprodom:PD000328,Pfam_domain:PF00969,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF84,SMART_domains:SM00921,Superfamily_domains:SSF54452 0.0715 0.0719 0.0576 0.1171 0.0765 0.0286 0,1 MODERATE 1 SNV 0,1 PASS TCA . . 0.03526 0.02497 0.01445 0.01791 0.03755 0.09902 0.04169 0.04175 0.01111 32522019 TRPV5 . GRCh38 chr7 142925529 142925529 + Missense_Mutation SNP C C A novel 7316-880 BS_RZHVM2QD C C c.1122G>T p.Gln374His p.Q374H ENST00000265310 8/15 63 41 20 39 38 0 TRPV5,missense_variant,p.Gln374His,ENST00000265310,NM_019841.6;TRPV5,missense_variant,p.Gln374His,ENST00000442623,;TRPV5,missense_variant,p.Gln319His,ENST00000439304,;,regulatory_region_variant,,ENSR00000328807,; A ENSG00000127412 ENST00000265310 Transcript missense_variant,splice_region_variant 1471/2952 1122/2190 374/729 Q/H caG/caT 1 -1 TRPV5 HGNC HGNC:3145 protein_coding YES CCDS5875.1 ENSP00000265310 A0A0A6YY98 UPI0004620D64 NM_019841.6 deleterious(0.01) benign(0.093) 8/15 Pfam_domain:PF00520,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF11,TIGRFAM_domain:TIGR00870 MODERATE 1 SNV 1 PASS CCT . . 142925529 RP1L1 . GRCh38 chr8 10607642 10607642 + Missense_Mutation SNP A A C rs192863038 7316-880 BS_RZHVM2QD A A c.6456T>G p.Asp2152Glu p.D2152E ENST00000382483 4/4 64 46 16 37 30 1 RP1L1,missense_variant,p.Asp2152Glu,ENST00000382483,NM_178857.5; C ENSG00000183638 ENST00000382483 Transcript missense_variant 6680/7973 6456/7203 2152/2400 D/E gaT/gaG rs192863038,COSM748983 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(1) benign(0) 4/4 mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAT . . 0.002031 0.002335 0.002951 0.002036 0.00335 4.635e-05 0.00162 0.004415 0.003248 10607642 PTCH1 . GRCh38 chr9 95477700 95477700 + Frame_Shift_Del DEL G G - 7316-880 BS_RZHVM2QD G G c.1350del p.Ala451ProfsTer5 p.A451Pfs*5 ENST00000331920 10/24 72 40 26 46 45 0 PTCH1,frameshift_variant,p.Ala385ProfsTer5,ENST00000430669,;PTCH1,frameshift_variant,p.Ala451ProfsTer5,ENST00000331920,NM_000264.3;PTCH1,frameshift_variant,p.Ala385ProfsTer5,ENST00000437951,NM_001083602.1;PTCH1,frameshift_variant,p.Ala300ProfsTer5,ENST00000418258,NM_001083607.1;PTCH1,frameshift_variant,p.Ala300ProfsTer5,ENST00000421141,NM_001083605.1,NM_001083604.1;PTCH1,frameshift_variant,p.Ala300ProfsTer5,ENST00000429896,NM_001083606.1;PTCH1,frameshift_variant,p.Ala450ProfsTer5,ENST00000375274,NM_001083603.1;PTCH1,intron_variant,,ENST00000375271,;PTCH1,downstream_gene_variant,,ENST00000468211,NM_001354919.1;PTCH1,downstream_gene_variant,,ENST00000546820,;PTCH1,downstream_gene_variant,,ENST00000547672,;PTCH1,downstream_gene_variant,,ENST00000548420,;PTCH1,downstream_gene_variant,,ENST00000551630,;PTCH1,downstream_gene_variant,,ENST00000551845,;PTCH1,downstream_gene_variant,,ENST00000553011,;PTCH1,downstream_gene_variant,,ENST00000548379,;PTCH1,downstream_gene_variant,,ENST00000548945,;PTCH1,downstream_gene_variant,,ENST00000553256,;PTCH1,frameshift_variant,p.Ala330ProfsTer5,ENST00000375290,;PTCH1,downstream_gene_variant,,ENST00000488809,;PTCH1,downstream_gene_variant,,ENST00000550136,;PTCH1,downstream_gene_variant,,ENST00000550914,;PTCH1,downstream_gene_variant,,ENST00000551623,; - ENSG00000185920 ENST00000331920 Transcript frameshift_variant,splice_region_variant 1650/8057 1350/4344 450/1447 L/X ctC/ct COSM29275 1 -1 PTCH1 HGNC HGNC:9585 protein_coding YES CCDS6714.1 ENSP00000332353 Q13635 UPI00001AFF9C NM_000264.3 10/24 Gene3D:1.20.1640.10,Pfam_domain:PF02460,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,Superfamily_domains:SSF82866,TIGRFAM_domain:TIGR00918,Transmembrane_helices:TMhelix 1 HIGH 1 deletion 5 1 1 PASS GCGA . . 95477699 PTCH1 . GRCh38 chr9 95506510 95506511 + Frame_Shift_Ins INS - - T novel 7316-880 BS_RZHVM2QD - - c.290dup p.Asn97LysfsTer43 p.N97Kfs*43 ENST00000331920 2/24 41 20 16 26 24 0 PTCH1,frameshift_variant,p.Asn31LysfsTer43,ENST00000430669,;PTCH1,frameshift_variant,p.Asn97LysfsTer43,ENST00000331920,NM_000264.3;PTCH1,frameshift_variant,p.Asn31LysfsTer43,ENST00000437951,NM_001083602.1;PTCH1,frameshift_variant,p.Asn96LysfsTer43,ENST00000375274,NM_001083603.1;PTCH1,frameshift_variant,p.Asn31LysfsTer43,ENST00000468211,NM_001354919.1;PTCH1,5_prime_UTR_variant,,ENST00000418258,NM_001083607.1;PTCH1,5_prime_UTR_variant,,ENST00000421141,NM_001083605.1,NM_001083604.1;PTCH1,5_prime_UTR_variant,,ENST00000429896,NM_001083606.1;PTCH1,5_prime_UTR_variant,,ENST00000553011,;PTCH1,5_prime_UTR_variant,,ENST00000547672,;PTCH1,5_prime_UTR_variant,,ENST00000546820,;PTCH1,5_prime_UTR_variant,,ENST00000551845,;PTCH1,5_prime_UTR_variant,,ENST00000548420,;PTCH1,5_prime_UTR_variant,,ENST00000551630,;AL161729.1,non_coding_transcript_exon_variant,,ENST00000604104,;PTCH1,non_coding_transcript_exon_variant,,ENST00000548945,;PTCH1,intron_variant,,ENST00000551425,;PTCH1,upstream_gene_variant,,ENST00000548379,;PTCH1,frameshift_variant,p.Asn30LysfsTer43,ENST00000375290,;PTCH1,5_prime_UTR_variant,,ENST00000550914,;PTCH1,intron_variant,,ENST00000551623,;,regulatory_region_variant,,ENSR00000238296,; T ENSG00000185920 ENST00000331920 Transcript frameshift_variant 590-591/8057 290-291/4344 97/1447 N/KX aac/aaAc 1 -1 PTCH1 HGNC HGNC:9585 protein_coding YES CCDS6714.1 ENSP00000332353 Q13635 UPI00001AFF9C NM_000264.3 2/24 hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,TIGRFAM_domain:TIGR00918 HIGH 1 insertion 5 1 PASS AGT . . 95506510 CCDC183 . GRCh38 chr9 136804544 136804544 + Missense_Mutation SNP C C T novel 7316-880 BS_RZHVM2QD C C c.709C>T p.Arg237Trp p.R237W ENST00000338005 7/14 64 45 19 48 48 0 CCDC183,missense_variant,p.Arg237Trp,ENST00000338005,NM_001039374.4;RABL6,upstream_gene_variant,,ENST00000311502,NM_024718.4;RABL6,upstream_gene_variant,,ENST00000357466,;RABL6,upstream_gene_variant,,ENST00000371663,NM_001173988.1;RABL6,upstream_gene_variant,,ENST00000371671,NM_001173989.2;CCDC183-AS1,non_coding_transcript_exon_variant,,ENST00000414656,;CCDC183,non_coding_transcript_exon_variant,,ENST00000371682,;CCDC183,upstream_gene_variant,,ENST00000484858,;CCDC183,upstream_gene_variant,,ENST00000496839,;CCDC183,missense_variant,p.Pro236Leu,ENST00000479371,;AL355987.4,non_coding_transcript_exon_variant,,ENST00000415992,;CCDC183,non_coding_transcript_exon_variant,,ENST00000430612,;CCDC183,non_coding_transcript_exon_variant,,ENST00000481601,;AL355987.2,intron_variant,,ENST00000471502,;AL355987.3,downstream_gene_variant,,ENST00000456614,;AL355987.4,upstream_gene_variant,,ENST00000459985,;RABL6,upstream_gene_variant,,ENST00000484471,;CCDC183,downstream_gene_variant,,ENST00000609471,; T ENSG00000213213 ENST00000338005 Transcript missense_variant 744/1671 709/1605 237/534 R/W Cgg/Tgg 1 1 CCDC183 HGNC HGNC:28236 protein_coding YES CCDS43906.1 ENSP00000338013 Q5T5S1 UPI00015E02CD NM_001039374.4 deleterious(0) probably_damaging(0.991) 7/14 hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF16 MODERATE 1 SNV 1 PASS CCG . . 136804544 WDFY4 . GRCh38 chr10 48970287 48970287 + Missense_Mutation SNP C C A novel 7316-880 BS_RZHVM2QD C C c.8926C>A p.Gln2976Lys p.Q2976K ENST00000325239 57/62 72 54 17 50 49 1 WDFY4,missense_variant,p.Gln2976Lys,ENST00000325239,NM_020945.1;WDFY4,splice_region_variant,,ENST00000465910,;WDFY4,splice_region_variant,,ENST00000497480,; A ENSG00000128815 ENST00000325239 Transcript missense_variant,splice_region_variant 9069/10079 8926/9555 2976/3184 Q/K Cag/Aag 1 1 WDFY4 HGNC HGNC:29323 protein_coding YES CCDS44385.1 ENSP00000320563 Q6ZS81 UPI000176ADB8 NM_020945.1 tolerated(0.1) possibly_damaging(0.892) 57/62 Gene3D:2.130.10.10,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85,SMART_domains:SM00320,Superfamily_domains:SSF50978 MODERATE 1 SNV 5 PASS GCA . . 48970287 KRTAP5-3 . GRCh38 chr11 1607926 1607926 + Missense_Mutation SNP T T A rs75371407 7316-880 BS_RZHVM2QD T T c.460A>T p.Ser154Cys p.S154C ENST00000399685 1/1 83 62 12 56 51 1 KRTAP5-3,missense_variant,p.Ser154Cys,ENST00000399685,NM_001012708.2;,regulatory_region_variant,,ENSR00000035812,; A ENSG00000196224 ENST00000399685 Transcript missense_variant 538/899 460/717 154/238 S/C Agc/Tgc rs75371407,COSM3747868 1 -1 KRTAP5-3 HGNC HGNC:23598 protein_coding YES CCDS41591.1 ENSP00000382592 Q6L8H2 UPI000037605E NM_001012708.2 tolerated(0.12) benign(0.001) 1/1 hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF134,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 0,1 PASS CTG . . 1607926 TAS2R31 . GRCh38 chr12 11031194 11031194 + Missense_Mutation SNP G G C rs760444623 7316-880 BS_RZHVM2QD G G c.142C>G p.Leu48Val p.L48V ENST00000390675 1/1 77 65 8 53 53 0 TAS2R31,missense_variant,p.Leu48Val,ENST00000390675,NM_176885.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000256436 ENST00000390675 Transcript missense_variant 214/1021 142/930 48/309 L/V Ctc/Gtc rs760444623,COSM3746271 1 -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538 UPI000000D820 NM_176885.2 deleterious(0.05) possibly_damaging(0.558) 1/1 Transmembrane_helices:TMhelix,cd15027,hmmpanther:PTHR11394:SF79,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS AGA . . 0.002066 0.0003228 0.0003467 0.0004938 0.0003657 0.0005431 0.004212 0.001326 0.000656 11031194 TAS2R43 . GRCh38 chr12 11092088 11092088 + Missense_Mutation SNP G G C rs113197337 7316-880 BS_RZHVM2QD G G c.142C>G p.Leu48Val p.L48V ENST00000531678 1/1 67 46 21 25 23 1 TAS2R43,missense_variant,p.Leu48Val,ENST00000531678,NM_176884.2;AC018630.2,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000541977,;PRH1,intron_variant,,ENST00000546265,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000255374 ENST00000531678 Transcript missense_variant 226/1027 142/930 48/309 L/V Ctc/Gtc rs113197337,COSM3811039,COSM3811038 1 -1 TAS2R43 HGNC HGNC:18875 protein_coding YES CCDS53749.1 ENSP00000431719 P59537 UPI000000D81F NM_176884.2 deleterious(0.05) benign(0.307) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF127,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15027 0,1,1 MODERATE SNV 0,1,1 PASS AGA . . 0.1231 0.06432 0.0654 0.02506 0.03754 0.3554 0.1769 0.09247 0.01951 11092088 ADAMTS20 . GRCh38 chr12 43376091 43376091 + Missense_Mutation SNP C C A novel 7316-880 BS_RZHVM2QD C C c.5278G>T p.Gly1760Cys p.G1760C ENST00000389420 35/39 75 47 28 30 30 0 ADAMTS20,missense_variant,p.Gly1760Cys,ENST00000389420,NM_025003.3; A ENSG00000173157 ENST00000389420 Transcript missense_variant 5278/6076 5278/5733 1760/1910 G/C Ggt/Tgt 1 -1 ADAMTS20 HGNC HGNC:17178 protein_coding YES CCDS31778.2 ENSP00000374071 P59510 UPI00004565F4 NM_025003.3 deleterious(0) probably_damaging(0.924) 35/39 PROSITE_profiles:PS51046,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF08685 MODERATE 1 SNV 1 PASS CCT . . 43376091 OR6C68 . GRCh38 chr12 55492664 55492664 + Missense_Mutation SNP T T C novel 7316-880 BS_RZHVM2QD T T c.287T>C p.Val96Ala p.V96A ENST00000548615 1/1 80 54 26 39 39 0 OR6C68,missense_variant,p.Val96Ala,ENST00000548615,NM_001005519.2;AC122685.1,intron_variant,,ENST00000554049,;AC122685.1,intron_variant,,ENST00000555138,;AC122685.1,intron_variant,,ENST00000556750,; C ENSG00000205327 ENST00000548615 Transcript missense_variant 287/939 287/939 96/312 V/A gTc/gCc 1 1 OR6C68 HGNC HGNC:31297 protein_coding YES CCDS31826.2 ENSP00000448811 A6NDL8 UPI00015E1642 NM_001005519.2 tolerated_low_confidence(0.94) benign(0.003) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15912,hmmpanther:PTHR26454:SF19,hmmpanther:PTHR26454,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245 MODERATE SNV PASS GTC . . 55492664 AC027288.2 . GRCh38 chr12 79500245 79500245 + Splice_Region DEL T T - rs370420034 7316-880 BS_RZHVM2QD T T n.120-3del ENST00000553028 40 15 11 17 11 0 AC027288.3,intron_variant,,ENST00000549527,;AC027288.3,intron_variant,,ENST00000553165,;AC027288.2,splice_region_variant,,ENST00000553028,; - ENSG00000257604 ENST00000553028 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs370420034 1 -1 AC027288.2 Clone_based_ensembl_gene processed_pseudogene YES 1/1 LOW 1 deletion PASS CATT . . 79500244 AC073578.2 . GRCh38 chr12 131447856 131447857 + Splice_Region INS - - CC rs141433734 7316-880 BS_RZHVM2QD - - n.268+4_268+5dup ENST00000618927 80 67 7 47 45 0 AC073578.2,splice_region_variant,,ENST00000618927,; CC ENSG00000275232 ENST00000618927 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs141433734 1 -1 AC073578.2 Clone_based_ensembl_gene lincRNA YES 4/4 LOW 1 insertion 4 PASS CAC . . 131447856 TRAV1-1 . GRCh38 chr14 21622468 21622468 + Missense_Mutation SNP G G A rs200370511 7316-880 BS_RZHVM2QD G G c.227G>A p.Arg76His p.R76H ENST00000542354 2/2 66 38 28 40 40 0 TRAV1-1,missense_variant,p.Arg76His,ENST00000542354,; A ENSG00000255569 ENST00000542354 Transcript missense_variant 293/392 227/326 76/108 R/H cGt/cAt rs200370511 1 1 TRAV1-1 HGNC HGNC:12101 TR_V_gene YES ENSP00000446309 A0A0B4J248 UPI000011C6FF tolerated(0.42) benign(0.009) 2/2 0.0002 0.0008 0.00052 0.0001211 MODERATE 1 SNV PASS CGT . . 0.0001032 0.0006676 5.973e-05 0.000102 0.0002347 4.609e-05 0.0001868 3.253e-05 21622468 DNAH17 . GRCh38 chr17 78574742 78574742 + Missense_Mutation SNP C C T rs749819405 7316-880 BS_RZHVM2QD C C c.316G>A p.Val106Met p.V106M ENST00000389840 2/81 64 40 23 46 46 0 DNAH17,missense_variant,p.Val106Met,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Val106Met,ENST00000585328,;DNAH17,upstream_gene_variant,,ENST00000589793,; T ENSG00000187775 ENST00000389840 Transcript missense_variant 441/13723 316/13389 106/4462 V/M Gtg/Atg rs749819405 1 -1 DNAH17 HGNC HGNC:2946 protein_coding YES ENSP00000374490 Q9UFH2 UPI0001B25601 NM_173628.3 deleterious(0.04) possibly_damaging(0.488) 2/81 hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257 MODERATE 1 SNV 5 PASS ACG . . 2.04e-05 5.8e-05 2.698e-05 3.276e-05 78574742 SMARCA4 . GRCh38 chr19 11021846 11021846 + Missense_Mutation SNP C C T rs778175819 7316-880 BS_RZHVM2QD C C c.2738C>T p.Pro913Leu p.P913L ENST00000344626 19/35 96 61 34 41 41 0 SMARCA4,missense_variant,p.Pro913Leu,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Pro913Leu,ENST00000644737,;SMARCA4,missense_variant,p.Pro913Leu,ENST00000646693,NM_001128849.1;SMARCA4,missense_variant,p.Pro913Leu,ENST00000590574,;SMARCA4,missense_variant,p.Pro913Leu,ENST00000642726,;SMARCA4,missense_variant,p.Pro913Leu,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Pro913Leu,ENST00000642628,;SMARCA4,missense_variant,p.Pro913Leu,ENST00000643549,;SMARCA4,missense_variant,p.Pro913Leu,ENST00000646510,;SMARCA4,missense_variant,p.Pro913Leu,ENST00000646484,NM_001128847.1;SMARCA4,missense_variant,p.Pro913Leu,ENST00000643296,NM_001128845.1;SMARCA4,missense_variant,p.Pro913Leu,ENST00000647230,;SMARCA4,missense_variant,p.Pro977Leu,ENST00000413806,;SMARCA4,missense_variant,p.Pro913Leu,ENST00000450717,;SMARCA4,missense_variant,p.Pro913Leu,ENST00000645460,NM_001128848.1;SMARCA4,missense_variant,p.Pro913Leu,ENST00000444061,;SMARCA4,missense_variant,p.Pro871Leu,ENST00000591545,;SMARCA4,missense_variant,p.Pro913Leu,ENST00000589677,NM_001128846.1;SMARCA4,missense_variant,p.Pro913Leu,ENST00000541122,;SMARCA4,missense_variant,p.Pro718Leu,ENST00000643995,;SMARCA4,missense_variant,p.Pro462Leu,ENST00000644963,;SMARCA4,missense_variant,p.Pro432Leu,ENST00000643208,;SMARCA4,missense_variant,p.Pro489Leu,ENST00000644065,;SMARCA4,missense_variant,p.Pro408Leu,ENST00000642350,;SMARCA4,missense_variant,p.Pro347Leu,ENST00000646746,;SMARCA4,missense_variant,p.Pro365Leu,ENST00000643857,;SMARCA4,missense_variant,p.Pro364Leu,ENST00000647268,;SMARCA4,missense_variant,p.Pro362Leu,ENST00000646183,;SMARCA4,missense_variant,p.Pro342Leu,ENST00000643534,;SMARCA4,missense_variant,p.Pro34Leu,ENST00000642508,;SMARCA4,missense_variant,p.Pro191Leu,ENST00000646513,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000586122,;SMARCA4,missense_variant,p.Pro504Leu,ENST00000644327,;SMARCA4,missense_variant,p.Pro409Leu,ENST00000645061,;SMARCA4,missense_variant,p.Pro201Leu,ENST00000645648,;SMARCA4,missense_variant,p.Pro74Leu,ENST00000646236,;SMARCA4,3_prime_UTR_variant,,ENST00000644290,;SMARCA4,3_prime_UTR_variant,,ENST00000646593,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000644267,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000587988,; T ENSG00000127616 ENST00000344626 Transcript missense_variant 3119/5791 2738/4944 913/1647 P/L cCg/cTg rs778175819,COSM474148,COSM4408938,COSM4408937,COSM1136098 1 1 SMARCA4 HGNC HGNC:11100 protein_coding YES CCDS12253.1 ENSP00000343896 P51532 A7E2E1 UPI000006F973 NM_003072.3 deleterious(0.01) probably_damaging(0.998) 19/35 Gene3D:3.40.50.10810,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,SMART_domains:SM00487,Superfamily_domains:SSF52540,cd00046 0,1,1,1,1 MODERATE 1 SNV 1 0,1,1,1,1 1 PASS CCG . . 4.068e-06 8.977e-06 11021846 KMT2B . GRCh38 chr19 35729198 35729199 + Frame_Shift_Del DEL AC AC - novel 7316-880 BS_RZHVM2QD AC AC c.4823_4824del p.His1608ArgfsTer69 p.H1608Rfs*69 ENST00000420124 22/37 72 45 22 56 55 0 KMT2B,frameshift_variant,p.His1608ArgfsTer69,ENST00000420124,NM_014727.2;KMT2B,upstream_gene_variant,,ENST00000592092,; - ENSG00000272333 ENST00000420124 Transcript frameshift_variant 4819-4820/8469 4819-4820/8148 1607/2715 T/X ACa/a 1 1 KMT2B HGNC HGNC:15840 protein_coding YES CCDS46055.1 ENSP00000398837 Q9UMN6 UPI00001376B5 NM_014727.2 22/37 PIRSF_domain:PIRSF010354,PROSITE_profiles:PS51805,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF341,cd15694 HIGH 1 deletion 1 4 1 PASS GGACA . . 35729197 DEDD2 . GRCh38 chr19 42199593 42199593 + Missense_Mutation SNP G G A rs1163243041 7316-880 BS_RZHVM2QD G G c.826C>T p.Arg276Trp p.R276W ENST00000595337 5/5 63 39 24 49 49 0 DEDD2,missense_variant,p.Arg276Trp,ENST00000595337,NM_001270614.1;DEDD2,missense_variant,p.Arg271Trp,ENST00000336034,NM_001270615.1;DEDD2,missense_variant,p.Arg276Trp,ENST00000596251,NM_133328.3;POU2F2,upstream_gene_variant,,ENST00000532176,;DEDD2,downstream_gene_variant,,ENST00000598727,;DEDD2,non_coding_transcript_exon_variant,,ENST00000593804,;DEDD2,non_coding_transcript_exon_variant,,ENST00000601135,;DEDD2,non_coding_transcript_exon_variant,,ENST00000598415,;DEDD2,downstream_gene_variant,,ENST00000593561,;DEDD2,downstream_gene_variant,,ENST00000598090,;DEDD2,downstream_gene_variant,,ENST00000600559,;DEDD2,downstream_gene_variant,,ENST00000602075,;DEDD2,downstream_gene_variant,,ENST00000602201,;,regulatory_region_variant,,ENSR00000109774,; A ENSG00000160570 ENST00000595337 Transcript missense_variant 914/1894 826/981 276/326 R/W Cgg/Tgg rs1163243041,COSM1203306 1 -1 DEDD2 HGNC HGNC:24450 protein_coding YES CCDS12597.1 ENSP00000470082 Q8WXF8 UPI0000046657 NM_001270614.1 deleterious(0) possibly_damaging(0.756) 5/5 hmmpanther:PTHR15205,hmmpanther:PTHR15205:SF1 0,1 MODERATE 1 SNV 3 0,1 PASS CGC . . 42199593 SIGLEC11 . GRCh38 chr19 49960618 49960618 + Missense_Mutation SNP G G A rs139694640 7316-880 BS_RZHVM2QD G G c.394C>T p.Arg132Trp p.R132W ENST00000447370 2/11 36 26 9 29 28 0 SIGLEC11,missense_variant,p.Arg132Trp,ENST00000447370,NM_052884.2;SIGLEC11,missense_variant,p.Arg132Trp,ENST00000426971,NM_001135163.1;SIGLEC11,upstream_gene_variant,,ENST00000426296,;AC011452.1,upstream_gene_variant,,ENST00000451973,;,regulatory_region_variant,,ENSR00000110992,; A ENSG00000161640 ENST00000447370 Transcript missense_variant 485/3173 394/2097 132/698 R/W Cgg/Tgg rs139694640,COSM3422998 1 -1 SIGLEC11 HGNC HGNC:15622 protein_coding YES CCDS12790.2 ENSP00000412361 Q96RL6 UPI00018131F5 NM_052884.2 deleterious(0) possibly_damaging(0.523) 2/11 Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF102,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05712 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 0.0008216 0.01448 0.0002395 4.481e-05 49960618 LILRB2 . GRCh38 chr19 54278883 54278883 + Missense_Mutation SNP C C G rs370505111 7316-880 BS_RZHVM2QD C C c.884G>C p.Arg295Thr p.R295T ENST00000391749 6/14 62 55 6 45 45 0 LILRB2,missense_variant,p.Arg295Thr,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Arg179Thr,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Arg295Thr,ENST00000314446,NM_001080978.3;LILRB2,missense_variant,p.Arg295Thr,ENST00000391749,NM_005874.4;LILRB2,missense_variant,p.Arg295Thr,ENST00000391746,NM_001278406.2,NM_001278405.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,; G ENSG00000131042 ENST00000391749 Transcript missense_variant 1156/2286 884/1797 295/598 R/T aGa/aCa rs370505111 1 -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423 UPI00034F23A2 NM_005874.4 tolerated(0.09) possibly_damaging(0.875) 6/14 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 0.000227 MODERATE 1 SNV 1 PASS TCT . . 7.722e-05 0.0002615 0.0001788 0.000116 4.485e-05 2.689e-05 9.747e-05 54278883 SEMG1 . GRCh38 chr20 45208366 45208366 + Nonsense_Mutation SNP C C T rs183367221 7316-880 BS_RZHVM2QD C C c.1069C>T p.Arg357Ter p.R357* ENST00000372781 2/3 66 42 23 50 49 1 SEMG1,stop_gained,p.Arg357Ter,ENST00000372781,NM_003007.4; T ENSG00000124233 ENST00000372781 Transcript stop_gained 1126/1662 1069/1389 357/462 R/* Cga/Tga rs183367221,COSM443888 1 1 SEMG1 HGNC HGNC:10742 protein_coding YES CCDS13345.1 ENSP00000361867 P04279 UPI0000135844 NM_003007.4 2/3 Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4,mobidb-lite 0.0004 0.002 0,1 HIGH 1 SNV 1 0,1 PASS ACG . . 0.000114 2.988e-05 0.000204 0.0006963 0.0001167 45208366 VPREB1 . GRCh38 chr22 22244996 22244996 + Missense_Mutation SNP C C A novel 7316-880 BS_RZHVM2QD C C c.97C>A p.Leu33Ile p.L33I ENST00000403807 2/2 68 41 25 31 31 0 VPREB1,missense_variant,p.Leu33Ile,ENST00000403807,NM_007128.3;VPREB1,missense_variant,p.Leu32Ile,ENST00000302273,NM_001303509.1; A ENSG00000169575 ENST00000403807 Transcript missense_variant 236/755 97/438 33/145 L/I Ctt/Att 1 1 VPREB1 HGNC HGNC:12709 protein_coding YES CCDS13798.1 ENSP00000385361 P12018 UPI0000138CF8 NM_007128.3 tolerated(0.52) benign(0.438) 2/2 Gene3D:2.60.40.10,PDB-ENSP_mappings:2h32.A,PDB-ENSP_mappings:2h3n.A,PDB-ENSP_mappings:2h3n.C,PDB-ENSP_mappings:3bj9.1,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF11,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CCT . . 22244996 BCOR . GRCh38 chrX 40073539 40073539 + Frame_Shift_Del DEL C C - novel 7316-880 BS_RZHVM2QD C C c.1807del p.Ala603ProfsTer66 p.A603Pfs*66 ENST00000378444 4/15 50 28 20 55 55 0 BCOR,frameshift_variant,p.Ala603ProfsTer66,ENST00000342274,NM_001123383.1;BCOR,frameshift_variant,p.Ala603ProfsTer66,ENST00000378444,NM_001123385.1;BCOR,frameshift_variant,p.Ala603ProfsTer66,ENST00000378455,NM_001123384.1;BCOR,frameshift_variant,p.Ala603ProfsTer66,ENST00000397354,NM_017745.5;BCOR,frameshift_variant,p.Ala603ProfsTer66,ENST00000406200,;BCOR,frameshift_variant,p.Ala10ProfsTer66,ENST00000615339,;BCOR,downstream_gene_variant,,ENST00000412952,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,; - ENSG00000183337 ENST00000378444 Transcript frameshift_variant 2036/6358 1807/5268 603/1755 A/X Gcc/cc 1 -1 BCOR HGNC HGNC:20893 protein_coding YES CCDS48093.1 ENSP00000367705 Q6W2J9 UPI00002318CF NM_001123385.1 4/15 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24117:SF8,hmmpanther:PTHR24117 HIGH 1 deletion 1 1 PASS GGCC . . 40073538 KDM6A . GRCh38 chrX 45079258 45079259 + Frame_Shift_Del DEL AA AA - novel 7316-880 BS_RZHVM2QD AA AA c.3052_3053del p.Lys1018GlufsTer6 p.K1018Efs*6 ENST00000377967 20/29 70 36 28 50 49 0 KDM6A,frameshift_variant,p.Lys1046GlufsTer6,ENST00000611820,NM_001291415.1;KDM6A,frameshift_variant,p.Lys1001GlufsTer6,ENST00000382899,NM_001291416.1;KDM6A,frameshift_variant,p.Lys967GlufsTer6,ENST00000543216,;KDM6A,frameshift_variant,p.Lys949GlufsTer6,ENST00000536777,NM_001291417.1,NM_001291418.1;KDM6A,frameshift_variant,p.Lys1018GlufsTer6,ENST00000377967,NM_021140.3;KDM6A,frameshift_variant,p.Lys661GlufsTer6,ENST00000433797,;KDM6A,frameshift_variant,p.Lys616GlufsTer6,ENST00000414389,NM_001291421.1;KDM6A,intron_variant,,ENST00000621147,;KDM6A,upstream_gene_variant,,ENST00000484732,;KDM6A,upstream_gene_variant,,ENST00000485072,;,regulatory_region_variant,,ENSR00000246212,; - ENSG00000147050 ENST00000377967 Transcript frameshift_variant 3092-3093/5438 3051-3052/4206 1017-1018/1401 TK/TX acAAag/acag 1 1 KDM6A HGNC HGNC:12637 protein_coding YES CCDS14265.1 ENSP00000367203 O15550 UPI000013DA92 NM_021140.3 20/29 Gene3D:2.60.120.650,PDB-ENSP_mappings:3avr.A,PDB-ENSP_mappings:3avs.A,hmmpanther:PTHR14017,hmmpanther:PTHR14017:SF9,Superfamily_domains:SSF51197 HIGH 1 deletion 1 1 1 PASS ACAAA . . 45079257 GRIA3 . GRCh38 chrX 123185837 123185837 + Missense_Mutation SNP C C A 7316-880 BS_RZHVM2QD C C c.115C>A p.Leu39Ile p.L39I ENST00000622768 2/16 70 46 24 28 28 0 GRIA3,missense_variant,p.Leu39Ile,ENST00000622768,NM_000828.4;GRIA3,missense_variant,p.Leu39Ile,ENST00000620443,NM_007325.4;GRIA3,missense_variant,p.Leu39Ile,ENST00000620581,;GRIA3,missense_variant,p.Leu39Ile,ENST00000541091,;GRIA3,missense_variant,p.Leu39Ile,ENST00000611689,NM_001256743.1;GRIA3,missense_variant,p.Leu39Ile,ENST00000616590,;GRIA3,non_coding_transcript_exon_variant,,ENST00000479118,;,regulatory_region_variant,,ENSR00000248511,;,regulatory_region_variant,,ENSR00000248512,; A ENSG00000125675 ENST00000622768 Transcript missense_variant 408/5173 115/2685 39/894 L/I Ctt/Att COSM5988815,COSM5988814,COSM5988813,COSM5988812 1 1 GRIA3 HGNC HGNC:4573 protein_coding YES CCDS14604.1 ENSP00000481554 P42263 UPI000013D503 NM_000828.4 tolerated(0.65) probably_damaging(0.916) 2/16 cd06387,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151,Superfamily_domains:SSF53822 1,1,1,1 MODERATE 1 SNV 5 1,1,1,1 1 PASS ACT . . 123185837 INPP5B . GRCh38 chr1 37878289 37878289 + Missense_Mutation SNP T T C novel 7316-154 BS_MKSMSB6J T T c.1576A>G p.Ile526Val p.I526V ENST00000373024 16/24 74 68 6 31 31 0 INPP5B,missense_variant,p.Ile606Val,ENST00000373023,;INPP5B,missense_variant,p.Ile526Val,ENST00000458109,;INPP5B,missense_variant,p.Ile362Val,ENST00000373027,NM_001297434.1;INPP5B,missense_variant,p.Ile606Val,ENST00000373026,;INPP5B,missense_variant,p.Ile526Val,ENST00000373024,NM_005540.2;INPP5B,upstream_gene_variant,,ENST00000474758,; C ENSG00000204084 ENST00000373024 Transcript missense_variant 1664/3060 1576/2742 526/913 I/V Att/Gtt 1 -1 INPP5B HGNC HGNC:6077 protein_coding YES CCDS41306.1 ENSP00000362115 P32019 UPI0000458AD7 NM_005540.2 tolerated(0.32) benign(0.006) 16/24 Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF163,SMART_domains:SM00128,Superfamily_domains:SSF56219,cd09093 MODERATE 1 SNV 1 PASS ATC . . 37878289 YBX1 . GRCh38 chr1 42682641 42682641 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.76A>C p.Lys26Gln p.K26Q ENST00000321358 1/8 76 60 12 40 40 0 YBX1,missense_variant,p.Lys26Gln,ENST00000321358,NM_004559.4;YBX1,missense_variant,p.Lys26Gln,ENST00000332220,;YBX1,upstream_gene_variant,,ENST00000436427,;AC098484.2,downstream_gene_variant,,ENST00000414339,;YBX1,upstream_gene_variant,,ENST00000467957,;,regulatory_region_variant,,ENSR00000005492,; C ENSG00000065978 ENST00000321358 Transcript missense_variant 215/1514 76/975 26/324 K/Q Aag/Cag 1 1 YBX1 HGNC HGNC:8014 protein_coding YES CCDS470.1 ENSP00000361626 P67809 UPI0000001C6B NM_004559.4 tolerated(0.07) benign(0) 1/8 hmmpanther:PTHR11544,hmmpanther:PTHR11544:SF68,mobidb-lite MODERATE 1 SNV 1 PASS CAA . . 42682641 ZSWIM5 . GRCh38 chr1 45205813 45205813 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.538T>G p.Phe180Val p.F180V ENST00000359600 1/14 39 33 6 25 25 0 ZSWIM5,missense_variant,p.Phe180Val,ENST00000359600,NM_020883.1;ZSWIM5,intron_variant,,ENST00000464588,;,regulatory_region_variant,,ENSR00000005837,; C ENSG00000162415 ENST00000359600 Transcript missense_variant 744/5819 538/3558 180/1185 F/V Ttc/Gtc 1 -1 ZSWIM5 HGNC HGNC:29299 protein_coding YES CCDS41319.1 ENSP00000352614 Q9P217 UPI00001C1D76 NM_020883.1 deleterious(0) possibly_damaging(0.557) 1/14 hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF2 MODERATE 1 SNV 1 PASS AAC . . 45205813 ZFYVE9 . GRCh38 chr1 52295983 52295983 + Splice_Region SNP T T C novel 7316-154 BS_MKSMSB6J T T c.3333+6T>C ENST00000287727 62 56 5 57 56 0 ZFYVE9,splice_region_variant,,ENST00000287727,NM_004799.3;ZFYVE9,splice_region_variant,,ENST00000357206,NM_007324.3;ZFYVE9,splice_region_variant,,ENST00000371591,;ZFYVE9,splice_region_variant,,ENST00000469134,; C ENSG00000157077 ENST00000287727 Transcript splice_region_variant,intron_variant 1 1 ZFYVE9 HGNC HGNC:6775 protein_coding YES CCDS563.1 ENSP00000287727 O95405 UPI0000001620 NM_004799.3 12/18 LOW 1 SNV 5 PASS GTT . . 52295983 RPAP2 . GRCh38 chr1 92299075 92299075 + Translation_Start_Site SNP T T G novel 7316-154 BS_MKSMSB6J T T c.2T>G p.Met1? p.M1? ENST00000610020 1/13 77 62 13 36 35 0 RPAP2,start_lost,p.Met1?,ENST00000610020,NM_024813.2;GLMN,upstream_gene_variant,,ENST00000370360,NM_001319683.1,NM_053274.2;RPAP2,upstream_gene_variant,,ENST00000484158,;GLMN,upstream_gene_variant,,ENST00000487911,;GLMN,upstream_gene_variant,,ENST00000495106,;,regulatory_region_variant,,ENSR00000009821,; G ENSG00000122484 ENST00000610020 Transcript start_lost 111/16993 2/1839 1/612 M/R aTg/aGg 1 1 RPAP2 HGNC HGNC:25791 protein_coding YES CCDS740.1 ENSP00000476948 Q8IXW5 UPI0000074323 NM_024813.2 deleterious_low_confidence(0) probably_damaging(0.944) 1/13 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 92299075 GCLM . GRCh38 chr1 93909162 93909162 + Translation_Start_Site SNP A A C novel 7316-154 BS_MKSMSB6J A A c.2T>G p.Met1? p.M1? ENST00000370238 1/7 76 68 7 36 36 0 GCLM,start_lost,p.Met1?,ENST00000370238,NM_002061.3;GCLM,start_lost,p.Met1?,ENST00000615724,NM_001308253.1;GCLM,upstream_gene_variant,,ENST00000462183,;GCLM,upstream_gene_variant,,ENST00000467772,;,regulatory_region_variant,,ENSR00000010027,; C ENSG00000023909 ENST00000370238 Transcript start_lost 249/4857 2/825 1/274 M/R aTg/aGg 1 -1 GCLM HGNC HGNC:4312 protein_coding YES CCDS746.1 ENSP00000359258 P48507 UPI000000D9B9 NM_002061.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/7 HIGH 1 SNV 1 1 PASS CAT . . 93909162 ALX3 . GRCh38 chr1 110070522 110070522 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.91A>C p.Thr31Pro p.T31P ENST00000369792 1/4 84 71 10 29 29 0 ALX3,missense_variant,p.Thr31Pro,ENST00000369792,NM_006492.2;STRIP1,intron_variant,,ENST00000473429,; G ENSG00000156150 ENST00000369792 Transcript missense_variant 179/1859 91/1032 31/343 T/P Acc/Ccc 1 -1 ALX3 HGNC HGNC:449 protein_coding YES CCDS819.1 ENSP00000358807 O95076 UPI000013DE5F NM_006492.2 deleterious_low_confidence(0.03) benign(0) 1/4 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTT . . 110070522 TCHH . GRCh38 chr1 152111880 152111880 + Missense_Mutation SNP C C T rs757600930 7316-154 BS_MKSMSB6J C C c.1337G>A p.Arg446Gln p.R446Q ENST00000614923 3/3 66 51 6 30 29 0 TCHH,missense_variant,p.Arg446Gln,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg446Gln,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 1432/6995 1337/5832 446/1943 R/Q cGg/cAg rs757600930,COSM5956933 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 benign(0.037) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,Gene3D:1.10.238.10 0,1 MODERATE 1 SNV 5 0,1 1 PASS CCG . . 152111880 FLG2 . GRCh38 chr1 152355102 152355102 + Missense_Mutation SNP C C G rs12734528 7316-154 BS_MKSMSB6J C C c.2684G>C p.Ser895Thr p.S895T ENST00000388718 3/3 81 66 12 46 44 1 FLG2,missense_variant,p.Ser895Thr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 2757/9124 2684/7176 895/2391 S/T aGt/aCt rs12734528,COSM6237406 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.27) benign(0.102) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0.0489 0.0008 0.0821 0.119 0.0089 0.0593 0.0002275 0.003055 0,1 MODERATE SNV 5 0,1 1 PASS ACT . . 4.21e-06 6.557e-05 152355102 MTX1 . GRCh38 chr1 155209162 155209162 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.358A>C p.Thr120Pro p.T120P ENST00000368376 1/8 95 79 16 38 38 0 MTX1,missense_variant,p.Thr120Pro,ENST00000368376,NM_002455.4;MTX1,missense_variant,p.Thr120Pro,ENST00000316721,NM_198883.3;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;MTX1,upstream_gene_variant,,ENST00000609421,;AC234582.1,downstream_gene_variant,,ENST00000422665,;AC234582.1,downstream_gene_variant,,ENST00000430312,;AC234582.1,downstream_gene_variant,,ENST00000453136,;AC234582.2,downstream_gene_variant,,ENST00000455788,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000486869,;MTX1,upstream_gene_variant,,ENST00000495589,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;MTX1,upstream_gene_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000486197,;MTX1,upstream_gene_variant,,ENST00000495492,;,regulatory_region_variant,,ENSR00000014044,; C ENSG00000173171 ENST00000368376 Transcript missense_variant 464/1632 358/1401 120/466 T/P Acg/Ccg 1 1 MTX1 HGNC HGNC:7504 protein_coding YES CCDS1100.1 ENSP00000357360 Q13505 UPI0000EE6A72 NM_002455.4 tolerated_low_confidence(0.15) benign(0.003) 1/8 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 155209162 CACNA1E . GRCh38 chr1 181413575 181413575 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.429A>C p.Glu143Asp p.E143D ENST00000524607 2/12 98 86 10 35 35 0 CACNA1E,missense_variant,p.Glu143Asp,ENST00000524607,; C ENSG00000198216 ENST00000524607 Transcript missense_variant 877/2198 429/1750 143/583 E/D gaA/gaC 1 1 CACNA1E HGNC HGNC:1392 protein_coding ENSP00000432038 E9PIE8 UPI000D1980C4 deleterious_low_confidence(0.01) probably_damaging(0.99) 2/12 MODERATE 1 SNV 5 PASS AAT . . 181413575 IGFN1 . GRCh38 chr1 201210801 201210801 + Nonsense_Mutation SNP A A T 7316-154 BS_MKSMSB6J A A c.5908A>T p.Lys1970Ter p.K1970* ENST00000335211 12/24 33 22 5 19 17 0 IGFN1,stop_gained,p.Lys1970Ter,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; T ENSG00000163395 ENST00000335211 Transcript stop_gained 6038/11810 5908/11127 1970/3708 K/* Aag/Tag COSM5956560 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 12/24 mobidb-lite 1 HIGH 1 SNV 5 1 PASS TAA . . 201210801 WDR26 . GRCh38 chr1 224434095 224434095 + Missense_Mutation SNP T T G 7316-154 BS_MKSMSB6J T T c.11A>C p.Asn4Thr p.N4T ENST00000414423 1/14 76 65 8 28 27 0 WDR26,missense_variant,p.Asn4Thr,ENST00000414423,NM_001115113.2,NM_025160.6;WDR26,intron_variant,,ENST00000445239,;CNIH3,upstream_gene_variant,,ENST00000471578,;WDR26,upstream_gene_variant,,ENST00000477425,;CNIH3,upstream_gene_variant,,ENST00000483512,;CNIH3,upstream_gene_variant,,ENST00000498126,;WDR26,upstream_gene_variant,,ENST00000443112,;WDR26,upstream_gene_variant,,ENST00000479778,;WDR26,upstream_gene_variant,,ENST00000486652,;WDR26,upstream_gene_variant,,ENST00000489825,;,regulatory_region_variant,,ENSR00000020875,; G ENSG00000162923 ENST00000414423 Transcript missense_variant 205/6872 11/1986 4/661 N/T aAt/aCt COSM6436700,COSM6436699 1 -1 WDR26 HGNC HGNC:21208 protein_coding YES CCDS31037.2 ENSP00000408108 Q9H7D7 UPI0000203FB7 NM_001115113.2,NM_025160.6 deleterious_low_confidence(0) unknown(0) 1/14 mobidb-lite 1,1 MODERATE 1 SNV 1 1,1 1 PASS ATT . . 224434095 MIXL1 . GRCh38 chr1 226223911 226223911 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.230A>C p.Lys77Thr p.K77T ENST00000542034 1/2 94 83 10 33 33 0 MIXL1,missense_variant,p.Lys77Thr,ENST00000366810,NM_031944.2;MIXL1,missense_variant,p.Lys77Thr,ENST00000542034,NM_001282402.1;MIXL1,upstream_gene_variant,,ENST00000557734,;,regulatory_region_variant,,ENSR00000021085,; C ENSG00000185155 ENST00000542034 Transcript missense_variant 294/839 230/723 77/240 K/T aAa/aCa 1 1 MIXL1 HGNC HGNC:13363 protein_coding YES CCDS60432.1 ENSP00000442439 Q9H2W2 UPI000189A780 NM_001282402.1 tolerated(0.41) benign(0.007) 1/2 hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF276,Superfamily_domains:SSF46689,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAA . . 226223911 FMN2 . GRCh38 chr1 240207667 240207667 + Missense_Mutation SNP C C G rs200503778 7316-154 BS_MKSMSB6J C C c.2855C>G p.Ala952Gly p.A952G ENST00000319653 5/18 52 39 10 30 26 0 FMN2,missense_variant,p.Ala952Gly,ENST00000319653,NM_020066.4,NM_001305424.1;FMN2,downstream_gene_variant,,ENST00000447095,; G ENSG00000155816 ENST00000319653 Transcript missense_variant 3085/6434 2855/5169 952/1722 A/G gCa/gGa rs200503778,COSM2049412 1 1 FMN2 HGNC HGNC:14074 protein_coding YES CCDS31069.2 ENSP00000318884 Q9NZ56 UPI00015FA087 NM_020066.4,NM_001305424.1 tolerated_low_confidence(0.92) benign(0) 5/18 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13037,hmmpanther:PTHR13037:SF16,Pfam_domain:PF06346,SMART_domains:SM00498,Prints_domain:PR01217 likely_benign 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCA . . 0.005188 0.00291 0.002164 0.001881 0.002073 0.003974 0.003671 0.004312 0.01915 240207667 ZNF669 . GRCh38 chr1 247104199 247104199 + Translation_Start_Site SNP T T G novel 7316-154 BS_MKSMSB6J T T c.1A>C p.Met1? p.M1? ENST00000343381 1/4 92 77 15 41 41 0 ZNF669,start_lost,p.Met1?,ENST00000343381,NM_024804.2;ZNF669,start_lost,p.Met1?,ENST00000448299,NM_001142572.1;ZNF669,start_lost,p.Met1?,ENST00000366501,;ZNF669,start_lost,p.Met1?,ENST00000476158,;ZNF669,start_lost,p.Met1?,ENST00000366500,;,regulatory_region_variant,,ENSR00000023181,; G ENSG00000188295 ENST00000343381 Transcript start_lost 174/1951 1/1395 1/464 M/L Atg/Ctg 1 -1 ZNF669 HGNC HGNC:25736 protein_coding YES CCDS31088.1 ENSP00000342818 Q96BR6 A0A024R5S3 UPI000013E1E0 NM_024804.2 deleterious_low_confidence(0) benign(0.007) 1/4 HIGH 1 SNV 1 PASS ATT . . 247104199 FBXO11 . GRCh38 chr2 47823321 47823321 + Missense_Mutation SNP C C G novel 7316-154 BS_MKSMSB6J C C c.1438G>C p.Ala480Pro p.A480P ENST00000403359 12/23 65 52 12 33 33 0 FBXO11,missense_variant,p.Ala480Pro,ENST00000403359,NM_001190274.1;FBXO11,missense_variant,p.Ala396Pro,ENST00000402508,NM_025133.4;FBXO11,missense_variant,p.Ala272Pro,ENST00000493962,;FBXO11,non_coding_transcript_exon_variant,,ENST00000492225,; G ENSG00000138081 ENST00000403359 Transcript missense_variant 1511/4055 1438/2784 480/927 A/P Gca/Cca 1 -1 FBXO11 HGNC HGNC:13590 protein_coding YES CCDS54357.1 ENSP00000384823 Q86XK2 UPI00005793B7 NM_001190274.1 deleterious(0.02) probably_damaging(0.976) 12/23 hmmpanther:PTHR22990,hmmpanther:PTHR22990:SF20,Gene3D:2.160.20.10,SMART_domains:SM00722,SMART_domains:SM00710,Superfamily_domains:SSF51126 MODERATE 1 SNV 1 1 PASS GCT . . 47823321 CCDC85A . GRCh38 chr2 56184898 56184898 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.274A>C p.Lys92Gln p.K92Q ENST00000407595 1/6 76 66 9 37 36 0 CCDC85A,missense_variant,p.Lys92Gln,ENST00000407595,NM_001080433.1;AC011306.1,downstream_gene_variant,,ENST00000606639,;AC007743.1,non_coding_transcript_exon_variant,,ENST00000596663,;AC007743.1,non_coding_transcript_exon_variant,,ENST00000447423,;AC007743.1,intron_variant,,ENST00000432793,;AC007744.1,intron_variant,,ENST00000607540,;,regulatory_region_variant,,ENSR00000117429,; C ENSG00000055813 ENST00000407595 Transcript missense_variant,splice_region_variant 776/3982 274/1662 92/553 K/Q Aag/Cag 1 1 CCDC85A HGNC HGNC:29400 protein_coding YES CCDS46290.1 ENSP00000384040 Q96PX6 UPI00001C1DC1 NM_001080433.1 deleterious(0.03) benign(0.095) 1/6 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10226,hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF13 MODERATE 1 SNV 1 PASS CAA . . 56184898 HTRA2 . GRCh38 chr2 74530322 74530322 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.316T>G p.Trp106Gly p.W106G ENST00000258080 1/8 95 75 15 32 30 1 HTRA2,missense_variant,p.Trp106Gly,ENST00000258080,NM_013247.4;HTRA2,missense_variant,p.Trp93Gly,ENST00000437202,NM_001321728.1,NM_001321727.1;HTRA2,missense_variant,p.Trp106Gly,ENST00000352222,NM_145074.2;LOXL3,downstream_gene_variant,,ENST00000264094,NM_032603.3;AUP1,upstream_gene_variant,,ENST00000377526,NM_181575.4;LOXL3,downstream_gene_variant,,ENST00000393937,NM_001289165.1,NM_001289164.1;DQX1,upstream_gene_variant,,ENST00000393951,;DQX1,upstream_gene_variant,,ENST00000404568,NM_133637.2;LOXL3,downstream_gene_variant,,ENST00000409249,;LOXL3,downstream_gene_variant,,ENST00000409549,;LOXL3,downstream_gene_variant,,ENST00000409986,;DQX1,upstream_gene_variant,,ENST00000451518,;HTRA2,intron_variant,,ENST00000462909,;HTRA2,intron_variant,,ENST00000467961,;HTRA2,intron_variant,,ENST00000484881,;LOXL3,downstream_gene_variant,,ENST00000481835,;DQX1,upstream_gene_variant,,ENST00000498552,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484352,;AUP1,upstream_gene_variant,,ENST00000425118,;AUP1,upstream_gene_variant,,ENST00000462297,;AUP1,upstream_gene_variant,,ENST00000463900,;AUP1,upstream_gene_variant,,ENST00000464887,;HTRA2,upstream_gene_variant,,ENST00000465521,;AUP1,upstream_gene_variant,,ENST00000466894,;LOXL3,downstream_gene_variant,,ENST00000470907,;AUP1,upstream_gene_variant,,ENST00000472800,;DQX1,upstream_gene_variant,,ENST00000473508,;HTRA2,upstream_gene_variant,,ENST00000482205,;HTRA2,upstream_gene_variant,,ENST00000482331,;AUP1,upstream_gene_variant,,ENST00000486234,;,regulatory_region_variant,,ENSR00000119180,; G ENSG00000115317 ENST00000258080 Transcript missense_variant 946/2370 316/1377 106/458 W/G Tgg/Ggg 1 1 HTRA2 HGNC HGNC:14348 protein_coding YES CCDS1951.1 ENSP00000258080 O43464 UPI000012CB84 NM_013247.4 deleterious(0.01) possibly_damaging(0.614) 1/8 Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTG . . 74530322 ESPNL . GRCh38 chr2 238125303 238125303 + Missense_Mutation SNP T T G 7316-154 BS_MKSMSB6J T T c.1021T>G p.Phe341Val p.F341V ENST00000343063 6/9 100 87 10 36 35 0 ESPNL,missense_variant,p.Phe341Val,ENST00000343063,NM_194312.3;ESPNL,missense_variant,p.Phe297Val,ENST00000409169,;ESPNL,5_prime_UTR_variant,,ENST00000612395,;ESPNL,upstream_gene_variant,,ENST00000409506,NM_001308370.1;ESPNL,upstream_gene_variant,,ENST00000423032,;ESPNL,upstream_gene_variant,,ENST00000477241,; G ENSG00000144488 ENST00000343063 Transcript missense_variant 1284/4836 1021/3018 341/1005 F/V Ttc/Gtc COSM5958755 1 1 ESPNL HGNC HGNC:27937 protein_coding YES CCDS2525.1 ENSP00000339115 Q6ZVH7 UPI000022BC90 NM_194312.3 tolerated(0.29) benign(0.164) 6/9 hmmpanther:PTHR24153,hmmpanther:PTHR24153:SF0,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 2 1 PASS GTT . . 238125303 SNED1 . GRCh38 chr2 240999021 240999021 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.184T>G p.Phe62Val p.F62V ENST00000310397 1/32 87 76 8 38 38 0 SNED1,missense_variant,p.Phe62Val,ENST00000310397,NM_001080437.1;SNED1,missense_variant,p.Phe62Val,ENST00000405547,;SNED1,missense_variant,p.Phe62Val,ENST00000401884,;,regulatory_region_variant,,ENSR00000133215,; G ENSG00000162804 ENST00000310397 Transcript missense_variant 184/8174 184/4242 62/1413 F/V Ttc/Gtc 1 1 SNED1 HGNC HGNC:24696 protein_coding YES CCDS46562.1 ENSP00000308893 Q8TER0 UPI0000DD7AB0 NM_001080437.1 deleterious(0) benign(0.282) 1/32 hmmpanther:PTHR44772 MODERATE 1 SNV 5 PASS GTT . . 240999021 HDAC11 . GRCh38 chr3 13480349 13480349 + Translation_Start_Site SNP T T G novel 7316-154 BS_MKSMSB6J T T c.2T>G p.Met1? p.M1? ENST00000295757 1/10 124 97 12 37 36 0 HDAC11,start_lost,p.Met1?,ENST00000295757,NM_024827.3;HDAC11,start_lost,p.Met1?,ENST00000402271,;HDAC11,start_lost,p.Met1?,ENST00000402259,;HDAC11,start_lost,p.Met1?,ENST00000404040,;HDAC11,start_lost,p.Met1?,ENST00000404548,;HDAC11,splice_region_variant,,ENST00000446613,;HDAC11,5_prime_UTR_variant,,ENST00000405478,;HDAC11,intron_variant,,ENST00000433119,;HDAC11,upstream_gene_variant,,ENST00000405025,;HDAC11,upstream_gene_variant,,ENST00000416248,;HDAC11,upstream_gene_variant,,ENST00000418189,;HDAC11,upstream_gene_variant,,ENST00000434848,;HDAC11,upstream_gene_variant,,ENST00000437379,;HDAC11,upstream_gene_variant,,ENST00000455904,;HDAC11,upstream_gene_variant,,ENST00000522202,NM_001136041.2;HDAC11-AS1,upstream_gene_variant,,ENST00000424112,;HDAC11,splice_region_variant,,ENST00000458642,;HDAC11,start_lost,p.Met1?,ENST00000425430,;HDAC11,upstream_gene_variant,,ENST00000475818,;HDAC11,upstream_gene_variant,,ENST00000487585,;,regulatory_region_variant,,ENSR00000148803,; G ENSG00000163517 ENST00000295757 Transcript start_lost,splice_region_variant 185/2960 2/1044 1/347 M/R aTg/aGg 1 1 HDAC11 HGNC HGNC:19086 protein_coding YES CCDS2615.1 ENSP00000295757 Q96DB2 A0A024R2I1 UPI000012C3A7 NM_024827.3 deleterious_low_confidence(0) benign(0.012) 1/10 HIGH 1 SNV 1 PASS ATG . . 13480349 C3orf30 . GRCh38 chr3 119146352 119146352 + Missense_Mutation SNP A A G novel 7316-154 BS_MKSMSB6J A A c.163A>G p.Thr55Ala p.T55A ENST00000295622 1/3 82 77 5 40 40 0 C3orf30,missense_variant,p.Thr55Ala,ENST00000295622,NM_152539.2;C3orf30,missense_variant,p.Thr19Ala,ENST00000460150,;IGSF11,upstream_gene_variant,,ENST00000425327,NM_152538.2,NM_001353320.1;IGSF11,upstream_gene_variant,,ENST00000441144,;C3orf30,upstream_gene_variant,,ENST00000473121,;AC083800.1,upstream_gene_variant,,ENST00000490594,;C3orf30,upstream_gene_variant,,ENST00000492792,;IGSF11,upstream_gene_variant,,ENST00000494802,;C3orf30,missense_variant,p.Thr55Ala,ENST00000494105,; G ENSG00000163424 ENST00000295622 Transcript missense_variant 203/1814 163/1611 55/536 T/A Act/Gct 1 1 C3orf30 HGNC HGNC:26553 protein_coding YES CCDS2984.1 ENSP00000295622 Q96M34 UPI000013E280 NM_152539.2 tolerated(0.77) benign(0.029) 1/3 hmmpanther:PTHR21847,hmmpanther:PTHR21847:SF4,mobidb-lite MODERATE 1 SNV 1 PASS GAC . . 119146352 PLXNA1 . GRCh38 chr3 126991451 126991451 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.1262T>G p.Ile421Ser p.I421S ENST00000393409 2/31 115 105 9 38 38 0 PLXNA1,missense_variant,p.Ile421Ser,ENST00000393409,NM_032242.3; G ENSG00000114554 ENST00000393409 Transcript missense_variant 1262/9066 1262/5691 421/1896 I/S aTt/aGt 1 1 PLXNA1 HGNC HGNC:9099 protein_coding YES CCDS33847.2 ENSP00000377061 Q9UIW2 UPI00001A7983 NM_032242.3 deleterious(0) possibly_damaging(0.551) 2/31 PROSITE_profiles:PS51004,cd11271,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912 MODERATE 1 SNV 1 PASS ATT . . 126991451 PLXNA1 . GRCh38 chr3 127028331 127028331 + Missense_Mutation SNP A A C 7316-154 BS_MKSMSB6J A A c.4660A>C p.Met1554Leu p.M1554L ENST00000393409 24/31 110 101 8 33 33 0 PLXNA1,missense_variant,p.Met1554Leu,ENST00000393409,NM_032242.3;PLXNA1,upstream_gene_variant,,ENST00000505278,;PLXNA1,non_coding_transcript_exon_variant,,ENST00000503234,;PLXNA1,upstream_gene_variant,,ENST00000503363,; C ENSG00000114554 ENST00000393409 Transcript missense_variant 4660/9066 4660/5691 1554/1896 M/L Atg/Ctg COSM246673 1 1 PLXNA1 HGNC HGNC:9099 protein_coding YES CCDS33847.2 ENSP00000377061 Q9UIW2 UPI00001A7983 NM_032242.3 tolerated(0.55) probably_damaging(0.982) 24/31 cd12790,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF08337,Gene3D:1.10.506.10 1 MODERATE 1 SNV 1 1 PASS CAT . . 127028331 PODXL2 . GRCh38 chr3 127629284 127629284 + Missense_Mutation SNP T T G rs1181590106 7316-154 BS_MKSMSB6J T T c.65T>G p.Val22Gly p.V22G ENST00000342480 1/8 42 30 9 24 22 0 PODXL2,missense_variant,p.Val22Gly,ENST00000342480,NM_015720.3;,regulatory_region_variant,,ENSR00000157968,; G ENSG00000114631 ENST00000342480 Transcript missense_variant 104/2186 65/1818 22/605 V/G gTt/gGt rs1181590106 1 1 PODXL2 HGNC HGNC:17936 protein_coding YES CCDS3044.1 ENSP00000345359 Q9NZ53 UPI000006FC4B NM_015720.3 tolerated(0.34) benign(0) 1/8 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257,hmmpanther:PTHR15594 MODERATE 1 SNV 1 PASS GTT . . 127629284 PRR23A . GRCh38 chr3 139005550 139005550 + Missense_Mutation SNP A A C 7316-154 BS_MKSMSB6J A A c.719T>G p.Val240Gly p.V240G ENST00000383163 1/1 72 59 9 27 26 0 PRR23A,missense_variant,p.Val240Gly,ENST00000383163,NM_001134659.1;MRPS22,upstream_gene_variant,,ENST00000495075,;,regulatory_region_variant,,ENSR00000306517,; C ENSG00000206260 ENST00000383163 Transcript missense_variant 719/801 719/801 240/266 V/G gTg/gGg COSM4591927 1 -1 PRR23A HGNC HGNC:37172 protein_coding YES CCDS46923.1 ENSP00000372649 A6NEV1 UPI00003671C1 NM_001134659.1 tolerated(0.05) benign(0.154) 1/1 Pfam_domain:PF10630,hmmpanther:PTHR31813,hmmpanther:PTHR31813:SF15,mobidb-lite 1 MODERATE SNV 1 PASS CAC . . 139005550 SIAH2 . GRCh38 chr3 150762686 150762686 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.164T>G p.Ile55Ser p.I55S ENST00000312960 1/2 97 83 11 27 27 0 SIAH2,missense_variant,p.Ile55Ser,ENST00000312960,NM_005067.5;SIAH2,intron_variant,,ENST00000482706,;SIAH2-AS1,downstream_gene_variant,,ENST00000461943,;SIAH2,intron_variant,,ENST00000472885,;,regulatory_region_variant,,ENSR00000306890,; C ENSG00000181788 ENST00000312960 Transcript missense_variant 692/2517 164/975 55/324 I/S aTc/aGc 1 -1 SIAH2 HGNC HGNC:10858 protein_coding YES CCDS3152.1 ENSP00000322457 O43255 UPI0000071280 NM_005067.5 tolerated(0.85) benign(0.007) 1/2 hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF11,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAT . . 150762686 MUC4 . GRCh38 chr3 195779246 195779246 + Missense_Mutation SNP G G T rs200320052 7316-154 BS_MKSMSB6J G G c.12334C>A p.Pro4112Thr p.P4112T ENST00000463781 2/25 30 19 6 24 21 0 MUC4,missense_variant,p.Pro4112Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro4112Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro4112Thr,ENST00000478156,;MUC4,missense_variant,p.Pro4112Thr,ENST00000466475,;MUC4,missense_variant,p.Pro4112Thr,ENST00000477756,;MUC4,missense_variant,p.Pro4112Thr,ENST00000477086,;MUC4,missense_variant,p.Pro4112Thr,ENST00000480843,;MUC4,missense_variant,p.Pro4112Thr,ENST00000462323,;MUC4,missense_variant,p.Pro4112Thr,ENST00000470451,;MUC4,missense_variant,p.Pro4112Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 12794/17110 12334/16239 4112/5412 P/T Cct/Act rs200320052,COSM3847087 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.01) possibly_damaging(0.456) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGC . . 0.03005 0.00348 0.02262 0.08062 0.0279 0.02458 0.02838 0.03868 0.03836 195779246 RUBCN . GRCh38 chr3 197736698 197736698 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.22A>C p.Met8Leu p.M8L ENST00000296343 1/20 95 76 14 32 32 0 RUBCN,missense_variant,p.Met8Leu,ENST00000296343,NM_014687.2;RUBCN,missense_variant,p.Met8Leu,ENST00000449205,;RUBCN,5_prime_UTR_variant,,ENST00000474214,;RUBCN,intron_variant,,ENST00000273582,NM_001145642.3;FYTTD1,upstream_gene_variant,,ENST00000428738,;RUBCN,intron_variant,,ENST00000467303,;,regulatory_region_variant,,ENSR00000164602,; G ENSG00000145016 ENST00000296343 Transcript missense_variant 22/2919 22/2919 8/972 M/L Atg/Ctg 1 -1 RUBCN HGNC HGNC:28991 protein_coding YES CCDS43195.1 ENSP00000296343 Q92622 UPI00001C1DE4 NM_014687.2 tolerated_low_confidence(0.14) benign(0.003) 1/20 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS ATT . . 197736698 SLC10A4 . GRCh38 chr4 48483814 48483814 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.253T>G p.Phe85Val p.F85V ENST00000273861 1/3 99 77 22 23 23 0 SLC10A4,missense_variant,p.Phe85Val,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168127,; G ENSG00000145248 ENST00000273861 Transcript missense_variant 472/1790 253/1314 85/437 F/V Ttc/Gtc 1 1 SLC10A4 HGNC HGNC:22980 protein_coding YES CCDS3482.1 ENSP00000273861 Q96EP9 UPI000006E8DB NM_152679.3 deleterious(0.02) benign(0) 1/3 hmmpanther:PTHR10361:SF41,hmmpanther:PTHR10361 MODERATE 1 SNV 1 PASS GTT . . 48483814 GSX2 . GRCh38 chr4 54100900 54100900 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.556T>G p.Phe186Val p.F186V ENST00000326902 1/2 99 89 9 31 31 0 GSX2,missense_variant,p.Phe186Val,ENST00000326902,;GSX2,missense_variant,p.Phe186Val,ENST00000611459,NM_133267.2;GSX2,intron_variant,,ENST00000503800,;AC058822.1,intron_variant,,ENST00000507166,;GSX2,non_coding_transcript_exon_variant,,ENST00000548609,;GSX2,intron_variant,,ENST00000507839,;,regulatory_region_variant,,ENSR00000168465,; G ENSG00000180613 ENST00000326902 Transcript missense_variant 870/1812 556/915 186/304 F/V Ttc/Gtc 1 1 GSX2 HGNC HGNC:24959 protein_coding YES CCDS3494.1 ENSP00000319118 Q9BZM3 UPI0000141A63 deleterious(0.01) benign(0.035) 1/2 Gene3D:1.10.10.60,hmmpanther:PTHR24326:SF170,hmmpanther:PTHR24326 MODERATE 1 SNV 1 PASS ATT . . 54100900 PKD2 . GRCh38 chr4 88008061 88008061 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.328A>C p.Met110Leu p.M110L ENST00000237596 1/15 122 104 12 42 41 0 PKD2,missense_variant,p.Met110Leu,ENST00000237596,NM_000297.3;PKD2,upstream_gene_variant,,ENST00000506727,;,regulatory_region_variant,,ENSR00000170535,; C ENSG00000118762 ENST00000237596 Transcript missense_variant 394/5056 328/2907 110/968 M/L Atg/Ctg 1 1 PKD2 HGNC HGNC:9009 protein_coding YES CCDS3627.1 ENSP00000237596 Q13563 UPI000013CA1D NM_000297.3 tolerated_low_confidence(0.51) benign(0.007) 1/15 hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF114,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAT . . 88008061 SEC24B . GRCh38 chr4 109433895 109433895 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.26A>C p.His9Pro p.H9P ENST00000504968 1/25 83 73 6 29 28 0 SEC24B,missense_variant,p.His9Pro,ENST00000265175,NM_006323.4,NM_001318085.1;SEC24B,missense_variant,p.His9Pro,ENST00000504968,NM_001300813.2;SEC24B,missense_variant,p.His9Pro,ENST00000399100,NM_001318086.1,NM_001042734.3;SEC24B-AS1,upstream_gene_variant,,ENST00000499359,;SEC24B-AS1,upstream_gene_variant,,ENST00000505895,;SEC24B-AS1,upstream_gene_variant,,ENST00000510971,;,regulatory_region_variant,,ENSR00000171830,; C ENSG00000138802 ENST00000504968 Transcript missense_variant 124/4066 26/3897 9/1298 H/P cAc/cCc 1 1 SEC24B HGNC HGNC:10704 protein_coding YES CCDS75179.1 ENSP00000428564 O95487 UPI000189A7A7 NM_001300813.2 deleterious_low_confidence(0) benign(0.068) 1/25 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 109433895 IRX2 . GRCh38 chr5 2748955 2748955 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.753A>C p.Glu251Asp p.E251D ENST00000382611 3/5 119 103 12 49 48 0 IRX2,missense_variant,p.Glu251Asp,ENST00000382611,NM_001134222.1;IRX2,missense_variant,p.Glu251Asp,ENST00000302057,NM_033267.4;C5orf38,upstream_gene_variant,,ENST00000334000,NM_178569.3;C5orf38,upstream_gene_variant,,ENST00000397835,;C5orf38,upstream_gene_variant,,ENST00000457752,NM_001294337.1;C5orf38,upstream_gene_variant,,ENST00000505778,NM_001306149.1;C5orf38,upstream_gene_variant,,ENST00000515640,NM_001306150.1;C5orf38,upstream_gene_variant,,ENST00000503940,;C5orf38,upstream_gene_variant,,ENST00000505106,;,regulatory_region_variant,,ENSR00000313772,; G ENSG00000170561 ENST00000382611 Transcript missense_variant 1002/2630 753/1416 251/471 E/D gaA/gaC 1 -1 IRX2 HGNC HGNC:14359 protein_coding YES CCDS3868.1 ENSP00000372056 Q9BZI1 UPI00001B6456 NM_001134222.1 tolerated(0.26) benign(0.169) 3/5 hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF15,mobidb-lite MODERATE 1 SNV 1 1 PASS ATT . . 2748955 CRHBP . GRCh38 chr5 76954143 76954143 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.290A>C p.Tyr97Ser p.Y97S ENST00000274368 3/7 89 76 10 36 36 0 CRHBP,missense_variant,p.Tyr97Ser,ENST00000274368,NM_001882.3;CRHBP,missense_variant,p.Tyr97Ser,ENST00000506501,;CRHBP,upstream_gene_variant,,ENST00000514258,;CRHBP,non_coding_transcript_exon_variant,,ENST00000512446,;,regulatory_region_variant,,ENSR00000182819,; C ENSG00000145708 ENST00000274368 Transcript missense_variant 712/1980 290/969 97/322 Y/S tAc/tCc 1 1 CRHBP HGNC HGNC:2356 protein_coding YES CCDS4034.1 ENSP00000274368 P24387 UPI0000001053 NM_001882.3 deleterious(0.04) benign(0.398) 3/7 hmmpanther:PTHR10278,Pfam_domain:PF05428,Gene3D:2.60.120.290,PIRSF_domain:PIRSF009279,Superfamily_domains:SSF49854 MODERATE 1 SNV 1 PASS TAC . . 76954143 CAST . GRCh38 chr5 96662494 96662494 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.72T>G p.His24Gln p.H24Q ENST00000395812 1/30 104 85 15 32 32 0 CAST,missense_variant,p.His24Gln,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Gln,ENST00000508830,;CAST,missense_variant,p.His24Gln,ENST00000510756,;CAST,missense_variant,p.His24Gln,ENST00000511097,;CAST,missense_variant,p.His24Gln,ENST00000421689,;CAST,missense_variant,p.His7Gln,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; G ENSG00000153113 ENST00000395812 Transcript missense_variant 258/4506 72/2253 24/750 H/Q caT/caG 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 tolerated_low_confidence(1) benign(0) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS ATG . . 96662494 SHROOM1 . GRCh38 chr5 132825795 132825795 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.346T>G p.Tyr116Asp p.Y116D ENST00000378679 4/10 91 77 9 33 33 0 SHROOM1,missense_variant,p.Tyr116Asp,ENST00000378679,NM_001172700.1;SHROOM1,missense_variant,p.Tyr116Asp,ENST00000617339,;SHROOM1,missense_variant,p.Tyr116Asp,ENST00000319854,NM_133456.2;SHROOM1,missense_variant,p.Tyr116Asp,ENST00000378676,;SHROOM1,missense_variant,p.Tyr116Asp,ENST00000440118,;SHROOM1,upstream_gene_variant,,ENST00000488072,;SHROOM1,upstream_gene_variant,,ENST00000495680,;SHROOM1,upstream_gene_variant,,ENST00000606676,;,regulatory_region_variant,,ENSR00000186905,; C ENSG00000164403 ENST00000378679 Transcript missense_variant 1151/4019 346/2559 116/852 Y/D Tac/Gac 1 -1 SHROOM1 HGNC HGNC:24084 protein_coding YES CCDS54902.1 ENSP00000367950 Q2M3G4 UPI000036FD4D NM_001172700.1 deleterious(0) possibly_damaging(0.525) 4/10 hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF37,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAC . . 132825795 KIF20A . GRCh38 chr5 138181693 138181693 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.340A>C p.Ile114Leu p.I114L ENST00000394894 4/19 86 78 6 53 52 0 KIF20A,missense_variant,p.Ile114Leu,ENST00000394894,NM_005733.2;KIF20A,missense_variant,p.Ile96Leu,ENST00000508792,;KIF20A,missense_variant,p.Ile114Leu,ENST00000504621,;KIF20A,missense_variant,p.Ile114Leu,ENST00000513276,;BRD8,upstream_gene_variant,,ENST00000230901,NM_006696.3;BRD8,upstream_gene_variant,,ENST00000254900,NM_139199.1;BRD8,upstream_gene_variant,,ENST00000402931,NM_001300962.1,NM_001300961.1;BRD8,upstream_gene_variant,,ENST00000411594,NM_001164326.1;BRD8,upstream_gene_variant,,ENST00000418329,;BRD8,upstream_gene_variant,,ENST00000430331,;BRD8,upstream_gene_variant,,ENST00000441656,;BRD8,upstream_gene_variant,,ENST00000454473,NM_001300966.1;BRD8,upstream_gene_variant,,ENST00000425764,;KIF20A,non_coding_transcript_exon_variant,,ENST00000511638,;KIF20A,non_coding_transcript_exon_variant,,ENST00000503417,;BRD8,upstream_gene_variant,,ENST00000428808,;BRD8,upstream_gene_variant,,ENST00000432618,;BRD8,upstream_gene_variant,,ENST00000450756,;BRD8,upstream_gene_variant,,ENST00000471437,;KIF20A,upstream_gene_variant,,ENST00000502338,;BRD8,upstream_gene_variant,,ENST00000512140,;BRD8,upstream_gene_variant,,ENST00000515254,; C ENSG00000112984 ENST00000394894 Transcript missense_variant 566/3201 340/2673 114/890 I/L Att/Ctt 1 1 KIF20A HGNC HGNC:9787 protein_coding YES CCDS4199.1 ENSP00000378356 O95235 UPI0000000CCE NM_005733.2 tolerated(0.05) benign(0.009) 4/19 Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF352,SMART_domains:SM00129,Superfamily_domains:SSF52540,cd01368 MODERATE 1 SNV 1 PASS AAT . . 138181693 ARL10 . GRCh38 chr5 176365589 176365589 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.26T>G p.Leu9Trp p.L9W ENST00000310389 1/4 101 81 15 31 31 0 ARL10,missense_variant,p.Leu9Trp,ENST00000310389,NM_173664.5,NM_001317948.1;KIAA1191,upstream_gene_variant,,ENST00000298569,NM_020444.4;KIAA1191,upstream_gene_variant,,ENST00000393725,NM_001079684.2;KIAA1191,upstream_gene_variant,,ENST00000503082,;ARL10,upstream_gene_variant,,ENST00000503175,;KIAA1191,upstream_gene_variant,,ENST00000504688,;KIAA1191,upstream_gene_variant,,ENST00000506983,;KIAA1191,upstream_gene_variant,,ENST00000510164,NM_001079685.2;ARL10,upstream_gene_variant,,ENST00000514533,;KIAA1191,upstream_gene_variant,,ENST00000533553,;KIAA1191,upstream_gene_variant,,ENST00000614420,NM_001287336.1;KIAA1191,upstream_gene_variant,,ENST00000620366,NM_001287335.1;MIR1271,upstream_gene_variant,,ENST00000408537,;KIAA1191,upstream_gene_variant,,ENST00000393728,;KIAA1191,upstream_gene_variant,,ENST00000506613,;KIAA1191,upstream_gene_variant,,ENST00000506668,;ARL10,upstream_gene_variant,,ENST00000507151,;KIAA1191,upstream_gene_variant,,ENST00000508023,;,regulatory_region_variant,,ENSR00000191209,; G ENSG00000175414 ENST00000310389 Transcript missense_variant 122/10845 26/735 9/244 L/W tTg/tGg 1 1 ARL10 HGNC HGNC:22042 protein_coding YES CCDS4400.1 ENSP00000308496 Q8N8L6 UPI000006FEF9 NM_173664.5,NM_001317948.1 deleterious(0) possibly_damaging(0.782) 1/4 hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF126,Low_complexity_(Seg):seg MODERATE SNV 2 PASS TTG . . 176365589 TXNDC5 . GRCh38 chr6 7910677 7910677 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.100T>G p.Trp34Gly p.W34G ENST00000379757 1/10 58 34 14 54 54 0 TXNDC5,missense_variant,p.Trp34Gly,ENST00000379757,NM_030810.3;TXNDC5,upstream_gene_variant,,ENST00000473453,NM_001145549.2;BLOC1S5-TXNDC5,intron_variant,,ENST00000439343,;,regulatory_region_variant,,ENSR00000192851,; C ENSG00000239264 ENST00000379757 Transcript missense_variant 138/2964 100/1299 34/432 W/G Tgg/Ggg 1 -1 TXNDC5 HGNC HGNC:21073 protein_coding YES CCDS4505.1 ENSP00000369081 Q8NBS9 UPI0000048EC3 NM_030810.3 tolerated_low_confidence(0.23) benign(0) 1/10 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAG . . 7910677 GMPR . GRCh38 chr6 16238695 16238695 + Translation_Start_Site SNP T T G novel 7316-154 BS_MKSMSB6J T T c.2T>G p.Met1? p.M1? ENST00000259727 1/9 93 82 8 41 41 0 GMPR,start_lost,p.Met1?,ENST00000259727,NM_006877.3;,regulatory_region_variant,,ENSR00000193942,; G ENSG00000137198 ENST00000259727 Transcript start_lost 116/1515 2/1038 1/345 M/R aTg/aGg 1 1 GMPR HGNC HGNC:4376 protein_coding YES CCDS4537.1 ENSP00000259727 P36959 UPI000012B8B2 NM_006877.3 deleterious_low_confidence(0) probably_damaging(0.998) 1/9 PDB-ENSP_mappings:2ble.A,PDB-ENSP_mappings:2bwg.A,PDB-ENSP_mappings:2bwg.B,PDB-ENSP_mappings:2bwg.C,PDB-ENSP_mappings:2bwg.D,hmmpanther:PTHR43170:SF3,hmmpanther:PTHR43170,PIRSF_domain:PIRSF000235 HIGH 1 SNV 1 PASS ATG . . 16238695 CARMIL1 . GRCh38 chr6 25581305 25581305 + Missense_Mutation SNP T T A 7316-154 BS_MKSMSB6J T T c.2872T>A p.Phe958Ile p.F958I ENST00000329474 31/37 76 63 7 33 32 0 CARMIL1,missense_variant,p.Phe958Ile,ENST00000329474,NM_017640.5,NM_001173977.1;CARMIL1,missense_variant,p.Phe558Ile,ENST00000635618,; A ENSG00000079691 ENST00000329474 Transcript missense_variant 3240/5431 2872/4116 958/1371 F/I Ttc/Atc COSM6703621,COSM6703620 1 1 CARMIL1 HGNC HGNC:21581 protein_coding YES CCDS54973.1 ENSP00000331983 Q5VZK9 UPI00004588AB NM_017640.5,NM_001173977.1 tolerated(0.38) benign(0.012) 31/37 Pfam_domain:PF16000,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF39,mobidb-lite 1,1 MODERATE 1 SNV 1 1,1 PASS CTT . . 25581305 ZFAND3 . GRCh38 chr6 37820020 37820020 + Splice_Region SNP A A C novel 7316-154 BS_MKSMSB6J A A c.71+4A>C ENST00000287218 103 85 16 32 31 0 ZFAND3,splice_region_variant,,ENST00000287218,NM_021943.2;ZFAND3,splice_region_variant,,ENST00000373391,;ZFAND3,splice_region_variant,,ENST00000474522,;AL121574.1,upstream_gene_variant,,ENST00000415890,;,regulatory_region_variant,,ENSR00000196459,; C ENSG00000156639 ENST00000287218 Transcript splice_region_variant,intron_variant 1 1 ZFAND3 HGNC HGNC:18019 protein_coding YES CCDS4836.1 ENSP00000287218 Q9H8U3 A0A024RD12 UPI000006E3A4 NM_021943.2 1/5 LOW 1 SNV 1 PASS AAG . . 37820020 NFKBIE . GRCh38 chr6 44265696 44265696 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.68A>C p.Lys23Thr p.K23T ENST00000275015 1/6 90 77 10 38 33 0 NFKBIE,missense_variant,p.Lys23Thr,ENST00000275015,NM_004556.2;NFKBIE,5_prime_UTR_variant,,ENST00000619360,;TMEM151B,upstream_gene_variant,,ENST00000451188,NM_001137560.1;NFKBIE,upstream_gene_variant,,ENST00000477930,;,regulatory_region_variant,,ENSR00000197296,;,TF_binding_site_variant,,MA0366.1,;,TF_binding_site_variant,,MA0341.1,; G ENSG00000146232 ENST00000275015 Transcript missense_variant 93/2581 68/1503 23/500 K/T aAg/aCg 1 -1 NFKBIE HGNC HGNC:7799 protein_coding YES CCDS34463.1 ENSP00000275015 O00221 A0A024RD24 UPI000013DA3C NM_004556.2 deleterious_low_confidence(0) benign(0.025) 1/6 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS CTT . . 44265696 C6orf141 . GRCh38 chr6 49550935 49550935 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.143A>C p.Asn48Thr p.N48T ENST00000529246 1/1 110 92 14 42 42 0 C6orf141,missense_variant,p.Asn48Thr,ENST00000529246,NM_001145652.1;C6orf141,upstream_gene_variant,,ENST00000424426,;C6orf141,missense_variant,p.Asn48Thr,ENST00000371194,;C6orf141,missense_variant,p.Asn48Thr,ENST00000414696,;C6orf141,upstream_gene_variant,,ENST00000415078,;C6orf141,upstream_gene_variant,,ENST00000526429,;C6orf141,upstream_gene_variant,,ENST00000530382,;,regulatory_region_variant,,ENSR00000197764,; C ENSG00000197261 ENST00000529246 Transcript missense_variant 290/1450 143/735 48/244 N/T aAt/aCt 1 1 C6orf141 HGNC HGNC:21351 protein_coding YES CCDS55018.1 ENSP00000434602 Q5SZD1 UPI000013E9DC NM_001145652.1 tolerated(0.17) benign(0.038) 1/1 mobidb-lite,hmmpanther:PTHR36880 MODERATE 1 SNV PASS AAT . . 49550935 CGAS . GRCh38 chr6 73451727 73451727 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.455T>G p.Ile152Ser p.I152S ENST00000370315 1/5 106 88 17 34 34 0 CGAS,missense_variant,p.Ile152Ser,ENST00000370315,NM_138441.2;CGAS,missense_variant,p.Ile152Ser,ENST00000370318,;,regulatory_region_variant,,ENSR00000198842,; C ENSG00000164430 ENST00000370315 Transcript missense_variant 550/3182 455/1569 152/522 I/S aTt/aGt 1 -1 CGAS HGNC HGNC:21367 protein_coding YES CCDS4978.1 ENSP00000359339 Q8N884 UPI00001AEC2D NM_138441.2 tolerated(0.8) benign(0) 1/5 hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF35 MODERATE 1 SNV 1 PASS AAT . . 73451727 ARID1B . GRCh38 chr6 156778767 156778767 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.838A>C p.Met280Leu p.M280L ENST00000346085 1/20 68 55 9 24 24 0 ARID1B,missense_variant,p.Met280Leu,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Met280Leu,ENST00000636930,;ARID1B,missense_variant,p.Met280Leu,ENST00000350026,NM_017519.2;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000638000,;AL355297.3,upstream_gene_variant,,ENST00000604082,;MIR4466,downstream_gene_variant,,ENST00000606121,;AL355297.4,upstream_gene_variant,,ENST00000603191,;AL355297.2,downstream_gene_variant,,ENST00000604792,;ARID1B,upstream_gene_variant,,ENST00000637910,;,regulatory_region_variant,,ENSR00000205766,; C ENSG00000049618 ENST00000346085 Transcript missense_variant 1394/10194 838/6750 280/2249 M/L Atg/Ctg 1 1 ARID1B HGNC HGNC:18040 protein_coding YES CCDS55072.1 ENSP00000344546 Q8NFD5 UPI000058E4B2 NM_020732.3 deleterious_low_confidence(0.02) benign(0.023) 1/20 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:3.40.50.1980 MODERATE 1 SNV 1 1 PASS CAT . . 156778767 SLC29A4 . GRCh38 chr7 5299072 5299072 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.967A>C p.Met323Leu p.M323L ENST00000396872 8/11 133 115 14 35 35 0 SLC29A4,missense_variant,p.Met323Leu,ENST00000396872,;SLC29A4,missense_variant,p.Met323Leu,ENST00000297195,NM_001040661.1,NM_153247.2;SLC29A4,missense_variant,p.Met309Leu,ENST00000406453,NM_001300847.1;SLC29A4,upstream_gene_variant,,ENST00000439491,; C ENSG00000164638 ENST00000396872 Transcript missense_variant 1128/5685 967/1593 323/530 M/L Atg/Ctg 1 1 SLC29A4 HGNC HGNC:23097 protein_coding YES CCDS5340.1 ENSP00000380081 Q7RTT9 UPI0000051F6F tolerated(0.61) benign(0.012) 8/11 hmmpanther:PTHR10332:SF4,hmmpanther:PTHR10332,Pfam_domain:PF01733 MODERATE 1 SNV 1 PASS CAT . . 5299072 CDK6 . GRCh38 chr7 92833282 92833282 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.42A>C p.Glu14Asp p.E14D ENST00000265734 2/8 150 133 14 32 31 0 CDK6,missense_variant,p.Glu14Asp,ENST00000265734,NM_001259.6;CDK6,missense_variant,p.Glu14Asp,ENST00000424848,NM_001145306.1;AC002454.1,upstream_gene_variant,,ENST00000435695,;AC002454.1,upstream_gene_variant,,ENST00000452050,;CDK6,downstream_gene_variant,,ENST00000491250,;,regulatory_region_variant,,ENSR00000215141,; G ENSG00000105810 ENST00000265734 Transcript missense_variant 454/11612 42/981 14/326 E/D gaA/gaC 1 -1 CDK6 HGNC HGNC:1777 protein_coding YES CCDS5628.1 ENSP00000265734 Q00534 UPI00001108FA NM_001259.6 tolerated(0.11) benign(0.056) 2/8 PDB-ENSP_mappings:1bi7.A,PDB-ENSP_mappings:1bi8.A,PDB-ENSP_mappings:1bi8.C,PDB-ENSP_mappings:1blx.A,PDB-ENSP_mappings:1g3n.A,PDB-ENSP_mappings:1g3n.E,PDB-ENSP_mappings:1jow.B,PDB-ENSP_mappings:1xo2.B,PDB-ENSP_mappings:2euf.B,PDB-ENSP_mappings:2f2c.B,PDB-ENSP_mappings:3nup.A,PDB-ENSP_mappings:3nux.A,PDB-ENSP_mappings:4aua.A,PDB-ENSP_mappings:4ez5.A,PDB-ENSP_mappings:4tth.B,PDB-ENSP_mappings:5l2i.A,PDB-ENSP_mappings:5l2s.A,PDB-ENSP_mappings:5l2t.A,PROSITE_profiles:PS50011,cd07862,hmmpanther:PTHR24056:SF129,hmmpanther:PTHR24056,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000654,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112 MODERATE 1 SNV 1 1 PASS ATT . . 92833282 KLF14 . GRCh38 chr7 130733963 130733963 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.71T>G p.Val24Gly p.V24G ENST00000583337 1/1 107 96 10 26 26 0 KLF14,missense_variant,p.Val24Gly,ENST00000583337,NM_138693.3;,regulatory_region_variant,,ENSR00000218022,; C ENSG00000266265 ENST00000583337 Transcript missense_variant 99/2827 71/972 24/323 V/G gTg/gGg 1 -1 KLF14 HGNC HGNC:23025 protein_coding YES CCDS5825.1 ENSP00000463287 Q8TD94 UPI000274712B NM_138693.3 deleterious(0) possibly_damaging(0.871) 1/1 hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF21 MODERATE 1 SNV PASS CAC . . 130733963 SSPO . GRCh38 chr7 149814588 149814588 + Missense_Mutation SNP C C T rs1332067514 7316-154 BS_MKSMSB6J C C c.10339C>T p.Pro3447Ser p.P3447S ENST00000378016 72/107 149 131 16 38 37 0 SSPO,missense_variant,p.Pro3447Ser,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,downstream_gene_variant,,ENST00000481772,; T ENSG00000197558 ENST00000378016 Transcript missense_variant 10339/15589 10339/15453 3447/5150 P/S Ccg/Tcg rs1332067514 1 1 SSPO HGNC HGNC:21998 protein_coding YES ENSP00000485256 A2VEC9 UPI000514C5D0 NM_198455.2 tolerated(0.19) benign(0.041) 72/107 Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895,PROSITE_profiles:PS50092,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF358 MODERATE 1 SNV 5 PASS CCC . . 149814588 KCNH2 . GRCh38 chr7 150951664 150951664 + Missense_Mutation SNP G G C novel 7316-154 BS_MKSMSB6J G G c.1729C>G p.Pro577Ala p.P577A ENST00000262186 7/15 130 117 11 30 30 0 KCNH2,missense_variant,p.Pro577Ala,ENST00000262186,NM_000238.3;KCNH2,missense_variant,p.Pro237Ala,ENST00000330883,NM_172057.2;KCNH2,missense_variant,p.Pro461Ala,ENST00000430723,NM_172056.2;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,NM_001204798.1; C ENSG00000055118 ENST00000262186 Transcript missense_variant 2131/4286 1729/3480 577/1159 P/A Cca/Gca 1 -1 KCNH2 HGNC HGNC:6251 protein_coding YES CCDS5910.1 ENSP00000262186 Q12809 A0A090N8Q0 UPI0000062255 NM_000238.3 deleterious(0.04) benign(0.18) 7/15 Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506 MODERATE 1 SNV 1 1 PASS GGC . . 150951664 KMT2C . GRCh38 chr7 152235860 152235860 + Missense_Mutation SNP C C T rs199504848 7316-154 BS_MKSMSB6J C C c.2726G>A p.Arg909Lys p.R909K ENST00000262189 16/59 106 84 21 38 38 0 KMT2C,missense_variant,p.Arg909Lys,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Arg909Lys,ENST00000355193,;KMT2C,missense_variant,p.Arg65Lys,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,; T ENSG00000055609 ENST00000262189 Transcript missense_variant 2945/16862 2726/14736 909/4911 R/K aGg/aAg rs199504848,COSM4161998,COSM4161997 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 deleterious(0.02) probably_damaging(0.952) 16/59 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS CCT . . 0.01399 0.002828 0.006979 0.007877 0.002564 0.04063 0.01944 0.008138 0.005313 152235860 TP53INP1 . GRCh38 chr8 94949151 94949151 + Splice_Region SNP T T G novel 7316-154 BS_MKSMSB6J T T c.-151+3A>C ENST00000342697 83 70 11 36 34 0 TP53INP1,splice_region_variant,,ENST00000342697,NM_033285.3;TP53INP1,splice_region_variant,,ENST00000448464,NM_001135733.1;NDUFAF6,intron_variant,,ENST00000396113,;NDUFAF6,intron_variant,,ENST00000519136,;NDUFAF6,intron_variant,,ENST00000523378,;AC087752.3,upstream_gene_variant,,ENST00000519034,;AC087752.3,upstream_gene_variant,,ENST00000523905,;,regulatory_region_variant,,ENSR00000227234,; G ENSG00000164938 ENST00000342697 Transcript splice_region_variant,intron_variant 1 -1 TP53INP1 HGNC HGNC:18022 protein_coding YES CCDS6265.1 ENSP00000344215 Q96A56 A0A024R9C8 UPI00000725F8 NM_033285.3 1/3 LOW 1 SNV 1 PASS TTA . . 94949151 TP53INP1 . GRCh38 chr8 94949152 94949152 + Splice_Site SNP A A C novel 7316-154 BS_MKSMSB6J A A c.-151+2T>G ENST00000342697 86 71 9 37 35 0 TP53INP1,splice_donor_variant,,ENST00000342697,NM_033285.3;TP53INP1,splice_donor_variant,,ENST00000448464,NM_001135733.1;NDUFAF6,intron_variant,,ENST00000396113,;NDUFAF6,intron_variant,,ENST00000519136,;NDUFAF6,intron_variant,,ENST00000523378,;AC087752.3,upstream_gene_variant,,ENST00000519034,;AC087752.3,upstream_gene_variant,,ENST00000523905,;,regulatory_region_variant,,ENSR00000227234,; C ENSG00000164938 ENST00000342697 Transcript splice_donor_variant 1 -1 TP53INP1 HGNC HGNC:18022 protein_coding YES CCDS6265.1 ENSP00000344215 Q96A56 A0A024R9C8 UPI00000725F8 NM_033285.3 1/3 HIGH 1 SNV 1 PASS TAC . . 94949152 TEK . GRCh38 chr9 27169600 27169600 + Missense_Mutation SNP C C G 7316-154 BS_MKSMSB6J C C c.599C>G p.Thr200Ser p.T200S ENST00000380036 4/23 91 86 5 44 43 0 TEK,missense_variant,p.Thr200Ser,ENST00000380036,NM_000459.4;TEK,missense_variant,p.Thr200Ser,ENST00000615002,;TEK,missense_variant,p.Thr200Ser,ENST00000406359,NM_001290077.1;TEK,missense_variant,p.Thr96Ser,ENST00000519097,NM_001290078.1;TEK,missense_variant,p.Thr53Ser,ENST00000519080,; G ENSG00000120156 ENST00000380036 Transcript missense_variant 1041/4760 599/3375 200/1124 T/S aCc/aGc COSM5948378,COSM5948379 1 1 TEK HGNC HGNC:11724 protein_coding YES CCDS6519.1 ENSP00000369375 Q02763 UPI000021121E NM_000459.4 tolerated(0.9) benign(0.029) 4/23 Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF125 1,1 MODERATE 1 SNV 1 1,1 1 PASS ACC . . 27169600 ARID3C . GRCh38 chr9 34627875 34627875 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.140A>C p.Asn47Thr p.N47T ENST00000378909 1/7 108 92 14 33 31 0 ARID3C,missense_variant,p.Asn47Thr,ENST00000378909,NM_001017363.1; G ENSG00000205143 ENST00000378909 Transcript missense_variant 233/1411 140/1239 47/412 N/T aAt/aCt 1 -1 ARID3C HGNC HGNC:21209 protein_coding YES CCDS35006.1 ENSP00000368189 A6NKF2 UPI0000509F06 NM_001017363.1 tolerated_low_confidence(0.14) benign(0.001) 1/7 hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF2,mobidb-lite MODERATE 1 SNV 2 PASS ATT . . 34627875 CA9 . GRCh38 chr9 35675920 35675920 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.593A>C p.Asn198Thr p.N198T ENST00000378357 3/11 115 92 17 46 45 0 CA9,missense_variant,p.Asn198Thr,ENST00000378357,NM_001216.2;CA9,missense_variant,p.Asn198Thr,ENST00000617161,;RN7SL22P,downstream_gene_variant,,ENST00000471800,;CA9,upstream_gene_variant,,ENST00000485665,;CA9,upstream_gene_variant,,ENST00000493245,;ARHGEF39,upstream_gene_variant,,ENST00000490638,;,regulatory_region_variant,,ENSR00000234668,; C ENSG00000107159 ENST00000378357 Transcript missense_variant 697/1618 593/1380 198/459 N/T aAt/aCt 1 1 CA9 HGNC HGNC:1383 protein_coding YES CCDS6585.1 ENSP00000367608 Q16790 A0A0S2Z3D0 UPI000013E02C NM_001216.2 deleterious(0) possibly_damaging(0.757) 3/11 Gene3D:3.10.200.10,PDB-ENSP_mappings:3iai.A,PDB-ENSP_mappings:3iai.B,PDB-ENSP_mappings:3iai.C,PDB-ENSP_mappings:3iai.D,PDB-ENSP_mappings:5dvx.A,PDB-ENSP_mappings:5dvx.B,PDB-ENSP_mappings:5fl4.A,PDB-ENSP_mappings:5fl4.B,PDB-ENSP_mappings:5fl4.C,PDB-ENSP_mappings:5fl4.D,PDB-ENSP_mappings:5fl5.A,PDB-ENSP_mappings:5fl5.B,PDB-ENSP_mappings:5fl5.C,PDB-ENSP_mappings:5fl5.D,PDB-ENSP_mappings:5fl6.A,PDB-ENSP_mappings:5fl6.B,PDB-ENSP_mappings:5fl6.C,PDB-ENSP_mappings:5fl6.D,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18,SMART_domains:SM01057,Superfamily_domains:SSF51069,cd03150 MODERATE 1 SNV 1 PASS AAT . . 35675920 MEGF9 . GRCh38 chr9 120714240 120714240 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.119A>C p.Asn40Thr p.N40T ENST00000373930 1/6 104 80 21 34 30 2 MEGF9,missense_variant,p.Asn40Thr,ENST00000373930,NM_001080497.2;,regulatory_region_variant,,ENSR00000240796,; G ENSG00000106780 ENST00000373930 Transcript missense_variant 231/6298 119/1809 40/602 N/T aAt/aCt 1 -1 MEGF9 HGNC HGNC:3234 protein_coding YES CCDS48010.2 ENSP00000363040 Q9H1U4 UPI000045779F NM_001080497.2 deleterious_low_confidence(0) benign(0.221) 1/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF298 MODERATE 1 SNV 2 PASS ATT . . 120714240 C9orf16 . GRCh38 chr9 128160408 128160408 + Translation_Start_Site SNP A A C novel 7316-154 BS_MKSMSB6J A A c.1A>C p.Met1? p.M1? ENST00000372994 1/2 107 85 14 45 45 0 C9orf16,start_lost,p.Met1?,ENST00000372994,NM_024112.3;C9orf16,non_coding_transcript_exon_variant,,ENST00000492588,;C9orf16,non_coding_transcript_exon_variant,,ENST00000489240,;C9orf16,upstream_gene_variant,,ENST00000486420,;,regulatory_region_variant,,ENSR00000241826,; C ENSG00000171159 ENST00000372994 Transcript start_lost 149/713 1/252 1/83 M/L Atg/Ctg 1 1 C9orf16 HGNC HGNC:17823 protein_coding YES CCDS6893.1 ENSP00000362085 Q9BUW7 UPI0000127982 NM_024112.3 tolerated(0.09) benign(0.006) 1/2 blastprodom:PD479232,Pfam_domain:PF03670,hmmpanther:PTHR34344,mobidb-lite HIGH 1 SNV 1 PASS AAT . . 128160408 PRRT1B . GRCh38 chr9 131545617 131545617 + Translation_Start_Site SNP T T G novel 7316-154 BS_MKSMSB6J T T c.2T>G p.Met1? p.M1? ENST00000636672 1/4 105 86 11 34 33 0 PRRT1B,start_lost,p.Met1?,ENST00000636672,;,regulatory_region_variant,,ENSR00000337990,; G ENSG00000283526 ENST00000636672 Transcript start_lost 104/1312 2/792 1/263 M/R aTg/aGg 1 1 PRRT1B HGNC HGNC:53642 protein_coding YES ENSP00000490857 A0A1B0GWB2 UPI0007E52AFB deleterious_low_confidence(0) unknown(0) 1/4 mobidb-lite HIGH 1 SNV 5 PASS ATG . . 131545617 UAP1L1 . GRCh38 chr9 137077825 137077825 + Splice_Region SNP A A C novel 7316-154 BS_MKSMSB6J A A c.289+4A>C ENST00000409858 97 75 15 41 39 0 UAP1L1,splice_region_variant,,ENST00000409858,NM_207309.2;UAP1L1,upstream_gene_variant,,ENST00000360271,;UAP1L1,splice_region_variant,,ENST00000476184,;UAP1L1,upstream_gene_variant,,ENST00000474787,;,regulatory_region_variant,,ENSR00000243133,; C ENSG00000197355 ENST00000409858 Transcript splice_region_variant,intron_variant 1 1 UAP1L1 HGNC HGNC:28082 protein_coding YES CCDS7028.2 ENSP00000386935 Q3KQV9 UPI000016047B NM_207309.2 1/8 LOW 1 SNV 1 PASS AAG . . 137077825 PITRM1 . GRCh38 chr10 3172772 3172772 + Translation_Start_Site SNP T T G 7316-154 BS_MKSMSB6J T T c.1A>C p.Met1? p.M1? ENST00000380989 1/27 90 75 13 47 47 0 PITRM1,start_lost,p.Met1?,ENST00000380989,NM_001242307.1,NM_001347728.1;PITRM1,start_lost,p.Met1?,ENST00000224949,NM_014889.3;PITRM1,missense_variant,p.Asn3Thr,ENST00000451104,NM_001242309.1,NM_001347725.1;PITRM1-AS1,downstream_gene_variant,,ENST00000598280,;,regulatory_region_variant,,ENSR00000023501,; G ENSG00000107959 ENST00000380989 Transcript start_lost 70/3487 1/3117 1/1038 M/L Atg/Ctg COSM4137963,COSM4137962,COSM4137961 1 -1 PITRM1 HGNC HGNC:17663 protein_coding YES CCDS55699.1 ENSP00000370377 Q5JRX3 UPI00015E00B2 NM_001242307.1,NM_001347728.1 deleterious_low_confidence(0) benign(0.01) 1/27 1,1,1 HIGH 1 SNV 1 1,1,1 PASS ATT . . 3172772 CAMK1D . GRCh38 chr10 12349819 12349819 + Translation_Start_Site SNP A A C novel 7316-154 BS_MKSMSB6J A A c.1A>C p.Met1? p.M1? ENST00000619168 1/11 118 98 12 41 40 0 CAMK1D,start_lost,p.Met1?,ENST00000619168,NM_153498.3;CAMK1D,start_lost,p.Met1?,ENST00000378845,NM_020397.3;CAMK1D,non_coding_transcript_exon_variant,,ENST00000487696,;,regulatory_region_variant,,ENSR00000024537,; C ENSG00000183049 ENST00000619168 Transcript start_lost 338/8153 1/1158 1/385 M/L Atg/Ctg 1 1 CAMK1D HGNC HGNC:19341 protein_coding YES CCDS7091.1 ENSP00000478874 Q8IU85 UPI000003CA33 NM_153498.3 deleterious_low_confidence(0.04) benign(0.267) 1/11 hmmpanther:PTHR24347:SF252,hmmpanther:PTHR24347,Gene3D:3.30.200.20 HIGH 1 SNV 1 PASS CAT . . 12349819 GPR158 . GRCh38 chr10 25176139 25176139 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.719A>C p.Asn240Thr p.N240T ENST00000376351 1/11 96 79 15 28 25 0 GPR158,missense_variant,p.Asn240Thr,ENST00000376351,NM_020752.2;GPR158-AS1,non_coding_transcript_exon_variant,,ENST00000449643,;,regulatory_region_variant,,ENSR00000258603,; C ENSG00000151025 ENST00000376351 Transcript missense_variant 1078/6959 719/3648 240/1215 N/T aAt/aCt 1 1 GPR158 HGNC HGNC:23689 protein_coding YES CCDS31166.1 ENSP00000365529 Q5T848 UPI0000199875 NM_020752.2 tolerated(0.48) benign(0.005) 1/11 hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Gene3D:3.30.450.20 MODERATE 1 SNV 1 PASS AAT . . 25176139 OGDHL . GRCh38 chr10 49762237 49762237 + Splice_Site SNP A A C novel 7316-154 BS_MKSMSB6J A A c.-2+2T>G ENST00000374103 105 97 8 51 50 0 OGDHL,splice_donor_variant,,ENST00000374103,NM_018245.2,NM_001347819.1;OGDHL,splice_donor_variant,,ENST00000419399,NM_001143996.1,NM_001347820.1;OGDHL,splice_donor_variant,,ENST00000432695,NM_001143997.1,NM_001347822.1;OGDHL,upstream_gene_variant,,ENST00000471460,;,regulatory_region_variant,,ENSR00000027918,; C ENSG00000197444 ENST00000374103 Transcript splice_donor_variant 1 -1 OGDHL HGNC HGNC:25590 protein_coding YES CCDS7234.1 ENSP00000363216 Q9ULD0 UPI000013D6A4 NM_018245.2,NM_001347819.1 1/22 HIGH 1 SNV 1 PASS CAC . . 49762237 CPXM2 . GRCh38 chr10 123891520 123891520 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.140A>C p.Tyr47Ser p.Y47S ENST00000241305 1/14 121 109 11 39 39 0 CPXM2,missense_variant,p.Tyr47Ser,ENST00000241305,NM_198148.2;CPXM2,5_prime_UTR_variant,,ENST00000615851,;CPXM2,intron_variant,,ENST00000368854,;CPXM2,upstream_gene_variant,,ENST00000481775,;,regulatory_region_variant,,ENSR00000034694,; G ENSG00000121898 ENST00000241305 Transcript missense_variant 295/3554 140/2271 47/756 Y/S tAc/tCc 1 -1 CPXM2 HGNC HGNC:26977 protein_coding YES CCDS7637.1 ENSP00000241305 Q8N436 UPI00001AE6BE NM_198148.2 tolerated_low_confidence(0.05) benign(0.011) 1/14 MODERATE 1 SNV 1 PASS GTA . . 123891520 TCERG1L . GRCh38 chr10 131311617 131311617 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.19T>G p.Phe7Val p.F7V ENST00000368642 1/12 95 65 15 33 32 0 TCERG1L,missense_variant,p.Phe7Val,ENST00000368642,NM_174937.3;,regulatory_region_variant,,ENSR00000035314,; C ENSG00000176769 ENST00000368642 Transcript missense_variant 105/2618 19/1761 7/586 F/V Ttc/Gtc 1 -1 TCERG1L HGNC HGNC:23533 protein_coding YES CCDS7662.2 ENSP00000357631 Q5VWI1 UPI00004589C8 NM_174937.3 tolerated_low_confidence(0.25) benign(0) 1/12 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 131311617 WEE1 . GRCh38 chr11 9574211 9574211 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.278T>G p.Leu93Arg p.L93R ENST00000450114 1/11 74 59 10 21 19 0 WEE1,missense_variant,p.Leu93Arg,ENST00000450114,NM_003390.3;WEE1,upstream_gene_variant,,ENST00000299613,NM_001143976.1;WEE1,upstream_gene_variant,,ENST00000524612,;RF01210,upstream_gene_variant,,ENST00000458785,;WEE1,upstream_gene_variant,,ENST00000524549,;,regulatory_region_variant,,ENSR00000036604,; G ENSG00000166483 ENST00000450114 Transcript missense_variant 531/2799 278/1941 93/646 L/R cTg/cGg 1 1 WEE1 HGNC HGNC:12761 protein_coding YES CCDS7800.1 ENSP00000402084 P30291 UPI0000138EF4 NM_003390.3 tolerated_low_confidence(0.51) benign(0.007) 1/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF72,PIRSF_domain:PIRSF037281 MODERATE 1 SNV 1 PASS CTG . . 9574211 AL035078.4 . GRCh38 chr11 31816612 31816612 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.74A>C p.Asn25Thr p.N25T ENST00000532942 1/6 126 113 10 31 30 0 AL035078.4,missense_variant,p.Asn25Thr,ENST00000532942,;PAX6,intron_variant,,ENST00000241001,NM_001127612.1;PAX6,intron_variant,,ENST00000379129,;PAX6,intron_variant,,ENST00000379132,;PAX6,intron_variant,,ENST00000423822,;AL035078.4,intron_variant,,ENST00000530348,;PAX6,intron_variant,,ENST00000638903,;PAX6,intron_variant,,ENST00000638965,;PAX6,intron_variant,,ENST00000645710,NM_001258462.1;PAX6,upstream_gene_variant,,ENST00000379111,;PAX6,upstream_gene_variant,,ENST00000455099,;PAX6,upstream_gene_variant,,ENST00000524853,;PAX6,upstream_gene_variant,,ENST00000525535,;PAX6,upstream_gene_variant,,ENST00000638685,;PAX6,upstream_gene_variant,,ENST00000638914,;PAX6,upstream_gene_variant,,ENST00000639409,NM_001258463.1;PAX6,upstream_gene_variant,,ENST00000639950,;PAX6,upstream_gene_variant,,ENST00000640431,;PAX6,upstream_gene_variant,,ENST00000640975,NM_001310158.1;PAUPAR,non_coding_transcript_exon_variant,,ENST00000644607,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000643436,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000642237,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000645942,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000642614,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000643931,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000646221,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000645824,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000643671,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000506388,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000645848,;PAUPAR,non_coding_transcript_exon_variant,,ENST00000642818,;PAUPAR,intron_variant,,ENST00000646959,;PAX6,intron_variant,,ENST00000640819,;PAX6,upstream_gene_variant,,ENST00000639203,;PAX6,intron_variant,,ENST00000532175,; C ENSG00000285283 ENST00000532942 Transcript missense_variant 229/1191 74/843 25/280 N/T aAc/aCc 1 1 AL035078.4 Clone_based_ensembl_gene protein_coding YES ENSP00000436422 Q15293 UPI0001914AB9 tolerated(1) benign(0) 1/6 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS AAC . . 31816612 LARGE2 . GRCh38 chr11 45922911 45922911 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.29T>G p.Leu10Arg p.L10R ENST00000531526 2/14 132 100 27 30 29 0 LARGE2,missense_variant,p.Leu10Arg,ENST00000531526,NM_152312.4;LARGE2,missense_variant,p.Leu10Arg,ENST00000325468,;LARGE2,missense_variant,p.Leu10Arg,ENST00000401752,NM_001300721.1;LARGE2,missense_variant,p.Leu10Arg,ENST00000529052,NM_001300722.1;PEX16,upstream_gene_variant,,ENST00000378750,NM_004813.2;PEX16,upstream_gene_variant,,ENST00000525192,;PEX16,upstream_gene_variant,,ENST00000532681,;LARGE2,upstream_gene_variant,,ENST00000534410,;LARGE2,upstream_gene_variant,,ENST00000414027,;LARGE2,upstream_gene_variant,,ENST00000525609,;LARGE2,upstream_gene_variant,,ENST00000528236,;PEX16,upstream_gene_variant,,ENST00000528674,;PEX16,upstream_gene_variant,,ENST00000529030,;LARGE2,upstream_gene_variant,,ENST00000530437,;,regulatory_region_variant,,ENSR00000039462,; G ENSG00000165905 ENST00000531526 Transcript missense_variant 140/2528 29/2166 10/721 L/R cTg/cGg 1 1 LARGE2 HGNC HGNC:16522 protein_coding YES CCDS31473.1 ENSP00000432869 Q8N3Y3 UPI000004B639 NM_152312.4 deleterious_low_confidence(0) benign(0.145) 2/14 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12270:SF23,hmmpanther:PTHR12270 MODERATE 1 SNV 2 PASS CTG . . 45922911 AHNAK . GRCh38 chr11 62522646 62522646 + Missense_Mutation SNP C C A 7316-154 BS_MKSMSB6J C C c.11771G>T p.Arg3924Leu p.R3924L ENST00000378024 5/5 96 84 6 31 31 0 AHNAK,missense_variant,p.Arg3924Leu,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 12046/18787 11771/17673 3924/5890 R/L cGa/cTa COSM6289522,COSM6289521 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 deleterious(0.04) benign(0.003) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 1,1 MODERATE 1 SNV 2 1,1 PASS TCG . . 62522646 AHNAK . GRCh38 chr11 62530459 62530459 + Missense_Mutation SNP C C T rs200652890 7316-154 BS_MKSMSB6J C C c.3958G>A p.Ala1320Thr p.A1320T ENST00000378024 5/5 97 76 10 33 33 0 AHNAK,missense_variant,p.Ala1320Thr,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000528508,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000531324,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 4233/18787 3958/17673 1320/5890 A/T Gcc/Acc rs200652890,COSM5956278,COSM5956277 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.25) benign(0.013) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GCC . . 2.03e-05 0.0001739 1.79e-05 62530459 PACS1 . GRCh38 chr11 66070495 66070495 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.9A>C p.Glu3Asp p.E3D ENST00000320580 1/24 95 78 15 34 34 0 PACS1,missense_variant,p.Glu3Asp,ENST00000320580,NM_018026.3;SF3B2,downstream_gene_variant,,ENST00000322535,NM_006842.2;SF3B2,downstream_gene_variant,,ENST00000528302,;SF3B2,downstream_gene_variant,,ENST00000530981,;AP006287.2,upstream_gene_variant,,ENST00000529036,;PACS1,non_coding_transcript_exon_variant,,ENST00000527224,;SF3B2,downstream_gene_variant,,ENST00000534765,;,regulatory_region_variant,,ENSR00000040927,; C ENSG00000175115 ENST00000320580 Transcript missense_variant 42/4392 9/2892 3/963 E/D gaA/gaC 1 1 PACS1 HGNC HGNC:30032 protein_coding YES CCDS8129.1 ENSP00000316454 Q6VY07 A0A024R5H6 UPI0000190973 NM_018026.3 deleterious_low_confidence(0) benign(0.125) 1/24 mobidb-lite MODERATE 1 SNV 1 1 PASS AAC . . 66070495 CARNS1 . GRCh38 chr11 67421209 67421209 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.1616A>C p.Tyr539Ser p.Y539S ENST00000445895 8/9 118 101 10 37 36 0 CARNS1,missense_variant,p.Tyr539Ser,ENST00000445895,NM_001166222.1;CARNS1,missense_variant,p.Tyr416Ser,ENST00000307823,NM_020811.1;CARNS1,missense_variant,p.Tyr513Ser,ENST00000531040,;PPP1CA,upstream_gene_variant,,ENST00000542876,;PPP1CA,upstream_gene_variant,,ENST00000546202,;CARNS1,downstream_gene_variant,,ENST00000529925,;CARNS1,non_coding_transcript_exon_variant,,ENST00000531388,;CARNS1,intron_variant,,ENST00000531958,;,regulatory_region_variant,,ENSR00000041104,; C ENSG00000172508 ENST00000445895 Transcript missense_variant 1730/3971 1616/2853 539/950 Y/S tAc/tCc 1 1 CARNS1 HGNC HGNC:29268 protein_coding YES CCDS53667.1 ENSP00000389009 A5YM72 UPI0001B99E02 NM_001166222.1 deleterious(0.02) possibly_damaging(0.487) 8/9 Gene3D:3.40.50.20,hmmpanther:PTHR10578,hmmpanther:PTHR10578:SF57 MODERATE 1 SNV 5 PASS TAC . . 67421209 ARRB1 . GRCh38 chr11 75283335 75283335 + Missense_Mutation SNP T T A novel 7316-154 BS_MKSMSB6J T T c.306A>T p.Glu102Asp p.E102D ENST00000420843 5/16 114 93 19 42 42 0 ARRB1,missense_variant,p.Glu102Asp,ENST00000420843,NM_004041.4;ARRB1,missense_variant,p.Glu102Asp,ENST00000360025,NM_020251.3;ARRB1,missense_variant,p.Glu97Asp,ENST00000532525,;ARRB1,upstream_gene_variant,,ENST00000532447,;ARRB1,3_prime_UTR_variant,,ENST00000524400,;ARRB1,3_prime_UTR_variant,,ENST00000527385,;ARRB1,3_prime_UTR_variant,,ENST00000533609,;ARRB1,non_coding_transcript_exon_variant,,ENST00000529280,;ARRB1,non_coding_transcript_exon_variant,,ENST00000533255,;ARRB1,upstream_gene_variant,,ENST00000530086,; A ENSG00000137486 ENST00000420843 Transcript missense_variant 404/3336 306/1257 102/418 E/D gaA/gaT 1 -1 ARRB1 HGNC HGNC:711 protein_coding YES CCDS44684.1 ENSP00000409581 P49407 UPI0000126076 NM_004041.4 tolerated(0.08) benign(0.023) 5/16 hmmpanther:PTHR11792:SF22,hmmpanther:PTHR11792,Gene3D:2.60.40.840,Pfam_domain:PF00339,Superfamily_domains:SSF81296 MODERATE 1 SNV 1 PASS GTT . . 75283335 MAP6 . GRCh38 chr11 75667801 75667801 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.569T>G p.Ile190Ser p.I190S ENST00000304771 1/4 130 107 18 44 41 1 MAP6,missense_variant,p.Ile190Ser,ENST00000434603,NM_207577.1;MAP6,missense_variant,p.Ile190Ser,ENST00000304771,NM_033063.1;MAP6,intron_variant,,ENST00000526740,;,regulatory_region_variant,,ENSR00000042185,; C ENSG00000171533 ENST00000304771 Transcript missense_variant 1320/3334 569/2442 190/813 I/S aTt/aGt 1 -1 MAP6 HGNC HGNC:6868 protein_coding YES CCDS31641.1 ENSP00000307093 Q96JE9 UPI0000251E6A NM_033063.1 tolerated_low_confidence(0.33) benign(0.003) 1/4 hmmpanther:PTHR14759,hmmpanther:PTHR14759:SF2,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 75667801 KMT2A . GRCh38 chr11 118436631 118436631 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.119T>G p.Leu40Arg p.L40R ENST00000534358 1/36 118 92 18 41 38 0 KMT2A,missense_variant,p.Leu40Arg,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Leu40Arg,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Leu40Arg,ENST00000531904,;KMT2A,upstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000529852,;KMT2A,upstream_gene_variant,,ENST00000532204,;KMT2A,upstream_gene_variant,,ENST00000533790,;AP001267.2,upstream_gene_variant,,ENST00000532619,;,regulatory_region_variant,,ENSR00000045630,; G ENSG00000118058 ENST00000534358 Transcript missense_variant 142/16602 119/11919 40/3972 L/R cTt/cGt 1 1 KMT2A HGNC HGNC:7132 protein_coding YES CCDS55791.1 ENSP00000436786 Q03164 UPI0001E5E732 NM_001197104.1 tolerated_low_confidence(0.28) benign(0.047) 1/36 PIRSF_domain:PIRSF010354,mobidb-lite MODERATE 1 SNV 1 1 PASS CTT . . 118436631 C2CD2L . GRCh38 chr11 119107906 119107906 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.165A>C p.Glu55Asp p.E55D ENST00000336702 1/14 92 69 17 27 25 0 C2CD2L,missense_variant,p.Glu55Asp,ENST00000336702,NM_001290474.1,NM_014807.4;DPAGT1,5_prime_UTR_variant,,ENST00000409993,;C2CD2L,upstream_gene_variant,,ENST00000528586,;C2CD2L,downstream_gene_variant,,ENST00000527854,;C2CD2L,downstream_gene_variant,,ENST00000528271,;C2CD2L,downstream_gene_variant,,ENST00000529600,;C2CD2L,downstream_gene_variant,,ENST00000529885,;C2CD2L,downstream_gene_variant,,ENST00000534024,;C2CD2L,upstream_gene_variant,,ENST00000525598,;C2CD2L,upstream_gene_variant,,ENST00000529874,;C2CD2L,upstream_gene_variant,,ENST00000533458,;,regulatory_region_variant,,ENSR00000045727,; C ENSG00000172375 ENST00000336702 Transcript missense_variant 524/4771 165/2124 55/707 E/D gaA/gaC 1 1 C2CD2L HGNC HGNC:29000 protein_coding YES CCDS8413.1 ENSP00000338885 O14523 UPI0000192105 NM_001290474.1,NM_014807.4 tolerated(0.33) benign(0.025) 1/14 hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF8,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 119107906 ABCG4 . GRCh38 chr11 119160266 119160266 + Missense_Mutation SNP A A G novel 7316-154 BS_MKSMSB6J A A c.1477A>G p.Met493Val p.M493V ENST00000619701 13/15 94 86 7 28 26 0 ABCG4,missense_variant,p.Met493Val,ENST00000619701,NM_022169.4,NM_001348191.1;ABCG4,missense_variant,p.Met493Val,ENST00000622721,;ABCG4,missense_variant,p.Met493Val,ENST00000615496,NM_001142505.1;ABCG4,non_coding_transcript_exon_variant,,ENST00000533694,;ABCG4,downstream_gene_variant,,ENST00000534402,; G ENSG00000172350 ENST00000619701 Transcript missense_variant 1841/3852 1477/1941 493/646 M/V Atg/Gtg 1 1 ABCG4 HGNC HGNC:13884 protein_coding YES CCDS8415.1 ENSP00000481728 Q9H172 UPI000000D999 NM_022169.4,NM_001348191.1 deleterious(0.01) possibly_damaging(0.779) 13/15 Pfam_domain:PF01061,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF211 MODERATE 1 SNV 1 PASS GAT . . 119160266 OR8B4 . GRCh38 chr11 124424211 124424211 + Missense_Mutation SNP G G C novel 7316-154 BS_MKSMSB6J G G c.661C>G p.Leu221Val p.L221V ENST00000356130 1/1 116 109 6 34 34 0 OR8B4,missense_variant,p.Leu221Val,ENST00000356130,NM_001005196.1; C ENSG00000280090 ENST00000356130 Transcript missense_variant 683/990 661/930 221/309 L/V Ctc/Gtc 1 -1 OR8B4 HGNC HGNC:8473 protein_coding YES CCDS31710.1 ENSP00000348449 Q96RC9 UPI00000015B0 NM_001005196.1 deleterious_low_confidence(0.04) possibly_damaging(0.591) 1/1 PROSITE_profiles:PS50262,cd15405,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF208,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS AGT . . 124424211 HEPACAM . GRCh38 chr11 124921171 124921171 + Missense_Mutation SNP T T G rs1305508185 7316-154 BS_MKSMSB6J T T c.1218A>C p.Gln406His p.Q406H ENST00000298251 7/7 117 100 12 38 38 0 HEPACAM,missense_variant,p.Gln406His,ENST00000298251,NM_152722.4;HEPN1,downstream_gene_variant,,ENST00000408930,NM_001037558.2;HEPACAM,downstream_gene_variant,,ENST00000526273,;HEPACAM,downstream_gene_variant,,ENST00000528971,;,regulatory_region_variant,,ENSR00000046460,; G ENSG00000165478 ENST00000298251 Transcript missense_variant 1624/3602 1218/1251 406/416 Q/H caA/caC rs1305508185 1 -1 HEPACAM HGNC HGNC:26361 protein_coding YES CCDS8456.1 ENSP00000298251 Q14CZ8 UPI000013E4B5 NM_152722.4 deleterious_low_confidence(0) benign(0) 7/7 mobidb-lite MODERATE 1 SNV 1 1 PASS CTT . . 124921171 TSPAN9 . GRCh38 chr12 3281327 3281327 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.562A>C p.Thr188Pro p.T188P ENST00000011898 7/9 116 99 13 44 43 0 TSPAN9,missense_variant,p.Thr188Pro,ENST00000011898,NM_006675.4;TSPAN9,missense_variant,p.Thr188Pro,ENST00000537971,NM_001168320.1;TSPAN9,missense_variant,p.Thr188Pro,ENST00000407263,;TSPAN9,downstream_gene_variant,,ENST00000640568,;TSPAN9,downstream_gene_variant,,ENST00000431374,;TSPAN9,downstream_gene_variant,,ENST00000492305,;TSPAN9,downstream_gene_variant,,ENST00000444315,; C ENSG00000011105 ENST00000011898 Transcript missense_variant,splice_region_variant 723/4323 562/720 188/239 T/P Acg/Ccg 1 1 TSPAN9 HGNC HGNC:21640 protein_coding YES CCDS8520.1 ENSP00000011898 O75954 UPI000004F1F1 NM_006675.4 tolerated(0.21) benign(0.433) 7/9 cd03165,hmmpanther:PTHR19282:SF41,hmmpanther:PTHR19282,Gene3D:1.10.1450.10,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:SSF48652 MODERATE 1 SNV 1 PASS AAC . . 3281327 APOLD1 . GRCh38 chr12 12786912 12786912 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.100A>C p.Met34Leu p.M34L ENST00000326765 2/2 92 77 14 37 37 0 APOLD1,missense_variant,p.Met34Leu,ENST00000326765,NM_001130415.1;APOLD1,missense_variant,p.Met3Leu,ENST00000356591,NM_030817.2;APOLD1,intron_variant,,ENST00000534843,;APOLD1,intron_variant,,ENST00000540583,;APOLD1,intron_variant,,ENST00000588943,;,regulatory_region_variant,,ENSR00000048986,; C ENSG00000178878 ENST00000326765 Transcript missense_variant 170/4724 100/840 34/279 M/L Atg/Ctg 1 1 APOLD1 HGNC HGNC:25268 protein_coding YES CCDS44833.1 ENSP00000324277 Q96LR9 UPI0000D4A841 NM_001130415.1 deleterious(0.03) benign(0.011) 2/2 hmmpanther:PTHR14096:SF1,hmmpanther:PTHR14096 MODERATE 1 SNV 1 PASS AAT . . 12786912 KMT2D . GRCh38 chr12 49041040 49041040 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.6730T>G p.Phe2244Val p.F2244V ENST00000301067 31/54 94 79 11 38 36 0 KMT2D,missense_variant,p.Phe2244Val,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,; C ENSG00000167548 ENST00000301067 Transcript missense_variant 6730/19419 6730/16614 2244/5537 F/V Ttc/Gtc 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 deleterious(0) possibly_damaging(0.815) 31/54 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,mobidb-lite MODERATE 1 SNV 5 1 PASS AAT . . 49041040 ITGB7 . GRCh38 chr12 53197588 53197588 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.479T>G p.Leu160Arg p.L160R ENST00000267082 5/16 113 95 12 30 30 0 ITGB7,missense_variant,p.Leu160Arg,ENST00000267082,NM_000889.2;ITGB7,missense_variant,p.Leu160Arg,ENST00000422257,;ITGB7,missense_variant,p.Leu160Arg,ENST00000550743,;ZNF740,downstream_gene_variant,,ENST00000416904,NM_001004304.3;ITGB7,downstream_gene_variant,,ENST00000549086,;ITGB7,downstream_gene_variant,,ENST00000552935,;ITGB7,downstream_gene_variant,,ENST00000552972,;ITGB7,missense_variant,p.Leu160Arg,ENST00000542497,;ITGB7,non_coding_transcript_exon_variant,,ENST00000589179,;ITGB7,non_coding_transcript_exon_variant,,ENST00000549462,;ITGB7,non_coding_transcript_exon_variant,,ENST00000549196,;ITGB7,upstream_gene_variant,,ENST00000548269,;ITGB7,upstream_gene_variant,,ENST00000548706,;ITGB7,upstream_gene_variant,,ENST00000551887,;,regulatory_region_variant,,ENSR00000052159,; C ENSG00000139626 ENST00000267082 Transcript missense_variant 711/2867 479/2397 160/798 L/R cTg/cGg 1 -1 ITGB7 HGNC HGNC:6162 protein_coding YES CCDS8849.1 ENSP00000267082 P26010 UPI0000000DF7 NM_000889.2 deleterious(0) probably_damaging(1) 5/16 Gene3D:2.60.40.1510,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,Prints_domain:PR01186,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF36,SMART_domains:SM00187,Superfamily_domains:SSF53300,cd00198 MODERATE 1 SNV 1 PASS CAG . . 53197588 IKZF4 . GRCh38 chr12 56035027 56035027 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.1454T>G p.Ile485Ser p.I485S ENST00000262032 12/12 119 103 16 35 34 0 IKZF4,missense_variant,p.Ile485Ser,ENST00000262032,NM_001351089.1;IKZF4,missense_variant,p.Ile485Ser,ENST00000431367,NM_001351091.1,NM_001351089.1;IKZF4,missense_variant,p.Ile485Ser,ENST00000547167,NM_022465.3;IKZF4,missense_variant,p.Ile440Ser,ENST00000547791,;AC034102.3,intron_variant,,ENST00000551846,;IKZF4,downstream_gene_variant,,ENST00000548601,;IKZF4,3_prime_UTR_variant,,ENST00000551103,;IKZF4,non_coding_transcript_exon_variant,,ENST00000551124,;IKZF4,downstream_gene_variant,,ENST00000547556,; G ENSG00000123411 ENST00000262032 Transcript missense_variant 1821/5229 1454/1758 485/585 I/S aTt/aGt 1 1 IKZF4 HGNC HGNC:13179 protein_coding YES CCDS44917.1 ENSP00000262032 Q9H2S9 UPI000022946D NM_001351089.1 tolerated(0.21) benign(0) 12/12 mobidb-lite,hmmpanther:PTHR24404:SF28,hmmpanther:PTHR24404,Gene3D:3.30.40.10 MODERATE SNV 5 PASS ATT . . 56035027 SOCS2 . GRCh38 chr12 93572929 93572929 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.32A>C p.Asn11Thr p.N11T ENST00000622746 2/3 96 83 12 28 26 1 SOCS2,missense_variant,p.Asn11Thr,ENST00000548537,;SOCS2,missense_variant,p.Asn11Thr,ENST00000622746,NM_001270469.1,NM_001270470.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000340600,NM_001270471.1,NM_003877.4;SOCS2,missense_variant,p.Asn11Thr,ENST00000549122,;SOCS2,missense_variant,p.Asn11Thr,ENST00000549206,NM_001270467.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000551556,;SOCS2,missense_variant,p.Asn11Thr,ENST00000536696,NM_001270468.1;SOCS2,missense_variant,p.Asn11Thr,ENST00000549887,;SOCS2,missense_variant,p.Asn11Thr,ENST00000548091,;SOCS2,downstream_gene_variant,,ENST00000547229,;SOCS2,upstream_gene_variant,,ENST00000549510,;SOCS2,upstream_gene_variant,,ENST00000551883,;SOCS2-AS1,upstream_gene_variant,,ENST00000499137,;SOCS2-AS1,upstream_gene_variant,,ENST00000500986,;SOCS2-AS1,upstream_gene_variant,,ENST00000551626,;,regulatory_region_variant,,ENSR00000055617,; C ENSG00000120833 ENST00000622746 Transcript missense_variant 751/2881 32/597 11/198 N/T aAt/aCt 1 1 SOCS2 HGNC HGNC:19382 protein_coding YES CCDS9047.1 ENSP00000481249 O14508 A0A024RBD2 UPI0000135B63 NM_001270469.1,NM_001270470.1 tolerated_low_confidence(0.07) benign(0) 2/3 hmmpanther:PTHR44396,hmmpanther:PTHR44396:SF2,mobidb-lite MODERATE SNV 3 PASS AAT . . 93572929 CABP1 . GRCh38 chr12 120660298 120660298 + Missense_Mutation SNP A A T novel 7316-154 BS_MKSMSB6J A A c.788A>T p.Glu263Val p.E263V ENST00000316803 3/6 108 89 19 47 44 0 CABP1,missense_variant,p.Glu199Val,ENST00000453000,;CABP1,missense_variant,p.Glu263Val,ENST00000316803,NM_001033677.1;CABP1,missense_variant,p.Glu120Val,ENST00000288616,NM_031205.3;CABP1,missense_variant,p.Glu60Val,ENST00000351200,NM_004276.4;CABP1,non_coding_transcript_exon_variant,,ENST00000498082,; T ENSG00000157782 ENST00000316803 Transcript missense_variant 922/1658 788/1113 263/370 E/V gAg/gTg 1 1 CABP1 HGNC HGNC:1384 protein_coding YES CCDS31913.1 ENSP00000317310 Q9NZU7 UPI00005B3D8A NM_001033677.1 deleterious(0) probably_damaging(0.998) 3/6 hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF304,Gene3D:1.10.238.10,Pfam_domain:PF13499,Superfamily_domains:SSF47473 MODERATE 1 SNV 1 PASS GAG . . 120660298 BRI3BP . GRCh38 chr12 124993792 124993792 + Translation_Start_Site SNP T T G novel 7316-154 BS_MKSMSB6J T T c.2T>G p.Met1? p.M1? ENST00000341446 1/3 62 46 8 30 29 0 BRI3BP,start_lost,p.Met1?,ENST00000341446,NM_080626.5;DHX37,upstream_gene_variant,,ENST00000308736,NM_032656.3;DHX37,upstream_gene_variant,,ENST00000539298,;,regulatory_region_variant,,ENSR00000059016,; G ENSG00000184992 ENST00000341446 Transcript start_lost 93/6648 2/756 1/251 M/R aTg/aGg 1 1 BRI3BP HGNC HGNC:14251 protein_coding YES CCDS9262.1 ENSP00000340761 Q8WY22 UPI000006D8B0 NM_080626.5 deleterious_low_confidence(0) benign(0.151) 1/3 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 124993792 POTEG . GRCh38 chr14 19434005 19434005 + Missense_Mutation SNP C C G novel 7316-154 BS_MKSMSB6J C C c.285G>C p.Arg95Ser p.R95S ENST00000547848 1/11 94 77 8 29 28 0 POTEG,missense_variant,p.Arg95Ser,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Arg95Ser,ENST00000547722,;POTEG,missense_variant,p.Arg95Ser,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; G ENSG00000187537 ENST00000547848 Transcript missense_variant 337/2204 285/1527 95/508 R/S agG/agC 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 tolerated_low_confidence(0.14) possibly_damaging(0.724) 1/11 Gene3D:1.25.40.20,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 MODERATE 1 SNV 1 PASS TCC . . 19434005 AL136295.3 . GRCh38 chr14 24131562 24131562 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.583A>C p.Asn195Thr p.N195T ENST00000558325 4/4 74 57 16 27 24 2 AL136295.3,missense_variant,p.Asn195Thr,ENST00000558325,;FITM1,5_prime_UTR_variant,,ENST00000267426,NM_203402.2;PSME1,upstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;PSME1,upstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,upstream_gene_variant,,ENST00000559123,;FITM1,upstream_gene_variant,,ENST00000559294,;PSME1,upstream_gene_variant,,ENST00000561435,NM_001281528.1;PSME1,upstream_gene_variant,,ENST00000470718,;PSME1,upstream_gene_variant,,ENST00000561059,;PSME1,upstream_gene_variant,,ENST00000561142,;,regulatory_region_variant,,ENSR00000066829,; C ENSG00000259371 ENST00000558325 Transcript missense_variant 583/850 584/851 195/283 N/T aAc/aCc 1 1 AL136295.3 Clone_based_ensembl_gene protein_coding YES ENSP00000453089 H0YL77 UPI0004620A05 deleterious_low_confidence(0.01) benign(0.024) 4/4 MODERATE SNV 5 PASS AAC . . 24131562 NPAS3 . GRCh38 chr14 33800592 33800592 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.2285A>C p.Asn762Thr p.N762T ENST00000356141 12/12 65 53 11 46 45 0 NPAS3,missense_variant,p.Asn730Thr,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Asn732Thr,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Asn767Thr,ENST00000551492,;NPAS3,missense_variant,p.Asn762Thr,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Asn749Thr,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Asn736Thr,ENST00000551634,; C ENSG00000151322 ENST00000356141 Transcript missense_variant 2285/2802 2285/2802 762/933 N/T aAc/aCc 1 1 NPAS3 HGNC HGNC:19311 protein_coding YES CCDS53891.1 ENSP00000348460 Q8IXF0 X5D2Q4 UPI00000743C2 NM_001164749.1 tolerated_low_confidence(1) benign(0) 12/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF30 MODERATE 1 SNV 1 PASS AAC . . 33800592 DACT1 . GRCh38 chr14 58646521 58646521 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.1898A>C p.Lys633Thr p.K633T ENST00000335867 4/4 79 62 15 27 27 0 DACT1,missense_variant,p.Lys596Thr,ENST00000395153,NM_001079520.1;DACT1,missense_variant,p.Lys352Thr,ENST00000541264,;DACT1,missense_variant,p.Lys633Thr,ENST00000335867,NM_016651.5;DACT1,missense_variant,p.Lys352Thr,ENST00000556859,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,; C ENSG00000165617 ENST00000335867 Transcript missense_variant 1922/2571 1898/2511 633/836 K/T aAg/aCg 1 1 DACT1 HGNC HGNC:17748 protein_coding YES CCDS9736.1 ENSP00000337439 Q9NYF0 UPI000013E4D3 NM_016651.5 deleterious(0.02) possibly_damaging(0.447) 4/4 Pfam_domain:PF15268,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAG . . 58646521 TTC9 . GRCh38 chr14 70642167 70642167 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.38A>C p.Asn13Thr p.N13T ENST00000256367 1/3 68 57 7 32 31 0 TTC9,missense_variant,p.Asn13Thr,ENST00000256367,NM_015351.1;AL357153.1,upstream_gene_variant,,ENST00000500016,;AL357153.3,upstream_gene_variant,,ENST00000553982,;,regulatory_region_variant,,ENSR00000070323,; C ENSG00000133985 ENST00000256367 Transcript missense_variant 381/5217 38/669 13/222 N/T aAc/aCc 1 1 TTC9 HGNC HGNC:20267 protein_coding YES CCDS45132.1 ENSP00000256367 Q92623 A0A024R6B1 UPI00001C1F60 NM_015351.1 tolerated_low_confidence(0.59) benign(0.005) 1/3 mobidb-lite,hmmpanther:PTHR43811,hmmpanther:PTHR43811:SF2 MODERATE 1 SNV 1 PASS AAC . . 70642167 FAM161B . GRCh38 chr14 73946560 73946560 + Missense_Mutation SNP G G C novel 7316-154 BS_MKSMSB6J G G c.289C>G p.Leu97Val p.L97V ENST00000286544 2/9 81 71 10 35 35 0 FAM161B,missense_variant,p.Leu97Val,ENST00000286544,NM_152445.2;COQ6,upstream_gene_variant,,ENST00000334571,NM_182476.2;COQ6,upstream_gene_variant,,ENST00000394026,NM_182480.2;COQ6,upstream_gene_variant,,ENST00000554320,;COQ6,upstream_gene_variant,,ENST00000554920,;COQ6,upstream_gene_variant,,ENST00000629426,;COQ6,upstream_gene_variant,,ENST00000555552,;COQ6,upstream_gene_variant,,ENST00000553462,;COQ6,upstream_gene_variant,,ENST00000553922,;COQ6,upstream_gene_variant,,ENST00000554193,;COQ6,upstream_gene_variant,,ENST00000554217,;COQ6,upstream_gene_variant,,ENST00000554341,;COQ6,upstream_gene_variant,,ENST00000555196,;COQ6,upstream_gene_variant,,ENST00000556300,;COQ6,upstream_gene_variant,,ENST00000557205,;COQ6,upstream_gene_variant,,ENST00000557584,; C ENSG00000156050 ENST00000286544 Transcript missense_variant 488/4078 289/2133 97/710 L/V Ctg/Gtg 1 -1 FAM161B HGNC HGNC:19854 protein_coding YES CCDS9822.2 ENSP00000286544 Q96MY7 UPI000206535E NM_152445.2 tolerated(0.26) possibly_damaging(0.864) 2/9 hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF4 MODERATE 1 SNV 1 PASS AGC . . 73946560 CCNK . GRCh38 chr14 99510748 99510748 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.1709T>G p.Val570Gly p.V570G ENST00000389879 11/11 51 41 8 35 35 0 CCNK,missense_variant,p.Val570Gly,ENST00000389879,NM_001099402.1;CCDC85C,3_prime_UTR_variant,,ENST00000380243,NM_001144995.1;CCNK,intron_variant,,ENST00000555049,;CCDC85C,downstream_gene_variant,,ENST00000554877,;CCDC85C,downstream_gene_variant,,ENST00000554996,;CCDC85C,downstream_gene_variant,,ENST00000555822,;CCDC85C,downstream_gene_variant,,ENST00000557576,;CCDC85C,downstream_gene_variant,,ENST00000557769,;AL110504.1,upstream_gene_variant,,ENST00000557733,;CCNK,non_coding_transcript_exon_variant,,ENST00000553865,; G ENSG00000090061 ENST00000389879 Transcript missense_variant 1832/3524 1709/1743 570/580 V/G gTt/gGt 1 1 CCNK HGNC HGNC:1596 protein_coding YES CCDS45160.1 ENSP00000374529 O75909 A0A024R6K1 UPI00001FDB50 NM_001099402.1 tolerated_low_confidence(0.05) benign(0.003) 11/11 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTT . . 99510748 MAGEL2 . GRCh38 chr15 23647597 23647597 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.146T>G p.Ile49Ser p.I49S ENST00000532292 1/1 110 98 8 39 38 0 MAGEL2,missense_variant,p.Ile49Ser,ENST00000532292,NM_019066.4;,regulatory_region_variant,,ENSR00000074051,; C ENSG00000254585 ENST00000532292 Transcript missense_variant 245/4298 146/3750 49/1249 I/S aTt/aGt 1 -1 MAGEL2 HGNC HGNC:6814 protein_coding YES CCDS73700.1 ENSP00000433433 Q9UJ55 UPI0001B3CB28 NM_019066.4 tolerated_low_confidence(0.05) unknown(0) 1/1 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 23647597 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 109 74 15 42 42 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 CDAN1 . GRCh38 chr15 42737092 42737092 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.11T>G p.Val4Gly p.V4G ENST00000356231 1/28 105 91 7 35 33 0 CDAN1,missense_variant,p.Val4Gly,ENST00000356231,NM_138477.2;TTBK2,downstream_gene_variant,,ENST00000267890,NM_173500.3;CDAN1,upstream_gene_variant,,ENST00000563260,;AC090510.1,upstream_gene_variant,,ENST00000500850,;AC090510.1,upstream_gene_variant,,ENST00000567456,;CDAN1,missense_variant,p.Val4Gly,ENST00000643434,;,regulatory_region_variant,,ENSR00000075790,; C ENSG00000140326 ENST00000356231 Transcript missense_variant 37/4657 11/3684 4/1227 V/G gTt/gGt 1 -1 CDAN1 HGNC HGNC:1713 protein_coding YES CCDS32209.1 ENSP00000348564 Q8IWY9 UPI0000229BCB NM_138477.2 deleterious(0) possibly_damaging(0.899) 1/28 hmmpanther:PTHR28678 MODERATE 1 SNV 1 1 PASS AAC . . 42737092 GNB5 . GRCh38 chr15 52179854 52179854 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.152A>C p.Asn51Thr p.N51T ENST00000261837 3/13 114 99 13 35 34 0 GNB5,missense_variant,p.Asn51Thr,ENST00000261837,NM_016194.3;GNB5,missense_variant,p.Asn9Thr,ENST00000396335,;GNB5,missense_variant,p.Asn9Thr,ENST00000358784,NM_006578.3;GNB5,missense_variant,p.Asn9Thr,ENST00000560116,;CERNA1,upstream_gene_variant,,ENST00000559779,;CERNA1,upstream_gene_variant,,ENST00000560518,;GNB5,missense_variant,p.Asn9Thr,ENST00000561313,;GNB5,non_coding_transcript_exon_variant,,ENST00000560075,;,regulatory_region_variant,,ENSR00000076690,; G ENSG00000069966 ENST00000261837 Transcript missense_variant 218/8906 152/1188 51/395 N/T aAc/aCc 1 -1 GNB5 HGNC HGNC:4401 protein_coding YES CCDS10149.1 ENSP00000261837 O14775 A0A024R5V3 UPI000006E214 NM_016194.3 tolerated(0.56) benign(0) 3/13 Coiled-coils_(Ncoils):Coil,Gene3D:2.130.10.10,PIRSF_domain:PIRSF002394,hmmpanther:PTHR19850:SF36,hmmpanther:PTHR19850 MODERATE SNV 5 1 PASS GTT . . 52179854 SLC6A2 . GRCh38 chr16 55685283 55685283 + Splice_Site SNP T T C 7316-154 BS_MKSMSB6J T T c.783+2T>C p.X261_splice ENST00000219833 79 71 8 49 46 1 SLC6A2,splice_donor_variant,,ENST00000219833,NM_001172504.1;SLC6A2,splice_donor_variant,,ENST00000379906,NM_001043.3;SLC6A2,splice_donor_variant,,ENST00000414754,;SLC6A2,splice_donor_variant,,ENST00000561820,;SLC6A2,splice_donor_variant,,ENST00000566163,;SLC6A2,splice_donor_variant,,ENST00000567238,NM_001172502.1;SLC6A2,splice_donor_variant,,ENST00000568529,;SLC6A2,splice_donor_variant,,ENST00000568943,NM_001172501.1; C ENSG00000103546 ENST00000219833 Transcript splice_donor_variant COSM4970779,COSM4970778 1 1 SLC6A2 HGNC HGNC:11048 protein_coding YES CCDS54011.1 ENSP00000219833 P23975 UPI00000734FD NM_001172504.1 4/13 1,1 HIGH 1 SNV 5 1,1 1 PASS GTA . . 55685283 AC092723.4 . GRCh38 chr16 85984605 85984605 + Splice_Region SNP G G T novel 7316-154 BS_MKSMSB6J G G n.70-6C>A ENST00000645754 90 80 10 35 35 0 AC092723.4,splice_region_variant,,ENST00000645754,;AC092723.1,non_coding_transcript_exon_variant,,ENST00000599411,;AC092723.3,downstream_gene_variant,,ENST00000644960,;,regulatory_region_variant,,ENSR00000089106,; T ENSG00000285040 ENST00000645754 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AC092723.4 Clone_based_ensembl_gene lincRNA YES 1/2 LOW SNV PASS AGA . . 85984605 ZZEF1 . GRCh38 chr17 4142894 4142894 + Translation_Start_Site SNP A A C novel 7316-154 BS_MKSMSB6J A A c.2T>G p.Met1? p.M1? ENST00000381638 1/55 120 107 12 44 44 0 ZZEF1,start_lost,p.Met1?,ENST00000381638,NM_015113.3;CYB5D2,upstream_gene_variant,,ENST00000301391,NM_144611.3;CYB5D2,upstream_gene_variant,,ENST00000573984,;CYB5D2,upstream_gene_variant,,ENST00000575251,NM_001254755.1;CYB5D2,upstream_gene_variant,,ENST00000577075,NM_001254756.1;ZZEF1,non_coding_transcript_exon_variant,,ENST00000574474,;,regulatory_region_variant,,ENSR00000090423,; C ENSG00000074755 ENST00000381638 Transcript start_lost 127/11456 2/8886 1/2961 M/R aTg/aGg 1 -1 ZZEF1 HGNC HGNC:29027 protein_coding YES CCDS11043.1 ENSP00000371051 O43149 UPI00004569F7 NM_015113.3 deleterious_low_confidence(0) benign(0.211) 1/55 hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF4,mobidb-lite HIGH 1 SNV 1 PASS CAT . . 4142894 KRT16P2 . GRCh38 chr17 16830095 16830096 + Splice_Site DEL TG TG - rs199829457 7316-154 BS_MKSMSB6J TG TG n.1329-3_1329-2del ENST00000414673 37 23 9 10 10 0 KRT16P2,downstream_gene_variant,,ENST00000579062,;,regulatory_region_variant,,ENSR00000282606,;KRT16P2,splice_acceptor_variant,,ENST00000414673,; - ENSG00000227300 ENST00000414673 Transcript splice_acceptor_variant,intron_variant,non_coding_transcript_variant rs199829457 1 -1 KRT16P2 HGNC HGNC:37807 transcribed_unprocessed_pseudogene YES 7/7 HIGH 1 deletion PASS ACTGT . . 16830094 FDXR . GRCh38 chr17 74863925 74863925 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.1274A>C p.Asn425Thr p.N425T ENST00000442102 10/12 101 92 6 42 42 0 FDXR,missense_variant,p.Asn425Thr,ENST00000442102,NM_001258012.3;FDXR,missense_variant,p.Asn382Thr,ENST00000293195,NM_024417.4;FDXR,missense_variant,p.Asn330Thr,ENST00000544854,NM_001258016.3;FDXR,missense_variant,p.Asn388Thr,ENST00000581530,NM_004110.5;FDXR,missense_variant,p.Asn413Thr,ENST00000413947,NM_001258013.3;FDXR,missense_variant,p.Asn374Thr,ENST00000582944,NM_001258014.3;FDXR,missense_variant,p.Asn354Thr,ENST00000583917,;FDXR,missense_variant,p.Asn342Thr,ENST00000420580,NM_001258015.2;GRIN2C,upstream_gene_variant,,ENST00000293190,NM_000835.4;GRIN2C,upstream_gene_variant,,ENST00000347612,NM_001278553.1;FDXR,downstream_gene_variant,,ENST00000579893,;FDXR,downstream_gene_variant,,ENST00000581219,;GRIN2C,upstream_gene_variant,,ENST00000578159,;FDXR,downstream_gene_variant,,ENST00000581969,;FDXR,3_prime_UTR_variant,,ENST00000579482,;FDXR,3_prime_UTR_variant,,ENST00000577509,;FDXR,non_coding_transcript_exon_variant,,ENST00000578473,;FDXR,intron_variant,,ENST00000583881,;FDXR,downstream_gene_variant,,ENST00000577932,;FDXR,downstream_gene_variant,,ENST00000579543,;FDXR,downstream_gene_variant,,ENST00000580492,;FDXR,downstream_gene_variant,,ENST00000582710,;GRIN2C,upstream_gene_variant,,ENST00000584176,;GRIN2C,upstream_gene_variant,,ENST00000584496,; G ENSG00000161513 ENST00000442102 Transcript missense_variant 1361/1967 1274/1605 425/534 N/T aAt/aCt 1 -1 FDXR HGNC HGNC:3642 protein_coding YES CCDS58595.1 ENSP00000416515 A0A0A0MT64 UPI0004620E76 NM_001258012.3 deleterious(0.01) possibly_damaging(0.868) 10/12 PIRSF_domain:PIRSF000362,hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF91,Superfamily_domains:SSF51971 MODERATE SNV 2 1 PASS ATT . . 74863925 TNRC6C . GRCh38 chr17 78051340 78051342 + In_Frame_Del DEL ACC ACC - rs749258605 7316-154 BS_MKSMSB6J ACC ACC c.2295_2297del p.Thr768del p.T768del ENST00000335749 3/21 85 67 7 36 34 0 TNRC6C,inframe_deletion,p.Thr768del,ENST00000335749,NM_001142640.1;TNRC6C,inframe_deletion,p.Thr768del,ENST00000301624,NM_018996.3;TNRC6C,inframe_deletion,p.Thr768del,ENST00000588847,;TNRC6C,inframe_deletion,p.Thr768del,ENST00000588061,;TNRC6C,inframe_deletion,p.Thr978del,ENST00000636222,;TNRC6C,intron_variant,,ENST00000585438,;TNRC6C,downstream_gene_variant,,ENST00000588549,;TNRC6C,non_coding_transcript_exon_variant,,ENST00000591851,; - ENSG00000078687 ENST00000335749 Transcript inframe_deletion 2847-2849/9740 2278-2280/5181 760/1726 T/- ACC/- rs749258605 1 1 TNRC6C HGNC HGNC:29318 protein_coding YES CCDS45799.1 ENSP00000336783 Q9HCJ0 UPI0000EE5F80 NM_001142640.1 3/21 Gene3D:1.10.8.10,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9,mobidb-lite,Low_complexity_(Seg):seg 0.01684 0.01828 MODERATE 1 deletion 5 17 PASS ATACCA . . 0.0002705 0.0004215 0.0002253 0.0001259 0.0003252 0.0003116 0.0003791 4.637e-05 78051339 CCDC137 . GRCh38 chr17 81672583 81672583 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.749T>G p.Ile250Ser p.I250S ENST00000329214 6/6 118 103 14 47 47 0 CCDC137,missense_variant,p.Ile250Ser,ENST00000329214,NM_199287.2;CCDC137,missense_variant,p.Ile259Ser,ENST00000574107,;CCDC137,missense_variant,p.Ile250Ser,ENST00000575223,;CCDC137,3_prime_UTR_variant,,ENST00000571916,;CCDC137,downstream_gene_variant,,ENST00000572531,;CCDC137,downstream_gene_variant,,ENST00000574200,; G ENSG00000185298 ENST00000329214 Transcript missense_variant 1152/2468 749/870 250/289 I/S aTt/aGt 1 1 CCDC137 HGNC HGNC:33451 protein_coding YES CCDS42400.1 ENSP00000329360 Q6PK04 UPI00001983C7 NM_199287.2 deleterious(0) possibly_damaging(0.885) 6/6 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21838 MODERATE 1 SNV 1 PASS ATT . . 81672583 MIER2 . GRCh38 chr19 308588 308588 + Missense_Mutation SNP C C T novel 7316-154 BS_MKSMSB6J C C c.1187G>A p.Gly396Glu p.G396E ENST00000264819 12/14 105 89 11 40 39 0 MIER2,missense_variant,p.Gly396Glu,ENST00000264819,NM_017550.1;MIER2,missense_variant,p.Gly61Glu,ENST00000619835,;AC016588.1,downstream_gene_variant,,ENST00000591533,; T ENSG00000105556 ENST00000264819 Transcript missense_variant 1187/6884 1187/1638 396/545 G/E gGg/gAg 1 -1 MIER2 HGNC HGNC:29210 protein_coding YES CCDS32855.1 ENSP00000264819 Q8N344 UPI00001AE8C2 NM_017550.1 tolerated(1) benign(0.026) 12/14 hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF27,mobidb-lite MODERATE 1 SNV 1 PASS CCC . . 308588 ABCA7 . GRCh38 chr19 1063620 1063620 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.5789A>C p.Asn1930Thr p.N1930T ENST00000263094 43/47 96 82 10 40 39 0 ABCA7,missense_variant,p.Asn1930Thr,ENST00000263094,NM_019112.3;ABCA7,missense_variant,p.Asn1930Thr,ENST00000433129,;ABCA7,missense_variant,p.Asn1792Thr,ENST00000435683,;ABCA7,missense_variant,p.Asn375Thr,ENST00000525073,;ABCA7,missense_variant,p.Asn71Thr,ENST00000612569,;ARHGAP45,upstream_gene_variant,,ENST00000313093,NM_012292.4;ARHGAP45,upstream_gene_variant,,ENST00000539243,NM_001258328.2;ARHGAP45,upstream_gene_variant,,ENST00000586866,NM_001321232.1;ARHGAP45,upstream_gene_variant,,ENST00000587186,;ARHGAP45,upstream_gene_variant,,ENST00000590214,;ABCA7,upstream_gene_variant,,ENST00000524383,;ABCA7,non_coding_transcript_exon_variant,,ENST00000525939,;ABCA7,downstream_gene_variant,,ENST00000529442,;ABCA7,upstream_gene_variant,,ENST00000531478,;ABCA7,downstream_gene_variant,,ENST00000532194,;ARHGAP45,upstream_gene_variant,,ENST00000587602,;ARHGAP45,upstream_gene_variant,,ENST00000591293,; C ENSG00000064687 ENST00000263094 Transcript missense_variant 6020/6816 5789/6441 1930/2146 N/T aAc/aCc 1 1 ABCA7 HGNC HGNC:37 protein_coding YES CCDS12055.1 ENSP00000263094 Q8IZY2 UPI000013D3A4 NM_019112.3 deleterious(0) possibly_damaging(0.893) 43/47 PROSITE_profiles:PS50893,cd03263,hmmpanther:PTHR19229:SF49,hmmpanther:PTHR19229,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540 MODERATE SNV 5 1 PASS AAC . . 1063620 SBNO2 . GRCh38 chr19 1108519 1108519 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.3802T>G p.Phe1268Val p.F1268V ENST00000361757 32/32 93 79 12 31 29 0 SBNO2,missense_variant,p.Phe1268Val,ENST00000361757,NM_014963.2;SBNO2,missense_variant,p.Phe1258Val,ENST00000587024,;SBNO2,missense_variant,p.Phe1211Val,ENST00000438103,NM_001100122.1;GPX4,downstream_gene_variant,,ENST00000354171,NM_002085.4;GPX4,downstream_gene_variant,,ENST00000585362,;GPX4,downstream_gene_variant,,ENST00000587648,;GPX4,downstream_gene_variant,,ENST00000588919,;GPX4,downstream_gene_variant,,ENST00000589115,;GPX4,downstream_gene_variant,,ENST00000593032,;GPX4,downstream_gene_variant,,ENST00000611653,;GPX4,downstream_gene_variant,,ENST00000614791,;GPX4,downstream_gene_variant,,ENST00000616066,NM_001039847.2;GPX4,downstream_gene_variant,,ENST00000622390,NM_001039848.2;GPX4,downstream_gene_variant,,ENST00000585480,;SBNO2,downstream_gene_variant,,ENST00000586109,;SBNO2,downstream_gene_variant,,ENST00000587673,;GPX4,downstream_gene_variant,,ENST00000587932,;GPX4,downstream_gene_variant,,ENST00000592940,;,regulatory_region_variant,,ENSR00000105621,; C ENSG00000064932 ENST00000361757 Transcript missense_variant 4040/4923 3802/4101 1268/1366 F/V Ttc/Gtc 1 -1 SBNO2 HGNC HGNC:29158 protein_coding YES CCDS45894.1 ENSP00000354733 Q9Y2G9 UPI0000140680 NM_014963.2 tolerated_low_confidence(0.28) benign(0.048) 32/32 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAG . . 1108519 ARRDC5 . GRCh38 chr19 4902637 4902637 + Missense_Mutation SNP G G T novel 7316-154 BS_MKSMSB6J G G c.231C>A p.Ser77Arg p.S77R ENST00000381781 1/3 88 73 15 41 41 0 ARRDC5,missense_variant,p.Ser77Arg,ENST00000381781,NM_001080523.1;UHRF1,upstream_gene_variant,,ENST00000612630,NM_001290050.1; T ENSG00000205784 ENST00000381781 Transcript missense_variant 231/1638 231/1029 77/342 S/R agC/agA 1 -1 ARRDC5 HGNC HGNC:31407 protein_coding YES CCDS45929.1 ENSP00000371200 A6NEK1 UPI0000DD84C9 NM_001080523.1 tolerated(0.2) probably_damaging(0.999) 1/3 hmmpanther:PTHR11188:SF75,hmmpanther:PTHR11188,Pfam_domain:PF00339,Gene3D:2.60.40.640,Superfamily_domains:SSF81296 MODERATE 1 SNV 3 PASS TGC . . 4902637 ZNF90 . GRCh38 chr19 20118734 20118734 + Nonsense_Mutation SNP A A T 7316-154 BS_MKSMSB6J A A c.1180A>T p.Lys394Ter p.K394* ENST00000418063 4/4 77 63 12 42 42 0 ZNF90,stop_gained,p.Lys394Ter,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,downstream_gene_variant,,ENST00000473524,;ZNF90,upstream_gene_variant,,ENST00000484032,; T ENSG00000213988 ENST00000418063 Transcript stop_gained 1292/2310 1180/1806 394/601 K/* Aag/Tag COSM6304493 1 1 ZNF90 HGNC HGNC:13165 protein_coding YES CCDS46028.1 ENSP00000410466 Q03938 UPI00002376E6 NM_007138.1 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF92,hmmpanther:PTHR24384,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 1 HIGH 1 SNV 1 1 PASS AAA . . 20118734 ZNF43 . GRCh38 chr19 21808995 21808995 + Missense_Mutation SNP C C A novel 7316-154 BS_MKSMSB6J C C c.1069G>T p.Gly357Cys p.G357C ENST00000357491 4/4 80 65 12 55 54 0 ZNF43,missense_variant,p.Gly342Cys,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Gly357Cys,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Gly342Cys,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Gly342Cys,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Gly348Cys,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; A ENSG00000198521 ENST00000357491 Transcript missense_variant 1203/5249 1069/2457 357/818 G/C Ggc/Tgc 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 deleterious(0) probably_damaging(0.999) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CCA . . 21808995 ZNF43 . GRCh38 chr19 21808996 21808996 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.1068T>G p.Cys356Trp p.C356W ENST00000357491 4/4 80 65 12 55 54 0 ZNF43,missense_variant,p.Cys341Trp,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Cys356Trp,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Cys341Trp,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Cys341Trp,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Cys347Trp,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; C ENSG00000198521 ENST00000357491 Transcript missense_variant 1202/5249 1068/2457 356/818 C/W tgT/tgG 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 deleterious(0) probably_damaging(0.994) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CAC . . 21808996 NOVA2 . GRCh38 chr19 45973351 45973351 + Translation_Start_Site SNP T T G novel 7316-154 BS_MKSMSB6J T T c.1A>C p.Met1? p.M1? ENST00000263257 1/4 45 30 11 31 28 2 NOVA2,start_lost,p.Met1?,ENST00000263257,NM_002516.3;NOVA2,upstream_gene_variant,,ENST00000599462,;,regulatory_region_variant,,ENSR00000110296,; G ENSG00000104967 ENST00000263257 Transcript start_lost 196/7803 1/1479 1/492 M/L Atg/Ctg 1 -1 NOVA2 HGNC HGNC:7887 protein_coding YES CCDS12679.1 ENSP00000263257 Q9UNW9 UPI000006EBE8 NM_002516.3 tolerated_low_confidence(0.93) benign(0) 1/4 hmmpanther:PTHR10288:SF162,hmmpanther:PTHR10288 HIGH 1 SNV 1 PASS ATG . . 45973351 ZC3H4 . GRCh38 chr19 47066906 47066906 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.3362A>C p.Tyr1121Ser p.Y1121S ENST00000253048 15/15 110 99 9 28 26 0 ZC3H4,missense_variant,p.Tyr1121Ser,ENST00000253048,NM_015168.1;ZC3H4,missense_variant,p.Tyr728Ser,ENST00000601973,;ZC3H4,non_coding_transcript_exon_variant,,ENST00000594019,; G ENSG00000130749 ENST00000253048 Transcript missense_variant 3400/6119 3362/3912 1121/1303 Y/S tAc/tCc 1 -1 ZC3H4 HGNC HGNC:17808 protein_coding YES CCDS42582.1 ENSP00000253048 Q9UPT8 UPI00001C2000 NM_015168.1 deleterious(0.04) probably_damaging(0.997) 15/15 hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF23,mobidb-lite MODERATE 1 SNV 1 PASS GTA . . 47066906 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 125 103 18 44 43 1 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 ZNF347 . GRCh38 chr19 53141063 53141063 + Missense_Mutation SNP C C T rs746706460 7316-154 BS_MKSMSB6J C C c.1768G>A p.Gly590Arg p.G590R ENST00000452676 5/5 82 72 6 39 39 0 ZNF347,missense_variant,p.Gly589Arg,ENST00000334197,NM_032584.2;ZNF347,missense_variant,p.Gly590Arg,ENST00000452676,NM_001172674.1;ZNF347,missense_variant,p.Gly590Arg,ENST00000601469,NM_001172675.1;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000595967,;ZNF347,downstream_gene_variant,,ENST00000597183,; T ENSG00000197937 ENST00000452676 Transcript missense_variant 2195/4553 1768/2523 590/840 G/R Gga/Aga rs746706460 1 -1 ZNF347 HGNC HGNC:16447 protein_coding YES CCDS54314.1 ENSP00000405218 Q96SE7 A0A024R4L7 UPI000059D78C NM_001172674.1 tolerated(1) benign(0.006) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF625,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CCC . . 8.549e-06 1.834e-05 53141063 ZNF865 . GRCh38 chr19 55615092 55615092 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.1474T>G p.Tyr492Asp p.Y492D ENST00000568956 2/2 90 63 20 36 32 0 ZNF865,missense_variant,p.Tyr492Asp,ENST00000568956,NM_001195605.1;ZNF865,upstream_gene_variant,,ENST00000630143,;AC008735.4,upstream_gene_variant,,ENST00000614815,;,regulatory_region_variant,,ENSR00000111687,; G ENSG00000261221 ENST00000568956 Transcript missense_variant 1828/4005 1474/3180 492/1059 Y/D Tac/Gac 1 1 ZNF865 HGNC HGNC:38705 protein_coding YES CCDS58681.1 ENSP00000457715 P0CJ78 UPI0000D6181D NM_001195605.1 tolerated(0.08) unknown(0) 2/2 Gene3D:3.30.160.60,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF62,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS GTA . . 55615092 ZCCHC3 . GRCh38 chr20 297781 297781 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.195A>C p.Glu65Asp p.E65D ENST00000500893 1/1 92 74 14 25 25 0 ZCCHC3,missense_variant,p.Glu65Asp,ENST00000500893,NM_033089.6;,regulatory_region_variant,,ENSR00000133395,; C ENSG00000247315 ENST00000500893 Transcript missense_variant 814/3354 195/1212 65/403 E/D gaA/gaC 1 1 ZCCHC3 HGNC HGNC:16230 protein_coding YES CCDS42844.1 ENSP00000484056 Q9NUD5 UPI0000072273 NM_033089.6 tolerated_low_confidence(0.1) benign(0) 1/1 hmmpanther:PTHR22639,hmmpanther:PTHR22639:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV PASS AAA . . 297781 SCRT2 . GRCh38 chr20 675471 675471 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.131A>C p.Asn44Thr p.N44T ENST00000246104 1/2 110 84 16 37 37 0 SCRT2,missense_variant,p.Asn44Thr,ENST00000246104,NM_033129.3;AL121758.1,missense_variant,p.Asn44Thr,ENST00000488788,;,regulatory_region_variant,,ENSR00000133465,; G ENSG00000215397 ENST00000246104 Transcript missense_variant,splice_region_variant 709/3577 131/924 44/307 N/T aAc/aCc 1 -1 SCRT2 HGNC HGNC:15952 protein_coding YES CCDS13006.1 ENSP00000246104 Q9NQ03 UPI00002318AA NM_033129.3 tolerated(0.14) benign(0.018) 1/2 mobidb-lite,hmmpanther:PTHR44270,hmmpanther:PTHR44270:SF3 MODERATE 1 SNV 1 PASS GTT . . 675471 PARD6B . GRCh38 chr20 50731835 50731835 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.49A>C p.Met17Leu p.M17L ENST00000371610 1/3 118 101 10 28 27 0 PARD6B,missense_variant,p.Met17Leu,ENST00000371610,NM_032521.2;PARD6B,missense_variant,p.Met17Leu,ENST00000396039,;,regulatory_region_variant,,ENSR00000138556,; C ENSG00000124171 ENST00000371610 Transcript missense_variant 292/4615 49/1119 17/372 M/L Atg/Ctg 1 1 PARD6B HGNC HGNC:16245 protein_coding YES CCDS33485.1 ENSP00000360672 Q9BYG5 UPI000006FA7C NM_032521.2 tolerated(0.23) benign(0.001) 1/3 Gene3D:3.10.20.90,Pfam_domain:PF00564,PROSITE_profiles:PS51745,hmmpanther:PTHR14102,hmmpanther:PTHR14102:SF4,SMART_domains:SM00666,Superfamily_domains:SSF54277,cd06403 MODERATE 1 SNV 1 PASS TAT . . 50731835 ADNP . GRCh38 chr20 50892106 50892106 + Missense_Mutation SNP T T C rs765500234 7316-154 BS_MKSMSB6J T T c.2608A>G p.Lys870Glu p.K870E ENST00000371602 3/3 86 79 5 43 43 0 ADNP,missense_variant,p.Lys870Glu,ENST00000371602,;ADNP,missense_variant,p.Lys870Glu,ENST00000396029,NM_015339.3;ADNP,missense_variant,p.Lys870Glu,ENST00000621696,NM_001282531.1,NM_001347511.1;ADNP,missense_variant,p.Lys870Glu,ENST00000396032,NM_181442.2;ADNP,missense_variant,p.Lys642Glu,ENST00000645081,;ADNP,missense_variant,p.Lys870Glu,ENST00000349014,NM_001282532.1;ADNP,intron_variant,,ENST00000644386,;ADNP,downstream_gene_variant,,ENST00000534467,;ADNP,downstream_gene_variant,,ENST00000642364,; C ENSG00000101126 ENST00000371602 Transcript missense_variant 4170/7360 2608/3309 870/1102 K/E Aag/Gag rs765500234 1 -1 ADNP HGNC HGNC:15766 protein_coding YES CCDS13433.1 ENSP00000360662 Q9H2P0 UPI00000375B9 tolerated_low_confidence(0.5) benign(0.157) 3/3 hmmpanther:PTHR15740,hmmpanther:PTHR15740:SF1,mobidb-lite MODERATE 1 SNV 1 1 PASS TTC . . 4.07e-06 3.249e-05 50892106 SOX18 . GRCh38 chr20 64049289 64049289 + Missense_Mutation SNP T T G novel 7316-154 BS_MKSMSB6J T T c.228A>C p.Glu76Asp p.E76D ENST00000340356 1/2 64 49 14 46 46 0 SOX18,missense_variant,p.Glu76Asp,ENST00000340356,NM_018419.2;TCEA2,upstream_gene_variant,,ENST00000475792,;,regulatory_region_variant,,ENSR00000140010,; G ENSG00000203883 ENST00000340356 Transcript missense_variant 353/1864 228/1155 76/384 E/D gaA/gaC 1 -1 SOX18 HGNC HGNC:11194 protein_coding YES CCDS13552.1 ENSP00000341815 P35713 UPI0000001C70 NM_018419.2 tolerated(0.28) benign(0.017) 1/2 hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF204,Superfamily_domains:SSF47095,mobidb-lite MODERATE 1 SNV 1 1 PASS GTT . . 64049289 COL6A2 . GRCh38 chr21 46120567 46120567 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.1385A>C p.Lys462Thr p.K462T ENST00000300527 16/28 124 102 13 37 37 0 COL6A2,missense_variant,p.Lys462Thr,ENST00000300527,NM_001849.3;COL6A2,missense_variant,p.Lys462Thr,ENST00000310645,NM_058175.2;COL6A2,missense_variant,p.Lys462Thr,ENST00000409416,;COL6A2,missense_variant,p.Lys462Thr,ENST00000397763,NM_058174.2;COL6A2,missense_variant,p.Lys3Thr,ENST00000413758,;COL6A2,downstream_gene_variant,,ENST00000485591,; C ENSG00000142173 ENST00000300527 Transcript missense_variant 1489/3461 1385/3060 462/1019 K/T aAa/aCa 1 1 COL6A2 HGNC HGNC:2212 protein_coding YES CCDS13728.1 ENSP00000300527 P12110 UPI00001AECE0 NM_001849.3 deleterious(0.04) benign(0.158) 16/28 Pfam_domain:PF01391,hmmpanther:PTHR44172,hmmpanther:PTHR44172:SF1,mobidb-lite MODERATE 1 SNV 1 1 PASS AAA . . 46120567 IGLV5-45 . GRCh38 chr22 22376041 22376041 + Missense_Mutation SNP T T C rs368274086 7316-154 BS_MKSMSB6J T T c.28T>C p.Phe10Leu p.F10L ENST00000390296 1/2 100 87 12 58 58 0 IGLV5-45,missense_variant,p.Phe10Leu,ENST00000390296,;IGLV1-44,upstream_gene_variant,,ENST00000390297,;AC245291.3,downstream_gene_variant,,ENST00000443400,; C ENSG00000211650 ENST00000390296 Transcript missense_variant 56/397 28/369 10/123 F/L Ttc/Ctc rs368274086 1 1 IGLV5-45 HGNC HGNC:5924 IG_V_gene YES ENSP00000374831 A0A087WSX0 UPI0004620A24 tolerated(1) benign(0) 1/2 MODERATE 1 SNV PASS GTT . . 0.0003195 0.000703 8.282e-05 0.0001932 0.0001291 0.0006034 0.0002587 8.58e-05 22376041 SHANK3 . GRCh38 chr22 50720588 50720588 + Missense_Mutation SNP A A C novel 7316-154 BS_MKSMSB6J A A c.2752A>C p.Lys918Gln p.K918Q ENST00000262795 24/25 63 53 9 32 31 0 SHANK3,missense_variant,p.Lys918Gln,ENST00000262795,;SHANK3,missense_variant,p.Lys912Gln,ENST00000445220,NM_033517.1;SHANK3,non_coding_transcript_exon_variant,,ENST00000414786,;,regulatory_region_variant,,ENSR00000147760,; C ENSG00000251322 ENST00000262795 Transcript missense_variant 2752/7091 2752/5193 918/1730 K/Q Aag/Cag 1 1 SHANK3 HGNC HGNC:14294 protein_coding YES ENSP00000489147 A0A0U1RQS4 UPI00071AFB18 tolerated(0.24) possibly_damaging(0.786) 24/25 hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS CAA . . 50720588 CRYBG2 . GRCh38 chr1 26344848 26344848 + Missense_Mutation SNP A A C rs1408165281 7316-946 BS_95W988HQ A A c.2782T>G p.Cys928Gly p.C928G ENST00000475866 4/22 88 76 9 32 29 0 CRYBG2,missense_variant,p.Cys928Gly,ENST00000475866,;CRYBG2,missense_variant,p.Cys604Gly,ENST00000308182,NM_001039775.3;CRYBG2,missense_variant,p.Cys604Gly,ENST00000527815,;CRYBG2,downstream_gene_variant,,ENST00000640960,;CRYBG2,intron_variant,,ENST00000374207,; C ENSG00000176092 ENST00000475866 Transcript missense_variant 2813/6259 2782/5958 928/1985 C/G Tgt/Ggt rs1408165281 1 -1 CRYBG2 HGNC HGNC:17295 protein_coding YES ENSP00000428746 E7ET48 UPI000D18D1C8 tolerated_low_confidence(1) benign(0) 4/22 hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF50,mobidb-lite MODERATE 1 SNV 4 PASS CAG . . 0.0004524 0.001485 0.0008656 0.0001448 0.001667 0.0002204 0.001283 0.0004124 26344848 RPTN . GRCh38 chr1 152155955 152155955 + Missense_Mutation SNP G G T rs1380153993 7316-946 BS_95W988HQ G G c.1144C>A p.Pro382Thr p.P382T ENST00000316073 3/3 70 56 11 51 46 1 RPTN,missense_variant,p.Pro382Thr,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; T ENSG00000215853 ENST00000316073 Transcript missense_variant 1209/3569 1144/2355 382/784 P/T Cca/Aca rs1380153993 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 MODERATE 1 SNV 1 PASS GGC . . 152155955 FLG2 . GRCh38 chr1 152355334 152355334 + Missense_Mutation SNP C C A rs201979853 7316-946 BS_95W988HQ C C c.2452G>T p.Ala818Ser p.A818S ENST00000388718 3/3 77 58 11 51 49 1 FLG2,missense_variant,p.Ala818Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 2525/9124 2452/7176 818/2391 A/S Gct/Tct rs201979853,COSM5950887 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCG . . 2.404e-05 0.0001749 1.012e-05 0.0002303 3.854e-05 152355334 IVL . GRCh38 chr1 152911017 152911017 + Missense_Mutation SNP T T A rs539289670 7316-946 BS_95W988HQ T T c.1220T>A p.Val407Glu p.V407E ENST00000368764 2/2 81 63 11 32 31 0 IVL,missense_variant,p.Val407Glu,ENST00000368764,NM_005547.2; A ENSG00000163207 ENST00000368764 Transcript missense_variant 1284/2153 1220/1758 407/585 V/E gTg/gAg rs539289670,COSM5034148 1 1 IVL HGNC HGNC:6187 protein_coding YES CCDS1030.1 ENSP00000357753 P07476 UPI000013E24A NM_005547.2 tolerated(1) benign(0.036) 2/2 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00904,mobidb-lite,Low_complexity_(Seg):seg 0.0008 0.0014 0.0031 0,1 MODERATE 1 SNV 2 0,1 PASS GTG . . 1.776e-05 0.0001126 152911017 CADM3 . GRCh38 chr1 159171767 159171767 + Translation_Start_Site SNP T T G novel 7316-946 BS_95W988HQ T T c.2T>G p.Met1? p.M1? ENST00000368124 1/10 91 84 5 32 32 0 CADM3,start_lost,p.Met1?,ENST00000368125,NM_001127173.1;CADM3,start_lost,p.Met1?,ENST00000368124,NM_021189.3;CADM3,start_lost,p.Met1?,ENST00000416746,;,regulatory_region_variant,,ENSR00000014426,; G ENSG00000162706 ENST00000368124 Transcript start_lost 159/2546 2/1299 1/432 M/R aTg/aGg 1 1 CADM3 HGNC HGNC:17601 protein_coding YES CCDS1182.1 ENSP00000357106 Q8N126 UPI000006E8A2 NM_021189.3 deleterious_low_confidence(0) possibly_damaging(0.774) 1/10 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATG . . 159171767 NENF . GRCh38 chr1 212432944 212432944 + Translation_Start_Site SNP A A C novel 7316-946 BS_95W988HQ A A c.1A>C p.Met1? p.M1? ENST00000366988 1/4 78 67 8 31 29 1 NENF,start_lost,p.Met1?,ENST00000366988,NM_013349.4;NENF,non_coding_transcript_exon_variant,,ENST00000479589,;NENF,upstream_gene_variant,,ENST00000472389,;NENF,upstream_gene_variant,,ENST00000473900,;,regulatory_region_variant,,ENSR00000019704,; C ENSG00000117691 ENST00000366988 Transcript start_lost 58/949 1/519 1/172 M/L Atg/Ctg 1 1 NENF HGNC HGNC:30384 protein_coding YES CCDS1505.1 ENSP00000355955 Q9UMX5 UPI000006E19B NM_013349.4 deleterious_low_confidence(0.05) benign(0.001) 1/4 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF39 HIGH 1 SNV 1 PASS CAT . . 212432944 ZNF678 . GRCh38 chr1 227655620 227655620 + Missense_Mutation SNP A A T 7316-946 BS_95W988HQ A A c.1370A>T p.Glu457Val p.E457V ENST00000343776 4/4 58 43 6 50 46 0 ZNF678,missense_variant,p.Glu457Val,ENST00000343776,;ZNF678,missense_variant,p.Glu457Val,ENST00000397097,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,NM_178549.3;ZNF678,downstream_gene_variant,,ENST00000465266,; T ENSG00000181450 ENST00000343776 Transcript missense_variant 1715/8556 1370/1578 457/525 E/V gAa/gTa COSM4744663,COSM349983 1 1 ZNF678 HGNC HGNC:28652 protein_coding YES ENSP00000344828 Q5SXM1 UPI000019862A deleterious(0.03) benign(0.036) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF714,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS GAA . . 227655620 EGLN1 . GRCh38 chr1 231421667 231421667 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.222T>G p.His74Gln p.H74Q ENST00000366641 1/5 67 55 11 31 30 0 EGLN1,missense_variant,p.His74Gln,ENST00000366641,NM_022051.2;EGLN1,upstream_gene_variant,,ENST00000476717,;,regulatory_region_variant,,ENSR00000021720,; C ENSG00000135766 ENST00000366641 Transcript missense_variant 3378/7097 222/1281 74/426 H/Q caT/caG 1 -1 EGLN1 HGNC HGNC:1232 protein_coding YES CCDS1595.1 ENSP00000355601 Q9GZT9 R4SCQ0 UPI0000050C90 NM_022051.2 tolerated(0.71) benign(0) 1/5 mobidb-lite,hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF4,Gene3D:3.90.1410.10 MODERATE 1 SNV 1 1 PASS AAT . . 231421667 CYS1 . GRCh38 chr2 10080223 10080223 + Translation_Start_Site SNP T T G novel 7316-946 BS_95W988HQ T T c.1A>C p.Met1? p.M1? ENST00000381813 1/3 62 48 11 35 32 2 CYS1,start_lost,p.Met1?,ENST00000381813,NM_001037160.2;AC104794.1,upstream_gene_variant,,ENST00000425235,;CYS1,intron_variant,,ENST00000477304,;,regulatory_region_variant,,ENSR00000112720,; G ENSG00000205795 ENST00000381813 Transcript start_lost 189/2738 1/477 1/158 M/L Atg/Ctg 1 -1 CYS1 HGNC HGNC:18525 protein_coding YES CCDS33145.1 ENSP00000371234 Q717R9 UPI00001D6281 NM_001037160.2 deleterious(0) benign(0.274) 1/3 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 10080223 GFPT1 . GRCh38 chr2 69387070 69387070 + Translation_Start_Site SNP A A C rs1416585953 7316-946 BS_95W988HQ A A c.2T>G p.Met1? p.M1? ENST00000357308 1/20 102 80 16 40 37 1 GFPT1,start_lost,p.Met1?,ENST00000357308,NM_001244710.1;GFPT1,start_lost,p.Met1?,ENST00000361060,NM_002056.3;GFPT1,non_coding_transcript_exon_variant,,ENST00000494201,;,regulatory_region_variant,,ENSR00000118552,; C ENSG00000198380 ENST00000357308 Transcript start_lost 185/8703 2/2100 1/699 M/R aTg/aGg rs1416585953,CD136904 1 -1 GFPT1 HGNC HGNC:4241 protein_coding YES CCDS58713.1 ENSP00000349860 Q06210 UPI000015C8AD NM_001244710.1 deleterious(0) benign(0.432) 1/20 hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF2 HIGH 1 SNV 5 0,1 1 PASS CAT . . 7.665e-06 2.031e-05 69387070 ALMS1 . GRCh38 chr2 73385869 73385869 + Translation_Start_Site SNP A A C rs1429891881 7316-946 BS_95W988HQ A A c.1A>C p.Met1? p.M1? ENST00000613296 1/23 78 47 11 29 28 1 ALMS1,start_lost,p.Met1?,ENST00000613296,NM_015120.4;ALMS1,start_lost,p.Met1?,ENST00000484298,;ALMS1,start_lost,p.Met1?,ENST00000614410,;AC074008.2,upstream_gene_variant,,ENST00000646469,;,regulatory_region_variant,,ENSR00000119053,; C ENSG00000116127 ENST00000613296 Transcript start_lost 112/12925 1/12507 1/4168 M/L Atg/Ctg rs1429891881 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 deleterious(0) possibly_damaging(0.875) 1/23 mobidb-lite HIGH 1 SNV 1 1 PASS CAT . . 7.962e-06 4.282e-05 73385869 VWA3B . GRCh38 chr2 98290626 98290627 + Splice_Region INS - - T rs368082214 7316-946 BS_95W988HQ - - c.3157+17dup ENST00000477737 75 50 17 29 25 0 VWA3B,splice_region_variant,,ENST00000473149,;VWA3B,splice_region_variant,,ENST00000477737,NM_144992.4;VWA3B,splice_region_variant,,ENST00000614454,;VWA3B,splice_region_variant,,ENST00000490947,;VWA3B,splice_region_variant,,ENST00000432242,;VWA3B,splice_region_variant,,ENST00000489630,;VWA3B,splice_region_variant,,ENST00000495571,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;,regulatory_region_variant,,ENSR00000292436,; T ENSG00000168658 ENST00000477737 Transcript splice_region_variant,intron_variant rs368082214,TMP_ESP_2_98907090_98907090 1 1 VWA3B HGNC HGNC:28385 protein_coding YES CCDS42718.1 ENSP00000417955 Q502W6 UPI0000E9B173 NM_144992.4 23/27 0.1465 0.122 LOW 1 insertion 1 13 1 PASS AGT . . 0.2439 0.253 0.2847 0.3074 0.287 0.1865 0.2083 0.2409 0.336 98290626 PDK1 . GRCh38 chr2 172556325 172556325 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.175A>C p.Met59Leu p.M59L ENST00000392571 1/12 78 68 7 35 34 0 PDK1,start_lost,p.Met1?,ENST00000416991,;PDK1,missense_variant,p.Met59Leu,ENST00000282077,;PDK1,missense_variant,p.Met59Leu,ENST00000410055,NM_002610.4;PDK1,missense_variant,p.Met59Leu,ENST00000392571,NM_001278549.1;PDK1,intron_variant,,ENST00000443353,;PDK1,upstream_gene_variant,,ENST00000439519,;AC078883.1,non_coding_transcript_exon_variant,,ENST00000450443,;AC078883.1,non_coding_transcript_exon_variant,,ENST00000442417,;AC078883.1,non_coding_transcript_exon_variant,,ENST00000436922,;AC078883.1,non_coding_transcript_exon_variant,,ENST00000444919,;RF00019,downstream_gene_variant,,ENST00000362996,;PDK1,missense_variant,p.Met59Leu,ENST00000431718,;PDK1,intron_variant,,ENST00000436490,;,regulatory_region_variant,,ENSR00000126340,; C ENSG00000152256 ENST00000392571 Transcript missense_variant 319/1515 175/1371 59/456 M/L Atg/Ctg 1 1 PDK1 HGNC HGNC:8809 protein_coding YES CCDS63059.1 ENSP00000376352 Q15118 UPI0000D6BFDD NM_001278549.1 tolerated(0.34) benign(0.027) 1/12 hmmpanther:PTHR11947:SF14,hmmpanther:PTHR11947,Gene3D:1.20.140.20,Pfam_domain:PF10436,Superfamily_domains:SSF69012 MODERATE 1 SNV 1 PASS CAT . . 172556325 SP9 . GRCh38 chr2 174336933 174336933 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.848T>G p.Ile283Arg p.I283R ENST00000394967 2/2 85 70 9 41 39 0 SP9,missense_variant,p.Ile283Arg,ENST00000394967,NM_001145250.1;AC018470.1,non_coding_transcript_exon_variant,,ENST00000624790,;,regulatory_region_variant,,ENSR00000126567,; G ENSG00000217236 ENST00000394967 Transcript missense_variant 995/2554 848/1455 283/484 I/R aTa/aGa 1 1 SP9 HGNC HGNC:30690 protein_coding YES CCDS46453.1 ENSP00000378418 P0CG40 UPI0000EE2E67 NM_001145250.1 tolerated(0.21) benign(0.026) 2/2 Low_complexity_(Seg):seg,hmmpanther:PTHR23235:SF26,hmmpanther:PTHR23235,Gene3D:3.30.160.60 MODERATE 1 SNV 5 PASS ATA . . 174336933 HNRNPA3 . GRCh38 chr2 177212875 177212875 + Splice_Region SNP T T G novel 7316-946 BS_95W988HQ T T c.72+4T>G ENST00000392524 67 53 10 27 25 0 HNRNPA3,splice_region_variant,,ENST00000392524,NM_194247.2;HNRNPA3,splice_region_variant,,ENST00000435711,;HNRNPA3,intron_variant,,ENST00000411529,NM_001330247.1;HNRNPA3,upstream_gene_variant,,ENST00000432457,;MIR4444-1,downstream_gene_variant,,ENST00000581696,;AC079305.3,upstream_gene_variant,,ENST00000455416,;,regulatory_region_variant,,ENSR00000126852,; G ENSG00000170144 ENST00000392524 Transcript splice_region_variant,intron_variant 1 1 HNRNPA3 HGNC HGNC:24941 protein_coding YES CCDS2273.1 ENSP00000376309 P51991 UPI00001BE8DE NM_194247.2 1/10 LOW 1 SNV 5 PASS ATT . . 177212875 NBEAL1 . GRCh38 chr2 203014981 203014981 + Splice_Region SNP A A C novel 7316-946 BS_95W988HQ A A c.-231A>C ENST00000449802 1/55 87 75 10 28 28 0 NBEAL1,splice_region_variant,,ENST00000449802,NM_001114132.1;NBEAL1,splice_region_variant,,ENST00000478884,;WDR12,upstream_gene_variant,,ENST00000477723,;NBEAL1,upstream_gene_variant,,ENST00000492870,;NBEAL1,splice_region_variant,,ENST00000497505,;NBEAL1,upstream_gene_variant,,ENST00000460416,;,regulatory_region_variant,,ENSR00000128994,; C ENSG00000144426 ENST00000449802 Transcript splice_region_variant,5_prime_UTR_variant 103/10938 1 1 NBEAL1 HGNC HGNC:20681 protein_coding YES CCDS46495.1 ENSP00000399903 Q6ZS30 UPI000194EC27 NM_001114132.1 1/55 LOW 1 SNV 5 PASS AAT . . 203014981 B3GNT7 . GRCh38 chr2 231395805 231395805 + Translation_Start_Site SNP T T G novel 7316-946 BS_95W988HQ T T c.2T>G p.Met1? p.M1? ENST00000287590 1/2 91 69 11 42 40 0 B3GNT7,start_lost,p.Met1?,ENST00000287590,NM_145236.2;AC017104.1,downstream_gene_variant,,ENST00000415129,;AC017104.1,downstream_gene_variant,,ENST00000454416,;B3GNT7,upstream_gene_variant,,ENST00000479618,;AC017104.1,downstream_gene_variant,,ENST00000418050,;,regulatory_region_variant,,ENSR00000131820,; G ENSG00000156966 ENST00000287590 Transcript start_lost 263/3706 2/1206 1/401 M/R aTg/aGg 1 1 B3GNT7 HGNC HGNC:18811 protein_coding YES CCDS46540.1 ENSP00000287590 Q8NFL0 UPI000006D18A NM_145236.2 deleterious_low_confidence(0) benign(0.059) 1/2 HIGH 1 SNV 1 PASS ATG . . 231395805 GBX2 . GRCh38 chr2 236167835 236167835 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.137T>G p.Met46Arg p.M46R ENST00000306318 1/2 75 66 7 29 28 0 GBX2,missense_variant,p.Met46Arg,ENST00000306318,NM_001485.3;GBX2,missense_variant,p.Met46Arg,ENST00000551105,NM_001301687.1;AC019068.1,intron_variant,,ENST00000415226,;AC019068.1,intron_variant,,ENST00000483218,;GBX2,upstream_gene_variant,,ENST00000465889,;,regulatory_region_variant,,ENSR00000132442,; C ENSG00000168505 ENST00000306318 Transcript missense_variant 535/2123 137/1047 46/348 M/R aTg/aGg 1 -1 GBX2 HGNC HGNC:4186 protein_coding YES CCDS2515.1 ENSP00000302251 P52951 UPI000012B273 NM_001485.3 deleterious(0) benign(0.022) 1/2 hmmpanther:PTHR24334,hmmpanther:PTHR24334:SF3 MODERATE 1 SNV 1 PASS CAT . . 236167835 CDCP1 . GRCh38 chr3 45112083 45112083 + Missense_Mutation SNP G G A rs776485141 7316-946 BS_95W988HQ G G c.655C>T p.Arg219Cys p.R219C ENST00000296129 3/9 73 45 26 27 25 0 CDCP1,missense_variant,p.Arg219Cys,ENST00000296129,NM_022842.4;CDCP1,missense_variant,p.Arg219Cys,ENST00000425231,NM_178181.2;CDCP1,downstream_gene_variant,,ENST00000490471,; A ENSG00000163814 ENST00000296129 Transcript missense_variant,splice_region_variant 790/6006 655/2511 219/836 R/C Cgt/Tgt rs776485141 1 -1 CDCP1 HGNC HGNC:24357 protein_coding YES CCDS2727.1 ENSP00000296129 Q9H5V8 UPI000013E304 NM_022842.4 deleterious(0) probably_damaging(1) 3/9 hmmpanther:PTHR14477 MODERATE 1 SNV 1 PASS CGT . . 3.265e-05 5.958e-05 5.404e-05 45112083 HYAL3 . GRCh38 chr3 50295476 50295476 + Missense_Mutation SNP C C T rs1321607025 7316-946 BS_95W988HQ C C c.127G>A p.Glu43Lys p.E43K ENST00000336307 2/4 81 69 7 30 30 0 HYAL3,missense_variant,p.Glu43Lys,ENST00000336307,NM_003549.3;HYAL3,missense_variant,p.Glu43Lys,ENST00000621157,NM_001200029.1;HYAL3,missense_variant,p.Glu43Lys,ENST00000359051,;HYAL3,missense_variant,p.Glu43Lys,ENST00000450982,NM_001200030.1;HYAL3,missense_variant,p.Glu43Lys,ENST00000435141,;HYAL3,intron_variant,,ENST00000415204,NM_001200031.1;HYAL3,intron_variant,,ENST00000513170,NM_001200032.1;HYAL1,downstream_gene_variant,,ENST00000266031,;HYAL1,downstream_gene_variant,,ENST00000320295,NM_153281.1;NAA80,downstream_gene_variant,,ENST00000354862,NM_012191.3;HYAL1,downstream_gene_variant,,ENST00000395143,NM_153282.2;HYAL1,downstream_gene_variant,,ENST00000395144,NM_033159.3;NAA80,downstream_gene_variant,,ENST00000417393,NM_001200018.1;IFRD2,upstream_gene_variant,,ENST00000417626,NM_006764.4;IFRD2,upstream_gene_variant,,ENST00000436390,;NAA80,downstream_gene_variant,,ENST00000442620,;NAA80,downstream_gene_variant,,ENST00000443094,NM_001200016.1;NAA80,downstream_gene_variant,,ENST00000443842,;NAA80,downstream_gene_variant,,ENST00000450489,;NAA80,downstream_gene_variant,,ENST00000452674,;HYAL1,downstream_gene_variant,,ENST00000618175,;IFRD2,upstream_gene_variant,,ENST00000468737,;IFRD2,upstream_gene_variant,,ENST00000484043,;IFRD2,upstream_gene_variant,,ENST00000414734,;IFRD2,upstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000474556,;IFRD2,upstream_gene_variant,,ENST00000489569,; T ENSG00000186792 ENST00000336307 Transcript missense_variant 400/1942 127/1254 43/417 E/K Gag/Aag rs1321607025,COSM6213567 1 -1 HYAL3 HGNC HGNC:5322 protein_coding YES CCDS2815.1 ENSP00000337425 O43820 A0A024R2Y7 UPI000006E0AC NM_003549.3 tolerated(1) benign(0) 2/4 Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,PIRSF_domain:PIRSF500776,Prints_domain:PR00846,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF19,Superfamily_domains:SSF51445 0,1 MODERATE 1 SNV 1 0,1 PASS TCA . . 50295476 PLXNA1 . GRCh38 chr3 127028331 127028331 + Missense_Mutation SNP A A C 7316-946 BS_95W988HQ A A c.4660A>C p.Met1554Leu p.M1554L ENST00000393409 24/31 90 83 7 29 29 0 PLXNA1,missense_variant,p.Met1554Leu,ENST00000393409,NM_032242.3;PLXNA1,upstream_gene_variant,,ENST00000505278,;PLXNA1,non_coding_transcript_exon_variant,,ENST00000503234,;PLXNA1,upstream_gene_variant,,ENST00000503363,; C ENSG00000114554 ENST00000393409 Transcript missense_variant 4660/9066 4660/5691 1554/1896 M/L Atg/Ctg COSM246673 1 1 PLXNA1 HGNC HGNC:9099 protein_coding YES CCDS33847.2 ENSP00000377061 Q9UIW2 UPI00001A7983 NM_032242.3 tolerated(0.55) probably_damaging(0.982) 24/31 cd12790,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF08337,Gene3D:1.10.506.10 1 MODERATE 1 SNV 1 1 PASS CAT . . 127028331 SIAH2 . GRCh38 chr3 150762737 150762737 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.113T>G p.Ile38Ser p.I38S ENST00000312960 1/2 50 42 7 29 29 0 SIAH2,missense_variant,p.Ile38Ser,ENST00000312960,NM_005067.5;SIAH2,intron_variant,,ENST00000482706,;SIAH2-AS1,downstream_gene_variant,,ENST00000461943,;SIAH2,intron_variant,,ENST00000472885,;,regulatory_region_variant,,ENSR00000306890,; C ENSG00000181788 ENST00000312960 Transcript missense_variant 641/2517 113/975 38/324 I/S aTc/aGc 1 -1 SIAH2 HGNC HGNC:10858 protein_coding YES CCDS3152.1 ENSP00000322457 O43255 UPI0000071280 NM_005067.5 tolerated(0.86) benign(0) 1/2 hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF11,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GAT . . 150762737 MUC4 . GRCh38 chr3 195784222 195784222 + Missense_Mutation SNP C C T rs778868605 7316-946 BS_95W988HQ C C c.7358G>A p.Ser2453Asn p.S2453N ENST00000463781 2/25 40 31 5 36 34 0 MUC4,missense_variant,p.Ser2453Asn,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser2453Asn,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser2453Asn,ENST00000478156,;MUC4,missense_variant,p.Ser2453Asn,ENST00000466475,;MUC4,missense_variant,p.Ser2453Asn,ENST00000477756,;MUC4,missense_variant,p.Ser2453Asn,ENST00000477086,;MUC4,missense_variant,p.Ser2453Asn,ENST00000480843,;MUC4,missense_variant,p.Ser2453Asn,ENST00000462323,;MUC4,missense_variant,p.Ser2453Asn,ENST00000470451,;MUC4,missense_variant,p.Ser2453Asn,ENST00000479406,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 7818/17110 7358/16239 2453/5412 S/N aGc/aAc rs778868605,COSM4157754 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.15) benign(0.22) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GCT . . 0.0002472 0.000291 4.428e-05 9.52e-05 0.001459 195784222 IRX2 . GRCh38 chr5 2748347 2748347 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.1361A>C p.Lys454Thr p.K454T ENST00000382611 3/5 65 51 12 28 28 0 IRX2,missense_variant,p.Lys454Thr,ENST00000382611,NM_001134222.1;IRX2,missense_variant,p.Lys454Thr,ENST00000302057,NM_033267.4;C5orf38,upstream_gene_variant,,ENST00000334000,NM_178569.3;C5orf38,upstream_gene_variant,,ENST00000397835,;C5orf38,upstream_gene_variant,,ENST00000457752,NM_001294337.1;C5orf38,upstream_gene_variant,,ENST00000505778,NM_001306149.1;C5orf38,upstream_gene_variant,,ENST00000515640,NM_001306150.1;C5orf38,upstream_gene_variant,,ENST00000503940,;C5orf38,upstream_gene_variant,,ENST00000505106,;,regulatory_region_variant,,ENSR00000177640,; G ENSG00000170561 ENST00000382611 Transcript missense_variant,splice_region_variant 1610/2630 1361/1416 454/471 K/T aAa/aCa 1 -1 IRX2 HGNC HGNC:14359 protein_coding YES CCDS3868.1 ENSP00000372056 Q9BZI1 UPI00001B6456 NM_001134222.1 deleterious_low_confidence(0) benign(0.307) 3/5 hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF15,mobidb-lite MODERATE 1 SNV 1 1 PASS TTT . . 2748347 CAST . GRCh38 chr5 96662493 96662493 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.71A>C p.His24Pro p.H24P ENST00000395812 1/30 94 81 9 31 29 0 CAST,missense_variant,p.His24Pro,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Pro,ENST00000508830,;CAST,missense_variant,p.His24Pro,ENST00000510756,;CAST,missense_variant,p.His24Pro,ENST00000511097,;CAST,missense_variant,p.His24Pro,ENST00000421689,;CAST,missense_variant,p.His7Pro,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; C ENSG00000153113 ENST00000395812 Transcript missense_variant 257/4506 71/2253 24/750 H/P cAt/cCt 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 deleterious_low_confidence(0.02) benign(0.003) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS CAT . . 96662493 CAST . GRCh38 chr5 96662494 96662494 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.72T>G p.His24Gln p.H24Q ENST00000395812 1/30 95 79 13 31 29 0 CAST,missense_variant,p.His24Gln,ENST00000395812,NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1;CAST,missense_variant,p.His24Gln,ENST00000508830,;CAST,missense_variant,p.His24Gln,ENST00000510756,;CAST,missense_variant,p.His24Gln,ENST00000511097,;CAST,missense_variant,p.His24Gln,ENST00000421689,;CAST,missense_variant,p.His7Gln,ENST00000512620,;CAST,intron_variant,,ENST00000338252,NM_001190442.1;CAST,intron_variant,,ENST00000505143,;CAST,upstream_gene_variant,,ENST00000506811,;CAST,upstream_gene_variant,,ENST00000508608,;CAST,upstream_gene_variant,,ENST00000514055,;CAST,upstream_gene_variant,,ENST00000514845,;CAST,non_coding_transcript_exon_variant,,ENST00000507836,;CAST,non_coding_transcript_exon_variant,,ENST00000507487,;CAST,non_coding_transcript_exon_variant,,ENST00000515160,;CAST,upstream_gene_variant,,ENST00000510245,;,regulatory_region_variant,,ENSR00000184351,; G ENSG00000153113 ENST00000395812 Transcript missense_variant 258/4506 72/2253 24/750 H/Q caT/caG 1 1 CAST HGNC HGNC:1515 protein_coding YES CCDS54882.1 ENSP00000379157 P20810 UPI0000DA4C59 NM_001042440.3,NM_001330627.1,NM_001042444.2,NM_001330628.1,NM_001330633.1 tolerated_low_confidence(1) benign(0) 1/30 hmmpanther:PTHR10077,mobidb-lite MODERATE 1 SNV 5 1 PASS ATG . . 96662494 MDC1 . GRCh38 chr6 30705336 30705336 + Missense_Mutation SNP G G T rs79216909 7316-946 BS_95W988HQ G G c.3847C>A p.Pro1283Thr p.P1283T ENST00000376406 10/15 53 39 9 31 30 0 MDC1,missense_variant,p.Pro1283Thr,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; T ENSG00000137337 ENST00000376406 Transcript missense_variant 4495/7576 3847/6270 1283/2089 P/T Cca/Aca rs79216909,COSM1235523,COSM1235522 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 tolerated(0.06) benign(0) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16 0.0457 0.0295 0.0231 0.0635 0.0239 0.0879 0.02678 0.02047 0,1,1 MODERATE SNV 5 0,1,1 PASS GGT . . 0.01363 0.004301 0.007925 0.02249 0.04023 0.005426 0.007551 0.01843 0.03559 30705336 MUCL3 . GRCh38 chr6 30949797 30949797 + Missense_Mutation SNP A A G rs1383829248 7316-946 BS_95W988HQ A A c.1333A>G p.Arg445Gly p.R445G ENST00000462446 2/3 62 43 9 37 36 0 MUCL3,missense_variant,p.Arg512Gly,ENST00000636043,;MUCL3,missense_variant,p.Arg445Gly,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; G ENSG00000168631 ENST00000462446 Transcript missense_variant 1361/5314 1333/4182 445/1393 R/G Aga/Gga rs1383829248,COSM3774208 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.74) benign(0) 2/3 mobidb-lite,hmmpanther:PTHR22094 0,1 MODERATE SNV 5 0,1 1 PASS TAG . . 30949797 MUCL3 . GRCh38 chr6 30950383 30950383 + Missense_Mutation SNP G G A rs1201526684 7316-946 BS_95W988HQ G G c.1919G>A p.Gly640Glu p.G640E ENST00000462446 2/3 50 36 7 43 38 1 MUCL3,missense_variant,p.Gly707Glu,ENST00000636043,;MUCL3,missense_variant,p.Gly640Glu,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 1947/5314 1919/4182 640/1393 G/E gGg/gAg rs1201526684 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.57) benign(0.32) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS GGG . . 0.0002845 0.0003342 0.00074 0.0009711 6.059e-05 0.0001339 0.0002983 30950383 EPM2A . GRCh38 chr6 145735386 145735386 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.113T>G p.Val38Gly p.V38G ENST00000367519 1/4 72 52 7 38 34 0 EPM2A,missense_variant,p.Val38Gly,ENST00000367519,NM_005670.3;EPM2A,missense_variant,p.Val38Gly,ENST00000638262,NM_001360057.1;EPM2A,missense_variant,p.Val38Gly,ENST00000618445,;EPM2A,missense_variant,p.Val38Gly,ENST00000435470,NM_001018041.1;EPM2A,intron_variant,,ENST00000611340,;EPM2A,intron_variant,,ENST00000639423,NM_001360064.1;EPM2A,intron_variant,,ENST00000640980,;EPM2A,upstream_gene_variant,,ENST00000638717,;AL023806.2,downstream_gene_variant,,ENST00000603042,;AL023806.1,upstream_gene_variant,,ENST00000603994,;EPM2A,non_coding_transcript_exon_variant,,ENST00000640297,;EPM2A,intron_variant,,ENST00000640898,;EPM2A,missense_variant,p.Val29Gly,ENST00000639049,NM_001360071.1;EPM2A,non_coding_transcript_exon_variant,,ENST00000639649,;EPM2A,upstream_gene_variant,,ENST00000638554,;EPM2A,upstream_gene_variant,,ENST00000640351,;,regulatory_region_variant,,ENSR00000204584,; C ENSG00000112425 ENST00000367519 Transcript missense_variant 470/3465 113/996 38/331 V/G gTc/gGc 1 -1 EPM2A HGNC HGNC:3413 protein_coding YES CCDS5206.1 ENSP00000356489 O95278 UPI000006E60E NM_005670.3 deleterious(0) possibly_damaging(0.598) 1/4 Gene3D:2.60.40.10,Pfam_domain:PF00686,PROSITE_profiles:PS51166,SMART_domains:SM01065,Superfamily_domains:SSF49452,cd05806 MODERATE 1 SNV 1 1 PASS GAC . . 145735386 MTHFD1L . GRCh38 chr6 150865824 150865824 + Translation_Start_Site SNP T T G novel 7316-946 BS_95W988HQ T T c.2T>G p.Met1? p.M1? ENST00000611279 1/28 75 58 11 37 36 0 MTHFD1L,start_lost,p.Met1?,ENST00000367321,NM_015440.4;MTHFD1L,start_lost,p.Met1?,ENST00000611279,NM_001242767.1;MTHFD1L,start_lost,p.Met1?,ENST00000367307,NM_001242769.1,NM_001350488.1;MTHFD1L,upstream_gene_variant,,ENST00000367308,;MTHFD1L,upstream_gene_variant,,ENST00000423867,;MTHFD1L,upstream_gene_variant,,ENST00000618312,NM_001242768.1,NM_001350493.1,NM_001350486.1;MTHFD1L,upstream_gene_variant,,ENST00000441122,;,regulatory_region_variant,,ENSR00000205219,; G ENSG00000120254 ENST00000611279 Transcript start_lost 146/3475 2/2940 1/979 M/R aTg/aGg 1 1 MTHFD1L HGNC HGNC:21055 protein_coding YES CCDS75535.1 ENSP00000478253 B7ZM99 UPI000166C73D NM_001242767.1 deleterious_low_confidence(0) benign(0.227) 1/28 mobidb-lite HIGH 1 SNV 5 PASS ATG . . 150865824 AKAP12 . GRCh38 chr6 151240727 151240727 + Splice_Region SNP A A C novel 7316-946 BS_95W988HQ A A c.162+3A>C ENST00000402676 75 44 9 30 20 0 AKAP12,splice_region_variant,,ENST00000253332,;AKAP12,splice_region_variant,,ENST00000402676,NM_005100.3;,regulatory_region_variant,,ENSR00000205285,; C ENSG00000131016 ENST00000402676 Transcript splice_region_variant,intron_variant 1 1 AKAP12 HGNC HGNC:370 protein_coding YES CCDS5229.1 ENSP00000384537 Q02952 UPI000013CDC7 NM_005100.3 2/4 LOW 1 SNV 5 PASS TAC . . 151240727 INTS1 . GRCh38 chr7 1493879 1493879 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.1943T>G p.Ile648Ser p.I648S ENST00000404767 15/48 90 79 10 31 29 0 INTS1,missense_variant,p.Ile648Ser,ENST00000404767,NM_001080453.2;INTS1,downstream_gene_variant,,ENST00000496988,;INTS1,upstream_gene_variant,,ENST00000468115,;,regulatory_region_variant,,ENSR00000207613,; C ENSG00000164880 ENST00000404767 Transcript missense_variant 2029/6959 1943/6573 648/2190 I/S aTt/aGt 1 -1 INTS1 HGNC HGNC:24555 protein_coding YES CCDS47526.1 ENSP00000385722 Q8N201 UPI0000D7211C NM_001080453.2 deleterious(0) possibly_damaging(0.451) 15/48 hmmpanther:PTHR21224 MODERATE 1 SNV 5 PASS AAT . . 1493879 ZNF107 . GRCh38 chr7 64708126 64708126 + Missense_Mutation SNP C C T 7316-946 BS_95W988HQ C C c.2029C>T p.His677Tyr p.H677Y ENST00000620827 4/4 80 69 6 50 49 0 ZNF107,missense_variant,p.His608Tyr,ENST00000395391,;ZNF107,missense_variant,p.His608Tyr,ENST00000423627,NM_016220.4;ZNF107,missense_variant,p.His677Tyr,ENST00000620827,NM_001282359.1;ZNF107,missense_variant,p.His645Tyr,ENST00000613690,NM_001282360.1;ZNF107,missense_variant,p.His608Tyr,ENST00000344930,NM_001013746.2;ZNF107,downstream_gene_variant,,ENST00000360117,; T ENSG00000196247 ENST00000620827 Transcript missense_variant 2229/5685 2029/2559 677/852 H/Y Cac/Tac COSM1673196 1 1 ZNF107 HGNC HGNC:12887 protein_coding YES CCDS75605.1 ENSP00000483720 A0A0B4J2G0 UPI0000049C52 NM_001282359.1 tolerated(1) probably_damaging(0.922) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS CCA . . 64708126 SRRM3 . GRCh38 chr7 76282798 76282798 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.1521A>C p.Lys507Asn p.K507N ENST00000611745 13/15 74 62 7 25 25 0 SRRM3,missense_variant,p.Lys507Asn,ENST00000611745,NM_001291831.1,NM_001110199.2;SRRM3,downstream_gene_variant,,ENST00000479284,;SRRM3,non_coding_transcript_exon_variant,,ENST00000612155,;,regulatory_region_variant,,ENSR00000213892,; C ENSG00000177679 ENST00000611745 Transcript missense_variant 1728/3612 1521/1962 507/653 K/N aaA/aaC 1 1 SRRM3 HGNC HGNC:26729 protein_coding YES ENSP00000480851 A0A087WXA3 UPI00015E1C06 NM_001291831.1,NM_001110199.2 tolerated(0.19) possibly_damaging(0.767) 13/15 hmmpanther:PTHR45041,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS AAT . . 76282798 MUC17 . GRCh38 chr7 101038659 101038659 + Missense_Mutation SNP A A G rs775681988 7316-946 BS_95W988HQ A A c.7243A>G p.Ser2415Gly p.S2415G ENST00000306151 3/13 72 57 7 42 39 0 MUC17,missense_variant,p.Ser2415Gly,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser2415Gly,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 7307/14247 7243/13482 2415/4493 S/G Agc/Ggc rs775681988,COSM5774377 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.04) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS TAG . . 4.064e-06 8.962e-06 101038659 MUC17 . GRCh38 chr7 101038666 101038666 + Missense_Mutation SNP A A T rs139220229 7316-946 BS_95W988HQ A A c.7250A>T p.His2417Leu p.H2417L ENST00000306151 3/13 68 54 11 46 42 0 MUC17,missense_variant,p.His2417Leu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.His2417Leu,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 7314/14247 7250/13482 2417/4493 H/L cAt/cTt rs139220229,COSM4161663 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS CAT . . 1.736e-05 0.0001985 9.3e-06 101038666 MUC17 . GRCh38 chr7 101041333 101041333 + Missense_Mutation SNP C C T rs778418183 7316-946 BS_95W988HQ C C c.9917C>T p.Ala3306Val p.A3306V ENST00000306151 3/13 71 54 10 44 43 1 MUC17,missense_variant,p.Ala3306Val,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala3306Val,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 9981/14247 9917/13482 3306/4493 A/V gCt/gTt rs778418183 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.046) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GCT . . 4.133e-06 9.029e-06 101041333 VGF . GRCh38 chr7 101163117 101163117 + Missense_Mutation SNP T T G rs1272061532 7316-946 BS_95W988HQ T T c.1727A>C p.Tyr576Ser p.Y576S ENST00000249330 2/2 76 66 9 30 28 0 VGF,missense_variant,p.Tyr576Ser,ENST00000249330,NM_003378.3;VGF,missense_variant,p.Tyr576Ser,ENST00000445482,;VGF,intron_variant,,ENST00000611537,;AP1S1,downstream_gene_variant,,ENST00000337619,NM_001283.3;AP1S1,downstream_gene_variant,,ENST00000429457,;AP1S1,downstream_gene_variant,,ENST00000646560,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000643104,;AP1S1,downstream_gene_variant,,ENST00000443943,;AP1S1,downstream_gene_variant,,ENST00000646950,;,regulatory_region_variant,,ENSR00000215902,; G ENSG00000128564 ENST00000249330 Transcript missense_variant 1967/2575 1727/1848 576/615 Y/S tAt/tCt rs1272061532 1 -1 VGF HGNC HGNC:12684 protein_coding YES CCDS5712.1 ENSP00000249330 O15240 UPI000006FC7B NM_003378.3 tolerated_low_confidence(0.19) benign(0.052) 2/2 Gene3D:1.10.601.10,hmmpanther:PTHR15159,mobidb-lite MODERATE 1 SNV 1 PASS ATA . . 4.745e-06 3.582e-05 101163117 SRPK2 . GRCh38 chr7 105388806 105388806 + Translation_Start_Site SNP T T G novel 7316-946 BS_95W988HQ T T c.1A>C p.Met1? p.M1? ENST00000393651 1/16 57 47 8 18 18 0 SRPK2,start_lost,p.Met1?,ENST00000393651,NM_182692.2,NM_001350740.1;SRPK2,5_prime_UTR_variant,,ENST00000460391,;SRPK2,intron_variant,,ENST00000482897,;SRPK2,intron_variant,,ENST00000462282,;SRPK2,intron_variant,,ENST00000482862,;SRPK2,start_lost,p.Met1?,ENST00000465112,;,regulatory_region_variant,,ENSR00000216319,; G ENSG00000135250 ENST00000393651 Transcript start_lost 89/3650 1/2100 1/699 M/L Atg/Ctg 1 -1 SRPK2 HGNC HGNC:11306 protein_coding YES CCDS34724.1 ENSP00000377262 P78362 UPI00001A4785 NM_182692.2,NM_001350740.1 deleterious_low_confidence(0) benign(0) 1/16 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 105388806 SND1 . GRCh38 chr7 128081373 128081373 + Missense_Mutation SNP A A C 7316-946 BS_95W988HQ A A c.1982A>C p.Tyr661Ser p.Y661S ENST00000354725 18/24 78 71 7 29 28 0 SND1,missense_variant,p.Tyr661Ser,ENST00000354725,NM_014390.2;SND1,missense_variant,p.Tyr147Ser,ENST00000486037,;MIR593,upstream_gene_variant,,ENST00000384856,;SND1,non_coding_transcript_exon_variant,,ENST00000470723,;SND1,non_coding_transcript_exon_variant,,ENST00000470463,; C ENSG00000197157 ENST00000354725 Transcript missense_variant 2176/3476 1982/2733 661/910 Y/S tAt/tCt COSM1085203 1 1 SND1 HGNC HGNC:30646 protein_coding YES CCDS34747.1 ENSP00000346762 Q7KZF4 A0A140VK49 UPI00000727E5 NM_014390.2 deleterious(0.02) possibly_damaging(0.655) 18/24 PDB-ENSP_mappings:3bdl.A,PDB-ENSP_mappings:3omc.A,PDB-ENSP_mappings:3omc.B,PDB-ENSP_mappings:3omg.A,PDB-ENSP_mappings:3omg.B,PIRSF_domain:PIRSF017179,hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF2,Superfamily_domains:SSF50199 1 MODERATE 1 SNV 1 1 1 PASS TAT . . 128081373 RP1L1 . GRCh38 chr8 10607608 10607608 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.6490A>C p.Ile2164Leu p.I2164L ENST00000382483 4/4 57 40 6 36 33 0 RP1L1,missense_variant,p.Ile2164Leu,ENST00000382483,NM_178857.5; G ENSG00000183638 ENST00000382483 Transcript missense_variant 6714/7973 6490/7203 2164/2400 I/L Ata/Cta 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated(0.28) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 MODERATE 1 SNV 1 1 PASS ATA . . 10607608 RP1L1 . GRCh38 chr8 10607704 10607704 + Missense_Mutation SNP T T G 7316-946 BS_95W988HQ T T c.6394A>C p.Ile2132Leu p.I2132L ENST00000382483 4/4 59 40 10 45 39 0 RP1L1,missense_variant,p.Ile2132Leu,ENST00000382483,NM_178857.5; G ENSG00000183638 ENST00000382483 Transcript missense_variant 6618/7973 6394/7203 2132/2400 I/L Ata/Cta COSM5885629 1 -1 RP1L1 HGNC HGNC:15946 protein_coding YES CCDS43708.1 ENSP00000371923 Q8IWN7 UPI00001AF9CC NM_178857.5 tolerated_low_confidence(0.4) benign(0) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005 1 MODERATE 1 SNV 1 1 1 PASS ATA . . 10607704 ADGRA2 . GRCh38 chr8 37833971 37833971 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.1451T>G p.Val484Gly p.V484G ENST00000412232 11/19 83 73 9 42 41 0 ADGRA2,missense_variant,p.Val484Gly,ENST00000315215,;ADGRA2,missense_variant,p.Val484Gly,ENST00000412232,NM_032777.9;ADGRA2,downstream_gene_variant,,ENST00000428068,; G ENSG00000020181 ENST00000412232 Transcript missense_variant 1464/5651 1451/4017 484/1338 V/G gTa/gGa 1 1 ADGRA2 HGNC HGNC:17849 protein_coding YES CCDS6097.2 ENSP00000406367 Q96PE1 UPI00004AE50D NM_032777.9 tolerated(0.54) benign(0.033) 11/19 hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF33 MODERATE 1 SNV 1 PASS GTA . . 37833971 ZBTB10 . GRCh38 chr8 80486986 80486986 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.176A>C p.Asn59Thr p.N59T ENST00000430430 2/7 81 62 10 48 48 0 ZBTB10,missense_variant,p.Asn59Thr,ENST00000430430,;ZBTB10,missense_variant,p.Asn59Thr,ENST00000426744,NM_023929.4;ZBTB10,missense_variant,p.Asn59Thr,ENST00000455036,NM_001105539.2;ZBTB10,intron_variant,,ENST00000379091,NM_001277145.1;ZBTB10,intron_variant,,ENST00000610895,;AC034114.2,downstream_gene_variant,,ENST00000644465,;RF00019,upstream_gene_variant,,ENST00000516058,;AC009812.1,upstream_gene_variant,,ENST00000605948,;,regulatory_region_variant,,ENSR00000226302,; C ENSG00000205189 ENST00000430430 Transcript missense_variant 955/10132 176/2616 59/871 N/T aAt/aCt 1 1 ZBTB10 HGNC HGNC:30953 protein_coding YES CCDS47880.1 ENSP00000387462 Q96DT7 UPI0000E5AEF3 deleterious_low_confidence(0) benign(0.094) 2/7 mobidb-lite MODERATE 1 SNV 5 PASS AAT . . 80486986 COL22A1 . GRCh38 chr8 138594082 138594082 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.4550T>G p.Met1517Arg p.M1517R ENST00000303045 63/65 79 65 12 37 36 0 COL22A1,missense_variant,p.Met1517Arg,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Met1210Arg,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,; C ENSG00000169436 ENST00000303045 Transcript missense_variant 4997/6346 4550/4881 1517/1626 M/R aTg/aGg 1 -1 COL22A1 HGNC HGNC:22989 protein_coding YES CCDS6376.1 ENSP00000303153 Q8NFW1 UPI00001C1EA1 NM_152888.2 tolerated(0.24) benign(0.14) 63/65 mobidb-lite,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF845,Pfam_domain:PF01391,Gene3D:2.160.20.50 MODERATE 1 SNV 1 PASS CAT . . 138594082 IGFBPL1 . GRCh38 chr9 38423991 38423991 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.434A>C p.Lys145Thr p.K145T ENST00000377694 1/5 88 76 7 33 32 0 IGFBPL1,missense_variant,p.Lys145Thr,ENST00000377694,NM_001007563.2; G ENSG00000137142 ENST00000377694 Transcript missense_variant 457/1093 434/837 145/278 K/T aAg/aCg 1 -1 IGFBPL1 HGNC HGNC:20081 protein_coding YES CCDS35017.1 ENSP00000366923 Q8WX77 UPI000006F856 NM_001007563.2 tolerated(0.05) probably_damaging(0.986) 1/5 PROSITE_profiles:PS51465,cd00104,hmmpanther:PTHR14186,hmmpanther:PTHR14186:SF16,Gene3D:3.30.60.30,Pfam_domain:PF07648,PIRSF_domain:PIRSF018239,SMART_domains:SM00280,Superfamily_domains:SSF100895 MODERATE 1 SNV 2 PASS CTT . . 38423991 GAS1 . GRCh38 chr9 86946778 86946778 + Translation_Start_Site SNP A A C novel 7316-946 BS_95W988HQ A A c.2T>G p.Met1? p.M1? ENST00000298743 1/1 75 56 14 44 41 0 GAS1,start_lost,p.Met1?,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;,regulatory_region_variant,,ENSR00000237164,; C ENSG00000180447 ENST00000298743 Transcript start_lost 412/2827 2/1038 1/345 M/R aTg/aGg 1 -1 GAS1 HGNC HGNC:4165 protein_coding YES CCDS6674.1 ENSP00000298743 P54826 UPI0000140B67 NM_002048.2 tolerated_low_confidence(0.07) benign(0.127) 1/1 Cleavage_site_(Signalp):SignalP-noTM HIGH SNV 1 PASS CAT . . 86946778 ZNF367 . GRCh38 chr9 96417614 96417614 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.419A>C p.Lys140Thr p.K140T ENST00000375256 1/5 71 51 13 26 25 0 ZNF367,missense_variant,p.Lys140Thr,ENST00000375256,NM_153695.3;,regulatory_region_variant,,ENSR00000238407,; G ENSG00000165244 ENST00000375256 Transcript missense_variant,splice_region_variant 716/3646 419/1053 140/350 K/T aAg/aCg 1 -1 ZNF367 HGNC HGNC:18320 protein_coding YES CCDS6718.1 ENSP00000364405 Q7RTV3 UPI000013E47A NM_153695.3 tolerated(0.16) benign(0.051) 1/5 Gene3D:3.30.160.60,hmmpanther:PTHR44530,mobidb-lite MODERATE 1 SNV 1 PASS CTT . . 96417614 UCK1 . GRCh38 chr9 131531098 131531098 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.77T>G p.Ile26Arg p.I26R ENST00000372211 1/7 89 78 7 34 33 0 UCK1,missense_variant,p.Ile26Arg,ENST00000372215,NM_001318519.1,NM_031432.3;UCK1,missense_variant,p.Ile26Arg,ENST00000372211,NM_001261451.2;UCK1,missense_variant,p.Ile26Arg,ENST00000372208,NM_001135954.2;UCK1,missense_variant,p.Ile26Arg,ENST00000372210,NM_001261450.2;UCK1,non_coding_transcript_exon_variant,,ENST00000459858,;UCK1,non_coding_transcript_exon_variant,,ENST00000494584,;UCK1,upstream_gene_variant,,ENST00000482398,;UCK1,upstream_gene_variant,,ENST00000484876,;UCK1,missense_variant,p.Ile26Arg,ENST00000491309,;,regulatory_region_variant,,ENSR00000242350,; C ENSG00000130717 ENST00000372211 Transcript missense_variant 103/2114 77/849 26/282 I/R aTa/aGa 1 -1 UCK1 HGNC HGNC:14859 protein_coding YES CCDS59152.1 ENSP00000361285 Q9HA47 UPI00004A2DB7 NM_001261451.2 deleterious(0) benign(0.33) 1/7 hmmpanther:PTHR10285:SF66,hmmpanther:PTHR10285 MODERATE 1 SNV 3 PASS TAT . . 131531098 MKI67 . GRCh38 chr10 128104812 128104812 + Missense_Mutation SNP T T A rs757834010 7316-946 BS_95W988HQ T T c.7028A>T p.Lys2343Ile p.K2343I ENST00000368654 13/15 76 61 8 26 24 0 MKI67,missense_variant,p.Lys2343Ile,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Lys1983Ile,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,; A ENSG00000148773 ENST00000368654 Transcript missense_variant 7404/12678 7028/9771 2343/3256 K/I aAa/aTa rs757834010,COSM4702266 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 tolerated(0.19) possibly_damaging(0.828) 13/15 Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295,mobidb-lite 0,1 MODERATE 1 SNV 2 0,1 PASS TTT . . 4.063e-06 8.963e-06 128104812 RPLP2 . GRCh38 chr11 810041 810041 + Splice_Site SNP T T G novel 7316-946 BS_95W988HQ T T c.-2+2T>G ENST00000321153 77 69 7 41 39 0 RPLP2,splice_donor_variant,,ENST00000321153,NM_001004.3;RPLP2,5_prime_UTR_variant,,ENST00000530797,;PIDD1,upstream_gene_variant,,ENST00000347755,NM_145886.3;RPLP2,upstream_gene_variant,,ENST00000530398,;SNORA52,upstream_gene_variant,,ENST00000362915,;RPLP2,non_coding_transcript_exon_variant,,ENST00000532004,;RPLP2,upstream_gene_variant,,ENST00000526222,;PIDD1,upstream_gene_variant,,ENST00000530911,;PIDD1,upstream_gene_variant,,ENST00000534649,;RPLP2,non_coding_transcript_exon_variant,,ENST00000524867,;PIDD1,upstream_gene_variant,,ENST00000524486,;RPLP2,upstream_gene_variant,,ENST00000525722,;PIDD1,upstream_gene_variant,,ENST00000527357,;RPLP2,upstream_gene_variant,,ENST00000527517,;PIDD1,upstream_gene_variant,,ENST00000534525,;,regulatory_region_variant,,ENSR00000035694,; G ENSG00000177600 ENST00000321153 Transcript splice_donor_variant 1 1 RPLP2 HGNC HGNC:10377 protein_coding YES CCDS7717.1 ENSP00000322419 P05387 A0A024RCA7 UPI0000134258 NM_001004.3 1/4 HIGH 1 SNV 1 PASS GTG . . 810041 MUC5AC . GRCh38 chr11 1186069 1186069 + Missense_Mutation SNP G G T novel 7316-946 BS_95W988HQ G G c.7924G>T p.Ala2642Ser p.A2642S ENST00000621226 31/49 68 55 5 45 42 0 MUC5AC,missense_variant,p.Ala2642Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; T ENSG00000215182 ENST00000621226 Transcript missense_variant 7971/17448 7924/16965 2642/5654 A/S Gcc/Tcc 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.18) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CGC . . 1186069 AHNAK . GRCh38 chr11 62528077 62528077 + Missense_Mutation SNP C C A 7316-946 BS_95W988HQ C C c.6340G>T p.Ala2114Ser p.A2114S ENST00000378024 5/5 51 42 5 25 25 0 AHNAK,missense_variant,p.Ala2114Ser,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 6615/18787 6340/17673 2114/5890 A/S Gcc/Tcc COSM5018040,COSM1721142 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.11) benign(0.346) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 1,1 MODERATE 1 SNV 2 1,1 PASS GCC . . 62528077 MAML2 . GRCh38 chr11 96092542 96092542 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.1489A>C p.Met497Leu p.M497L ENST00000524717 2/5 65 57 6 28 27 0 MAML2,missense_variant,p.Met497Leu,ENST00000524717,NM_032427.3;MAML2,missense_variant,p.Met327Leu,ENST00000618849,; G ENSG00000184384 ENST00000524717 Transcript missense_variant 2774/7106 1489/3471 497/1156 M/L Atg/Ctg 1 -1 MAML2 HGNC HGNC:16259 protein_coding YES CCDS44714.1 ENSP00000434552 Q8IZL2 UPI00001B4EFC NM_032427.3 tolerated(1) benign(0) 2/5 Gene3D:1.10.30.10,hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF9,mobidb-lite MODERATE 1 SNV 1 1 PASS ATG . . 96092542 PRB4 . GRCh38 chr12 11308844 11308844 + Missense_Mutation SNP G G T novel 7316-946 BS_95W988HQ G G c.139C>A p.Pro47Thr p.P47T ENST00000279575 3/4 86 59 6 28 27 0 PRB4,missense_variant,p.Pro47Thr,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Pro47Thr,ENST00000535904,;PRB4,missense_variant,p.Pro47Thr,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Pro47Thr,ENST00000445719,; T ENSG00000230657 ENST00000279575 Transcript missense_variant 176/916 139/744 47/247 P/T Ccc/Acc 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.38) benign(0.007) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GGC . . 11308844 KMT2D . GRCh38 chr12 49041174 49041174 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.6596A>C p.Tyr2199Ser p.Y2199S ENST00000301067 31/54 76 64 7 30 30 0 KMT2D,missense_variant,p.Tyr2199Ser,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,; G ENSG00000167548 ENST00000301067 Transcript missense_variant 6596/19419 6596/16614 2199/5537 Y/S tAt/tCt 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 tolerated_low_confidence(0.16) benign(0.122) 31/54 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 1 PASS ATA . . 49041174 SELPLG . GRCh38 chr12 108623678 108623678 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.678A>C p.Glu226Asp p.E226D ENST00000228463 2/2 70 49 6 38 35 0 SELPLG,missense_variant,p.Glu210Asp,ENST00000550948,NM_003006.4;SELPLG,missense_variant,p.Glu226Asp,ENST00000228463,NM_001206609.1;SELPLG,missense_variant,p.Glu200Asp,ENST00000388962,; G ENSG00000110876 ENST00000228463 Transcript missense_variant 855/1704 678/1287 226/428 E/D gaA/gaC 1 -1 SELPLG HGNC HGNC:10722 protein_coding YES CCDS55881.1 ENSP00000228463 Q14242 UPI0002065776 NM_001206609.1 tolerated(0.11) possibly_damaging(0.794) 2/2 hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CTT . . 108623678 MRPL57 . GRCh38 chr13 21176951 21176951 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.35T>G p.Ile12Ser p.I12S ENST00000309594 2/2 89 75 13 27 26 1 MRPL57,missense_variant,p.Ile12Ser,ENST00000309594,NM_024026.4;SKA3,upstream_gene_variant,,ENST00000314759,NM_145061.5;SKA3,upstream_gene_variant,,ENST00000400018,NM_001166017.1;SKA3,upstream_gene_variant,,ENST00000298260,;SKA3,upstream_gene_variant,,ENST00000462482,;SKA3,upstream_gene_variant,,ENST00000465471,;SKA3,upstream_gene_variant,,ENST00000475251,;SKA3,upstream_gene_variant,,ENST00000536239,;,regulatory_region_variant,,ENSR00000059761,; G ENSG00000173141 ENST00000309594 Transcript missense_variant 113/2246 35/309 12/102 I/S aTt/aGt 1 1 MRPL57 HGNC HGNC:14514 protein_coding YES CCDS9296.1 ENSP00000310726 Q9BQC6 A0A024RDM4 UPI000004C5AC NM_024026.4 deleterious(0) probably_damaging(0.938) 2/2 PDB-ENSP_mappings:3j7y.o,PDB-ENSP_mappings:3j9m.o,PDB-ENSP_mappings:5ool.o,PDB-ENSP_mappings:5oom.o,PIRSF_domain:PIRSF011124,hmmpanther:PTHR14520 MODERATE 1 SNV 1 PASS ATT . . 21176951 ZIC5 . GRCh38 chr13 99970738 99970738 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.938A>C p.Tyr313Ser p.Y313S ENST00000267294 1/2 41 33 7 29 28 0 ZIC5,missense_variant,p.Tyr313Ser,ENST00000267294,NM_033132.3;,regulatory_region_variant,,ENSR00000065144,; G ENSG00000139800 ENST00000267294 Transcript missense_variant 1172/4639 938/1992 313/663 Y/S tAc/tCc 1 -1 ZIC5 HGNC HGNC:20322 protein_coding YES CCDS9494.2 ENSP00000267294 Q96T25 UPI0000458928 NM_033132.3 deleterious(0.02) possibly_damaging(0.86) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF69,hmmpanther:PTHR19818 MODERATE 1 SNV 1 PASS GTA . . 99970738 POTEG . GRCh38 chr14 19434005 19434005 + Missense_Mutation SNP C C G novel 7316-946 BS_95W988HQ C C c.285G>C p.Arg95Ser p.R95S ENST00000547848 1/11 163 125 14 66 63 0 POTEG,missense_variant,p.Arg95Ser,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Arg95Ser,ENST00000547722,;POTEG,missense_variant,p.Arg95Ser,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; G ENSG00000187537 ENST00000547848 Transcript missense_variant 337/2204 285/1527 95/508 R/S agG/agC 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 tolerated_low_confidence(0.14) possibly_damaging(0.724) 1/11 Gene3D:1.25.40.20,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 MODERATE 1 SNV 1 PASS TCC . . 19434005 TMEM63C . GRCh38 chr14 77181893 77181893 + Splice_Region SNP A A C novel 7316-946 BS_95W988HQ A A c.-78A>C ENST00000298351 1/24 92 76 9 32 32 0 TMEM63C,splice_region_variant,,ENST00000298351,NM_020431.3;TMEM63C,5_prime_UTR_variant,,ENST00000554766,;TMEM63C,5_prime_UTR_variant,,ENST00000554346,;TMEM63C,intron_variant,,ENST00000555338,;TMEM63C,intron_variant,,ENST00000556514,;TMEM63C,intron_variant,,ENST00000557408,;TMEM63C,intron_variant,,ENST00000555588,;AC007375.2,intron_variant,,ENST00000557752,;,regulatory_region_variant,,ENSR00000071127,; C ENSG00000165548 ENST00000298351 Transcript splice_region_variant,5_prime_UTR_variant 67/5334 1 1 TMEM63C HGNC HGNC:23787 protein_coding YES CCDS45141.1 ENSP00000298351 Q9P1W3 A0A024R6B3 UPI0000049C5C NM_020431.3 1/24 LOW 1 SNV 1 PASS AAT . . 77181893 ISM2 . GRCh38 chr14 77484327 77484327 + Missense_Mutation SNP T T G rs1010830412 7316-946 BS_95W988HQ T T c.623A>C p.Asn208Thr p.N208T ENST00000342219 3/7 72 60 9 46 45 1 ISM2,missense_variant,p.Asn208Thr,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Asn208Thr,ENST00000493585,NM_182509.3;ISM2,intron_variant,,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,downstream_gene_variant,,ENST00000480979,;ISM2,upstream_gene_variant,,ENST00000487738,; G ENSG00000100593 ENST00000342219 Transcript missense_variant 680/2971 623/1716 208/571 N/T aAc/aCc rs1010830412 1 -1 ISM2 HGNC HGNC:23176 protein_coding YES CCDS9864.1 ENSP00000341490 Q6H9L7 UPI000019950C NM_199296.2 deleterious(0) benign(0.003) 3/7 hmmpanther:PTHR10239,hmmpanther:PTHR10239:SF28 MODERATE 1 SNV 1 PASS GTT . . 1.256e-05 3.085e-05 0.0001077 9.242e-06 77484327 AHNAK2 . GRCh38 chr14 104945438 104945438 + Missense_Mutation SNP G G A rs200966985 7316-946 BS_95W988HQ G G c.10013C>T p.Ala3338Val p.A3338V ENST00000333244 7/7 95 84 6 35 33 0 AHNAK2,missense_variant,p.Ala3338Val,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; A ENSG00000185567 ENST00000333244 Transcript missense_variant 10133/18254 10013/17388 3338/5795 A/V gCg/gTg rs200966985,COSM6217492 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0,1 MODERATE 1 SNV 5 0,1 PASS CGC . . 0.0003265 0.0026 0.0002101 0.0003497 4.484e-05 4.49e-05 0.0007192 104945438 AHNAK2 . GRCh38 chr14 104947442 104947442 + Missense_Mutation SNP A A G rs201739902 7316-946 BS_95W988HQ A A c.8009T>C p.Leu2670Ser p.L2670S ENST00000333244 7/7 54 28 26 28 26 0 AHNAK2,missense_variant,p.Leu2670Ser,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 8129/18254 8009/17388 2670/5795 L/S tTg/tCg rs201739902 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.0046 0.0174 MODERATE 1 SNV 5 PASS CAA . . 0.00094 0.01386 0.0003903 0.0002047 5.824e-05 3.588e-05 0.0003671 0.000196 104947442 AHNAK2 . GRCh38 chr14 104948006 104948006 + Missense_Mutation SNP C C T rs114755831 7316-946 BS_95W988HQ C C c.7445G>A p.Arg2482Lys p.R2482K ENST00000333244 7/7 44 38 5 15 14 0 AHNAK2,missense_variant,p.Arg2482Lys,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,; T ENSG00000185567 ENST00000333244 Transcript missense_variant 7565/18254 7445/17388 2482/5795 R/K aGg/aAg rs114755831,COSM6330726 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348,hmmpanther:PTHR23348 0.0086 0.0287 0.0043 0.002 0.02014 0.0003585 0,1 MODERATE 1 SNV 5 0,1 PASS CCT . . 0.00257 0.02553 0.005945 0.0003491 8.969e-05 0.0001167 0.002749 0.0003593 104948006 NIPA1 . GRCh38 chr15 22786657 22786657 + Translation_Start_Site SNP A A C novel 7316-946 BS_95W988HQ A A c.1A>C p.Met1? p.M1? ENST00000337435 1/5 65 49 12 26 26 0 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; C ENSG00000170113 ENST00000337435 Transcript start_lost 26/6567 1/990 1/329 M/L Atg/Ctg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS AAT . . 22786657 GJD2 . GRCh38 chr15 34753056 34753056 + Missense_Mutation SNP T T G 7316-946 BS_95W988HQ T T c.388A>C p.Thr130Pro p.T130P ENST00000290374 2/2 94 80 14 30 28 0 GJD2,missense_variant,p.Thr130Pro,ENST00000290374,NM_020660.2;AC087457.1,upstream_gene_variant,,ENST00000503496,;AC087457.1,upstream_gene_variant,,ENST00000558707,; G ENSG00000159248 ENST00000290374 Transcript missense_variant 865/2889 388/966 130/321 T/P Act/Cct COSM700040 1 -1 GJD2 HGNC HGNC:19154 protein_coding YES CCDS10040.1 ENSP00000290374 Q9UKL4 UPI00001287E3 NM_020660.2 tolerated(0.31) benign(0.021) 2/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF32,Pfam_domain:PF00029,Gene3D:1.20.1440.80,Prints_domain:PR01131 1 MODERATE 1 SNV 1 1 PASS GTT . . 34753056 ANKRD63 . GRCh38 chr15 40281921 40281921 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.666T>G p.Phe222Leu p.F222L ENST00000434396 1/1 96 83 9 48 47 0 ANKRD63,missense_variant,p.Phe222Leu,ENST00000434396,NM_001190479.2;PAK6,downstream_gene_variant,,ENST00000260404,NM_020168.5;PAK6,downstream_gene_variant,,ENST00000455577,NM_001276718.1;PAK6,downstream_gene_variant,,ENST00000542403,NM_001276717.1,NM_001128629.2;PLCB2,downstream_gene_variant,,ENST00000559671,;PAK6,downstream_gene_variant,,ENST00000560346,;AC020658.5,downstream_gene_variant,,ENST00000622487,;PLCB2,intron_variant,,ENST00000560009,; C ENSG00000230778 ENST00000434396 Transcript missense_variant 666/1143 666/1143 222/380 F/L ttT/ttG 1 -1 ANKRD63 HGNC HGNC:40027 protein_coding YES CCDS53929.1 ENSP00000399547 C9JTQ0 UPI00016626C9 NM_001190479.2 deleterious(0.01) unknown(0) 1/1 hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF30,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS CAA . . 40281921 INAFM2 . GRCh38 chr15 40324453 40324453 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.398T>G p.Leu133Arg p.L133R ENST00000638170 1/1 85 56 19 43 40 2 INAFM2,missense_variant,p.Leu133Arg,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; G ENSG00000259330 ENST00000638170 Transcript missense_variant 790/3052 398/462 133/153 L/R cTc/cGc 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS CTC . . 40324453 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 87 56 13 39 36 1 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 CHST14 . GRCh38 chr15 40471251 40471251 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.38A>C p.Asn13Thr p.N13T ENST00000306243 1/1 74 52 12 38 36 1 CHST14,missense_variant,p.Asn13Thr,ENST00000306243,NM_130468.3;CHST14,missense_variant,p.Asn13Thr,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000416165,NM_014952.4;BAHD1,downstream_gene_variant,,ENST00000560846,;BAHD1,downstream_gene_variant,,ENST00000561234,NM_001301132.1;AC013356.2,upstream_gene_variant,,ENST00000559730,;,regulatory_region_variant,,ENSR00000075526,; C ENSG00000169105 ENST00000306243 Transcript missense_variant 254/3574 38/1131 13/376 N/T aAt/aCt 1 1 CHST14 HGNC HGNC:24464 protein_coding YES CCDS10059.1 ENSP00000307297 Q8NCH0 UPI000004616D NM_130468.3 tolerated_low_confidence(0.6) benign(0.006) 1/1 MODERATE SNV 1 PASS AAT . . 40471251 FBN1 . GRCh38 chr15 48434588 48434588 + Splice_Region SNP A A C novel 7316-946 BS_95W988HQ A A c.6616+6T>G ENST00000316623 65 58 7 40 39 0 FBN1,splice_region_variant,,ENST00000316623,NM_000138.4;FBN1,splice_region_variant,,ENST00000537463,;FBN1,splice_region_variant,,ENST00000559133,;FBN1,upstream_gene_variant,,ENST00000560720,;FBN1,downstream_gene_variant,,ENST00000560820,; C ENSG00000166147 ENST00000316623 Transcript splice_region_variant,intron_variant 1 -1 FBN1 HGNC HGNC:3603 protein_coding YES CCDS32232.1 ENSP00000325527 P35555 UPI0000EE4EBC NM_000138.4 54/65 LOW 1 SNV 1 1 PASS GAT . . 48434588 FBXO22 . GRCh38 chr15 75904515 75904515 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.165T>G p.Cys55Trp p.C55W ENST00000308275 2/7 84 72 8 29 28 0 FBXO22,missense_variant,p.Cys55Trp,ENST00000308275,NM_147188.2;FBXO22,missense_variant,p.Cys55Trp,ENST00000453211,NM_012170.3;FBXO22,missense_variant,p.Cys49Trp,ENST00000565036,;FBXO22,5_prime_UTR_variant,,ENST00000569054,;UBE2Q2,downstream_gene_variant,,ENST00000267938,NM_173469.3;UBE2Q2,downstream_gene_variant,,ENST00000426727,;UBE2Q2,downstream_gene_variant,,ENST00000561851,NM_001145335.1;UBE2Q2,downstream_gene_variant,,ENST00000569423,NM_001284382.1;FBXO22,non_coding_transcript_exon_variant,,ENST00000565131,;FBXO22,missense_variant,p.Cys55Trp,ENST00000569749,;FBXO22,intron_variant,,ENST00000569022,;UBE2Q2,downstream_gene_variant,,ENST00000567921,;,regulatory_region_variant,,ENSR00000079474,; G ENSG00000167196 ENST00000308275 Transcript missense_variant 270/10725 165/1212 55/403 C/W tgT/tgG 1 1 FBXO22 HGNC HGNC:13593 protein_coding YES CCDS10287.1 ENSP00000307833 Q8NEZ5 UPI0000049FDF NM_147188.2 deleterious(0.03) probably_damaging(0.999) 2/7 Gene3D:1.20.1280.50,Pfam_domain:PF00646,hmmpanther:PTHR14939,hmmpanther:PTHR14939:SF5,Superfamily_domains:SSF81383 MODERATE 1 SNV 1 PASS GTG . . 75904515 MAZ . GRCh38 chr16 29807204 29807204 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.419T>G p.Val140Gly p.V140G ENST00000219782 2/6 59 38 9 30 26 0 MAZ,missense_variant,p.Val140Gly,ENST00000219782,NM_001042539.2;MAZ,missense_variant,p.Val140Gly,ENST00000322945,NM_002383.3;MAZ,missense_variant,p.Val117Gly,ENST00000545521,NM_001276275.1;MAZ,intron_variant,,ENST00000562337,NM_001276276.1;MAZ,intron_variant,,ENST00000563402,;MAZ,intron_variant,,ENST00000566906,;KIF22,downstream_gene_variant,,ENST00000160827,NM_007317.2;PRRT2,upstream_gene_variant,,ENST00000358758,NM_145239.2;KIF22,downstream_gene_variant,,ENST00000400751,;KIF22,downstream_gene_variant,,ENST00000561482,NM_001256270.1,NM_001256269.1;PRRT2,upstream_gene_variant,,ENST00000562148,;MAZ,upstream_gene_variant,,ENST00000562557,;MAZ,upstream_gene_variant,,ENST00000563012,;MAZ,upstream_gene_variant,,ENST00000567444,;PRRT2,upstream_gene_variant,,ENST00000567551,;PRRT2,upstream_gene_variant,,ENST00000567659,NM_001256442.1;MAZ,upstream_gene_variant,,ENST00000568282,;MAZ,upstream_gene_variant,,ENST00000568411,;MAZ,upstream_gene_variant,,ENST00000568544,;KIF22,downstream_gene_variant,,ENST00000569382,;MAZ,upstream_gene_variant,,ENST00000569978,;MAZ,upstream_gene_variant,,ENST00000616501,;PRRT2,upstream_gene_variant,,ENST00000636619,;PRRT2,upstream_gene_variant,,ENST00000637565,;PRRT2,upstream_gene_variant,,ENST00000637596,;AC009133.2,intron_variant,,ENST00000566537,;AC009133.1,downstream_gene_variant,,ENST00000563806,;AC009133.1,downstream_gene_variant,,ENST00000569039,;AC009133.1,downstream_gene_variant,,ENST00000569981,;AC009133.4,upstream_gene_variant,,ENST00000619159,;AC009133.5,upstream_gene_variant,,ENST00000562594,;PRRT2,upstream_gene_variant,,ENST00000568516,;PRRT2,upstream_gene_variant,,ENST00000636001,;PRRT2,upstream_gene_variant,,ENST00000637542,;MAZ,intron_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000565777,;KIF22,downstream_gene_variant,,ENST00000568312,;PRRT2,upstream_gene_variant,,ENST00000636131,;PRRT2,upstream_gene_variant,,ENST00000637290,;,regulatory_region_variant,,ENSR00000280275,; G ENSG00000103495 ENST00000219782 Transcript missense_variant 525/2698 419/1482 140/493 V/G gTg/gGg 1 1 MAZ HGNC HGNC:6914 protein_coding YES CCDS42144.1 ENSP00000219782 P56270 UPI00001AE621 NM_001042539.2 deleterious_low_confidence(0.01) benign(0.007) 2/6 Gene3D:3.30.60.60,hmmpanther:PTHR45257,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 29807204 ZNF267 . GRCh38 chr16 31916063 31916063 + Missense_Mutation SNP C C A novel 7316-946 BS_95W988HQ C C c.1814C>A p.Thr605Lys p.T605K ENST00000300870 4/4 72 64 7 48 46 1 ZNF267,missense_variant,p.Thr605Lys,ENST00000300870,NM_003414.5;ZNF267,downstream_gene_variant,,ENST00000394846,;ZNF267,downstream_gene_variant,,ENST00000562971,NM_001265588.1;ZNF267,non_coding_transcript_exon_variant,,ENST00000575471,;ZNF267,downstream_gene_variant,,ENST00000561814,;ZNF267,downstream_gene_variant,,ENST00000566541,; A ENSG00000185947 ENST00000300870 Transcript missense_variant 2023/3317 1814/2232 605/743 T/K aCa/aAa 1 1 ZNF267 HGNC HGNC:13060 protein_coding YES CCDS32440.1 ENSP00000300870 Q14586 UPI000045696F NM_003414.5 tolerated(1) benign(0.006) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF88,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ACA . . 31916063 UBB . GRCh38 chr17 16382183 16382183 + Missense_Mutation SNP A A C 7316-946 BS_95W988HQ A A c.276A>C p.Glu92Asp p.E92D ENST00000302182 2/2 60 40 7 23 21 0 UBB,missense_variant,p.Glu92Asp,ENST00000302182,NM_001281720.1,NM_018955.3,NM_001281716.1;UBB,missense_variant,p.Glu92Asp,ENST00000614404,NM_001281717.1;UBB,missense_variant,p.Glu92Asp,ENST00000395837,NM_001281718.1;UBB,missense_variant,p.Glu92Asp,ENST00000395839,NM_001281719.1;UBB,missense_variant,p.Glu92Asp,ENST00000577640,;UBB,missense_variant,p.Glu92Asp,ENST00000578706,;UBB,intron_variant,,ENST00000535788,;UBB,downstream_gene_variant,,ENST00000577958,;AC093484.3,non_coding_transcript_exon_variant,,ENST00000583934,;UBB,intron_variant,,ENST00000578649,; C ENSG00000170315 ENST00000302182 Transcript missense_variant 668/1225 276/690 92/229 E/D gaA/gaC COSM307160 1 1 UBB HGNC HGNC:12463 protein_coding YES CCDS11177.1 ENSP00000304697 P0CG47 Q5U5U6 UPI0000002146 NM_001281720.1,NM_018955.3,NM_001281716.1 tolerated(0.34) benign(0.009) 2/2 PDB-ENSP_mappings:2y5b.B,PDB-ENSP_mappings:2y5b.F,PDB-ENSP_mappings:5jg6.B,PDB-ENSP_mappings:5jg6.C,PDB-ENSP_mappings:5l9t.S,PDB-ENSP_mappings:5ucl.A,cd01803,Pfam_domain:PF00240,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236,PROSITE_profiles:PS50053,hmmpanther:PTHR45095:SF2,hmmpanther:PTHR45095:SF2,hmmpanther:PTHR45095,hmmpanther:PTHR45095 1 MODERATE 1 SNV 1 1 1 PASS AAG . . 16382183 FBXW10 . GRCh38 chr17 18779086 18779086 + Missense_Mutation SNP A A G rs1318979 7316-946 BS_95W988HQ A A c.2947A>G p.Thr983Ala p.T983A ENST00000395665 14/14 50 42 8 19 19 0 FBXW10,missense_variant,p.Thr992Ala,ENST00000308799,;FBXW10,missense_variant,p.Thr983Ala,ENST00000395665,NM_001267585.1;FBXW10,missense_variant,p.Thr930Ala,ENST00000301938,NM_001267586.1;TVP23B,upstream_gene_variant,,ENST00000307767,NM_016078.5;TVP23B,upstream_gene_variant,,ENST00000476139,NM_001316919.1,NM_001316923.1,NM_001316921.1,NM_001316922.1;TVP23B,upstream_gene_variant,,ENST00000574226,NM_001316924.1;TVP23B,upstream_gene_variant,,ENST00000575261,;FBXW10,3_prime_UTR_variant,,ENST00000574478,;TVP23B,upstream_gene_variant,,ENST00000571018,;TVP23B,upstream_gene_variant,,ENST00000574294,;TVP23B,upstream_gene_variant,,ENST00000582288,; G ENSG00000171931 ENST00000395665 Transcript missense_variant 3168/3431 2947/3159 983/1052 T/A Act/Gct rs1318979,COSM3819000,COSM221830 1 1 FBXW10 HGNC HGNC:1211 protein_coding YES CCDS11199.3 ENSP00000379025 Q5XX13 UPI0000200B30 NM_001267585.1 tolerated(0.08) probably_damaging(0.956) 14/14 hmmpanther:PTHR19872 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CAC . . 0.07704 0.1085 0.09816 0.08949 0.04753 0.07662 0.08135 0.09304 0.0393 18779086 FMNL1 . GRCh38 chr17 45222182 45222182 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.58A>C p.Lys20Gln p.K20Q ENST00000331495 1/27 68 54 7 29 29 0 FMNL1,missense_variant,p.Lys20Gln,ENST00000331495,NM_005892.3;FMNL1,missense_variant,p.Lys20Gln,ENST00000328118,;AC008105.3,non_coding_transcript_exon_variant,,ENST00000591365,;AC008105.3,upstream_gene_variant,,ENST00000585471,;AC008105.3,upstream_gene_variant,,ENST00000586376,;AC008105.3,upstream_gene_variant,,ENST00000590495,;AC008105.3,upstream_gene_variant,,ENST00000590522,;FMNL1,downstream_gene_variant,,ENST00000592415,;,regulatory_region_variant,,ENSR00000283521,; C ENSG00000184922 ENST00000331495 Transcript missense_variant 394/4101 58/3303 20/1100 K/Q Aag/Cag 1 1 FMNL1 HGNC HGNC:1212 protein_coding YES CCDS11497.1 ENSP00000329219 O95466 UPI0000246EE9 NM_005892.3 tolerated(0.46) possibly_damaging(0.614) 1/27 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAA . . 45222182 RFNG . GRCh38 chr17 82051625 82051625 + Missense_Mutation SNP A A C rs1282102564 7316-946 BS_95W988HQ A A c.142T>G p.Ser48Ala p.S48A ENST00000310496 1/8 34 23 8 29 28 0 RFNG,missense_variant,p.Ser48Ala,ENST00000310496,NM_002917.1;GPS1,intron_variant,,ENST00000580716,;GPS1,intron_variant,,ENST00000582327,;GPS1,intron_variant,,ENST00000583961,;GPS1,intron_variant,,ENST00000585084,;GPS1,upstream_gene_variant,,ENST00000306823,NM_004127.5,NM_001321089.1;GPS1,upstream_gene_variant,,ENST00000320548,NM_001321093.1;GPS1,upstream_gene_variant,,ENST00000392358,NM_212492.2;RFNG,upstream_gene_variant,,ENST00000429557,;GPS1,upstream_gene_variant,,ENST00000578168,;RFNG,upstream_gene_variant,,ENST00000578356,;GPS1,upstream_gene_variant,,ENST00000578552,NM_001321090.1,NM_001321092.1;GPS1,upstream_gene_variant,,ENST00000581418,;GPS1,upstream_gene_variant,,ENST00000581578,;GPS1,upstream_gene_variant,,ENST00000583009,;GPS1,upstream_gene_variant,,ENST00000583641,;GPS1,upstream_gene_variant,,ENST00000583885,;GPS1,upstream_gene_variant,,ENST00000623691,NM_001321091.1;GPS1,upstream_gene_variant,,ENST00000623761,;GPS1,upstream_gene_variant,,ENST00000624957,;GPS1,intron_variant,,ENST00000583983,;RFNG,upstream_gene_variant,,ENST00000580928,;GPS1,upstream_gene_variant,,ENST00000584229,;RFNG,upstream_gene_variant,,ENST00000584838,;RFNG,non_coding_transcript_exon_variant,,ENST00000582478,;GPS1,upstream_gene_variant,,ENST00000392357,;GPS1,upstream_gene_variant,,ENST00000578279,;GPS1,upstream_gene_variant,,ENST00000578392,;GPS1,upstream_gene_variant,,ENST00000578642,;RFNG,upstream_gene_variant,,ENST00000578676,;GPS1,upstream_gene_variant,,ENST00000580141,;GPS1,upstream_gene_variant,,ENST00000580627,;GPS1,upstream_gene_variant,,ENST00000580723,;RFNG,upstream_gene_variant,,ENST00000580793,;RFNG,upstream_gene_variant,,ENST00000580953,;GPS1,upstream_gene_variant,,ENST00000583486,;RFNG,upstream_gene_variant,,ENST00000583784,;GPS1,upstream_gene_variant,,ENST00000584460,;RFNG,upstream_gene_variant,,ENST00000584463,;RFNG,upstream_gene_variant,,ENST00000584515,;,regulatory_region_variant,,ENSR00000099527,; C ENSG00000169733 ENST00000310496 Transcript missense_variant 150/1828 142/996 48/331 S/A Tcc/Gcc rs1282102564 1 -1 RFNG HGNC HGNC:9974 protein_coding YES CCDS32773.1 ENSP00000307971 Q9Y644 UPI00001A6F5D NM_002917.1 tolerated(0.75) benign(0) 1/8 PIRSF_domain:PIRSF038073,hmmpanther:PTHR10811,hmmpanther:PTHR10811:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 2 PASS GAC . . 82051625 MUC16 . GRCh38 chr19 8937530 8937530 + Missense_Mutation SNP A A G rs760319775 7316-946 BS_95W988HQ A A c.33425T>C p.Leu11142Pro p.L11142P ENST00000397910 5/84 94 80 11 43 41 1 MUC16,missense_variant,p.Leu11142Pro,ENST00000397910,NM_024690.2; G ENSG00000181143 ENST00000397910 Transcript missense_variant 33629/43816 33425/43524 11142/14507 L/P cTa/cCa rs760319775 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0) 5/84 hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 MODERATE 1 SNV 5 1 PASS TAG . . 4.068e-06 8.965e-06 8937530 ZNF709 . GRCh38 chr19 12464516 12464516 + Missense_Mutation SNP A A G rs878940953 7316-946 BS_95W988HQ A A c.1406T>C p.Ile469Thr p.I469T ENST00000397732 4/4 63 44 8 38 35 1 ZNF709,missense_variant,p.Ile469Thr,ENST00000397732,NM_152601.3;AC008758.1,missense_variant,p.Ile469Thr,ENST00000428311,;ZNF709,downstream_gene_variant,,ENST00000455490,;AC008758.2,downstream_gene_variant,,ENST00000420038,;AC008758.6,intron_variant,,ENST00000598753,; G ENSG00000242852 ENST00000397732 Transcript missense_variant 1578/4910 1406/1926 469/641 I/T aTt/aCt rs878940953,COSM6280509 1 -1 ZNF709 HGNC HGNC:20629 protein_coding YES CCDS42504.1 ENSP00000380840 Q8N972 UPI000006CF50 NM_152601.3 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR44539,hmmpanther:PTHR44539,hmmpanther:PTHR44539:SF2,hmmpanther:PTHR44539:SF2,PROSITE_patterns:PS00028,PIRSF_domain:PIRSF037162,PIRSF_domain:PIRSF037162,PIRSF_domain:PIRSF037162,Gene3D:2.40.155.10,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS AAT . . 1.7e-05 6.777e-05 3.298e-05 4.541e-05 9.18e-06 12464516 ZNF493 . GRCh38 chr19 21424451 21424451 + Nonsense_Mutation SNP A A T novel 7316-946 BS_95W988HQ A A c.1792A>T p.Lys598Ter p.K598* ENST00000392288 4/4 66 51 8 41 37 0 ZNF493,stop_gained,p.Lys598Ter,ENST00000392288,NM_001076678.2;ZNF493,stop_gained,p.Lys470Ter,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;AC010615.4,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,; T ENSG00000196268 ENST00000392288 Transcript stop_gained 1901/5023 1792/2325 598/774 K/* Aag/Tag 1 1 ZNF493 HGNC HGNC:23708 protein_coding YES CCDS42536.1 ENSP00000376110 Q6ZR52 UPI000022ABBF NM_001076678.2 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,Gene3D:2.20.25.10,PIRSF_domain:PIRSF013212,Superfamily_domains:SSF57667 HIGH 1 SNV 1 PASS TAA . . 21424451 ZNF43 . GRCh38 chr19 21809031 21809031 + Missense_Mutation SNP G G T rs1181838337 7316-946 BS_95W988HQ G G c.1033C>A p.His345Asn p.H345N ENST00000357491 4/4 65 56 9 39 39 0 ZNF43,missense_variant,p.His330Asn,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.His345Asn,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.His330Asn,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.His330Asn,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.His336Asn,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 1167/5249 1033/2457 345/818 H/N Cat/Aat rs1181838337,COSM4457103 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 deleterious(0) benign(0.436) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TGA . . 21809031 ZNF461 . GRCh38 chr19 36638846 36638846 + Missense_Mutation SNP T T C rs1193658138 7316-946 BS_95W988HQ T T c.1499A>G p.Lys500Arg p.K500R ENST00000588268 6/6 72 57 7 39 35 2 ZNF461,missense_variant,p.Lys500Arg,ENST00000588268,NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1;ZNF461,missense_variant,p.Lys477Arg,ENST00000360357,NM_001322827.1,NM_001322826.1,NM_001297623.2;ZNF461,missense_variant,p.Lys500Arg,ENST00000614133,;ZNF461,missense_variant,p.Lys231Arg,ENST00000618437,;ZNF382,downstream_gene_variant,,ENST00000292928,NM_032825.4;ZNF461,downstream_gene_variant,,ENST00000591370,NM_001322828.1;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000588844,;ZNF461,downstream_gene_variant,,ENST00000590361,; C ENSG00000197808 ENST00000588268 Transcript missense_variant 1727/2584 1499/1692 500/563 K/R aAg/aGg rs1193658138,COSM5956611,COSM5956610 1 -1 ZNF461 HGNC HGNC:21629 protein_coding YES CCDS54257.1 ENSP00000467931 Q8TAF7 UPI00002021CA NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1 tolerated(0.1) benign(0.177) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF277,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CTT . . 36638846 MAP3K10 . GRCh38 chr19 40192033 40192033 + Translation_Start_Site SNP T T G novel 7316-946 BS_95W988HQ T T c.2T>G p.Met1? p.M1? ENST00000253055 1/10 79 60 16 29 26 1 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; G ENSG00000130758 ENST00000253055 Transcript start_lost 290/3436 2/2865 1/954 M/R aTg/aGg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS ATG . . 40192033 ZNF283 . GRCh38 chr19 43848315 43848315 + Missense_Mutation SNP A A G 7316-946 BS_95W988HQ A A c.1714A>G p.Lys572Glu p.K572E ENST00000618787 7/7 74 61 7 40 39 0 ZNF283,missense_variant,p.Lys572Glu,ENST00000618787,NM_181845.1;ZNF283,missense_variant,p.Lys433Glu,ENST00000588797,NM_001297752.1;ZNF283,missense_variant,p.Lys572Glu,ENST00000324461,; G ENSG00000167637 ENST00000618787 Transcript missense_variant 2011/5713 1714/2040 572/679 K/E Aaa/Gaa COSM6211997 1 1 ZNF283 HGNC HGNC:13077 protein_coding YES CCDS46097.1 ENSP00000484852 Q8N7M2 UPI000155B91C NM_181845.1 tolerated(1) benign(0.014) 7/7 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377:SF142,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS CAA . . 43848315 ZNF586 . GRCh38 chr19 57779642 57779642 + Missense_Mutation SNP A A G rs779778347 7316-946 BS_95W988HQ A A c.1055A>G p.Lys352Arg p.K352R ENST00000396154 3/3 57 46 5 38 36 0 ZNF586,missense_variant,p.Lys309Arg,ENST00000391702,NM_001204814.1;ZNF586,missense_variant,p.Lys352Arg,ENST00000396154,NM_017652.3;ZNF586,3_prime_UTR_variant,,ENST00000396150,NM_001077426.2;ZNF586,intron_variant,,ENST00000598183,;ZNF586,intron_variant,,ENST00000598885,;ZNF586,intron_variant,,ENST00000599802,; G ENSG00000083828 ENST00000396154 Transcript missense_variant 1228/2163 1055/1209 352/402 K/R aAa/aGa rs779778347 1 1 ZNF586 HGNC HGNC:25949 protein_coding YES CCDS42640.1 ENSP00000379458 Q9NXT0 UPI0000202D48 NM_017652.3 deleterious(0.04) probably_damaging(0.995) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF708,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAA . . 4.063e-06 8.953e-06 57779642 ZNF544 . GRCh38 chr19 58262038 58262038 + Missense_Mutation SNP G G C rs1201369364 7316-946 BS_95W988HQ G G c.1432G>C p.Glu478Gln p.E478Q ENST00000269829 4/4 46 37 7 44 41 0 ZNF544,missense_variant,p.Glu478Gln,ENST00000269829,;ZNF544,missense_variant,p.Glu450Gln,ENST00000600220,NM_001320773.1,NM_001320771.1;ZNF544,missense_variant,p.Glu478Gln,ENST00000596652,NM_001320769.1,NM_001320787.1,NM_001320774.1,NM_014480.3,NM_001320767.1,NM_001320777.1,NM_001320786.1,NM_001320785.1;ZNF544,missense_variant,p.Glu450Gln,ENST00000600044,NM_001320770.1;ZNF544,missense_variant,p.Glu336Gln,ENST00000599953,;ZNF544,3_prime_UTR_variant,,ENST00000599227,NM_001320791.1,NM_001320792.1,NM_001320788.1;ZNF544,3_prime_UTR_variant,,ENST00000596825,NM_001320789.1,NM_001320781.1;ZNF544,intron_variant,,ENST00000595981,;ZNF544,intron_variant,,ENST00000596929,NM_001320782.1;ZNF544,downstream_gene_variant,,ENST00000594384,;AC020915.3,intron_variant,,ENST00000597230,;AC020915.2,upstream_gene_variant,,ENST00000595301,;ZNF544,downstream_gene_variant,,ENST00000598880,;ZNF544,3_prime_UTR_variant,,ENST00000596677,;AC020915.5,intron_variant,,ENST00000637233,;AC020915.5,intron_variant,,ENST00000637310,; C ENSG00000198131 ENST00000269829 Transcript missense_variant 1493/3547 1432/2148 478/715 E/Q Gag/Cag rs1201369364,COSM5956413 1 1 ZNF544 HGNC HGNC:16759 protein_coding YES CCDS12973.1 ENSP00000269829 Q6NX49 UPI000013D856 tolerated(0.32) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS TGA . . 58262038 JPH2 . GRCh38 chr20 44160189 44160189 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.598T>G p.Phe200Val p.F200V ENST00000372980 2/6 69 54 12 39 38 0 JPH2,missense_variant,p.Phe200Val,ENST00000372980,NM_020433.4; C ENSG00000149596 ENST00000372980 Transcript missense_variant 1471/4787 598/2091 200/696 F/V Ttc/Gtc 1 -1 JPH2 HGNC HGNC:14202 protein_coding YES CCDS13325.1 ENSP00000362071 Q9BR39 UPI000012DAC2 NM_020433.4 deleterious(0) probably_damaging(0.994) 2/6 PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF16 MODERATE 1 SNV 5 1 PASS AAG . . 44160189 CDH26 . GRCh38 chr20 60012678 60012678 + Nonsense_Mutation SNP C C A novel 7316-946 BS_95W988HQ C C c.2447C>A p.Ser816Ter p.S816* ENST00000348616 18/18 64 54 9 40 40 0 CDH26,stop_gained,p.Ser816Ter,ENST00000348616,NM_177980.2;CDH26,stop_gained,p.Ser149Ter,ENST00000350849,NM_021810.4;CDH26,stop_gained,p.Ser108Ter,ENST00000244049,;CDH26,intron_variant,,ENST00000370991,;CDH26,downstream_gene_variant,,ENST00000456106,;CDH26,non_coding_transcript_exon_variant,,ENST00000497614,; A ENSG00000124215 ENST00000348616 Transcript stop_gained 2747/3182 2447/2499 816/832 S/* tCa/tAa 1 1 CDH26 HGNC HGNC:15902 protein_coding YES CCDS13485.1 ENSP00000339390 Q8IXH8 UPI000013CB55 NM_177980.2 18/18 mobidb-lite,Gene3D:4.10.900.10,hmmpanther:PTHR24027:SF78,hmmpanther:PTHR24027 HIGH 1 SNV 2 PASS TCA . . 60012678 MRGBP . GRCh38 chr20 62796525 62796525 + Translation_Start_Site SNP T T G novel 7316-946 BS_95W988HQ T T c.2T>G p.Met1? p.M1? ENST00000370487 1/5 91 80 5 26 26 0 MRGBP,start_lost,p.Met1?,ENST00000370487,NM_018270.5;OGFR-AS1,downstream_gene_variant,,ENST00000431361,;,regulatory_region_variant,,ENSR00000139798,; G ENSG00000101189 ENST00000370487 Transcript start_lost 73/2781 2/615 1/204 M/R aTg/aGg 1 1 MRGBP HGNC HGNC:15866 protein_coding YES CCDS13503.1 ENSP00000359518 Q9NV56 UPI0000049FC0 NM_018270.5 deleterious_low_confidence(0) benign(0.014) 1/5 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 62796525 KRTAP10-11 . GRCh38 chr21 44647009 44647009 + Missense_Mutation SNP A A C novel 7316-946 BS_95W988HQ A A c.551A>C p.Tyr184Ser p.Y184S ENST00000334670 1/1 75 53 9 44 41 1 KRTAP10-11,missense_variant,p.Tyr184Ser,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000243489 ENST00000334670 Transcript missense_variant 596/1237 551/897 184/298 Y/S tAc/tCc 1 1 KRTAP10-11 HGNC HGNC:20528 protein_coding YES CCDS42962.1 ENSP00000334197 P60412 UPI000040FC94 NM_198692.2 tolerated(0.12) benign(0) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF125 MODERATE SNV PASS TAC . . 44647009 COL6A1 . GRCh38 chr21 45994236 45994236 + Splice_Region SNP A A C novel 7316-946 BS_95W988HQ A A c.1398+7A>C ENST00000361866 77 56 14 21 20 0 COL6A1,splice_region_variant,,ENST00000361866,NM_001848.2;COL6A1,splice_region_variant,,ENST00000612273,; C ENSG00000142156 ENST00000361866 Transcript splice_region_variant,intron_variant 1 1 COL6A1 HGNC HGNC:2211 protein_coding YES CCDS13727.1 ENSP00000355180 P12109 UPI000019B179 NM_001848.2 20/34 LOW 1 SNV 1 1 PASS AAG . . 45994236 TUBGCP6 . GRCh38 chr22 50220642 50220642 + Missense_Mutation SNP G G C rs878999493 7316-946 BS_95W988HQ G G c.3717C>G p.Cys1239Trp p.C1239W ENST00000248846 16/25 91 74 10 38 35 0 TUBGCP6,missense_variant,p.Cys1239Trp,ENST00000439308,;TUBGCP6,missense_variant,p.Cys1239Trp,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; C ENSG00000128159 ENST00000248846 Transcript missense_variant 3822/5612 3717/5460 1239/1819 C/W tgC/tgG rs878999493,COSM6238520 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 tolerated(0.29) benign(0.001) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 0,1 MODERATE 1 SNV 1 0,1 1 PASS TGC . . 4.434e-06 3.595e-05 50220642 CSF2RA . GRCh38 chrX 1303299 1303299 + Missense_Mutation SNP A A G rs111364616 7316-946 BS_95W988HQ A A c.985A>G p.Asn329Asp p.N329D ENST00000417535 11/14 75 53 12 38 36 2 CSF2RA,missense_variant,p.Asn329Asp,ENST00000417535,NM_001161530.1;CSF2RA,intron_variant,,ENST00000355432,NM_172246.2;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2;CSF2RA,intron_variant,,ENST00000381500,NM_172247.2;CSF2RA,intron_variant,,ENST00000381509,NM_001161531.1;CSF2RA,intron_variant,,ENST00000381524,;CSF2RA,intron_variant,,ENST00000381529,NM_172245.2,NM_006140.4;CSF2RA,intron_variant,,ENST00000432318,NM_001161529.1;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;RNA5SP498,upstream_gene_variant,,ENST00000411342,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000498153,;CSF2RA,intron_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000493312,;CSF2RA,intron_variant,,ENST00000486791,; G ENSG00000198223 ENST00000417535 Transcript missense_variant 1179/1955 985/1305 329/434 N/D Aat/Gat rs111364616,COSM5956821 1 1 CSF2RA HGNC HGNC:2435 protein_coding YES CCDS55359.1 ENSP00000394227 P15509 UPI000159C3E4 NM_001161530.1 tolerated(0.65) benign(0) 11/14 hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF94 0,1 MODERATE 1 SNV 5 0,1 1 PASS CAA . . 0.0005365 0.005525 0.001399 0.0007042 0.001825 0.0001209 0.0007163 1303299 RTL5 . GRCh38 chrX 72131168 72131168 + Missense_Mutation SNP T T G novel 7316-946 BS_95W988HQ T T c.373A>C p.Ile125Leu p.I125L ENST00000609883 1/1 40 34 5 17 16 0 RTL5,missense_variant,p.Ile125Leu,ENST00000609883,NM_001024455.3;NHSL2,intron_variant,,ENST00000631375,;NHSL2,intron_variant,,ENST00000632230,;NHSL2,intron_variant,,ENST00000633930,NM_001013627.2;NHSL2,upstream_gene_variant,,ENST00000510661,;NHSL2,upstream_gene_variant,,ENST00000639939,;NHSL2,intron_variant,,ENST00000631833,;RTL5,missense_variant,p.Ile125Leu,ENST00000479991,;NHSL2,upstream_gene_variant,,ENST00000373677,;,regulatory_region_variant,,ENSR00000247194,;,TF_binding_site_variant,,MA0162.2,; G ENSG00000242732 ENST00000609883 Transcript missense_variant 661/4105 373/1710 125/569 I/L Atc/Ctc 1 -1 RTL5 HGNC HGNC:29430 protein_coding YES CCDS55446.1 ENSP00000476792 Q5HYW3 UPI00001C2079 NM_001024455.3 tolerated(0.65) benign(0.001) 1/1 Gene3D:3.40.50.300,hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS ATG . . 72131168 ARMCX4 . GRCh38 chrX 101491003 101491003 + Missense_Mutation SNP A A G rs944358836 7316-946 BS_95W988HQ A A c.2414A>G p.Lys805Arg p.K805R ENST00000423738 2/2 36 28 6 25 23 0 ARMCX4,missense_variant,p.Lys805Arg,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; G ENSG00000196440 ENST00000423738 Transcript missense_variant 2616/7424 2414/6873 805/2290 K/R aAg/aGg rs944358836 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.29) probably_damaging(0.981) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS AAG . . 101491003 TEX13D . GRCh38 chrX 124334206 124334206 + Missense_Mutation SNP T T G rs1248850930 7316-946 BS_95W988HQ T T c.1289T>G p.Ile430Ser p.I430S ENST00000632372 1/1 35 21 11 20 19 0 TEX13D,missense_variant,p.Ile430Ser,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; G ENSG00000282419 ENST00000632372 Transcript missense_variant 1547/4203 1289/2145 430/714 I/S aTc/aGc rs1248850930 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.89) benign(0.011) 1/1 MODERATE 1 SNV PASS ATC . . 124334206 TEX13D . GRCh38 chrX 124334213 124334213 + Missense_Mutation SNP G G C rs1199315517 7316-946 BS_95W988HQ G G c.1296G>C p.Arg432Ser p.R432S ENST00000632372 1/1 35 23 10 19 18 0 TEX13D,missense_variant,p.Arg432Ser,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; C ENSG00000282419 ENST00000632372 Transcript missense_variant 1554/4203 1296/2145 432/714 R/S agG/agC rs1199315517 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.54) benign(0.011) 1/1 mobidb-lite MODERATE 1 SNV PASS GGT . . 124334213 TEX13D . GRCh38 chrX 124334728 124334728 + Missense_Mutation SNP G G C rs112652307 7316-946 BS_95W988HQ G G c.1811G>C p.Arg604Pro p.R604P ENST00000632372 1/1 33 27 5 15 15 0 TEX13D,missense_variant,p.Arg604Pro,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; C ENSG00000282419 ENST00000632372 Transcript missense_variant 2069/4203 1811/2145 604/714 R/P cGa/cCa rs112652307 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.33) benign(0) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28,mobidb-lite MODERATE 1 SNV PASS CGA . . 124334728 LRRIQ3 . GRCh38 chr1 74041679 74041679 + Nonsense_Mutation SNP G G A rs753314061 7316-267 BS_251Z13NC G G c.1252C>T p.Arg418Ter p.R418* ENST00000354431 7/8 74 46 27 42 42 0 LRRIQ3,stop_gained,p.Arg418Ter,ENST00000354431,NM_001322315.1,NM_001105659.1;LRRIQ3,stop_gained,p.Arg418Ter,ENST00000395089,;LRRIQ3,intron_variant,,ENST00000417067,;LRRIQ3,intron_variant,,ENST00000415760,; A ENSG00000162620 ENST00000354431 Transcript stop_gained 1444/2849 1252/1875 418/624 R/* Cga/Tga rs753314061,COSM3400992 1 -1 LRRIQ3 HGNC HGNC:28318 protein_coding YES CCDS41350.1 ENSP00000346414 A6PVS8 UPI000155D493 NM_001322315.1,NM_001105659.1 7/8 hmmpanther:PTHR10552,Gene3D:3.80.10.10 0,1 HIGH 1 SNV 5 0,1 PASS CGG . . 1.631e-05 6.545e-05 5.805e-05 1.801e-05 74041679 ST6GALNAC5 . GRCh38 chr1 77044270 77044270 + Nonsense_Mutation SNP C C T novel 7316-267 BS_251Z13NC C C c.328C>T p.Gln110Ter p.Q110* ENST00000477717 3/5 56 40 16 33 33 0 ST6GALNAC5,stop_gained,p.Gln110Ter,ENST00000477717,NM_001320273.1,NM_030965.2;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000488940,;ST6GALNAC5,stop_gained,p.Gln110Ter,ENST00000318803,; T ENSG00000117069 ENST00000477717 Transcript stop_gained 563/3751 328/1011 110/336 Q/* Caa/Taa 1 1 ST6GALNAC5 HGNC HGNC:19342 protein_coding YES CCDS673.1 ENSP00000417583 Q9BVH7 UPI0000001C9F NM_001320273.1,NM_030965.2 3/5 hmmpanther:PTHR13713:SF33,hmmpanther:PTHR13713,PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,Gene3D:3.90.1480.10 HIGH 1 SNV 1 PASS GCA . . 77044270 TCHH . GRCh38 chr1 152111812 152111812 + Missense_Mutation SNP G G C rs778163780 7316-267 BS_251Z13NC G G c.1405C>G p.Gln469Glu p.Q469E ENST00000614923 3/3 43 36 5 32 32 0 TCHH,missense_variant,p.Gln469Glu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Gln469Glu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; C ENSG00000159450 ENST00000614923 Transcript missense_variant 1500/6995 1405/5832 469/1943 Q/E Cag/Gag rs778163780 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 benign(0.001) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,Gene3D:1.10.238.10 MODERATE 1 SNV 5 1 PASS TGC . . 1.63e-05 8.938e-05 4.619e-05 152111812 EPHA3 . GRCh38 chr3 89210309 89210309 + Missense_Mutation SNP G G C rs775318326 7316-267 BS_251Z13NC G G c.603G>C p.Lys201Asn p.K201N ENST00000336596 3/17 80 44 34 33 33 0 EPHA3,missense_variant,p.Lys201Asn,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Lys201Asn,ENST00000494014,;EPHA3,missense_variant,p.Lys201Asn,ENST00000452448,NM_182644.2; C ENSG00000044524 ENST00000336596 Transcript missense_variant 828/5809 603/2952 201/983 K/N aaG/aaC rs775318326,COSM6941878,COSM6941877 1 1 EPHA3 HGNC HGNC:3387 protein_coding YES CCDS2922.1 ENSP00000337451 P29320 A0A140VJJ0 UPI0000163BE4 NM_005233.5 deleterious(0) probably_damaging(0.994) 3/17 cd10481,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,Superfamily_domains:SSF49785,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF18,PROSITE_patterns:PS00790 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS AGT . . 8.153e-06 6.512e-05 89210309 MUC17 . GRCh38 chr7 101035033 101035033 + Missense_Mutation SNP T T G rs878872088 7316-267 BS_251Z13NC T T c.3617T>G p.Val1206Gly p.V1206G ENST00000306151 3/13 154 138 9 53 52 0 MUC17,missense_variant,p.Val1206Gly,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Val1206Gly,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 3681/14247 3617/13482 1206/4493 V/G gTt/gGt rs878872088 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.69) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 4.103e-06 3.068e-05 101035033 PAX4 . GRCh38 chr7 127613060 127613060 + Missense_Mutation SNP C C T rs375472849 7316-267 BS_251Z13NC C C c.653G>A p.Arg218His p.R218H ENST00000341640 6/9 70 29 35 41 40 0 PAX4,missense_variant,p.Arg226His,ENST00000639438,;PAX4,missense_variant,p.Arg218His,ENST00000341640,NM_006193.2;PAX4,missense_variant,p.Arg216His,ENST00000463946,;PAX4,missense_variant,p.Arg216His,ENST00000611453,;PAX4,missense_variant,p.Arg226His,ENST00000378740,;PAX4,missense_variant,p.Arg226His,ENST00000338516,;PAX4,missense_variant,p.Arg216His,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,; T ENSG00000106331 ENST00000341640 Transcript missense_variant 859/2010 653/1032 218/343 R/H cGt/cAt rs375472849 1 -1 PAX4 HGNC HGNC:8618 protein_coding YES CCDS5797.1 ENSP00000339906 O43316 UPI000013C824 NM_006193.2 deleterious(0) probably_damaging(0.969) 6/9 Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF14,SMART_domains:SM00389,Superfamily_domains:SSF46689,cd00086 0.0001163 MODERATE 1 SNV 1 1 PASS ACG . . 3.655e-05 2.978e-05 0.0001739 3.58e-05 3.249e-05 127613060 BRAF . GRCh38 chr7 140753338 140753339 + In_Frame_Ins INS - - GTA rs727502902 7316-267 BS_251Z13NC - - c.1794_1796dup p.Thr599dup p.T599dup ENST00000646891 15/18 114 44 64 34 31 0 BRAF,inframe_insertion,p.Thr599dup,ENST00000496384,NM_001354609.1;BRAF,inframe_insertion,p.Thr599dup,ENST00000646891,NM_004333.4;BRAF,inframe_insertion,p.Thr639dup,ENST00000288602,;BRAF,inframe_insertion,p.Thr639dup,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,inframe_insertion,p.Thr298dup,ENST00000644650,;BRAF,inframe_insertion,p.Thr156dup,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; GTA ENSG00000157764 ENST00000646891 Transcript inframe_insertion 2021-2022/6458 1796-1797/2301 599/766 T/TT aca/acTACa rs727502902 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 pathogenic 24033266,19363522,19794125,21190184,21343559,21716161,22535154 MODERATE 1 insertion 1 1 PASS CTG . . 140753338 PRSS2 . GRCh38 chr7 142772193 142772193 + Missense_Mutation SNP G G C rs200815151 7316-267 BS_251Z13NC G G c.185G>C p.Gly62Ala p.G62A ENST00000633969 2/6 110 91 15 46 46 0 PRSS2,missense_variant,p.Gly62Ala,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Gly62Ala,ENST00000632998,;PRSS2,missense_variant,p.Gly62Ala,ENST00000632805,;PRSS2,missense_variant,p.Gly62Ala,ENST00000539842,NM_002770.3;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,; C ENSG00000275896 ENST00000633969 Transcript missense_variant 201/852 185/786 62/261 G/A gGt/gCt rs200815151 1 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9 UPI0001578AE2 NM_001303414.1 tolerated(1) benign(0) 2/6 Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_patterns:PS00134,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494,cd00190 MODERATE 1 SNV 1 1 PASS GGT . . 142772193 PRSS2 . GRCh38 chr7 142772209 142772209 + Splice_Site SNP G G A rs558768984 7316-267 BS_251Z13NC G G c.200+1G>A p.X67_splice ENST00000633969 106 85 17 48 48 0 PRSS2,splice_donor_variant,,ENST00000539842,NM_002770.3;PRSS2,splice_donor_variant,,ENST00000632805,;PRSS2,splice_donor_variant,,ENST00000632998,;PRSS2,splice_donor_variant,,ENST00000633969,NM_001303414.1;PRSS2,splice_donor_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,; A ENSG00000275896 ENST00000633969 Transcript splice_donor_variant rs558768984 1 1 PRSS2 HGNC HGNC:9483 protein_coding YES CCDS83235.1 ENSP00000488437 A6XMV9 UPI0001578AE2 NM_001303414.1 2/5 0.0002 0.001 HIGH 1 SNV 1 1 PASS CGT . . 142772209 SPATA31E1 . GRCh38 chr9 87882938 87882938 + Missense_Mutation SNP T T G rs577577000 7316-267 BS_251Z13NC T T c.47T>G p.Val16Gly p.V16G ENST00000325643 1/4 73 66 6 28 28 0 SPATA31E1,missense_variant,p.Val16Gly,ENST00000325643,NM_178828.4; G ENSG00000177992 ENST00000325643 Transcript missense_variant 113/4478 47/4338 16/1445 V/G gTt/gGt rs577577000,COSM5956726 1 1 SPATA31E1 HGNC HGNC:26672 protein_coding YES CCDS6676.1 ENSP00000322640 Q6ZUB1 UPI000036764A NM_178828.4 benign(0) 1/4 0,1 MODERATE 1 SNV 1 0,1 PASS GTT . . 0.00013 6.851e-05 0.0004359 0.0001224 4.507e-05 4.595e-05 0.0001916 0.0002364 87882938 NLRP6 . GRCh38 chr11 281041 281041 + Missense_Mutation SNP C C T novel 7316-267 BS_251Z13NC C C c.1307C>T p.Pro436Leu p.P436L ENST00000312165 4/8 81 75 5 43 43 0 NLRP6,missense_variant,p.Pro436Leu,ENST00000534750,NM_001276700.1;NLRP6,missense_variant,p.Pro436Leu,ENST00000312165,NM_138329.2;NLRP6,downstream_gene_variant,,ENST00000527946,;,regulatory_region_variant,,ENSR00000035592,; T ENSG00000174885 ENST00000312165 Transcript missense_variant 1307/2679 1307/2679 436/892 P/L cCc/cTc 1 1 NLRP6 HGNC HGNC:22944 protein_coding YES CCDS7693.1 ENSP00000309767 P59044 UPI00001AEFE1 NM_138329.2 tolerated(0.16) benign(0.254) 4/8 PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3 MODERATE 1 SNV 1 PASS CCC . . 281041 OR11G2 . GRCh38 chr14 20197696 20197696 + Missense_Mutation SNP G G T novel 7316-267 BS_251Z13NC G G c.361G>T p.Ala121Ser p.A121S ENST00000357366 1/1 66 53 10 34 33 0 OR11G2,missense_variant,p.Ala87Ser,ENST00000641879,;OR11G2,missense_variant,p.Ala87Ser,ENST00000641682,;OR11G2,missense_variant,p.Ala121Ser,ENST00000357366,NM_001005503.1; T ENSG00000196832 ENST00000357366 Transcript missense_variant 361/1038 361/1038 121/345 A/S Gcc/Tcc 1 1 OR11G2 HGNC HGNC:15346 protein_coding YES CCDS32032.1 ENSP00000349930 Q8NGC1 UPI000015F241 NM_001005503.1 deleterious(0.02) benign(0.058) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15913,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF183,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS GGC . . 20197696 SETD1A . GRCh38 chr16 30979270 30979270 + Missense_Mutation SNP A A C rs1471867242 7316-267 BS_251Z13NC A A c.3484A>C p.Lys1162Gln p.K1162Q ENST00000262519 14/19 43 32 5 27 24 0 SETD1A,missense_variant,p.Lys1162Gln,ENST00000262519,NM_014712.2;SETD1A,upstream_gene_variant,,ENST00000640410,;,regulatory_region_variant,,ENSR00000085275,; C ENSG00000099381 ENST00000262519 Transcript missense_variant 4170/6451 3484/5124 1162/1707 K/Q Aag/Cag rs1471867242 1 1 SETD1A HGNC HGNC:29010 protein_coding YES CCDS32435.1 ENSP00000262519 O15047 UPI00001C1FA9 NM_014712.2 deleterious_low_confidence(0.01) benign(0.067) 14/19 Gene3D:2.170.270.10,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAA . . 30979270 TEX13C . GRCh38 chrX 125321579 125321579 + Missense_Mutation SNP T T A rs1165602771 7316-267 BS_251Z13NC T T c.1460T>A p.Val487Glu p.V487E ENST00000632600 1/1 46 33 5 36 33 1 TEX13C,missense_variant,p.Val487Glu,ENST00000632600,NM_001195272.1; A ENSG00000282815 ENST00000632600 Transcript missense_variant 1460/5095 1460/2982 487/993 V/E gTg/gAg rs1165602771 1 1 TEX13C HGNC HGNC:52277 protein_coding YES CCDS83488.1 ENSP00000488022 A0A0J9YWL9 UPI000016014C NM_001195272.1 tolerated(0.7) benign(0) 1/1 hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF28 MODERATE 1 SNV PASS GTG . . 125321579 PRAMEF14 . GRCh38 chr1 13345274 13345274 + Missense_Mutation SNP C C A rs1396530971 7316-368 BS_HM2ZG2J7 C C c.41G>T p.Gly14Val p.G14V ENST00000334600 2/4 56 45 10 25 24 0 PRAMEF14,missense_variant,p.Gly14Val,ENST00000334600,NM_001024661.2;PRAMEF14,upstream_gene_variant,,ENST00000602491,; A ENSG00000204481 ENST00000334600 Transcript missense_variant 144/1690 41/1425 14/474 G/V gGg/gTg rs1396530971 1 -1 PRAMEF14 HGNC HGNC:13576 protein_coding YES CCDS76109.1 ENSP00000334410 A6NFR9 UPI000013DEF2 NM_001024661.2 tolerated(0.14) benign(0.003) 2/4 hmmpanther:PTHR14224:SF2,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286 MODERATE 1 SNV 5 PASS CCC . . 13345274 ZNF510 . GRCh38 chr9 96759287 96759287 + Missense_Mutation SNP A A G rs1477398510 7316-368 BS_HM2ZG2J7 A A c.1543T>C p.Ser515Pro p.S515P ENST00000375231 6/6 85 74 6 27 24 0 ZNF510,missense_variant,p.Ser515Pro,ENST00000375231,NM_001314059.1;ZNF510,missense_variant,p.Ser515Pro,ENST00000223428,NM_001314060.1,NM_014930.2;ZNF510,downstream_gene_variant,,ENST00000374641,;ZNF510,downstream_gene_variant,,ENST00000472201,; G ENSG00000081386 ENST00000375231 Transcript missense_variant 2194/5616 1543/2052 515/683 S/P Tcc/Ccc rs1477398510 1 -1 ZNF510 HGNC HGNC:29161 protein_coding YES CCDS35074.1 ENSP00000364379 Q9Y2H8 UPI0000139E9E NM_001314059.1 tolerated(1) benign(0.006) 6/6 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24392,hmmpanther:PTHR24392:SF21,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS GAT . . 96759287 PSPC1 . GRCh38 chr13 19703273 19703273 + Missense_Mutation SNP T T C rs3852596 7316-368 BS_HM2ZG2J7 T T c.1474A>G p.Met492Val p.M492V ENST00000338910 9/9 109 95 13 34 34 0 PSPC1,missense_variant,p.Met492Val,ENST00000338910,NM_001354909.1;PSPC1,missense_variant,p.Met492Val,ENST00000619300,NM_001042414.2;PSPC1,intron_variant,,ENST00000471658,;PSPC1,intron_variant,,ENST00000492741,;PSPC1,intron_variant,,ENST00000635562,; C ENSG00000121390 ENST00000338910 Transcript missense_variant 1634/2407 1474/1572 492/523 M/V Atg/Gtg rs3852596,COSM1606896 1 -1 PSPC1 HGNC HGNC:20320 protein_coding YES CCDS41870.1 ENSP00000343966 Q8WXF1 UPI000006F2BE NM_001354909.1 tolerated(0.34) benign(0.007) 9/9 mobidb-lite,hmmpanther:PTHR23189:SF14,hmmpanther:PTHR23189 0,1 27148585,27576531 MODERATE 1 SNV 1 0,1 PASS ATT . . 0.4697 0.3284 0.4789 0.4796 0.4963 0.4883 0.4752 0.4703 0.4723 19703273 ATXN3 . GRCh38 chr14 92083261 92083261 + Splice_Region DEL A A - rs146481848 7316-368 BS_HM2ZG2J7 A A c.476-3del ENST00000558190 107 90 8 47 44 0 ATXN3,splice_region_variant,,ENST00000620536,;ATXN3,splice_region_variant,,ENST00000621269,;ATXN3,splice_region_variant,,ENST00000340660,NM_030660.4;ATXN3,splice_region_variant,,ENST00000393287,NM_001127697.2;ATXN3,splice_region_variant,,ENST00000429774,NM_001164779.1,NM_001164781.1;ATXN3,splice_region_variant,,ENST00000502250,NM_001164780.1;ATXN3,splice_region_variant,,ENST00000503767,NM_001127696.1;ATXN3,splice_region_variant,,ENST00000506466,;ATXN3,splice_region_variant,,ENST00000532032,;ATXN3,splice_region_variant,,ENST00000545170,;ATXN3,splice_region_variant,,ENST00000553491,;ATXN3,splice_region_variant,,ENST00000554592,;ATXN3,splice_region_variant,,ENST00000554672,;ATXN3,splice_region_variant,,ENST00000555381,;ATXN3,splice_region_variant,,ENST00000556220,;ATXN3,splice_region_variant,,ENST00000557311,;ATXN3,splice_region_variant,,ENST00000558190,NM_001164778.1,NM_004993.5;ATXN3,splice_region_variant,,ENST00000617719,;ATXN3,splice_region_variant,,ENST00000644486,;ATXN3,intron_variant,,ENST00000526872,;ATXN3,splice_region_variant,,ENST00000553287,;ATXN3,splice_region_variant,,ENST00000553309,;ATXN3,splice_region_variant,,ENST00000553498,;ATXN3,splice_region_variant,,ENST00000553686,;ATXN3,splice_region_variant,,ENST00000554040,;ATXN3,splice_region_variant,,ENST00000554214,;ATXN3,splice_region_variant,,ENST00000554491,;ATXN3,splice_region_variant,,ENST00000555958,;ATXN3,intron_variant,,ENST00000556339,;ATXN3,intron_variant,,ENST00000556644,;ATXN3,splice_region_variant,,ENST00000359366,;ATXN3,splice_region_variant,,ENST00000515746,;ATXN3,splice_region_variant,,ENST00000553488,;ATXN3,splice_region_variant,,ENST00000553570,;ATXN3,splice_region_variant,,ENST00000554350,;ATXN3,splice_region_variant,,ENST00000554673,;ATXN3,splice_region_variant,,ENST00000554994,;ATXN3,splice_region_variant,,ENST00000555816,;ATXN3,splice_region_variant,,ENST00000556082,;ATXN3,splice_region_variant,,ENST00000556315,;ATXN3,splice_region_variant,,ENST00000556374,;ATXN3,splice_region_variant,,ENST00000556958,;ATXN3,splice_region_variant,,ENST00000557030,;ATXN3,splice_region_variant,,ENST00000646485,;ATXN3,splice_region_variant,,ENST00000647161,;ATXN3,intron_variant,,ENST00000556274,;ATXN3,intron_variant,,ENST00000556288,;ATXN3,intron_variant,,ENST00000556671,;ATXN3,intron_variant,,ENST00000556898,; - ENSG00000066427 ENST00000558190 Transcript splice_region_variant,intron_variant rs146481848,COSM5658224,COSM5658223,COSM1580342 1 -1 ATXN3 HGNC HGNC:7106 protein_coding YES CCDS9900.1 ENSP00000478320 P54252 UPI000013D23A NM_001164778.1,NM_004993.5 6/10 0,1,1,1 LOW 1 deletion 1 0,1,1,1 1 PASS CTAA . . 0.02208 0.01164 0.03548 0.03196 0.01654 0.0218 0.02056 0.0267 0.02403 92083260 ERN1 . GRCh38 chr17 64055863 64055863 + Missense_Mutation SNP T T A novel 7316-368 BS_HM2ZG2J7 T T c.1484A>T p.Gln495Leu p.Q495L ENST00000433197 13/22 78 73 5 33 33 0 ERN1,missense_variant,p.Gln495Leu,ENST00000433197,NM_001433.3;ERN1,upstream_gene_variant,,ENST00000583077,;ERN1,downstream_gene_variant,,ENST00000583896,; A ENSG00000178607 ENST00000433197 Transcript missense_variant 1580/7876 1484/2934 495/977 Q/L cAg/cTg 1 -1 ERN1 HGNC HGNC:3449 protein_coding YES CCDS45762.1 ENSP00000401445 O75460 UPI0000201263 NM_001433.3 tolerated(0.43) benign(0.012) 13/22 Gene3D:3.30.200.20,hmmpanther:PTHR13954,hmmpanther:PTHR13954:SF17,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTG . . 64055863 MAGEC1 . GRCh38 chrX 141906534 141906534 + Missense_Mutation SNP G G T rs7063168 7316-368 BS_HM2ZG2J7 G G c.1130G>T p.Gly377Val p.G377V ENST00000285879 4/4 42 30 9 11 11 0 MAGEC1,missense_variant,p.Gly377Val,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; T ENSG00000155495 ENST00000285879 Transcript missense_variant 1416/4270 1130/3429 377/1142 G/V gGg/gTg rs7063168,COSM4600089 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(0.33) benign(0) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 0.0305 0.0728 0.0229 0.0105 0.0209 0.0084 0,1 MODERATE 1 SNV 1 0,1 PASS GGG . . 0.009643 0.08491 0.008775 0.003692 0.01256 0.0008155 0.003607 0.01125 0.004013 141906534 ODF2L . GRCh38 chr1 86376421 86376421 + Splice_Region DEL A A - rs538815359 7316-344 BS_4T3BZ2F6 A A c.625-3del ENST00000359242 64 54 5 28 26 0 ODF2L,splice_region_variant,,ENST00000294678,NM_020729.2;ODF2L,splice_region_variant,,ENST00000317336,NM_001007022.2;ODF2L,splice_region_variant,,ENST00000359242,;ODF2L,splice_region_variant,,ENST00000370566,NM_001184765.1,NM_001184766.1;ODF2L,splice_region_variant,,ENST00000460698,;ODF2L,splice_region_variant,,ENST00000479890,;ODF2L,upstream_gene_variant,,ENST00000524695,;ODF2L,splice_region_variant,,ENST00000472368,;ODF2L,splice_region_variant,,ENST00000488879,;ODF2L,splice_region_variant,,ENST00000496592,;ODF2L,upstream_gene_variant,,ENST00000486557,; - ENSG00000122417 ENST00000359242 Transcript splice_region_variant,intron_variant rs538815359,TMP_ESP_1_86842104_86842104,COSM4772793,COSM4772792,COSM4772791 1 -1 ODF2L HGNC HGNC:29225 protein_coding YES CCDS41354.2 ENSP00000359600 Q9ULJ1 UPI00001C1D6A 7/17 0.03684 0.02025 0,0,1,1,1 LOW 1 deletion 1 0,0,1,1,1 PASS CTAA . . 0.02644 0.04638 0.02365 0.0315 0.003163 0.03513 0.02167 0.02557 0.0421 86376420 TCHH . GRCh38 chr1 152111880 152111880 + Missense_Mutation SNP C C A 7316-344 BS_4T3BZ2F6 C C c.1337G>T p.Arg446Leu p.R446L ENST00000614923 3/3 63 45 9 23 21 0 TCHH,missense_variant,p.Arg446Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg446Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 1432/6995 1337/5832 446/1943 R/L cGg/cTg COSM5956933 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 benign(0.4) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855,Gene3D:1.10.238.10 1 MODERATE 1 SNV 5 1 1 PASS CCG . . 152111880 RPTN . GRCh38 chr1 152155902 152155902 + Missense_Mutation SNP T T A 7316-344 BS_4T3BZ2F6 T T c.1197A>T p.Gln399His p.Q399H ENST00000316073 3/3 49 30 9 21 20 1 RPTN,missense_variant,p.Gln399His,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; A ENSG00000215853 ENST00000316073 Transcript missense_variant 1262/3569 1197/2355 399/784 Q/H caA/caT COSM2184372 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 deleterious(0) benign(0.013) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 1 MODERATE 1 SNV 1 1 PASS TTT . . 152155902 ZNF648 . GRCh38 chr1 182056768 182056768 + Missense_Mutation SNP A A T rs1234475620 7316-344 BS_4T3BZ2F6 A A c.1243T>A p.Ser415Thr p.S415T ENST00000339948 2/2 79 71 7 45 43 0 ZNF648,missense_variant,p.Ser415Thr,ENST00000339948,NM_001009992.1;,regulatory_region_variant,,ENSR00000016664,; T ENSG00000179930 ENST00000339948 Transcript missense_variant 1451/3649 1243/1707 415/568 S/T Tcg/Acg rs1234475620,COSM6209606 1 -1 ZNF648 HGNC HGNC:18190 protein_coding YES CCDS30952.1 ENSP00000344129 Q5T619 UPI0000161414 NM_001009992.1 tolerated(0.62) benign(0.02) 2/2 PROSITE_profiles:PS50157,hmmpanther:PTHR45320,Gene3D:2.40.155.10,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 182056768 CFH . GRCh38 chr1 196743447 196743447 + Splice_Region SNP T T C rs513699 7316-344 BS_4T3BZ2F6 T T c.3134-5T>C ENST00000367429 79 67 12 29 29 0 CFH,splice_region_variant,,ENST00000367429,NM_000186.3;CFH,splice_region_variant,,ENST00000466229,;CFH,downstream_gene_variant,,ENST00000470918,;,regulatory_region_variant,,ENSR00000256019,; C ENSG00000000971 ENST00000367429 Transcript splice_region_variant,intron_variant rs513699,COSM3997120 1 1 CFH HGNC HGNC:4883 protein_coding YES CCDS1385.1 ENSP00000356399 P08603 A0A024R962 UPI000013C4D1 NM_000186.3 19/21 0,1 LOW 1 SNV 1 0,1 1 PASS ATT . . 0.04499 0.03081 0.06736 0.03582 0.1127 0.06709 0.03888 0.03495 0.01752 196743447 GBX2 . GRCh38 chr2 236167724 236167724 + Missense_Mutation SNP A A C novel 7316-344 BS_4T3BZ2F6 A A c.248T>G p.Ile83Ser p.I83S ENST00000306318 1/2 53 47 5 24 24 0 GBX2,missense_variant,p.Ile83Ser,ENST00000306318,NM_001485.3;GBX2,missense_variant,p.Ile83Ser,ENST00000551105,NM_001301687.1;AC019068.1,intron_variant,,ENST00000415226,;AC019068.1,intron_variant,,ENST00000483218,;GBX2,upstream_gene_variant,,ENST00000465889,;,regulatory_region_variant,,ENSR00000132442,; C ENSG00000168505 ENST00000306318 Transcript missense_variant 646/2123 248/1047 83/348 I/S aTc/aGc 1 -1 GBX2 HGNC HGNC:4186 protein_coding YES CCDS2515.1 ENSP00000302251 P52951 UPI000012B273 NM_001485.3 tolerated(0.05) benign(0.024) 1/2 hmmpanther:PTHR24334,hmmpanther:PTHR24334:SF3 MODERATE 1 SNV 1 PASS GAT . . 236167724 MUC4 . GRCh38 chr3 195786548 195786548 + Missense_Mutation SNP C C T rs370273377 7316-344 BS_4T3BZ2F6 C C c.5032G>A p.Ala1678Thr p.A1678T ENST00000463781 2/25 67 48 8 36 34 0 MUC4,missense_variant,p.Ala1678Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala1678Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala1678Thr,ENST00000478156,;MUC4,missense_variant,p.Ala1678Thr,ENST00000466475,;MUC4,missense_variant,p.Ala1678Thr,ENST00000477756,;MUC4,missense_variant,p.Ala1678Thr,ENST00000477086,;MUC4,missense_variant,p.Ala1678Thr,ENST00000480843,;MUC4,missense_variant,p.Ala1678Thr,ENST00000462323,;MUC4,missense_variant,p.Ala1678Thr,ENST00000470451,;MUC4,missense_variant,p.Ala1678Thr,ENST00000479406,;,regulatory_region_variant,,ENSR00000308219,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 5492/17110 5032/16239 1678/5412 A/T Gcc/Acc rs370273377 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.45) possibly_damaging(0.494) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0.0004 0.0014 0.001 MODERATE 1 SNV 5 1 PASS GCG . . 8.597e-05 0.0001298 8.527e-05 0.0001981 8.565e-05 0.0005099 4.44e-05 195786548 PRDM9 . GRCh38 chr5 23526806 23526806 + Missense_Mutation SNP T T C rs199686868 7316-344 BS_4T3BZ2F6 T T c.1718T>C p.Ile573Thr p.I573T ENST00000296682 11/11 76 56 7 23 20 0 PRDM9,missense_variant,p.Ile573Thr,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,;,regulatory_region_variant,,ENSR00000314203,; C ENSG00000164256 ENST00000296682 Transcript missense_variant 1900/3691 1718/2685 573/894 I/T aTa/aCa rs199686868,COSM4006007,COSM3013837 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(1) benign(0.001) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ATA . . 0.0001021 0.0003594 0.0001974 0.0003581 7.196e-05 3.869e-05 23526806 BDP1 . GRCh38 chr5 71510039 71510039 + Missense_Mutation SNP A A T novel 7316-344 BS_4T3BZ2F6 A A c.2947A>T p.Asn983Tyr p.N983Y ENST00000358731 17/39 61 44 7 23 23 0 BDP1,missense_variant,p.Asn983Tyr,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,; T ENSG00000145734 ENST00000358731 Transcript missense_variant 3210/11073 2947/7875 983/2624 N/Y Aat/Tat 1 1 BDP1 HGNC HGNC:13652 protein_coding YES CCDS43328.1 ENSP00000351575 A6H8Y1 UPI000020CA90 NM_018429.2 deleterious(0) benign(0.24) 17/39 mobidb-lite,hmmpanther:PTHR22929 MODERATE 1 SNV 1 1 PASS AAA . . 71510039 MUC21 . GRCh38 chr6 30986321 30986321 + Missense_Mutation SNP G G A rs201803580 7316-344 BS_4T3BZ2F6 G G c.146G>A p.Gly49Glu p.G49E ENST00000376296 2/3 89 70 11 26 25 0 MUC21,missense_variant,p.Gly49Glu,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,; A ENSG00000204544 ENST00000376296 Transcript missense_variant 387/3651 146/1701 49/566 G/E gGg/gAg rs201803580 1 1 MUC21 HGNC HGNC:21661 protein_coding YES CCDS34388.1 ENSP00000365473 Q5SSG8 UPI000047030C NM_001010909.3 tolerated_low_confidence(0.11) benign(0.003) 2/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR39408,Pfam_domain:PF05647 MODERATE 1 SNV 1 PASS GGG . . 6.246e-05 8.718e-05 0.0002685 4.08e-05 0.0004537 0.000115 30986321 MUC22 . GRCh38 chr6 31029462 31029462 + Missense_Mutation SNP G G T novel 7316-344 BS_4T3BZ2F6 G G c.4031G>T p.Gly1344Val p.G1344V ENST00000561890 2/4 72 41 16 34 31 2 MUC22,missense_variant,p.Gly1344Val,ENST00000561890,NM_001198815.1,NM_001318484.1; T ENSG00000261272 ENST00000561890 Transcript missense_variant 4264/6019 4031/5322 1344/1773 G/V gGg/gTg 1 1 MUC22 HGNC HGNC:39755 protein_coding YES CCDS59003.1 ENSP00000455906 E2RYF6 UPI0001E92A31 NM_001198815.1,NM_001318484.1 tolerated(0.23) unknown(0) 2/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR37000 MODERATE 1 SNV 2 PASS GGG . . 31029462 WIPF3 . GRCh38 chr7 29884002 29884002 + Missense_Mutation SNP A A C rs1443686419 7316-344 BS_4T3BZ2F6 A A c.508A>C p.Asn170His p.N170H ENST00000242140 5/9 75 58 16 19 17 1 WIPF3,missense_variant,p.Asn170His,ENST00000242140,NM_001080529.2;WIPF3,missense_variant,p.Asn170His,ENST00000409290,;WIPF3,missense_variant,p.Asn170His,ENST00000409123,;,regulatory_region_variant,,ENSR00000210284,; C ENSG00000122574 ENST00000242140 Transcript missense_variant 690/4184 508/1452 170/483 N/H Aac/Cac rs1443686419 1 1 WIPF3 HGNC HGNC:22004 protein_coding YES CCDS56472.1 ENSP00000242140 A6NGB9 UPI00006C0B79 NM_001080529.2 deleterious_low_confidence(0.04) benign(0.205) 5/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF31 MODERATE 1 SNV 5 PASS CAA . . 0.0002497 0.0008441 0.0002023 9.726e-05 9.25e-05 0.0003318 29884002 PTPN12 . GRCh38 chr7 77618504 77618504 + Missense_Mutation SNP G G A rs9640663 7316-344 BS_4T3BZ2F6 G G c.964G>A p.Val322Ile p.V322I ENST00000248594 12/18 76 23 53 28 23 5 PTPN12,missense_variant,p.Val322Ile,ENST00000248594,NM_002835.3;PTPN12,missense_variant,p.Val192Ile,ENST00000435495,NM_001131009.1;PTPN12,missense_variant,p.Val203Ile,ENST00000415482,NM_001131008.1; A ENSG00000127947 ENST00000248594 Transcript missense_variant 1236/3406 964/2343 322/780 V/I Gtc/Atc rs9640663,COSM1568868 1 1 PTPN12 HGNC HGNC:9645 protein_coding YES CCDS5592.1 ENSP00000248594 Q05209 UPI000013CC4C NM_002835.3 tolerated(0.23) benign(0.001) 12/18 PIRSF_domain:PIRSF000932,hmmpanther:PTHR19134:SF283,hmmpanther:PTHR19134 0.7873 0.8729 0.7695 0.9048 0.6252 0.7301 0.8268 0.5871 0,1 22655260,16764945 MODERATE 1 SNV 1 0,1 PASS GGT . . 0.6719 0.8307 0.8152 0.6794 0.8983 0.565 0.59 0.6651 0.6872 77618504 SPATA31E1 . GRCh38 chr9 87882926 87882926 + Missense_Mutation SNP G G A 7316-344 BS_4T3BZ2F6 G G c.35G>A p.Arg12Lys p.R12K ENST00000325643 1/4 100 88 9 44 43 0 SPATA31E1,missense_variant,p.Arg12Lys,ENST00000325643,NM_178828.4; A ENSG00000177992 ENST00000325643 Transcript missense_variant 101/4478 35/4338 12/1445 R/K aGg/aAg COSM6212017 1 1 SPATA31E1 HGNC HGNC:26672 protein_coding YES CCDS6676.1 ENSP00000322640 Q6ZUB1 UPI000036764A NM_178828.4 possibly_damaging(0.567) 1/4 1 MODERATE 1 SNV 1 1 PASS AGG . . 87882926 WASHC2A . GRCh38 chr10 50068136 50068136 + Missense_Mutation SNP C C T rs11552619 7316-344 BS_4T3BZ2F6 C C c.35C>T p.Ala12Val p.A12V ENST00000282633 2/31 44 32 12 17 17 0 WASHC2A,missense_variant,p.Ala12Val,ENST00000351071,NM_001291398.1;WASHC2A,missense_variant,p.Ala12Val,ENST00000611324,;WASHC2A,missense_variant,p.Ala12Val,ENST00000314664,NM_001330102.1;WASHC2A,missense_variant,p.Ala12Val,ENST00000282633,NM_001005751.2;FAM21EP,upstream_gene_variant,,ENST00000456967,;WASHC2A,upstream_gene_variant,,ENST00000492914,;WASHC2A,missense_variant,p.Ala12Val,ENST00000434114,;,regulatory_region_variant,,ENSR00000027945,;FAM21EP,upstream_gene_variant,,ENST00000417804,; T ENSG00000099290 ENST00000282633 Transcript missense_variant 80/4272 35/4026 12/1341 A/V gCg/gTg rs11552619,COSM2146118 1 1 WASHC2A HGNC HGNC:23416 protein_coding YES CCDS41527.1 ENSP00000282633 Q641Q2 UPI000044FEAB NM_001005751.2 deleterious_low_confidence(0.04) benign(0.003) 2/31 hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF24 0.0020 0.0053 0.001 0.002 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 0.002453 0.006111 0.00337 0.002005 0.0002344 0.002275 0.002235 0.002818 0.002123 50068136 MUC5AC . GRCh38 chr11 1187375 1187375 + Missense_Mutation SNP C C T rs796350527 7316-344 BS_4T3BZ2F6 C C c.9230C>T p.Thr3077Ile p.T3077I ENST00000621226 31/49 70 55 5 25 21 0 MUC5AC,missense_variant,p.Thr3077Ile,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; T ENSG00000215182 ENST00000621226 Transcript missense_variant 9277/17448 9230/16965 3077/5654 T/I aCc/aTc rs796350527 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 deleterious(0.03) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ACC . . 1187375 MUC5AC . GRCh38 chr11 1189301 1189301 + Missense_Mutation SNP C C G rs1388322920 7316-344 BS_4T3BZ2F6 C C c.11156C>G p.Thr3719Ser p.T3719S ENST00000621226 31/49 95 75 14 23 21 0 MUC5AC,missense_variant,p.Thr3719Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; G ENSG00000215182 ENST00000621226 Transcript missense_variant 11203/17448 11156/16965 3719/5654 T/S aCc/aGc rs1388322920 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.84) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ACC . . 1189301 SART1 . GRCh38 chr11 65961954 65961954 + Missense_Mutation SNP A A C novel 7316-344 BS_4T3BZ2F6 A A c.174A>C p.Glu58Asp p.E58D ENST00000312397 1/20 104 84 13 28 24 2 SART1,missense_variant,p.Glu58Asp,ENST00000312397,NM_005146.4;TSGA10IP,downstream_gene_variant,,ENST00000532620,NM_152762.2;SART1,non_coding_transcript_exon_variant,,ENST00000528573,;SART1,missense_variant,p.Glu58Asp,ENST00000530251,;SART1,non_coding_transcript_exon_variant,,ENST00000529532,;SART1,non_coding_transcript_exon_variant,,ENST00000532333,;TSGA10IP,downstream_gene_variant,,ENST00000534740,;TSGA10IP,downstream_gene_variant,,ENST00000608857,;,regulatory_region_variant,,ENSR00000040915,; C ENSG00000175467 ENST00000312397 Transcript missense_variant 266/3293 174/2403 58/800 E/D gaA/gaC 1 1 SART1 HGNC HGNC:10538 protein_coding YES CCDS31611.1 ENSP00000310448 O43290 UPI00000732D5 NM_005146.4 tolerated_low_confidence(0.42) possibly_damaging(0.899) 1/20 PDB-ENSP_mappings:5o9z.P,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 65961954 ARPC3 . GRCh38 chr12 110436687 110436688 + Splice_Region INS - - A rs142271368 7316-344 BS_4T3BZ2F6 - - c.253-5dup ENST00000228825 51 36 8 18 15 0 ARPC3,splice_region_variant,,ENST00000228825,NM_001287222.1,NM_001278556.1;ARPC3,splice_region_variant,,ENST00000426440,;ARPC3,splice_region_variant,,ENST00000547365,;ARPC3,splice_region_variant,,ENST00000467622,;ARPC3,splice_region_variant,,ENST00000476566,;AC144548.1,intron_variant,,ENST00000550231,;ARPC3,downstream_gene_variant,,ENST00000548878,; A ENSG00000111229 ENST00000228825 Transcript splice_region_variant,intron_variant rs142271368 1 -1 ARPC3 HGNC HGNC:706 protein_coding YES CCDS9146.1 ENSP00000228825 O15145 UPI00001120BE NM_001287222.1,NM_001278556.1 4/6 LOW 1 insertion 1 PASS GGA . . 0.02143 0.0898 0.02611 0.02348 0.005287 0.01943 0.01311 0.02616 0.02928 110436687 AC073578.2 . GRCh38 chr12 131447856 131447857 + Splice_Region INS - - CC rs141433734 7316-344 BS_4T3BZ2F6 - - n.268+4_268+5dup ENST00000618927 90 81 5 38 38 0 AC073578.2,splice_region_variant,,ENST00000618927,; CC ENSG00000275232 ENST00000618927 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs141433734 1 -1 AC073578.2 Clone_based_ensembl_gene lincRNA YES 4/4 LOW 1 insertion 4 PASS CAC . . 131447856 NPAP1 . GRCh38 chr15 24677915 24677915 + Missense_Mutation SNP A A G rs34938903 7316-344 BS_4T3BZ2F6 A A c.2048A>G p.Asn683Ser p.N683S ENST00000329468 1/1 60 50 8 22 21 0 NPAP1,missense_variant,p.Asn683Ser,ENST00000329468,NM_018958.2; G ENSG00000185823 ENST00000329468 Transcript missense_variant 2048/7526 2048/3471 683/1156 N/S aAc/aGc rs34938903,COSM6212008 1 1 NPAP1 HGNC HGNC:1190 protein_coding YES CCDS10015.1 ENSP00000333735 Q9NZP6 UPI00001AFA1B NM_018958.2 tolerated(0.37) benign(0.017) 1/1 hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,mobidb-lite 0.0064 0.0234 0.0014 0.02111 0,1 MODERATE 1 SNV 0,1 1 PASS AAC . . 0.001333 0.01904 0.000834 5.377e-05 0.0005474 24677915 NPIPB2 . GRCh38 chr16 11927480 11927480 + Missense_Mutation SNP G G A rs565838037 7316-344 BS_4T3BZ2F6 G G c.1087C>T p.Pro363Ser p.P363S ENST00000399147 8/8 57 38 16 27 23 1 NPIPB2,missense_variant,p.Pro363Ser,ENST00000399147,;NPIPB2,downstream_gene_variant,,ENST00000538896,;NPIPB2,downstream_gene_variant,,ENST00000547494,;NPIPB2,downstream_gene_variant,,ENST00000620285,;NPIPB2,downstream_gene_variant,,ENST00000356023,;NPIPB2,downstream_gene_variant,,ENST00000540412,;AC007216.5,downstream_gene_variant,,ENST00000612457,; A ENSG00000234719 ENST00000399147 Transcript missense_variant 1087/1194 1087/1194 363/397 P/S Cca/Tca rs565838037,COSM5424618,COSM5424617,COSM4879857,COSM4879856 1 -1 NPIPB2 HGNC HGNC:37451 protein_coding YES ENSP00000382101 A6NJ64 A0A0A6YYH2 UPI000204A8FF tolerated_low_confidence(1) benign(0.01) 8/8 hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF5,mobidb-lite 0,1,1,1,1 MODERATE 1 SNV 5 0,1,1,1,1 PASS GGT . . 2.593e-05 0.0002561 8.875e-05 11927480 ZNF708 . GRCh38 chr19 21294034 21294034 + Missense_Mutation SNP C C T rs1317568485 7316-344 BS_4T3BZ2F6 C C c.932G>A p.Gly311Glu p.G311E ENST00000356929 4/4 68 49 8 22 22 0 ZNF708,missense_variant,p.Gly311Glu,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000601295,NM_001297561.1,NM_001297560.1;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,; T ENSG00000182141 ENST00000356929 Transcript missense_variant 1130/4004 932/1692 311/563 G/E gGa/gAa rs1317568485,COSM394680 1 -1 ZNF708 HGNC HGNC:12945 protein_coding YES CCDS32980.1 ENSP00000349401 P17019 UPI000041F9DE NM_021269.2 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384:SF127,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TCC . . 21294034 ZNF99 . GRCh38 chr19 22757542 22757542 + Nonsense_Mutation SNP A A T 7316-344 BS_4T3BZ2F6 A A c.2367T>A p.Tyr789Ter p.Y789* ENST00000596209 4/4 54 40 5 21 20 0 ZNF99,stop_gained,p.Tyr789Ter,ENST00000596209,NM_001080409.2;ZNF99,stop_gained,p.Tyr698Ter,ENST00000397104,; T ENSG00000213973 ENST00000596209 Transcript stop_gained 2458/7817 2367/2595 789/864 Y/* taT/taA COSM3932981 1 -1 ZNF99 HGNC HGNC:13175 protein_coding YES CCDS59369.1 ENSP00000472969 A8MXY4 UPI0000426011 NM_001080409.2 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF114,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1 HIGH 1 SNV 5 1 PASS TAT . . 22757542 ZNF254 . GRCh38 chr19 24127407 24127407 + Missense_Mutation SNP G G T novel 7316-344 BS_4T3BZ2F6 G G c.1407G>T p.Lys469Asn p.K469N ENST00000357002 4/4 68 49 11 21 20 0 ZNF254,missense_variant,p.Lys428Asn,ENST00000613065,NM_001278662.1,NM_001278677.1,NM_001278661.1;ZNF254,missense_variant,p.Lys396Asn,ENST00000611359,NM_001278664.1;ZNF254,missense_variant,p.Lys469Asn,ENST00000357002,NM_203282.3;ZNF254,missense_variant,p.Lys384Asn,ENST00000616028,NM_001278678.1,NM_001278663.1;ZNF254,downstream_gene_variant,,ENST00000594886,;ZNF254,downstream_gene_variant,,ENST00000595187,; T ENSG00000213096 ENST00000357002 Transcript missense_variant 1522/3967 1407/1980 469/659 K/N aaG/aaT 1 1 ZNF254 HGNC HGNC:13047 protein_coding YES CCDS32983.1 ENSP00000349494 O75437 UPI0000366DB6 NM_203282.3 deleterious(0.01) probably_damaging(0.998) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGG . . 24127407 ZNF765 . GRCh38 chr19 53408947 53408947 + Missense_Mutation SNP T T A rs1414287714 7316-344 BS_4T3BZ2F6 T T c.1392T>A p.Asn464Lys p.N464K ENST00000396408 4/4 65 55 9 27 27 0 ZNF765,missense_variant,p.Asn464Lys,ENST00000396408,NM_001040185.1,NM_001350495.1;ZNF765,intron_variant,,ENST00000594030,;ZNF765,downstream_gene_variant,,ENST00000505866,;ZNF765,intron_variant,,ENST00000504146,;ZNF765,intron_variant,,ENST00000504235,;ZNF765,intron_variant,,ENST00000507045,;RPL39P36,upstream_gene_variant,,ENST00000490784,; A ENSG00000196417 ENST00000396408 Transcript missense_variant 1509/4569 1392/1572 464/523 N/K aaT/aaA rs1414287714,COSM6336432 1 1 ZNF765 HGNC HGNC:25092 protein_coding YES CCDS46171.1 ENSP00000379689 Q7L2R6 UPI000040C508 NM_001040185.1,NM_001350495.1 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF644,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS ATC . . 53408947 MX1 . GRCh38 chr21 41452874 41452874 + Splice_Region SNP G G A rs111623747 7316-344 BS_4T3BZ2F6 G G c.1758+5G>A ENST00000398600 58 40 17 28 28 0 MX1,splice_region_variant,,ENST00000288383,;MX1,splice_region_variant,,ENST00000398598,NM_002462.4;MX1,splice_region_variant,,ENST00000398600,NM_001144925.2;MX1,splice_region_variant,,ENST00000455164,NM_001178046.2;MX1,intron_variant,,ENST00000619682,NM_001282920.1;MX1,downstream_gene_variant,,ENST00000486275,;MX1,downstream_gene_variant,,ENST00000491110,; A ENSG00000157601 ENST00000398600 Transcript splice_region_variant,intron_variant rs111623747 1 1 MX1 HGNC HGNC:7532 protein_coding YES CCDS13673.1 ENSP00000381601 P20591 UPI0000206F16 NM_001144925.2 18/18 0.0004 0.002 0.0002326 LOW 1 SNV 2 PASS CGT . . 2.85e-05 6.537e-05 2.694e-05 9.766e-05 41452874 TUBGCP6 . GRCh38 chr22 50220650 50220650 + Missense_Mutation SNP A A G rs878875241 7316-344 BS_4T3BZ2F6 A A c.3709T>C p.Ser1237Pro p.S1237P ENST00000248846 16/25 79 56 6 41 39 0 TUBGCP6,missense_variant,p.Ser1237Pro,ENST00000439308,;TUBGCP6,missense_variant,p.Ser1237Pro,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; G ENSG00000128159 ENST00000248846 Transcript missense_variant 3814/5612 3709/5460 1237/1819 S/P Tca/Cca rs878875241 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 tolerated(1) benign(0) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 MODERATE 1 SNV 1 1 PASS GAC . . 8.417e-06 1.826e-05 50220650 SHANK3 . GRCh38 chr22 50675064 50675064 + Missense_Mutation SNP A A G novel 7316-344 BS_4T3BZ2F6 A A c.80A>G p.Asp27Gly p.D27G ENST00000262795 2/25 67 57 5 35 35 0 SHANK3,missense_variant,p.Asp27Gly,ENST00000262795,;SHANK3,missense_variant,p.Asp27Gly,ENST00000445220,NM_033517.1;SHANK3,non_coding_transcript_exon_variant,,ENST00000414786,;,regulatory_region_variant,,ENSR00000147754,; G ENSG00000251322 ENST00000262795 Transcript missense_variant 80/7091 80/5193 27/1730 D/G gAc/gGc 1 1 SHANK3 HGNC HGNC:14294 protein_coding YES ENSP00000489147 A0A0U1RQS4 UPI00071AFB18 deleterious(0.02) benign(0.258) 2/25 Gene3D:3.10.20.90,Pfam_domain:PF16511,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF4 MODERATE 1 SNV 5 1 PASS GAC . . 50675064 CNKSR2 . GRCh38 chrX 21609560 21609562 + In_Frame_Del DEL GAG GAG - rs778488952 7316-344 BS_4T3BZ2F6 GAG GAG c.2655_2657del p.Glu886del p.E886del ENST00000379510 20/22 62 43 6 28 22 0 CNKSR2,inframe_deletion,p.Glu807del,ENST00000645791,;CNKSR2,inframe_deletion,p.Glu579del,ENST00000642501,;CNKSR2,inframe_deletion,p.Glu856del,ENST00000425654,NM_001168647.1;CNKSR2,inframe_deletion,p.Glu886del,ENST00000379510,NM_014927.3;CNKSR2,inframe_deletion,p.Glu837del,ENST00000644585,NM_001330770.1;CNKSR2,inframe_deletion,p.Glu886del,ENST00000642359,NM_001168648.1;CNKSR2,inframe_deletion,p.Glu861del,ENST00000644295,;CNKSR2,inframe_deletion,p.Glu807del,ENST00000645245,;CNKSR2,inframe_deletion,p.Glu856del,ENST00000279451,NM_001330773.1;CNKSR2,inframe_deletion,p.Glu837del,ENST00000543067,NM_001168649.1;CNKSR2,inframe_deletion,p.Glu803del,ENST00000643220,;CNKSR2,inframe_deletion,p.Glu669del,ENST00000645074,;CNKSR2,inframe_deletion,p.Glu604del,ENST00000643313,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000642853,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000646690,;CNKSR2,inframe_deletion,p.Glu837del,ENST00000644095,;CNKSR2,3_prime_UTR_variant,,ENST00000646697,;CNKSR2,3_prime_UTR_variant,,ENST00000643156,;CNKSR2,3_prime_UTR_variant,,ENST00000643171,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000647532,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000644075,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000647058,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000647349,;CNKSR2,non_coding_transcript_exon_variant,,ENST00000645539,; - ENSG00000149970 ENST00000379510 Transcript inframe_deletion 2914-2916/5415 2635-2637/3105 879/1034 E/- GAG/- rs778488952,TMP_ESP_X_21627678_21627683,COSM5082983,COSM1745083 1 1 CNKSR2 HGNC HGNC:19701 protein_coding YES CCDS14198.1 ENSP00000368824 Q8WXI2 UPI0000070D72 NM_014927.3 20/22 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12844:SF21,hmmpanther:PTHR12844 0.03551 0.04641 0,0,1,1 MODERATE 1 deletion 1 20 0,0,1,1 1 PASS AAGAGG . . 0.001981 0.0014 0.001916 0.003035 0.0008415 0.007152 0.001298 0.002602 0.00119 21609559 GCNA . GRCh38 chrX 71604160 71604160 + Missense_Mutation SNP T T C rs761086272 7316-344 BS_4T3BZ2F6 T T c.883T>C p.Ser295Pro p.S295P ENST00000373695 7/12 51 32 9 17 17 0 GCNA,missense_variant,p.Ser295Pro,ENST00000373695,;GCNA,missense_variant,p.Ser295Pro,ENST00000373696,NM_052957.4;GCNA,upstream_gene_variant,,ENST00000471950,; C ENSG00000147174 ENST00000373695 Transcript missense_variant 1420/3213 883/2076 295/691 S/P Tcc/Ccc rs761086272,COSM1570044 1 1 GCNA HGNC HGNC:15805 protein_coding YES CCDS35326.1 ENSP00000362799 Q96QF7 UPI0000072023 tolerated_low_confidence(0.42) benign(0) 7/12 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23099 0,1 MODERATE 1 SNV 1 0,1 PASS TTC . . 0.0002763 0.0008498 0.0002931 0.0002852 8.598e-05 0.0003071 0.0005237 5.704e-05 71604160 KIAA1210 . GRCh38 chrX 119088363 119088363 + Missense_Mutation SNP T T G novel 7316-344 BS_4T3BZ2F6 T T c.2867A>C p.Asn956Thr p.N956T ENST00000402510 11/14 68 62 6 23 23 0 KIAA1210,missense_variant,p.Asn956Thr,ENST00000402510,NM_020721.1; G ENSG00000250423 ENST00000402510 Transcript missense_variant 2867/7824 2867/5130 956/1709 N/T aAc/aCc 1 -1 KIAA1210 HGNC HGNC:29218 protein_coding YES CCDS48156.1 ENSP00000384670 Q9ULL0 UPI0001596C4C NM_020721.1 tolerated(0.23) benign(0.316) 11/14 mobidb-lite MODERATE 1 SNV 5 PASS GTT . . 119088363 CUL4B . GRCh38 chrX 120560262 120560264 + In_Frame_Del DEL GAG GAG - rs766883719 7316-344 BS_4T3BZ2F6 GAG GAG c.429_431del p.Ser146del p.S146del ENST00000404115 3/22 76 64 5 19 17 0 CUL4B,inframe_deletion,p.Ser128del,ENST00000371322,NM_001079872.1,NM_001330624.1;CUL4B,inframe_deletion,p.Ser146del,ENST00000404115,NM_003588.3;CUL4B,inframe_deletion,p.Ser133del,ENST00000336592,;CUL4B,upstream_gene_variant,,ENST00000371323,;CUL4B,non_coding_transcript_exon_variant,,ENST00000467641,;,regulatory_region_variant,,ENSR00000248426,; - ENSG00000158290 ENST00000404115 Transcript inframe_deletion 831-833/3264 429-431/2742 143-144/913 SS/S tcCTCa/tca rs766883719,COSM5160872,COSM1465287,COSM1465286 1 -1 CUL4B HGNC HGNC:2555 protein_coding YES CCDS35379.1 ENSP00000384109 Q13620 UPI0000246E48 NM_003588.3 3/22 Low_complexity_(Seg):seg 0.004837 0.0111 likely_benign 0,1,1,1 MODERATE 1 deletion 1 0,1,1,1 1 PASS ATGAGG . . 4.738e-05 8.56e-05 0.0003299 2.621e-05 120560261 TEX13D . GRCh38 chrX 124334213 124334213 + Missense_Mutation SNP G G C rs1199315517 7316-344 BS_4T3BZ2F6 G G c.1296G>C p.Arg432Ser p.R432S ENST00000632372 1/1 45 35 6 23 23 0 TEX13D,missense_variant,p.Arg432Ser,ENST00000632372,NM_001355534.1;STAG2,intron_variant,,ENST00000469481,;TEX13D,intron_variant,,ENST00000635518,;SH2D1A,intron_variant,,ENST00000635645,; C ENSG00000282419 ENST00000632372 Transcript missense_variant 1554/4203 1296/2145 432/714 R/S agG/agC rs1199315517 1 1 TEX13D HGNC HGNC:52278 protein_coding YES ENSP00000488696 A0A0J9YY54 UPI0000160073 NM_001355534.1 tolerated(0.54) benign(0.011) 1/1 mobidb-lite MODERATE 1 SNV PASS GGT . . 124334213 MT-ND5 . GRCh38 chrM 13031 13031 + Nonsense_Mutation SNP G G A 7316-344 BS_4T3BZ2F6 G G c.695G>A p.Trp232Ter p.W232* ENST00000361567 1/1 16697 15556 929 4795 4726 3 MT-ND5,stop_gained,p.Trp232Ter,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,; A ENSG00000198786 ENST00000361567 Transcript stop_gained 695/1812 695/1812 232/603 W/* tGa/tAa COSM488738 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF00361,Prints_domain:PR01434,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974,Transmembrane_helices:TMhelix 1 HIGH 1 SNV 1 1 PASS TGA . . 13031 MUC4 . GRCh38 chr3 195784072 195784072 + Missense_Mutation SNP G G T rs201313220 7316-362 BS_1HQWNZCB G G c.7508C>A p.Ser2503Tyr p.S2503Y ENST00000463781 2/25 119 80 34 40 35 2 MUC4,missense_variant,p.Ser2503Tyr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser2503Tyr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser2503Tyr,ENST00000478156,;MUC4,missense_variant,p.Ser2503Tyr,ENST00000466475,;MUC4,missense_variant,p.Ser2503Tyr,ENST00000477756,;MUC4,missense_variant,p.Ser2503Tyr,ENST00000477086,;MUC4,missense_variant,p.Ser2503Tyr,ENST00000480843,;MUC4,missense_variant,p.Ser2503Tyr,ENST00000462323,;MUC4,missense_variant,p.Ser2503Tyr,ENST00000470451,;MUC4,missense_variant,p.Ser2503Tyr,ENST00000479406,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 7968/17110 7508/16239 2503/5412 S/Y tCc/tAc rs201313220,COSM6881458,COSM4157746 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0) possibly_damaging(0.618) 2/25 mobidb-lite,hmmpanther:PTHR42668 0.0633 0.0991 0.0504 0.1123 0.0389 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GGA . . 0.08088 0.09153 0.07197 0.1052 0.0003887 0.07362 0.108 0.1063 0.04548 195784072 SDHAP1 . GRCh38 chr3 195965548 195965548 + Splice_Region SNP C C G rs77887672 7316-362 BS_1HQWNZCB C C n.2090-6G>C ENST00000427841 71 63 8 34 32 0 SDHAP1,splice_region_variant,,ENST00000427149,;SDHAP1,splice_region_variant,,ENST00000427841,;SDHAP1,non_coding_transcript_exon_variant,,ENST00000354559,;SDHAP1,splice_region_variant,,ENST00000440850,; G ENSG00000185485 ENST00000427841 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs77887672 1 -1 SDHAP1 HGNC HGNC:32455 processed_transcript YES 14/16 LOW 1 SNV 2 PASS GCC . . 0.2694 0.077 0.3264 0.3112 0.3106 0.332 0.2487 0.2608 0.2906 195965548 BCKDHB . GRCh38 chr6 80171286 80171286 + Missense_Mutation SNP T T C novel 7316-362 BS_1HQWNZCB T T c.638T>C p.Val213Ala p.V213A ENST00000320393 6/10 93 86 7 46 45 0 BCKDHB,missense_variant,p.Val213Ala,ENST00000320393,NM_001318975.1,NM_183050.3;BCKDHB,missense_variant,p.Val213Ala,ENST00000356489,NM_000056.4;BCKDHB,downstream_gene_variant,,ENST00000369760,; C ENSG00000083123 ENST00000320393 Transcript missense_variant 685/3692 638/1179 213/392 V/A gTt/gCt 1 1 BCKDHB HGNC HGNC:987 protein_coding YES CCDS4994.1 ENSP00000318351 P21953 A0A140VKB3 UPI0000001C97 NM_001318975.1,NM_183050.3 deleterious(0.01) possibly_damaging(0.89) 6/10 Gene3D:3.40.50.970,Pfam_domain:PF02779,hmmpanther:PTHR42980,hmmpanther:PTHR42980:SF1,SMART_domains:SM00861,Superfamily_domains:SSF52518,cd07036 MODERATE 1 SNV 1 1 PASS GTT . . 80171286 VPS13B . GRCh38 chr8 99835276 99835276 + Missense_Mutation SNP A A G novel 7316-362 BS_1HQWNZCB A A c.9769A>G p.Ile3257Val p.I3257V ENST00000358544 53/62 86 80 6 39 38 0 VPS13B,missense_variant,p.Ile3257Val,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Ile3232Val,ENST00000357162,NM_152564.4; G ENSG00000132549 ENST00000358544 Transcript missense_variant 9880/14094 9769/12069 3257/4022 I/V Atc/Gtc 1 1 VPS13B HGNC HGNC:2183 protein_coding YES CCDS6280.1 ENSP00000351346 Q7Z7G8 UPI00001D2D35 NM_017890.4 tolerated(0.12) benign(0) 53/62 hmmpanther:PTHR12517 MODERATE 1 SNV 1 1 PASS TAT . . 99835276 DGKZ . GRCh38 chr11 46347688 46347688 + Missense_Mutation SNP C C A rs76656670 7316-362 BS_1HQWNZCB C C c.29C>A p.Ala10Asp p.A10D ENST00000456247 1/31 86 69 14 29 29 0 DGKZ,missense_variant,p.Ala10Asp,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala10Asp,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala10Asp,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 117/3482 29/2787 10/928 A/D gCc/gAc rs76656670,COSM228548 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 tolerated_low_confidence(0.59) probably_damaging(0.991) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS GCC . . 0.3023 0.1359 0.2655 0.3276 0.1687 0.35 0.3649 0.3035 0.2366 46347688 ADAMTS7 . GRCh38 chr15 78765997 78765997 + Missense_Mutation SNP A A C rs199823022 7316-362 BS_1HQWNZCB A A c.3914T>G p.Val1305Gly p.V1305G ENST00000388820 19/24 76 60 12 41 41 0 ADAMTS7,missense_variant,p.Val1305Gly,ENST00000388820,NM_014272.4;ADAMTS7,downstream_gene_variant,,ENST00000566303,;ADAMTS7,downstream_gene_variant,,ENST00000565793,;ADAMTS7,downstream_gene_variant,,ENST00000568712,;ADAMTS7,upstream_gene_variant,,ENST00000569934,; C ENSG00000136378 ENST00000388820 Transcript missense_variant 4125/5490 3914/5061 1305/1686 V/G gTc/gGc rs199823022,COSM2011260 1 -1 ADAMTS7 HGNC HGNC:223 protein_coding YES CCDS32303.1 ENSP00000373472 Q9UKP4 UPI00002263B3 NM_014272.4 tolerated(0.48) benign(0) 19/24 hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142 0,1 MODERATE 1 SNV 1 0,1 PASS GAC . . 0.004548 0.0006661 0.005447 0.0005951 0.005545 0.0364 0.0003632 0.00261 0.0004661 78765997 GSE1 . GRCh38 chr16 85655781 85655781 + Missense_Mutation SNP A A C rs764482625 7316-362 BS_1HQWNZCB A A c.853A>C p.Thr285Pro p.T285P ENST00000253458 6/16 57 38 13 31 29 1 GSE1,missense_variant,p.Thr285Pro,ENST00000253458,NM_014615.3;GSE1,missense_variant,p.Thr212Pro,ENST00000393243,NM_001278184.1;GSE1,missense_variant,p.Thr92Pro,ENST00000412692,;GSE1,missense_variant,p.Thr181Pro,ENST00000405402,NM_001134473.2;GSE1,missense_variant,p.Thr181Pro,ENST00000411612,;GSE1,downstream_gene_variant,,ENST00000635906,;RN7SL381P,upstream_gene_variant,,ENST00000577658,; C ENSG00000131149 ENST00000253458 Transcript missense_variant 1029/7495 853/3654 285/1217 T/P Acc/Ccc rs764482625 1 1 GSE1 HGNC HGNC:28979 protein_coding YES CCDS10952.1 ENSP00000253458 Q14687 UPI0000185F04 NM_014615.3 tolerated(0.28) benign(0.046) 6/16 Gene3D:1.20.1000.10,hmmpanther:PTHR17608 MODERATE 1 SNV 5 PASS CAC . . 0.0009101 0.0004056 0.003091 0.001384 0.0005622 0.0009024 0.0004623 0.001431 0.0006213 85655781 RECQL5 . GRCh38 chr17 75630844 75630844 + Splice_Region SNP G G T rs113150921 7316-362 BS_1HQWNZCB G G c.1586-7C>A ENST00000317905 64 38 6 37 30 0 RECQL5,splice_region_variant,,ENST00000317905,NM_004259.6;RECQL5,splice_region_variant,,ENST00000423245,;RECQL5,splice_region_variant,,ENST00000580707,;SMIM5,upstream_gene_variant,,ENST00000375215,NM_001162995.2;RECQL5,downstream_gene_variant,,ENST00000578201,;RECQL5,upstream_gene_variant,,ENST00000581825,;RECQL5,upstream_gene_variant,,ENST00000582548,;MYO15B,downstream_gene_variant,,ENST00000610510,NM_001309242.1;MYO15B,downstream_gene_variant,,ENST00000633867,;MYO15B,downstream_gene_variant,,ENST00000642007,;RECQL5,splice_region_variant,,ENST00000443199,;SMIM5,upstream_gene_variant,,ENST00000581115,;RECQL5,downstream_gene_variant,,ENST00000583673,;RECQL5,upstream_gene_variant,,ENST00000578865,;RECQL5,upstream_gene_variant,,ENST00000579265,;MYO15B,downstream_gene_variant,,ENST00000580262,;MYO15B,downstream_gene_variant,,ENST00000580414,;RECQL5,downstream_gene_variant,,ENST00000582464,;RECQL5,upstream_gene_variant,,ENST00000585205,;MYO15B,downstream_gene_variant,,ENST00000612587,;MYO15B,downstream_gene_variant,,ENST00000621743,; T ENSG00000108469 ENST00000317905 Transcript splice_region_variant,intron_variant rs113150921,COSM5484156,COSM5484155 1 -1 RECQL5 HGNC HGNC:9950 protein_coding YES CCDS42380.1 ENSP00000317636 O94762 A0A024R8M9 UPI0000133477 NM_004259.6 11/19 0,1,1 LOW 1 SNV 1 0,1,1 PASS GGG . . 0.3105 0.2807 0.2709 0.2178 0.3408 0.3289 0.3425 0.3017 0.2852 75630844 RHPN2 . GRCh38 chr19 32999660 32999660 + Missense_Mutation SNP T T C rs74582927 7316-362 BS_1HQWNZCB T T c.1151A>G p.Gln384Arg p.Q384R ENST00000254260 10/15 68 59 7 39 37 0 RHPN2,missense_variant,p.Gln384Arg,ENST00000254260,NM_033103.4;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,non_coding_transcript_exon_variant,,ENST00000544458,;RHPN2,upstream_gene_variant,,ENST00000585641,; C ENSG00000131941 ENST00000254260 Transcript missense_variant 1187/3500 1151/2061 384/686 Q/R cAg/cGg rs74582927,COSM1480906 1 -1 RHPN2 HGNC HGNC:19974 protein_coding YES CCDS12427.1 ENSP00000254260 Q8IUC4 UPI00000747A3 NM_033103.4 deleterious(0.03) probably_damaging(0.982) 10/15 Gene3D:1.25.40.280,Pfam_domain:PF03097,PROSITE_profiles:PS51180,hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF5,SMART_domains:SM01041,cd09249 0.3003 0.2176 0.2401 0.2883 0.32 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 0.2666 0.201 0.1833 0.3284 0.1173 0.3941 0.2996 0.2572 0.2383 32999660 AP000547.2 . GRCh38 chr22 16526121 16526121 + Splice_Region SNP A A T rs201977621 7316-362 BS_1HQWNZCB A A n.398+8A>T ENST00000609641 85 64 14 32 30 0 AP000547.2,splice_region_variant,,ENST00000609641,; T ENSG00000273362 ENST00000609641 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs201977621 1 1 AP000547.2 Clone_based_ensembl_gene lincRNA YES 2/2 LOW 1 SNV 5 PASS CAG . . 16526121 SUSD2 . GRCh38 chr22 24183081 24183081 + Missense_Mutation SNP G G A rs62231981 7316-362 BS_1HQWNZCB G G c.101G>A p.Arg34His p.R34H ENST00000358321 2/15 105 78 26 45 43 2 SUSD2,missense_variant,p.Arg34His,ENST00000358321,NM_019601.3;CABIN1,downstream_gene_variant,,ENST00000263119,NM_012295.3;CABIN1,downstream_gene_variant,,ENST00000337989,;CABIN1,downstream_gene_variant,,ENST00000398319,NM_001199281.1;CABIN1,downstream_gene_variant,,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000617531,NM_001201429.1;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,; A ENSG00000099994 ENST00000358321 Transcript missense_variant 362/3404 101/2469 34/822 R/H cGc/cAc rs62231981,COSM1178084 1 1 SUSD2 HGNC HGNC:30667 protein_coding YES CCDS13824.1 ENSP00000351075 Q9UGT4 A0A140VJW3 UPI000006CC92 NM_019601.3 tolerated(0.08) benign(0.133) 2/15 PROSITE_profiles:PS50958,hmmpanther:PTHR13802:SF43,hmmpanther:PTHR13802,Pfam_domain:PF01033,Superfamily_domains:SSF90188 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.4722 0.3229 0.4827 0.4869 0.4767 0.4939 0.4844 0.4738 0.4554 24183081 SUSD2 . GRCh38 chr22 24183189 24183189 + Missense_Mutation SNP G G T rs79232038 7316-362 BS_1HQWNZCB G G c.209G>T p.Gly70Val p.G70V ENST00000358321 2/15 110 85 24 38 37 1 SUSD2,missense_variant,p.Gly70Val,ENST00000358321,NM_019601.3;CABIN1,downstream_gene_variant,,ENST00000263119,NM_012295.3;CABIN1,downstream_gene_variant,,ENST00000337989,;CABIN1,downstream_gene_variant,,ENST00000398319,NM_001199281.1;CABIN1,downstream_gene_variant,,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000617531,NM_001201429.1;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,; T ENSG00000099994 ENST00000358321 Transcript missense_variant 470/3404 209/2469 70/822 G/V gGa/gTa rs79232038,COSM1180264 1 1 SUSD2 HGNC HGNC:30667 protein_coding YES CCDS13824.1 ENSP00000351075 Q9UGT4 A0A140VJW3 UPI000006CC92 NM_019601.3 deleterious(0) probably_damaging(0.999) 2/15 hmmpanther:PTHR13802:SF43,hmmpanther:PTHR13802,Gene3D:2.60.40.10,Superfamily_domains:SSF90188 0,1 MODERATE 1 SNV 1 0,1 PASS GGA . . 0.4173 0.1992 0.4263 0.4221 0.4445 0.4588 0.447 0.4113 0.3474 24183189 RFPL3 . GRCh38 chr22 32360716 32360716 + Missense_Mutation SNP C C T rs73166367 7316-362 BS_1HQWNZCB C C c.838C>T p.Arg280Cys p.R280C ENST00000249007 2/2 83 70 12 39 39 0 RFPL3,missense_variant,p.Arg280Cys,ENST00000249007,NM_001098535.1;RFPL3,missense_variant,p.Arg251Cys,ENST00000397468,NM_006604.2;RFPL3S,non_coding_transcript_exon_variant,,ENST00000400234,;RFPL3S,non_coding_transcript_exon_variant,,ENST00000382084,;RFPL3S,non_coding_transcript_exon_variant,,ENST00000461833,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,upstream_gene_variant,,ENST00000621921,;RF02171,upstream_gene_variant,,ENST00000617561,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,; T ENSG00000128276 ENST00000249007 Transcript missense_variant 1043/1488 838/954 280/317 R/C Cgc/Tgc rs73166367,COSM78412,COSM1415947 1 1 RFPL3 HGNC HGNC:9980 protein_coding YES CCDS43011.1 ENSP00000249007 O75679 UPI000013CC68 NM_001098535.1 tolerated(0.12) possibly_damaging(0.822) 2/2 PROSITE_profiles:PS50188,cd15821,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF240,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GCG . . 0.1621 0.2881 0.08538 0.1866 0.02736 0.1704 0.206 0.1454 0.1098 32360716 MT-CO1 . GRCh38 chrM 6111 6111 + Missense_Mutation SNP G G A novel 7316-362 BS_1HQWNZCB G G c.208G>A p.Val70Met p.V70M ENST00000361624 1/1 19529 16513 2655 3766 3709 0 MT-CO1,missense_variant,p.Val70Met,ENST00000361624,;MT-ND3,upstream_gene_variant,,ENST00000361227,;MT-ND4L,upstream_gene_variant,,ENST00000361335,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND1,downstream_gene_variant,,ENST00000361390,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-CO2,upstream_gene_variant,,ENST00000361739,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-CO3,upstream_gene_variant,,ENST00000362079,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-TV,downstream_gene_variant,,ENST00000387342,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,downstream_gene_variant,,ENST00000387365,;MT-TQ,upstream_gene_variant,,ENST00000387372,;MT-TM,downstream_gene_variant,,ENST00000387377,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,downstream_gene_variant,,ENST00000387416,;MT-TD,upstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-TG,upstream_gene_variant,,ENST00000387429,;MT-TR,upstream_gene_variant,,ENST00000387439,;MT-RNR1,downstream_gene_variant,,ENST00000389680,; A ENSG00000198804 ENST00000361624 Transcript missense_variant 208/1542 208/1542 70/513 V/M Gta/Ata 1 1 MT-CO1 HGNC HGNC:7419 protein_coding YES ENSP00000354499 P00395 U5YWV7 UPI0000000AA3 deleterious_low_confidence(0) probably_damaging(0.999) 1/1 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50855,cd01663,hmmpanther:PTHR10422,hmmpanther:PTHR10422:SF18,Pfam_domain:PF00115,Gene3D:1.20.210.10,Superfamily_domains:SSF81442,Prints_domain:PR01165 MODERATE 1 SNV 1 PASS AGT . . 6111 ADAM15 . GRCh38 chr1 155062344 155062344 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.2524A>C p.Ile842Leu p.I842L ENST00000356955 22/23 55 44 10 20 19 0 ADAM15,missense_variant,p.Ile842Leu,ENST00000356955,NM_207197.2;ADAM15,missense_variant,p.Ile841Leu,ENST00000449910,NM_207196.2;ADAM15,missense_variant,p.Ile818Leu,ENST00000355956,NM_207194.2;ADAM15,missense_variant,p.Ile817Leu,ENST00000359280,NM_207195.2;ADAM15,missense_variant,p.Glu793Asp,ENST00000368412,NM_001261465.1;ADAM15,missense_variant,p.Ile793Leu,ENST00000271836,NM_003815.4;ADAM15,missense_variant,p.Glu769Asp,ENST00000360674,NM_207191.2;ADAM15,missense_variant,p.Ile803Leu,ENST00000531455,NM_001261464.1;ADAM15,missense_variant,p.Ile499Leu,ENST00000368413,;EFNA4,upstream_gene_variant,,ENST00000359751,NM_182690.2;EFNA4,upstream_gene_variant,,ENST00000368409,NM_005227.2;EFNA4,upstream_gene_variant,,ENST00000427683,NM_182689.1;ADAM15,downstream_gene_variant,,ENST00000447332,NM_001261466.1;AL691442.1,upstream_gene_variant,,ENST00000505139,;ADAM15,non_coding_transcript_exon_variant,,ENST00000472434,;ADAM15,non_coding_transcript_exon_variant,,ENST00000461234,;ADAM15,non_coding_transcript_exon_variant,,ENST00000474709,;ADAM15,downstream_gene_variant,,ENST00000462116,;ADAM15,downstream_gene_variant,,ENST00000468053,;ADAM15,3_prime_UTR_variant,,ENST00000526491,;ADAM15,3_prime_UTR_variant,,ENST00000529473,;ADAM15,non_coding_transcript_exon_variant,,ENST00000527418,;ADAM15,non_coding_transcript_exon_variant,,ENST00000498481,;ADAM15,non_coding_transcript_exon_variant,,ENST00000464824,;ADAM15,downstream_gene_variant,,ENST00000461564,; C ENSG00000143537 ENST00000356955 Transcript missense_variant 2625/2949 2524/2592 842/863 I/L Atc/Ctc 1 1 ADAM15 HGNC HGNC:193 protein_coding YES CCDS1087.1 ENSP00000349436 Q13444 UPI000035CC78 NM_207197.2 tolerated(0.83) benign(0.062) 22/23 mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 155062344 ZNF678 . GRCh38 chr1 227655455 227655455 + Missense_Mutation SNP T T A rs1277783057 7316-3570 BS_6FHKKNF0 T T c.1205T>A p.Val402Glu p.V402E ENST00000343776 4/4 58 47 10 26 26 0 ZNF678,missense_variant,p.Val402Glu,ENST00000343776,;ZNF678,missense_variant,p.Val402Glu,ENST00000397097,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,NM_178549.3;ZNF678,downstream_gene_variant,,ENST00000465266,; A ENSG00000181450 ENST00000343776 Transcript missense_variant 1550/8556 1205/1578 402/525 V/E gTg/gAg rs1277783057,COSM1723409,COSM1723408 1 1 ZNF678 HGNC HGNC:28652 protein_coding YES ENSP00000344828 Q5SXM1 UPI000019862A tolerated(1) benign(0.007) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF714,hmmpanther:PTHR24377:SF714,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GTG . . 4.138e-06 3.327e-05 227655455 SLC35F6 . GRCh38 chr2 26776450 26776450 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.614A>C p.Asn205Thr p.N205T ENST00000344420 5/6 50 40 9 35 33 1 SLC35F6,missense_variant,p.Asn205Thr,ENST00000344420,NM_017877.3;CENPA,intron_variant,,ENST00000475662,;SLC35F6,intron_variant,,ENST00000482746,;SLC35F6,3_prime_UTR_variant,,ENST00000429494,;SLC35F6,3_prime_UTR_variant,,ENST00000414029,; C ENSG00000213699 ENST00000344420 Transcript missense_variant 676/3898 614/1116 205/371 N/T aAt/aCt 1 1 SLC35F6 HGNC HGNC:26055 protein_coding YES CCDS1728.1 ENSP00000345528 Q8N357 UPI0000071B52 NM_017877.3 tolerated(0.06) benign(0.071) 5/6 Pfam_domain:PF06027,PIRSF_domain:PIRSF036436,hmmpanther:PTHR13146,hmmpanther:PTHR13146:SF0 MODERATE 1 SNV 1 PASS AAT . . 26776450 PCBP4 . GRCh38 chr3 51961186 51961186 + Missense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.55A>C p.Thr19Pro p.T19P ENST00000461554 3/14 69 59 5 33 31 1 PCBP4,missense_variant,p.Thr19Pro,ENST00000461554,NM_001174100.1;PCBP4,missense_variant,p.Thr19Pro,ENST00000355852,NM_033008.2;PCBP4,missense_variant,p.Thr19Pro,ENST00000484633,NM_020418.3;PCBP4,missense_variant,p.Thr19Pro,ENST00000322099,NM_033010.2;PCBP4,missense_variant,p.Thr19Pro,ENST00000428823,;PCBP4,missense_variant,p.Thr19Pro,ENST00000471622,;PCBP4,missense_variant,p.Thr19Pro,ENST00000466412,;PCBP4,missense_variant,p.Thr19Pro,ENST00000468324,;PCBP4,missense_variant,p.Thr19Pro,ENST00000483411,;PCBP4,missense_variant,p.Thr19Pro,ENST00000461544,;PCBP4,missense_variant,p.Thr19Pro,ENST00000497653,;PCBP4,missense_variant,p.Thr19Pro,ENST00000489595,;PCBP4,missense_variant,p.Thr19Pro,ENST00000490063,;GPR62,downstream_gene_variant,,ENST00000322241,NM_080865.3;AC115284.1,downstream_gene_variant,,ENST00000488257,;PCBP4,missense_variant,p.Thr19Pro,ENST00000471308,;PCBP4,non_coding_transcript_exon_variant,,ENST00000492809,;PCBP4,non_coding_transcript_exon_variant,,ENST00000498822,;PCBP4,non_coding_transcript_exon_variant,,ENST00000497390,;PCBP4,non_coding_transcript_exon_variant,,ENST00000471358,; G ENSG00000090097 ENST00000461554 Transcript missense_variant 387/2147 55/1212 19/403 T/P Acg/Ccg 1 -1 PCBP4 HGNC HGNC:8652 protein_coding YES CCDS2839.1 ENSP00000417196 P57723 A0A024R320 UPI00001313CB NM_001174100.1 deleterious(0) probably_damaging(0.994) 3/14 Gene3D:3.30.1370.10,Pfam_domain:PF00013,PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF166,SMART_domains:SM00322,Superfamily_domains:SSF54791,cd02396 MODERATE 1 SNV 1 PASS GTG . . 51961186 RUVBL1 . GRCh38 chr3 128123594 128123594 + Missense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.131A>C p.Asn44Thr p.N44T ENST00000322623 1/11 56 43 13 43 40 2 RUVBL1,missense_variant,p.Asn44Thr,ENST00000322623,NM_003707.2,NM_001319084.1;RUVBL1,intron_variant,,ENST00000464873,NM_001319086.1;,regulatory_region_variant,,ENSR00000158057,; G ENSG00000175792 ENST00000322623 Transcript missense_variant 231/1761 131/1371 44/456 N/T aAc/aCc 1 -1 RUVBL1 HGNC HGNC:10474 protein_coding YES CCDS3047.1 ENSP00000318297 Q9Y265 UPI0000044739 NM_003707.2,NM_001319084.1 tolerated(0.35) benign(0) 1/11 cd00009,hmmpanther:PTHR11093:SF6,hmmpanther:PTHR11093,Pfam_domain:PF06068,Gene3D:3.40.50.300,Superfamily_domains:SSF52540 MODERATE 1 SNV 1 PASS GTT . . 128123594 ZIC1 . GRCh38 chr3 147410379 147410379 + Nonsense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.267T>G p.Tyr89Ter p.Y89* ENST00000282928 1/3 61 52 9 43 41 1 ZIC1,stop_gained,p.Tyr89Ter,ENST00000282928,NM_003412.3;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,NM_032153.5;ZIC4,upstream_gene_variant,,ENST00000425731,NM_001168379.1;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC4,upstream_gene_variant,,ENST00000473123,;ZIC4,upstream_gene_variant,,ENST00000491672,NM_001243256.1;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,; G ENSG00000152977 ENST00000282928 Transcript stop_gained 996/5241 267/1344 89/447 Y/* taT/taG 1 1 ZIC1 HGNC HGNC:12872 protein_coding YES CCDS3136.1 ENSP00000282928 Q15915 UPI000013DD09 NM_003412.3 1/3 hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26 HIGH 1 SNV 1 1 PASS ATT . . 147410379 MUC4 . GRCh38 chr3 195781605 195781605 + Missense_Mutation SNP G G C rs368202391 7316-3570 BS_6FHKKNF0 G G c.9975C>G p.His3325Gln p.H3325Q ENST00000463781 2/25 34 25 5 17 16 0 MUC4,missense_variant,p.His3325Gln,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His3325Gln,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His3325Gln,ENST00000478156,;MUC4,missense_variant,p.His3325Gln,ENST00000466475,;MUC4,missense_variant,p.His3325Gln,ENST00000477756,;MUC4,missense_variant,p.His3325Gln,ENST00000477086,;MUC4,missense_variant,p.His3325Gln,ENST00000480843,;MUC4,missense_variant,p.His3325Gln,ENST00000462323,;MUC4,missense_variant,p.His3325Gln,ENST00000470451,;MUC4,missense_variant,p.His3325Gln,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 10435/17110 9975/16239 3325/5412 H/Q caC/caG rs368202391,COSM321831 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.56) benign(0.234) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGT . . 0.0002564 0.0001526 4.298e-05 0.0003007 0.001008 0.0002182 0.0001804 195781605 LMAN2 . GRCh38 chr5 177332243 177332243 + Missense_Mutation SNP T T G 7316-3570 BS_6FHKKNF0 T T c.914A>C p.Asn305Thr p.N305T ENST00000303127 8/8 59 52 6 29 27 0 LMAN2,missense_variant,p.Asn305Thr,ENST00000303127,NM_006816.2;LMAN2,missense_variant,p.Thr313Pro,ENST00000515209,;LMAN2,missense_variant,p.Gln190His,ENST00000514458,;LMAN2,downstream_gene_variant,,ENST00000502560,;LMAN2,downstream_gene_variant,,ENST00000513877,;LMAN2,non_coding_transcript_exon_variant,,ENST00000504071,;LMAN2,downstream_gene_variant,,ENST00000502721,; G ENSG00000169223 ENST00000303127 Transcript missense_variant 1119/1800 914/1071 305/356 N/T aAc/aCc COSM1328884 1 -1 LMAN2 HGNC HGNC:16986 protein_coding YES CCDS4417.1 ENSP00000303366 Q12907 UPI0000037B35 NM_006816.2 tolerated(0.14) benign(0.099) 8/8 hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF20 1 MODERATE 1 SNV 1 1 PASS GTT . . 177332243 SP8 . GRCh38 chr7 20784846 20784846 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.971T>G p.Met324Arg p.M324R ENST00000418710 2/2 53 44 7 40 38 1 SP8,missense_variant,p.Met282Arg,ENST00000617581,;SP8,missense_variant,p.Met306Arg,ENST00000361443,NM_198956.3;SP8,missense_variant,p.Met324Arg,ENST00000418710,NM_182700.5;,regulatory_region_variant,,ENSR00000209280,; C ENSG00000164651 ENST00000418710 Transcript missense_variant 1059/1618 971/1527 324/508 M/R aTg/aGg 1 -1 SP8 HGNC HGNC:19196 protein_coding YES CCDS43555.1 ENSP00000408792 Q8IXZ3 UPI00001AADF2 NM_182700.5 tolerated(0.4) benign(0.3) 2/2 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23235:SF25,hmmpanther:PTHR23235,Gene3D:3.30.160.60 MODERATE 1 SNV 1 PASS CAT . . 20784846 SKAP2 . GRCh38 chr7 26844143 26844143 + Splice_Region DEL A A - rs768461773 7316-3570 BS_6FHKKNF0 A A c.200-6del ENST00000345317 39 27 7 27 23 0 SKAP2,splice_region_variant,,ENST00000345317,NM_003930.4,NM_001303468.1;SKAP2,splice_region_variant,,ENST00000432747,;SKAP2,splice_region_variant,,ENST00000481204,;SKAP2,splice_region_variant,,ENST00000487720,;SKAP2,splice_region_variant,,ENST00000490456,;SKAP2,splice_region_variant,,ENST00000495802,;SKAP2,splice_region_variant,,ENST00000497511,;SKAP2,splice_region_variant,,ENST00000468712,; - ENSG00000005020 ENST00000345317 Transcript splice_region_variant,intron_variant rs768461773,TMP_ESP_7_26883762_26883762,COSM5438353,COSM5438352 1 -1 SKAP2 HGNC HGNC:15687 protein_coding YES CCDS5400.1 ENSP00000005587 O75563 UPI0000073C8C NM_003930.4,NM_001303468.1 3/12 0.1147 0.09668 0,0,1,1 LOW 1 deletion 1 0,0,1,1 PASS TTAA . . 0.1395 0.1538 0.1629 0.1422 0.2014 0.1135 0.1209 0.1346 0.1684 26844142 HOXA1 . GRCh38 chr7 27095695 27095697 + In_Frame_Del DEL CGA CGA - rs368428758 7316-3570 BS_6FHKKNF0 CGA CGA c.216_218del p.Arg73del p.R73del ENST00000343060 1/2 52 43 5 23 21 0 HOXA1,inframe_deletion,p.Arg73del,ENST00000343060,NM_005522.4;HOXA1,inframe_deletion,p.Arg73del,ENST00000643460,;HOXA1,inframe_deletion,p.Arg73del,ENST00000355633,NM_153620.2;HOXA2,downstream_gene_variant,,ENST00000222718,NM_006735.3;HOTAIRM1,intron_variant,,ENST00000495032,;HOTAIRM1,upstream_gene_variant,,ENST00000425358,;HOTAIRM1,upstream_gene_variant,,ENST00000428939,;HOTAIRM1,upstream_gene_variant,,ENST00000429611,;HOTAIRM1,upstream_gene_variant,,ENST00000434063,;HOTAIRM1,upstream_gene_variant,,ENST00000593300,;RF01976,upstream_gene_variant,,ENST00000616712,;RF01978,upstream_gene_variant,,ENST00000617934,;RF01979,upstream_gene_variant,,ENST00000619311,;RF01977,upstream_gene_variant,,ENST00000619974,;RF01975,upstream_gene_variant,,ENST00000622675,;HOXA2,downstream_gene_variant,,ENST00000612779,;,regulatory_region_variant,,ENSR00000325311,; - ENSG00000105991 ENST00000343060 Transcript inframe_deletion 278-280/2517 216-218/1008 72-73/335 HR/H caTCGc/cac rs368428758,COSM1488496 1 -1 HOXA1 HGNC HGNC:5099 protein_coding YES CCDS5401.1 ENSP00000343246 P49639 UPI000013C80E NM_005522.4 1/2 hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF158,mobidb-lite,Low_complexity_(Seg):seg 0.0074 0.0144 0.001 0.0209 0.0051 likely_benign 0,1 MODERATE 1 deletion 1 1,1 1 PASS GGCGAT . . 0.03014 0.005956 0.02597 0.058 0.0007889 0.02939 0.03904 0.03498 0.02283 27095694 SOX17 . GRCh38 chr8 54459598 54459598 + Missense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.848T>G p.Ile283Ser p.I283S ENST00000297316 2/2 62 48 11 43 40 1 SOX17,missense_variant,p.Ile283Ser,ENST00000297316,NM_022454.3;,regulatory_region_variant,,ENSR00000224673,; G ENSG00000164736 ENST00000297316 Transcript missense_variant 1052/2342 848/1245 283/414 I/S aTt/aGt 1 1 SOX17 HGNC HGNC:18122 protein_coding YES CCDS6159.1 ENSP00000297316 Q9H6I2 UPI00001362B7 NM_022454.3 tolerated(0.26) benign(0.001) 2/2 mobidb-lite,PROSITE_profiles:PS51516,hmmpanther:PTHR10270:SF216,hmmpanther:PTHR10270,Gene3D:1.10.30.10 MODERATE 1 SNV 1 1 PASS ATT . . 54459598 KIFC2 . GRCh38 chr8 144467051 144467051 + Missense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.271T>G p.Phe91Val p.F91V ENST00000301332 3/17 67 54 13 32 31 0 KIFC2,missense_variant,p.Phe91Val,ENST00000645548,;KIFC2,missense_variant,p.Phe91Val,ENST00000301332,NM_145754.3;KIFC2,missense_variant,p.Phe91Val,ENST00000642354,;CYHR1,upstream_gene_variant,,ENST00000306145,;CYHR1,upstream_gene_variant,,ENST00000403000,NM_032687.3;CYHR1,upstream_gene_variant,,ENST00000424149,NM_001129888.1;CYHR1,upstream_gene_variant,,ENST00000438911,NM_138496.1;CYHR1,upstream_gene_variant,,ENST00000526887,;CYHR1,upstream_gene_variant,,ENST00000530374,;CYHR1,upstream_gene_variant,,ENST00000530637,;CYHR1,upstream_gene_variant,,ENST00000533764,;AC084125.1,downstream_gene_variant,,ENST00000525461,;KIFC2,upstream_gene_variant,,ENST00000531423,;KIFC2,non_coding_transcript_exon_variant,,ENST00000643461,;CYHR1,upstream_gene_variant,,ENST00000524623,;CYHR1,upstream_gene_variant,,ENST00000528558,;KIFC2,upstream_gene_variant,,ENST00000529644,;KIFC2,upstream_gene_variant,,ENST00000529864,;KIFC2,upstream_gene_variant,,ENST00000531425,;KIFC2,upstream_gene_variant,,ENST00000533114,;,regulatory_region_variant,,ENSR00000232255,; G ENSG00000167702 ENST00000301332 Transcript missense_variant 336/3247 271/2517 91/838 F/V Ttc/Gtc 1 1 KIFC2 HGNC HGNC:29530 protein_coding YES CCDS6427.1 ENSP00000301332 Q96AC6 UPI000006D3B2 NM_145754.3 deleterious_low_confidence(0) possibly_damaging(0.746) 3/17 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 144467051 QSOX2 . GRCh38 chr9 136245764 136245764 + Missense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.40A>C p.Ile14Leu p.I14L ENST00000358701 1/12 52 39 8 26 26 0 QSOX2,missense_variant,p.Ile14Leu,ENST00000358701,NM_181701.3;CCDC187,downstream_gene_variant,,ENST00000638797,;CR392000.1,upstream_gene_variant,,ENST00000624770,;,regulatory_region_variant,,ENSR00000242992,; G ENSG00000165661 ENST00000358701 Transcript missense_variant 78/4530 40/2097 14/698 I/L Atc/Ctc 1 -1 QSOX2 HGNC HGNC:30249 protein_coding YES CCDS35178.1 ENSP00000351536 Q6ZRP7 UPI00004A7AC1 NM_181701.3 tolerated_low_confidence(0.41) benign(0) 1/12 MODERATE 1 SNV 2 PASS ATT . . 136245764 GPRIN2 . GRCh38 chr10 46550012 46550012 + Missense_Mutation SNP C C T novel 7316-3570 BS_6FHKKNF0 C C c.725G>A p.Arg242Lys p.R242K ENST00000374317 3/3 116 106 5 67 63 0 GPRIN2,missense_variant,p.Arg242Lys,ENST00000374317,NM_014696.3;GPRIN2,missense_variant,p.Arg242Lys,ENST00000374314,; T ENSG00000204175 ENST00000374317 Transcript missense_variant 998/1966 725/1377 242/458 R/K aGg/aAg 1 -1 GPRIN2 HGNC HGNC:23730 protein_coding YES CCDS73101.1 ENSP00000363436 O60269 UPI000013ECB4 NM_014696.3 deleterious(0.05) benign(0) 3/3 hmmpanther:PTHR15718,hmmpanther:PTHR15718:SF5 MODERATE 1 SNV 3 PASS CCT . . 46550012 NKX6-2 . GRCh38 chr10 132785677 132785677 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.272T>G p.Val91Gly p.V91G ENST00000368592 1/3 51 40 6 19 17 0 NKX6-2,missense_variant,p.Val91Gly,ENST00000368592,NM_177400.2;INPP5A,downstream_gene_variant,,ENST00000368594,NM_001321042.1,NM_005539.4;INPP5A,downstream_gene_variant,,ENST00000445580,;NKX6-2,upstream_gene_variant,,ENST00000441365,; C ENSG00000148826 ENST00000368592 Transcript missense_variant 376/2673 272/834 91/277 V/G gTt/gGt 1 -1 NKX6-2 HGNC HGNC:19321 protein_coding YES CCDS7670.1 ENSP00000357581 Q9C056 UPI000013DB5A NM_177400.2 tolerated(0.12) benign(0.096) 1/3 hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF21 MODERATE 1 SNV 1 1 PASS AAC . . 132785677 OSBP . GRCh38 chr11 59615579 59615579 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.86T>G p.Val29Gly p.V29G ENST00000263847 1/14 36 29 6 24 24 0 OSBP,missense_variant,p.Val29Gly,ENST00000263847,NM_002556.2;AP000442.2,upstream_gene_variant,,ENST00000531108,;AP000442.2,upstream_gene_variant,,ENST00000531311,;,regulatory_region_variant,,ENSR00000040063,; C ENSG00000110048 ENST00000263847 Transcript missense_variant 566/5083 86/2424 29/807 V/G gTg/gGg 1 -1 OSBP HGNC HGNC:8503 protein_coding YES CCDS7974.1 ENSP00000263847 P22059 UPI0000130EAF NM_002556.2 tolerated_low_confidence(0.18) benign(0) 1/14 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAC . . 59615579 SF3B2 . GRCh38 chr11 66052676 66052676 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.137A>C p.Asn46Thr p.N46T ENST00000322535 2/22 55 47 7 29 27 2 SF3B2,missense_variant,p.Asn46Thr,ENST00000528302,;SF3B2,missense_variant,p.Asn46Thr,ENST00000322535,NM_006842.2;SF3B2,missense_variant,p.Asn41Thr,ENST00000530322,;SF3B2,missense_variant,p.Asn46Thr,ENST00000533595,;SF3B2,missense_variant,p.Asn46Thr,ENST00000524627,;SF3B2,5_prime_UTR_variant,,ENST00000524475,;GAL3ST3,upstream_gene_variant,,ENST00000312006,NM_033036.2;SF3B2,downstream_gene_variant,,ENST00000529577,;SF3B2,upstream_gene_variant,,ENST00000533421,;SF3B2,downstream_gene_variant,,ENST00000534307,;SF3B2,non_coding_transcript_exon_variant,,ENST00000531041,;SF3B2,non_coding_transcript_exon_variant,,ENST00000531589,;SF3B2,upstream_gene_variant,,ENST00000525207,;SF3B2,upstream_gene_variant,,ENST00000526653,;GAL3ST3,upstream_gene_variant,,ENST00000527048,;,regulatory_region_variant,,ENSR00000040926,; C ENSG00000087365 ENST00000322535 Transcript missense_variant 186/2903 137/2688 46/895 N/T aAt/aCt 1 1 SF3B2 HGNC HGNC:10769 protein_coding YES CCDS31612.1 ENSP00000318861 Q13435 UPI00001C1F20 NM_006842.2 tolerated_low_confidence(0.66) benign(0.011) 2/22 Gene3D:1.10.720.30,PDB-ENSP_mappings:2do5.A,Pfam_domain:PF02037,PROSITE_profiles:PS50800,SMART_domains:SM00513 MODERATE 1 SNV 1 1 PASS AAT . . 66052676 ZC3H12C . GRCh38 chr11 110093412 110093412 + Translation_Start_Site SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.1A>C p.Met1? p.M1? ENST00000278590 1/6 33 17 7 15 13 0 ZC3H12C,start_lost,p.Met1?,ENST00000278590,NM_033390.1;RDX,intron_variant,,ENST00000645527,;,regulatory_region_variant,,ENSR00000044670,; C ENSG00000149289 ENST00000278590 Transcript start_lost 52/8807 1/2652 1/883 M/L Atg/Ctg 1 1 ZC3H12C HGNC HGNC:29362 protein_coding YES CCDS44727.1 ENSP00000278590 Q9C0D7 UPI0000DD80B8 NM_033390.1 tolerated_low_confidence(0.83) benign(0) 1/6 HIGH 1 SNV 2 PASS TAT . . 110093412 TEAD4 . GRCh38 chr12 3038101 3038101 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.1031A>C p.Lys344Thr p.K344T ENST00000359864 11/13 50 38 8 42 41 0 TEAD4,missense_variant,p.Lys344Thr,ENST00000359864,NM_003213.3;TEAD4,missense_variant,p.Lys301Thr,ENST00000358409,NM_201441.2;TEAD4,missense_variant,p.Lys215Thr,ENST00000397122,NM_201443.2;AC125807.2,upstream_gene_variant,,ENST00000513358,; C ENSG00000197905 ENST00000359864 Transcript missense_variant 1221/1690 1031/1305 344/434 K/T aAa/aCa 1 1 TEAD4 HGNC HGNC:11717 protein_coding YES CCDS31729.1 ENSP00000352926 Q53GI4 UPI000013FEB3 NM_003213.3 deleterious(0) probably_damaging(0.932) 11/13 PIRSF_domain:PIRSF002603,PIRSF_domain:PIRSF500722,hmmpanther:PTHR11834,hmmpanther:PTHR11834:SF2 MODERATE 1 SNV 1 PASS AAA . . 3038101 TAS2R31 . GRCh38 chr12 11031160 11031160 + Missense_Mutation SNP A A C rs766369260 7316-3570 BS_6FHKKNF0 A A c.176T>G p.Leu59Arg p.L59R ENST00000390675 1/1 76 65 10 41 40 0 TAS2R31,missense_variant,p.Leu59Arg,ENST00000390675,NM_176885.2;AC018630.2,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,NM_001316893.1;PRH1,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000536086,;PRH1,intron_variant,,ENST00000541456,;PRH1,intron_variant,,ENST00000541977,;AC018630.2,intron_variant,,ENST00000536668,; C ENSG00000256436 ENST00000390675 Transcript missense_variant 248/1021 176/930 59/309 L/R cTc/cGc rs766369260,COSM1947626 1 -1 TAS2R31 HGNC HGNC:19113 protein_coding YES CCDS53747.1 ENSP00000375093 P59538 UPI000000D820 NM_176885.2 deleterious(0) probably_damaging(0.999) 1/1 Transmembrane_helices:TMhelix,cd15027,hmmpanther:PTHR11394:SF79,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE SNV 0,1 PASS GAG . . 1.633e-05 6.597e-05 0.0001027 1.801e-05 11031160 HECTD4 . GRCh38 chr12 112163078 112163078 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.13078T>G p.Tyr4360Asp p.Y4360D ENST00000377560 75/76 67 49 16 32 31 1 HECTD4,missense_variant,p.Tyr4360Asp,ENST00000377560,;HECTD4,missense_variant,p.Tyr4228Asp,ENST00000550722,NM_001109662.3;MIR6861,downstream_gene_variant,,ENST00000618657,;HECTD4,upstream_gene_variant,,ENST00000549141,;HECTD4,upstream_gene_variant,,ENST00000549306,;HECTD4,non_coding_transcript_exon_variant,,ENST00000547085,;HECTD4,downstream_gene_variant,,ENST00000548140,; C ENSG00000173064 ENST00000377560 Transcript missense_variant 13389/15759 13078/13251 4360/4416 Y/D Tac/Gac 1 -1 HECTD4 HGNC HGNC:26611 protein_coding YES ENSP00000366783 J3KPF0 UPI000387D324 deleterious(0) probably_damaging(0.994) 75/76 PROSITE_profiles:PS50237,cd00078,hmmpanther:PTHR11254:SF292,hmmpanther:PTHR11254,Gene3D:3.30.2410.10,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204 MODERATE 1 SNV 5 PASS TAC . . 112163078 CIT . GRCh38 chr12 119752255 119752256 + Splice_Region DEL AG AG - rs147146275 7316-3570 BS_6FHKKNF0 AG AG c.2707-9_2707-8del ENST00000392521 55 48 5 34 33 0 CIT,splice_region_variant,,ENST00000261833,NM_007174.2;CIT,splice_region_variant,,ENST00000392520,;CIT,splice_region_variant,,ENST00000392521,NM_001206999.1;CIT,intron_variant,,ENST00000536325,;CIT,intron_variant,,ENST00000612548,;CIT,upstream_gene_variant,,ENST00000546026,;CIT,splice_region_variant,,ENST00000537607,;CIT,splice_region_variant,,ENST00000545913,; - ENSG00000122966 ENST00000392521 Transcript splice_region_variant,intron_variant rs147146275,TMP_ESP_12_120190060_120190061,COSM4774174,COSM4774173 1 -1 CIT HGNC HGNC:1985 protein_coding YES CCDS55891.1 ENSP00000376306 O14578 UPI0000683C41 NM_001206999.1 22/47 0.06867 0.1061 0,0,1,1 LOW 1 deletion 1 0,0,1,1 1 PASS ACAGA . . 0.1196 0.05224 0.1485 0.1485 0.1422 0.0757 0.1077 0.1391 0.188 119752254 DNAAF2 . GRCh38 chr14 49634860 49634860 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.290T>G p.Leu97Trp p.L97W ENST00000298292 1/3 64 54 9 35 35 0 DNAAF2,missense_variant,p.Leu97Trp,ENST00000298292,NM_018139.2;DNAAF2,missense_variant,p.Leu97Trp,ENST00000406043,NM_001083908.1;AL139099.2,upstream_gene_variant,,ENST00000556657,;,regulatory_region_variant,,ENSR00000068038,; C ENSG00000165506 ENST00000298292 Transcript missense_variant 371/2963 290/2514 97/837 L/W tTg/tGg 1 -1 DNAAF2 HGNC HGNC:20188 protein_coding YES CCDS9691.2 ENSP00000298292 Q9NVR5 UPI00014F7B85 NM_018139.2 deleterious(0) probably_damaging(0.988) 1/3 HAMAP:MF_03069,Pfam_domain:PF08190,hmmpanther:PTHR22997,hmmpanther:PTHR22997:SF3 MODERATE 1 SNV 1 1 PASS CAA . . 49634860 LPCAT4 . GRCh38 chr15 34366982 34366982 + Splice_Region SNP A A C rs201588215 7316-3570 BS_6FHKKNF0 A A c.114+5T>G ENST00000314891 41 30 7 24 21 0 LPCAT4,splice_region_variant,,ENST00000617710,;LPCAT4,splice_region_variant,,ENST00000314891,NM_153613.2;LPCAT4,upstream_gene_variant,,ENST00000562431,;LPCAT4,upstream_gene_variant,,ENST00000623384,;LPCAT4,splice_region_variant,,ENST00000566581,;LPCAT4,upstream_gene_variant,,ENST00000562404,;LPCAT4,upstream_gene_variant,,ENST00000563240,;LPCAT4,upstream_gene_variant,,ENST00000563748,;LPCAT4,upstream_gene_variant,,ENST00000567507,;LPCAT4,upstream_gene_variant,,ENST00000569804,;,regulatory_region_variant,,ENSR00000074794,; C ENSG00000176454 ENST00000314891 Transcript splice_region_variant,intron_variant rs201588215 1 -1 LPCAT4 HGNC HGNC:30059 protein_coding YES CCDS32191.1 ENSP00000317300 Q643R3 UPI00003D0606 NM_153613.2 1/13 0.0002 0.001 0.0001182 LOW 1 SNV 1 PASS CAT . . 0.0001445 0.0001189 0.0003577 0.0002543 0.0002449 34366982 DUT . GRCh38 chr15 48331765 48331765 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.250A>C p.Lys84Gln p.K84Q ENST00000331200 1/7 52 37 9 27 23 0 DUT,missense_variant,p.Lys84Gln,ENST00000331200,NM_001025248.1;DUT,intron_variant,,ENST00000558472,;DUT,intron_variant,,ENST00000558813,NM_001025249.1;DUT,intron_variant,,ENST00000559416,;DUT,intron_variant,,ENST00000559935,;DUT,upstream_gene_variant,,ENST00000455976,NM_001948.3;DUT,upstream_gene_variant,,ENST00000558367,;DUT,upstream_gene_variant,,ENST00000559540,;AC023355.1,non_coding_transcript_exon_variant,,ENST00000612262,;AC023355.1,non_coding_transcript_exon_variant,,ENST00000560323,;AC023355.1,non_coding_transcript_exon_variant,,ENST00000559134,;DUT,upstream_gene_variant,,ENST00000561350,;DUT,missense_variant,p.Lys84Gln,ENST00000558978,;,regulatory_region_variant,,ENSR00000076158,; C ENSG00000128951 ENST00000331200 Transcript missense_variant 343/2147 250/759 84/252 K/Q Aag/Cag 1 1 DUT HGNC HGNC:3078 protein_coding YES CCDS32231.1 ENSP00000370376 P33316 UPI000035ECE0 NM_001025248.1 tolerated_low_confidence(0.23) benign(0.027) 1/7 mobidb-lite,hmmpanther:PTHR11241,hmmpanther:PTHR11241:SF6 MODERATE 1 SNV 1 PASS TAA . . 48331765 C2CD4B . GRCh38 chr15 62163999 62163999 + Missense_Mutation SNP A A T novel 7316-3570 BS_6FHKKNF0 A A c.986T>A p.Val329Glu p.V329E ENST00000380392 2/2 65 59 5 24 23 0 C2CD4B,missense_variant,p.Val329Glu,ENST00000380392,NM_001007595.2; T ENSG00000205502 ENST00000380392 Transcript missense_variant 1115/1579 986/1095 329/364 V/E gTg/gAg 1 -1 C2CD4B HGNC HGNC:33628 protein_coding YES CCDS32259.1 ENSP00000369755 A6NLJ0 UPI0000161A38 NM_001007595.2 deleterious(0) possibly_damaging(0.764) 2/2 Gene3D:2.60.40.150,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF343,Superfamily_domains:SSF49562 MODERATE 1 SNV 2 PASS CAC . . 62163999 RCCD1 . GRCh38 chr15 90957114 90957114 + Splice_Region SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.168T>G p.Arg56= p.R56= ENST00000394258 3/8 67 57 7 23 23 0 RCCD1,splice_region_variant,p.Arg56=,ENST00000394258,NM_033544.2,NM_001017919.1;RCCD1,splice_region_variant,p.Arg56=,ENST00000555155,;RCCD1,splice_region_variant,p.Arg56=,ENST00000556618,;UNC45A,downstream_gene_variant,,ENST00000394275,NM_001323621.1,NM_001039675.1;UNC45A,downstream_gene_variant,,ENST00000418476,NM_018671.4,NM_001323620.1,NM_001323619.1;UNC45A,downstream_gene_variant,,ENST00000639885,;AC068831.1,upstream_gene_variant,,ENST00000553321,;RCCD1,intron_variant,,ENST00000556774,;RCCD1,non_coding_transcript_exon_variant,,ENST00000555737,;RCCD1,non_coding_transcript_exon_variant,,ENST00000557266,;RCCD1,intron_variant,,ENST00000556333,;UNC45A,downstream_gene_variant,,ENST00000471780,;UNC45A,downstream_gene_variant,,ENST00000487875,;RCCD1,downstream_gene_variant,,ENST00000554302,;RCCD1,upstream_gene_variant,,ENST00000557750,;,regulatory_region_variant,,ENSR00000278967,;,TF_binding_site_variant,,MA0139.1,; G ENSG00000166965 ENST00000394258 Transcript splice_region_variant,synonymous_variant 370/2689 168/1131 56/376 R cgT/cgG 1 1 RCCD1 HGNC HGNC:30457 protein_coding YES CCDS32333.1 ENSP00000377801 A6NED2 A0A024RC72 UPI00001FEBD4 NM_033544.2,NM_001017919.1 3/8 Gene3D:2.130.10.30,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF306,Superfamily_domains:SSF50985 LOW 1 SNV 1 PASS GTG . . 90957114 UNKL . GRCh38 chr16 1385243 1385243 + Missense_Mutation SNP A A C novel 7316-3570 BS_6FHKKNF0 A A c.1229T>G p.Leu410Arg p.L410R ENST00000389221 10/15 64 49 12 41 36 3 UNKL,missense_variant,p.Leu410Arg,ENST00000389221,NM_001193388.3;UNKL,missense_variant,p.Leu410Arg,ENST00000508903,; C ENSG00000059145 ENST00000389221 Transcript missense_variant 1258/5116 1229/2052 410/683 L/R cTc/cGc 1 -1 UNKL HGNC HGNC:14184 protein_coding ENSP00000373873 A0A0A0MRZ1 UPI0002B3F787 NM_001193388.3 deleterious(0) possibly_damaging(0.819) 10/15 hmmpanther:PTHR14493,hmmpanther:PTHR14493:SF37,Low_complexity_(Seg):seg MODERATE SNV 5 PASS GAG . . 1385243 DHRS11 . GRCh38 chr17 36595095 36595095 + Missense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.272T>G p.Val91Gly p.V91G ENST00000618403 2/7 64 55 7 29 29 0 DHRS11,missense_variant,p.Val91Gly,ENST00000618403,NM_024308.3;DHRS11,missense_variant,p.Val12Gly,ENST00000611337,;DHRS11,missense_variant,p.Val12Gly,ENST00000615432,;DHRS11,upstream_gene_variant,,ENST00000621871,;DHRS11,non_coding_transcript_exon_variant,,ENST00000612205,;DHRS11,3_prime_UTR_variant,,ENST00000612538,;DHRS11,upstream_gene_variant,,ENST00000610443,;DHRS11,upstream_gene_variant,,ENST00000617959,; G ENSG00000278535 ENST00000618403 Transcript missense_variant 484/1598 272/783 91/260 V/G gTa/gGa 1 1 DHRS11 HGNC HGNC:28639 protein_coding YES CCDS11315.2 ENSP00000482704 Q6UWP2 A0A024R0T1 UPI0000038A01 NM_024308.3 deleterious(0) probably_damaging(0.932) 2/7 cd05343,hmmpanther:PTHR43115:SF4,hmmpanther:PTHR43115,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081,Prints_domain:PR00080 MODERATE 1 SNV 1 PASS GTA . . 36595095 KCNG2 . GRCh38 chr18 79899494 79899494 + Missense_Mutation SNP A A C 7316-3570 BS_6FHKKNF0 A A c.1079A>C p.Tyr360Ser p.Y360S ENST00000316249 2/2 49 37 8 23 22 1 KCNG2,missense_variant,p.Tyr360Ser,ENST00000316249,NM_012283.1;PQLC1,downstream_gene_variant,,ENST00000357575,NM_001146345.1;PQLC1,downstream_gene_variant,,ENST00000397778,NM_025078.4;PQLC1,downstream_gene_variant,,ENST00000590381,NM_001146343.1;AC114341.1,downstream_gene_variant,,ENST00000618070,;KCNG2,non_coding_transcript_exon_variant,,ENST00000590307,;PQLC1,downstream_gene_variant,,ENST00000469369,;PQLC1,downstream_gene_variant,,ENST00000589000,;PQLC1,downstream_gene_variant,,ENST00000590895,;PQLC1,downstream_gene_variant,,ENST00000351365,;PQLC1,downstream_gene_variant,,ENST00000466449,;PQLC1,downstream_gene_variant,,ENST00000474967,;,regulatory_region_variant,,ENSR00000286902,; C ENSG00000178342 ENST00000316249 Transcript missense_variant 1079/1401 1079/1401 360/466 Y/S tAt/tCt COSM1563992 1 1 KCNG2 HGNC HGNC:6249 protein_coding YES CCDS12019.1 ENSP00000315654 Q9UJ96 UPI000012DC9B NM_012283.1 deleterious(0) probably_damaging(1) 2/2 Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF90,Superfamily_domains:SSF81324 1 MODERATE 1 SNV 1 1 PASS TAT . . 79899494 CACNA1A . GRCh38 chr19 13207768 13207768 + Missense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.7084A>C p.Thr2362Pro p.T2362P ENST00000638029 48/48 73 56 11 20 19 1 CACNA1A,missense_variant,p.Thr2357Pro,ENST00000637769,;CACNA1A,missense_variant,p.Thr2356Pro,ENST00000360228,NM_001127222.1;CACNA1A,missense_variant,p.Thr2362Pro,ENST00000614285,;CACNA1A,missense_variant,p.Thr2310Pro,ENST00000637736,;CACNA1A,missense_variant,p.Thr2362Pro,ENST00000638029,NM_023035.2;CACNA1A,missense_variant,p.Thr2358Pro,ENST00000573710,;CACNA1A,missense_variant,p.Thr2357Pro,ENST00000635727,;CACNA1A,missense_variant,p.Thr2345Pro,ENST00000636012,;CACNA1A,missense_variant,p.Thr831Pro,ENST00000587525,;CACNA1A,missense_variant,p.Thr731Pro,ENST00000585802,;CACNA1A,3_prime_UTR_variant,,ENST00000638009,NM_001127221.1;CACNA1A,3_prime_UTR_variant,,ENST00000635895,;CACNA1A,3_prime_UTR_variant,,ENST00000636389,;CACNA1A,3_prime_UTR_variant,,ENST00000637432,NM_000068.3;CACNA1A,3_prime_UTR_variant,,ENST00000637276,;CACNA1A,downstream_gene_variant,,ENST00000636473,;CACNA1A,downstream_gene_variant,,ENST00000636549,NM_001174080.1;CACNA1A,downstream_gene_variant,,ENST00000637819,;CACNA1A,downstream_gene_variant,,ENST00000637927,;CACNA1A,downstream_gene_variant,,ENST00000636610,;CACNA1A,downstream_gene_variant,,ENST00000636768,;,regulatory_region_variant,,ENSR00000107393,; G ENSG00000141837 ENST00000638029 Transcript missense_variant 7320/7814 7084/7539 2362/2512 T/P Acg/Ccg 1 -1 CACNA1A HGNC HGNC:1388 protein_coding YES CCDS82300.1 ENSP00000489829 A0A087WW63 UPI000152B4F1 NM_023035.2 tolerated(0.35) benign(0) 48/48 mobidb-lite MODERATE 1 SNV 5 1 PASS GTG . . 13207768 USF2 . GRCh38 chr19 35278710 35278710 + Missense_Mutation SNP G G A 7316-3570 BS_6FHKKNF0 G G c.740G>A p.Arg247Gln p.R247Q ENST00000222305 8/10 73 65 8 49 48 0 USF2,missense_variant,p.Arg247Gln,ENST00000222305,NM_003367.3;USF2,missense_variant,p.Arg247Gln,ENST00000595068,;USF2,missense_variant,p.Arg180Gln,ENST00000343550,NM_207291.2;USF2,missense_variant,p.Arg245Gln,ENST00000594064,;USF2,missense_variant,p.Arg103Gln,ENST00000599471,;USF2,missense_variant,p.Arg116Gln,ENST00000379134,NM_001321150.1;USF2,missense_variant,p.Arg125Gln,ENST00000596380,;USF2,missense_variant,p.Arg52Gln,ENST00000599625,;HAMP,upstream_gene_variant,,ENST00000222304,NM_021175.3;HAMP,upstream_gene_variant,,ENST00000598398,;USF2,non_coding_transcript_exon_variant,,ENST00000600341,;USF2,3_prime_UTR_variant,,ENST00000597671,;USF2,non_coding_transcript_exon_variant,,ENST00000594264,;USF2,non_coding_transcript_exon_variant,,ENST00000607959,;USF2,non_coding_transcript_exon_variant,,ENST00000600898,;HAMP,upstream_gene_variant,,ENST00000593580,; A ENSG00000105698 ENST00000222305 Transcript missense_variant 777/1634 740/1041 247/346 R/Q cGg/cAg COSM6817850 1 1 USF2 HGNC HGNC:12594 protein_coding YES CCDS12452.1 ENSP00000222305 Q15853 UPI0000137E4A NM_003367.3 deleterious(0) probably_damaging(0.997) 8/10 Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF11,SMART_domains:SM00353,Superfamily_domains:SSF47459,cd00083 1 MODERATE 1 SNV 1 1 PASS CGG . . 35278710 SSC5D . GRCh38 chr19 55493623 55493623 + Missense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.924T>G p.Asp308Glu p.D308E ENST00000389623 7/14 55 43 10 27 27 0 SSC5D,missense_variant,p.Asp308Glu,ENST00000389623,NM_001144950.1;SSC5D,missense_variant,p.Asp308Glu,ENST00000587166,NM_001195267.1;SSC5D,upstream_gene_variant,,ENST00000589020,;SSC5D,downstream_gene_variant,,ENST00000594321,;SSC5D,downstream_gene_variant,,ENST00000588254,;,regulatory_region_variant,,ENSR00000111666,; G ENSG00000179954 ENST00000389623 Transcript missense_variant 947/4845 924/4722 308/1573 D/E gaT/gaG 1 1 SSC5D HGNC HGNC:26641 protein_coding YES CCDS46196.1 ENSP00000374274 A1L4H1 UPI000192952A NM_001144950.1 deleterious(0.01) possibly_damaging(0.478) 7/14 PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF329,Gene3D:1.20.5.950,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487 MODERATE 1 SNV 1 PASS ATG . . 55493623 RAB36 . GRCh38 chr22 23145478 23145478 + Missense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.113T>G p.Val38Gly p.V38G ENST00000263116 1/11 65 58 7 31 30 1 RAB36,missense_variant,p.Val38Gly,ENST00000263116,NM_004914.3;RAB36,missense_variant,p.Val38Gly,ENST00000341989,;RSPH14,upstream_gene_variant,,ENST00000216036,NM_014433.2;RSPH14,upstream_gene_variant,,ENST00000406876,;RAB36,upstream_gene_variant,,ENST00000420895,;,regulatory_region_variant,,ENSR00000144199,; G ENSG00000100228 ENST00000263116 Transcript missense_variant 153/3828 113/1002 38/333 V/G gTt/gGt 1 1 RAB36 HGNC HGNC:9775 protein_coding YES CCDS13805.1 ENSP00000263116 O95755 UPI000013D3AA NM_004914.3 deleterious_low_confidence(0) possibly_damaging(0.905) 1/11 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 23145478 BAIAP2L2 . GRCh38 chr22 38110477 38110477 + Missense_Mutation SNP T T G novel 7316-3570 BS_6FHKKNF0 T T c.49A>C p.Lys17Gln p.K17Q ENST00000381669 1/14 48 39 9 39 38 1 BAIAP2L2,missense_variant,p.Lys17Gln,ENST00000381669,NM_025045.5;BAIAP2L2,missense_variant,p.Lys17Gln,ENST00000332536,;PLA2G6,downstream_gene_variant,,ENST00000332509,NM_003560.2,NM_001349864.1;PLA2G6,downstream_gene_variant,,ENST00000335539,NM_001004426.1,NM_001349865.1;PLA2G6,downstream_gene_variant,,ENST00000402064,NM_001199562.1,NM_001349866.1;PLA2G6,downstream_gene_variant,,ENST00000463287,;PLA2G6,downstream_gene_variant,,ENST00000496409,;,regulatory_region_variant,,ENSR00000146121,; G ENSG00000128298 ENST00000381669 Transcript missense_variant,splice_region_variant 194/2146 49/1590 17/529 K/Q Aag/Cag 1 -1 BAIAP2L2 HGNC HGNC:26203 protein_coding YES CCDS43018.1 ENSP00000371085 Q6UXY1 UPI00001AECDC NM_025045.5 tolerated(0.05) benign(0.012) 1/14 PROSITE_profiles:PS51338,cd07644,hmmpanther:PTHR14206,hmmpanther:PTHR14206:SF5,Pfam_domain:PF08397,Gene3D:1.20.1270.60,Superfamily_domains:SSF103657 MODERATE 1 SNV 1 PASS TTG . . 38110477 CCNB3 . GRCh38 chrX 50311039 50311039 + Missense_Mutation SNP A A G rs782470599 7316-3570 BS_6FHKKNF0 A A c.2870A>G p.Tyr957Cys p.Y957C ENST00000376042 6/13 31 19 8 17 17 0 CCNB3,missense_variant,p.Tyr957Cys,ENST00000376042,;CCNB3,missense_variant,p.Tyr957Cys,ENST00000276014,NM_033031.2;CCNB3,intron_variant,,ENST00000348603,NM_033670.2;CCNB3,intron_variant,,ENST00000376038,;CCNB3,intron_variant,,ENST00000476167,; G ENSG00000147082 ENST00000376042 Transcript missense_variant 3168/4693 2870/4188 957/1395 Y/C tAc/tGc rs782470599,COSM5956617 1 1 CCNB3 HGNC HGNC:18709 protein_coding YES CCDS14331.1 ENSP00000365210 Q8WWL7 UPI000022DC76 tolerated(0.18) benign(0) 6/13 hmmpanther:PTHR10177:SF214,hmmpanther:PTHR10177 0,1 MODERATE 1 SNV 2 0,1 PASS TAC . . 50311039 LRRIQ3 . GRCh38 chr1 74109528 74109529 + Frame_Shift_Ins INS - - T rs761276681 7316-954 BS_T5TB5NM7 - - c.732dup p.Gln245ThrfsTer7 p.Q245Tfs*7 ENST00000354431 5/8 88 75 6 44 42 0 LRRIQ3,frameshift_variant,p.Gln245ThrfsTer7,ENST00000354431,NM_001322315.1,NM_001105659.1;LRRIQ3,frameshift_variant,p.Gln245ThrfsTer7,ENST00000395089,;LRRIQ3,frameshift_variant,p.Gln137ThrfsTer7,ENST00000370909,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000468759,;LRRIQ3,frameshift_variant,p.Gln245ThrfsTer7,ENST00000415760,; T ENSG00000162620 ENST00000354431 Transcript frameshift_variant 924-925/2849 732-733/1875 244-245/624 -/X -/A rs761276681 1 -1 LRRIQ3 HGNC HGNC:28318 protein_coding YES CCDS41350.1 ENSP00000346414 A6PVS8 UPI000155D493 NM_001322315.1,NM_001105659.1 5/8 hmmpanther:PTHR10552,Gene3D:3.80.10.10 HIGH 1 insertion 5 PASS TGT . . 0.01628 0.02398 0.03162 0.01836 0.03599 0.007446 0.01161 0.02223 0.01647 74109528 COL4A4 . GRCh38 chr2 227104056 227104056 + Splice_Region DEL A A - rs750699545 7316-954 BS_T5TB5NM7 A A c.736-4del ENST00000396625 71 63 5 37 36 0 COL4A4,splice_region_variant,,ENST00000396625,NM_000092.4;COL4A4,splice_region_variant,,ENST00000643379,; - ENSG00000081052 ENST00000396625 Transcript splice_region_variant,intron_variant rs750699545,COSM3730655 1 -1 COL4A4 HGNC HGNC:2206 protein_coding YES CCDS42828.1 ENSP00000379866 P53420 UPI000013D987 NM_000092.4 12/47 0,1 LOW 1 deletion 5 0,1 1 PASS TTAA . . 0.008999 0.0023 0.00851 0.00549 0.007476 0.009519 0.0069 0.01296 0.02317 227104055 BDP1 . GRCh38 chr5 71509978 71509978 + Missense_Mutation SNP T T A rs1169846718 7316-954 BS_T5TB5NM7 T T c.2886T>A p.Asn962Lys p.N962K ENST00000358731 17/39 74 59 10 34 32 1 BDP1,missense_variant,p.Asn962Lys,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,; A ENSG00000145734 ENST00000358731 Transcript missense_variant 3149/11073 2886/7875 962/2624 N/K aaT/aaA rs1169846718 1 1 BDP1 HGNC HGNC:13652 protein_coding YES CCDS43328.1 ENSP00000351575 A6H8Y1 UPI000020CA90 NM_018429.2 tolerated(0.73) benign(0) 17/39 mobidb-lite,hmmpanther:PTHR22929 MODERATE 1 SNV 1 1 PASS ATG . . 71509978 SCAMP1 . GRCh38 chr5 78450039 78450040 + Splice_Region INS - - T rs200104831 7316-954 BS_T5TB5NM7 - - c.734+16dup ENST00000621999 96 70 15 31 27 0 SCAMP1,splice_region_variant,,ENST00000618166,NM_001290229.1;SCAMP1,splice_region_variant,,ENST00000621999,NM_004866.5;SCAMP1,intron_variant,,ENST00000320280,;SCAMP1,splice_region_variant,,ENST00000614488,; T ENSG00000085365 ENST00000621999 Transcript splice_region_variant,intron_variant rs200104831 1 1 SCAMP1 HGNC HGNC:10563 protein_coding YES CCDS75264.1 ENSP00000481022 O15126 UPI00001355F7 NM_004866.5 7/8 LOW 1 insertion 1 11 PASS AGT . . 0.006686 0.06717 0.009648 0.002055 0.0006944 0.0009303 0.002425 0.006532 0.00158 78450039 NACAD . GRCh38 chr7 45083466 45083466 + Missense_Mutation SNP G G A rs201818400 7316-954 BS_T5TB5NM7 G G c.2714C>T p.Pro905Leu p.P905L ENST00000490531 2/8 52 39 13 34 33 1 NACAD,missense_variant,p.Pro905Leu,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,; A ENSG00000136274 ENST00000490531 Transcript missense_variant 2734/4780 2714/4689 905/1562 P/L cCt/cTt rs201818400,COSM3718680 1 -1 NACAD HGNC HGNC:22196 protein_coding YES CCDS47582.1 ENSP00000420477 O15069 UPI00001D747D NM_001146334.1 tolerated(0.21) benign(0) 2/8 hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF1,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS AGG . . 0.06077 0.2529 0.1036 0.02042 0.1541 0.004857 0.04472 0.07185 0.06779 45083466 CFTR . GRCh38 chr7 117548682 117548682 + Missense_Mutation SNP C C A rs4727853 7316-954 BS_T5TB5NM7 C C c.1251C>A p.Asn417Lys p.N417K ENST00000003084 10/27 90 78 10 32 31 0 CFTR,missense_variant,p.Asn417Lys,ENST00000003084,NM_000492.3;CFTR,missense_variant,p.Asn387Lys,ENST00000426809,; A ENSG00000001626 ENST00000003084 Transcript missense_variant 1383/6132 1251/4443 417/1480 N/K aaC/aaA rs4727853,COSM4161731 1 1 CFTR HGNC HGNC:1884 protein_coding YES CCDS5773.1 ENSP00000003084 P13569 A0A024R730 UPI000013C4D4 NM_000492.3 tolerated(0.46) benign(0.001) 10/27 hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF19,TIGRFAM_domain:TIGR01271,cd03291 benign 0,1 25741868,18716917 MODERATE 1 SNV 1 1,1 1 PASS ACA . . 0.005938 0.001712 0.0002195 0.0004587 0.0002148 0.05363 0.004402 0.002405 0.0001134 117548682 CFTR . GRCh38 chr7 117548787 117548789 + In_Frame_Del DEL GTT GTT - rs1271253692 7316-954 BS_T5TB5NM7 GTT GTT c.1360_1362del p.Leu454del p.L454del ENST00000003084 10/27 85 76 8 44 44 0 CFTR,inframe_deletion,p.Leu454del,ENST00000003084,NM_000492.3;CFTR,inframe_deletion,p.Leu424del,ENST00000426809,; - ENSG00000001626 ENST00000003084 Transcript inframe_deletion 1488-1490/6132 1356-1358/4443 452-453/1480 QL/Q caGTTg/cag rs1271253692,COSM1579672 1 1 CFTR HGNC HGNC:1884 protein_coding YES CCDS5773.1 ENSP00000003084 P13569 A0A024R730 UPI000013C4D4 NM_000492.3 10/27 Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF19,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01271,cd03291 0,1 MODERATE 1 deletion 1 4 0,1 1 PASS CAGTTG . . 4.237e-06 9.474e-06 117548786 OR5D16 . GRCh38 chr11 55839235 55839235 + Missense_Mutation SNP G G A rs148923372 7316-954 BS_T5TB5NM7 G G c.484G>A p.Ala162Thr p.A162T ENST00000378396 1/1 90 80 8 36 35 0 OR5D16,missense_variant,p.Ala162Thr,ENST00000378396,NM_001005496.1; A ENSG00000205029 ENST00000378396 Transcript missense_variant 484/987 484/987 162/328 A/T Gcg/Acg rs148923372,COSM928128 1 1 OR5D16 HGNC HGNC:15283 protein_coding YES CCDS31512.1 ENSP00000367649 Q8NGK9 UPI0000046198 NM_001005496.1 tolerated(1) benign(0.005) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,cd15410,hmmpanther:PTHR26452:SF243,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 0.0002 0.001 0.00128 0,1 MODERATE 1 SNV 0,1 PASS CGC . . 0.0003296 8.95e-05 5.805e-05 0.0006646 0.0005488 55839235 KRTAP4-16 . GRCh38 chr17 41101746 41101746 + Missense_Mutation SNP T T G rs1215386394 7316-954 BS_T5TB5NM7 T T c.464A>C p.His155Pro p.H155P ENST00000440582 1/1 50 34 11 29 25 1 KRTAP4-16,missense_variant,p.His155Pro,ENST00000440582,;KRTAP4-8,upstream_gene_variant,,ENST00000318329,;KRTAP4-8,upstream_gene_variant,,ENST00000333822,NM_031960.2;KRTAP4-9,upstream_gene_variant,,ENST00000391415,NM_001146041.1;KRTAP4-9,upstream_gene_variant,,ENST00000617453,; G ENSG00000241241 ENST00000440582 Transcript missense_variant 464/708 464/708 155/235 H/P cAc/cCc rs1215386394 1 -1 KRTAP4-16 HGNC HGNC:18921 protein_coding YES ENSP00000411198 G5E9R7 UPI0000E59F68 deleterious(0) unknown(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF37 MODERATE 1 SNV PASS GTG . . 2.656e-05 9.984e-05 3.454e-05 4.383e-05 41101746 REXO1 . GRCh38 chr19 1827060 1827060 + Missense_Mutation SNP A A G rs926016413 7316-954 BS_T5TB5NM7 A A c.1729T>C p.Ser577Pro p.S577P ENST00000170168 2/16 76 49 19 29 26 2 REXO1,missense_variant,p.Ser577Pro,ENST00000170168,NM_020695.3;AC012615.6,downstream_gene_variant,,ENST00000587741,;AC012615.6,downstream_gene_variant,,ENST00000590531,;AC012615.6,downstream_gene_variant,,ENST00000593201,;REXO1,downstream_gene_variant,,ENST00000587524,;AC012615.6,downstream_gene_variant,,ENST00000590823,;,regulatory_region_variant,,ENSR00000105752,;,TF_binding_site_variant,,MA0162.2,;,TF_binding_site_variant,,MA0341.1,;,TF_binding_site_variant,,MA0366.1,;,TF_binding_site_variant,,PB0010.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,;,TF_binding_site_variant,,MA0528.1,; G ENSG00000079313 ENST00000170168 Transcript missense_variant 1834/4591 1729/3666 577/1221 S/P Tcc/Ccc rs926016413,COSM6335043 1 -1 REXO1 HGNC HGNC:24616 protein_coding YES CCDS32866.1 ENSP00000170168 Q8N1G1 UPI0000202F63 NM_020695.3 tolerated(0.42) benign(0) 2/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF62 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.001645 0.0005777 0.0007566 0.001513 0.002195 0.004127 0.001907 0.002176 0.0003626 1827060 AC011498.5 . GRCh38 chr19 4621242 4621243 + Splice_Region INS - - T novel 7316-954 BS_T5TB5NM7 - - n.43+7dup ENST00000592027 63 45 9 40 35 0 AC011498.5,splice_region_variant,,ENST00000592027,; T ENSG00000267408 ENST00000592027 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 1 AC011498.5 Clone_based_ensembl_gene unprocessed_pseudogene YES 1/2 LOW 1 insertion 1 PASS TCT . . 4621242 ARMCX4 . GRCh38 chrX 101491302 101491302 + Missense_Mutation SNP A A G rs957424940 7316-954 BS_T5TB5NM7 A A c.2713A>G p.Met905Val p.M905V ENST00000423738 2/2 89 77 8 42 40 0 ARMCX4,missense_variant,p.Met905Val,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000455331,; G ENSG00000196440 ENST00000423738 Transcript missense_variant 2915/7424 2713/6873 905/2290 M/V Atg/Gtg rs957424940 1 1 ARMCX4 HGNC HGNC:28615 protein_coding YES CCDS59170.1 ENSP00000404304 F8W8Y7 UPI000442CF06 NM_001256155.2 tolerated(0.17) benign(0) 2/2 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21 MODERATE 1 SNV 5 PASS AAT . . 101491302 MT-ND4 . GRCh38 chrM 11301 11301 + Missense_Mutation SNP T T C 7316-954 BS_T5TB5NM7 T T c.542T>C p.Leu181Pro p.L181P ENST00000361381 1/1 26620 25437 609 5541 5472 11 MT-ND4,missense_variant,p.Leu181Pro,ENST00000361381,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,; C ENSG00000198886 ENST00000361381 Transcript missense_variant 542/1378 542/1378 181/459 L/P cTc/cCc COSM1155504 1 1 MT-ND4 HGNC HGNC:7459 protein_coding YES ENSP00000354961 P03905 H9EC08 UPI0000000AA8 deleterious_low_confidence(0.01) probably_damaging(0.998) 1/1 PDB-ENSP_mappings:5xtc.r,PDB-ENSP_mappings:5xtd.r,Pfam_domain:PF00361,hmmpanther:PTHR43507,hmmpanther:PTHR43507:SF1,TIGRFAM_domain:TIGR01972,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS CTC . . 11301 CRYBG2 . GRCh38 chr1 26345228 26345228 + Missense_Mutation SNP C C T rs201245727 7316-119 BS_4RT8H37A C C c.2402G>A p.Arg801Gln p.R801Q ENST00000475866 4/22 77 65 12 77 75 1 CRYBG2,missense_variant,p.Arg801Gln,ENST00000475866,;CRYBG2,missense_variant,p.Arg477Gln,ENST00000308182,NM_001039775.3;CRYBG2,missense_variant,p.Arg477Gln,ENST00000527815,;CRYBG2,downstream_gene_variant,,ENST00000640960,;CRYBG2,intron_variant,,ENST00000374207,; T ENSG00000176092 ENST00000475866 Transcript missense_variant 2433/6259 2402/5958 801/1985 R/Q cGg/cAg rs201245727 1 -1 CRYBG2 HGNC HGNC:17295 protein_coding YES ENSP00000428746 E7ET48 UPI000D18D1C8 tolerated_low_confidence(1) benign(0) 4/22 hmmpanther:PTHR11818:SF50,hmmpanther:PTHR11818,mobidb-lite MODERATE 1 SNV 4 PASS CCG . . 0.001574 0.00289 0.001905 0.001118 0.0005325 0.0004335 0.001935 0.002371 0.0007809 26345228 ZNF326 . GRCh38 chr1 90017456 90017456 + Frame_Shift_Del DEL T T - novel 7316-119 BS_4RT8H37A T T c.1070del p.Leu357CysfsTer6 p.L357Cfs*6 ENST00000340281 8/12 80 67 7 53 51 0 ZNF326,frameshift_variant,p.Leu268CysfsTer6,ENST00000370447,NM_181781.3,NM_001320185.1;ZNF326,frameshift_variant,p.Leu357CysfsTer6,ENST00000340281,NM_182976.3;ZNF326,3_prime_UTR_variant,,ENST00000394583,; - ENSG00000162664 ENST00000340281 Transcript frameshift_variant 1209/2729 1066/1749 356/582 F/X Ttt/tt 1 1 ZNF326 HGNC HGNC:14104 protein_coding YES CCDS727.1 ENSP00000340796 Q5BKZ1 UPI0000160AB2 NM_182976.3 8/12 Pfam_domain:PF04988,hmmpanther:PTHR12190,hmmpanther:PTHR12190:SF1 HIGH 1 deletion 1 4 PASS AGTT . . 90017455 ANKRD36C . GRCh38 chr2 95944672 95944672 + Missense_Mutation SNP G G T rs78473403 7316-119 BS_4RT8H37A G G c.1446C>A p.Asp482Glu p.D482E ENST00000456556 19/67 123 93 22 108 102 2 ANKRD36C,missense_variant,p.Asp482Glu,ENST00000456556,NM_001310154.1;ANKRD36C,5_prime_UTR_variant,,ENST00000295246,;ANKRD36C,missense_variant,p.Asp11Glu,ENST00000534304,;ANKRD36C,missense_variant,p.Asp482Glu,ENST00000528268,; T ENSG00000174501 ENST00000456556 Transcript missense_variant 1531/5428 1446/5337 482/1778 D/E gaC/gaA rs78473403,COSM5764625 1 -1 ANKRD36C HGNC HGNC:32946 protein_coding YES ENSP00000403302 Q5JPF3 UPI00016620F5 NM_001310154.1 tolerated_low_confidence(0.47) benign(0.096) 19/67 hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1 0,1 MODERATE 1 SNV 5 0,1 PASS TGT . . 0.08787 0.1352 0.06293 0.0217 0.1136 0.01197 0.1245 0.07595 0.0597 95944672 ANKRD36 . GRCh38 chr2 97142657 97142657 + Missense_Mutation SNP C C G rs62153044 7316-119 BS_4RT8H37A C C c.817C>G p.Pro273Ala p.P273A ENST00000420699 7/76 146 114 32 89 87 2 ANKRD36,missense_variant,p.Pro273Ala,ENST00000420699,NM_001164315.1;ANKRD36,missense_variant,p.Pro273Ala,ENST00000461153,;ANKRD36,missense_variant,p.Pro273Ala,ENST00000620383,;ANKRD36,missense_variant,p.Pro273Ala,ENST00000639293,; G ENSG00000135976 ENST00000420699 Transcript missense_variant 1061/6269 817/5826 273/1941 P/A Cca/Gca rs62153044,COSM4134160,COSM4134159 1 1 ANKRD36 HGNC HGNC:24079 protein_coding YES CCDS54379.1 ENSP00000391950 A6QL64 UPI0001B23BB4 NM_001164315.1 deleterious(0.03) benign(0.07) 7/76 mobidb-lite,hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176,hmmpanther:PTHR24176,Gene3D:1.25.40.20 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS ACC . . 0.474 0.4848 0.4612 0.4371 0.4719 0.4867 0.4762 0.4708 0.4743 97142657 ANKRD36 . GRCh38 chr2 97142758 97142758 + Splice_Region SNP C C T rs62153045 7316-119 BS_4RT8H37A C C c.829-5C>T ENST00000420699 94 79 14 93 92 0 ANKRD36,splice_region_variant,,ENST00000420699,NM_001164315.1;ANKRD36,splice_region_variant,,ENST00000461153,;ANKRD36,intron_variant,,ENST00000620383,;ANKRD36,intron_variant,,ENST00000639293,; T ENSG00000135976 ENST00000420699 Transcript splice_region_variant,intron_variant rs62153045,COSM4414895,COSM4414894 1 1 ANKRD36 HGNC HGNC:24079 protein_coding YES CCDS54379.1 ENSP00000391950 A6QL64 UPI0001B23BB4 NM_001164315.1 7/75 0,1,1 LOW 1 SNV 5 0,1,1 PASS ACT . . 0.4677 0.4294 0.4766 0.4774 0.4532 0.4117 0.4745 0.4652 0.4891 97142758 HLA-DQA2 . GRCh38 chr6 32745788 32745788 + Splice_Region SNP C C T rs35207778 7316-119 BS_4RT8H37A C C c.332-3C>T ENST00000374940 89 82 6 60 60 0 HLA-DQA2,splice_region_variant,,ENST00000374940,NM_020056.4;MIR3135B,downstream_gene_variant,,ENST00000581098,; T ENSG00000237541 ENST00000374940 Transcript splice_region_variant,intron_variant rs35207778 1 1 HLA-DQA2 HGNC HGNC:4943 protein_coding YES CCDS4753.1 ENSP00000364076 P01906 Q76NI6 UPI0000001086 NM_020056.4 2/4 LOW 1 SNV 1 PASS ACA . . 0.000379 6.433e-05 0.0002229 4.684e-05 0.0007372 0.0003946 0.0001399 32745788 TRBV7-6 . GRCh38 chr7 142492188 142492188 + Missense_Mutation SNP T T G rs1426835332 7316-119 BS_4RT8H37A T T c.12T>G p.Ser4Arg p.S4R ENST00000390374 1/2 77 69 8 52 51 0 TRBV7-6,missense_variant,p.Ser4Arg,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,; G ENSG00000211727 ENST00000390374 Transcript missense_variant 57/392 12/347 4/115 S/R agT/agG rs1426835332 1 1 TRBV7-6 HGNC HGNC:12240 TR_V_gene YES ENSP00000374897 A0A1B0GX31 UPI00053BD5EC tolerated(1) benign(0) 1/2 MODERATE 1 SNV PASS GTC . . 142492188 KMT2C . GRCh38 chr7 152229936 152229936 + Missense_Mutation SNP C C A rs28522267 7316-119 BS_4RT8H37A C C c.2963G>T p.Cys988Phe p.C988F ENST00000262189 18/59 113 80 32 84 82 2 KMT2C,missense_variant,p.Cys988Phe,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Cys988Phe,ENST00000355193,;KMT2C,missense_variant,p.Cys144Phe,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,; A ENSG00000055609 ENST00000262189 Transcript missense_variant 3182/16862 2963/14736 988/4911 C/F tGt/tTt rs28522267,COSM150427,COSM150426 1 -1 KMT2C HGNC HGNC:13726 protein_coding YES CCDS5931.1 ENSP00000262189 Q8NEZ4 UPI0000141B9F NM_170606.2 deleterious(0) probably_damaging(0.998) 18/59 Gene3D:3.30.40.10,PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903,cd15596 benign 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS ACA . . 0.1852 0.1527 0.2309 0.1432 0.2282 0.2877 0.1637 0.2093 0.1179 152229936 CNTNAP3 . GRCh38 chr9 39088492 39088492 + Missense_Mutation SNP T T A rs1758499 7316-119 BS_4RT8H37A T T c.3151A>T p.Thr1051Ser p.T1051S ENST00000297668 19/24 74 55 18 47 47 0 CNTNAP3,missense_variant,p.Thr1051Ser,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Thr970Ser,ENST00000377656,;CNTNAP3,missense_variant,p.Thr963Ser,ENST00000358144,;CNTNAP3,upstream_gene_variant,,ENST00000477002,;CNTNAP3,upstream_gene_variant,,ENST00000493965,; A ENSG00000106714 ENST00000297668 Transcript missense_variant 3225/5064 3151/3867 1051/1288 T/S Act/Tct rs1758499 1 -1 CNTNAP3 HGNC HGNC:13834 protein_coding YES CCDS6616.1 ENSP00000297668 Q9BZ76 UPI000013E43B NM_033655.3 tolerated(0.68) benign(0.06) 19/24 PROSITE_profiles:PS50025,cd00110,hmmpanther:PTHR43925,hmmpanther:PTHR43925:SF6,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899 MODERATE 1 SNV 1 PASS GTT . . 39088492 SACS . GRCh38 chr13 23337031 23337031 + Frame_Shift_Del DEL A A - novel 7316-119 BS_4RT8H37A A A c.6845del p.Leu2282TrpfsTer13 p.L2282Wfs*13 ENST00000382292 10/10 117 105 5 72 72 0 SACS,frameshift_variant,p.Leu2282TrpfsTer13,ENST00000382292,NM_014363.5,NM_001278055.1;SACS,frameshift_variant,p.Leu1532TrpfsTer13,ENST00000402364,;SACS,intron_variant,,ENST00000423156,;SACS,intron_variant,,ENST00000455470,; - ENSG00000151835 ENST00000382292 Transcript frameshift_variant 7460/15665 6845/13740 2282/4579 L/X tTg/tg 1 -1 SACS HGNC HGNC:10519 protein_coding YES CCDS9300.2 ENSP00000371729 Q9NZJ4 UPI000047039D NM_014363.5,NM_001278055.1 10/10 hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF37 HIGH 1 deletion 5 1 PASS CCAA . . 23337030 ACSF3 . GRCh38 chr16 89112086 89112086 + Splice_Region SNP T T C rs76096111 7316-119 BS_4RT8H37A T T c.823-6T>C ENST00000614302 82 71 9 67 67 0 ACSF3,splice_region_variant,,ENST00000317447,;ACSF3,splice_region_variant,,ENST00000378345,NM_001284316.1;ACSF3,splice_region_variant,,ENST00000406948,;ACSF3,splice_region_variant,,ENST00000537895,;ACSF3,splice_region_variant,,ENST00000538340,;ACSF3,splice_region_variant,,ENST00000540697,;ACSF3,splice_region_variant,,ENST00000543676,;ACSF3,splice_region_variant,,ENST00000544543,;ACSF3,splice_region_variant,,ENST00000614302,NM_001127214.3,NM_001243279.2,NM_174917.4;AC135782.3,downstream_gene_variant,,ENST00000562782,;ACSF3,upstream_gene_variant,,ENST00000562204,;ACSF3,splice_region_variant,,ENST00000542688,; C ENSG00000176715 ENST00000614302 Transcript splice_region_variant,intron_variant rs76096111,COSM1609786 1 1 ACSF3 HGNC HGNC:27288 protein_coding YES CCDS10974.1 ENSP00000479130 Q4G176 UPI00001AF19E NM_001127214.3,NM_001243279.2,NM_174917.4 4/10 benign 0,1 LOW 1 SNV 5 0,1 1 PASS TTC . . 5.824e-06 0.000118 89112086 MIB1 . GRCh38 chr18 21815803 21815803 + Missense_Mutation SNP C C A novel 7316-119 BS_4RT8H37A C C c.1667C>A p.Pro556His p.P556H ENST00000261537 11/21 77 70 5 86 85 0 MIB1,missense_variant,p.Pro556His,ENST00000261537,NM_020774.3;RF00045,upstream_gene_variant,,ENST00000363107,;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;MIB1,non_coding_transcript_exon_variant,,ENST00000577749,;MIB1,non_coding_transcript_exon_variant,,ENST00000578260,; A ENSG00000101752 ENST00000261537 Transcript missense_variant 1931/9576 1667/3021 556/1006 P/H cCc/cAc 1 1 MIB1 HGNC HGNC:21086 protein_coding YES CCDS11871.1 ENSP00000261537 Q86YT6 UPI000000D833 NM_020774.3 deleterious(0.01) probably_damaging(0.994) 11/21 cd00204,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24202:SF52,hmmpanther:PTHR24202 MODERATE 1 SNV 1 1 PASS CCC . . 21815803 ZNF814 . GRCh38 chr19 57874380 57874380 + Missense_Mutation SNP G G A rs145250945 7316-119 BS_4RT8H37A G G c.1010C>T p.Ala337Val p.A337V ENST00000435989 3/3 51 37 14 83 83 0 ZNF814,missense_variant,p.Ala337Val,ENST00000435989,NM_001144989.1;ZNF814,intron_variant,,ENST00000595048,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000614383,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,upstream_gene_variant,,ENST00000594159,;AC010326.2,downstream_gene_variant,,ENST00000602124,; A ENSG00000204514 ENST00000435989 Transcript missense_variant 1245/3146 1010/2568 337/855 A/V gCt/gTt rs145250945,COSM1129685 1 -1 ZNF814 HGNC HGNC:33258 protein_coding YES CCDS46212.1 ENSP00000410545 B7Z6K7 UPI0001662BAD NM_001144989.1 tolerated(0.06) benign(0.017) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF619,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS AGC . . 0.06252 0.05321 0.04592 0.03846 0.05119 0.07115 0.06781 0.0485 0.06509 57874380 LINC00159 . GRCh38 chr21 32156410 32156410 + Splice_Region DEL T T - novel 7316-119 BS_4RT8H37A T T n.132del ENST00000414877 2/4 81 70 5 58 52 0 LINC00159,splice_region_variant,,ENST00000414877,; - ENSG00000230323 ENST00000414877 Transcript splice_region_variant,non_coding_transcript_exon_variant 132/428 1 -1 LINC00159 HGNC HGNC:1285 lincRNA 2/4 LOW 1 deletion 4 PASS AGTT . . 32156409 ASB9 . GRCh38 chrX 15236603 15236604 + Splice_Region INS - - A rs758049492 7316-119 BS_4RT8H37A - - c.508-4dup ENST00000477346 42 25 10 30 23 0 ASB9,splice_region_variant,,ENST00000477346,; A ENSG00000102048 ENST00000477346 Transcript splice_region_variant,intron_variant rs758049492 1 -1 ASB9 HGNC HGNC:17184 protein_coding ENSP00000473542 R4GN94 UPI0002B832F8 4/5 0.0105 0.009 0.0115 0.0079 0.0131 0.0111 LOW 1 insertion 2 PASS TCA . . 15236603 SLC25A5 . GRCh38 chrX 119470021 119470021 + Missense_Mutation SNP G G A rs199678822 7316-119 BS_4RT8H37A G G c.472G>A p.Gly158Ser p.G158S ENST00000317881 2/4 44 38 6 40 39 0 SLC25A5,missense_variant,p.Gly158Ser,ENST00000317881,NM_001152.4;SLC25A5-AS1,upstream_gene_variant,,ENST00000445759,;SLC25A5-AS1,upstream_gene_variant,,ENST00000446986,;SLC25A5-AS1,upstream_gene_variant,,ENST00000609227,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000460013,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000475354,;SLC25A5,upstream_gene_variant,,ENST00000463551,;SLC25A5-AS1,upstream_gene_variant,,ENST00000395539,; A ENSG00000005022 ENST00000317881 Transcript missense_variant 588/1274 472/897 158/298 G/S Ggt/Agt rs199678822,COSM76461 1 1 SLC25A5 HGNC HGNC:10991 protein_coding YES CCDS14578.1 ENSP00000360671 P05141 UPI000013C4ED NM_001152.4 tolerated(0.37) benign(0.041) 2/4 PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF612,Pfam_domain:PF00153,Gene3D:1.50.40.10,Superfamily_domains:SSF103506 0,1 MODERATE 1 SNV 1 0,1 PASS CGG . . 5.69e-06 1.269e-05 119470021 AL669831.3 . GRCh38 chr1 612866 612867 + Splice_Region INS - - A rs879346974 7316-2899 BS_HHJZ05XC - - n.163-3dup ENST00000641296 31 18 10 14 12 0 AL669831.3,splice_region_variant,,ENST00000641296,;AL669831.3,intron_variant,,ENST00000419394,;AL669831.3,intron_variant,,ENST00000440196,;AL669831.3,intron_variant,,ENST00000440200,;AL669831.3,intron_variant,,ENST00000634337,;AL669831.3,intron_variant,,ENST00000635509,;AL669831.3,upstream_gene_variant,,ENST00000634833,; A ENSG00000230021 ENST00000641296 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs879346974 1 -1 AL669831.3 Clone_based_ensembl_gene processed_transcript 2/5 LOW insertion PASS CTA . . 612866 PDE4DIP . GRCh38 chr1 148870282 148870283 + Frame_Shift_Ins INS - - T novel 7316-2899 BS_HHJZ05XC - - c.355dup p.Ser119PhefsTer38 p.S119Ffs*38 ENST00000616206 4/4 30 19 6 11 9 0 PDE4DIP,frameshift_variant,p.Ser119PhefsTer38,ENST00000616206,;PDE4DIP,intron_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000530472,NM_022359.5;PDE4DIP,intron_variant,,ENST00000533259,;PDE4DIP,intron_variant,,ENST00000585156,;PDE4DIP,intron_variant,,ENST00000613995,;PDE4DIP,intron_variant,,ENST00000617454,;PDE4DIP,intron_variant,,ENST00000618462,NM_001198832.2;PDE4DIP,intron_variant,,ENST00000620605,;PDE4DIP,downstream_gene_variant,,ENST00000618504,;PDE4DIP,intron_variant,,ENST00000617527,;PDE4DIP,downstream_gene_variant,,ENST00000610852,;PDE4DIP,downstream_gene_variant,,ENST00000617248,;PDE4DIP,intron_variant,,ENST00000617031,;PDE4DIP,intron_variant,,ENST00000619981,;PDE4DIP,intron_variant,,ENST00000621371,; T ENSG00000178104 ENST00000616206 Transcript frameshift_variant 505-506/874 343-344/474 115/157 V/VX gtt/gTtt 1 1 PDE4DIP HGNC HGNC:15580 protein_coding ENSP00000483081 A0A087X041 UPI0001F78546 4/4 Low_complexity_(Seg):seg HIGH insertion 2 12 1 PASS TGT . . 148870282 RPTN . GRCh38 chr1 152156639 152156639 + Missense_Mutation SNP T T C rs113327860 7316-2899 BS_HHJZ05XC T T c.460A>G p.Arg154Gly p.R154G ENST00000316073 3/3 52 46 6 27 27 0 RPTN,missense_variant,p.Arg154Gly,ENST00000316073,NM_001122965.1;PUDPP2,intron_variant,,ENST00000628080,; C ENSG00000215853 ENST00000316073 Transcript missense_variant 525/3569 460/2355 154/784 R/G Aga/Gga rs113327860,COSM1498488 1 -1 RPTN HGNC HGNC:26809 protein_coding YES CCDS41397.1 ENSP00000317895 Q6XPR3 UPI00002371E2 NM_001122965.1 deleterious(0) benign(0.276) 3/3 mobidb-lite,hmmpanther:PTHR22571:SF29,hmmpanther:PTHR22571 0.0009566 0.002792 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 6.64e-06 5.668e-05 152156639 RHOU . GRCh38 chr1 228735770 228735770 + Missense_Mutation SNP T T G novel 7316-2899 BS_HHJZ05XC T T c.28T>G p.Phe10Val p.F10V ENST00000366691 1/3 82 70 9 48 47 1 RHOU,missense_variant,p.Phe10Val,ENST00000366691,NM_021205.5;,regulatory_region_variant,,ENSR00000021350,; G ENSG00000116574 ENST00000366691 Transcript missense_variant 694/4372 28/777 10/258 F/V Ttc/Gtc 1 1 RHOU HGNC HGNC:17794 protein_coding YES CCDS1575.1 ENSP00000355652 Q7L0Q8 A0A024R3Q7 UPI0000073CDF NM_021205.5 tolerated_low_confidence(0.45) benign(0) 1/3 mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 228735770 CRIM1 . GRCh38 chr2 36356504 36356504 + Missense_Mutation SNP A A C novel 7316-2899 BS_HHJZ05XC A A c.212A>C p.Asn71Thr p.N71T ENST00000280527 1/17 75 68 7 36 35 0 CRIM1,missense_variant,p.Asn71Thr,ENST00000280527,NM_016441.2;CRIM1,missense_variant,p.Asn12Thr,ENST00000428774,;CRIM1,missense_variant,p.Asn21Thr,ENST00000426856,;AC009414.2,upstream_gene_variant,,ENST00000565283,;,regulatory_region_variant,,ENSR00000115221,; C ENSG00000150938 ENST00000280527 Transcript missense_variant 579/5912 212/3111 71/1036 N/T aAc/aCc 1 1 CRIM1 HGNC HGNC:2359 protein_coding YES CCDS1783.1 ENSP00000280527 Q9NZV1 UPI000004C628 NM_016441.2 tolerated(0.24) benign(0.438) 1/17 Pfam_domain:PF00219,PROSITE_profiles:PS51323,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF268,SMART_domains:SM00121,Superfamily_domains:SSF57184 MODERATE 1 SNV 1 1 PASS AAC . . 36356504 USP40 . GRCh38 chr2 233523169 233523169 + Splice_Site SNP C C T rs1262937275 7316-2899 BS_HHJZ05XC C C c.2234+1G>A p.X745_splice ENST00000450966 51 31 20 36 36 0 USP40,splice_donor_variant,,ENST00000251722,;USP40,splice_donor_variant,,ENST00000427112,;USP40,splice_donor_variant,,ENST00000450966,NM_018218.2;USP40,splice_donor_variant,,ENST00000452724,;USP40,downstream_gene_variant,,ENST00000485943,; T ENSG00000085982 ENST00000450966 Transcript splice_donor_variant rs1262937275 1 -1 USP40 HGNC HGNC:20069 protein_coding YES CCDS46547.1 ENSP00000415434 Q9NVE5 UPI0000232F06 NM_018218.2 15/30 HIGH 1 SNV 1 PASS ACC . . 4.122e-06 3.338e-05 233523169 TRAF3IP1 . GRCh38 chr2 238397683 238397683 + Splice_Region SNP G G A rs147792234 7316-2899 BS_HHJZ05XC G G c.1910+4G>A ENST00000373327 55 42 8 31 30 0 TRAF3IP1,splice_region_variant,,ENST00000373327,NM_015650.3;TRAF3IP1,splice_region_variant,,ENST00000391993,NM_001139490.1;TRAF3IP1,splice_region_variant,,ENST00000483951,;TRAF3IP1,downstream_gene_variant,,ENST00000462122,;,regulatory_region_variant,,ENSR00000132827,; A ENSG00000204104 ENST00000373327 Transcript splice_region_variant,intron_variant rs147792234 1 1 TRAF3IP1 HGNC HGNC:17861 protein_coding YES CCDS33415.1 ENSP00000362424 Q8TDR0 UPI0000070E5D NM_015650.3 16/16 LOW 1 SNV 1 1 PASS GGG . . 8.989e-05 7.177e-05 0.0002433 0.0001054 0.0001785 2.879e-05 0.0001656 238397683 MICA . GRCh38 chr6 31411320 31411320 + Missense_Mutation SNP C C T rs757679954 7316-2899 BS_HHJZ05XC C C c.574C>T p.Arg192Trp p.R192W ENST00000449934 3/6 63 47 16 26 26 0 MICA,missense_variant,p.Arg95Trp,ENST00000616296,NM_001289153.1,NM_001289154.1,NM_001289152.1;MICA,missense_variant,p.Arg192Trp,ENST00000449934,NM_001177519.2;MICA,intron_variant,,ENST00000421350,;HCP5,intron_variant,,ENST00000414046,; T ENSG00000204520 ENST00000449934 Transcript missense_variant 628/1386 574/999 192/332 R/W Cgg/Tgg rs757679954 1 1 MICA HGNC HGNC:7090 protein_coding YES CCDS56412.1 ENSP00000413079 Q96QC4 UPI000006F0B0 NM_001177519.2 tolerated(0.1) benign(0.036) 3/6 hmmpanther:PTHR16675:SF138,hmmpanther:PTHR16675,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452 MODERATE 1 SNV 1 PASS ACG . . 1.912e-05 3.522e-05 6.969e-05 1.078e-05 3.728e-05 31411320 SOGA3 . GRCh38 chr6 127515930 127515930 + Missense_Mutation SNP T T G novel 7316-2899 BS_HHJZ05XC T T c.685A>C p.Thr229Pro p.T229P ENST00000525778 2/7 73 62 10 44 42 0 SOGA3,missense_variant,p.Thr229Pro,ENST00000525778,NM_001012279.2;SOGA3,missense_variant,p.Thr229Pro,ENST00000465909,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;AL096711.2,missense_variant,p.Thr229Pro,ENST00000481848,;,regulatory_region_variant,,ENSR00000202443,; G ENSG00000214338 ENST00000525778 Transcript missense_variant 1431/4077 685/2844 229/947 T/P Acc/Ccc 1 -1 SOGA3 HGNC HGNC:21494 protein_coding YES CCDS43505.1 ENSP00000434570 Q5TF21 UPI0000419273 NM_001012279.2 tolerated_low_confidence(1) benign(0) 2/7 hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTT . . 127515930 SOGA3 . GRCh38 chr6 127516120 127516120 + Missense_Mutation SNP T T G novel 7316-2899 BS_HHJZ05XC T T c.495A>C p.Glu165Asp p.E165D ENST00000525778 2/7 86 62 15 35 35 0 SOGA3,missense_variant,p.Glu165Asp,ENST00000525778,NM_001012279.2;SOGA3,missense_variant,p.Glu165Asp,ENST00000465909,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;AL096711.2,missense_variant,p.Glu165Asp,ENST00000481848,;,regulatory_region_variant,,ENSR00000202443,; G ENSG00000214338 ENST00000525778 Transcript missense_variant 1241/4077 495/2844 165/947 E/D gaA/gaC 1 -1 SOGA3 HGNC HGNC:21494 protein_coding YES CCDS43505.1 ENSP00000434570 Q5TF21 UPI0000419273 NM_001012279.2 tolerated_low_confidence(0.07) benign(0.023) 2/7 hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTT . . 127516120 FNDC1 . GRCh38 chr6 159266177 159266185 + In_Frame_Del DEL GAAAGTTCG GAAAGTTCG - novel 7316-2899 BS_HHJZ05XC GAAAGTTCG GAAAGTTCG c.5378_5386del p.Arg1793_Val1796delinsLeu p.R1793_V1796delinsL ENST00000297267 21/23 45 26 19 33 33 0 FNDC1,inframe_deletion,p.Arg1793_Val1796delinsLeu,ENST00000297267,NM_032532.2;FNDC1,inframe_deletion,p.Arg1689_Val1692delinsLeu,ENST00000329629,; - ENSG00000164694 ENST00000297267 Transcript inframe_deletion 5578-5586/6552 5378-5386/5685 1793-1796/1894 RKFV/L cGAAAGTTCGtg/ctg 1 1 FNDC1 HGNC HGNC:21184 protein_coding YES CCDS47512.1 ENSP00000297267 Q4ZHG4 UPI0000579B80 NM_032532.2 21/23 hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8 MODERATE 1 deletion 1 PASS TCGAAAGTTCGT . . 159266176 ABCA2 . GRCh38 chr9 137010271 137010271 + Missense_Mutation SNP G G A novel 7316-2899 BS_HHJZ05XC G G c.6275C>T p.Ala2092Val p.A2092V ENST00000341511 41/49 79 66 10 39 39 0 ABCA2,missense_variant,p.Ala2092Val,ENST00000265662,;ABCA2,missense_variant,p.Ala2091Val,ENST00000371605,;ABCA2,missense_variant,p.Ala2122Val,ENST00000614293,;ABCA2,missense_variant,p.Ala2092Val,ENST00000341511,NM_212533.2,NM_001606.4;ABCA2,upstream_gene_variant,,ENST00000490486,;ABCA2,non_coding_transcript_exon_variant,,ENST00000437791,;ABCA2,upstream_gene_variant,,ENST00000464157,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,3_prime_UTR_variant,,ENST00000479446,;ABCA2,non_coding_transcript_exon_variant,,ENST00000459850,;ABCA2,intron_variant,,ENST00000463603,;ABCA2,downstream_gene_variant,,ENST00000431584,;ABCA2,upstream_gene_variant,,ENST00000464520,;ABCA2,downstream_gene_variant,,ENST00000488535,; A ENSG00000107331 ENST00000341511 Transcript missense_variant 6325/8063 6275/7311 2092/2436 A/V gCg/gTg 1 -1 ABCA2 HGNC HGNC:32 protein_coding YES CCDS43909.1 ENSP00000344155 Q9BZC7 UPI0000049F97 NM_212533.2,NM_001606.4 deleterious(0) probably_damaging(1) 41/49 PROSITE_profiles:PS50893,cd03263,hmmpanther:PTHR19229:SF36,hmmpanther:PTHR19229,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540 MODERATE 1 SNV 5 PASS CGC . . 137010271 EHMT1 . GRCh38 chr9 137817482 137817482 + Missense_Mutation SNP G G A rs770731320 7316-2899 BS_HHJZ05XC G G c.3418G>A p.Val1140Met p.V1140M ENST00000460843 24/27 83 58 24 31 30 0 EHMT1,missense_variant,p.Val1140Met,ENST00000460843,NM_024757.4,NM_001354263.1;EHMT1,missense_variant,p.Val1109Met,ENST00000637161,;EHMT1,downstream_gene_variant,,ENST00000636027,;EHMT1,non_coding_transcript_exon_variant,,ENST00000637784,;EHMT1,downstream_gene_variant,,ENST00000488242,;EHMT1,downstream_gene_variant,,ENST00000635741,;EHMT1,downstream_gene_variant,,ENST00000635987,;EHMT1,downstream_gene_variant,,ENST00000636463,;EHMT1,upstream_gene_variant,,ENST00000636472,;EHMT1,upstream_gene_variant,,ENST00000636526,;EHMT1,downstream_gene_variant,,ENST00000637407,;EHMT1,missense_variant,p.Val759Met,ENST00000462942,;EHMT1,3_prime_UTR_variant,,ENST00000637261,;EHMT1,3_prime_UTR_variant,,ENST00000637891,;EHMT1,non_coding_transcript_exon_variant,,ENST00000475564,;EHMT1,non_coding_transcript_exon_variant,,ENST00000494249,;EHMT1,non_coding_transcript_exon_variant,,ENST00000637748,;EHMT1,downstream_gene_variant,,ENST00000483653,;EHMT1,downstream_gene_variant,,ENST00000486164,; A ENSG00000181090 ENST00000460843 Transcript missense_variant 3484/5137 3418/3897 1140/1298 V/M Gtg/Atg rs770731320,COSM3906187,COSM3906188 1 1 EHMT1 HGNC HGNC:24650 protein_coding YES CCDS7050.2 ENSP00000417980 Q9H9B1 UPI000194EC2D NM_024757.4,NM_001354263.1 deleterious(0) probably_damaging(0.997) 24/27 Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF364,SMART_domains:SM00317,Superfamily_domains:SSF82199 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS CGT . . 1.626e-05 5.957e-05 5.798e-05 8.975e-06 137817482 FAM186A . GRCh38 chr12 50352497 50352497 + Missense_Mutation SNP C C G rs1162120387 7316-2899 BS_HHJZ05XC C C c.4335G>C p.Met1445Ile p.M1445I ENST00000327337 4/8 60 42 13 49 46 1 FAM186A,missense_variant,p.Met1445Ile,ENST00000543111,;FAM186A,missense_variant,p.Met1445Ile,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 4335/7127 4335/7056 1445/2351 M/I atG/atC rs1162120387,COSM6288647 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GCA . . 3.732e-05 0.0002892 6.717e-05 0.0002488 0.00039 50352497 FAM186A . GRCh38 chr12 50352973 50352973 + Missense_Mutation SNP A A C 7316-2899 BS_HHJZ05XC A A c.3859T>G p.Leu1287Val p.L1287V ENST00000327337 4/8 65 44 7 45 35 0 FAM186A,missense_variant,p.Leu1287Val,ENST00000543111,;FAM186A,missense_variant,p.Leu1287Val,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; C ENSG00000185958 ENST00000327337 Transcript missense_variant 3859/7127 3859/7056 1287/2351 L/V Ttg/Gtg COSM5468725 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.33) possibly_damaging(0.879) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 1 MODERATE 1 SNV 5 1 PASS AAT . . 50352973 ZIC2 . GRCh38 chr13 99982089 99982089 + Missense_Mutation SNP T T G novel 7316-2899 BS_HHJZ05XC T T c.25T>G p.Phe9Val p.F9V ENST00000376335 1/3 79 68 11 35 33 0 ZIC2,missense_variant,p.Phe9Val,ENST00000376335,NM_007129.3;ZIC2,upstream_gene_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000477213,;ZIC2,upstream_gene_variant,,ENST00000481565,;ZIC2,upstream_gene_variant,,ENST00000490085,;,regulatory_region_variant,,ENSR00000065146,; G ENSG00000043355 ENST00000376335 Transcript missense_variant 318/2983 25/1599 9/532 F/V Ttc/Gtc 1 1 ZIC2 HGNC HGNC:12873 protein_coding YES CCDS9495.1 ENSP00000365514 O95409 A0A024RDY6 UPI000013C3DC NM_007129.3 deleterious_low_confidence(0.02) benign(0.055) 1/3 hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27 MODERATE 1 SNV 1 1 PASS GTT . . 99982089 CDAN1 . GRCh38 chr15 42737092 42737092 + Missense_Mutation SNP A A C novel 7316-2899 BS_HHJZ05XC A A c.11T>G p.Val4Gly p.V4G ENST00000356231 1/28 83 72 6 41 39 0 CDAN1,missense_variant,p.Val4Gly,ENST00000356231,NM_138477.2;TTBK2,downstream_gene_variant,,ENST00000267890,NM_173500.3;CDAN1,upstream_gene_variant,,ENST00000563260,;AC090510.1,upstream_gene_variant,,ENST00000500850,;AC090510.1,upstream_gene_variant,,ENST00000567456,;CDAN1,missense_variant,p.Val4Gly,ENST00000643434,;,regulatory_region_variant,,ENSR00000075790,; C ENSG00000140326 ENST00000356231 Transcript missense_variant 37/4657 11/3684 4/1227 V/G gTt/gGt 1 -1 CDAN1 HGNC HGNC:1713 protein_coding YES CCDS32209.1 ENSP00000348564 Q8IWY9 UPI0000229BCB NM_138477.2 deleterious(0) possibly_damaging(0.899) 1/28 hmmpanther:PTHR28678 MODERATE 1 SNV 1 1 PASS AAC . . 42737092 EMILIN2 . GRCh38 chr18 2906869 2906869 + Missense_Mutation SNP A A C novel 7316-2899 BS_HHJZ05XC A A c.2446A>C p.Thr816Pro p.T816P ENST00000254528 5/8 101 89 11 44 43 0 EMILIN2,missense_variant,p.Thr816Pro,ENST00000254528,NM_032048.2;EMILIN2,intron_variant,,ENST00000308080,;EMILIN2,non_coding_transcript_exon_variant,,ENST00000583776,;,regulatory_region_variant,,ENSR00000099955,; C ENSG00000132205 ENST00000254528 Transcript missense_variant 2605/5910 2446/3162 816/1053 T/P Acc/Ccc 1 1 EMILIN2 HGNC HGNC:19881 protein_coding YES CCDS11828.1 ENSP00000254528 Q9BXX0 UPI000013CE3E NM_032048.2 tolerated(0.35) benign(0) 5/8 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5 MODERATE 1 SNV 1 PASS AAC . . 2906869 SBSN . GRCh38 chr19 35527383 35527383 + Missense_Mutation SNP G G T 7316-2899 BS_HHJZ05XC G G c.899C>A p.Ala300Asp p.A300D ENST00000452271 1/4 73 55 6 44 39 0 SBSN,missense_variant,p.Ala300Asp,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; T ENSG00000189001 ENST00000452271 Transcript missense_variant 928/1945 899/1773 300/590 A/D gCc/gAc COSM6242100 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 tolerated(0.14) benign(0.134) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE 1 SNV 1 1 PASS GGC . . 35527383 TTC9B . GRCh38 chr19 40217952 40217952 + Splice_Region SNP T T G novel 7316-2899 BS_HHJZ05XC T T c.427+3A>C ENST00000311308 67 46 10 24 20 0 TTC9B,splice_region_variant,,ENST00000311308,NM_152479.5;MAP3K10,downstream_gene_variant,,ENST00000253055,NM_002446.3;CNTD2,downstream_gene_variant,,ENST00000430325,NM_024877.3;CNTD2,downstream_gene_variant,,ENST00000599263,;TTC9B,non_coding_transcript_exon_variant,,ENST00000593586,;CNTD2,downstream_gene_variant,,ENST00000221818,;CNTD2,downstream_gene_variant,,ENST00000593335,;MAP3K10,downstream_gene_variant,,ENST00000593502,;MAP3K10,downstream_gene_variant,,ENST00000594791,;MAP3K10,downstream_gene_variant,,ENST00000597986,; G ENSG00000174521 ENST00000311308 Transcript splice_region_variant,intron_variant 1 -1 TTC9B HGNC HGNC:26395 protein_coding YES CCDS12550.1 ENSP00000311760 Q8N6N2 UPI000006E8C1 NM_152479.5 1/2 LOW 1 SNV 1 PASS GTA . . 40217952 LMTK3 . GRCh38 chr19 48498839 48498839 + Missense_Mutation SNP A A C novel 7316-2899 BS_HHJZ05XC A A c.2317T>G p.Tyr773Asp p.Y773D ENST00000270238 12/16 58 42 10 30 25 0 LMTK3,missense_variant,p.Tyr744Asp,ENST00000600059,;LMTK3,missense_variant,p.Tyr773Asp,ENST00000270238,NM_001080434.1; C ENSG00000142235 ENST00000270238 Transcript missense_variant 2317/4972 2317/4470 773/1489 Y/D Tac/Gac 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.205) 12/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS TAC . . 48498839 SCAF1 . GRCh38 chr19 49652659 49652661 + In_Frame_Del DEL CCT CCT - rs772638086 7316-2899 BS_HHJZ05XC CCT CCT c.2283_2285del p.Ser763del p.S763del ENST00000360565 7/11 74 61 5 25 22 0 SCAF1,inframe_deletion,p.Ser763del,ENST00000360565,NM_021228.2;SCAF1,downstream_gene_variant,,ENST00000598359,; - ENSG00000126461 ENST00000360565 Transcript inframe_deletion 2394-2396/4306 2270-2272/3939 757-758/1312 AS/A gCCTcc/gcc rs772638086,COSM1287767 1 1 SCAF1 HGNC HGNC:30403 protein_coding YES CCDS33074.1 ENSP00000353769 Q9H7N4 UPI0000071891 NM_021228.2 7/11 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR12618,hmmpanther:PTHR12618:SF24 0.02 0.03037 0,1 MODERATE 1 deletion 2 13 0,1 PASS CGCCTC . . 0.001471 0.0009081 0.001057 0.0008047 0.001222 0.0006878 0.001821 0.001604 0.002037 49652658 ZNF343 . GRCh38 chr20 2483386 2483386 + Missense_Mutation SNP T T G novel 7316-2899 BS_HHJZ05XC T T c.1698A>C p.Glu566Asp p.E566D ENST00000612935 8/8 49 37 5 38 36 0 ZNF343,missense_variant,p.Glu566Asp,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Glu525Asp,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Glu435Asp,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; G ENSG00000088876 ENST00000612935 Transcript missense_variant 2112/3675 1698/1923 566/640 E/D gaA/gaC 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 tolerated(0.11) benign(0.191) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS ATT . . 2483386 PKNOX1 . GRCh38 chr21 43028790 43028790 + Missense_Mutation SNP A A C novel 7316-2899 BS_HHJZ05XC A A c.1015A>C p.Asn339His p.N339H ENST00000291547 10/11 67 59 6 32 32 0 PKNOX1,missense_variant,p.Asn222His,ENST00000432907,NM_001286258.1;PKNOX1,missense_variant,p.Asn339His,ENST00000291547,NM_001320694.1,NM_004571.4;PKNOX1,non_coding_transcript_exon_variant,,ENST00000607150,;PKNOX1,non_coding_transcript_exon_variant,,ENST00000557820,;PKNOX1,3_prime_UTR_variant,,ENST00000560448,;PKNOX1,non_coding_transcript_exon_variant,,ENST00000607049,;PKNOX1,non_coding_transcript_exon_variant,,ENST00000558955,;PKNOX1,downstream_gene_variant,,ENST00000474336,; C ENSG00000160199 ENST00000291547 Transcript missense_variant 1226/5003 1015/1311 339/436 N/H Aac/Cac 1 1 PKNOX1 HGNC HGNC:9022 protein_coding YES CCDS13692.1 ENSP00000291547 P55347 Q96I87 UPI000000D8D4 NM_001320694.1,NM_004571.4 tolerated(0.74) benign(0.001) 10/11 hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF80 MODERATE 1 SNV 1 PASS GAA . . 43028790 RBMXL3 . GRCh38 chrX 115191902 115191902 + Missense_Mutation SNP A A T rs1400893982 7316-2899 BS_HHJZ05XC A A c.2461A>T p.Asn821Tyr p.N821Y ENST00000424776 1/1 62 52 7 28 22 0 RBMXL3,missense_variant,p.Asn821Tyr,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1; T ENSG00000175718 ENST00000424776 Transcript missense_variant 2476/3442 2461/3204 821/1067 N/Y Aac/Tac rs1400893982 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(0.29) benign(0.438) 1/1 mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 MODERATE SNV PASS GAA . . 115191902 KLHL13 . GRCh38 chrX 117910065 117910065 + Missense_Mutation SNP C C T rs1162852753 7316-2899 BS_HHJZ05XC C C c.611G>A p.Arg204Gln p.R204Q ENST00000469946 6/8 70 45 25 38 38 0 KLHL13,missense_variant,p.Arg150Gln,ENST00000371876,;KLHL13,missense_variant,p.Arg201Gln,ENST00000262820,NM_033495.3;KLHL13,missense_variant,p.Arg185Gln,ENST00000540167,NM_001168302.1;KLHL13,missense_variant,p.Arg159Gln,ENST00000545703,NM_001168303.1,NM_001168300.1;KLHL13,missense_variant,p.Arg150Gln,ENST00000371882,;KLHL13,missense_variant,p.Arg150Gln,ENST00000371878,;KLHL13,missense_variant,p.Arg185Gln,ENST00000541812,NM_001168301.1;KLHL13,missense_variant,p.Arg204Gln,ENST00000469946,NM_001168299.1;RF00019,downstream_gene_variant,,ENST00000363421,; T ENSG00000003096 ENST00000469946 Transcript missense_variant 651/2353 611/1977 204/658 R/Q cGg/cAg rs1162852753 1 -1 KLHL13 HGNC HGNC:22931 protein_coding YES CCDS55480.1 ENSP00000419803 Q9P2N7 A0A0C4DG99 UPI0001914B0F NM_001168299.1 tolerated(0.77) benign(0.03) 6/8 Gene3D:3.30.710.10,Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68,SMART_domains:SM00875,cd14735 MODERATE 1 SNV 2 PASS CCG . . 1.361e-05 1.449e-05 0.000304 117910065 STAG2 . GRCh38 chrX 124086626 124086626 + Nonsense_Mutation SNP C C T 7316-2899 BS_HHJZ05XC C C c.3133C>T p.Arg1045Ter p.R1045* ENST00000218089 30/35 62 37 25 35 35 0 STAG2,stop_gained,p.Arg1045Ter,ENST00000371160,NM_001282418.1;STAG2,stop_gained,p.Arg1045Ter,ENST00000371157,NM_006603.4;STAG2,stop_gained,p.Arg1045Ter,ENST00000218089,NM_001042749.2;STAG2,stop_gained,p.Arg1045Ter,ENST00000371145,NM_001042750.1;STAG2,stop_gained,p.Arg1045Ter,ENST00000371144,NM_001042751.1;STAG2,intron_variant,,ENST00000469481,; T ENSG00000101972 ENST00000218089 Transcript stop_gained 3643/5218 3133/3807 1045/1268 R/* Cga/Tga COSM166817,COSM1490455 1 1 STAG2 HGNC HGNC:11355 protein_coding YES CCDS43990.1 ENSP00000218089 Q8N3U4 UPI00004A3A8A NM_001042749.2 30/35 hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3 1,1 HIGH 1 SNV 1 1,1 1 PASS CCG . . 124086626 PRAMEF19 . GRCh38 chr1 13369423 13369423 + Missense_Mutation SNP C C G rs1327551446 7316-442 BS_4T3BZ2F6 C C c.877G>C p.Gly293Arg p.G293R ENST00000376101 3/3 91 76 12 34 34 0 PRAMEF19,missense_variant,p.Gly293Arg,ENST00000376101,NM_001099790.2; G ENSG00000204480 ENST00000376101 Transcript missense_variant 877/1233 877/1233 293/410 G/R Ggg/Cgg rs1327551446 1 -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8 UPI0001661E5E NM_001099790.2 tolerated(0.44) benign(0) 3/3 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF76,Superfamily_domains:SSF52047 MODERATE 1 SNV 5 PASS CCA . . 13369423 PRAMEF19 . GRCh38 chr1 13371223 13371223 + Missense_Mutation SNP A A G rs879250200 7316-442 BS_4T3BZ2F6 A A c.85T>C p.Trp29Arg p.W29R ENST00000376101 2/3 85 72 11 34 34 0 PRAMEF19,missense_variant,p.Trp29Arg,ENST00000376101,NM_001099790.2; G ENSG00000204480 ENST00000376101 Transcript missense_variant 85/1233 85/1233 29/410 W/R Tgg/Cgg rs879250200 1 -1 PRAMEF19 HGNC HGNC:24908 protein_coding YES ENSP00000365269 Q5SWL8 UPI0001661E5E NM_001099790.2 deleterious(0.04) benign(0.007) 2/3 PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF76 MODERATE 1 SNV 5 PASS CAC . . 13371223 AL445648.1 . GRCh38 chr1 24705061 24705063 + Splice_Region DEL TTG TTG - rs1342887837 7316-442 BS_4T3BZ2F6 TTG TTG n.95-9_95-7del ENST00000641176 52 37 9 20 20 0 AL445648.1,splice_region_variant,,ENST00000641176,;,regulatory_region_variant,,ENSR00000003235,; - ENSG00000284699 ENST00000641176 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1342887837 1 1 AL445648.1 Clone_based_ensembl_gene lincRNA YES 1/3 LOW 1 deletion PASS TTTTGA . . 24705060 INSRR . GRCh38 chr1 156843029 156843029 + Missense_Mutation SNP A A G novel 7316-442 BS_4T3BZ2F6 A A c.3101T>C p.Met1034Thr p.M1034T ENST00000368195 17/22 69 56 10 32 32 0 INSRR,missense_variant,p.Met1034Thr,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,intron_variant,,ENST00000530298,; G ENSG00000027644 ENST00000368195 Transcript missense_variant 3498/5101 3101/3894 1034/1297 M/T aTg/aCg 1 -1 INSRR HGNC HGNC:6093 protein_coding YES CCDS1160.1 ENSP00000357178 P14616 UPI000012D8BD NM_014215.2 deleterious(0) probably_damaging(0.999) 17/22 cd05032,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000620,SMART_domains:SM00219,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF338,hmmpanther:PTHR24416 MODERATE 1 SNV 1 PASS CAT . . 156843029 CFH . GRCh38 chr1 196743447 196743447 + Splice_Region SNP T T C rs513699 7316-442 BS_4T3BZ2F6 T T c.3134-5T>C ENST00000367429 87 75 12 29 29 0 CFH,splice_region_variant,,ENST00000367429,NM_000186.3;CFH,splice_region_variant,,ENST00000466229,;CFH,downstream_gene_variant,,ENST00000470918,;,regulatory_region_variant,,ENSR00000256019,; C ENSG00000000971 ENST00000367429 Transcript splice_region_variant,intron_variant rs513699,COSM3997120 1 1 CFH HGNC HGNC:4883 protein_coding YES CCDS1385.1 ENSP00000356399 P08603 A0A024R962 UPI000013C4D1 NM_000186.3 19/21 0,1 LOW 1 SNV 1 0,1 1 PASS ATT . . 0.04499 0.03081 0.06736 0.03582 0.1127 0.06709 0.03888 0.03495 0.01752 196743447 CNPPD1 . GRCh38 chr2 219172828 219172828 + Missense_Mutation SNP T T G rs1192915544 7316-442 BS_4T3BZ2F6 T T c.991A>C p.Thr331Pro p.T331P ENST00000409789 9/9 68 51 13 34 26 1 CNPPD1,missense_variant,p.Thr331Pro,ENST00000409789,NM_001321389.1;CNPPD1,missense_variant,p.Thr331Pro,ENST00000360507,NM_001321390.1,NM_015680.5,NM_001321391.1;SLC23A3,upstream_gene_variant,,ENST00000295738,NM_144712.4;SLC23A3,upstream_gene_variant,,ENST00000409370,;SLC23A3,upstream_gene_variant,,ENST00000409878,NM_001144889.1;SLC23A3,upstream_gene_variant,,ENST00000430764,;CNPPD1,downstream_gene_variant,,ENST00000451647,;CNPPD1,downstream_gene_variant,,ENST00000453038,;SLC23A3,upstream_gene_variant,,ENST00000455516,NM_001144890.1;RETREG2,upstream_gene_variant,,ENST00000458520,NM_001321110.1,NM_001321109.1;SLC23A3,upstream_gene_variant,,ENST00000421779,;AC068946.1,upstream_gene_variant,,ENST00000318673,;SLC23A3,upstream_gene_variant,,ENST00000414999,;SLC23A3,upstream_gene_variant,,ENST00000461812,;SLC23A3,upstream_gene_variant,,ENST00000465580,;SLC23A3,upstream_gene_variant,,ENST00000497918,;AC068946.1,upstream_gene_variant,,ENST00000498327,; G ENSG00000115649 ENST00000409789 Transcript missense_variant 1419/2073 991/1233 331/410 T/P Act/Cct rs1192915544 1 -1 CNPPD1 HGNC HGNC:25220 protein_coding YES CCDS2433.1 ENSP00000386277 Q9BV87 UPI000013D5FA NM_001321389.1 tolerated_low_confidence(0.38) benign(0) 9/9 Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTG . . 219172828 SRGAP3 . GRCh38 chr3 8985575 8985575 + Missense_Mutation SNP T T C novel 7316-442 BS_4T3BZ2F6 T T c.3244A>G p.Thr1082Ala p.T1082A ENST00000383836 22/22 73 53 16 27 26 0 SRGAP3,missense_variant,p.Thr1082Ala,ENST00000383836,NM_014850.3;SRGAP3,missense_variant,p.Thr1058Ala,ENST00000360413,NM_001033117.2; C ENSG00000196220 ENST00000383836 Transcript missense_variant 3672/8656 3244/3300 1082/1099 T/A Acg/Gcg 1 -1 SRGAP3 HGNC HGNC:19744 protein_coding YES CCDS2572.1 ENSP00000373347 O43295 UPI0000074099 NM_014850.3 tolerated_low_confidence(0.6) benign(0) 22/22 mobidb-lite MODERATE 1 SNV 1 1 PASS GTC . . 8985575 ZNF148 . GRCh38 chr3 125279253 125279254 + Splice_Region INS - - AAA rs750443641 7316-442 BS_4T3BZ2F6 - - c.460-7_460-6insTTT ENST00000360647 74 61 8 24 24 0 ZNF148,splice_region_variant,,ENST00000360647,NM_021964.2,NM_001348432.2,NM_001348426.2,NM_001348430.2,NM_001348424.1,NM_001348428.2,NM_001348431.2,NM_001348425.2,NM_001348433.2,NM_001348427.2,NM_001348429.2;ZNF148,splice_region_variant,,ENST00000484491,;ZNF148,splice_region_variant,,ENST00000485866,;ZNF148,splice_region_variant,,ENST00000492394,;ZNF148,intron_variant,,ENST00000468369,;ZNF148,splice_region_variant,,ENST00000497929,; AAA ENSG00000163848 ENST00000360647 Transcript splice_region_variant,intron_variant rs750443641 1 -1 ZNF148 HGNC HGNC:12933 protein_coding YES CCDS3031.1 ENSP00000353863 Q9UQR1 UPI000013C2FF NM_021964.2,NM_001348432.2,NM_001348426.2,NM_001348430.2,NM_001348424.1,NM_001348428.2,NM_001348431.2,NM_001348425.2,NM_001348433.2,NM_001348427.2,NM_001348429.2 5/8 LOW 1 insertion 1 1 PASS TTC . . 0.0006424 0.0009197 0.0004508 0.001264 0.0006921 0.0008787 0.0005485 0.0032 0.0003775 125279253 MUC4 . GRCh38 chr3 195780215 195780215 + Missense_Mutation SNP C C G rs79944988 7316-442 BS_4T3BZ2F6 C C c.11365G>C p.Asp3789His p.D3789H ENST00000463781 2/25 69 52 12 23 20 0 MUC4,missense_variant,p.Asp3789His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Asp3789His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Asp3789His,ENST00000478156,;MUC4,missense_variant,p.Asp3789His,ENST00000466475,;MUC4,missense_variant,p.Asp3789His,ENST00000477756,;MUC4,missense_variant,p.Asp3789His,ENST00000477086,;MUC4,missense_variant,p.Asp3789His,ENST00000480843,;MUC4,missense_variant,p.Asp3789His,ENST00000462323,;MUC4,missense_variant,p.Asp3789His,ENST00000470451,;MUC4,missense_variant,p.Asp3789His,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 11825/17110 11365/16239 3789/5412 D/H Gac/Cac rs79944988,COSM4973231,COSM3992958 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.28) benign(0.11) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0.1609 0.1846 0.1254 0.0714 0.2306 0.1748 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS TCA . . 0.01134 0.03553 0.01109 0.004846 0.03397 0.002059 0.01367 0.01087 0.005323 195780215 MUC4 . GRCh38 chr3 195781070 195781070 + Missense_Mutation SNP T T G rs771914663 7316-442 BS_4T3BZ2F6 T T c.10510A>C p.Thr3504Pro p.T3504P ENST00000463781 2/25 114 80 22 38 32 0 MUC4,missense_variant,p.Thr3504Pro,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr3504Pro,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr3504Pro,ENST00000478156,;MUC4,missense_variant,p.Thr3504Pro,ENST00000466475,;MUC4,missense_variant,p.Thr3504Pro,ENST00000477756,;MUC4,missense_variant,p.Thr3504Pro,ENST00000477086,;MUC4,missense_variant,p.Thr3504Pro,ENST00000480843,;MUC4,missense_variant,p.Thr3504Pro,ENST00000462323,;MUC4,missense_variant,p.Thr3504Pro,ENST00000470451,;MUC4,missense_variant,p.Thr3504Pro,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 10970/17110 10510/16239 3504/5412 T/P Act/Cct rs771914663,COSM3927790 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.31) possibly_damaging(0.517) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GTG . . 0.01196 0.0546 0.01382 0.004531 0.04538 0.003511 0.01062 0.01584 0.008194 195781070 PHF14 . GRCh38 chr7 10982580 10982580 + Missense_Mutation SNP T T A novel 7316-442 BS_4T3BZ2F6 T T c.321T>A p.Asn107Lys p.N107K ENST00000403050 3/17 107 96 5 21 21 0 PHF14,missense_variant,p.Asn107Lys,ENST00000403050,NM_014660.3;PHF14,missense_variant,p.Asn107Lys,ENST00000634607,;PHF14,intron_variant,,ENST00000642461,;PHF14,intron_variant,,ENST00000476009,;PHF14,non_coding_transcript_exon_variant,,ENST00000490957,;PHF14,intron_variant,,ENST00000423760,;PHF14,intron_variant,,ENST00000521747,; A ENSG00000106443 ENST00000403050 Transcript missense_variant 773/4276 321/2667 107/888 N/K aaT/aaA 1 1 PHF14 HGNC HGNC:22203 protein_coding YES CCDS47542.1 ENSP00000385795 O94880 UPI000020EB41 NM_014660.3 tolerated_low_confidence(0.45) benign(0.001) 3/17 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF103 MODERATE 1 SNV 1 PASS ATG . . 10982580 MLXIPL . GRCh38 chr7 73597383 73597383 + Missense_Mutation SNP T T G rs1442969402 7316-442 BS_4T3BZ2F6 T T c.1402A>C p.Thr468Pro p.T468P ENST00000313375 9/17 54 31 10 16 14 0 MLXIPL,missense_variant,p.Thr468Pro,ENST00000313375,NM_032951.2;MLXIPL,missense_variant,p.Thr375Pro,ENST00000434326,;MLXIPL,missense_variant,p.Thr468Pro,ENST00000414749,NM_032953.2;MLXIPL,missense_variant,p.Thr468Pro,ENST00000354613,NM_032954.2;MLXIPL,missense_variant,p.Thr468Pro,ENST00000429400,NM_032952.2;MLXIPL,downstream_gene_variant,,ENST00000453275,;MLXIPL,missense_variant,p.Thr468Pro,ENST00000345114,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000476404,;MLXIPL,upstream_gene_variant,,ENST00000467221,;MLXIPL,downstream_gene_variant,,ENST00000488212,; G ENSG00000009950 ENST00000313375 Transcript missense_variant 1450/3278 1402/2559 468/852 T/P Acc/Ccc rs1442969402 1 -1 MLXIPL HGNC HGNC:12744 protein_coding YES CCDS5553.1 ENSP00000320886 Q9NP71 UPI0000138F98 NM_032951.2 tolerated(0.2) benign(0) 9/17 hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF14,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTG . . 0.002628 0.0008696 0.007389 0.006849 0.002128 0.000461 0.004342 0.006667 0.01068 73597383 PTPN12 . GRCh38 chr7 77618504 77618504 + Missense_Mutation SNP G G A rs9640663 7316-442 BS_4T3BZ2F6 G G c.964G>A p.Val322Ile p.V322I ENST00000248594 12/18 115 36 75 28 23 5 PTPN12,missense_variant,p.Val322Ile,ENST00000248594,NM_002835.3;PTPN12,missense_variant,p.Val192Ile,ENST00000435495,NM_001131009.1;PTPN12,missense_variant,p.Val203Ile,ENST00000415482,NM_001131008.1; A ENSG00000127947 ENST00000248594 Transcript missense_variant 1236/3406 964/2343 322/780 V/I Gtc/Atc rs9640663,COSM1568868 1 1 PTPN12 HGNC HGNC:9645 protein_coding YES CCDS5592.1 ENSP00000248594 Q05209 UPI000013CC4C NM_002835.3 tolerated(0.23) benign(0.001) 12/18 PIRSF_domain:PIRSF000932,hmmpanther:PTHR19134:SF283,hmmpanther:PTHR19134 0.7873 0.8729 0.7695 0.9048 0.6252 0.7301 0.8268 0.5871 0,1 22655260,16764945 MODERATE 1 SNV 1 0,1 PASS GGT . . 0.6719 0.8307 0.8152 0.6794 0.8983 0.565 0.59 0.6651 0.6872 77618504 PLAA . GRCh38 chr9 26906081 26906082 + Splice_Region INS - - A rs775239390 7316-442 BS_4T3BZ2F6 - - c.1823-6dup ENST00000397292 53 40 8 22 21 0 PLAA,splice_region_variant,,ENST00000397292,NM_001321546.1,NM_001031689.2;PLAA,splice_region_variant,,ENST00000517642,;PLAA,downstream_gene_variant,,ENST00000487173,;PLAA,downstream_gene_variant,,ENST00000520884,; A ENSG00000137055 ENST00000397292 Transcript splice_region_variant,intron_variant rs775239390 1 -1 PLAA HGNC HGNC:9043 protein_coding YES CCDS35000.1 ENSP00000380460 Q9Y263 UPI00000372D6 NM_001321546.1,NM_001031689.2 13/13 LOW 1 insertion 1 1 PASS TTA . . 0.02144 0.01898 0.03024 0.04084 0.02825 0.01816 0.01725 0.02431 0.03276 26906081 WASHC2A . GRCh38 chr10 50068136 50068136 + Missense_Mutation SNP C C T rs11552619 7316-442 BS_4T3BZ2F6 C C c.35C>T p.Ala12Val p.A12V ENST00000282633 2/31 43 34 9 17 17 0 WASHC2A,missense_variant,p.Ala12Val,ENST00000351071,NM_001291398.1;WASHC2A,missense_variant,p.Ala12Val,ENST00000611324,;WASHC2A,missense_variant,p.Ala12Val,ENST00000314664,NM_001330102.1;WASHC2A,missense_variant,p.Ala12Val,ENST00000282633,NM_001005751.2;FAM21EP,upstream_gene_variant,,ENST00000456967,;WASHC2A,upstream_gene_variant,,ENST00000492914,;WASHC2A,missense_variant,p.Ala12Val,ENST00000434114,;,regulatory_region_variant,,ENSR00000027945,;FAM21EP,upstream_gene_variant,,ENST00000417804,; T ENSG00000099290 ENST00000282633 Transcript missense_variant 80/4272 35/4026 12/1341 A/V gCg/gTg rs11552619,COSM2146118 1 1 WASHC2A HGNC HGNC:23416 protein_coding YES CCDS41527.1 ENSP00000282633 Q641Q2 UPI000044FEAB NM_001005751.2 deleterious_low_confidence(0.04) benign(0.003) 2/31 hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF24 0.0020 0.0053 0.001 0.002 0,1 MODERATE 1 SNV 1 0,1 PASS GCG . . 0.002453 0.006111 0.00337 0.002005 0.0002344 0.002275 0.002235 0.002818 0.002123 50068136 SELPLG . GRCh38 chr12 108623632 108623632 + Missense_Mutation SNP T T G 7316-442 BS_4T3BZ2F6 T T c.724A>C p.Thr242Pro p.T242P ENST00000228463 2/2 67 46 15 27 26 0 SELPLG,missense_variant,p.Thr226Pro,ENST00000550948,NM_003006.4;SELPLG,missense_variant,p.Thr242Pro,ENST00000228463,NM_001206609.1;SELPLG,missense_variant,p.Thr216Pro,ENST00000388962,; G ENSG00000110876 ENST00000228463 Transcript missense_variant 901/1704 724/1287 242/428 T/P Acc/Ccc COSM3931482,COSM3931481 1 -1 SELPLG HGNC HGNC:10722 protein_coding YES CCDS55881.1 ENSP00000228463 Q14242 UPI0002065776 NM_001206609.1 tolerated(1) benign(0) 2/2 hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg 1,1 MODERATE 1 SNV 2 1,1 PASS GTT . . 108623632 KDM6B . GRCh38 chr17 7846392 7846392 + Splice_Region SNP A A C rs556227638 7316-442 BS_4T3BZ2F6 A A c.457-8A>C ENST00000254846 54 28 13 17 17 0 KDM6B,splice_region_variant,,ENST00000254846,NM_001080424.1;KDM6B,splice_region_variant,,ENST00000448097,;KDM6B,splice_region_variant,,ENST00000570632,;KDM6B,downstream_gene_variant,,ENST00000571047,;KDM6B,downstream_gene_variant,,ENST00000575521,; C ENSG00000132510 ENST00000254846 Transcript splice_region_variant,intron_variant rs556227638 1 1 KDM6B HGNC HGNC:29012 protein_coding YES CCDS32552.1 ENSP00000254846 O15054 UPI00006C175B NM_001080424.1 6/21 0.0092 0.0166 0.0058 0.003 0.003 0.0143 LOW 1 SNV 1 1 PASS CAC . . 0.02734 0.042 0.0632 0.02534 0.06634 0.009823 0.01864 0.04861 0.02789 7846392 KRTAP9-4 . GRCh38 chr17 41250091 41250091 + Missense_Mutation SNP A A G rs76766237 7316-442 BS_4T3BZ2F6 A A c.371A>G p.Asn124Ser p.N124S ENST00000334109 1/1 79 59 19 26 25 0 KRTAP9-4,missense_variant,p.Asn124Ser,ENST00000334109,NM_033191.2; G ENSG00000241595 ENST00000334109 Transcript missense_variant 405/967 371/465 124/154 N/S aAc/aGc rs76766237,COSM3766091 1 1 KRTAP9-4 HGNC HGNC:18902 protein_coding YES CCDS11386.1 ENSP00000334922 Q9BYQ2 UPI000013F6DA NM_033191.2 tolerated(1) benign(0.045) 1/1 hmmpanther:PTHR23262:SF141,hmmpanther:PTHR23262,Pfam_domain:PF13885 0,1 MODERATE 1 SNV 0,1 PASS AAC . . 0.01468 0.0004807 0.01963 0.005709 0.03476 0.06036 0.008812 0.00934 0.004301 41250091 LRRC45 . GRCh38 chr17 82030605 82030606 + Splice_Region INS - - TT novel 7316-442 BS_4T3BZ2F6 - - c.1817-4_1817-3insTT ENST00000306688 55 40 7 24 24 0 LRRC45,splice_region_variant,,ENST00000306688,NM_144999.3;RAC3,upstream_gene_variant,,ENST00000306897,NM_001316307.1,NM_005052.2;DCXR,downstream_gene_variant,,ENST00000577532,;RAC3,upstream_gene_variant,,ENST00000580965,;RAC3,upstream_gene_variant,,ENST00000584341,;AC137723.2,downstream_gene_variant,,ENST00000623540,;LRRC45,splice_region_variant,,ENST00000581227,;LRRC45,downstream_gene_variant,,ENST00000582083,;LRRC45,downstream_gene_variant,,ENST00000583302,;RAC3,upstream_gene_variant,,ENST00000585014,;,regulatory_region_variant,,ENSR00000099522,; TT ENSG00000169683 ENST00000306688 Transcript splice_region_variant,intron_variant 1 1 LRRC45 HGNC HGNC:28302 protein_coding YES CCDS11797.1 ENSP00000306760 Q96CN5 UPI000006EF33 NM_144999.3 16/16 LOW 1 insertion 1 PASS TGC . . 82030605 GALNT1 . GRCh38 chr18 35692328 35692329 + Splice_Region DEL AT AT - rs201969184 7316-442 BS_4T3BZ2F6 AT AT c.1299+22_1299+23del ENST00000269195 70 57 5 20 17 0 GALNT1,splice_region_variant,,ENST00000269195,NM_020474.3;GALNT1,splice_region_variant,,ENST00000590654,;GALNT1,intron_variant,,ENST00000589189,; - ENSG00000141429 ENST00000269195 Transcript splice_region_variant,intron_variant rs201969184,COSM1721977 1 1 GALNT1 HGNC HGNC:4123 protein_coding YES CCDS11915.1 ENSP00000269195 Q10472 A0A024RC48 UPI00001311FC NM_020474.3 8/10 0.1763 0.2003 0,1 LOW 1 deletion 1 14 0,1 PASS AAATA . . 0.1212 0.1145 0.1078 0.0933 0.1071 0.1211 0.1294 0.09838 0.1286 35692327 CNN2 . GRCh38 chr19 1037682 1037682 + Missense_Mutation SNP G G A rs200699249 7316-442 BS_4T3BZ2F6 G G c.775G>A p.Asp259Asn p.D259N ENST00000562958 7/7 86 67 15 36 36 0 CNN2,missense_variant,p.Asp259Asn,ENST00000562958,NM_001303501.1;CNN2,missense_variant,p.Asp238Asn,ENST00000263097,NM_004368.3;CNN2,missense_variant,p.Asp227Asn,ENST00000565096,NM_001303499.1;CNN2,missense_variant,p.Asp199Asn,ENST00000348419,NM_201277.2;CNN2,missense_variant,p.Asp175Asn,ENST00000566695,;CNN2,3_prime_UTR_variant,,ENST00000568865,;ABCA7,upstream_gene_variant,,ENST00000263094,NM_019112.3;ABCA7,upstream_gene_variant,,ENST00000433129,;ABCA7,upstream_gene_variant,,ENST00000435683,;ABCA7,upstream_gene_variant,,ENST00000524850,;ABCA7,upstream_gene_variant,,ENST00000531467,;CNN2,downstream_gene_variant,,ENST00000562015,;CNN2,downstream_gene_variant,,ENST00000562075,;CNN2,downstream_gene_variant,,ENST00000606983,;CNN2,downstream_gene_variant,,ENST00000607102,;ABCA7,upstream_gene_variant,,ENST00000611490,;AC011558.1,downstream_gene_variant,,ENST00000623459,;CNN2,non_coding_transcript_exon_variant,,ENST00000564572,;ABCA7,upstream_gene_variant,,ENST00000525238,;ABCA7,upstream_gene_variant,,ENST00000526885,;ABCA7,upstream_gene_variant,,ENST00000527496,;ABCA7,upstream_gene_variant,,ENST00000530703,;CNN2,downstream_gene_variant,,ENST00000569352,; A ENSG00000064666 ENST00000562958 Transcript missense_variant 808/2194 775/993 259/330 D/N Gac/Aac rs200699249,COSM4591461 1 1 CNN2 HGNC HGNC:2156 protein_coding YES CCDS77205.1 ENSP00000456436 B4DUT8 UPI00017A7FF4 NM_001303501.1 tolerated(0.25) benign(0.022) 7/7 hmmpanther:PTHR18959,hmmpanther:PTHR18959:SF47 0,1 MODERATE 1 SNV 2 0,1 PASS CGA . . 1.648e-05 2.981e-05 2.747e-05 1037682 CNN2 . GRCh38 chr19 1037872 1037872 + Missense_Mutation SNP C C A rs78251590 7316-442 BS_4T3BZ2F6 C C c.965C>A p.Pro322His p.P322H ENST00000562958 7/7 99 77 17 46 45 0 CNN2,missense_variant,p.Pro322His,ENST00000562958,NM_001303501.1;CNN2,missense_variant,p.Pro301His,ENST00000263097,NM_004368.3;CNN2,missense_variant,p.Pro290His,ENST00000565096,NM_001303499.1;CNN2,missense_variant,p.Pro262His,ENST00000348419,NM_201277.2;CNN2,3_prime_UTR_variant,,ENST00000568865,;ABCA7,upstream_gene_variant,,ENST00000263094,NM_019112.3;ABCA7,upstream_gene_variant,,ENST00000433129,;ABCA7,upstream_gene_variant,,ENST00000435683,;ABCA7,upstream_gene_variant,,ENST00000524850,;ABCA7,upstream_gene_variant,,ENST00000531467,;CNN2,downstream_gene_variant,,ENST00000562075,;CNN2,downstream_gene_variant,,ENST00000566695,;CNN2,downstream_gene_variant,,ENST00000606983,;CNN2,downstream_gene_variant,,ENST00000607102,;ABCA7,upstream_gene_variant,,ENST00000611490,;AC011558.1,downstream_gene_variant,,ENST00000623459,;CNN2,non_coding_transcript_exon_variant,,ENST00000564572,;ABCA7,upstream_gene_variant,,ENST00000525238,;ABCA7,upstream_gene_variant,,ENST00000526885,;ABCA7,upstream_gene_variant,,ENST00000527496,;ABCA7,upstream_gene_variant,,ENST00000530703,;CNN2,downstream_gene_variant,,ENST00000569352,; A ENSG00000064666 ENST00000562958 Transcript missense_variant 998/2194 965/993 322/330 P/H cCt/cAt rs78251590,COSM3733983,COSM138112 1 1 CNN2 HGNC HGNC:2156 protein_coding YES CCDS77205.1 ENSP00000456436 B4DUT8 UPI00017A7FF4 NM_001303501.1 tolerated(0.1) benign(0) 7/7 hmmpanther:PTHR18959,hmmpanther:PTHR18959:SF47,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CCT . . 1037872 ZNF493 . GRCh38 chr19 21424098 21424098 + Missense_Mutation SNP G G A rs141991200 7316-442 BS_4T3BZ2F6 G G c.1439G>A p.Arg480Lys p.R480K ENST00000392288 4/4 104 92 9 20 19 0 ZNF493,missense_variant,p.Arg480Lys,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.Arg352Lys,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;AC010615.4,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,; A ENSG00000196268 ENST00000392288 Transcript missense_variant 1548/5023 1439/2325 480/774 R/K aGg/aAg rs141991200,COSM3102934,COSM3102933 1 1 ZNF493 HGNC HGNC:23708 protein_coding YES CCDS42536.1 ENSP00000376110 Q6ZR52 UPI000022ABBF NM_001076678.2 tolerated(1) benign(0.005) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,hmmpanther:PTHR24384:SF134,PROSITE_patterns:PS00028,PIRSF_domain:PIRSF013212,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGG . . 4.088e-05 0.0001754 1.962e-05 7.305e-05 21424098 MX1 . GRCh38 chr21 41452874 41452874 + Splice_Region SNP G G A rs111623747 7316-442 BS_4T3BZ2F6 G G c.1758+5G>A ENST00000398600 75 49 25 28 28 0 MX1,splice_region_variant,,ENST00000288383,;MX1,splice_region_variant,,ENST00000398598,NM_002462.4;MX1,splice_region_variant,,ENST00000398600,NM_001144925.2;MX1,splice_region_variant,,ENST00000455164,NM_001178046.2;MX1,intron_variant,,ENST00000619682,NM_001282920.1;MX1,downstream_gene_variant,,ENST00000486275,;MX1,downstream_gene_variant,,ENST00000491110,; A ENSG00000157601 ENST00000398600 Transcript splice_region_variant,intron_variant rs111623747 1 1 MX1 HGNC HGNC:7532 protein_coding YES CCDS13673.1 ENSP00000381601 P20591 UPI0000206F16 NM_001144925.2 18/18 0.0004 0.002 0.0002326 LOW 1 SNV 2 PASS CGT . . 2.85e-05 6.537e-05 2.694e-05 9.766e-05 41452874 MAGEC1 . GRCh38 chrX 141905936 141905936 + Missense_Mutation SNP A A C rs80314937 7316-442 BS_4T3BZ2F6 A A c.532A>C p.Ile178Leu p.I178L ENST00000285879 4/4 133 105 17 38 35 0 MAGEC1,missense_variant,p.Ile178Leu,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; C ENSG00000155495 ENST00000285879 Transcript missense_variant 818/4270 532/3429 178/1142 I/L Att/Ctt rs80314937,COSM5655182,COSM4156627 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(1) benign(0) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TAT . . 0.001039 0.002972 0.0005556 0.0002075 0.0008894 0.0007944 0.001027 0.000943 0.001411 141905936 MT-ND5 . GRCh38 chrM 13031 13031 + Nonsense_Mutation SNP G G A 7316-442 BS_4T3BZ2F6 G G c.695G>A p.Trp232Ter p.W232* ENST00000361567 1/1 28141 23843 3543 4795 4726 3 MT-ND5,stop_gained,p.Trp232Ter,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CO2,downstream_gene_variant,,ENST00000361739,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP8,downstream_gene_variant,,ENST00000361851,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TK,downstream_gene_variant,,ENST00000387421,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,; A ENSG00000198786 ENST00000361567 Transcript stop_gained 695/1812 695/1812 232/603 W/* tGa/tAa COSM488738 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF00361,Prints_domain:PR01434,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974,Transmembrane_helices:TMhelix 1 HIGH 1 SNV 1 1 PASS TGA . . 13031 FAM205A . GRCh38 chr9 34726185 34726185 + Missense_Mutation SNP A A G rs521630 7316-146 BS_Z5JH1FMC A A c.1055T>C p.Phe352Ser p.F352S ENST00000378788 4/4 41 35 6 28 28 0 FAM205A,missense_variant,p.Phe352Ser,ENST00000378788,NM_001141917.1; G ENSG00000205108 ENST00000378788 Transcript missense_variant 1095/4225 1055/4008 352/1335 F/S tTt/tCt rs521630,COSM4592890,COSM4592891 1 -1 FAM205A HGNC HGNC:41911 protein_coding YES CCDS55305.1 ENSP00000417711 Q6ZU69 UPI00017EE92B NM_001141917.1 tolerated(0.08) benign(0.098) 4/4 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF15 0.4760 0.3873 0.4035 0.5188 0.4612 0.6186 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS AAA . . 0.3664 0.3619 0.3508 0.4203 0.2643 0.3443 0.33 0.3537 0.5282 34726185 PPP6C . GRCh38 chr9 125158236 125158236 + Splice_Region SNP C C T novel 7316-146 BS_Z5JH1FMC C C c.490+5G>A ENST00000451402 69 41 27 36 31 3 PPP6C,splice_region_variant,,ENST00000373547,NM_002721.4;PPP6C,splice_region_variant,,ENST00000415905,NM_001123369.1;PPP6C,splice_region_variant,,ENST00000451402,NM_001123355.1;PPP6C,splice_region_variant,,ENST00000456642,; T ENSG00000119414 ENST00000451402 Transcript splice_region_variant,intron_variant 1 -1 PPP6C HGNC HGNC:9323 protein_coding YES CCDS48018.1 ENSP00000392147 O00743 UPI000172E24D NM_001123355.1 5/7 LOW 1 SNV 2 1 PASS TCT . . 125158236 ZIC2 . GRCh38 chr13 99982140 99982142 + In_Frame_Del DEL GCG GCG - rs781344820 7316-146 BS_Z5JH1FMC GCG GCG c.90_92del p.Ala33del p.A33del ENST00000376335 1/3 76 64 5 39 36 0 ZIC2,inframe_deletion,p.Ala33del,ENST00000376335,NM_007129.3;ZIC2,upstream_gene_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000477213,;ZIC2,upstream_gene_variant,,ENST00000481565,;ZIC2,upstream_gene_variant,,ENST00000490085,;,regulatory_region_variant,,ENSR00000065146,; - ENSG00000043355 ENST00000376335 Transcript inframe_deletion 369-371/2983 76-78/1599 26/532 A/- GCG/- rs781344820,COSM5757724 1 1 ZIC2 HGNC HGNC:12873 protein_coding YES CCDS9495.1 ENSP00000365514 O95409 A0A024RDY6 UPI000013C3DC NM_007129.3 1/3 Low_complexity_(Seg):seg,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27 0.03966 0.03866 0,1 MODERATE 1 deletion 1 14 0,1 1 PASS CCGCGG . . 0.003547 0.001901 0.005984 0.002609 0.00157 0.004249 0.003036 0.00361 0.005183 99982139 DENND1C . GRCh38 chr19 6477240 6477240 + Frame_Shift_Del DEL G G - rs553532837 7316-146 BS_Z5JH1FMC G G c.491del p.Pro164LeufsTer29 p.P164Lfs*29 ENST00000381480 8/23 69 56 5 26 24 0 DENND1C,frameshift_variant,p.Pro164LeufsTer29,ENST00000381480,NM_024898.3;DENND1C,frameshift_variant,p.Pro120LeufsTer29,ENST00000543576,NM_001290331.1;DENND1C,frameshift_variant,p.Pro120LeufsTer?,ENST00000590173,;DENND1C,frameshift_variant,p.Pro120LeufsTer?,ENST00000590473,;DENND1C,downstream_gene_variant,,ENST00000588421,;DENND1C,non_coding_transcript_exon_variant,,ENST00000591030,;DENND1C,frameshift_variant,p.Pro120LeufsTer29,ENST00000590867,;DENND1C,3_prime_UTR_variant,,ENST00000586046,;DENND1C,non_coding_transcript_exon_variant,,ENST00000592543,;DENND1C,non_coding_transcript_exon_variant,,ENST00000589491,;DENND1C,non_coding_transcript_exon_variant,,ENST00000588988,;DENND1C,upstream_gene_variant,,ENST00000590444,;DENND1C,upstream_gene_variant,,ENST00000590818,; - ENSG00000205744 ENST00000381480 Transcript frameshift_variant 604/2816 491/2406 164/801 P/X cCt/ct rs553532837,COSM4437579,COSM4437578 1 -1 DENND1C HGNC HGNC:26225 protein_coding YES CCDS45938.1 ENSP00000370889 Q8IV53 UPI000007469C NM_024898.3 8/23 Pfam_domain:PF02141,PROSITE_profiles:PS50211,hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF25,SMART_domains:SM00799 0.0010 0.0008 0.003 0.001 0,1,1 HIGH 1 deletion 1 0,1,1 PASS TAGG . . 0.002402 0.0005763 0.004408 0.004552 0.002967 0.002215 0.001458 0.002582 0.004569 6477239 TNFSF9 . GRCh38 chr19 6531138 6531140 + In_Frame_Del DEL GCT GCT - rs763649680 7316-146 BS_Z5JH1FMC GCT GCT c.120_122del p.Leu41del p.L41del ENST00000245817 1/3 65 52 5 35 27 0 TNFSF9,inframe_deletion,p.Leu41del,ENST00000245817,NM_003811.3;,regulatory_region_variant,,ENSR00000106533,; - ENSG00000125657 ENST00000245817 Transcript inframe_deletion 140-142/1665 102-104/765 34-35/254 GL/G ggGCTg/ggg rs763649680,COSM4170175 1 1 TNFSF9 HGNC HGNC:11939 protein_coding YES CCDS12169.1 ENSP00000245817 P41273 A0A0U5J8I0 UPI00001370B7 NM_003811.3 1/3 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15153 0,1 MODERATE 1 deletion 1 18 0,1 PASS GGGCTG . . 0.003853 0.003472 0.001108 0.001035 0.003079 0.02097 0.002168 0.004195 0.0009488 6531137 RHPN2 . GRCh38 chr19 33026505 33026505 + Frame_Shift_Del DEL C C - novel 7316-146 BS_Z5JH1FMC C C c.313del p.Glu105ArgfsTer8 p.E105Rfs*8 ENST00000254260 3/15 57 46 6 28 27 0 RHPN2,frameshift_variant,p.Glu105ArgfsTer8,ENST00000254260,NM_033103.4;RHPN2,frameshift_variant,p.Glu105ArgfsTer9,ENST00000588388,;RHPN2,splice_region_variant,,ENST00000544458,; - ENSG00000131941 ENST00000254260 Transcript frameshift_variant,splice_region_variant 349/3500 313/2061 105/686 E/X Gag/ag 1 -1 RHPN2 HGNC HGNC:19974 protein_coding YES CCDS12427.1 ENSP00000254260 Q8IUC4 UPI00000747A3 NM_033103.4 3/15 hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF5,cd11634 HIGH 1 deletion 1 PASS CTCT . . 33026504 MT-CYB . GRCh38 chrM 14963 14963 + Missense_Mutation SNP G G A novel 7316-146 BS_Z5JH1FMC G G c.217G>A p.Val73Met p.V73M ENST00000361789 1/1 26171 22210 3708 3501 3446 3 MT-CYB,missense_variant,p.Val73Met,ENST00000361789,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND5,downstream_gene_variant,,ENST00000361567,;MT-ND6,upstream_gene_variant,,ENST00000361681,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,upstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,; A ENSG00000198727 ENST00000361789 Transcript missense_variant 217/1141 217/1141 73/380 V/M Gta/Ata 1 1 MT-CYB HGNC HGNC:7427 protein_coding YES ENSP00000354554 P00156 Q0ZFD6 UPI0000DA7DCA deleterious_low_confidence(0) probably_damaging(0.997) 1/1 PDB-ENSP_mappings:5xte.J,PDB-ENSP_mappings:5xte.V,PDB-ENSP_mappings:5xth.AJ,PDB-ENSP_mappings:5xth.AV,PDB-ENSP_mappings:5xti.AJ,PDB-ENSP_mappings:5xti.AV,PROSITE_profiles:PS51002,cd00284,hmmpanther:PTHR19271,Pfam_domain:PF00033,Gene3D:1.20.810.10,PIRSF_domain:PIRSF038885,Superfamily_domains:SSF81342 MODERATE 1 SNV 1 PASS CGT . . 14963 ATPAF1 . GRCh38 chr1 46668390 46668390 + Translation_Start_Site SNP A A C rs1008928326 7316-2663 BS_45VHDFRD A A c.2T>G p.Met1? p.M1? ENST00000576409 1/9 47 36 7 43 43 0 ATPAF1,start_lost,p.Met1?,ENST00000576409,;ATPAF1,start_lost,p.Met1?,ENST00000371937,NM_022745.4;ATPAF1,start_lost,p.Met1?,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,upstream_gene_variant,,ENST00000574428,;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; C ENSG00000123472 ENST00000576409 Transcript start_lost 65/4158 2/1056 1/351 M/R aTg/aGg rs1008928326 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E deleterious_low_confidence(0) unknown(0) 1/9 HIGH 1 SNV 1 1 PASS CAT . . 46668390 TCHH . GRCh38 chr1 152111205 152111205 + Missense_Mutation SNP C C A novel 7316-2663 BS_45VHDFRD C C c.2012G>T p.Arg671Leu p.R671L ENST00000614923 3/3 67 57 6 43 42 0 TCHH,missense_variant,p.Arg671Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg671Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 2107/6995 2012/5832 671/1943 R/L cGg/cTg 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 deleterious_low_confidence(0) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 MODERATE 1 SNV 5 1 PASS CCG . . 152111205 HRNR . GRCh38 chr1 152215037 152215037 + Missense_Mutation SNP G G A rs1239344712 7316-2663 BS_45VHDFRD G G c.6592C>T p.His2198Tyr p.H2198Y ENST00000368801 3/3 54 41 7 56 52 1 HRNR,missense_variant,p.His2198Tyr,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;,regulatory_region_variant,,ENSR00000254438,; A ENSG00000197915 ENST00000368801 Transcript missense_variant 6668/9623 6592/8553 2198/2850 H/Y Cac/Tac rs1239344712,COSM6457267 1 -1 HRNR HGNC HGNC:20846 protein_coding YES CCDS30859.1 ENSP00000357791 Q86YZ3 UPI00001D7CAD NM_001009931.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25 0,1 MODERATE 1 SNV 1 0,1 PASS TGG . . 1.231e-05 7.034e-05 0.0001023 0.0001841 152215037 FLG2 . GRCh38 chr1 152351494 152351494 + Missense_Mutation SNP C C A 7316-2663 BS_45VHDFRD C C c.6292G>T p.Ala2098Ser p.A2098S ENST00000388718 3/3 46 34 6 35 33 0 FLG2,missense_variant,p.Ala2098Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 6365/9124 6292/7176 2098/2391 A/S Gct/Tct COSM1491714 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.86) benign(0.001) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS GCT . . 152351494 FLG2 . GRCh38 chr1 152351673 152351673 + Missense_Mutation SNP C C A rs765378483 7316-2663 BS_45VHDFRD C C c.6113G>T p.Gly2038Val p.G2038V ENST00000388718 3/3 47 37 9 44 44 0 FLG2,missense_variant,p.Gly2038Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 6186/9124 6113/7176 2038/2391 G/V gGg/gTg rs765378483 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.3) benign(0.003) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487 MODERATE SNV 5 1 PASS CCC . . 2.043e-05 3.592e-05 3.28e-05 152351673 ZNF648 . GRCh38 chr1 182056768 182056768 + Missense_Mutation SNP A A T rs1234475620 7316-2663 BS_45VHDFRD A A c.1243T>A p.Ser415Thr p.S415T ENST00000339948 2/2 79 70 7 49 48 0 ZNF648,missense_variant,p.Ser415Thr,ENST00000339948,NM_001009992.1;,regulatory_region_variant,,ENSR00000016664,; T ENSG00000179930 ENST00000339948 Transcript missense_variant 1451/3649 1243/1707 415/568 S/T Tcg/Acg rs1234475620,COSM6209606 1 -1 ZNF648 HGNC HGNC:18190 protein_coding YES CCDS30952.1 ENSP00000344129 Q5T619 UPI0000161414 NM_001009992.1 tolerated(0.62) benign(0.02) 2/2 PROSITE_profiles:PS50157,hmmpanther:PTHR45320,Gene3D:2.40.155.10,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 182056768 PRG4 . GRCh38 chr1 186307537 186307537 + Missense_Mutation SNP A A T novel 7316-2663 BS_45VHDFRD A A c.1818A>T p.Lys606Asn p.K606N ENST00000445192 7/13 34 18 6 32 26 0 PRG4,missense_variant,p.Lys606Asn,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Lys565Asn,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Lys563Asn,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Lys513Asn,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Lys472Asn,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,; T ENSG00000116690 ENST00000445192 Transcript missense_variant 1863/5044 1818/4215 606/1404 K/N aaA/aaT 1 1 PRG4 HGNC HGNC:9364 protein_coding YES CCDS1369.1 ENSP00000399679 Q92954 UPI0004620CBB NM_005807.4 tolerated(0.06) benign(0.015) 7/13 hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 5 1 PASS AAG . . 186307537 LBR . GRCh38 chr1 225412649 225412649 + Splice_Region SNP T T A rs1216210580 7316-2663 BS_45VHDFRD T T c.893-4A>T ENST00000338179 59 52 5 36 32 0 LBR,splice_region_variant,,ENST00000272163,NM_002296.3;LBR,splice_region_variant,,ENST00000338179,NM_194442.2;LBR,downstream_gene_variant,,ENST00000487054,;LBR,upstream_gene_variant,,ENST00000424022,; A ENSG00000143815 ENST00000338179 Transcript splice_region_variant,intron_variant rs1216210580,COSM6335674 1 -1 LBR HGNC HGNC:6518 protein_coding YES CCDS1545.1 ENSP00000339883 Q14739 UPI000012E256 NM_194442.2 7/13 0,1 LOW 1 SNV 5 0,1 1 PASS TTA . . 0.001215 0.0004129 0.001007 0.007037 0.000745 0.0008751 0.001045 0.000618 225412649 C2orf16 . GRCh38 chr2 27581715 27581715 + Missense_Mutation SNP A A C novel 7316-2663 BS_45VHDFRD A A c.5143A>C p.Lys1715Gln p.K1715Q ENST00000408964 1/1 32 14 6 40 37 1 C2orf16,missense_variant,p.Lys5119Gln,ENST00000447166,;C2orf16,missense_variant,p.Lys1715Gln,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; C ENSG00000221843 ENST00000408964 Transcript missense_variant 5194/6200 5143/5955 1715/1984 K/Q Aag/Cag 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(0.2) benign(0.006) 1/1 hmmpanther:PTHR33888,hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS TAA . . 27581715 ZNF717 . GRCh38 chr3 75738180 75738180 + Nonsense_Mutation SNP G G T novel 7316-2663 BS_45VHDFRD G G c.1293C>A p.Cys431Ter p.C431* ENST00000478296 4/4 107 81 8 107 99 0 ZNF717,stop_gained,p.Cys431Ter,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; T ENSG00000227124 ENST00000478296 Transcript stop_gained 1570/3875 1293/2595 431/864 C/* tgC/tgA 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 HIGH 1 SNV 5 PASS TGC . . 75738180 PRR23A . GRCh38 chr3 139005550 139005550 + Missense_Mutation SNP A A C 7316-2663 BS_45VHDFRD A A c.719T>G p.Val240Gly p.V240G ENST00000383163 1/1 54 43 9 43 41 1 PRR23A,missense_variant,p.Val240Gly,ENST00000383163,NM_001134659.1;MRPS22,upstream_gene_variant,,ENST00000495075,;,regulatory_region_variant,,ENSR00000306517,; C ENSG00000206260 ENST00000383163 Transcript missense_variant 719/801 719/801 240/266 V/G gTg/gGg COSM4591927 1 -1 PRR23A HGNC HGNC:37172 protein_coding YES CCDS46923.1 ENSP00000372649 A6NEV1 UPI00003671C1 NM_001134659.1 tolerated(0.05) benign(0.154) 1/1 Pfam_domain:PF10630,hmmpanther:PTHR31813,hmmpanther:PTHR31813:SF15,mobidb-lite 1 MODERATE SNV 1 PASS CAC . . 139005550 MUC4 . GRCh38 chr3 195782300 195782300 + Missense_Mutation SNP G G A rs199654280 7316-2663 BS_45VHDFRD G G c.9280C>T p.Leu3094Phe p.L3094F ENST00000463781 2/25 68 50 7 75 68 0 MUC4,missense_variant,p.Leu3094Phe,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Leu3094Phe,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Leu3094Phe,ENST00000478156,;MUC4,missense_variant,p.Leu3094Phe,ENST00000466475,;MUC4,missense_variant,p.Leu3094Phe,ENST00000477756,;MUC4,missense_variant,p.Leu3094Phe,ENST00000477086,;MUC4,missense_variant,p.Leu3094Phe,ENST00000480843,;MUC4,missense_variant,p.Leu3094Phe,ENST00000462323,;MUC4,missense_variant,p.Leu3094Phe,ENST00000470451,;MUC4,missense_variant,p.Leu3094Phe,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 9740/17110 9280/16239 3094/5412 L/F Ctt/Ttt rs199654280,COSM5712226,COSM1136994 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.06) possibly_damaging(0.598) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS AGG . . 195782300 MUC4 . GRCh38 chr3 195782338 195782338 + Missense_Mutation SNP G G A rs79077485 7316-2663 BS_45VHDFRD G G c.9242C>T p.Ala3081Val p.A3081V ENST00000463781 2/25 83 64 9 89 84 1 MUC4,missense_variant,p.Ala3081Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3081Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3081Val,ENST00000478156,;MUC4,missense_variant,p.Ala3081Val,ENST00000466475,;MUC4,missense_variant,p.Ala3081Val,ENST00000477756,;MUC4,missense_variant,p.Ala3081Val,ENST00000477086,;MUC4,missense_variant,p.Ala3081Val,ENST00000480843,;MUC4,missense_variant,p.Ala3081Val,ENST00000462323,;MUC4,missense_variant,p.Ala3081Val,ENST00000470451,;MUC4,missense_variant,p.Ala3081Val,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 9702/17110 9242/16239 3081/5412 A/V gCa/gTa rs79077485,COSM4157657 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.39) possibly_damaging(0.494) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TGC . . 0.0003142 0.000305 0.001859 0.0002643 195782338 MUC4 . GRCh38 chr3 195784642 195784642 + Missense_Mutation SNP G G A rs75599746 7316-2663 BS_45VHDFRD G G c.6938C>T p.Ala2313Val p.A2313V ENST00000463781 2/25 32 15 7 36 29 2 MUC4,missense_variant,p.Ala2313Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala2313Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala2313Val,ENST00000478156,;MUC4,missense_variant,p.Ala2313Val,ENST00000466475,;MUC4,missense_variant,p.Ala2313Val,ENST00000477756,;MUC4,missense_variant,p.Ala2313Val,ENST00000477086,;MUC4,missense_variant,p.Ala2313Val,ENST00000480843,;MUC4,missense_variant,p.Ala2313Val,ENST00000462323,;MUC4,missense_variant,p.Ala2313Val,ENST00000470451,;MUC4,missense_variant,p.Ala2313Val,ENST00000479406,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 7398/17110 6938/16239 2313/5412 A/V gCa/gTa rs75599746,COSM4157771 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.97) possibly_damaging(0.494) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TGC . . 0.001144 0.008399 0.0003457 0.0001809 0.0002834 0.002238 0.001454 0.0004669 0.0001261 195784642 MUC4 . GRCh38 chr3 195785179 195785179 + Missense_Mutation SNP G G A rs1405959184 7316-2663 BS_45VHDFRD G G c.6401C>T p.Pro2134Leu p.P2134L ENST00000463781 2/25 53 37 6 68 62 1 MUC4,missense_variant,p.Pro2134Leu,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2134Leu,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2134Leu,ENST00000478156,;MUC4,missense_variant,p.Pro2134Leu,ENST00000466475,;MUC4,missense_variant,p.Pro2134Leu,ENST00000477756,;MUC4,missense_variant,p.Pro2134Leu,ENST00000477086,;MUC4,missense_variant,p.Pro2134Leu,ENST00000480843,;MUC4,missense_variant,p.Pro2134Leu,ENST00000462323,;MUC4,missense_variant,p.Pro2134Leu,ENST00000470451,;MUC4,missense_variant,p.Pro2134Leu,ENST00000479406,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 6861/17110 6401/16239 2134/5412 P/L cCt/cTt rs1405959184,COSM2945930 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.03) possibly_damaging(0.722) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS AGG . . 6.469e-06 0.0001246 195785179 ZNF732 . GRCh38 chr4 271544 271544 + Missense_Mutation SNP A A T rs369875361 7316-2663 BS_45VHDFRD A A c.1313T>A p.Ile438Lys p.I438K ENST00000419098 4/4 59 43 8 51 51 0 ZNF732,missense_variant,p.Ile438Lys,ENST00000419098,NM_001137608.1;ZNF732,missense_variant,p.Ile437Lys,ENST00000619749,;AC079140.5,upstream_gene_variant,,ENST00000507882,;AC079140.3,upstream_gene_variant,,ENST00000511111,; T ENSG00000186777 ENST00000419098 Transcript missense_variant 1324/2193 1313/1758 438/585 I/K aTa/aAa rs369875361,COSM4159014 1 -1 ZNF732 HGNC HGNC:37138 protein_coding YES CCDS46990.1 ENSP00000415774 B4DXR9 UPI00017A8291 NM_001137608.1 tolerated(0.89) benign(0.006) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF81,PROSITE_patterns:PS00028,Gene3D:2.30.30.380,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TAT . . 271544 MAP3K1 . GRCh38 chr5 56815668 56815668 + Missense_Mutation SNP A A C novel 7316-2663 BS_45VHDFRD A A c.95A>C p.Lys32Thr p.K32T ENST00000399503 1/20 47 39 5 36 34 0 MAP3K1,missense_variant,p.Lys32Thr,ENST00000399503,NM_005921.1;,regulatory_region_variant,,ENSR00000180954,; C ENSG00000095015 ENST00000399503 Transcript missense_variant 95/7011 95/4539 32/1512 K/T aAg/aCg 1 1 MAP3K1 HGNC HGNC:6848 protein_coding YES CCDS43318.1 ENSP00000382423 Q13233 UPI000015153B NM_005921.1 tolerated_low_confidence(0.11) benign(0.023) 1/20 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 1 PASS AAG . . 56815668 ADAMTS2 . GRCh38 chr5 179125085 179125085 + Missense_Mutation SNP T T G rs376054177 7316-2663 BS_45VHDFRD T T c.2846A>C p.Asn949Thr p.N949T ENST00000251582 19/22 68 55 13 43 41 0 ADAMTS2,missense_variant,p.Asn949Thr,ENST00000251582,NM_014244.4;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;ADAMTS2,upstream_gene_variant,,ENST00000523450,; G ENSG00000087116 ENST00000251582 Transcript missense_variant 2948/6754 2846/3636 949/1211 N/T aAc/aCc rs376054177,COSM1721135 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 tolerated(0.08) possibly_damaging(0.798) 19/22 Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,SMART_domains:SM00209,Superfamily_domains:SSF82895 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTT . . 3.39e-05 0.0001338 4.525e-05 3.682e-05 0.000192 179125085 ADAMTS2 . GRCh38 chr5 179125089 179125089 + Missense_Mutation SNP C C T rs758419331 7316-2663 BS_45VHDFRD C C c.2842G>A p.Asp948Asn p.D948N ENST00000251582 19/22 66 56 7 43 42 0 ADAMTS2,missense_variant,p.Asp948Asn,ENST00000251582,NM_014244.4;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;ADAMTS2,upstream_gene_variant,,ENST00000523450,; T ENSG00000087116 ENST00000251582 Transcript missense_variant 2944/6754 2842/3636 948/1211 D/N Gac/Aac rs758419331,COSM1436475 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 tolerated(0.78) benign(0.04) 19/22 Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,SMART_domains:SM00209,Superfamily_domains:SSF82895 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCG . . 179125089 SOBP . GRCh38 chr6 107634271 107634271 + Missense_Mutation SNP T T G novel 7316-2663 BS_45VHDFRD T T c.1427T>G p.Leu476Arg p.L476R ENST00000317357 6/7 59 42 9 29 25 0 SOBP,missense_variant,p.Leu476Arg,ENST00000317357,NM_018013.3;SOBP,upstream_gene_variant,,ENST00000494935,;,regulatory_region_variant,,ENSR00000200728,; G ENSG00000112320 ENST00000317357 Transcript missense_variant 2086/5245 1427/2622 476/873 L/R cTg/cGg 1 1 SOBP HGNC HGNC:29256 protein_coding YES CCDS43488.1 ENSP00000318900 A7XYQ1 UPI0000E6A8ED NM_018013.3 deleterious(0.02) probably_damaging(0.931) 6/7 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23186:SF2,hmmpanther:PTHR23186,Pfam_domain:PF15279 MODERATE 1 SNV 5 1 PASS CTG . . 107634271 TCP10L2 . GRCh38 chr6 167179113 167179113 + Missense_Mutation SNP G G A rs200019718 7316-2663 BS_45VHDFRD G G c.760G>A p.Gly254Arg p.G254R ENST00000366832 6/8 41 34 6 53 52 1 TCP10L2,missense_variant,p.Gly254Arg,ENST00000366832,NM_001145121.1;TCP10L2,missense_variant,p.Gly254Arg,ENST00000283507,;TCP10L2,downstream_gene_variant,,ENST00000464222,; A ENSG00000166984 ENST00000366832 Transcript missense_variant 891/2185 760/1062 254/353 G/R Gga/Aga rs200019718,COSM3921071,COSM3921070 1 1 TCP10L2 HGNC HGNC:21254 protein_coding YES CCDS47514.1 ENSP00000355797 B9ZVM9 UPI0000253B82 NM_001145121.1 tolerated(0.18) probably_damaging(0.996) 6/8 hmmpanther:PTHR10331,hmmpanther:PTHR10331,hmmpanther:PTHR10331:SF25,hmmpanther:PTHR10331:SF25,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CGG . . 0.0712 0.06926 0.04166 0.05829 0.04178 0.06553 0.08281 0.0802 0.09683 167179113 TCP10L2 . GRCh38 chr6 167179117 167179117 + Missense_Mutation SNP T T G rs200932131 7316-2663 BS_45VHDFRD T T c.764T>G p.Val255Gly p.V255G ENST00000366832 6/8 40 33 6 53 52 1 TCP10L2,missense_variant,p.Val255Gly,ENST00000366832,NM_001145121.1;TCP10L2,missense_variant,p.Val255Gly,ENST00000283507,;TCP10L2,downstream_gene_variant,,ENST00000464222,; G ENSG00000166984 ENST00000366832 Transcript missense_variant 895/2185 764/1062 255/353 V/G gTt/gGt rs200932131,COSM3921073,COSM3921072 1 1 TCP10L2 HGNC HGNC:21254 protein_coding YES CCDS47514.1 ENSP00000355797 B9ZVM9 UPI0000253B82 NM_001145121.1 tolerated(0.42) benign(0) 6/8 hmmpanther:PTHR10331,hmmpanther:PTHR10331,hmmpanther:PTHR10331:SF25,hmmpanther:PTHR10331:SF25,mobidb-lite 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GTT . . 0.08305 0.07857 0.04701 0.07019 0.04771 0.07604 0.09749 0.09307 0.1123 167179117 TRGC2 . GRCh38 chr7 38240124 38240124 + Missense_Mutation SNP G G A rs1053763 7316-2663 BS_45VHDFRD G G c.469C>T p.Thr157Met p.T157M ENST00000436911 4/4 50 41 7 42 42 0 TRGC2,missense_variant,p.Thr157Met,ENST00000436911,; A ENSG00000227191 ENST00000436911 Transcript missense_variant 469/1013 470/570 157/189 T/M aCg/aTg rs1053763 1 -1 TRGC2 HGNC HGNC:12276 TR_C_gene YES ENSP00000413437 A0A075B6R6 UPI0000F30369 deleterious(0.04) benign(0.216) 4/4 0.2786 0.2141 0.3473 0.3512 0.2684 0.2526 MODERATE 1 SNV PASS CGT . . 0.1364 0.1875 0.2779 0.07196 0.2726 0.02003 0.1067 0.172 0.1147 38240124 ZNF479 . GRCh38 chr7 57120585 57120585 + Missense_Mutation SNP G G T rs1340227088 7316-2663 BS_45VHDFRD G G c.830C>A p.Ala277Asp p.A277D ENST00000331162 5/5 62 54 8 43 43 0 ZNF479,missense_variant,p.Ala277Asp,ENST00000331162,NM_033273.2;ZNF479,missense_variant,p.Ala277Asp,ENST00000319636,;ZNF479,intron_variant,,ENST00000620639,; T ENSG00000185177 ENST00000331162 Transcript missense_variant 1101/2072 830/1575 277/524 A/D gCc/gAc rs1340227088,COSM747371 1 -1 ZNF479 HGNC HGNC:23258 protein_coding YES CCDS43590.1 ENSP00000333776 Q96JC4 UPI000006E615 NM_033273.2 deleterious(0.01) possibly_damaging(0.882) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF179,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 1 PASS GGC . . 57120585 ZNF117 . GRCh38 chr7 64978480 64978480 + Missense_Mutation SNP C C A 7316-2663 BS_45VHDFRD C C c.1091G>T p.Gly364Val p.G364V ENST00000282869 4/4 52 35 7 42 41 0 ZNF117,missense_variant,p.Gly364Val,ENST00000282869,NM_015852.3;ZNF117,missense_variant,p.Gly364Val,ENST00000620222,NM_001348050.1;ZNF117,intron_variant,,ENST00000610793,;ZNF117,downstream_gene_variant,,ENST00000487644,; A ENSG00000152926 ENST00000282869 Transcript missense_variant 2376/9080 1091/1452 364/483 G/V gGa/gTa COSM216070 1 -1 ZNF117 HGNC HGNC:12897 protein_coding YES CCDS43593.1 ENSP00000282869 Q03924 UPI000049E07A NM_015852.3 deleterious(0) benign(0.215) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF037113,PIRSF_domain:PIRSF037113,PIRSF_domain:PIRSF037113,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF134,hmmpanther:PTHR24384:SF134,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS TCC . . 64978480 ZNF3 . GRCh38 chr7 100071452 100071452 + Missense_Mutation SNP T T A 7316-2663 BS_45VHDFRD T T c.1032A>T p.Glu344Asp p.E344D ENST00000303915 5/5 58 47 5 42 40 0 ZNF3,missense_variant,p.Glu344Asp,ENST00000303915,;ZNF3,missense_variant,p.Glu344Asp,ENST00000299667,NM_032924.4,NM_001278284.1,NM_001278287.1,NM_001318135.1;ZNF3,missense_variant,p.Glu344Asp,ENST00000424697,NM_001278290.1,NM_001318136.1;ZNF3,intron_variant,,ENST00000413658,NM_017715.3,NM_001318137.1;ZNF3,downstream_gene_variant,,ENST00000292393,;ZNF3,downstream_gene_variant,,ENST00000412947,NM_001278292.1,NM_001278291.1;ZNF3,downstream_gene_variant,,ENST00000415068,;ZNF3,downstream_gene_variant,,ENST00000428683,;ZNF3,downstream_gene_variant,,ENST00000441298,;ZNF3,downstream_gene_variant,,ENST00000449785,;ZNF3,non_coding_transcript_exon_variant,,ENST00000487620,;ZNF3,downstream_gene_variant,,ENST00000460331,;ZNF3,downstream_gene_variant,,ENST00000466121,;ZNF3,downstream_gene_variant,,ENST00000485892,; A ENSG00000166526 ENST00000303915 Transcript missense_variant 2000/3473 1032/1341 344/446 E/D gaA/gaT COSM3267586 1 -1 ZNF3 HGNC HGNC:13089 protein_coding YES CCDS43619.1 ENSP00000306372 P17036 UPI000000D9B2 tolerated(0.06) benign(0.111) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF189,hmmpanther:PTHR24377:SF189,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 5 1 PASS ATT . . 100071452 MUC17 . GRCh38 chr7 101033503 101033503 + Missense_Mutation SNP A A T 7316-2663 BS_45VHDFRD A A c.2087A>T p.Asn696Ile p.N696I ENST00000306151 3/13 52 38 6 50 48 0 MUC17,missense_variant,p.Asn696Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asn696Ile,ENST00000379439,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 2151/14247 2087/13482 696/4493 N/I aAc/aTc COSM5763967 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.07) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS AAC . . 101033503 MUC17 . GRCh38 chr7 101038659 101038659 + Missense_Mutation SNP A A G rs775681988 7316-2663 BS_45VHDFRD A A c.7243A>G p.Ser2415Gly p.S2415G ENST00000306151 3/13 50 39 6 45 45 0 MUC17,missense_variant,p.Ser2415Gly,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser2415Gly,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 7307/14247 7243/13482 2415/4493 S/G Agc/Ggc rs775681988,COSM5774377 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.04) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS TAG . . 4.064e-06 8.962e-06 101038659 MUC17 . GRCh38 chr7 101041609 101041609 + Missense_Mutation SNP C C G rs762182801 7316-2663 BS_45VHDFRD C C c.10193C>G p.Thr3398Ser p.T3398S ENST00000306151 3/13 52 43 8 40 38 0 MUC17,missense_variant,p.Thr3398Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr3398Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 10257/14247 10193/13482 3398/4493 T/S aCc/aGc rs762182801 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.042) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS ACC . . 4.097e-06 5.854e-05 101041609 ZBTB10 . GRCh38 chr8 80487166 80487166 + Missense_Mutation SNP A A C novel 7316-2663 BS_45VHDFRD A A c.356A>C p.Asn119Thr p.N119T ENST00000430430 2/7 38 28 8 47 46 0 ZBTB10,missense_variant,p.Asn119Thr,ENST00000430430,;ZBTB10,missense_variant,p.Asn119Thr,ENST00000426744,NM_023929.4;ZBTB10,missense_variant,p.Asn119Thr,ENST00000455036,NM_001105539.2;ZBTB10,intron_variant,,ENST00000379091,NM_001277145.1;ZBTB10,intron_variant,,ENST00000610895,;AC034114.2,downstream_gene_variant,,ENST00000644465,;RF00019,upstream_gene_variant,,ENST00000516058,;AC009812.1,upstream_gene_variant,,ENST00000605948,;,regulatory_region_variant,,ENSR00000226302,; C ENSG00000205189 ENST00000430430 Transcript missense_variant 1135/10132 356/2616 119/871 N/T aAc/aCc 1 1 ZBTB10 HGNC HGNC:30953 protein_coding YES CCDS47880.1 ENSP00000387462 Q96DT7 UPI0000E5AEF3 deleterious_low_confidence(0) probably_damaging(0.977) 2/7 mobidb-lite MODERATE 1 SNV 5 PASS AAC . . 80487166 GPRIN2 . GRCh38 chr10 46550012 46550012 + Missense_Mutation SNP C C T novel 7316-2663 BS_45VHDFRD C C c.725G>A p.Arg242Lys p.R242K ENST00000374317 3/3 112 104 5 79 79 0 GPRIN2,missense_variant,p.Arg242Lys,ENST00000374317,NM_014696.3;GPRIN2,missense_variant,p.Arg242Lys,ENST00000374314,; T ENSG00000204175 ENST00000374317 Transcript missense_variant 998/1966 725/1377 242/458 R/K aGg/aAg 1 -1 GPRIN2 HGNC HGNC:23730 protein_coding YES CCDS73101.1 ENSP00000363436 O60269 UPI000013ECB4 NM_014696.3 deleterious(0.05) benign(0) 3/3 hmmpanther:PTHR15718,hmmpanther:PTHR15718:SF5 MODERATE 1 SNV 3 PASS CCT . . 46550012 CFAP46 . GRCh38 chr10 132918385 132918385 + Splice_Region SNP T T C rs201714283 7316-2663 BS_45VHDFRD T T c.1986+8A>G ENST00000368586 43 28 6 25 23 1 CFAP46,splice_region_variant,,ENST00000368586,NM_001200049.2;CFAP46,upstream_gene_variant,,ENST00000486104,; C ENSG00000171811 ENST00000368586 Transcript splice_region_variant,intron_variant rs201714283,COSM4175642,COSM4175641 1 -1 CFAP46 HGNC HGNC:25247 protein_coding YES CCDS58101.1 ENSP00000357575 Q8IYW2 UPI0001B79116 NM_001200049.2 16/57 0.0042 0.0083 0.0029 0.002 0.005 0.001 0,1,1 LOW 1 SNV 5 0,1,1 PASS ATG . . 0.00383 0.003147 0.002929 0.001088 0.003704 0.00282 0.004639 0.004212 0.004861 132918385 POTEG . GRCh38 chr14 19434005 19434005 + Missense_Mutation SNP C C G novel 7316-2663 BS_45VHDFRD C C c.285G>C p.Arg95Ser p.R95S ENST00000547848 1/11 119 85 12 101 96 0 POTEG,missense_variant,p.Arg95Ser,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Arg95Ser,ENST00000547722,;POTEG,missense_variant,p.Arg95Ser,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; G ENSG00000187537 ENST00000547848 Transcript missense_variant 337/2204 285/1527 95/508 R/S agG/agC 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 tolerated_low_confidence(0.14) possibly_damaging(0.724) 1/11 Gene3D:1.25.40.20,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 MODERATE 1 SNV 1 PASS TCC . . 19434005 AHNAK2 . GRCh38 chr14 104952461 104952461 + Missense_Mutation SNP T T C rs200638785 7316-2663 BS_45VHDFRD T T c.2990A>G p.Lys997Arg p.K997R ENST00000333244 7/7 71 60 10 36 35 0 AHNAK2,missense_variant,p.Lys997Arg,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; C ENSG00000185567 ENST00000333244 Transcript missense_variant 3110/18254 2990/17388 997/5795 K/R aAg/aGg rs200638785,COSM1726495 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.09) benign(0.027) 7/7 Low_complexity_(Seg):seg,hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0,1 MODERATE 1 SNV 5 0,1 PASS CTT . . 0.0004014 0.001682 0.0003944 0.0005154 0.0003347 3.622e-05 0.0003755 0.001474 104952461 GOLGA6L2 . GRCh38 chr15 23440966 23440967 + In_Frame_Ins INS - - TGCTCTTGCATCTTCTCG rs746004439 7316-2663 BS_45VHDFRD - - c.1508_1509insCGAGAAGATGCAAGAGCA p.Glu502_Gln503insHisGluLysMetGlnGlu p.E502_Q503insHEKMQE ENST00000567107 8/8 62 26 10 35 30 0 GOLGA6L2,inframe_insertion,p.Glu502_Gln503insHisGluLysMetGlnGlu,ENST00000567107,NM_001304388.1;GOLGA6L2,inframe_insertion,p.Glu229_Gln230insHisGluLysMetGlnGlu,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; TGCTCTTGCATCTTCTCG ENSG00000174450 ENST00000567107 Transcript inframe_insertion 1561-1562/3030 1508-1509/2730 503/909 Q/HEKMQEQ cag/caCGAGAAGATGCAAGAGCAg rs746004439 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 8/8 Low_complexity_(Seg):seg,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21 MODERATE 1 insertion 5 PASS CCT . . 1.447e-05 3.837e-05 23440966 PRRT2 . GRCh38 chr16 29813689 29813689 + Missense_Mutation SNP A A C novel 7316-2663 BS_45VHDFRD A A c.635A>C p.Asn212Thr p.N212T ENST00000567659 2/3 41 27 10 31 31 0 PRRT2,missense_variant,p.Asn212Thr,ENST00000300797,NM_001256443.1;PRRT2,missense_variant,p.Asn212Thr,ENST00000358758,NM_145239.2;PRRT2,missense_variant,p.Asn212Thr,ENST00000645336,;PRRT2,missense_variant,p.Asn212Thr,ENST00000572820,;PRRT2,missense_variant,p.Asn212Thr,ENST00000637064,;PRRT2,missense_variant,p.Asn212Thr,ENST00000636619,;PRRT2,missense_variant,p.Asn212Thr,ENST00000637403,;PRRT2,missense_variant,p.Asn212Thr,ENST00000567659,NM_001256442.1;PRRT2,intron_variant,,ENST00000567551,;PRRT2,intron_variant,,ENST00000637565,;MAZ,downstream_gene_variant,,ENST00000219782,NM_001042539.2;PAGR1,upstream_gene_variant,,ENST00000320330,NM_024516.3;MAZ,downstream_gene_variant,,ENST00000322945,NM_002383.3;MAZ,downstream_gene_variant,,ENST00000545521,NM_001276275.1;PRRT2,downstream_gene_variant,,ENST00000562148,;MAZ,downstream_gene_variant,,ENST00000562337,NM_001276276.1;MAZ,downstream_gene_variant,,ENST00000562557,;MAZ,downstream_gene_variant,,ENST00000563012,;MAZ,downstream_gene_variant,,ENST00000563402,;MAZ,downstream_gene_variant,,ENST00000566906,;MAZ,downstream_gene_variant,,ENST00000567444,;MAZ,downstream_gene_variant,,ENST00000568282,;MAZ,downstream_gene_variant,,ENST00000568411,;MAZ,downstream_gene_variant,,ENST00000568544,;MAZ,downstream_gene_variant,,ENST00000569978,;MAZ,downstream_gene_variant,,ENST00000616501,;PRRT2,downstream_gene_variant,,ENST00000636246,;PRRT2,upstream_gene_variant,,ENST00000636902,;PRRT2,downstream_gene_variant,,ENST00000637596,;AC009133.1,intron_variant,,ENST00000569039,;AC009133.1,upstream_gene_variant,,ENST00000563806,;AC009133.1,downstream_gene_variant,,ENST00000569809,;AC009133.1,upstream_gene_variant,,ENST00000569981,;PRRT2,non_coding_transcript_exon_variant,,ENST00000636019,;AC009133.5,downstream_gene_variant,,ENST00000562594,;PRRT2,downstream_gene_variant,,ENST00000568516,;PRRT2,downstream_gene_variant,,ENST00000636001,;PRRT2,upstream_gene_variant,,ENST00000637425,;PRRT2,downstream_gene_variant,,ENST00000637542,;PRRT2,missense_variant,p.Asn212Thr,ENST00000636131,;AC009133.6,missense_variant,p.Asn212Thr,ENST00000609618,;PRRT2,missense_variant,p.Met115Leu,ENST00000637290,;MAZ,downstream_gene_variant,,ENST00000561855,;AC120114.5,upstream_gene_variant,,ENST00000562285,;MAZ,downstream_gene_variant,,ENST00000565777,; C ENSG00000167371 ENST00000567659 Transcript missense_variant 833/1470 635/1185 212/394 N/T aAt/aCt 1 1 PRRT2 HGNC HGNC:30500 protein_coding YES CCDS58445.1 ENSP00000456226 Q7Z6L0 UPI00000712B6 NM_001256442.1 deleterious_low_confidence(0) benign(0.208) 2/3 hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF20,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV 2 1 PASS AAT . . 29813689 SHCBP1 . GRCh38 chr16 46618375 46618375 + Splice_Region DEL A A - rs554722005 7316-2663 BS_45VHDFRD A A c.104-3del ENST00000303383 58 47 7 48 44 0 SHCBP1,splice_region_variant,,ENST00000303383,NM_024745.4,NM_001324319.1,NM_001324318.1;SHCBP1,upstream_gene_variant,,ENST00000569702,;AC092368.3,downstream_gene_variant,,ENST00000562549,;AC092368.3,downstream_gene_variant,,ENST00000574180,;SHCBP1,downstream_gene_variant,,ENST00000564272,;SHCBP1,splice_region_variant,,ENST00000566016,;SHCBP1,upstream_gene_variant,,ENST00000565887,; - ENSG00000171241 ENST00000303383 Transcript splice_region_variant,intron_variant rs554722005,TMP_ESP_16_46652287_46652287,COSM4423490 1 -1 SHCBP1 HGNC HGNC:29547 protein_coding YES CCDS10720.1 ENSP00000306473 Q8NEM2 UPI000013E898 NM_024745.4,NM_001324319.1,NM_001324318.1 1/12 0.1627 0.1611 0,0,1 LOW 1 deletion 1 0,0,1 PASS CTAA . . 0.1904 0.1633 0.2374 0.2528 0.1998 0.1016 0.1844 0.2123 0.2488 46618374 DNAAF1 . GRCh38 chr16 84170210 84170210 + Missense_Mutation SNP A A T novel 7316-2663 BS_45VHDFRD A A c.1382A>T p.Asp461Val p.D461V ENST00000378553 8/12 37 25 5 32 30 0 DNAAF1,missense_variant,p.Asp461Val,ENST00000378553,NM_178452.5;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,NM_001318756.1;DNAAF1,downstream_gene_variant,,ENST00000567666,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;DNAAF1,intron_variant,,ENST00000563093,; T ENSG00000154099 ENST00000378553 Transcript missense_variant 1506/2379 1382/2178 461/725 D/V gAt/gTt 1 1 DNAAF1 HGNC HGNC:30539 protein_coding YES CCDS10943.2 ENSP00000367815 Q8NEP3 A0A140VJN4 UPI000059D3C9 NM_178452.5 tolerated(0.47) benign(0.11) 8/12 mobidb-lite MODERATE 1 SNV 1 1 PASS GAT . . 84170210 MUC16 . GRCh38 chr19 8936304 8936304 + Missense_Mutation SNP G G T 7316-2663 BS_45VHDFRD G G c.34651C>A p.Pro11551Thr p.P11551T ENST00000397910 5/84 59 52 5 33 33 0 MUC16,missense_variant,p.Pro11551Thr,ENST00000397910,NM_024690.2; T ENSG00000181143 ENST00000397910 Transcript missense_variant 34855/43816 34651/43524 11551/14507 P/T Cct/Act COSM4289174,COSM4289173 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0) 5/84 hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 1,1 MODERATE 1 SNV 5 1,1 1 PASS GGG . . 8936304 ZNF44 . GRCh38 chr19 12273016 12273016 + Missense_Mutation SNP C C A novel 7316-2663 BS_45VHDFRD C C c.1383G>T p.Arg461Ser p.R461S ENST00000356109 5/5 51 42 5 48 47 0 ZNF44,missense_variant,p.Arg461Ser,ENST00000356109,NM_001164276.1,NM_001353550.1,NM_001353552.1,NM_001353553.1;ZNF44,missense_variant,p.Arg413Ser,ENST00000355684,NM_016264.3;ZNF44,missense_variant,p.Arg461Ser,ENST00000393337,;ZNF44,missense_variant,p.Arg413Ser,ENST00000397742,;ZNF44,intron_variant,,ENST00000600003,;ZNF44,downstream_gene_variant,,ENST00000354656,; A ENSG00000197857 ENST00000356109 Transcript missense_variant 1502/2706 1383/1992 461/663 R/S agG/agT 1 -1 ZNF44 HGNC HGNC:13110 protein_coding YES CCDS54223.1 ENSP00000348419 P15621 UPI00017A7462 NM_001164276.1,NM_001353550.1,NM_001353552.1,NM_001353553.1 deleterious(0.02) possibly_damaging(0.769) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF17,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS TCC . . 12273016 ZNF791 . GRCh38 chr19 12628430 12628430 + Missense_Mutation SNP A A G rs1172893327 7316-2663 BS_45VHDFRD A A c.901A>G p.Lys301Glu p.K301E ENST00000343325 4/4 68 59 7 48 46 0 ZNF791,missense_variant,p.Lys301Glu,ENST00000343325,NM_153358.2;ZNF791,3_prime_UTR_variant,,ENST00000446165,;ZNF791,downstream_gene_variant,,ENST00000600752,;ZNF490,intron_variant,,ENST00000465656,;ZNF791,downstream_gene_variant,,ENST00000597691,;ZNF791,downstream_gene_variant,,ENST00000598225,; G ENSG00000173875 ENST00000343325 Transcript missense_variant 1063/4554 901/1731 301/576 K/E Aaa/Gaa rs1172893327 1 1 ZNF791 HGNC HGNC:26895 protein_coding YES CCDS12273.1 ENSP00000342974 Q3KP31 UPI0000203455 NM_153358.2 tolerated(1) benign(0.003) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF26,Gene3D:2.30.30.380,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TAA . . 12628430 ZNF506 . GRCh38 chr19 19794939 19794939 + Missense_Mutation SNP C C A rs554073130 7316-2663 BS_45VHDFRD C C c.948G>T p.Glu316Asp p.E316D ENST00000443905 4/6 56 42 10 42 41 0 ZNF506,missense_variant,p.Glu316Asp,ENST00000443905,;ZNF506,missense_variant,p.Glu316Asp,ENST00000540806,NM_001099269.2;ZNF506,missense_variant,p.Glu284Asp,ENST00000450683,NM_001145404.1;ZNF506,intron_variant,,ENST00000587461,;ZNF506,intron_variant,,ENST00000590766,;ZNF506,downstream_gene_variant,,ENST00000545006,;ZNF506,downstream_gene_variant,,ENST00000587452,;ZNF506,downstream_gene_variant,,ENST00000590319,;AC011477.4,intron_variant,,ENST00000590274,;AC011477.2,upstream_gene_variant,,ENST00000590697,;AC011477.1,intron_variant,,ENST00000589657,;AC011477.1,intron_variant,,ENST00000591884,;ZNF506,missense_variant,p.Glu316Asp,ENST00000591639,;ZNF506,intron_variant,,ENST00000586260,;ZNF506,downstream_gene_variant,,ENST00000587822,; A ENSG00000081665 ENST00000443905 Transcript missense_variant 1054/4095 948/1335 316/444 E/D gaG/gaT rs554073130,COSM4076043,COSM1723401 1 -1 ZNF506 HGNC HGNC:23780 protein_coding YES CCDS42531.1 ENSP00000393835 Q5JVG8 UPI00001B6472 tolerated(0.05) benign(0.327) 4/6 Gene3D:2.20.25.10,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF180,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0002 0.0014 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CCT . . 19794939 ZNF737 . GRCh38 chr19 20545064 20545064 + Missense_Mutation SNP C C G rs781937866 7316-2663 BS_45VHDFRD C C c.1139G>C p.Trp380Ser p.W380S ENST00000427401 4/4 36 26 7 52 51 1 ZNF737,missense_variant,p.Trp380Ser,ENST00000427401,NM_001159293.1;ZNF737,downstream_gene_variant,,ENST00000594419,;ZNF737,upstream_gene_variant,,ENST00000596530,;ZNF737,downstream_gene_variant,,ENST00000597940,; G ENSG00000237440 ENST00000427401 Transcript missense_variant 1234/2867 1139/1611 380/536 W/S tGg/tCg rs781937866,COSM5018029,COSM400554 1 -1 ZNF737 HGNC HGNC:32468 protein_coding YES CCDS54238.1 ENSP00000395733 O75373 UPI0000198506 NM_001159293.1 tolerated(0.5) benign(0.014) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CCA . . 4.091e-06 5.852e-05 20545064 ZNF66 . GRCh38 chr19 20806598 20806598 + Missense_Mutation SNP G G T rs772323647 7316-2663 BS_45VHDFRD G G c.998G>T p.Arg333Ile p.R333I ENST00000344519 4/4 52 35 13 50 49 0 ZNF66,missense_variant,p.Arg333Ile,ENST00000344519,; T ENSG00000160229 ENST00000344519 Transcript missense_variant 1021/1745 998/1722 333/573 R/I aGa/aTa rs772323647,COSM993589,COSM1589942 1 1 ZNF66 HGNC HGNC:13135 protein_coding YES ENSP00000461425 Q6ZN08 UPI00025A2C0A tolerated(0.44) benign(0.023) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 3 0,1,1 PASS AGA . . 1.244e-05 5.99e-05 5.836e-05 20806598 ZNF43 . GRCh38 chr19 21809009 21809009 + Missense_Mutation SNP G G T rs149679417 7316-2663 BS_45VHDFRD G G c.1055C>A p.Thr352Lys p.T352K ENST00000357491 4/4 58 47 9 62 61 1 ZNF43,missense_variant,p.Thr337Lys,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Thr352Lys,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Thr337Lys,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Thr337Lys,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Thr343Lys,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 1189/5249 1055/2457 352/818 T/K aCa/aAa rs149679417,COSM388503 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(1) benign(0.022) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TGT . . 21809009 ZNF257 . GRCh38 chr19 22088853 22088853 + Missense_Mutation SNP A A T 7316-2663 BS_45VHDFRD A A c.1103A>T p.Lys368Ile p.K368I ENST00000594947 4/4 53 36 7 41 38 0 ZNF257,missense_variant,p.Lys368Ile,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; T ENSG00000197134 ENST00000594947 Transcript missense_variant 1247/3874 1103/1692 368/563 K/I aAa/aTa COSM6991452 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 deleterious(0.01) benign(0.024) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:2.30.30.380,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS AAA . . 22088853 ZNF681 . GRCh38 chr19 23743779 23743779 + Missense_Mutation SNP G G T rs1277093508 7316-2663 BS_45VHDFRD G G c.1771C>A p.Gln591Lys p.Q591K ENST00000402377 4/4 59 46 10 53 51 1 ZNF681,missense_variant,p.Gln591Lys,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,; T ENSG00000196172 ENST00000402377 Transcript missense_variant 1913/6497 1771/1938 591/645 Q/K Caa/Aaa rs1277093508,COSM5018580,COSM5018579 1 -1 ZNF681 HGNC HGNC:26457 protein_coding YES CCDS12414.2 ENSP00000384000 Q96N22 UPI000022ABC8 NM_138286.2 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,Gene3D:2.20.25.10,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TGG . . 23743779 KMT2B . GRCh38 chr19 35718076 35718076 + Missense_Mutation SNP T T G novel 7316-2663 BS_45VHDFRD T T c.58T>G p.Phe20Val p.F20V ENST00000420124 1/37 33 25 7 38 38 0 KMT2B,missense_variant,p.Phe20Val,ENST00000420124,NM_014727.2;ZBTB32,downstream_gene_variant,,ENST00000262630,;ZBTB32,downstream_gene_variant,,ENST00000392197,NM_014383.2,NM_001316902.1;ZBTB32,downstream_gene_variant,,ENST00000426659,NM_001316903.1;ZBTB32,downstream_gene_variant,,ENST00000442282,;ZBTB32,downstream_gene_variant,,ENST00000451726,;KMT2B,upstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000481182,;,regulatory_region_variant,,ENSR00000109057,; G ENSG00000272333 ENST00000420124 Transcript missense_variant 58/8469 58/8148 20/2715 F/V Ttc/Gtc 1 1 KMT2B HGNC HGNC:15840 protein_coding YES CCDS46055.1 ENSP00000398837 Q9UMN6 UPI00001376B5 NM_014727.2 deleterious_low_confidence(0.02) benign(0.014) 1/37 PIRSF_domain:PIRSF010354,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CTT . . 35718076 GRWD1 . GRCh38 chr19 48451067 48451067 + Missense_Mutation SNP C C T rs149086809 7316-2663 BS_45VHDFRD C C c.859C>T p.Arg287Cys p.R287C ENST00000253237 6/7 40 26 14 43 42 0 GRWD1,missense_variant,p.Arg287Cys,ENST00000253237,NM_031485.3;GRWD1,missense_variant,p.Arg184Cys,ENST00000598711,;KCNJ14,upstream_gene_variant,,ENST00000342291,NM_013348.3;GRWD1,downstream_gene_variant,,ENST00000599949,; T ENSG00000105447 ENST00000253237 Transcript missense_variant 1092/5571 859/1341 287/446 R/C Cgc/Tgc rs149086809,COSM6676317 1 1 GRWD1 HGNC HGNC:21270 protein_coding YES CCDS12720.1 ENSP00000253237 Q9BQ67 UPI000012BB5B NM_031485.3 deleterious(0) probably_damaging(0.993) 6/7 Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF6,SMART_domains:SM00320,Superfamily_domains:SSF50978 0.0006 0.0015 0.0014 0.000227 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 8.133e-05 0.0003924 0.0001787 5.801e-05 5.382e-05 3.249e-05 48451067 ZNF534 . GRCh38 chr19 52439294 52439294 + Missense_Mutation SNP A A G rs375194636 7316-2663 BS_45VHDFRD A A c.1873A>G p.Ser625Gly p.S625G ENST00000332323 4/4 59 49 5 34 34 0 ZNF534,missense_variant,p.Ser625Gly,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Ser612Gly,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1; G ENSG00000198633 ENST00000332323 Transcript missense_variant 1934/2086 1873/2025 625/674 S/G Agc/Ggc rs375194636 1 1 ZNF534 HGNC HGNC:26337 protein_coding YES CCDS46165.1 ENSP00000327538 Q76KX8 UPI0000351984 NM_001143939.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF187,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0.0003143 MODERATE 1 SNV 1 PASS TAG . . 1.194e-05 5.707e-05 1.468e-05 52439294 ZNF701 . GRCh38 chr19 52582987 52582987 + Missense_Mutation SNP C C A rs759595951 7316-2663 BS_45VHDFRD C C c.1126C>A p.Gln376Lys p.Q376K ENST00000540331 5/5 63 54 9 26 26 0 ZNF701,missense_variant,p.Gln376Lys,ENST00000540331,NM_001172655.1;ZNF701,missense_variant,p.Gln310Lys,ENST00000391785,NM_018260.2;ZNF701,missense_variant,p.Gln376Lys,ENST00000301093,;ZNF701,downstream_gene_variant,,ENST00000593941,;ZNF701,downstream_gene_variant,,ENST00000596514,;AC022150.1,intron_variant,,ENST00000599222,; A ENSG00000167562 ENST00000540331 Transcript missense_variant 1351/5538 1126/1596 376/531 Q/K Caa/Aaa rs759595951 1 1 ZNF701 HGNC HGNC:25597 protein_coding YES CCDS54311.1 ENSP00000444339 Q9NV72 UPI0001C53D22 NM_001172655.1 tolerated(1) benign(0) 5/5 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF383,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ACA . . 52582987 ZNF460 . GRCh38 chr19 57291307 57291307 + Missense_Mutation SNP G G C rs1228838398 7316-2663 BS_45VHDFRD G G c.766G>C p.Glu256Gln p.E256Q ENST00000360338 3/3 60 54 5 35 35 0 ZNF460,missense_variant,p.Glu256Gln,ENST00000360338,NM_006635.3;ZNF460,missense_variant,p.Glu215Gln,ENST00000537645,;ZNF460,downstream_gene_variant,,ENST00000599602,;AC005261.5,downstream_gene_variant,,ENST00000623072,; C ENSG00000197714 ENST00000360338 Transcript missense_variant 1088/3350 766/1689 256/562 E/Q Gaa/Caa rs1228838398 1 1 ZNF460 HGNC HGNC:21628 protein_coding YES CCDS12949.1 ENSP00000353491 Q14592 UPI0000202D11 NM_006635.3 tolerated(0.05) benign(0.131) 3/3 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF15,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TGA . . 4.063e-06 0.0001825 57291307 UMODL1 . GRCh38 chr21 42111354 42111354 + Missense_Mutation SNP A A T novel 7316-2663 BS_45VHDFRD A A c.2132A>T p.Glu711Val p.E711V ENST00000408989 11/22 75 49 16 33 30 0 UMODL1,missense_variant,p.Glu639Val,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Glu711Val,ENST00000408989,NM_173568.3;UMODL1,intron_variant,,ENST00000400424,NM_001199528.2;UMODL1,intron_variant,,ENST00000408910,NM_001004416.2;UMODL1-AS1,upstream_gene_variant,,ENST00000329015,;UMODL1,upstream_gene_variant,,ENST00000475047,; T ENSG00000177398 ENST00000408989 Transcript missense_variant 2132/5262 2132/4341 711/1446 E/V gAg/gTg 1 1 UMODL1 HGNC HGNC:12560 protein_coding YES CCDS42935.1 ENSP00000386126 Q5DID0 UPI0000D6254B NM_173568.3 tolerated(0.33) benign(0) 11/22 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:2.40.155.10,hmmpanther:PTHR45146 MODERATE 1 SNV 1 PASS GAG . . 42111354 KRTAP10-11 . GRCh38 chr21 44647005 44647005 + Missense_Mutation SNP T T C rs587745520 7316-2663 BS_45VHDFRD T T c.547T>C p.Ser183Pro p.S183P ENST00000334670 1/1 44 33 7 35 31 1 KRTAP10-11,missense_variant,p.Ser183Pro,ENST00000334670,NM_198692.2;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000642437,; C ENSG00000243489 ENST00000334670 Transcript missense_variant 592/1237 547/897 183/298 S/P Tcc/Ccc rs587745520,COSM1566033 1 1 KRTAP10-11 HGNC HGNC:20528 protein_coding YES CCDS42962.1 ENSP00000334197 P60412 UPI000040FC94 NM_198692.2 tolerated(1) benign(0) 1/1 Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF125,Low_complexity_(Seg):seg 0.0014 0.0015 0.001 0.0041 0,1 MODERATE SNV 0,1 PASS CTC . . 8.53e-05 0.0005798 8.059e-05 6.497e-05 44647005 FAM229A . GRCh38 chr1 32361824 32361824 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.187T>G p.Phe63Val p.F63V ENST00000432622 2/3 92 83 9 36 35 0 FAM229A,missense_variant,p.Phe63Val,ENST00000432622,NM_001167676.1;FAM229A,missense_variant,p.Phe1Val,ENST00000428500,;TSSK3,intron_variant,,ENST00000574315,;BSDC1,downstream_gene_variant,,ENST00000341071,NM_001300958.1;TSSK3,upstream_gene_variant,,ENST00000373534,NM_052841.3;BSDC1,downstream_gene_variant,,ENST00000419121,NM_001143889.2;BSDC1,downstream_gene_variant,,ENST00000446293,NM_001143888.2;BSDC1,downstream_gene_variant,,ENST00000455895,NM_018045.7;BSDC1,downstream_gene_variant,,ENST00000526031,NM_001143890.2;FAM229A,non_coding_transcript_exon_variant,,ENST00000415596,;FAM229A,non_coding_transcript_exon_variant,,ENST00000416512,;BSDC1,downstream_gene_variant,,ENST00000444377,;,regulatory_region_variant,,ENSR00000004351,; C ENSG00000225828 ENST00000432622 Transcript missense_variant 339/699 187/384 63/127 F/V Ttc/Gtc 1 -1 FAM229A HGNC HGNC:44652 protein_coding YES CCDS57985.1 ENSP00000455971 H3BQW9 UPI0000252147 NM_001167676.1 deleterious_low_confidence(0) benign(0.402) 2/3 mobidb-lite,hmmpanther:PTHR35355,hmmpanther:PTHR35355:SF1,Pfam_domain:PF14982 MODERATE SNV 2 PASS AAT . . 32361824 MAP7D1 . GRCh38 chr1 36156418 36156418 + Translation_Start_Site SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.1A>C p.Met1? p.M1? ENST00000373151 1/17 93 73 10 31 30 0 MAP7D1,start_lost,p.Met1?,ENST00000316156,NM_001286365.1;MAP7D1,start_lost,p.Met1?,ENST00000373151,NM_018067.4;MAP7D1,start_lost,p.Met1?,ENST00000373150,NM_001286366.1;MAP7D1,intron_variant,,ENST00000429533,;MAP7D1,upstream_gene_variant,,ENST00000530729,;TRAPPC3,upstream_gene_variant,,ENST00000617904,NM_001270895.1;MAP7D1,non_coding_transcript_exon_variant,,ENST00000527764,;,regulatory_region_variant,,ENSR00000004753,; C ENSG00000116871 ENST00000373151 Transcript start_lost 217/3324 1/2526 1/841 M/L Atg/Ctg 1 1 MAP7D1 HGNC HGNC:25514 protein_coding YES CCDS30673.1 ENSP00000362244 Q3KQU3 UPI00005C3036 NM_018067.4 deleterious_low_confidence(0) benign(0.021) 1/17 mobidb-lite HIGH 1 SNV 1 PASS CAT . . 36156418 CITED4 . GRCh38 chr1 40861815 40861815 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.313A>C p.Asn105His p.N105H ENST00000372638 1/1 70 58 11 24 23 0 CITED4,missense_variant,p.Asn105His,ENST00000372638,NM_133467.2;AC119677.1,upstream_gene_variant,,ENST00000414199,;,regulatory_region_variant,,ENSR00000005267,; G ENSG00000179862 ENST00000372638 Transcript missense_variant 552/1316 313/555 105/184 N/H Aac/Cac 1 -1 CITED4 HGNC HGNC:18696 protein_coding YES CCDS458.1 ENSP00000361721 Q96RK1 UPI000004241F NM_133467.2 tolerated(0.13) benign(0.202) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR17045:SF5,hmmpanther:PTHR17045 MODERATE SNV PASS TTG . . 40861815 NBPF9 . GRCh38 chr1 149075662 149075662 + Missense_Mutation SNP G G C rs9442084 7316-400 BS_QYQNZDD8 G G c.981C>G p.Asn327Lys p.N327K ENST00000615421 11/29 58 43 14 22 22 0 NBPF9,missense_variant,p.Asn327Lys,ENST00000615421,;NBPF9,missense_variant,p.Asn327Lys,ENST00000621645,;NBPF9,missense_variant,p.Asn327Lys,ENST00000584027,NM_001277444.1;NBPF9,missense_variant,p.Asn327Lys,ENST00000613969,;NBPF9,missense_variant,p.Asn327Lys,ENST00000613595,NM_001037675.3;NBPF9,missense_variant,p.Asn327Lys,ENST00000621074,;NBPF9,missense_variant,p.Asn327Lys,ENST00000610300,;NBPF9,missense_variant,p.Asn56Lys,ENST00000483630,;,regulatory_region_variant,,ENSR00000013304,; C ENSG00000269713 ENST00000615421 Transcript missense_variant 1851/5835 981/3336 327/1111 N/K aaC/aaG rs9442084 1 -1 NBPF9 HGNC HGNC:31991 protein_coding YES CCDS72896.1 ENSP00000477979 P0DPF3 UPI000292EE30 tolerated(1) benign(0) 11/29 hmmpanther:PTHR14199:SF28,hmmpanther:PTHR14199 MODERATE 1 SNV 5 PASS TGT . . 149075662 FLG2 . GRCh38 chr1 152353248 152353248 + Missense_Mutation SNP C C A 7316-400 BS_QYQNZDD8 C C c.4538G>T p.Gly1513Val p.G1513V ENST00000388718 3/3 81 70 10 35 34 0 FLG2,missense_variant,p.Gly1513Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 4611/9124 4538/7176 1513/2391 G/V gGc/gTc COSM5745715,COSM1319965 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.36) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1,1 MODERATE SNV 5 1,1 1 PASS GCC . . 152353248 FLG2 . GRCh38 chr1 152356111 152356111 + Missense_Mutation SNP A A T 7316-400 BS_QYQNZDD8 A A c.1675T>A p.Tyr559Asn p.Y559N ENST00000388718 3/3 77 62 12 29 27 0 FLG2,missense_variant,p.Tyr559Asn,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 1748/9124 1675/7176 559/2391 Y/N Tat/Aat COSM1334186 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.11) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 1 MODERATE SNV 5 1 1 PASS TAT . . 152356111 KCNN3 . GRCh38 chr1 154708110 154708112 + In_Frame_Del DEL GCT GCT - rs149440400 7316-400 BS_QYQNZDD8 GCT GCT c.2105_2107del p.Gln702del p.Q702del ENST00000618040 9/9 86 78 5 29 28 0 KCNN3,inframe_deletion,p.Gln702del,ENST00000618040,NM_001204087.1;KCNN3,inframe_deletion,p.Gln687del,ENST00000271915,NM_002249.5;KCNN3,inframe_deletion,p.Gln382del,ENST00000361147,NM_170782.2;KCNN3,inframe_deletion,p.Gln374del,ENST00000358505,;KCNN3,non_coding_transcript_exon_variant,,ENST00000515643,; - ENSG00000143603 ENST00000618040 Transcript inframe_deletion 2419-2421/13057 2105-2107/2241 702-703/746 QL/L cAGCtc/ctc rs149440400,COSM896648,COSM1583456 1 -1 KCNN3 HGNC HGNC:6292 protein_coding YES CCDS72928.1 ENSP00000481848 A0A087WYJ0 UPI0001F936D2 NM_001204087.1 9/9 Gene3D:1.10.287.70,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF40 0,1,1 MODERATE 1 deletion 5 0,1,1 PASS GAGCTG . . 1.239e-05 3.035e-05 5.901e-05 4.579e-05 154708109 KCNJ9 . GRCh38 chr1 160084044 160084044 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.14A>C p.Asn5Thr p.N5T ENST00000368088 2/3 80 58 15 32 32 0 KCNJ9,missense_variant,p.Asn5Thr,ENST00000368088,NM_004983.2;AL121987.1,downstream_gene_variant,,ENST00000435580,;,regulatory_region_variant,,ENSR00000014498,; C ENSG00000162728 ENST00000368088 Transcript missense_variant 256/4170 14/1182 5/393 N/T aAc/aCc 1 1 KCNJ9 HGNC HGNC:6270 protein_coding YES CCDS1194.1 ENSP00000357067 Q92806 UPI000013E1B3 NM_004983.2 tolerated(0.19) benign(0.017) 2/3 mobidb-lite,hmmpanther:PTHR11767:SF17,hmmpanther:PTHR11767,PIRSF_domain:PIRSF005465,Prints_domain:PR01329 MODERATE 1 SNV 1 PASS AAC . . 160084044 OR2T33 . GRCh38 chr1 248273507 248273507 + Missense_Mutation SNP G G A rs61832700 7316-400 BS_QYQNZDD8 G G c.308C>T p.Pro103Leu p.P103L ENST00000641220 2/2 71 57 14 38 38 0 OR2T33,missense_variant,p.Pro103Leu,ENST00000641220,;OR2T33,missense_variant,p.Pro103Leu,ENST00000318021,NM_001004695.1; A ENSG00000177212 ENST00000641220 Transcript missense_variant 528/4118 308/963 103/320 P/L cCc/cTc rs61832700,COSM3997408 1 -1 OR2T33 HGNC HGNC:31255 protein_coding YES CCDS31109.1 ENSP00000493437 Q8NG76 UPI000004B237 tolerated(1) benign(0) 2/2 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15421 0,1 MODERATE 1 SNV 0,1 PASS GGG . . 0.3462 0.276 0.3136 0.3866 0.1906 0.4418 0.3907 0.3286 0.258 248273507 DCDC2C . GRCh38 chr2 3703819 3703819 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.68A>C p.Asn23Thr p.N23T ENST00000399143 1/11 113 96 13 29 29 0 DCDC2C,missense_variant,p.Asn23Thr,ENST00000399143,NM_001287444.1;ALLC,downstream_gene_variant,,ENST00000252505,NM_018436.3;AC010907.1,intron_variant,,ENST00000441632,;ALLC,downstream_gene_variant,,ENST00000471711,;ALLC,downstream_gene_variant,,ENST00000476389,;,regulatory_region_variant,,ENSR00000112122,;,regulatory_region_variant,,ENSR00000289535,; C ENSG00000214866 ENST00000399143 Transcript missense_variant 228/1476 68/1095 23/364 N/T aAc/aCc 1 1 DCDC2C HGNC HGNC:32696 protein_coding YES CCDS74481.1 ENSP00000382097 A8MYV0 UPI0002742D44 NM_001287444.1 deleterious(0) probably_damaging(1) 1/11 Gene3D:3.10.20.230,PROSITE_profiles:PS50309,hmmpanther:PTHR23004,hmmpanther:PTHR23004:SF9,SMART_domains:SM00537,Superfamily_domains:SSF89837,cd01617 MODERATE SNV 5 PASS AAC . . 3703819 GFPT1 . GRCh38 chr2 69387070 69387070 + Translation_Start_Site SNP A A C rs1416585953 7316-400 BS_QYQNZDD8 A A c.2T>G p.Met1? p.M1? ENST00000357308 1/20 81 66 8 30 30 0 GFPT1,start_lost,p.Met1?,ENST00000357308,NM_001244710.1;GFPT1,start_lost,p.Met1?,ENST00000361060,NM_002056.3;GFPT1,non_coding_transcript_exon_variant,,ENST00000494201,;,regulatory_region_variant,,ENSR00000118552,; C ENSG00000198380 ENST00000357308 Transcript start_lost 185/8703 2/2100 1/699 M/R aTg/aGg rs1416585953,CD136904 1 -1 GFPT1 HGNC HGNC:4241 protein_coding YES CCDS58713.1 ENSP00000349860 Q06210 UPI000015C8AD NM_001244710.1 deleterious(0) benign(0.432) 1/20 hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF2 HIGH 1 SNV 5 0,1 1 PASS CAT . . 7.665e-06 2.031e-05 69387070 D2HGDH . GRCh38 chr2 241735264 241735264 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.40T>G p.Leu14Val p.L14V ENST00000321264 2/10 104 89 11 26 26 0 D2HGDH,missense_variant,p.Leu14Val,ENST00000321264,NM_152783.4,NM_001352824.1;D2HGDH,intron_variant,,ENST00000403782,NM_001287249.1;AC114730.1,non_coding_transcript_exon_variant,,ENST00000400768,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000463932,;D2HGDH,missense_variant,p.Leu14Val,ENST00000436747,;D2HGDH,missense_variant,p.Leu14Val,ENST00000400769,;,regulatory_region_variant,,ENSR00000133322,; G ENSG00000180902 ENST00000321264 Transcript missense_variant 249/2617 40/1566 14/521 L/V Ttg/Gtg 1 1 D2HGDH HGNC HGNC:28358 protein_coding YES CCDS33426.1 ENSP00000315351 Q8N465 UPI0000456F51 NM_152783.4,NM_001352824.1 tolerated(0.34) benign(0.037) 2/10 Cleavage_site_(Signalp):SignalP-noTM MODERATE 1 SNV 1 1 PASS GTT . . 241735264 MUC4 . GRCh38 chr3 195785165 195785165 + Missense_Mutation SNP T T A rs1471617501 7316-400 BS_QYQNZDD8 T T c.6415A>T p.Thr2139Ser p.T2139S ENST00000463781 2/25 138 107 15 52 47 0 MUC4,missense_variant,p.Thr2139Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr2139Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr2139Ser,ENST00000478156,;MUC4,missense_variant,p.Thr2139Ser,ENST00000466475,;MUC4,missense_variant,p.Thr2139Ser,ENST00000477756,;MUC4,missense_variant,p.Thr2139Ser,ENST00000477086,;MUC4,missense_variant,p.Thr2139Ser,ENST00000480843,;MUC4,missense_variant,p.Thr2139Ser,ENST00000462323,;MUC4,missense_variant,p.Thr2139Ser,ENST00000470451,;MUC4,missense_variant,p.Thr2139Ser,ENST00000479406,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 6875/17110 6415/16239 2139/5412 T/S Aca/Tca rs1471617501 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.02) benign(0.301) 2/25 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS GTG . . 195785165 AC116565.1 . GRCh38 chr4 575814 575814 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.249A>C p.Glu83Asp p.E83D ENST00000610212 1/1 70 50 17 22 21 0 AC116565.1,missense_variant,p.Glu83Asp,ENST00000610212,;AC116565.2,upstream_gene_variant,,ENST00000637674,; G ENSG00000273238 ENST00000610212 Transcript missense_variant 487/2421 249/1158 83/385 E/D gaA/gaC 1 -1 AC116565.1 Clone_based_ensembl_gene protein_coding YES ENSP00000493161 A0A286YF58 UPI00024CAC03 benign(0) 1/1 mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS GTT . . 575814 SLC10A4 . GRCh38 chr4 48483814 48483814 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.253T>G p.Phe85Val p.F85V ENST00000273861 1/3 106 82 20 42 41 0 SLC10A4,missense_variant,p.Phe85Val,ENST00000273861,NM_152679.3;,regulatory_region_variant,,ENSR00000168127,; G ENSG00000145248 ENST00000273861 Transcript missense_variant 472/1790 253/1314 85/437 F/V Ttc/Gtc 1 1 SLC10A4 HGNC HGNC:22980 protein_coding YES CCDS3482.1 ENSP00000273861 Q96EP9 UPI000006E8DB NM_152679.3 deleterious(0.02) benign(0) 1/3 hmmpanther:PTHR10361:SF41,hmmpanther:PTHR10361 MODERATE 1 SNV 1 PASS GTT . . 48483814 COQ2 . GRCh38 chr4 83284803 83284803 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.112A>C p.Met38Leu p.M38L ENST00000311469 1/7 80 67 11 28 28 0 COQ2,missense_variant,p.Met38Leu,ENST00000311469,NM_015697.7;COQ2,5_prime_UTR_variant,,ENST00000647002,NM_001358921.1;COQ2,upstream_gene_variant,,ENST00000311461,;COQ2,upstream_gene_variant,,ENST00000514935,;COQ2,upstream_gene_variant,,ENST00000503391,;,regulatory_region_variant,,ENSR00000170095,; G ENSG00000173085 ENST00000311469 Transcript missense_variant 112/1639 112/1266 38/421 M/L Atg/Ctg 1 -1 COQ2 HGNC HGNC:25223 protein_coding YES CCDS47090.2 ENSP00000310873 Q96H96 UPI0000D6158E NM_015697.7 tolerated_low_confidence(0.16) benign(0.001) 1/7 MODERATE 1 SNV 1 1 PASS ATT . . 83284803 DCLK2 . GRCh38 chr4 150079069 150079069 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.42A>C p.Glu14Asp p.E14D ENST00000302176 1/17 62 55 7 37 37 0 DCLK2,missense_variant,p.Glu14Asp,ENST00000296550,NM_001040260.3;DCLK2,missense_variant,p.Glu14Asp,ENST00000302176,NM_001040261.4;DCLK2,missense_variant,p.Glu14Asp,ENST00000506325,;DCLK2,missense_variant,p.Glu14Asp,ENST00000635524,;DCLK2,missense_variant,p.Glu14Asp,ENST00000411937,;,regulatory_region_variant,,ENSR00000174638,; C ENSG00000170390 ENST00000302176 Transcript missense_variant 42/3543 42/2352 14/783 E/D gaA/gaC 1 1 DCLK2 HGNC HGNC:19002 protein_coding YES CCDS47142.2 ENSP00000303887 Q8N568 UPI0000D615C9 NM_001040261.4 deleterious_low_confidence(0.03) probably_damaging(0.999) 1/17 hmmpanther:PTHR44113,hmmpanther:PTHR44113:SF3,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 150079069 MAST4 . GRCh38 chr5 66596896 66596896 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.241T>G p.Trp81Gly p.W81G ENST00000403625 1/29 111 91 15 29 28 0 MAST4,missense_variant,p.Trp81Gly,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Trp81Gly,ENST00000406374,NM_198828.2;MAST4,missense_variant,p.Trp81Gly,ENST00000406039,NM_001290228.1;,regulatory_region_variant,,ENSR00000181667,; G ENSG00000069020 ENST00000403625 Transcript missense_variant 536/10711 241/7872 81/2623 W/G Tgg/Ggg 1 1 MAST4 HGNC HGNC:19037 protein_coding YES CCDS54861.1 ENSP00000385727 O15021 UPI000173A2B0 NM_001164664.1 deleterious_low_confidence(0.01) probably_damaging(0.956) 1/29 Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 66596896 MAST4 . GRCh38 chr5 66596933 66596933 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.278T>G p.Leu93Arg p.L93R ENST00000403625 1/29 99 87 10 26 25 0 MAST4,missense_variant,p.Leu93Arg,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Leu93Arg,ENST00000406374,NM_198828.2;MAST4,missense_variant,p.Leu93Arg,ENST00000406039,NM_001290228.1;,regulatory_region_variant,,ENSR00000181667,; G ENSG00000069020 ENST00000403625 Transcript missense_variant 573/10711 278/7872 93/2623 L/R cTt/cGt 1 1 MAST4 HGNC HGNC:19037 protein_coding YES CCDS54861.1 ENSP00000385727 O15021 UPI000173A2B0 NM_001164664.1 deleterious_low_confidence(0) benign(0) 1/29 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS CTT . . 66596933 MAST4 . GRCh38 chr5 66596951 66596951 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.296T>G p.Leu99Arg p.L99R ENST00000403625 1/29 99 82 15 24 23 0 MAST4,missense_variant,p.Leu99Arg,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Leu99Arg,ENST00000406374,NM_198828.2;MAST4,missense_variant,p.Leu99Arg,ENST00000406039,NM_001290228.1;,regulatory_region_variant,,ENSR00000181667,; G ENSG00000069020 ENST00000403625 Transcript missense_variant 591/10711 296/7872 99/2623 L/R cTt/cGt 1 1 MAST4 HGNC HGNC:19037 protein_coding YES CCDS54861.1 ENSP00000385727 O15021 UPI000173A2B0 NM_001164664.1 tolerated_low_confidence(0.86) benign(0.061) 1/29 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS CTT . . 66596951 HRH2 . GRCh38 chr5 175658158 175658158 + Splice_Region SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.-526+3A>C ENST00000377291 67 55 9 29 28 0 HRH2,splice_region_variant,,ENST00000377291,NM_001131055.1;,regulatory_region_variant,,ENSR00000191156,; C ENSG00000113749 ENST00000377291 Transcript splice_region_variant,intron_variant 1 1 HRH2 HGNC HGNC:5183 protein_coding YES CCDS47344.1 ENSP00000366506 P25021 UPI00001B2326 NM_001131055.1 1/2 LOW 1 SNV 1 PASS TAA . . 175658158 FOXQ1 . GRCh38 chr6 1313626 1313626 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.922T>G p.Phe308Val p.F308V ENST00000296839 1/1 63 49 12 35 34 0 FOXQ1,missense_variant,p.Phe308Val,ENST00000296839,NM_033260.3;,regulatory_region_variant,,ENSR00000191918,; G ENSG00000164379 ENST00000296839 Transcript missense_variant 1187/2309 922/1212 308/403 F/V Ttc/Gtc 1 1 FOXQ1 HGNC HGNC:20951 protein_coding YES CCDS4471.1 ENSP00000296839 Q9C009 UPI000013E397 NM_033260.3 tolerated(0.22) benign(0.005) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF206 MODERATE 1 SNV PASS GTT . . 1313626 SOX4 . GRCh38 chr6 21595061 21595061 + Missense_Mutation SNP A A C 7316-400 BS_QYQNZDD8 A A c.527A>C p.Asn176Thr p.N176T ENST00000244745 1/1 74 62 10 31 30 0 SOX4,missense_variant,p.Asn176Thr,ENST00000244745,NM_003107.2;AL512380.2,intron_variant,,ENST00000637901,;,regulatory_region_variant,,ENSR00000194547,;,TF_binding_site_variant,,PB0010.1,; C ENSG00000124766 ENST00000244745 Transcript missense_variant 2294/5852 527/1425 176/474 N/T aAc/aCc COSM5560788 1 1 SOX4 HGNC HGNC:11200 protein_coding YES CCDS4547.1 ENSP00000244745 Q06945 UPI0000047FA0 NM_003107.2 tolerated(0.29) benign(0.001) 1/1 Gene3D:1.10.30.10,PIRSF_domain:PIRSF038098,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF27,mobidb-lite,Low_complexity_(Seg):seg 1 MODERATE SNV 1 PASS AAC . . 21595061 HLA-A . GRCh38 chr6 29942594 29942594 + Missense_Mutation SNP C C T rs2230954 7316-400 BS_QYQNZDD8 C C c.41C>T p.Ser14Leu p.S14L ENST00000396634 3/10 53 42 11 24 21 1 HLA-A,missense_variant,p.Ser14Leu,ENST00000396634,;HLA-A,missense_variant,p.Ser14Leu,ENST00000376806,;HLA-A,missense_variant,p.Ser14Leu,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.Ser14Leu,ENST00000376802,;HLA-A,missense_variant,p.Ser14Leu,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;,regulatory_region_variant,,ENSR00000195346,;AL671277.1,non_coding_transcript_exon_variant,,ENST00000429656,; T ENSG00000206503 ENST00000396634 Transcript missense_variant 382/1868 41/1098 14/365 S/L tCg/tTg rs2230954,COSM4407067,COSM4407066 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D tolerated_low_confidence(0.1) benign(0.003) 3/10 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.1662 0.1055 0,1,1 27766139,19774073 MODERATE 1 SNV 0,1,1 1 PASS TCG . . 0.1235 0.1776 0.1412 0.1314 0.1557 0.08303 0.1043 0.1231 0.1554 29942594 HLA-A . GRCh38 chr6 29942940 29942940 + Missense_Mutation SNP A A T rs1064588 7316-400 BS_QYQNZDD8 A A c.257A>T p.Gln86Leu p.Q86L ENST00000396634 4/10 61 48 11 16 15 0 HLA-A,missense_variant,p.Gln86Leu,ENST00000396634,;HLA-A,missense_variant,p.Gln86Leu,ENST00000376806,;HLA-A,missense_variant,p.Gln86Leu,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.Gln86Leu,ENST00000376802,;HLA-A,missense_variant,p.Gln86Leu,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;HLA-A,intron_variant,,ENST00000496081,;,regulatory_region_variant,,ENSR00000195346,;AL671277.1,non_coding_transcript_exon_variant,,ENST00000429656,; T ENSG00000206503 ENST00000396634 Transcript missense_variant 598/1868 257/1098 86/365 Q/L cAg/cTg rs1064588,COSM4593615,COSM4006261,COSM1724546 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D tolerated_low_confidence(0.21) benign(0) 4/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675,Prints_domain:PR01638 0.0234 0.0591 0.0159 0.0427 0.0092 0.04384 0.04811 0,1,1,1 MODERATE 1 SNV 0,1,1,1 1 PASS CAG . . 0.02771 0.03183 0.03786 0.04636 0.0065 0.0075 0.03408 0.03456 0.01064 29942940 HLA-A . GRCh38 chr6 29942942 29942942 + Missense_Mutation SNP G G C rs2230991 7316-400 BS_QYQNZDD8 G G c.259G>C p.Glu87Gln p.E87Q ENST00000396634 4/10 60 49 10 16 15 0 HLA-A,missense_variant,p.Glu87Gln,ENST00000396634,;HLA-A,missense_variant,p.Glu87Gln,ENST00000376806,;HLA-A,missense_variant,p.Glu87Gln,ENST00000376809,NM_002116.7;HLA-A,missense_variant,p.Glu87Gln,ENST00000376802,;HLA-A,missense_variant,p.Glu87Gln,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;HLA-A,intron_variant,,ENST00000496081,;,regulatory_region_variant,,ENSR00000195346,;AL671277.1,non_coding_transcript_exon_variant,,ENST00000429656,; C ENSG00000206503 ENST00000396634 Transcript missense_variant 600/1868 259/1098 87/365 E/Q Gag/Cag rs2230991,COSM4593854,COSM3761770 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D tolerated_low_confidence(0.46) benign(0.005) 4/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675,Prints_domain:PR01638 0.0424 0.0692 0.0278 0.0457 0.0164 0.03792 0.04099 0,1,1 MODERATE 1 SNV 0,1,1 1 PASS GGA . . 0.03135 0.03519 0.04793 0.05075 0.009433 0.008331 0.0371 0.03772 0.01407 29942942 MDC1 . GRCh38 chr6 30704548 30704548 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.4635A>C p.Gln1545His p.Q1545H ENST00000376406 10/15 88 63 12 24 22 1 MDC1,missense_variant,p.Gln1545His,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; G ENSG00000137337 ENST00000376406 Transcript missense_variant 5283/7576 4635/6270 1545/2089 Q/H caA/caC 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 deleterious(0.03) possibly_damaging(0.553) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 MODERATE SNV 5 PASS GTT . . 30704548 MDC1 . GRCh38 chr6 30704586 30704586 + Missense_Mutation SNP C C A 7316-400 BS_QYQNZDD8 C C c.4597G>T p.Ala1533Ser p.A1533S ENST00000376406 10/15 79 61 9 31 28 0 MDC1,missense_variant,p.Ala1533Ser,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,; A ENSG00000137337 ENST00000376406 Transcript missense_variant 5245/7576 4597/6270 1533/2089 A/S Gca/Tca COSM5950854,COSM5950853 1 -1 MDC1 HGNC HGNC:21163 protein_coding YES CCDS34384.1 ENSP00000365588 Q14676 A0A1U9XBC1 UPI00001AF453 NM_014641.2 deleterious(0) benign(0.035) 10/15 mobidb-lite,hmmpanther:PTHR23196,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF16,hmmpanther:PTHR23196:SF16 1,1 MODERATE SNV 5 1,1 PASS GCG . . 30704586 DAAM2 . GRCh38 chr6 39901830 39901830 + Missense_Mutation SNP A A C rs570662014 7316-400 BS_QYQNZDD8 A A c.3000A>C p.Glu1000Asp p.E1000D ENST00000398904 25/25 100 90 10 23 23 0 DAAM2,missense_variant,p.Glu999Asp,ENST00000538976,NM_015345.3;DAAM2,missense_variant,p.Glu1000Asp,ENST00000398904,;DAAM2,missense_variant,p.Glu1000Asp,ENST00000274867,NM_001201427.1;DAAM2,missense_variant,p.Glu1009Asp,ENST00000633794,;MOCS1,downstream_gene_variant,,ENST00000340692,;MOCS1,downstream_gene_variant,,ENST00000373186,NM_005943.5,NM_001358534.1,NM_001358533.1,NM_001358530.1,NM_001358531.1;MOCS1,downstream_gene_variant,,ENST00000373188,NM_001075098.3;MOCS1,downstream_gene_variant,,ENST00000373195,;AL590999.1,upstream_gene_variant,,ENST00000420293,;AL590999.1,upstream_gene_variant,,ENST00000430595,;AL590999.1,upstream_gene_variant,,ENST00000437947,;AL590999.1,upstream_gene_variant,,ENST00000606829,;DAAM2,non_coding_transcript_exon_variant,,ENST00000631498,;MOCS1,intron_variant,,ENST00000373181,;MOCS1,downstream_gene_variant,,ENST00000425303,;MOCS1,downstream_gene_variant,,ENST00000645522,; C ENSG00000146122 ENST00000398904 Transcript missense_variant 3182/6224 3000/3207 1000/1068 E/D gaA/gaC rs570662014 1 1 DAAM2 HGNC HGNC:18143 protein_coding YES CCDS56426.1 ENSP00000381876 Q86T65 UPI000020DC88 tolerated(0.09) benign(0.026) 25/25 Gene3D:1.10.238.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF171,SMART_domains:SM00498,Low_complexity_(Seg):seg 0.0002 0.001 MODERATE SNV 5 PASS AAC . . 39901830 CNPY3 . GRCh38 chr6 42929620 42929622 + In_Frame_Del DEL TGC TGC - rs780206711 7316-400 BS_QYQNZDD8 TGC TGC c.74_76del p.Leu25del p.L25del ENST00000372836 1/6 78 63 6 21 20 0 CNPY3,inframe_deletion,p.Leu25del,ENST00000372836,NM_006586.4,NM_001318842.1,NM_001318845.1;CNPY3,inframe_deletion,p.Leu25del,ENST00000394142,NM_001318848.1;PTCRA,downstream_gene_variant,,ENST00000304672,NM_138296.2;PTCRA,downstream_gene_variant,,ENST00000441198,NM_001243169.1;PTCRA,downstream_gene_variant,,ENST00000446507,NM_001243170.1;PTCRA,downstream_gene_variant,,ENST00000616441,NM_001243168.1;,regulatory_region_variant,,ENSR00000197066,; - ENSG00000137161 ENST00000372836 Transcript inframe_deletion 421-423/1704 50-52/837 17-18/278 LL/L tTGCtg/ttg rs780206711,COSM301961 1 1 CNPY3 HGNC HGNC:11968 protein_coding YES CCDS4875.1 ENSP00000361926 Q9BT09 UPI000004C625 NM_006586.4,NM_001318842.1,NM_001318845.1 1/6 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15382:SF2,hmmpanther:PTHR15382 0,1 MODERATE 1 deletion 1 24 0,1 1 PASS CTTGCT . . 0.006573 0.007997 0.0042 0.005101 0.006626 0.01023 0.007486 0.006124 0.004697 42929619 EPM2A . GRCh38 chr6 145735353 145735353 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.146A>C p.Asp49Ala p.D49A ENST00000367519 1/4 67 50 8 40 39 0 EPM2A,missense_variant,p.Asp49Ala,ENST00000367519,NM_005670.3;EPM2A,missense_variant,p.Asp49Ala,ENST00000638262,NM_001360057.1;EPM2A,missense_variant,p.Asp49Ala,ENST00000618445,;EPM2A,missense_variant,p.Asp49Ala,ENST00000435470,NM_001018041.1;EPM2A,intron_variant,,ENST00000611340,;EPM2A,intron_variant,,ENST00000639423,NM_001360064.1;EPM2A,intron_variant,,ENST00000640980,;EPM2A,upstream_gene_variant,,ENST00000638717,;AL023806.2,downstream_gene_variant,,ENST00000603042,;AL023806.1,upstream_gene_variant,,ENST00000603994,;EPM2A,non_coding_transcript_exon_variant,,ENST00000640297,;EPM2A,intron_variant,,ENST00000640898,;EPM2A,missense_variant,p.Asp40Ala,ENST00000639049,NM_001360071.1;EPM2A,non_coding_transcript_exon_variant,,ENST00000639649,;EPM2A,upstream_gene_variant,,ENST00000638554,;EPM2A,upstream_gene_variant,,ENST00000640351,;,regulatory_region_variant,,ENSR00000204584,; G ENSG00000112425 ENST00000367519 Transcript missense_variant 503/3465 146/996 49/331 D/A gAc/gCc 1 -1 EPM2A HGNC HGNC:3413 protein_coding YES CCDS5206.1 ENSP00000356489 O95278 UPI000006E60E NM_005670.3 tolerated_low_confidence(0.77) benign(0) 1/4 Gene3D:2.60.40.10,Pfam_domain:PF00686,PROSITE_profiles:PS51166,SMART_domains:SM01065,Superfamily_domains:SSF49452,cd05806,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS GTC . . 145735353 CDK13 . GRCh38 chr7 39951364 39951364 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.723A>C p.Glu241Asp p.E241D ENST00000181839 1/14 89 77 10 39 39 0 CDK13,missense_variant,p.Glu241Asp,ENST00000181839,NM_003718.4;CDK13,missense_variant,p.Glu241Asp,ENST00000340829,NM_031267.3;CDK13,missense_variant,p.Glu21Asp,ENST00000646039,;CDK13,missense_variant,p.Glu116Asp,ENST00000643868,;CDK13,5_prime_UTR_variant,,ENST00000613626,;CDK13,upstream_gene_variant,,ENST00000611390,;CDK13,upstream_gene_variant,,ENST00000643859,;AC072061.1,upstream_gene_variant,,ENST00000569710,;,regulatory_region_variant,,ENSR00000211251,; C ENSG00000065883 ENST00000181839 Transcript missense_variant 1719/10135 723/4539 241/1512 E/D gaA/gaC 1 1 CDK13 HGNC HGNC:1733 protein_coding YES CCDS5461.1 ENSP00000181839 Q14004 A0A024RA85 UPI000013C5E3 NM_003718.4 tolerated(0.46) benign(0) 1/14 hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 39951364 MUC17 . GRCh38 chr7 101038189 101038189 + Missense_Mutation SNP C C G rs1173158035 7316-400 BS_QYQNZDD8 C C c.6773C>G p.Thr2258Ser p.T2258S ENST00000306151 3/13 60 50 7 27 27 0 MUC17,missense_variant,p.Thr2258Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr2258Ser,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 6837/14247 6773/13482 2258/4493 T/S aCt/aGt rs1173158035,COSM6236465 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS ACT . . 101038189 ZYX . GRCh38 chr7 143382379 143382379 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.340T>G p.Phe114Val p.F114V ENST00000322764 3/10 85 65 13 31 31 0 ZYX,missense_variant,p.Phe114Val,ENST00000322764,NM_003461.4,NM_001010972.1;ZYX,missense_variant,p.Phe113Val,ENST00000354434,;ZYX,missense_variant,p.Phe114Val,ENST00000457235,;ZYX,missense_variant,p.Phe83Val,ENST00000449630,;ZYX,5_prime_UTR_variant,,ENST00000392910,;ZYX,upstream_gene_variant,,ENST00000446634,;MIR6892,upstream_gene_variant,,ENST00000612346,;AC093673.1,upstream_gene_variant,,ENST00000429630,;ZYX,intron_variant,,ENST00000477373,;ZYX,non_coding_transcript_exon_variant,,ENST00000468083,;ZYX,upstream_gene_variant,,ENST00000436448,;,regulatory_region_variant,,ENSR00000219365,; G ENSG00000159840 ENST00000322764 Transcript missense_variant 685/2493 340/1719 114/572 F/V Ttc/Gtc 1 1 ZYX HGNC HGNC:13200 protein_coding YES CCDS5883.1 ENSP00000324422 Q15942 UPI00000424F2 NM_003461.4,NM_001010972.1 deleterious(0.01) benign(0.431) 3/10 hmmpanther:PTHR24212,hmmpanther:PTHR24212:SF1,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTT . . 143382379 TP53INP1 . GRCh38 chr8 94949152 94949152 + Splice_Site SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.-151+2T>G ENST00000342697 89 68 9 32 30 0 TP53INP1,splice_donor_variant,,ENST00000342697,NM_033285.3;TP53INP1,splice_donor_variant,,ENST00000448464,NM_001135733.1;NDUFAF6,intron_variant,,ENST00000396113,;NDUFAF6,intron_variant,,ENST00000519136,;NDUFAF6,intron_variant,,ENST00000523378,;AC087752.3,upstream_gene_variant,,ENST00000519034,;AC087752.3,upstream_gene_variant,,ENST00000523905,;,regulatory_region_variant,,ENSR00000227234,; C ENSG00000164938 ENST00000342697 Transcript splice_donor_variant 1 -1 TP53INP1 HGNC HGNC:18022 protein_coding YES CCDS6265.1 ENSP00000344215 Q96A56 A0A024R9C8 UPI00000725F8 NM_033285.3 1/3 HIGH 1 SNV 1 PASS TAC . . 94949152 NRBP2 . GRCh38 chr8 143840796 143840796 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.39A>C p.Glu13Asp p.E13D ENST00000442628 1/18 101 85 10 27 26 0 NRBP2,missense_variant,p.Glu13Asp,ENST00000442628,NM_178564.3;NRBP2,upstream_gene_variant,,ENST00000530123,;NRBP2,upstream_gene_variant,,ENST00000530347,;MIR6845,upstream_gene_variant,,ENST00000613182,;NRBP2,non_coding_transcript_exon_variant,,ENST00000533093,;NRBP2,upstream_gene_variant,,ENST00000423469,;NRBP2,upstream_gene_variant,,ENST00000527545,;NRBP2,upstream_gene_variant,,ENST00000529747,;NRBP2,upstream_gene_variant,,ENST00000531729,;NRBP2,upstream_gene_variant,,ENST00000532940,;NRBP2,upstream_gene_variant,,ENST00000533846,;,regulatory_region_variant,,ENSR00000232154,; G ENSG00000185189 ENST00000442628 Transcript missense_variant 179/3587 39/1506 13/501 E/D gaA/gaC 1 -1 NRBP2 HGNC HGNC:19339 protein_coding YES CCDS34959.2 ENSP00000414055 Q9NSY0 UPI00017A7042 NM_178564.3 tolerated(0.73) benign(0.217) 1/18 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF53 MODERATE 1 SNV 2 PASS GTT . . 143840796 IGFBPL1 . GRCh38 chr9 38423991 38423991 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.434A>C p.Lys145Thr p.K145T ENST00000377694 1/5 82 67 12 32 31 1 IGFBPL1,missense_variant,p.Lys145Thr,ENST00000377694,NM_001007563.2; G ENSG00000137142 ENST00000377694 Transcript missense_variant 457/1093 434/837 145/278 K/T aAg/aCg 1 -1 IGFBPL1 HGNC HGNC:20081 protein_coding YES CCDS35017.1 ENSP00000366923 Q8WX77 UPI000006F856 NM_001007563.2 tolerated(0.05) probably_damaging(0.986) 1/5 PROSITE_profiles:PS51465,cd00104,hmmpanther:PTHR14186,hmmpanther:PTHR14186:SF16,Gene3D:3.30.60.30,Pfam_domain:PF07648,PIRSF_domain:PIRSF018239,SMART_domains:SM00280,Superfamily_domains:SSF100895 MODERATE 1 SNV 2 PASS CTT . . 38423991 FOXB2 . GRCh38 chr9 77020322 77020322 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.668T>G p.Val223Gly p.V223G ENST00000376708 1/1 57 43 11 31 31 0 FOXB2,missense_variant,p.Val223Gly,ENST00000376708,NM_001013735.1; G ENSG00000204612 ENST00000376708 Transcript missense_variant 668/1299 668/1299 223/432 V/G gTg/gGg 1 1 FOXB2 HGNC HGNC:23315 protein_coding YES CCDS35045.1 ENSP00000365898 Q5VYV0 UPI00004588EE NM_001013735.1 tolerated_low_confidence(0.32) benign(0.001) 1/1 Low_complexity_(Seg):seg,Gene3D:3.40.50.1980,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF215 MODERATE 1 SNV PASS GTG . . 77020322 FOXB2 . GRCh38 chr9 77020358 77020358 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.704T>G p.Val235Gly p.V235G ENST00000376708 1/1 58 43 8 28 27 0 FOXB2,missense_variant,p.Val235Gly,ENST00000376708,NM_001013735.1; G ENSG00000204612 ENST00000376708 Transcript missense_variant 704/1299 704/1299 235/432 V/G gTg/gGg 1 1 FOXB2 HGNC HGNC:23315 protein_coding YES CCDS35045.1 ENSP00000365898 Q5VYV0 UPI00004588EE NM_001013735.1 deleterious_low_confidence(0.01) benign(0.011) 1/1 Low_complexity_(Seg):seg,Gene3D:3.40.50.1980,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF215 MODERATE 1 SNV PASS GTG . . 77020358 PRRT1B . GRCh38 chr9 131545616 131545616 + Translation_Start_Site SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.1A>C p.Met1? p.M1? ENST00000636672 1/4 73 58 9 29 27 0 PRRT1B,start_lost,p.Met1?,ENST00000636672,;,regulatory_region_variant,,ENSR00000337990,; C ENSG00000283526 ENST00000636672 Transcript start_lost 103/1312 1/792 1/263 M/L Atg/Ctg 1 1 PRRT1B HGNC HGNC:53642 protein_coding YES ENSP00000490857 A0A1B0GWB2 UPI0007E52AFB deleterious_low_confidence(0) unknown(0) 1/4 mobidb-lite HIGH 1 SNV 5 PASS CAT . . 131545616 RXRA . GRCh38 chr9 134401881 134401881 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.278A>C p.Gln93Pro p.Q93P ENST00000481739 2/10 96 60 14 30 29 0 RXRA,missense_variant,p.Gln93Pro,ENST00000481739,NM_001291921.1,NM_001291920.1,NM_002957.5;RXRA,splice_region_variant,,ENST00000356384,;RXRA,non_coding_transcript_exon_variant,,ENST00000484822,; C ENSG00000186350 ENST00000481739 Transcript missense_variant,splice_region_variant 330/1846 278/1389 93/462 Q/P cAg/cCg 1 1 RXRA HGNC HGNC:10477 protein_coding YES CCDS35172.1 ENSP00000419692 P19793 F1D8Q5 UPI0000042A9A NM_001291921.1,NM_001291920.1,NM_002957.5 tolerated(0.11) benign(0.033) 2/10 mobidb-lite,Pfam_domain:PF11825,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39 MODERATE 1 SNV 1 PASS CAG . . 134401881 NPFFR1 . GRCh38 chr10 70255042 70255042 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.1208A>C p.Asn403Thr p.N403T ENST00000277942 4/4 84 64 10 23 23 0 NPFFR1,missense_variant,p.Asn403Thr,ENST00000277942,NM_022146.4; G ENSG00000148734 ENST00000277942 Transcript missense_variant 1208/8921 1208/1293 403/430 N/T aAt/aCt 1 -1 NPFFR1 HGNC HGNC:17425 protein_coding YES CCDS53539.1 ENSP00000277942 Q9GZQ6 UPI000005048B NM_022146.4 tolerated_low_confidence(0.08) benign(0.025) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24241:SF4,hmmpanther:PTHR24241,Prints_domain:PR01571 MODERATE 1 SNV 5 PASS ATT . . 70255042 MKI67 . GRCh38 chr10 128107430 128107430 + Missense_Mutation SNP C C A rs1439060541 7316-400 BS_QYQNZDD8 C C c.4410G>T p.Leu1470Phe p.L1470F ENST00000368654 13/15 72 65 6 33 33 0 MKI67,missense_variant,p.Leu1470Phe,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Leu1110Phe,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;MKI67,downstream_gene_variant,,ENST00000484853,; A ENSG00000148773 ENST00000368654 Transcript missense_variant 4786/12678 4410/9771 1470/3256 L/F ttG/ttT rs1439060541 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 tolerated(1) benign(0) 13/15 Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295,mobidb-lite MODERATE 1 SNV 2 PASS TCA . . 8.124e-06 5.956e-05 128107430 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 61 43 12 22 22 0 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 MUC6 . GRCh38 chr11 1024084 1024084 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.3245A>C p.Tyr1082Ser p.Y1082S ENST00000421673 25/33 131 119 10 41 41 0 MUC6,missense_variant,p.Tyr1082Ser,ENST00000421673,NM_005961.2;MUC6,upstream_gene_variant,,ENST00000527242,; G ENSG00000184956 ENST00000421673 Transcript missense_variant 3296/8006 3245/7320 1082/2439 Y/S tAc/tCc 1 -1 MUC6 HGNC HGNC:7517 protein_coding YES CCDS44513.1 ENSP00000406861 Q6W4X9 UPI0000251DBE NM_005961.2 deleterious(0) probably_damaging(0.99) 25/33 Pfam_domain:PF08742,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,SMART_domains:SM00832 MODERATE 1 SNV 5 PASS GTA . . 1024084 LGR4 . GRCh38 chr11 27472178 27472178 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.125A>C p.Asp42Ala p.D42A ENST00000379214 1/18 63 42 5 27 26 0 LGR4,missense_variant,p.Asp42Ala,ENST00000379214,NM_018490.2;LGR4,missense_variant,p.Asp42Ala,ENST00000389858,NM_001346432.1;LGR4,missense_variant,p.Asp42Ala,ENST00000480977,;AC100771.2,intron_variant,,ENST00000525833,;AC100771.2,intron_variant,,ENST00000529258,;,regulatory_region_variant,,ENSR00000038161,; G ENSG00000205213 ENST00000379214 Transcript missense_variant 569/5206 125/2856 42/951 D/A gAc/gCc 1 -1 LGR4 HGNC HGNC:13299 protein_coding YES CCDS31449.1 ENSP00000368516 Q9BXB1 UPI00000373E7 NM_018490.2 deleterious(0.01) possibly_damaging(0.473) 1/18 hmmpanther:PTHR44052:SF1,hmmpanther:PTHR44052,Gene3D:3.80.10.10,Pfam_domain:PF01462,SMART_domains:SM00013,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 1 PASS GTC . . 27472178 LARGE2 . GRCh38 chr11 45922911 45922911 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.29T>G p.Leu10Arg p.L10R ENST00000531526 2/14 62 47 13 34 34 0 LARGE2,missense_variant,p.Leu10Arg,ENST00000531526,NM_152312.4;LARGE2,missense_variant,p.Leu10Arg,ENST00000325468,;LARGE2,missense_variant,p.Leu10Arg,ENST00000401752,NM_001300721.1;LARGE2,missense_variant,p.Leu10Arg,ENST00000529052,NM_001300722.1;PEX16,upstream_gene_variant,,ENST00000378750,NM_004813.2;PEX16,upstream_gene_variant,,ENST00000525192,;PEX16,upstream_gene_variant,,ENST00000532681,;LARGE2,upstream_gene_variant,,ENST00000534410,;LARGE2,upstream_gene_variant,,ENST00000414027,;LARGE2,upstream_gene_variant,,ENST00000525609,;LARGE2,upstream_gene_variant,,ENST00000528236,;PEX16,upstream_gene_variant,,ENST00000528674,;PEX16,upstream_gene_variant,,ENST00000529030,;LARGE2,upstream_gene_variant,,ENST00000530437,;,regulatory_region_variant,,ENSR00000039462,; G ENSG00000165905 ENST00000531526 Transcript missense_variant 140/2528 29/2166 10/721 L/R cTg/cGg 1 1 LARGE2 HGNC HGNC:16522 protein_coding YES CCDS31473.1 ENSP00000432869 Q8N3Y3 UPI000004B639 NM_152312.4 deleterious_low_confidence(0) benign(0.145) 2/14 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12270:SF23,hmmpanther:PTHR12270 MODERATE 1 SNV 2 PASS CTG . . 45922911 OR8U1 . GRCh38 chr11 56376116 56376116 + Missense_Mutation SNP C C T rs17150411 7316-400 BS_QYQNZDD8 C C c.493C>T p.Arg165Cys p.R165C ENST00000302270 1/1 132 99 28 53 50 3 OR8U1,missense_variant,p.Arg165Cys,ENST00000302270,NM_001005204.1; T ENSG00000172199 ENST00000302270 Transcript missense_variant 493/930 493/930 165/309 R/C Cgc/Tgc rs17150411,COSM1354638 1 1 OR8U1 HGNC HGNC:19611 protein_coding YES CCDS41647.1 ENSP00000304188 Q8NH10 UPI0000061EEF NM_001005204.1 tolerated(0.11) benign(0.022) 1/1 PROSITE_profiles:PS50262,cd15413,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF360,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE 1 SNV 0,1 PASS CCG . . 0.3344 0.1933 0.4296 0.3166 0.4369 0.3007 0.2996 0.3477 0.392 56376116 AHNAK . GRCh38 chr11 62522280 62522280 + Missense_Mutation SNP G G A rs1279170542 7316-400 BS_QYQNZDD8 G G c.12137C>T p.Ala4046Val p.A4046V ENST00000378024 5/5 55 45 6 35 35 0 AHNAK,missense_variant,p.Ala4046Val,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,; A ENSG00000124942 ENST00000378024 Transcript missense_variant 12412/18787 12137/17673 4046/5890 A/V gCc/gTc rs1279170542,COSM6035056,COSM6035055 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(0.63) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,hmmpanther:PTHR23348:SF41 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GGC . . 62522280 C2CD2L . GRCh38 chr11 119107906 119107906 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.165A>C p.Glu55Asp p.E55D ENST00000336702 1/14 76 59 13 32 32 0 C2CD2L,missense_variant,p.Glu55Asp,ENST00000336702,NM_001290474.1,NM_014807.4;DPAGT1,5_prime_UTR_variant,,ENST00000409993,;C2CD2L,upstream_gene_variant,,ENST00000528586,;C2CD2L,downstream_gene_variant,,ENST00000527854,;C2CD2L,downstream_gene_variant,,ENST00000528271,;C2CD2L,downstream_gene_variant,,ENST00000529600,;C2CD2L,downstream_gene_variant,,ENST00000529885,;C2CD2L,downstream_gene_variant,,ENST00000534024,;C2CD2L,upstream_gene_variant,,ENST00000525598,;C2CD2L,upstream_gene_variant,,ENST00000529874,;C2CD2L,upstream_gene_variant,,ENST00000533458,;,regulatory_region_variant,,ENSR00000045727,; C ENSG00000172375 ENST00000336702 Transcript missense_variant 524/4771 165/2124 55/707 E/D gaA/gaC 1 1 C2CD2L HGNC HGNC:29000 protein_coding YES CCDS8413.1 ENSP00000338885 O14523 UPI0000192105 NM_001290474.1,NM_014807.4 tolerated(0.33) benign(0.025) 1/14 hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF8,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 119107906 PRB4 . GRCh38 chr12 11308844 11308844 + Missense_Mutation SNP G G C rs79595466 7316-400 BS_QYQNZDD8 G G c.139C>G p.Pro47Ala p.P47A ENST00000279575 3/4 68 51 7 40 38 0 PRB4,missense_variant,p.Pro47Ala,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Pro47Ala,ENST00000535904,;PRB4,missense_variant,p.Pro47Ala,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Pro47Ala,ENST00000445719,; C ENSG00000230657 ENST00000279575 Transcript missense_variant 176/916 139/744 47/247 P/A Ccc/Gcc rs79595466 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.59) benign(0.007) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GGC . . 2.514e-05 0.0001385 0.0001344 11308844 APOLD1 . GRCh38 chr12 12786912 12786912 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.100A>C p.Met34Leu p.M34L ENST00000326765 2/2 74 61 12 30 30 0 APOLD1,missense_variant,p.Met34Leu,ENST00000326765,NM_001130415.1;APOLD1,missense_variant,p.Met3Leu,ENST00000356591,NM_030817.2;APOLD1,intron_variant,,ENST00000534843,;APOLD1,intron_variant,,ENST00000540583,;APOLD1,intron_variant,,ENST00000588943,;,regulatory_region_variant,,ENSR00000048986,; C ENSG00000178878 ENST00000326765 Transcript missense_variant 170/4724 100/840 34/279 M/L Atg/Ctg 1 1 APOLD1 HGNC HGNC:25268 protein_coding YES CCDS44833.1 ENSP00000324277 Q96LR9 UPI0000D4A841 NM_001130415.1 deleterious(0.03) benign(0.011) 2/2 hmmpanther:PTHR14096:SF1,hmmpanther:PTHR14096 MODERATE 1 SNV 1 PASS AAT . . 12786912 BHLHE41 . GRCh38 chr12 26122281 26122281 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.1234T>G p.Phe412Val p.F412V ENST00000242728 5/5 75 56 14 22 21 0 BHLHE41,missense_variant,p.Phe412Val,ENST00000242728,NM_030762.2;SSPN,intron_variant,,ENST00000538142,;AC022509.3,downstream_gene_variant,,ENST00000535914,;AC022509.3,downstream_gene_variant,,ENST00000545819,;SSPN,intron_variant,,ENST00000534829,;BHLHE41,downstream_gene_variant,,ENST00000394326,;BHLHE41,downstream_gene_variant,,ENST00000541271,;,regulatory_region_variant,,ENSR00000049963,; C ENSG00000123095 ENST00000242728 Transcript missense_variant 1582/3837 1234/1449 412/482 F/V Ttc/Gtc 1 -1 BHLHE41 HGNC HGNC:16617 protein_coding YES CCDS8706.1 ENSP00000242728 Q9C0J9 A0A024RAV8 UPI0000052B52 NM_030762.2 tolerated(0.11) probably_damaging(0.981) 5/5 hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF76 MODERATE 1 SNV 1 1 PASS AAC . . 26122281 PAN3 . GRCh38 chr13 28138737 28138737 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.80T>G p.Val27Gly p.V27G ENST00000380958 1/19 47 35 7 21 21 0 PAN3,missense_variant,p.Val27Gly,ENST00000380958,NM_175854.7;PAN3,upstream_gene_variant,,ENST00000399613,;PAN3-AS1,upstream_gene_variant,,ENST00000563843,;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;,regulatory_region_variant,,ENSR00000060397,; G ENSG00000152520 ENST00000380958 Transcript missense_variant 232/2833 80/2664 27/887 V/G gTg/gGg 1 1 PAN3 HGNC HGNC:29991 protein_coding YES CCDS9329.2 ENSP00000370345 Q58A45 UPI0001BE8112 NM_175854.7 tolerated_low_confidence(0.16) benign(0.005) 1/19 Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 28138737 LRCH1 . GRCh38 chr13 46553652 46553652 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.256T>G p.Phe86Val p.F86V ENST00000389797 1/20 76 61 11 20 19 0 LRCH1,missense_variant,p.Phe86Val,ENST00000311191,NM_001164213.1;LRCH1,missense_variant,p.Phe86Val,ENST00000389798,NM_015116.2;LRCH1,missense_variant,p.Phe86Val,ENST00000389797,NM_001164211.1;LRCH1,non_coding_transcript_exon_variant,,ENST00000443945,;,regulatory_region_variant,,ENSR00000062417,; G ENSG00000136141 ENST00000389797 Transcript missense_variant 393/3314 256/2292 86/763 F/V Ttt/Gtt 1 1 LRCH1 HGNC HGNC:20309 protein_coding YES CCDS53865.1 ENSP00000374447 Q9Y2L9 UPI00015DFE06 NM_001164211.1 deleterious(0) probably_damaging(0.986) 1/20 hmmpanther:PTHR44283,hmmpanther:PTHR44283:SF2,Gene3D:3.80.10.10,Superfamily_domains:SSF52058 MODERATE 1 SNV 1 PASS ATT . . 46553652 MLNR . GRCh38 chr13 49221137 49221137 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.800A>C p.Tyr267Ser p.Y267S ENST00000218721 1/2 72 62 9 23 22 0 MLNR,missense_variant,p.Tyr267Ser,ENST00000218721,NM_001507.1;,regulatory_region_variant,,ENSR00000062704,; C ENSG00000102539 ENST00000218721 Transcript missense_variant 800/1239 800/1239 267/412 Y/S tAc/tCc 1 1 MLNR HGNC HGNC:4495 protein_coding YES CCDS9414.1 ENSP00000218721 O43193 UPI000003C2FB NM_001507.1 deleterious(0) probably_damaging(0.986) 1/2 Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF3,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15132 MODERATE 1 SNV 1 PASS TAC . . 49221137 DACH1 . GRCh38 chr13 71866553 71866553 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.217A>C p.Thr73Pro p.T73P ENST00000613252 1/11 69 47 15 24 22 0 DACH1,missense_variant,p.Thr73Pro,ENST00000613252,NM_080759.5;DACH1,missense_variant,p.Thr73Pro,ENST00000611519,NM_080760.5;DACH1,missense_variant,p.Thr73Pro,ENST00000620444,NM_004392.6;DACH1,missense_variant,p.Thr73Pro,ENST00000619232,;,regulatory_region_variant,,ENSR00000063548,; G ENSG00000276644 ENST00000613252 Transcript missense_variant 640/5233 217/2121 73/706 T/P Acc/Ccc 1 -1 DACH1 HGNC HGNC:2663 protein_coding YES CCDS41899.1 ENSP00000482245 Q9UI36 UPI000007308B NM_080759.5 deleterious_low_confidence(0.02) benign(0) 1/11 mobidb-lite MODERATE 1 SNV 1 PASS GTA . . 71866553 VRTN . GRCh38 chr14 74358845 74358845 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.2062A>C p.Met688Leu p.M688L ENST00000256362 2/2 90 77 11 36 36 0 VRTN,missense_variant,p.Met688Leu,ENST00000256362,NM_018228.2;VRTN,downstream_gene_variant,,ENST00000557177,; C ENSG00000133980 ENST00000256362 Transcript missense_variant 2303/3466 2062/2109 688/702 M/L Atg/Ctg 1 1 VRTN HGNC HGNC:20223 protein_coding YES CCDS9830.1 ENSP00000256362 Q9H8Y1 UPI00000737D5 NM_018228.2 deleterious(0) probably_damaging(0.956) 2/2 hmmpanther:PTHR16081 MODERATE 1 SNV 1 PASS CAT . . 74358845 NIPA1 . GRCh38 chr15 22786657 22786657 + Translation_Start_Site SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.1A>C p.Met1? p.M1? ENST00000337435 1/5 71 49 16 20 20 0 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; C ENSG00000170113 ENST00000337435 Transcript start_lost 26/6567 1/990 1/329 M/L Atg/Ctg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS AAT . . 22786657 GOLGA6L7 . GRCh38 chr15 28842666 28842666 + Missense_Mutation SNP C C T rs28581415 7316-400 BS_QYQNZDD8 C C c.1438G>A p.Glu480Lys p.E480K ENST00000567390 9/9 92 75 6 27 25 0 GOLGA6L7,missense_variant,p.Glu480Lys,ENST00000567390,;PDCD6IPP2,intron_variant,,ENST00000564604,;PDCD6IPP2,intron_variant,,ENST00000566178,;PDCD6IPP2,downstream_gene_variant,,ENST00000563144,;GOLGA6L7,downstream_gene_variant,,ENST00000569815,;,TF_binding_site_variant,,MA0528.1,; T ENSG00000261649 ENST00000567390 Transcript missense_variant 1564/2397 1438/1869 480/622 E/K Gag/Aag rs28581415 1 -1 GOLGA6L7 HGNC HGNC:37442 protein_coding YES ENSP00000490318 A0A1B0GV03 UPI0007E52AB8 tolerated(0.13) unknown(0) 9/9 Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21,hmmpanther:PTHR23143:SF21,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TCC . . 28842666 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 68 41 14 26 26 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 RMDN3 . GRCh38 chr15 40737695 40737696 + Frame_Shift_Ins INS - - T rs771465329 7316-400 BS_QYQNZDD8 - - c.1156dup p.Thr386AsnfsTer7 p.T386Nfs*7 ENST00000260385 9/12 70 62 6 31 29 0 RMDN3,frameshift_variant,p.Thr386AsnfsTer7,ENST00000260385,NM_001323894.1,NM_001323896.1;RMDN3,frameshift_variant,p.Thr386AsnfsTer7,ENST00000338376,NM_001323897.1,NM_001304802.1,NM_018145.2;RMDN3,frameshift_variant,p.Thr222AsnfsTer7,ENST00000558232,NM_001323895.1;RMDN3,downstream_gene_variant,,ENST00000560460,;RMDN3,non_coding_transcript_exon_variant,,ENST00000558560,;RMDN3,downstream_gene_variant,,ENST00000558364,;RMDN3,3_prime_UTR_variant,,ENST00000558777,;RMDN3,non_coding_transcript_exon_variant,,ENST00000560588,;RMDN3,non_coding_transcript_exon_variant,,ENST00000557831,;RMDN3,non_coding_transcript_exon_variant,,ENST00000560779,; T ENSG00000137824 ENST00000260385 Transcript frameshift_variant 2224-2225/3138 1156-1157/1413 386/470 T/NX act/aAct rs771465329 1 -1 RMDN3 HGNC HGNC:25550 protein_coding YES CCDS10063.1 ENSP00000260385 Q96TC7 A0A024R9P6 UPI0000037778 NM_001323894.1,NM_001323896.1 9/12 Gene3D:1.25.40.10,hmmpanther:PTHR16056,hmmpanther:PTHR16056:SF18,Superfamily_domains:SSF48452 HIGH 1 insertion 1 PASS AGT . . 3.937e-05 3.169e-05 0.000107 5.216e-05 5.815e-05 40737695 SHISA9 . GRCh38 chr16 12902098 12902098 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.34T>G p.Phe12Val p.F12V ENST00000558583 1/5 63 49 10 32 32 0 SHISA9,missense_variant,p.Phe12Val,ENST00000558583,NM_001145204.2;SHISA9,missense_variant,p.Phe12Val,ENST00000423335,NM_001145205.1;SHISA9,missense_variant,p.Phe12Val,ENST00000639941,;SHISA9,upstream_gene_variant,,ENST00000482916,; G ENSG00000237515 ENST00000558583 Transcript missense_variant 479/6724 34/1275 12/424 F/V Ttc/Gtc 1 1 SHISA9 HGNC HGNC:37231 protein_coding YES CCDS45417.2 ENSP00000454014 B4DS77 UPI0001CE6F1C NM_001145204.2 deleterious(0.01) benign(0.011) 1/5 Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR31774:SF1,hmmpanther:PTHR31774 MODERATE 1 SNV 5 PASS CTT . . 12902098 PRSS53 . GRCh38 chr16 31085006 31085006 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.1053A>C p.Glu351Asp p.E351D ENST00000280606 8/11 103 81 20 41 40 1 PRSS53,missense_variant,p.Glu351Asp,ENST00000280606,NM_001039503.2;ZNF646,downstream_gene_variant,,ENST00000300850,NM_014699.3;ZNF646,downstream_gene_variant,,ENST00000394979,;AC135050.2,downstream_gene_variant,,ENST00000529564,;AC135050.2,downstream_gene_variant,,ENST00000532364,;AC135050.2,3_prime_UTR_variant,,ENST00000533518,;PRSS53,non_coding_transcript_exon_variant,,ENST00000486499,;PRSS53,downstream_gene_variant,,ENST00000492427,;,regulatory_region_variant,,ENSR00000085296,; G ENSG00000151006 ENST00000280606 Transcript missense_variant 1207/2181 1053/1662 351/553 E/D gaA/gaC 1 -1 PRSS53 HGNC HGNC:34407 protein_coding YES CCDS42153.1 ENSP00000280606 Q2L4Q9 UPI000059D375 NM_001039503.2 tolerated(0.3) benign(0.046) 8/11 cd00190,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24276,hmmpanther:PTHR24276:SF61 MODERATE 1 SNV 1 PASS ATT . . 31085006 HEATR3 . GRCh38 chr16 50083933 50083933 + Splice_Region SNP T T A rs756262483 7316-400 BS_QYQNZDD8 T T c.1042-4T>A ENST00000299192 63 54 6 25 23 0 HEATR3,splice_region_variant,,ENST00000299192,NM_182922.2;HEATR3,splice_region_variant,,ENST00000564942,;HEATR3,splice_region_variant,,ENST00000561525,; A ENSG00000155393 ENST00000299192 Transcript splice_region_variant,intron_variant rs756262483 1 1 HEATR3 HGNC HGNC:26087 protein_coding YES CCDS10739.1 ENSP00000299192 Q7Z4Q2 UPI0000071B6C NM_182922.2 7/14 LOW 1 SNV 1 PASS TTA . . 2.395e-05 0.0001639 1.002e-05 4.138e-05 50083933 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 85 71 13 19 19 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 FASN . GRCh38 chr17 82093016 82093016 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.659A>C p.Asn220Thr p.N220T ENST00000306749 6/43 84 71 12 34 34 0 FASN,missense_variant,p.Asn220Thr,ENST00000306749,NM_004104.4;FASN,missense_variant,p.Asn220Thr,ENST00000634990,;FASN,downstream_gene_variant,,ENST00000635197,;FASN,downstream_gene_variant,,ENST00000636968,;FASN,downstream_gene_variant,,ENST00000637026,;FASN,downstream_gene_variant,,ENST00000635733,;FASN,downstream_gene_variant,,ENST00000637525,;FASN,downstream_gene_variant,,ENST00000637693,; G ENSG00000169710 ENST00000306749 Transcript missense_variant 878/8565 659/7536 220/2511 N/T aAt/aCt 1 -1 FASN HGNC HGNC:3594 protein_coding YES CCDS11801.1 ENSP00000304592 P49327 UPI000013EB82 NM_004104.4 deleterious(0.02) benign(0.015) 6/43 Gene3D:3.40.47.10,PDB-ENSP_mappings:3hhd.A,PDB-ENSP_mappings:3hhd.B,PDB-ENSP_mappings:3hhd.C,PDB-ENSP_mappings:3hhd.D,Pfam_domain:PF00109,hmmpanther:PTHR43775,hmmpanther:PTHR43775:SF7,SMART_domains:SM00825,Superfamily_domains:SSF53901,cd00833 MODERATE 1 SNV 1 1 PASS ATT . . 82093016 TXNDC2 . GRCh38 chr18 9887215 9887215 + Missense_Mutation SNP A A C 7316-400 BS_QYQNZDD8 A A c.736A>C p.Thr246Pro p.T246P ENST00000306084 2/2 58 40 6 22 22 0 TXNDC2,missense_variant,p.Thr179Pro,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Thr246Pro,ENST00000611534,;TXNDC2,missense_variant,p.Thr246Pro,ENST00000306084,NM_001098529.1;TXNDC2,intron_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; C ENSG00000168454 ENST00000306084 Transcript missense_variant 935/1873 736/1662 246/553 T/P Acc/Ccc COSM6457334,COSM6457333 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(0.15) possibly_damaging(0.773) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 1,1 MODERATE 1 SNV 1 1,1 PASS AAC . . 9887215 PHLPP1 . GRCh38 chr18 62716600 62716600 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.917T>G p.Val306Gly p.V306G ENST00000262719 1/17 79 70 6 31 30 0 PHLPP1,missense_variant,p.Val306Gly,ENST00000262719,NM_194449.3;,regulatory_region_variant,,ENSR00000104398,; G ENSG00000081913 ENST00000262719 Transcript missense_variant 1151/6390 917/5154 306/1717 V/G gTc/gGc 1 1 PHLPP1 HGNC HGNC:20610 protein_coding YES CCDS45881.2 ENSP00000262719 O60346 UPI000051AE2E NM_194449.3 tolerated_low_confidence(0.51) benign(0) 1/17 mobidb-lite MODERATE 1 SNV 1 PASS GTC . . 62716600 PIK3R2 . GRCh38 chr19 18161429 18161429 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.749T>G p.Phe250Cys p.F250C ENST00000222254 6/16 73 58 11 35 35 0 PIK3R2,missense_variant,p.Phe250Cys,ENST00000222254,NM_005027.3;PIK3R2,missense_variant,p.Phe250Cys,ENST00000617130,;PIK3R2,missense_variant,p.Phe250Cys,ENST00000617642,;AC007192.1,missense_variant,p.Phe250Cys,ENST00000593731,;PIK3R2,missense_variant,p.Phe250Cys,ENST00000426902,;PIK3R2,non_coding_transcript_exon_variant,,ENST00000474310,;PIK3R2,upstream_gene_variant,,ENST00000464016,;PIK3R2,upstream_gene_variant,,ENST00000600533,;,regulatory_region_variant,,ENSR00000108023,;,TF_binding_site_variant,,MA0139.1,;,TF_binding_site_variant,,MA0531.1,; G ENSG00000105647 ENST00000222254 Transcript missense_variant 1349/4033 749/2187 250/728 F/C tTt/tGt 1 1 PIK3R2 HGNC HGNC:8980 protein_coding YES CCDS12371.1 ENSP00000222254 O00459 UPI000006EF95 NM_005027.3 deleterious(0) possibly_damaging(0.87) 6/16 PDB-ENSP_mappings:2xs6.A,PROSITE_profiles:PS50238,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF1,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350 MODERATE 1 SNV 1 1 PASS TTT . . 18161429 ZNF257 . GRCh38 chr19 22088783 22088783 + Missense_Mutation SNP C C A rs555293490 7316-400 BS_QYQNZDD8 C C c.1033C>A p.Gln345Lys p.Q345K ENST00000594947 4/4 67 57 9 32 31 0 ZNF257,missense_variant,p.Gln345Lys,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; A ENSG00000197134 ENST00000594947 Transcript missense_variant 1177/3874 1033/1692 345/563 Q/K Caa/Aaa rs555293490,COSM6291265,COSM6084828,COSM6084827 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1,1 MODERATE 1 SNV 4 0,1,1,1 PASS CCA . . 22088783 ZNF461 . GRCh38 chr19 36638846 36638846 + Missense_Mutation SNP T T A 7316-400 BS_QYQNZDD8 T T c.1499A>T p.Lys500Met p.K500M ENST00000588268 6/6 74 62 6 33 32 0 ZNF461,missense_variant,p.Lys500Met,ENST00000588268,NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1;ZNF461,missense_variant,p.Lys477Met,ENST00000360357,NM_001322827.1,NM_001322826.1,NM_001297623.2;ZNF461,missense_variant,p.Lys500Met,ENST00000614133,;ZNF461,missense_variant,p.Lys231Met,ENST00000618437,;ZNF382,downstream_gene_variant,,ENST00000292928,NM_032825.4;ZNF461,downstream_gene_variant,,ENST00000591370,NM_001322828.1;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000588844,;ZNF461,downstream_gene_variant,,ENST00000590361,; A ENSG00000197808 ENST00000588268 Transcript missense_variant 1727/2584 1499/1692 500/563 K/M aAg/aTg COSM5956611,COSM5956610 1 -1 ZNF461 HGNC HGNC:21629 protein_coding YES CCDS54257.1 ENSP00000467931 Q8TAF7 UPI00002021CA NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1 deleterious(0) probably_damaging(0.916) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF277,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS CTT . . 36638846 DYRK1B . GRCh38 chr19 39833265 39833265 + Splice_Site SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.-102+2T>G ENST00000593685 78 64 9 21 19 0 DYRK1B,splice_donor_variant,,ENST00000593685,;DYRK1B,intron_variant,,ENST00000323039,NM_004714.2;DYRK1B,intron_variant,,ENST00000348817,NM_006484.2;DYRK1B,intron_variant,,ENST00000430012,NM_006483.2;DYRK1B,intron_variant,,ENST00000600611,;DYRK1B,intron_variant,,ENST00000601972,;FBL,downstream_gene_variant,,ENST00000221801,NM_001436.3;FBL,downstream_gene_variant,,ENST00000595545,;FBL,downstream_gene_variant,,ENST00000597224,;FBL,downstream_gene_variant,,ENST00000597634,;DYRK1B,upstream_gene_variant,,ENST00000597639,;FBL,downstream_gene_variant,,ENST00000598417,;FBL,downstream_gene_variant,,ENST00000601274,;MIR6719,upstream_gene_variant,,ENST00000622428,;FBL,downstream_gene_variant,,ENST00000593503,;FBL,downstream_gene_variant,,ENST00000594443,;FBL,downstream_gene_variant,,ENST00000599159,;DYRK1B,upstream_gene_variant,,ENST00000601696,;,regulatory_region_variant,,ENSR00000109449,; C ENSG00000105204 ENST00000593685 Transcript splice_donor_variant 1 -1 DYRK1B HGNC HGNC:3092 protein_coding YES CCDS12543.1 ENSP00000469863 Q9Y463 A0A024R0I0 UPI0000001059 1/10 HIGH SNV 5 1 PASS TAC . . 39833265 PPP1R13L . GRCh38 chr19 45396816 45396816 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.441T>G p.Asp147Glu p.D147E ENST00000418234 4/13 97 84 9 29 28 0 PPP1R13L,missense_variant,p.Asp147Glu,ENST00000418234,NM_001142502.1;PPP1R13L,missense_variant,p.Asp147Glu,ENST00000360957,NM_006663.3;PPP1R13L,downstream_gene_variant,,ENST00000592134,;PPP1R13L,downstream_gene_variant,,ENST00000593226,;PPP1R13L,non_coding_transcript_exon_variant,,ENST00000585905,;PPP1R13L,upstream_gene_variant,,ENST00000587270,; C ENSG00000104881 ENST00000418234 Transcript missense_variant 520/3118 441/2487 147/828 D/E gaT/gaG 1 -1 PPP1R13L HGNC HGNC:18838 protein_coding YES CCDS33050.1 ENSP00000403902 Q8WUF5 A0A024R0Q5 UPI00001400F1 NM_001142502.1 tolerated_low_confidence(0.42) benign(0) 4/13 hmmpanther:PTHR24164,mobidb-lite MODERATE 1 SNV 1 PASS CAT . . 45396816 FIZ1 . GRCh38 chr19 55593474 55593474 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.467A>C p.Asn156Thr p.N156T ENST00000221665 3/3 81 69 9 33 33 0 FIZ1,missense_variant,p.Asn156Thr,ENST00000590714,;FIZ1,missense_variant,p.Asn156Thr,ENST00000221665,NM_032836.2;FIZ1,3_prime_UTR_variant,,ENST00000587678,;FIZ1,3_prime_UTR_variant,,ENST00000592585,;FIZ1,downstream_gene_variant,,ENST00000587414,;,regulatory_region_variant,,ENSR00000111682,; G ENSG00000179943 ENST00000221665 Transcript missense_variant 557/2660 467/1491 156/496 N/T aAt/aCt 1 -1 FIZ1 HGNC HGNC:25917 protein_coding YES CCDS12928.1 ENSP00000221665 Q96SL8 UPI000013C7D7 NM_032836.2 tolerated(0.34) benign(0.018) 3/3 hmmpanther:PTHR24383:SF13,hmmpanther:PTHR24383,Gene3D:2.20.28.10 MODERATE 1 SNV 1 PASS ATT . . 55593474 ZNF544 . GRCh38 chr19 58262038 58262038 + Missense_Mutation SNP G G C rs1201369364 7316-400 BS_QYQNZDD8 G G c.1432G>C p.Glu478Gln p.E478Q ENST00000269829 4/4 58 48 7 24 20 0 ZNF544,missense_variant,p.Glu478Gln,ENST00000269829,;ZNF544,missense_variant,p.Glu450Gln,ENST00000600220,NM_001320773.1,NM_001320771.1;ZNF544,missense_variant,p.Glu478Gln,ENST00000596652,NM_001320769.1,NM_001320787.1,NM_001320774.1,NM_014480.3,NM_001320767.1,NM_001320777.1,NM_001320786.1,NM_001320785.1;ZNF544,missense_variant,p.Glu450Gln,ENST00000600044,NM_001320770.1;ZNF544,missense_variant,p.Glu336Gln,ENST00000599953,;ZNF544,3_prime_UTR_variant,,ENST00000599227,NM_001320791.1,NM_001320792.1,NM_001320788.1;ZNF544,3_prime_UTR_variant,,ENST00000596825,NM_001320789.1,NM_001320781.1;ZNF544,intron_variant,,ENST00000595981,;ZNF544,intron_variant,,ENST00000596929,NM_001320782.1;ZNF544,downstream_gene_variant,,ENST00000594384,;AC020915.3,intron_variant,,ENST00000597230,;AC020915.2,upstream_gene_variant,,ENST00000595301,;ZNF544,downstream_gene_variant,,ENST00000598880,;ZNF544,3_prime_UTR_variant,,ENST00000596677,;AC020915.5,intron_variant,,ENST00000637233,;AC020915.5,intron_variant,,ENST00000637310,; C ENSG00000198131 ENST00000269829 Transcript missense_variant 1493/3547 1432/2148 478/715 E/Q Gag/Cag rs1201369364,COSM5956413 1 1 ZNF544 HGNC HGNC:16759 protein_coding YES CCDS12973.1 ENSP00000269829 Q6NX49 UPI000013D856 tolerated(0.32) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS TGA . . 58262038 RUNX1 . GRCh38 chr21 34792308 34792308 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.1270T>G p.Ser424Ala p.S424A ENST00000300305 8/8 70 37 13 21 21 0 RUNX1,missense_variant,p.Ser397Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Ser424Ala,ENST00000300305,;RUNX1,missense_variant,p.Ser424Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser333Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; C ENSG00000159216 ENST00000300305 Transcript missense_variant 1715/6222 1270/1443 424/480 S/A Tcg/Gcg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) possibly_damaging(0.453) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS GAG . . 34792308 RUNX1 . GRCh38 chr21 34792313 34792313 + Missense_Mutation SNP T T G novel 7316-400 BS_QYQNZDD8 T T c.1265A>C p.Glu422Ala p.E422A ENST00000300305 8/8 70 41 8 20 20 0 RUNX1,missense_variant,p.Glu395Ala,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Glu422Ala,ENST00000300305,;RUNX1,missense_variant,p.Glu422Ala,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Glu331Ala,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;,regulatory_region_variant,,ENSR00000141746,; G ENSG00000159216 ENST00000300305 Transcript missense_variant 1710/6222 1265/1443 422/480 E/A gAg/gCg 1 -1 RUNX1 HGNC HGNC:10471 protein_coding YES CCDS13639.1 ENSP00000300305 Q01196 UPI000015FE6A deleterious(0) benign(0.079) 8/8 Pfam_domain:PF08504,PIRSF_domain:PIRSF009374,Prints_domain:PR00967,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7 MODERATE 1 SNV 1 1 PASS CTC . . 34792313 FAM207A . GRCh38 chr21 44940185 44940185 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.128A>C p.Lys43Thr p.K43T ENST00000291634 1/6 85 62 20 30 30 0 FAM207A,missense_variant,p.Lys43Thr,ENST00000291634,NM_001316983.1,NM_058190.3,NM_001316986.1;FAM207A,missense_variant,p.Lys43Thr,ENST00000397826,NM_001316984.1,NM_001316987.1,NM_001316985.1,NM_001316988.1;FAM207A,missense_variant,p.Lys43Thr,ENST00000458015,;LINC01547,upstream_gene_variant,,ENST00000330551,;LINC01547,upstream_gene_variant,,ENST00000397841,;AL844908.1,downstream_gene_variant,,ENST00000609953,;,regulatory_region_variant,,ENSR00000143123,; C ENSG00000160256 ENST00000291634 Transcript missense_variant,splice_region_variant 176/927 128/693 43/230 K/T aAg/aCg 1 1 FAM207A HGNC HGNC:15811 protein_coding YES CCDS13718.1 ENSP00000291634 Q9NSI2 UPI00001286B9 NM_001316983.1,NM_058190.3,NM_001316986.1 deleterious(0.03) benign(0.372) 1/6 hmmpanther:PTHR31109 MODERATE 1 SNV 1 PASS AAG . . 44940185 SCARF2 . GRCh38 chr22 20437753 20437753 + Translation_Start_Site SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.2T>G p.Met1? p.M1? ENST00000623402 1/11 78 56 14 29 29 0 SCARF2,start_lost,p.Met1?,ENST00000623402,NM_153334.6;SCARF2,start_lost,p.Met1?,ENST00000622235,NM_182895.4;KLHL22,downstream_gene_variant,,ENST00000328879,NM_032775.3;AC007731.5,intron_variant,,ENST00000429594,;,regulatory_region_variant,,ENSR00000143897,; C ENSG00000244486 ENST00000623402 Transcript start_lost 74/3248 2/2616 1/871 M/R aTg/aGg 1 -1 SCARF2 HGNC HGNC:19869 protein_coding YES CCDS13779.2 ENSP00000485276 A0A096LNX8 UPI0000EE7ADB NM_153334.6 deleterious_low_confidence(0) benign(0.007) 1/11 Cleavage_site_(Signalp):SignalP-noTM,mobidb-lite HIGH 1 SNV 1 1 PASS CAT . . 20437753 CERK . GRCh38 chr22 46738005 46738005 + Splice_Site SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.142+2T>G p.X48_splice ENST00000216264 86 72 9 25 24 1 CERK,splice_donor_variant,,ENST00000216264,NM_022766.5;CERK,splice_donor_variant,,ENST00000460254,;CERK,splice_donor_variant,,ENST00000443629,;,regulatory_region_variant,,ENSR00000147452,; C ENSG00000100422 ENST00000216264 Transcript splice_donor_variant 1 -1 CERK HGNC HGNC:19256 protein_coding YES CCDS14077.1 ENSP00000216264 Q8TCT0 A0A024R4U8 UPI000004BBBD NM_022766.5 1/12 HIGH 1 SNV 1 PASS CAC . . 46738005 TUBGCP6 . GRCh38 chr22 50220963 50220963 + Missense_Mutation SNP A A T 7316-400 BS_QYQNZDD8 A A c.3396T>A p.Asn1132Lys p.N1132K ENST00000248846 16/25 98 70 7 34 32 0 TUBGCP6,missense_variant,p.Asn1132Lys,ENST00000439308,;TUBGCP6,missense_variant,p.Asn1132Lys,ENST00000248846,NM_020461.3;SELENOO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;SELENOO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;SELENOO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,intron_variant,,ENST00000498611,; T ENSG00000128159 ENST00000248846 Transcript missense_variant 3501/5612 3396/5460 1132/1819 N/K aaT/aaA COSM6243213 1 -1 TUBGCP6 HGNC HGNC:18127 protein_coding YES CCDS14087.1 ENSP00000248846 Q96RT7 UPI000013CC55 NM_020461.3 deleterious(0.05) possibly_damaging(0.666) 16/25 Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF37 1 MODERATE 1 SNV 1 1 1 PASS TAT . . 50220963 ADM2 . GRCh38 chr22 50482812 50482812 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.356A>C p.Asn119Thr p.N119T ENST00000395738 2/2 100 85 14 29 27 0 ADM2,missense_variant,p.Asn119Thr,ENST00000395738,NM_001253845.1;ADM2,missense_variant,p.Asn119Thr,ENST00000395737,;MIOX,upstream_gene_variant,,ENST00000216075,NM_017584.5;MIOX,upstream_gene_variant,,ENST00000395732,;MIOX,upstream_gene_variant,,ENST00000395733,;MIOX,upstream_gene_variant,,ENST00000451761,; C ENSG00000128165 ENST00000395738 Transcript missense_variant 648/4276 356/447 119/148 N/T aAt/aCt 1 1 ADM2 HGNC HGNC:28898 protein_coding YES CCDS33682.1 ENSP00000379087 Q7Z4H4 UPI00001B5BFA NM_001253845.1 deleterious(0) possibly_damaging(0.796) 2/2 hmmpanther:PTHR23414,hmmpanther:PTHR23414:SF2,Pfam_domain:PF00214 MODERATE 1 SNV 1 PASS AAT . . 50482812 DUSP9 . GRCh38 chrX 153648201 153648201 + Missense_Mutation SNP A A C novel 7316-400 BS_QYQNZDD8 A A c.248A>C p.Gln83Pro p.Q83P ENST00000342782 2/4 82 51 20 36 34 1 DUSP9,missense_variant,p.Gln83Pro,ENST00000342782,NM_001318503.1;DUSP9,missense_variant,p.Gln83Pro,ENST00000370167,NM_001395.3;DUSP9,downstream_gene_variant,,ENST00000477033,;,regulatory_region_variant,,ENSR00000249577,; C ENSG00000130829 ENST00000342782 Transcript missense_variant 513/2433 248/1155 83/384 Q/P cAg/cCg 1 1 DUSP9 HGNC HGNC:3076 protein_coding YES CCDS14724.1 ENSP00000345853 Q99956 UPI0000049C1B NM_001318503.1 tolerated(0.06) benign(0.302) 2/4 Gene3D:3.40.250.10,Pfam_domain:PF00581,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50206,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF388,SMART_domains:SM00450,Superfamily_domains:SSF52821,cd01446 MODERATE 1 SNV 1 PASS CAG . . 153648201 NUF2 . GRCh38 chr1 163339481 163339481 + Splice_Region SNP T T G novel 7316-3068 BS_Y6ZSGEPG T T c.606+4T>G ENST00000271452 59 52 7 49 49 0 NUF2,splice_region_variant,,ENST00000271452,NM_145697.2;NUF2,splice_region_variant,,ENST00000367900,NM_031423.3;NUF2,splice_region_variant,,ENST00000524800,;NUF2,downstream_gene_variant,,ENST00000442820,;NUF2,downstream_gene_variant,,ENST00000450453,;NUF2,downstream_gene_variant,,ENST00000534289,;NUF2,downstream_gene_variant,,ENST00000490881,;NUF2,splice_region_variant,,ENST00000497990,;NUF2,splice_region_variant,,ENST00000527120,;NUF2,splice_region_variant,,ENST00000527439,;NUF2,upstream_gene_variant,,ENST00000531529,; G ENSG00000143228 ENST00000271452 Transcript splice_region_variant,intron_variant 1 1 NUF2 HGNC HGNC:14621 protein_coding YES CCDS1245.1 ENSP00000271452 Q9BZD4 UPI000006D211 NM_145697.2 8/13 LOW 1 SNV 1 PASS ATC . . 163339481 CROCC2 . GRCh38 chr2 240922636 240922636 + Missense_Mutation SNP C C T rs140408103 7316-3068 BS_Y6ZSGEPG C C c.479C>T p.Ala160Val p.A160V ENST00000443866 4/32 67 57 10 34 33 0 CROCC2,missense_variant,p.Ala160Val,ENST00000443866,NM_001351305.1;,regulatory_region_variant,,ENSR00000133203,; T ENSG00000226321 ENST00000443866 Transcript missense_variant 663/5382 479/4968 160/1655 A/V gCc/gTc rs140408103 1 1 CROCC2 HGNC HGNC:51677 protein_coding YES ENSP00000397968 H7BZ55 UPI0004F2364A NM_001351305.1 tolerated(0.13) possibly_damaging(0.546) 4/32 Low_complexity_(Seg):seg,hmmpanther:PTHR23159:SF16,hmmpanther:PTHR23159,Gene3D:1.20.5.340,Pfam_domain:PF15035 0.0002 0.001 MODERATE 1 SNV 5 PASS GCC . . 240922636 FGFRL1 . GRCh38 chr4 1025267 1025268 + Frame_Shift_Del DEL CA CA - rs145808953 7316-3068 BS_Y6ZSGEPG CA CA c.1454_1455del p.His485LeufsTer66 p.H485Lfs*66 ENST00000398484 8/8 50 38 5 27 24 0 FGFRL1,frameshift_variant,p.His485LeufsTer66,ENST00000398484,;FGFRL1,frameshift_variant,p.His485LeufsTer66,ENST00000264748,NM_021923.3,NM_001004358.1;FGFRL1,frameshift_variant,p.His485LeufsTer66,ENST00000510644,NM_001004356.2;FGFRL1,frameshift_variant,p.His485LeufsTer?,ENST00000504138,;FGFRL1,downstream_gene_variant,,ENST00000507339,;FGFRL1,downstream_gene_variant,,ENST00000512174,;AC019103.1,upstream_gene_variant,,ENST00000503095,; - ENSG00000127418 ENST00000398484 Transcript frameshift_variant 2015-2016/3639 1435-1436/1515 479/504 H/X CAc/c rs145808953,TMP_ESP_4_1019055_1019058,COSM4765008,COSM1173009 1 1 FGFRL1 HGNC HGNC:3693 protein_coding YES CCDS3344.1 ENSP00000381498 Q8N441 UPI000003ED0B 8/8 hmmpanther:PTHR19890,hmmpanther:PTHR19890:SF10,Low_complexity_(Seg):seg 0.239 0.2557 0,0,1,1 HIGH deletion 5 19 0,0,1,1 1 PASS TCCAC . . 0.1023 0.09077 0.07453 0.1133 0.0901 0.08662 0.1174 0.09337 0.1023 1025266 STAU2 . GRCh38 chr8 73673248 73673249 + Splice_Region INS - - A rs753103941 7316-3068 BS_Y6ZSGEPG - - c.275-7dup ENST00000524300 36 25 9 33 25 0 STAU2,splice_region_variant,,ENST00000355780,NM_014393.2;STAU2,splice_region_variant,,ENST00000517542,NM_001164385.1;STAU2,splice_region_variant,,ENST00000519961,;STAU2,splice_region_variant,,ENST00000521210,NM_001164382.1;STAU2,splice_region_variant,,ENST00000521419,;STAU2,splice_region_variant,,ENST00000521447,;STAU2,splice_region_variant,,ENST00000521727,;STAU2,splice_region_variant,,ENST00000521736,;STAU2,splice_region_variant,,ENST00000522509,NM_001164384.1;STAU2,splice_region_variant,,ENST00000522695,NM_001164381.1;STAU2,splice_region_variant,,ENST00000524104,;STAU2,splice_region_variant,,ENST00000524300,NM_001164380.1;STAU2,intron_variant,,ENST00000518502,;STAU2,intron_variant,,ENST00000518767,;STAU2,intron_variant,,ENST00000521451,;STAU2,intron_variant,,ENST00000523558,NM_001164383.1;AC027018.1,intron_variant,,ENST00000533978,;STAU2,splice_region_variant,,ENST00000520945,;STAU2,splice_region_variant,,ENST00000521845,;STAU2,splice_region_variant,,ENST00000522962,;STAU2,splice_region_variant,,ENST00000524191,;STAU2,intron_variant,,ENST00000521293,;STAU2,splice_region_variant,,ENST00000518981,;STAU2,splice_region_variant,,ENST00000524113,;,regulatory_region_variant,,ENSR00000225916,;,regulatory_region_variant,,ENSR00000331743,; A ENSG00000040341 ENST00000524300 Transcript splice_region_variant,intron_variant rs753103941,TMP_ESP_8_74585484_74585484 1 -1 STAU2 HGNC HGNC:11371 protein_coding YES CCDS55247.1 ENSP00000428756 Q9NUL3 UPI000013D271 NM_001164380.1 5/14 0.00258 0.002181 LOW 1 insertion 2 PASS TTA . . 0.009861 0.008911 0.01771 0.0121 0.01393 0.004596 0.007669 0.018 0.01512 73673248 ZNF33B . GRCh38 chr10 42593200 42593200 + Missense_Mutation SNP G G T rs1447007384 7316-3068 BS_Y6ZSGEPG G G c.1750C>A p.His584Asn p.H584N ENST00000359467 5/5 41 31 9 29 29 0 ZNF33B,missense_variant,p.His584Asn,ENST00000359467,NM_006955.2,NM_001305039.1,NM_001305035.1,NM_001305036.1,NM_001305040.1;ZNF33B,missense_variant,p.His584Asn,ENST00000613419,;ZNF33B,intron_variant,,ENST00000462075,;ZNF33B,intron_variant,,ENST00000465206,;ZNF33B,intron_variant,,ENST00000486187,; T ENSG00000196693 ENST00000359467 Transcript missense_variant 1865/5958 1750/2337 584/778 H/N Cat/Aat rs1447007384,COSM6233882 1 -1 ZNF33B HGNC HGNC:13097 protein_coding YES CCDS7198.1 ENSP00000352444 Q06732 UPI000007257B NM_006955.2,NM_001305039.1,NM_001305035.1,NM_001305036.1,NM_001305040.1 tolerated(1) benign(0.003) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24376:SF87,hmmpanther:PTHR24376,PROSITE_patterns:PS00028,Gene3D:2.30.30.380,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS TGA . . 42593200 AHNAK . GRCh38 chr11 62521896 62521896 + Missense_Mutation SNP A A G rs773492260 7316-3068 BS_Y6ZSGEPG A A c.12521T>C p.Val4174Ala p.V4174A ENST00000378024 5/5 55 44 5 39 38 0 AHNAK,missense_variant,p.Val4174Ala,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,; G ENSG00000124942 ENST00000378024 Transcript missense_variant 12796/18787 12521/17673 4174/5890 V/A gTc/gCc rs773492260,COSM5956421,COSM5956420 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(1) benign(0) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,hmmpanther:PTHR23348:SF41,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GAC . . 4.109e-06 8.996e-06 62521896 FAM155A . GRCh38 chr13 107866168 107866170 + In_Frame_Del DEL GCC GCC - rs761937358 7316-3068 BS_Y6ZSGEPG GCC GCC c.427_429del p.Gly143del p.G143del ENST00000375915 1/3 63 52 6 59 56 0 FAM155A,inframe_deletion,p.Gly143del,ENST00000375915,NM_001080396.2;AL136964.1,upstream_gene_variant,,ENST00000622038,;,regulatory_region_variant,,ENSR00000065591,; - ENSG00000204442 ENST00000375915 Transcript inframe_deletion 566-568/8503 427-429/1377 143/458 G/- GGC/- rs761937358,COSM1365358 1 -1 FAM155A HGNC HGNC:33877 protein_coding YES CCDS32006.1 ENSP00000365080 B1AL88 UPI000045882C NM_001080396.2 1/3 Gene3D:2.130.10.10,hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF9,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 deletion 1 0,1 PASS TTGCCG . . 0.0003085 0.0003215 0.0008535 0.0003069 0.0004019 0.0002938 0.000625 0.0002125 107866167 AHNAK2 . GRCh38 chr14 104952167 104952167 + Missense_Mutation SNP G G T rs151013711 7316-3068 BS_Y6ZSGEPG G G c.3284C>A p.Ala1095Asp p.A1095D ENST00000333244 7/7 65 56 8 32 32 0 AHNAK2,missense_variant,p.Ala1095Asp,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; T ENSG00000185567 ENST00000333244 Transcript missense_variant 3404/18254 3284/17388 1095/5795 A/D gCc/gAc rs151013711 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(1) benign(0) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0.2039 0.3041 0.0821 0.2887 0.0477 0.228 0.2694 0.04223 MODERATE 1 SNV 5 PASS GGC . . 0.09724 0.289 0.08367 0.04228 0.3013 0.02958 0.04551 0.08224 0.1626 104952167 AKAP8L . GRCh38 chr19 15418922 15418922 + Translation_Start_Site SNP A A C novel 7316-3068 BS_Y6ZSGEPG A A c.2T>G p.Met1? p.M1? ENST00000397410 1/14 53 45 7 34 34 0 AKAP8L,start_lost,p.Met1?,ENST00000397410,NM_014371.3;AKAP8L,start_lost,p.Met1?,ENST00000595465,NM_001291478.1;AKAP8L,start_lost,p.Met1?,ENST00000596195,;AKAP8L,start_lost,p.Met1?,ENST00000595067,;AKAP8L,intron_variant,,ENST00000600247,;WIZ,downstream_gene_variant,,ENST00000263381,NM_021241.2;WIZ,downstream_gene_variant,,ENST00000389282,NM_001330395.1;WIZ,downstream_gene_variant,,ENST00000545156,;WIZ,downstream_gene_variant,,ENST00000599686,;WIZ,downstream_gene_variant,,ENST00000599910,;WIZ,downstream_gene_variant,,ENST00000643092,;AKAP8L,upstream_gene_variant,,ENST00000595136,;AKAP8L,upstream_gene_variant,,ENST00000599488,;AKAP8L,start_lost,p.Met1?,ENST00000594594,;AKAP8L,start_lost,p.Met1?,ENST00000609519,;AKAP8L,start_lost,p.Met1?,ENST00000599137,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000593845,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000594893,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000596213,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000601147,;,regulatory_region_variant,,ENSR00000107646,; C ENSG00000011243 ENST00000397410 Transcript start_lost 133/2146 2/1941 1/646 M/R aTg/aGg 1 -1 AKAP8L HGNC HGNC:29857 protein_coding YES CCDS46005.1 ENSP00000380557 Q9ULX6 UPI000012FC34 NM_014371.3 deleterious_low_confidence(0) probably_damaging(0.974) 1/14 HIGH 1 SNV 1 PASS CAT . . 15418922 ZNF575 . GRCh38 chr19 43535281 43535281 + Missense_Mutation SNP T T A novel 7316-3068 BS_Y6ZSGEPG T T c.332T>A p.Leu111His p.L111H ENST00000314228 4/4 64 45 8 35 32 0 ZNF575,missense_variant,p.Leu210His,ENST00000458714,;ZNF575,missense_variant,p.Leu111His,ENST00000314228,NM_174945.2;ZNF575,missense_variant,p.Leu111His,ENST00000601282,;ZNF575,downstream_gene_variant,,ENST00000598080,;ZNF575,downstream_gene_variant,,ENST00000600154,; A ENSG00000176472 ENST00000314228 Transcript missense_variant 844/1298 332/738 111/245 L/H cTc/cAc 1 1 ZNF575 HGNC HGNC:27606 protein_coding YES CCDS12623.1 ENSP00000315870 Q86XF7 A0A024R0U0 UPI000000DA6E NM_174945.2 tolerated(0.12) benign(0.243) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR45549,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS CTC . . 43535281 LILRB3 . GRCh38 chr19 54221926 54221926 + Missense_Mutation SNP G G T rs75069054 7316-3068 BS_Y6ZSGEPG G G c.560C>A p.Thr187Asn p.T187N ENST00000245620 4/13 53 44 9 31 31 0 LILRB3,missense_variant,p.Thr187Asn,ENST00000391750,NM_001320960.1,NM_006864.3;LILRB3,missense_variant,p.Thr187Asn,ENST00000346401,;LILRB3,missense_variant,p.Thr187Asn,ENST00000245620,NM_001081450.2;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,missense_variant,p.Thr187Asn,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,;,regulatory_region_variant,,ENSR00000111471,; T ENSG00000204577 ENST00000245620 Transcript missense_variant 562/2066 560/1899 187/632 T/N aCc/aAc rs75069054 1 -1 LILRB3 HGNC HGNC:6607 protein_coding YES CCDS46175.1 ENSP00000245620 O75022 UPI00034F2393 NM_001081450.2 tolerated(0.08) benign(0.222) 4/13 Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,Superfamily_domains:SSF48726 0.5296 0.4879 0.6513 0.6359 0.5537 0.365 MODERATE 1 SNV 1 PASS GGT . . 0.4561 0.4381 0.6352 0.3639 0.7176 0.3938 0.3867 0.4969 0.3661 54221926 FCAR . GRCh38 chr19 54889670 54889670 + Missense_Mutation SNP C C T rs375603668 7316-3068 BS_Y6ZSGEPG C C c.671C>T p.Thr224Met p.T224M ENST00000355524 5/5 56 38 18 27 27 0 FCAR,missense_variant,p.Thr224Met,ENST00000355524,NM_002000.3;FCAR,missense_variant,p.Thr202Met,ENST00000391725,NM_133269.3;FCAR,missense_variant,p.Thr212Met,ENST00000359272,NM_133272.3;FCAR,missense_variant,p.Thr190Met,ENST00000391724,NM_133278.3;FCAR,missense_variant,p.Thr116Met,ENST00000391726,NM_133273.3;FCAR,missense_variant,p.Thr128Met,ENST00000345937,NM_133271.3;FCAR,missense_variant,p.Thr115Met,ENST00000353758,NM_133277.3;FCAR,synonymous_variant,p.His187=,ENST00000391723,NM_133274.3;FCAR,downstream_gene_variant,,ENST00000469767,;AC245128.3,upstream_gene_variant,,ENST00000594721,;FCAR,non_coding_transcript_exon_variant,,ENST00000482092,;FCAR,non_coding_transcript_exon_variant,,ENST00000471750,;FCAR,non_coding_transcript_exon_variant,,ENST00000472634,;FCAR,downstream_gene_variant,,ENST00000488066,; T ENSG00000186431 ENST00000355524 Transcript missense_variant 681/1483 671/864 224/287 T/M aCg/aTg rs375603668,COSM440306 1 1 FCAR HGNC HGNC:3608 protein_coding YES CCDS12907.1 ENSP00000347714 P24071 UPI000011B429 NM_002000.3 tolerated(0.12) benign(0.017) 5/5 hmmpanther:PTHR11738:SF4,hmmpanther:PTHR11738 0.0001163 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 0.0001789 0.001013 6.277e-05 0.000365 3.249e-05 54889670 MT-CO2 . GRCh38 chrM 8090 8090 + Missense_Mutation SNP G G A novel 7316-3068 BS_Y6ZSGEPG G G c.505G>A p.Gly169Ser p.G169S ENST00000361739 1/1 18417 17744 416 2988 2940 0 MT-CO2,missense_variant,p.Gly169Ser,ENST00000361739,;MT-ND3,upstream_gene_variant,,ENST00000361227,;MT-ND4L,upstream_gene_variant,,ENST00000361335,;MT-ND4,upstream_gene_variant,,ENST00000361381,;MT-ND1,downstream_gene_variant,,ENST00000361390,;MT-ND2,downstream_gene_variant,,ENST00000361453,;MT-ND5,upstream_gene_variant,,ENST00000361567,;MT-CO1,downstream_gene_variant,,ENST00000361624,;MT-ATP8,upstream_gene_variant,,ENST00000361851,;MT-ATP6,upstream_gene_variant,,ENST00000361899,;MT-CO3,upstream_gene_variant,,ENST00000362079,;MT-TL1,downstream_gene_variant,,ENST00000386347,;MT-RNR2,downstream_gene_variant,,ENST00000387347,;MT-TI,downstream_gene_variant,,ENST00000387365,;MT-TQ,upstream_gene_variant,,ENST00000387372,;MT-TM,downstream_gene_variant,,ENST00000387377,;MT-TW,downstream_gene_variant,,ENST00000387382,;MT-TA,upstream_gene_variant,,ENST00000387392,;MT-TN,upstream_gene_variant,,ENST00000387400,;MT-TC,upstream_gene_variant,,ENST00000387405,;MT-TY,upstream_gene_variant,,ENST00000387409,;MT-TS1,upstream_gene_variant,,ENST00000387416,;MT-TD,downstream_gene_variant,,ENST00000387419,;MT-TK,upstream_gene_variant,,ENST00000387421,;MT-TG,upstream_gene_variant,,ENST00000387429,;MT-TR,upstream_gene_variant,,ENST00000387439,;MT-TH,upstream_gene_variant,,ENST00000387441,;MT-TS2,upstream_gene_variant,,ENST00000387449,;MT-TL2,upstream_gene_variant,,ENST00000387456,; A ENSG00000198712 ENST00000361739 Transcript missense_variant 505/684 505/684 169/227 G/S Ggc/Agc 1 1 MT-CO2 HGNC HGNC:7421 protein_coding YES ENSP00000354876 P00403 U5Z487 UPI0000000AA4 deleterious_low_confidence(0) possibly_damaging(0.614) 1/1 PROSITE_profiles:PS50857,cd13912,hmmpanther:PTHR22888:SF9,hmmpanther:PTHR22888,PROSITE_patterns:PS00078,Gene3D:2.60.40.420,Pfam_domain:PF00116,TIGRFAM_domain:TIGR02866,Superfamily_domains:SSF49503,Prints_domain:PR01166 MODERATE 1 SNV 1 PASS AGG . . 8090 RAP1A . GRCh38 chr1 111619936 111619936 + Splice_Site SNP T T G rs1030124422 7316-2167 BS_CBVA073E T T c.-28+2T>G ENST00000369709 61 37 17 42 38 1 RAP1A,splice_donor_variant,,ENST00000369709,NM_001291896.1,NM_001010935.2,NM_002884.3;RAP1A,splice_donor_variant,,ENST00000433097,;RAP1A,intron_variant,,ENST00000356415,;,regulatory_region_variant,,ENSR00000011398,; G ENSG00000116473 ENST00000369709 Transcript splice_donor_variant rs1030124422 1 1 RAP1A HGNC HGNC:9855 protein_coding YES CCDS840.1 ENSP00000358723 P62834 A8KAH9 UPI0000001250 NM_001291896.1,NM_001010935.2,NM_002884.3 1/7 HIGH 1 SNV 1 1 PASS GTG . . 111619936 HRNR . GRCh38 chr1 152215633 152215633 + Missense_Mutation SNP T T A rs61814940 7316-2167 BS_CBVA073E T T c.5996A>T p.Gln1999Leu p.Q1999L ENST00000368801 3/3 53 40 10 31 30 0 HRNR,missense_variant,p.Gln1999Leu,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;,regulatory_region_variant,,ENSR00000254438,; A ENSG00000197915 ENST00000368801 Transcript missense_variant 6072/9623 5996/8553 1999/2850 Q/L cAg/cTg rs61814940,COSM4142662 1 -1 HRNR HGNC HGNC:20846 protein_coding YES CCDS30859.1 ENSP00000357791 Q86YZ3 UPI00001D7CAD NM_001009931.2 deleterious(0.01) benign(0.212) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 0.4632 0.4091 0.4464 0.4806 0.3934 0.4806 0.4792 0.4606 0.4598 152215633 ATP1A2 . GRCh38 chr1 160129290 160129290 + Missense_Mutation SNP G G A novel 7316-2167 BS_CBVA073E G G c.1351G>A p.Glu451Lys p.E451K ENST00000361216 11/23 59 45 12 25 25 0 ATP1A2,missense_variant,p.Glu451Lys,ENST00000361216,NM_000702.3;ATP1A2,missense_variant,p.Glu162Lys,ENST00000447527,;ATP1A2,missense_variant,p.Glu451Lys,ENST00000392233,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,downstream_gene_variant,,ENST00000468587,;,regulatory_region_variant,,ENSR00000014508,; A ENSG00000018625 ENST00000361216 Transcript missense_variant 1440/5421 1351/3063 451/1020 E/K Gag/Aag 1 1 ATP1A2 HGNC HGNC:800 protein_coding YES CCDS1196.1 ENSP00000354490 P50993 A0A0S2Z3W6 UPI0000124FC1 NM_000702.3 deleterious(0) probably_damaging(1) 11/23 SFLDF00027,SFLDG00002,cd02608,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01106,Pfam_domain:PF13246,Superfamily_domains:SSF81660,hmmpanther:PTHR43294:SF6,hmmpanther:PTHR43294 MODERATE 1 SNV 1 1 PASS TGA . . 160129290 OR2T4 . GRCh38 chr1 248361798 248361798 + Missense_Mutation SNP G G A rs73146195 7316-2167 BS_CBVA073E G G c.218G>A p.Gly73Glu p.G73E ENST00000366475 1/1 79 71 8 44 44 0 OR2T4,missense_variant,p.Gly73Glu,ENST00000366475,NM_001004696.1;OR2T4,missense_variant,p.Gly45Glu,ENST00000366473,; A ENSG00000196944 ENST00000366475 Transcript missense_variant 218/1047 218/1047 73/348 G/E gGa/gAa rs73146195,COSM4143660,COSM3997410 1 1 OR2T4 HGNC HGNC:15016 protein_coding YES CCDS31113.1 ENSP00000355431 Q8NH00 UPI000004B9CC NM_001004696.1 deleterious(0.02) benign(0.012) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF316,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15421 0,1,1 MODERATE 1 SNV 0,1,1 PASS GGA . . 0.06438 0.2526 0.04486 0.01705 0.09542 0.08532 0.0446 0.03626 0.0489 248361798 OR2T4 . GRCh38 chr1 248361833 248361833 + Missense_Mutation SNP G G A rs76721536 7316-2167 BS_CBVA073E G G c.253G>A p.Ala85Thr p.A85T ENST00000366475 1/1 77 65 11 42 42 0 OR2T4,missense_variant,p.Ala85Thr,ENST00000366475,NM_001004696.1;OR2T4,missense_variant,p.Ala57Thr,ENST00000366473,; A ENSG00000196944 ENST00000366475 Transcript missense_variant 253/1047 253/1047 85/348 A/T Gcc/Acc rs76721536,COSM3746176 1 1 OR2T4 HGNC HGNC:15016 protein_coding YES CCDS31113.1 ENSP00000355431 Q8NH00 UPI000004B9CC NM_001004696.1 tolerated(0.49) benign(0.001) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF316,Superfamily_domains:SSF81321,cd15421 0.3083 0.3374 0.2392 0.3819 0.2207 0.3323 0,1 MODERATE 1 SNV 0,1 PASS CGC . . 0.1497 0.2123 0.1406 0.09894 0.2592 0.1989 0.1239 0.1059 0.1728 248361833 OR2T4 . GRCh38 chr1 248361836 248361836 + Missense_Mutation SNP C C T rs75096121 7316-2167 BS_CBVA073E C C c.256C>T p.His86Tyr p.H86Y ENST00000366475 1/1 79 66 11 44 44 0 OR2T4,missense_variant,p.His86Tyr,ENST00000366475,NM_001004696.1;OR2T4,missense_variant,p.His58Tyr,ENST00000366473,; T ENSG00000196944 ENST00000366475 Transcript missense_variant 256/1047 256/1047 86/348 H/Y Cac/Tac rs75096121,COSM3746177 1 1 OR2T4 HGNC HGNC:15016 protein_coding YES CCDS31113.1 ENSP00000355431 Q8NH00 UPI000004B9CC NM_001004696.1 deleterious(0.03) benign(0.022) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF316,Superfamily_domains:SSF81321,cd15421 0.3075 0.3343 0.2392 0.3819 0.2207 0.3323 0,1 MODERATE 1 SNV 0,1 PASS CCA . . 0.1544 0.207 0.1462 0.105 0.2631 0.2036 0.1291 0.1109 0.1775 248361836 LAMA2 . GRCh38 chr6 129315524 129315524 + Missense_Mutation SNP C C G rs778913439 7316-2167 BS_CBVA073E C C c.3604C>G p.Leu1202Val p.L1202V ENST00000421865 25/65 69 62 6 35 35 0 LAMA2,missense_variant,p.Leu1202Val,ENST00000618192,;LAMA2,missense_variant,p.Leu1202Val,ENST00000617695,;LAMA2,missense_variant,p.Leu1202Val,ENST00000421865,NM_000426.3,NM_001079823.1; G ENSG00000196569 ENST00000421865 Transcript missense_variant 3653/9640 3604/9369 1202/3122 L/V Ctg/Gtg rs778913439 1 1 LAMA2 HGNC HGNC:6482 protein_coding YES CCDS5138.1 ENSP00000400365 P24043 UPI00003673E0 NM_000426.3,NM_001079823.1 tolerated(0.06) benign(0.006) 25/65 Gene3D:2.10.25.10,PDB-ENSP_mappings:4yep.A,PDB-ENSP_mappings:4yep.B,PDB-ENSP_mappings:4yeq.U,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291 MODERATE 1 SNV 5 1 PASS TCT . . 4.061e-06 8.953e-06 129315524 BRAF . GRCh38 chr7 140783106 140783106 + Missense_Mutation SNP A A T novel 7316-2167 BS_CBVA073E A A c.1229T>A p.Leu410Gln p.L410Q ENST00000646891 10/18 90 69 19 41 40 0 BRAF,missense_variant,p.Leu410Gln,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Leu410Gln,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Leu450Gln,ENST00000288602,;BRAF,missense_variant,p.Leu450Gln,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Leu410Gln,ENST00000646730,;BRAF,missense_variant,p.Leu109Gln,ENST00000644650,;BRAF,missense_variant,p.Leu91Gln,ENST00000647434,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,non_coding_transcript_exon_variant,,ENST00000642875,;BRAF,non_coding_transcript_exon_variant,,ENST00000646334,;BRAF,upstream_gene_variant,,ENST00000479537,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 1454/6458 1229/2301 410/766 L/Q cTa/cAa 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 tolerated(0.3) possibly_damaging(0.791) 10/18 mobidb-lite,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 MODERATE 1 SNV 1 PASS TAG . . 140783106 TUT7 . GRCh38 chr9 86301488 86301488 + Missense_Mutation SNP A A T novel 7316-2167 BS_CBVA073E A A c.4208T>A p.Val1403Glu p.V1403E ENST00000375963 26/27 69 57 5 39 37 0 TUT7,missense_variant,p.Val692Glu,ENST00000277141,;TUT7,missense_variant,p.Val1403Glu,ENST00000375963,NM_024617.3,NM_001185059.1;TUT7,missense_variant,p.Val1167Glu,ENST00000375960,NM_001185074.1;TUT7,missense_variant,p.Val303Glu,ENST00000375957,; T ENSG00000083223 ENST00000375963 Transcript missense_variant 4381/5379 4208/4488 1403/1495 V/E gTg/gAg 1 -1 TUT7 HGNC HGNC:25817 protein_coding YES CCDS35057.1 ENSP00000365130 Q5VYS8 UPI00004588F6 NM_024617.3,NM_001185059.1 tolerated(0.17) benign(0.109) 26/27 mobidb-lite,hmmpanther:PTHR12271:SF34,hmmpanther:PTHR12271,Gene3D:4.10.60.10,Pfam_domain:PF16631 MODERATE 1 SNV 5 PASS CAC . . 86301488 HNRNPA1P30 . GRCh38 chr13 20948971 20948972 + Splice_Region INS - - TTC rs201460408 7316-2167 BS_CBVA073E - - n.326-7_326-6insGAA ENST00000440699 45 23 7 34 22 0 HNRNPA1P30,intron_variant,,ENST00000424329,;HNRNPA1P30,splice_region_variant,,ENST00000440699,; TTC ENSG00000233780 ENST00000440699 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs201460408 1 -1 HNRNPA1P30 HGNC HGNC:39548 transcribed_processed_pseudogene YES 1/1 LOW 1 insertion PASS CTT . . 20948971 MYO15B . GRCh38 chr17 75589426 75589426 + Missense_Mutation SNP T T G rs189417677 7316-2167 BS_CBVA073E T T c.1369T>G p.Tyr457Asp p.Y457D ENST00000610510 1/63 54 29 10 41 36 2 MYO15B,missense_variant,p.Tyr457Asp,ENST00000610510,NM_001309242.1;MYO15B,missense_variant,p.Tyr457Asp,ENST00000645453,;MYO15B,upstream_gene_variant,,ENST00000578564,;MYO15B,upstream_gene_variant,,ENST00000582561,;MYO15B,missense_variant,p.Tyr457Asp,ENST00000621743,;MYO15B,missense_variant,p.Tyr457Asp,ENST00000619501,;MYO15B,missense_variant,p.Tyr457Asp,ENST00000584516,;MYO15B,upstream_gene_variant,,ENST00000581612,;MYO15B,upstream_gene_variant,,ENST00000581866,;,regulatory_region_variant,,ENSR00000098410,; G ENSG00000266714 ENST00000610510 Transcript missense_variant 1369/9195 1369/9195 457/3064 Y/D Tac/Gac rs189417677 1 1 MYO15B HGNC HGNC:14083 protein_coding YES ENSP00000488624 A0A0J9YY01 UPI00064546F0 NM_001309242.1 tolerated_low_confidence(0.2) unknown(0) 1/63 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTA . . 75589426 LILRA1 . GRCh38 chr19 54595789 54595789 + Missense_Mutation SNP C C G rs1006660661 7316-2167 BS_CBVA073E C C c.812C>G p.Pro271Arg p.P271R ENST00000251372 6/10 63 51 10 41 41 0 LILRA1,missense_variant,p.Pro271Arg,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; G ENSG00000104974 ENST00000251372 Transcript missense_variant 994/1910 812/1470 271/489 P/R cCa/cGa rs1006660661 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(1) benign(0.001) 6/10 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CCA . . 4.061e-06 8.952e-06 54595789 LILRA1 . GRCh38 chr19 54595864 54595864 + Missense_Mutation SNP G G C rs757520653 7316-2167 BS_CBVA073E G G c.887G>C p.Arg296Thr p.R296T ENST00000251372 6/10 65 47 15 55 51 2 LILRA1,missense_variant,p.Arg296Thr,ENST00000251372,NM_001278319.1,NM_006863.3;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,; C ENSG00000104974 ENST00000251372 Transcript missense_variant 1069/1910 887/1470 296/489 R/T aGa/aCa rs757520653 1 1 LILRA1 HGNC HGNC:6602 protein_coding YES CCDS12901.1 ENSP00000251372 O75019 UPI0000034C00 NM_001278319.1,NM_006863.3 tolerated(0.09) benign(0.181) 6/10 Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS AGA . . 6.105e-05 5.972e-05 0.0001346 6.278e-05 0.0001826 6.51e-05 54595864 SUSD2 . GRCh38 chr22 24183081 24183081 + Missense_Mutation SNP G G A rs62231981 7316-2167 BS_CBVA073E G G c.101G>A p.Arg34His p.R34H ENST00000358321 2/15 96 77 18 48 46 1 SUSD2,missense_variant,p.Arg34His,ENST00000358321,NM_019601.3;CABIN1,downstream_gene_variant,,ENST00000263119,NM_012295.3;CABIN1,downstream_gene_variant,,ENST00000337989,;CABIN1,downstream_gene_variant,,ENST00000398319,NM_001199281.1;CABIN1,downstream_gene_variant,,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000617531,NM_001201429.1;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,; A ENSG00000099994 ENST00000358321 Transcript missense_variant 362/3404 101/2469 34/822 R/H cGc/cAc rs62231981,COSM1178084 1 1 SUSD2 HGNC HGNC:30667 protein_coding YES CCDS13824.1 ENSP00000351075 Q9UGT4 A0A140VJW3 UPI000006CC92 NM_019601.3 tolerated(0.08) benign(0.133) 2/15 PROSITE_profiles:PS50958,hmmpanther:PTHR13802:SF43,hmmpanther:PTHR13802,Pfam_domain:PF01033,Superfamily_domains:SSF90188 0,1 MODERATE 1 SNV 1 0,1 PASS CGC . . 0.4722 0.3229 0.4827 0.4869 0.4767 0.4939 0.4844 0.4738 0.4554 24183081 ATAD3B . GRCh38 chr1 1495785 1495785 + Missense_Mutation SNP C C T rs9792879 7316-472 BS_PSAZZC71 C C c.1915C>T p.Pro639Ser p.P639S ENST00000308647 16/16 62 52 9 30 30 0 ATAD3B,missense_variant,p.Pro639Ser,ENST00000308647,NM_001317238.1,NM_031921.5;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000485748,; T ENSG00000160072 ENST00000308647 Transcript missense_variant 2031/2448 1915/1947 639/648 P/S Ccg/Tcg rs9792879,COSM226436 1 1 ATAD3B HGNC HGNC:24007 protein_coding YES CCDS30.1 ENSP00000311766 Q5T9A4 UPI000013E044 NM_001317238.1,NM_031921.5 tolerated_low_confidence(0.34) benign(0.001) 16/16 0,1 MODERATE 1 SNV 1 0,1 PASS GCC . . 0.1787 0.3339 0.1321 0.07124 0.4117 0.2373 0.1309 0.1347 0.2306 1495785 SLC35E2A . GRCh38 chr1 1734736 1734736 + Missense_Mutation SNP C C T rs61777509 7316-472 BS_PSAZZC71 C C c.686G>A p.Arg229His p.R229H ENST00000643905 5/6 50 41 8 34 34 0 SLC35E2A,missense_variant,p.Arg229His,ENST00000643905,NM_182838.2;SLC35E2A,missense_variant,p.Arg229His,ENST00000355439,NM_001199787.1;AL031282.2,non_coding_transcript_exon_variant,,ENST00000598846,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000647043,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000246421,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000475229,;AL031282.1,intron_variant,,ENST00000424604,;AL031282.1,intron_variant,,ENST00000577672,;AL031282.1,downstream_gene_variant,,ENST00000417099,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000643943,;AL031282.1,upstream_gene_variant,,ENST00000418950,; T ENSG00000215790 ENST00000643905 Transcript missense_variant 1109/6293 686/801 229/266 R/H cGt/cAt rs61777509,COSM4142977 1 -1 SLC35E2A HGNC HGNC:20863 protein_coding YES CCDS33.1 ENSP00000495949 UPI000006FA83 NM_182838.2 tolerated_low_confidence(0.23) possibly_damaging(0.477) 5/6 mobidb-lite,hmmpanther:PTHR44413,hmmpanther:PTHR44413:SF1 0,1 MODERATE SNV 0,1 PASS ACG . . 0.3075 0.08801 0.2931 0.3425 0.1221 0.4248 0.3581 0.3075 0.2544 1734736 NBPF11 . GRCh38 chr1 148125000 148125000 + Missense_Mutation SNP C C G rs78214734 7316-472 BS_PSAZZC71 C C c.177G>C p.Lys59Asn p.K59N ENST00000615281 6/24 31 22 6 22 22 0 NBPF11,missense_variant,p.Lys59Asn,ENST00000615281,NM_183372.5;NBPF11,missense_variant,p.Lys59Asn,ENST00000614015,NM_001101663.4;NBPF11,intron_variant,,ENST00000613531,;NBPF11,intron_variant,,ENST00000614785,;NBPF11,intron_variant,,ENST00000614506,;PFN1P4,upstream_gene_variant,,ENST00000450970,; G ENSG00000263956 ENST00000615281 Transcript missense_variant,splice_region_variant 1328/5494 177/2598 59/865 K/N aaG/aaC rs78214734 1 -1 NBPF11 HGNC HGNC:31993 protein_coding YES CCDS41381.2 ENSP00000477509 Q86T75 UPI0000198783 NM_183372.5 tolerated(0.09) benign(0.005) 6/24 hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF28,Gene3D:3.20.20.140 MODERATE 1 SNV 1 PASS ACT . . 148125000 CEP170 . GRCh38 chr1 243165585 243165585 + Nonsense_Mutation SNP G G T rs2728433 7316-472 BS_PSAZZC71 G G c.2375C>A p.Ser792Ter p.S792* ENST00000366542 13/20 71 60 9 51 51 0 CEP170,stop_gained,p.Ser792Ter,ENST00000366542,NM_014812.2;CEP170,stop_gained,p.Ser694Ter,ENST00000366544,NM_001042404.1;CEP170,stop_gained,p.Ser694Ter,ENST00000366543,NM_001042405.1;CEP170,stop_gained,p.Ser756Ter,ENST00000336415,;CEP170,upstream_gene_variant,,ENST00000413359,;CEP170,upstream_gene_variant,,ENST00000464936,;CEP170,upstream_gene_variant,,ENST00000490813,;CEP170,upstream_gene_variant,,ENST00000492145,;CEP170,downstream_gene_variant,,ENST00000522895,;AL606534.2,intron_variant,,ENST00000422938,;AL606534.2,intron_variant,,ENST00000437499,;CEP170,non_coding_transcript_exon_variant,,ENST00000451408,;CEP170,downstream_gene_variant,,ENST00000518289,;CEP170,downstream_gene_variant,,ENST00000461671,; T ENSG00000143702 ENST00000366542 Transcript stop_gained 2427/6828 2375/4755 792/1584 S/* tCa/tAa rs2728433,COSM4143583,COSM228300 1 -1 CEP170 HGNC HGNC:28920 protein_coding YES CCDS44339.1 ENSP00000355500 Q5SW79 UPI0000470238 NM_014812.2 13/20 hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17,mobidb-lite 0,1,1 HIGH 1 SNV 5 0,1,1 PASS TGA . . 0.03292 0.02555 0.009922 0.01419 0.05843 0.06083 0.04001 0.03082 0.02528 243165585 SLC7A15P . GRCh38 chr2 20387095 20387095 + Splice_Region SNP C C T rs78622262 7316-472 BS_PSAZZC71 C C n.705+5C>T ENST00000424028 55 48 6 27 25 0 SLC7A15P,splice_region_variant,,ENST00000424028,; T ENSG00000232800 ENST00000424028 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs78622262 1 1 SLC7A15P HGNC HGNC:32724 unitary_pseudogene YES 1/5 LOW 1 SNV PASS TCT . . 20387095 VPS8 . GRCh38 chr3 184839756 184839756 + Splice_Region SNP A A G novel 7316-472 BS_PSAZZC71 A A c.535+4A>G ENST00000625842 83 73 5 43 42 0 VPS8,missense_variant,p.Lys180Arg,ENST00000287546,NM_001349295.1,NM_001349292.1,NM_001349294.1,NM_001349293.1;VPS8,splice_region_variant,,ENST00000422105,;VPS8,splice_region_variant,,ENST00000436792,NM_015303.3;VPS8,splice_region_variant,,ENST00000446204,;VPS8,splice_region_variant,,ENST00000625842,NM_001009921.2;VPS8,3_prime_UTR_variant,,ENST00000424463,;VPS8,downstream_gene_variant,,ENST00000426319,;VPS8,intron_variant,,ENST00000452666,;VPS8,splice_region_variant,,ENST00000469479,;VPS8,downstream_gene_variant,,ENST00000460158,; G ENSG00000156931 ENST00000625842 Transcript splice_region_variant,intron_variant 1 1 VPS8 HGNC HGNC:29122 protein_coding YES CCDS46971.1 ENSP00000487164 Q8N3P4 UPI0000160BDC NM_001009921.2 7/47 LOW 1 SNV 5 PASS AAA . . 184839756 MUC4 . GRCh38 chr3 195783895 195783895 + Missense_Mutation SNP G G T rs79949955 7316-472 BS_PSAZZC71 G G c.7685C>A p.Pro2562His p.P2562H ENST00000463781 2/25 59 41 8 36 29 0 MUC4,missense_variant,p.Pro2562His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2562His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2562His,ENST00000478156,;MUC4,missense_variant,p.Pro2562His,ENST00000466475,;MUC4,missense_variant,p.Pro2562His,ENST00000477756,;MUC4,missense_variant,p.Pro2562His,ENST00000477086,;MUC4,missense_variant,p.Pro2562His,ENST00000480843,;MUC4,missense_variant,p.Pro2562His,ENST00000462323,;MUC4,missense_variant,p.Pro2562His,ENST00000470451,;MUC4,missense_variant,p.Pro2562His,ENST00000479406,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 8145/17110 7685/16239 2562/5412 P/H cCt/cAt rs79949955,COSM3774082 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 deleterious_low_confidence(0.02) possibly_damaging(0.897) 2/25 mobidb-lite,hmmpanther:PTHR42668 0.0799 0.1029 0.1138 0.0208 0.0517 0.1145 0,1 MODERATE 1 SNV 5 0,1 1 PASS AGG . . 0.006441 0.009301 0.01276 0.006356 0.003309 0.003155 0.004694 0.007197 0.01038 195783895 HLA-DRB1 . GRCh38 chr6 32580779 32580779 + Missense_Mutation SNP C C T rs3830125 7316-472 BS_PSAZZC71 C C c.730G>A p.Ala244Thr p.A244T ENST00000360004 4/6 70 59 9 45 43 0 HLA-DRB1,missense_variant,p.Ala244Thr,ENST00000360004,NM_002124.3; T ENSG00000196126 ENST00000360004 Transcript missense_variant 836/1229 730/801 244/266 A/T Gcc/Acc rs3830125,COSM4006426 1 -1 HLA-DRB1 HGNC HGNC:4948 protein_coding YES CCDS47409.1 ENSP00000353099 Q29974,P01911,Q9GIY3,P04229 X5DNQ0,D7RIH8 UPI000008A1F7 NM_002124.3 deleterious(0.03) probably_damaging(0.995) 4/6 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19944:SF84,hmmpanther:PTHR19944 0,1 MODERATE 1 SNV 0,1 1 PASS GCC . . 0.003781 0.01454 0.0001579 0.002859 0.000689 0.0002285 0.005768 0.002122 0.0005847 32580779 DSE . GRCh38 chr6 116437199 116437199 + Missense_Mutation SNP A A G novel 7316-472 BS_PSAZZC71 A A c.2731A>G p.Ile911Val p.I911V ENST00000644252 6/6 71 45 25 40 40 0 DSE,missense_variant,p.Ile911Val,ENST00000644252,NM_013352.3,NM_001322941.1,NM_001322939.1,NM_001322937.1,NM_001322940.1,NM_001322938.1;DSE,missense_variant,p.Ile911Val,ENST00000452085,NM_001080976.2;DSE,missense_variant,p.Ile911Val,ENST00000331677,;DSE,3_prime_UTR_variant,,ENST00000359564,NM_001322944.1;DSE,3_prime_UTR_variant,,ENST00000646710,NM_001322943.1;Z84488.2,intron_variant,,ENST00000644499,;DSE,downstream_gene_variant,,ENST00000647244,;DSE,non_coding_transcript_exon_variant,,ENST00000606712,; G ENSG00000111817 ENST00000644252 Transcript missense_variant 2959/10617 2731/2877 911/958 I/V Att/Gtt 1 1 DSE HGNC HGNC:21144 protein_coding YES CCDS5107.1 ENSP00000494147 UPI0000073CB8 NM_013352.3,NM_001322941.1,NM_001322939.1,NM_001322937.1,NM_001322940.1,NM_001322938.1 tolerated_low_confidence(0.16) benign(0.054) 6/6 Transmembrane_helices:TMhelix,hmmpanther:PTHR15532:SF3,hmmpanther:PTHR15532 MODERATE 1 SNV 1 PASS TAT . . 116437199 EPM2A . GRCh38 chr6 145384101 145384101 + Splice_Region DEL A A - rs11291083 7316-472 BS_PSAZZC71 A A c.556-4del ENST00000638717 61 50 5 42 42 0 EPM2A,splice_region_variant,,ENST00000638717,; - ENSG00000112425 ENST00000638717 Transcript splice_region_variant,intron_variant rs11291083 1 -1 EPM2A HGNC HGNC:3413 protein_coding ENSP00000491330 A0A1W2PPT8 UPI00097BA5EF 4/4 0.3399 0.2625 0.3458 0.2371 0.3956 0.4888 LOW 1 deletion 5 1 PASS TGAA . . 145384100 PRSS3P1 . GRCh38 chr7 142761634 142761634 + Splice_Region SNP A A C rs754717843 7316-472 BS_PSAZZC71 A A n.200A>C ENST00000503996 2/5 67 52 10 30 30 0 PRSS2,intron_variant,,ENST00000632998,;,regulatory_region_variant,,ENSR00000219298,;PRSS3P1,splice_region_variant,,ENST00000503996,; C ENSG00000250591 ENST00000503996 Transcript splice_region_variant,non_coding_transcript_exon_variant 200/742 rs754717843 1 1 PRSS3P1 HGNC HGNC:43787 unprocessed_pseudogene YES 2/5 LOW 1 SNV PASS TAG . . 142761634 PRSS3P1 . GRCh38 chr7 142761635 142761635 + Splice_Site SNP G G A rs1042595433 7316-472 BS_PSAZZC71 G G n.200+1G>A ENST00000503996 67 53 9 30 30 0 PRSS2,intron_variant,,ENST00000632998,;,regulatory_region_variant,,ENSR00000219298,;PRSS3P1,splice_donor_variant,,ENST00000503996,; A ENSG00000250591 ENST00000503996 Transcript splice_donor_variant,non_coding_transcript_variant rs1042595433 1 1 PRSS3P1 HGNC HGNC:43787 unprocessed_pseudogene YES 2/4 HIGH 1 SNV PASS AGT . . 142761635 OSGIN2 . GRCh38 chr8 89909563 89909563 + Splice_Region SNP A A T rs773936861 7316-472 BS_PSAZZC71 A A c.45-4A>T ENST00000451899 67 58 6 40 40 0 OSGIN2,splice_region_variant,,ENST00000297438,NM_004337.2;OSGIN2,splice_region_variant,,ENST00000451899,NM_001126111.2;OSGIN2,splice_region_variant,,ENST00000520659,; T ENSG00000164823 ENST00000451899 Transcript splice_region_variant,intron_variant rs773936861,COSM4769633 1 1 OSGIN2 HGNC HGNC:1355 protein_coding YES CCDS47888.1 ENSP00000396445 Q9Y236 UPI0000E5AF0B NM_001126111.2 1/5 0,1 LOW 1 SNV 1 0,1 PASS TAA . . 0.0006278 0.0005772 0.00139 0.0006601 0.001361 0.0008311 0.0003801 0.0007337 0.0004284 89909563 OR5D14 . GRCh38 chr11 55796252 55796252 + Missense_Mutation SNP G G C novel 7316-472 BS_PSAZZC71 G G c.697G>C p.Val233Leu p.V233L ENST00000335605 1/1 56 38 18 37 37 0 OR5D14,missense_variant,p.Val233Leu,ENST00000335605,NM_001004735.1; C ENSG00000186113 ENST00000335605 Transcript missense_variant 697/945 697/945 233/314 V/L Gtt/Ctt 1 1 OR5D14 HGNC HGNC:15281 protein_coding YES CCDS31508.1 ENSP00000334456 Q8NGL3 UPI000004B1F6 NM_001004735.1 deleterious(0) benign(0.024) 1/1 PROSITE_profiles:PS50262,cd15410,hmmpanther:PTHR26452:SF67,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321 MODERATE 1 SNV PASS TGT . . 55796252 CCNT1 . GRCh38 chr12 48698189 48698189 + Splice_Region SNP G G A rs375518265 7316-472 BS_PSAZZC71 G G c.497-6C>T ENST00000261900 68 45 11 31 29 1 CCNT1,splice_region_variant,,ENST00000261900,NM_001240.3;CCNT1,splice_region_variant,,ENST00000618666,NM_001277842.1;CCNT1,splice_region_variant,,ENST00000640148,;CCNT1,splice_region_variant,,ENST00000417344,;CCNT1,upstream_gene_variant,,ENST00000551989,; A ENSG00000129315 ENST00000261900 Transcript splice_region_variant,intron_variant rs375518265 1 -1 CCNT1 HGNC HGNC:1599 protein_coding YES CCDS8766.1 ENSP00000261900 O60563 UPI0000044259 NM_001240.3 5/8 LOW 1 SNV 1 PASS AGA . . 0.1478 0.1112 0.09416 0.1377 0.109 0.2886 0.1391 0.127 0.1405 48698189 IGHV3-11 . GRCh38 chr14 106116668 106116668 + Missense_Mutation SNP G G T novel 7316-472 BS_PSAZZC71 G G c.320C>A p.Ala107Asp p.A107D ENST00000390601 2/2 74 61 11 45 45 0 IGHV3-11,missense_variant,p.Ala107Asp,ENST00000390601,;,regulatory_region_variant,,ENSR00000073874,;,regulatory_region_variant,,ENSR00000276368,;IGHVIII-11-1,downstream_gene_variant,,ENST00000522733,; T ENSG00000211941 ENST00000390601 Transcript missense_variant 440/473 320/353 107/117 A/D gCc/gAc 1 -1 IGHV3-11 HGNC HGNC:5580 IG_V_gene YES ENSP00000375010 P01762 UPI0002C6D522 deleterious_low_confidence(0.04) benign(0.115) 2/2 MODERATE 1 SNV PASS GGC . . 106116668 MUC16 . GRCh38 chr19 8889837 8889837 + Missense_Mutation SNP G G A rs541610415 7316-472 BS_PSAZZC71 G G c.40471C>T p.Arg13491Trp p.R13491W ENST00000397910 54/84 55 28 26 30 29 0 MUC16,missense_variant,p.Arg13491Trp,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Arg331Trp,ENST00000599436,;MUC16,missense_variant,p.Arg331Trp,ENST00000601404,;MUC16,missense_variant,p.Arg111Trp,ENST00000596768,; A ENSG00000181143 ENST00000397910 Transcript missense_variant 40675/43816 40471/43524 13491/14507 R/W Cgg/Tgg rs541610415,COSM6437900,COSM6437899,COSM475526,COSM475525 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 probably_damaging(0.996) 54/84 PROSITE_profiles:PS50024,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672,Pfam_domain:PF01390,Gene3D:3.30.70.960,SMART_domains:SM00200,Superfamily_domains:SSF82671 0.0004 0.002 0,1,1,1,1 MODERATE 1 SNV 5 0,1,1,1,1 1 PASS CGC . . 1.219e-05 1.793e-05 3.25e-05 8889837 SMARCB1 . GRCh38 chr22 23825298 23825298 + Missense_Mutation SNP C C T 7316-472 BS_PSAZZC71 C C c.896C>T p.Pro299Leu p.P299L ENST00000344921 7/9 44 33 9 36 36 0 SMARCB1,missense_variant,p.Pro290Leu,ENST00000644036,NM_003073.4;SMARCB1,missense_variant,p.Pro281Leu,ENST00000407422,NM_001007468.2;SMARCB1,missense_variant,p.Pro299Leu,ENST00000344921,NM_001317946.1;SMARCB1,missense_variant,p.Pro244Leu,ENST00000263121,;SMARCB1,3_prime_UTR_variant,,ENST00000644462,;SMARCB1,3_prime_UTR_variant,,ENST00000647057,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000646723,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000645799,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000477836,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000646911,; T ENSG00000099956 ENST00000344921 Transcript missense_variant 1103/1717 896/1185 299/394 P/L cCa/cTa COSM1054 1 1 SMARCB1 HGNC HGNC:11103 protein_coding YES CCDS82699.1 ENSP00000340883 G5E975 UPI000013D3AE NM_001317946.1 deleterious(0) probably_damaging(0.99) 7/9 hmmpanther:PTHR10019,hmmpanther:PTHR10019:SF5,PIRSF_domain:PIRSF038126,Pfam_domain:PF04855 1 MODERATE 1 SNV 2 1 1 PASS CCA . . 23825298 TMEM78 . GRCh38 chr1 229249959 229249960 + Frame_Shift_Del DEL TC TC - rs138879564 7316-148 BS_DTYN7DX6 TC TC c.277_278del p.Ser93ProfsTer37 p.S93Pfs*37 ENST00000323223 1/1 71 63 5 29 23 0 TMEM78,frameshift_variant,p.Ser93ProfsTer37,ENST00000323223,; - ENSG00000177800 ENST00000323223 Transcript frameshift_variant 324-325/2175 265-266/411 89/136 S/X TCt/t rs138879564,COSM6033965 1 1 TMEM78 HGNC HGNC:32307 protein_coding YES ENSP00000324799 Q5T7P6 UPI0000141045 1/1 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix 0,1 HIGH 1 deletion 12 0,1 PASS TTTCT . . 0.001928 0.0007692 0.001323 0.003289 0.0006105 0.002493 0.001848 0.00137 0.003258 229249958 ANKRD36C . GRCh38 chr2 95886226 95886226 + Missense_Mutation SNP A A G rs2442243 7316-148 BS_DTYN7DX6 A A c.3080T>C p.Leu1027Pro p.L1027P ENST00000456556 51/67 53 37 15 33 33 0 ANKRD36C,missense_variant,p.Leu1027Pro,ENST00000456556,NM_001310154.1;ANKRD36C,missense_variant,p.Leu460Pro,ENST00000295246,;ANKRD36C,3_prime_UTR_variant,,ENST00000534304,;ANKRD36C,non_coding_transcript_exon_variant,,ENST00000531153,; G ENSG00000174501 ENST00000456556 Transcript missense_variant 3165/5428 3080/5337 1027/1778 L/P cTg/cCg rs2442243,COSM4134112,COSM4134111,COSM4134110,COSM4134109 1 -1 ANKRD36C HGNC HGNC:32946 protein_coding YES ENSP00000403302 Q5JPF3 UPI00016620F5 NM_001310154.1 tolerated(1) benign(0) 51/67 hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1,mobidb-lite 0.1947 0.0159 0.2666 0.131 0.2863 0.3569 0,1,1,1,1 MODERATE 1 SNV 5 0,1,1,1,1 PASS CAG . . 0.2016 0.06341 0.2903 0.1068 0.3418 0.06053 0.1839 0.2478 0.2602 95886226 SVIL . GRCh38 chr10 29490918 29490918 + Missense_Mutation SNP A A C rs199726033 7316-148 BS_DTYN7DX6 A A c.4121T>G p.Leu1374Arg p.L1374R ENST00000355867 22/38 79 69 7 43 43 0 SVIL,missense_variant,p.Leu1342Arg,ENST00000375398,;SVIL,missense_variant,p.Leu1374Arg,ENST00000355867,NM_001323599.1,NM_021738.2;SVIL,missense_variant,p.Leu948Arg,ENST00000375400,NM_001323600.1,NM_003174.3;SVIL,missense_variant,p.Leu300Arg,ENST00000632315,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL-AS1,downstream_gene_variant,,ENST00000413405,;SVIL,upstream_gene_variant,,ENST00000482607,;SVIL,downstream_gene_variant,,ENST00000491872,; C ENSG00000197321 ENST00000355867 Transcript missense_variant 4874/7586 4121/6645 1374/2214 L/R cTc/cGc rs199726033,COSM146919 1 -1 SVIL HGNC HGNC:11480 protein_coding YES CCDS7164.1 ENSP00000348128 O95425 UPI0000366678 NM_001323599.1,NM_021738.2 deleterious(0) possibly_damaging(0.506) 22/38 hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF45 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.1071 0.01054 0.06654 0.2243 0.01734 0.1831 0.1105 0.1149 0.1928 29490918 TMEM254-AS1 . GRCh38 chr10 80060937 80060938 + Splice_Region INS - - A rs758229971 7316-148 BS_DTYN7DX6 - - n.170-5dup ENST00000412298 69 50 7 40 37 0 TMEM254-AS1,splice_region_variant,,ENST00000412298,;TMEM254-AS1,splice_region_variant,,ENST00000432070,;TMEM254-AS1,splice_region_variant,,ENST00000448729,; A ENSG00000230091 ENST00000412298 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs758229971 1 -1 TMEM254-AS1 HGNC HGNC:27340 antisense YES 1/5 LOW 1 insertion 2 PASS GGA . . 80060937 PRB4 . GRCh38 chr12 11308808 11308808 + Missense_Mutation SNP C C T rs776943151 7316-148 BS_DTYN7DX6 C C c.175G>A p.Gly59Arg p.G59R ENST00000279575 3/4 87 67 10 30 27 0 PRB4,missense_variant,p.Gly59Arg,ENST00000279575,NM_002723.5;PRB4,missense_variant,p.Gly59Arg,ENST00000535904,;PRB4,missense_variant,p.Gly59Arg,ENST00000621732,NM_001261399.2;PRB4,missense_variant,p.Gly59Arg,ENST00000445719,; T ENSG00000230657 ENST00000279575 Transcript missense_variant 212/916 175/744 59/247 G/R Gga/Aga rs776943151,COSM1579461 1 -1 PRB4 HGNC HGNC:9340 protein_coding YES CCDS8641.1 ENSP00000279575 E9PAL0 UPI000013DBDC NM_002723.5 tolerated_low_confidence(0.33) benign(0.001) 3/4 Pfam_domain:PF15240,Prints_domain:PR01217,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,SMART_domains:SM01412,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 5 0,1 PASS CCT . . 0.003797 0.005671 0.003623 0.001827 0.007678 0.002934 0.003451 0.005359 0.003581 11308808 CACNA1A . GRCh38 chr19 13208878 13208880 + In_Frame_Del DEL GAT GAT - rs749638821 7316-148 BS_DTYN7DX6 GAT GAT c.6674_6676del p.His2225del p.H2225del ENST00000638029 47/48 75 54 17 31 30 0 CACNA1A,inframe_deletion,p.His2220del,ENST00000638009,NM_001127221.1;CACNA1A,inframe_deletion,p.His2220del,ENST00000635895,;CACNA1A,inframe_deletion,p.His2220del,ENST00000637769,;CACNA1A,inframe_deletion,p.His2219del,ENST00000360228,NM_001127222.1;CACNA1A,inframe_deletion,p.His2225del,ENST00000614285,;CACNA1A,inframe_deletion,p.His2173del,ENST00000637736,;CACNA1A,inframe_deletion,p.His2220del,ENST00000636389,;CACNA1A,inframe_deletion,p.His2225del,ENST00000638029,NM_023035.2;CACNA1A,inframe_deletion,p.His2225del,ENST00000637432,NM_000068.3;CACNA1A,inframe_deletion,p.His2221del,ENST00000573710,;CACNA1A,inframe_deletion,p.His2220del,ENST00000635727,;CACNA1A,inframe_deletion,p.His2208del,ENST00000636012,;CACNA1A,inframe_deletion,p.His2208del,ENST00000637276,;CACNA1A,inframe_deletion,p.His2221del,ENST00000637927,;CACNA1A,inframe_deletion,p.His2222del,ENST00000636549,NM_001174080.1;CACNA1A,inframe_deletion,p.His694del,ENST00000587525,;CACNA1A,inframe_deletion,p.His594del,ENST00000585802,;CACNA1A,inframe_deletion,p.His509del,ENST00000636473,;CACNA1A,downstream_gene_variant,,ENST00000637819,;CACNA1A,downstream_gene_variant,,ENST00000635988,;CACNA1A,downstream_gene_variant,,ENST00000636074,;CACNA1A,downstream_gene_variant,,ENST00000636610,;CACNA1A,downstream_gene_variant,,ENST00000636768,;CACNA1A,downstream_gene_variant,,ENST00000638114,;,regulatory_region_variant,,ENSR00000107393,; - ENSG00000141837 ENST00000638029 Transcript inframe_deletion 6910-6912/7814 6674-6676/7539 2225-2226/2512 HP/P cATCcc/ccc rs749638821,COSM1390731,COSM1390730,COSM1390729,COSM1390728 1 -1 CACNA1A HGNC HGNC:1388 protein_coding YES CCDS82300.1 ENSP00000489829 A0A087WW63 UPI000152B4F1 NM_023035.2 47/48 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59 likely_benign 0,1,1,1,1 MODERATE 1 deletion 5 0,1,1,1,1 1 PASS GGGATG . . 0.002275 0.0009384 0.001239 0.001401 0.0008597 0.006413 0.002884 0.002846 0.002253 13208877 ZNF43 . GRCh38 chr19 21808136 21808136 + Missense_Mutation SNP A A G rs1396871874 7316-148 BS_DTYN7DX6 A A c.1928T>C p.Phe643Ser p.F643S ENST00000357491 4/4 103 85 9 43 42 0 ZNF43,missense_variant,p.Phe628Ser,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Phe643Ser,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Phe628Ser,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Phe628Ser,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Phe634Ser,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; G ENSG00000198521 ENST00000357491 Transcript missense_variant 2062/5249 1928/2457 643/818 F/S tTc/tCc rs1396871874 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(0.65) benign(0.009) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 2 PASS GAA . . 21808136 MYT1 . GRCh38 chr20 64208018 64208018 + Missense_Mutation SNP T T G rs749248410 7316-148 BS_DTYN7DX6 T T c.822T>G p.Asp274Glu p.D274E ENST00000328439 7/23 77 60 11 29 28 1 MYT1,missense_variant,p.Asp274Glu,ENST00000536311,;MYT1,missense_variant,p.Asp274Glu,ENST00000328439,NM_004535.2;MYT1,intron_variant,,ENST00000360149,;MYT1,intron_variant,,ENST00000622439,; G ENSG00000196132 ENST00000328439 Transcript missense_variant 1186/5535 822/3366 274/1121 D/E gaT/gaG rs749248410,COSM4294491,COSM4294490 1 1 MYT1 HGNC HGNC:7622 protein_coding YES CCDS13558.1 ENSP00000327465 Q01538 UPI000012FBFA NM_004535.2 tolerated(0.87) benign(0) 7/23 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10816:SF10,hmmpanther:PTHR10816,Gene3D:3.40.50.300 0,1,1 MODERATE 1 SNV 1 0,1,1 1 PASS ATG . . 8.807e-05 0.0002057 0.0004195 3.279e-05 0.0001192 64208018 APP . GRCh38 chr21 26021866 26021868 + In_Frame_Del DEL GTG GTG - rs764406483 7316-148 BS_DTYN7DX6 GTG GTG c.837_839del p.Thr280del p.T280del ENST00000346798 6/18 81 68 5 50 43 0 APP,inframe_deletion,p.Thr280del,ENST00000357903,NM_201413.2,NM_001204302.1;APP,inframe_deletion,p.Thr280del,ENST00000346798,NM_000484.3;APP,inframe_deletion,p.Thr280del,ENST00000348990,NM_001204303.1,NM_201414.2;APP,inframe_deletion,p.Thr245del,ENST00000359726,NM_001136131.2;APP,inframe_deletion,p.Thr224del,ENST00000354192,NM_001136129.2;APP,inframe_deletion,p.Thr275del,ENST00000440126,NM_001136016.3;APP,inframe_deletion,p.Thr224del,ENST00000439274,NM_001136130.2;APP,inframe_deletion,p.Thr280del,ENST00000358918,NM_001204301.1;APP,inframe_deletion,p.Thr202del,ENST00000448850,;APP,inframe_deletion,p.Thr71del,ENST00000415997,;APP,non_coding_transcript_exon_variant,,ENST00000474136,;APP,non_coding_transcript_exon_variant,,ENST00000491395,;APP,downstream_gene_variant,,ENST00000463070,; - ENSG00000142192 ENST00000346798 Transcript inframe_deletion 871-873/3467 837-839/2313 279-280/770 TT/T acCACa/aca rs764406483,TMP_ESP_21_27394182_27394187,COSM5801222 1 -1 APP HGNC HGNC:620 protein_coding YES CCDS13576.1 ENSP00000284981 P05067 A0A140VJC8 UPI000002DB1C NM_000484.3 6/18 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:4.10.410.10,hmmpanther:PTHR23103:SF7,hmmpanther:PTHR23103 0.006801 0.01006 0,0,1 MODERATE 1 deletion 1 0,0,1 1 PASS CTGTGG . . 0.0001735 0.0002672 3.055e-05 0.0001185 0.0008192 0.0001413 6.686e-05 26021865 TRIOBP . GRCh38 chr22 37723794 37723794 + Missense_Mutation SNP A A G rs71317064 7316-148 BS_DTYN7DX6 A A c.1238A>G p.Lys413Arg p.K413R ENST00000406386 7/24 75 63 10 30 29 0 TRIOBP,missense_variant,p.Lys413Arg,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Lys413Arg,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; G ENSG00000100106 ENST00000406386 Transcript missense_variant 1509/10145 1238/7098 413/2365 K/R aAa/aGa rs71317064,COSM230417 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 tolerated_low_confidence(1) benign(0) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 1 PASS AAA . . 5.702e-05 5.809e-05 4.484e-05 8.061e-05 0.0001842 6.555e-05 37723794 MRPL30 . GRCh38 chr2 99195109 99195109 + Splice_Region SNP T T C rs771035149 7316-495 BS_HGPJ76NM T T c.280-7T>C ENST00000338148 71 61 9 41 41 0 MRPL30,splice_region_variant,,ENST00000338148,NM_145212.3;AC092587.1,splice_region_variant,,ENST00000410042,;MRPL30,downstream_gene_variant,,ENST00000409145,;MRPL30,splice_region_variant,,ENST00000465432,;MRPL30,splice_region_variant,,ENST00000473743,;MRPL30,splice_region_variant,,ENST00000409841,;AC079447.1,splice_region_variant,,ENST00000424491,; C ENSG00000185414 ENST00000338148 Transcript splice_region_variant,intron_variant rs771035149 1 1 MRPL30 HGNC HGNC:14036 protein_coding YES CCDS2041.1 ENSP00000338057 Q8TCC3 UPI000007110A NM_145212.3 4/5 LOW 1 SNV 1 PASS GTT . . 4.65e-06 4.161e-05 99195109 PHOX2B . GRCh38 chr4 41747413 41747418 + In_Frame_Del DEL TAGTGA TAGTGA - novel 7316-495 BS_HGPJ76NM TAGTGA TAGTGA c.360_365del p.His121_Tyr122del p.H121_Y122del ENST00000226382 2/3 61 53 5 25 24 0 PHOX2B,inframe_deletion,p.His121_Tyr122del,ENST00000226382,NM_003924.3;AC105389.1,upstream_gene_variant,,ENST00000510602,;AC105389.3,upstream_gene_variant,,ENST00000508038,;PHOX2B,non_coding_transcript_exon_variant,,ENST00000510424,;,regulatory_region_variant,,ENSR00000167915,; - ENSG00000109132 ENST00000226382 Transcript inframe_deletion 720-725/3030 360-365/945 120-122/314 THY/T acTCACTAc/acc 1 -1 PHOX2B HGNC HGNC:9143 protein_coding YES CCDS3463.1 ENSP00000226382 Q99453 UPI000000D936 NM_003924.3 2/3 PROSITE_profiles:PS50071,cd00086,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF301,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689 MODERATE 1 deletion 1 1 PASS GGTAGTGAG . . 41747412 YTHDC2 . GRCh38 chr5 113566021 113566021 + Splice_Site SNP T T C novel 7316-495 BS_HGPJ76NM T T c.2842+2T>C p.X948_splice ENST00000161863 71 57 12 45 45 0 YTHDC2,splice_donor_variant,,ENST00000161863,NM_022828.3;YTHDC2,splice_donor_variant,,ENST00000506333,;YTHDC2,downstream_gene_variant,,ENST00000503857,; C ENSG00000047188 ENST00000161863 Transcript splice_donor_variant 1 1 YTHDC2 HGNC HGNC:24721 protein_coding YES CCDS4113.1 ENSP00000161863 Q9H6S0 UPI0000367311 NM_022828.3 21/29 HIGH 1 SNV 1 PASS GTA . . 113566021 MUCL3 . GRCh38 chr6 30951148 30951148 + Missense_Mutation SNP T T C rs1351236833 7316-495 BS_HGPJ76NM T T c.2684T>C p.Leu895Pro p.L895P ENST00000462446 2/3 79 55 17 42 38 2 MUCL3,missense_variant,p.Leu962Pro,ENST00000636043,;MUCL3,missense_variant,p.Leu895Pro,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,; C ENSG00000168631 ENST00000462446 Transcript missense_variant 2712/5314 2684/4182 895/1393 L/P cTa/cCa rs1351236833 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.31) benign(0.031) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS CTA . . 30951148 MUC17 . GRCh38 chr7 101039660 101039660 + Missense_Mutation SNP T T A rs146949220 7316-495 BS_HGPJ76NM T T c.8244T>A p.Asp2748Glu p.D2748E ENST00000306151 3/13 85 70 8 46 42 0 MUC17,missense_variant,p.Asp2748Glu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asp2748Glu,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 8308/14247 8244/13482 2748/4493 D/E gaT/gaA rs146949220,COSM6193551 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.006) 3/13 hmmpanther:PTHR37999,mobidb-lite 0.0006809 0.0001163 0,1 MODERATE 1 SNV 1 0,1 PASS ATG . . 0.0002024 0.000229 0.0007482 0.0001725 0.0006287 101039660 SVIL . GRCh38 chr10 29490918 29490918 + Missense_Mutation SNP A A C rs199726033 7316-495 BS_HGPJ76NM A A c.4121T>G p.Leu1374Arg p.L1374R ENST00000355867 22/38 68 58 9 44 44 0 SVIL,missense_variant,p.Leu1342Arg,ENST00000375398,;SVIL,missense_variant,p.Leu1374Arg,ENST00000355867,NM_001323599.1,NM_021738.2;SVIL,missense_variant,p.Leu948Arg,ENST00000375400,NM_001323600.1,NM_003174.3;SVIL,missense_variant,p.Leu300Arg,ENST00000632315,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL-AS1,downstream_gene_variant,,ENST00000413405,;SVIL,upstream_gene_variant,,ENST00000482607,;SVIL,downstream_gene_variant,,ENST00000491872,; C ENSG00000197321 ENST00000355867 Transcript missense_variant 4874/7586 4121/6645 1374/2214 L/R cTc/cGc rs199726033,COSM146919 1 -1 SVIL HGNC HGNC:11480 protein_coding YES CCDS7164.1 ENSP00000348128 O95425 UPI0000366678 NM_001323599.1,NM_021738.2 deleterious(0) possibly_damaging(0.506) 22/38 hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF45 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.1071 0.01054 0.06654 0.2243 0.01734 0.1831 0.1105 0.1149 0.1928 29490918 WDR66 . GRCh38 chr12 121921350 121921350 + Missense_Mutation SNP T T A novel 7316-495 BS_HGPJ76NM T T c.45T>A p.Asn15Lys p.N15K ENST00000288912 2/22 82 70 9 33 33 0 WDR66,missense_variant,p.Asn15Lys,ENST00000288912,NM_144668.5;WDR66,missense_variant,p.Asn15Lys,ENST00000397454,NM_001178003.1;PSMD9,downstream_gene_variant,,ENST00000261817,;PSMD9,downstream_gene_variant,,ENST00000541212,NM_002813.6;PSMD9,downstream_gene_variant,,ENST00000542602,NM_001261400.2;AC069503.2,3_prime_UTR_variant,,ENST00000546333,;AC069503.2,non_coding_transcript_exon_variant,,ENST00000544911,;PSMD9,downstream_gene_variant,,ENST00000361485,;PSMD9,downstream_gene_variant,,ENST00000535293,;PSMD9,downstream_gene_variant,,ENST00000537407,;WDR66,upstream_gene_variant,,ENST00000540779,;PSMD9,downstream_gene_variant,,ENST00000540962,;PSMD9,downstream_gene_variant,,ENST00000543699,;PSMD9,downstream_gene_variant,,ENST00000544254,;PSMD9,downstream_gene_variant,,ENST00000544724,; A ENSG00000158023 ENST00000288912 Transcript missense_variant 899/4467 45/3450 15/1149 N/K aaT/aaA 1 1 WDR66 HGNC HGNC:28506 protein_coding YES CCDS41853.1 ENSP00000288912 Q8TBY9 UPI00001AEB2C NM_144668.5 deleterious_low_confidence(0.05) benign(0) 2/22 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATG . . 121921350 AHNAK2 . GRCh38 chr14 104952976 104952976 + Missense_Mutation SNP C C G rs201734490 7316-495 BS_HGPJ76NM C C c.2475G>C p.Glu825Asp p.E825D ENST00000333244 7/7 93 74 9 33 33 0 AHNAK2,missense_variant,p.Glu825Asp,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 2595/18254 2475/17388 825/5795 E/D gaG/gaC rs201734490,COSM5772089 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.79) benign(0.003) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 0,1 MODERATE 1 SNV 5 0,1 PASS CCT . . 8.509e-06 6.255e-05 3.488e-05 104952976 MED16 . GRCh38 chr19 875275 875279 + Frame_Shift_Del DEL CAGCC CAGCC - rs1428907591 7316-495 BS_HGPJ76NM CAGCC CAGCC c.1736_1740del p.Arg579HisfsTer13 p.R579Hfs*13 ENST00000325464 10/16 64 55 6 32 31 0 MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000395808,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000312090,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000325464,NM_005481.2;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000589119,;MED16,frameshift_variant,p.Arg333HisfsTer13,ENST00000607471,;MED16,frameshift_variant,p.Arg510HisfsTer13,ENST00000592943,;MED16,frameshift_variant,p.Arg435HisfsTer13,ENST00000586017,;MED16,frameshift_variant,p.Arg167HisfsTer13,ENST00000606828,;MED16,intron_variant,,ENST00000269814,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,upstream_gene_variant,,ENST00000621073,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000606248,;,regulatory_region_variant,,ENSR00000105561,; - ENSG00000175221 ENST00000325464 Transcript frameshift_variant 1887-1891/2922 1736-1740/2634 579-580/877 RL/X cGGCTG/c rs1428907591,COSM1724576 1 -1 MED16 HGNC HGNC:17556 protein_coding YES CCDS12047.1 ENSP00000325612 Q9Y2X0 UPI0000141671 NM_005481.2 10/16 Pfam_domain:PF11635,hmmpanther:PTHR13224 0,1 HIGH 1 deletion 5 0,1 PASS GTCAGCCG . . 0.00176 0.003278 0.002615 0.00159 0.002705 0.0001441 0.001357 0.002191 0.002236 875274 LILRB3 . GRCh38 chr19 54221170 54221170 + Missense_Mutation SNP A A G novel 7316-495 BS_HGPJ76NM A A c.868T>C p.Tyr290His p.Y290H ENST00000245620 5/13 53 43 7 27 27 0 LILRB3,missense_variant,p.Tyr290His,ENST00000391750,NM_001320960.1,NM_006864.3;LILRB3,missense_variant,p.Tyr290His,ENST00000346401,;LILRB3,missense_variant,p.Tyr290His,ENST00000245620,NM_001081450.2;LILRB3,downstream_gene_variant,,ENST00000445347,;AC245052.7,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000436504,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,downstream_gene_variant,,ENST00000468668,;,regulatory_region_variant,,ENSR00000111471,; G ENSG00000204577 ENST00000245620 Transcript missense_variant 870/2066 868/1899 290/632 Y/H Tac/Cac 1 -1 LILRB3 HGNC HGNC:6607 protein_coding YES CCDS46175.1 ENSP00000245620 O75022 UPI00034F2393 NM_001081450.2 tolerated(1) benign(0) 5/13 Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS TAG . . 54221170 FAM182B . GRCh38 chr20 25775100 25775100 + Missense_Mutation SNP T T C rs373099602 7316-495 BS_HGPJ76NM T T c.220A>G p.Thr74Ala p.T74A ENST00000376403 3/3 71 53 10 32 31 0 FAM182B,missense_variant,p.Thr74Ala,ENST00000376403,;FAM182B,missense_variant,p.Thr82Ala,ENST00000584071,;FAM182B,missense_variant,p.Thr73Ala,ENST00000376404,;FAM182B,intron_variant,,ENST00000453481,;FAM182B,intron_variant,,ENST00000478164,;FAM182B,intron_variant,,ENST00000485279,;FAM182B,downstream_gene_variant,,ENST00000582267,;FAM182B,downstream_gene_variant,,ENST00000584356,; C ENSG00000175170 ENST00000376403 Transcript missense_variant 599/1681 220/459 74/152 T/A Aca/Gca rs373099602,COSM4134355,COSM4134354 1 -1 FAM182B HGNC HGNC:34503 protein_coding YES ENSP00000365585 Q5T319 UPI000047001E tolerated_low_confidence(1) benign(0) 3/3 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GTA . . 2.029e-05 0.0001956 1.805e-05 25775100 ABCG8 . GRCh38 chr2 43877819 43877819 + Missense_Mutation SNP T T C 7316-2193 BS_KRYAZ09R T T c.1928T>C p.Ile643Thr p.I643T ENST00000645013 13/13 54 49 5 36 36 0 ABCG8,missense_variant,p.Ile643Thr,ENST00000645013,;ABCG8,missense_variant,p.Ile643Thr,ENST00000272286,NM_022437.2;ABCG8,downstream_gene_variant,,ENST00000644611,;,regulatory_region_variant,,ENSR00000116245,;,regulatory_region_variant,,ENSR00000290691,; C ENSG00000143921 ENST00000645013 Transcript missense_variant 2018/7186 1928/2022 643/673 I/T aTc/aCc COSM477430 1 1 ABCG8 HGNC HGNC:13887 protein_coding YES CCDS1815.1 ENSP00000496450 UPI000004C4CD tolerated(0.4) benign(0.114) 13/13 Transmembrane_helices:TMhelix,hmmpanther:PTHR19241:SF239,hmmpanther:PTHR19241 1 MODERATE 1 SNV 1 1 PASS ATC . . 43877819 RNF123 . GRCh38 chr3 49715957 49715957 + Missense_Mutation SNP T T C rs769382738 7316-2193 BS_KRYAZ09R T T c.3286T>C p.Phe1096Leu p.F1096L ENST00000327697 33/39 70 64 6 36 35 0 RNF123,missense_variant,p.Phe1096Leu,ENST00000327697,NM_022064.4;RNF123,missense_variant,p.Phe208Leu,ENST00000433785,;GMPPB,downstream_gene_variant,,ENST00000308375,NM_013334.3;AMIGO3,downstream_gene_variant,,ENST00000320431,NM_198722.2;RNF123,downstream_gene_variant,,ENST00000432042,;GMPPB,downstream_gene_variant,,ENST00000480687,;RNF123,upstream_gene_variant,,ENST00000497099,;RNF123,3_prime_UTR_variant,,ENST00000457726,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,non_coding_transcript_exon_variant,,ENST00000469978,;RNF123,downstream_gene_variant,,ENST00000444689,;RNF123,upstream_gene_variant,,ENST00000498376,; C ENSG00000164068 ENST00000327697 Transcript missense_variant 3430/4311 3286/3945 1096/1314 F/L Ttc/Ctc rs769382738 1 1 RNF123 HGNC HGNC:21148 protein_coding YES CCDS33758.1 ENSP00000328287 Q5XPI4 UPI00001D6A07 NM_022064.4 tolerated(0.19) benign(0.01) 33/39 Gene3D:1.25.10.10,hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1 MODERATE 1 SNV 1 PASS ATT . . 0.0001871 2.979e-05 3.591e-05 0.001332 49715957 MUC4 . GRCh38 chr3 195782770 195782770 + Missense_Mutation SNP A A G rs879646128 7316-2193 BS_KRYAZ09R A A c.8810T>C p.Val2937Ala p.V2937A ENST00000463781 2/25 50 38 8 24 23 0 MUC4,missense_variant,p.Val2937Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Val2937Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Val2937Ala,ENST00000478156,;MUC4,missense_variant,p.Val2937Ala,ENST00000466475,;MUC4,missense_variant,p.Val2937Ala,ENST00000477756,;MUC4,missense_variant,p.Val2937Ala,ENST00000477086,;MUC4,missense_variant,p.Val2937Ala,ENST00000480843,;MUC4,missense_variant,p.Val2937Ala,ENST00000462323,;MUC4,missense_variant,p.Val2937Ala,ENST00000470451,;MUC4,missense_variant,p.Val2937Ala,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; G ENSG00000145113 ENST00000463781 Transcript missense_variant 9270/17110 8810/16239 2937/5412 V/A gTa/gCa rs879646128,COSM4157670 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.52) benign(0.159) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TAC . . 0.0002396 0.004287 0.0001313 0.0001412 0.0004252 0.0001891 0.0001123 195782770 CNTNAP3B . GRCh38 chr9 41997755 41997756 + Splice_Region INS - - A rs1282826577 7316-2193 BS_KRYAZ09R - - c.743-4dup ENST00000377561 53 43 6 46 43 0 CNTNAP3B,splice_region_variant,,ENST00000276974,;CNTNAP3B,splice_region_variant,,ENST00000341990,;CNTNAP3B,splice_region_variant,,ENST00000377561,NM_001201380.2;CNTNAP3B,splice_region_variant,,ENST00000612828,;CNTNAP3B,splice_region_variant,,ENST00000617422,;CNTNAP3B,splice_region_variant,,ENST00000479351,;CNTNAP3B,splice_region_variant,,ENST00000618777,;CNTNAP3B,splice_region_variant,,ENST00000619138,; A ENSG00000154529 ENST00000377561 Transcript splice_region_variant,intron_variant rs1282826577 1 -1 CNTNAP3B HGNC HGNC:32035 protein_coding YES CCDS75836.1 ENSP00000478671 Q96NU0 UPI00043788D3 NM_001201380.2 5/23 LOW 1 insertion 1 PASS TTA . . 41997755 TRIM64B . GRCh38 chr11 89875641 89875641 + Frame_Shift_Del DEL C C - rs756697949 7316-2193 BS_KRYAZ09R C C c.377del p.Ser126ThrfsTer3 p.S126Tfs*3 ENST00000329862 1/6 47 35 10 34 32 1 TRIM64B,frameshift_variant,p.Ser126ThrfsTer3,ENST00000329862,NM_001164397.1; - ENSG00000189253 ENST00000329862 Transcript frameshift_variant 377/2689 377/1350 126/449 S/X aGc/ac rs756697949,COSM4589992 1 -1 TRIM64B HGNC HGNC:37147 protein_coding YES CCDS53693.1 ENSP00000332969 A6NI03 UPI0001662600 NM_001164397.1 1/6 cd00021,Gene3D:3.30.40.10,SMART_domains:SM00336,Superfamily_domains:SSF57845,PROSITE_profiles:PS50119,hmmpanther:PTHR44030,hmmpanther:PTHR44030:SF9 0,1 HIGH 1 deletion 1 0,1 PASS GGCT . . 0.0001888 0.0009554 0.000257 0.0003277 8.388e-05 0.0009085 9.996e-05 89875640 RPL10 . GRCh38 chrX 154400837 154400837 + Missense_Mutation SNP C C T rs979369776 7316-2193 BS_KRYAZ09R C C c.628C>T p.Arg210Trp p.R210W ENST00000424325 7/7 37 31 6 14 13 0 RPL10,missense_variant,p.Arg210Trp,ENST00000424325,NM_001303625.1,NM_006013.4;RPL10,missense_variant,p.Arg210Trp,ENST00000344746,NM_001303626.1,NM_001303624.1;RPL10,missense_variant,p.Arg174Trp,ENST00000618723,NM_001256580.2;RPL10,missense_variant,p.Arg210Trp,ENST00000369817,;RPL10,missense_variant,p.Arg159Trp,ENST00000406022,;RPL10,synonymous_variant,p.Gly155=,ENST00000458500,NM_001256577.2;RPL10,intron_variant,,ENST00000427682,;RPL10,intron_variant,,ENST00000428169,;RPL10,intron_variant,,ENST00000449494,;RPL10,intron_variant,,ENST00000451365,;DNASE1L1,downstream_gene_variant,,ENST00000014935,;DNASE1L1,downstream_gene_variant,,ENST00000309585,NM_001009933.2;DNASE1L1,downstream_gene_variant,,ENST00000369807,NM_001303620.1;DNASE1L1,downstream_gene_variant,,ENST00000369808,NM_006730.3;DNASE1L1,downstream_gene_variant,,ENST00000369809,NM_001009932.2;DNASE1L1,downstream_gene_variant,,ENST00000393638,NM_001009934.2;DNASE1L1,downstream_gene_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000424626,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000436473,;DNASE1L1,downstream_gene_variant,,ENST00000447892,;DNASE1L1,downstream_gene_variant,,ENST00000451865,;SNORA70,downstream_gene_variant,,ENST00000384436,;AC245140.2,upstream_gene_variant,,ENST00000624054,;RPL10,downstream_gene_variant,,ENST00000479366,;RPL10,non_coding_transcript_exon_variant,,ENST00000482732,;RPL10,non_coding_transcript_exon_variant,,ENST00000492572,;RPL10,non_coding_transcript_exon_variant,,ENST00000489200,;RPL10,non_coding_transcript_exon_variant,,ENST00000491035,;RPL10,non_coding_transcript_exon_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000485196,;DNASE1L1,downstream_gene_variant,,ENST00000497242,; T ENSG00000147403 ENST00000424325 Transcript missense_variant 816/2318 628/645 210/214 R/W Cgg/Tgg rs979369776,COSM5793483 1 1 RPL10 HGNC HGNC:10298 protein_coding YES CCDS14746.1 ENSP00000413436 P27635 X5D2T3 UPI0000144CE2 NM_001303625.1,NM_006013.4 tolerated(0.31) benign(0) 7/7 hmmpanther:PTHR11726,hmmpanther:PTHR11726:SF11 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 154400837 MT-ND5 . GRCh38 chrM 13708 13708 + Missense_Mutation SNP G G A rs28359178 7316-2193 BS_KRYAZ09R G G c.1372G>A p.Ala458Thr p.A458T ENST00000361567 1/1 17622 13813 3481 2621 2567 0 MT-ND5,missense_variant,p.Ala458Thr,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339371,;,TF_binding_site_variant,,PB0020.1,; A ENSG00000198786 ENST00000361567 Transcript missense_variant 1372/1812 1372/1812 458/603 A/T Gca/Aca rs28359178 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D tolerated_low_confidence(0.19) benign(0) 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF06455,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974,Transmembrane_helices:TMhelix 19387457,1732158,1900003,7635294,20301353,1417830,1764087,25925750 MODERATE 1 SNV 1 1 PASS GGC . . 13708 AL031985.4 . GRCh38 chr1 40436444 40436447 + Splice_Region DEL GAGT GAGT - rs1176788058 7316-3556 BS_TKRHXGZQ GAGT GAGT n.425_428del ENST00000642138 5/5 80 62 16 25 20 0 AL031985.4,splice_region_variant,,ENST00000642138,; - ENSG00000284677 ENST00000642138 Transcript splice_region_variant,non_coding_transcript_exon_variant 425-428/673 rs1176788058 1 -1 AL031985.4 Clone_based_ensembl_gene lincRNA YES 5/5 LOW 1 deletion PASS GGGAGTT . . 40436443 AL031985.4 . GRCh38 chr1 40436449 40436450 + Splice_Site INS - - GCCGTATCAT novel 7316-3556 BS_TKRHXGZQ - - n.424-2_424-1insATGATACGGC ENST00000642138 76 58 16 24 19 0 AL031985.4,splice_acceptor_variant,,ENST00000642138,; GCCGTATCAT ENSG00000284677 ENST00000642138 Transcript splice_acceptor_variant,non_coding_transcript_variant 1 -1 AL031985.4 Clone_based_ensembl_gene lincRNA YES 4/4 HIGH 1 insertion PASS TCT . . 40436449 AL031985.4 . GRCh38 chr1 40436456 40436461 + Splice_Region DEL GGAGGT GGAGGT - novel 7316-3556 BS_TKRHXGZQ GGAGGT GGAGGT n.424-13_424-8del ENST00000642138 77 59 16 24 19 0 AL031985.4,splice_region_variant,,ENST00000642138,; - ENSG00000284677 ENST00000642138 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 AL031985.4 Clone_based_ensembl_gene lincRNA YES 4/4 LOW 1 deletion PASS AAGGAGGTT . . 40436455 GLMN . GRCh38 chr1 92297534 92297534 + Splice_Region SNP C C A rs1305291638 7316-3556 BS_TKRHXGZQ C C c.40-5G>T ENST00000370360 63 43 11 31 31 0 GLMN,splice_region_variant,,ENST00000370360,NM_001319683.1,NM_053274.2;RPAP2,upstream_gene_variant,,ENST00000610020,NM_024813.2;RPAP2,upstream_gene_variant,,ENST00000484158,;GLMN,splice_region_variant,,ENST00000495106,;GLMN,non_coding_transcript_exon_variant,,ENST00000487911,; A ENSG00000174842 ENST00000370360 Transcript splice_region_variant,intron_variant rs1305291638 1 -1 GLMN HGNC HGNC:14373 protein_coding YES CCDS738.1 ENSP00000359385 Q92990 UPI0000040A53 NM_001319683.1,NM_053274.2 2/18 LOW 1 SNV 1 1 PASS GCA . . 0.01921 0.01063 0.03347 0.02013 0.03261 0.02599 0.01504 0.02414 0.01185 92297534 GNAI2 . GRCh38 chr3 50257560 50257561 + Frame_Shift_Ins INS - - TGATACG novel 7316-3556 BS_TKRHXGZQ - - c.938_939insTGATACG p.Lys313AsnfsTer28 p.K313Nfs*28 ENST00000313601 8/9 89 71 11 26 24 0 GNAI2,frameshift_variant,p.Lys313AsnfsTer28,ENST00000313601,NM_002070.3;GNAI2,frameshift_variant,p.Lys297AsnfsTer28,ENST00000422163,NM_001282619.1,NM_001282620.1;GNAI2,frameshift_variant,p.Lys261AsnfsTer28,ENST00000266027,NM_001282618.1,NM_001282617.1;GNAI2,frameshift_variant,p.Lys261AsnfsTer28,ENST00000440628,;GNAI2,frameshift_variant,p.Lys276AsnfsTer28,ENST00000451956,NM_001166425.1;U73166.1,upstream_gene_variant,,ENST00000426302,;U73166.1,upstream_gene_variant,,ENST00000439898,;U73166.1,upstream_gene_variant,,ENST00000453717,;GNAI2,non_coding_transcript_exon_variant,,ENST00000491100,;GNAI2,3_prime_UTR_variant,,ENST00000441156,;GNAI2,3_prime_UTR_variant,,ENST00000446079,;GNAI2,non_coding_transcript_exon_variant,,ENST00000490122,;GNAI2,non_coding_transcript_exon_variant,,ENST00000492383,;GNAI2,downstream_gene_variant,,ENST00000468422,; TGATACG ENSG00000114353 ENST00000313601 Transcript frameshift_variant 1322-1323/2464 938-939/1068 313/355 K/NDTX aag/aaTGATACGg 1 1 GNAI2 HGNC HGNC:4385 protein_coding YES CCDS2813.1 ENSP00000312999 P04899 UPI000000124B NM_002070.3 8/9 cd00066,hmmpanther:PTHR10218:SF73,hmmpanther:PTHR10218,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540 HIGH 1 insertion 1 1 PASS AAG . . 50257560 GNAI2 . GRCh38 chr3 50257564 50257570 + Frame_Shift_Del DEL CAAAGAC CAAAGAC - rs1332272879 7316-3556 BS_TKRHXGZQ CAAAGAC CAAAGAC c.942_948del p.Lys315ProfsTer33 p.K315Pfs*33 ENST00000313601 8/9 87 71 11 26 24 0 GNAI2,frameshift_variant,p.Lys315ProfsTer33,ENST00000313601,NM_002070.3;GNAI2,frameshift_variant,p.Lys299ProfsTer33,ENST00000422163,NM_001282619.1,NM_001282620.1;GNAI2,frameshift_variant,p.Lys263ProfsTer33,ENST00000266027,NM_001282618.1,NM_001282617.1;GNAI2,frameshift_variant,p.Lys263ProfsTer33,ENST00000440628,;GNAI2,frameshift_variant,p.Lys278ProfsTer33,ENST00000451956,NM_001166425.1;U73166.1,upstream_gene_variant,,ENST00000426302,;U73166.1,upstream_gene_variant,,ENST00000439898,;U73166.1,upstream_gene_variant,,ENST00000453717,;GNAI2,non_coding_transcript_exon_variant,,ENST00000491100,;GNAI2,3_prime_UTR_variant,,ENST00000441156,;GNAI2,3_prime_UTR_variant,,ENST00000446079,;GNAI2,non_coding_transcript_exon_variant,,ENST00000490122,;GNAI2,non_coding_transcript_exon_variant,,ENST00000492383,;GNAI2,downstream_gene_variant,,ENST00000468422,; - ENSG00000114353 ENST00000313601 Transcript frameshift_variant 1326-1332/2464 942-948/1068 314-316/355 RKD/X cgCAAAGAC/cg rs1332272879 1 1 GNAI2 HGNC HGNC:4385 protein_coding YES CCDS2813.1 ENSP00000312999 P04899 UPI000000124B NM_002070.3 8/9 cd00066,hmmpanther:PTHR10218:SF73,hmmpanther:PTHR10218,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540 HIGH 1 deletion 1 1 PASS CGCAAAGACA . . 8.935e-06 3.421e-05 7.089e-05 50257563 FBXW7 . GRCh38 chr4 152347073 152347073 + Splice_Site SNP T T A rs1319900991 7316-3556 BS_TKRHXGZQ T T c.585-2A>T p.X195_splice ENST00000603548 79 60 9 21 20 0 FBXW7,splice_acceptor_variant,,ENST00000263981,NM_018315.4;FBXW7,splice_acceptor_variant,,ENST00000281708,NM_001349798.1;FBXW7,splice_acceptor_variant,,ENST00000296555,NM_001013415.1;FBXW7,splice_acceptor_variant,,ENST00000393956,;FBXW7,splice_acceptor_variant,,ENST00000603548,NM_033632.3;FBXW7,splice_acceptor_variant,,ENST00000603841,;FBXW7,splice_acceptor_variant,,ENST00000647183,;FBXW7,splice_acceptor_variant,,ENST00000604822,; A ENSG00000109670 ENST00000603548 Transcript splice_acceptor_variant rs1319900991 1 -1 FBXW7 HGNC HGNC:16712 protein_coding YES CCDS3777.1 ENSP00000474725 Q969H0 UPI000007007E NM_033632.3 3/11 HIGH 1 SNV 1 1 PASS CTA . . 0.0001926 0.000486 0.0005435 0.0004158 0.0001074 0.0001802 152347073 HLA-A . GRCh38 chr6 29944252 29944252 + Frame_Shift_Del DEL G G - rs60304108 7316-3556 BS_TKRHXGZQ G G c.751del p.Asp251ThrfsTer46 p.D251Tfs*46 ENST00000396634 6/10 40 32 5 10 10 0 HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000396634,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376806,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376809,NM_002116.7;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000376802,;HLA-A,frameshift_variant,p.Asp251ThrfsTer46,ENST00000638375,;HLA-A,non_coding_transcript_exon_variant,,ENST00000496081,;HLA-A,non_coding_transcript_exon_variant,,ENST00000495183,;HLA-A,non_coding_transcript_exon_variant,,ENST00000461903,;HLA-A,non_coding_transcript_exon_variant,,ENST00000479320,;AL671277.1,upstream_gene_variant,,ENST00000429656,; - ENSG00000206503 ENST00000396634 Transcript frameshift_variant 1091/1868 750/1098 250/365 Q/X caG/ca rs60304108,COSM5887934,COSM5887933,COSM5000719,COSM451152 1 1 HLA-A HGNC HGNC:4931 protein_coding YES CCDS34373.1 ENSP00000379873 P16188,P13746,P04439 B1PKY1 UPI000008AB1D 6/10 PDB-ENSP_mappings:2xpg.A,PDB-ENSP_mappings:3rl1.A,PDB-ENSP_mappings:3rl2.A,PDB-ENSP_mappings:6eny.F,cd07698,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726,PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF229,hmmpanther:PTHR16675 0.4153 0.402 0.2857 0.3757 0.3701 0.3666 0.3685 0,1,1,1,1 HIGH 1 deletion 1 0,1,1,1,1 1 PASS CAGG . . 0.3577 0.3496 0.3496 0.3912 0.2297 0.3699 0.3914 0.3314 0.2963 29944251 MUT . GRCh38 chr6 49456243 49456244 + Splice_Region INS - - A rs768059007 7316-3556 BS_TKRHXGZQ - - c.754-7dup ENST00000274813 66 47 11 34 33 0 MUT,splice_region_variant,,ENST00000274813,NM_000255.3; A ENSG00000146085 ENST00000274813 Transcript splice_region_variant,intron_variant rs768059007,TMP_ESP_6_49423957_49423957 1 -1 MUT HGNC HGNC:7526 protein_coding YES CCDS4924.1 ENSP00000274813 P22033 A0A024RD82 UPI000013DA28 NM_000255.3 3/12 0.01433 0.01359 LOW 1 insertion 1 1 PASS ATA . . 0.03004 0.02146 0.05089 0.03452 0.03062 0.01911 0.02592 0.03218 0.03941 49456243 SCIN . GRCh38 chr7 12625078 12625078 + Missense_Mutation SNP G G T novel 7316-3556 BS_TKRHXGZQ G G c.828G>T p.Met276Ile p.M276I ENST00000297029 6/16 69 57 12 30 30 0 SCIN,missense_variant,p.Met276Ile,ENST00000297029,NM_001112706.2;SCIN,missense_variant,p.Met29Ile,ENST00000519209,NM_033128.3;SCIN,downstream_gene_variant,,ENST00000518849,;SCIN,downstream_gene_variant,,ENST00000523729,;SCIN,non_coding_transcript_exon_variant,,ENST00000473722,;SCIN,downstream_gene_variant,,ENST00000486980,;SCIN,missense_variant,p.Met276Ile,ENST00000341757,;SCIN,non_coding_transcript_exon_variant,,ENST00000476649,; T ENSG00000006747 ENST00000297029 Transcript missense_variant 929/9713 828/2148 276/715 M/I atG/atT 1 1 SCIN HGNC HGNC:21695 protein_coding YES CCDS47545.1 ENSP00000297029 Q9Y6U3 UPI000013C4DF NM_001112706.2 deleterious(0.04) benign(0.081) 6/16 Gene3D:3.40.20.10,Pfam_domain:PF00626,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF78,SMART_domains:SM00262,Superfamily_domains:SSF82754,cd11292 MODERATE 1 SNV 1 PASS TGC . . 12625078 TNS3 . GRCh38 chr7 47506947 47506947 + Splice_Region DEL G G - rs371560985 7316-3556 BS_TKRHXGZQ G G c.-152-3del ENST00000311160 66 57 7 22 20 0 TNS3,splice_region_variant,,ENST00000311160,NM_022748.11;TNS3,splice_region_variant,,ENST00000434451,;TNS3,splice_region_variant,,ENST00000442536,;TNS3,splice_region_variant,,ENST00000450444,;TNS3,splice_region_variant,,ENST00000457718,;TNS3,splice_region_variant,,ENST00000458317,; - ENSG00000136205 ENST00000311160 Transcript splice_region_variant,intron_variant rs371560985 1 -1 TNS3 HGNC HGNC:21616 protein_coding YES CCDS5506.2 ENSP00000312143 Q68CZ2 UPI00001AE9DA NM_022748.11 2/30 LOW 1 deletion 1 PASS CTGG . . 0.0576 0.01345 0.08522 0.03922 0.09721 0.04501 0.06004 0.06287 0.03603 47506946 MED16 . GRCh38 chr19 875275 875279 + Frame_Shift_Del DEL CAGCC CAGCC - rs1428907591 7316-3556 BS_TKRHXGZQ CAGCC CAGCC c.1736_1740del p.Arg579HisfsTer13 p.R579Hfs*13 ENST00000325464 10/16 87 69 18 18 18 0 MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000395808,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000312090,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000325464,NM_005481.2;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000589119,;MED16,frameshift_variant,p.Arg333HisfsTer13,ENST00000607471,;MED16,frameshift_variant,p.Arg510HisfsTer13,ENST00000592943,;MED16,frameshift_variant,p.Arg435HisfsTer13,ENST00000586017,;MED16,frameshift_variant,p.Arg167HisfsTer13,ENST00000606828,;MED16,intron_variant,,ENST00000269814,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,upstream_gene_variant,,ENST00000621073,;MED16,frameshift_variant,p.Arg579HisfsTer13,ENST00000606248,;,regulatory_region_variant,,ENSR00000105561,; - ENSG00000175221 ENST00000325464 Transcript frameshift_variant 1887-1891/2922 1736-1740/2634 579-580/877 RL/X cGGCTG/c rs1428907591,COSM1724576 1 -1 MED16 HGNC HGNC:17556 protein_coding YES CCDS12047.1 ENSP00000325612 Q9Y2X0 UPI0000141671 NM_005481.2 10/16 Pfam_domain:PF11635,hmmpanther:PTHR13224 0,1 HIGH 1 deletion 5 0,1 PASS GTCAGCCG . . 0.00176 0.003278 0.002615 0.00159 0.002705 0.0001441 0.001357 0.002191 0.002236 875274 MED16 . GRCh38 chr19 875287 875288 + Frame_Shift_Del DEL GG GG - novel 7316-3556 BS_TKRHXGZQ GG GG c.1727_1728del p.Pro576ArgfsTer17 p.P576Rfs*17 ENST00000325464 10/16 92 74 18 19 17 0 MED16,frameshift_variant,p.Pro576ArgfsTer17,ENST00000395808,;MED16,frameshift_variant,p.Pro576ArgfsTer17,ENST00000312090,;MED16,frameshift_variant,p.Pro576ArgfsTer17,ENST00000325464,NM_005481.2;MED16,frameshift_variant,p.Pro576ArgfsTer17,ENST00000589119,;MED16,frameshift_variant,p.Pro330ArgfsTer17,ENST00000607471,;MED16,frameshift_variant,p.Pro507ArgfsTer17,ENST00000592943,;MED16,frameshift_variant,p.Pro432ArgfsTer17,ENST00000586017,;MED16,frameshift_variant,p.Pro164ArgfsTer17,ENST00000606828,;MED16,intron_variant,,ENST00000269814,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,upstream_gene_variant,,ENST00000621073,;MED16,frameshift_variant,p.Pro576ArgfsTer17,ENST00000606248,;,regulatory_region_variant,,ENSR00000105561,; - ENSG00000175221 ENST00000325464 Transcript frameshift_variant 1878-1879/2922 1727-1728/2634 576/877 P/X cCC/c 1 -1 MED16 HGNC HGNC:17556 protein_coding YES CCDS12047.1 ENSP00000325612 Q9Y2X0 UPI0000141671 NM_005481.2 10/16 Pfam_domain:PF11635,hmmpanther:PTHR13224 HIGH 1 deletion 5 PASS CCGGG . . 875286 MED16 . GRCh38 chr19 875295 875296 + Frame_Shift_Ins INS - - TAAAAAA novel 7316-3556 BS_TKRHXGZQ - - c.1719_1720insTTTTTTA p.Lys574PhefsTer22 p.K574Ffs*22 ENST00000325464 10/16 88 68 17 20 19 0 MED16,frameshift_variant,p.Lys574PhefsTer22,ENST00000395808,;MED16,frameshift_variant,p.Lys574PhefsTer22,ENST00000312090,;MED16,frameshift_variant,p.Lys574PhefsTer22,ENST00000325464,NM_005481.2;MED16,frameshift_variant,p.Lys574PhefsTer22,ENST00000589119,;MED16,frameshift_variant,p.Lys328PhefsTer22,ENST00000607471,;MED16,frameshift_variant,p.Lys505PhefsTer22,ENST00000592943,;MED16,frameshift_variant,p.Lys430PhefsTer22,ENST00000586017,;MED16,frameshift_variant,p.Lys162PhefsTer22,ENST00000606828,;MED16,intron_variant,,ENST00000269814,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,upstream_gene_variant,,ENST00000621073,;MED16,frameshift_variant,p.Lys574PhefsTer22,ENST00000606248,;,regulatory_region_variant,,ENSR00000105561,; TAAAAAA ENSG00000175221 ENST00000325464 Transcript frameshift_variant 1870-1871/2922 1719-1720/2634 573-574/877 -/FFX -/TTTTTTA 1 -1 MED16 HGNC HGNC:17556 protein_coding YES CCDS12047.1 ENSP00000325612 Q9Y2X0 UPI0000141671 NM_005481.2 10/16 Pfam_domain:PF11635,hmmpanther:PTHR13224 HIGH 1 insertion 5 PASS TTG . . 875295 AQP10 . GRCh38 chr1 154321988 154321988 + Missense_Mutation SNP A A G rs201824170 7316-345 BS_6QF29TRA A A c.161A>G p.Asn54Ser p.N54S ENST00000324978 2/6 76 67 9 31 30 0 AQP10,missense_variant,p.Asn54Ser,ENST00000484864,;AQP10,missense_variant,p.Asn54Ser,ENST00000324978,NM_080429.2;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;AQP10,intron_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,; G ENSG00000143595 ENST00000324978 Transcript missense_variant 201/1791 161/906 54/301 N/S aAc/aGc rs201824170,COSM4221976,COSM1736667 1 1 AQP10 HGNC HGNC:16029 protein_coding YES CCDS1065.1 ENSP00000318355 Q96PS8 UPI000007028A NM_080429.2 tolerated(0.5) possibly_damaging(0.6) 2/6 Gene3D:1.20.1080.10,Pfam_domain:PF00230,hmmpanther:PTHR43829,hmmpanther:PTHR43829:SF13,Superfamily_domains:SSF81338,TIGRFAM_domain:TIGR00861,cd00333 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AAC . . 0.01164 0.01481 0.007159 0.01139 0.002891 0.01945 0.01427 0.009133 0.007581 154321988 CCDC185 . GRCh38 chr1 223394947 223394947 + Missense_Mutation SNP G G A rs772416438 7316-345 BS_6QF29TRA G G c.1472G>A p.Arg491His p.R491H ENST00000366875 1/1 67 40 27 49 49 0 CCDC185,missense_variant,p.Arg491His,ENST00000366875,NM_152610.2; A ENSG00000178395 ENST00000366875 Transcript missense_variant 1531/2054 1472/1872 491/623 R/H cGc/cAc rs772416438,COSM4972062 1 1 CCDC185 HGNC HGNC:26654 protein_coding YES CCDS1537.1 ENSP00000355840 Q8N715 UPI000006F948 NM_152610.2 tolerated(0.14) benign(0.072) 1/1 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15558,hmmpanther:PTHR33663,hmmpanther:PTHR33663:SF3 0,1 MODERATE 1 SNV 0,1 PASS CGC . . 2.845e-05 8.936e-05 5.798e-05 9.747e-05 223394947 RGPD4 . GRCh38 chr2 107859472 107859472 + Missense_Mutation SNP C C T rs143215949 7316-345 BS_6QF29TRA C C c.1552C>T p.Leu518Phe p.L518F ENST00000408999 11/23 87 74 12 40 39 0 RGPD4,missense_variant,p.Leu518Phe,ENST00000408999,NM_182588.2; T ENSG00000196862 ENST00000408999 Transcript missense_variant 1629/5464 1552/5277 518/1758 L/F Ctt/Ttt rs143215949,COSM4991564,COSM227222 1 1 RGPD4 HGNC HGNC:32417 protein_coding YES CCDS46381.1 ENSP00000386810 Q7Z3J3 UPI0000418FF7 NM_182588.2 tolerated(0.11) benign(0.001) 11/23 Gene3D:1.25.40.10 0.01445 0.004714 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCT . . 0.0001022 0.0002639 0.0003202 0.0001083 6.507e-05 107859472 ZSWIM6 . GRCh38 chr5 61332792 61332794 + In_Frame_Del DEL GCC GCC - rs1262946696 7316-345 BS_6QF29TRA GCC GCC c.549_551del p.Ala184del p.A184del ENST00000252744 1/14 63 40 6 19 16 0 ZSWIM6,inframe_deletion,p.Ala184del,ENST00000252744,NM_020928.1;,regulatory_region_variant,,ENSR00000181391,; - ENSG00000130449 ENST00000252744 Transcript inframe_deletion 520-522/5501 520-522/3648 174/1215 A/- GCC/- rs1262946696 1 1 ZSWIM6 HGNC HGNC:29316 protein_coding YES CCDS47215.1 ENSP00000252744 Q9HCJ5 UPI0001837EA2 NM_020928.1 1/14 Low_complexity_(Seg):seg MODERATE 1 deletion 5 29 1 PASS CTGCCG . . 61332791 SLIT3 . GRCh38 chr5 168883289 168883289 + Missense_Mutation SNP C C G 7316-345 BS_6QF29TRA C C c.461G>C p.Arg154Pro p.R154P ENST00000332966 5/36 75 43 29 52 52 0 SLIT3,missense_variant,p.Arg154Pro,ENST00000519560,NM_003062.3;SLIT3,missense_variant,p.Arg17Pro,ENST00000404867,;SLIT3,missense_variant,p.Arg154Pro,ENST00000332966,NM_001271946.1;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,; G ENSG00000184347 ENST00000332966 Transcript missense_variant 534/4895 461/4593 154/1530 R/P cGc/cCc COSM3410131,COSM3410130 1 -1 SLIT3 HGNC HGNC:11087 protein_coding YES CCDS64311.1 ENSP00000332164 O75094 UPI0001E8F75D NM_001271946.1 deleterious(0) probably_damaging(0.999) 5/36 Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,hmmpanther:PTHR24373:SF15,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058 1,1 MODERATE 1 SNV 1 1,1 PASS GCG . . 168883289 AMPD3 . GRCh38 chr11 10482193 10482193 + Missense_Mutation SNP C C T rs202051288 7316-345 BS_6QF29TRA C C c.584C>T p.Ala195Val p.A195V ENST00000396554 4/15 84 70 13 40 38 0 AMPD3,missense_variant,p.Ala27Val,ENST00000444303,NM_001172431.1;AMPD3,missense_variant,p.Ala195Val,ENST00000396554,NM_000480.2;AMPD3,missense_variant,p.Ala186Val,ENST00000396553,NM_001025389.1;AMPD3,missense_variant,p.Ala186Val,ENST00000529507,NM_001172430.1;AMPD3,missense_variant,p.Ala193Val,ENST00000528723,NM_001025390.1;AMPD3,missense_variant,p.Ala186Val,ENST00000524866,;AMPD3,downstream_gene_variant,,ENST00000532250,;AMPD3,downstream_gene_variant,,ENST00000529835,;AMPD3,missense_variant,p.Ala195Val,ENST00000534047,;AMPD3,missense_variant,p.Ala186Val,ENST00000529834,;AMPD3,non_coding_transcript_exon_variant,,ENST00000531227,; T ENSG00000133805 ENST00000396554 Transcript missense_variant 925/3806 584/2331 195/776 A/V gCg/gTg rs202051288 1 1 AMPD3 HGNC HGNC:470 protein_coding YES CCDS7802.1 ENSP00000379802 Q01432 UPI0000161AFD NM_000480.2 tolerated(0.61) benign(0.018) 4/15 mobidb-lite,hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF2,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556 0.0004 0.0008 0.0014 MODERATE 1 SNV 1 1 PASS GCG . . 0.0001304 0.000132 0.0003277 0.0002903 0.0001169 0.0001831 10482193 KCNJ12 . GRCh38 chr17 21416057 21416057 + Missense_Mutation SNP G G A rs77048459 7316-345 BS_6QF29TRA G G c.715G>A p.Glu239Lys p.E239K ENST00000583088 3/3 100 81 16 53 50 0 KCNJ12,missense_variant,p.Glu239Lys,ENST00000583088,NM_021012.4;KCNJ12,missense_variant,p.Glu239Lys,ENST00000331718,; A ENSG00000184185 ENST00000583088 Transcript missense_variant 1610/5425 715/1302 239/433 E/K Gag/Aag rs77048459,COSM3722241 1 1 KCNJ12 HGNC HGNC:6258 protein_coding YES CCDS11219.1 ENSP00000463778 Q14500 UPI00000725C7 NM_021012.4 tolerated(1) benign(0.167) 3/3 hmmpanther:PTHR11767:SF14,hmmpanther:PTHR11767,Gene3D:2.60.40.1400,Pfam_domain:PF01007,Superfamily_domains:SSF81296,Prints_domain:PR01325 0,1 MODERATE 1 SNV 1 0,1 PASS CGA . . 0.1917 0.09408 0.2153 0.1621 0.4748 0.2263 0.1698 0.1674 0.2191 21416057 ZNF521 . GRCh38 chr18 25224424 25224424 + Missense_Mutation SNP A A T novel 7316-345 BS_6QF29TRA A A c.3494T>A p.Val1165Glu p.V1165E ENST00000361524 4/8 69 55 5 46 45 0 ZNF521,missense_variant,p.Val1165Glu,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Val945Glu,ENST00000584787,NM_001308225.1;ZNF521,missense_variant,p.Val1165Glu,ENST00000538137,;ZNF521,missense_variant,p.Val123Glu,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,missense_variant,p.Val1165Glu,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,; T ENSG00000198795 ENST00000361524 Transcript missense_variant 3643/4871 3494/3936 1165/1311 V/E gTg/gAg 1 -1 ZNF521 HGNC HGNC:24605 protein_coding YES CCDS32806.1 ENSP00000354794 Q96K83 UPI000006F982 NM_015461.2 tolerated_low_confidence(0.81) benign(0.017) 4/8 PROSITE_profiles:PS50157,hmmpanther:PTHR44392,hmmpanther:PTHR44392:SF2,Gene3D:3.30.160.60 MODERATE 1 SNV 1 1 PASS CAC . . 25224424 KIR2DL3 . GRCh38 chr19 54742106 54742106 + Missense_Mutation SNP T T A rs78713511 7316-345 BS_6QF29TRA T T c.197T>A p.Phe66Tyr p.F66Y ENST00000342376 3/8 77 62 14 36 34 1 KIR2DL3,missense_variant,p.Phe66Tyr,ENST00000342376,NM_015868.2;AC245128.1,intron_variant,,ENST00000400864,;,regulatory_region_variant,,ENSR00000111550,; A ENSG00000243772 ENST00000342376 Transcript missense_variant 228/1590 197/1026 66/341 F/Y tTt/tAt rs78713511,COSM5712916,COSM321259 1 1 KIR2DL3 HGNC HGNC:6331 protein_coding YES CCDS33107.1 ENSP00000342215 P43628 E3NZD8 UPI000012DB1C NM_015868.2 tolerated(0.94) benign(0.007) 3/8 Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF124,SMART_domains:SM00409,Superfamily_domains:SSF48726,cd05711 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS TTT . . 54742106 RBMXL3 . GRCh38 chrX 115191912 115191912 + Missense_Mutation SNP A A G rs1175253663 7316-345 BS_6QF29TRA A A c.2471A>G p.His824Arg p.H824R ENST00000424776 1/1 35 26 6 24 17 0 RBMXL3,missense_variant,p.His824Arg,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1; G ENSG00000175718 ENST00000424776 Transcript missense_variant 2486/3442 2471/3204 824/1067 H/R cAc/cGc rs1175253663 1 1 RBMXL3 HGNC HGNC:26859 protein_coding YES CCDS55478.1 ENSP00000417451 Q8N7X1 UPI0001932819 NM_001145346.1 tolerated_low_confidence(1) benign(0.001) 1/1 mobidb-lite,hmmpanther:PTHR44345:SF2,hmmpanther:PTHR44345 MODERATE SNV PASS CAC . . 115191912 PLEKHM2 . GRCh38 chr1 15716230 15716230 + Splice_Region SNP C C T rs76932674 7316-167 BS_APFT88Y3 C C c.61-7C>T ENST00000375799 40 34 6 38 37 1 PLEKHM2,splice_region_variant,,ENST00000375793,;PLEKHM2,splice_region_variant,,ENST00000375799,NM_015164.2;PLEKHM2,splice_region_variant,,ENST00000642363,;AL450998.3,downstream_gene_variant,,ENST00000615472,;AL450998.3,downstream_gene_variant,,ENST00000623689,;PLEKHM2,splice_region_variant,,ENST00000462455,; T ENSG00000116786 ENST00000375799 Transcript splice_region_variant,intron_variant rs76932674 1 1 PLEKHM2 HGNC HGNC:29131 protein_coding YES CCDS44063.1 ENSP00000364956 Q8IWE5 UPI00001C1D9C NM_015164.2 1/19 benign LOW 1 SNV 1 1 1 PASS TCT . . 0.005947 0.00986 0.004241 0.005326 0.0005539 0.004852 0.006565 0.00747 0.007894 15716230 RPRM . GRCh38 chr2 153478498 153478498 + Missense_Mutation SNP A A C novel 7316-167 BS_APFT88Y3 A A c.68T>G p.Leu23Arg p.L23R ENST00000325926 1/1 62 49 7 60 54 2 RPRM,missense_variant,p.Leu23Arg,ENST00000325926,NM_019845.2;AC012501.1,intron_variant,,ENST00000424322,; C ENSG00000177519 ENST00000325926 Transcript missense_variant 311/1471 68/330 23/109 L/R cTg/cGg 1 -1 RPRM HGNC HGNC:24201 protein_coding YES CCDS2198.1 ENSP00000314946 Q9NS64 UPI0000072BEC NM_019845.2 deleterious_low_confidence(0) benign(0.082) 1/1 hmmpanther:PTHR28649,hmmpanther:PTHR28649:SF2 MODERATE SNV PASS CAG . . 153478498 IDH1 . GRCh38 chr2 208248388 208248388 + Missense_Mutation SNP C C T rs121913500 7316-167 BS_APFT88Y3 C C c.395G>A p.Arg132His p.R132H ENST00000415913 4/10 73 56 16 82 79 0 IDH1,missense_variant,p.Arg132His,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132His,ENST00000345146,NM_005896.3;IDH1,missense_variant,p.Arg132His,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132His,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,; T ENSG00000138413 ENST00000415913 Transcript missense_variant 777/2441 395/1245 132/414 R/H cGt/cAt rs121913500,CM1310533,COSM28750,COSM28746 1 -1 IDH1 HGNC HGNC:5382 protein_coding YES CCDS2381.1 ENSP00000390265 O75874 V9HWJ2 UPI000012D1B4 NM_001282387.1 deleterious_low_confidence(0.01) benign(0.047) 4/10 PDB-ENSP_mappings:1t09.A,PDB-ENSP_mappings:1t09.B,PDB-ENSP_mappings:1t0l.A,PDB-ENSP_mappings:1t0l.B,PDB-ENSP_mappings:1t0l.C,PDB-ENSP_mappings:1t0l.D,Gene3D:3.40.718.10,PDB-ENSP_mappings:3inm.A,PDB-ENSP_mappings:3inm.B,PDB-ENSP_mappings:3inm.C,PDB-ENSP_mappings:3map.A,PDB-ENSP_mappings:3map.B,PDB-ENSP_mappings:3mar.A,PDB-ENSP_mappings:3mar.B,PDB-ENSP_mappings:3mas.A,PDB-ENSP_mappings:3mas.B,PDB-ENSP_mappings:4i3k.A,PDB-ENSP_mappings:4i3k.B,PDB-ENSP_mappings:4i3l.A,PDB-ENSP_mappings:4i3l.B,PDB-ENSP_mappings:4kzo.A,PDB-ENSP_mappings:4kzo.B,PDB-ENSP_mappings:4kzo.C,PDB-ENSP_mappings:4l03.A,PDB-ENSP_mappings:4l03.B,PDB-ENSP_mappings:4l03.C,PDB-ENSP_mappings:4l04.A,PDB-ENSP_mappings:4l04.B,PDB-ENSP_mappings:4l04.C,PDB-ENSP_mappings:4l04.D,PDB-ENSP_mappings:4l04.E,PDB-ENSP_mappings:4l04.F,PDB-ENSP_mappings:4l06.A,PDB-ENSP_mappings:4l06.B,PDB-ENSP_mappings:4l06.C,PDB-ENSP_mappings:4l06.D,PDB-ENSP_mappings:4l06.E,PDB-ENSP_mappings:4l06.F,PDB-ENSP_mappings:4umx.A,PDB-ENSP_mappings:4umx.B,PDB-ENSP_mappings:4umy.A,PDB-ENSP_mappings:4umy.B,PDB-ENSP_mappings:4xrx.A,PDB-ENSP_mappings:4xrx.B,PDB-ENSP_mappings:4xs3.A,PDB-ENSP_mappings:4xs3.B,PDB-ENSP_mappings:5de1.A,PDB-ENSP_mappings:5de1.B,PDB-ENSP_mappings:5gir.C,PDB-ENSP_mappings:5gir.D,PDB-ENSP_mappings:5k10.A,PDB-ENSP_mappings:5k10.B,PDB-ENSP_mappings:5k11.A,PDB-ENSP_mappings:5k11.B,PDB-ENSP_mappings:5l57.A,PDB-ENSP_mappings:5l58.A,PDB-ENSP_mappings:5lge.A,PDB-ENSP_mappings:5lge.B,PDB-ENSP_mappings:5lge.C,PDB-ENSP_mappings:5lge.D,PDB-ENSP_mappings:5sun.A,PDB-ENSP_mappings:5sun.B,PDB-ENSP_mappings:5svf.A,PDB-ENSP_mappings:5svf.B,PDB-ENSP_mappings:5svf.C,PDB-ENSP_mappings:5svf.D,PDB-ENSP_mappings:5tqh.A,PDB-ENSP_mappings:5tqh.B,PDB-ENSP_mappings:5tqh.C,PDB-ENSP_mappings:5tqh.D,PDB-ENSP_mappings:5yfm.A,PDB-ENSP_mappings:5yfm.B,PDB-ENSP_mappings:5yfm.C,PDB-ENSP_mappings:5yfn.A,PDB-ENSP_mappings:5yfn.B,PDB-ENSP_mappings:6b0z.A,PDB-ENSP_mappings:6b0z.B,PDB-ENSP_mappings:6b0z.C,PDB-ENSP_mappings:6b0z.D,Pfam_domain:PF00180,PIRSF_domain:PIRSF000108,hmmpanther:PTHR11822,hmmpanther:PTHR11822:SF21,SMART_domains:SM01329,Superfamily_domains:SSF53659,TIGRFAM_domain:TIGR00127 not_provided,likely_pathogenic,pathogenic 0,0,1,1 18772396,21446021,25043048 MODERATE 1 SNV 1 1,1,1,1 1 PASS ACG . . 208248388 SFT2D1 . GRCh38 chr6 166330187 166330187 + Missense_Mutation SNP C C T rs942629984 7316-167 BS_APFT88Y3 C C c.124G>A p.Val42Ile p.V42I ENST00000361731 2/8 78 70 8 98 98 0 SFT2D1,missense_variant,p.Val42Ile,ENST00000361731,NM_145169.2;SFT2D1,non_coding_transcript_exon_variant,,ENST00000487841,;SFT2D1,non_coding_transcript_exon_variant,,ENST00000478705,;SFT2D1,non_coding_transcript_exon_variant,,ENST00000488773,;SFT2D1,upstream_gene_variant,,ENST00000494682,;HNRNPA1P49,upstream_gene_variant,,ENST00000421336,; T ENSG00000198818 ENST00000361731 Transcript missense_variant 234/1079 124/480 42/159 V/I Gta/Ata rs942629984,COSM4725377 1 -1 SFT2D1 HGNC HGNC:21102 protein_coding YES CCDS5292.1 ENSP00000354590 Q8WV19 UPI00000722B1 NM_145169.2 tolerated(0.36) benign(0.015) 2/8 Pfam_domain:PF04178,hmmpanther:PTHR23137,hmmpanther:PTHR23137:SF1,Transmembrane_helices:TMhelix 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 4.222e-06 3.187e-05 166330187 EBLN1 . GRCh38 chr10 22209341 22209341 + Missense_Mutation SNP C C G novel 7316-167 BS_APFT88Y3 C C c.643G>C p.Glu215Gln p.E215Q ENST00000422359 1/1 94 85 8 101 100 0 EBLN1,missense_variant,p.Glu215Gln,ENST00000422359,NM_001199938.1; G ENSG00000223601 ENST00000422359 Transcript missense_variant 681/1208 643/1101 215/366 E/Q Gaa/Caa 1 -1 EBLN1 HGNC HGNC:39430 protein_coding YES CCDS60498.1 ENSP00000473842 P0CF75 UPI0000199CEF NM_001199938.1 deleterious(0.01) benign(0.014) 1/1 Gene3D:1.10.3040.10,Pfam_domain:PF06407,Superfamily_domains:SSF101399 MODERATE 1 SNV PASS TCA . . 22209341 IL18BP . GRCh38 chr11 72001811 72001811 + Missense_Mutation SNP A A C novel 7316-167 BS_APFT88Y3 A A c.535A>C p.Thr179Pro p.T179P ENST00000404792 5/5 90 62 17 65 58 1 IL18BP,missense_variant,p.Thr179Pro,ENST00000404792,NM_173042.2;IL18BP,missense_variant,p.Thr179Pro,ENST00000393703,NM_001039660.1;IL18BP,missense_variant,p.Thr179Pro,ENST00000337131,;IL18BP,missense_variant,p.His136Pro,ENST00000620017,NM_173044.2;IL18BP,missense_variant,p.Thr179Pro,ENST00000393705,NM_001039659.1;IL18BP,missense_variant,p.Thr179Pro,ENST00000260049,NM_001145057.1;IL18BP,missense_variant,p.His88Pro,ENST00000393707,NM_001145055.1;IL18BP,3_prime_UTR_variant,,ENST00000497194,NM_005699.3;NUMA1,downstream_gene_variant,,ENST00000351960,;NUMA1,downstream_gene_variant,,ENST00000358965,NM_001286561.1;RNF121,downstream_gene_variant,,ENST00000361756,NM_018320.4;NUMA1,downstream_gene_variant,,ENST00000393695,NM_006185.3;RNF121,downstream_gene_variant,,ENST00000393713,NM_001300926.1;RNF121,downstream_gene_variant,,ENST00000530137,;IL18BP,downstream_gene_variant,,ENST00000531053,;NUMA1,downstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000613205,;NUMA1,downstream_gene_variant,,ENST00000616538,;NUMA1,downstream_gene_variant,,ENST00000620566,;IL18BP,downstream_gene_variant,,ENST00000414358,;IL18BP,downstream_gene_variant,,ENST00000525932,;IL18BP,downstream_gene_variant,,ENST00000531777,;NUMA1,downstream_gene_variant,,ENST00000541262,;IL18BP,missense_variant,p.His136Pro,ENST00000343898,;IL18BP,missense_variant,p.Thr179Pro,ENST00000534583,;RNF121,downstream_gene_variant,,ENST00000526549,;NUMA1,downstream_gene_variant,,ENST00000540626,;NUMA1,downstream_gene_variant,,ENST00000545721,; C ENSG00000137496 ENST00000404792 Transcript missense_variant 1457/2172 535/585 179/194 T/P Acc/Ccc 1 1 IL18BP HGNC HGNC:5987 protein_coding YES CCDS8206.2 ENSP00000384212 O95998 A0A024R5G2 UPI000000DA78 NM_173042.2 tolerated(0.07) benign(0.003) 5/5 hmmpanther:PTHR14292 MODERATE 1 SNV 1 PASS CAC . . 72001811 IGHD . GRCh38 chr14 105844833 105844833 + Missense_Mutation SNP C C T rs375313822 7316-167 BS_APFT88Y3 C C c.398G>A p.Arg133His p.R133H ENST00000613640 2/6 61 49 12 70 68 0 IGHD,missense_variant,p.Arg133His,ENST00000613640,;IGHD,missense_variant,p.Arg133His,ENST00000390556,; T ENSG00000211898 ENST00000613640 Transcript missense_variant 398/1155 398/1155 133/384 R/H cGt/cAt rs375313822 1 -1 IGHD HGNC HGNC:5480 protein_coding YES ENSP00000478893 P01880 UPI00005B0B6F tolerated(0.13) benign(0.386) 2/6 mobidb-lite 0.0004 0.001 0.001 0.0002375 MODERATE 1 SNV 5 PASS ACG . . 0.0001764 0.0001465 6.404e-05 0.000299 0.0001031 105844833 NPRL3 . GRCh38 chr16 138336 138336 + Splice_Site SNP T T A rs2857995 7316-167 BS_APFT88Y3 T T c.-67-2A>T ENST00000620134 31 23 7 47 43 2 NPRL3,splice_acceptor_variant,,ENST00000611875,NM_001243247.1,NM_001077350.2;NPRL3,splice_acceptor_variant,,ENST00000620134,;NPRL3,5_prime_UTR_variant,,ENST00000399953,NM_001243248.1,NM_001039476.2,NM_001243249.1;NPRL3,intron_variant,,ENST00000468260,;NPRL3,upstream_gene_variant,,ENST00000419636,;NPRL3,splice_acceptor_variant,,ENST00000456528,;NPRL3,5_prime_UTR_variant,,ENST00000622194,;NPRL3,5_prime_UTR_variant,,ENST00000621703,;NPRL3,5_prime_UTR_variant,,ENST00000457916,;NPRL3,5_prime_UTR_variant,,ENST00000483663,;NPRL3,5_prime_UTR_variant,,ENST00000422814,;,regulatory_region_variant,,ENSR00000082133,; A ENSG00000103148 ENST00000620134 Transcript splice_acceptor_variant rs2857995 1 -1 NPRL3 HGNC HGNC:14124 protein_coding YES CCDS73795.1 ENSP00000483814 Q12980 UPI000013790E 1/14 HIGH 1 SNV 1 1 PASS CTG . . 138336 TP53 . GRCh38 chr17 7675064 7675065 + Frame_Shift_Del DEL GA GA - 7316-167 BS_APFT88Y3 GA GA c.547_548del p.Ser183ArgfsTer2 p.S183Rfs*2 ENST00000269305 5/11 39 25 8 65 64 0 TP53,frameshift_variant,p.Ser183ArgfsTer2,ENST00000617185,NM_001126114.2;TP53,frameshift_variant,p.Ser183ArgfsTer2,ENST00000420246,;TP53,frameshift_variant,p.Ser144ArgfsTer2,ENST00000622645,NM_001276696.1;TP53,frameshift_variant,p.Ser144ArgfsTer2,ENST00000610292,NM_001126118.1;TP53,frameshift_variant,p.Ser183ArgfsTer2,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Ser144ArgfsTer2,ENST00000610538,;TP53,frameshift_variant,p.Ser183ArgfsTer2,ENST00000269305,NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5;TP53,frameshift_variant,p.Ser144ArgfsTer2,ENST00000620739,;TP53,frameshift_variant,p.Ser183ArgfsTer2,ENST00000445888,;TP53,frameshift_variant,p.Ser144ArgfsTer2,ENST00000619485,;TP53,frameshift_variant,p.Ser51ArgfsTer2,ENST00000510385,NM_001276698.1,NM_001126116.1;TP53,frameshift_variant,p.Ser24ArgfsTer2,ENST00000618944,;TP53,frameshift_variant,p.Ser51ArgfsTer2,ENST00000504290,;TP53,frameshift_variant,p.Ser24ArgfsTer2,ENST00000610623,NM_001276699.1,NM_001126117.1;TP53,frameshift_variant,p.Ser51ArgfsTer2,ENST00000504937,;TP53,frameshift_variant,p.Ser24ArgfsTer2,ENST00000619186,NM_001276697.1,NM_001126115.1;TP53,frameshift_variant,p.Ser183ArgfsTer2,ENST00000359597,;TP53,frameshift_variant,p.Ser172ArgfsTer2,ENST00000615910,;TP53,frameshift_variant,p.Ser183ArgfsTer2,ENST00000413465,;TP53,frameshift_variant,p.Ser51ArgfsTer2,ENST00000509690,;TP53,frameshift_variant,p.Ser90ArgfsTer2,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,frameshift_variant,p.Ser144ArgfsTer2,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,; - ENSG00000141510 ENST00000269305 Transcript frameshift_variant 737-738/2579 547-548/1182 183/393 S/X TCa/a COSM3734699 1 -1 TP53 HGNC HGNC:11998 protein_coding YES CCDS11118.1 ENSP00000269305 P04637 K7PPA8 UPI000002ED67 NM_001276760.1,NM_001126112.2,NM_001276761.1,NM_000546.5 5/11 cd08367,hmmpanther:PTHR11447:SF6,hmmpanther:PTHR11447,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417 1 HIGH 1 deletion 1 1 1 PASS CTGAG . . 7675063 CDK11B . GRCh38 chr1 1641724 1641732 + In_Frame_Del DEL TCCTCCTCC TCCTCCTCC - rs200429680 7316-193 BS_JNFPEM6F TCCTCCTCC TCCTCCTCC c.978_986del p.Glu334_Glu336del p.E334_E336del ENST00000407249 9/20 87 59 20 36 34 0 CDK11B,inframe_deletion,p.Glu321_Glu323del,ENST00000341832,NM_033487.2,NM_001291345.1,NM_033486.2,NM_033490.2;CDK11B,inframe_deletion,p.Glu334_Glu336del,ENST00000407249,NM_001787.2;CDK11B,inframe_deletion,p.Glu287_Glu289del,ENST00000340677,NM_033489.2;CDK11B,inframe_deletion,p.Glu324_Glu326del,ENST00000629312,;CDK11B,inframe_deletion,p.Glu322_Glu324del,ENST00000629289,;CDK11B,inframe_deletion,p.Glu311_Glu313del,ENST00000626918,;CDK11B,downstream_gene_variant,,ENST00000341028,;CDK11B,3_prime_UTR_variant,,ENST00000611150,;CDK11B,3_prime_UTR_variant,,ENST00000615951,; - ENSG00000248333 ENST00000407249 Transcript inframe_deletion 1090-1098/2677 978-986/2388 326-329/795 EEEE/E gaGGAGGAGGAa/gaa rs200429680,COSM4591988,COSM4591987 1 -1 CDK11B HGNC HGNC:1729 protein_coding YES CCDS72683.1 ENSP00000464036 P21127 UPI0003EAF5FB NM_001787.2 9/20 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF332,Gene3D:3.30.200.20 0,1,1 MODERATE 1 deletion 1 0,1,1 PASS CTTCCTCCTCCT . . 0.1702 0.03298 0.1967 0.3275 0.0645 0.227 0.2659 0.207 0.1266 1641723 AL033527.4 . GRCh38 chr1 39801487 39801487 + Splice_Region DEL A A - rs1254761412 7316-193 BS_JNFPEM6F A A n.603-3del ENST00000641026 58 14 18 28 17 0 AL033527.4,splice_region_variant,,ENST00000641026,;AL033527.5,intron_variant,,ENST00000641382,;AL033527.5,upstream_gene_variant,,ENST00000641632,; - ENSG00000284678 ENST00000641026 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1254761412 1 -1 AL033527.4 Clone_based_ensembl_gene lincRNA YES 3/3 LOW 1 deletion PASS CTAA . . 39801486 EFCAB14 . GRCh38 chr1 46707981 46707981 + Frame_Shift_Del DEL T T - novel 7316-193 BS_JNFPEM6F T T c.405del p.Lys135AsnfsTer13 p.K135Nfs*13 ENST00000371933 3/11 100 89 5 51 51 0 EFCAB14,frameshift_variant,p.Lys135AsnfsTer13,ENST00000371933,NM_014774.2; - ENSG00000159658 ENST00000371933 Transcript frameshift_variant 1382/5767 405/1488 135/495 K/X aaA/aa 1 -1 EFCAB14 HGNC HGNC:29051 protein_coding YES CCDS30706.1 ENSP00000361001 O75071 UPI000003B443 NM_014774.2 3/11 hmmpanther:PTHR15717,Gene3D:1.20.120.330 HIGH 1 deletion 1 PASS TGTT . . 46707980 FCGR2A . GRCh38 chr1 161513933 161513933 + Splice_Site SNP G G A rs409763 7316-193 BS_JNFPEM6F G G c.780+1G>A p.X260_splice ENST00000271450 104 86 17 54 52 0 FCGR2A,splice_donor_variant,,ENST00000271450,NM_001136219.1,NM_201563.5;FCGR2A,splice_donor_variant,,ENST00000367972,NM_021642.3;FCGR2A,splice_donor_variant,,ENST00000459885,;FCGR2A,splice_donor_variant,,ENST00000461298,;FCGR2A,splice_donor_variant,,ENST00000471026,;AL590385.2,splice_donor_variant,,ENST00000537821,;FCGR2A,upstream_gene_variant,,ENST00000486608,;FCGR2A,upstream_gene_variant,,ENST00000491841,;FCGR2A,splice_donor_variant,,ENST00000483665,;FCGR2A,intron_variant,,ENST00000467525,;FCGR2A,downstream_gene_variant,,ENST00000467654,;FCGR2A,downstream_gene_variant,,ENST00000536731,;,regulatory_region_variant,,ENSR00000014698,; A ENSG00000143226 ENST00000271450 Transcript splice_donor_variant rs409763,COSM3740782 1 1 FCGR2A HGNC HGNC:3616 protein_coding YES CCDS44264.1 ENSP00000271450 P12318 UPI000013D8DE NM_001136219.1,NM_201563.5 6/6 0,1 HIGH 1 SNV 1 0,1 1 PASS GGT . . 0.0007229 0.0002665 0.000219 0.008468 0.002444 0.0001825 0.0002162 0.0005537 0.0003942 161513933 PRG4 . GRCh38 chr1 186307508 186307508 + Missense_Mutation SNP A A C rs917902101 7316-193 BS_JNFPEM6F A A c.1789A>C p.Thr597Pro p.T597P ENST00000445192 7/13 54 35 11 26 21 0 PRG4,missense_variant,p.Thr597Pro,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Thr556Pro,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Thr554Pro,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Thr504Pro,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Thr463Pro,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,; C ENSG00000116690 ENST00000445192 Transcript missense_variant 1834/5044 1789/4215 597/1404 T/P Acc/Ccc rs917902101,COSM1127220 1 1 PRG4 HGNC HGNC:9364 protein_coding YES CCDS1369.1 ENSP00000399679 Q92954 UPI0004620CBB NM_005807.4 tolerated(0.33) benign(0) 7/13 hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 5 0,1 1 PASS CAC . . 6.573e-05 3.801e-05 0.0001104 8.061e-05 0.0001412 6.961e-05 3.774e-05 186307508 ASPM . GRCh38 chr1 197090091 197090092 + Splice_Region INS - - A rs748383126 7316-193 BS_JNFPEM6F - - c.9830-8dup ENST00000367409 78 58 10 39 38 0 ASPM,splice_region_variant,,ENST00000294732,NM_001206846.1;ASPM,splice_region_variant,,ENST00000367408,;ASPM,splice_region_variant,,ENST00000367409,NM_018136.4; A ENSG00000066279 ENST00000367409 Transcript splice_region_variant,intron_variant rs748383126 1 -1 ASPM HGNC HGNC:19048 protein_coding YES CCDS1389.1 ENSP00000356379 Q8IZT6 UPI0000458904 NM_018136.4 24/27 uncertain_significance LOW 1 insertion 1 1 PASS AGA . . 0.002673 0.006549 0.002959 0.002229 0.00101 0.002195 0.002426 0.002503 0.002741 197090091 IGFN1 . GRCh38 chr1 201211189 201211189 + Missense_Mutation SNP A A G rs200678915 7316-193 BS_JNFPEM6F A A c.6296A>G p.Glu2099Gly p.E2099G ENST00000335211 12/24 69 47 15 39 32 0 IGFN1,missense_variant,p.Glu2099Gly,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6426/11810 6296/11127 2099/3708 E/G gAg/gGg rs200678915,COSM5760817 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(0.65) benign(0.068) 12/24 0.0409 0.0197 0.0389 0.1032 0.0388 0.0092 0,1 MODERATE 1 SNV 5 0,1 PASS GAG . . 0.0001648 0.0003163 0.0002115 0.0005408 5.204e-05 0.0004022 201211189 EMILIN1 . GRCh38 chr2 27082758 27082758 + Missense_Mutation SNP A A C rs777231622 7316-193 BS_JNFPEM6F A A c.1187A>C p.His396Pro p.H396P ENST00000380320 4/8 63 44 14 43 41 0 EMILIN1,missense_variant,p.His396Pro,ENST00000380320,NM_007046.3;KHK,upstream_gene_variant,,ENST00000260598,NM_006488.2;KHK,upstream_gene_variant,,ENST00000260599,NM_000221.2;KHK,upstream_gene_variant,,ENST00000429697,;EMILIN1,upstream_gene_variant,,ENST00000433140,;KHK,upstream_gene_variant,,ENST00000490823,; C ENSG00000138080 ENST00000380320 Transcript missense_variant 1686/3943 1187/3051 396/1016 H/P cAc/cCc rs777231622,COSM4593591 1 1 EMILIN1 HGNC HGNC:19880 protein_coding YES CCDS1733.1 ENSP00000369677 Q9Y6C2 UPI0000073B0E NM_007046.3 tolerated(0.34) possibly_damaging(0.5) 4/8 Gene3D:1.20.1170.10,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF1,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 1 PASS CAC . . 2.351e-05 6.349e-05 27082758 EML6 . GRCh38 chr2 54725195 54725195 + Missense_Mutation SNP T T G rs781554139 7316-193 BS_JNFPEM6F T T c.134T>G p.Val45Gly p.V45G ENST00000356458 1/41 36 23 12 36 35 1 EML6,missense_variant,p.Val45Gly,ENST00000356458,NM_001039753.2;EML6,intron_variant,,ENST00000491655,;EML6,downstream_gene_variant,,ENST00000496970,;,regulatory_region_variant,,ENSR00000117250,; G ENSG00000214595 ENST00000356458 Transcript missense_variant 654/8320 134/5877 45/1958 V/G gTg/gGg rs781554139 1 1 EML6 HGNC HGNC:35412 protein_coding YES CCDS46286.1 ENSP00000348842 Q6ZMW3 UPI00006C0432 NM_001039753.2 deleterious(0) probably_damaging(0.977) 1/41 Gene3D:2.130.10.10,Pfam_domain:PF03451,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8,Superfamily_domains:SSF50998,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS GTG . . 0.0008406 0.0002229 0.003787 0.0009147 0.0006502 4.841e-05 54725195 FOXD4L1 . GRCh38 chr2 113500013 113500013 + Missense_Mutation SNP G G C rs200085244 7316-193 BS_JNFPEM6F G G c.757G>C p.Ala253Pro p.A253P ENST00000306507 1/1 78 54 22 35 31 1 FOXD4L1,missense_variant,p.Ala253Pro,ENST00000306507,NM_012184.4;CBWD2,downstream_gene_variant,,ENST00000259199,NM_172003.3;CBWD2,downstream_gene_variant,,ENST00000416503,NM_001330336.1;CBWD2,downstream_gene_variant,,ENST00000433343,;CBWD2,downstream_gene_variant,,ENST00000358604,;CBWD2,downstream_gene_variant,,ENST00000456188,;CBWD2,downstream_gene_variant,,ENST00000468417,;CBWD2,downstream_gene_variant,,ENST00000479583,;,regulatory_region_variant,,ENSR00000122093,; C ENSG00000184492 ENST00000306507 Transcript missense_variant 1349/2491 757/1227 253/408 A/P Gcc/Ccc rs200085244,COSM1285042 1 1 FOXD4L1 HGNC HGNC:18521 protein_coding YES CCDS2117.1 ENSP00000302756 Q9NU39 UPI000012ADD0 NM_012184.4 tolerated(0.31) possibly_damaging(0.498) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF331 0,1 MODERATE SNV 0,1 PASS CGC . . 0.02579 0.02266 0.06418 0.01792 0.01771 0.01997 0.01851 0.02662 0.02118 113500013 AOX1 . GRCh38 chr2 200661607 200661607 + Missense_Mutation SNP A A G rs55754655 7316-193 BS_JNFPEM6F A A c.3404A>G p.Asn1135Ser p.N1135S ENST00000374700 30/35 87 80 5 35 35 0 AOX1,missense_variant,p.Asn1135Ser,ENST00000374700,NM_001159.3;AOX1,missense_variant,p.Asn21Ser,ENST00000260930,;AOX1,upstream_gene_variant,,ENST00000439380,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,; G ENSG00000138356 ENST00000374700 Transcript missense_variant 3645/5074 3404/4017 1135/1338 N/S aAc/aGc rs55754655,CM126501 1 1 AOX1 HGNC HGNC:553 protein_coding YES CCDS33360.1 ENSP00000363832 Q06278 UPI0000071863 NM_001159.3 tolerated(1) benign(0.001) 30/35 Gene3D:3.30.365.10,PDB-ENSP_mappings:4uhw.A,PDB-ENSP_mappings:4uhx.A,PDB-ENSP_mappings:5epg.A,Pfam_domain:PF02738,PIRSF_domain:PIRSF000127,hmmpanther:PTHR11908,hmmpanther:PTHR11908:SF86,Superfamily_domains:SSF56003,TIGRFAM_domain:TIGR02969 0.1098 0.2678 0.072 0.003 0.1213 0.0215 0.2581 0.1298 24944790,22495427,24713130,24300566,19500084,24925693,28566086 MODERATE 1 SNV 1 0,1 PASS AAC . . 0.1087 0.2565 0.06961 0.09298 0.002669 0.09142 0.139 0.1249 0.04285 200661607 PARD3B . GRCh38 chr2 205440640 205440640 + Missense_Mutation SNP C C A rs200838968 7316-193 BS_JNFPEM6F C C c.3012C>A p.Asn1004Lys p.N1004K ENST00000406610 20/23 86 74 10 52 51 0 PARD3B,missense_variant,p.Asn1004Lys,ENST00000406610,NM_001302769.1;PARD3B,missense_variant,p.Asn868Lys,ENST00000613457,;PARD3B,missense_variant,p.Asn861Lys,ENST00000614500,;PARD3B,missense_variant,p.Asn942Lys,ENST00000358768,NM_152526.5;PARD3B,missense_variant,p.Asn935Lys,ENST00000351153,NM_057177.6;PARD3B,intron_variant,,ENST00000349953,NM_205863.3;PARD3B,intron_variant,,ENST00000622699,;PARD3B,downstream_gene_variant,,ENST00000494482,; A ENSG00000116117 ENST00000406610 Transcript missense_variant 3219/8174 3012/3618 1004/1205 N/K aaC/aaA rs200838968,COSM3927757,COSM3927756,COSM3927755 1 1 PARD3B HGNC HGNC:14446 protein_coding YES CCDS77511.1 ENSP00000385848 Q8TEW8 UPI0000070178 NM_001302769.1 tolerated(0.42) probably_damaging(0.986) 20/23 hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF4 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS ACA . . 0.1236 0.1658 0.08984 0.09601 0.1289 0.1584 0.131 0.07413 0.1146 205440640 GIGYF2 . GRCh38 chr2 232760537 232760537 + Frame_Shift_Del DEL T T - 7316-193 BS_JNFPEM6F T T c.441del p.Phe147LeufsTer31 p.F147Lfs*31 ENST00000409451 8/31 80 71 5 32 27 0 GIGYF2,frameshift_variant,p.Phe147LeufsTer31,ENST00000629305,;GIGYF2,frameshift_variant,p.Phe147LeufsTer31,ENST00000409547,NM_015575.3;GIGYF2,frameshift_variant,p.Phe147LeufsTer31,ENST00000409480,;GIGYF2,frameshift_variant,p.Phe147LeufsTer31,ENST00000409451,NM_001103147.1;GIGYF2,frameshift_variant,p.Phe147LeufsTer31,ENST00000373563,NM_001103146.1;GIGYF2,frameshift_variant,p.Phe147LeufsTer31,ENST00000409196,NM_001103148.1;GIGYF2,frameshift_variant,p.Phe147LeufsTer31,ENST00000440945,;GIGYF2,frameshift_variant,p.Phe62LeufsTer?,ENST00000456491,;GIGYF2,intron_variant,,ENST00000423659,;GIGYF2,downstream_gene_variant,,ENST00000421433,;GIGYF2,upstream_gene_variant,,ENST00000424414,;GIGYF2,downstream_gene_variant,,ENST00000425040,;GIGYF2,downstream_gene_variant,,ENST00000428883,;GIGYF2,downstream_gene_variant,,ENST00000429187,;GIGYF2,downstream_gene_variant,,ENST00000430720,;GIGYF2,upstream_gene_variant,,ENST00000436349,;GIGYF2,upstream_gene_variant,,ENST00000445650,;AC064852.1,non_coding_transcript_exon_variant,,ENST00000427571,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000463554,;GIGYF2,upstream_gene_variant,,ENST00000473170,;GIGYF2,upstream_gene_variant,,ENST00000475530,;GIGYF2,3_prime_UTR_variant,,ENST00000424038,; - ENSG00000204120 ENST00000409451 Transcript frameshift_variant 663/5937 437/3963 146/1320 V/X gTt/gt COSM1163724,COSM1163723 1 1 GIGYF2 HGNC HGNC:11960 protein_coding YES CCDS46542.1 ENSP00000387170 Q6Y7W6 UPI00003FEC8F NM_001103147.1 8/31 hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF38,Low_complexity_(Seg):seg 1,1 HIGH 1 deletion 1 4 1,1 1 PASS TGTT . . 232760536 PLCL2 . GRCh38 chr3 16885200 16885200 + Missense_Mutation SNP T T G rs199698930 7316-193 BS_JNFPEM6F T T c.161T>G p.Val54Gly p.V54G ENST00000615277 1/6 34 19 15 48 44 1 PLCL2,missense_variant,p.Val54Gly,ENST00000615277,NM_001144382.1;PLCL2,intron_variant,,ENST00000460467,;,regulatory_region_variant,,ENSR00000149313,; G ENSG00000154822 ENST00000615277 Transcript missense_variant 242/4147 161/3384 54/1127 V/G gTt/gGt rs199698930 1 1 PLCL2 HGNC HGNC:9064 protein_coding YES CCDS74911.1 ENSP00000478458 Q9UPR0 UPI0000242D01 NM_001144382.1 deleterious_low_confidence(0.02) benign(0) 1/6 mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 0.0126 0.002708 0.001328 0.01874 0.01177 0.016 0.008125 0.02522 16885200 TRA2B . GRCh38 chr3 185923990 185923991 + Splice_Region INS - - A rs765475921 7316-193 BS_JNFPEM6F - - c.334-7dup ENST00000453386 85 60 10 52 46 0 TRA2B,splice_region_variant,,ENST00000382191,NM_001243879.1;TRA2B,splice_region_variant,,ENST00000453386,NM_004593.2;TRA2B,upstream_gene_variant,,ENST00000259043,;TRA2B,upstream_gene_variant,,ENST00000414862,;TRA2B,non_coding_transcript_exon_variant,,ENST00000465245,;TRA2B,downstream_gene_variant,,ENST00000471134,;TRA2B,splice_region_variant,,ENST00000456380,;TRA2B,splice_region_variant,,ENST00000487615,;TRA2B,splice_region_variant,,ENST00000492417,;TRA2B,non_coding_transcript_exon_variant,,ENST00000463328,;TRA2B,upstream_gene_variant,,ENST00000466832,;TRA2B,downstream_gene_variant,,ENST00000477939,;TRA2B,downstream_gene_variant,,ENST00000485530,;TRA2B,downstream_gene_variant,,ENST00000493864,; A ENSG00000136527 ENST00000453386 Transcript splice_region_variant,intron_variant rs765475921 1 -1 TRA2B HGNC HGNC:10781 protein_coding YES CCDS33905.1 ENSP00000416959 P62995 UPI00000040A0 NM_004593.2 3/8 LOW 1 insertion 1 PASS GGA . . 0.005222 0.003783 0.00797 0.009167 0.006254 0.00446 0.003951 0.007797 0.00769 185923990 MUC4 . GRCh38 chr3 195780453 195780453 + Missense_Mutation SNP G G C rs1018195432 7316-193 BS_JNFPEM6F G G c.11127C>G p.His3709Gln p.H3709Q ENST00000463781 2/25 58 46 11 33 30 0 MUC4,missense_variant,p.His3709Gln,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His3709Gln,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His3709Gln,ENST00000478156,;MUC4,missense_variant,p.His3709Gln,ENST00000466475,;MUC4,missense_variant,p.His3709Gln,ENST00000477756,;MUC4,missense_variant,p.His3709Gln,ENST00000477086,;MUC4,missense_variant,p.His3709Gln,ENST00000480843,;MUC4,missense_variant,p.His3709Gln,ENST00000462323,;MUC4,missense_variant,p.His3709Gln,ENST00000470451,;MUC4,missense_variant,p.His3709Gln,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; C ENSG00000145113 ENST00000463781 Transcript missense_variant 11587/17110 11127/16239 3709/5412 H/Q caC/caG rs1018195432,COSM479906 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.29) benign(0.234) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS TGT . . 0.03713 0.0277 0.03034 0.01952 0.07571 0.05368 0.04042 0.04064 0.01845 195780453 IDUA . GRCh38 chr4 1002416 1002416 + Missense_Mutation SNP A A C rs775816150 7316-193 BS_JNFPEM6F A A c.1120A>C p.Thr374Pro p.T374P ENST00000247933 8/14 33 13 15 50 49 0 IDUA,missense_variant,p.Thr374Pro,ENST00000247933,NM_000203.4;IDUA,missense_variant,p.Thr242Pro,ENST00000514224,;IDUA,downstream_gene_variant,,ENST00000502910,;IDUA,downstream_gene_variant,,ENST00000504568,;IDUA,downstream_gene_variant,,ENST00000509948,;IDUA,downstream_gene_variant,,ENST00000514192,;IDUA,non_coding_transcript_exon_variant,,ENST00000514698,;IDUA,upstream_gene_variant,,ENST00000502829,;IDUA,downstream_gene_variant,,ENST00000506561,;IDUA,downstream_gene_variant,,ENST00000508168,;IDUA,upstream_gene_variant,,ENST00000514417,;,regulatory_region_variant,,ENSR00000164751,; C ENSG00000127415 ENST00000247933 Transcript missense_variant 1208/2163 1120/1962 374/653 T/P Acc/Ccc rs775816150,COSM3993871,COSM3993870 1 1 IDUA HGNC HGNC:5391 protein_coding YES CCDS3343.1 ENSP00000247933 P35475 UPI00004571D0 NM_000203.4 deleterious(0) probably_damaging(0.995) 8/14 Gene3D:3.20.20.80,Pfam_domain:PF01229,hmmpanther:PTHR12631,hmmpanther:PTHR12631:SF8,Superfamily_domains:SSF51445 0,1,1 28676128 MODERATE 1 SNV 1 0,1,1 1 PASS CAC . . 0.001946 0.002558 0.0002815 0.001247 0.0007343 0.005062 0.002559 0.002054 0.001058 1002416 GSX2 . GRCh38 chr4 54100733 54100733 + Missense_Mutation SNP A A C rs755907375 7316-193 BS_JNFPEM6F A A c.389A>C p.His130Pro p.H130P ENST00000326902 1/2 36 14 15 37 34 1 GSX2,missense_variant,p.His130Pro,ENST00000326902,;GSX2,missense_variant,p.His130Pro,ENST00000611459,NM_133267.2;GSX2,intron_variant,,ENST00000503800,;AC058822.1,intron_variant,,ENST00000507166,;GSX2,intron_variant,,ENST00000507839,;GSX2,upstream_gene_variant,,ENST00000548609,;,regulatory_region_variant,,ENSR00000168465,; C ENSG00000180613 ENST00000326902 Transcript missense_variant 703/1812 389/915 130/304 H/P cAc/cCc rs755907375,COSM6391035 1 1 GSX2 HGNC HGNC:24959 protein_coding YES CCDS3494.1 ENSP00000319118 Q9BZM3 UPI0000141A63 tolerated(0.18) benign(0.043) 1/2 Low_complexity_(Seg):seg,mobidb-lite,Gene3D:1.10.10.60,hmmpanther:PTHR24326:SF170,hmmpanther:PTHR24326 0,1 MODERATE 1 SNV 1 0,1 PASS CAC . . 0.0001212 0.0001772 0.0002094 0.0002344 4.575e-05 54100733 PKD2 . GRCh38 chr4 88008330 88008330 + Splice_Site SNP T T G rs1018717398 7316-193 BS_JNFPEM6F T T c.595+2T>G p.X199_splice ENST00000237596 30 12 17 47 46 0 PKD2,splice_donor_variant,,ENST00000237596,NM_000297.3;PKD2,splice_donor_variant,,ENST00000506727,;,regulatory_region_variant,,ENSR00000170535,; G ENSG00000118762 ENST00000237596 Transcript splice_donor_variant rs1018717398 1 1 PKD2 HGNC HGNC:9009 protein_coding YES CCDS3627.1 ENSP00000237596 Q13563 UPI000013CA1D NM_000297.3 1/14 HIGH 1 SNV 1 1 PASS GTA . . 88008330 GUCY1A1 . GRCh38 chr4 155713152 155713152 + Frame_Shift_Del DEL T T - novel 7316-193 BS_JNFPEM6F T T c.1145del p.Leu382TrpfsTer9 p.L382Wfs*9 ENST00000296518 7/10 96 84 5 43 42 0 GUCY1A1,frameshift_variant,p.Leu382TrpfsTer9,ENST00000296518,;GUCY1A1,frameshift_variant,p.Leu124TrpfsTer9,ENST00000393832,NM_001130685.2;GUCY1A1,frameshift_variant,p.Leu382TrpfsTer9,ENST00000511108,NM_000856.5;GUCY1A1,frameshift_variant,p.Leu382TrpfsTer9,ENST00000506455,NM_001130682.2;GUCY1A1,frameshift_variant,p.Leu382TrpfsTer9,ENST00000513574,NM_001130684.2;GUCY1A1,frameshift_variant,p.Leu382TrpfsTer9,ENST00000455639,NM_001130683.3,NM_001256449.1;GUCY1A1,frameshift_variant,p.Leu382TrpfsTer9,ENST00000511507,NM_001130687.2;GUCY1A1,intron_variant,,ENST00000621234,;GUCY1A1,downstream_gene_variant,,ENST00000515602,;GUCY1A1,3_prime_UTR_variant,,ENST00000443668,;GUCY1A1,intron_variant,,ENST00000509901,;GUCY1A1,intron_variant,,ENST00000515201,;GUCY1A1,downstream_gene_variant,,ENST00000512983,; - ENSG00000164116 ENST00000296518 Transcript frameshift_variant 1350/4400 1141/2073 381/690 F/X Ttt/tt 1 1 GUCY1A1 HGNC HGNC:4685 protein_coding YES CCDS34085.1 ENSP00000296518 Q02108 UPI0000033343 7/10 hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF226,Pfam_domain:PF07701 HIGH 1 deletion 1 4 1 PASS TGTT . . 155713151 DDX60L . GRCh38 chr4 168391651 168391651 + Splice_Region SNP A A G rs79208472 7316-193 BS_JNFPEM6F A A c.3811-7T>C ENST00000260184 82 54 9 25 18 0 DDX60L,splice_region_variant,,ENST00000260184,NM_001012967.2;DDX60L,intron_variant,,ENST00000505890,NM_001291510.1;DDX60L,intron_variant,,ENST00000511577,NM_001345927.1;DDX60L,intron_variant,,ENST00000514580,;DDX60L,downstream_gene_variant,,ENST00000505863,;DDX60L,downstream_gene_variant,,ENST00000503190,; G ENSG00000181381 ENST00000260184 Transcript splice_region_variant,intron_variant rs79208472,COSM4330791 1 -1 DDX60L HGNC HGNC:26429 protein_coding YES CCDS47161.1 ENSP00000260184 Q5H9U9 UPI0003EAE873 NM_001012967.2 28/37 0.0831 0.0726 0.1023 0.0585 0.0934 0.0982 0,1 LOW 1 SNV 5 0,1 PASS AAA . . 0.1245 0.1455 0.1219 0.1289 0.1243 0.1014 0.1273 0.1313 0.1244 168391651 AC098864.1 . GRCh38 chr4 182081833 182081834 + Splice_Region INS - - A rs1273728555 7316-193 BS_JNFPEM6F - - n.232-8dup ENST00000505537 71 46 10 44 40 0 AC098864.1,splice_region_variant,,ENST00000505537,;AC098864.1,splice_region_variant,,ENST00000507869,;AC098864.1,splice_region_variant,,ENST00000509012,; A ENSG00000177822 ENST00000505537 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1273728555 1 -1 AC098864.1 Clone_based_ensembl_gene antisense 1/2 LOW insertion 3 PASS CGA . . 182081833 DNAH5 . GRCh38 chr5 13793631 13793631 + Frame_Shift_Del DEL A A - novel 7316-193 BS_JNFPEM6F A A c.8108del p.Leu2703TrpfsTer4 p.L2703Wfs*4 ENST00000265104 49/79 83 75 5 37 36 0 DNAH5,frameshift_variant,p.Leu2703TrpfsTer4,ENST00000265104,NM_001369.2; - ENSG00000039139 ENST00000265104 Transcript frameshift_variant 8213/15633 8108/13875 2703/4624 L/X tTg/tg 1 -1 DNAH5 HGNC HGNC:2950 protein_coding YES CCDS3882.1 ENSP00000265104 Q8TE73 UPI0000110101 NM_001369.2 49/79 hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240,Gene3D:3.40.50.300,Pfam_domain:PF12775,SMART_domains:SM00382,Superfamily_domains:SSF52540 HIGH 1 deletion 1 1 PASS CCAA . . 13793630 THBS4 . GRCh38 chr5 80035627 80035627 + Splice_Site SNP T T G rs1227141925 7316-193 BS_JNFPEM6F T T c.88+2T>G p.X30_splice ENST00000350881 31 10 13 34 34 0 THBS4,splice_donor_variant,,ENST00000350881,NM_003248.5;THBS4,upstream_gene_variant,,ENST00000511733,NM_001306214.1,NM_001306212.1,NM_001306213.1;THBS4,intron_variant,,ENST00000510218,;THBS4,intron_variant,,ENST00000513310,;TRMT112P2,upstream_gene_variant,,ENST00000512910,; G ENSG00000113296 ENST00000350881 Transcript splice_donor_variant rs1227141925,COSM5989330 1 1 THBS4 HGNC HGNC:11788 protein_coding YES CCDS4049.1 ENSP00000339730 P35443 UPI000013D591 NM_003248.5 1/21 0,1 HIGH 1 SNV 1 0,1 PASS GTA . . 9.198e-05 0.0005435 0.0001387 80035627 ADGRV1 . GRCh38 chr5 90728706 90728706 + Frame_Shift_Del DEL A A - novel 7316-193 BS_JNFPEM6F A A c.10203del p.Lys3401AsnfsTer8 p.K3401Nfs*8 ENST00000405460 49/90 82 70 6 47 43 0 ADGRV1,frameshift_variant,p.Lys3401AsnfsTer8,ENST00000405460,;ADGRV1,frameshift_variant,p.Lys3401AsnfsTer8,ENST00000645211,NM_032119.3;ADGRV1,non_coding_transcript_exon_variant,,ENST00000640374,;ADGRV1,non_coding_transcript_exon_variant,,ENST00000509621,;ADGRV1,non_coding_transcript_exon_variant,,ENST00000640464,;ADGRV1,intron_variant,,ENST00000639431,;ADGRV1,downstream_gene_variant,,ENST00000640779,; - ENSG00000164199 ENST00000405460 Transcript frameshift_variant 10295/19554 10199/18921 3400/6306 Q/X cAa/ca 1 1 ADGRV1 HGNC HGNC:17416 protein_coding YES CCDS47246.1 ENSP00000384582 Q8WXG9 UPI00002127A7 49/90 Pfam_domain:PF03736,PROSITE_profiles:PS50912,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20 HIGH 1 deletion 1 4 1 PASS TCAA . . 90728705 SLC12A2 . GRCh38 chr5 128084481 128084481 + Missense_Mutation SNP A A G rs745770246 7316-193 BS_JNFPEM6F A A c.527A>G p.Asp176Gly p.D176G ENST00000262461 1/27 53 30 16 45 40 2 SLC12A2,missense_variant,p.Asp176Gly,ENST00000262461,NM_001046.2;SLC12A2,missense_variant,p.Asp176Gly,ENST00000343225,NM_001256461.1;SLC12A2,missense_variant,p.Asp176Gly,ENST00000628403,;LINC01184,upstream_gene_variant,,ENST00000499346,;LINC01184,upstream_gene_variant,,ENST00000501173,;LINC01184,upstream_gene_variant,,ENST00000501652,;LINC01184,upstream_gene_variant,,ENST00000501702,;LINC01184,upstream_gene_variant,,ENST00000508353,;LINC01184,upstream_gene_variant,,ENST00000508878,;LINC01184,upstream_gene_variant,,ENST00000514409,;LINC01184,upstream_gene_variant,,ENST00000514573,;LINC01184,upstream_gene_variant,,ENST00000606251,;SLC12A2,missense_variant,p.Asp176Gly,ENST00000509205,;,regulatory_region_variant,,ENSR00000186556,; G ENSG00000064651 ENST00000262461 Transcript missense_variant 716/6885 527/3639 176/1212 D/G gAc/gGc rs745770246,COSM4597584 1 1 SLC12A2 HGNC HGNC:10911 protein_coding YES CCDS4144.1 ENSP00000262461 P55011 Q53ZR1 UPI000013541A NM_001046.2 deleterious(0.01) probably_damaging(0.996) 1/27 hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF58,mobidb-lite 0,1 MODERATE 1 SNV 1 0,1 PASS GAC . . 2.279e-05 5.875e-05 4.149e-05 128084481 TDRD6 . GRCh38 chr6 46688727 46688727 + Missense_Mutation SNP T T G rs200156736 7316-193 BS_JNFPEM6F T T c.599T>G p.Val200Gly p.V200G ENST00000316081 1/4 41 13 25 25 23 0 TDRD6,missense_variant,p.Val200Gly,ENST00000544460,NM_001168359.1;TDRD6,missense_variant,p.Val200Gly,ENST00000316081,NM_001010870.2;AL591242.1,upstream_gene_variant,,ENST00000422284,;AL591242.1,upstream_gene_variant,,ENST00000434329,;AL591242.1,upstream_gene_variant,,ENST00000571590,; G ENSG00000180113 ENST00000316081 Transcript missense_variant 599/6817 599/6291 200/2096 V/G gTg/gGg rs200156736,COSM4161255 1 1 TDRD6 HGNC HGNC:21339 protein_coding YES CCDS34470.1 ENSP00000346065 O60522 UPI0000251E8A NM_001010870.2 deleterious(0.01) possibly_damaging(0.856) 1/4 Gene3D:2.40.50.90,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF15 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 0.001475 0.00194 9.284e-05 0.001425 0.0003657 0.006973 0.001921 0.0006209 0.0001752 46688727 PTCHD4 . GRCh38 chr6 48068591 48068591 + Missense_Mutation SNP A A C rs200176519 7316-193 BS_JNFPEM6F A A c.65T>G p.Val22Gly p.V22G ENST00000339488 1/3 65 19 39 52 50 2 PTCHD4,missense_variant,p.Val22Gly,ENST00000398738,NM_207499.2;PTCHD4,missense_variant,p.Val22Gly,ENST00000339488,NM_001013732.3; C ENSG00000244694 ENST00000339488 Transcript missense_variant 99/2850 65/2541 22/846 V/G gTg/gGg rs200176519,COSM3747691,COSM3747690 1 -1 PTCHD4 HGNC HGNC:21345 protein_coding YES CCDS34473.2 ENSP00000341914 Q6ZW05 UPI000179A8D3 NM_001013732.3 tolerated(0.06) benign(0.018) 1/3 hmmpanther:PTHR10796:SF15,hmmpanther:PTHR10796 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS CAC . . 0.07746 0.05716 0.02568 0.1188 0.02799 0.1143 0.09767 0.05353 0.09927 48068591 KCNQ5 . GRCh38 chr6 72622521 72622521 + Missense_Mutation SNP T T G rs200862397 7316-193 BS_JNFPEM6F T T c.332T>G p.Val111Gly p.V111G ENST00000342056 1/15 37 12 21 36 34 1 KCNQ5,missense_variant,p.Val111Gly,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,missense_variant,p.Val111Gly,ENST00000355635,;KCNQ5,missense_variant,p.Val111Gly,ENST00000402622,;KCNQ5,missense_variant,p.Val111Gly,ENST00000355194,;KCNQ5,missense_variant,p.Val111Gly,ENST00000403813,;KCNQ5,missense_variant,p.Val111Gly,ENST00000370398,NM_019842.3;KCNQ5,missense_variant,p.Val111Gly,ENST00000414165,;KCNQ5,missense_variant,p.Val111Gly,ENST00000628967,NM_001160134.1;KCNQ5,missense_variant,p.Val111Gly,ENST00000629977,NM_001160130.1;KCNQ5,missense_variant,p.Val111Gly,ENST00000370392,;,regulatory_region_variant,,ENSR00000321416,; G ENSG00000185760 ENST00000342056 Transcript missense_variant 730/6688 332/2856 111/951 V/G gTg/gGg rs200862397,COSM4161342,COSM4161341,COSM4161340 1 1 KCNQ5 HGNC HGNC:6299 protein_coding YES CCDS55034.1 ENSP00000345055 Q9NR82 UPI000155D644 NM_001160132.1,NM_001160133.1 deleterious(0) benign(0.112) 1/15 hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF128 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 1 PASS GTG . . 0.001964 0.003179 0.0004106 0.001651 0.001319 0.002634 0.002462 0.001427 0.001869 72622521 FOXO3 . GRCh38 chr6 108664278 108664278 + Missense_Mutation SNP G G A rs199833934 7316-193 BS_JNFPEM6F G G c.1445G>A p.Ser482Asn p.S482N ENST00000406360 2/3 43 36 7 23 23 0 FOXO3,missense_variant,p.Ser482Asn,ENST00000406360,NM_001455.3;FOXO3,missense_variant,p.Ser482Asn,ENST00000343882,NM_201559.2;FOXO3,missense_variant,p.Ser262Asn,ENST00000540898,; A ENSG00000118689 ENST00000406360 Transcript missense_variant 1788/7341 1445/2022 482/673 S/N aGc/aAc rs199833934,COSM5424494 1 1 FOXO3 HGNC HGNC:3821 protein_coding YES CCDS5068.1 ENSP00000385824 O43524 UPI000012ADEA NM_001455.3 tolerated(0.39) possibly_damaging(0.715) 2/3 Low_complexity_(Seg):seg,Pfam_domain:PF16675,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF97 0,1 MODERATE 1 SNV 1 0,1 1 PASS AGC . . 8.33e-06 6.801e-05 9.296e-06 108664278 NKAIN2 . GRCh38 chr6 123804222 123804222 + Missense_Mutation SNP T T G rs78426148 7316-193 BS_JNFPEM6F T T c.22T>G p.Cys8Gly p.C8G ENST00000368417 1/7 47 22 21 45 45 0 NKAIN2,missense_variant,p.Cys8Gly,ENST00000368417,NM_001300740.1,NM_001040214.2,NM_153355.4,NM_001300738.1;NKAIN2,missense_variant,p.Cys8Gly,ENST00000368416,;NKAIN2,non_coding_transcript_exon_variant,,ENST00000476571,; G ENSG00000188580 ENST00000368417 Transcript missense_variant 82/3115 22/627 8/208 C/G Tgc/Ggc rs78426148,COSM4160168,COSM4160167 1 1 NKAIN2 HGNC HGNC:16443 protein_coding YES CCDS34526.1 ENSP00000357402 Q5VXU1 UPI0000458919 NM_001300740.1,NM_001040214.2,NM_153355.4,NM_001300738.1 deleterious(0.04) possibly_damaging(0.537) 1/7 Transmembrane_helices:TMhelix,Pfam_domain:PF05640 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS GTG . . 0.04331 0.04712 0.02584 0.04919 0.03574 0.1045 0.04574 0.03445 0.02268 123804222 ANLN . GRCh38 chr7 36407814 36407814 + Frame_Shift_Del DEL A A - novel 7316-193 BS_JNFPEM6F A A c.958del p.Thr320LeufsTer6 p.T320Lfs*6 ENST00000265748 5/24 87 74 6 39 37 0 ANLN,frameshift_variant,p.Thr320LeufsTer6,ENST00000265748,NM_018685.4;ANLN,frameshift_variant,p.Thr320LeufsTer6,ENST00000396068,NM_001284301.2,NM_001284302.2;ANLN,downstream_gene_variant,,ENST00000424865,;ANLN,upstream_gene_variant,,ENST00000428612,;ANLN,non_coding_transcript_exon_variant,,ENST00000495714,;ANLN,non_coding_transcript_exon_variant,,ENST00000460598,;ANLN,3_prime_UTR_variant,,ENST00000441696,;ANLN,3_prime_UTR_variant,,ENST00000452877,;ANLN,3_prime_UTR_variant,,ENST00000429082,; - ENSG00000011426 ENST00000265748 Transcript frameshift_variant 1175/4787 954/3375 318/1124 P/X ccA/cc 1 1 ANLN HGNC HGNC:14082 protein_coding YES CCDS5447.1 ENSP00000265748 Q9NQW6 A0A024RA49 UPI00001A95DE NM_018685.4 5/24 mobidb-lite,hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF23 HIGH 1 deletion 1 4 1 PASS CCAA . . 36407813 POM121 . GRCh38 chr7 72942052 72942052 + Missense_Mutation SNP G G A rs1204906535 7316-193 BS_JNFPEM6F G G c.1264G>A p.Ala422Thr p.A422T ENST00000395270 14/16 34 23 11 27 25 0 POM121,missense_variant,p.Ala422Thr,ENST00000395270,NM_001257190.2;POM121,missense_variant,p.Ala422Thr,ENST00000627934,NM_172020.4;POM121,missense_variant,p.Ala422Thr,ENST00000358357,;POM121,missense_variant,p.Ala687Thr,ENST00000434423,;POM121,missense_variant,p.Ala422Thr,ENST00000446813,; A ENSG00000196313 ENST00000395270 Transcript missense_variant 2305/7011 1264/3000 422/999 A/T Gct/Act rs1204906535,COSM4610762,COSM4610761,COSM4610760 1 1 POM121 HGNC HGNC:19702 protein_coding YES CCDS59059.1 ENSP00000378687 Q96HA1 UPI000013DA6B NM_001257190.2 tolerated(0.52) benign(0.194) 14/16 hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5,mobidb-lite 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS GGC . . 0.0003036 0.0002635 0.0006941 0.0004085 5.811e-05 0.0001352 0.0003089 0.0007377 3.254e-05 72942052 AC011005.1 . GRCh38 chr7 129126768 129126768 + Missense_Mutation SNP T T G rs759218596 7316-193 BS_JNFPEM6F T T c.251T>G p.Val84Gly p.V84G ENST00000467614 1/2 34 9 19 40 39 0 AC011005.1,missense_variant,p.Val84Gly,ENST00000467614,;,regulatory_region_variant,,ENSR00000217822,; G ENSG00000230626 ENST00000467614 Transcript missense_variant 251/1263 251/1218 84/405 V/G gTg/gGg rs759218596 1 1 AC011005.1 Clone_based_ensembl_gene protein_coding YES ENSP00000490163 A0A1B0GUL7 UPI0007E52AE8 deleterious(0) probably_damaging(0.972) 1/2 PROSITE_profiles:PS50011,cd06615,hmmpanther:PTHR24361:SF314,hmmpanther:PTHR24361,Gene3D:3.30.200.20,Pfam_domain:PF00069,Superfamily_domains:SSF56112 MODERATE 1 SNV 3 PASS GTG . . 0.002861 0.001811 0.0003907 0.0003081 0.0003508 0.01553 0.002817 0.001119 0.0009499 129126768 BRAF . GRCh38 chr7 140753336 140753336 + Missense_Mutation SNP A A T rs113488022 7316-193 BS_JNFPEM6F A A c.1799T>A p.Val600Glu p.V600E ENST00000646891 15/18 77 46 31 39 38 0 BRAF,missense_variant,p.Val600Glu,ENST00000496384,NM_001354609.1;BRAF,missense_variant,p.Val600Glu,ENST00000646891,NM_004333.4;BRAF,missense_variant,p.Val640Glu,ENST00000288602,;BRAF,missense_variant,p.Val640Glu,ENST00000644969,;BRAF,non_coding_transcript_exon_variant,,ENST00000644120,;BRAF,missense_variant,p.Val299Glu,ENST00000644650,;BRAF,missense_variant,p.Val157Glu,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000646730,;BRAF,3_prime_UTR_variant,,ENST00000642228,;BRAF,3_prime_UTR_variant,,ENST00000497784,;BRAF,non_coding_transcript_exon_variant,,ENST00000644905,;BRAF,intron_variant,,ENST00000642875,;BRAF,intron_variant,,ENST00000647434,; T ENSG00000157764 ENST00000646891 Transcript missense_variant 2024/6458 1799/2301 600/766 V/E gTg/gAg CM112509,rs113488022,COSM6137,COSM476,COSM18443 1 -1 BRAF HGNC HGNC:1097 protein_coding YES CCDS5863.1 ENSP00000493543 UPI000013DF26 NM_004333.4 deleterious(0) probably_damaging(0.963) 15/18 cd14062,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR44000:SF3,hmmpanther:PTHR44000 likely_pathogenic,pathogenic 0,1,1,1,1 23757202,12960123,12068308,20735442,26513174,26909593,28282860,28556791,29043205 MODERATE 1 SNV 1,1,1,1,1 1 PASS CAC . . 140753336 TRBV7-4 . GRCh38 chr7 142455559 142455559 + Missense_Mutation SNP A A G rs1173337964 7316-193 BS_JNFPEM6F A A c.271A>G p.Arg91Gly p.R91G ENST00000390369 2/2 110 82 28 40 38 1 TRBV7-4,missense_variant,p.Arg91Gly,ENST00000390369,;TRBV6-5,downstream_gene_variant,,ENST00000390368,;,regulatory_region_variant,,ENSR00000219246,; G ENSG00000253409 ENST00000390369 Transcript missense_variant 271/347 271/347 91/115 R/G Aga/Gga rs1173337964 1 1 TRBV7-4 HGNC HGNC:12238 TR_V_gene YES ENSP00000374892 A0A1B0GX95 UPI00053BD5AB tolerated(1) benign(0) 2/2 MODERATE 1 SNV PASS GAG . . 142455559 SPAG11A . GRCh38 chr8 7860658 7860658 + Missense_Mutation SNP T T C rs1071602 7316-193 BS_JNFPEM6F T T c.227T>C p.Leu76Pro p.L76P ENST00000326558 3/4 56 37 18 26 25 0 SPAG11A,missense_variant,p.Leu76Pro,ENST00000642566,;SPAG11A,missense_variant,p.Leu76Pro,ENST00000326558,NM_001081552.2;SPAG11A,missense_variant,p.Leu23Pro,ENST00000326625,;SPAG11A,synonymous_variant,p.Thr101=,ENST00000434307,;SPAG11A,synonymous_variant,p.Thr48=,ENST00000454911,;SPAG11A,intron_variant,,ENST00000351436,;SPAG11A,intron_variant,,ENST00000528033,;SPAG11A,intron_variant,,ENST00000525884,; C ENSG00000178287 ENST00000326558 Transcript missense_variant 250/612 227/327 76/108 L/P cTg/cCg rs1071602,COSM3951880,COSM3951881 1 1 SPAG11A HGNC HGNC:33342 protein_coding YES CCDS43700.1 ENSP00000316012 A0A0A0MR37 UPI000013E419 NM_001081552.2 tolerated(1) benign(0) 3/4 hmmpanther:PTHR14081 0.038 0.05023 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CTG . . 0.003158 0.02238 0.001182 0.0008187 0.001606 0.00108 0.002621 0.001893 0.0004573 7860658 NEFM . GRCh38 chr8 24913843 24913843 + Missense_Mutation SNP T T G rs199656813 7316-193 BS_JNFPEM6F T T c.50T>G p.Val17Gly p.V17G ENST00000221166 1/3 40 25 13 32 32 0 NEFM,missense_variant,p.Val17Gly,ENST00000221166,NM_005382.2;NEFM,missense_variant,p.Val17Gly,ENST00000437366,;NEFM,missense_variant,p.Val17Gly,ENST00000518131,;NEFM,upstream_gene_variant,,ENST00000433454,NM_001105541.1;AF106564.1,non_coding_transcript_exon_variant,,ENST00000607058,;AC120193.1,upstream_gene_variant,,ENST00000519689,;NEFM,non_coding_transcript_exon_variant,,ENST00000521540,;NEFM,intron_variant,,ENST00000523467,;,regulatory_region_variant,,ENSR00000222349,; G ENSG00000104722 ENST00000221166 Transcript missense_variant 832/4020 50/2751 17/916 V/G gTa/gGa rs199656813 1 1 NEFM HGNC HGNC:7734 protein_coding YES CCDS6046.1 ENSP00000221166 P07197 UPI000013C7A9 NM_005382.2 deleterious(0.01) benign(0.326) 1/3 Pfam_domain:PF04732,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF19,mobidb-lite MODERATE 1 SNV 1 PASS GTA . . 0.0004601 0.0002646 3.266e-05 0.0001198 0.0002706 0.001802 0.0005647 0.0006596 3.608e-05 24913843 LINC01605 . GRCh38 chr8 37531403 37531404 + Splice_Region INS - - A rs1482404064 7316-193 BS_JNFPEM6F - - n.163-6dup ENST00000519738 52 33 8 44 37 0 LINC01605,splice_region_variant,,ENST00000519738,;LINC01605,intron_variant,,ENST00000517363,; A ENSG00000253161 ENST00000519738 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1482404064 1 -1 LINC01605 HGNC HGNC:51654 lincRNA 1/5 LOW insertion 5 PASS CTA . . 37531403 FAM205A . GRCh38 chr9 34726207 34726207 + Missense_Mutation SNP G G A rs521574 7316-193 BS_JNFPEM6F G G c.1033C>T p.Pro345Ser p.P345S ENST00000378788 4/4 56 33 23 24 23 1 FAM205A,missense_variant,p.Pro345Ser,ENST00000378788,NM_001141917.1; A ENSG00000205108 ENST00000378788 Transcript missense_variant 1073/4225 1033/4008 345/1335 P/S Cct/Tct rs521574,COSM3952674,COSM3952675 1 -1 FAM205A HGNC HGNC:41911 protein_coding YES CCDS55305.1 ENSP00000417711 Q6ZU69 UPI00017EE92B NM_001141917.1 tolerated(1) benign(0) 4/4 hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF15 0.2388 0.0242 0.2032 0.4306 0.2525 0.3425 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GGA . . 0.1124 0.0167 0.1375 0.02625 0.3412 0.02257 0.1142 0.09207 0.1229 34726207 POLR1E . GRCh38 chr9 37486061 37486061 + Missense_Mutation SNP T T G novel 7316-193 BS_JNFPEM6F T T c.14T>G p.Val5Gly p.V5G ENST00000377798 1/12 47 26 15 63 60 2 POLR1E,missense_variant,p.Val5Gly,ENST00000377798,NM_022490.2;POLR1E,upstream_gene_variant,,ENST00000377792,NM_001282766.1;POLR1E,missense_variant,p.Val5Gly,ENST00000442009,;,regulatory_region_variant,,ENSR00000234869,;AL158156.1,downstream_gene_variant,,ENST00000422509,; G ENSG00000137054 ENST00000377798 Transcript missense_variant 127/1868 14/1260 5/419 V/G gTg/gGg 1 1 POLR1E HGNC HGNC:17631 protein_coding YES CCDS6611.1 ENSP00000367029 Q9GZS1 UPI00000467F3 NM_022490.2 tolerated_low_confidence(0.06) benign(0.05) 1/12 MODERATE 1 SNV 1 PASS GTG . . 37486061 PGM5 . GRCh38 chr9 68357130 68357130 + Translation_Start_Site SNP G G A rs2482232 7316-193 BS_JNFPEM6F G G c.3G>A p.Met1? p.M1? ENST00000396396 1/11 35 28 7 41 41 0 PGM5,start_lost,p.Met1?,ENST00000396396,NM_021965.3;PGM5,start_lost,p.Met1?,ENST00000396392,;PGM5,upstream_gene_variant,,ENST00000431583,;PGM5-AS1,intron_variant,,ENST00000417887,;PGM5-AS1,intron_variant,,ENST00000420855,;PGM5,intron_variant,,ENST00000604870,;,regulatory_region_variant,,ENSR00000235474,; A ENSG00000154330 ENST00000396396 Transcript start_lost 232/3338 3/1704 1/567 M/I atG/atA rs2482232 1 1 PGM5 HGNC HGNC:8908 protein_coding YES CCDS6622.2 ENSP00000379678 Q15124 UPI0000210ABF NM_021965.3 deleterious_low_confidence(0.01) benign(0.034) 1/11 hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF27,mobidb-lite 0.0002 0.0008 HIGH 1 SNV 2 PASS TGG . . 68357130 FRMD4A . GRCh38 chr10 13657338 13657338 + Missense_Mutation SNP T T G rs199968440 7316-193 BS_JNFPEM6F T T c.2251A>C p.Thr751Pro p.T751P ENST00000357447 22/25 38 21 16 52 47 3 FRMD4A,missense_variant,p.Thr751Pro,ENST00000357447,NM_001318337.1,NM_018027.4,NM_001318336.1;FRMD4A,upstream_gene_variant,,ENST00000495956,;AL157392.5,downstream_gene_variant,,ENST00000601460,;AL157392.3,downstream_gene_variant,,ENST00000596499,;AL157392.3,downstream_gene_variant,,ENST00000597920,;AL157392.3,downstream_gene_variant,,ENST00000599639,;AL157392.3,downstream_gene_variant,,ENST00000600249,;AL157392.3,downstream_gene_variant,,ENST00000601758,;AL157392.3,downstream_gene_variant,,ENST00000612284,;AL157392.3,downstream_gene_variant,,ENST00000613467,;AL157392.3,downstream_gene_variant,,ENST00000613937,;AL157392.3,downstream_gene_variant,,ENST00000615691,;AL157392.3,downstream_gene_variant,,ENST00000616949,;AL157392.3,downstream_gene_variant,,ENST00000617260,;AL157392.3,downstream_gene_variant,,ENST00000622389,;AL157392.3,intron_variant,,ENST00000593351,;AL157392.3,downstream_gene_variant,,ENST00000593358,;AL157392.3,downstream_gene_variant,,ENST00000600511,;AL157392.3,downstream_gene_variant,,ENST00000611235,;AL157392.3,downstream_gene_variant,,ENST00000612304,;AL157392.3,downstream_gene_variant,,ENST00000612602,;AL157392.3,downstream_gene_variant,,ENST00000612960,;AL157392.3,downstream_gene_variant,,ENST00000613031,;AL157392.3,downstream_gene_variant,,ENST00000613191,;AL157392.3,downstream_gene_variant,,ENST00000613332,;AL157392.3,downstream_gene_variant,,ENST00000615209,;AL157392.3,downstream_gene_variant,,ENST00000616092,;AL157392.3,downstream_gene_variant,,ENST00000616861,;AL157392.3,downstream_gene_variant,,ENST00000617534,;AL157392.3,downstream_gene_variant,,ENST00000618536,;AL157392.3,downstream_gene_variant,,ENST00000619389,;AL157392.3,downstream_gene_variant,,ENST00000619884,;AL157392.3,downstream_gene_variant,,ENST00000619944,;AL157392.3,downstream_gene_variant,,ENST00000620488,;AL157392.3,downstream_gene_variant,,ENST00000620600,;AL157392.3,downstream_gene_variant,,ENST00000620849,;AL157392.3,downstream_gene_variant,,ENST00000621308,;AL157392.3,downstream_gene_variant,,ENST00000621394,;AL157392.3,downstream_gene_variant,,ENST00000622799,;AL157392.3,downstream_gene_variant,,ENST00000419851,;AL157392.3,downstream_gene_variant,,ENST00000430721,;FRMD4A,upstream_gene_variant,,ENST00000475325,;AL157392.3,downstream_gene_variant,,ENST00000594575,;AL157392.3,downstream_gene_variant,,ENST00000596235,;AL157392.3,downstream_gene_variant,,ENST00000598625,;AL157392.3,downstream_gene_variant,,ENST00000610395,;AL157392.3,downstream_gene_variant,,ENST00000612296,;AL157392.3,downstream_gene_variant,,ENST00000612515,;AL157392.3,downstream_gene_variant,,ENST00000613992,;AL157392.3,downstream_gene_variant,,ENST00000614991,;AL157392.3,downstream_gene_variant,,ENST00000616222,;AL157392.3,downstream_gene_variant,,ENST00000618688,;AL157392.3,downstream_gene_variant,,ENST00000621532,; G ENSG00000151474 ENST00000357447 Transcript missense_variant 2620/6821 2251/3120 751/1039 T/P Acc/Ccc rs199968440,COSM1603236 1 -1 FRMD4A HGNC HGNC:25491 protein_coding YES CCDS7101.1 ENSP00000350032 Q9P2Q2 UPI0000366665 NM_001318337.1,NM_018027.4,NM_001318336.1 deleterious(0) probably_damaging(0.983) 22/25 hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF12,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 1 PASS GTG . . 0.04723 0.06995 0.03777 0.03382 0.05311 0.07371 0.05272 0.02736 0.02552 13657338 KIAA1217 . GRCh38 chr10 24438455 24438455 + Frame_Shift_Del DEL A A - novel 7316-193 BS_JNFPEM6F A A c.826del p.Thr276LeufsTer2 p.T276Lfs*2 ENST00000376454 5/21 89 79 5 33 32 0 KIAA1217,frameshift_variant,p.Thr276LeufsTer2,ENST00000376454,NM_019590.4;KIAA1217,frameshift_variant,p.Thr196LeufsTer2,ENST00000376462,NM_001098500.2;KIAA1217,frameshift_variant,p.Thr276LeufsTer2,ENST00000376452,NM_001282767.1;KIAA1217,frameshift_variant,p.Thr276LeufsTer2,ENST00000458595,NM_001282768.1;KIAA1217,frameshift_variant,p.Thr196LeufsTer2,ENST00000430453,;KIAA1217,frameshift_variant,p.Thr276LeufsTer2,ENST00000376456,;KIAA1217,frameshift_variant,p.Thr126LeufsTer2,ENST00000438429,; - ENSG00000120549 ENST00000376454 Transcript frameshift_variant 852/7381 822/5832 274/1943 P/X ccA/cc 1 1 KIAA1217 HGNC HGNC:25428 protein_coding YES CCDS31165.1 ENSP00000365637 Q5T5P2 UPI000013EC2A NM_019590.4 5/21 hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4 HIGH 1 deletion 1 4 PASS CCAA . . 24438454 PITX3 . GRCh38 chr10 102230980 102230980 + Missense_Mutation SNP T T G rs1159447563 7316-193 BS_JNFPEM6F T T c.443A>C p.Tyr148Ser p.Y148S ENST00000370002 4/4 41 22 13 44 41 1 PITX3,missense_variant,p.Tyr148Ser,ENST00000370002,NM_005029.3;PITX3,missense_variant,p.Tyr148Ser,ENST00000539804,;ELOVL3,downstream_gene_variant,,ENST00000370005,NM_152310.2;,regulatory_region_variant,,ENSR00000032705,; G ENSG00000107859 ENST00000370002 Transcript missense_variant 597/1391 443/909 148/302 Y/S tAc/tCc rs1159447563 1 -1 PITX3 HGNC HGNC:9006 protein_coding YES CCDS7532.1 ENSP00000359019 O75364 UPI0000131B4F NM_005029.3 deleterious(0) probably_damaging(0.961) 4/4 PIRSF_domain:PIRSF000563,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF305 MODERATE 1 SNV 1 1 PASS GTA . . 102230980 B4GALNT4 . GRCh38 chr11 377329 377329 + Splice_Site SNP T T G rs373329286 7316-193 BS_JNFPEM6F T T c.2204+2T>G p.X735_splice ENST00000329962 43 22 16 51 50 1 B4GALNT4,splice_donor_variant,,ENST00000329962,NM_178537.4;B4GALNT4,downstream_gene_variant,,ENST00000524443,;B4GALNT4,upstream_gene_variant,,ENST00000526584,;B4GALNT4,downstream_gene_variant,,ENST00000530717,;B4GALNT4,upstream_gene_variant,,ENST00000534778,; G ENSG00000182272 ENST00000329962 Transcript splice_donor_variant rs373329286 1 1 B4GALNT4 HGNC HGNC:26315 protein_coding YES CCDS7694.1 ENSP00000328277 Q76KP1 UPI00002326B6 NM_178537.4 14/19 HIGH 1 SNV 1 PASS GTA . . 0.001312 0.0039 0.00125 0.002273 0.0002567 0.001545 0.0007117 0.0005357 377329 ZC3H12C . GRCh38 chr11 110153005 110153005 + Frame_Shift_Del DEL T T - 7316-193 BS_JNFPEM6F T T c.864del p.Phe288LeufsTer25 p.F288Lfs*25 ENST00000278590 3/6 71 56 7 43 41 0 ZC3H12C,frameshift_variant,p.Phe257LeufsTer25,ENST00000453089,;ZC3H12C,frameshift_variant,p.Phe288LeufsTer25,ENST00000278590,NM_033390.1;ZC3H12C,frameshift_variant,p.Phe289LeufsTer25,ENST00000528673,;RDX,intron_variant,,ENST00000645527,; - ENSG00000149289 ENST00000278590 Transcript frameshift_variant 911/8807 860/2652 287/883 V/X gTt/gt COSM5424826 1 1 ZC3H12C HGNC HGNC:29362 protein_coding YES CCDS44727.1 ENSP00000278590 Q9C0D7 UPI0000DD80B8 NM_033390.1 3/6 hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF36,Pfam_domain:PF11977 1 HIGH 1 deletion 2 4 1 PASS AGTT . . 110153004 CRYAB . GRCh38 chr11 111910323 111910323 + Splice_Region SNP A A C rs11603779 7316-193 BS_JNFPEM6F A A c.324+4T>G ENST00000533475 84 78 5 36 36 0 CRYAB,missense_variant,p.Cys110Gly,ENST00000533971,;CRYAB,splice_region_variant,,ENST00000227251,;CRYAB,splice_region_variant,,ENST00000525823,;CRYAB,splice_region_variant,,ENST00000526167,;CRYAB,splice_region_variant,,ENST00000526180,NM_001289808.1;CRYAB,splice_region_variant,,ENST00000527899,;CRYAB,splice_region_variant,,ENST00000527950,;CRYAB,splice_region_variant,,ENST00000528961,;CRYAB,splice_region_variant,,ENST00000529647,;CRYAB,splice_region_variant,,ENST00000531198,;CRYAB,splice_region_variant,,ENST00000533280,NM_001330379.1;CRYAB,splice_region_variant,,ENST00000533475,;CRYAB,splice_region_variant,,ENST00000616970,NM_001289807.1,NM_001885.2;HSPB2,upstream_gene_variant,,ENST00000304298,NM_001541.3;CRYAB,upstream_gene_variant,,ENST00000524660,;CRYAB,downstream_gene_variant,,ENST00000528628,;CRYAB,downstream_gene_variant,,ENST00000533879,;HSPB2-C11orf52,upstream_gene_variant,,ENST00000527616,;HSPB2-C11orf52,upstream_gene_variant,,ENST00000534100,; C ENSG00000109846 ENST00000533475 Transcript splice_region_variant,intron_variant rs11603779,COSM3998232 1 -1 CRYAB HGNC HGNC:2389 protein_coding YES CCDS8351.1 ENSP00000433560 P02511 V9HW27 UPI00001283A1 3/3 0.2398 0.1952 0.3069 0.1905 0.3231 0.2178 0.2185 0.3 uncertain_significance,benign 0,1 25741868,24033266,21423869,28546921 LOW SNV 5 1,1 1 PASS CAT . . 0.274 0.2186 0.3008 0.3608 0.1784 0.2539 0.2894 0.2923 0.2538 111910323 FAM186A . GRCh38 chr12 50352028 50352028 + Missense_Mutation SNP G G A rs34782671 7316-193 BS_JNFPEM6F G G c.4804C>T p.Pro1602Ser p.P1602S ENST00000327337 4/8 90 61 12 57 50 0 FAM186A,missense_variant,p.Pro1602Ser,ENST00000543111,;FAM186A,missense_variant,p.Pro1602Ser,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; A ENSG00000185958 ENST00000327337 Transcript missense_variant 4804/7127 4804/7056 1602/2351 P/S Cct/Tct rs34782671,COSM4147147 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(0.66) benign(0.003) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS GGG . . 0.03474 0.05832 0.02999 0.01187 0.07807 0.03698 0.04644 0.02859 0.008031 50352028 SACS . GRCh38 chr13 23333232 23333232 + Frame_Shift_Del DEL A A - novel 7316-193 BS_JNFPEM6F A A c.10644del p.Phe3548LeufsTer23 p.F3548Lfs*23 ENST00000382292 10/10 90 78 5 44 42 0 SACS,frameshift_variant,p.Phe3548LeufsTer23,ENST00000382292,NM_014363.5,NM_001278055.1;SACS,frameshift_variant,p.Phe2798LeufsTer23,ENST00000402364,;SACS,intron_variant,,ENST00000423156,;SACS,intron_variant,,ENST00000455470,; - ENSG00000151835 ENST00000382292 Transcript frameshift_variant 11259/15665 10644/13740 3548/4579 F/X ttT/tt 1 -1 SACS HGNC HGNC:10519 protein_coding YES CCDS9300.2 ENSP00000371729 Q9NZJ4 UPI000047039D NM_014363.5,NM_001278055.1 10/10 hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF37 HIGH 1 deletion 5 1 PASS TCAA . . 23333231 FBXL3 . GRCh38 chr13 77007548 77007548 + Frame_Shift_Del DEL A A - rs764008859 7316-193 BS_JNFPEM6F A A c.884del p.Leu295TyrfsTer25 p.L295Yfs*25 ENST00000355619 5/5 63 51 5 51 50 0 FBXL3,frameshift_variant,p.Leu295TyrfsTer25,ENST00000355619,NM_012158.2;AC001226.2,intron_variant,,ENST00000635838,;CLN5,intron_variant,,ENST00000636525,;CLN5,intron_variant,,ENST00000636767,;CLN5,intron_variant,,ENST00000637397,;AC001226.2,intron_variant,,ENST00000638101,;AC001226.2,intron_variant,,ENST00000638147,;FBXL3,downstream_gene_variant,,ENST00000417323,;CLN5,downstream_gene_variant,,ENST00000636183,NM_006493.2;FBXL3,intron_variant,,ENST00000477982,;FBXL3,intron_variant,,ENST00000485797,;CLN5,intron_variant,,ENST00000635905,;AC001226.2,intron_variant,,ENST00000637192,;AC001226.2,upstream_gene_variant,,ENST00000461131,; - ENSG00000005812 ENST00000355619 Transcript frameshift_variant 1209/3503 884/1287 295/428 L/X tTa/ta rs764008859,COSM1367714 1 -1 FBXL3 HGNC HGNC:13599 protein_coding YES CCDS9457.1 ENSP00000347834 Q9UKT7 UPI0000035C8B NM_012158.2 5/5 Gene3D:3.80.10.10,PDB-ENSP_mappings:4i6j.B,hmmpanther:PTHR44224,hmmpanther:PTHR44224:SF2 0,1 HIGH 1 deletion 1 0,1 PASS ATAA . . 0.0001196 6.639e-05 0.0003432 0.0001445 0.0001453 0.0002031 0.000109 77007547 JPH4 . GRCh38 chr14 23575769 23575769 + Missense_Mutation SNP A A C rs866739281 7316-193 BS_JNFPEM6F A A c.1067T>G p.Val356Gly p.V356G ENST00000397118 4/7 40 19 16 57 56 1 JPH4,missense_variant,p.Val356Gly,ENST00000397118,NM_032452.2;JPH4,missense_variant,p.Val356Gly,ENST00000356300,NM_001146028.1;JPH4,missense_variant,p.Val357Gly,ENST00000622501,;JPH4,upstream_gene_variant,,ENST00000544177,;JPH4,non_coding_transcript_exon_variant,,ENST00000553505,; C ENSG00000092051 ENST00000397118 Transcript missense_variant 1970/4386 1067/1887 356/628 V/G gTt/gGt rs866739281,COSM4591628 1 -1 JPH4 HGNC HGNC:20156 protein_coding YES CCDS9603.1 ENSP00000380307 Q96JJ6 UPI00001C1F68 NM_032452.2 tolerated(0.17) probably_damaging(0.927) 4/7 Gene3D:2.20.110.10,PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF14 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 7.335e-05 0.0001111 3.472e-05 7.612e-05 7.094e-05 0.0001088 3.869e-05 23575769 LINC02310 . GRCh38 chr14 51393055 51393056 + Splice_Region INS - - A novel 7316-193 BS_JNFPEM6F - - n.287-7dup ENST00000556762 97 62 19 49 45 0 LINC02310,splice_region_variant,,ENST00000556762,; A ENSG00000258808 ENST00000556762 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 LINC02310 HGNC HGNC:53229 lincRNA YES 2/3 LOW 1 insertion 4 PASS AGA . . 51393055 PRSS41 . GRCh38 chr16 2799004 2799004 + Missense_Mutation SNP T T G novel 7316-193 BS_JNFPEM6F T T c.176T>G p.Val59Gly p.V59G ENST00000399677 2/5 36 19 13 30 30 0 PRSS41,missense_variant,p.Val59Gly,ENST00000399677,NM_001135086.1;SNORA3C,upstream_gene_variant,,ENST00000408792,; G ENSG00000215148 ENST00000399677 Transcript missense_variant 176/1127 176/957 59/318 V/G gTg/gGg 1 1 PRSS41 HGNC HGNC:30715 protein_coding YES ENSP00000492058 Q7RTY9 UPI00001BE924 NM_001135086.1 tolerated(0.36) benign(0.063) 2/5 cd00190,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24253,hmmpanther:PTHR24253:SF12 MODERATE 1 SNV 5 PASS GTG . . 2799004 NAGPA . GRCh38 chr16 5033339 5033339 + Missense_Mutation SNP A A C rs759659612 7316-193 BS_JNFPEM6F A A c.476T>G p.Val159Gly p.V159G ENST00000312251 2/10 39 19 18 34 32 1 NAGPA,missense_variant,p.Val159Gly,ENST00000312251,NM_016256.3;NAGPA,missense_variant,p.Val159Gly,ENST00000381955,;NAGPA,missense_variant,p.Val99Gly,ENST00000563578,;NAGPA,missense_variant,p.Val100Gly,ENST00000562346,;ALG1,upstream_gene_variant,,ENST00000588623,;NAGPA-AS1,intron_variant,,ENST00000588778,;NAGPA-AS1,upstream_gene_variant,,ENST00000632058,;NAGPA,splice_donor_variant,,ENST00000564922,;NAGPA,non_coding_transcript_exon_variant,,ENST00000591478,;NAGPA,upstream_gene_variant,,ENST00000568528,;NAGPA,upstream_gene_variant,,ENST00000569793,;NAGPA,splice_donor_variant,,ENST00000561580,;NAGPA,splice_donor_variant,,ENST00000562037,;NAGPA,missense_variant,p.Val159Gly,ENST00000562746,;NAGPA,missense_variant,p.Val7Gly,ENST00000569296,;NAGPA,non_coding_transcript_exon_variant,,ENST00000568202,;NAGPA,upstream_gene_variant,,ENST00000564397,;NAGPA,upstream_gene_variant,,ENST00000565876,;NAGPA,upstream_gene_variant,,ENST00000566137,;NAGPA,upstream_gene_variant,,ENST00000567739,;,regulatory_region_variant,,ENSR00000082894,; C ENSG00000103174 ENST00000312251 Transcript missense_variant 496/2202 476/1548 159/515 V/G gTg/gGg rs759659612,COSM4129105 1 -1 NAGPA HGNC HGNC:17378 protein_coding YES CCDS10527.1 ENSP00000310998 Q9UK23 UPI000013F295 NM_016256.3 benign(0.207) 2/10 hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF7,Pfam_domain:PF09992 0,1 MODERATE 1 SNV 1 0,1 PASS CAC . . 0.0004059 0.000415 0.0001851 0.0009379 0.001227 0.0004666 0.0002062 3.366e-05 5033339 CBLN1 . GRCh38 chr16 49281387 49281387 + Missense_Mutation SNP G G T rs200550358 7316-193 BS_JNFPEM6F G G c.79C>A p.Pro27Thr p.P27T ENST00000219197 1/3 56 46 7 44 43 0 CBLN1,missense_variant,p.Pro27Thr,ENST00000219197,NM_004352.3;CBLN1,missense_variant,p.Pro27Thr,ENST00000536749,;AC007614.1,upstream_gene_variant,,ENST00000564048,;AC007614.1,upstream_gene_variant,,ENST00000569877,;AC007614.1,upstream_gene_variant,,ENST00000623424,;AC007614.1,upstream_gene_variant,,ENST00000643467,;AC007614.1,upstream_gene_variant,,ENST00000647093,;AC007614.1,upstream_gene_variant,,ENST00000647485,;CBLN1,missense_variant,p.Pro27Thr,ENST00000564786,; T ENSG00000102924 ENST00000219197 Transcript missense_variant 445/2435 79/582 27/193 P/T Ccc/Acc rs200550358 1 -1 CBLN1 HGNC HGNC:1543 protein_coding YES CCDS10736.1 ENSP00000219197 P23435 UPI0000127506 NM_004352.3 deleterious_low_confidence(0) possibly_damaging(0.792) 1/3 PDB-ENSP_mappings:5kc6.A,PDB-ENSP_mappings:5kc6.B,PDB-ENSP_mappings:5kc6.C,PDB-ENSP_mappings:5kc7.A,PDB-ENSP_mappings:5kc7.B,PDB-ENSP_mappings:5kc7.C,PDB-ENSP_mappings:5kc7.D,hmmpanther:PTHR22923,hmmpanther:PTHR22923:SF5 MODERATE 1 SNV 1 PASS GGC . . 49281387 CTRL . GRCh38 chr16 67930016 67930016 + Frame_Shift_Del DEL T T - novel 7316-193 BS_JNFPEM6F T T c.713del p.Asn238ThrfsTer24 p.N238Tfs*24 ENST00000574481 7/7 69 59 5 45 45 0 CTRL,frameshift_variant,p.Asn238ThrfsTer24,ENST00000574481,NM_001907.2;CTRL,frameshift_variant,p.Thr170LeufsTer13,ENST00000571044,;PSKH1,downstream_gene_variant,,ENST00000291041,NM_006742.2;PSMB10,downstream_gene_variant,,ENST00000358514,NM_002801.3;CTRL,downstream_gene_variant,,ENST00000571605,;PSMB10,downstream_gene_variant,,ENST00000574576,;CTRL,upstream_gene_variant,,ENST00000573845,;CTRL,downstream_gene_variant,,ENST00000576408,;AC040162.1,non_coding_transcript_exon_variant,,ENST00000575231,;CTRL,non_coding_transcript_exon_variant,,ENST00000572144,;CTRL,non_coding_transcript_exon_variant,,ENST00000576915,;PSMB10,downstream_gene_variant,,ENST00000570985,;AC040162.1,downstream_gene_variant,,ENST00000573493,;CTRL,downstream_gene_variant,,ENST00000575302,; - ENSG00000141086 ENST00000574481 Transcript frameshift_variant 1275/1721 713/795 238/264 N/X aAc/ac 1 -1 CTRL HGNC HGNC:2524 protein_coding YES CCDS10852.1 ENSP00000458537 P40313 A0A024R6Z5 UPI0000128670 NM_001907.2 7/7 cd00190,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,PROSITE_profiles:PS50240,hmmpanther:PTHR24250:SF28,hmmpanther:PTHR24250 HIGH 1 deletion 1 PASS AGTT . . 67930015 TEFM . GRCh38 chr17 30900533 30900533 + Frame_Shift_Del DEL A A - novel 7316-193 BS_JNFPEM6F A A c.525del p.Phe175LeufsTer15 p.F175Lfs*15 ENST00000581216 3/4 97 83 6 35 33 0 TEFM,frameshift_variant,p.Phe175LeufsTer15,ENST00000580840,;TEFM,frameshift_variant,p.Phe175LeufsTer15,ENST00000581216,NM_024683.3;ATAD5,downstream_gene_variant,,ENST00000321990,NM_024857.4;AC130324.3,downstream_gene_variant,,ENST00000614165,;TEFM,upstream_gene_variant,,ENST00000579183,;TEFM,intron_variant,,ENST00000306049,;TEFM,downstream_gene_variant,,ENST00000541382,; - ENSG00000172171 ENST00000581216 Transcript frameshift_variant 1147/1891 525/1083 175/360 F/X ttT/tt 1 -1 TEFM HGNC HGNC:26223 protein_coding YES CCDS42291.1 ENSP00000462963 Q96QE5 UPI00000708D5 NM_024683.3 3/4 Gene3D:3.30.420.10,hmmpanther:PTHR21053,Superfamily_domains:SSF53098 HIGH 1 deletion 1 PASS CCAA . . 30900532 NPTX1 . GRCh38 chr17 80475633 80475633 + Missense_Mutation SNP A A C rs75699547 7316-193 BS_JNFPEM6F A A c.530T>G p.Val177Gly p.V177G ENST00000306773 2/5 47 27 18 41 40 0 NPTX1,missense_variant,p.Val177Gly,ENST00000306773,NM_002522.3;NPTX1,non_coding_transcript_exon_variant,,ENST00000575212,;NPTX1,non_coding_transcript_exon_variant,,ENST00000571100,;NPTX1,upstream_gene_variant,,ENST00000535681,;,regulatory_region_variant,,ENSR00000099212,; C ENSG00000171246 ENST00000306773 Transcript missense_variant 688/5122 530/1299 177/432 V/G gTg/gGg rs75699547,COSM4130784 1 -1 NPTX1 HGNC HGNC:7952 protein_coding YES CCDS32762.1 ENSP00000307549 Q15818 UPI000013EB88 NM_002522.3 deleterious(0) probably_damaging(0.996) 2/5 Gene3D:1.20.1170.10,hmmpanther:PTHR19277:SF24,hmmpanther:PTHR19277 0,1 MODERATE 1 SNV 1 0,1 PASS CAC . . 0.005937 0.009118 0.003651 0.007789 0.00342 0.008341 0.007417 0.004078 0.001565 80475633 DMKN . GRCh38 chr19 35511479 35511479 + Missense_Mutation SNP C C T rs12981076 7316-193 BS_JNFPEM6F C C c.850G>A p.Gly284Ser p.G284S ENST00000339686 5/16 32 14 6 28 24 0 DMKN,missense_variant,p.Gly284Ser,ENST00000339686,NM_033317.4;DMKN,missense_variant,p.Gly284Ser,ENST00000447113,NM_001190348.1;DMKN,missense_variant,p.Gly284Ser,ENST00000424570,NM_001126057.2;DMKN,missense_variant,p.Gly284Ser,ENST00000418261,NM_001126058.2;DMKN,missense_variant,p.Gly284Ser,ENST00000451297,NM_001190349.1;DMKN,intron_variant,,ENST00000419602,NM_001126056.2;DMKN,intron_variant,,ENST00000429837,NM_001190347.1;DMKN,upstream_gene_variant,,ENST00000392206,;DMKN,upstream_gene_variant,,ENST00000402589,NM_001308380.1;DMKN,upstream_gene_variant,,ENST00000414866,NM_001126059.2;DMKN,upstream_gene_variant,,ENST00000434389,;DMKN,upstream_gene_variant,,ENST00000436012,NM_001308383.1;DMKN,upstream_gene_variant,,ENST00000443640,;DMKN,upstream_gene_variant,,ENST00000450261,;DMKN,upstream_gene_variant,,ENST00000458071,;DMKN,upstream_gene_variant,,ENST00000461300,;DMKN,upstream_gene_variant,,ENST00000467637,;DMKN,upstream_gene_variant,,ENST00000472252,;DMKN,upstream_gene_variant,,ENST00000474928,;DMKN,upstream_gene_variant,,ENST00000480502,;DMKN,upstream_gene_variant,,ENST00000488892,;DMKN,upstream_gene_variant,,ENST00000492341,;DMKN,upstream_gene_variant,,ENST00000602679,;DMKN,upstream_gene_variant,,ENST00000602781,;DMKN,upstream_gene_variant,,ENST00000462126,;DMKN,upstream_gene_variant,,ENST00000474992,;DMKN,upstream_gene_variant,,ENST00000476051,;DMKN,upstream_gene_variant,,ENST00000460051,;DMKN,upstream_gene_variant,,ENST00000462538,;DMKN,upstream_gene_variant,,ENST00000462721,;DMKN,upstream_gene_variant,,ENST00000463292,;DMKN,upstream_gene_variant,,ENST00000464709,;DMKN,upstream_gene_variant,,ENST00000464894,;DMKN,upstream_gene_variant,,ENST00000465927,;DMKN,upstream_gene_variant,,ENST00000467532,;DMKN,upstream_gene_variant,,ENST00000470746,;DMKN,upstream_gene_variant,,ENST00000470857,;DMKN,upstream_gene_variant,,ENST00000471786,;DMKN,upstream_gene_variant,,ENST00000472065,;DMKN,upstream_gene_variant,,ENST00000476246,;DMKN,upstream_gene_variant,,ENST00000480507,NM_001352332.1;DMKN,upstream_gene_variant,,ENST00000482321,;DMKN,upstream_gene_variant,,ENST00000483855,;DMKN,upstream_gene_variant,,ENST00000486450,;DMKN,upstream_gene_variant,,ENST00000488542,;DMKN,upstream_gene_variant,,ENST00000488762,;DMKN,upstream_gene_variant,,ENST00000489395,;DMKN,upstream_gene_variant,,ENST00000490622,;DMKN,upstream_gene_variant,,ENST00000493517,;DMKN,upstream_gene_variant,,ENST00000493979,;DMKN,upstream_gene_variant,,ENST00000498211,;DMKN,upstream_gene_variant,,ENST00000498269,;DMKN,upstream_gene_variant,,ENST00000498593,;DMKN,upstream_gene_variant,,ENST00000595571,;DMKN,upstream_gene_variant,,ENST00000597212,; T ENSG00000161249 ENST00000339686 Transcript missense_variant 1027/1927 850/1431 284/476 G/S Ggc/Agc rs12981076,COSM4131674,COSM4131673 1 -1 DMKN HGNC HGNC:25063 protein_coding YES CCDS12463.1 ENSP00000342012 Q6E0U4 UPI00002020EB NM_033317.4 tolerated_low_confidence(0.57) benign(0.001) 5/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR36881 0.2588 0.4531 0.2133 0.2679 0.0924 0.1902 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCG . . 35511479 KMT2B . GRCh38 chr19 35732210 35732210 + Splice_Region SNP C C A rs61351824 7316-193 BS_JNFPEM6F C C c.5666-5C>A ENST00000420124 74 69 5 32 31 0 KMT2B,splice_region_variant,,ENST00000420124,NM_014727.2;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000592092,; A ENSG00000272333 ENST00000420124 Transcript splice_region_variant,intron_variant rs61351824,COSM3766323 1 1 KMT2B HGNC HGNC:15840 protein_coding YES CCDS46055.1 ENSP00000398837 Q9UMN6 UPI00001376B5 NM_014727.2 27/36 0.1030 0.087 0.1037 0.0883 0.1213 0.1207 0,1 LOW 1 SNV 1 0,1 1 PASS CCA . . 0.1116 0.09221 0.1098 0.06296 0.09517 0.184 0.1061 0.1001 0.1152 35732210 FRG1EP . GRCh38 chr20 29485736 29485736 + Splice_Region SNP T T A rs1428040560 7316-193 BS_JNFPEM6F T T n.531+6A>T ENST00000634469 126 81 45 50 49 0 FRG1EP,splice_region_variant,,ENST00000634469,; A ENSG00000282995 ENST00000634469 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1428040560 1 -1 FRG1EP HGNC HGNC:51764 unprocessed_pseudogene YES 6/8 LOW 1 SNV PASS ATT . . 29485736 FRG1EP . GRCh38 chr20 29485739 29485739 + Splice_Region SNP T T C rs1190776325 7316-193 BS_JNFPEM6F T T n.531+3A>G ENST00000634469 110 80 30 50 49 0 FRG1EP,splice_region_variant,,ENST00000634469,; C ENSG00000282995 ENST00000634469 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1190776325 1 -1 FRG1EP HGNC HGNC:51764 unprocessed_pseudogene YES 6/8 LOW 1 SNV PASS ATC . . 29485739 C2CD2 . GRCh38 chr21 41953404 41953404 + Missense_Mutation SNP A A C rs752694497 7316-193 BS_JNFPEM6F A A c.245T>G p.Val82Gly p.V82G ENST00000380486 1/14 34 9 21 26 26 0 C2CD2,missense_variant,p.Val82Gly,ENST00000380486,NM_015500.1;C2CD2,non_coding_transcript_exon_variant,,ENST00000478372,;,regulatory_region_variant,,ENSR00000142649,; C ENSG00000157617 ENST00000380486 Transcript missense_variant 487/6345 245/2091 82/696 V/G gTg/gGg rs752694497 1 -1 C2CD2 HGNC HGNC:1266 protein_coding YES CCDS42933.1 ENSP00000369853 Q9Y426 UPI0000206BBE NM_015500.1 deleterious(0) possibly_damaging(0.69) 1/14 hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF7 MODERATE 1 SNV 1 PASS CAC . . 41953404 SLC9B1P4 . GRCh38 chr22 16439308 16439308 + Splice_Region DEL A A - novel 7316-193 BS_JNFPEM6F A A n.695+5del ENST00000421957 70 54 8 42 37 0 SLC9B1P4,splice_region_variant,,ENST00000421957,; - ENSG00000227367 ENST00000421957 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant 1 -1 SLC9B1P4 HGNC HGNC:43583 unprocessed_pseudogene YES 5/8 LOW 1 deletion PASS ACAA . . 16439307 SNAP29 . GRCh38 chr22 20859256 20859256 + Missense_Mutation SNP T T G rs778000081 7316-193 BS_JNFPEM6F T T c.146T>G p.Val49Gly p.V49G ENST00000215730 1/5 38 26 11 42 42 0 SNAP29,missense_variant,p.Val49Gly,ENST00000215730,NM_004782.3;PI4KA,5_prime_UTR_variant,,ENST00000449120,;PI4KA,upstream_gene_variant,,ENST00000255882,NM_058004.3;SNAP29,upstream_gene_variant,,ENST00000439214,;SNAP29,non_coding_transcript_exon_variant,,ENST00000490458,;PI4KA,upstream_gene_variant,,ENST00000485963,;,regulatory_region_variant,,ENSR00000143944,; G ENSG00000099940 ENST00000215730 Transcript missense_variant 274/4287 146/777 49/258 V/G gTc/gGc rs778000081 1 1 SNAP29 HGNC HGNC:11133 protein_coding YES CCDS13784.1 ENSP00000215730 O95721 UPI0000135B00 NM_004782.3 deleterious(0) probably_damaging(0.997) 1/5 PDB-ENSP_mappings:4wy4.C,cd15887,hmmpanther:PTHR19305,hmmpanther:PTHR19305:SF9,Gene3D:1.20.5.110,SMART_domains:SM00397,Superfamily_domains:SSF58038 MODERATE 1 SNV 1 1 PASS GTC . . 2.91e-05 6.745e-05 5.376e-05 2.253e-05 3.483e-05 20859256 TRIOBP . GRCh38 chr22 37723875 37723877 + In_Frame_Del DEL CCT CCT - rs761571221 7316-193 BS_JNFPEM6F CCT CCT c.1323_1325del p.Ser442del p.S442del ENST00000406386 7/24 88 56 26 34 32 0 TRIOBP,inframe_deletion,p.Ser442del,ENST00000406386,NM_001039141.2;TRIOBP,inframe_deletion,p.Ser442del,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; - ENSG00000100106 ENST00000406386 Transcript inframe_deletion 1590-1592/10145 1319-1321/7098 440-441/2365 AS/A gCCTcc/gcc rs761571221 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271:SF10,mobidb-lite 0.002204 0.001273 MODERATE 1 deletion 5 4 1 PASS AGCCTC . . 37723874 TRIOBP . GRCh38 chr22 37724189 37724189 + Missense_Mutation SNP G G A novel 7316-193 BS_JNFPEM6F G G c.1633G>A p.Ala545Thr p.A545T ENST00000406386 7/24 98 79 12 38 34 0 TRIOBP,missense_variant,p.Ala545Thr,ENST00000406386,NM_001039141.2;TRIOBP,missense_variant,p.Ala545Thr,ENST00000644935,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;Z83844.1,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,; A ENSG00000100106 ENST00000406386 Transcript missense_variant 1904/10145 1633/7098 545/2365 A/T Gca/Aca 1 1 TRIOBP HGNC HGNC:17009 protein_coding YES CCDS43015.1 ENSP00000384312 Q9H2D6 UPI000067CB88 NM_001039141.2 tolerated_low_confidence(1) benign(0) 7/24 hmmpanther:PTHR17271,hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10,hmmpanther:PTHR17271:SF10,mobidb-lite MODERATE 1 SNV 5 1 PASS TGC . . 37724189 ASMT . GRCh38 chrX 1633210 1633210 + Frame_Shift_Del DEL T T - novel 7316-193 BS_JNFPEM6F T T c.711del p.Phe237LeufsTer73 p.F237Lfs*73 ENST00000381241 7/9 67 56 5 38 38 0 ASMT,frameshift_variant,p.Phe237LeufsTer73,ENST00000381241,NM_001171038.1,NM_004043.2;ASMT,frameshift_variant,p.Phe209LeufsTer73,ENST00000381229,;ASMT,intron_variant,,ENST00000381233,NM_001171039.1;ASMT,upstream_gene_variant,,ENST00000432523,;ASMT,intron_variant,,ENST00000509780,; - ENSG00000196433 ENST00000381241 Transcript frameshift_variant 906/1388 707/1122 236/373 V/X gTt/gt 1 1 ASMT HGNC HGNC:750 protein_coding YES CCDS14117.1 ENSP00000370639 P46597 A0A024RBT9 UPI00001AEDD0 NM_001171038.1,NM_004043.2 7/9 PROSITE_profiles:PS51683,cd02440,hmmpanther:PTHR11746:SF119,hmmpanther:PTHR11746,PIRSF_domain:PIRSF005739,Gene3D:3.40.50.150,Pfam_domain:PF00891,Superfamily_domains:SSF53335 HIGH 1 deletion 1 4 PASS CGTT . . 1633209 ACE2 . GRCh38 chrX 15589463 15589464 + Splice_Region INS - - T rs776459296 7316-193 BS_JNFPEM6F - - c.584-8dup ENST00000427411 45 24 9 14 14 0 ACE2,splice_region_variant,,ENST00000252519,;ACE2,splice_region_variant,,ENST00000427411,NM_021804.2; T ENSG00000130234 ENST00000427411 Transcript splice_region_variant,intron_variant rs776459296,TMP_ESP_X_15607587_15607587 1 -1 ACE2 HGNC HGNC:13557 protein_coding YES CCDS14169.1 ENSP00000389326 Q9BYF1 UPI000000D907 NM_021804.2 5/18 0.01102 0.0054 LOW 1 insertion 1 PASS TGT . . 0.05789 0.05739 0.1019 0.1176 0.06822 0.04152 0.04223 0.08017 0.07851 15589463 ARMCX2 . GRCh38 chrX 101657461 101657461 + Frame_Shift_Del DEL T T - novel 7316-193 BS_JNFPEM6F T T c.128del p.Asn43ThrfsTer15 p.N43Tfs*15 ENST00000328766 5/5 57 45 5 26 25 0 ARMCX2,frameshift_variant,p.Asn43ThrfsTer15,ENST00000328766,NM_014782.6;ARMCX2,frameshift_variant,p.Asn43ThrfsTer15,ENST00000356824,NM_177949.3,NM_001282231.1;ARMCX2,frameshift_variant,p.Asn43ThrfsTer15,ENST00000330154,;ARMCX2,frameshift_variant,p.Asn43ThrfsTer15,ENST00000413506,;ARMCX2,frameshift_variant,p.Asn43ThrfsTer15,ENST00000433318,;ARMCX2,frameshift_variant,p.Asn43ThrfsTer15,ENST00000440675,;ARMCX2,frameshift_variant,p.Asn43ThrfsTer15,ENST00000458024,;ARMCX2,frameshift_variant,p.Asn43ThrfsTer15,ENST00000431597,;ARMCX2,non_coding_transcript_exon_variant,,ENST00000467416,;ARMCX2,downstream_gene_variant,,ENST00000475854,;ARMCX2,downstream_gene_variant,,ENST00000479333,;ARMCX2,downstream_gene_variant,,ENST00000488982,;ARMCX2,downstream_gene_variant,,ENST00000496581,; - ENSG00000184867 ENST00000328766 Transcript frameshift_variant 582/2762 128/1899 43/632 N/X aAc/ac 1 -1 ARMCX2 HGNC HGNC:16869 protein_coding YES CCDS14490.1 ENSP00000331662 Q7L311 A0A024RCG7 UPI0000071305 NM_014782.6 5/5 hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF9 HIGH 1 deletion 1 PASS GGTT . . 101657460 AC134878.2 . GRCh38 chrY 11157053 11157053 + Splice_Site SNP C C T rs77845545 7316-193 BS_JNFPEM6F C C n.547+1G>A ENST00000620700 62 41 19 19 19 0 AC134878.2,splice_donor_variant,,ENST00000620700,; T ENSG00000278212 ENST00000620700 Transcript splice_donor_variant,non_coding_transcript_variant rs77845545 1 -1 AC134878.2 Clone_based_ensembl_gene unprocessed_pseudogene YES 2/5 HIGH 1 SNV PASS CCG . . 11157053 SLC5A9 . GRCh38 chr1 48231584 48231584 + Missense_Mutation SNP C C T rs147266128 7316-485 BS_KRYAZ09R C C c.725C>T p.Thr242Met p.T242M ENST00000236495 7/15 79 72 6 47 47 0 SLC5A9,missense_variant,p.Thr242Met,ENST00000236495,NM_001135181.1;SLC5A9,missense_variant,p.Thr217Met,ENST00000438567,NM_001011547.2;SLC5A9,missense_variant,p.Thr238Met,ENST00000533824,;AL109659.2,upstream_gene_variant,,ENST00000606809,;SLC5A9,missense_variant,p.Thr217Met,ENST00000425816,;SLC5A9,3_prime_UTR_variant,,ENST00000441260,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000493837,;SLC5A9,downstream_gene_variant,,ENST00000527929,; T ENSG00000117834 ENST00000236495 Transcript missense_variant 775/3272 725/2121 242/706 T/M aCg/aTg rs147266128,COSM4754680,COSM3490554 1 1 SLC5A9 HGNC HGNC:22146 protein_coding YES CCDS44136.1 ENSP00000236495 Q2M3M2 UPI0000251D94 NM_001135181.1 deleterious(0) probably_damaging(0.999) 7/15 Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF96,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix,cd11488 0.0004 0.001 0.001 0.000227 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS ACG . . 3.25e-05 2.978e-05 0.000174 3.583e-05 48231584 HS6ST1 . GRCh38 chr2 128318303 128318303 + Missense_Mutation SNP G G T rs200979099 7316-485 BS_KRYAZ09R G G c.261C>A p.Asp87Glu p.D87E ENST00000259241 1/2 43 34 8 38 37 0 HS6ST1,missense_variant,p.Asp87Glu,ENST00000259241,NM_004807.2;HS6ST1,non_coding_transcript_exon_variant,,ENST00000494089,;HS6ST1,non_coding_transcript_exon_variant,,ENST00000469019,;,regulatory_region_variant,,ENSR00000122968,; T ENSG00000136720 ENST00000259241 Transcript missense_variant 275/3932 261/1236 87/411 D/E gaC/gaA rs200979099,COSM1481920 1 -1 HS6ST1 HGNC HGNC:5201 protein_coding YES CCDS42748.1 ENSP00000259241 O60243 UPI0000D61231 NM_004807.2 deleterious(0) probably_damaging(0.991) 1/2 Gene3D:3.40.50.300,Pfam_domain:PF03567,hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF1,Superfamily_domains:SSF52540 0,1 MODERATE 1 SNV 1 0,1 1 PASS CGT . . 0.4245 0.2281 0.4377 0.4416 0.4083 0.4721 0.4525 0.4267 0.3538 128318303 PPIG . GRCh38 chr2 169636717 169636717 + Missense_Mutation SNP T T A novel 7316-485 BS_KRYAZ09R T T c.1459T>A p.Ser487Thr p.S487T ENST00000260970 14/14 91 79 6 27 27 0 PPIG,missense_variant,p.Ser487Thr,ENST00000260970,NM_004792.2;PPIG,missense_variant,p.Ser472Thr,ENST00000409714,;PPIG,missense_variant,p.Ser487Thr,ENST00000448752,;PPIG,missense_variant,p.Ser480Thr,ENST00000433207,;PPIG,downstream_gene_variant,,ENST00000462903,;PPIG,non_coding_transcript_exon_variant,,ENST00000482772,;PPIG,downstream_gene_variant,,ENST00000466142,; A ENSG00000138398 ENST00000260970 Transcript missense_variant 1679/6368 1459/2265 487/754 S/T Tca/Aca 1 1 PPIG HGNC HGNC:14650 protein_coding YES CCDS2235.1 ENSP00000260970 Q13427 UPI000013D124 NM_004792.2 deleterious(0) benign(0.321) 14/14 hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF292,mobidb-lite MODERATE 1 SNV 1 PASS GTC . . 169636717 HLA-C . GRCh38 chr6 31272025 31272025 + Missense_Mutation SNP C C G rs1050451 7316-485 BS_KRYAZ09R C C c.47G>C p.Gly16Ala p.G16A ENST00000376228 1/8 33 24 8 23 21 1 HLA-C,missense_variant,p.Gly16Ala,ENST00000383329,;HLA-C,missense_variant,p.Gly16Ala,ENST00000376228,NM_002117.5;HLA-C,missense_variant,p.Gly16Ala,ENST00000415537,;HLA-C,5_prime_UTR_variant,,ENST00000640219,;HLA-B,intron_variant,,ENST00000640615,;HLA-C,missense_variant,p.Gly16Ala,ENST00000376237,;HLA-C,non_coding_transcript_exon_variant,,ENST00000487245,;HLA-C,non_coding_transcript_exon_variant,,ENST00000495835,;HLA-C,non_coding_transcript_exon_variant,,ENST00000484378,;HLA-C,upstream_gene_variant,,ENST00000466892,;HLA-C,upstream_gene_variant,,ENST00000470363,;,regulatory_region_variant,,ENSR00000195522,;USP8P1,upstream_gene_variant,,ENST00000494673,; G ENSG00000204525 ENST00000376228 Transcript missense_variant 62/1536 47/1101 16/366 G/A gGc/gCc rs1050451,COSM4160773,COSM4160772,COSM4160771 1 -1 HLA-C HGNC HGNC:4933 protein_coding YES CCDS34393.1 ENSP00000365402 P10321 Q6R739 UPI000008AEBB NM_002117.5 tolerated_low_confidence(1) benign(0) 1/8 hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF186,Cleavage_site_(Signalp):SignalP-noTM,Low_complexity_(Seg):seg 0.7782 0.7867 0.8184 0.8135 0.7266 0.7546 0.7578 0.6857 0,1,1,1 28878392,28955865 MODERATE 1 SNV 1,1,1,1 1 PASS GCC . . 0.7312 0.7794 0.7537 0.8718 0.8051 0.7161 0.6879 0.7517 0.7582 31272025 SVIL . GRCh38 chr10 29490918 29490918 + Missense_Mutation SNP A A C rs199726033 7316-485 BS_KRYAZ09R A A c.4121T>G p.Leu1374Arg p.L1374R ENST00000355867 22/38 75 60 14 39 36 1 SVIL,missense_variant,p.Leu1342Arg,ENST00000375398,;SVIL,missense_variant,p.Leu1374Arg,ENST00000355867,NM_001323599.1,NM_021738.2;SVIL,missense_variant,p.Leu948Arg,ENST00000375400,NM_001323600.1,NM_003174.3;SVIL,missense_variant,p.Leu300Arg,ENST00000632315,;SVIL,non_coding_transcript_exon_variant,,ENST00000474106,;SVIL-AS1,downstream_gene_variant,,ENST00000413405,;SVIL,upstream_gene_variant,,ENST00000482607,;SVIL,downstream_gene_variant,,ENST00000491872,; C ENSG00000197321 ENST00000355867 Transcript missense_variant 4874/7586 4121/6645 1374/2214 L/R cTc/cGc rs199726033,COSM146919 1 -1 SVIL HGNC HGNC:11480 protein_coding YES CCDS7164.1 ENSP00000348128 O95425 UPI0000366678 NM_001323599.1,NM_021738.2 deleterious(0) possibly_damaging(0.506) 22/38 hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF45 0,1 MODERATE 1 SNV 1 0,1 PASS GAG . . 0.1071 0.01054 0.06654 0.2243 0.01734 0.1831 0.1105 0.1149 0.1928 29490918 DCLRE1A . GRCh38 chr10 113849358 113849358 + Missense_Mutation SNP T T C novel 7316-485 BS_KRYAZ09R T T c.1747A>G p.Ile583Val p.I583V ENST00000361384 2/9 85 72 10 49 46 0 DCLRE1A,missense_variant,p.Ile583Val,ENST00000361384,NM_014881.4;DCLRE1A,missense_variant,p.Ile583Val,ENST00000369305,NM_001271816.1;DCLRE1A,downstream_gene_variant,,ENST00000476112,; C ENSG00000198924 ENST00000361384 Transcript missense_variant 2665/4468 1747/3123 583/1040 I/V Ata/Gta 1 -1 DCLRE1A HGNC HGNC:17660 protein_coding YES CCDS7584.1 ENSP00000355185 Q6PJP8 UPI000006EFFE NM_014881.4 tolerated(0.3) benign(0) 2/9 mobidb-lite MODERATE 1 SNV 1 PASS ATC . . 113849358 DGKZ . GRCh38 chr11 46347717 46347717 + Missense_Mutation SNP G G A rs114974750 7316-485 BS_KRYAZ09R G G c.58G>A p.Ala20Thr p.A20T ENST00000456247 1/31 64 53 10 40 40 0 DGKZ,missense_variant,p.Ala20Thr,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Ala20Thr,ENST00000421244,NM_003646.3;DGKZ,intron_variant,,ENST00000343674,NM_201532.2;DGKZ,intron_variant,,ENST00000525242,;DGKZ,intron_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Ala20Thr,ENST00000533376,;DGKZ,intron_variant,,ENST00000524984,;DGKZ,intron_variant,,ENST00000527674,;DGKZ,intron_variant,,ENST00000531879,;,regulatory_region_variant,,ENSR00000039527,;,TF_binding_site_variant,,MA0062.2,; A ENSG00000149091 ENST00000456247 Transcript missense_variant 146/3482 58/2787 20/928 A/T Gcc/Acc rs114974750,COSM4145731 1 1 DGKZ HGNC HGNC:2857 protein_coding CCDS55759.1 ENSP00000395684 Q13574 UPI000002ACAE NM_001199267.1 deleterious_low_confidence(0.03) probably_damaging(0.982) 1/31 mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE SNV 1 0,1 PASS CGC . . 0.4767 0.35 0.4856 0.4749 0.4896 0.4884 0.484 0.4752 0.4585 46347717 APOA5 . GRCh38 chr11 116790259 116790259 + Missense_Mutation SNP A A G novel 7316-485 BS_KRYAZ09R A A c.970T>C p.Phe324Leu p.F324L ENST00000542499 4/4 68 59 6 46 45 0 APOA5,missense_variant,p.Phe324Leu,ENST00000542499,NM_052968.4,NM_001166598.1;APOA5,missense_variant,p.Phe324Leu,ENST00000227665,;ZPR1,upstream_gene_variant,,ENST00000227322,NM_003904.4,NM_001317086.1;ZPR1,upstream_gene_variant,,ENST00000429220,;APOA5,downstream_gene_variant,,ENST00000433069,;ZPR1,upstream_gene_variant,,ENST00000444935,;ZPR1,upstream_gene_variant,,ENST00000425791,;ZPR1,upstream_gene_variant,,ENST00000431973,;ZPR1,upstream_gene_variant,,ENST00000449430,;ZPR1,upstream_gene_variant,,ENST00000487030,;ZPR1,upstream_gene_variant,,ENST00000498065,; G ENSG00000110243 ENST00000542499 Transcript missense_variant 1043/1929 970/1101 324/366 F/L Ttc/Ctc 1 -1 APOA5 HGNC HGNC:17288 protein_coding YES CCDS8376.2 ENSP00000445002 Q6Q788 A0A0B4RUS7 UPI00000361EF NM_052968.4,NM_001166598.1 deleterious(0.04) possibly_damaging(0.714) 4/4 hmmpanther:PTHR18976:SF13,hmmpanther:PTHR18976 MODERATE SNV 5 1 PASS AAG . . 116790259 MUC19 . GRCh38 chr12 40503717 40503717 + Splice_Region SNP C C T rs796932347 7316-485 BS_KRYAZ09R C C n.19048C>T ENST00000454784 68/173 70 64 6 49 47 1 MUC19,splice_region_variant,,ENST00000454784,NM_173600.2; T ENSG00000205592 ENST00000454784 Transcript splice_region_variant,non_coding_transcript_exon_variant 19048/24829 rs796932347 1 1 MUC19 HGNC HGNC:14362 processed_transcript NM_173600.2 68/173 LOW 1 SNV 5 PASS GCA . . 40503717 R3HDM2 . GRCh38 chr12 57280422 57280424 + In_Frame_Del DEL TGC TGC - rs763385062 7316-485 BS_KRYAZ09R TGC TGC c.1236_1238del p.Gln413del p.Q413del ENST00000403821 13/24 72 63 5 48 43 0 R3HDM2,inframe_deletion,p.Gln427del,ENST00000402412,;R3HDM2,inframe_deletion,p.Gln413del,ENST00000347140,;R3HDM2,inframe_deletion,p.Gln403del,ENST00000634871,NM_001330123.1;R3HDM2,inframe_deletion,p.Gln74del,ENST00000441731,NM_001330121.1,NM_001330122.1;R3HDM2,inframe_deletion,p.Gln413del,ENST00000358907,NM_014925.3;R3HDM2,inframe_deletion,p.Gln413del,ENST00000403821,;R3HDM2,inframe_deletion,p.Gln178del,ENST00000429355,;R3HDM2,downstream_gene_variant,,ENST00000547262,;AC137834.1,3_prime_UTR_variant,,ENST00000548184,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000393811,;R3HDM2,downstream_gene_variant,,ENST00000547019,;,regulatory_region_variant,,ENSR00000052645,;,TF_binding_site_variant,,MA0473.1,; - ENSG00000179912 ENST00000403821 Transcript inframe_deletion 1533-1535/3347 1236-1238/3033 412-413/1010 QQ/Q caGCAa/caa rs763385062,COSM5092633,COSM1724822,COSM1724821 1 -1 R3HDM2 HGNC HGNC:29167 protein_coding YES CCDS81703.1 ENSP00000385169 B5MCG9 UPI00020CE2F4 13/24 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF13 0,1,1,1 MODERATE deletion 5 0,1,1,1 PASS GTTGCT . . 0.0005618 0.0004841 0.0007105 0.0003305 0.0002529 0.000424 0.0005145 0.0005986 0.0009545 57280421 RBM25 . GRCh38 chr14 73105899 73105900 + Frame_Shift_Del DEL AG AG - rs150988201 7316-485 BS_KRYAZ09R AG AG c.1210_1211del p.Glu404ThrfsTer33 p.E404Tfs*33 ENST00000261973 11/19 58 49 5 38 32 0 RBM25,frameshift_variant,p.Glu404ThrfsTer33,ENST00000261973,NM_021239.2;RBM25,frameshift_variant,p.Glu404ThrfsTer33,ENST00000527432,;RBM25,downstream_gene_variant,,ENST00000525321,;RBM25,downstream_gene_variant,,ENST00000526754,;RBM25,downstream_gene_variant,,ENST00000532192,;RBM25,upstream_gene_variant,,ENST00000532483,;RBM25,3_prime_UTR_variant,,ENST00000528081,;RBM25,non_coding_transcript_exon_variant,,ENST00000532683,;RBM25,upstream_gene_variant,,ENST00000527449,;RBM25,upstream_gene_variant,,ENST00000530978,; - ENSG00000119707 ENST00000261973 Transcript frameshift_variant 1480-1481/6910 1195-1196/2532 399/843 R/X AGa/a rs150988201,COSM1370919 1 1 RBM25 HGNC HGNC:23244 protein_coding YES CCDS32113.1 ENSP00000261973 P49756 UPI0000373D58 NM_021239.2 11/19 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18806,hmmpanther:PTHR18806:SF4 0,1 HIGH 1 deletion 1 15 0,1 PASS AAAGA . . 0.03846 0.03692 0.06986 0.04223 0.05479 0.007073 0.03394 0.04309 0.05103 73105898 CDIP1 . GRCh38 chr16 4513022 4513022 + Missense_Mutation SNP T T G novel 7316-485 BS_KRYAZ09R T T c.284A>C p.Tyr95Ser p.Y95S ENST00000399599 4/5 70 57 6 35 32 1 CDIP1,missense_variant,p.Tyr95Ser,ENST00000399599,;CDIP1,missense_variant,p.Tyr95Ser,ENST00000563332,NM_001199054.1;CDIP1,missense_variant,p.Tyr95Ser,ENST00000567695,NM_013399.2;CDIP1,missense_variant,p.Tyr60Ser,ENST00000588381,;CDIP1,missense_variant,p.Tyr60Ser,ENST00000563186,;CDIP1,intron_variant,,ENST00000562334,NM_001199056.1;CDIP1,intron_variant,,ENST00000562579,;CDIP1,intron_variant,,ENST00000563507,NM_001199055.1;CDIP1,intron_variant,,ENST00000564828,;CDIP1,intron_variant,,ENST00000589890,;HMOX2,downstream_gene_variant,,ENST00000219700,;HMOX2,downstream_gene_variant,,ENST00000398595,NM_001286270.1;HMOX2,downstream_gene_variant,,ENST00000406590,NM_001127206.2;HMOX2,downstream_gene_variant,,ENST00000414777,NM_001127205.1;HMOX2,downstream_gene_variant,,ENST00000458134,NM_001127204.1;CDIP1,downstream_gene_variant,,ENST00000566234,;HMOX2,downstream_gene_variant,,ENST00000570445,;HMOX2,downstream_gene_variant,,ENST00000570622,;HMOX2,downstream_gene_variant,,ENST00000570646,;HMOX2,downstream_gene_variant,,ENST00000575051,;HMOX2,downstream_gene_variant,,ENST00000575120,NM_001286271.1;CDIP1,downstream_gene_variant,,ENST00000586728,;HMOX2,downstream_gene_variant,,ENST00000613539,NM_001286267.1;HMOX2,downstream_gene_variant,,ENST00000619528,NM_001286269.1;HMOX2,downstream_gene_variant,,ENST00000619913,NM_001286268.1,NM_002134.3;CDIP1,intron_variant,,ENST00000589159,; G ENSG00000089486 ENST00000399599 Transcript missense_variant 833/3009 284/627 95/208 Y/S tAc/tCc 1 -1 CDIP1 HGNC HGNC:13234 protein_coding YES CCDS42114.1 ENSP00000382508 Q9H305 UPI00000711C0 tolerated(0.27) benign(0.099) 4/5 hmmpanther:PTHR23292,hmmpanther:PTHR23292:SF7,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTA . . 4513022 GEMIN4 . GRCh38 chr17 746800 746800 + Missense_Mutation SNP T T C novel 7316-485 BS_KRYAZ09R T T c.1243A>G p.Met415Val p.M415V ENST00000319004 2/2 64 57 6 43 42 0 GEMIN4,missense_variant,p.Met404Val,ENST00000576778,;GEMIN4,missense_variant,p.Met415Val,ENST00000319004,NM_015721.2;GEMIN4,3_prime_UTR_variant,,ENST00000437269,;FAM57A,downstream_gene_variant,,ENST00000301324,NM_001318006.1;FAM57A,downstream_gene_variant,,ENST00000308278,NM_024792.2,NM_001318007.1;GEMIN4,downstream_gene_variant,,ENST00000570364,;GEMIN4,downstream_gene_variant,,ENST00000573482,;GEMIN4,downstream_gene_variant,,ENST00000574958,;GEMIN4,downstream_gene_variant,,ENST00000576383,;FAM57A,downstream_gene_variant,,ENST00000577008,;FAM57A,downstream_gene_variant,,ENST00000570892,;FAM57A,downstream_gene_variant,,ENST00000570699,; C ENSG00000179409 ENST00000319004 Transcript missense_variant 1362/3748 1243/3177 415/1058 M/V Atg/Gtg 1 -1 GEMIN4 HGNC HGNC:15717 protein_coding YES CCDS45559.1 ENSP00000321706 P57678 UPI000020001F NM_015721.2 deleterious(0.01) possibly_damaging(0.487) 2/2 hmmpanther:PTHR15571 MODERATE 1 SNV 1 1 PASS ATC . . 746800 WDR62 . GRCh38 chr19 36099427 36099427 + Missense_Mutation SNP T T C rs2285745 7316-485 BS_KRYAZ09R T T c.2549T>C p.Leu850Ser p.L850S ENST00000401500 22/32 70 27 41 28 22 3 WDR62,missense_variant,p.Leu850Ser,ENST00000401500,NM_001083961.1;WDR62,missense_variant,p.Leu850Ser,ENST00000270301,NM_173636.4;WDR62,3_prime_UTR_variant,,ENST00000587391,; C ENSG00000075702 ENST00000401500 Transcript missense_variant 2584/4682 2549/4572 850/1523 L/S tTg/tCg rs2285745,COSM4131728 1 1 WDR62 HGNC HGNC:24502 protein_coding YES CCDS46059.1 ENSP00000384792 O43379 UPI000022A7E9 NM_001083961.1 tolerated(1) benign(0) 22/32 hmmpanther:PTHR44813,Low_complexity_(Seg):seg 0.6542 0.7557 0.7061 0.6101 0.675 0.5041 0.7206 0.6493 benign,likely_benign 0,1 25741868,18414213,27114917 MODERATE 1 SNV 1 1,1 1 PASS TTG . . 0.647 0.731 0.6909 0.603 0.5828 0.7386 0.6568 0.6462 0.5075 36099427 DHDH . GRCh38 chr19 48933756 48933756 + Missense_Mutation SNP T T C novel 7316-485 BS_KRYAZ09R T T c.35T>C p.Leu12Pro p.L12P ENST00000221403 1/7 57 52 5 39 38 0 DHDH,missense_variant,p.Leu12Pro,ENST00000221403,NM_014475.3;DHDH,missense_variant,p.Leu12Pro,ENST00000522614,;DHDH,missense_variant,p.Leu12Pro,ENST00000523250,;DHDH,upstream_gene_variant,,ENST00000520557,;,regulatory_region_variant,,ENSR00000110805,; C ENSG00000104808 ENST00000221403 Transcript missense_variant 75/1081 35/1005 12/334 L/P cTc/cCc 1 1 DHDH HGNC HGNC:17887 protein_coding YES CCDS12741.1 ENSP00000221403 Q9UQ10 UPI000006DD01 NM_014475.3 tolerated(0.05) probably_damaging(0.919) 1/7 hmmpanther:PTHR22604,hmmpanther:PTHR22604:SF141,Pfam_domain:PF01408,Gene3D:3.40.50.720,Superfamily_domains:SSF51735 MODERATE 1 SNV 1 PASS CTC . . 48933756 LILRB2 . GRCh38 chr19 54276915 54276915 + Missense_Mutation SNP G G C rs139961541 7316-485 BS_KRYAZ09R G G c.1375C>G p.Leu459Val p.L459V ENST00000391749 10/14 58 49 7 35 35 0 LILRB2,missense_variant,p.Leu458Val,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Leu343Val,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Leu458Val,ENST00000314446,NM_001080978.3;LILRB2,missense_variant,p.Leu459Val,ENST00000391749,NM_005874.4;LILRB2,missense_variant,p.Leu459Val,ENST00000391746,NM_001278406.2,NM_001278405.2;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,missense_variant,p.Leu135Val,ENST00000455108,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,; C ENSG00000131042 ENST00000391749 Transcript missense_variant 1647/2286 1375/1797 459/598 L/V Ctg/Gtg rs139961541,COSM713745 1 -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423 UPI00034F23A2 NM_005874.4 deleterious(0.03) benign(0.16) 10/14 Gene3D:1.20.5.100,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 1 0,1 PASS AGG . . 0.002973 0.006365 0.001315 0.009391 0.003305 0.002963 0.003062 0.002704 54276915 IGLV5-48 . GRCh38 chr22 22353179 22353179 + Missense_Mutation SNP C C T rs61739192 7316-485 BS_KRYAZ09R C C c.115C>T p.Leu39Phe p.L39F ENST00000390293 2/2 93 66 26 49 47 2 IGLV5-48,missense_variant,p.Leu39Phe,ENST00000390293,;IGLV1-47,upstream_gene_variant,,ENST00000390294,; T ENSG00000211647 ENST00000390293 Transcript missense_variant 115/369 115/318 39/105 L/F Ctc/Ttc rs61739192 1 1 IGLV5-48 HGNC HGNC:5925 IG_V_gene YES ENSP00000374828 A0A075B6I7 UPI0004620D49 deleterious(0.02) possibly_damaging(0.48) 2/2 0.1024 0.1496 MODERATE 1 SNV PASS ACT . . 0.1114 0.05309 0.1298 0.1383 0.07519 0.084 0.1378 0.098 0.07465 22353179 IGLV5-48 . GRCh38 chr22 22353255 22353255 + Missense_Mutation SNP C C T rs771291132 7316-485 BS_KRYAZ09R C C c.191C>T p.Pro64Leu p.P64L ENST00000390293 2/2 60 33 6 42 19 0 IGLV5-48,missense_variant,p.Pro64Leu,ENST00000390293,;IGLV1-47,upstream_gene_variant,,ENST00000390294,; T ENSG00000211647 ENST00000390293 Transcript missense_variant 191/369 191/318 64/105 P/L cCt/cTt rs771291132 1 1 IGLV5-48 HGNC HGNC:5925 IG_V_gene YES ENSP00000374828 A0A075B6I7 UPI0004620D49 deleterious(0.01) benign(0.196) 2/2 MODERATE 1 SNV PASS CCT . . 1.26e-05 4.642e-05 1.868e-05 22353255 IGLV7-46 . GRCh38 chr22 22369884 22369884 + Missense_Mutation SNP A A G novel 7316-485 BS_KRYAZ09R A A c.148A>G p.Ser50Gly p.S50G ENST00000390295 2/2 67 55 7 30 29 0 IGLV7-46,missense_variant,p.Ser50Gly,ENST00000390295,;AC245291.3,upstream_gene_variant,,ENST00000443400,;ASH2LP2,downstream_gene_variant,,ENST00000453999,; G ENSG00000211649 ENST00000390295 Transcript missense_variant 182/385 148/351 50/117 S/G Agt/Ggt 1 1 IGLV7-46 HGNC HGNC:5930 IG_V_gene YES ENSP00000374830 A0A075B6I9 UPI0000F30335 tolerated(0.52) benign(0) 2/2 MODERATE 1 SNV PASS CAG . . 22369884 RPL10 . GRCh38 chrX 154400837 154400837 + Missense_Mutation SNP C C T rs979369776 7316-485 BS_KRYAZ09R C C c.628C>T p.Arg210Trp p.R210W ENST00000424325 7/7 33 23 8 14 13 0 RPL10,missense_variant,p.Arg210Trp,ENST00000424325,NM_001303625.1,NM_006013.4;RPL10,missense_variant,p.Arg210Trp,ENST00000344746,NM_001303626.1,NM_001303624.1;RPL10,missense_variant,p.Arg174Trp,ENST00000618723,NM_001256580.2;RPL10,missense_variant,p.Arg210Trp,ENST00000369817,;RPL10,missense_variant,p.Arg159Trp,ENST00000406022,;RPL10,synonymous_variant,p.Gly155=,ENST00000458500,NM_001256577.2;RPL10,intron_variant,,ENST00000427682,;RPL10,intron_variant,,ENST00000428169,;RPL10,intron_variant,,ENST00000449494,;RPL10,intron_variant,,ENST00000451365,;DNASE1L1,downstream_gene_variant,,ENST00000014935,;DNASE1L1,downstream_gene_variant,,ENST00000309585,NM_001009933.2;DNASE1L1,downstream_gene_variant,,ENST00000369807,NM_001303620.1;DNASE1L1,downstream_gene_variant,,ENST00000369808,NM_006730.3;DNASE1L1,downstream_gene_variant,,ENST00000369809,NM_001009932.2;DNASE1L1,downstream_gene_variant,,ENST00000393638,NM_001009934.2;DNASE1L1,downstream_gene_variant,,ENST00000412184,;DNASE1L1,downstream_gene_variant,,ENST00000424626,;DNASE1L1,downstream_gene_variant,,ENST00000432135,;RPL10,downstream_gene_variant,,ENST00000436473,;DNASE1L1,downstream_gene_variant,,ENST00000447892,;DNASE1L1,downstream_gene_variant,,ENST00000451865,;SNORA70,downstream_gene_variant,,ENST00000384436,;AC245140.2,upstream_gene_variant,,ENST00000624054,;RPL10,downstream_gene_variant,,ENST00000479366,;RPL10,non_coding_transcript_exon_variant,,ENST00000482732,;RPL10,non_coding_transcript_exon_variant,,ENST00000492572,;RPL10,non_coding_transcript_exon_variant,,ENST00000489200,;RPL10,non_coding_transcript_exon_variant,,ENST00000491035,;RPL10,non_coding_transcript_exon_variant,,ENST00000467168,;RPL10,downstream_gene_variant,,ENST00000485196,;DNASE1L1,downstream_gene_variant,,ENST00000497242,; T ENSG00000147403 ENST00000424325 Transcript missense_variant 816/2318 628/645 210/214 R/W Cgg/Tgg rs979369776,COSM5793483 1 1 RPL10 HGNC HGNC:10298 protein_coding YES CCDS14746.1 ENSP00000413436 P27635 X5D2T3 UPI0000144CE2 NM_001303625.1,NM_006013.4 tolerated(0.31) benign(0) 7/7 hmmpanther:PTHR11726,hmmpanther:PTHR11726:SF11 0,1 MODERATE 1 SNV 1 0,1 1 PASS GCG . . 154400837 MT-ND5 . GRCh38 chrM 13708 13708 + Missense_Mutation SNP G G A rs28359178 7316-485 BS_KRYAZ09R G G c.1372G>A p.Ala458Thr p.A458T ENST00000361567 1/1 18624 16543 1499 2621 2567 0 MT-ND5,missense_variant,p.Ala458Thr,ENST00000361567,;MT-ND3,downstream_gene_variant,,ENST00000361227,;MT-ND4L,downstream_gene_variant,,ENST00000361335,;MT-ND4,downstream_gene_variant,,ENST00000361381,;MT-ND6,downstream_gene_variant,,ENST00000361681,;MT-CYB,upstream_gene_variant,,ENST00000361789,;MT-ATP6,downstream_gene_variant,,ENST00000361899,;MT-CO3,downstream_gene_variant,,ENST00000362079,;MT-TG,downstream_gene_variant,,ENST00000387429,;MT-TR,downstream_gene_variant,,ENST00000387439,;MT-TH,downstream_gene_variant,,ENST00000387441,;MT-TS2,downstream_gene_variant,,ENST00000387449,;MT-TL2,downstream_gene_variant,,ENST00000387456,;MT-TE,downstream_gene_variant,,ENST00000387459,;MT-TT,upstream_gene_variant,,ENST00000387460,;MT-TP,downstream_gene_variant,,ENST00000387461,;,regulatory_region_variant,,ENSR00000339371,;,TF_binding_site_variant,,PB0020.1,; A ENSG00000198786 ENST00000361567 Transcript missense_variant 1372/1812 1372/1812 458/603 A/T Gca/Aca rs28359178 1 1 MT-ND5 HGNC HGNC:7461 protein_coding YES ENSP00000354813 P03915 U5ZC31 UPI0000000A9D tolerated_low_confidence(0.19) benign(0) 1/1 PDB-ENSP_mappings:5xtc.l,PDB-ENSP_mappings:5xtd.l,Pfam_domain:PF06455,hmmpanther:PTHR42829,hmmpanther:PTHR42829:SF2,TIGRFAM_domain:TIGR01974,Transmembrane_helices:TMhelix 19387457,1732158,1900003,7635294,20301353,1417830,1764087,25925750 MODERATE 1 SNV 1 1 PASS GGC . . 13708 CNKSR1 . GRCh38 chr1 26177553 26177553 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.6A>C p.Glu2Asp p.E2D ENST00000374253 1/21 94 77 13 31 28 0 CNKSR1,missense_variant,p.Glu2Asp,ENST00000361530,NM_006314.2;CNKSR1,missense_variant,p.Glu2Asp,ENST00000374253,NM_001297647.1;CNKSR1,upstream_gene_variant,,ENST00000531191,NM_001297648.1;CNKSR1,non_coding_transcript_exon_variant,,ENST00000480348,;CNKSR1,upstream_gene_variant,,ENST00000528001,;CNKSR1,missense_variant,p.Glu2Asp,ENST00000482227,;CNKSR1,missense_variant,p.Glu2Asp,ENST00000525687,;CNKSR1,missense_variant,p.Glu2Asp,ENST00000481077,;CNKSR1,non_coding_transcript_exon_variant,,ENST00000465415,;CNKSR1,upstream_gene_variant,,ENST00000524529,;CNKSR1,upstream_gene_variant,,ENST00000531150,;,regulatory_region_variant,,ENSR00000003519,; C ENSG00000142675 ENST00000374253 Transcript missense_variant 45/2538 6/2163 2/720 E/D gaA/gaC 1 1 CNKSR1 HGNC HGNC:19700 protein_coding YES CCDS72732.1 ENSP00000363371 Q969H4 UPI0000070054 NM_001297647.1 tolerated(0.07) benign(0.011) 1/21 Gene3D:1.10.150.50,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF10,Superfamily_domains:SSF47769 MODERATE 1 SNV 1 1 PASS AAC . . 26177553 LRRC41 . GRCh38 chr1 46303201 46303201 + Missense_Mutation SNP T T G 7316-196 BS_0MRKTX2B T T c.122A>C p.Asn41Thr p.N41T ENST00000617190 1/10 79 68 10 45 43 0 LRRC41,missense_variant,p.Asn41Thr,ENST00000617190,;LRRC41,missense_variant,p.Asn41Thr,ENST00000343304,NM_006369.4;LRRC41,missense_variant,p.Asn19Thr,ENST00000615587,;UQCRH,upstream_gene_variant,,ENST00000311672,NM_001297566.1,NM_001297565.1,NM_006004.3;LRRC41,upstream_gene_variant,,ENST00000469150,;LRRC41,missense_variant,p.Asn19Thr,ENST00000498402,;LRRC41,upstream_gene_variant,,ENST00000472710,;UQCRH,upstream_gene_variant,,ENST00000486951,;UQCRH,upstream_gene_variant,,ENST00000489056,;UQCRH,upstream_gene_variant,,ENST00000496387,;,regulatory_region_variant,,ENSR00000005946,; G ENSG00000132128 ENST00000617190 Transcript missense_variant 408/4128 122/2439 41/812 N/T aAc/aCc COSM5982523 1 -1 LRRC41 HGNC HGNC:16917 protein_coding YES CCDS533.1 ENSP00000477792 Q15345 UPI0000225CC7 tolerated(0.3) benign(0.009) 1/10 hmmpanther:PTHR15354 1 MODERATE 1 SNV 1 1 PASS GTT . . 46303201 SLC30A1 . GRCh38 chr1 211578611 211578611 + Translation_Start_Site SNP A A C novel 7316-196 BS_0MRKTX2B A A c.2T>G p.Met1? p.M1? ENST00000367001 1/2 95 82 12 40 40 0 SLC30A1,start_lost,p.Met1?,ENST00000367001,NM_021194.2;AC105275.2,downstream_gene_variant,,ENST00000567907,;,regulatory_region_variant,,ENSR00000019571,; C ENSG00000170385 ENST00000367001 Transcript start_lost 132/5474 2/1524 1/507 M/R aTg/aGg 1 -1 SLC30A1 HGNC HGNC:11012 protein_coding YES CCDS1499.1 ENSP00000355968 Q9Y6M5 UPI000013EBA0 NM_021194.2 deleterious(0) benign(0.206) 1/2 hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562 HIGH 1 SNV 1 PASS CAT . . 211578611 NENF . GRCh38 chr1 212433085 212433085 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.142A>C p.Thr48Pro p.T48P ENST00000366988 1/4 90 79 8 37 35 1 NENF,missense_variant,p.Thr48Pro,ENST00000366988,NM_013349.4;NENF,non_coding_transcript_exon_variant,,ENST00000473900,;NENF,non_coding_transcript_exon_variant,,ENST00000479589,;NENF,non_coding_transcript_exon_variant,,ENST00000472389,;,regulatory_region_variant,,ENSR00000019704,; C ENSG00000117691 ENST00000366988 Transcript missense_variant 199/949 142/519 48/172 T/P Acc/Ccc 1 1 NENF HGNC HGNC:30384 protein_coding YES CCDS1505.1 ENSP00000355955 Q9UMX5 UPI000006E19B NM_013349.4 deleterious(0) probably_damaging(0.962) 1/4 hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF39,Gene3D:3.10.120.10,Pfam_domain:PF00173,SMART_domains:SM01117,Superfamily_domains:SSF55856 MODERATE 1 SNV 1 PASS CAC . . 212433085 RHOU . GRCh38 chr1 228735770 228735770 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.28T>G p.Phe10Val p.F10V ENST00000366691 1/3 85 66 17 27 26 0 RHOU,missense_variant,p.Phe10Val,ENST00000366691,NM_021205.5;,regulatory_region_variant,,ENSR00000021350,; G ENSG00000116574 ENST00000366691 Transcript missense_variant 694/4372 28/777 10/258 F/V Ttc/Gtc 1 1 RHOU HGNC HGNC:17794 protein_coding YES CCDS1575.1 ENSP00000355652 Q7L0Q8 A0A024R3Q7 UPI0000073CDF NM_021205.5 tolerated_low_confidence(0.45) benign(0) 1/3 mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 228735770 IRF2BP2 . GRCh38 chr1 234608840 234608840 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.655A>C p.Thr219Pro p.T219P ENST00000366609 1/2 94 76 13 45 44 1 IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366609,NM_182972.2;IRF2BP2,missense_variant,p.Thr219Pro,ENST00000366610,NM_001077397.1;AL160408.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;,regulatory_region_variant,,ENSR00000257385,; G ENSG00000168264 ENST00000366609 Transcript missense_variant 686/4663 655/1764 219/587 T/P Acc/Ccc 1 -1 IRF2BP2 HGNC HGNC:21729 protein_coding YES CCDS1602.1 ENSP00000355568 Q7Z5L9 UPI000004FA32 NM_182972.2 tolerated(0.33) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18 MODERATE 1 SNV 1 1 PASS GTT . . 234608840 PXDN . GRCh38 chr2 1649186 1649186 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.2594A>C p.Asn865Thr p.N865T ENST00000252804 17/23 82 64 14 37 34 0 PXDN,missense_variant,p.Asn865Thr,ENST00000252804,NM_012293.2;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,; G ENSG00000130508 ENST00000252804 Transcript missense_variant 2645/6808 2594/4440 865/1479 N/T aAt/aCt 1 -1 PXDN HGNC HGNC:14966 protein_coding YES CCDS46221.1 ENSP00000252804 Q92626 UPI00001C1DC2 NM_012293.2 tolerated(0.17) benign(0.062) 17/23 cd09826,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF75 MODERATE 1 SNV 1 1 PASS ATT . . 1649186 LTBP1 . GRCh38 chr2 32947686 32947686 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.362A>C p.Asn121Thr p.N121T ENST00000404816 1/34 88 73 14 42 39 2 LTBP1,missense_variant,p.Asn121Thr,ENST00000404816,NM_206943.2;RF00019,upstream_gene_variant,,ENST00000384224,;,regulatory_region_variant,,ENSR00000115043,; C ENSG00000049323 ENST00000404816 Transcript missense_variant 715/6333 362/5166 121/1721 N/T aAt/aCt 1 1 LTBP1 HGNC HGNC:6714 protein_coding YES CCDS33177.2 ENSP00000386043 Q14766 UPI000173A4A4 NM_206943.2 tolerated_low_confidence(0.18) benign(0.003) 1/34 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 5 PASS AAT . . 32947686 ZFP36L2 . GRCh38 chr2 43224886 43224886 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.918T>G p.Cys306Trp p.C306W ENST00000282388 2/2 71 54 16 50 50 0 ZFP36L2,missense_variant,p.Cys306Trp,ENST00000282388,NM_006887.4;LINC01126,upstream_gene_variant,,ENST00000623515,;AC010883.1,upstream_gene_variant,,ENST00000423354,;,regulatory_region_variant,,ENSR00000116141,; C ENSG00000152518 ENST00000282388 Transcript missense_variant 1212/3696 918/1485 306/494 C/W tgT/tgG 1 -1 ZFP36L2 HGNC HGNC:1108 protein_coding YES CCDS1811.1 ENSP00000282388 P47974 UPI000013DCDA NM_006887.4 deleterious(0.02) possibly_damaging(0.712) 2/2 hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF100,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 43224886 UBR3 . GRCh38 chr2 169827638 169827638 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.131A>C p.Asn44Thr p.N44T ENST00000418381 1/39 89 71 13 56 54 1 UBR3,missense_variant,p.Asn44Thr,ENST00000272793,;UBR3,missense_variant,p.Asn44Thr,ENST00000418381,NM_172070.3;METTL5,upstream_gene_variant,,ENST00000260953,NM_014168.3;METTL5,upstream_gene_variant,,ENST00000308099,;METTL5,upstream_gene_variant,,ENST00000392640,NM_001293187.1;METTL5,upstream_gene_variant,,ENST00000409340,;METTL5,upstream_gene_variant,,ENST00000409837,;METTL5,upstream_gene_variant,,ENST00000409965,NM_001293186.1;METTL5,upstream_gene_variant,,ENST00000410097,;METTL5,upstream_gene_variant,,ENST00000538491,;METTL5,upstream_gene_variant,,ENST00000471560,;METTL5,upstream_gene_variant,,ENST00000537825,;,regulatory_region_variant,,ENSR00000126028,; C ENSG00000144357 ENST00000418381 Transcript missense_variant 131/7951 131/5667 44/1888 N/T aAc/aCc 1 1 UBR3 HGNC HGNC:30467 protein_coding YES CCDS2238.2 ENSP00000396068 Q6ZT12 UPI00015FA088 NM_172070.3 deleterious_low_confidence(0.03) benign(0) 1/39 MODERATE SNV 5 PASS AAC . . 169827638 HOXD9 . GRCh38 chr2 176123144 176123144 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.376T>G p.Phe126Val p.F126V ENST00000249499 1/2 97 76 19 51 50 0 HOXD9,missense_variant,p.Phe126Val,ENST00000249499,NM_014213.3;HOXD10,downstream_gene_variant,,ENST00000249501,NM_002148.3;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD10,downstream_gene_variant,,ENST00000490088,;HOXD10,downstream_gene_variant,,ENST00000549469,;,regulatory_region_variant,,ENSR00000126745,; G ENSG00000128709 ENST00000249499 Transcript missense_variant 425/1870 376/1059 126/352 F/V Ttc/Gtc 1 1 HOXD9 HGNC HGNC:5140 protein_coding YES CCDS2267.2 ENSP00000249499 P28356 UPI000004A10E NM_014213.3 deleterious(0.05) benign(0.103) 1/2 Low_complexity_(Seg):seg,mobidb-lite,Pfam_domain:PF04617,hmmpanther:PTHR24326:SF113,hmmpanther:PTHR24326 MODERATE 1 SNV 1 PASS CTT . . 176123144 HDAC11 . GRCh38 chr3 13480349 13480349 + Translation_Start_Site SNP T T G novel 7316-196 BS_0MRKTX2B T T c.2T>G p.Met1? p.M1? ENST00000295757 1/10 91 63 17 37 33 0 HDAC11,start_lost,p.Met1?,ENST00000295757,NM_024827.3;HDAC11,start_lost,p.Met1?,ENST00000402271,;HDAC11,start_lost,p.Met1?,ENST00000402259,;HDAC11,start_lost,p.Met1?,ENST00000404040,;HDAC11,start_lost,p.Met1?,ENST00000404548,;HDAC11,splice_region_variant,,ENST00000446613,;HDAC11,5_prime_UTR_variant,,ENST00000405478,;HDAC11,intron_variant,,ENST00000433119,;HDAC11,upstream_gene_variant,,ENST00000405025,;HDAC11,upstream_gene_variant,,ENST00000416248,;HDAC11,upstream_gene_variant,,ENST00000418189,;HDAC11,upstream_gene_variant,,ENST00000434848,;HDAC11,upstream_gene_variant,,ENST00000437379,;HDAC11,upstream_gene_variant,,ENST00000455904,;HDAC11,upstream_gene_variant,,ENST00000522202,NM_001136041.2;HDAC11-AS1,upstream_gene_variant,,ENST00000424112,;HDAC11,splice_region_variant,,ENST00000458642,;HDAC11,start_lost,p.Met1?,ENST00000425430,;HDAC11,upstream_gene_variant,,ENST00000475818,;HDAC11,upstream_gene_variant,,ENST00000487585,;,regulatory_region_variant,,ENSR00000148803,; G ENSG00000163517 ENST00000295757 Transcript start_lost,splice_region_variant 185/2960 2/1044 1/347 M/R aTg/aGg 1 1 HDAC11 HGNC HGNC:19086 protein_coding YES CCDS2615.1 ENSP00000295757 Q96DB2 A0A024R2I1 UPI000012C3A7 NM_024827.3 deleterious_low_confidence(0) benign(0.012) 1/10 HIGH 1 SNV 1 PASS ATG . . 13480349 HYAL3 . GRCh38 chr3 50295476 50295476 + Nonsense_Mutation SNP C C A 7316-196 BS_0MRKTX2B C C c.127G>T p.Glu43Ter p.E43* ENST00000336307 2/4 92 80 7 36 34 0 HYAL3,stop_gained,p.Glu43Ter,ENST00000336307,NM_003549.3;HYAL3,stop_gained,p.Glu43Ter,ENST00000621157,NM_001200029.1;HYAL3,stop_gained,p.Glu43Ter,ENST00000359051,;HYAL3,stop_gained,p.Glu43Ter,ENST00000450982,NM_001200030.1;HYAL3,stop_gained,p.Glu43Ter,ENST00000435141,;HYAL3,intron_variant,,ENST00000415204,NM_001200031.1;HYAL3,intron_variant,,ENST00000513170,NM_001200032.1;HYAL1,downstream_gene_variant,,ENST00000266031,;HYAL1,downstream_gene_variant,,ENST00000320295,NM_153281.1;NAA80,downstream_gene_variant,,ENST00000354862,NM_012191.3;HYAL1,downstream_gene_variant,,ENST00000395143,NM_153282.2;HYAL1,downstream_gene_variant,,ENST00000395144,NM_033159.3;NAA80,downstream_gene_variant,,ENST00000417393,NM_001200018.1;IFRD2,upstream_gene_variant,,ENST00000417626,NM_006764.4;IFRD2,upstream_gene_variant,,ENST00000436390,;NAA80,downstream_gene_variant,,ENST00000442620,;NAA80,downstream_gene_variant,,ENST00000443094,NM_001200016.1;NAA80,downstream_gene_variant,,ENST00000443842,;NAA80,downstream_gene_variant,,ENST00000450489,;NAA80,downstream_gene_variant,,ENST00000452674,;HYAL1,downstream_gene_variant,,ENST00000618175,;IFRD2,upstream_gene_variant,,ENST00000468737,;IFRD2,upstream_gene_variant,,ENST00000484043,;IFRD2,upstream_gene_variant,,ENST00000414734,;IFRD2,upstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000474556,;IFRD2,upstream_gene_variant,,ENST00000489569,; A ENSG00000186792 ENST00000336307 Transcript stop_gained 400/1942 127/1254 43/417 E/* Gag/Tag COSM6213567 1 -1 HYAL3 HGNC HGNC:5322 protein_coding YES CCDS2815.1 ENSP00000337425 O43820 A0A024R2Y7 UPI000006E0AC NM_003549.3 2/4 Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,PIRSF_domain:PIRSF500776,Prints_domain:PR00846,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF19,Superfamily_domains:SSF51445 1 HIGH 1 SNV 1 1 PASS TCA . . 50295476 DGKQ . GRCh38 chr4 961046 961046 + Splice_Region SNP T T G novel 7316-196 BS_0MRKTX2B T T c.2727+3A>C ENST00000273814 92 77 12 46 45 0 DGKQ,splice_region_variant,,ENST00000273814,NM_001347.3;DGKQ,splice_region_variant,,ENST00000509465,;DGKQ,splice_region_variant,,ENST00000515182,;TMEM175,downstream_gene_variant,,ENST00000264771,NM_032326.3;TMEM175,downstream_gene_variant,,ENST00000508204,NM_001297423.1,NM_001297424.1,NM_001297425.1;TMEM175,downstream_gene_variant,,ENST00000510493,;TMEM175,downstream_gene_variant,,ENST00000515492,;TMEM175,downstream_gene_variant,,ENST00000515740,NM_001297428.1;TMEM175,downstream_gene_variant,,ENST00000622959,NM_001297427.1,NM_001297426.1;DGKQ,downstream_gene_variant,,ENST00000502309,;TMEM175,downstream_gene_variant,,ENST00000438836,;TMEM175,downstream_gene_variant,,ENST00000452360,;TMEM175,downstream_gene_variant,,ENST00000513952,; G ENSG00000145214 ENST00000273814 Transcript splice_region_variant,intron_variant 1 -1 DGKQ HGNC HGNC:2856 protein_coding YES CCDS3342.1 ENSP00000273814 P52824 A0A140VKC1 UPI00001AE9B4 NM_001347.3 22/22 LOW 1 SNV 1 PASS ATA . . 961046 PRSS12 . GRCh38 chr4 118352528 118352528 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.193T>G p.Phe65Val p.F65V ENST00000296498 1/13 88 74 14 26 25 0 PRSS12,missense_variant,p.Phe65Val,ENST00000296498,NM_003619.3;,regulatory_region_variant,,ENSR00000172341,; C ENSG00000164099 ENST00000296498 Transcript missense_variant 476/4809 193/2628 65/875 F/V Ttc/Gtc 1 -1 PRSS12 HGNC HGNC:9477 protein_coding YES CCDS3709.1 ENSP00000296498 P56730 UPI000013E34B NM_003619.3 tolerated_low_confidence(1) benign(0) 1/13 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAG . . 118352528 SAP30 . GRCh38 chr4 173371283 173371283 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.101A>C p.Asn34Thr p.N34T ENST00000296504 1/4 79 57 21 36 35 0 SAP30,missense_variant,p.Asn34Thr,ENST00000296504,NM_003864.3;AC097534.2,upstream_gene_variant,,ENST00000608794,;AC097534.2,upstream_gene_variant,,ENST00000608892,;AC097534.2,upstream_gene_variant,,ENST00000609153,;AC097534.2,upstream_gene_variant,,ENST00000609900,;SAP30,downstream_gene_variant,,ENST00000504618,;,regulatory_region_variant,,ENSR00000176229,; C ENSG00000164105 ENST00000296504 Transcript missense_variant 341/1108 101/663 34/220 N/T aAc/aCc 1 1 SAP30 HGNC HGNC:10532 protein_coding YES CCDS3817.1 ENSP00000296504 O75446 UPI000006F36D NM_003864.3 tolerated_low_confidence(0.28) benign(0.003) 1/4 Low_complexity_(Seg):seg,hmmpanther:PTHR13286,hmmpanther:PTHR13286:SF7 MODERATE 1 SNV 1 PASS AAC . . 173371283 SLC9A3 . GRCh38 chr5 524322 524322 + Translation_Start_Site SNP T T G novel 7316-196 BS_0MRKTX2B T T c.1A>C p.Met1? p.M1? ENST00000264938 1/17 70 53 14 39 38 0 SLC9A3,start_lost,p.Met1?,ENST00000644203,;SLC9A3,start_lost,p.Met1?,ENST00000264938,NM_004174.3;SLC9A3,start_lost,p.Met1?,ENST00000514375,NM_001284351.2;AC106772.2,upstream_gene_variant,,ENST00000515085,;,regulatory_region_variant,,ENSR00000177436,; G ENSG00000066230 ENST00000264938 Transcript start_lost 11/2584 1/2505 1/834 M/L Atg/Ctg 1 -1 SLC9A3 HGNC HGNC:11073 protein_coding YES CCDS3855.1 ENSP00000264938 P48764 UPI000013D597 NM_004174.3 deleterious_low_confidence(0) benign(0.001) 1/17 Cleavage_site_(Signalp):SignalP-TM HIGH 1 SNV 1 1 PASS ATT . . 524322 ZDHHC11 . GRCh38 chr5 843630 843630 + Missense_Mutation SNP C C T rs71591189 7316-196 BS_0MRKTX2B C C c.598G>A p.Gly200Arg p.G200R ENST00000283441 4/13 188 154 29 56 54 1 ZDHHC11,missense_variant,p.Gly200Arg,ENST00000283441,NM_024786.2;ZDHHC11,5_prime_UTR_variant,,ENST00000511539,;ZDHHC11,5_prime_UTR_variant,,ENST00000511193,;ZDHHC11,intron_variant,,ENST00000508951,;ZDHHC11,upstream_gene_variant,,ENST00000503758,;ZDHHC11,downstream_gene_variant,,ENST00000512775,;ZDHHC11,missense_variant,p.Gly61Arg,ENST00000507800,;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000503880,;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000505815,;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000512190,; T ENSG00000188818 ENST00000283441 Transcript missense_variant 982/2604 598/1239 200/412 G/R Ggg/Agg rs71591189,COSM5034187,COSM5034186 1 -1 ZDHHC11 HGNC HGNC:19158 protein_coding YES CCDS3857.1 ENSP00000283441 Q9H8X9 UPI000013C384 NM_024786.2 tolerated(0.54) benign(0) 4/13 Pfam_domain:PF01529,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF22 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CCG . . 0.01818 0.02494 0.02569 0.007714 0.07517 0.002234 0.0116 0.02727 0.01571 843630 PRDM9 . GRCh38 chr5 23526794 23526794 + Missense_Mutation SNP T T G 7316-196 BS_0MRKTX2B T T c.1706T>G p.Ile569Ser p.I569S ENST00000296682 11/11 81 59 8 29 29 0 PRDM9,missense_variant,p.Ile569Ser,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,; G ENSG00000164256 ENST00000296682 Transcript missense_variant 1888/3691 1706/2685 569/894 I/S aTt/aGt COSM6233137 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(0.8) benign(0.006) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.40.10,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 1 1 PASS ATT . . 23526794 PRDM9 . GRCh38 chr5 23526806 23526806 + Missense_Mutation SNP T T A 7316-196 BS_0MRKTX2B T T c.1718T>A p.Ile573Lys p.I573K ENST00000296682 11/11 77 54 7 28 28 0 PRDM9,missense_variant,p.Ile573Lys,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,;,regulatory_region_variant,,ENSR00000314203,; A ENSG00000164256 ENST00000296682 Transcript missense_variant 1900/3691 1718/2685 573/894 I/K aTa/aAa COSM4006007,COSM3013837 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(0.08) benign(0.02) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.30.30.380,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS ATA . . 23526806 BDP1 . GRCh38 chr5 71510316 71510316 + Missense_Mutation SNP G G T novel 7316-196 BS_0MRKTX2B G G c.3224G>T p.Gly1075Val p.G1075V ENST00000358731 17/39 79 65 7 42 39 0 BDP1,missense_variant,p.Gly1075Val,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,; T ENSG00000145734 ENST00000358731 Transcript missense_variant 3487/11073 3224/7875 1075/2624 G/V gGg/gTg 1 1 BDP1 HGNC HGNC:13652 protein_coding YES CCDS43328.1 ENSP00000351575 A6H8Y1 UPI000020CA90 NM_018429.2 tolerated(0.13) benign(0) 17/39 mobidb-lite,hmmpanther:PTHR22929 MODERATE 1 SNV 1 1 PASS GGG . . 71510316 MCTP1 . GRCh38 chr5 95284178 95284178 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.398T>G p.Val133Gly p.V133G ENST00000515393 1/23 104 95 8 44 42 0 MCTP1,missense_variant,p.Val133Gly,ENST00000515393,NM_024717.5;MCTP1,upstream_gene_variant,,ENST00000503301,;,regulatory_region_variant,,ENSR00000184164,; C ENSG00000175471 ENST00000515393 Transcript missense_variant 398/5396 398/3000 133/999 V/G gTa/gGa 1 -1 MCTP1 HGNC HGNC:26183 protein_coding YES CCDS34203.1 ENSP00000424126 Q6DN14 UPI0000D6165C NM_024717.5 tolerated_low_confidence(0.54) benign(0) 1/23 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS TAC . . 95284178 MUCL3 . GRCh38 chr6 30949757 30949757 + Missense_Mutation SNP C C A novel 7316-196 BS_0MRKTX2B C C c.1293C>A p.Asn431Lys p.N431K ENST00000462446 2/3 51 37 6 47 45 0 MUCL3,missense_variant,p.Asn498Lys,ENST00000636043,;MUCL3,missense_variant,p.Asn431Lys,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; A ENSG00000168631 ENST00000462446 Transcript missense_variant 1321/5314 1293/4182 431/1393 N/K aaC/aaA 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.6) benign(0.075) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS ACG . . 30949757 NCR2 . GRCh38 chr6 41342077 41342077 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.572T>G p.Ile191Ser p.I191S ENST00000373089 4/5 81 69 12 42 42 0 NCR2,missense_variant,p.Ile191Ser,ENST00000373083,NM_001199510.1;NCR2,missense_variant,p.Ile203Ser,ENST00000373086,NM_001199509.1;NCR2,missense_variant,p.Ile191Ser,ENST00000373089,NM_004828.3; G ENSG00000096264 ENST00000373089 Transcript missense_variant 660/942 572/831 191/276 I/S aTt/aGt 1 1 NCR2 HGNC HGNC:6732 protein_coding YES CCDS4855.1 ENSP00000362181 O95944 UPI000006DFB0 NM_004828.3 tolerated(1) benign(0) 4/5 hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF7 MODERATE 1 SNV 1 PASS ATT . . 41342077 BYSL . GRCh38 chr6 41921814 41921814 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.252A>C p.Glu84Asp p.E84D ENST00000230340 1/7 93 82 11 32 31 0 BYSL,missense_variant,p.Glu84Asp,ENST00000230340,NM_004053.3;MED20,upstream_gene_variant,,ENST00000265350,NM_001305455.1,NM_004275.4;MED20,upstream_gene_variant,,ENST00000394251,;MED20,upstream_gene_variant,,ENST00000409060,;MED20,upstream_gene_variant,,ENST00000409312,NM_001305457.1;MED20,upstream_gene_variant,,ENST00000434077,;RF00019,upstream_gene_variant,,ENST00000384641,;MED20,upstream_gene_variant,,ENST00000467535,NM_001305456.1;MED20,upstream_gene_variant,,ENST00000482361,;BYSL,missense_variant,p.Glu84Asp,ENST00000489290,;BYSL,non_coding_transcript_exon_variant,,ENST00000475702,;BYSL,non_coding_transcript_exon_variant,,ENST00000494032,;,regulatory_region_variant,,ENSR00000196897,; C ENSG00000112578 ENST00000230340 Transcript missense_variant 627/2029 252/1314 84/437 E/D gaA/gaC 1 1 BYSL HGNC HGNC:1157 protein_coding YES CCDS34450.1 ENSP00000230340 Q13895 UPI0000034CC4 NM_004053.3 tolerated(0.65) benign(0) 1/7 mobidb-lite,hmmpanther:PTHR12821 MODERATE 1 SNV 1 PASS AAC . . 41921814 C6orf132 . GRCh38 chr6 42106576 42106576 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.1336A>C p.Asn446His p.N446H ENST00000341865 4/5 70 53 10 32 31 0 C6orf132,missense_variant,p.Asn446His,ENST00000341865,NM_001164446.2;,regulatory_region_variant,,ENSR00000196928,; G ENSG00000188112 ENST00000341865 Transcript missense_variant 1336/6210 1336/3567 446/1188 N/H Aac/Cac 1 -1 C6orf132 HGNC HGNC:21288 protein_coding YES CCDS47428.1 ENSP00000341368 Q5T0Z8 UPI0001A5E4A3 NM_001164446.2 deleterious_low_confidence(0.02) benign(0.19) 4/5 hmmpanther:PTHR35077,hmmpanther:PTHR35077:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS TTG . . 42106576 SRF . GRCh38 chr6 43171735 43171735 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.79A>C p.Thr27Pro p.T27P ENST00000265354 1/7 94 81 10 43 42 1 SRF,missense_variant,p.Thr27Pro,ENST00000265354,NM_001292001.1,NM_003131.3;,regulatory_region_variant,,ENSR00000197100,; C ENSG00000112658 ENST00000265354 Transcript missense_variant 437/4202 79/1527 27/508 T/P Acg/Ccg 1 1 SRF HGNC HGNC:11291 protein_coding YES CCDS4889.1 ENSP00000265354 P11831 A0A024RD16 UPI0000135F3B NM_001292001.1,NM_003131.3 tolerated_low_confidence(0.06) benign(0) 1/7 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS GAC . . 43171735 PM20D2 . GRCh38 chr6 89146529 89146529 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.385A>C p.Ile129Leu p.I129L ENST00000275072 1/7 84 75 7 45 44 0 PM20D2,missense_variant,p.Ile129Leu,ENST00000275072,NM_001010853.2;,regulatory_region_variant,,ENSR00000199871,; C ENSG00000146281 ENST00000275072 Transcript missense_variant 480/4708 385/1311 129/436 I/L Atc/Ctc 1 1 PM20D2 HGNC HGNC:21408 protein_coding YES CCDS34499.1 ENSP00000275072 Q8IYS1 UPI0000160C07 NM_001010853.2 tolerated(0.05) probably_damaging(0.99) 1/7 Gene3D:3.40.630.10,Pfam_domain:PF01546,PIRSF_domain:PIRSF037226,hmmpanther:PTHR30575,hmmpanther:PTHR30575:SF0,Superfamily_domains:SSF53187,cd05672,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAT . . 89146529 PEX7 . GRCh38 chr6 136822784 136822784 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.119A>C p.Tyr40Ser p.Y40S ENST00000318471 1/10 99 83 14 35 33 1 PEX7,missense_variant,p.Tyr40Ser,ENST00000318471,NM_000288.3;PEX7,missense_variant,p.Tyr40Ser,ENST00000541292,;PEX7,missense_variant,p.Tyr40Ser,ENST00000367756,;,regulatory_region_variant,,ENSR00000203552,; C ENSG00000112357 ENST00000318471 Transcript missense_variant 200/1464 119/972 40/323 Y/S tAc/tCc 1 1 PEX7 HGNC HGNC:8860 protein_coding YES CCDS5180.1 ENSP00000315680 O00628 Q6FGN1 UPI00001316F3 NM_000288.3 deleterious(0) probably_damaging(0.998) 1/10 Gene3D:2.130.10.10,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF188 MODERATE 1 SNV 1 1 PASS TAC . . 136822784 PRR18 . GRCh38 chr6 166307481 166307481 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.662T>G p.Val221Gly p.V221G ENST00000322583 1/1 77 60 14 40 39 1 PRR18,missense_variant,p.Val221Gly,ENST00000322583,NM_175922.3;PRR18,downstream_gene_variant,,ENST00000529616,; C ENSG00000176381 ENST00000322583 Transcript missense_variant 903/3084 662/888 221/295 V/G gTt/gGt 1 -1 PRR18 HGNC HGNC:28574 protein_coding YES CCDS5291.1 ENSP00000319590 Q8N4B5 UPI0000140E82 NM_175922.3 tolerated_low_confidence(0.36) benign(0) 1/1 mobidb-lite,hmmpanther:PTHR10994:SF127,hmmpanther:PTHR10994,Pfam_domain:PF15671 MODERATE 1 SNV PASS AAC . . 166307481 HOXA13 . GRCh38 chr7 27199678 27199678 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.400T>G p.Ser134Ala p.S134A ENST00000222753 1/2 53 35 11 29 29 0 HOXA13,missense_variant,p.Ser134Ala,ENST00000222753,NM_000522.4;HOTTIP,intron_variant,,ENST00000421733,;HOTTIP,intron_variant,,ENST00000605136,;HOTTIP,upstream_gene_variant,,ENST00000472494,;HOTTIP,upstream_gene_variant,,ENST00000521028,;RF02041,upstream_gene_variant,,ENST00000616633,;RF02042,upstream_gene_variant,,ENST00000619957,;RF02040,upstream_gene_variant,,ENST00000620415,;HOXA13,upstream_gene_variant,,ENST00000518136,;,regulatory_region_variant,,ENSR00000209863,; C ENSG00000106031 ENST00000222753 Transcript missense_variant 429/5030 400/1167 134/388 S/A Tcg/Gcg 1 -1 HOXA13 HGNC HGNC:5102 protein_coding YES CCDS5412.1 ENSP00000222753 P31271 UPI000013C812 NM_000522.4 tolerated(0.82) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF213,hmmpanther:PTHR24326,Gene3D:1.10.10.60 MODERATE 1 SNV 1 1 PASS GAC . . 27199678 URGCP . GRCh38 chr7 43906560 43906560 + Splice_Site SNP A A C novel 7316-196 BS_0MRKTX2B A A c.14+2T>G p.X5_splice ENST00000453200 91 84 7 48 46 1 URGCP,splice_donor_variant,,ENST00000402306,NM_017920.4;URGCP,splice_donor_variant,,ENST00000439702,;URGCP,splice_donor_variant,,ENST00000443736,NM_001290075.1,NM_001290076.1,NM_001077664.2;URGCP,splice_donor_variant,,ENST00000446958,;URGCP,splice_donor_variant,,ENST00000453200,NM_001077663.2;URGCP-MRPS24,splice_donor_variant,,ENST00000603700,NM_001204871.1;URGCP,intron_variant,,ENST00000426198,;URGCP,intron_variant,,ENST00000455877,;URGCP,intron_variant,,ENST00000477768,;URGCP,upstream_gene_variant,,ENST00000497914,;,regulatory_region_variant,,ENSR00000211760,; C ENSG00000106608 ENST00000453200 Transcript splice_donor_variant 1 -1 URGCP HGNC HGNC:30890 protein_coding YES CCDS47578.1 ENSP00000396918 Q8TCY9 UPI000020EE9D NM_001077663.2 1/5 HIGH 1 SNV 1 PASS CAC . . 43906560 NACAD . GRCh38 chr7 45083466 45083466 + Missense_Mutation SNP G G A rs201818400 7316-196 BS_0MRKTX2B G G c.2714C>T p.Pro905Leu p.P905L ENST00000490531 2/8 72 52 15 41 37 0 NACAD,missense_variant,p.Pro905Leu,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,; A ENSG00000136274 ENST00000490531 Transcript missense_variant 2734/4780 2714/4689 905/1562 P/L cCt/cTt rs201818400,COSM3718680 1 -1 NACAD HGNC HGNC:22196 protein_coding YES CCDS47582.1 ENSP00000420477 O15069 UPI00001D747D NM_001146334.1 tolerated(0.21) benign(0) 2/8 hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF1,mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS AGG . . 0.06077 0.2529 0.1036 0.02042 0.1541 0.004857 0.04472 0.07185 0.06779 45083466 CCDC71L . GRCh38 chr7 106660407 106660407 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.490A>C p.Lys164Gln p.K164Q ENST00000523505 1/1 72 57 9 31 31 0 CCDC71L,missense_variant,p.Lys164Gln,ENST00000523505,NM_175884.4;CCDC71L,missense_variant,p.Gln148Pro,ENST00000315965,;AC004917.1,intron_variant,,ENST00000490856,;AC004917.1,intron_variant,,ENST00000592441,;,regulatory_region_variant,,ENSR00000216494,; G ENSG00000253276 ENST00000523505 Transcript missense_variant 590/4232 490/708 164/235 K/Q Aag/Cag 1 -1 CCDC71L HGNC HGNC:26685 protein_coding YES CCDS55151.1 ENSP00000430897 Q8N9Z2 UPI00003CF1DF NM_175884.4 tolerated_low_confidence(0.27) benign(0.006) 1/1 hmmpanther:PTHR14484,hmmpanther:PTHR14484:SF1,mobidb-lite MODERATE 1 SNV PASS TTG . . 106660407 DENND2A . GRCh38 chr7 140640505 140640505 + Splice_Region SNP T T G novel 7316-196 BS_0MRKTX2B T T c.-147A>C ENST00000275884 1/19 84 65 10 41 38 0 DENND2A,splice_region_variant,,ENST00000275884,NM_001318052.1;DENND2A,splice_region_variant,,ENST00000496613,NM_015689.4;DENND2A,splice_region_variant,,ENST00000475837,;DENND2A,intron_variant,,ENST00000489552,;DENND2A,intron_variant,,ENST00000491728,;DENND2A,upstream_gene_variant,,ENST00000477488,;,regulatory_region_variant,,ENSR00000219123,; G ENSG00000146966 ENST00000275884 Transcript splice_region_variant,5_prime_UTR_variant 272/3735 1 -1 DENND2A HGNC HGNC:22212 protein_coding YES CCDS43659.1 ENSP00000275884 Q9ULE3 UPI00001C1E63 NM_001318052.1 1/19 LOW 1 SNV 1 PASS CTC . . 140640505 ZNF775 . GRCh38 chr7 150397464 150397464 + Missense_Mutation SNP T T G rs1200587989 7316-196 BS_0MRKTX2B T T c.983T>G p.Leu328Arg p.L328R ENST00000329630 3/3 73 65 7 29 29 0 ZNF775,missense_variant,p.Leu328Arg,ENST00000329630,NM_173680.3;AC073111.3,downstream_gene_variant,,ENST00000478789,;ZNF775,downstream_gene_variant,,ENST00000490973,;AC073111.4,intron_variant,,ENST00000483664,;AC073111.4,intron_variant,,ENST00000486297,;AC073111.5,upstream_gene_variant,,ENST00000641330,; G ENSG00000196456 ENST00000329630 Transcript missense_variant 1090/2257 983/1614 328/537 L/R cTg/cGg rs1200587989 1 1 ZNF775 HGNC HGNC:28501 protein_coding YES CCDS43678.1 ENSP00000330838 Q96BV0 UPI00001BDA25 NM_173680.3 tolerated(1) benign(0.105) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF614,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CTG . . 4.472e-06 9.864e-06 150397464 ZNF775 . GRCh38 chr7 150397665 150397665 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.1184T>G p.Val395Gly p.V395G ENST00000329630 3/3 89 76 11 33 33 0 ZNF775,missense_variant,p.Val395Gly,ENST00000329630,NM_173680.3;AC073111.3,downstream_gene_variant,,ENST00000478789,;ZNF775,downstream_gene_variant,,ENST00000490973,;AC073111.4,intron_variant,,ENST00000483664,;AC073111.4,intron_variant,,ENST00000486297,;AC073111.5,upstream_gene_variant,,ENST00000641330,; G ENSG00000196456 ENST00000329630 Transcript missense_variant 1291/2257 1184/1614 395/537 V/G gTt/gGt 1 1 ZNF775 HGNC HGNC:28501 protein_coding YES CCDS43678.1 ENSP00000330838 Q96BV0 UPI00001BDA25 NM_173680.3 tolerated(0.25) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR24377:SF614,hmmpanther:PTHR24377,Gene3D:3.30.160.60 MODERATE 1 SNV 1 PASS GTT . . 150397665 KIF13B . GRCh38 chr8 29071811 29071811 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.5027A>C p.Asn1676Thr p.N1676T ENST00000524189 39/40 72 58 13 25 25 0 KIF13B,missense_variant,p.Asn1676Thr,ENST00000524189,NM_015254.3;KIF13B,missense_variant,p.Asn268Thr,ENST00000523130,;AC108449.3,downstream_gene_variant,,ENST00000560714,;,regulatory_region_variant,,ENSR00000222845,; G ENSG00000197892 ENST00000524189 Transcript missense_variant 5066/8745 5027/5481 1676/1826 N/T aAt/aCt 1 -1 KIF13B HGNC HGNC:14405 protein_coding YES CCDS55217.1 ENSP00000427900 Q9NQT8 UPI000035B257 NM_015254.3 tolerated_low_confidence(0.52) benign(0.015) 39/40 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS ATT . . 29071811 SOX17 . GRCh38 chr8 54459598 54459598 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.848T>G p.Ile283Ser p.I283S ENST00000297316 2/2 132 119 13 44 44 0 SOX17,missense_variant,p.Ile283Ser,ENST00000297316,NM_022454.3;,regulatory_region_variant,,ENSR00000224673,; G ENSG00000164736 ENST00000297316 Transcript missense_variant 1052/2342 848/1245 283/414 I/S aTt/aGt 1 1 SOX17 HGNC HGNC:18122 protein_coding YES CCDS6159.1 ENSP00000297316 Q9H6I2 UPI00001362B7 NM_022454.3 tolerated(0.26) benign(0.001) 2/2 mobidb-lite,PROSITE_profiles:PS51516,hmmpanther:PTHR10270:SF216,hmmpanther:PTHR10270,Gene3D:1.10.30.10 MODERATE 1 SNV 1 1 PASS ATT . . 54459598 TIGD5 . GRCh38 chr8 143598586 143598586 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.683A>C p.Glu228Ala p.E228A ENST00000504548 1/1 77 61 8 28 28 0 TIGD5,missense_variant,p.Glu228Ala,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001960.4,NM_001289950.1;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001317743.1,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000530848,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;,regulatory_region_variant,,ENSR00000232117,; C ENSG00000179886 ENST00000504548 Transcript missense_variant 752/5390 683/1929 228/642 E/A gAg/gCg 1 1 TIGD5 HGNC HGNC:18336 protein_coding YES CCDS6406.2 ENSP00000421489 Q53EQ6 UPI0001BAE24C NM_032862.4 tolerated(0.2) benign(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45428 MODERATE SNV PASS GAG . . 143598586 ARID3C . GRCh38 chr9 34627875 34627875 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.140A>C p.Asn47Thr p.N47T ENST00000378909 1/7 94 80 14 34 33 0 ARID3C,missense_variant,p.Asn47Thr,ENST00000378909,NM_001017363.1; G ENSG00000205143 ENST00000378909 Transcript missense_variant 233/1411 140/1239 47/412 N/T aAt/aCt 1 -1 ARID3C HGNC HGNC:21209 protein_coding YES CCDS35006.1 ENSP00000368189 A6NKF2 UPI0000509F06 NM_001017363.1 tolerated_low_confidence(0.14) benign(0.001) 1/7 hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF2,mobidb-lite MODERATE 1 SNV 2 PASS ATT . . 34627875 MEGF9 . GRCh38 chr9 120714240 120714240 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.119A>C p.Asn40Thr p.N40T ENST00000373930 1/6 67 51 14 34 33 0 MEGF9,missense_variant,p.Asn40Thr,ENST00000373930,NM_001080497.2;,regulatory_region_variant,,ENSR00000240796,; G ENSG00000106780 ENST00000373930 Transcript missense_variant 231/6298 119/1809 40/602 N/T aAt/aCt 1 -1 MEGF9 HGNC HGNC:3234 protein_coding YES CCDS48010.2 ENSP00000363040 Q9H1U4 UPI000045779F NM_001080497.2 deleterious_low_confidence(0) benign(0.221) 1/6 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF298 MODERATE 1 SNV 2 PASS ATT . . 120714240 PROSER2 . GRCh38 chr10 11869984 11869984 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.886T>G p.Phe296Val p.F296V ENST00000277570 4/4 83 70 12 35 34 0 PROSER2,missense_variant,p.Phe296Val,ENST00000277570,NM_153256.3;PROSER2,missense_variant,p.Phe100Val,ENST00000379200,;PROSER2,intron_variant,,ENST00000622831,;PROSER2,downstream_gene_variant,,ENST00000444604,;PROSER2-AS1,intron_variant,,ENST00000445498,;PROSER2-AS1,intron_variant,,ENST00000453242,;PROSER2,downstream_gene_variant,,ENST00000474155,;,regulatory_region_variant,,ENSR00000024485,; G ENSG00000148426 ENST00000277570 Transcript missense_variant 1040/3333 886/1308 296/435 F/V Ttc/Gtc 1 1 PROSER2 HGNC HGNC:23728 protein_coding YES CCDS7085.1 ENSP00000277570 Q86WR7 UPI00001F8B49 NM_153256.3 deleterious(0.04) probably_damaging(0.946) 4/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR16095:SF9,hmmpanther:PTHR16095 MODERATE 1 SNV 1 PASS CTT . . 11869984 HHEX . GRCh38 chr10 92690345 92690345 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.359T>G p.Leu120Arg p.L120R ENST00000282728 1/4 83 65 14 33 33 0 HHEX,missense_variant,p.Leu120Arg,ENST00000282728,NM_002729.4;HHEX,upstream_gene_variant,,ENST00000472590,;HHEX,upstream_gene_variant,,ENST00000492654,;HHEX,splice_region_variant,,ENST00000551454,;,regulatory_region_variant,,ENSR00000031672,; G ENSG00000152804 ENST00000282728 Transcript missense_variant,splice_region_variant 395/1727 359/813 120/270 L/R cTg/cGg 1 1 HHEX HGNC HGNC:4901 protein_coding YES CCDS7423.1 ENSP00000282728 Q03014 UPI000012CA59 NM_002729.4 deleterious(0.02) possibly_damaging(0.511) 1/4 hmmpanther:PTHR24324,hmmpanther:PTHR24324:SF5 MODERATE 1 SNV 1 PASS CTG . . 92690345 MKI67 . GRCh38 chr10 128104840 128104840 + Missense_Mutation SNP C C G rs143179328 7316-196 BS_0MRKTX2B C C c.7000G>C p.Asp2334His p.D2334H ENST00000368654 13/15 54 46 8 33 32 0 MKI67,missense_variant,p.Asp2334His,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Asp1974His,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,; G ENSG00000148773 ENST00000368654 Transcript missense_variant 7376/12678 7000/9771 2334/3256 D/H Gat/Cat rs143179328,COSM5732014 1 -1 MKI67 HGNC HGNC:7107 protein_coding YES CCDS7659.1 ENSP00000357643 P46013 UPI000013DB54 NM_002417.4 tolerated(0.16) possibly_damaging(0.846) 13/15 hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,mobidb-lite,Low_complexity_(Seg):seg 0,1 MODERATE 1 SNV 2 0,1 PASS TCA . . 4.064e-06 0.0001824 128104840 FRG2B . GRCh38 chr10 133625511 133625511 + Missense_Mutation SNP T T C rs75470891 7316-196 BS_0MRKTX2B T T c.425A>G p.Asp142Gly p.D142G ENST00000425520 4/4 100 85 15 50 50 0 FRG2B,missense_variant,p.Asp143Gly,ENST00000443774,;FRG2B,missense_variant,p.Asp142Gly,ENST00000425520,NM_001080998.1;,regulatory_region_variant,,ENSR00000262296,; C ENSG00000225899 ENST00000425520 Transcript missense_variant 478/890 425/837 142/278 D/G gAt/gGt rs75470891,COSM1128093 1 -1 FRG2B HGNC HGNC:33518 protein_coding YES CCDS44502.1 ENSP00000401310 Q96QU4 UPI00000727C6 NM_001080998.1 tolerated(0.35) probably_damaging(0.943) 4/4 Pfam_domain:PF15315,Prints_domain:PR02074,hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF4 0,1 MODERATE 1 SNV 1 0,1 PASS ATC . . 0.003051 0.006176 0.001763 0.001548 0.002804 0.001269 0.001839 0.001678 0.009853 133625511 AHNAK . GRCh38 chr11 62522280 62522280 + Missense_Mutation SNP G G T 7316-196 BS_0MRKTX2B G G c.12137C>A p.Ala4046Asp p.A4046D ENST00000378024 5/5 63 49 6 35 35 0 AHNAK,missense_variant,p.Ala4046Asp,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,; T ENSG00000124942 ENST00000378024 Transcript missense_variant 12412/18787 12137/17673 4046/5890 A/D gCc/gAc COSM6035056,COSM6035055 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 deleterious(0) possibly_damaging(0.466) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41,hmmpanther:PTHR23348:SF41 1,1 MODERATE 1 SNV 2 1,1 PASS GGC . . 62522280 AHNAK . GRCh38 chr11 62528461 62528461 + Missense_Mutation SNP T T C rs543137707 7316-196 BS_0MRKTX2B T T c.5956A>G p.Thr1986Ala p.T1986A ENST00000378024 5/5 77 61 9 25 23 0 AHNAK,missense_variant,p.Thr1986Ala,ENST00000378024,NM_001620.2,NM_001346445.1,NM_001346446.1;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,; C ENSG00000124942 ENST00000378024 Transcript missense_variant 6231/18787 5956/17673 1986/5890 T/A Acc/Gcc rs543137707,COSM5753748,COSM5753747 1 -1 AHNAK HGNC HGNC:347 protein_coding YES CCDS31584.1 ENSP00000367263 Q09666 UPI00004EC29C NM_001620.2,NM_001346445.1,NM_001346446.1 tolerated(1) benign(0.01) 5/5 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41 0.0002 0.0008 0,1,1 MODERATE 1 SNV 2 0,1,1 PASS GTC . . 0.0008408 0.0004625 0.002244 0.0002187 0.001375 0.0002421 0.0008617 0.00256 62528461 RPS6KA4 . GRCh38 chr11 64359237 64359237 + Translation_Start_Site SNP T T G novel 7316-196 BS_0MRKTX2B T T c.2T>G p.Met1? p.M1? ENST00000334205 1/17 84 71 10 47 45 1 RPS6KA4,start_lost,p.Met1?,ENST00000528057,NM_001006944.1,NM_001300802.1;RPS6KA4,start_lost,p.Met1?,ENST00000334205,NM_003942.2,NM_001318361.1;CCDC88B,downstream_gene_variant,,ENST00000301897,;CCDC88B,downstream_gene_variant,,ENST00000356786,NM_032251.5;CCDC88B,downstream_gene_variant,,ENST00000359902,;RPS6KA4,upstream_gene_variant,,ENST00000530504,;CCDC88B,downstream_gene_variant,,ENST00000463837,;CCDC88B,downstream_gene_variant,,ENST00000472524,;CCDC88B,downstream_gene_variant,,ENST00000473405,;CCDC88B,downstream_gene_variant,,ENST00000479965,;CCDC88B,downstream_gene_variant,,ENST00000494080,;RPS6KA4,start_lost,p.Met1?,ENST00000528355,;RPS6KA4,non_coding_transcript_exon_variant,,ENST00000531659,;RPS6KA4,non_coding_transcript_exon_variant,,ENST00000530383,;RPS6KA4,upstream_gene_variant,,ENST00000532496,;RPS6KA4,upstream_gene_variant,,ENST00000532885,;,regulatory_region_variant,,ENSR00000040663,; G ENSG00000162302 ENST00000334205 Transcript start_lost 67/3119 2/2319 1/772 M/R aTg/aGg 1 1 RPS6KA4 HGNC HGNC:10433 protein_coding YES CCDS8073.1 ENSP00000333896 O75676 UPI000006F835 NM_003942.2,NM_001318361.1 deleterious_low_confidence(0) benign(0.113) 1/17 PIRSF_domain:PIRSF000606,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF41 HIGH 1 SNV 1 PASS ATG . . 64359237 NRXN2 . GRCh38 chr11 64607492 64607492 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.4843A>C p.Thr1615Pro p.T1615P ENST00000265459 23/23 83 71 10 26 26 0 NRXN2,missense_variant,p.Thr1615Pro,ENST00000265459,NM_015080.3;NRXN2,missense_variant,p.Thr1545Pro,ENST00000377559,NM_138732.2;NRXN2,missense_variant,p.Thr1608Pro,ENST00000409571,;NRXN2,missense_variant,p.Thr1615Pro,ENST00000377551,;NRXN2,missense_variant,p.Thr569Pro,ENST00000301894,NM_138734.2;NRXN2,non_coding_transcript_exon_variant,,ENST00000475737,;NRXN2,non_coding_transcript_exon_variant,,ENST00000464307,;,regulatory_region_variant,,ENSR00000040694,; G ENSG00000110076 ENST00000265459 Transcript missense_variant 5305/6621 4843/5139 1615/1712 T/P Aca/Cca 1 -1 NRXN2 HGNC HGNC:8009 protein_coding YES CCDS8077.1 ENSP00000265459 Q9P2S2 UPI0000130AA2 NM_015080.3 tolerated_low_confidence(0.12) benign(0.001) 23/23 hmmpanther:PTHR44287,hmmpanther:PTHR44287:SF2,mobidb-lite MODERATE 1 SNV 5 1 PASS GTG . . 64607492 VPS51 . GRCh38 chr11 65096252 65096252 + Translation_Start_Site SNP T T G novel 7316-196 BS_0MRKTX2B T T c.2T>G p.Met1? p.M1? ENST00000279281 1/10 84 71 10 33 32 0 VPS51,start_lost,p.Met1?,ENST00000279281,NM_013265.3;VPS51,start_lost,p.Met1?,ENST00000529180,;VPS51,start_lost,p.Met1?,ENST00000530773,;VPS51,start_lost,p.Met1?,ENST00000639871,;VPS51,missense_variant,p.Met31Arg,ENST00000528588,;VPS51,upstream_gene_variant,,ENST00000526578,;VPS51,upstream_gene_variant,,ENST00000534557,;VPS51,start_lost,p.Met1?,ENST00000534124,;VPS51,start_lost,p.Met1?,ENST00000533487,;VPS51,non_coding_transcript_exon_variant,,ENST00000533656,;VPS51,non_coding_transcript_exon_variant,,ENST00000528050,;,regulatory_region_variant,,ENSR00000040776,; G ENSG00000149823 ENST00000279281 Transcript start_lost 94/2714 2/2349 1/782 M/R aTg/aGg 1 1 VPS51 HGNC HGNC:1172 protein_coding YES CCDS8093.1 ENSP00000279281 Q9UID3 UPI000006D6D8 NM_013265.3 deleterious_low_confidence(0.01) benign(0.013) 1/10 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 65096252 CAPN5 . GRCh38 chr11 77120903 77120903 + Missense_Mutation SNP A A C rs79218583 7316-196 BS_0MRKTX2B A A c.1481A>C p.Asn494Thr p.N494T ENST00000278559 10/13 93 82 7 25 22 2 CAPN5,missense_variant,p.Asn494Thr,ENST00000278559,NM_004055.4;CAPN5,missense_variant,p.Asn534Thr,ENST00000456580,;CAPN5,missense_variant,p.Asn494Thr,ENST00000529629,;CAPN5,intron_variant,,ENST00000531028,;CAPN5,non_coding_transcript_exon_variant,,ENST00000527129,; C ENSG00000149260 ENST00000278559 Transcript missense_variant 1670/4397 1481/1923 494/640 N/T aAc/aCc rs79218583 1 1 CAPN5 HGNC HGNC:1482 protein_coding YES CCDS8248.1 ENSP00000278559 O15484 A0A140VKH4 UPI0000126E9F NM_004055.4 tolerated(0.41) benign(0.056) 10/13 hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF370,SMART_domains:SM00720,Superfamily_domains:SSF49758,cd00214 MODERATE 1 SNV 1 1 PASS AAC . . 0.0001351 0.0001973 0.0001022 0.0002257 0.0002079 0.0001844 77120903 TMEM123 . GRCh38 chr11 102452623 102452623 + Translation_Start_Site SNP T T G novel 7316-196 BS_0MRKTX2B T T c.1A>C p.Met1? p.M1? ENST00000398136 1/5 91 75 11 41 40 0 TMEM123,start_lost,p.Met1?,ENST00000398136,NM_052932.2;TMEM123,start_lost,p.Met1?,ENST00000361236,;TMEM123,upstream_gene_variant,,ENST00000526676,;TMEM123,upstream_gene_variant,,ENST00000528969,;TMEM123,upstream_gene_variant,,ENST00000531103,;TMEM123,upstream_gene_variant,,ENST00000532161,;AP001830.1,upstream_gene_variant,,ENST00000528717,;TMEM123,intron_variant,,ENST00000525577,;TMEM123,upstream_gene_variant,,ENST00000529492,;,regulatory_region_variant,,ENSR00000044024,; G ENSG00000152558 ENST00000398136 Transcript start_lost 422/3579 1/627 1/208 M/L Atg/Ctg 1 -1 TMEM123 HGNC HGNC:30138 protein_coding YES CCDS41702.1 ENSP00000381204 Q8N131 UPI0000035980 NM_052932.2 deleterious_low_confidence(0) benign(0.276) 1/5 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS ATT . . 102452623 FDX1 . GRCh38 chr11 110430239 110430239 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.119A>C p.Asn40Thr p.N40T ENST00000260270 1/4 81 66 12 44 41 0 FDX1,missense_variant,p.Asn40Thr,ENST00000260270,NM_004109.4;,regulatory_region_variant,,ENSR00000044710,; C ENSG00000137714 ENST00000260270 Transcript missense_variant 357/3206 119/555 40/184 N/T aAc/aCc 1 1 FDX1 HGNC HGNC:3638 protein_coding YES CCDS8344.1 ENSP00000260270 P10109 UPI0000125630 NM_004109.4 tolerated(0.65) benign(0) 1/4 hmmpanther:PTHR23426,hmmpanther:PTHR23426:SF26,mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 110430239 C2CD2L . GRCh38 chr11 119107906 119107906 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.165A>C p.Glu55Asp p.E55D ENST00000336702 1/14 65 54 11 34 31 0 C2CD2L,missense_variant,p.Glu55Asp,ENST00000336702,NM_001290474.1,NM_014807.4;DPAGT1,5_prime_UTR_variant,,ENST00000409993,;C2CD2L,upstream_gene_variant,,ENST00000528586,;C2CD2L,downstream_gene_variant,,ENST00000527854,;C2CD2L,downstream_gene_variant,,ENST00000528271,;C2CD2L,downstream_gene_variant,,ENST00000529600,;C2CD2L,downstream_gene_variant,,ENST00000529885,;C2CD2L,downstream_gene_variant,,ENST00000534024,;C2CD2L,upstream_gene_variant,,ENST00000525598,;C2CD2L,upstream_gene_variant,,ENST00000529874,;C2CD2L,upstream_gene_variant,,ENST00000533458,;,regulatory_region_variant,,ENSR00000045727,; C ENSG00000172375 ENST00000336702 Transcript missense_variant 524/4771 165/2124 55/707 E/D gaA/gaC 1 1 C2CD2L HGNC HGNC:29000 protein_coding YES CCDS8413.1 ENSP00000338885 O14523 UPI0000192105 NM_001290474.1,NM_014807.4 tolerated(0.33) benign(0.025) 1/14 hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF8,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 119107906 P3H3 . GRCh38 chr12 6828555 6828555 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.115T>G p.Leu39Val p.L39V ENST00000290510 1/15 81 62 12 24 22 0 P3H3,missense_variant,p.Leu39Val,ENST00000290510,NM_014262.4;GPR162,intron_variant,,ENST00000545321,;GPR162,downstream_gene_variant,,ENST00000311268,NM_019858.1;GPR162,downstream_gene_variant,,ENST00000382315,;GPR162,downstream_gene_variant,,ENST00000428545,NM_014449.1;P3H3,upstream_gene_variant,,ENST00000538102,;GPR162,downstream_gene_variant,,ENST00000541431,;GPR162,downstream_gene_variant,,ENST00000542330,;P3H3,upstream_gene_variant,,ENST00000544813,;GPR162,downstream_gene_variant,,ENST00000535220,;P3H3,upstream_gene_variant,,ENST00000536140,;P3H3,upstream_gene_variant,,ENST00000540406,;P3H3,upstream_gene_variant,,ENST00000541956,;P3H3,upstream_gene_variant,,ENST00000544200,;P3H3,upstream_gene_variant,,ENST00000544949,;P3H3,upstream_gene_variant,,ENST00000612048,;,regulatory_region_variant,,ENSR00000048354,; G ENSG00000110811 ENST00000290510 Transcript missense_variant 146/2632 115/2211 39/736 L/V Ttg/Gtg 1 1 P3H3 HGNC HGNC:19318 protein_coding YES CCDS61027.1 ENSP00000478600 Q8IVL6 UPI000007460A NM_014262.4 deleterious(0.04) benign(0.143) 1/15 Gene3D:1.25.40.10,hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF14,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CTT . . 6828555 KMT2D . GRCh38 chr12 49041040 49041040 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.6730T>G p.Phe2244Val p.F2244V ENST00000301067 31/54 87 74 11 35 34 0 KMT2D,missense_variant,p.Phe2244Val,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,; C ENSG00000167548 ENST00000301067 Transcript missense_variant 6730/19419 6730/16614 2244/5537 F/V Ttc/Gtc 1 -1 KMT2D HGNC HGNC:7133 protein_coding YES CCDS44873.1 ENSP00000301067 O14686 UPI0000EE84D6 NM_003482.3 deleterious(0) possibly_damaging(0.815) 31/54 hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,mobidb-lite MODERATE 1 SNV 5 1 PASS AAT . . 49041040 COQ10A . GRCh38 chr12 56267248 56267248 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.130A>C p.Met44Leu p.M44L ENST00000308197 1/5 82 62 15 29 28 0 COQ10A,missense_variant,p.Met44Leu,ENST00000308197,NM_144576.3;CS,downstream_gene_variant,,ENST00000351328,NM_004077.2;COQ10A,upstream_gene_variant,,ENST00000433805,NM_001099337.1;COQ10A,upstream_gene_variant,,ENST00000546544,;CS,downstream_gene_variant,,ENST00000548567,;CS,downstream_gene_variant,,ENST00000548746,;COQ10A,upstream_gene_variant,,ENST00000551814,;COQ10A,upstream_gene_variant,,ENST00000553234,;AC073896.5,downstream_gene_variant,,ENST00000546464,;COQ10A,non_coding_transcript_exon_variant,,ENST00000551911,;COQ10A,non_coding_transcript_exon_variant,,ENST00000551566,;COQ10A,upstream_gene_variant,,ENST00000546614,;CS,downstream_gene_variant,,ENST00000549143,;COQ10A,upstream_gene_variant,,ENST00000549545,;COQ10A,upstream_gene_variant,,ENST00000550071,;,regulatory_region_variant,,ENSR00000052497,; C ENSG00000135469 ENST00000308197 Transcript missense_variant 391/1652 130/744 44/247 M/L Atg/Ctg 1 1 COQ10A HGNC HGNC:26515 protein_coding YES CCDS41796.1 ENSP00000312587 Q96MF6 UPI000013CF99 NM_144576.3 tolerated(0.34) benign(0) 1/5 hmmpanther:PTHR12901,hmmpanther:PTHR12901:SF8 MODERATE 1 SNV 1 PASS AAT . . 56267248 C12orf75 . GRCh38 chr12 105330905 105330905 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.14A>C p.Asn5Thr p.N5T ENST00000443585 1/6 73 58 10 32 30 0 C12orf75,missense_variant,p.Asn5Thr,ENST00000443585,NM_001145199.1;C12orf75,missense_variant,p.Asn5Thr,ENST00000612117,;C12orf75,missense_variant,p.Asn5Thr,ENST00000549893,;C12orf75,missense_variant,p.Asn5Thr,ENST00000552457,;C12orf75,missense_variant,p.Asn5Thr,ENST00000549934,;AC011313.1,upstream_gene_variant,,ENST00000549251,;C12orf75,intron_variant,,ENST00000548458,;C12orf75,non_coding_transcript_exon_variant,,ENST00000546866,;,regulatory_region_variant,,ENSR00000056699,; C ENSG00000235162 ENST00000443585 Transcript missense_variant 270/1366 14/192 5/63 N/T aAc/aCc 1 1 C12orf75 HGNC HGNC:35164 protein_coding YES CCDS55879.1 ENSP00000448536 Q8TAD7 UPI0000406165 NM_001145199.1 tolerated(0.14) probably_damaging(0.981) 1/6 Pfam_domain:PF15506,hmmpanther:PTHR38502,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS AAC . . 105330905 TMEM119 . GRCh38 chr12 108591883 108591883 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.501T>G p.Asp167Glu p.D167E ENST00000392806 2/2 84 70 14 40 38 1 TMEM119,missense_variant,p.Asp167Glu,ENST00000392806,NM_181724.2;TMEM119,downstream_gene_variant,,ENST00000547567,;TMEM119,downstream_gene_variant,,ENST00000549031,;TMEM119,downstream_gene_variant,,ENST00000549447,; C ENSG00000183160 ENST00000392806 Transcript missense_variant 670/2707 501/852 167/283 D/E gaT/gaG 1 -1 TMEM119 HGNC HGNC:27884 protein_coding YES CCDS9119.1 ENSP00000376553 Q4V9L6 UPI0000049333 NM_181724.2 deleterious(0) probably_damaging(0.971) 2/2 mobidb-lite,hmmpanther:PTHR28645,Pfam_domain:PF15724 MODERATE 1 SNV 1 PASS AAT . . 108591883 LRRC43 . GRCh38 chr12 122183271 122183271 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.127T>G p.Phe43Val p.F43V ENST00000339777 1/12 101 87 14 39 38 1 LRRC43,missense_variant,p.Phe43Val,ENST00000339777,NM_001098519.1,NM_152759.4;LRRC43,intron_variant,,ENST00000537729,;LRRC43,non_coding_transcript_exon_variant,,ENST00000541498,;LRRC43,upstream_gene_variant,,ENST00000538800,;LRRC43,intron_variant,,ENST00000537113,;,regulatory_region_variant,,ENSR00000058565,; G ENSG00000158113 ENST00000339777 Transcript missense_variant 155/2028 127/1971 43/656 F/V Ttc/Gtc 1 1 LRRC43 HGNC HGNC:28562 protein_coding YES CCDS45001.1 ENSP00000344233 Q8N309 UPI00015347BE NM_001098519.1,NM_152759.4 deleterious(0) benign(0.391) 1/12 Gene3D:3.80.10.10,hmmpanther:PTHR44614 MODERATE 1 SNV 5 PASS GTT . . 122183271 DACH1 . GRCh38 chr13 71866553 71866553 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.217A>C p.Thr73Pro p.T73P ENST00000613252 1/11 62 47 9 28 26 1 DACH1,missense_variant,p.Thr73Pro,ENST00000613252,NM_080759.5;DACH1,missense_variant,p.Thr73Pro,ENST00000611519,NM_080760.5;DACH1,missense_variant,p.Thr73Pro,ENST00000620444,NM_004392.6;DACH1,missense_variant,p.Thr73Pro,ENST00000619232,;,regulatory_region_variant,,ENSR00000063548,; G ENSG00000276644 ENST00000613252 Transcript missense_variant 640/5233 217/2121 73/706 T/P Acc/Ccc 1 -1 DACH1 HGNC HGNC:2663 protein_coding YES CCDS41899.1 ENSP00000482245 Q9UI36 UPI000007308B NM_080759.5 deleterious_low_confidence(0.02) benign(0) 1/11 mobidb-lite MODERATE 1 SNV 1 PASS GTA . . 71866553 MYCBP2 . GRCh38 chr13 77326654 77326654 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.8T>G p.Val3Gly p.V3G ENST00000544440 1/83 75 57 15 45 43 0 MYCBP2,missense_variant,p.Val3Gly,ENST00000357337,NM_015057.4;MYCBP2,missense_variant,p.Val3Gly,ENST00000544440,;MYCBP2,non_coding_transcript_exon_variant,,ENST00000491491,;,regulatory_region_variant,,ENSR00000064029,; C ENSG00000005810 ENST00000544440 Transcript missense_variant 26/14664 8/13923 3/4640 V/G gTt/gGt 1 -1 MYCBP2 HGNC HGNC:23386 protein_coding YES ENSP00000444596 O75592 UPI0000212757 tolerated_low_confidence(0.57) benign(0) 1/83 MODERATE 1 SNV 1 PASS AAC . . 77326654 ADPRHL1 . GRCh38 chr13 113405092 113405092 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.4190A>C p.Lys1397Thr p.K1397T ENST00000612156 8/8 93 82 9 48 47 0 ADPRHL1,missense_variant,p.Lys1397Thr,ENST00000612156,; G ENSG00000153531 ENST00000612156 Transcript missense_variant 4277/9759 4190/5904 1397/1967 K/T aAg/aCg 1 -1 ADPRHL1 HGNC HGNC:21303 protein_coding ENSP00000489048 A0A0U1RQK4 UPI000719A14C deleterious_low_confidence(0) possibly_damaging(0.617) 8/8 mobidb-lite MODERATE 1 SNV 5 PASS CTT . . 113405092 FOXG1 . GRCh38 chr14 28767713 28767713 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.434A>C p.Lys145Thr p.K145T ENST00000313071 1/1 73 53 12 27 26 0 FOXG1,missense_variant,p.Lys145Thr,ENST00000313071,NM_005249.4;LINC01551,upstream_gene_variant,,ENST00000399387,;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000637351,;FOXG1,downstream_gene_variant,,ENST00000637817,;,regulatory_region_variant,,ENSR00000067057,; C ENSG00000176165 ENST00000313071 Transcript missense_variant 2326/4890 434/1470 145/489 K/T aAg/aCg 1 1 FOXG1 HGNC HGNC:3811 protein_coding YES CCDS9636.1 ENSP00000339004 P55316 UPI00001AE46C NM_005249.4 tolerated_low_confidence(0.25) benign(0.19) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR11829:SF316,hmmpanther:PTHR11829 MODERATE SNV 1 PASS AAG . . 28767713 CCDC177 . GRCh38 chr14 69572693 69572693 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.930T>G p.His310Gln p.H310Q ENST00000599174 2/2 72 61 11 45 45 0 CCDC177,missense_variant,p.His310Gln,ENST00000599174,NM_001271507.1;,regulatory_region_variant,,ENSR00000070234,; C ENSG00000267909 ENST00000599174 Transcript missense_variant 1254/4131 930/2124 310/707 H/Q caT/caG 1 -1 CCDC177 HGNC HGNC:23243 protein_coding YES CCDS59245.1 ENSP00000469474 Q9NQR7 UPI0000D62424 NM_001271507.1 deleterious(0) probably_damaging(0.995) 2/2 hmmpanther:PTHR33663,hmmpanther:PTHR33663:SF1 MODERATE 1 SNV 3 PASS AAT . . 69572693 GOLGA6L2 . GRCh38 chr15 23440430 23440430 + Missense_Mutation SNP A A G rs1258585282 7316-196 BS_0MRKTX2B A A c.2045T>C p.Val682Ala p.V682A ENST00000567107 8/8 61 39 6 39 31 0 GOLGA6L2,missense_variant,p.Val682Ala,ENST00000567107,NM_001304388.1;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,intron_variant,,ENST00000345070,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; G ENSG00000174450 ENST00000567107 Transcript missense_variant 2098/3030 2045/2730 682/909 V/A gTg/gCg rs1258585282,COSM4148503,COSM4148502 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 deleterious_low_confidence(0) unknown(0) 8/8 Low_complexity_(Seg):seg,mobidb-lite 0,1,1 MODERATE 1 SNV 5 0,1,1 PASS CAC . . 3.44e-05 4.549e-05 0.0001112 23440430 GOLGA6L2 . GRCh38 chr15 23441081 23441081 + Missense_Mutation SNP G G T rs111155255 7316-196 BS_0MRKTX2B G G c.1394C>A p.Thr465Lys p.T465K ENST00000567107 8/8 49 38 5 29 29 0 GOLGA6L2,missense_variant,p.Thr465Lys,ENST00000567107,NM_001304388.1;GOLGA6L2,missense_variant,p.Thr192Lys,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,; T ENSG00000174450 ENST00000567107 Transcript missense_variant 1447/3030 1394/2730 465/909 T/K aCg/aAg rs111155255,COSM5459910,COSM5459909,COSM5459908 1 -1 GOLGA6L2 HGNC HGNC:26695 protein_coding YES CCDS76728.1 ENSP00000454407 H3BMJ4 UPI00024672CE NM_001304388.1 tolerated_low_confidence(1) possibly_damaging(0.742) 8/8 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF21 1 1 1 1 0.999 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 PASS CGT . . 23441081 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 101 73 11 39 36 1 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 CHRNB4 . GRCh38 chr15 78641132 78641132 + Translation_Start_Site SNP A A C novel 7316-196 BS_0MRKTX2B A A c.2T>G p.Met1? p.M1? ENST00000261751 1/6 92 80 9 31 31 0 CHRNB4,start_lost,p.Met1?,ENST00000261751,NM_000750.3;CHRNB4,start_lost,p.Met1?,ENST00000412074,NM_001256567.1;CHRNB4,intron_variant,,ENST00000560511,;CHRNB4,intron_variant,,ENST00000559849,;,regulatory_region_variant,,ENSR00000079768,; C ENSG00000117971 ENST00000261751 Transcript start_lost 114/2623 2/1497 1/498 M/R aTg/aGg 1 -1 CHRNB4 HGNC HGNC:1964 protein_coding YES CCDS10306.1 ENSP00000261751 P30926 UPI0000125276 NM_000750.3 deleterious(0) possibly_damaging(0.599) 1/6 hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF385,Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS CAT . . 78641132 ADAMTS7 . GRCh38 chr15 78765688 78765688 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.4223T>G p.Leu1408Trp p.L1408W ENST00000388820 19/24 95 78 12 40 38 0 ADAMTS7,missense_variant,p.Leu1408Trp,ENST00000388820,NM_014272.4;ADAMTS7,downstream_gene_variant,,ENST00000566303,;ADAMTS7,downstream_gene_variant,,ENST00000565793,;ADAMTS7,upstream_gene_variant,,ENST00000569934,; C ENSG00000136378 ENST00000388820 Transcript missense_variant 4434/5490 4223/5061 1408/1686 L/W tTg/tGg 1 -1 ADAMTS7 HGNC HGNC:223 protein_coding YES CCDS32303.1 ENSP00000373472 Q9UKP4 UPI00002263B3 NM_014272.4 tolerated(0.19) possibly_damaging(0.869) 19/24 hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142 MODERATE 1 SNV 1 PASS CAA . . 78765688 ACAN . GRCh38 chr15 88856926 88856926 + Missense_Mutation SNP G G C rs201505307 7316-196 BS_0MRKTX2B G G c.4341G>C p.Glu1447Asp p.E1447D ENST00000439576 12/18 70 60 10 38 36 0 ACAN,missense_variant,p.Glu1447Asp,ENST00000560601,;ACAN,missense_variant,p.Glu1447Asp,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Glu1428Asp,ENST00000617301,;ACAN,missense_variant,p.Glu1447Asp,ENST00000559004,;ACAN,missense_variant,p.Glu1447Asp,ENST00000561243,;ACAN,missense_variant,p.Glu1447Asp,ENST00000352105,NM_001135.3;,regulatory_region_variant,,ENSR00000278890,; C ENSG00000157766 ENST00000439576 Transcript missense_variant 4715/8840 4341/7593 1447/2530 E/D gaG/gaC rs201505307,COSM6382245,COSM6382244 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 tolerated(0.6) benign(0.001) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42 likely_benign 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS AGA . . 2.448e-05 6.667e-05 3.001e-05 5.811e-05 1.793e-05 3.293e-05 88856926 SOX8 . GRCh38 chr16 984739 984739 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.694A>C p.Lys232Gln p.K232Q ENST00000293894 3/3 63 48 10 45 44 1 SOX8,missense_variant,p.Lys232Gln,ENST00000293894,NM_014587.4;LMF1,upstream_gene_variant,,ENST00000570014,;AC009041.2,upstream_gene_variant,,ENST00000562570,;AC009041.2,upstream_gene_variant,,ENST00000563837,;AC009041.2,upstream_gene_variant,,ENST00000563863,;AC009041.2,upstream_gene_variant,,ENST00000565069,;AC009041.2,upstream_gene_variant,,ENST00000565467,;AC009041.2,upstream_gene_variant,,ENST00000568394,;SOX8,non_coding_transcript_exon_variant,,ENST00000566034,;LMF1,upstream_gene_variant,,ENST00000545827,NM_001352017.1; C ENSG00000005513 ENST00000293894 Transcript missense_variant 809/3049 694/1341 232/446 K/Q Aag/Cag 1 1 SOX8 HGNC HGNC:11203 protein_coding YES CCDS10428.1 ENSP00000293894 P57073 UPI00000015FB NM_014587.4 deleterious(0.01) probably_damaging(0.992) 3/3 hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF20,mobidb-lite MODERATE 1 SNV 1 PASS CAA . . 984739 AC004233.2 . GRCh38 chr16 2995404 2995404 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.520T>G p.Leu174Val p.L174V ENST00000573315 15/35 93 77 9 31 30 0 AC004233.2,missense_variant,p.Leu174Val,ENST00000573315,;LINC00514,downstream_gene_variant,,ENST00000573465,;LINC00514,downstream_gene_variant,,ENST00000571152,;LINC00514,downstream_gene_variant,,ENST00000572266,; G ENSG00000270168 ENST00000573315 Transcript missense_variant,splice_region_variant 541/2062 520/1611 174/536 L/V Tta/Gta 1 1 AC004233.2 Clone_based_ensembl_gene protein_coding YES ENSP00000488558 A0A0J9YXV3 UPI00064546FC tolerated(0.12) benign(0.099) 15/35 MODERATE SNV 5 PASS ATT . . 2995404 CES1P1 . GRCh38 chr16 55764909 55764918 + Splice_Region DEL GCCAGGGGTG GCCAGGGGTG - rs201354842 7316-196 BS_0MRKTX2B GCCAGGGGTG GCCAGGGGTG n.303+7_303+16del ENST00000571348 37 30 7 23 23 0 CES1P1,splice_region_variant,,ENST00000571348,;CES1P1,splice_region_variant,,ENST00000574030,;CES1P1,intron_variant,,ENST00000573705,;CES1P1,splice_region_variant,,ENST00000421606,; - ENSG00000228695 ENST00000571348 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs201354842 1 1 CES1P1 HGNC HGNC:18546 processed_transcript YES 2/5 0.4814 0.5537 0.5231 0.2391 0.6501 0.4305 LOW 1 deletion 1 2 PASS AAGCCAGGGGTGG . . 55764908 SLC12A4 . GRCh38 chr16 67968654 67968654 + Translation_Start_Site SNP T T G novel 7316-196 BS_0MRKTX2B T T c.1A>C p.Met1? p.M1? ENST00000422611 1/23 66 53 10 35 31 0 SLC12A4,start_lost,p.Met1?,ENST00000422611,NM_001145962.1;SLC12A4,5_prime_UTR_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,intron_variant,,ENST00000571299,;SLC12A4,upstream_gene_variant,,ENST00000537830,NM_001145963.1;SLC12A4,upstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,upstream_gene_variant,,ENST00000572037,;SLC12A4,upstream_gene_variant,,ENST00000576616,;SLC12A4,intron_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000570802,;SLC12A4,upstream_gene_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000576462,;,regulatory_region_variant,,ENSR00000087209,; G ENSG00000124067 ENST00000422611 Transcript start_lost 41/4670 1/3264 1/1087 M/L Atg/Ctg 1 -1 SLC12A4 HGNC HGNC:10913 protein_coding YES CCDS54032.1 ENSP00000395983 Q9UP95 UPI00019863A8 NM_001145962.1 possibly_damaging(0.455) 1/23 mobidb-lite HIGH 1 SNV 2 PASS ATT . . 67968654 C17orf97 . GRCh38 chr17 413771 413771 + Missense_Mutation SNP A A C 7316-196 BS_0MRKTX2B A A c.928A>C p.Lys310Gln p.K310Q ENST00000360127 2/2 38 21 6 27 26 0 C17orf97,missense_variant,p.Lys310Gln,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC141424.1,intron_variant,,ENST00000466740,;AC141424.1,upstream_gene_variant,,ENST00000599026,;AC141424.1,upstream_gene_variant,,ENST00000629249,;C17orf97,upstream_gene_variant,,ENST00000629953,;C17orf97,upstream_gene_variant,,ENST00000575151,; C ENSG00000187624 ENST00000360127 Transcript missense_variant 944/1839 928/1272 310/423 K/Q Aag/Cag COSM4408087 1 1 C17orf97 HGNC HGNC:33800 protein_coding YES CCDS32519.2 ENSP00000353245 Q6ZQX7 A0A0H4IV28 UPI0001AE65CA NM_001013672.4 tolerated_low_confidence(0.61) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR36474 1 MODERATE 1 SNV 1 1 PASS CAA . . 413771 ETV4 . GRCh38 chr17 43533883 43533883 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.359A>C p.His120Pro p.H120P ENST00000319349 6/13 80 65 14 31 31 0 ETV4,missense_variant,p.His120Pro,ENST00000319349,NM_001079675.2;ETV4,missense_variant,p.His120Pro,ENST00000393664,;ETV4,missense_variant,p.His81Pro,ENST00000538265,NM_001261438.1;ETV4,missense_variant,p.His81Pro,ENST00000545954,NM_001261437.1;ETV4,missense_variant,p.His120Pro,ENST00000591713,NM_001986.2;ETV4,missense_variant,p.His120Pro,ENST00000545089,;DHX8,intron_variant,,ENST00000589898,;ETV4,upstream_gene_variant,,ENST00000586826,NM_001261439.1;ETV4,non_coding_transcript_exon_variant,,ENST00000585508,;ETV4,non_coding_transcript_exon_variant,,ENST00000590236,;ETV4,downstream_gene_variant,,ENST00000587151,; G ENSG00000175832 ENST00000319349 Transcript missense_variant 658/2429 359/1455 120/484 H/P cAt/cCt 1 -1 ETV4 HGNC HGNC:3493 protein_coding YES CCDS11465.1 ENSP00000321835 P43268 UPI0000000236 NM_001079675.2 tolerated(0.13) possibly_damaging(0.767) 6/13 Pfam_domain:PF04621,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF181 MODERATE 1 SNV 1 1 PASS ATG . . 43533883 FMNL1 . GRCh38 chr17 45222200 45222200 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.76A>C p.Lys26Gln p.K26Q ENST00000331495 1/27 75 57 11 26 26 0 FMNL1,missense_variant,p.Lys26Gln,ENST00000331495,NM_005892.3;FMNL1,intron_variant,,ENST00000328118,;AC008105.3,non_coding_transcript_exon_variant,,ENST00000591365,;AC008105.3,upstream_gene_variant,,ENST00000585471,;AC008105.3,upstream_gene_variant,,ENST00000586376,;AC008105.3,upstream_gene_variant,,ENST00000590495,;AC008105.3,upstream_gene_variant,,ENST00000590522,;FMNL1,downstream_gene_variant,,ENST00000592415,;,regulatory_region_variant,,ENSR00000283521,; C ENSG00000184922 ENST00000331495 Transcript missense_variant 412/4101 76/3303 26/1100 K/Q Aag/Cag 1 1 FMNL1 HGNC HGNC:1212 protein_coding YES CCDS11497.1 ENSP00000329219 O95466 UPI0000246EE9 NM_005892.3 tolerated(0.12) possibly_damaging(0.781) 1/27 hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS CAA . . 45222200 PPM1E . GRCh38 chr17 58756192 58756192 + Missense_Mutation SNP A A C rs745942068 7316-196 BS_0MRKTX2B A A c.195A>C p.Glu65Asp p.E65D ENST00000308249 1/7 74 58 15 42 42 0 PPM1E,missense_variant,p.Glu65Asp,ENST00000308249,NM_014906.4;,regulatory_region_variant,,ENSR00000096303,; C ENSG00000175175 ENST00000308249 Transcript missense_variant 324/6542 195/2268 65/755 E/D gaA/gaC rs745942068 1 1 PPM1E HGNC HGNC:19322 protein_coding YES CCDS11613.1 ENSP00000312411 Q8WY54 UPI000013ECF6 NM_014906.4 tolerated_low_confidence(0.2) benign(0) 1/7 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS AAC . . 6.396e-06 4.176e-05 58756192 PHLPP1 . GRCh38 chr18 62716900 62716900 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.1217T>G p.Leu406Arg p.L406R ENST00000262719 1/17 84 69 12 35 35 0 PHLPP1,missense_variant,p.Leu406Arg,ENST00000262719,NM_194449.3;,regulatory_region_variant,,ENSR00000104398,; G ENSG00000081913 ENST00000262719 Transcript missense_variant 1451/6390 1217/5154 406/1717 L/R cTt/cGt 1 1 PHLPP1 HGNC HGNC:20610 protein_coding YES CCDS45881.2 ENSP00000262719 O60346 UPI000051AE2E NM_194449.3 tolerated_low_confidence(0.3) benign(0.02) 1/17 mobidb-lite MODERATE 1 SNV 1 PASS CTT . . 62716900 PLIN4 . GRCh38 chr19 4512060 4512060 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.1858A>C p.Ile620Leu p.I620L ENST00000301286 3/6 83 64 7 36 35 0 PLIN4,missense_variant,p.Ile635Leu,ENST00000633942,;PLIN4,missense_variant,p.Ile620Leu,ENST00000301286,NM_001080400.1; G ENSG00000167676 ENST00000301286 Transcript missense_variant 1858/6353 1858/4074 620/1357 I/L Atc/Ctc 1 -1 PLIN4 HGNC HGNC:29393 protein_coding YES CCDS45927.1 ENSP00000301286 Q96Q06 UPI00001D822A NM_001080400.1 tolerated(0.08) benign(0) 3/6 Gene3D:1.20.120.20,hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF31 MODERATE 1 SNV 5 PASS ATG . . 4512060 ZNF66 . GRCh38 chr19 20806756 20806756 + Missense_Mutation SNP G G T novel 7316-196 BS_0MRKTX2B G G c.1156G>T p.Ala386Ser p.A386S ENST00000344519 4/4 65 55 8 49 48 0 ZNF66,missense_variant,p.Ala386Ser,ENST00000344519,; T ENSG00000160229 ENST00000344519 Transcript missense_variant 1179/1745 1156/1722 386/573 A/S Gca/Tca 1 1 ZNF66 HGNC HGNC:13135 protein_coding YES ENSP00000461425 Q6ZN08 UPI00025A2C0A tolerated(0.37) benign(0.003) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 3 PASS TGC . . 20806756 ZNF208 . GRCh38 chr19 21972188 21972188 + Missense_Mutation SNP G G T rs1422274026 7316-196 BS_0MRKTX2B G G c.2846C>A p.Ala949Glu p.A949E ENST00000397126 4/4 60 49 9 35 33 0 ZNF208,missense_variant,p.Ala949Glu,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Ala849Glu,ENST00000609966,;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;AC003973.3,upstream_gene_variant,,ENST00000624863,; T ENSG00000160321 ENST00000397126 Transcript missense_variant 2995/3992 2846/3843 949/1280 A/E gCa/gAa rs1422274026,COSM6451460,COSM6451459,COSM6451458 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(1) benign(0.009) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,hmmpanther:PTHR24384:SF116,hmmpanther:PTHR24384:SF116,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355 0,1,1,1 MODERATE 1 SNV 3 0,1,1,1 PASS TGC . . 21972188 ZNF208 . GRCh38 chr19 21973607 21973607 + Missense_Mutation SNP T T G rs145224729 7316-196 BS_0MRKTX2B T T c.1427A>C p.Asn476Thr p.N476T ENST00000397126 4/4 55 50 5 41 39 0 ZNF208,missense_variant,p.Asn476Thr,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,NM_001329974.1;ZNF208,intron_variant,,ENST00000609966,; G ENSG00000160321 ENST00000397126 Transcript missense_variant 1576/3992 1427/3843 476/1280 N/T aAt/aCt rs145224729,COSM6263883 1 -1 ZNF208 HGNC HGNC:12999 protein_coding YES CCDS54240.1 ENSP00000380315 O43345 UPI0001B23C28 NM_007153.3 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,hmmpanther:PTHR24384:SF116,Gene3D:2.20.25.10,Superfamily_domains:SSF57667 0.0030 0.0149 0,1 MODERATE 1 SNV 3 0,1 PASS ATT . . 0.0003848 0.004287 0.0002698 2.719e-05 0.0001836 0.0003578 21973607 SBSN . GRCh38 chr19 35527136 35527136 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.1146A>C p.Glu382Asp p.E382D ENST00000452271 1/4 79 56 6 39 34 0 SBSN,missense_variant,p.Glu382Asp,ENST00000452271,NM_001166034.1;SBSN,intron_variant,,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1; G ENSG00000189001 ENST00000452271 Transcript missense_variant 1175/1945 1146/1773 382/590 E/D gaA/gaC 1 -1 SBSN HGNC HGNC:24950 protein_coding YES CCDS54253.1 ENSP00000430242 Q6UWP8 UPI000059D6E7 NM_001166034.1 deleterious(0.03) benign(0.053) 1/4 Gene3D:1.20.120.20,hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3 MODERATE 1 SNV 1 PASS CTT . . 35527136 RYR1 . GRCh38 chr19 38485999 38485999 + Missense_Mutation SNP T T G 7316-196 BS_0MRKTX2B T T c.5344T>G p.Phe1782Val p.F1782V ENST00000359596 34/106 81 66 12 26 25 0 RYR1,missense_variant,p.Phe1782Val,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Phe1782Val,ENST00000359596,NM_000540.2; G ENSG00000196218 ENST00000359596 Transcript missense_variant 5344/15117 5344/15117 1782/5038 F/V Ttc/Gtc COSM6878929 1 1 RYR1 HGNC HGNC:10483 protein_coding YES CCDS33011.1 ENSP00000352608 P21817 UPI0000D7E62F NM_000540.2 tolerated(0.08) benign(0.097) 34/106 hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Gene3D:1.10.238.10 1 MODERATE 1 SNV 5 1 1 PASS TTT . . 38485999 SELENOV . GRCh38 chr19 39515514 39515514 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.302T>G p.Val101Gly p.V101G ENST00000335426 1/6 104 91 11 37 35 0 SELENOV,missense_variant,p.Val101Gly,ENST00000335426,NM_182704.1;SELENOV,missense_variant,p.Val101Gly,ENST00000622070,;SELENOV,missense_variant,p.Val101Gly,ENST00000423711,;SELENOV,non_coding_transcript_exon_variant,,ENST00000597876,;SELENOV,upstream_gene_variant,,ENST00000600586,;,regulatory_region_variant,,ENSR00000109437,; G ENSG00000186838 ENST00000335426 Transcript missense_variant 402/1704 302/1041 101/346 V/G gTt/gGt 1 1 SELENOV HGNC HGNC:30399 protein_coding YES CCDS54266.1 ENSP00000333956 P59797 UPI00001B2974 NM_182704.1 deleterious(0) benign(0.003) 1/6 Low_complexity_(Seg):seg,hmmpanther:PTHR15124:SF17,hmmpanther:PTHR15124,Prints_domain:PR01217 MODERATE 1 SNV 1 PASS GTT . . 39515514 CYP2S1 . GRCh38 chr19 41198827 41198827 + Missense_Mutation SNP A A C rs776426211 7316-196 BS_0MRKTX2B A A c.773A>C p.Asn258Thr p.N258T ENST00000310054 5/9 88 75 11 34 33 0 CYP2S1,missense_variant,p.Asn258Thr,ENST00000310054,NM_030622.7;CYP2S1,intron_variant,,ENST00000597754,;CYP2S1,intron_variant,,ENST00000600561,;CYP2S1,upstream_gene_variant,,ENST00000593890,;CYP2S1,intron_variant,,ENST00000593545,;CYP2S1,intron_variant,,ENST00000595590,; C ENSG00000167600 ENST00000310054 Transcript missense_variant 989/2782 773/1515 258/504 N/T aAc/aCc rs776426211 1 1 CYP2S1 HGNC HGNC:15654 protein_coding YES CCDS12573.1 ENSP00000308032 Q96SQ9 UPI00000467C9 NM_030622.7 tolerated(1) benign(0.001) 5/9 Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF23,Superfamily_domains:SSF48264 MODERATE 1 SNV 1 PASS AAC . . 8.125e-06 1.791e-05 41198827 ZNF224 . GRCh38 chr19 44107382 44107382 + Missense_Mutation SNP G G A rs1329476541 7316-196 BS_0MRKTX2B G G c.1222G>A p.Gly408Arg p.G408R ENST00000336976 6/6 70 58 7 30 29 0 ZNF224,missense_variant,p.Gly408Arg,ENST00000336976,NM_013398.3,NM_001321645.1;ZNF225,upstream_gene_variant,,ENST00000589155,;ZNF224,downstream_gene_variant,,ENST00000591511,;AC021092.1,non_coding_transcript_exon_variant,,ENST00000592946,;AC021092.1,downstream_gene_variant,,ENST00000590369,;ZNF224,non_coding_transcript_exon_variant,,ENST00000591551,; A ENSG00000267680 ENST00000336976 Transcript missense_variant 1476/3980 1222/2124 408/707 G/R Gga/Aga rs1329476541 1 1 ZNF224 HGNC HGNC:13017 protein_coding YES CCDS33046.1 ENSP00000337368 Q9NZL3 UPI00002025B3 NM_013398.3,NM_001321645.1 tolerated(0.08) benign(0.159) 6/6 Gene3D:2.40.155.10,PDB-ENSP_mappings:2enc.A,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF44,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AGG . . 44107382 LENG8 . GRCh38 chr19 54456363 54456363 + Missense_Mutation SNP A A C rs1350597442 7316-196 BS_0MRKTX2B A A c.1343A>C p.Asn448Thr p.N448T ENST00000326764 10/16 83 70 11 23 23 0 LENG8,missense_variant,p.Asn448Thr,ENST00000610347,;LENG8,missense_variant,p.Asn411Thr,ENST00000376514,;LENG8,missense_variant,p.Asn448Thr,ENST00000326764,NM_052925.3;LENG8,missense_variant,p.Asn411Thr,ENST00000616932,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000439657,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,downstream_gene_variant,,ENST00000462541,; C ENSG00000167615 ENST00000326764 Transcript missense_variant 1822/3991 1343/2403 448/800 N/T aAt/aCt rs1350597442 1 1 LENG8 HGNC HGNC:15500 protein_coding YES CCDS12894.1 ENSP00000318374 Q96PV6 A0A024R4R9 UPI0000074196 NM_052925.3 tolerated(0.19) benign(0.005) 10/16 hmmpanther:PTHR12436,hmmpanther:PTHR12436:SF4,mobidb-lite MODERATE 1 SNV 1 PASS AAT . . 4.086e-06 2.981e-05 54456363 ZFP28 . GRCh38 chr19 56554897 56554897 + Missense_Mutation SNP G G T novel 7316-196 BS_0MRKTX2B G G c.2112G>T p.Met704Ile p.M704I ENST00000301318 8/8 76 69 7 29 29 0 ZFP28,missense_variant,p.Met704Ile,ENST00000301318,NM_020828.1;ZFP28,downstream_gene_variant,,ENST00000591844,NM_001308440.1;AC005498.3,intron_variant,,ENST00000596587,;ZFP28,downstream_gene_variant,,ENST00000588163,; T ENSG00000196867 ENST00000301318 Transcript missense_variant 2183/4096 2112/2607 704/868 M/I atG/atT 1 1 ZFP28 HGNC HGNC:17801 protein_coding YES CCDS12946.1 ENSP00000301318 Q8NHY6 UPI000006D90E NM_020828.1 tolerated(0.52) benign(0.001) 8/8 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF720,hmmpanther:PTHR24377:SF720,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TGG . . 56554897 ZNF135 . GRCh38 chr19 58067500 58067500 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.1088T>G p.Ile363Ser p.I363S ENST00000401053 4/4 81 67 6 38 38 0 ZNF135,missense_variant,p.Ile297Ser,ENST00000506786,NM_001289402.1;ZNF135,missense_variant,p.Ile363Ser,ENST00000401053,NM_001164527.1,NM_007134.1,NM_001164529.1;ZNF135,missense_variant,p.Ile339Ser,ENST00000313434,NM_001289401.1;ZNF135,missense_variant,p.Ile351Ser,ENST00000511556,NM_003436.3;ZNF135,missense_variant,p.Ile351Ser,ENST00000359978,NM_001164530.1;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,; G ENSG00000176293 ENST00000401053 Transcript missense_variant 1091/3346 1088/2049 363/682 I/S aTc/aGc 1 1 ZNF135 HGNC HGNC:12919 protein_coding YES CCDS54329.1 ENSP00000441410 P52742 UPI0001B3CB2A NM_001164527.1,NM_007134.1,NM_001164529.1 tolerated(0.73) benign(0.013) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF236,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS ATC . . 58067500 ZNF544 . GRCh38 chr19 58261858 58261858 + Missense_Mutation SNP A A T rs1318311059 7316-196 BS_0MRKTX2B A A c.1252A>T p.Thr418Ser p.T418S ENST00000269829 4/4 80 71 8 28 27 0 ZNF544,missense_variant,p.Thr418Ser,ENST00000269829,;ZNF544,missense_variant,p.Thr390Ser,ENST00000600220,NM_001320773.1,NM_001320771.1;ZNF544,missense_variant,p.Thr418Ser,ENST00000596652,NM_001320769.1,NM_001320787.1,NM_001320774.1,NM_014480.3,NM_001320767.1,NM_001320777.1,NM_001320786.1,NM_001320785.1;ZNF544,missense_variant,p.Thr390Ser,ENST00000600044,NM_001320770.1;ZNF544,missense_variant,p.Thr276Ser,ENST00000599953,;ZNF544,3_prime_UTR_variant,,ENST00000599227,NM_001320791.1,NM_001320792.1,NM_001320788.1;ZNF544,3_prime_UTR_variant,,ENST00000596825,NM_001320789.1,NM_001320781.1;ZNF544,intron_variant,,ENST00000595981,;ZNF544,intron_variant,,ENST00000596929,NM_001320782.1;ZNF544,downstream_gene_variant,,ENST00000594384,;AC020915.3,intron_variant,,ENST00000597230,;AC020915.2,upstream_gene_variant,,ENST00000595301,;ZNF544,downstream_gene_variant,,ENST00000598880,;ZNF544,3_prime_UTR_variant,,ENST00000596677,;AC020915.5,intron_variant,,ENST00000637233,;AC020915.5,intron_variant,,ENST00000637310,; T ENSG00000198131 ENST00000269829 Transcript missense_variant 1313/3547 1252/2148 418/715 T/S Acc/Tcc rs1318311059 1 1 ZNF544 HGNC HGNC:16759 protein_coding YES CCDS12973.1 ENSP00000269829 Q6NX49 UPI000013D856 tolerated(1) benign(0.021) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CAC . . 58261858 ZNF837 . GRCh38 chr19 58368761 58368761 + Missense_Mutation SNP T T G novel 7316-196 BS_0MRKTX2B T T c.572A>C p.Asn191Thr p.N191T ENST00000427624 3/3 83 69 12 42 42 0 ZNF837,missense_variant,p.Asn191Thr,ENST00000427624,;ZNF837,missense_variant,p.Asn191Thr,ENST00000597582,NM_138466.1;AC012313.6,downstream_gene_variant,,ENST00000599889,;,regulatory_region_variant,,ENSR00000111870,;,regulatory_region_variant,,ENSR00000289356,; G ENSG00000152475 ENST00000427624 Transcript missense_variant 895/2038 572/1596 191/531 N/T aAc/aCc 1 -1 ZNF837 HGNC HGNC:25164 protein_coding YES CCDS46216.1 ENSP00000405699 Q96EG3 UPI00001C2012 tolerated(1) benign(0.007) 3/3 hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF624 MODERATE 1 SNV 1 PASS GTT . . 58368761 COL20A1 . GRCh38 chr20 63311516 63311516 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.1516A>C p.Lys506Gln p.K506Q ENST00000358894 12/36 104 83 17 29 28 1 COL20A1,missense_variant,p.Lys513Gln,ENST00000422202,;COL20A1,missense_variant,p.Lys506Gln,ENST00000358894,NM_020882.2;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,; C ENSG00000101203 ENST00000358894 Transcript missense_variant 1616/4172 1516/3855 506/1284 K/Q Aag/Cag 1 1 COL20A1 HGNC HGNC:14670 protein_coding YES CCDS46628.1 ENSP00000351767 Q9P218 UPI000051910D NM_020882.2 tolerated(0.46) benign(0.157) 12/36 Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR44557,SMART_domains:SM00060,Superfamily_domains:SSF49265,cd00063 MODERATE 1 SNV 1 PASS CAA . . 63311516 RTEL1 . GRCh38 chr20 63674075 63674075 + Missense_Mutation SNP G G A rs201365106 7316-196 BS_0MRKTX2B G G c.901G>A p.Ala301Thr p.A301T ENST00000360203 10/35 88 69 16 42 40 1 RTEL1,missense_variant,p.Ala301Thr,ENST00000370018,NM_016434.3;RTEL1,missense_variant,p.Ala301Thr,ENST00000360203,NM_001283009.1;RTEL1,missense_variant,p.Ala325Thr,ENST00000508582,NM_032957.4;RTEL1,missense_variant,p.Ala78Thr,ENST00000318100,NM_001283010.1;RTEL1,missense_variant,p.Ala351Thr,ENST00000356810,;RTEL1,downstream_gene_variant,,ENST00000463361,;RTEL1-TNFRSF6B,missense_variant,p.Ala301Thr,ENST00000492259,;RTEL1,missense_variant,p.Ala301Thr,ENST00000482936,; A ENSG00000258366 ENST00000360203 Transcript missense_variant 1244/4630 901/3903 301/1300 A/T Gcg/Acg rs201365106,COSM5133507,COSM5133506,COSM1495123 1 1 RTEL1 HGNC HGNC:15888 protein_coding YES CCDS63331.1 ENSP00000353332 Q9NZ71 UPI00002063E3 NM_001283009.1 tolerated(0.6) benign(0.001) 10/35 Gene3D:3.40.50.300,HAMAP:MF_03065,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF34,mobidb-lite 0,1,1,1 MODERATE 1 SNV 5 0,1,1,1 1 PASS CGC . . 8.243e-06 4.532e-05 3.277e-05 63674075 DHRSX . GRCh38 chrX 2500916 2500916 + Missense_Mutation SNP A A C novel 7316-196 BS_0MRKTX2B A A c.10T>G p.Leu4Val p.L4V ENST00000334651 1/7 84 70 12 27 25 0 DHRSX,missense_variant,p.Leu4Val,ENST00000334651,NM_145177.2;DHRSX,missense_variant,p.Leu4Val,ENST00000412516,;ZBED1,5_prime_UTR_variant,,ENST00000381223,NM_001171136.1;ZBED1,5_prime_UTR_variant,,ENST00000381222,NM_004729.3;ZBED1,upstream_gene_variant,,ENST00000381218,NM_001171135.1;DHRSX,upstream_gene_variant,,ENST00000444280,;ZBED1,upstream_gene_variant,,ENST00000461691,;DHRSX,non_coding_transcript_exon_variant,,ENST00000430536,;DHRSX,intron_variant,,ENST00000441131,;DHRSX,upstream_gene_variant,,ENST00000478825,;,regulatory_region_variant,,ENSR00000243838,; C ENSG00000169084 ENST00000334651 Transcript missense_variant 63/2571 10/993 4/330 L/V Ttg/Gtg 1 -1 DHRSX HGNC HGNC:18399 protein_coding YES CCDS35195.1 ENSP00000334113 Q8N5I4 UPI0000D61D1C NM_145177.2 deleterious(0.04) benign(0.089) 1/7 MODERATE 1 SNV 1 PASS AAT . . 2500916 SLC35E2A . GRCh38 chr1 1734736 1734736 + Missense_Mutation SNP C C T rs61777509 7316-117 BS_98RN7Y9D C C c.686G>A p.Arg229His p.R229H ENST00000643905 5/6 40 26 13 33 32 0 SLC35E2A,missense_variant,p.Arg229His,ENST00000643905,NM_182838.2;SLC35E2A,missense_variant,p.Arg229His,ENST00000355439,NM_001199787.1;AL031282.2,non_coding_transcript_exon_variant,,ENST00000598846,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000647043,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000246421,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000475229,;AL031282.1,intron_variant,,ENST00000424604,;AL031282.1,intron_variant,,ENST00000577672,;AL031282.1,downstream_gene_variant,,ENST00000417099,;SLC35E2A,non_coding_transcript_exon_variant,,ENST00000643943,;AL031282.1,upstream_gene_variant,,ENST00000418950,; T ENSG00000215790 ENST00000643905 Transcript missense_variant 1109/6293 686/801 229/266 R/H cGt/cAt rs61777509,COSM4142977 1 -1 SLC35E2A HGNC HGNC:20863 protein_coding YES CCDS33.1 ENSP00000495949 UPI000006FA83 NM_182838.2 tolerated_low_confidence(0.23) possibly_damaging(0.477) 5/6 mobidb-lite,hmmpanther:PTHR44413,hmmpanther:PTHR44413:SF1 0,1 MODERATE SNV 0,1 PASS ACG . . 0.3075 0.08801 0.2931 0.3425 0.1221 0.4248 0.3581 0.3075 0.2544 1734736 HFM1 . GRCh38 chr1 91316481 91316481 + Splice_Region SNP G G A rs558684042 7316-117 BS_98RN7Y9D G G c.2813-5C>T ENST00000370425 75 64 6 46 45 0 HFM1,splice_region_variant,,ENST00000370425,NM_001017975.4;HFM1,splice_region_variant,,ENST00000430465,;HFM1,splice_region_variant,,ENST00000462405,;HFM1,intron_variant,,ENST00000497520,; A ENSG00000162669 ENST00000370425 Transcript splice_region_variant,intron_variant rs558684042 1 -1 HFM1 HGNC HGNC:20193 protein_coding YES CCDS30769.2 ENSP00000359454 A2PYH4 UPI0000F51F79 NM_001017975.4 25/38 LOW 1 SNV 1 1 PASS TGG . . 91316481 KIRREL1 . GRCh38 chr1 158088428 158088428 + Missense_Mutation SNP A A C novel 7316-117 BS_98RN7Y9D A A c.1018A>C p.Thr340Pro p.T340P ENST00000359209 8/15 81 56 8 36 30 0 KIRREL1,missense_variant,p.Thr240Pro,ENST00000368173,NM_001286349.1;KIRREL1,missense_variant,p.Thr138Pro,ENST00000368172,;KIRREL1,missense_variant,p.Thr176Pro,ENST00000360089,;KIRREL1,missense_variant,p.Thr340Pro,ENST00000359209,NM_018240.6; C ENSG00000183853 ENST00000359209 Transcript missense_variant 1085/2874 1018/2274 340/757 T/P Acc/Ccc 1 1 KIRREL1 HGNC HGNC:15734 protein_coding YES CCDS1172.2 ENSP00000352138 Q96J84 UPI0000443FBD NM_018240.6 deleterious(0.01) benign(0.137) 8/15 PROSITE_profiles:PS50835,cd00096,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF14,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 PASS CAC . . 158088428 AC026412.1 . GRCh38 chr5 1632643 1632643 + Splice_Site SNP C C G rs71597631 7316-117 BS_98RN7Y9D C C n.368+1G>C ENST00000507841 101 69 30 41 39 2 AC026412.1,splice_donor_variant,,ENST00000343123,;AC026412.1,splice_donor_variant,,ENST00000507290,;AC026412.1,splice_donor_variant,,ENST00000507841,;AC026412.1,splice_donor_variant,,ENST00000512335,;AC026412.1,splice_donor_variant,,ENST00000522848,;AC026412.1,intron_variant,,ENST00000507505,;,regulatory_region_variant,,ENSR00000177584,;AC026412.1,intron_variant,,ENST00000502273,; G ENSG00000188002 ENST00000507841 Transcript splice_donor_variant,non_coding_transcript_variant rs71597631 1 -1 AC026412.1 Clone_based_ensembl_gene processed_transcript YES 3/6 HIGH 1 SNV 1 PASS ACC . . 1632643 TNRC18 . GRCh38 chr7 5312897 5312899 + In_Frame_Del DEL GAG GAG - rs767903230 7316-117 BS_98RN7Y9D GAG GAG c.7992_7994del p.Ser2671del p.S2671del ENST00000430969 27/30 80 69 5 37 34 0 TNRC18,inframe_deletion,p.Ser2671del,ENST00000399537,;TNRC18,inframe_deletion,p.Ser2671del,ENST00000430969,NM_001080495.2;TNRC18,downstream_gene_variant,,ENST00000328270,; - ENSG00000182095 ENST00000430969 Transcript inframe_deletion 8341-8343/10562 7992-7994/8907 2664-2665/2968 SS/S tcCTCt/tct rs767903230,COSM247941,COSM247940,COSM247939 1 -1 TNRC18 HGNC HGNC:11962 protein_coding YES CCDS47534.1 ENSP00000395538 O15417 UPI00016632FD NM_001080495.2 27/30 hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF21,mobidb-lite,Low_complexity_(Seg):seg 0.01619 0.0145 0,1,1,1 MODERATE 1 deletion 5 0,1,1,1 PASS AAGAGG . . 0.002647 0.001653 0.002029 0.00583 0.001427 0.003665 0.002896 0.003459 0.002166 5312896 SLC35G5 . GRCh38 chr8 11332020 11332020 + Missense_Mutation SNP T T C rs62488716 7316-117 BS_98RN7Y9D T T c.914T>C p.Val305Ala p.V305A ENST00000382435 1/1 95 79 11 34 34 0 SLC35G5,missense_variant,p.Val305Ala,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;,regulatory_region_variant,,ENSR00000329884,; C ENSG00000177710 ENST00000382435 Transcript missense_variant 1133/1321 914/1017 305/338 V/A gTg/gCg rs62488716,COSM4593558 1 1 SLC35G5 HGNC HGNC:15546 protein_coding YES CCDS5980.1 ENSP00000371872 Q96KT7 UPI0000071B8F NM_054028.1 tolerated(0.35) possibly_damaging(0.484) 1/1 hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Superfamily_domains:SSF103481 0,1 MODERATE SNV 0,1 PASS GTG . . 0.001862 0.0001339 0.0009706 0.0006698 0.004659 0.003283 0.001965 0.001793 0.001478 11332020 EPPK1 . GRCh38 chr8 143859307 143859307 + Missense_Mutation SNP G G T rs1363241838 7316-117 BS_98RN7Y9D G G c.13947C>A p.Asp4649Glu p.D4649E ENST00000615648 2/2 55 47 8 43 43 0 EPPK1,missense_variant,p.Asp4649Glu,ENST00000615648,NM_031308.3;EPPK1,missense_variant,p.Asp4624Glu,ENST00000568225,;,regulatory_region_variant,,ENSR00000333972,; T ENSG00000261150 ENST00000615648 Transcript missense_variant 14019/16002 13947/15267 4649/5088 D/E gaC/gaA rs1363241838 1 -1 EPPK1 HGNC HGNC:15577 protein_coding YES CCDS75800.1 ENSP00000484472 P58107 UPI0002065B93 NM_031308.3 tolerated(0.72) possibly_damaging(0.631) 2/2 Gene3D:3.90.1290.10,hmmpanther:PTHR44968,hmmpanther:PTHR44968:SF2 MODERATE 1 SNV 5 PASS GGT . . 143859307 PSMA1 . GRCh38 chr11 14517987 14517987 + Splice_Region SNP G G A rs1368075419 7316-117 BS_98RN7Y9D G G c.67-6C>T ENST00000418988 88 75 8 53 52 1 PSMA1,splice_region_variant,,ENST00000396394,NM_002786.3;PSMA1,splice_region_variant,,ENST00000418988,NM_148976.2;PSMA1,splice_region_variant,,ENST00000530457,;PSMA1,splice_region_variant,,ENST00000532256,;PSMA1,splice_region_variant,,ENST00000533068,;PSMA1,splice_region_variant,,ENST00000526443,;PSMA1,splice_region_variant,,ENST00000528307,;PSMA1,splice_region_variant,,ENST00000531156,;PSMA1,splice_region_variant,,ENST00000533331,;AC018523.2,splice_region_variant,,ENST00000555531,;PSMA1,upstream_gene_variant,,ENST00000527632,;PSMA1,upstream_gene_variant,,ENST00000529524,;PSMA1,upstream_gene_variant,,ENST00000531023,; A ENSG00000129084 ENST00000418988 Transcript splice_region_variant,intron_variant rs1368075419 1 -1 PSMA1 HGNC HGNC:9530 protein_coding YES CCDS31431.1 ENSP00000414359 P25786 UPI000002B1AC NM_148976.2 3/10 LOW 1 SNV 1 PASS AGA . . 0.0006294 0.00137 0.0003387 0.0002449 0.0002696 0.0004992 0.0007395 0.0005011 14517987 INO80 . GRCh38 chr15 41049302 41049302 + Missense_Mutation SNP T T C rs138784219 7316-117 BS_98RN7Y9D T T c.2561A>G p.Asn854Ser p.N854S ENST00000361937 21/36 84 76 7 39 39 0 INO80,missense_variant,p.Asn854Ser,ENST00000361937,NM_017553.2;INO80,missense_variant,p.Asn854Ser,ENST00000401393,;INO80,5_prime_UTR_variant,,ENST00000616814,;INO80,missense_variant,p.Asn854Ser,ENST00000558357,;INO80,downstream_gene_variant,,ENST00000559995,; C ENSG00000128908 ENST00000361937 Transcript missense_variant 2986/6439 2561/4671 854/1556 N/S aAt/aGt rs138784219 1 -1 INO80 HGNC HGNC:26956 protein_coding YES CCDS10071.1 ENSP00000355205 Q9ULG1 A0A024R9R7 UPI00001B6AFC NM_017553.2 tolerated(0.84) benign(0.006) 21/36 hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF868 0.0002326 MODERATE 1 SNV 5 PASS ATT . . 4.076e-05 0.0001309 2.997e-05 3.59e-05 0.0001832 6.545e-05 41049302 TBKBP1 . GRCh38 chr17 47708778 47708778 + Missense_Mutation SNP T T C rs913132859 7316-117 BS_98RN7Y9D T T c.1045T>C p.Ser349Pro p.S349P ENST00000361722 8/9 34 27 6 18 17 0 TBKBP1,missense_variant,p.Ser349Pro,ENST00000361722,NM_014726.2;TBKBP1,intron_variant,,ENST00000622396,;,regulatory_region_variant,,ENSR00000095201,; C ENSG00000198933 ENST00000361722 Transcript missense_variant 1894/4121 1045/1848 349/615 S/P Tcc/Ccc rs913132859,COSM6409093,COSM6409092 1 1 TBKBP1 HGNC HGNC:30140 protein_coding YES CCDS45722.1 ENSP00000354777 A7MCY6 UPI000006E6FC NM_014726.2 deleterious(0.05) possibly_damaging(0.665) 8/9 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14432,hmmpanther:PTHR14432:SF2 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS CTC . . 7.798e-05 0.0002301 47708778 MED13 . GRCh38 chr17 61955484 61955484 + Missense_Mutation SNP A A C rs1367047163 7316-117 BS_98RN7Y9D A A c.5866T>G p.Ser1956Ala p.S1956A ENST00000397786 26/30 84 66 14 43 43 0 MED13,missense_variant,p.Ser1956Ala,ENST00000397786,NM_005121.2;MED13,non_coding_transcript_exon_variant,,ENST00000582786,; C ENSG00000108510 ENST00000397786 Transcript missense_variant 5943/10465 5866/6525 1956/2174 S/A Tca/Gca rs1367047163 1 -1 MED13 HGNC HGNC:22474 protein_coding YES CCDS42366.1 ENSP00000380888 Q9UHV7 A0A024QZ75 UPI0000D7D6F6 NM_005121.2 deleterious(0) probably_damaging(0.987) 26/30 Pfam_domain:PF06333,hmmpanther:PTHR10791,hmmpanther:PTHR10791:SF51 MODERATE 1 SNV 1 PASS GAT . . 0.0001335 0.0003146 0.0009065 7.279e-05 0.000187 61955484 CNN2 . GRCh38 chr19 1037671 1037671 + Missense_Mutation SNP A A G rs199840457 7316-117 BS_98RN7Y9D A A c.764A>G p.Lys255Arg p.K255R ENST00000562958 7/7 87 72 13 47 45 0 CNN2,missense_variant,p.Lys255Arg,ENST00000562958,NM_001303501.1;CNN2,missense_variant,p.Lys234Arg,ENST00000263097,NM_004368.3;CNN2,missense_variant,p.Lys223Arg,ENST00000565096,NM_001303499.1;CNN2,missense_variant,p.Lys195Arg,ENST00000348419,NM_201277.2;CNN2,missense_variant,p.Lys171Arg,ENST00000566695,;CNN2,3_prime_UTR_variant,,ENST00000568865,;ABCA7,upstream_gene_variant,,ENST00000263094,NM_019112.3;ABCA7,upstream_gene_variant,,ENST00000433129,;ABCA7,upstream_gene_variant,,ENST00000435683,;ABCA7,upstream_gene_variant,,ENST00000524850,;ABCA7,upstream_gene_variant,,ENST00000531467,;CNN2,downstream_gene_variant,,ENST00000562015,;CNN2,downstream_gene_variant,,ENST00000562075,;CNN2,downstream_gene_variant,,ENST00000606983,;CNN2,downstream_gene_variant,,ENST00000607102,;ABCA7,upstream_gene_variant,,ENST00000611490,;AC011558.1,downstream_gene_variant,,ENST00000623459,;CNN2,non_coding_transcript_exon_variant,,ENST00000564572,;ABCA7,upstream_gene_variant,,ENST00000525238,;ABCA7,upstream_gene_variant,,ENST00000526885,;ABCA7,upstream_gene_variant,,ENST00000527496,;ABCA7,upstream_gene_variant,,ENST00000530703,;CNN2,downstream_gene_variant,,ENST00000569352,; G ENSG00000064666 ENST00000562958 Transcript missense_variant 797/2194 764/993 255/330 K/R aAg/aGg rs199840457,COSM1599995 1 1 CNN2 HGNC HGNC:2156 protein_coding YES CCDS77205.1 ENSP00000456436 B4DUT8 UPI00017A7FF4 NM_001303501.1 tolerated(0.07) probably_damaging(0.939) 7/7 hmmpanther:PTHR18959,hmmpanther:PTHR18959:SF47 0,1 MODERATE 1 SNV 2 0,1 PASS AAG . . 0.0001693 0.0004146 0.0003216 1037671 RPS15 . GRCh38 chr19 1440069 1440069 + Missense_Mutation SNP G G C rs201657403 7316-117 BS_98RN7Y9D G G c.161G>C p.Arg54Pro p.R54P ENST00000593052 3/4 76 66 8 33 33 0 RPS15,missense_variant,p.Arg20Pro,ENST00000592623,;RPS15,missense_variant,p.Arg14Pro,ENST00000591804,;RPS15,missense_variant,p.Arg54Pro,ENST00000593052,NM_001308226.1;RPS15,missense_variant,p.Arg47Pro,ENST00000586096,;RPS15,missense_variant,p.Arg14Pro,ENST00000586686,;RPS15,missense_variant,p.Arg37Pro,ENST00000591032,;RPS15,missense_variant,p.Arg20Pro,ENST00000233609,;RPS15,missense_variant,p.Arg47Pro,ENST00000592588,NM_001018.4;RPS15,missense_variant,p.Arg47Pro,ENST00000589656,;RPS15,missense_variant,p.Arg14Pro,ENST00000585665,;RPS15,missense_variant,p.Arg14Pro,ENST00000586656,;DAZAP1,downstream_gene_variant,,ENST00000233078,NM_018959.3,NM_001352033.1;DAZAP1,downstream_gene_variant,,ENST00000336761,NM_170711.2;DAZAP1,downstream_gene_variant,,ENST00000587079,;DAZAP1,downstream_gene_variant,,ENST00000592522,NM_001352034.1;RPS15,downstream_gene_variant,,ENST00000617694,;AC027307.3,upstream_gene_variant,,ENST00000594262,;RPS15,non_coding_transcript_exon_variant,,ENST00000592700,;DAZAP1,downstream_gene_variant,,ENST00000585485,;DAZAP1,downstream_gene_variant,,ENST00000589484,;DAZAP1,downstream_gene_variant,,ENST00000589874,; C ENSG00000115268 ENST00000593052 Transcript missense_variant 299/629 161/459 54/152 R/P cGg/cCg rs201657403,COSM231393 1 1 RPS15 HGNC HGNC:10388 protein_coding YES CCDS77210.1 ENSP00000466010 K7ELC2 UPI0000D4C6EE NM_001308226.1 tolerated(0.08) benign(0.01) 3/4 Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,HAMAP:MF_00531,hmmpanther:PTHR11880:SF2,hmmpanther:PTHR11880,TIGRFAM_domain:TIGR01025,PIRSF_domain:PIRSF002144,Pfam_domain:PF00203,Gene3D:3.30.860.10 benign 0,1 MODERATE SNV 2 0,1 1 PASS CGG . . 0.0257 0.01741 0.004505 0.005842 0.02072 0.1037 0.03236 0.01127 0.006926 1440069 ZNF57 . GRCh38 chr19 2917903 2917903 + Missense_Mutation SNP A A G rs1021909561 7316-117 BS_98RN7Y9D A A c.1282A>G p.Thr428Ala p.T428A ENST00000306908 4/4 74 59 10 51 50 1 ZNF57,missense_variant,p.Thr428Ala,ENST00000306908,NM_173480.2;ZNF57,missense_variant,p.Thr430Ala,ENST00000614108,;ZNF57,missense_variant,p.Thr396Ala,ENST00000523428,NM_001319083.1;ZNF57,downstream_gene_variant,,ENST00000522294,;ZNF57,downstream_gene_variant,,ENST00000590305,;AC119403.1,intron_variant,,ENST00000520090,; G ENSG00000171970 ENST00000306908 Transcript missense_variant 1430/2003 1282/1668 428/555 T/A Acc/Gcc rs1021909561,COSM3892201 1 1 ZNF57 HGNC HGNC:13125 protein_coding YES CCDS12098.1 ENSP00000303696 Q68EA5 A5HJR3 UPI000006FE5C NM_173480.2 tolerated(1) benign(0.003) 4/4 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF9,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS AAC . . 2917903 KCNC3 . GRCh38 chr19 50320357 50320357 + Splice_Region SNP T T G rs775357041 7316-117 BS_98RN7Y9D T T c.2171-8A>C ENST00000477616 40 30 7 14 14 0 KCNC3,splice_region_variant,,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000376959,;KCNC3,intron_variant,,ENST00000474951,; G ENSG00000131398 ENST00000477616 Transcript splice_region_variant,intron_variant rs775357041,COSM3746502 1 -1 KCNC3 HGNC HGNC:6235 protein_coding YES CCDS12793.1 ENSP00000434241 Q14003 UPI000013EA5D NM_004977.2 3/4 0,1 LOW 1 SNV 1 0,1 1 PASS GTG . . 0.003985 0.001729 0.0001384 0.003472 0.0007471 0.04485 0.006906 0.004699 0.001224 50320357 PPP2R1A . GRCh38 chr19 52212729 52212729 + Missense_Mutation SNP C C T rs1057519946 7316-117 BS_98RN7Y9D C C c.547C>T p.Arg183Trp p.R183W ENST00000322088 5/15 75 43 27 35 35 0 PPP2R1A,missense_variant,p.Arg183Trp,ENST00000322088,NM_014225.5;PPP2R1A,missense_variant,p.Arg4Trp,ENST00000462990,;PPP2R1A,missense_variant,p.Arg223Trp,ENST00000454220,;PPP2R1A,downstream_gene_variant,,ENST00000473455,;PPP2R1A,downstream_gene_variant,,ENST00000495876,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000462047,;PPP2R1A,downstream_gene_variant,,ENST00000468280,;PPP2R1A,upstream_gene_variant,,ENST00000473820,;PPP2R1A,downstream_gene_variant,,ENST00000490868,; T ENSG00000105568 ENST00000322088 Transcript missense_variant 605/5380 547/1770 183/589 R/W Cgg/Tgg rs1057519946,COSM51211,COSM51210 1 1 PPP2R1A HGNC HGNC:9302 protein_coding YES CCDS12849.1 ENSP00000324804 P30153 A8K7B7 UPI000006EB9C NM_014225.5 deleterious(0) probably_damaging(0.996) 5/15 Gene3D:1.25.10.10,PDB-ENSP_mappings:1b3u.A,PDB-ENSP_mappings:1b3u.B,PDB-ENSP_mappings:2ie3.A,PDB-ENSP_mappings:2ie4.A,PDB-ENSP_mappings:2npp.A,PDB-ENSP_mappings:2npp.D,PDB-ENSP_mappings:2nyl.A,PDB-ENSP_mappings:2nyl.D,PDB-ENSP_mappings:2nym.A,PDB-ENSP_mappings:2nym.D,PDB-ENSP_mappings:2pkg.A,PDB-ENSP_mappings:2pkg.B,PDB-ENSP_mappings:3c5w.A,PDB-ENSP_mappings:3dw8.A,PDB-ENSP_mappings:3dw8.D,PDB-ENSP_mappings:3k7v.A,PDB-ENSP_mappings:3k7w.A,PDB-ENSP_mappings:4i5l.A,PDB-ENSP_mappings:4i5l.D,PDB-ENSP_mappings:4i5n.A,PDB-ENSP_mappings:4i5n.D,PDB-ENSP_mappings:5w0w.A,PDB-ENSP_mappings:5w0w.D,PDB-ENSP_mappings:5w0w.G,PDB-ENSP_mappings:5w0w.J,Pfam_domain:PF13646,PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF2,Superfamily_domains:SSF48371 likely_pathogenic 1,1,1 MODERATE 1 SNV 1 1,1,1 1 PASS GCG . . 52212729 SLC25A5 . GRCh38 chrX 119470067 119470067 + Missense_Mutation SNP T T C rs200606066 7316-117 BS_98RN7Y9D T T c.518T>C p.Leu173Pro p.L173P ENST00000317881 2/4 39 30 6 23 23 0 SLC25A5,missense_variant,p.Leu173Pro,ENST00000317881,NM_001152.4;SLC25A5-AS1,upstream_gene_variant,,ENST00000445759,;SLC25A5-AS1,upstream_gene_variant,,ENST00000446986,;SLC25A5-AS1,upstream_gene_variant,,ENST00000609227,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000460013,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000475354,;SLC25A5,upstream_gene_variant,,ENST00000463551,;SLC25A5-AS1,upstream_gene_variant,,ENST00000395539,; C ENSG00000005022 ENST00000317881 Transcript missense_variant 634/1274 518/897 173/298 L/P cTg/cCg rs200606066,COSM4591859 1 1 SLC25A5 HGNC HGNC:10991 protein_coding YES CCDS14578.1 ENSP00000360671 P05141 UPI000013C4ED NM_001152.4 deleterious(0.01) probably_damaging(0.997) 2/4 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF612,Pfam_domain:PF00153,Gene3D:1.50.40.10,Superfamily_domains:SSF103506 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 119470067 SLC25A5 . GRCh38 chrX 119470097 119470097 + Missense_Mutation SNP G G T rs200974395 7316-117 BS_98RN7Y9D G G c.548G>T p.Gly183Val p.G183V ENST00000317881 2/4 42 35 6 21 21 0 SLC25A5,missense_variant,p.Gly183Val,ENST00000317881,NM_001152.4;SLC25A5-AS1,upstream_gene_variant,,ENST00000445759,;SLC25A5-AS1,upstream_gene_variant,,ENST00000446986,;SLC25A5-AS1,upstream_gene_variant,,ENST00000609227,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000460013,;SLC25A5,non_coding_transcript_exon_variant,,ENST00000475354,;SLC25A5,upstream_gene_variant,,ENST00000463551,;SLC25A5-AS1,upstream_gene_variant,,ENST00000395539,; T ENSG00000005022 ENST00000317881 Transcript missense_variant 664/1274 548/897 183/298 G/V gGt/gTt rs200974395,COSM4591444 1 1 SLC25A5 HGNC HGNC:10991 protein_coding YES CCDS14578.1 ENSP00000360671 P05141 UPI000013C4ED NM_001152.4 deleterious(0) probably_damaging(0.996) 2/4 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF612,Pfam_domain:PF00153,Gene3D:1.50.40.10,Superfamily_domains:SSF103506,Prints_domain:PR00926 0,1 MODERATE 1 SNV 1 0,1 PASS GGT . . 3.56e-05 0.0004306 1.316e-05 119470097 ARHGEF19 . GRCh38 chr1 16206946 16206946 + Splice_Site SNP A A C novel 7316-938 BS_MTDQBCQK A A c.1137+2T>G p.X379_splice ENST00000270747 78 60 13 39 36 1 ARHGEF19,splice_donor_variant,,ENST00000270747,NM_153213.3;ARHGEF19,upstream_gene_variant,,ENST00000441785,;ARHGEF19,upstream_gene_variant,,ENST00000449495,;ARHGEF19,splice_donor_variant,,ENST00000471928,;ARHGEF19,splice_donor_variant,,ENST00000478117,;ARHGEF19,upstream_gene_variant,,ENST00000478210,;,regulatory_region_variant,,ENSR00000002032,; C ENSG00000142632 ENST00000270747 Transcript splice_donor_variant 1 -1 ARHGEF19 HGNC HGNC:26604 protein_coding YES CCDS170.1 ENSP00000270747 Q8IW93 UPI0000074533 NM_153213.3 6/15 HIGH 1 SNV 1 PASS CAC . . 16206946 KLF18 . GRCh38 chr1 44139732 44139732 + Missense_Mutation SNP C C T rs1337587726 7316-938 BS_MTDQBCQK C C c.1900G>A p.Ala634Thr p.A634T ENST00000634670 1/2 48 25 8 41 37 1 KLF18,missense_variant,p.Ala634Thr,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; T ENSG00000283039 ENST00000634670 Transcript missense_variant 1900/3159 1900/3159 634/1052 A/T Gct/Act rs1337587726 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.41) unknown(0) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GCA . . 44139732 KLF18 . GRCh38 chr1 44140247 44140247 + Missense_Mutation SNP G G A rs369289885 7316-938 BS_MTDQBCQK G G c.1385C>T p.Thr462Met p.T462M ENST00000634670 1/2 53 39 6 40 40 0 KLF18,missense_variant,p.Thr462Met,ENST00000634670,NM_001358438.1; A ENSG00000283039 ENST00000634670 Transcript missense_variant 1385/3159 1385/3159 462/1052 T/M aCg/aTg rs369289885 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated_low_confidence(0.28) unknown(0) 1/2 hmmpanther:PTHR21533,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21,hmmpanther:PTHR21533:SF21 MODERATE 1 SNV 5 PASS CGT . . 44140247 PTCH2 . GRCh38 chr1 44827481 44827481 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.2292T>G p.Ser764Arg p.S764R ENST00000372192 15/22 98 88 9 50 50 0 PTCH2,missense_variant,p.Ser764Arg,ENST00000447098,NM_001166292.1;PTCH2,missense_variant,p.Ser764Arg,ENST00000372192,NM_003738.4;PTCH2,upstream_gene_variant,,ENST00000438067,;,regulatory_region_variant,,ENSR00000005801,; C ENSG00000117425 ENST00000372192 Transcript missense_variant 2423/4225 2292/3612 764/1203 S/R agT/agG 1 -1 PTCH2 HGNC HGNC:9586 protein_coding YES CCDS516.1 ENSP00000361266 Q9Y6C5 UPI00001328B8 NM_003738.4 tolerated(0.26) benign(0.317) 15/22 hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF62,TIGRFAM_domain:TIGR00918 MODERATE 1 SNV 1 1 PASS AAC . . 44827481 TCHH . GRCh38 chr1 152108526 152108526 + Missense_Mutation SNP C C A rs879174342 7316-938 BS_MTDQBCQK C C c.4691G>T p.Arg1564Leu p.R1564L ENST00000614923 3/3 71 53 8 41 41 0 TCHH,missense_variant,p.Arg1564Leu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Arg1564Leu,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,;,TF_binding_site_variant,,MA0139.1,; A ENSG00000159450 ENST00000614923 Transcript missense_variant 4786/6995 4691/5832 1564/1943 R/L cGc/cTc rs879174342,COSM6507740,COSM3740655 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.78) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GCG . . 152108526 TCHH . GRCh38 chr1 152111684 152111684 + Missense_Mutation SNP T T G 7316-938 BS_MTDQBCQK T T c.1533A>C p.Gln511His p.Q511H ENST00000614923 3/3 58 35 9 29 26 0 TCHH,missense_variant,p.Gln511His,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Gln511His,ENST00000368804,;,regulatory_region_variant,,ENSR00000013722,; G ENSG00000159450 ENST00000614923 Transcript missense_variant 1628/6995 1533/5832 511/1943 Q/H caA/caC COSM6235235 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 benign(0.005) 3/3 Low_complexity_(Seg):seg,mobidb-lite,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855 1 MODERATE 1 SNV 5 1 1 PASS CTT . . 152111684 FLG2 . GRCh38 chr1 152351309 152351309 + Missense_Mutation SNP C C G rs772162157 7316-938 BS_MTDQBCQK C C c.6477G>C p.Gln2159His p.Q2159H ENST00000388718 3/3 65 56 5 52 51 1 FLG2,missense_variant,p.Gln2159His,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; G ENSG00000143520 ENST00000388718 Transcript missense_variant 6550/9124 6477/7176 2159/2391 Q/H caG/caC rs772162157,COSM6664595,COSM6664588 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.22) benign(0.082) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1,1 MODERATE SNV 5 0,1,1 1 PASS ACT . . 4.065e-06 3.25e-05 152351309 FLG2 . GRCh38 chr1 152352835 152352835 + Missense_Mutation SNP A A T rs776296902 7316-938 BS_MTDQBCQK A A c.4951T>A p.Ser1651Thr p.S1651T ENST00000388718 3/3 69 60 8 53 51 0 FLG2,missense_variant,p.Ser1651Thr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; T ENSG00000143520 ENST00000388718 Transcript missense_variant 5024/9124 4951/7176 1651/2391 S/T Tct/Act rs776296902 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(0.24) benign(0.043) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS GAT . . 152352835 FLG2 . GRCh38 chr1 152354793 152354793 + Missense_Mutation SNP T T A novel 7316-938 BS_MTDQBCQK T T c.2993A>T p.Asn998Ile p.N998I ENST00000388718 3/3 49 30 8 40 37 1 FLG2,missense_variant,p.Asn998Ile,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 3066/9124 2993/7176 998/2391 N/I aAt/aTt 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 deleterious(0.01) benign(0.009) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 MODERATE SNV 5 1 PASS ATT . . 152354793 FLG2 . GRCh38 chr1 152355334 152355334 + Missense_Mutation SNP C C A rs201979853 7316-938 BS_MTDQBCQK C C c.2452G>T p.Ala818Ser p.A818S ENST00000388718 3/3 87 71 13 31 31 0 FLG2,missense_variant,p.Ala818Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; A ENSG00000143520 ENST00000388718 Transcript missense_variant 2525/9124 2452/7176 818/2391 A/S Gct/Tct rs201979853,COSM5950887 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS GCG . . 2.404e-05 0.0001749 1.012e-05 0.0002303 3.854e-05 152355334 LAMC1 . GRCh38 chr1 183023718 183023718 + Translation_Start_Site SNP T T G novel 7316-938 BS_MTDQBCQK T T c.2T>G p.Met1? p.M1? ENST00000258341 1/28 66 58 7 42 40 0 LAMC1,start_lost,p.Met1?,ENST00000258341,NM_002293.3;,regulatory_region_variant,,ENSR00000016778,; G ENSG00000135862 ENST00000258341 Transcript start_lost 259/7889 2/4830 1/1609 M/R aTg/aGg 1 1 LAMC1 HGNC HGNC:6492 protein_coding YES CCDS1351.1 ENSP00000258341 P11047 UPI000013CFC7 NM_002293.3 deleterious_low_confidence(0) benign(0) 1/28 Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257 HIGH 1 SNV 1 PASS ATG . . 183023718 BATF3 . GRCh38 chr1 212699701 212699701 + Missense_Mutation SNP T T G rs888365358 7316-938 BS_MTDQBCQK T T c.62A>C p.Asn21Thr p.N21T ENST00000243440 1/3 62 49 9 35 34 0 BATF3,missense_variant,p.Asn21Thr,ENST00000243440,NM_018664.2;BATF3,upstream_gene_variant,,ENST00000478275,;,regulatory_region_variant,,ENSR00000019755,; G ENSG00000123685 ENST00000243440 Transcript missense_variant 285/980 62/384 21/127 N/T aAc/aCc rs888365358 1 -1 BATF3 HGNC HGNC:28915 protein_coding YES CCDS1508.1 ENSP00000243440 Q9NR55 UPI000006F080 NM_018664.2 tolerated_low_confidence(0.19) benign(0.054) 1/3 hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF13,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 212699701 VASH2 . GRCh38 chr1 212951586 212951586 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.44A>C p.Lys15Thr p.K15T ENST00000517399 1/7 82 69 10 32 31 0 VASH2,missense_variant,p.Lys15Thr,ENST00000366965,NM_024749.4;VASH2,missense_variant,p.Lys15Thr,ENST00000366964,;VASH2,missense_variant,p.Lys15Thr,ENST00000517399,NM_001301056.1;VASH2,splice_region_variant,,ENST00000366968,NM_001136474.2;VASH2,splice_region_variant,,ENST00000490792,;VASH2,intron_variant,,ENST00000366966,;VASH2,intron_variant,,ENST00000366967,NM_001136475.2;VASH2,non_coding_transcript_exon_variant,,ENST00000493155,;VASH2,intron_variant,,ENST00000271776,;,regulatory_region_variant,,ENSR00000019783,; C ENSG00000143494 ENST00000517399 Transcript missense_variant 44/1068 44/1068 15/355 K/T aAa/aCa 1 1 VASH2 HGNC HGNC:25723 protein_coding YES CCDS73026.1 ENSP00000428324 Q86V25 UPI0000205E4B NM_001301056.1 deleterious_low_confidence(0.02) benign(0.346) 1/7 mobidb-lite,hmmpanther:PTHR15750:SF4,hmmpanther:PTHR15750 MODERATE 1 SNV 1 PASS AAA . . 212951586 ZNF678 . GRCh38 chr1 227655455 227655455 + Missense_Mutation SNP T T A rs1277783057 7316-938 BS_MTDQBCQK T T c.1205T>A p.Val402Glu p.V402E ENST00000343776 4/4 64 52 10 40 38 1 ZNF678,missense_variant,p.Val402Glu,ENST00000343776,;ZNF678,missense_variant,p.Val402Glu,ENST00000397097,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,NM_178549.3;ZNF678,downstream_gene_variant,,ENST00000465266,; A ENSG00000181450 ENST00000343776 Transcript missense_variant 1550/8556 1205/1578 402/525 V/E gTg/gAg rs1277783057,COSM1723409,COSM1723408 1 1 ZNF678 HGNC HGNC:28652 protein_coding YES ENSP00000344828 Q5SXM1 UPI000019862A tolerated(1) benign(0.007) 4/4 Gene3D:2.20.25.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF714,hmmpanther:PTHR24377:SF714,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GTG . . 4.138e-06 3.327e-05 227655455 IBA57 . GRCh38 chr1 228165836 228165836 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.20T>G p.Leu7Arg p.L7R ENST00000366711 1/3 94 76 10 40 39 0 IBA57,missense_variant,p.Leu7Arg,ENST00000366711,NM_001010867.3;IBA57-DT,upstream_gene_variant,,ENST00000366713,;IBA57-DT,upstream_gene_variant,,ENST00000496552,;,regulatory_region_variant,,ENSR00000021272,; G ENSG00000181873 ENST00000366711 Transcript missense_variant 22/7817 20/1071 7/356 L/R cTt/cGt 1 1 IBA57 HGNC HGNC:27302 protein_coding YES CCDS31046.1 ENSP00000355672 Q5T440 UPI0000160A21 NM_001010867.3 deleterious_low_confidence(0) benign(0.1) 1/3 MODERATE 1 SNV 2 1 PASS CTT . . 228165836 CCSAP . GRCh38 chr1 229342184 229342184 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.282A>C p.Glu94Asp p.E94D ENST00000284617 2/4 95 79 13 41 41 0 CCSAP,missense_variant,p.Glu94Asp,ENST00000284617,NM_145257.4;CCSAP,missense_variant,p.Glu94Asp,ENST00000366687,;CCSAP,upstream_gene_variant,,ENST00000366686,;CCSAP,non_coding_transcript_exon_variant,,ENST00000483092,;,regulatory_region_variant,,ENSR00000021471,; G ENSG00000154429 ENST00000284617 Transcript missense_variant 360/5121 282/813 94/270 E/D gaA/gaC 1 -1 CCSAP HGNC HGNC:29578 protein_coding YES CCDS1577.1 ENSP00000284617 Q6IQ19 UPI0000071365 NM_145257.4 tolerated(0.46) benign(0.003) 2/4 Pfam_domain:PF15748,hmmpanther:PTHR31022,hmmpanther:PTHR31022:SF4,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 PASS GTT . . 229342184 HNRNPU . GRCh38 chr1 244864059 244864059 + Missense_Mutation SNP A A C 7316-938 BS_MTDQBCQK A A c.249T>G p.Asp83Glu p.D83E ENST00000640218 1/14 72 61 9 28 28 0 HNRNPU,missense_variant,p.Asp83Glu,ENST00000640218,NM_031844.2;HNRNPU,missense_variant,p.Asp83Glu,ENST00000444376,NM_004501.3;HNRNPU,missense_variant,p.Asp83Glu,ENST00000283179,;HNRNPU,missense_variant,p.Asp11Glu,ENST00000638475,;HNRNPU,upstream_gene_variant,,ENST00000440865,;HNRNPU,upstream_gene_variant,,ENST00000483966,;HNRNPU,upstream_gene_variant,,ENST00000638716,;HNRNPU,upstream_gene_variant,,ENST00000639628,;HNRNPU,upstream_gene_variant,,ENST00000640001,;BX323046.1,upstream_gene_variant,,ENST00000610145,;HNRNPU,upstream_gene_variant,,ENST00000465881,;HNRNPU,missense_variant,p.Asp83Glu,ENST00000640306,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000638952,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000476241,;HNRNPU,upstream_gene_variant,,ENST00000366525,;HNRNPU,upstream_gene_variant,,ENST00000468690,;HNRNPU,upstream_gene_variant,,ENST00000638230,;HNRNPU,upstream_gene_variant,,ENST00000638301,;HNRNPU,upstream_gene_variant,,ENST00000638589,;HNRNPU,upstream_gene_variant,,ENST00000639667,;HNRNPU,upstream_gene_variant,,ENST00000639880,;HNRNPU,upstream_gene_variant,,ENST00000640056,;HNRNPU,upstream_gene_variant,,ENST00000640440,;,regulatory_region_variant,,ENSR00000022956,; C ENSG00000153187 ENST00000640218 Transcript missense_variant 479/6858 249/2478 83/825 D/E gaT/gaG COSM6681420,COSM6681419 1 -1 HNRNPU HGNC HGNC:5048 protein_coding YES CCDS41479.1 ENSP00000491215 Q00839 UPI000040E1C8 NM_031844.2 tolerated(0.71) benign(0) 1/14 Gene3D:1.10.720.30,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF11,mobidb-lite,Low_complexity_(Seg):seg 1,1 MODERATE 1 SNV 1 1,1 1 PASS CAT . . 244864059 C2orf16 . GRCh38 chr2 27581736 27581736 + Missense_Mutation SNP G G T rs754248312 7316-938 BS_MTDQBCQK G G c.5164G>T p.Ala1722Ser p.A1722S ENST00000408964 1/1 52 38 7 38 34 0 C2orf16,missense_variant,p.Ala5126Ser,ENST00000447166,;C2orf16,missense_variant,p.Ala1722Ser,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; T ENSG00000221843 ENST00000408964 Transcript missense_variant 5215/6200 5164/5955 1722/1984 A/S Gct/Tct rs754248312 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(1) benign(0.006) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS CGC . . 4.593e-06 3.898e-05 27581736 C2orf16 . GRCh38 chr2 27581800 27581800 + Missense_Mutation SNP A A T novel 7316-938 BS_MTDQBCQK A A c.5228A>T p.His1743Leu p.H1743L ENST00000408964 1/1 75 54 9 38 35 0 C2orf16,missense_variant,p.His5147Leu,ENST00000447166,;C2orf16,missense_variant,p.His1743Leu,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000379717,;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1,NM_001271289.1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271288.1,NM_001271287.1;ZNF512,upstream_gene_variant,,ENST00000494548,;AC074091.1,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000461705,; T ENSG00000221843 ENST00000408964 Transcript missense_variant 5279/6200 5228/5955 1743/1984 H/L cAc/cTc 1 1 C2orf16 HGNC HGNC:25275 protein_coding YES CCDS42666.1 ENSP00000386190 Q68DN1 UPI0000D61179 NM_032266.3 tolerated(0.44) benign(0.229) 1/1 hmmpanther:PTHR33888,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS CAC . . 27581800 CYP1B1 . GRCh38 chr2 38075108 38075108 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.281T>G p.Ile94Arg p.I94R ENST00000610745 2/3 88 72 10 43 42 1 CYP1B1,missense_variant,p.Ile94Arg,ENST00000610745,NM_000104.3;CYP1B1,missense_variant,p.Ile94Arg,ENST00000614273,;CYP1B1,missense_variant,p.Ile94Arg,ENST00000490576,;CYP1B1,intron_variant,,ENST00000494864,;CYP1B1-AS1,non_coding_transcript_exon_variant,,ENST00000628135,;CYP1B1-AS1,intron_variant,,ENST00000628232,;CYP1B1-AS1,intron_variant,,ENST00000629719,;CYP1B1-AS1,upstream_gene_variant,,ENST00000589303,;CYP1B1-AS1,upstream_gene_variant,,ENST00000620177,;CYP1B1-AS1,upstream_gene_variant,,ENST00000626582,;CYP1B1-AS1,upstream_gene_variant,,ENST00000627992,;CYP1B1-AS1,upstream_gene_variant,,ENST00000628580,;CYP1B1-AS1,upstream_gene_variant,,ENST00000629439,;CYP1B1-AS1,upstream_gene_variant,,ENST00000629547,;CYP1B1-AS1,upstream_gene_variant,,ENST00000629773,;CYP1B1-AS1,upstream_gene_variant,,ENST00000630542,;CYP1B1,intron_variant,,ENST00000613082,;CYP1B1,upstream_gene_variant,,ENST00000491456,;CYP1B1,upstream_gene_variant,,ENST00000492443,; C ENSG00000138061 ENST00000610745 Transcript missense_variant 684/5250 281/1632 94/543 I/R aTa/aGa 1 -1 CYP1B1 HGNC HGNC:2597 protein_coding YES CCDS1793.1 ENSP00000478561 Q16678 UPI0000169C18 NM_000104.3 deleterious(0) possibly_damaging(0.889) 2/3 Gene3D:1.10.630.10,PDB-ENSP_mappings:3pm0.A,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF2,Superfamily_domains:SSF48264 MODERATE 1 SNV 1 1 PASS TAT . . 38075108 PREPL . GRCh38 chr2 44339366 44339367 + Splice_Region DEL AG AG - rs761713680 7316-938 BS_MTDQBCQK AG AG c.753-4_753-3del ENST00000409936 75 63 5 50 44 0 PREPL,splice_region_variant,,ENST00000260648,NM_006036.4;PREPL,splice_region_variant,,ENST00000378511,NM_001042385.2;PREPL,splice_region_variant,,ENST00000378520,NM_001042386.2;PREPL,splice_region_variant,,ENST00000409272,NM_001171603.1;PREPL,splice_region_variant,,ENST00000409411,NM_001171613.1;PREPL,splice_region_variant,,ENST00000409936,NM_001171606.1;PREPL,splice_region_variant,,ENST00000409957,;PREPL,splice_region_variant,,ENST00000410081,;PREPL,splice_region_variant,,ENST00000541738,NM_001171617.1;PREPL,downstream_gene_variant,,ENST00000438314,;PREPL,downstream_gene_variant,,ENST00000540817,;PREPL,splice_region_variant,,ENST00000425263,;PREPL,splice_region_variant,,ENST00000426481,; - ENSG00000138078 ENST00000409936 Transcript splice_region_variant,intron_variant rs761713680,COSM6243162 1 -1 PREPL HGNC HGNC:30228 protein_coding YES CCDS33190.1 ENSP00000386543 Q4J6C6 UPI0000208358 NM_001171606.1 6/14 0,1 LOW 1 deletion 1 0,1 1 PASS CTAGA . . 0.03932 0.02194 0.04547 0.05016 0.02322 0.02355 0.04106 0.03585 0.0604 44339365 SIX3 . GRCh38 chr2 44942211 44942211 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.107A>C p.Asn36Thr p.N36T ENST00000260653 1/2 74 63 11 38 37 0 SIX3,missense_variant,p.Asn36Thr,ENST00000260653,NM_005413.3;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;LINC01833,upstream_gene_variant,,ENST00000437916,;LINC01833,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;RF02250,downstream_gene_variant,,ENST00000611000,;RF02251,downstream_gene_variant,,ENST00000620790,;RF02252,downstream_gene_variant,,ENST00000621512,;,regulatory_region_variant,,ENSR00000116339,; C ENSG00000138083 ENST00000260653 Transcript missense_variant 314/2523 107/999 36/332 N/T aAc/aCc 1 1 SIX3 HGNC HGNC:10889 protein_coding YES CCDS1821.1 ENSP00000260653 O95343 UPI00001359C4 NM_005413.3 tolerated_low_confidence(0.51) benign(0) 1/2 hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 44942211 ALMS1 . GRCh38 chr2 73450795 73450795 + Missense_Mutation SNP C C T rs769983998 7316-938 BS_MTDQBCQK C C c.4268C>T p.Thr1423Ile p.T1423I ENST00000613296 8/23 72 62 8 53 52 0 ALMS1,missense_variant,p.Thr1423Ile,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Thr1381Ile,ENST00000484298,;ALMS1,missense_variant,p.Thr1423Ile,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000620466,; T ENSG00000116127 ENST00000613296 Transcript missense_variant 4379/12925 4268/12507 1423/4168 T/I aCt/aTt rs769983998 1 1 ALMS1 HGNC HGNC:428 protein_coding YES CCDS42697.1 ENSP00000482968 Q8TCU4 UPI00046209B2 NM_015120.4 tolerated(0.08) benign(0.011) 8/23 hmmpanther:PTHR21553,hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22,hmmpanther:PTHR21553:SF22 MODERATE 1 SNV 1 1 PASS ACT . . 8.144e-06 2.985e-05 3.251e-05 73450795 DPP10 . GRCh38 chr2 115309314 115309314 + Frame_Shift_Del DEL T T - novel 7316-938 BS_MTDQBCQK T T c.148del p.Cys50AlafsTer11 p.C50Afs*11 ENST00000393147 2/26 82 50 28 38 37 0 DPP10,frameshift_variant,p.Cys46AlafsTer11,ENST00000410059,NM_020868.4,NM_001321907.1;DPP10,frameshift_variant,p.Cys39AlafsTer11,ENST00000310323,NM_001321909.1,NM_001004360.3,NM_001321906.1;DPP10,frameshift_variant,p.Cys50AlafsTer11,ENST00000393147,NM_001178034.1;DPP10,frameshift_variant,p.Cys42AlafsTer11,ENST00000393146,;DPP10,5_prime_UTR_variant,,ENST00000409163,NM_001321914.1,NM_001178037.1,NM_001321911.1,NM_001321905.1,NM_001178036.1,NM_001321912.1,NM_001321908.1,NM_001321910.1,NM_001321913.1;DPP10,5_prime_UTR_variant,,ENST00000436732,;DPP10,5_prime_UTR_variant,,ENST00000419287,;DPP10,non_coding_transcript_exon_variant,,ENST00000461250,;DPP10,non_coding_transcript_exon_variant,,ENST00000486885,;DPP10,intron_variant,,ENST00000429914,; - ENSG00000175497 ENST00000393147 Transcript frameshift_variant 503/2758 148/2403 50/800 C/X Tgc/gc 1 1 DPP10 HGNC HGNC:20823 protein_coding YES CCDS54388.1 ENSP00000376855 Q8N608 UPI00015E0A22 NM_001178034.1 2/26 Transmembrane_helices:TMhelix,hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731 HIGH 1 deletion 1 PASS TATG . . 115309313 OBSL1 . GRCh38 chr2 219551753 219551753 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.5459T>G p.Val1820Gly p.V1820G ENST00000404537 20/21 82 64 17 46 46 0 OBSL1,missense_variant,p.Val1820Gly,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Val1728Gly,ENST00000373876,;TMEM198,downstream_gene_variant,,ENST00000344458,NM_001303098.1;TMEM198,downstream_gene_variant,,ENST00000373883,NM_001005209.2;TMEM198,downstream_gene_variant,,ENST00000421791,;TMEM198,downstream_gene_variant,,ENST00000451952,;OBSL1,downstream_gene_variant,,ENST00000456147,;OBSL1,downstream_gene_variant,,ENST00000603926,NM_001173431.1;OBSL1,downstream_gene_variant,,ENST00000604031,;MIR3132,upstream_gene_variant,,ENST00000581997,;AC009955.3,upstream_gene_variant,,ENST00000596829,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,non_coding_transcript_exon_variant,,ENST00000489804,;OBSL1,non_coding_transcript_exon_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000472388,;OBSL1,downstream_gene_variant,,ENST00000596474,; C ENSG00000124006 ENST00000404537 Transcript missense_variant 5516/5841 5459/5691 1820/1896 V/G gTt/gGt 1 -1 OBSL1 HGNC HGNC:29092 protein_coding YES CCDS46520.1 ENSP00000385636 O75147 UPI0000E07EA0 NM_015311.2 tolerated(0.25) probably_damaging(0.928) 20/21 PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF30,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726 MODERATE 1 SNV 1 1 PASS AAC . . 219551753 P4HTM . GRCh38 chr3 48990258 48990258 + Translation_Start_Site SNP T T G novel 7316-938 BS_MTDQBCQK T T c.2T>G p.Met1? p.M1? ENST00000343546 1/9 87 70 10 34 34 0 P4HTM,start_lost,p.Met1?,ENST00000343546,NM_177938.2;P4HTM,start_lost,p.Met1?,ENST00000383729,NM_177939.2;ARIH2,downstream_gene_variant,,ENST00000356401,NM_006321.3,NM_001317334.1;P4HTM,upstream_gene_variant,,ENST00000444213,;P4HTM,upstream_gene_variant,,ENST00000475629,;AC137630.4,upstream_gene_variant,,ENST00000609473,;AC137630.1,upstream_gene_variant,,ENST00000452042,;P4HTM,upstream_gene_variant,,ENST00000468374,;P4HTM,upstream_gene_variant,,ENST00000609406,;P4HTM,non_coding_transcript_exon_variant,,ENST00000484115,;P4HTM,non_coding_transcript_exon_variant,,ENST00000472301,;,regulatory_region_variant,,ENSR00000152172,; G ENSG00000178467 ENST00000343546 Transcript start_lost 370/2268 2/1692 1/563 M/R aTg/aGg 1 1 P4HTM HGNC HGNC:28858 protein_coding YES CCDS2781.2 ENSP00000341422 Q9NXG6 UPI0000209C68 NM_177938.2 deleterious_low_confidence(0) benign(0) 1/9 mobidb-lite HIGH 1 SNV 1 PASS ATG . . 48990258 ZNF717 . GRCh38 chr3 75737961 75737961 + Missense_Mutation SNP G G C rs1272586854 7316-938 BS_MTDQBCQK G G c.1512C>G p.His504Gln p.H504Q ENST00000478296 4/4 111 94 9 72 72 0 ZNF717,missense_variant,p.His504Gln,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001324027.1;ZNF717,downstream_gene_variant,,ENST00000468296,NM_001290208.1,NM_001128223.2;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,; C ENSG00000227124 ENST00000478296 Transcript missense_variant 1789/3875 1512/2595 504/864 H/Q caC/caG rs1272586854 1 -1 ZNF717 HGNC HGNC:29448 protein_coding YES CCDS77773.1 ENSP00000419377 C9JVC3 UPI0001B794C0 NM_001290209.1 tolerated(1) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377:SF627,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS TGT . . 75737961 ADCY5 . GRCh38 chr3 123448531 123448531 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.15A>C p.Lys5Asn p.K5N ENST00000462833 1/21 70 58 8 24 22 1 ADCY5,missense_variant,p.Lys5Asn,ENST00000462833,NM_183357.2; G ENSG00000173175 ENST00000462833 Transcript missense_variant 1228/7311 15/3786 5/1261 K/N aaA/aaC 1 -1 ADCY5 HGNC HGNC:236 protein_coding YES CCDS3022.1 ENSP00000419361 O95622 UPI000015E262 NM_183357.2 tolerated_low_confidence(0.73) benign(0) 1/21 Pfam_domain:PF16214,mobidb-lite MODERATE 1 SNV 1 1 PASS TTT . . 123448531 AC092994.1 . GRCh38 chr3 154539263 154539264 + Splice_Region INS - - A rs1330376784 7316-938 BS_MTDQBCQK - - n.44+2dup ENST00000498604 72 46 19 45 43 0 AC092994.1,splice_region_variant,,ENST00000498604,; A ENSG00000243861 ENST00000498604 Transcript splice_region_variant,intron_variant,non_coding_transcript_variant rs1330376784 1 -1 AC092994.1 Clone_based_ensembl_gene lincRNA YES 1/1 LOW 1 insertion 3 PASS TTA . . 154539263 VWA5B2 . GRCh38 chr3 184230644 184230644 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.116A>C p.Asn39Thr p.N39T ENST00000426955 1/19 80 66 11 27 27 0 VWA5B2,missense_variant,p.Asn39Thr,ENST00000426955,NM_138345.2;VWA5B2,upstream_gene_variant,,ENST00000273794,NM_001320373.1;VWA5B2,upstream_gene_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000474580,;VWA5B2,upstream_gene_variant,,ENST00000497229,;,regulatory_region_variant,,ENSR00000162897,; C ENSG00000145198 ENST00000426955 Transcript missense_variant 216/4120 116/3729 39/1242 N/T aAc/aCc 1 1 VWA5B2 HGNC HGNC:25144 protein_coding YES CCDS54686.1 ENSP00000398688 Q8N398 UPI0000412DE9 NM_138345.2 deleterious(0) probably_damaging(0.998) 1/19 Pfam_domain:PF13757,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107 MODERATE 1 SNV 1 PASS AAC . . 184230644 MUC4 . GRCh38 chr3 195780908 195780908 + Missense_Mutation SNP C C A 7316-938 BS_MTDQBCQK C C c.10672G>T p.Ala3558Ser p.A3558S ENST00000463781 2/25 58 45 8 27 27 0 MUC4,missense_variant,p.Ala3558Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3558Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3558Ser,ENST00000478156,;MUC4,missense_variant,p.Ala3558Ser,ENST00000466475,;MUC4,missense_variant,p.Ala3558Ser,ENST00000477756,;MUC4,missense_variant,p.Ala3558Ser,ENST00000477086,;MUC4,missense_variant,p.Ala3558Ser,ENST00000480843,;MUC4,missense_variant,p.Ala3558Ser,ENST00000462323,;MUC4,missense_variant,p.Ala3558Ser,ENST00000470451,;MUC4,missense_variant,p.Ala3558Ser,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,;,regulatory_region_variant,,ENSR00000308217,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 11132/17110 10672/16239 3558/5412 A/S Gct/Tct COSM2944553 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.11) benign(0.374) 2/25 mobidb-lite,hmmpanther:PTHR42668 1 MODERATE 1 SNV 5 1 1 PASS GCG . . 195780908 MUC4 . GRCh38 chr3 195783230 195783230 + Missense_Mutation SNP G G A rs866078686 7316-938 BS_MTDQBCQK G G c.8350C>T p.Pro2784Ser p.P2784S ENST00000463781 2/25 40 28 5 23 21 0 MUC4,missense_variant,p.Pro2784Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2784Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2784Ser,ENST00000478156,;MUC4,missense_variant,p.Pro2784Ser,ENST00000466475,;MUC4,missense_variant,p.Pro2784Ser,ENST00000477756,;MUC4,missense_variant,p.Pro2784Ser,ENST00000477086,;MUC4,missense_variant,p.Pro2784Ser,ENST00000480843,;MUC4,missense_variant,p.Pro2784Ser,ENST00000462323,;MUC4,missense_variant,p.Pro2784Ser,ENST00000470451,;MUC4,missense_variant,p.Pro2784Ser,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 8810/17110 8350/16239 2784/5412 P/S Cct/Tct rs866078686 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.12) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 MODERATE 1 SNV 5 1 PASS GGG . . 0.0001001 0.0001283 6.038e-05 3.485e-05 0.0002587 0.0003588 195783230 HNRNPDL . GRCh38 chr4 82429486 82429486 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.205T>G p.Leu69Val p.L69V ENST00000621267 1/8 68 57 7 37 37 0 HNRNPDL,missense_variant,p.Leu69Val,ENST00000621267,NM_031372.3;HNRNPDL,missense_variant,p.Leu69Val,ENST00000614627,NM_001207000.1;HNRNPDL,missense_variant,p.Leu69Val,ENST00000295470,;HNRNPDL,intron_variant,,ENST00000630827,;ENOPH1,upstream_gene_variant,,ENST00000273920,NM_021204.4;ENOPH1,upstream_gene_variant,,ENST00000505846,;HNRNPDL,upstream_gene_variant,,ENST00000507721,;ENOPH1,upstream_gene_variant,,ENST00000509635,NM_001292017.1;HNRNPDL,upstream_gene_variant,,ENST00000602300,;HNRNPDL,missense_variant,p.Leu69Val,ENST00000502762,;HNRNPDL,intron_variant,,ENST00000630114,;HNRNPDL,upstream_gene_variant,,ENST00000349655,;HNRNPDL,upstream_gene_variant,,ENST00000514511,;,regulatory_region_variant,,ENSR00000169995,; C ENSG00000152795 ENST00000621267 Transcript missense_variant 740/4139 205/1263 69/420 L/V Ttg/Gtg 1 -1 HNRNPDL HGNC HGNC:5037 protein_coding YES CCDS3593.1 ENSP00000483254 O14979 A0A024RDF6 UPI0000073377 NM_031372.3 deleterious_low_confidence(0) benign(0.014) 1/8 Gene3D:3.30.70.330,mobidb-lite MODERATE 1 SNV 1 1 PASS AAT . . 82429486 PKD2 . GRCh38 chr4 88008061 88008061 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.328A>C p.Met110Leu p.M110L ENST00000237596 1/15 84 71 8 38 38 0 PKD2,missense_variant,p.Met110Leu,ENST00000237596,NM_000297.3;PKD2,upstream_gene_variant,,ENST00000506727,;,regulatory_region_variant,,ENSR00000170535,; C ENSG00000118762 ENST00000237596 Transcript missense_variant 394/5056 328/2907 110/968 M/L Atg/Ctg 1 1 PKD2 HGNC HGNC:9009 protein_coding YES CCDS3627.1 ENSP00000237596 Q13563 UPI000013CA1D NM_000297.3 tolerated_low_confidence(0.51) benign(0.007) 1/15 hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF114,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAT . . 88008061 CENPE . GRCh38 chr4 103132692 103132692 + Splice_Site DEL C C - novel 7316-938 BS_MTDQBCQK C C c.6924+1del p.X2308_splice ENST00000265148 74 67 5 40 39 0 CENPE,splice_donor_variant,,ENST00000611174,;CENPE,splice_donor_variant,,ENST00000265148,NM_001813.2;CENPE,splice_donor_variant,,ENST00000380026,NM_001286734.1; - ENSG00000138778 ENST00000265148 Transcript splice_donor_variant 1 -1 CENPE HGNC HGNC:1856 protein_coding YES CCDS34042.1 ENSP00000265148 Q02224 UPI000020B28A NM_001813.2 42/48 HIGH 1 deletion 2 1 PASS TACA . . 103132691 SEC24B . GRCh38 chr4 109433924 109433924 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.55A>C p.Lys19Gln p.K19Q ENST00000504968 1/25 55 44 7 46 45 1 SEC24B,missense_variant,p.Lys19Gln,ENST00000265175,NM_006323.4,NM_001318085.1;SEC24B,missense_variant,p.Lys19Gln,ENST00000504968,NM_001300813.2;SEC24B,missense_variant,p.Lys19Gln,ENST00000399100,NM_001318086.1,NM_001042734.3;SEC24B-AS1,upstream_gene_variant,,ENST00000499359,;SEC24B-AS1,upstream_gene_variant,,ENST00000505895,;SEC24B-AS1,upstream_gene_variant,,ENST00000510971,;,regulatory_region_variant,,ENSR00000171830,; C ENSG00000138802 ENST00000504968 Transcript missense_variant 153/4066 55/3897 19/1298 K/Q Aag/Cag 1 1 SEC24B HGNC HGNC:10704 protein_coding YES CCDS75179.1 ENSP00000428564 O95487 UPI000189A7A7 NM_001300813.2 deleterious_low_confidence(0.01) benign(0.005) 1/25 mobidb-lite MODERATE 1 SNV 1 PASS CAA . . 109433924 RAB33B . GRCh38 chr4 139454392 139454392 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.197T>G p.Ile66Arg p.I66R ENST00000305626 1/2 77 68 9 37 37 0 RAB33B,missense_variant,p.Ile66Arg,ENST00000305626,NM_031296.2;AC097376.2,upstream_gene_variant,,ENST00000608661,;AC097376.2,upstream_gene_variant,,ENST00000608663,;AC097376.2,upstream_gene_variant,,ENST00000609359,;AC097376.2,upstream_gene_variant,,ENST00000610159,;RAB33B,downstream_gene_variant,,ENST00000507271,;,regulatory_region_variant,,ENSR00000173697,; G ENSG00000172007 ENST00000305626 Transcript missense_variant 586/4562 197/690 66/229 I/R aTa/aGa 1 1 RAB33B HGNC HGNC:16075 protein_coding YES CCDS3747.1 ENSP00000306496 Q9H082 UPI000000123D NM_031296.2 deleterious(0) probably_damaging(1) 1/2 Gene3D:3.30.70.1390,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF378,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231,cd04115 MODERATE 1 SNV 1 1 PASS ATA . . 139454392 SLC9A3 . GRCh38 chr5 524258 524258 + Missense_Mutation SNP A A C rs1294352511 7316-938 BS_MTDQBCQK A A c.65T>G p.Leu22Arg p.L22R ENST00000264938 1/17 119 105 9 42 41 1 SLC9A3,missense_variant,p.Leu22Arg,ENST00000644203,;SLC9A3,missense_variant,p.Leu22Arg,ENST00000264938,NM_004174.3;SLC9A3,missense_variant,p.Leu22Arg,ENST00000514375,NM_001284351.2;AC106772.2,upstream_gene_variant,,ENST00000515085,;,regulatory_region_variant,,ENSR00000177436,; C ENSG00000066230 ENST00000264938 Transcript missense_variant 75/2584 65/2505 22/834 L/R cTg/cGg rs1294352511 1 -1 SLC9A3 HGNC HGNC:11073 protein_coding YES CCDS3855.1 ENSP00000264938 P48764 UPI000013D597 NM_004174.3 tolerated(0.05) benign(0.282) 1/17 hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,Cleavage_site_(Signalp):SignalP-TM,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS CAG . . 1.743e-05 7.91e-05 524258 ADAMTS16 . GRCh38 chr5 5303279 5303279 + Missense_Mutation SNP G G C novel 7316-938 BS_MTDQBCQK G G c.2801G>C p.Gly934Ala p.G934A ENST00000274181 19/23 116 110 5 53 53 0 ADAMTS16,missense_variant,p.Gly934Ala,ENST00000274181,NM_139056.2;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,; C ENSG00000145536 ENST00000274181 Transcript missense_variant 2939/4979 2801/3675 934/1224 G/A gGg/gCg 1 1 ADAMTS16 HGNC HGNC:17108 protein_coding YES CCDS43299.1 ENSP00000274181 Q8TE57 UPI00004572CA NM_139056.2 tolerated(0.05) possibly_damaging(0.498) 19/23 PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895 MODERATE 1 SNV 2 PASS GGG . . 5303279 FOXD1 . GRCh38 chr5 73447675 73447675 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.688A>C p.Asn230His p.N230H ENST00000615637 1/1 43 34 7 33 32 0 FOXD1,missense_variant,p.Asn230His,ENST00000615637,NM_004472.2;LINC01385,upstream_gene_variant,,ENST00000512310,;FOXD1-AS1,downstream_gene_variant,,ENST00000514661,;FOXD1,upstream_gene_variant,,ENST00000513595,;,regulatory_region_variant,,ENSR00000182415,; G ENSG00000251493 ENST00000615637 Transcript missense_variant 853/2272 688/1398 230/465 N/H Aac/Cac 1 -1 FOXD1 HGNC HGNC:3802 protein_coding YES CCDS75259.1 ENSP00000481581 Q16676 UPI000012ADC8 NM_004472.2 tolerated(0.16) benign(0) 1/1 hmmpanther:PTHR11829:SF329,hmmpanther:PTHR11829 MODERATE SNV PASS TTG . . 73447675 PCDH1 . GRCh38 chr5 141878220 141878220 + Splice_Region SNP T T G novel 7316-938 BS_MTDQBCQK T T c.40+3A>C ENST00000287008 119 106 10 49 49 0 PCDH1,splice_region_variant,,ENST00000287008,NM_032420.3;PCDH1,splice_region_variant,,ENST00000394536,NM_002587.4;PCDH1,splice_region_variant,,ENST00000503492,;PCDH1,intron_variant,,ENST00000514773,;,regulatory_region_variant,,ENSR00000187928,; G ENSG00000156453 ENST00000287008 Transcript splice_region_variant,intron_variant 1 -1 PCDH1 HGNC HGNC:8655 protein_coding YES CCDS4267.1 ENSP00000287008 Q08174 UPI000016158F NM_032420.3 1/4 LOW 1 SNV 5 PASS TTA . . 141878220 TCOF1 . GRCh38 chr5 150374647 150374647 + Missense_Mutation SNP G G A rs759026634 7316-938 BS_MTDQBCQK G G c.1114G>A p.Gly372Arg p.G372R ENST00000377797 9/27 133 118 6 36 36 0 TCOF1,missense_variant,p.Gly372Arg,ENST00000377797,NM_001135243.1;TCOF1,missense_variant,p.Gly372Arg,ENST00000642994,;TCOF1,missense_variant,p.Gly372Arg,ENST00000643257,;TCOF1,missense_variant,p.Gly295Arg,ENST00000323668,NM_000356.3;TCOF1,missense_variant,p.Gly295Arg,ENST00000445265,NM_001135245.1;TCOF1,missense_variant,p.Gly372Arg,ENST00000427724,NM_001195141.1;TCOF1,missense_variant,p.Gly372Arg,ENST00000513346,;TCOF1,missense_variant,p.Gly372Arg,ENST00000439160,NM_001135244.1;TCOF1,missense_variant,p.Gly372Arg,ENST00000504761,;TCOF1,missense_variant,p.Gly372Arg,ENST00000513538,;TCOF1,missense_variant,p.Gly372Arg,ENST00000394269,NM_001008657.2;TCOF1,missense_variant,p.Gly224Arg,ENST00000646961,;TCOF1,intron_variant,,ENST00000515516,;TCOF1,upstream_gene_variant,,ENST00000506063,;TCOF1,non_coding_transcript_exon_variant,,ENST00000515035,;TCOF1,upstream_gene_variant,,ENST00000506767,;TCOF1,upstream_gene_variant,,ENST00000514442,;TCOF1,downstream_gene_variant,,ENST00000643812,; A ENSG00000070814 ENST00000377797 Transcript missense_variant 1222/5095 1114/4467 372/1488 G/R Gga/Aga rs759026634 1 1 TCOF1 HGNC HGNC:11654 protein_coding YES CCDS54936.1 ENSP00000367028 Q13428 UPI0000EE3736 NM_001135243.1 tolerated(1) benign(0) 9/27 Pfam_domain:PF03546,hmmpanther:PTHR20787,mobidb-lite MODERATE 1 SNV 5 1 PASS CGG . . 8.183e-06 1.819e-05 150374647 TLX3 . GRCh38 chr5 171309531 171309531 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.166T>G p.Tyr56Asp p.Y56D ENST00000296921 1/3 127 112 13 23 22 0 TLX3,missense_variant,p.Tyr56Asp,ENST00000296921,NM_021025.3;AC091980.2,upstream_gene_variant,,ENST00000619056,;,regulatory_region_variant,,ENSR00000190624,; G ENSG00000164438 ENST00000296921 Transcript missense_variant 248/1493 166/876 56/291 Y/D Tac/Gac 1 1 TLX3 HGNC HGNC:13532 protein_coding YES CCDS34288.1 ENSP00000296921 O43711 UPI000013E3AA NM_021025.3 deleterious(0.02) probably_damaging(0.921) 1/3 mobidb-lite,hmmpanther:PTHR24326:SF154,hmmpanther:PTHR24326 MODERATE 1 SNV 1 1 PASS ATA . . 171309531 COL23A1 . GRCh38 chr5 178590154 178590154 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.44A>C p.Lys15Thr p.K15T ENST00000390654 1/29 140 116 21 54 54 0 COL23A1,missense_variant,p.Lys15Thr,ENST00000390654,NM_173465.3;,regulatory_region_variant,,ENSR00000191480,; G ENSG00000050767 ENST00000390654 Transcript missense_variant 402/3061 44/1623 15/540 K/T aAg/aCg 1 -1 COL23A1 HGNC HGNC:22990 protein_coding YES CCDS4436.1 ENSP00000375069 Q86Y22 UPI0000062274 NM_173465.3 deleterious_low_confidence(0.02) benign(0.007) 1/29 hmmpanther:PTHR45108,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS CTT . . 178590154 ADAMTS2 . GRCh38 chr5 179125089 179125089 + Missense_Mutation SNP C C T rs758419331 7316-938 BS_MTDQBCQK C C c.2842G>A p.Asp948Asn p.D948N ENST00000251582 19/22 123 107 11 35 33 0 ADAMTS2,missense_variant,p.Asp948Asn,ENST00000251582,NM_014244.4;ADAMTS2,upstream_gene_variant,,ENST00000518335,;ADAMTS2,upstream_gene_variant,,ENST00000522937,;ADAMTS2,upstream_gene_variant,,ENST00000523450,; T ENSG00000087116 ENST00000251582 Transcript missense_variant 2944/6754 2842/3636 948/1211 D/N Gac/Aac rs758419331,COSM1436475 1 -1 ADAMTS2 HGNC HGNC:218 protein_coding YES CCDS4444.1 ENSP00000251582 O95450 UPI00001AE729 NM_014244.4 tolerated(0.78) benign(0.04) 19/22 Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,SMART_domains:SM00209,Superfamily_domains:SSF82895 0,1 MODERATE 1 SNV 1 0,1 1 PASS TCG . . 179125089 FOXC1 . GRCh38 chr6 1611312 1611312 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.867T>G p.Asp289Glu p.D289E ENST00000380874 1/1 90 73 12 39 36 0 FOXC1,missense_variant,p.Asp289Glu,ENST00000380874,;FOXC1,missense_variant,p.Asp289Glu,ENST00000645831,NM_001453.2;,regulatory_region_variant,,ENSR00000191970,; G ENSG00000054598 ENST00000380874 Transcript missense_variant 1341/3926 867/1662 289/553 D/E gaT/gaG 1 1 FOXC1 HGNC HGNC:3800 protein_coding YES CCDS4473.1 ENSP00000370256 Q12948 W6CJ52 UPI000012ADC5 tolerated(1) benign(0) 1/1 hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF166,mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 1611312 MUCL3 . GRCh38 chr6 30950278 30950278 + Missense_Mutation SNP A A G rs1305952989 7316-938 BS_MTDQBCQK A A c.1814A>G p.Glu605Gly p.E605G ENST00000462446 2/3 79 53 12 35 31 0 MUCL3,missense_variant,p.Glu672Gly,ENST00000636043,;MUCL3,missense_variant,p.Glu605Gly,ENST00000462446,NM_080870.3;MUCL3,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;,regulatory_region_variant,,ENSR00000320202,; G ENSG00000168631 ENST00000462446 Transcript missense_variant 1842/5314 1814/4182 605/1393 E/G gAa/gGa rs1305952989 1 1 MUCL3 HGNC HGNC:21666 protein_coding YES CCDS4692.2 ENSP00000417182 E9PEI6 UPI0000596C17 NM_080870.3 tolerated(0.5) benign(0.005) 2/3 mobidb-lite,hmmpanther:PTHR22094 MODERATE SNV 5 1 PASS GAA . . 30950278 PRRT1 . GRCh38 chr6 32150669 32150669 + Missense_Mutation SNP T T G rs1045844529 7316-938 BS_MTDQBCQK T T c.257A>C p.His86Pro p.H86P ENST00000211413 2/4 112 88 15 40 40 0 PRRT1,missense_variant,p.His86Pro,ENST00000211413,NM_030651.3;PRRT1,intron_variant,,ENST00000375150,;AL662884.4,intron_variant,,ENST00000428778,;PPT2,upstream_gene_variant,,ENST00000324816,NM_005155.6,NM_001204103.1;PPT2,upstream_gene_variant,,ENST00000361568,NM_138717.2;PPT2,upstream_gene_variant,,ENST00000375137,;PPT2,upstream_gene_variant,,ENST00000375143,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;AL662884.3,downstream_gene_variant,,ENST00000475826,;AL662884.3,downstream_gene_variant,,ENST00000485392,;AL662884.3,downstream_gene_variant,,ENST00000494332,;AL662884.3,downstream_gene_variant,,ENST00000497552,;AL662884.3,downstream_gene_variant,,ENST00000498575,;PRRT1,intron_variant,,ENST00000472641,;PPT2-EGFL8,upstream_gene_variant,,ENST00000453656,;PPT2,upstream_gene_variant,,ENST00000465047,;PRRT1,upstream_gene_variant,,ENST00000467780,;PPT2,upstream_gene_variant,,ENST00000478521,;AL662884.4,downstream_gene_variant,,ENST00000486917,;PPT2,upstream_gene_variant,,ENST00000493548,;PRRT1,non_coding_transcript_exon_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2,upstream_gene_variant,,ENST00000436118,;PPT2-EGFL8,upstream_gene_variant,,ENST00000583227,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,; G ENSG00000204314 ENST00000211413 Transcript missense_variant 382/1909 257/921 86/306 H/P cAc/cCc rs1045844529 1 -1 PRRT1 HGNC HGNC:13943 protein_coding YES CCDS4739.1 ENSP00000211413 Q99946 A0A1U9X8D6 UPI000012FFED NM_030651.3 tolerated_low_confidence(0.16) benign(0.007) 2/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR14948:SF21,hmmpanther:PTHR14948 MODERATE 1 SNV 1 PASS GTG . . 32150669 BYSL . GRCh38 chr6 41921814 41921814 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.252A>C p.Glu84Asp p.E84D ENST00000230340 1/7 94 79 14 40 40 0 BYSL,missense_variant,p.Glu84Asp,ENST00000230340,NM_004053.3;MED20,upstream_gene_variant,,ENST00000265350,NM_001305455.1,NM_004275.4;MED20,upstream_gene_variant,,ENST00000394251,;MED20,upstream_gene_variant,,ENST00000409060,;MED20,upstream_gene_variant,,ENST00000409312,NM_001305457.1;MED20,upstream_gene_variant,,ENST00000434077,;RF00019,upstream_gene_variant,,ENST00000384641,;MED20,upstream_gene_variant,,ENST00000467535,NM_001305456.1;MED20,upstream_gene_variant,,ENST00000482361,;BYSL,missense_variant,p.Glu84Asp,ENST00000489290,;BYSL,non_coding_transcript_exon_variant,,ENST00000475702,;BYSL,non_coding_transcript_exon_variant,,ENST00000494032,;,regulatory_region_variant,,ENSR00000196897,; C ENSG00000112578 ENST00000230340 Transcript missense_variant 627/2029 252/1314 84/437 E/D gaA/gaC 1 1 BYSL HGNC HGNC:1157 protein_coding YES CCDS34450.1 ENSP00000230340 Q13895 UPI0000034CC4 NM_004053.3 tolerated(0.65) benign(0) 1/7 mobidb-lite,hmmpanther:PTHR12821 MODERATE 1 SNV 1 PASS AAC . . 41921814 ENPP1 . GRCh38 chr6 131808115 131808115 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.80A>C p.Asn27Thr p.N27T ENST00000360971 1/25 67 51 14 33 29 2 ENPP1,missense_variant,p.Asn27Thr,ENST00000360971,NM_006208.2;ENPP1,missense_variant,p.Asn27Thr,ENST00000513998,;ENPP1,non_coding_transcript_exon_variant,,ENST00000486853,;,regulatory_region_variant,,ENSR00000202872,; C ENSG00000197594 ENST00000360971 Transcript missense_variant 100/7442 80/2778 27/925 N/T aAc/aCc 1 1 ENPP1 HGNC HGNC:3356 protein_coding YES CCDS5150.2 ENSP00000354238 P22413 UPI00001303F0 NM_006208.2 deleterious_low_confidence(0.05) benign(0) 1/25 mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 1 1 PASS AAC . . 131808115 EPM2A . GRCh38 chr6 145735386 145735386 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.113T>G p.Val38Gly p.V38G ENST00000367519 1/4 92 66 7 37 37 0 EPM2A,missense_variant,p.Val38Gly,ENST00000367519,NM_005670.3;EPM2A,missense_variant,p.Val38Gly,ENST00000638262,NM_001360057.1;EPM2A,missense_variant,p.Val38Gly,ENST00000618445,;EPM2A,missense_variant,p.Val38Gly,ENST00000435470,NM_001018041.1;EPM2A,intron_variant,,ENST00000611340,;EPM2A,intron_variant,,ENST00000639423,NM_001360064.1;EPM2A,intron_variant,,ENST00000640980,;EPM2A,upstream_gene_variant,,ENST00000638717,;AL023806.2,downstream_gene_variant,,ENST00000603042,;AL023806.1,upstream_gene_variant,,ENST00000603994,;EPM2A,non_coding_transcript_exon_variant,,ENST00000640297,;EPM2A,intron_variant,,ENST00000640898,;EPM2A,missense_variant,p.Val29Gly,ENST00000639049,NM_001360071.1;EPM2A,non_coding_transcript_exon_variant,,ENST00000639649,;EPM2A,upstream_gene_variant,,ENST00000638554,;EPM2A,upstream_gene_variant,,ENST00000640351,;,regulatory_region_variant,,ENSR00000204584,; C ENSG00000112425 ENST00000367519 Transcript missense_variant 470/3465 113/996 38/331 V/G gTc/gGc 1 -1 EPM2A HGNC HGNC:3413 protein_coding YES CCDS5206.1 ENSP00000356489 O95278 UPI000006E60E NM_005670.3 deleterious(0) possibly_damaging(0.598) 1/4 Gene3D:2.60.40.10,Pfam_domain:PF00686,PROSITE_profiles:PS51166,SMART_domains:SM01065,Superfamily_domains:SSF49452,cd05806 MODERATE 1 SNV 1 1 PASS GAC . . 145735386 FBXO5 . GRCh38 chr6 152982858 152982858 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.102T>G p.Asp34Glu p.D34E ENST00000229758 1/5 115 97 12 42 42 0 FBXO5,missense_variant,p.Asp34Glu,ENST00000229758,NM_012177.3;FBXO5,intron_variant,,ENST00000367241,NM_001142522.1;MTRF1L,downstream_gene_variant,,ENST00000367230,NM_001301047.2;MTRF1L,downstream_gene_variant,,ENST00000367231,NM_001114184.2;MTRF1L,downstream_gene_variant,,ENST00000367233,NM_019041.6,NM_001301870.1;MTRF1L,downstream_gene_variant,,ENST00000414771,NM_001301871.1;AL080276.2,upstream_gene_variant,,ENST00000442269,;AL080276.2,upstream_gene_variant,,ENST00000637995,;MTRF1L,downstream_gene_variant,,ENST00000461949,;MTRF1L,downstream_gene_variant,,ENST00000464135,;MTRF1L,downstream_gene_variant,,ENST00000485512,;,regulatory_region_variant,,ENSR00000205457,; C ENSG00000112029 ENST00000229758 Transcript missense_variant,splice_region_variant 161/2037 102/1344 34/447 D/E gaT/gaG 1 -1 FBXO5 HGNC HGNC:13584 protein_coding YES CCDS5242.1 ENSP00000229758 Q9UKT4 UPI000012A585 NM_012177.3 tolerated_low_confidence(0.21) benign(0.003) 1/5 MODERATE 1 SNV 1 PASS TAT . . 152982858 UNCX . GRCh38 chr7 1236571 1236571 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.1190A>C p.Lys397Thr p.K397T ENST00000316333 3/3 47 32 10 29 29 0 UNCX,missense_variant,p.Lys397Thr,ENST00000316333,NM_001080461.1;,regulatory_region_variant,,ENSR00000207580,; C ENSG00000164853 ENST00000316333 Transcript missense_variant 1301/2048 1190/1596 397/531 K/T aAg/aCg 1 1 UNCX HGNC HGNC:33194 protein_coding YES CCDS34583.1 ENSP00000314480 A6NJT0 UPI0000D61BE6 NM_001080461.1 deleterious_low_confidence(0) possibly_damaging(0.841) 3/3 hmmpanther:PTHR24329:SF500,hmmpanther:PTHR24329 MODERATE 1 SNV 1 PASS AAG . . 1236571 HOXA13 . GRCh38 chr7 27199678 27199678 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.400T>G p.Ser134Ala p.S134A ENST00000222753 1/2 35 27 7 30 30 0 HOXA13,missense_variant,p.Ser134Ala,ENST00000222753,NM_000522.4;HOTTIP,intron_variant,,ENST00000421733,;HOTTIP,intron_variant,,ENST00000605136,;HOTTIP,upstream_gene_variant,,ENST00000472494,;HOTTIP,upstream_gene_variant,,ENST00000521028,;RF02041,upstream_gene_variant,,ENST00000616633,;RF02042,upstream_gene_variant,,ENST00000619957,;RF02040,upstream_gene_variant,,ENST00000620415,;HOXA13,upstream_gene_variant,,ENST00000518136,;,regulatory_region_variant,,ENSR00000209863,; C ENSG00000106031 ENST00000222753 Transcript missense_variant 429/5030 400/1167 134/388 S/A Tcg/Gcg 1 -1 HOXA13 HGNC HGNC:5102 protein_coding YES CCDS5412.1 ENSP00000222753 P31271 UPI000013C812 NM_000522.4 tolerated(0.82) benign(0.003) 1/2 Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF213,hmmpanther:PTHR24326,Gene3D:1.10.10.60 MODERATE 1 SNV 1 1 PASS GAC . . 27199678 AMPH . GRCh38 chr7 38631350 38631350 + Translation_Start_Site SNP A A C novel 7316-938 BS_MTDQBCQK A A c.2T>G p.Met1? p.M1? ENST00000356264 1/21 91 77 12 32 32 0 AMPH,start_lost,p.Met1?,ENST00000356264,NM_001635.3;AMPH,start_lost,p.Met1?,ENST00000325590,NM_139316.2;,regulatory_region_variant,,ENSR00000211147,; C ENSG00000078053 ENST00000356264 Transcript start_lost 218/3418 2/2088 1/695 M/R aTg/aGg 1 -1 AMPH HGNC HGNC:471 protein_coding YES CCDS5456.1 ENSP00000348602 P49418 UPI00001259EA NM_001635.3 deleterious(0) possibly_damaging(0.823) 1/21 hmmpanther:PTHR44669,hmmpanther:PTHR44669:SF1 HIGH 1 SNV 1 PASS CAT . . 38631350 VWC2 . GRCh38 chr7 49775614 49775614 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.179A>C p.Asn60Thr p.N60T ENST00000340652 2/4 88 78 9 41 41 0 VWC2,missense_variant,p.Asn60Thr,ENST00000340652,NM_198570.4;,regulatory_region_variant,,ENSR00000212360,; C ENSG00000188730 ENST00000340652 Transcript missense_variant 735/11299 179/978 60/325 N/T aAc/aCc 1 1 VWC2 HGNC HGNC:30200 protein_coding YES CCDS5508.1 ENSP00000341819 Q2TAL6 UPI00002373A5 NM_198570.4 tolerated_low_confidence(0.09) benign(0.01) 2/4 mobidb-lite MODERATE 1 SNV 1 PASS AAC . . 49775614 ZNF716 . GRCh38 chr7 57469776 57469776 + Nonsense_Mutation SNP A A T 7316-938 BS_MTDQBCQK A A c.1315A>T p.Lys439Ter p.K439* ENST00000420713 4/4 59 46 7 36 35 0 ZNF716,stop_gained,p.Lys439Ter,ENST00000420713,NM_001159279.1; T ENSG00000182111 ENST00000420713 Transcript stop_gained 1427/5197 1315/1488 439/495 K/* Aaa/Taa COSM5956808,COSM5956807 1 1 ZNF716 HGNC HGNC:32458 protein_coding YES CCDS55112.1 ENSP00000394248 A6NP11 UPI00004192FD NM_001159279.1 4/4 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 HIGH 1 SNV 4 1,1 PASS TAA . . 57469776 PCLO . GRCh38 chr7 83155122 83155122 + Missense_Mutation SNP T T A novel 7316-938 BS_MTDQBCQK T T c.1519A>T p.Thr507Ser p.T507S ENST00000333891 2/25 89 64 8 27 23 0 PCLO,missense_variant,p.Thr507Ser,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Thr507Ser,ENST00000423517,NM_014510.2; A ENSG00000186472 ENST00000333891 Transcript missense_variant 1857/20329 1519/15429 507/5142 T/S Aca/Tca 1 -1 PCLO HGNC HGNC:13406 protein_coding YES CCDS47630.1 ENSP00000334319 Q9Y6V0 UPI0001573469 NM_033026.5 tolerated(0.44) benign(0.015) 2/25 hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 2 1 PASS GTT . . 83155122 SAP25 . GRCh38 chr7 100573138 100573138 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.31T>G p.Tyr11Asp p.Y11D ENST00000614631 2/5 78 68 6 33 33 0 SAP25,missense_variant,p.Tyr109Asp,ENST00000622764,NM_001348680.1;SAP25,missense_variant,p.Tyr11Asp,ENST00000614631,;SAP25,missense_variant,p.Tyr11Asp,ENST00000538735,NM_001168682.1;AGFG2,downstream_gene_variant,,ENST00000300176,NM_006076.4;LRCH4,downstream_gene_variant,,ENST00000310300,NM_002319.4,NM_001289934.1;LRCH4,downstream_gene_variant,,ENST00000485554,;LRCH4,downstream_gene_variant,,ENST00000497245,;LRCH4,downstream_gene_variant,,ENST00000619071,;AC069281.2,non_coding_transcript_exon_variant,,ENST00000485071,;LRCH4,downstream_gene_variant,,ENST00000467201,;LRCH4,downstream_gene_variant,,ENST00000476881,;LRCH4,downstream_gene_variant,,ENST00000487697,;LRCH4,downstream_gene_variant,,ENST00000490359,;LRCH4,downstream_gene_variant,,ENST00000498539,;SAP25,upstream_gene_variant,,ENST00000611464,;IRS3P,downstream_gene_variant,,ENST00000223076,; C ENSG00000205307 ENST00000614631 Transcript missense_variant 387/987 31/600 11/199 Y/D Tat/Gat 1 -1 SAP25 HGNC HGNC:41908 protein_coding YES CCDS55137.1 ENSP00000481351 Q8TEE9 UPI0000034E0E deleterious(0.01) possibly_damaging(0.839) 2/5 hmmpanther:PTHR39231,Pfam_domain:PF15476 MODERATE SNV 2 PASS TAC . . 100573138 MUC17 . GRCh38 chr7 101040101 101040101 + Missense_Mutation SNP T T A novel 7316-938 BS_MTDQBCQK T T c.8685T>A p.Asp2895Glu p.D2895E ENST00000306151 3/13 90 64 9 31 29 0 MUC17,missense_variant,p.Asp2895Glu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Asp2895Glu,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; A ENSG00000169876 ENST00000306151 Transcript missense_variant 8749/14247 8685/13482 2895/4493 D/E gaT/gaA 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(0.11) possibly_damaging(0.739) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS ATA . . 101040101 MUC17 . GRCh38 chr7 101040133 101040133 + Missense_Mutation SNP G G C rs1486010098 7316-938 BS_MTDQBCQK G G c.8717G>C p.Gly2906Ala p.G2906A ENST00000306151 3/13 87 70 10 25 25 0 MUC17,missense_variant,p.Gly2906Ala,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2906Ala,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; C ENSG00000169876 ENST00000306151 Transcript missense_variant 8781/14247 8717/13482 2906/4493 G/A gGc/gCc rs1486010098,COSM4703948,COSM3082566 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0.024) 3/13 hmmpanther:PTHR37999,mobidb-lite,Low_complexity_(Seg):seg 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GGC . . 4.724e-06 1.008e-05 101040133 CCDC71L . GRCh38 chr7 106660317 106660317 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.580A>C p.Ile194Leu p.I194L ENST00000523505 1/1 91 75 13 39 36 1 CCDC71L,missense_variant,p.Ile194Leu,ENST00000523505,NM_175884.4;CCDC71L,missense_variant,p.His178Pro,ENST00000315965,;AC004917.1,intron_variant,,ENST00000490856,;AC004917.1,intron_variant,,ENST00000592441,;,regulatory_region_variant,,ENSR00000216494,; G ENSG00000253276 ENST00000523505 Transcript missense_variant 680/4232 580/708 194/235 I/L Atc/Ctc 1 -1 CCDC71L HGNC HGNC:26685 protein_coding YES CCDS55151.1 ENSP00000430897 Q8N9Z2 UPI00003CF1DF NM_175884.4 deleterious_low_confidence(0.01) benign(0.091) 1/1 hmmpanther:PTHR14484,hmmpanther:PTHR14484:SF1 MODERATE 1 SNV PASS ATG . . 106660317 KRBA1 . GRCh38 chr7 149733844 149733844 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.2992T>G p.Leu998Val p.L998V ENST00000496259 17/17 79 64 10 32 32 0 KRBA1,missense_variant,p.Leu964Val,ENST00000319551,NM_032534.3;KRBA1,missense_variant,p.Leu998Val,ENST00000496259,NM_001290187.1;KRBA1,missense_variant,p.Leu903Val,ENST00000485033,;KRBA1,3_prime_UTR_variant,,ENST00000621069,;KRBA1,downstream_gene_variant,,ENST00000489951,; G ENSG00000133619 ENST00000496259 Transcript missense_variant 3036/3763 2992/3195 998/1064 L/V Tta/Gta 1 1 KRBA1 HGNC HGNC:22228 protein_coding YES CCDS78285.1 ENSP00000418647 A0A0C4DH65 UPI0003F48BD7 NM_001290187.1 tolerated(0.47) possibly_damaging(0.597) 17/17 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR22740 MODERATE 1 SNV 1 PASS TTT . . 149733844 ZNF696 . GRCh38 chr8 143296489 143296489 + Missense_Mutation SNP C C A rs1345415296 7316-938 BS_MTDQBCQK C C c.814C>A p.Gln272Lys p.Q272K ENST00000330143 3/3 100 90 8 37 35 0 ZNF696,missense_variant,p.Gln272Lys,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; A ENSG00000185730 ENST00000330143 Transcript missense_variant 1223/2795 814/1125 272/374 Q/K Cag/Aag rs1345415296 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 tolerated(1) benign(0.001) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CCA . . 143296489 ZNF696 . GRCh38 chr8 143296498 143296498 + Missense_Mutation SNP A A T novel 7316-938 BS_MTDQBCQK A A c.823A>T p.Ser275Cys p.S275C ENST00000330143 3/3 109 85 9 38 36 0 ZNF696,missense_variant,p.Ser275Cys,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518432,;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000523891,; T ENSG00000185730 ENST00000330143 Transcript missense_variant 1232/2795 823/1125 275/374 S/C Agc/Tgc 1 1 ZNF696 HGNC HGNC:25872 protein_coding YES CCDS6399.1 ENSP00000328515 Q9H7X3 UPI000013E0BC NM_030895.2 deleterious(0) probably_damaging(0.962) 3/3 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR44201,hmmpanther:PTHR44201:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS CAG . . 143296498 ZNF517 . GRCh38 chr8 144808165 144808165 + Missense_Mutation SNP A A T novel 7316-938 BS_MTDQBCQK A A c.1249A>T p.Ile417Phe p.I417F ENST00000359971 5/5 107 91 10 38 37 0 ZNF517,missense_variant,p.Ile417Phe,ENST00000359971,NM_213605.2,NM_001317936.1;ZNF517,missense_variant,p.Ile417Phe,ENST00000531720,;ZNF517,missense_variant,p.Ile384Phe,ENST00000529429,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,downstream_gene_variant,,ENST00000528012,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,missense_variant,p.Ile417Phe,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,; T ENSG00000197363 ENST00000359971 Transcript missense_variant 1356/2335 1249/1479 417/492 I/F Atc/Ttc 1 1 ZNF517 HGNC HGNC:27984 protein_coding YES CCDS6434.1 ENSP00000353058 Q6ZMY9 UPI000045770F NM_213605.2,NM_001317936.1 deleterious(0.01) possibly_damaging(0.761) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:2.20.28.30,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS GAT . . 144808165 ZNF517 . GRCh38 chr8 144808174 144808174 + Missense_Mutation SNP A A G rs751812125 7316-938 BS_MTDQBCQK A A c.1258A>G p.Lys420Glu p.K420E ENST00000359971 5/5 110 93 8 37 36 0 ZNF517,missense_variant,p.Lys420Glu,ENST00000359971,NM_213605.2,NM_001317936.1;ZNF517,missense_variant,p.Lys420Glu,ENST00000531720,;ZNF517,missense_variant,p.Lys387Glu,ENST00000529429,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,downstream_gene_variant,,ENST00000528012,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,missense_variant,p.Lys420Glu,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,; G ENSG00000197363 ENST00000359971 Transcript missense_variant 1365/2335 1258/1479 420/492 K/E Aag/Gag rs751812125 1 1 ZNF517 HGNC HGNC:27984 protein_coding YES CCDS6434.1 ENSP00000353058 Q6ZMY9 UPI000045770F NM_213605.2,NM_001317936.1 tolerated(0.08) benign(0.12) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF20,hmmpanther:PTHR24379,Gene3D:2.20.28.30,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667 MODERATE 1 SNV 4 PASS CAA . . 3.352e-05 0.000121 0.0002019 144808174 GAS1 . GRCh38 chr9 86946778 86946778 + Translation_Start_Site SNP A A C novel 7316-938 BS_MTDQBCQK A A c.2T>G p.Met1? p.M1? ENST00000298743 1/1 68 53 10 40 40 0 GAS1,start_lost,p.Met1?,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;,regulatory_region_variant,,ENSR00000237164,; C ENSG00000180447 ENST00000298743 Transcript start_lost 412/2827 2/1038 1/345 M/R aTg/aGg 1 -1 GAS1 HGNC HGNC:4165 protein_coding YES CCDS6674.1 ENSP00000298743 P54826 UPI0000140B67 NM_002048.2 tolerated_low_confidence(0.07) benign(0.127) 1/1 Cleavage_site_(Signalp):SignalP-noTM HIGH SNV 1 PASS CAT . . 86946778 AUH . GRCh38 chr9 91361633 91361633 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.257A>C p.Asn86Thr p.N86T ENST00000375731 1/10 80 69 8 28 28 0 AUH,missense_variant,p.Asn86Thr,ENST00000375731,NM_001698.2;AUH,missense_variant,p.Asn86Thr,ENST00000303617,NM_001306190.1;AUH,non_coding_transcript_exon_variant,,ENST00000478465,;,regulatory_region_variant,,ENSR00000237746,; G ENSG00000148090 ENST00000375731 Transcript missense_variant 281/1577 257/1020 86/339 N/T aAc/aCc 1 -1 AUH HGNC HGNC:890 protein_coding YES CCDS6689.1 ENSP00000364883 Q13825 UPI0000072F64 NM_001698.2 deleterious(0.01) benign(0.143) 1/10 cd06558,hmmpanther:PTHR11941:SF12,hmmpanther:PTHR11941,Gene3D:3.90.226.10,Pfam_domain:PF00378,Superfamily_domains:SSF52096 MODERATE 1 SNV 1 1 PASS GTT . . 91361633 UGCG . GRCh38 chr9 111897217 111897217 + Translation_Start_Site SNP T T G rs556550380 7316-938 BS_MTDQBCQK T T c.2T>G p.Met1? p.M1? ENST00000374279 1/9 73 63 7 37 37 0 UGCG,start_lost,p.Met1?,ENST00000374279,NM_003358.2;UGCG,non_coding_transcript_exon_variant,,ENST00000495085,;UGCG,non_coding_transcript_exon_variant,,ENST00000490110,;UGCG,non_coding_transcript_exon_variant,,ENST00000489355,;,regulatory_region_variant,,ENSR00000239870,; G ENSG00000148154 ENST00000374279 Transcript start_lost 452/4007 2/1185 1/394 M/R aTg/aGg rs556550380 1 1 UGCG HGNC HGNC:12524 protein_coding YES CCDS6782.1 ENSP00000363397 Q16739 A0A024R157 UPI0000052740 NM_003358.2 deleterious_low_confidence(0) probably_damaging(0.917) 1/9 HIGH 1 SNV 1 PASS ATG . . 111897217 OTUD1 . GRCh38 chr10 23439852 23439852 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.395T>G p.Val132Gly p.V132G ENST00000376495 1/1 80 62 16 40 39 0 OTUD1,missense_variant,p.Val132Gly,ENST00000376495,NM_001145373.2;,regulatory_region_variant,,ENSR00000025586,; G ENSG00000165312 ENST00000376495 Transcript missense_variant 395/2933 395/1446 132/481 V/G gTt/gGt 1 1 OTUD1 HGNC HGNC:27346 protein_coding YES CCDS44366.1 ENSP00000365678 Q5VV17 UPI0000458A32 NM_001145373.2 tolerated(0.22) benign(0) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF15 MODERATE 1 SNV PASS GTT . . 23439852 NEURL1 . GRCh38 chr10 103584848 103584848 + Missense_Mutation SNP A A G novel 7316-938 BS_MTDQBCQK A A c.962A>G p.Asp321Gly p.D321G ENST00000369780 4/6 63 46 8 28 26 0 NEURL1,missense_variant,p.Asp321Gly,ENST00000369780,NM_004210.4;,regulatory_region_variant,,ENSR00000032909,; G ENSG00000107954 ENST00000369780 Transcript missense_variant 1371/4314 962/1725 321/574 D/G gAc/gGc 1 1 NEURL1 HGNC HGNC:7761 protein_coding YES CCDS7551.1 ENSP00000358795 O76050 UPI0000073F46 NM_004210.4 tolerated(0.42) possibly_damaging(0.724) 4/6 PROSITE_profiles:PS51065,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF13,Gene3D:1.10.1170.10,Pfam_domain:PF07177,SMART_domains:SM00588 MODERATE 1 SNV 1 PASS GAC . . 103584848 CDHR5 . GRCh38 chr11 618683 618683 + Missense_Mutation SNP T T C rs200124815 7316-938 BS_MTDQBCQK T T c.1876A>G p.Thr626Ala p.T626A ENST00000358353 14/16 90 64 11 29 25 1 CDHR5,missense_variant,p.Thr626Ala,ENST00000358353,;CDHR5,missense_variant,p.Thr626Ala,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,intron_variant,,ENST00000349570,NM_031264.3;IRF7,upstream_gene_variant,,ENST00000330243,;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,upstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,upstream_gene_variant,,ENST00000397570,;IRF7,upstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,upstream_gene_variant,,ENST00000525445,;CDHR5,downstream_gene_variant,,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;IRF7,upstream_gene_variant,,ENST00000469048,;IRF7,upstream_gene_variant,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;IRF7,upstream_gene_variant,,ENST00000528413,;CDHR5,downstream_gene_variant,,ENST00000531899,;IRF7,upstream_gene_variant,,ENST00000532096,;IRF7,upstream_gene_variant,,ENST00000532326,;IRF7,upstream_gene_variant,,ENST00000532788,;IRF7,upstream_gene_variant,,ENST00000533182,;IRF7,upstream_gene_variant,,ENST00000533190,; C ENSG00000099834 ENST00000358353 Transcript missense_variant 2199/3635 1876/2538 626/845 T/A Acc/Gcc rs200124815,COSM226243 1 -1 CDHR5 HGNC HGNC:7521 protein_coding YES CCDS7707.1 ENSP00000351118 Q9HBB8 UPI0000456444 tolerated(1) benign(0) 14/16 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR45160 0,1 MODERATE SNV 5 0,1 PASS GTT . . 0.0001204 0.0004133 0.00022 0.0003092 1.99e-05 0.0002561 618683 SCT . GRCh38 chr11 627143 627143 + Translation_Start_Site SNP T T G 7316-938 BS_MTDQBCQK T T c.1A>C p.Met1? p.M1? ENST00000176195 1/4 148 117 21 37 35 1 SCT,start_lost,p.Met1?,ENST00000176195,NM_021920.3;CDHR5,upstream_gene_variant,,ENST00000349570,NM_031264.3;CDHR5,upstream_gene_variant,,ENST00000358353,;CDHR5,upstream_gene_variant,,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,upstream_gene_variant,,ENST00000526077,;CDHR5,upstream_gene_variant,,ENST00000531088,;CDHR5,upstream_gene_variant,,ENST00000534311,;CDHR5,upstream_gene_variant,,ENST00000529337,;CDHR5,upstream_gene_variant,,ENST00000531177,;CDHR5,upstream_gene_variant,,ENST00000531899,; G ENSG00000070031 ENST00000176195 Transcript start_lost 1/366 1/366 1/121 M/L Atg/Ctg COSM6213971 1 -1 SCT HGNC HGNC:10607 protein_coding YES CCDS7709.1 ENSP00000176195 P09683 UPI00001357C7 NM_021920.3 deleterious_low_confidence(0) benign(0.035) 1/4 Cleavage_site_(Signalp):SignalP-noTM 1 HIGH 1 SNV 1 1 PASS ATG . . 627143 DEAF1 . GRCh38 chr11 694974 694974 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.74T>G p.Val25Gly p.V25G ENST00000382409 1/12 90 69 13 33 33 0 DEAF1,missense_variant,p.Val25Gly,ENST00000382409,NM_021008.3,NM_001293634.1;EPS8L2,intron_variant,,ENST00000524763,;TMEM80,upstream_gene_variant,,ENST00000397510,NM_001042463.2,NM_174940.3;TMEM80,upstream_gene_variant,,ENST00000397512,;TMEM80,upstream_gene_variant,,ENST00000488769,;TMEM80,upstream_gene_variant,,ENST00000526170,NM_001276274.1;TMEM80,upstream_gene_variant,,ENST00000608174,NM_001276253.1;DEAF1,intron_variant,,ENST00000525626,;DEAF1,upstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000526857,;DEAF1,upstream_gene_variant,,ENST00000528864,;DEAF1,upstream_gene_variant,,ENST00000529727,;TMEM80,upstream_gene_variant,,ENST00000492023,;DEAF1,upstream_gene_variant,,ENST00000529717,;,regulatory_region_variant,,ENSR00000035675,; C ENSG00000177030 ENST00000382409 Transcript missense_variant 559/2500 74/1698 25/565 V/G gTg/gGg 1 -1 DEAF1 HGNC HGNC:14677 protein_coding YES CCDS31327.1 ENSP00000371846 O75398 UPI00001290E6 NM_021008.3,NM_001293634.1 tolerated_low_confidence(0.51) benign(0.021) 1/12 Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix MODERATE 1 SNV 1 1 PASS CAC . . 694974 SLC25A22 . GRCh38 chr11 792872 792872 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.410T>G p.Ile137Ser p.I137S ENST00000320230 6/10 101 90 9 27 24 0 SLC25A22,missense_variant,p.Ile137Ser,ENST00000320230,NM_024698.5;SLC25A22,missense_variant,p.Ile137Ser,ENST00000628067,NM_001191061.1;SLC25A22,missense_variant,p.Ile137Ser,ENST00000531214,NM_001191060.1;SLC25A22,missense_variant,p.Ile162Ser,ENST00000481290,;SLC25A22,missense_variant,p.Ile137Ser,ENST00000627843,;SLC25A22,missense_variant,p.Ile137Ser,ENST00000532484,;SLC25A22,missense_variant,p.Ile137Ser,ENST00000531534,;SLC25A22,missense_variant,p.Ile137Ser,ENST00000625419,;SLC25A22,missense_variant,p.Ile133Ser,ENST00000531437,;SLC25A22,missense_variant,p.Ile137Ser,ENST00000533385,;SLC25A22,missense_variant,p.Ile137Ser,ENST00000528606,;CEND1,upstream_gene_variant,,ENST00000330106,NM_016564.3;SLC25A22,downstream_gene_variant,,ENST00000456706,;SLC25A22,downstream_gene_variant,,ENST00000526152,;SLC25A22,downstream_gene_variant,,ENST00000527723,;SLC25A22,downstream_gene_variant,,ENST00000528936,;SLC25A22,downstream_gene_variant,,ENST00000529066,;SLC25A22,downstream_gene_variant,,ENST00000530360,;PANO1,upstream_gene_variant,,ENST00000620120,NM_001293167.1;SLC25A22,downstream_gene_variant,,ENST00000625752,;SLC25A22,downstream_gene_variant,,ENST00000629634,;CEND1,upstream_gene_variant,,ENST00000524587,;SLC25A22,downstream_gene_variant,,ENST00000625316,;SLC25A22,downstream_gene_variant,,ENST00000629602,;SLC25A22,splice_region_variant,,ENST00000529351,;SLC25A22,splice_region_variant,,ENST00000531514,;SLC25A22,splice_region_variant,,ENST00000630809,;SLC25A22,downstream_gene_variant,,ENST00000524891,;SLC25A22,downstream_gene_variant,,ENST00000525010,;SLC25A22,downstream_gene_variant,,ENST00000525644,;SLC25A22,downstream_gene_variant,,ENST00000527127,;SLC25A22,downstream_gene_variant,,ENST00000527734,;SLC25A22,downstream_gene_variant,,ENST00000532361,;SLC25A22,downstream_gene_variant,,ENST00000532459,; C ENSG00000177542 ENST00000320230 Transcript missense_variant,splice_region_variant 794/2796 410/972 137/323 I/S aTt/aGt 1 -1 SLC25A22 HGNC HGNC:19954 protein_coding YES CCDS7715.1 ENSP00000322020 Q9H936 UPI0000073CD3 NM_024698.5 tolerated(0.09) possibly_damaging(0.471) 6/10 Gene3D:1.50.40.10,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF380,Superfamily_domains:SSF103506 MODERATE 1 SNV 1 1 PASS AAT . . 792872 MUC5AC . GRCh38 chr11 1189301 1189301 + Missense_Mutation SNP C C G rs1388322920 7316-938 BS_MTDQBCQK C C c.11156C>G p.Thr3719Ser p.T3719S ENST00000621226 31/49 91 75 12 41 39 0 MUC5AC,missense_variant,p.Thr3719Ser,ENST00000621226,NM_001304359.1;,regulatory_region_variant,,ENSR00000262355,; G ENSG00000215182 ENST00000621226 Transcript missense_variant 11203/17448 11156/16965 3719/5654 T/S aCc/aGc rs1388322920 1 1 MUC5AC HGNC HGNC:7515 protein_coding YES CCDS76369.1 ENSP00000485659 P98088 UPI0004F23658 NM_001304359.1 tolerated(0.84) unknown(0) 31/49 hmmpanther:PTHR11339,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF310,hmmpanther:PTHR11339:SF310,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ACC . . 1189301 PTGDR2 . GRCh38 chr11 60852637 60852637 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.1086A>C p.Glu362Asp p.E362D ENST00000332539 2/2 102 78 23 35 34 0 PTGDR2,missense_variant,p.Glu362Asp,ENST00000332539,NM_004778.2;CCDC86,downstream_gene_variant,,ENST00000227520,NM_024098.3;CCDC86,downstream_gene_variant,,ENST00000545580,;AP000777.3,upstream_gene_variant,,ENST00000538705,;CCDC86,downstream_gene_variant,,ENST00000535217,;,regulatory_region_variant,,ENSR00000040152,; G ENSG00000183134 ENST00000332539 Transcript missense_variant 1198/2895 1086/1188 362/395 E/D gaA/gaC 1 -1 PTGDR2 HGNC HGNC:4502 protein_coding YES CCDS7994.1 ENSP00000332812 Q9Y5Y4 UPI00001B011A NM_004778.2 tolerated_low_confidence(0.62) benign(0) 2/2 mobidb-lite,hmmpanther:PTHR24229:SF8,hmmpanther:PTHR24229 MODERATE 1 SNV 1 PASS GTT . . 60852637 CD6 . GRCh38 chr11 61008531 61008531 + Splice_Region SNP T T G novel 7316-938 BS_MTDQBCQK T T c.470-3T>G ENST00000313421 140 113 20 34 34 0 CD6,splice_region_variant,,ENST00000313421,NM_006725.4;CD6,splice_region_variant,,ENST00000352009,NM_001254750.1;CD6,splice_region_variant,,ENST00000433107,;CD6,splice_region_variant,,ENST00000452451,NM_001254751.1;CD6,splice_region_variant,,ENST00000542157,;CD6,upstream_gene_variant,,ENST00000538611,;CD6,intron_variant,,ENST00000545105,;CD6,downstream_gene_variant,,ENST00000538288,;CD6,splice_region_variant,,ENST00000344931,;CD6,non_coding_transcript_exon_variant,,ENST00000541964,;CD6,downstream_gene_variant,,ENST00000542254,;,regulatory_region_variant,,ENSR00000040184,; G ENSG00000013725 ENST00000313421 Transcript splice_region_variant,intron_variant 1 1 CD6 HGNC HGNC:1691 protein_coding YES CCDS7999.1 ENSP00000323280 P30203 UPI000013F532 NM_006725.4 3/12 LOW 1 SNV 1 PASS CTA . . 61008531 FAM186A . GRCh38 chr12 50352988 50352988 + Missense_Mutation SNP T T G rs1269471437 7316-938 BS_MTDQBCQK T T c.3844A>C p.Lys1282Gln p.K1282Q ENST00000327337 4/8 53 31 16 49 42 2 FAM186A,missense_variant,p.Lys1282Gln,ENST00000543111,;FAM186A,missense_variant,p.Lys1282Gln,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,; G ENSG00000185958 ENST00000327337 Transcript missense_variant 3844/7127 3844/7056 1282/2351 K/Q Aag/Cag rs1269471437,COSM6299926 1 -1 FAM186A HGNC HGNC:26980 protein_coding YES CCDS44878.1 ENSP00000329995 A6NE01 UPI00001D7978 NM_001145475.1 tolerated(1) benign(0) 4/8 hmmpanther:PTHR33590:SF2,hmmpanther:PTHR33590,Gene3D:1.10.8.360 0,1 MODERATE 1 SNV 5 0,1 PASS TTA . . 50352988 TNS2 . GRCh38 chr12 53059458 53059458 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.1847A>C p.Asn616Thr p.N616T ENST00000314276 18/29 96 83 13 25 24 0 TNS2,missense_variant,p.Asn606Thr,ENST00000314250,NM_170754.2;TNS2,missense_variant,p.Asn616Thr,ENST00000314276,NM_015319.2;TNS2,missense_variant,p.Asn482Thr,ENST00000379902,NM_198316.1;TNS2,missense_variant,p.Asn606Thr,ENST00000552570,;TNS2,missense_variant,p.Asn606Thr,ENST00000549700,;TNS2,missense_variant,p.Asn606Thr,ENST00000546602,;SPRYD3,downstream_gene_variant,,ENST00000301463,NM_032840.2;TNS2,downstream_gene_variant,,ENST00000602335,;MIR6757,downstream_gene_variant,,ENST00000612099,;TNS2,non_coding_transcript_exon_variant,,ENST00000549311,;TNS2,downstream_gene_variant,,ENST00000546759,;TNS2,upstream_gene_variant,,ENST00000546772,;TNS2,downstream_gene_variant,,ENST00000547223,;TNS2,downstream_gene_variant,,ENST00000549498,;TNS2,downstream_gene_variant,,ENST00000549789,;TNS2,upstream_gene_variant,,ENST00000550048,;TNS2,upstream_gene_variant,,ENST00000550660,;TNS2,upstream_gene_variant,,ENST00000551583,;TNS2,downstream_gene_variant,,ENST00000551693,;TNS2,upstream_gene_variant,,ENST00000552168,; C ENSG00000111077 ENST00000314276 Transcript missense_variant 2042/4944 1847/4260 616/1419 N/T aAt/aCt 1 1 TNS2 HGNC HGNC:19737 protein_coding YES CCDS8842.1 ENSP00000319756 Q63HR2 UPI000013F790 NM_015319.2 tolerated(0.13) benign(0.124) 18/29 hmmpanther:PTHR12305:SF58,hmmpanther:PTHR12305 MODERATE 1 SNV 1 PASS AAT . . 53059458 TARBP2 . GRCh38 chr12 53501409 53501409 + Translation_Start_Site SNP A A C novel 7316-938 BS_MTDQBCQK A A c.1A>C p.Met1? p.M1? ENST00000266987 1/9 104 89 12 37 37 0 TARBP2,start_lost,p.Met1?,ENST00000266987,NM_134323.1;TARBP2,start_lost,p.Met1?,ENST00000552857,;TARBP2,5_prime_UTR_variant,,ENST00000547064,;TARBP2,intron_variant,,ENST00000456234,NM_004178.4;MAP3K12,upstream_gene_variant,,ENST00000267079,NM_006301.3;TARBP2,upstream_gene_variant,,ENST00000394357,NM_134324.2;MAP3K12,upstream_gene_variant,,ENST00000547488,NM_001193511.1;MAP3K12,upstream_gene_variant,,ENST00000548565,;TARBP2,upstream_gene_variant,,ENST00000550407,;TARBP2,upstream_gene_variant,,ENST00000552817,;AC023509.4,upstream_gene_variant,,ENST00000602306,;MAP3K12,upstream_gene_variant,,ENST00000547151,;TARBP2,upstream_gene_variant,,ENST00000549028,;TARBP2,start_lost,p.Met1?,ENST00000550147,;TARBP2,start_lost,p.Met1?,ENST00000548971,;TARBP2,non_coding_transcript_exon_variant,,ENST00000549610,;TARBP2,non_coding_transcript_exon_variant,,ENST00000546889,;TARBP2,non_coding_transcript_exon_variant,,ENST00000552650,;TARBP2,non_coding_transcript_exon_variant,,ENST00000547388,;TARBP2,upstream_gene_variant,,ENST00000546763,;TARBP2,upstream_gene_variant,,ENST00000547541,;TARBP2,upstream_gene_variant,,ENST00000549572,;TARBP2,upstream_gene_variant,,ENST00000549679,;TARBP2,upstream_gene_variant,,ENST00000551157,;TARBP2,upstream_gene_variant,,ENST00000551741,;MAP3K12,upstream_gene_variant,,ENST00000551895,;,regulatory_region_variant,,ENSR00000052203,; C ENSG00000139546 ENST00000266987 Transcript start_lost 484/1867 1/1101 1/366 M/L Atg/Ctg 1 1 TARBP2 HGNC HGNC:11569 protein_coding YES CCDS8861.1 ENSP00000266987 Q15633 UPI0000071D96 NM_134323.1 deleterious_low_confidence(0) benign(0.267) 1/9 HAMAP:MF_03034 HIGH 1 SNV 1 PASS AAT . . 53501409 SLC16A7 . GRCh38 chr12 59596243 59596243 + Splice_Region SNP A A C novel 7316-938 BS_MTDQBCQK A A c.-130+7A>C ENST00000547379 98 87 10 32 32 0 SLC16A7,splice_region_variant,,ENST00000547379,;SLC16A7,splice_region_variant,,ENST00000549465,;SLC16A7,splice_region_variant,,ENST00000552432,NM_001270623.1,NM_001270622.1;SLC16A7,upstream_gene_variant,,ENST00000552024,;,regulatory_region_variant,,ENSR00000052877,; C ENSG00000118596 ENST00000547379 Transcript splice_region_variant,intron_variant 1 1 SLC16A7 HGNC HGNC:10928 protein_coding CCDS8961.1 ENSP00000448071 O60669 A0A024RBB2 UPI00000722FD 1/5 LOW 1 SNV 1 PASS TAC . . 59596243 SELPLG . GRCh38 chr12 108623678 108623678 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.678A>C p.Glu226Asp p.E226D ENST00000228463 2/2 76 45 12 42 38 0 SELPLG,missense_variant,p.Glu210Asp,ENST00000550948,NM_003006.4;SELPLG,missense_variant,p.Glu226Asp,ENST00000228463,NM_001206609.1;SELPLG,missense_variant,p.Glu200Asp,ENST00000388962,; G ENSG00000110876 ENST00000228463 Transcript missense_variant 855/1704 678/1287 226/428 E/D gaA/gaC 1 -1 SELPLG HGNC HGNC:10722 protein_coding YES CCDS55881.1 ENSP00000228463 Q14242 UPI0002065776 NM_001206609.1 tolerated(0.11) possibly_damaging(0.794) 2/2 hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg MODERATE 1 SNV 2 PASS CTT . . 108623678 BRI3BP . GRCh38 chr12 124993791 124993791 + Translation_Start_Site SNP A A C novel 7316-938 BS_MTDQBCQK A A c.1A>C p.Met1? p.M1? ENST00000341446 1/3 53 38 10 29 28 1 BRI3BP,start_lost,p.Met1?,ENST00000341446,NM_080626.5;DHX37,upstream_gene_variant,,ENST00000308736,NM_032656.3;DHX37,upstream_gene_variant,,ENST00000539298,;,regulatory_region_variant,,ENSR00000059016,; C ENSG00000184992 ENST00000341446 Transcript start_lost 92/6648 1/756 1/251 M/L Atg/Ctg 1 1 BRI3BP HGNC HGNC:14251 protein_coding YES CCDS9262.1 ENSP00000340761 Q8WY22 UPI000006D8B0 NM_080626.5 deleterious_low_confidence(0) benign(0) 1/3 Cleavage_site_(Signalp):SignalP-noTM HIGH 1 SNV 1 PASS CAT . . 124993791 DACH1 . GRCh38 chr13 71866553 71866553 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.217A>C p.Thr73Pro p.T73P ENST00000613252 1/11 86 63 14 51 51 0 DACH1,missense_variant,p.Thr73Pro,ENST00000613252,NM_080759.5;DACH1,missense_variant,p.Thr73Pro,ENST00000611519,NM_080760.5;DACH1,missense_variant,p.Thr73Pro,ENST00000620444,NM_004392.6;DACH1,missense_variant,p.Thr73Pro,ENST00000619232,;,regulatory_region_variant,,ENSR00000063548,; G ENSG00000276644 ENST00000613252 Transcript missense_variant 640/5233 217/2121 73/706 T/P Acc/Ccc 1 -1 DACH1 HGNC HGNC:2663 protein_coding YES CCDS41899.1 ENSP00000482245 Q9UI36 UPI000007308B NM_080759.5 deleterious_low_confidence(0.02) benign(0) 1/11 mobidb-lite MODERATE 1 SNV 1 PASS GTA . . 71866553 POTEG . GRCh38 chr14 19434005 19434005 + Missense_Mutation SNP C C G novel 7316-938 BS_MTDQBCQK C C c.285G>C p.Arg95Ser p.R95S ENST00000547848 1/11 172 140 14 85 83 0 POTEG,missense_variant,p.Arg95Ser,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Arg95Ser,ENST00000547722,;POTEG,missense_variant,p.Arg95Ser,ENST00000622767,;,regulatory_region_variant,,ENSR00000273548,; G ENSG00000187537 ENST00000547848 Transcript missense_variant 337/2204 285/1527 95/508 R/S agG/agC 1 -1 POTEG HGNC HGNC:33896 protein_coding YES CCDS73610.1 ENSP00000450853 Q6S5H5 UPI00004443FE NM_001005356.2 tolerated_low_confidence(0.14) possibly_damaging(0.724) 1/11 Gene3D:1.25.40.20,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF56 MODERATE 1 SNV 1 PASS TCC . . 19434005 CGRRF1 . GRCh38 chr14 54530196 54530196 + Missense_Mutation SNP A A G rs199977377 7316-938 BS_MTDQBCQK A A c.392A>G p.Tyr131Cys p.Y131C ENST00000216420 3/6 62 52 7 46 45 0 CGRRF1,missense_variant,p.Tyr131Cys,ENST00000216420,NM_006568.2;CGRRF1,missense_variant,p.Tyr163Cys,ENST00000557317,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000557512,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000557184,;CGRRF1,3_prime_UTR_variant,,ENST00000557755,;CGRRF1,non_coding_transcript_exon_variant,,ENST00000556216,;CGRRF1,intron_variant,,ENST00000554791,;,regulatory_region_variant,,ENSR00000068705,; G ENSG00000100532 ENST00000216420 Transcript missense_variant 524/2057 392/999 131/332 Y/C tAt/tGt rs199977377,COSM956303 1 1 CGRRF1 HGNC HGNC:15528 protein_coding YES CCDS9719.1 ENSP00000216420 Q99675 UPI00000712D0 NM_006568.2 tolerated(0.17) possibly_damaging(0.887) 3/6 hmmpanther:PTHR15379 0,1 MODERATE 1 SNV 1 0,1 PASS TAT . . 3.28e-05 0.0001218 1.801e-05 0.0001855 3.299e-05 54530196 NIPA1 . GRCh38 chr15 22786657 22786657 + Translation_Start_Site SNP A A C novel 7316-938 BS_MTDQBCQK A A c.1A>C p.Met1? p.M1? ENST00000337435 1/5 58 42 10 30 29 0 NIPA1,start_lost,p.Met1?,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000560105,;,regulatory_region_variant,,ENSR00000073999,; C ENSG00000170113 ENST00000337435 Transcript start_lost 26/6567 1/990 1/329 M/L Atg/Ctg 1 1 NIPA1 HGNC HGNC:17043 protein_coding YES CCDS73691.1 ENSP00000337452 Q7RTP0 UPI00001D9756 NM_144599.4 benign(0) 1/5 HIGH 1 SNV 1 1 PASS AAT . . 22786657 INAFM2 . GRCh38 chr15 40324456 40324456 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.401A>C p.Glu134Ala p.E134A ENST00000638170 1/1 78 53 12 40 40 0 INAFM2,missense_variant,p.Glu134Ala,ENST00000638170,NM_001301268.1;INAFM2,upstream_gene_variant,,ENST00000560415,;,regulatory_region_variant,,ENSR00000075497,; C ENSG00000259330 ENST00000638170 Transcript missense_variant 793/3052 401/462 134/153 E/A gAg/gCg 1 1 INAFM2 HGNC HGNC:35165 protein_coding YES ENSP00000492634 P0DMQ5 UPI000047D6DC NM_001301268.1 deleterious_low_confidence(0) unknown(0) 1/1 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34929 MODERATE 1 SNV PASS GAG . . 40324456 ACAN . GRCh38 chr15 88856906 88856906 + Missense_Mutation SNP A A G rs200437529 7316-938 BS_MTDQBCQK A A c.4321A>G p.Thr1441Ala p.T1441A ENST00000439576 12/18 61 46 10 28 27 1 ACAN,missense_variant,p.Thr1441Ala,ENST00000560601,;ACAN,missense_variant,p.Thr1441Ala,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Thr1422Ala,ENST00000617301,;ACAN,missense_variant,p.Thr1441Ala,ENST00000559004,;ACAN,missense_variant,p.Thr1441Ala,ENST00000561243,;ACAN,missense_variant,p.Thr1441Ala,ENST00000352105,NM_001135.3;,regulatory_region_variant,,ENSR00000278890,; G ENSG00000157766 ENST00000439576 Transcript missense_variant 4695/8840 4321/7593 1441/2530 T/A Act/Gct rs200437529,COSM1129069,COSM1129068 1 1 ACAN HGNC HGNC:319 protein_coding YES CCDS53970.1 ENSP00000387356 P16112 UPI0001B23381 NM_013227.3 tolerated(0.44) benign(0.186) 12/18 hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS TAC . . 4.537e-05 0.0001333 8.987e-05 6.315e-05 88856906 SPNS1 . GRCh38 chr16 28975230 28975230 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.79T>G p.Leu27Val p.L27V ENST00000311008 1/12 79 63 14 28 27 0 SPNS1,missense_variant,p.Leu27Val,ENST00000311008,NM_032038.2,NM_001142448.1;SPNS1,missense_variant,p.Leu27Val,ENST00000334536,NM_001142451.1;SPNS1,missense_variant,p.Leu72Val,ENST00000565975,;SPNS1,missense_variant,p.Leu27Val,ENST00000352260,NM_001142449.1;SPNS1,missense_variant,p.Leu16Val,ENST00000566059,;SPNS1,missense_variant,p.Leu12Val,ENST00000564476,;SPNS1,missense_variant,p.Leu27Val,ENST00000567771,;SPNS1,5_prime_UTR_variant,,ENST00000323081,NM_001142450.1;SPNS1,5_prime_UTR_variant,,ENST00000568388,;SPNS1,upstream_gene_variant,,ENST00000568829,;AC109460.1,intron_variant,,ENST00000567209,;SPNS1,upstream_gene_variant,,ENST00000561868,;AC109460.3,non_coding_transcript_exon_variant,,ENST00000569969,;SPNS1,non_coding_transcript_exon_variant,,ENST00000568900,;,regulatory_region_variant,,ENSR00000084951,; G ENSG00000169682 ENST00000311008 Transcript missense_variant 456/2208 79/1587 27/528 L/V Ttg/Gtg 1 1 SPNS1 HGNC HGNC:30621 protein_coding YES CCDS10646.1 ENSP00000309945 Q9H2V7 UPI000004DB99 NM_032038.2,NM_001142448.1 tolerated(0.47) benign(0.001) 1/12 Low_complexity_(Seg):seg,mobidb-lite MODERATE 1 SNV 1 PASS GTT . . 28975230 HSD11B2 . GRCh38 chr16 67436149 67436150 + Splice_Region INS - - C rs760711395 7316-938 BS_MTDQBCQK - - c.664+16dup ENST00000326152 80 67 6 30 29 0 HSD11B2,splice_region_variant,,ENST00000326152,NM_000196.3;ATP6V0D1,downstream_gene_variant,,ENST00000290949,NM_004691.4;ATP6V0D1,downstream_gene_variant,,ENST00000540149,;ATP6V0D1,downstream_gene_variant,,ENST00000564615,;ATP6V0D1,downstream_gene_variant,,ENST00000565835,;ATP6V0D1,downstream_gene_variant,,ENST00000602876,;AC009061.1,upstream_gene_variant,,ENST00000567261,;HSD11B2,splice_region_variant,,ENST00000567684,;ATP6V0D1,downstream_gene_variant,,ENST00000567694,;ATP6V0D1,downstream_gene_variant,,ENST00000426604,;ATP6V0D1,downstream_gene_variant,,ENST00000561852,;ATP6V0D1,downstream_gene_variant,,ENST00000563064,;ATP6V0D1,downstream_gene_variant,,ENST00000563305,;ATP6V0D1,downstream_gene_variant,,ENST00000564191,;ATP6V0D1,downstream_gene_variant,,ENST00000564788,;ATP6V0D1,downstream_gene_variant,,ENST00000566322,;HSD11B2,downstream_gene_variant,,ENST00000566606,;ATP6V0D1,downstream_gene_variant,,ENST00000567170,;ATP6V0D1,downstream_gene_variant,,ENST00000568620,;HSD11B2,downstream_gene_variant,,ENST00000569303,; C ENSG00000176387 ENST00000326152 Transcript splice_region_variant,intron_variant rs760711395,TMP_ESP_16_67470053_67470053 1 1 HSD11B2 HGNC HGNC:5209 protein_coding YES CCDS10837.1 ENSP00000316786 P80365 UPI000014185A NM_000196.3 3/4 0.03129 0.02157 LOW 1 insertion 1 9 1 PASS TGC . . 0.002409 0.004221 0.0008873 0.0005672 0.004151 0.001182 0.003025 0.002509 0.001502 67436149 DNAAF1 . GRCh38 chr16 84170290 84170290 + Missense_Mutation SNP C C G rs375641621 7316-938 BS_MTDQBCQK C C c.1462C>G p.Arg488Gly p.R488G ENST00000378553 8/12 47 39 7 35 34 0 DNAAF1,missense_variant,p.Arg488Gly,ENST00000378553,NM_178452.5;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,NM_001318756.1;DNAAF1,downstream_gene_variant,,ENST00000567666,;DNAAF1,upstream_gene_variant,,ENST00000623406,;DNAAF1,3_prime_UTR_variant,,ENST00000563093,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,; G ENSG00000154099 ENST00000378553 Transcript missense_variant 1586/2379 1462/2178 488/725 R/G Cga/Gga rs375641621,CM133709,COSM4129431 1 1 DNAAF1 HGNC HGNC:30539 protein_coding YES CCDS10943.2 ENSP00000367815 Q8NEP3 A0A140VJN4 UPI000059D3C9 NM_178452.5 tolerated(0.4) benign(0) 8/12 mobidb-lite 0,0,1 MODERATE 1 SNV 1 0,1,1 1 PASS TCG . . 2.448e-05 5.407e-05 84170290 C1QBP . GRCh38 chr17 5438992 5438992 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.82T>G p.Phe28Val p.F28V ENST00000225698 1/6 117 103 13 47 46 0 C1QBP,missense_variant,p.Phe28Val,ENST00000225698,NM_001212.3;C1QBP,intron_variant,,ENST00000570805,;DHX33,downstream_gene_variant,,ENST00000225296,NM_020162.3;DHX33,downstream_gene_variant,,ENST00000433302,;DHX33,downstream_gene_variant,,ENST00000572490,NM_001199699.1;C1QBP,upstream_gene_variant,,ENST00000574444,;C1QBP,upstream_gene_variant,,ENST00000576122,;C1QBP,non_coding_transcript_exon_variant,,ENST00000573406,;C1QBP,upstream_gene_variant,,ENST00000573204,;DHX33,downstream_gene_variant,,ENST00000575153,;,regulatory_region_variant,,ENSR00000090624,; C ENSG00000108561 ENST00000225698 Transcript missense_variant 164/1169 82/849 28/282 F/V Ttc/Gtc 1 -1 C1QBP HGNC HGNC:1243 protein_coding YES CCDS11071.1 ENSP00000225698 Q07021 UPI000012EAEC NM_001212.3 tolerated(0.24) benign(0) 1/6 MODERATE 1 SNV 1 1 PASS AAA . . 5438992 ALKBH5 . GRCh38 chr17 18184314 18184314 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.71A>C p.Lys24Thr p.K24T ENST00000399138 1/4 89 76 10 44 42 1 ALKBH5,missense_variant,p.Lys24Thr,ENST00000399138,NM_017758.3;ALKBH5,intron_variant,,ENST00000541285,;MYO15A,downstream_gene_variant,,ENST00000205890,NM_016239.3;MYO15A,downstream_gene_variant,,ENST00000615845,;MYO15A,downstream_gene_variant,,ENST00000644795,;MYO15A,downstream_gene_variant,,ENST00000647165,;AC087164.1,intron_variant,,ENST00000577847,;AC087164.1,intron_variant,,ENST00000583062,;MYO15A,downstream_gene_variant,,ENST00000433411,;MYO15A,downstream_gene_variant,,ENST00000642418,;MYO15A,downstream_gene_variant,,ENST00000643693,;,regulatory_region_variant,,ENSR00000282660,; C ENSG00000091542 ENST00000399138 Transcript missense_variant 76/2748 71/1185 24/394 K/T aAg/aCg 1 1 ALKBH5 HGNC HGNC:25996 protein_coding YES CCDS42272.1 ENSP00000382091 Q6P6C2 UPI0000200AE2 NM_017758.3 deleterious_low_confidence(0.02) possibly_damaging(0.451) 1/4 hmmpanther:PTHR32074,mobidb-lite MODERATE SNV 2 PASS AAG . . 18184314 ARHGAP23 . GRCh38 chr17 38428547 38428547 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.62A>C p.Gln21Pro p.Q21P ENST00000622683 1/24 100 71 18 23 22 0 ARHGAP23,missense_variant,p.Gln21Pro,ENST00000622683,NM_001199417.1;ARHGAP23,missense_variant,p.Gln21Pro,ENST00000620417,;ARHGAP23,intron_variant,,ENST00000633445,;,regulatory_region_variant,,ENSR00000093753,; C ENSG00000275832 ENST00000622683 Transcript missense_variant,splice_region_variant 130/5964 62/4476 21/1491 Q/P cAg/cCg 1 1 ARHGAP23 HGNC HGNC:29293 protein_coding YES CCDS56027.1 ENSP00000481862 Q9P227 UPI0000F3BE51 NM_001199417.1 deleterious_low_confidence(0.05) benign(0.159) 1/24 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR23175,hmmpanther:PTHR23175:SF5,Superfamily_domains:SSF50156 MODERATE 1 SNV 5 PASS CAG . . 38428547 QRICH2 . GRCh38 chr17 76292979 76292979 + Missense_Mutation SNP C C G rs377489152 7316-938 BS_MTDQBCQK C C c.1250G>C p.Arg417Pro p.R417P ENST00000262765 4/19 91 79 12 37 37 0 QRICH2,missense_variant,p.Arg583Pro,ENST00000636395,;QRICH2,missense_variant,p.Arg417Pro,ENST00000262765,NM_032134.2;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,; G ENSG00000129646 ENST00000262765 Transcript missense_variant 1430/5357 1250/4992 417/1663 R/P cGt/cCt rs377489152,COSM5956805 1 -1 QRICH2 HGNC HGNC:25326 protein_coding YES CCDS32741.1 ENSP00000262765 Q9H0J4 UPI000006FECD NM_032134.2 tolerated(1) benign(0) 4/19 0.0002 0.0008 0,1 MODERATE 1 SNV 1 0,1 PASS ACG . . 4.063e-06 6.538e-05 76292979 TXNDC2 . GRCh38 chr18 9887545 9887545 + Missense_Mutation SNP A A G rs201942026 7316-938 BS_MTDQBCQK A A c.1066A>G p.Lys356Glu p.K356E ENST00000306084 2/2 51 28 10 41 37 3 TXNDC2,missense_variant,p.Lys289Glu,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Lys341Glu,ENST00000611534,;TXNDC2,missense_variant,p.Lys356Glu,ENST00000306084,NM_001098529.1;TXNDC2,3_prime_UTR_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,; G ENSG00000168454 ENST00000306084 Transcript missense_variant 1265/1873 1066/1662 356/553 K/E Aag/Gag rs201942026,COSM6285647,COSM6285646 1 1 TXNDC2 HGNC HGNC:16470 protein_coding YES CCDS42414.1 ENSP00000304908 Q86VQ3 A0A140VJY8 UPI000013EAE7 NM_001098529.1 tolerated(1) benign(0.003) 2/2 mobidb-lite,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF107 0.0012 0.003 0.002 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS GAA . . 3.834e-05 8.597e-05 4.065e-05 0.0003959 3.902e-05 9887545 GATA6 . GRCh38 chr18 22181516 22181516 + Missense_Mutation SNP C C T rs387906818 7316-938 BS_MTDQBCQK C C c.1366C>T p.Arg456Cys p.R456C ENST00000269216 4/7 75 38 37 44 44 0 GATA6,missense_variant,p.Arg456Cys,ENST00000269216,NM_005257.5;GATA6,missense_variant,p.Arg456Cys,ENST00000581694,;RNU6-702P,upstream_gene_variant,,ENST00000364982,;AC091588.1,upstream_gene_variant,,ENST00000578504,; T ENSG00000141448 ENST00000269216 Transcript missense_variant 1643/3770 1366/1788 456/595 R/C Cgc/Tgc rs387906818,CM1110613,COSM4686490 1 1 GATA6 HGNC HGNC:4174 protein_coding YES CCDS11872.1 ENSP00000269216 Q92908 UPI0000201AC8 NM_005257.5 deleterious(0) probably_damaging(1) 4/7 Gene3D:3.30.50.10,Pfam_domain:PF00320,PIRSF_domain:PIRSF003028,PROSITE_patterns:PS00344,PROSITE_profiles:PS50114,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF23,SMART_domains:SM00401,Superfamily_domains:SSF57716,cd00202 pathogenic 0,0,1 22158542,24385578 MODERATE 1 SNV 1 1,1,1 1 PASS GCG . . 22181516 CDH2 . GRCh38 chr18 28176960 28176960 + Splice_Region SNP T T G novel 7316-938 BS_MTDQBCQK T T c.60+3A>C ENST00000269141 78 65 8 45 45 0 CDH2,splice_region_variant,,ENST00000269141,NM_001792.4;,regulatory_region_variant,,ENSR00000101862,; G ENSG00000170558 ENST00000269141 Transcript splice_region_variant,intron_variant 1 -1 CDH2 HGNC HGNC:1759 protein_coding YES CCDS11891.1 ENSP00000269141 P19022 A0A024RC42 UPI000013D7FD NM_001792.4 1/15 LOW 1 SNV 1 PASS GTA . . 28176960 PLIN4 . GRCh38 chr19 4511847 4511847 + Missense_Mutation SNP T T A novel 7316-938 BS_MTDQBCQK T T c.2071A>T p.Met691Leu p.M691L ENST00000301286 3/6 122 102 7 62 55 0 PLIN4,missense_variant,p.Met706Leu,ENST00000633942,;PLIN4,missense_variant,p.Met691Leu,ENST00000301286,NM_001080400.1; A ENSG00000167676 ENST00000301286 Transcript missense_variant 2071/6353 2071/4074 691/1357 M/L Atg/Ttg 1 -1 PLIN4 HGNC HGNC:29393 protein_coding YES CCDS45927.1 ENSP00000301286 Q96Q06 UPI00001D822A NM_001080400.1 deleterious(0) benign(0.005) 3/6 Gene3D:1.10.287.700,hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF31 MODERATE 1 SNV 5 PASS ATG . . 4511847 MUC16 . GRCh38 chr19 8937867 8937867 + Missense_Mutation SNP T T C rs765996093 7316-938 BS_MTDQBCQK T T c.33088A>G p.Thr11030Ala p.T11030A ENST00000397910 5/84 79 59 12 41 39 1 MUC16,missense_variant,p.Thr11030Ala,ENST00000397910,NM_024690.2; C ENSG00000181143 ENST00000397910 Transcript missense_variant 33292/43816 33088/43524 11030/14507 T/A Act/Gct rs765996093,COSM3718544,COSM3718543 1 -1 MUC16 HGNC HGNC:15582 protein_coding YES CCDS54212.1 ENSP00000381008 Q8WXI7 UPI000065CA24 NM_024690.2 benign(0) 5/84 mobidb-lite,hmmpanther:PTHR14672:SF0,hmmpanther:PTHR14672 0,1,1 MODERATE 1 SNV 5 0,1,1 1 PASS GTT . . 3.788e-05 6.18e-05 7.304e-05 8937867 ZNF136 . GRCh38 chr19 12187545 12187545 + Missense_Mutation SNP A A T novel 7316-938 BS_MTDQBCQK A A c.1167A>T p.Glu389Asp p.E389D ENST00000343979 4/4 75 66 9 39 38 0 ZNF136,missense_variant,p.Glu389Asp,ENST00000343979,NM_003437.3,NM_001348014.1,NM_001348013.1;ZNF136,downstream_gene_variant,,ENST00000418338,;ZNF136,downstream_gene_variant,,ENST00000425827,;ZNF136,downstream_gene_variant,,ENST00000439995,;ZNF136,non_coding_transcript_exon_variant,,ENST00000464860,;ZNF136,downstream_gene_variant,,ENST00000476676,; T ENSG00000196646 ENST00000343979 Transcript missense_variant 1307/3643 1167/1623 389/540 E/D gaA/gaT 1 1 ZNF136 HGNC HGNC:12920 protein_coding YES CCDS32916.1 ENSP00000344162 P52737 UPI0000000C7B NM_003437.3,NM_001348014.1,NM_001348013.1 tolerated(0.31) benign(0.007) 4/4 Gene3D:3.30.40.10,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF638,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS AAG . . 12187545 RFX1 . GRCh38 chr19 13963734 13963734 + Missense_Mutation SNP A A C 7316-938 BS_MTDQBCQK A A c.2374T>G p.Trp792Gly p.W792G ENST00000254325 18/21 78 65 8 35 35 0 RFX1,missense_variant,p.Trp792Gly,ENST00000254325,NM_002918.4;DCAF15,downstream_gene_variant,,ENST00000254337,NM_138353.2;DCAF15,downstream_gene_variant,,ENST00000585468,;DCAF15,downstream_gene_variant,,ENST00000587307,;RFX1,non_coding_transcript_exon_variant,,ENST00000588520,;DCAF15,downstream_gene_variant,,ENST00000588523,;DCAF15,downstream_gene_variant,,ENST00000591385,;,regulatory_region_variant,,ENSR00000107466,; C ENSG00000132005 ENST00000254325 Transcript missense_variant 2609/4332 2374/2940 792/979 W/G Tgg/Ggg COSM6381931 1 -1 RFX1 HGNC HGNC:9982 protein_coding YES CCDS12301.1 ENSP00000254325 P22670 UPI000013CE29 NM_002918.4 deleterious(0) possibly_damaging(0.603) 18/21 hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF23 1 MODERATE 1 SNV 1 1 PASS CAC . . 13963734 ZNF43 . GRCh38 chr19 21807843 21807843 + Missense_Mutation SNP G G T rs1363317472 7316-938 BS_MTDQBCQK G G c.2221C>A p.Gln741Lys p.Q741K ENST00000357491 4/4 91 76 9 52 51 0 ZNF43,missense_variant,p.Gln726Lys,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Gln741Lys,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Gln726Lys,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Gln726Lys,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Gln732Lys,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 2355/5249 2221/2457 741/818 Q/K Caa/Aaa rs1363317472,COSM349539 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TGC . . 4.136e-06 3.393e-05 21807843 ZNF43 . GRCh38 chr19 21808336 21808336 + Missense_Mutation SNP C C A 7316-938 BS_MTDQBCQK C C c.1728G>T p.Lys576Asn p.K576N ENST00000357491 4/4 80 61 5 50 49 0 ZNF43,missense_variant,p.Lys561Asn,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Lys576Asn,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Lys561Asn,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Lys561Asn,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Lys567Asn,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; A ENSG00000198521 ENST00000357491 Transcript missense_variant 1862/5249 1728/2457 576/818 K/N aaG/aaT COSM4743822 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 deleterious(0.02) probably_damaging(0.989) 4/4 Gene3D:2.20.25.10,Pfam_domain:PF00096,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS ACT . . 21808336 ZNF257 . GRCh38 chr19 22089223 22089223 + Missense_Mutation SNP A A T 7316-938 BS_MTDQBCQK A A c.1473A>T p.Glu491Asp p.E491D ENST00000594947 4/4 83 67 8 57 56 0 ZNF257,missense_variant,p.Glu491Asp,ENST00000594947,NM_033468.3,NM_001316996.1,NM_001316997.1;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,; T ENSG00000197134 ENST00000594947 Transcript missense_variant 1617/3874 1473/1692 491/563 E/D gaA/gaT COSM4076330 1 1 ZNF257 HGNC HGNC:13498 protein_coding YES CCDS46030.1 ENSP00000470209 Q9Y2Q1 UPI0000E045CA NM_033468.3,NM_001316996.1,NM_001316997.1 deleterious(0.03) benign(0.025) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,PROSITE_patterns:PS00028,Gene3D:2.20.25.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 4 1 PASS AAT . . 22089223 ZNF461 . GRCh38 chr19 36638846 36638846 + Missense_Mutation SNP T T A 7316-938 BS_MTDQBCQK T T c.1499A>T p.Lys500Met p.K500M ENST00000588268 6/6 79 64 7 56 55 0 ZNF461,missense_variant,p.Lys500Met,ENST00000588268,NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1;ZNF461,missense_variant,p.Lys477Met,ENST00000360357,NM_001322827.1,NM_001322826.1,NM_001297623.2;ZNF461,missense_variant,p.Lys500Met,ENST00000614133,;ZNF461,missense_variant,p.Lys231Met,ENST00000618437,;ZNF382,downstream_gene_variant,,ENST00000292928,NM_032825.4;ZNF461,downstream_gene_variant,,ENST00000591370,NM_001322828.1;ZNF461,non_coding_transcript_exon_variant,,ENST00000540605,;ZNF461,upstream_gene_variant,,ENST00000589442,;ZNF461,3_prime_UTR_variant,,ENST00000396893,;ZNF461,non_coding_transcript_exon_variant,,ENST00000590487,;ZNF461,downstream_gene_variant,,ENST00000588844,;ZNF461,downstream_gene_variant,,ENST00000590361,; A ENSG00000197808 ENST00000588268 Transcript missense_variant 1727/2584 1499/1692 500/563 K/M aAg/aTg COSM5956611,COSM5956610 1 -1 ZNF461 HGNC HGNC:21629 protein_coding YES CCDS54257.1 ENSP00000467931 Q8TAF7 UPI00002021CA NM_001322823.1,NM_001322825.1,NM_153257.4,NM_001322821.1 deleterious(0) probably_damaging(0.916) 6/6 Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF277,SMART_domains:SM00355,Superfamily_domains:SSF57667 1,1 MODERATE 1 SNV 1 1,1 PASS CTT . . 36638846 ZNF850 . GRCh38 chr19 36748458 36748458 + Missense_Mutation SNP C C A novel 7316-938 BS_MTDQBCQK C C c.2582G>T p.Arg861Leu p.R861L ENST00000591344 5/5 61 49 9 52 50 0 ZNF850,missense_variant,p.Arg861Leu,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Arg829Leu,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,; A ENSG00000267041 ENST00000591344 Transcript missense_variant 2741/7714 2582/3273 861/1090 R/L cGa/cTa 1 -1 ZNF850 HGNC HGNC:27994 protein_coding YES CCDS59379.1 ENSP00000464976 A8MQ14 UPI00001D815D NM_001193552.1 deleterious(0.02) possibly_damaging(0.462) 5/5 Gene3D:2.30.30.380,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,hmmpanther:PTHR24381:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TCG . . 36748458 ZNF420 . GRCh38 chr19 37127943 37127943 + Missense_Mutation SNP T T A novel 7316-938 BS_MTDQBCQK T T c.952T>A p.Cys318Ser p.C318S ENST00000337995 5/5 62 53 5 42 40 0 ZNF420,missense_variant,p.Cys318Ser,ENST00000337995,NM_144689.3;ZNF420,missense_variant,p.Cys318Ser,ENST00000304239,;AC012309.1,intron_variant,,ENST00000588873,;ZNF420,upstream_gene_variant,,ENST00000585862,;ZNF420,downstream_gene_variant,,ENST00000587029,;ZNF420,downstream_gene_variant,,ENST00000589245,;ZNF420,downstream_gene_variant,,ENST00000590332,;AC012309.2,downstream_gene_variant,,ENST00000587645,;ZNF585A,intron_variant,,ENST00000588723,;ZNF420,upstream_gene_variant,,ENST00000586540,;ZNF585A,intron_variant,,ENST00000587817,;ZNF420,downstream_gene_variant,,ENST00000589461,; A ENSG00000197050 ENST00000337995 Transcript missense_variant 1167/3535 952/2067 318/688 C/S Tgt/Agt 1 1 ZNF420 HGNC HGNC:20649 protein_coding YES CCDS12498.1 ENSP00000338770 Q8TAQ5 UPI000007049F NM_144689.3 tolerated(0.41) benign(0.348) 5/5 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF72,hmmpanther:PTHR24376:SF72,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTG . . 37127943 MAP3K10 . GRCh38 chr19 40192032 40192032 + Translation_Start_Site SNP A A C novel 7316-938 BS_MTDQBCQK A A c.1A>C p.Met1? p.M1? ENST00000253055 1/10 59 42 13 38 37 1 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; C ENSG00000130758 ENST00000253055 Transcript start_lost 289/3436 1/2865 1/954 M/L Atg/Ctg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.456) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS CAT . . 40192032 MAP3K10 . GRCh38 chr19 40192033 40192033 + Translation_Start_Site SNP T T G novel 7316-938 BS_MTDQBCQK T T c.2T>G p.Met1? p.M1? ENST00000253055 1/10 60 41 14 38 38 0 MAP3K10,start_lost,p.Met1?,ENST00000253055,NM_002446.3;MAP3K10,upstream_gene_variant,,ENST00000593906,;,regulatory_region_variant,,ENSR00000109486,; G ENSG00000130758 ENST00000253055 Transcript start_lost 290/3436 2/2865 1/954 M/R aTg/aGg 1 1 MAP3K10 HGNC HGNC:6849 protein_coding YES CCDS12549.1 ENSP00000253055 Q02779 UPI000013CDAC NM_002446.3 deleterious_low_confidence(0) possibly_damaging(0.88) 1/10 PIRSF_domain:PIRSF000556,hmmpanther:PTHR43997,hmmpanther:PTHR43997:SF5 HIGH 1 SNV 1 PASS ATG . . 40192033 PRX . GRCh38 chr19 40396620 40396620 + Missense_Mutation SNP G G A 7316-938 BS_MTDQBCQK G G c.1732C>T p.Pro578Ser p.P578S ENST00000324001 7/7 93 79 5 39 38 0 PRX,missense_variant,p.Pro578Ser,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2; A ENSG00000105227 ENST00000324001 Transcript missense_variant 2003/4855 1732/4386 578/1461 P/S Cca/Tca COSM6004215 1 -1 PRX HGNC HGNC:13797 protein_coding YES CCDS33028.1 ENSP00000326018 Q9BXM0 UPI000044CC1A NM_181882.2 tolerated(0.28) benign(0.09) 7/7 hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF42 1 MODERATE 1 SNV 1 1 1 PASS GGC . . 40396620 BCAM . GRCh38 chr19 44809176 44809176 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.52T>G p.Leu18Val p.L18V ENST00000270233 1/15 76 61 13 43 42 0 BCAM,missense_variant,p.Leu18Val,ENST00000611077,NM_001013257.2;BCAM,missense_variant,p.Leu18Val,ENST00000270233,NM_005581.4;BCAM,missense_variant,p.Leu18Val,ENST00000591520,;BCAM,non_coding_transcript_exon_variant,,ENST00000588303,;BCAM,non_coding_transcript_exon_variant,,ENST00000588603,;BCAM,upstream_gene_variant,,ENST00000590108,;BCAM,upstream_gene_variant,,ENST00000590196,;,regulatory_region_variant,,ENSR00000288654,; G ENSG00000187244 ENST00000270233 Transcript missense_variant 118/2453 52/1887 18/628 L/V Ttg/Gtg 1 1 BCAM HGNC HGNC:6722 protein_coding YES CCDS12644.1 ENSP00000270233 P50895 UPI0000190806 NM_005581.4 tolerated(0.49) benign(0) 1/15 Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF15 MODERATE 1 SNV 1 1 PASS GTT . . 44809176 LMTK3 . GRCh38 chr19 48494029 48494029 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.3844T>G p.Trp1282Gly p.W1282G ENST00000270238 13/16 91 73 12 43 41 1 LMTK3,missense_variant,p.Trp1253Gly,ENST00000600059,;LMTK3,missense_variant,p.Trp1282Gly,ENST00000270238,NM_001080434.1;,regulatory_region_variant,,ENSR00000110714,; C ENSG00000142235 ENST00000270238 Transcript missense_variant 3844/4972 3844/4470 1282/1489 W/G Tgg/Ggg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) benign(0.04) 13/16 mobidb-lite,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48494029 ZNF534 . GRCh38 chr19 52438970 52438970 + Missense_Mutation SNP C C A rs370491316 7316-938 BS_MTDQBCQK C C c.1549C>A p.Arg517Ser p.R517S ENST00000332323 4/4 80 66 13 42 42 0 ZNF534,missense_variant,p.Arg517Ser,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Arg504Ser,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1; A ENSG00000198633 ENST00000332323 Transcript missense_variant 1610/2086 1549/2025 517/674 R/S Cgt/Agt rs370491316,COSM4468543 1 1 ZNF534 HGNC HGNC:26337 protein_coding YES CCDS46165.1 ENSP00000327538 Q76KX8 UPI0000351984 NM_001143939.1 tolerated(1) benign(0.005) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF187,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS CCG . . 5.46e-05 7.317e-05 0.000175 0.0001361 0.0006153 3.67e-05 52438970 LILRB2 . GRCh38 chr19 54276853 54276855 + In_Frame_Del DEL GAG GAG - rs780260904 7316-938 BS_MTDQBCQK GAG GAG c.1435_1437del p.Leu479del p.L479del ENST00000391749 10/14 67 53 5 45 36 0 LILRB2,inframe_deletion,p.Leu478del,ENST00000391748,NM_001278403.2;LILRB2,inframe_deletion,p.Leu363del,ENST00000434421,NM_001278404.2;LILRB2,inframe_deletion,p.Leu478del,ENST00000314446,NM_001080978.3;LILRB2,inframe_deletion,p.Leu479del,ENST00000391749,NM_005874.4;LILRB2,inframe_deletion,p.Leu479del,ENST00000391746,NM_001278406.2,NM_001278405.2;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,inframe_deletion,p.Leu155del,ENST00000455108,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,; - ENSG00000131042 ENST00000391749 Transcript inframe_deletion 1707-1709/2286 1435-1437/1797 479/598 L/- CTC/- rs780260904,COSM1724570 1 -1 LILRB2 HGNC HGNC:6606 protein_coding YES CCDS12886.1 ENSP00000375629 Q8N423 UPI00034F23A2 NM_005874.4 10/14 Gene3D:1.20.5.100,Transmembrane_helices:TMhelix,Low_complexity_(Seg):seg 0,1 MODERATE 1 deletion 1 0,1 PASS AAGAGG . . 0.0005126 0.0006476 0.0004436 0.0003778 0.0002338 0.0003677 0.0003981 0.001492 54276852 LILRB4 . GRCh38 chr19 54664454 54664454 + Missense_Mutation SNP C C G rs768951096 7316-938 BS_MTDQBCQK C C c.624C>G p.His208Gln p.H208Q ENST00000391736 6/14 92 80 12 37 36 1 LILRB4,missense_variant,p.His208Gln,ENST00000391736,NM_001278426.3;LILRB4,missense_variant,p.His208Gln,ENST00000430952,NM_001278427.3;LILRB4,missense_variant,p.His208Gln,ENST00000391733,NM_001278429.3,NM_001278428.3;LILRB4,missense_variant,p.His208Gln,ENST00000391734,;LILRB4,missense_variant,p.His208Gln,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000270452,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,3_prime_UTR_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000470943,; G ENSG00000186818 ENST00000391736 Transcript missense_variant 939/4002 624/1347 208/448 H/Q caC/caG rs768951096,COSM5507343 1 1 LILRB4 HGNC HGNC:6608 protein_coding YES CCDS12902.1 ENSP00000375616 Q8NHJ6 UPI0000034C02 NM_001278426.3 tolerated(0.47) benign(0.007) 6/14 Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF30,Superfamily_domains:SSF48726 0,1 MODERATE 1 SNV 5 0,1 PASS ACC . . 54664454 IL11 . GRCh38 chr19 55366105 55366105 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.502T>G p.Trp168Gly p.W168G ENST00000264563 5/5 65 53 11 39 37 0 IL11,missense_variant,p.Trp168Gly,ENST00000264563,NM_000641.3;IL11,missense_variant,p.Trp168Gly,ENST00000585513,;IL11,missense_variant,p.Trp89Gly,ENST00000590625,NM_001267718.1;FAM71E2,upstream_gene_variant,,ENST00000424985,NM_001145402.1;IL11,downstream_gene_variant,,ENST00000587093,;FAM71E2,upstream_gene_variant,,ENST00000585734,;,regulatory_region_variant,,ENSR00000111641,; C ENSG00000095752 ENST00000264563 Transcript missense_variant 565/2281 502/600 168/199 W/G Tgg/Ggg 1 -1 IL11 HGNC HGNC:5966 protein_coding YES CCDS12923.1 ENSP00000264563 P20809 A8K3F7 UPI000000D8E5 NM_000641.3 deleterious(0) benign(0.31) 5/5 Gene3D:1.20.1250.10,Pfam_domain:PF07400,hmmpanther:PTHR16922,Superfamily_domains:SSF47266 MODERATE 1 SNV 1 1 PASS CAG . . 55366105 ZNF814 . GRCh38 chr19 57873561 57873561 + Missense_Mutation SNP C C A 7316-938 BS_MTDQBCQK C C c.1829G>T p.Gly610Val p.G610V ENST00000435989 3/3 72 64 7 32 32 0 ZNF814,missense_variant,p.Gly610Val,ENST00000435989,NM_001144989.1;ZNF814,intron_variant,,ENST00000595048,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000614383,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;AC010326.4,downstream_gene_variant,,ENST00000604665,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,upstream_gene_variant,,ENST00000594159,;AC010326.2,downstream_gene_variant,,ENST00000602124,;AC010326.4,downstream_gene_variant,,ENST00000603829,; A ENSG00000204514 ENST00000435989 Transcript missense_variant 2064/3146 1829/2568 610/855 G/V gGg/gTg COSM6833390 1 -1 ZNF814 HGNC HGNC:33258 protein_coding YES CCDS46212.1 ENSP00000410545 B7Z6K7 UPI0001662BAD NM_001144989.1 deleterious(0) probably_damaging(0.978) 3/3 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF619,hmmpanther:PTHR24377:SF619,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,PIRSF_domain:PIRSF013212,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 1 MODERATE 1 SNV 2 1 PASS CCC . . 57873561 ZNF544 . GRCh38 chr19 58261773 58261773 + Missense_Mutation SNP T T A novel 7316-938 BS_MTDQBCQK T T c.1167T>A p.Phe389Leu p.F389L ENST00000269829 4/4 103 88 6 42 40 0 ZNF544,missense_variant,p.Phe389Leu,ENST00000269829,;ZNF544,missense_variant,p.Phe361Leu,ENST00000600220,NM_001320773.1,NM_001320771.1;ZNF544,missense_variant,p.Phe389Leu,ENST00000596652,NM_001320769.1,NM_001320787.1,NM_001320774.1,NM_014480.3,NM_001320767.1,NM_001320777.1,NM_001320786.1,NM_001320785.1;ZNF544,missense_variant,p.Phe361Leu,ENST00000600044,NM_001320770.1;ZNF544,missense_variant,p.Phe247Leu,ENST00000599953,;ZNF544,3_prime_UTR_variant,,ENST00000599227,NM_001320791.1,NM_001320792.1,NM_001320788.1;ZNF544,3_prime_UTR_variant,,ENST00000596825,NM_001320789.1,NM_001320781.1;ZNF544,intron_variant,,ENST00000595981,;ZNF544,intron_variant,,ENST00000596929,NM_001320782.1;ZNF544,downstream_gene_variant,,ENST00000594384,;AC020915.3,intron_variant,,ENST00000597230,;AC020915.2,upstream_gene_variant,,ENST00000595301,;ZNF544,downstream_gene_variant,,ENST00000598880,;ZNF544,3_prime_UTR_variant,,ENST00000596677,;AC020915.5,intron_variant,,ENST00000637233,;AC020915.5,intron_variant,,ENST00000637310,; A ENSG00000198131 ENST00000269829 Transcript missense_variant 1228/3547 1167/2148 389/715 F/L ttT/ttA 1 1 ZNF544 HGNC HGNC:16759 protein_coding YES CCDS12973.1 ENSP00000269829 Q6NX49 UPI000013D856 deleterious(0.01) probably_damaging(0.933) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 1 PASS TTA . . 58261773 ZNF544 . GRCh38 chr19 58262038 58262038 + Missense_Mutation SNP G G C rs1201369364 7316-938 BS_MTDQBCQK G G c.1432G>C p.Glu478Gln p.E478Q ENST00000269829 4/4 64 54 6 35 33 1 ZNF544,missense_variant,p.Glu478Gln,ENST00000269829,;ZNF544,missense_variant,p.Glu450Gln,ENST00000600220,NM_001320773.1,NM_001320771.1;ZNF544,missense_variant,p.Glu478Gln,ENST00000596652,NM_001320769.1,NM_001320787.1,NM_001320774.1,NM_014480.3,NM_001320767.1,NM_001320777.1,NM_001320786.1,NM_001320785.1;ZNF544,missense_variant,p.Glu450Gln,ENST00000600044,NM_001320770.1;ZNF544,missense_variant,p.Glu336Gln,ENST00000599953,;ZNF544,3_prime_UTR_variant,,ENST00000599227,NM_001320791.1,NM_001320792.1,NM_001320788.1;ZNF544,3_prime_UTR_variant,,ENST00000596825,NM_001320789.1,NM_001320781.1;ZNF544,intron_variant,,ENST00000595981,;ZNF544,intron_variant,,ENST00000596929,NM_001320782.1;ZNF544,downstream_gene_variant,,ENST00000594384,;AC020915.3,intron_variant,,ENST00000597230,;AC020915.2,upstream_gene_variant,,ENST00000595301,;ZNF544,downstream_gene_variant,,ENST00000598880,;ZNF544,3_prime_UTR_variant,,ENST00000596677,;AC020915.5,intron_variant,,ENST00000637233,;AC020915.5,intron_variant,,ENST00000637310,; C ENSG00000198131 ENST00000269829 Transcript missense_variant 1493/3547 1432/2148 478/715 E/Q Gag/Cag rs1201369364,COSM5956413 1 1 ZNF544 HGNC HGNC:16759 protein_coding YES CCDS12973.1 ENSP00000269829 Q6NX49 UPI000013D856 tolerated(0.32) benign(0) 4/4 PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377:SF648,hmmpanther:PTHR24377,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:2.40.155.10,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 1 0,1 PASS TGA . . 58262038 ZCCHC3 . GRCh38 chr20 297781 297781 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.195A>C p.Glu65Asp p.E65D ENST00000500893 1/1 95 80 11 46 44 0 ZCCHC3,missense_variant,p.Glu65Asp,ENST00000500893,NM_033089.6;,regulatory_region_variant,,ENSR00000133395,; C ENSG00000247315 ENST00000500893 Transcript missense_variant 814/3354 195/1212 65/403 E/D gaA/gaC 1 1 ZCCHC3 HGNC HGNC:16230 protein_coding YES CCDS42844.1 ENSP00000484056 Q9NUD5 UPI0000072273 NM_033089.6 tolerated_low_confidence(0.1) benign(0) 1/1 hmmpanther:PTHR22639,hmmpanther:PTHR22639:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV PASS AAA . . 297781 ZNF343 . GRCh38 chr20 2483386 2483386 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.1698A>C p.Glu566Asp p.E566D ENST00000612935 8/8 90 68 13 35 33 0 ZNF343,missense_variant,p.Glu566Asp,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Glu525Asp,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Glu435Asp,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; G ENSG00000088876 ENST00000612935 Transcript missense_variant 2112/3675 1698/1923 566/640 E/D gaA/gaC 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 tolerated(0.11) benign(0.191) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS ATT . . 2483386 ZNF343 . GRCh38 chr20 2483738 2483738 + Missense_Mutation SNP G G T rs778567181 7316-938 BS_MTDQBCQK G G c.1346C>A p.Pro449His p.P449H ENST00000612935 8/8 100 80 14 51 50 0 ZNF343,missense_variant,p.Pro449His,ENST00000612935,NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1;ZNF343,missense_variant,p.Pro408His,ENST00000278772,NM_001321805.1,NM_024325.5,NM_001282496.1,NM_001282495.1,NM_001321800.1;ZNF343,missense_variant,p.Pro318His,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;AL049650.1,intron_variant,,ENST00000461548,; T ENSG00000088876 ENST00000612935 Transcript missense_variant 1760/3675 1346/1923 449/640 P/H cCt/cAt rs778567181 1 -1 ZNF343 HGNC HGNC:16017 protein_coding YES CCDS74693.1 ENSP00000482819 A0A087WZQ2 UPI00002068B7 NM_001321803.1,NM_001321802.1,NM_001321801.1,NM_001282497.1 deleterious(0) probably_damaging(0.926) 8/8 PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,Gene3D:2.40.155.10,Superfamily_domains:SSF57667 MODERATE 1 SNV 5 PASS AGG . . 2483738 CCM2L . GRCh38 chr20 32019090 32019090 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.614T>G p.Met205Arg p.M205R ENST00000262659 5/9 134 114 9 34 34 0 CCM2L,missense_variant,p.Met205Arg,ENST00000262659,NM_080625.3;CCM2L,upstream_gene_variant,,ENST00000452892,;,regulatory_region_variant,,ENSR00000136079,; G ENSG00000101331 ENST00000262659 Transcript missense_variant 619/2523 614/1302 205/433 M/R aTg/aGg 1 1 CCM2L HGNC HGNC:16153 protein_coding YES CCDS13195.1 ENSP00000262659 Q9NUG4 UPI0000070921 NM_080625.3 tolerated_low_confidence(0.37) benign(0) 5/9 Gene3D:2.30.29.30,hmmpanther:PTHR21642,hmmpanther:PTHR21642:SF2,cd13166 MODERATE 1 SNV 1 PASS ATG . . 32019090 PRPF6 . GRCh38 chr20 63981295 63981295 + Missense_Mutation SNP A A C novel 7316-938 BS_MTDQBCQK A A c.50A>C p.Tyr17Ser p.Y17S ENST00000266079 1/21 146 133 10 33 31 0 PRPF6,missense_variant,p.Tyr17Ser,ENST00000266079,NM_012469.3;SAMD10,upstream_gene_variant,,ENST00000369886,NM_080621.4;SAMD10,upstream_gene_variant,,ENST00000450107,;SAMD10,upstream_gene_variant,,ENST00000478694,;SAMD10,upstream_gene_variant,,ENST00000498830,;,regulatory_region_variant,,ENSR00000139998,; C ENSG00000101161 ENST00000266079 Transcript missense_variant 161/3044 50/2826 17/941 Y/S tAc/tCc 1 1 PRPF6 HGNC HGNC:15860 protein_coding YES CCDS13550.1 ENSP00000266079 O94906 UPI0000132356 NM_012469.3 deleterious(0) probably_damaging(1) 1/21 Pfam_domain:PF06424,hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF1,mobidb-lite MODERATE 1 SNV 1 1 PASS TAC . . 63981295 FAM118A . GRCh38 chr22 45328066 45328066 + Splice_Region SNP A A G rs74676649 7316-938 BS_MTDQBCQK A A c.522+3A>G ENST00000216214 47 28 17 20 19 1 FAM118A,splice_region_variant,,ENST00000216214,NM_001104595.1;FAM118A,splice_region_variant,,ENST00000405673,;FAM118A,splice_region_variant,,ENST00000441876,NM_017911.2;FAM118A,downstream_gene_variant,,ENST00000427777,;FAM118A,upstream_gene_variant,,ENST00000459849,;FAM118A,upstream_gene_variant,,ENST00000476478,;FAM118A,upstream_gene_variant,,ENST00000476754,;FAM118A,non_coding_transcript_exon_variant,,ENST00000477714,;FAM118A,upstream_gene_variant,,ENST00000487732,;,regulatory_region_variant,,ENSR00000147183,; G ENSG00000100376 ENST00000216214 Transcript splice_region_variant,intron_variant rs74676649,COSM5460924 1 1 FAM118A HGNC HGNC:1313 protein_coding YES CCDS14065.1 ENSP00000216214 Q9NWS6 A0A024R4V3 UPI000022B897 NM_001104595.1 5/9 0,1 LOW 1 SNV 2 0,1 PASS TAT . . 0.2204 0.7633 0.1865 0.08251 0.3431 0.2931 0.1702 0.2129 0.1368 45328066 GTPBP6 . GRCh38 chrX 318651 318651 + Missense_Mutation SNP T T G novel 7316-938 BS_MTDQBCQK T T c.137A>C p.Asn46Thr p.N46T ENST00000326153 1/10 80 64 14 34 34 0 GTPBP6,missense_variant,p.Asn46Thr,ENST00000326153,NM_012227.3;LINC00685,upstream_gene_variant,,ENST00000391707,;,regulatory_region_variant,,ENSR00000243689,; G ENSG00000178605 ENST00000326153 Transcript missense_variant 169/1907 137/1551 46/516 N/T aAt/aCt 1 -1 GTPBP6 HGNC HGNC:30189 protein_coding YES CCDS75943.1 ENSP00000316598 O43824 UPI00043B9035 NM_012227.3 tolerated(0.6) unknown(0) 1/10 mobidb-lite MODERATE 1 SNV 1 PASS ATT . . 318651 FAM47C . GRCh38 chrX 37009618 37009618 + Missense_Mutation SNP T T G rs1223197492 7316-938 BS_MTDQBCQK T T c.1208T>G p.Phe403Cys p.F403C ENST00000358047 1/1 33 24 5 16 14 0 FAM47C,missense_variant,p.Phe403Cys,ENST00000358047,NM_001013736.2;,regulatory_region_variant,,ENSR00000340352,; G ENSG00000198173 ENST00000358047 Transcript missense_variant 1222/3270 1208/3108 403/1035 F/C tTc/tGc rs1223197492,COSM5956264,COSM5956263 1 1 FAM47C HGNC HGNC:25301 protein_coding YES CCDS35227.1 ENSP00000367913 Q5HY64 UPI000041ABF8 NM_001013736.2 tolerated_low_confidence(0.19) benign(0.003) 1/1 mobidb-lite,hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642 0,1,1 MODERATE 1 SNV 0,1,1 1 PASS TTC . . 37009618 PRAMEF33 . GRCh38 chr1 13308750 13308750 + Missense_Mutation SNP C C T rs1372172187 7316-2723 BS_RX561Y2K C C c.1288C>T p.Leu430Phe p.L430F ENST00000437300 4/4 42 34 7 26 26 0 PRAMEF33,missense_variant,p.Leu430Phe,ENST00000437300,NM_001291381.1; T ENSG00000237700 ENST00000437300 Transcript missense_variant 1361/1518 1288/1425 430/474 L/F Ctc/Ttc rs1372172187 1 1 PRAMEF33 HGNC HGNC:49193 protein_coding YES ENSP00000492439 A0A0G2JMD5 UPI000442CEFE NM_001291381.1 tolerated(0.4) benign(0.035) 4/4 Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF28 MODERATE 1 SNV 1 PASS CCT . . 13308750 CRYBG2 . GRCh38 chr1 26345228 26345228 + Missense_Mutation SNP C C T rs201245727 7316-2723 BS_RX561Y2K C C c.2402G>A p.Arg801Gln p.R801Q ENST00000475866 4/22 70 49 10 36 33 1 CRYBG2,missense_variant,p.Arg801Gln,ENST00000475866,;CRYBG2,missense_variant,p.Arg477Gln,ENST00000308182,NM_001039775.3;CRYBG2,missense_variant,p.Arg477Gln,ENST00000527815,;CRYBG2,downstream_gene_variant,,ENST00000640960,;CRYBG2,intron_variant,,ENST00000374207,; T ENSG00000176092 ENST00000475866 Transcript missense_variant 2433/6259 2402/5958 801/1985 R/Q cGg/cAg rs201245727 1 -1 CRYBG2 HGNC HGNC:17295 protein_coding YES ENSP00000428746 E7ET48 UPI000D18D1C8 tolerated_low_confidence(1) benign(0) 4/22 hmmpanther:PTHR11818:SF50,hmmpanther:PTHR11818,mobidb-lite MODERATE 1 SNV 4 PASS CCG . . 0.001574 0.00289 0.001905 0.001118 0.0005325 0.0004335 0.001935 0.002371 0.0007809 26345228 KLF18 . GRCh38 chr1 44139273 44139273 + Missense_Mutation SNP G G T rs1404699359 7316-2723 BS_RX561Y2K G G c.2359C>A p.Pro787Thr p.P787T ENST00000634670 1/2 49 36 6 31 30 0 KLF18,missense_variant,p.Pro787Thr,ENST00000634670,NM_001358438.1;KLF17,downstream_gene_variant,,ENST00000372299,NM_173484.3; T ENSG00000283039 ENST00000634670 Transcript missense_variant 2359/3159 2359/3159 787/1052 P/T Ccc/Acc rs1404699359 1 -1 KLF18 HGNC HGNC:51793 protein_coding YES ENSP00000489024 A0A0U1RQI7 UPI0005D01F2D NM_001358438.1 tolerated(0.4) benign(0) 1/2 Gene3D:2.150.10.10,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF21 MODERATE SNV 5 PASS GGG . . 44139273 ATPAF1 . GRCh38 chr1 46668153 46668153 + Missense_Mutation SNP T T G novel 7316-2723 BS_RX561Y2K T T c.239A>C p.Glu80Ala p.E80A ENST00000576409 1/9 46 32 9 25 24 0 ATPAF1,missense_variant,p.Glu80Ala,ENST00000576409,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Glu57Ala,ENST00000574428,;ATPAF1,missense_variant,p.Glu80Ala,ENST00000329231,NM_001042546.2;TEX38,upstream_gene_variant,,ENST00000334122,NM_001145474.3;TEX38,upstream_gene_variant,,ENST00000415500,NM_001300864.1;ATPAF1,upstream_gene_variant,,ENST00000526821,;ATPAF1,upstream_gene_variant,,ENST00000532925,NM_001243728.1;ATPAF1,upstream_gene_variant,,ENST00000542495,NM_001256418.1;TEX38,upstream_gene_variant,,ENST00000564071,;TEX38,upstream_gene_variant,,ENST00000564373,NM_001300863.1;ATPAF1,intron_variant,,ENST00000525633,;ATPAF1,missense_variant,p.Glu10Ala,ENST00000487193,;ATPAF1,upstream_gene_variant,,ENST00000460928,;ATPAF1,upstream_gene_variant,,ENST00000474020,;ATPAF1,upstream_gene_variant,,ENST00000529214,;,regulatory_region_variant,,ENSR00000006005,;NENFP1,upstream_gene_variant,,ENST00000419476,; G ENSG00000123472 ENST00000576409 Transcript missense_variant 302/4158 239/1056 80/351 E/A gAg/gCg 1 -1 ATPAF1 HGNC HGNC:18803 protein_coding YES CCDS541.2 ENSP00000460964 I3L448 UPI000222BB4E tolerated_low_confidence(0.85) benign(0.001) 1/9 hmmpanther:PTHR13126 MODERATE 1 SNV 1 1 PASS CTC . . 46668153 TCHH . GRCh38 chr1 152108268 152108268 + Missense_Mutation SNP G G T rs530417912 7316-2723 BS_RX561Y2K G G c.4949C>A p.Pro1650Gln p.P1650Q ENST00000614923 3/3 69 55 11 40 38 1 TCHH,missense_variant,p.Pro1650Gln,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Pro1650Gln,ENST00000368804,;,regulatory_region_variant,,ENSR00000013721,;,regulatory_region_variant,,ENSR00000254425,; T ENSG00000159450 ENST00000614923 Transcript missense_variant 5044/6995 4949/5832 1650/1943 P/Q cCg/cAg rs530417912,COSM4221222 1 -1 TCHH HGNC HGNC:11791 protein_coding YES CCDS41396.1 ENSP00000480484 Q07283 UPI0000458A5E NM_007113.3 tolerated_low_confidence(0.54) benign(0) 3/3 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR34855,hmmpanther:PTHR34855 0.0006 0.002 0.001 0,1 MODERATE 1 SNV 5 0,1 1 PASS CGG . . 1.355e-05 0.0001116 152108268 FLG2 . GRCh38 chr1 152353047 152353047 + Missense_Mutation SNP G G C rs1255250864 7316-2723 BS_RX561Y2K G G c.4739C>G p.Thr1580Ser p.T1580S ENST00000388718 3/3 80 63 14 37 36 1 FLG2,missense_variant,p.Thr1580Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,; C ENSG00000143520 ENST00000388718 Transcript missense_variant 4812/9124 4739/7176 1580/2391 T/S aCt/aGt rs1255250864,COSM1295098 1 -1 FLG2 HGNC HGNC:33276 protein_coding YES CCDS30861.1 ENSP00000373370 Q5D862 UPI00004E1DE5 NM_001014342.2 tolerated(1) benign(0) 3/3 mobidb-lite,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24 0,1 MODERATE SNV 5 0,1 1 PASS AGT . . 152353047 IGFN1 . GRCh38 chr1 201210801 201210801 + Missense_Mutation SNP A A G rs1383532346 7316-2723 BS_RX561Y2K A A c.5908A>G p.Lys1970Glu p.K1970E ENST00000335211 12/24 37 25 6 24 23 0 IGFN1,missense_variant,p.Lys1970Glu,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;IGFN1,upstream_gene_variant,,ENST00000473483,; G ENSG00000163395 ENST00000335211 Transcript missense_variant 6038/11810 5908/11127 1970/3708 K/E Aag/Gag rs1383532346,COSM5956560 1 1 IGFN1 HGNC HGNC:24607 protein_coding YES CCDS53455.1 ENSP00000334714 Q86VF2 UPI0001B300F4 NM_001164586.1 tolerated(1) benign(0.138) 12/24 mobidb-lite 0,1 MODERATE 1 SNV 5 0,1 PASS TAA . . 2.933e-05 8.499e-05 1.789e-05 4.418e-05 201210801 OR2T34 . GRCh38 chr1 248574433 248574433 + Missense_Mutation SNP G G A rs139616012 7316-2723 BS_RX561Y2K G G c.325C>T p.His109Tyr p.H109Y ENST00000328782 1/1 67 58 9 41 40 0 OR2T34,missense_variant,p.His109Tyr,ENST00000328782,NM_001001821.1; A ENSG00000183310 ENST00000328782 Transcript missense_variant 325/957 325/957 109/318 H/Y Cac/Tac rs139616012,COSM425943 1 -1 OR2T34 HGNC HGNC:31256 protein_coding YES CCDS31120.1 ENSP00000330904 Q8NGX1 UPI0000061ED4 NM_001001821.1 tolerated(1) benign(0) 1/1 Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix,cd15421 0,1 MODERATE 1 SNV 0,1 PASS TGG . . 0.03526 0.1049 0.04922 0.0143 0.0946 0.01236 0.02201 0.03482 0.03188 248574433 NRXN1 . GRCh38 chr2 51027791 51027791 + Missense_Mutation SNP T T G novel 7316-2723 BS_RX561Y2K T T c.483A>C p.Glu161Asp p.E161D ENST00000404971 2/24 64 54 8 35 35 0 NRXN1,missense_variant,p.Glu161Asp,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Glu161Asp,ENST00000625672,;NRXN1,missense_variant,p.Glu161Asp,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Glu161Asp,ENST00000401669,;NRXN1,missense_variant,p.Glu161Asp,ENST00000405472,;NRXN1,missense_variant,p.Glu161Asp,ENST00000405581,NM_001330079.1,NM_001330081.1;NRXN1,missense_variant,p.Glu161Asp,ENST00000630543,;NRXN1,missense_variant,p.Glu161Asp,ENST00000637511,;NRXN1,missense_variant,p.Glu161Asp,ENST00000628515,;NRXN1,missense_variant,p.Glu14Asp,ENST00000636066,;NRXN1,missense_variant,p.Glu161Asp,ENST00000626899,;NRXN1,missense_variant,p.Glu3Asp,ENST00000496792,;NRXN1,upstream_gene_variant,,ENST00000627198,;AC007402.1,upstream_gene_variant,,ENST00000440698,;NRXN1,downstream_gene_variant,,ENST00000635126,;NRXN1,downstream_gene_variant,,ENST00000635310,;NRXN1,downstream_gene_variant,,ENST00000636599,;NRXN1,downstream_gene_variant,,ENST00000637006,;NRXN1,upstream_gene_variant,,ENST00000637679,;NRXN1,downstream_gene_variant,,ENST00000638060,;,regulatory_region_variant,,ENSR00000290894,; G ENSG00000179915 ENST00000404971 Transcript missense_variant 1823/7578 483/4644 161/1547 E/D gaA/gaC 1 -1 NRXN1 HGNC HGNC:8008 protein_coding YES CCDS46282.1 ENSP00000385142 Q9ULB1 UPI00015A218A NM_001135659.1 tolerated(1) benign(0.014) 2/24 PROSITE_profiles:PS50025,cd00110,hmmpanther:PTHR44287,hmmpanther:PTHR44287:SF2,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899 MODERATE 1 SNV 1 1 PASS GTT . . 51027791 SPEG . GRCh38 chr2 219483374 219483374 + Missense_Mutation SNP A A C novel 7316-2723 BS_RX561Y2K A A c.5911A>C p.Met1971Leu p.M1971L ENST00000312358 30/41 63 52 9 25 25 0 SPEG,missense_variant,p.Met1971Leu,ENST00000312358,NM_005876.4;AC053503.1,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;,regulatory_region_variant,,ENSR00000130557,; C ENSG00000072195 ENST00000312358 Transcript missense_variant 6043/10782 5911/9804 1971/3267 M/L Atg/Ctg 1 1 SPEG HGNC HGNC:16901 protein_coding YES CCDS42824.1 ENSP00000311684 Q15772 UPI000066D99E NM_005876.4 tolerated(0.18) benign(0) 30/41 Gene3D:1.10.510.10,hmmpanther:PTHR45065,mobidb-lite MODERATE SNV 5 1 PASS CAT . . 219483374 GAL3ST2 . GRCh38 chr2 241803771 241803771 + Missense_Mutation SNP A A C novel 7316-2723 BS_RX561Y2K A A c.802A>C p.Thr268Pro p.T268P ENST00000192314 4/4 65 56 8 34 33 1 GAL3ST2,missense_variant,p.Thr268Pro,ENST00000192314,NM_022134.2;AC131097.3,downstream_gene_variant,,ENST00000413820,;AC131097.1,upstream_gene_variant,,ENST00000437438,;,regulatory_region_variant,,ENSR00000133335,; C ENSG00000154252 ENST00000192314 Transcript missense_variant 933/1370 802/1197 268/398 T/P Acc/Ccc 1 1 GAL3ST2 HGNC HGNC:24869 protein_coding YES CCDS33427.1 ENSP00000192314 Q9H3Q3 UPI000049DF44 NM_022134.2 tolerated(0.09) possibly_damaging(0.828) 4/4 hmmpanther:PTHR14647:SF55,hmmpanther:PTHR14647,Gene3D:3.40.50.300,Pfam_domain:PF06990 MODERATE 1 SNV 1 PASS GAC . . 241803771 RBM15B . GRCh38 chr3 51391480 51391480 + Missense_Mutation SNP A A C novel 7316-2723 BS_RX561Y2K A A c.81A>C p.Glu27Asp p.E27D ENST00000563281 1/1 68 59 9 25 24 0 RBM15B,missense_variant,p.Glu27Asp,ENST00000563281,NM_013286.4;DCAF1,downstream_gene_variant,,ENST00000423656,NM_014703.2;DCAF1,downstream_gene_variant,,ENST00000504652,NM_001171904.1;MANF,downstream_gene_variant,,ENST00000528157,NM_006010.5;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;,regulatory_region_variant,,ENSR00000152421,; C ENSG00000259956 ENST00000563281 Transcript missense_variant 213/6641 81/2673 27/890 E/D gaA/gaC 1 1 RBM15B HGNC HGNC:24303 protein_coding YES CCDS33764.1 ENSP00000454545 Q8NDT2 UPI0000160BDE NM_013286.4 tolerated_low_confidence(0.55) benign(0.007) 1/1 Gene3D:3.30.70.330,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF40,mobidb-lite,Low_complexity_(Seg):seg MODERATE SNV PASS AAC . . 51391480 CIP2A . GRCh38 chr3 108557418 108557418 + Splice_Region DEL A A - rs745591488 7316-2723 BS_RX561Y2K A A c.2014-4del ENST00000295746 41 32 5 36 32 0 CIP2A,splice_region_variant,,ENST00000619684,;CIP2A,splice_region_variant,,ENST00000295746,NM_020890.2;CIP2A,splice_region_variant,,ENST00000491772,;CIP2A,downstream_gene_variant,,ENST00000487834,;CIP2A,splice_region_variant,,ENST00000481530,; - ENSG00000163507 ENST00000295746 Transcript splice_region_variant,intron_variant rs745591488,TMP_ESP_3_108276265_108276266,COSM1735890 1 -1 CIP2A HGNC HGNC:29302 protein_coding YES CCDS33812.1 ENSP00000295746 Q8TCG1 UPI0000209EFF NM_020890.2 16/20 0.06127 0.06438 0,0,1 LOW 1 deletion 1 0,0,1 PASS TCAA . . 0.113 0.06532 0.1439 0.1872 0.1052 0.06866 0.1039 0.1233 0.1797 108557417 MUC4 . GRCh38 chr3 195780380 195780380 + Missense_Mutation SNP G G T rs879693844 7316-2723 BS_RX561Y2K G G c.11200C>A p.Pro3734Thr p.P3734T ENST00000463781 2/25 43 25 12 35 30 0 MUC4,missense_variant,p.Pro3734Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro3734Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro3734Thr,ENST00000478156,;MUC4,missense_variant,p.Pro3734Thr,ENST00000466475,;MUC4,missense_variant,p.Pro3734Thr,ENST00000477756,;MUC4,missense_variant,p.Pro3734Thr,ENST00000477086,;MUC4,missense_variant,p.Pro3734Thr,ENST00000480843,;MUC4,missense_variant,p.Pro3734Thr,ENST00000462323,;MUC4,missense_variant,p.Pro3734Thr,ENST00000470451,;MUC4,missense_variant,p.Pro3734Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000392407,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000448861,; T ENSG00000145113 ENST00000463781 Transcript missense_variant 11660/17110 11200/16239 3734/5412 P/T Cct/Act rs879693844,COSM1617360 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.18) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGG . . 0.01655 0.1025 0.01132 0.01075 0.06826 0.006503 0.01174 0.01775 0.008338 195780380 MUC4 . GRCh38 chr3 195784025 195784025 + Missense_Mutation SNP G G A rs747010184 7316-2723 BS_RX561Y2K G G c.7555C>T p.Pro2519Ser p.P2519S ENST00000463781 2/25 75 46 7 45 42 1 MUC4,missense_variant,p.Pro2519Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2519Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2519Ser,ENST00000478156,;MUC4,missense_variant,p.Pro2519Ser,ENST00000466475,;MUC4,missense_variant,p.Pro2519Ser,ENST00000477756,;MUC4,missense_variant,p.Pro2519Ser,ENST00000477086,;MUC4,missense_variant,p.Pro2519Ser,ENST00000480843,;MUC4,missense_variant,p.Pro2519Ser,ENST00000462323,;MUC4,missense_variant,p.Pro2519Ser,ENST00000470451,;MUC4,missense_variant,p.Pro2519Ser,ENST00000479406,; A ENSG00000145113 ENST00000463781 Transcript missense_variant 8015/17110 7555/16239 2519/5412 P/S Ccc/Tcc rs747010184,COSM2945417 1 -1 MUC4 HGNC HGNC:7514 protein_coding YES CCDS54700.1 ENSP00000417498 E9PDY6 UPI0001B3CB30 NM_018406.6 tolerated_low_confidence(0.84) possibly_damaging(0.65) 2/25 mobidb-lite,hmmpanther:PTHR42668 0,1 MODERATE 1 SNV 5 0,1 1 PASS GGA . . 6.895e-05 0.000185 0.0001196 0.000533 4.383e-05 5.42e-05 195784025 SLC9B1 . GRCh38 chr4 102911454 102911454 + Nonsense_Mutation SNP G G A rs75599926 7316-2723 BS_RX561Y2K G G c.913C>T p.Arg305Ter p.R305* ENST00000296422 8/12 72 62 10 52 51 0 SLC9B1,stop_gained,p.Arg305Ter,ENST00000296422,NM_139173.3;SLC9B1,stop_gained,p.Arg305Ter,ENST00000394789,NM_001100874.2;SLC9B1,stop_gained,p.Arg248Ter,ENST00000514340,;SLC9B1,stop_gained,p.Arg30Ter,ENST00000511253,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,upstream_gene_variant,,ENST00000509614,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,3_prime_UTR_variant,,ENST00000510243,; A ENSG00000164037 ENST00000296422 Transcript stop_gained 1055/1879 913/1548 305/515 R/* Cga/Tga rs75599926,COSM4158717 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 8/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 HIGH 1 SNV 1 0,1 PASS CGA . . 0.02514 0.01757 0.02884 0.01827 0.02377 0.01651 0.02874 0.01667 0.02071 102911454 SLC9B1 . GRCh38 chr4 102911493 102911493 + Missense_Mutation SNP T T A rs200816768 7316-2723 BS_RX561Y2K T T c.874A>T p.Ile292Phe p.I292F ENST00000296422 8/12 73 63 10 55 55 0 SLC9B1,missense_variant,p.Ile292Phe,ENST00000296422,NM_139173.3;SLC9B1,missense_variant,p.Ile292Phe,ENST00000394789,NM_001100874.2;SLC9B1,missense_variant,p.Ile235Phe,ENST00000514340,;SLC9B1,missense_variant,p.Ile17Phe,ENST00000511253,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,upstream_gene_variant,,ENST00000509614,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,3_prime_UTR_variant,,ENST00000510243,; A ENSG00000164037 ENST00000296422 Transcript missense_variant 1016/1879 874/1548 292/515 I/F Att/Ttt rs200816768,COSM1315920 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 deleterious(0.03) benign(0.2) 8/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Transmembrane_helices:TMhelix 0,1 MODERATE 1 SNV 1 0,1 PASS ATA . . 0.02262 0.01413 0.0264 0.01607 0.02254 0.01462 0.02591 0.01292 0.01892 102911493 SLC9B1 . GRCh38 chr4 102911508 102911508 + Missense_Mutation SNP T T C rs201645894 7316-2723 BS_RX561Y2K T T c.859A>G p.Ile287Val p.I287V ENST00000296422 8/12 77 67 10 56 56 0 SLC9B1,missense_variant,p.Ile287Val,ENST00000296422,NM_139173.3;SLC9B1,missense_variant,p.Ile287Val,ENST00000394789,NM_001100874.2;SLC9B1,missense_variant,p.Ile230Val,ENST00000514340,;SLC9B1,missense_variant,p.Ile12Val,ENST00000511253,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,upstream_gene_variant,,ENST00000509614,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,3_prime_UTR_variant,,ENST00000510243,; C ENSG00000164037 ENST00000296422 Transcript missense_variant 1001/1879 859/1548 287/515 I/V Ata/Gta rs201645894,COSM1315921 1 -1 SLC9B1 HGNC HGNC:24244 protein_coding YES CCDS34041.1 ENSP00000296422 Q4ZJI4 UPI000020B281 NM_139173.3 tolerated(1) benign(0.01) 8/12 Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5 0,1 MODERATE 1 SNV 1 0,1 PASS ATA . . 0.002001 0.0007524 0.003332 0.001846 0.001948 0.0007193 0.002119 0.0006372 0.001677 102911508 PRDM9 . GRCh38 chr5 23526859 23526859 + Missense_Mutation SNP T T C rs200381384 7316-2723 BS_RX561Y2K T T c.1771T>C p.Trp591Arg p.W591R ENST00000296682 11/11 42 23 5 35 34 0 PRDM9,missense_variant,p.Trp591Arg,ENST00000296682,NM_020227.3;PRDM9,downstream_gene_variant,,ENST00000635252,;,regulatory_region_variant,,ENSR00000178848,;,regulatory_region_variant,,ENSR00000314203,; C ENSG00000164256 ENST00000296682 Transcript missense_variant 1953/3691 1771/2685 591/894 W/R Tgg/Cgg rs200381384,COSM6197182 1 1 PRDM9 HGNC HGNC:13994 protein_coding YES CCDS43307.1 ENSP00000296682 Q9NQV7 UPI00006C9E90 NM_020227.3 tolerated(0.61) benign(0) 11/11 PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PIRSF_domain:PIRSF013212,SMART_domains:SM00355,Superfamily_domains:SSF57667 0.0007039 0.0003544 0,1 MODERATE 1 SNV 1 0,1 PASS CTG . . 4.267e-05 0.0004237 6.736e-05 1.84e-05 23526859 SRPK1 . GRCh38 chr6 35842606 35842607 + Splice_Region INS - - A rs754869954 7316-2723 BS_RX561Y2K - - c.1621-3dup ENST00000373825 62 50 7 31 29 0 SRPK1,splice_region_variant,,ENST00000361690,;SRPK1,splice_region_variant,,ENST00000373825,NM_003137.4;SRPK1,splice_region_variant,,ENST00000423325,;SRPK1,splice_region_variant,,ENST00000346162,;SRPK1,upstream_gene_variant,,ENST00000505885,; A ENSG00000096063 ENST00000373825 Transcript splice_region_variant,intron_variant rs754869954,TMP_ESP_6_35810384_35810385 1 -1 SRPK1 HGNC HGNC:11305 protein_coding YES CCDS47415.1 ENSP00000362931 Q96SB4 UPI000020DBDD NM_003137.4 13/15 0.003708 0.006653 LOW 1 insertion 1 PASS CTA . . 0.04325 0.03634 0.08895 0.05821 0.06194 0.01576 0.03164 0.04934 0.0695 35842606 SOGA3 . GRCh38 chr6 127515684 127515684 + Missense_Mutation SNP T T G novel 7316-2723 BS_RX561Y2K T T c.931A>C p.Met311Leu p.M311L ENST00000525778 2/7 63 55 7 37 37 0 SOGA3,missense_variant,p.Met311Leu,ENST00000525778,NM_001012279.2;SOGA3,missense_variant,p.Met311Leu,ENST00000465909,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;AL096711.2,missense_variant,p.Met311Leu,ENST00000481848,;,regulatory_region_variant,,ENSR00000202443,; G ENSG00000214338 ENST00000525778 Transcript missense_variant 1677/4077 931/2844 311/947 M/L Atg/Ctg 1 -1 SOGA3 HGNC HGNC:21494 protein_coding YES CCDS43505.1 ENSP00000434570 Q5TF21 UPI0000419273 NM_001012279.2 tolerated_low_confidence(0.44) benign(0.01) 2/7 Gene3D:1.20.5.170,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2,mobidb-lite,Low_complexity_(Seg):seg MODERATE 1 SNV 5 PASS ATT . . 127515684 MUC17 . GRCh38 chr7 101034866 101034866 + Missense_Mutation SNP A A G rs879099301 7316-2723 BS_RX561Y2K A A c.3450A>G p.Ile1150Met p.I1150M ENST00000306151 3/13 81 60 5 69 64 0 MUC17,missense_variant,p.Ile1150Met,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile1150Met,ENST00000379439,; G ENSG00000169876 ENST00000306151 Transcript missense_variant 3514/14247 3450/13482 1150/4493 I/M atA/atG rs879099301 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 tolerated(1) benign(0) 3/13 hmmpanther:PTHR37999,mobidb-lite MODERATE 1 SNV 1 PASS TAC . . 101034866 MUC17 . GRCh38 chr7 101040240 101040240 + Missense_Mutation SNP G G T 7316-2723 BS_RX561Y2K G G c.8824G>T p.Gly2942Cys p.G2942C ENST00000306151 3/13 63 49 7 47 44 0 MUC17,missense_variant,p.Gly2942Cys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gly2942Cys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,; T ENSG00000169876 ENST00000306151 Transcript missense_variant 8888/14247 8824/13482 2942/4493 G/C Ggt/Tgt COSM743546 1 1 MUC17 HGNC HGNC:16800 protein_coding YES CCDS34711.1 ENSP00000302716 Q685J3 UPI0000D5BB56 NM_001040105.1 deleterious(0.01) probably_damaging(0.921) 3/13 hmmpanther:PTHR37999,mobidb-lite 1 MODERATE 1 SNV 1 1 PASS CGG . . 101040240 NOC3L . GRCh38 chr10 94358222 94358223 + Splice_Region DEL CA CA - rs111938683 7316-2723 BS_RX561Y2K CA CA c.218-8_218-7del ENST00000371361 71 60 5 37 34 0 NOC3L,splice_region_variant,,ENST00000371361,NM_022451.10;NOC3L,splice_region_variant,,ENST00000463649,;NOC3L,downstream_gene_variant,,ENST00000461562,;,regulatory_region_variant,,ENSR00000031873,; - ENSG00000173145 ENST00000371361 Transcript splice_region_variant,intron_variant rs111938683 1 -1 NOC3L HGNC HGNC:24034 protein_coding YES CCDS7433.1 ENSP00000360412 Q8WTT2 UPI000006DE09 NM_022451.10 2/20 LOW 1 deletion 1 PASS ACCAC . . 0.01394 0.01108 0.0159 0.01998 0.01383 0.01493 0.01167 0.01395 0.01928 94358221 FAM86C1 . GRCh38 chr11 71796111 71796111 + Missense_Mutation SNP C C T rs150702586 7316-2723 BS_RX561Y2K C C c.356C>T p.Thr119Ile p.T119I ENST00000359244 4/5 78 57 20 44 42 2 FAM86C1,missense_variant,p.Thr119Ile,ENST00000359244,NM_018172.2;FAM86C1,missense_variant,p.Thr85Ile,ENST00000346333,NM_152563.2;FAM86C1,missense_variant,p.Thr112Ile,ENST00000426628,NM_001099653.1;AP002495.1,non_coding_transcript_exon_variant,,ENST00000524714,;AP002495.1,intron_variant,,ENST00000511954,;FAM86C1,missense_variant,p.Thr85Ile,ENST00000528685,;FAM86C1,3_prime_UTR_variant,,ENST00000510443,;FAM86C1,3_prime_UTR_variant,,ENST00000526393,;ALG1L9P,downstream_gene_variant,,ENST00000532875,; T ENSG00000158483 ENST00000359244 Transcript missense_variant 379/2110 356/498 119/165 T/I aCa/aTa rs150702586,COSM4200632,COSM4200631,COSM4200630 1 1 FAM86C1 HGNC HGNC:25561 protein_coding YES CCDS41686.1 ENSP00000352182 Q9NVL1 UPI000013DF79 NM_018172.2 deleterious(0.02) benign(0.012) 4/5 0.0046 0.0023 0.0043 0.0089 0.006 0.002 0,1,1,1 MODERATE 1 SNV 2 0,1,1,1 PASS ACA . . 0.002062 0.001092 0.003248 0.00137 0.004946 0.0003737 0.002113 0.003316 0.0007964 71796111 ARGLU1 . GRCh38 chr13 106567726 106567726 + Missense_Mutation SNP A A C novel 7316-2723 BS_RX561Y2K A A c.194T>G p.Val65Gly p.V65G ENST00000400198 1/4 60 47 8 40 39 0 ARGLU1,missense_variant,p.Val65Gly,ENST00000400198,NM_018011.3;ARGLU1,upstream_gene_variant,,ENST00000360629,;,regulatory_region_variant,,ENSR00000065521,; C ENSG00000134884 ENST00000400198 Transcript missense_variant 439/3390 194/822 65/273 V/G gTg/gGg 1 -1 ARGLU1 HGNC HGNC:25482 protein_coding YES CCDS41906.1 ENSP00000383059 Q9NWB6 A0A024RDW4 UPI00000373ED NM_018011.3 tolerated(0.25) benign(0) 1/4 Low_complexity_(Seg):seg,mobidb-lite,hmmpanther:PTHR31711:SF1,hmmpanther:PTHR31711 MODERATE 1 SNV 1 PASS CAC . . 106567726 AHNAK2 . GRCh38 chr14 104951706 104951706 + Missense_Mutation SNP C C G rs556765311 7316-2723 BS_RX561Y2K C C c.3745G>C p.Val1249Leu p.V1249L ENST00000333244 7/7 77 68 8 34 34 0 AHNAK2,missense_variant,p.Val1249Leu,ENST00000333244,NM_138420.2,NM_001350929.1;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,; G ENSG00000185567 ENST00000333244 Transcript missense_variant 3865/18254 3745/17388 1249/5795 V/L Gtg/Ctg rs556765311 1 -1 AHNAK2 HGNC HGNC:20125 protein_coding YES CCDS45177.1 ENSP00000353114 Q8IVF2 UPI00015BB2CA NM_138420.2,NM_001350929.1 tolerated(0.08) benign(0.208) 7/7 hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348 MODERATE 1 SNV 5 PASS ACC . . 4.421e-05 6.369e-05 0.0002847 104951706 CLEC4M . GRCh38 chr19 7766121 7766121 + Missense_Mutation SNP A A G rs144783051 7316-2723 BS_RX561Y2K A A c.698A>G p.Gln233Arg p.Q233R ENST00000327325 4/7 85 67 8 54 53 0 CLEC4M,missense_variant,p.Gln233Arg,ENST00000327325,NM_001144909.1,NM_001144910.1,NM_014257.4,NM_001144905.1;CLEC4M,missense_variant,p.Gln221Arg,ENST00000394122,;CLEC4M,missense_variant,p.Gln210Arg,ENST00000248228,;CLEC4M,missense_variant,p.Gln182Arg,ENST00000334806,NM_001144904.1;CLEC4M,missense_variant,p.Gln189Arg,ENST00000359059,NM_001144907.1;CLEC4M,missense_variant,p.Gln205Arg,ENST00000596363,NM_001144911.1;CLEC4M,missense_variant,p.Gln205Arg,ENST00000595751,;CLEC4M,intron_variant,,ENST00000595496,NM_001144906.1;CLEC4M,intron_variant,,ENST00000596707,;CLEC4M,intron_variant,,ENST00000597522,NM_001144908.1;CLEC4M,non_coding_transcript_exon_variant,,ENST00000601089,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000598879,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000599333,;CLEC4M,upstream_gene_variant,,ENST00000602143,; G ENSG00000104938 ENST00000327325 Transcript missense_variant 816/1935 698/1200 233/399 Q/R cAg/cGg rs144783051,COSM5956620,COSM5956619,COSM3718542 1 1 CLEC4M HGNC HGNC:13523 protein_coding YES CCDS12187.1 ENSP00000316228 Q9H2X3 UPI0000073C48 NM_001144909.1,NM_001144910.1,NM_014257.4,NM_001144905.1 tolerated(0.22) benign(0) 4/7 hmmpanther:PTHR22802,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF267,hmmpanther:PTHR22802:SF267,Gene3D:3.10.100.10,Superfamily_domains:SSF56436 0,1,1,1 MODERATE 1 SNV 1 0,1,1,1 PASS CAG . . 0.0004089 0.001821 0.0001199 0.000102 0.0004065 0.0005044 0.0005517 7766121 CRTC1 . GRCh38 chr19 18747101 18747101 + Missense_Mutation SNP A A C novel 7316-2723 BS_RX561Y2K A A c.478A>C p.Thr160Pro p.T160P ENST00000338797 5/15 68 54 10 41 37 0 CRTC1,missense_variant,p.Thr160Pro,ENST00000338797,NM_001098482.1;CRTC1,missense_variant,p.Thr144Pro,ENST00000321949,NM_015321.2;CRTC1,missense_variant,p.Thr103Pro,ENST00000594658,;CRTC1,missense_variant,p.Thr69Pro,ENST00000601916,;,regulatory_region_variant,,ENSR00000108137,; C ENSG00000105662 ENST00000338797 Transcript missense_variant 503/6929 478/1953 160/650 T/P Acc/Ccc 1 1 CRTC1 HGNC HGNC:16062 protein_coding YES CCDS42525.1 ENSP00000345001 Q6UUV9 UPI00001D9A88 NM_001098482.1 tolerated(0.14) benign(0.13) 5/15 mobidb-lite,hmmpanther:PTHR13589,hmmpanther:PTHR13589:SF14 MODERATE 1 SNV 1 1 PASS CAC . . 18747101 ZNF43 . GRCh38 chr19 21807843 21807843 + Missense_Mutation SNP G G T rs1363317472 7316-2723 BS_RX561Y2K G G c.2221C>A p.Gln741Lys p.Q741K ENST00000357491 4/4 57 49 7 33 33 0 ZNF43,missense_variant,p.Gln726Lys,ENST00000594012,NM_001256649.1;ZNF43,missense_variant,p.Gln741Lys,ENST00000357491,NM_001256653.1;ZNF43,missense_variant,p.Gln726Lys,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Gln726Lys,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Gln732Lys,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000596899,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000599906,NM_001256654.1,NM_001256651.1; T ENSG00000198521 ENST00000357491 Transcript missense_variant 2355/5249 2221/2457 741/818 Q/K Caa/Aaa rs1363317472,COSM349539 1 -1 ZNF43 HGNC HGNC:13109 protein_coding YES CCDS74321.1 ENSP00000350085 A0A087WSW2 UPI00002038CF NM_001256653.1 tolerated(1) benign(0) 4/4 Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,Superfamily_domains:SSF57667 0,1 MODERATE 1 SNV 2 0,1 PASS TGC . . 4.136e-06 3.393e-05 21807843 ZFP82 . GRCh38 chr19 36393071 36393071 + Missense_Mutation SNP G G T rs1248418509 7316-2723 BS_RX561Y2K G G c.1269C>A p.Asp423Glu p.D423E ENST00000392161 5/5 71 60 9 52 52 0 ZFP82,missense_variant,p.Asp423Glu,ENST00000392161,NM_001321917.1,NM_133466.3,NM_001321918.1,NM_001321919.1;ZFP82,intron_variant,,ENST00000445543,;ZFP82,non_coding_transcript_exon_variant,,ENST00000590993,;,regulatory_region_variant,,ENSR00000109134,; T ENSG00000181007 ENST00000392161 Transcript missense_variant 1512/2623 1269/1599 423/532 D/E gaC/gaA rs1248418509,COSM6285748,COSM6285747 1 -1 ZFP82 HGNC HGNC:28682 protein_coding YES CCDS12493.1 ENSP00000431265 Q8N141 D3Y299 UPI0000071159 NM_001321917.1,NM_133466.3,NM_001321918.1,NM_001321919.1 tolerated(1) benign(0.006) 5/5 PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF246,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667 0,1,1 MODERATE 1 SNV 1 0,1,1 PASS AGT . . 36393071 LMTK3 . GRCh38 chr19 48499330 48499330 + Missense_Mutation SNP A A C novel 7316-2723 BS_RX561Y2K A A c.1826T>G p.Val609Gly p.V609G ENST00000270238 12/16 71 51 12 34 32 0 LMTK3,missense_variant,p.Val580Gly,ENST00000600059,;LMTK3,missense_variant,p.Val609Gly,ENST00000270238,NM_001080434.1; C ENSG00000142235 ENST00000270238 Transcript missense_variant 1826/4972 1826/4470 609/1489 V/G gTg/gGg 1 -1 LMTK3 HGNC HGNC:19295 protein_coding YES CCDS46136.1 ENSP00000270238 A0A0A0MQW5 UPI00001D8182 NM_001080434.1 deleterious_low_confidence(0) possibly_damaging(0.451) 12/16 hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF2 MODERATE 1 SNV 1 PASS CAC . . 48499330 JPH2 . GRCh38 chr20 44160189 44160189 + Missense_Mutation SNP A A C novel 7316-2723 BS_RX561Y2K A A c.598T>G p.Phe200Val p.F200V ENST00000372980 2/6 76 64 11 35 35 0 JPH2,missense_variant,p.Phe200Val,ENST00000372980,NM_020433.4; C ENSG00000149596 ENST00000372980 Transcript missense_variant 1471/4787 598/2091 200/696 F/V Ttc/Gtc 1 -1 JPH2 HGNC HGNC:14202 protein_coding YES CCDS13325.1 ENSP00000362071 Q9BR39 UPI000012DAC2 NM_020433.4 deleterious(0) probably_damaging(0.994) 2/6 PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF16 MODERATE 1 SNV 5 1 PASS AAG . . 44160189 KRTAP10-6 . GRCh38 chr21 44591713 44591713 + Missense_Mutation SNP G G A rs373818776 7316-2723 BS_RX561Y2K G G c.772C>T p.Pro258Ser p.P258S ENST00000400368 1/1 69 55 6 35 35 0 KRTAP10-6,missense_variant,p.Pro258Ser,ENST00000400368,NM_198688.3;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;KRTAP10-4,intron_variant,,ENST00000622352,;TSPEAR,intron_variant,,ENST00000642437,; A ENSG00000188155 ENST00000400368 Transcript missense_variant 793/1238 772/1098 258/365 P/S Cca/Tca rs373818776,COSM6210228 1 -1 KRTAP10-6 HGNC HGNC:20523 protein_coding YES CCDS42959.1 ENSP00000383219 P60371 UPI000021C43D NM_198688.3 deleterious(0.05) possibly_damaging(0.592) 1/1 Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF142,Pfam_domain:PF13885 0,1 MODERATE SNV 0,1 PASS GGC . . 1.625e-05 6.542e-05 2.687e-05 44591713 MAGEC1 . GRCh38 chrX 141906905 141906905 + Missense_Mutation SNP T T A rs766499589 7316-2723 BS_RX561Y2K T T c.1501T>A p.Cys501Ser p.C501S ENST00000285879 4/4 60 49 7 36 36 0 MAGEC1,missense_variant,p.Cys501Ser,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,; A ENSG00000155495 ENST00000285879 Transcript missense_variant 1787/4270 1501/3429 501/1142 C/S Tgt/Agt rs766499589,COSM4699928 1 1 MAGEC1 HGNC HGNC:6812 protein_coding YES CCDS35417.1 ENSP00000285879 O60732 UPI000006F2FD NM_005462.4 tolerated_low_confidence(1) benign(0) 4/4 hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17 0,1 MODERATE 1 SNV 1 0,1 PASS GTG . . 141906905